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.50720856_50720894del | CA2819316113 | SHANK3 | c.2624_2662del (p.Ala875_Leu887del) n.3208_3246del c.1676_1714del (p.Ala559_Leu571del) c.1166_1204del (p.Ala389_Leu401del) c.*1622_*1660del (n.*1622_*1660del) c.3020_3058del (p.Ala1007_Leu1019del) c.3002_3040del (p.Ala1001_Leu1013del) | |
| 22 | g.50720878_50720888del | CA1139667202 | SHANK3 | c.2646_2656del (p.Lys883AlafsTer?) n.3230_3240del c.1698_1708del (p.Lys567AlafsTer?) c.1188_1198del (p.Lys397AlafsTer?) c.*1644_*1654del (n.*1644_*1654del) c.3042_3052del (p.Lys1015AlafsTer?) c.3024_3034del (p.Lys1009AlafsTer?) | ClinVar dbSNP |
| 22 | g.50720878_50720893delinsCAAGGACCGGCGGCTG | CA2411007885 | SHANK3 | c.2646_2661delinsCAAGGACCGGCGGCTG (p.Ala882=) n.3230_3245delinsCAAGGACCGGCGGCTG c.1698_1713delinsCAAGGACCGGCGGCTG (p.Ala566=) c.1188_1203delinsCAAGGACCGGCGGCTG (p.Ala396=) c.*1644_*1659delinsCAAGGACCGGCGGCTG (n.*1644_*1659delinsCAAGGACCGGCGGCTG) c.3042_3057delinsCAAGGACCGGCGGCTG (p.Ala1014=) c.3024_3039delinsCAAGGACCGGCGGCTG (p.Ala1008=) | |
| 22 | g.50720879_50720893del | CA2411007886 | SHANK3 | c.2647_2661del (p.Lys883_Leu887del) n.3231_3245del c.1699_1713del (p.Lys567_Leu571del) c.1189_1203del (p.Lys397_Leu401del) c.*1645_*1659del (n.*1645_*1659del) c.3043_3057del (p.Lys1015_Leu1019del) c.3025_3039del (p.Lys1009_Leu1013del) | dbSNP gnomAD v4 |
| 22 | g.50720888_50720889del | CA2657583418 | SHANK3 | c.2656_2657del (p.Arg886AlafsTer?) n.3240_3241del c.1708_1709del (p.Arg570AlafsTer?) c.1198_1199del (p.Arg400AlafsTer?) c.*1654_*1655del (n.*1654_*1655del) c.3052_3053del (p.Arg1018AlafsTer?) c.3034_3035del (p.Arg1012AlafsTer?) | gnomAD v4 |
| 22 | g.50720888C>A | CA515260579 | SHANK3 | c.2656C>A (p.Arg886=) n.3240C>A c.1708C>A (p.Arg570=) c.1198C>A (p.Arg400=) c.*1654C>A (n.*1654C>A) c.3052C>A (p.Arg1018=) c.3034C>A (p.Arg1012=) | gnomAD v4 |
| 22 | g.50720888C= | CA2411007892 | SHANK3 | c.2656C= (p.Arg886=) n.3240C= c.1708C= (p.Arg570=) c.1198C= (p.Arg400=) c.*1654C= (n.*1654C=) c.3052C= (p.Arg1018=) c.3034C= (p.Arg1012=) | |
| 22 | g.50720888C>G | CA515260580 | SHANK3 | c.2656C>G (p.Arg886Gly) n.3240C>G c.1708C>G (p.Arg570Gly) c.1198C>G (p.Arg400Gly) c.*1654C>G (n.*1654C>G) c.3052C>G (p.Arg1018Gly) c.3034C>G (p.Arg1012Gly) | |
| 22 | g.50720888C>T | CA10325949 | SHANK3 | c.2656C>T (p.Arg886Trp) n.3240C>T c.1708C>T (p.Arg570Trp) c.1198C>T (p.Arg400Trp) c.*1654C>T (n.*1654C>T) c.3052C>T (p.Arg1018Trp) c.3034C>T (p.Arg1012Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50720889G>A | CA515260581 | SHANK3 | c.2657G>A (p.Arg886Gln) n.3241G>A c.1709G>A (p.Arg570Gln) c.1199G>A (p.Arg400Gln) c.*1655G>A (n.*1655G>A) c.3053G>A (p.Arg1018Gln) c.3035G>A (p.Arg1012Gln) | gnomAD v4 |
| 22 | g.50720889G>C | CA515260582 | SHANK3 | c.2657G>C (p.Arg886Pro) n.3241G>C c.1709G>C (p.Arg570Pro) c.1199G>C (p.Arg400Pro) c.*1655G>C (n.*1655G>C) c.3053G>C (p.Arg1018Pro) c.3035G>C (p.Arg1012Pro) | gnomAD v4 |
| 22 | g.50720889G>T | CA515260583 | SHANK3 | c.2657G>T (p.Arg886Leu) n.3241G>T c.1709G>T (p.Arg570Leu) c.1199G>T (p.Arg400Leu) c.*1655G>T (n.*1655G>T) c.3053G>T (p.Arg1018Leu) c.3035G>T (p.Arg1012Leu) | gnomAD v4 |
| 22 | g.50720890G>A | CA515260584 | SHANK3 | c.2658G>A (p.Arg886=) n.3242G>A c.1710G>A (p.Arg570=) c.1200G>A (p.Arg400=) c.*1656G>A (n.*1656G>A) c.3054G>A (p.Arg1018=) c.3036G>A (p.Arg1012=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50720890G>C | CA515260585 | SHANK3 | c.2658G>C (p.Arg886=) n.3242G>C c.1710G>C (p.Arg570=) c.1200G>C (p.Arg400=) c.*1656G>C (n.*1656G>C) c.3054G>C (p.Arg1018=) c.3036G>C (p.Arg1012=) | |
| 22 | g.50720890G= | CA2411007893 | SHANK3 | c.2658G= (p.Arg886=) n.3242G= c.1710G= (p.Arg570=) c.1200G= (p.Arg400=) c.*1656G= (n.*1656G=) c.3054G= (p.Arg1018=) c.3036G= (p.Arg1012=) | |
| 22 | g.50720890G>T | CA515260586 | SHANK3 | c.2658G>T (p.Arg886=) n.3242G>T c.1710G>T (p.Arg570=) c.1200G>T (p.Arg400=) c.*1656G>T (n.*1656G>T) c.3054G>T (p.Arg1018=) c.3036G>T (p.Arg1012=) | gnomAD v4 |
| 22 | g.50720891C>A | CA515260589 | SHANK3 | c.2659C>A (p.Leu887Met) n.3243C>A c.1711C>A (p.Leu571Met) c.1201C>A (p.Leu401Met) c.*1657C>A (n.*1657C>A) c.3055C>A (p.Leu1019Met) c.3037C>A (p.Leu1013Met) | gnomAD v4 |
| 22 | g.50720891C>G | CA515260588 | SHANK3 | c.2659C>G (p.Leu887Val) n.3243C>G c.1711C>G (p.Leu571Val) c.1201C>G (p.Leu401Val) c.*1657C>G (n.*1657C>G) c.3055C>G (p.Leu1019Val) c.3037C>G (p.Leu1013Val) | dbSNP |
| 22 | g.50720891C>T | CA515260587 | SHANK3 | c.2659C>T (p.Leu887=) n.3243C>T c.1711C>T (p.Leu571=) c.1201C>T (p.Leu401=) c.*1657C>T (n.*1657C>T) c.3055C>T (p.Leu1019=) c.3037C>T (p.Leu1013=) | gnomAD v4 |
| 22 | g.50720892T>A | CA515260592 | SHANK3 | c.2660T>A (p.Leu887Gln) n.3244T>A c.1712T>A (p.Leu571Gln) c.1202T>A (p.Leu401Gln) c.*1658T>A (n.*1658T>A) c.3056T>A (p.Leu1019Gln) c.3038T>A (p.Leu1013Gln) | |
| 22 | g.50720892T>C | CA515260590 | SHANK3 | c.2660T>C (p.Leu887Pro) n.3244T>C c.1712T>C (p.Leu571Pro) c.1202T>C (p.Leu401Pro) c.*1658T>C (n.*1658T>C) c.3056T>C (p.Leu1019Pro) c.3038T>C (p.Leu1013Pro) | gnomAD v4 |
| 22 | g.50720892T>G | CA515260591 | SHANK3 | c.2660T>G (p.Leu887Arg) n.3244T>G c.1712T>G (p.Leu571Arg) c.1202T>G (p.Leu401Arg) c.*1658T>G (n.*1658T>G) c.3056T>G (p.Leu1019Arg) c.3038T>G (p.Leu1013Arg) | gnomAD v4 |
| 22 | g.50720893G>A | CA515260593 | SHANK3 | c.2661G>A (p.Leu887=) n.3245G>A c.1713G>A (p.Leu571=) c.1203G>A (p.Leu401=) c.*1659G>A (n.*1659G>A) c.3057G>A (p.Leu1019=) c.3039G>A (p.Leu1013=) | gnomAD v4 |
| 22 | g.50720893G>C | CA515260594 | SHANK3 | c.2661G>C (p.Leu887=) n.3245G>C c.1713G>C (p.Leu571=) c.1203G>C (p.Leu401=) c.*1659G>C (n.*1659G>C) c.3057G>C (p.Leu1019=) c.3039G>C (p.Leu1013=) | gnomAD v4 |
| 22 | g.50720893G>T | CA515260595 | SHANK3 | c.2661G>T (p.Leu887=) n.3245G>T c.1713G>T (p.Leu571=) c.1203G>T (p.Leu401=) c.*1659G>T (n.*1659G>T) c.3057G>T (p.Leu1019=) c.3039G>T (p.Leu1013=) | gnomAD v4 |
| 22 | g.50720894del | CA2740092006 | SHANK3 | c.2662del (p.Glu888ArgfsTer?) n.3246del c.1714del (p.Glu572ArgfsTer?) c.1204del (p.Glu402ArgfsTer?) c.*1660del (n.*1660del) c.3058del (p.Glu1020ArgfsTer?) c.3040del (p.Glu1014ArgfsTer?) | ClinVar |
| 22 | g.50720894G>A | CA515260598 | SHANK3 | c.2662G>A (p.Glu888Lys) n.3246G>A c.1714G>A (p.Glu572Lys) c.1204G>A (p.Glu402Lys) c.*1660G>A (n.*1660G>A) c.3058G>A (p.Glu1020Lys) c.3040G>A (p.Glu1014Lys) | gnomAD v4 |
| 22 | g.50720894G>C | CA515260597 | SHANK3 | c.2662G>C (p.Glu888Gln) n.3246G>C c.1714G>C (p.Glu572Gln) c.1204G>C (p.Glu402Gln) c.*1660G>C (n.*1660G>C) c.3058G>C (p.Glu1020Gln) c.3040G>C (p.Glu1014Gln) | |
| 22 | g.50720894G>T | CA515260596 | SHANK3 | c.2662G>T (p.Glu888Ter) n.3246G>T c.1714G>T (p.Glu572Ter) c.1204G>T (p.Glu402Ter) c.*1660G>T (n.*1660G>T) c.3058G>T (p.Glu1020Ter) c.3040G>T (p.Glu1014Ter) | gnomAD v4 |
| 22 | g.50720895del | CA2657583419 | SHANK3 | c.2663del (p.Glu888GlyfsTer?) n.3247del c.1715del (p.Glu572GlyfsTer?) c.1205del (p.Glu402GlyfsTer?) c.*1661del (n.*1661del) c.3059del (p.Glu1020GlyfsTer?) c.3041del (p.Glu1014GlyfsTer?) | gnomAD v4 |
| 22 | g.50720895A= | CA2411007894 | SHANK3 | c.2663A= (p.Glu888=) n.3247A= c.1715A= (p.Glu572=) c.1205A= (p.Glu402=) c.*1661A= (n.*1661A=) c.3059A= (p.Glu1020=) c.3041A= (p.Glu1014=) | |
| 22 | g.50720895A>C | CA515260599 | SHANK3 | c.2663A>C (p.Glu888Ala) n.3247A>C c.1715A>C (p.Glu572Ala) c.1205A>C (p.Glu402Ala) c.*1661A>C (n.*1661A>C) c.3059A>C (p.Glu1020Ala) c.3041A>C (p.Glu1014Ala) | gnomAD v4 |
| 22 | g.50720895A>G | CA325578397 | SHANK3 | c.2663A>G (p.Glu888Gly) n.3247A>G c.1715A>G (p.Glu572Gly) c.1205A>G (p.Glu402Gly) c.*1661A>G (n.*1661A>G) c.3059A>G (p.Glu1020Gly) c.3041A>G (p.Glu1014Gly) | dbSNP gnomAD v4 |
| 22 | g.50720895A>T | CA515260600 | SHANK3 | c.2663A>T (p.Glu888Val) n.3247A>T c.1715A>T (p.Glu572Val) c.1205A>T (p.Glu402Val) c.*1661A>T (n.*1661A>T) c.3059A>T (p.Glu1020Val) c.3041A>T (p.Glu1014Val) | |
| 22 | g.50720896G>A | CA515260601 | SHANK3 | c.2664G>A (p.Glu888=) n.3248G>A c.1716G>A (p.Glu572=) c.1206G>A (p.Glu402=) c.*1662G>A (n.*1662G>A) c.3060G>A (p.Glu1020=) c.3042G>A (p.Glu1014=) | gnomAD v4 |
| 22 | g.50720896G>C | CA515260602 | SHANK3 | c.2664G>C (p.Glu888Asp) n.3248G>C c.1716G>C (p.Glu572Asp) c.1206G>C (p.Glu402Asp) c.*1662G>C (n.*1662G>C) c.3060G>C (p.Glu1020Asp) c.3042G>C (p.Glu1014Asp) | |
| 22 | g.50720896G>T | CA515260603 | SHANK3 | c.2664G>T (p.Glu888Asp) n.3248G>T c.1716G>T (p.Glu572Asp) c.1206G>T (p.Glu402Asp) c.*1662G>T (n.*1662G>T) c.3060G>T (p.Glu1020Asp) c.3042G>T (p.Glu1014Asp) | gnomAD v4 |
| 22 | g.50720897G>A | CA515260604 | SHANK3 | c.2665G>A (p.Glu889Lys) n.3249G>A c.1717G>A (p.Glu573Lys) c.1207G>A (p.Glu403Lys) c.*1663G>A (n.*1663G>A) c.3061G>A (p.Glu1021Lys) c.3043G>A (p.Glu1015Lys) | gnomAD v4 |
| 22 | g.50720897G>C | CA515260606 | SHANK3 | c.2665G>C (p.Glu889Gln) n.3249G>C c.1717G>C (p.Glu573Gln) c.1207G>C (p.Glu403Gln) c.*1663G>C (n.*1663G>C) c.3061G>C (p.Glu1021Gln) c.3043G>C (p.Glu1015Gln) | |
| 22 | g.50720897G>T | CA515260605 | SHANK3 | c.2665G>T (p.Glu889Ter) n.3249G>T c.1717G>T (p.Glu573Ter) c.1207G>T (p.Glu403Ter) c.*1663G>T (n.*1663G>T) c.3061G>T (p.Glu1021Ter) c.3043G>T (p.Glu1015Ter) | gnomAD v4 |
| 22 | g.50720898A= | CA2411007895 | SHANK3 | c.2666A= (p.Glu889=) n.3250A= c.1718A= (p.Glu573=) c.1208A= (p.Glu403=) c.*1664A= (n.*1664A=) c.3062A= (p.Glu1021=) c.3044A= (p.Glu1015=) | |
| 22 | g.50720898A>C | CA515260607 | SHANK3 | c.2666A>C (p.Glu889Ala) n.3250A>C c.1718A>C (p.Glu573Ala) c.1208A>C (p.Glu403Ala) c.*1664A>C (n.*1664A>C) c.3062A>C (p.Glu1021Ala) c.3044A>C (p.Glu1015Ala) | gnomAD v4 |
| 22 | g.50720898A>G | CA515260608 | SHANK3 | c.2666A>G (p.Glu889Gly) n.3250A>G c.1718A>G (p.Glu573Gly) c.1208A>G (p.Glu403Gly) c.*1664A>G (n.*1664A>G) c.3062A>G (p.Glu1021Gly) c.3044A>G (p.Glu1015Gly) | dbSNP gnomAD v4 |
| 22 | g.50720898A>T | CA515260609 | SHANK3 | c.2666A>T (p.Glu889Val) n.3250A>T c.1718A>T (p.Glu573Val) c.1208A>T (p.Glu403Val) c.*1664A>T (n.*1664A>T) c.3062A>T (p.Glu1021Val) c.3044A>T (p.Glu1015Val) | gnomAD v4 |
| 22 | g.50720899G>A | CA325578404 | SHANK3 | c.2667G>A (p.Glu889=) n.3251G>A c.1719G>A (p.Glu573=) c.1209G>A (p.Glu403=) c.*1665G>A (n.*1665G>A) c.3063G>A (p.Glu1021=) c.3045G>A (p.Glu1015=) | dbSNP gnomAD v4 |
| 22 | g.50720899G>C | CA515260610 | SHANK3 | c.2667G>C (p.Glu889Asp) n.3251G>C c.1719G>C (p.Glu573Asp) c.1209G>C (p.Glu403Asp) c.*1665G>C (n.*1665G>C) c.3063G>C (p.Glu1021Asp) c.3045G>C (p.Glu1015Asp) | |
| 22 | g.50720899G= | CA2411007896 | SHANK3 | c.2667G= (p.Glu889=) n.3251G= c.1719G= (p.Glu573=) c.1209G= (p.Glu403=) c.*1665G= (n.*1665G=) c.3063G= (p.Glu1021=) c.3045G= (p.Glu1015=) | |
| 22 | g.50720899G>T | CA515260611 | SHANK3 | c.2667G>T (p.Glu889Asp) n.3251G>T c.1719G>T (p.Glu573Asp) c.1209G>T (p.Glu403Asp) c.*1665G>T (n.*1665G>T) c.3063G>T (p.Glu1021Asp) c.3045G>T (p.Glu1015Asp) | |
| 22 | g.50720900C>A | CA515260612 | SHANK3 | c.2668C>A (p.Arg890=) n.3252C>A c.1720C>A (p.Arg574=) c.1210C>A (p.Arg404=) c.*1666C>A (n.*1666C>A) c.3064C>A (p.Arg1022=) c.3046C>A (p.Arg1016=) | gnomAD v4 |
| 22 | g.50720900C= | CA2411007897 | SHANK3 | c.2668C= (p.Arg890=) n.3252C= c.1720C= (p.Arg574=) c.1210C= (p.Arg404=) c.*1666C= (n.*1666C=) c.3064C= (p.Arg1022=) c.3046C= (p.Arg1016=) | |
| 22 | g.50720900C>G | CA515260613 | SHANK3 | c.2668C>G (p.Arg890Gly) n.3252C>G c.1720C>G (p.Arg574Gly) c.1210C>G (p.Arg404Gly) c.*1666C>G (n.*1666C>G) c.3064C>G (p.Arg1022Gly) c.3046C>G (p.Arg1016Gly) | gnomAD v4 |
| 22 | g.50720900C>T | CA515260614 | SHANK3 | c.2668C>T (p.Arg890Trp) n.3252C>T c.1720C>T (p.Arg574Trp) c.1210C>T (p.Arg404Trp) c.*1666C>T (n.*1666C>T) c.3064C>T (p.Arg1022Trp) c.3046C>T (p.Arg1016Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720901G>A | CA515260615 | SHANK3 | c.2669G>A (p.Arg890Gln) n.3253G>A c.1721G>A (p.Arg574Gln) c.1211G>A (p.Arg404Gln) c.*1667G>A (n.*1667G>A) c.3065G>A (p.Arg1022Gln) c.3047G>A (p.Arg1016Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50720901G>C | CA515260616 | SHANK3 | c.2669G>C (p.Arg890Pro) n.3253G>C c.1721G>C (p.Arg574Pro) c.1211G>C (p.Arg404Pro) c.*1667G>C (n.*1667G>C) c.3065G>C (p.Arg1022Pro) c.3047G>C (p.Arg1016Pro) | |
| 22 | g.50720901G= | CA2411007898 | SHANK3 | c.2669G= (p.Arg890=) n.3253G= c.1721G= (p.Arg574=) c.1211G= (p.Arg404=) c.*1667G= (n.*1667G=) c.3065G= (p.Arg1022=) c.3047G= (p.Arg1016=) | |
| 22 | g.50720901G>T | CA515260617 | SHANK3 | c.2669G>T (p.Arg890Leu) n.3253G>T c.1721G>T (p.Arg574Leu) c.1211G>T (p.Arg404Leu) c.*1667G>T (n.*1667G>T) c.3065G>T (p.Arg1022Leu) c.3047G>T (p.Arg1016Leu) | gnomAD v4 |
| 22 | g.50720902G>A | CA10325950 | SHANK3 | c.2670G>A (p.Arg890=) n.3254G>A c.1722G>A (p.Arg574=) c.1212G>A (p.Arg404=) c.*1668G>A (n.*1668G>A) c.3066G>A (p.Arg1022=) c.3048G>A (p.Arg1016=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720902G>C | CA515260619 | SHANK3 | c.2670G>C (p.Arg890=) n.3254G>C c.1722G>C (p.Arg574=) c.1212G>C (p.Arg404=) c.*1668G>C (n.*1668G>C) c.3066G>C (p.Arg1022=) c.3048G>C (p.Arg1016=) | |
| 22 | g.50720902G= | CA2411007899 | SHANK3 | c.2670G= (p.Arg890=) n.3254G= c.1722G= (p.Arg574=) c.1212G= (p.Arg404=) c.*1668G= (n.*1668G=) c.3066G= (p.Arg1022=) c.3048G= (p.Arg1016=) | |
| 22 | g.50720902G>T | CA515260618 | SHANK3 | c.2670G>T (p.Arg890=) n.3254G>T c.1722G>T (p.Arg574=) c.1212G>T (p.Arg404=) c.*1668G>T (n.*1668G>T) c.3066G>T (p.Arg1022=) c.3048G>T (p.Arg1016=) | gnomAD v4 |
| 22 | g.50720903C>A | CA515260620 | SHANK3 | c.2671C>A (p.Arg891Ser) n.3255C>A c.1723C>A (p.Arg575Ser) c.1213C>A (p.Arg405Ser) c.*1669C>A (n.*1669C>A) c.3067C>A (p.Arg1023Ser) c.3049C>A (p.Arg1017Ser) | gnomAD v4 |
| 22 | g.50720903C>G | CA515260621 | SHANK3 | c.2671C>G (p.Arg891Gly) n.3255C>G c.1723C>G (p.Arg575Gly) c.1213C>G (p.Arg405Gly) c.*1669C>G (n.*1669C>G) c.3067C>G (p.Arg1023Gly) c.3049C>G (p.Arg1017Gly) | |
| 22 | g.50720903C>T | CA515260622 | SHANK3 | c.2671C>T (p.Arg891Cys) n.3255C>T c.1723C>T (p.Arg575Cys) c.1213C>T (p.Arg405Cys) c.*1669C>T (n.*1669C>T) c.3067C>T (p.Arg1023Cys) c.3049C>T (p.Arg1017Cys) | dbSNP gnomAD v4 |
| 22 | g.50720904G>A | CA515260623 | SHANK3 | c.2672G>A (p.Arg891His) n.3256G>A c.1724G>A (p.Arg575His) c.1214G>A (p.Arg405His) c.*1670G>A (n.*1670G>A) c.3068G>A (p.Arg1023His) c.3050G>A (p.Arg1017His) | dbSNP gnomAD v4 |
| 22 | g.50720904G>C | CA515260624 | SHANK3 | c.2672G>C (p.Arg891Pro) n.3256G>C c.1724G>C (p.Arg575Pro) c.1214G>C (p.Arg405Pro) c.*1670G>C (n.*1670G>C) c.3068G>C (p.Arg1023Pro) c.3050G>C (p.Arg1017Pro) | gnomAD v4 |
| 22 | g.50720904G= | CA2411007900 | SHANK3 | c.2672G= (p.Arg891=) n.3256G= c.1724G= (p.Arg575=) c.1214G= (p.Arg405=) c.*1670G= (n.*1670G=) c.3068G= (p.Arg1023=) c.3050G= (p.Arg1017=) | |
| 22 | g.50720904G>T | CA515260625 | SHANK3 | c.2672G>T (p.Arg891Leu) n.3256G>T c.1724G>T (p.Arg575Leu) c.1214G>T (p.Arg405Leu) c.*1670G>T (n.*1670G>T) c.3068G>T (p.Arg1023Leu) c.3050G>T (p.Arg1017Leu) | gnomAD v4 |
| 22 | g.50720905C>A | CA515260628 | SHANK3 | c.2673C>A (p.Arg891=) n.3257C>A c.1725C>A (p.Arg575=) c.1215C>A (p.Arg405=) c.*1671C>A (n.*1671C>A) c.3069C>A (p.Arg1023=) c.3051C>A (p.Arg1017=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50720905C= | CA2411007901 | SHANK3 | c.2673C= (p.Arg891=) n.3257C= c.1725C= (p.Arg575=) c.1215C= (p.Arg405=) c.*1671C= (n.*1671C=) c.3069C= (p.Arg1023=) c.3051C= (p.Arg1017=) | |
| 22 | g.50720905C>G | CA515260627 | SHANK3 | c.2673C>G (p.Arg891=) n.3257C>G c.1725C>G (p.Arg575=) c.1215C>G (p.Arg405=) c.*1671C>G (n.*1671C>G) c.3069C>G (p.Arg1023=) c.3051C>G (p.Arg1017=) | gnomAD v4 |
| 22 | g.50720905C>T | CA515260626 | SHANK3 | c.2673C>T (p.Arg891=) n.3257C>T c.1725C>T (p.Arg575=) c.1215C>T (p.Arg405=) c.*1671C>T (n.*1671C>T) c.3069C>T (p.Arg1023=) c.3051C>T (p.Arg1017=) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50720906C>A | CA515260629 | SHANK3 | c.2674C>A (p.Arg892Ser) n.3258C>A c.1726C>A (p.Arg576Ser) c.1216C>A (p.Arg406Ser) c.*1672C>A (n.*1672C>A) c.3070C>A (p.Arg1024Ser) c.3052C>A (p.Arg1018Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50720906C= | CA2411007902 | SHANK3 | c.2674C= (p.Arg892=) n.3258C= c.1726C= (p.Arg576=) c.1216C= (p.Arg406=) c.*1672C= (n.*1672C=) c.3070C= (p.Arg1024=) c.3052C= (p.Arg1018=) | |
| 22 | g.50720906C>G | CA515260630 | SHANK3 | c.2674C>G (p.Arg892Gly) n.3258C>G c.1726C>G (p.Arg576Gly) c.1216C>G (p.Arg406Gly) c.*1672C>G (n.*1672C>G) c.3070C>G (p.Arg1024Gly) c.3052C>G (p.Arg1018Gly) | gnomAD v4 |
| 22 | g.50720906C>T | CA515260631 | SHANK3 | c.2674C>T (p.Arg892Cys) n.3258C>T c.1726C>T (p.Arg576Cys) c.1216C>T (p.Arg406Cys) c.*1672C>T (n.*1672C>T) c.3070C>T (p.Arg1024Cys) c.3052C>T (p.Arg1018Cys) | gnomAD v4 |
| 22 | g.50720907G>A | CA10325951 | SHANK3 | c.2675G>A (p.Arg892His) n.3259G>A c.1727G>A (p.Arg576His) c.1217G>A (p.Arg406His) c.*1673G>A (n.*1673G>A) c.3071G>A (p.Arg1024His) c.3053G>A (p.Arg1018His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50720907G>C | CA515260632 | SHANK3 | c.2675G>C (p.Arg892Pro) n.3259G>C c.1727G>C (p.Arg576Pro) c.1217G>C (p.Arg406Pro) c.*1673G>C (n.*1673G>C) c.3071G>C (p.Arg1024Pro) c.3053G>C (p.Arg1018Pro) | gnomAD v4 |
| 22 | g.50720907G= | CA2411007903 | SHANK3 | c.2675G= (p.Arg892=) n.3259G= c.1727G= (p.Arg576=) c.1217G= (p.Arg406=) c.*1673G= (n.*1673G=) c.3071G= (p.Arg1024=) c.3053G= (p.Arg1018=) | |
| 22 | g.50720907G>T | CA515260633 | SHANK3 | c.2675G>T (p.Arg892Leu) n.3259G>T c.1727G>T (p.Arg576Leu) c.1217G>T (p.Arg406Leu) c.*1673G>T (n.*1673G>T) c.3071G>T (p.Arg1024Leu) c.3053G>T (p.Arg1018Leu) | gnomAD v4 |
| 22 | g.50720908C>A | CA515260634 | SHANK3 | c.2676C>A (p.Arg892=) n.3260C>A c.1728C>A (p.Arg576=) c.1218C>A (p.Arg406=) c.*1674C>A (n.*1674C>A) c.3072C>A (p.Arg1024=) c.3054C>A (p.Arg1018=) | gnomAD v4 |
| 22 | g.50720908C>G | CA515260636 | SHANK3 | c.2676C>G (p.Arg892=) n.3260C>G c.1728C>G (p.Arg576=) c.1218C>G (p.Arg406=) c.*1674C>G (n.*1674C>G) c.3072C>G (p.Arg1024=) c.3054C>G (p.Arg1018=) | |
| 22 | g.50720908C>T | CA515260635 | SHANK3 | c.2676C>T (p.Arg892=) n.3260C>T c.1728C>T (p.Arg576=) c.1218C>T (p.Arg406=) c.*1674C>T (n.*1674C>T) c.3072C>T (p.Arg1024=) c.3054C>T (p.Arg1018=) | |
| 22 | g.50720909T>A | CA515260637 | SHANK3 | c.2677T>A (p.Ser893Thr) n.3261T>A c.1729T>A (p.Ser577Thr) c.1219T>A (p.Ser407Thr) c.*1675T>A (n.*1675T>A) c.3073T>A (p.Ser1025Thr) c.3055T>A (p.Ser1019Thr) | |
| 22 | g.50720909T>C | CA515260638 | SHANK3 | c.2677T>C (p.Ser893Pro) n.3261T>C c.1729T>C (p.Ser577Pro) c.1219T>C (p.Ser407Pro) c.*1675T>C (n.*1675T>C) c.3073T>C (p.Ser1025Pro) c.3055T>C (p.Ser1019Pro) | gnomAD v4 |
| 22 | g.50720909T>G | CA515260639 | SHANK3 | c.2677T>G (p.Ser893Ala) n.3261T>G c.1729T>G (p.Ser577Ala) c.1219T>G (p.Ser407Ala) c.*1675T>G (n.*1675T>G) c.3073T>G (p.Ser1025Ala) c.3055T>G (p.Ser1019Ala) | gnomAD v4 |
| 22 | g.50720910C>A | CA515260640 | SHANK3 | c.2678C>A (p.Ser893Tyr) n.3262C>A c.1730C>A (p.Ser577Tyr) c.1220C>A (p.Ser407Tyr) c.*1676C>A (n.*1676C>A) c.3074C>A (p.Ser1025Tyr) c.3056C>A (p.Ser1019Tyr) | gnomAD v4 |
| 22 | g.50720910C= | CA2411007904 | SHANK3 | c.2678C= (p.Ser893=) n.3262C= c.1730C= (p.Ser577=) c.1220C= (p.Ser407=) c.*1676C= (n.*1676C=) c.3074C= (p.Ser1025=) c.3056C= (p.Ser1019=) | |
| 22 | g.50720910C>G | CA515260641 | SHANK3 | c.2678C>G (p.Ser893Cys) n.3262C>G c.1730C>G (p.Ser577Cys) c.1220C>G (p.Ser407Cys) c.*1676C>G (n.*1676C>G) c.3074C>G (p.Ser1025Cys) c.3056C>G (p.Ser1019Cys) | |
| 22 | g.50720910C>T | CA515260642 | SHANK3 | c.2678C>T (p.Ser893Phe) n.3262C>T c.1730C>T (p.Ser577Phe) c.1220C>T (p.Ser407Phe) c.*1676C>T (n.*1676C>T) c.3074C>T (p.Ser1025Phe) c.3056C>T (p.Ser1019Phe) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50720911C>A | CA515260643 | SHANK3 | c.2679C>A (p.Ser893=) n.3263C>A c.1731C>A (p.Ser577=) c.1221C>A (p.Ser407=) c.*1677C>A (n.*1677C>A) c.3075C>A (p.Ser1025=) c.3057C>A (p.Ser1019=) | gnomAD v4 |
| 22 | g.50720911C>G | CA515260644 | SHANK3 | c.2679C>G (p.Ser893=) n.3263C>G c.1731C>G (p.Ser577=) c.1221C>G (p.Ser407=) c.*1677C>G (n.*1677C>G) c.3075C>G (p.Ser1025=) c.3057C>G (p.Ser1019=) | |
| 22 | g.50720911C>T | CA515260645 | SHANK3 | c.2679C>T (p.Ser893=) n.3263C>T c.1731C>T (p.Ser577=) c.1221C>T (p.Ser407=) c.*1677C>T (n.*1677C>T) c.3075C>T (p.Ser1025=) c.3057C>T (p.Ser1019=) | |
| 22 | g.50720912A= | CA2411007905 | SHANK3 | c.2680A= (p.Thr894=) n.3264A= c.1732A= (p.Thr578=) c.1222A= (p.Thr408=) c.*1678A= (n.*1678A=) c.3076A= (p.Thr1026=) c.3058A= (p.Thr1020=) | |
| 22 | g.50720912A>C | CA325578434 | SHANK3 | c.2680A>C (p.Thr894Pro) n.3264A>C c.1732A>C (p.Thr578Pro) c.1222A>C (p.Thr408Pro) c.*1678A>C (n.*1678A>C) c.3076A>C (p.Thr1026Pro) c.3058A>C (p.Thr1020Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50720912A>G | CA325578442 | SHANK3 | c.2680A>G (p.Thr894Ala) n.3264A>G c.1732A>G (p.Thr578Ala) c.1222A>G (p.Thr408Ala) c.*1678A>G (n.*1678A>G) c.3076A>G (p.Thr1026Ala) c.3058A>G (p.Thr1020Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720912A>T | CA325578445 | SHANK3 | c.2680A>T (p.Thr894Ser) n.3264A>T c.1732A>T (p.Thr578Ser) c.1222A>T (p.Thr408Ser) c.*1678A>T (n.*1678A>T) c.3076A>T (p.Thr1026Ser) c.3058A>T (p.Thr1020Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720913C>A | CA515260646 | SHANK3 | c.2681C>A (p.Thr894Asn) n.3265C>A c.1733C>A (p.Thr578Asn) c.1223C>A (p.Thr408Asn) c.*1679C>A (n.*1679C>A) c.3077C>A (p.Thr1026Asn) c.3059C>A (p.Thr1020Asn) | dbSNP gnomAD v4 |
| 22 | g.50720913C= | CA2411007906 | SHANK3 | c.2681C= (p.Thr894=) n.3265C= c.1733C= (p.Thr578=) c.1223C= (p.Thr408=) c.*1679C= (n.*1679C=) c.3077C= (p.Thr1026=) c.3059C= (p.Thr1020=) | |
| 22 | g.50720913C>G | CA515260648 | SHANK3 | c.2681C>G (p.Thr894Ser) n.3265C>G c.1733C>G (p.Thr578Ser) c.1223C>G (p.Thr408Ser) c.*1679C>G (n.*1679C>G) c.3077C>G (p.Thr1026Ser) c.3059C>G (p.Thr1020Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50720913C>T | CA515260647 | SHANK3 | c.2681C>T (p.Thr894Ile) n.3265C>T c.1733C>T (p.Thr578Ile) c.1223C>T (p.Thr408Ile) c.*1679C>T (n.*1679C>T) c.3077C>T (p.Thr1026Ile) c.3059C>T (p.Thr1020Ile) | gnomAD v4 |
| 22 | g.50720914T>A | CA515260649 | SHANK3 | c.2682T>A (p.Thr894=) n.3266T>A c.1734T>A (p.Thr578=) c.1224T>A (p.Thr408=) c.*1680T>A (n.*1680T>A) c.3078T>A (p.Thr1026=) c.3060T>A (p.Thr1020=) | gnomAD v4 |
| 22 | g.50720914T>C | CA515260650 | SHANK3 | c.2682T>C (p.Thr894=) n.3266T>C c.1734T>C (p.Thr578=) c.1224T>C (p.Thr408=) c.*1680T>C (n.*1680T>C) c.3078T>C (p.Thr1026=) c.3060T>C (p.Thr1020=) | dbSNP gnomAD v4 |
| 22 | g.50720914T>G | CA515260651 | SHANK3 | c.2682T>G (p.Thr894=) n.3266T>G c.1734T>G (p.Thr578=) c.1224T>G (p.Thr408=) c.*1680T>G (n.*1680T>G) c.3078T>G (p.Thr1026=) c.3060T>G (p.Thr1020=) | gnomAD v4 |
| 22 | g.50720914T= | CA2411007907 | SHANK3 | c.2682T= (p.Thr894=) n.3266T= c.1734T= (p.Thr578=) c.1224T= (p.Thr408=) c.*1680T= (n.*1680T=) c.3078T= (p.Thr1026=) c.3060T= (p.Thr1020=) | |
| 22 | g.50720915G>A | CA515260652 | SHANK3 | c.2683G>A (p.Val895Met) n.3267G>A c.1735G>A (p.Val579Met) c.1225G>A (p.Val409Met) c.*1681G>A (n.*1681G>A) c.3079G>A (p.Val1027Met) c.3061G>A (p.Val1021Met) | gnomAD v4 |
| 22 | g.50720915G>C | CA515260653 | SHANK3 | c.2683G>C (p.Val895Leu) n.3267G>C c.1735G>C (p.Val579Leu) c.1225G>C (p.Val409Leu) c.*1681G>C (n.*1681G>C) c.3079G>C (p.Val1027Leu) c.3061G>C (p.Val1021Leu) | |
| 22 | g.50720915G>T | CA515260654 | SHANK3 | c.2683G>T (p.Val895Leu) n.3267G>T c.1735G>T (p.Val579Leu) c.1225G>T (p.Val409Leu) c.*1681G>T (n.*1681G>T) c.3079G>T (p.Val1027Leu) c.3061G>T (p.Val1021Leu) | gnomAD v4 |
| 22 | g.50720916T>A | CA515260655 | SHANK3 | c.2684T>A (p.Val895Glu) n.3268T>A c.1736T>A (p.Val579Glu) c.1226T>A (p.Val409Glu) c.*1682T>A (n.*1682T>A) c.3080T>A (p.Val1027Glu) c.3062T>A (p.Val1021Glu) | |
| 22 | g.50720916T>C | CA515260656 | SHANK3 | c.2684T>C (p.Val895Ala) n.3268T>C c.1736T>C (p.Val579Ala) c.1226T>C (p.Val409Ala) c.*1682T>C (n.*1682T>C) c.3080T>C (p.Val1027Ala) c.3062T>C (p.Val1021Ala) | |
| 22 | g.50720916T>G | CA515260657 | SHANK3 | c.2684T>G (p.Val895Gly) n.3268T>G c.1736T>G (p.Val579Gly) c.1226T>G (p.Val409Gly) c.*1682T>G (n.*1682T>G) c.3080T>G (p.Val1027Gly) c.3062T>G (p.Val1021Gly) | gnomAD v4 |
| 22 | g.50720917G>A | CA515260658 | SHANK3 | c.2685G>A (p.Val895=) n.3269G>A c.1737G>A (p.Val579=) c.1227G>A (p.Val409=) c.*1683G>A (n.*1683G>A) c.3081G>A (p.Val1027=) c.3063G>A (p.Val1021=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50720917G>C | CA515260659 | SHANK3 | c.2685G>C (p.Val895=) n.3269G>C c.1737G>C (p.Val579=) c.1227G>C (p.Val409=) c.*1683G>C (n.*1683G>C) c.3081G>C (p.Val1027=) c.3063G>C (p.Val1021=) | |
| 22 | g.50720917G= | CA2411007908 | SHANK3 | c.2685G= (p.Val895=) n.3269G= c.1737G= (p.Val579=) c.1227G= (p.Val409=) c.*1683G= (n.*1683G=) c.3081G= (p.Val1027=) c.3063G= (p.Val1021=) | |
| 22 | g.50720917G>T | CA10325952 | SHANK3 | c.2685G>T (p.Val895=) n.3269G>T c.1737G>T (p.Val579=) c.1227G>T (p.Val409=) c.*1683G>T (n.*1683G>T) c.3081G>T (p.Val1027=) c.3063G>T (p.Val1021=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720918T>A | CA515260662 | SHANK3 | c.2686T>A (p.Phe896Ile) n.3270T>A c.1738T>A (p.Phe580Ile) c.1228T>A (p.Phe410Ile) c.*1684T>A (n.*1684T>A) c.3082T>A (p.Phe1028Ile) c.3064T>A (p.Phe1022Ile) | |
| 22 | g.50720918T>C | CA515260661 | SHANK3 | c.2686T>C (p.Phe896Leu) n.3270T>C c.1738T>C (p.Phe580Leu) c.1228T>C (p.Phe410Leu) c.*1684T>C (n.*1684T>C) c.3082T>C (p.Phe1028Leu) c.3064T>C (p.Phe1022Leu) | |
| 22 | g.50720918T>G | CA515260660 | SHANK3 | c.2686T>G (p.Phe896Val) n.3270T>G c.1738T>G (p.Phe580Val) c.1228T>G (p.Phe410Val) c.*1684T>G (n.*1684T>G) c.3082T>G (p.Phe1028Val) c.3064T>G (p.Phe1022Val) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50720918T= | CA2411007909 | SHANK3 | c.2686T= (p.Phe896=) n.3270T= c.1738T= (p.Phe580=) c.1228T= (p.Phe410=) c.*1684T= (n.*1684T=) c.3082T= (p.Phe1028=) c.3064T= (p.Phe1022=) | |
| 22 | g.50720919T>A | CA515260663 | SHANK3 | c.2687T>A (p.Phe896Tyr) n.3271T>A c.1739T>A (p.Phe580Tyr) c.1229T>A (p.Phe410Tyr) c.*1685T>A (n.*1685T>A) c.3083T>A (p.Phe1028Tyr) c.3065T>A (p.Phe1022Tyr) | gnomAD v4 |
| 22 | g.50720919T>C | CA515260664 | SHANK3 | c.2687T>C (p.Phe896Ser) n.3271T>C c.1739T>C (p.Phe580Ser) c.1229T>C (p.Phe410Ser) c.*1685T>C (n.*1685T>C) c.3083T>C (p.Phe1028Ser) c.3065T>C (p.Phe1022Ser) | gnomAD v4 |
| 22 | g.50720919T>G | CA515260665 | SHANK3 | c.2687T>G (p.Phe896Cys) n.3271T>G c.1739T>G (p.Phe580Cys) c.1229T>G (p.Phe410Cys) c.*1685T>G (n.*1685T>G) c.3083T>G (p.Phe1028Cys) c.3065T>G (p.Phe1022Cys) | |
| 22 | g.50720919_50720920delinsTC | CA2411007910 | SHANK3 | c.2687_2688delinsTC (p.Phe896=) n.3271_3272delinsTC c.1739_1740delinsTC (p.Phe580=) c.1229_1230delinsTC (p.Phe410=) c.*1685_*1686delinsTC (n.*1685_*1686delinsTC) c.3083_3084delinsTC (p.Phe1028=) c.3065_3066delinsTC (p.Phe1022=) | |
| 22 | g.50720920C>A | CA515260666 | SHANK3 | c.2688C>A (p.Phe896Leu) n.3272C>A c.1740C>A (p.Phe580Leu) c.1230C>A (p.Phe410Leu) c.*1686C>A (n.*1686C>A) c.3084C>A (p.Phe1028Leu) c.3066C>A (p.Phe1022Leu) | gnomAD v4 |
| 22 | g.50720920C= | CA2411007911 | SHANK3 | c.2688C= (p.Phe896=) n.3272C= c.1740C= (p.Phe580=) c.1230C= (p.Phe410=) c.*1686C= (n.*1686C=) c.3084C= (p.Phe1028=) c.3066C= (p.Phe1022=) | |
| 22 | g.50720920C>G | CA515260667 | SHANK3 | c.2688C>G (p.Phe896Leu) n.3272C>G c.1740C>G (p.Phe580Leu) c.1230C>G (p.Phe410Leu) c.*1686C>G (n.*1686C>G) c.3084C>G (p.Phe1028Leu) c.3066C>G (p.Phe1022Leu) | gnomAD v4 |
| 22 | g.50720920C>T | CA10325953 | SHANK3 | c.2688C>T (p.Phe896=) n.3272C>T c.1740C>T (p.Phe580=) c.1230C>T (p.Phe410=) c.*1686C>T (n.*1686C>T) c.3084C>T (p.Phe1028=) c.3066C>T (p.Phe1022=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720921del | CA1139667203 | SHANK3 | c.2689del (p.Leu897CysfsTer?) n.3273del c.1741del (p.Leu581CysfsTer?) c.1231del (p.Leu411CysfsTer?) c.*1687del (n.*1687del) c.3085del (p.Leu1029CysfsTer?) c.3067del (p.Leu1023CysfsTer?) | ClinVar dbSNP |
| 22 | g.50720921C>A | CA515260668 | SHANK3 | c.2689C>A (p.Leu897Met) n.3273C>A c.1741C>A (p.Leu581Met) c.1231C>A (p.Leu411Met) c.*1687C>A (n.*1687C>A) c.3085C>A (p.Leu1029Met) c.3067C>A (p.Leu1023Met) | gnomAD v4 |
| 22 | g.50720921C= | CA2411007912 | SHANK3 | c.2689C= (p.Leu897=) n.3273C= c.1741C= (p.Leu581=) c.1231C= (p.Leu411=) c.*1687C= (n.*1687C=) c.3085C= (p.Leu1029=) c.3067C= (p.Leu1023=) | |
| 22 | g.50720921C>G | CA515260669 | SHANK3 | c.2689C>G (p.Leu897Val) n.3273C>G c.1741C>G (p.Leu581Val) c.1231C>G (p.Leu411Val) c.*1687C>G (n.*1687C>G) c.3085C>G (p.Leu1029Val) c.3067C>G (p.Leu1023Val) | |
| 22 | g.50720921C>T | CA515260670 | SHANK3 | c.2689C>T (p.Leu897=) n.3273C>T c.1741C>T (p.Leu581=) c.1231C>T (p.Leu411=) c.*1687C>T (n.*1687C>T) c.3085C>T (p.Leu1029=) c.3067C>T (p.Leu1023=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50720922T>A | CA515260671 | SHANK3 | c.2690T>A (p.Leu897Gln) n.3274T>A c.1742T>A (p.Leu581Gln) c.1232T>A (p.Leu411Gln) c.*1688T>A (n.*1688T>A) c.3086T>A (p.Leu1029Gln) c.3068T>A (p.Leu1023Gln) | |
| 22 | g.50720922T>C | CA515260672 | SHANK3 | c.2690T>C (p.Leu897Pro) n.3274T>C c.1742T>C (p.Leu581Pro) c.1232T>C (p.Leu411Pro) c.*1688T>C (n.*1688T>C) c.3086T>C (p.Leu1029Pro) c.3068T>C (p.Leu1023Pro) | dbSNP gnomAD v4 |
| 22 | g.50720922T>G | CA515260673 | SHANK3 | c.2690T>G (p.Leu897Arg) n.3274T>G c.1742T>G (p.Leu581Arg) c.1232T>G (p.Leu411Arg) c.*1688T>G (n.*1688T>G) c.3086T>G (p.Leu1029Arg) c.3068T>G (p.Leu1023Arg) | |
| 22 | g.50720922T= | CA2411007913 | SHANK3 | c.2690T= (p.Leu897=) n.3274T= c.1742T= (p.Leu581=) c.1232T= (p.Leu411=) c.*1688T= (n.*1688T=) c.3086T= (p.Leu1029=) c.3068T= (p.Leu1023=) | |
| 22 | g.50720923G>A | CA515260674 | SHANK3 | c.2691G>A (p.Leu897=) n.3275G>A c.1743G>A (p.Leu581=) c.1233G>A (p.Leu411=) c.*1689G>A (n.*1689G>A) c.3087G>A (p.Leu1029=) c.3069G>A (p.Leu1023=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720923G>C | CA515260676 | SHANK3 | c.2691G>C (p.Leu897=) n.3275G>C c.1743G>C (p.Leu581=) c.1233G>C (p.Leu411=) c.*1689G>C (n.*1689G>C) c.3087G>C (p.Leu1029=) c.3069G>C (p.Leu1023=) | gnomAD v4 |
| 22 | g.50720923G= | CA2411007914 | SHANK3 | c.2691G= (p.Leu897=) n.3275G= c.1743G= (p.Leu581=) c.1233G= (p.Leu411=) c.*1689G= (n.*1689G=) c.3087G= (p.Leu1029=) c.3069G= (p.Leu1023=) | |
| 22 | g.50720923G>T | CA515260675 | SHANK3 | c.2691G>T (p.Leu897=) n.3275G>T c.1743G>T (p.Leu581=) c.1233G>T (p.Leu411=) c.*1689G>T (n.*1689G>T) c.3087G>T (p.Leu1029=) c.3069G>T (p.Leu1023=) | gnomAD v4 |
| 22 | g.50720924T>A | CA515260677 | SHANK3 | c.2692T>A (p.Ser898Thr) n.3276T>A c.1744T>A (p.Ser582Thr) c.1234T>A (p.Ser412Thr) c.*1690T>A (n.*1690T>A) c.3088T>A (p.Ser1030Thr) c.3070T>A (p.Ser1024Thr) | |
| 22 | g.50720924T>C | CA515260679 | SHANK3 | c.2692T>C (p.Ser898Pro) n.3276T>C c.1744T>C (p.Ser582Pro) c.1234T>C (p.Ser412Pro) c.*1690T>C (n.*1690T>C) c.3088T>C (p.Ser1030Pro) c.3070T>C (p.Ser1024Pro) | gnomAD v4 |
| 22 | g.50720924T>G | CA515260678 | SHANK3 | c.2692T>G (p.Ser898Ala) n.3276T>G c.1744T>G (p.Ser582Ala) c.1234T>G (p.Ser412Ala) c.*1690T>G (n.*1690T>G) c.3088T>G (p.Ser1030Ala) c.3070T>G (p.Ser1024Ala) | |
| 22 | g.50720925C>A | CA515260680 | SHANK3 | c.2693C>A (p.Ser898Tyr) n.3277C>A c.1745C>A (p.Ser582Tyr) c.1235C>A (p.Ser412Tyr) c.*1691C>A (n.*1691C>A) c.3089C>A (p.Ser1030Tyr) c.3071C>A (p.Ser1024Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50720925C= | CA2411007915 | SHANK3 | c.2693C= (p.Ser898=) n.3277C= c.1745C= (p.Ser582=) c.1235C= (p.Ser412=) c.*1691C= (n.*1691C=) c.3089C= (p.Ser1030=) c.3071C= (p.Ser1024=) | |
| 22 | g.50720925C>G | CA515260682 | SHANK3 | c.2693C>G (p.Ser898Cys) n.3277C>G c.1745C>G (p.Ser582Cys) c.1235C>G (p.Ser412Cys) c.*1691C>G (n.*1691C>G) c.3089C>G (p.Ser1030Cys) c.3071C>G (p.Ser1024Cys) | gnomAD v4 |
| 22 | g.50720925C>T | CA515260681 | SHANK3 | c.2693C>T (p.Ser898Phe) n.3277C>T c.1745C>T (p.Ser582Phe) c.1235C>T (p.Ser412Phe) c.*1691C>T (n.*1691C>T) c.3089C>T (p.Ser1030Phe) c.3071C>T (p.Ser1024Phe) | gnomAD v4 |
| 22 | g.50720926C>A | CA515260683 | SHANK3 | c.2694C>A (p.Ser898=) n.3278C>A c.1746C>A (p.Ser582=) c.1236C>A (p.Ser412=) c.*1692C>A (n.*1692C>A) c.3090C>A (p.Ser1030=) c.3072C>A (p.Ser1024=) | gnomAD v4 |
| 22 | g.50720926C= | CA2411007916 | SHANK3 | c.2694C= (p.Ser898=) n.3278C= c.1746C= (p.Ser582=) c.1236C= (p.Ser412=) c.*1692C= (n.*1692C=) c.3090C= (p.Ser1030=) c.3072C= (p.Ser1024=) | |
| 22 | g.50720926C>G | CA515260684 | SHANK3 | c.2694C>G (p.Ser898=) n.3278C>G c.1746C>G (p.Ser582=) c.1236C>G (p.Ser412=) c.*1692C>G (n.*1692C>G) c.3090C>G (p.Ser1030=) c.3072C>G (p.Ser1024=) | dbSNP gnomAD v4 |
| 22 | g.50720926C>T | CA515260685 | SHANK3 | c.2694C>T (p.Ser898=) n.3278C>T c.1746C>T (p.Ser582=) c.1236C>T (p.Ser412=) c.*1692C>T (n.*1692C>T) c.3090C>T (p.Ser1030=) c.3072C>T (p.Ser1024=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50720927G>A | CA515260686 | SHANK3 | c.2695G>A (p.Val899Met) n.3279G>A c.1747G>A (p.Val583Met) c.1237G>A (p.Val413Met) c.*1693G>A (n.*1693G>A) c.3091G>A (p.Val1031Met) c.3073G>A (p.Val1025Met) | gnomAD v4 |
| 22 | g.50720927G>C | CA515260687 | SHANK3 | c.2695G>C (p.Val899Leu) n.3279G>C c.1747G>C (p.Val583Leu) c.1237G>C (p.Val413Leu) c.*1693G>C (n.*1693G>C) c.3091G>C (p.Val1031Leu) c.3073G>C (p.Val1025Leu) | gnomAD v4 |
| 22 | g.50720927G>T | CA515260688 | SHANK3 | c.2695G>T (p.Val899Leu) n.3279G>T c.1747G>T (p.Val583Leu) c.1237G>T (p.Val413Leu) c.*1693G>T (n.*1693G>T) c.3091G>T (p.Val1031Leu) c.3073G>T (p.Val1025Leu) | gnomAD v4 |
| 22 | g.50720928T>A | CA515260689 | SHANK3 | c.2696T>A (p.Val899Glu) n.3280T>A c.1748T>A (p.Val583Glu) c.1238T>A (p.Val413Glu) c.*1694T>A (n.*1694T>A) c.3092T>A (p.Val1031Glu) c.3074T>A (p.Val1025Glu) | |
| 22 | g.50720928T>C | CA515260690 | SHANK3 | c.2696T>C (p.Val899Ala) n.3280T>C c.1748T>C (p.Val583Ala) c.1238T>C (p.Val413Ala) c.*1694T>C (n.*1694T>C) c.3092T>C (p.Val1031Ala) c.3074T>C (p.Val1025Ala) | |
| 22 | g.50720928T>G | CA515260691 | SHANK3 | c.2696T>G (p.Val899Gly) n.3280T>G c.1748T>G (p.Val583Gly) c.1238T>G (p.Val413Gly) c.*1694T>G (n.*1694T>G) c.3092T>G (p.Val1031Gly) c.3074T>G (p.Val1025Gly) | |
| 22 | g.50720928_50720929delinsTG | CA2411007917 | SHANK3 | c.2696_2697delinsTG (p.Val899=) n.3280_3281delinsTG c.1748_1749delinsTG (p.Val583=) c.1238_1239delinsTG (p.Val413=) c.*1694_*1695delinsTG (n.*1694_*1695delinsTG) c.3092_3093delinsTG (p.Val1031=) c.3074_3075delinsTG (p.Val1025=) | |
| 22 | g.50720929G>A | CA515260692 | SHANK3 | c.2697G>A (p.Val899=) n.3281G>A c.1749G>A (p.Val583=) c.1239G>A (p.Val413=) c.*1695G>A (n.*1695G>A) c.3093G>A (p.Val1031=) c.3075G>A (p.Val1025=) | dbSNP gnomAD v4 |
| 22 | g.50720929G>C | CA515260693 | SHANK3 | c.2697G>C (p.Val899=) n.3281G>C c.1749G>C (p.Val583=) c.1239G>C (p.Val413=) c.*1695G>C (n.*1695G>C) c.3093G>C (p.Val1031=) c.3075G>C (p.Val1025=) | |
| 22 | g.50720929G= | CA2411007918 | SHANK3 | c.2697G= (p.Val899=) n.3281G= c.1749G= (p.Val583=) c.1239G= (p.Val413=) c.*1695G= (n.*1695G=) c.3093G= (p.Val1031=) c.3075G= (p.Val1025=) | |
| 22 | g.50720929G>T | CA515260694 | SHANK3 | c.2697G>T (p.Val899=) n.3281G>T c.1749G>T (p.Val583=) c.1239G>T (p.Val413=) c.*1695G>T (n.*1695G>T) c.3093G>T (p.Val1031=) c.3075G>T (p.Val1025=) | gnomAD v4 |
| 22 | g.50720933del | CA1139667204 | SHANK3 | c.2701del (p.Ala901ProfsTer?) n.3285del c.1753del (p.Ala585ProfsTer?) c.1243del (p.Ala415ProfsTer?) c.*1699del (n.*1699del) c.3097del (p.Ala1033ProfsTer?) c.3079del (p.Ala1027ProfsTer?) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50720930G>A | CA10581340 | SHANK3 | c.2698G>A (p.Gly900Arg) n.3282G>A c.1750G>A (p.Gly584Arg) c.1240G>A (p.Gly414Arg) c.*1696G>A (n.*1696G>A) c.3094G>A (p.Gly1032Arg) c.3076G>A (p.Gly1026Arg) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50720930G>C | CA515260696 | SHANK3 | c.2698G>C (p.Gly900Arg) n.3282G>C c.1750G>C (p.Gly584Arg) c.1240G>C (p.Gly414Arg) c.*1696G>C (n.*1696G>C) c.3094G>C (p.Gly1032Arg) c.3076G>C (p.Gly1026Arg) | |
| 22 | g.50720930G= | CA2411007919 | SHANK3 | c.2698G= (p.Gly900=) n.3282G= c.1750G= (p.Gly584=) c.1240G= (p.Gly414=) c.*1696G= (n.*1696G=) c.3094G= (p.Gly1032=) c.3076G= (p.Gly1026=) | |
| 22 | g.50720930G>T | CA515260695 | SHANK3 | c.2698G>T (p.Gly900Trp) n.3282G>T c.1750G>T (p.Gly584Trp) c.1240G>T (p.Gly414Trp) c.*1696G>T (n.*1696G>T) c.3094G>T (p.Gly1032Trp) c.3076G>T (p.Gly1026Trp) | gnomAD v4 |
| 22 | g.50720931G>A | CA515260697 | SHANK3 | c.2699G>A (p.Gly900Glu) n.3283G>A c.1751G>A (p.Gly584Glu) c.1241G>A (p.Gly414Glu) c.*1697G>A (n.*1697G>A) c.3095G>A (p.Gly1032Glu) c.3077G>A (p.Gly1026Glu) | gnomAD v4 |
| 22 | g.50720931G>C | CA515260698 | SHANK3 | c.2699G>C (p.Gly900Ala) n.3283G>C c.1751G>C (p.Gly584Ala) c.1241G>C (p.Gly414Ala) c.*1697G>C (n.*1697G>C) c.3095G>C (p.Gly1032Ala) c.3077G>C (p.Gly1026Ala) | |
| 22 | g.50720931G>T | CA515260699 | SHANK3 | c.2699G>T (p.Gly900Val) n.3283G>T c.1751G>T (p.Gly584Val) c.1241G>T (p.Gly414Val) c.*1697G>T (n.*1697G>T) c.3095G>T (p.Gly1032Val) c.3077G>T (p.Gly1026Val) | gnomAD v4 |
| 22 | g.50720931_50720956delinsGGGCCATCGAGGGCAGCGCCCCCGGC | CA2411007920 | SHANK3 | c.2699_2724delinsGGGCCATCGAGGGCAGCGCCCCCGGC (p.Gly900=) n.3283_3308delinsGGGCCATCGAGGGCAGCGCCCCCGGC c.1751_1776delinsGGGCCATCGAGGGCAGCGCCCCCGGC (p.Gly584=) c.1241_1266delinsGGGCCATCGAGGGCAGCGCCCCCGGC (p.Gly414=) c.*1697_*1722delinsGGGCCATCGAGGGCAGCGCCCCCGGC (n.*1697_*1722delinsGGGCCATCGAGGGCAGCGCCCCCGGC) c.3095_3120delinsGGGCCATCGAGGGCAGCGCCCCCGGC (p.Gly1032=) c.3077_3102delinsGGGCCATCGAGGGCAGCGCCCCCGGC (p.Gly1026=) | |
| 22 | g.50720932G>A | CA325578458 | SHANK3 | c.2700G>A (p.Gly900=) n.3284G>A c.1752G>A (p.Gly584=) c.1242G>A (p.Gly414=) c.*1698G>A (n.*1698G>A) c.3096G>A (p.Gly1032=) c.3078G>A (p.Gly1026=) | dbSNP gnomAD v4 |
| 22 | g.50720932G>C | CA515260700 | SHANK3 | c.2700G>C (p.Gly900=) n.3284G>C c.1752G>C (p.Gly584=) c.1242G>C (p.Gly414=) c.*1698G>C (n.*1698G>C) c.3096G>C (p.Gly1032=) c.3078G>C (p.Gly1026=) | |
| 22 | g.50720932G= | CA2411007921 | SHANK3 | c.2700G= (p.Gly900=) n.3284G= c.1752G= (p.Gly584=) c.1242G= (p.Gly414=) c.*1698G= (n.*1698G=) c.3096G= (p.Gly1032=) c.3078G= (p.Gly1026=) | |
| 22 | g.50720932G>T | CA515260701 | SHANK3 | c.2700G>T (p.Gly900=) n.3284G>T c.1752G>T (p.Gly584=) c.1242G>T (p.Gly414=) c.*1698G>T (n.*1698G>T) c.3096G>T (p.Gly1032=) c.3078G>T (p.Gly1026=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50720933_50720957del | CA915951508 | SHANK3 | c.2701_2725del (p.Ala901ArgfsTer?) n.3285_3309del c.1753_1777del (p.Ala585ArgfsTer?) c.1243_1267del (p.Ala415ArgfsTer?) c.*1699_*1723del (n.*1699_*1723del) c.3097_3121del (p.Ala1033ArgfsTer?) c.3079_3103del (p.Ala1027ArgfsTer?) | ClinVar dbSNP |
| 22 | g.50720933G>A | CA515260702 | SHANK3 | c.2701G>A (p.Ala901Thr) n.3285G>A c.1753G>A (p.Ala585Thr) c.1243G>A (p.Ala415Thr) c.*1699G>A (n.*1699G>A) c.3097G>A (p.Ala1033Thr) c.3079G>A (p.Ala1027Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50720933G>C | CA515260703 | SHANK3 | c.2701G>C (p.Ala901Pro) n.3285G>C c.1753G>C (p.Ala585Pro) c.1243G>C (p.Ala415Pro) c.*1699G>C (n.*1699G>C) c.3097G>C (p.Ala1033Pro) c.3079G>C (p.Ala1027Pro) | gnomAD v4 |
| 22 | g.50720933G= | CA2411007922 | SHANK3 | c.2701G= (p.Ala901=) n.3285G= c.1753G= (p.Ala585=) c.1243G= (p.Ala415=) c.*1699G= (n.*1699G=) c.3097G= (p.Ala1033=) c.3079G= (p.Ala1027=) | |
| 22 | g.50720933G>T | CA515260704 | SHANK3 | c.2701G>T (p.Ala901Ser) n.3285G>T c.1753G>T (p.Ala585Ser) c.1243G>T (p.Ala415Ser) c.*1699G>T (n.*1699G>T) c.3097G>T (p.Ala1033Ser) c.3079G>T (p.Ala1027Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720934C>A | CA515260706 | SHANK3 | c.2702C>A (p.Ala901Asp) n.3286C>A c.1754C>A (p.Ala585Asp) c.1244C>A (p.Ala415Asp) c.*1700C>A (n.*1700C>A) c.3098C>A (p.Ala1033Asp) c.3080C>A (p.Ala1027Asp) | gnomAD v4 |
| 22 | g.50720934C>G | CA515260707 | SHANK3 | c.2702C>G (p.Ala901Gly) n.3286C>G c.1754C>G (p.Ala585Gly) c.1244C>G (p.Ala415Gly) c.*1700C>G (n.*1700C>G) c.3098C>G (p.Ala1033Gly) c.3080C>G (p.Ala1027Gly) | |
| 22 | g.50720934C>T | CA515260705 | SHANK3 | c.2702C>T (p.Ala901Val) n.3286C>T c.1754C>T (p.Ala585Val) c.1244C>T (p.Ala415Val) c.*1700C>T (n.*1700C>T) c.3098C>T (p.Ala1033Val) c.3080C>T (p.Ala1027Val) | gnomAD v4 |
| 22 | g.50720935C>A | CA515260708 | SHANK3 | c.2703C>A (p.Ala901=) n.3287C>A c.1755C>A (p.Ala585=) c.1245C>A (p.Ala415=) c.*1701C>A (n.*1701C>A) c.3099C>A (p.Ala1033=) c.3081C>A (p.Ala1027=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50720935C= | CA2411007923 | SHANK3 | c.2703C= (p.Ala901=) n.3287C= c.1755C= (p.Ala585=) c.1245C= (p.Ala415=) c.*1701C= (n.*1701C=) c.3099C= (p.Ala1033=) c.3081C= (p.Ala1027=) | |
| 22 | g.50720935C>G | CA515260709 | SHANK3 | c.2703C>G (p.Ala901=) n.3287C>G c.1755C>G (p.Ala585=) c.1245C>G (p.Ala415=) c.*1701C>G (n.*1701C>G) c.3099C>G (p.Ala1033=) c.3081C>G (p.Ala1027=) | |
| 22 | g.50720935C>T | CA515260710 | SHANK3 | c.2703C>T (p.Ala901=) n.3287C>T c.1755C>T (p.Ala585=) c.1245C>T (p.Ala415=) c.*1701C>T (n.*1701C>T) c.3099C>T (p.Ala1033=) c.3081C>T (p.Ala1027=) | dbSNP gnomAD v4 |
| 22 | g.50720936A= | CA2411007924 | SHANK3 | c.2704A= (p.Ile902=) n.3288A= c.1756A= (p.Ile586=) c.1246A= (p.Ile416=) c.*1702A= (n.*1702A=) c.3100A= (p.Ile1034=) c.3082A= (p.Ile1028=) | |
| 22 | g.50720936A>C | CA515260711 | SHANK3 | c.2704A>C (p.Ile902Leu) n.3288A>C c.1756A>C (p.Ile586Leu) c.1246A>C (p.Ile416Leu) c.*1702A>C (n.*1702A>C) c.3100A>C (p.Ile1034Leu) c.3082A>C (p.Ile1028Leu) | gnomAD v4 |
| 22 | g.50720936A>G | CA515260712 | SHANK3 | c.2704A>G (p.Ile902Val) n.3288A>G c.1756A>G (p.Ile586Val) c.1246A>G (p.Ile416Val) c.*1702A>G (n.*1702A>G) c.3100A>G (p.Ile1034Val) c.3082A>G (p.Ile1028Val) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50720936A>T | CA515260713 | SHANK3 | c.2704A>T (p.Ile902Phe) n.3288A>T c.1756A>T (p.Ile586Phe) c.1246A>T (p.Ile416Phe) c.*1702A>T (n.*1702A>T) c.3100A>T (p.Ile1034Phe) c.3082A>T (p.Ile1028Phe) | |
| 22 | g.50720937T>A | CA515260714 | SHANK3 | c.2705T>A (p.Ile902Asn) n.3289T>A c.1757T>A (p.Ile586Asn) c.1247T>A (p.Ile416Asn) c.*1703T>A (n.*1703T>A) c.3101T>A (p.Ile1034Asn) c.3083T>A (p.Ile1028Asn) | |
| 22 | g.50720937T>C | CA515260715 | SHANK3 | c.2705T>C (p.Ile902Thr) n.3289T>C c.1757T>C (p.Ile586Thr) c.1247T>C (p.Ile416Thr) c.*1703T>C (n.*1703T>C) c.3101T>C (p.Ile1034Thr) c.3083T>C (p.Ile1028Thr) | gnomAD v4 |
| 22 | g.50720937T>G | CA515260716 | SHANK3 | c.2705T>G (p.Ile902Ser) n.3289T>G c.1757T>G (p.Ile586Ser) c.1247T>G (p.Ile416Ser) c.*1703T>G (n.*1703T>G) c.3101T>G (p.Ile1034Ser) c.3083T>G (p.Ile1028Ser) | |
| 22 | g.50720938C>A | CA515260717 | SHANK3 | c.2706C>A (p.Ile902=) n.3290C>A c.1758C>A (p.Ile586=) c.1248C>A (p.Ile416=) c.*1704C>A (n.*1704C>A) c.3102C>A (p.Ile1034=) c.3084C>A (p.Ile1028=) | gnomAD v4 |
| 22 | g.50720938C= | CA2411007925 | SHANK3 | c.2706C= (p.Ile902=) n.3290C= c.1758C= (p.Ile586=) c.1248C= (p.Ile416=) c.*1704C= (n.*1704C=) c.3102C= (p.Ile1034=) c.3084C= (p.Ile1028=) | |
| 22 | g.50720938C>G | CA515260718 | SHANK3 | c.2706C>G (p.Ile902Met) n.3290C>G c.1758C>G (p.Ile586Met) c.1248C>G (p.Ile416Met) c.*1704C>G (n.*1704C>G) c.3102C>G (p.Ile1034Met) c.3084C>G (p.Ile1028Met) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50720938C>T | CA515260719 | SHANK3 | c.2706C>T (p.Ile902=) n.3290C>T c.1758C>T (p.Ile586=) c.1248C>T (p.Ile416=) c.*1704C>T (n.*1704C>T) c.3102C>T (p.Ile1034=) c.3084C>T (p.Ile1028=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720939G>A | CA515260722 | SHANK3 | c.2707G>A (p.Glu903Lys) n.3291G>A c.1759G>A (p.Glu587Lys) c.1249G>A (p.Glu417Lys) c.*1705G>A (n.*1705G>A) c.3103G>A (p.Glu1035Lys) c.3085G>A (p.Glu1029Lys) | gnomAD v4 |
| 22 | g.50720939G>C | CA515260720 | SHANK3 | c.2707G>C (p.Glu903Gln) n.3291G>C c.1759G>C (p.Glu587Gln) c.1249G>C (p.Glu417Gln) c.*1705G>C (n.*1705G>C) c.3103G>C (p.Glu1035Gln) c.3085G>C (p.Glu1029Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50720939G= | CA2411007926 | SHANK3 | c.2707G= (p.Glu903=) n.3291G= c.1759G= (p.Glu587=) c.1249G= (p.Glu417=) c.*1705G= (n.*1705G=) c.3103G= (p.Glu1035=) c.3085G= (p.Glu1029=) | |
| 22 | g.50720939G>T | CA515260721 | SHANK3 | c.2707G>T (p.Glu903Ter) n.3291G>T c.1759G>T (p.Glu587Ter) c.1249G>T (p.Glu417Ter) c.*1705G>T (n.*1705G>T) c.3103G>T (p.Glu1035Ter) c.3085G>T (p.Glu1029Ter) | gnomAD v4 |
| 22 | g.50720940A>C | CA515260723 | SHANK3 | c.2708A>C (p.Glu903Ala) n.3292A>C c.1760A>C (p.Glu587Ala) c.1250A>C (p.Glu417Ala) c.*1706A>C (n.*1706A>C) c.3104A>C (p.Glu1035Ala) c.3086A>C (p.Glu1029Ala) | |
| 22 | g.50720940A>G | CA515260724 | SHANK3 | c.2708A>G (p.Glu903Gly) n.3292A>G c.1760A>G (p.Glu587Gly) c.1250A>G (p.Glu417Gly) c.*1706A>G (n.*1706A>G) c.3104A>G (p.Glu1035Gly) c.3086A>G (p.Glu1029Gly) | gnomAD v4 |
| 22 | g.50720940A>T | CA515260725 | SHANK3 | c.2708A>T (p.Glu903Val) n.3292A>T c.1760A>T (p.Glu587Val) c.1250A>T (p.Glu417Val) c.*1706A>T (n.*1706A>T) c.3104A>T (p.Glu1035Val) c.3086A>T (p.Glu1029Val) | |
| 22 | g.50720941G>A | CA515260726 | SHANK3 | c.2709G>A (p.Glu903=) n.3293G>A c.1761G>A (p.Glu587=) c.1251G>A (p.Glu417=) c.*1707G>A (n.*1707G>A) c.3105G>A (p.Glu1035=) c.3087G>A (p.Glu1029=) | gnomAD v4 |
| 22 | g.50720941G>C | CA515260727 | SHANK3 | c.2709G>C (p.Glu903Asp) n.3293G>C c.1761G>C (p.Glu587Asp) c.1251G>C (p.Glu417Asp) c.*1707G>C (n.*1707G>C) c.3105G>C (p.Glu1035Asp) c.3087G>C (p.Glu1029Asp) | |
| 22 | g.50720941G>T | CA515260728 | SHANK3 | c.2709G>T (p.Glu903Asp) n.3293G>T c.1761G>T (p.Glu587Asp) c.1251G>T (p.Glu417Asp) c.*1707G>T (n.*1707G>T) c.3105G>T (p.Glu1035Asp) c.3087G>T (p.Glu1029Asp) | gnomAD v4 |
| 22 | g.50720943del | CA2657583420 | SHANK3 | c.2711del (p.Gly904AlafsTer?) n.3295del c.1763del (p.Gly588AlafsTer?) c.1253del (p.Gly418AlafsTer?) c.*1709del (n.*1709del) c.3107del (p.Gly1036AlafsTer?) c.3089del (p.Gly1030AlafsTer?) | gnomAD v4 |
| 22 | g.50720942G>A | CA515260730 | SHANK3 | c.2710G>A (p.Gly904Ser) n.3294G>A c.1762G>A (p.Gly588Ser) c.1252G>A (p.Gly418Ser) c.*1708G>A (n.*1708G>A) c.3106G>A (p.Gly1036Ser) c.3088G>A (p.Gly1030Ser) | gnomAD v4 |
| 22 | g.50720942G>C | CA515260731 | SHANK3 | c.2710G>C (p.Gly904Arg) n.3294G>C c.1762G>C (p.Gly588Arg) c.1252G>C (p.Gly418Arg) c.*1708G>C (n.*1708G>C) c.3106G>C (p.Gly1036Arg) c.3088G>C (p.Gly1030Arg) | |
| 22 | g.50720942G>T | CA515260732 | SHANK3 | c.2710G>T (p.Gly904Cys) n.3294G>T c.1762G>T (p.Gly588Cys) c.1252G>T (p.Gly418Cys) c.*1708G>T (n.*1708G>T) c.3106G>T (p.Gly1036Cys) c.3088G>T (p.Gly1030Cys) | gnomAD v4 |
| 22 | g.50720943G>A | CA515260733 | SHANK3 | c.2711G>A (p.Gly904Asp) n.3295G>A c.1763G>A (p.Gly588Asp) c.1253G>A (p.Gly418Asp) c.*1709G>A (n.*1709G>A) c.3107G>A (p.Gly1036Asp) c.3089G>A (p.Gly1030Asp) | gnomAD v4 |
| 22 | g.50720943G>C | CA515260734 | SHANK3 | c.2711G>C (p.Gly904Ala) n.3295G>C c.1763G>C (p.Gly588Ala) c.1253G>C (p.Gly418Ala) c.*1709G>C (n.*1709G>C) c.3107G>C (p.Gly1036Ala) c.3089G>C (p.Gly1030Ala) | |
| 22 | g.50720943G= | CA2411007927 | SHANK3 | c.2711G= (p.Gly904=) n.3295G= c.1763G= (p.Gly588=) c.1253G= (p.Gly418=) c.*1709G= (n.*1709G=) c.3107G= (p.Gly1036=) c.3089G= (p.Gly1030=) | |
| 22 | g.50720943G>T | CA515260735 | SHANK3 | c.2711G>T (p.Gly904Val) n.3295G>T c.1763G>T (p.Gly588Val) c.1253G>T (p.Gly418Val) c.*1709G>T (n.*1709G>T) c.3107G>T (p.Gly1036Val) c.3089G>T (p.Gly1030Val) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50720944C>A | CA515260738 | SHANK3 | c.2712C>A (p.Gly904=) n.3296C>A c.1764C>A (p.Gly588=) c.1254C>A (p.Gly418=) c.*1710C>A (n.*1710C>A) c.3108C>A (p.Gly1036=) c.3090C>A (p.Gly1030=) | |
| 22 | g.50720944C>G | CA515260737 | SHANK3 | c.2712C>G (p.Gly904=) n.3296C>G c.1764C>G (p.Gly588=) c.1254C>G (p.Gly418=) c.*1710C>G (n.*1710C>G) c.3108C>G (p.Gly1036=) c.3090C>G (p.Gly1030=) | |
| 22 | g.50720944C>T | CA515260736 | SHANK3 | c.2712C>T (p.Gly904=) n.3296C>T c.1764C>T (p.Gly588=) c.1254C>T (p.Gly418=) c.*1710C>T (n.*1710C>T) c.3108C>T (p.Gly1036=) c.3090C>T (p.Gly1030=) | gnomAD v4 |
| 22 | g.50720945A= | CA2411007928 | SHANK3 | c.2713A= (p.Ser905=) n.3297A= c.1765A= (p.Ser589=) c.1255A= (p.Ser419=) c.*1711A= (n.*1711A=) c.3109A= (p.Ser1037=) c.3091A= (p.Ser1031=) | |
| 22 | g.50720945A>C | CA515260739 | SHANK3 | c.2713A>C (p.Ser905Arg) n.3297A>C c.1765A>C (p.Ser589Arg) c.1255A>C (p.Ser419Arg) c.*1711A>C (n.*1711A>C) c.3109A>C (p.Ser1037Arg) c.3091A>C (p.Ser1031Arg) | |
| 22 | g.50720945A>G | CA325578461 | SHANK3 | c.2713A>G (p.Ser905Gly) n.3297A>G c.1765A>G (p.Ser589Gly) c.1255A>G (p.Ser419Gly) c.*1711A>G (n.*1711A>G) c.3109A>G (p.Ser1037Gly) c.3091A>G (p.Ser1031Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720945A>T | CA515260740 | SHANK3 | c.2713A>T (p.Ser905Cys) n.3297A>T c.1765A>T (p.Ser589Cys) c.1255A>T (p.Ser419Cys) c.*1711A>T (n.*1711A>T) c.3109A>T (p.Ser1037Cys) c.3091A>T (p.Ser1031Cys) | |
| 22 | g.50720946G>A | CA515260741 | SHANK3 | c.2714G>A (p.Ser905Asn) n.3298G>A c.1766G>A (p.Ser589Asn) c.1256G>A (p.Ser419Asn) c.*1712G>A (n.*1712G>A) c.3110G>A (p.Ser1037Asn) c.3092G>A (p.Ser1031Asn) | gnomAD v4 |
| 22 | g.50720946G>C | CA515260742 | SHANK3 | c.2714G>C (p.Ser905Thr) n.3298G>C c.1766G>C (p.Ser589Thr) c.1256G>C (p.Ser419Thr) c.*1712G>C (n.*1712G>C) c.3110G>C (p.Ser1037Thr) c.3092G>C (p.Ser1031Thr) | dbSNP gnomAD v4 |
| 22 | g.50720946G= | CA2411007929 | SHANK3 | c.2714G= (p.Ser905=) n.3298G= c.1766G= (p.Ser589=) c.1256G= (p.Ser419=) c.*1712G= (n.*1712G=) c.3110G= (p.Ser1037=) c.3092G= (p.Ser1031=) | |
| 22 | g.50720946G>T | CA515260743 | SHANK3 | c.2714G>T (p.Ser905Ile) n.3298G>T c.1766G>T (p.Ser589Ile) c.1256G>T (p.Ser419Ile) c.*1712G>T (n.*1712G>T) c.3110G>T (p.Ser1037Ile) c.3092G>T (p.Ser1031Ile) | gnomAD v4 |
| 22 | g.50720947C>A | CA10325955 | SHANK3 | c.2715C>A (p.Ser905Arg) n.3299C>A c.1767C>A (p.Ser589Arg) c.1257C>A (p.Ser419Arg) c.*1713C>A (n.*1713C>A) c.3111C>A (p.Ser1037Arg) c.3093C>A (p.Ser1031Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50720947C= | CA2411007930 | SHANK3 | c.2715C= (p.Ser905=) n.3299C= c.1767C= (p.Ser589=) c.1257C= (p.Ser419=) c.*1713C= (n.*1713C=) c.3111C= (p.Ser1037=) c.3093C= (p.Ser1031=) | |
| 22 | g.50720947C>G | CA515260744 | SHANK3 | c.2715C>G (p.Ser905Arg) n.3299C>G c.1767C>G (p.Ser589Arg) c.1257C>G (p.Ser419Arg) c.*1713C>G (n.*1713C>G) c.3111C>G (p.Ser1037Arg) c.3093C>G (p.Ser1031Arg) | |
| 22 | g.50720947C>T | CA10325954 | SHANK3 | c.2715C>T (p.Ser905=) n.3299C>T c.1767C>T (p.Ser589=) c.1257C>T (p.Ser419=) c.*1713C>T (n.*1713C>T) c.3111C>T (p.Ser1037=) c.3093C>T (p.Ser1031=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720948G>A | CA10325956 | SHANK3 | c.2716G>A (p.Ala906Thr) n.3300G>A c.1768G>A (p.Ala590Thr) c.1258G>A (p.Ala420Thr) c.*1714G>A (n.*1714G>A) c.3112G>A (p.Ala1038Thr) c.3094G>A (p.Ala1032Thr) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 22 | g.50720948G>C | CA515260746 | SHANK3 | c.2716G>C (p.Ala906Pro) n.3300G>C c.1768G>C (p.Ala590Pro) c.1258G>C (p.Ala420Pro) c.*1714G>C (n.*1714G>C) c.3112G>C (p.Ala1038Pro) c.3094G>C (p.Ala1032Pro) | gnomAD v4 |
| 22 | g.50720948G= | CA2411007931 | SHANK3 | c.2716G= (p.Ala906=) n.3300G= c.1768G= (p.Ala590=) c.1258G= (p.Ala420=) c.*1714G= (n.*1714G=) c.3112G= (p.Ala1038=) c.3094G= (p.Ala1032=) | |
| 22 | g.50720948G>T | CA515260747 | SHANK3 | c.2716G>T (p.Ala906Ser) n.3300G>T c.1768G>T (p.Ala590Ser) c.1258G>T (p.Ala420Ser) c.*1714G>T (n.*1714G>T) c.3112G>T (p.Ala1038Ser) c.3094G>T (p.Ala1032Ser) | |
| 22 | g.50720948_50720949delinsGC | CA2411007932 | SHANK3 | c.2716_2717delinsGC (p.Ala906=) n.3300_3301delinsGC c.1768_1769delinsGC (p.Ala590=) c.1258_1259delinsGC (p.Ala420=) c.*1714_*1715delinsGC (n.*1714_*1715delinsGC) c.3112_3113delinsGC (p.Ala1038=) c.3094_3095delinsGC (p.Ala1032=) | |
| 22 | g.50720949C>A | CA515260748 | SHANK3 | c.2717C>A (p.Ala906Asp) n.3301C>A c.1769C>A (p.Ala590Asp) c.1259C>A (p.Ala420Asp) c.*1715C>A (n.*1715C>A) c.3113C>A (p.Ala1038Asp) c.3095C>A (p.Ala1032Asp) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50720949C= | CA2411007933 | SHANK3 | c.2717C= (p.Ala906=) n.3301C= c.1769C= (p.Ala590=) c.1259C= (p.Ala420=) c.*1715C= (n.*1715C=) c.3113C= (p.Ala1038=) c.3095C= (p.Ala1032=) | |
| 22 | g.50720949C>G | CA515260749 | SHANK3 | c.2717C>G (p.Ala906Gly) n.3301C>G c.1769C>G (p.Ala590Gly) c.1259C>G (p.Ala420Gly) c.*1715C>G (n.*1715C>G) c.3113C>G (p.Ala1038Gly) c.3095C>G (p.Ala1032Gly) | |
| 22 | g.50720949C>T | CA10325957 | SHANK3 | c.2717C>T (p.Ala906Val) n.3301C>T c.1769C>T (p.Ala590Val) c.1259C>T (p.Ala420Val) c.*1715C>T (n.*1715C>T) c.3113C>T (p.Ala1038Val) c.3095C>T (p.Ala1032Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720953dup | CA2657583421 | SHANK3 | c.2721dup (p.Gly908ArgfsTer?) n.3305dup c.1773dup (p.Gly592ArgfsTer?) c.1263dup (p.Gly422ArgfsTer?) c.*1719dup (n.*1719dup) c.3117dup (p.Gly1040ArgfsTer?) c.3099dup (p.Gly1034ArgfsTer?) | gnomAD v4 |
| 22 | g.50720953del | CA640358971 | SHANK3 | c.2721del (p.Gly908AlafsTer?) n.3305del c.1773del (p.Gly592AlafsTer?) c.1263del (p.Gly422AlafsTer?) c.*1719del (n.*1719del) c.3117del (p.Gly1040AlafsTer?) c.3099del (p.Gly1034AlafsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50720950C>A | CA515260750 | SHANK3 | c.2718C>A (p.Ala906=) n.3302C>A c.1770C>A (p.Ala590=) c.1260C>A (p.Ala420=) c.*1716C>A (n.*1716C>A) c.3114C>A (p.Ala1038=) c.3096C>A (p.Ala1032=) | gnomAD v4 |
| 22 | g.50720950C= | CA2411007934 | SHANK3 | c.2718C= (p.Ala906=) n.3302C= c.1770C= (p.Ala590=) c.1260C= (p.Ala420=) c.*1716C= (n.*1716C=) c.3114C= (p.Ala1038=) c.3096C= (p.Ala1032=) | |
| 22 | g.50720950C>G | CA515260752 | SHANK3 | c.2718C>G (p.Ala906=) n.3302C>G c.1770C>G (p.Ala590=) c.1260C>G (p.Ala420=) c.*1716C>G (n.*1716C>G) c.3114C>G (p.Ala1038=) c.3096C>G (p.Ala1032=) | |
| 22 | g.50720950C>T | CA515260751 | SHANK3 | c.2718C>T (p.Ala906=) n.3302C>T c.1770C>T (p.Ala590=) c.1260C>T (p.Ala420=) c.*1716C>T (n.*1716C>T) c.3114C>T (p.Ala1038=) c.3096C>T (p.Ala1032=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50720950_50720951insT | CA2552505268 | SHANK3 | c.2718_2719insT (p.Pro907SerfsTer?) n.3302_3303insT c.1770_1771insT (p.Pro591SerfsTer?) c.1260_1261insT (p.Pro421SerfsTer?) c.*1716_*1717insT (n.*1716_*1717insT) c.3114_3115insT (p.Pro1039SerfsTer?) c.3096_3097insT (p.Pro1033SerfsTer?) | |
| 22 | g.50720951C>A | CA515260753 | SHANK3 | c.2719C>A (p.Pro907Thr) n.3303C>A c.1771C>A (p.Pro591Thr) c.1261C>A (p.Pro421Thr) c.*1717C>A (n.*1717C>A) c.3115C>A (p.Pro1039Thr) c.3097C>A (p.Pro1033Thr) | gnomAD v4 |
| 22 | g.50720951C= | CA2411007935 | SHANK3 | c.2719C= (p.Pro907=) n.3303C= c.1771C= (p.Pro591=) c.1261C= (p.Pro421=) c.*1717C= (n.*1717C=) c.3115C= (p.Pro1039=) c.3097C= (p.Pro1033=) | |
| 22 | g.50720951C>G | CA515260754 | SHANK3 | c.2719C>G (p.Pro907Ala) n.3303C>G c.1771C>G (p.Pro591Ala) c.1261C>G (p.Pro421Ala) c.*1717C>G (n.*1717C>G) c.3115C>G (p.Pro1039Ala) c.3097C>G (p.Pro1033Ala) | gnomAD v4 |
| 22 | g.50720951C>T | CA10325958 | SHANK3 | c.2719C>T (p.Pro907Ser) n.3303C>T c.1771C>T (p.Pro591Ser) c.1261C>T (p.Pro421Ser) c.*1717C>T (n.*1717C>T) c.3115C>T (p.Pro1039Ser) c.3097C>T (p.Pro1033Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720951_50720952insT | CA2517862977 | SHANK3 | c.2719_2720insT (p.Pro907LeufsTer?) n.3303_3304insT c.1771_1772insT (p.Pro591LeufsTer?) c.1261_1262insT (p.Pro421LeufsTer?) c.*1717_*1718insT (n.*1717_*1718insT) c.3115_3116insT (p.Pro1039LeufsTer?) c.3097_3098insT (p.Pro1033LeufsTer?) | |
| 22 | g.50720952C>A | CA515260755 | SHANK3 | c.2720C>A (p.Pro907His) n.3304C>A c.1772C>A (p.Pro591His) c.1262C>A (p.Pro421His) c.*1718C>A (n.*1718C>A) c.3116C>A (p.Pro1039His) c.3098C>A (p.Pro1033His) | |
| 22 | g.50720952C= | CA2411007936 | SHANK3 | c.2720C= (p.Pro907=) n.3304C= c.1772C= (p.Pro591=) c.1262C= (p.Pro421=) c.*1718C= (n.*1718C=) c.3116C= (p.Pro1039=) c.3098C= (p.Pro1033=) | |
| 22 | g.50720952C>G | CA515260756 | SHANK3 | c.2720C>G (p.Pro907Arg) n.3304C>G c.1772C>G (p.Pro591Arg) c.1262C>G (p.Pro421Arg) c.*1718C>G (n.*1718C>G) c.3116C>G (p.Pro1039Arg) c.3098C>G (p.Pro1033Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50720952C>T | CA515260757 | SHANK3 | c.2720C>T (p.Pro907Leu) n.3304C>T c.1772C>T (p.Pro591Leu) c.1262C>T (p.Pro421Leu) c.*1718C>T (n.*1718C>T) c.3116C>T (p.Pro1039Leu) c.3098C>T (p.Pro1033Leu) | gnomAD v4 |
| 22 | g.50720953C>A | CA515260758 | SHANK3 | c.2721C>A (p.Pro907=) n.3305C>A c.1773C>A (p.Pro591=) c.1263C>A (p.Pro421=) c.*1719C>A (n.*1719C>A) c.3117C>A (p.Pro1039=) c.3099C>A (p.Pro1033=) | gnomAD v4 |
| 22 | g.50720953C= | CA2411007937 | SHANK3 | c.2721C= (p.Pro907=) n.3305C= c.1773C= (p.Pro591=) c.1263C= (p.Pro421=) c.*1719C= (n.*1719C=) c.3117C= (p.Pro1039=) c.3099C= (p.Pro1033=) | |
| 22 | g.50720953C>G | CA515260759 | SHANK3 | c.2721C>G (p.Pro907=) n.3305C>G c.1773C>G (p.Pro591=) c.1263C>G (p.Pro421=) c.*1719C>G (n.*1719C>G) c.3117C>G (p.Pro1039=) c.3099C>G (p.Pro1033=) | gnomAD v4 |
| 22 | g.50720953C>T | CA10325959 | SHANK3 | c.2721C>T (p.Pro907=) n.3305C>T c.1773C>T (p.Pro591=) c.1263C>T (p.Pro421=) c.*1719C>T (n.*1719C>T) c.3117C>T (p.Pro1039=) c.3099C>T (p.Pro1033=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50720954G>A | CA515260760 | SHANK3 | c.2722G>A (p.Gly908Ser) n.3306G>A c.1774G>A (p.Gly592Ser) c.1264G>A (p.Gly422Ser) c.*1720G>A (n.*1720G>A) c.3118G>A (p.Gly1040Ser) c.3100G>A (p.Gly1034Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50720954G>C | CA515260761 | SHANK3 | c.2722G>C (p.Gly908Arg) n.3306G>C c.1774G>C (p.Gly592Arg) c.1264G>C (p.Gly422Arg) c.*1720G>C (n.*1720G>C) c.3118G>C (p.Gly1040Arg) c.3100G>C (p.Gly1034Arg) | gnomAD v4 |
| 22 | g.50720954G= | CA2411007938 | SHANK3 | c.2722G= (p.Gly908=) n.3306G= c.1774G= (p.Gly592=) c.1264G= (p.Gly422=) c.*1720G= (n.*1720G=) c.3118G= (p.Gly1040=) c.3100G= (p.Gly1034=) | |
| 22 | g.50720954G>T | CA515260762 | SHANK3 | c.2722G>T (p.Gly908Cys) n.3306G>T c.1774G>T (p.Gly592Cys) c.1264G>T (p.Gly422Cys) c.*1720G>T (n.*1720G>T) c.3118G>T (p.Gly1040Cys) c.3100G>T (p.Gly1034Cys) | gnomAD v4 |
| 22 | g.50720954_50720955insA | CA2565485691 | SHANK3 | c.2722_2723insA (p.Gly908GlufsTer?) n.3306_3307insA c.1774_1775insA (p.Gly592GlufsTer?) c.1264_1265insA (p.Gly422GlufsTer?) c.*1720_*1721insA (n.*1720_*1721insA) c.3118_3119insA (p.Gly1040GlufsTer?) c.3100_3101insA (p.Gly1034GlufsTer?) | |
| 22 | g.50720955G>A | CA515260763 | SHANK3 | c.2723G>A (p.Gly908Asp) n.3307G>A c.1775G>A (p.Gly592Asp) c.1265G>A (p.Gly422Asp) c.*1721G>A (n.*1721G>A) c.3119G>A (p.Gly1040Asp) c.3101G>A (p.Gly1034Asp) | dbSNP gnomAD v4 |
| 22 | g.50720955G>C | CA515260765 | SHANK3 | c.2723G>C (p.Gly908Ala) n.3307G>C c.1775G>C (p.Gly592Ala) c.1265G>C (p.Gly422Ala) c.*1721G>C (n.*1721G>C) c.3119G>C (p.Gly1040Ala) c.3101G>C (p.Gly1034Ala) | dbSNP gnomAD v2 |
| 22 | g.50720955G= | CA2411007939 | SHANK3 | c.2723G= (p.Gly908=) n.3307G= c.1775G= (p.Gly592=) c.1265G= (p.Gly422=) c.*1721G= (n.*1721G=) c.3119G= (p.Gly1040=) c.3101G= (p.Gly1034=) | |
| 22 | g.50720955G>T | CA515260764 | SHANK3 | c.2723G>T (p.Gly908Val) n.3307G>T c.1775G>T (p.Gly592Val) c.1265G>T (p.Gly422Val) c.*1721G>T (n.*1721G>T) c.3119G>T (p.Gly1040Val) c.3101G>T (p.Gly1034Val) | gnomAD v4 |
| 22 | g.50720956C>A | CA515260766 | SHANK3 | c.2724C>A (p.Gly908=) n.3308C>A c.1776C>A (p.Gly592=) c.1266C>A (p.Gly422=) c.*1722C>A (n.*1722C>A) c.3120C>A (p.Gly1040=) c.3102C>A (p.Gly1034=) | |
| 22 | g.50720956C= | CA2411007940 | SHANK3 | c.2724C= (p.Gly908=) n.3308C= c.1776C= (p.Gly592=) c.1266C= (p.Gly422=) c.*1722C= (n.*1722C=) c.3120C= (p.Gly1040=) c.3102C= (p.Gly1034=) | |
| 22 | g.50720956C>G | CA515260767 | SHANK3 | c.2724C>G (p.Gly908=) n.3308C>G c.1776C>G (p.Gly592=) c.1266C>G (p.Gly422=) c.*1722C>G (n.*1722C>G) c.3120C>G (p.Gly1040=) c.3102C>G (p.Gly1034=) | |
| 22 | g.50720956C>T | CA10325960 | SHANK3 | c.2724C>T (p.Gly908=) n.3308C>T c.1776C>T (p.Gly592=) c.1266C>T (p.Gly422=) c.*1722C>T (n.*1722C>T) c.3120C>T (p.Gly1040=) c.3102C>T (p.Gly1034=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720957G>A | CA515260768 | SHANK3 | c.2725G>A (p.Ala909Thr) n.3309G>A c.1777G>A (p.Ala593Thr) c.1267G>A (p.Ala423Thr) c.*1723G>A (n.*1723G>A) c.3121G>A (p.Ala1041Thr) c.3103G>A (p.Ala1035Thr) | gnomAD v4 |
| 22 | g.50720957G>C | CA515260769 | SHANK3 | c.2725G>C (p.Ala909Pro) n.3309G>C c.1777G>C (p.Ala593Pro) c.1267G>C (p.Ala423Pro) c.*1723G>C (n.*1723G>C) c.3121G>C (p.Ala1041Pro) c.3103G>C (p.Ala1035Pro) | |
| 22 | g.50720957G>T | CA515260770 | SHANK3 | c.2725G>T (p.Ala909Ser) n.3309G>T c.1777G>T (p.Ala593Ser) c.1267G>T (p.Ala423Ser) c.*1723G>T (n.*1723G>T) c.3121G>T (p.Ala1041Ser) c.3103G>T (p.Ala1035Ser) | gnomAD v4 |
| 22 | g.50720958C>A | CA515260771 | SHANK3 | c.2726C>A (p.Ala909Glu) n.3310C>A c.1778C>A (p.Ala593Glu) c.1268C>A (p.Ala423Glu) c.*1724C>A (n.*1724C>A) c.3122C>A (p.Ala1041Glu) c.3104C>A (p.Ala1035Glu) | gnomAD v4 |
| 22 | g.50720958C>G | CA515260772 | SHANK3 | c.2726C>G (p.Ala909Gly) n.3310C>G c.1778C>G (p.Ala593Gly) c.1268C>G (p.Ala423Gly) c.*1724C>G (n.*1724C>G) c.3122C>G (p.Ala1041Gly) c.3104C>G (p.Ala1035Gly) | |
| 22 | g.50720958C>T | CA515260773 | SHANK3 | c.2726C>T (p.Ala909Val) n.3310C>T c.1778C>T (p.Ala593Val) c.1268C>T (p.Ala423Val) c.*1724C>T (n.*1724C>T) c.3122C>T (p.Ala1041Val) c.3104C>T (p.Ala1035Val) | gnomAD v4 |
| 22 | g.50720959G>A | CA515260774 | SHANK3 | c.2727G>A (p.Ala909=) n.3311G>A c.1779G>A (p.Ala593=) c.1269G>A (p.Ala423=) c.*1725G>A (n.*1725G>A) c.3123G>A (p.Ala1041=) c.3105G>A (p.Ala1035=) | |
| 22 | g.50720959G>C | CA515260775 | SHANK3 | c.2727G>C (p.Ala909=) n.3311G>C c.1779G>C (p.Ala593=) c.1269G>C (p.Ala423=) c.*1725G>C (n.*1725G>C) c.3123G>C (p.Ala1041=) c.3105G>C (p.Ala1035=) | |
| 22 | g.50720959G= | CA2411007941 | SHANK3 | c.2727G= (p.Ala909=) n.3311G= c.1779G= (p.Ala593=) c.1269G= (p.Ala423=) c.*1725G= (n.*1725G=) c.3123G= (p.Ala1041=) c.3105G= (p.Ala1035=) | |
| 22 | g.50720959G>T | CA515260776 | SHANK3 | c.2727G>T (p.Ala909=) n.3311G>T c.1779G>T (p.Ala593=) c.1269G>T (p.Ala423=) c.*1725G>T (n.*1725G>T) c.3123G>T (p.Ala1041=) c.3105G>T (p.Ala1035=) | dbSNP gnomAD v4 |
| 22 | g.50720960G>A | CA515260780 | SHANK3 | c.2728G>A (p.Asp910Asn) n.3312G>A c.1780G>A (p.Asp594Asn) c.1270G>A (p.Asp424Asn) c.*1726G>A (n.*1726G>A) c.3124G>A (p.Asp1042Asn) c.3106G>A (p.Asp1036Asn) | |
| 22 | g.50720960G>C | CA515260777 | SHANK3 | c.2728G>C (p.Asp910His) n.3312G>C c.1780G>C (p.Asp594His) c.1270G>C (p.Asp424His) c.*1726G>C (n.*1726G>C) c.3124G>C (p.Asp1042His) c.3106G>C (p.Asp1036His) | ClinVar |
| 22 | g.50720960G>T | CA515260779 | SHANK3 | c.2728G>T (p.Asp910Tyr) n.3312G>T c.1780G>T (p.Asp594Tyr) c.1270G>T (p.Asp424Tyr) c.*1726G>T (n.*1726G>T) c.3124G>T (p.Asp1042Tyr) c.3106G>T (p.Asp1036Tyr) | gnomAD v4 |
| 22 | g.50720961A= | CA2411007942 | SHANK3 | c.2729A= (p.Asp910=) n.3313A= c.1781A= (p.Asp594=) c.1271A= (p.Asp424=) c.*1727A= (n.*1727A=) c.3125A= (p.Asp1042=) c.3107A= (p.Asp1036=) | |
| 22 | g.50720961A>C | CA16621139 | SHANK3 | c.2729A>C (p.Asp910Ala) n.3313A>C c.1781A>C (p.Asp594Ala) c.1271A>C (p.Asp424Ala) c.*1727A>C (n.*1727A>C) c.3125A>C (p.Asp1042Ala) c.3107A>C (p.Asp1036Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720961A>G | CA515260781 | SHANK3 | c.2729A>G (p.Asp910Gly) n.3313A>G c.1781A>G (p.Asp594Gly) c.1271A>G (p.Asp424Gly) c.*1727A>G (n.*1727A>G) c.3125A>G (p.Asp1042Gly) c.3107A>G (p.Asp1036Gly) | |
| 22 | g.50720961A>T | CA515260782 | SHANK3 | c.2729A>T (p.Asp910Val) n.3313A>T c.1781A>T (p.Asp594Val) c.1271A>T (p.Asp424Val) c.*1727A>T (n.*1727A>T) c.3125A>T (p.Asp1042Val) c.3107A>T (p.Asp1036Val) | |
| 22 | g.50720962T>A | CA515260783 | SHANK3 | c.2730T>A (p.Asp910Glu) n.3314T>A c.1782T>A (p.Asp594Glu) c.1272T>A (p.Asp424Glu) c.*1728T>A (n.*1728T>A) c.3126T>A (p.Asp1042Glu) c.3108T>A (p.Asp1036Glu) | |
| 22 | g.50720962T>C | CA515260784 | SHANK3 | c.2730T>C (p.Asp910=) n.3314T>C c.1782T>C (p.Asp594=) c.1272T>C (p.Asp424=) c.*1728T>C (n.*1728T>C) c.3126T>C (p.Asp1042=) c.3108T>C (p.Asp1036=) | |
| 22 | g.50720962T>G | CA515260785 | SHANK3 | c.2730T>G (p.Asp910Glu) n.3314T>G c.1782T>G (p.Asp594Glu) c.1272T>G (p.Asp424Glu) c.*1728T>G (n.*1728T>G) c.3126T>G (p.Asp1042Glu) c.3108T>G (p.Asp1036Glu) | |
| 22 | g.50720963C>A | CA515260786 | SHANK3 | c.2731C>A (p.Leu911Met) n.3315C>A c.1783C>A (p.Leu595Met) c.1273C>A (p.Leu425Met) c.*1729C>A (n.*1729C>A) c.3127C>A (p.Leu1043Met) c.3109C>A (p.Leu1037Met) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50720963C= | CA2411007943 | SHANK3 | c.2731C= (p.Leu911=) n.3315C= c.1783C= (p.Leu595=) c.1273C= (p.Leu425=) c.*1729C= (n.*1729C=) c.3127C= (p.Leu1043=) c.3109C= (p.Leu1037=) | |
| 22 | g.50720963C>G | CA515260787 | SHANK3 | c.2731C>G (p.Leu911Val) n.3315C>G c.1783C>G (p.Leu595Val) c.1273C>G (p.Leu425Val) c.*1729C>G (n.*1729C>G) c.3127C>G (p.Leu1043Val) c.3109C>G (p.Leu1037Val) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50720963C>T | CA10325961 | SHANK3 | c.2731C>T (p.Leu911=) n.3315C>T c.1783C>T (p.Leu595=) c.1273C>T (p.Leu425=) c.*1729C>T (n.*1729C>T) c.3127C>T (p.Leu1043=) c.3109C>T (p.Leu1037=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50720964T>A | CA515260788 | SHANK3 | c.2732T>A (p.Leu911Gln) n.3316T>A c.1784T>A (p.Leu595Gln) c.1274T>A (p.Leu425Gln) c.*1730T>A (n.*1730T>A) c.3128T>A (p.Leu1043Gln) c.3110T>A (p.Leu1037Gln) | |
| 22 | g.50720964T>C | CA515260789 | SHANK3 | c.2732T>C (p.Leu911Pro) n.3316T>C c.1784T>C (p.Leu595Pro) c.1274T>C (p.Leu425Pro) c.*1730T>C (n.*1730T>C) c.3128T>C (p.Leu1043Pro) c.3110T>C (p.Leu1037Pro) | ClinVar |
| 22 | g.50720964T>G | CA515260790 | SHANK3 | c.2732T>G (p.Leu911Arg) n.3316T>G c.1784T>G (p.Leu595Arg) c.1274T>G (p.Leu425Arg) c.*1730T>G (n.*1730T>G) c.3128T>G (p.Leu1043Arg) c.3110T>G (p.Leu1037Arg) | |
| 22 | g.50720965G>A | CA515260792 | SHANK3 | c.2733G>A (p.Leu911=) n.3317G>A c.1785G>A (p.Leu595=) c.1275G>A (p.Leu425=) c.*1731G>A (n.*1731G>A) c.3129G>A (p.Leu1043=) c.3111G>A (p.Leu1037=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50720965G>C | CA515260793 | SHANK3 | c.2733G>C (p.Leu911=) n.3317G>C c.1785G>C (p.Leu595=) c.1275G>C (p.Leu425=) c.*1731G>C (n.*1731G>C) c.3129G>C (p.Leu1043=) c.3111G>C (p.Leu1037=) | dbSNP gnomAD v4 |
| 22 | g.50720965G= | CA2411007944 | SHANK3 | c.2733G= (p.Leu911=) n.3317G= c.1785G= (p.Leu595=) c.1275G= (p.Leu425=) c.*1731G= (n.*1731G=) c.3129G= (p.Leu1043=) c.3111G= (p.Leu1037=) | |
| 22 | g.50720965G>T | CA515260791 | SHANK3 | c.2733G>T (p.Leu911=) n.3317G>T c.1785G>T (p.Leu595=) c.1275G>T (p.Leu425=) c.*1731G>T (n.*1731G>T) c.3129G>T (p.Leu1043=) c.3111G>T (p.Leu1037=) | gnomAD v4 |
| 22 | g.50720966C>A | CA515260794 | SHANK3 | c.2734C>A (p.Pro912Thr) n.3318C>A c.1786C>A (p.Pro596Thr) c.1276C>A (p.Pro426Thr) c.*1732C>A (n.*1732C>A) c.3130C>A (p.Pro1044Thr) c.3112C>A (p.Pro1038Thr) | gnomAD v4 |
| 22 | g.50720966C= | CA2411007945 | SHANK3 | c.2734C= (p.Pro912=) n.3318C= c.1786C= (p.Pro596=) c.1276C= (p.Pro426=) c.*1732C= (n.*1732C=) c.3130C= (p.Pro1044=) c.3112C= (p.Pro1038=) | |
| 22 | g.50720966C>G | CA515260796 | SHANK3 | c.2734C>G (p.Pro912Ala) n.3318C>G c.1786C>G (p.Pro596Ala) c.1276C>G (p.Pro426Ala) c.*1732C>G (n.*1732C>G) c.3130C>G (p.Pro1044Ala) c.3112C>G (p.Pro1038Ala) | |
| 22 | g.50720966C>T | CA515260795 | SHANK3 | c.2734C>T (p.Pro912Ser) n.3318C>T c.1786C>T (p.Pro596Ser) c.1276C>T (p.Pro426Ser) c.*1732C>T (n.*1732C>T) c.3130C>T (p.Pro1044Ser) c.3112C>T (p.Pro1038Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720967C>A | CA515260797 | SHANK3 | c.2735C>A (p.Pro912Gln) n.3319C>A c.1787C>A (p.Pro596Gln) c.1277C>A (p.Pro426Gln) c.*1733C>A (n.*1733C>A) c.3131C>A (p.Pro1044Gln) c.3113C>A (p.Pro1038Gln) | |
| 22 | g.50720967C= | CA2411007946 | SHANK3 | c.2735C= (p.Pro912=) n.3319C= c.1787C= (p.Pro596=) c.1277C= (p.Pro426=) c.*1733C= (n.*1733C=) c.3131C= (p.Pro1044=) c.3113C= (p.Pro1038=) | |
| 22 | g.50720967C>G | CA515260798 | SHANK3 | c.2735C>G (p.Pro912Arg) n.3319C>G c.1787C>G (p.Pro596Arg) c.1277C>G (p.Pro426Arg) c.*1733C>G (n.*1733C>G) c.3131C>G (p.Pro1044Arg) c.3113C>G (p.Pro1038Arg) | gnomAD v4 |
| 22 | g.50720967C>T | CA515260799 | SHANK3 | c.2735C>T (p.Pro912Leu) n.3319C>T c.1787C>T (p.Pro596Leu) c.1277C>T (p.Pro426Leu) c.*1733C>T (n.*1733C>T) c.3131C>T (p.Pro1044Leu) c.3113C>T (p.Pro1038Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50720968A= | CA2411007947 | SHANK3 | c.2736A= (p.Pro912=) n.3320A= c.1788A= (p.Pro596=) c.1278A= (p.Pro426=) c.*1734A= (n.*1734A=) c.3132A= (p.Pro1044=) c.3114A= (p.Pro1038=) | |
| 22 | g.50720968A>C | CA515260800 | SHANK3 | c.2736A>C (p.Pro912=) n.3320A>C c.1788A>C (p.Pro596=) c.1278A>C (p.Pro426=) c.*1734A>C (n.*1734A>C) c.3132A>C (p.Pro1044=) c.3114A>C (p.Pro1038=) | |
| 22 | g.50720968A>G | CA10325962 | SHANK3 | c.2736A>G (p.Pro912=) n.3320A>G c.1788A>G (p.Pro596=) c.1278A>G (p.Pro426=) c.*1734A>G (n.*1734A>G) c.3132A>G (p.Pro1044=) c.3114A>G (p.Pro1038=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720968A>T | CA515260801 | SHANK3 | c.2736A>T (p.Pro912=) n.3320A>T c.1788A>T (p.Pro596=) c.1278A>T (p.Pro426=) c.*1734A>T (n.*1734A>T) c.3132A>T (p.Pro1044=) c.3114A>T (p.Pro1038=) | |
| 22 | g.50720969T>A | CA515260802 | SHANK3 | c.2737T>A (p.Ser913Thr) n.3321T>A c.1789T>A (p.Ser597Thr) c.1279T>A (p.Ser427Thr) c.*1735T>A (n.*1735T>A) c.3133T>A (p.Ser1045Thr) c.3115T>A (p.Ser1039Thr) | |
| 22 | g.50720969T>C | CA515260803 | SHANK3 | c.2737T>C (p.Ser913Pro) n.3321T>C c.1789T>C (p.Ser597Pro) c.1279T>C (p.Ser427Pro) c.*1735T>C (n.*1735T>C) c.3133T>C (p.Ser1045Pro) c.3115T>C (p.Ser1039Pro) | |
| 22 | g.50720969T>G | CA515260804 | SHANK3 | c.2737T>G (p.Ser913Ala) n.3321T>G c.1789T>G (p.Ser597Ala) c.1279T>G (p.Ser427Ala) c.*1735T>G (n.*1735T>G) c.3133T>G (p.Ser1045Ala) c.3115T>G (p.Ser1039Ala) | |
| 22 | g.50720970C>A | CA515260805 | SHANK3 | c.2738C>A (p.Ser913Tyr) n.3322C>A c.1790C>A (p.Ser597Tyr) c.1280C>A (p.Ser427Tyr) c.*1736C>A (n.*1736C>A) c.3134C>A (p.Ser1045Tyr) c.3116C>A (p.Ser1039Tyr) | gnomAD v4 |
| 22 | g.50720970C= | CA2411007948 | SHANK3 | c.2738C= (p.Ser913=) n.3322C= c.1790C= (p.Ser597=) c.1280C= (p.Ser427=) c.*1736C= (n.*1736C=) c.3134C= (p.Ser1045=) c.3116C= (p.Ser1039=) | |
| 22 | g.50720970C>G | CA515260806 | SHANK3 | c.2738C>G (p.Ser913Cys) n.3322C>G c.1790C>G (p.Ser597Cys) c.1280C>G (p.Ser427Cys) c.*1736C>G (n.*1736C>G) c.3134C>G (p.Ser1045Cys) c.3116C>G (p.Ser1039Cys) | |
| 22 | g.50720970C>T | CA515260807 | SHANK3 | c.2738C>T (p.Ser913Phe) n.3322C>T c.1790C>T (p.Ser597Phe) c.1280C>T (p.Ser427Phe) c.*1736C>T (n.*1736C>T) c.3134C>T (p.Ser1045Phe) c.3116C>T (p.Ser1039Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720971C>A | CA515260810 | SHANK3 | c.2739C>A (p.Ser913=) n.3323C>A c.1791C>A (p.Ser597=) c.1281C>A (p.Ser427=) c.*1737C>A (n.*1737C>A) c.3135C>A (p.Ser1045=) c.3117C>A (p.Ser1039=) | gnomAD v4 |
| 22 | g.50720971C= | CA2411007949 | SHANK3 | c.2739C= (p.Ser913=) n.3323C= c.1791C= (p.Ser597=) c.1281C= (p.Ser427=) c.*1737C= (n.*1737C=) c.3135C= (p.Ser1045=) c.3117C= (p.Ser1039=) | |
| 22 | g.50720971C>G | CA515260808 | SHANK3 | c.2739C>G (p.Ser913=) n.3323C>G c.1791C>G (p.Ser597=) c.1281C>G (p.Ser427=) c.*1737C>G (n.*1737C>G) c.3135C>G (p.Ser1045=) c.3117C>G (p.Ser1039=) | |
| 22 | g.50720971C>T | CA515260809 | SHANK3 | c.2739C>T (p.Ser913=) n.3323C>T c.1791C>T (p.Ser597=) c.1281C>T (p.Ser427=) c.*1737C>T (n.*1737C>T) c.3135C>T (p.Ser1045=) c.3117C>T (p.Ser1039=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50720972C>A | CA515260811 | SHANK3 | c.2740C>A (p.Leu914Ile) n.3324C>A c.1792C>A (p.Leu598Ile) c.1282C>A (p.Leu428Ile) c.*1738C>A (n.*1738C>A) c.3136C>A (p.Leu1046Ile) c.3118C>A (p.Leu1040Ile) | gnomAD v4 |
| 22 | g.50720972C= | CA2411007950 | SHANK3 | c.2740C= (p.Leu914=) n.3324C= c.1792C= (p.Leu598=) c.1282C= (p.Leu428=) c.*1738C= (n.*1738C=) c.3136C= (p.Leu1046=) c.3118C= (p.Leu1040=) | |
| 22 | g.50720972C>G | CA515260812 | SHANK3 | c.2740C>G (p.Leu914Val) n.3324C>G c.1792C>G (p.Leu598Val) c.1282C>G (p.Leu428Val) c.*1738C>G (n.*1738C>G) c.3136C>G (p.Leu1046Val) c.3118C>G (p.Leu1040Val) | |
| 22 | g.50720972C>T | CA515260813 | SHANK3 | c.2740C>T (p.Leu914=) n.3324C>T c.1792C>T (p.Leu598=) c.1282C>T (p.Leu428=) c.*1738C>T (n.*1738C>T) c.3136C>T (p.Leu1046=) c.3118C>T (p.Leu1040=) | dbSNP gnomAD v4 |
| 22 | g.50720973T>A | CA515260814 | SHANK3 | c.2741T>A (p.Leu914Gln) n.3325T>A c.1793T>A (p.Leu598Gln) c.1283T>A (p.Leu428Gln) c.*1739T>A (n.*1739T>A) c.3137T>A (p.Leu1046Gln) c.3119T>A (p.Leu1040Gln) | |
| 22 | g.50720973T>C | CA515260815 | SHANK3 | c.2741T>C (p.Leu914Pro) n.3325T>C c.1793T>C (p.Leu598Pro) c.1283T>C (p.Leu428Pro) c.*1739T>C (n.*1739T>C) c.3137T>C (p.Leu1046Pro) c.3119T>C (p.Leu1040Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50720973T>G | CA515260816 | SHANK3 | c.2741T>G (p.Leu914Arg) n.3325T>G c.1793T>G (p.Leu598Arg) c.1283T>G (p.Leu428Arg) c.*1739T>G (n.*1739T>G) c.3137T>G (p.Leu1046Arg) c.3119T>G (p.Leu1040Arg) | |
| 22 | g.50720973T= | CA2411007951 | SHANK3 | c.2741T= (p.Leu914=) n.3325T= c.1793T= (p.Leu598=) c.1283T= (p.Leu428=) c.*1739T= (n.*1739T=) c.3137T= (p.Leu1046=) c.3119T= (p.Leu1040=) | |
| 22 | g.50720974A= | CA2411007952 | SHANK3 | c.2742A= (p.Leu914=) n.3326A= c.1794A= (p.Leu598=) c.1284A= (p.Leu428=) c.*1740A= (n.*1740A=) c.3138A= (p.Leu1046=) c.3120A= (p.Leu1040=) | |
| 22 | g.50720974A>C | CA515260817 | SHANK3 | c.2742A>C (p.Leu914=) n.3326A>C c.1794A>C (p.Leu598=) c.1284A>C (p.Leu428=) c.*1740A>C (n.*1740A>C) c.3138A>C (p.Leu1046=) c.3120A>C (p.Leu1040=) | |
| 22 | g.50720974A>G | CA515260818 | SHANK3 | c.2742A>G (p.Leu914=) n.3326A>G c.1794A>G (p.Leu598=) c.1284A>G (p.Leu428=) c.*1740A>G (n.*1740A>G) c.3138A>G (p.Leu1046=) c.3120A>G (p.Leu1040=) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 22 | g.50720974A>T | CA515260819 | SHANK3 | c.2742A>T (p.Leu914=) n.3326A>T c.1794A>T (p.Leu598=) c.1284A>T (p.Leu428=) c.*1740A>T (n.*1740A>T) c.3138A>T (p.Leu1046=) c.3120A>T (p.Leu1040=) | |
| 22 | g.50720975C>A | CA515260820 | SHANK3 | c.2743C>A (p.Gln915Lys) n.3327C>A c.1795C>A (p.Gln599Lys) c.1285C>A (p.Gln429Lys) c.*1741C>A (n.*1741C>A) c.3139C>A (p.Gln1047Lys) c.3121C>A (p.Gln1041Lys) | |
| 22 | g.50720975C>G | CA515260821 | SHANK3 | c.2743C>G (p.Gln915Glu) n.3327C>G c.1795C>G (p.Gln599Glu) c.1285C>G (p.Gln429Glu) c.*1741C>G (n.*1741C>G) c.3139C>G (p.Gln1047Glu) c.3121C>G (p.Gln1041Glu) | |
| 22 | g.50720975C>T | CA515260822 | SHANK3 | c.2743C>T (p.Gln915Ter) n.3327C>T c.1795C>T (p.Gln599Ter) c.1285C>T (p.Gln429Ter) c.*1741C>T (n.*1741C>T) c.3139C>T (p.Gln1047Ter) c.3121C>T (p.Gln1041Ter) | gnomAD v4 |
| 22 | g.50720976A>C | CA515260825 | SHANK3 | c.2744A>C (p.Gln915Pro) n.3328A>C c.1796A>C (p.Gln599Pro) c.1286A>C (p.Gln429Pro) c.*1742A>C (n.*1742A>C) c.3140A>C (p.Gln1047Pro) c.3122A>C (p.Gln1041Pro) | |
| 22 | g.50720976A>G | CA515260824 | SHANK3 | c.2744A>G (p.Gln915Arg) n.3328A>G c.1796A>G (p.Gln599Arg) c.1286A>G (p.Gln429Arg) c.*1742A>G (n.*1742A>G) c.3140A>G (p.Gln1047Arg) c.3122A>G (p.Gln1041Arg) | |
| 22 | g.50720976A>T | CA515260823 | SHANK3 | c.2744A>T (p.Gln915Leu) n.3328A>T c.1796A>T (p.Gln599Leu) c.1286A>T (p.Gln429Leu) c.*1742A>T (n.*1742A>T) c.3140A>T (p.Gln1047Leu) c.3122A>T (p.Gln1041Leu) | |
| 22 | g.50720977G>A | CA515260828 | SHANK3 | c.2745G>A (p.Gln915=) n.3329G>A c.1797G>A (p.Gln599=) c.1287G>A (p.Gln429=) c.*1743G>A (n.*1743G>A) c.3141G>A (p.Gln1047=) c.3123G>A (p.Gln1041=) | |
| 22 | g.50720977G>C | CA515260826 | SHANK3 | c.2745G>C (p.Gln915His) n.3329G>C c.1797G>C (p.Gln599His) c.1287G>C (p.Gln429His) c.*1743G>C (n.*1743G>C) c.3141G>C (p.Gln1047His) c.3123G>C (p.Gln1041His) | |
| 22 | g.50720977G>T | CA515260827 | SHANK3 | c.2745G>T (p.Gln915His) n.3329G>T c.1797G>T (p.Gln599His) c.1287G>T (p.Gln429His) c.*1743G>T (n.*1743G>T) c.3141G>T (p.Gln1047His) c.3123G>T (p.Gln1041His) | gnomAD v4 |
| 22 | g.50720978C>A | CA515260829 | SHANK3 | c.2746C>A (p.Pro916Thr) n.3330C>A c.1798C>A (p.Pro600Thr) c.1288C>A (p.Pro430Thr) c.*1744C>A (n.*1744C>A) c.3142C>A (p.Pro1048Thr) c.3124C>A (p.Pro1042Thr) | |
| 22 | g.50720978C>G | CA515260830 | SHANK3 | c.2746C>G (p.Pro916Ala) n.3330C>G c.1798C>G (p.Pro600Ala) c.1288C>G (p.Pro430Ala) c.*1744C>G (n.*1744C>G) c.3142C>G (p.Pro1048Ala) c.3124C>G (p.Pro1042Ala) | |
| 22 | g.50720978C>T | CA515260831 | SHANK3 | c.2746C>T (p.Pro916Ser) n.3330C>T c.1798C>T (p.Pro600Ser) c.1288C>T (p.Pro430Ser) c.*1744C>T (n.*1744C>T) c.3142C>T (p.Pro1048Ser) c.3124C>T (p.Pro1042Ser) | gnomAD v4 |
| 22 | g.50720979C>A | CA515260834 | SHANK3 | c.2747C>A (p.Pro916His) n.3331C>A c.1799C>A (p.Pro600His) c.1289C>A (p.Pro430His) c.*1745C>A (n.*1745C>A) c.3143C>A (p.Pro1048His) c.3125C>A (p.Pro1042His) | gnomAD v4 |
| 22 | g.50720979C= | CA2411007953 | SHANK3 | c.2747C= (p.Pro916=) n.3331C= c.1799C= (p.Pro600=) c.1289C= (p.Pro430=) c.*1745C= (n.*1745C=) c.3143C= (p.Pro1048=) c.3125C= (p.Pro1042=) | |
| 22 | g.50720979C>G | CA515260833 | SHANK3 | c.2747C>G (p.Pro916Arg) n.3331C>G c.1799C>G (p.Pro600Arg) c.1289C>G (p.Pro430Arg) c.*1745C>G (n.*1745C>G) c.3143C>G (p.Pro1048Arg) c.3125C>G (p.Pro1042Arg) | |
| 22 | g.50720979C>T | CA515260832 | SHANK3 | c.2747C>T (p.Pro916Leu) n.3331C>T c.1799C>T (p.Pro600Leu) c.1289C>T (p.Pro430Leu) c.*1745C>T (n.*1745C>T) c.3143C>T (p.Pro1048Leu) c.3125C>T (p.Pro1042Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50720980C>A | CA515260835 | SHANK3 | c.2748C>A (p.Pro916=) n.3332C>A c.1800C>A (p.Pro600=) c.1290C>A (p.Pro430=) c.*1746C>A (n.*1746C>A) c.3144C>A (p.Pro1048=) c.3126C>A (p.Pro1042=) | gnomAD v4 |
| 22 | g.50720980C= | CA2411007954 | SHANK3 | c.2748C= (p.Pro916=) n.3332C= c.1800C= (p.Pro600=) c.1290C= (p.Pro430=) c.*1746C= (n.*1746C=) c.3144C= (p.Pro1048=) c.3126C= (p.Pro1042=) | |
| 22 | g.50720980C>G | CA515260836 | SHANK3 | c.2748C>G (p.Pro916=) n.3332C>G c.1800C>G (p.Pro600=) c.1290C>G (p.Pro430=) c.*1746C>G (n.*1746C>G) c.3144C>G (p.Pro1048=) c.3126C>G (p.Pro1042=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50720980C>T | CA10325963 | SHANK3 | c.2748C>T (p.Pro916=) n.3332C>T c.1800C>T (p.Pro600=) c.1290C>T (p.Pro430=) c.*1746C>T (n.*1746C>T) c.3144C>T (p.Pro1048=) c.3126C>T (p.Pro1042=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720981del | CA2657583422 | SHANK3 | c.2749del (p.Ser917ProfsTer28) n.3333del c.1801del (p.Ser601ProfsTer28) c.1291del (p.Ser431ProfsTer28) c.*1747del (n.*1747del) c.3145del (p.Ser1049ProfsTer28) c.3127del (p.Ser1043ProfsTer28) | gnomAD v4 |
| 22 | g.50720981T>A | CA515260837 | SHANK3 | c.2749T>A (p.Ser917Thr) n.3333T>A c.1801T>A (p.Ser601Thr) c.1291T>A (p.Ser431Thr) c.*1747T>A (n.*1747T>A) c.3145T>A (p.Ser1049Thr) c.3127T>A (p.Ser1043Thr) | |
| 22 | g.50720981T>C | CA515260838 | SHANK3 | c.2749T>C (p.Ser917Pro) n.3333T>C c.1801T>C (p.Ser601Pro) c.1291T>C (p.Ser431Pro) c.*1747T>C (n.*1747T>C) c.3145T>C (p.Ser1049Pro) c.3127T>C (p.Ser1043Pro) | |
| 22 | g.50720981T>G | CA515260839 | SHANK3 | c.2749T>G (p.Ser917Ala) n.3333T>G c.1801T>G (p.Ser601Ala) c.1291T>G (p.Ser431Ala) c.*1747T>G (n.*1747T>G) c.3145T>G (p.Ser1049Ala) c.3127T>G (p.Ser1043Ala) | |
| 22 | g.50720982C>A | CA515260840 | SHANK3 | c.2750C>A (p.Ser917Tyr) n.3334C>A c.1802C>A (p.Ser601Tyr) c.1292C>A (p.Ser431Tyr) c.*1748C>A (n.*1748C>A) c.3146C>A (p.Ser1049Tyr) c.3128C>A (p.Ser1043Tyr) | |
| 22 | g.50720982C= | CA2411007955 | SHANK3 | c.2750C= (p.Ser917=) n.3334C= c.1802C= (p.Ser601=) c.1292C= (p.Ser431=) c.*1748C= (n.*1748C=) c.3146C= (p.Ser1049=) c.3128C= (p.Ser1043=) | |
| 22 | g.50720982C>G | CA515260842 | SHANK3 | c.2750C>G (p.Ser917Cys) n.3334C>G c.1802C>G (p.Ser601Cys) c.1292C>G (p.Ser431Cys) c.*1748C>G (n.*1748C>G) c.3146C>G (p.Ser1049Cys) c.3128C>G (p.Ser1043Cys) | dbSNP |
| 22 | g.50720982C>T | CA515260841 | SHANK3 | c.2750C>T (p.Ser917Phe) n.3334C>T c.1802C>T (p.Ser601Phe) c.1292C>T (p.Ser431Phe) c.*1748C>T (n.*1748C>T) c.3146C>T (p.Ser1049Phe) c.3128C>T (p.Ser1043Phe) | ClinVar dbSNP |
| 22 | g.50720983C>A | CA515260843 | SHANK3 | c.2751C>A (p.Ser917=) n.3335C>A c.1803C>A (p.Ser601=) c.1293C>A (p.Ser431=) c.*1749C>A (n.*1749C>A) c.3147C>A (p.Ser1049=) c.3129C>A (p.Ser1043=) | gnomAD v4 |
| 22 | g.50720983C= | CA2411007956 | SHANK3 | c.2751C= (p.Ser917=) n.3335C= c.1803C= (p.Ser601=) c.1293C= (p.Ser431=) c.*1749C= (n.*1749C=) c.3147C= (p.Ser1049=) c.3129C= (p.Ser1043=) | |
| 22 | g.50720983C>G | CA10325964 | SHANK3 | c.2751C>G (p.Ser917=) n.3335C>G c.1803C>G (p.Ser601=) c.1293C>G (p.Ser431=) c.*1749C>G (n.*1749C>G) c.3147C>G (p.Ser1049=) c.3129C>G (p.Ser1043=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720983C>T | CA515260844 | SHANK3 | c.2751C>T (p.Ser917=) n.3335C>T c.1803C>T (p.Ser601=) c.1293C>T (p.Ser431=) c.*1749C>T (n.*1749C>T) c.3147C>T (p.Ser1049=) c.3129C>T (p.Ser1043=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50720984C>A | CA515260845 | SHANK3 | c.2752C>A (p.Arg918Ser) n.3336C>A c.1804C>A (p.Arg602Ser) c.1294C>A (p.Arg432Ser) c.*1750C>A (n.*1750C>A) c.3148C>A (p.Arg1050Ser) c.3130C>A (p.Arg1044Ser) | gnomAD v4 |
| 22 | g.50720984C= | CA2411007957 | SHANK3 | c.2752C= (p.Arg918=) n.3336C= c.1804C= (p.Arg602=) c.1294C= (p.Arg432=) c.*1750C= (n.*1750C=) c.3148C= (p.Arg1050=) c.3130C= (p.Arg1044=) | |
| 22 | g.50720984C>G | CA515260846 | SHANK3 | c.2752C>G (p.Arg918Gly) n.3336C>G c.1804C>G (p.Arg602Gly) c.1294C>G (p.Arg432Gly) c.*1750C>G (n.*1750C>G) c.3148C>G (p.Arg1050Gly) c.3130C>G (p.Arg1044Gly) | |
| 22 | g.50720984C>T | CA515260847 | SHANK3 | c.2752C>T (p.Arg918Cys) n.3336C>T c.1804C>T (p.Arg602Cys) c.1294C>T (p.Arg432Cys) c.*1750C>T (n.*1750C>T) c.3148C>T (p.Arg1050Cys) c.3130C>T (p.Arg1044Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50720985G>A | CA515260848 | SHANK3 | c.2753G>A (p.Arg918His) n.3337G>A c.1805G>A (p.Arg602His) c.1295G>A (p.Arg432His) c.*1751G>A (n.*1751G>A) c.3149G>A (p.Arg1050His) c.3131G>A (p.Arg1044His) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50720985G>C | CA515260849 | SHANK3 | c.2753G>C (p.Arg918Pro) n.3337G>C c.1805G>C (p.Arg602Pro) c.1295G>C (p.Arg432Pro) c.*1751G>C (n.*1751G>C) c.3149G>C (p.Arg1050Pro) c.3131G>C (p.Arg1044Pro) | |
| 22 | g.50720985G>T | CA515260850 | SHANK3 | c.2753G>T (p.Arg918Leu) n.3337G>T c.1805G>T (p.Arg602Leu) c.1295G>T (p.Arg432Leu) c.*1751G>T (n.*1751G>T) c.3149G>T (p.Arg1050Leu) c.3131G>T (p.Arg1044Leu) | gnomAD v4 |
| 22 | g.50720986C>A | CA515260851 | SHANK3 | c.2754C>A (p.Arg918=) n.3338C>A c.1806C>A (p.Arg602=) c.1296C>A (p.Arg432=) c.*1752C>A (n.*1752C>A) c.3150C>A (p.Arg1050=) c.3132C>A (p.Arg1044=) | |
| 22 | g.50720986C= | CA2411007958 | SHANK3 | c.2754C= (p.Arg918=) n.3338C= c.1806C= (p.Arg602=) c.1296C= (p.Arg432=) c.*1752C= (n.*1752C=) c.3150C= (p.Arg1050=) c.3132C= (p.Arg1044=) | |
| 22 | g.50720986C>G | CA515260852 | SHANK3 | c.2754C>G (p.Arg918=) n.3338C>G c.1806C>G (p.Arg602=) c.1296C>G (p.Arg432=) c.*1752C>G (n.*1752C>G) c.3150C>G (p.Arg1050=) c.3132C>G (p.Arg1044=) | |
| 22 | g.50720986C>T | CA10325965 | SHANK3 | c.2754C>T (p.Arg918=) n.3338C>T c.1806C>T (p.Arg602=) c.1296C>T (p.Arg432=) c.*1752C>T (n.*1752C>T) c.3150C>T (p.Arg1050=) c.3132C>T (p.Arg1044=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50720987T>A | CA515260854 | SHANK3 | c.2755T>A (p.Ser919Thr) n.3339T>A c.1807T>A (p.Ser603Thr) c.1297T>A (p.Ser433Thr) c.*1753T>A (n.*1753T>A) c.3151T>A (p.Ser1051Thr) c.3133T>A (p.Ser1045Thr) | |
| 22 | g.50720987T>C | CA515260855 | SHANK3 | c.2755T>C (p.Ser919Pro) n.3339T>C c.1807T>C (p.Ser603Pro) c.1297T>C (p.Ser433Pro) c.*1753T>C (n.*1753T>C) c.3151T>C (p.Ser1051Pro) c.3133T>C (p.Ser1045Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50720987T>G | CA515260853 | SHANK3 | c.2755T>G (p.Ser919Ala) n.3339T>G c.1807T>G (p.Ser603Ala) c.1297T>G (p.Ser433Ala) c.*1753T>G (n.*1753T>G) c.3151T>G (p.Ser1051Ala) c.3133T>G (p.Ser1045Ala) | |
| 22 | g.50720987T= | CA2411007959 | SHANK3 | c.2755T= (p.Ser919=) n.3339T= c.1807T= (p.Ser603=) c.1297T= (p.Ser433=) c.*1753T= (n.*1753T=) c.3151T= (p.Ser1051=) c.3133T= (p.Ser1045=) | |
| 22 | g.50720988C>A | CA515260856 | SHANK3 | c.2756C>A (p.Ser919Tyr) n.3340C>A c.1808C>A (p.Ser603Tyr) c.1298C>A (p.Ser433Tyr) c.*1754C>A (n.*1754C>A) c.3152C>A (p.Ser1051Tyr) c.3134C>A (p.Ser1045Tyr) | |
| 22 | g.50720988C>G | CA515260857 | SHANK3 | c.2756C>G (p.Ser919Cys) n.3340C>G c.1808C>G (p.Ser603Cys) c.1298C>G (p.Ser433Cys) c.*1754C>G (n.*1754C>G) c.3152C>G (p.Ser1051Cys) c.3134C>G (p.Ser1045Cys) | gnomAD v4 |
| 22 | g.50720988C>T | CA515260858 | SHANK3 | c.2756C>T (p.Ser919Phe) n.3340C>T c.1808C>T (p.Ser603Phe) c.1298C>T (p.Ser433Phe) c.*1754C>T (n.*1754C>T) c.3152C>T (p.Ser1051Phe) c.3134C>T (p.Ser1045Phe) |