| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50721236G>A | CA515261529 | SHANK3 | c.3004G>A (p.Asp1002Asn) n.3588G>A c.2056G>A (p.Asp686Asn) c.1546G>A (p.Asp516Asn) c.*2002G>A (n.*2002G>A) c.3400G>A (p.Asp1134Asn) c.3382G>A (p.Asp1128Asn) | gnomAD v4 |
| 22 | g.50721236G>C | CA515261530 | SHANK3 | c.3004G>C (p.Asp1002His) n.3588G>C c.2056G>C (p.Asp686His) c.1546G>C (p.Asp516His) c.*2002G>C (n.*2002G>C) c.3400G>C (p.Asp1134His) c.3382G>C (p.Asp1128His) | |
| 22 | g.50721236G>T | CA515261531 | SHANK3 | c.3004G>T (p.Asp1002Tyr) n.3588G>T c.2056G>T (p.Asp686Tyr) c.1546G>T (p.Asp516Tyr) c.*2002G>T (n.*2002G>T) c.3400G>T (p.Asp1134Tyr) c.3382G>T (p.Asp1128Tyr) | |
| 22 | g.50721237A= | CA2411008108 | SHANK3 | c.3005A= (p.Asp1002=) n.3589A= c.2057A= (p.Asp686=) c.1547A= (p.Asp516=) c.*2003A= (n.*2003A=) c.3401A= (p.Asp1134=) c.3383A= (p.Asp1128=) | |
| 22 | g.50721237A>C | CA515261534 | SHANK3 | c.3005A>C (p.Asp1002Ala) n.3589A>C c.2057A>C (p.Asp686Ala) c.1547A>C (p.Asp516Ala) c.*2003A>C (n.*2003A>C) c.3401A>C (p.Asp1134Ala) c.3383A>C (p.Asp1128Ala) | |
| 22 | g.50721237A>G | CA515261532 | SHANK3 | c.3005A>G (p.Asp1002Gly) n.3589A>G c.2057A>G (p.Asp686Gly) c.1547A>G (p.Asp516Gly) c.*2003A>G (n.*2003A>G) c.3401A>G (p.Asp1134Gly) c.3383A>G (p.Asp1128Gly) | |
| 22 | g.50721237A>T | CA515261533 | SHANK3 | c.3005A>T (p.Asp1002Val) n.3589A>T c.2057A>T (p.Asp686Val) c.1547A>T (p.Asp516Val) c.*2003A>T (n.*2003A>T) c.3401A>T (p.Asp1134Val) c.3383A>T (p.Asp1128Val) | dbSNP |
| 22 | g.50721238C>A | CA515261535 | SHANK3 | c.3006C>A (p.Asp1002Glu) n.3590C>A c.2058C>A (p.Asp686Glu) c.1548C>A (p.Asp516Glu) c.*2004C>A (n.*2004C>A) c.3402C>A (p.Asp1134Glu) c.3384C>A (p.Asp1128Glu) | |
| 22 | g.50721238C= | CA2411008109 | SHANK3 | c.3006C= (p.Asp1002=) n.3590C= c.2058C= (p.Asp686=) c.1548C= (p.Asp516=) c.*2004C= (n.*2004C=) c.3402C= (p.Asp1134=) c.3384C= (p.Asp1128=) | |
| 22 | g.50721238C>G | CA515261536 | SHANK3 | c.3006C>G (p.Asp1002Glu) n.3590C>G c.2058C>G (p.Asp686Glu) c.1548C>G (p.Asp516Glu) c.*2004C>G (n.*2004C>G) c.3402C>G (p.Asp1134Glu) c.3384C>G (p.Asp1128Glu) | |
| 22 | g.50721238C>T | CA325578824 | SHANK3 | c.3006C>T (p.Asp1002=) n.3590C>T c.2058C>T (p.Asp686=) c.1548C>T (p.Asp516=) c.*2004C>T (n.*2004C>T) c.3402C>T (p.Asp1134=) c.3384C>T (p.Asp1128=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721239G>A | CA10326020 | SHANK3 | c.3007G>A (p.Ala1003Thr) n.3591G>A c.2059G>A (p.Ala687Thr) c.1549G>A (p.Ala517Thr) c.*2005G>A (n.*2005G>A) c.3403G>A (p.Ala1135Thr) c.3385G>A (p.Ala1129Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721239G>C | CA515261537 | SHANK3 | c.3007G>C (p.Ala1003Pro) n.3591G>C c.2059G>C (p.Ala687Pro) c.1549G>C (p.Ala517Pro) c.*2005G>C (n.*2005G>C) c.3403G>C (p.Ala1135Pro) c.3385G>C (p.Ala1129Pro) | |
| 22 | g.50721239G= | CA2411008110 | SHANK3 | c.3007G= (p.Ala1003=) n.3591G= c.2059G= (p.Ala687=) c.1549G= (p.Ala517=) c.*2005G= (n.*2005G=) c.3403G= (p.Ala1135=) c.3385G= (p.Ala1129=) | |
| 22 | g.50721239G>T | CA515261538 | SHANK3 | c.3007G>T (p.Ala1003Ser) n.3591G>T c.2059G>T (p.Ala687Ser) c.1549G>T (p.Ala517Ser) c.*2005G>T (n.*2005G>T) c.3403G>T (p.Ala1135Ser) c.3385G>T (p.Ala1129Ser) | |
| 22 | g.50721240C>A | CA515261539 | SHANK3 | c.3008C>A (p.Ala1003Asp) n.3592C>A c.2060C>A (p.Ala687Asp) c.1550C>A (p.Ala517Asp) c.*2006C>A (n.*2006C>A) c.3404C>A (p.Ala1135Asp) c.3386C>A (p.Ala1129Asp) | gnomAD v4 |
| 22 | g.50721240C= | CA2411008111 | SHANK3 | c.3008C= (p.Ala1003=) n.3592C= c.2060C= (p.Ala687=) c.1550C= (p.Ala517=) c.*2006C= (n.*2006C=) c.3404C= (p.Ala1135=) c.3386C= (p.Ala1129=) | |
| 22 | g.50721240C>G | CA515261540 | SHANK3 | c.3008C>G (p.Ala1003Gly) n.3592C>G c.2060C>G (p.Ala687Gly) c.1550C>G (p.Ala517Gly) c.*2006C>G (n.*2006C>G) c.3404C>G (p.Ala1135Gly) c.3386C>G (p.Ala1129Gly) | gnomAD v4 |
| 22 | g.50721240C>T | CA325578829 | SHANK3 | c.3008C>T (p.Ala1003Val) n.3592C>T c.2060C>T (p.Ala687Val) c.1550C>T (p.Ala517Val) c.*2006C>T (n.*2006C>T) c.3404C>T (p.Ala1135Val) c.3386C>T (p.Ala1129Val) | dbSNP |
| 22 | g.50721241C>A | CA515261541 | SHANK3 | c.3009C>A (p.Ala1003=) n.3593C>A c.2061C>A (p.Ala687=) c.1551C>A (p.Ala517=) c.*2007C>A (n.*2007C>A) c.3405C>A (p.Ala1135=) c.3387C>A (p.Ala1129=) | gnomAD v4 |
| 22 | g.50721241C= | CA2411008112 | SHANK3 | c.3009C= (p.Ala1003=) n.3593C= c.2061C= (p.Ala687=) c.1551C= (p.Ala517=) c.*2007C= (n.*2007C=) c.3405C= (p.Ala1135=) c.3387C= (p.Ala1129=) | |
| 22 | g.50721241C>G | CA515261542 | SHANK3 | c.3009C>G (p.Ala1003=) n.3593C>G c.2061C>G (p.Ala687=) c.1551C>G (p.Ala517=) c.*2007C>G (n.*2007C>G) c.3405C>G (p.Ala1135=) c.3387C>G (p.Ala1129=) | |
| 22 | g.50721241C>T | CA10326021 | SHANK3 | c.3009C>T (p.Ala1003=) n.3593C>T c.2061C>T (p.Ala687=) c.1551C>T (p.Ala517=) c.*2007C>T (n.*2007C>T) c.3405C>T (p.Ala1135=) c.3387C>T (p.Ala1129=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721242G>A | CA515261545 | SHANK3 | c.3010G>A (p.Asp1004Asn) n.3594G>A c.2062G>A (p.Asp688Asn) c.1552G>A (p.Asp518Asn) c.*2008G>A (n.*2008G>A) c.3406G>A (p.Asp1136Asn) c.3388G>A (p.Asp1130Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721242G>C | CA515261544 | SHANK3 | c.3010G>C (p.Asp1004His) n.3594G>C c.2062G>C (p.Asp688His) c.1552G>C (p.Asp518His) c.*2008G>C (n.*2008G>C) c.3406G>C (p.Asp1136His) c.3388G>C (p.Asp1130His) | |
| 22 | g.50721242G= | CA2411008113 | SHANK3 | c.3010G= (p.Asp1004=) n.3594G= c.2062G= (p.Asp688=) c.1552G= (p.Asp518=) c.*2008G= (n.*2008G=) c.3406G= (p.Asp1136=) c.3388G= (p.Asp1130=) | |
| 22 | g.50721242G>T | CA515261543 | SHANK3 | c.3010G>T (p.Asp1004Tyr) n.3594G>T c.2062G>T (p.Asp688Tyr) c.1552G>T (p.Asp518Tyr) c.*2008G>T (n.*2008G>T) c.3406G>T (p.Asp1136Tyr) c.3388G>T (p.Asp1130Tyr) | dbSNP gnomAD v2 |
| 22 | g.50721243A>C | CA515261546 | SHANK3 | c.3011A>C (p.Asp1004Ala) n.3595A>C c.2063A>C (p.Asp688Ala) c.1553A>C (p.Asp518Ala) c.*2009A>C (n.*2009A>C) c.3407A>C (p.Asp1136Ala) c.3389A>C (p.Asp1130Ala) | |
| 22 | g.50721243A>G | CA515261548 | SHANK3 | c.3011A>G (p.Asp1004Gly) n.3595A>G c.2063A>G (p.Asp688Gly) c.1553A>G (p.Asp518Gly) c.*2009A>G (n.*2009A>G) c.3407A>G (p.Asp1136Gly) c.3389A>G (p.Asp1130Gly) | |
| 22 | g.50721243A>T | CA515261547 | SHANK3 | c.3011A>T (p.Asp1004Val) n.3595A>T c.2063A>T (p.Asp688Val) c.1553A>T (p.Asp518Val) c.*2009A>T (n.*2009A>T) c.3407A>T (p.Asp1136Val) c.3389A>T (p.Asp1130Val) | |
| 22 | g.50721243dup | CA2580099986 | SHANK3 | c.3011dup (p.Asp1004GlufsTer?) n.3595dup c.2063dup (p.Asp688GlufsTer?) c.1553dup (p.Asp518GlufsTer?) c.*2009dup (n.*2009dup) c.3407dup (p.Asp1136GlufsTer?) c.3389dup (p.Asp1130GlufsTer?) | ClinVar |
| 22 | g.50721244C>A | CA515261549 | SHANK3 | c.3012C>A (p.Asp1004Glu) n.3596C>A c.2064C>A (p.Asp688Glu) c.1554C>A (p.Asp518Glu) c.*2010C>A (n.*2010C>A) c.3408C>A (p.Asp1136Glu) c.3390C>A (p.Asp1130Glu) | |
| 22 | g.50721244C>G | CA515261550 | SHANK3 | c.3012C>G (p.Asp1004Glu) n.3596C>G c.2064C>G (p.Asp688Glu) c.1554C>G (p.Asp518Glu) c.*2010C>G (n.*2010C>G) c.3408C>G (p.Asp1136Glu) c.3390C>G (p.Asp1130Glu) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50721244C>T | CA515261551 | SHANK3 | c.3012C>T (p.Asp1004=) n.3596C>T c.2064C>T (p.Asp688=) c.1554C>T (p.Asp518=) c.*2010C>T (n.*2010C>T) c.3408C>T (p.Asp1136=) c.3390C>T (p.Asp1130=) | gnomAD v4 |
| 22 | g.50721245C>A | CA515261552 | SHANK3 | c.3013C>A (p.Arg1005Ser) n.3597C>A c.2065C>A (p.Arg689Ser) c.1555C>A (p.Arg519Ser) c.*2011C>A (n.*2011C>A) c.3409C>A (p.Arg1137Ser) c.3391C>A (p.Arg1131Ser) | dbSNP gnomAD v4 |
| 22 | g.50721245C= | CA2411008114 | SHANK3 | c.3013C= (p.Arg1005=) n.3597C= c.2065C= (p.Arg689=) c.1555C= (p.Arg519=) c.*2011C= (n.*2011C=) c.3409C= (p.Arg1137=) c.3391C= (p.Arg1131=) | |
| 22 | g.50721245C>G | CA515261553 | SHANK3 | c.3013C>G (p.Arg1005Gly) n.3597C>G c.2065C>G (p.Arg689Gly) c.1555C>G (p.Arg519Gly) c.*2011C>G (n.*2011C>G) c.3409C>G (p.Arg1137Gly) c.3391C>G (p.Arg1131Gly) | dbSNP |
| 22 | g.50721245C>T | CA10326022 | SHANK3 | c.3013C>T (p.Arg1005Cys) n.3597C>T c.2065C>T (p.Arg689Cys) c.1555C>T (p.Arg519Cys) c.*2011C>T (n.*2011C>T) c.3409C>T (p.Arg1137Cys) c.3391C>T (p.Arg1131Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 22 | g.50721246G>A | CA10326023 | SHANK3 | c.3014G>A (p.Arg1005His) n.3598G>A c.2066G>A (p.Arg689His) c.1556G>A (p.Arg519His) c.*2012G>A (n.*2012G>A) c.3410G>A (p.Arg1137His) c.3392G>A (p.Arg1131His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721246G>C | CA515261554 | SHANK3 | c.3014G>C (p.Arg1005Pro) n.3598G>C c.2066G>C (p.Arg689Pro) c.1556G>C (p.Arg519Pro) c.*2012G>C (n.*2012G>C) c.3410G>C (p.Arg1137Pro) c.3392G>C (p.Arg1131Pro) | |
| 22 | g.50721246G= | CA2411008115 | SHANK3 | c.3014G= (p.Arg1005=) n.3598G= c.2066G= (p.Arg689=) c.1556G= (p.Arg519=) c.*2012G= (n.*2012G=) c.3410G= (p.Arg1137=) c.3392G= (p.Arg1131=) | |
| 22 | g.50721246G>T | CA515261555 | SHANK3 | c.3014G>T (p.Arg1005Leu) n.3598G>T c.2066G>T (p.Arg689Leu) c.1556G>T (p.Arg519Leu) c.*2012G>T (n.*2012G>T) c.3410G>T (p.Arg1137Leu) c.3392G>T (p.Arg1131Leu) | gnomAD v4 |
| 22 | g.50721247C>A | CA515261556 | SHANK3 | c.3015C>A (p.Arg1005=) n.3599C>A c.2067C>A (p.Arg689=) c.1557C>A (p.Arg519=) c.*2013C>A (n.*2013C>A) c.3411C>A (p.Arg1137=) c.3393C>A (p.Arg1131=) | gnomAD v4 |
| 22 | g.50721247C= | CA2411008116 | SHANK3 | c.3015C= (p.Arg1005=) n.3599C= c.2067C= (p.Arg689=) c.1557C= (p.Arg519=) c.*2013C= (n.*2013C=) c.3411C= (p.Arg1137=) c.3393C= (p.Arg1131=) | |
| 22 | g.50721247C>G | CA515261557 | SHANK3 | c.3015C>G (p.Arg1005=) n.3599C>G c.2067C>G (p.Arg689=) c.1557C>G (p.Arg519=) c.*2013C>G (n.*2013C>G) c.3411C>G (p.Arg1137=) c.3393C>G (p.Arg1131=) | |
| 22 | g.50721247C>T | CA515261558 | SHANK3 | c.3015C>T (p.Arg1005=) n.3599C>T c.2067C>T (p.Arg689=) c.1557C>T (p.Arg519=) c.*2013C>T (n.*2013C>T) c.3411C>T (p.Arg1137=) c.3393C>T (p.Arg1131=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721248C>A | CA515261559 | SHANK3 | c.3016C>A (p.Pro1006Thr) n.3600C>A c.2068C>A (p.Pro690Thr) c.1558C>A (p.Pro520Thr) c.*2014C>A (n.*2014C>A) c.3412C>A (p.Pro1138Thr) c.3394C>A (p.Pro1132Thr) | gnomAD v4 |
| 22 | g.50721248C>G | CA515261561 | SHANK3 | c.3016C>G (p.Pro1006Ala) n.3600C>G c.2068C>G (p.Pro690Ala) c.1558C>G (p.Pro520Ala) c.*2014C>G (n.*2014C>G) c.3412C>G (p.Pro1138Ala) c.3394C>G (p.Pro1132Ala) | |
| 22 | g.50721248C>T | CA515261560 | SHANK3 | c.3016C>T (p.Pro1006Ser) n.3600C>T c.2068C>T (p.Pro690Ser) c.1558C>T (p.Pro520Ser) c.*2014C>T (n.*2014C>T) c.3412C>T (p.Pro1138Ser) c.3394C>T (p.Pro1132Ser) | gnomAD v4 |
| 22 | g.50721249C>A | CA515261562 | SHANK3 | c.3017C>A (p.Pro1006His) n.3601C>A c.2069C>A (p.Pro690His) c.1559C>A (p.Pro520His) c.*2015C>A (n.*2015C>A) c.3413C>A (p.Pro1138His) c.3395C>A (p.Pro1132His) | |
| 22 | g.50721249C= | CA2411008117 | SHANK3 | c.3017C= (p.Pro1006=) n.3601C= c.2069C= (p.Pro690=) c.1559C= (p.Pro520=) c.*2015C= (n.*2015C=) c.3413C= (p.Pro1138=) c.3395C= (p.Pro1132=) | |
| 22 | g.50721249C>G | CA515261563 | SHANK3 | c.3017C>G (p.Pro1006Arg) n.3601C>G c.2069C>G (p.Pro690Arg) c.1559C>G (p.Pro520Arg) c.*2015C>G (n.*2015C>G) c.3413C>G (p.Pro1138Arg) c.3395C>G (p.Pro1132Arg) | dbSNP |
| 22 | g.50721249C>T | CA10326024 | SHANK3 | c.3017C>T (p.Pro1006Leu) n.3601C>T c.2069C>T (p.Pro690Leu) c.1559C>T (p.Pro520Leu) c.*2015C>T (n.*2015C>T) c.3413C>T (p.Pro1138Leu) c.3395C>T (p.Pro1132Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721250C>A | CA515261564 | SHANK3 | c.3018C>A (p.Pro1006=) n.3602C>A c.2070C>A (p.Pro690=) c.1560C>A (p.Pro520=) c.*2016C>A (n.*2016C>A) c.3414C>A (p.Pro1138=) c.3396C>A (p.Pro1132=) | gnomAD v4 |
| 22 | g.50721250C= | CA2411008118 | SHANK3 | c.3018C= (p.Pro1006=) n.3602C= c.2070C= (p.Pro690=) c.1560C= (p.Pro520=) c.*2016C= (n.*2016C=) c.3414C= (p.Pro1138=) c.3396C= (p.Pro1132=) | |
| 22 | g.50721250C>G | CA325578856 | SHANK3 | c.3018C>G (p.Pro1006=) n.3602C>G c.2070C>G (p.Pro690=) c.1560C>G (p.Pro520=) c.*2016C>G (n.*2016C>G) c.3414C>G (p.Pro1138=) c.3396C>G (p.Pro1132=) | dbSNP gnomAD v2 |
| 22 | g.50721250C>T | CA515261565 | SHANK3 | c.3018C>T (p.Pro1006=) n.3602C>T c.2070C>T (p.Pro690=) c.1560C>T (p.Pro520=) c.*2016C>T (n.*2016C>T) c.3414C>T (p.Pro1138=) c.3396C>T (p.Pro1132=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721251G>A | CA10326025 | SHANK3 | c.3019G>A (p.Gly1007Arg) n.3603G>A c.2071G>A (p.Gly691Arg) c.1561G>A (p.Gly521Arg) c.*2017G>A (n.*2017G>A) c.3415G>A (p.Gly1139Arg) c.3397G>A (p.Gly1133Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 22 | g.50721251G>C | CA515261566 | SHANK3 | c.3019G>C (p.Gly1007Arg) n.3603G>C c.2071G>C (p.Gly691Arg) c.1561G>C (p.Gly521Arg) c.*2017G>C (n.*2017G>C) c.3415G>C (p.Gly1139Arg) c.3397G>C (p.Gly1133Arg) | |
| 22 | g.50721251G= | CA2411008119 | SHANK3 | c.3019G= (p.Gly1007=) n.3603G= c.2071G= (p.Gly691=) c.1561G= (p.Gly521=) c.*2017G= (n.*2017G=) c.3415G= (p.Gly1139=) c.3397G= (p.Gly1133=) | |
| 22 | g.50721251G>T | CA515261567 | SHANK3 | c.3019G>T (p.Gly1007Ter) n.3603G>T c.2071G>T (p.Gly691Ter) c.1561G>T (p.Gly521Ter) c.*2017G>T (n.*2017G>T) c.3415G>T (p.Gly1139Ter) c.3397G>T (p.Gly1133Ter) | |
| 22 | g.50721252G>A | CA10326026 | SHANK3 | c.3020G>A (p.Gly1007Glu) n.3604G>A c.2072G>A (p.Gly691Glu) c.1562G>A (p.Gly521Glu) c.*2018G>A (n.*2018G>A) c.3416G>A (p.Gly1139Glu) c.3398G>A (p.Gly1133Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721252G>C | CA515261569 | SHANK3 | c.3020G>C (p.Gly1007Ala) n.3604G>C c.2072G>C (p.Gly691Ala) c.1562G>C (p.Gly521Ala) c.*2018G>C (n.*2018G>C) c.3416G>C (p.Gly1139Ala) c.3398G>C (p.Gly1133Ala) | gnomAD v4 |
| 22 | g.50721252G= | CA2411008120 | SHANK3 | c.3020G= (p.Gly1007=) n.3604G= c.2072G= (p.Gly691=) c.1562G= (p.Gly521=) c.*2018G= (n.*2018G=) c.3416G= (p.Gly1139=) c.3398G= (p.Gly1133=) | |
| 22 | g.50721252G>T | CA515261568 | SHANK3 | c.3020G>T (p.Gly1007Val) n.3604G>T c.2072G>T (p.Gly691Val) c.1562G>T (p.Gly521Val) c.*2018G>T (n.*2018G>T) c.3416G>T (p.Gly1139Val) c.3398G>T (p.Gly1133Val) | |
| 22 | g.50721253A= | CA2411008121 | SHANK3 | c.3021A= (p.Gly1007=) n.3605A= c.2073A= (p.Gly691=) c.1563A= (p.Gly521=) c.*2019A= (n.*2019A=) c.3417A= (p.Gly1139=) c.3399A= (p.Gly1133=) | |
| 22 | g.50721253A>C | CA515261570 | SHANK3 | c.3021A>C (p.Gly1007=) n.3605A>C c.2073A>C (p.Gly691=) c.1563A>C (p.Gly521=) c.*2019A>C (n.*2019A>C) c.3417A>C (p.Gly1139=) c.3399A>C (p.Gly1133=) | |
| 22 | g.50721253A>G | CA325578875 | SHANK3 | c.3021A>G (p.Gly1007=) n.3605A>G c.2073A>G (p.Gly691=) c.1563A>G (p.Gly521=) c.*2019A>G (n.*2019A>G) c.3417A>G (p.Gly1139=) c.3399A>G (p.Gly1133=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721253A>T | CA515261571 | SHANK3 | c.3021A>T (p.Gly1007=) n.3605A>T c.2073A>T (p.Gly691=) c.1563A>T (p.Gly521=) c.*2019A>T (n.*2019A>T) c.3417A>T (p.Gly1139=) c.3399A>T (p.Gly1133=) | |
| 22 | g.50721254C>A | CA515261572 | SHANK3 | c.3022C>A (p.Pro1008Thr) n.3606C>A c.2074C>A (p.Pro692Thr) c.1564C>A (p.Pro522Thr) c.*2020C>A (n.*2020C>A) c.3418C>A (p.Pro1140Thr) c.3400C>A (p.Pro1134Thr) | gnomAD v4 |
| 22 | g.50721254C= | CA2411008122 | SHANK3 | c.3022C= (p.Pro1008=) n.3606C= c.2074C= (p.Pro692=) c.1564C= (p.Pro522=) c.*2020C= (n.*2020C=) c.3418C= (p.Pro1140=) c.3400C= (p.Pro1134=) | |
| 22 | g.50721254C>G | CA515261573 | SHANK3 | c.3022C>G (p.Pro1008Ala) n.3606C>G c.2074C>G (p.Pro692Ala) c.1564C>G (p.Pro522Ala) c.*2020C>G (n.*2020C>G) c.3418C>G (p.Pro1140Ala) c.3400C>G (p.Pro1134Ala) | ClinVar dbSNP |
| 22 | g.50721254C>T | CA515261574 | SHANK3 | c.3022C>T (p.Pro1008Ser) n.3606C>T c.2074C>T (p.Pro692Ser) c.1564C>T (p.Pro522Ser) c.*2020C>T (n.*2020C>T) c.3418C>T (p.Pro1140Ser) c.3400C>T (p.Pro1134Ser) | gnomAD v4 |
| 22 | g.50721255C>A | CA515261575 | SHANK3 | c.3023C>A (p.Pro1008His) n.3607C>A c.2075C>A (p.Pro692His) c.1565C>A (p.Pro522His) c.*2021C>A (n.*2021C>A) c.3419C>A (p.Pro1140His) c.3401C>A (p.Pro1134His) | |
| 22 | g.50721255C= | CA2411008123 | SHANK3 | c.3023C= (p.Pro1008=) n.3607C= c.2075C= (p.Pro692=) c.1565C= (p.Pro522=) c.*2021C= (n.*2021C=) c.3419C= (p.Pro1140=) c.3401C= (p.Pro1134=) | |
| 22 | g.50721255C>G | CA515261576 | SHANK3 | c.3023C>G (p.Pro1008Arg) n.3607C>G c.2075C>G (p.Pro692Arg) c.1565C>G (p.Pro522Arg) c.*2021C>G (n.*2021C>G) c.3419C>G (p.Pro1140Arg) c.3401C>G (p.Pro1134Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721255C>T | CA515261577 | SHANK3 | c.3023C>T (p.Pro1008Leu) n.3607C>T c.2075C>T (p.Pro692Leu) c.1565C>T (p.Pro522Leu) c.*2021C>T (n.*2021C>T) c.3419C>T (p.Pro1140Leu) c.3401C>T (p.Pro1134Leu) | dbSNP gnomAD v4 |
| 22 | g.50721256C>A | CA515261578 | SHANK3 | c.3024C>A (p.Pro1008=) n.3608C>A c.2076C>A (p.Pro692=) c.1566C>A (p.Pro522=) c.*2022C>A (n.*2022C>A) c.3420C>A (p.Pro1140=) c.3402C>A (p.Pro1134=) | |
| 22 | g.50721256C= | CA2411008125 | SHANK3 | c.3024C= (p.Pro1008=) n.3608C= c.2076C= (p.Pro692=) c.1566C= (p.Pro522=) c.*2022C= (n.*2022C=) c.3420C= (p.Pro1140=) c.3402C= (p.Pro1134=) | |
| 22 | g.50721256C>G | CA515261579 | SHANK3 | c.3024C>G (p.Pro1008=) n.3608C>G c.2076C>G (p.Pro692=) c.1566C>G (p.Pro522=) c.*2022C>G (n.*2022C>G) c.3420C>G (p.Pro1140=) c.3402C>G (p.Pro1134=) | dbSNP gnomAD v4 |
| 22 | g.50721256C>T | CA515261580 | SHANK3 | c.3024C>T (p.Pro1008=) n.3608C>T c.2076C>T (p.Pro692=) c.1566C>T (p.Pro522=) c.*2022C>T (n.*2022C>T) c.3420C>T (p.Pro1140=) c.3402C>T (p.Pro1134=) | ClinVar gnomAD v4 |
| 22 | g.50721256_50721258delinsCCT | CA2411008124 | SHANK3 | c.3024_3026delinsCCT (p.Pro1008=) n.3608_3610delinsCCT c.2076_2078delinsCCT (p.Pro692=) c.1566_1568delinsCCT (p.Pro522=) c.*2022_*2024delinsCCT (n.*2022_*2024delinsCCT) c.3420_3422delinsCCT (p.Pro1140=) c.3402_3404delinsCCT (p.Pro1134=) | |
| 22 | g.50721257C>A | CA515261583 | SHANK3 | c.3025C>A (p.Leu1009Met) n.3609C>A c.2077C>A (p.Leu693Met) c.1567C>A (p.Leu523Met) c.*2023C>A (n.*2023C>A) c.3421C>A (p.Leu1141Met) c.3403C>A (p.Leu1135Met) | |
| 22 | g.50721257C= | CA2411008126 | SHANK3 | c.3025C= (p.Leu1009=) n.3609C= c.2077C= (p.Leu693=) c.1567C= (p.Leu523=) c.*2023C= (n.*2023C=) c.3421C= (p.Leu1141=) c.3403C= (p.Leu1135=) | |
| 22 | g.50721257C>G | CA515261582 | SHANK3 | c.3025C>G (p.Leu1009Val) n.3609C>G c.2077C>G (p.Leu693Val) c.1567C>G (p.Leu523Val) c.*2023C>G (n.*2023C>G) c.3421C>G (p.Leu1141Val) c.3403C>G (p.Leu1135Val) | |
| 22 | g.50721257C>T | CA515261581 | SHANK3 | c.3025C>T (p.Leu1009=) n.3609C>T c.2077C>T (p.Leu693=) c.1567C>T (p.Leu523=) c.*2023C>T (n.*2023C>T) c.3421C>T (p.Leu1141=) c.3403C>T (p.Leu1135=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721257_50721258del | CA16043254 | SHANK3 | c.3025_3026del (p.Leu1009ValfsTer?) n.3609_3610del c.2077_2078del (p.Leu693ValfsTer?) c.1567_1568del (p.Leu523ValfsTer?) c.*2023_*2024del (n.*2023_*2024del) c.3421_3422del (p.Leu1141ValfsTer?) c.3403_3404del (p.Leu1135ValfsTer?) | ClinVar dbSNP |
| 22 | g.50721258T>A | CA515261584 | SHANK3 | c.3026T>A (p.Leu1009Gln) n.3610T>A c.2078T>A (p.Leu693Gln) c.1568T>A (p.Leu523Gln) c.*2024T>A (n.*2024T>A) c.3422T>A (p.Leu1141Gln) c.3404T>A (p.Leu1135Gln) | |
| 22 | g.50721258T>C | CA515261585 | SHANK3 | c.3026T>C (p.Leu1009Pro) n.3610T>C c.2078T>C (p.Leu693Pro) c.1568T>C (p.Leu523Pro) c.*2024T>C (n.*2024T>C) c.3422T>C (p.Leu1141Pro) c.3404T>C (p.Leu1135Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 22 | g.50721258T>G | CA10326027 | SHANK3 | c.3026T>G (p.Leu1009Arg) n.3610T>G c.2078T>G (p.Leu693Arg) c.1568T>G (p.Leu523Arg) c.*2024T>G (n.*2024T>G) c.3422T>G (p.Leu1141Arg) c.3404T>G (p.Leu1135Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721258T= | CA2411008127 | SHANK3 | c.3026T= (p.Leu1009=) n.3610T= c.2078T= (p.Leu693=) c.1568T= (p.Leu523=) c.*2024T= (n.*2024T=) c.3422T= (p.Leu1141=) c.3404T= (p.Leu1135=) | |
| 22 | g.50721259G>A | CA10326028 | SHANK3 | c.3027G>A (p.Leu1009=) n.3611G>A c.2079G>A (p.Leu693=) c.1569G>A (p.Leu523=) c.*2025G>A (n.*2025G>A) c.3423G>A (p.Leu1141=) c.3405G>A (p.Leu1135=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721259G>C | CA515261586 | SHANK3 | c.3027G>C (p.Leu1009=) n.3611G>C c.2079G>C (p.Leu693=) c.1569G>C (p.Leu523=) c.*2025G>C (n.*2025G>C) c.3423G>C (p.Leu1141=) c.3405G>C (p.Leu1135=) | |
| 22 | g.50721259G= | CA2411008128 | SHANK3 | c.3027G= (p.Leu1009=) n.3611G= c.2079G= (p.Leu693=) c.1569G= (p.Leu523=) c.*2025G= (n.*2025G=) c.3423G= (p.Leu1141=) c.3405G= (p.Leu1135=) | |
| 22 | g.50721259G>T | CA515261587 | SHANK3 | c.3027G>T (p.Leu1009=) n.3611G>T c.2079G>T (p.Leu693=) c.1569G>T (p.Leu523=) c.*2025G>T (n.*2025G>T) c.3423G>T (p.Leu1141=) c.3405G>T (p.Leu1135=) | |
| 22 | g.50721260T>A | CA515261588 | SHANK3 | c.3028T>A (p.Phe1010Ile) n.3612T>A c.2080T>A (p.Phe694Ile) c.1570T>A (p.Phe524Ile) c.*2026T>A (n.*2026T>A) c.3424T>A (p.Phe1142Ile) c.3406T>A (p.Phe1136Ile) | |
| 22 | g.50721260T>C | CA10326029 | SHANK3 | c.3028T>C (p.Phe1010Leu) n.3612T>C c.2080T>C (p.Phe694Leu) c.1570T>C (p.Phe524Leu) c.*2026T>C (n.*2026T>C) c.3424T>C (p.Phe1142Leu) c.3406T>C (p.Phe1136Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721260T>G | CA515261589 | SHANK3 | c.3028T>G (p.Phe1010Val) n.3612T>G c.2080T>G (p.Phe694Val) c.1570T>G (p.Phe524Val) c.*2026T>G (n.*2026T>G) c.3424T>G (p.Phe1142Val) c.3406T>G (p.Phe1136Val) | |
| 22 | g.50721260T= | CA2411008129 | SHANK3 | c.3028T= (p.Phe1010=) n.3612T= c.2080T= (p.Phe694=) c.1570T= (p.Phe524=) c.*2026T= (n.*2026T=) c.3424T= (p.Phe1142=) c.3406T= (p.Phe1136=) | |
| 22 | g.50721261T>A | CA515261590 | SHANK3 | c.3029T>A (p.Phe1010Tyr) n.3613T>A c.2081T>A (p.Phe694Tyr) c.1571T>A (p.Phe524Tyr) c.*2027T>A (n.*2027T>A) c.3425T>A (p.Phe1142Tyr) c.3407T>A (p.Phe1136Tyr) | |
| 22 | g.50721261T>C | CA515261591 | SHANK3 | c.3029T>C (p.Phe1010Ser) n.3613T>C c.2081T>C (p.Phe694Ser) c.1571T>C (p.Phe524Ser) c.*2027T>C (n.*2027T>C) c.3425T>C (p.Phe1142Ser) c.3407T>C (p.Phe1136Ser) | |
| 22 | g.50721261T>G | CA515261592 | SHANK3 | c.3029T>G (p.Phe1010Cys) n.3613T>G c.2081T>G (p.Phe694Cys) c.1571T>G (p.Phe524Cys) c.*2027T>G (n.*2027T>G) c.3425T>G (p.Phe1142Cys) c.3407T>G (p.Phe1136Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721261T= | CA2411008130 | SHANK3 | c.3029T= (p.Phe1010=) n.3613T= c.2081T= (p.Phe694=) c.1571T= (p.Phe524=) c.*2027T= (n.*2027T=) c.3425T= (p.Phe1142=) c.3407T= (p.Phe1136=) | |
| 22 | g.50721262T>A | CA515261595 | SHANK3 | c.3030T>A (p.Phe1010Leu) n.3614T>A c.2082T>A (p.Phe694Leu) c.1572T>A (p.Phe524Leu) c.*2028T>A (n.*2028T>A) c.3426T>A (p.Phe1142Leu) c.3408T>A (p.Phe1136Leu) | |
| 22 | g.50721262T>C | CA515261594 | SHANK3 | c.3030T>C (p.Phe1010=) n.3614T>C c.2082T>C (p.Phe694=) c.1572T>C (p.Phe524=) c.*2028T>C (n.*2028T>C) c.3426T>C (p.Phe1142=) c.3408T>C (p.Phe1136=) | COSMIC COSMIC |
| 22 | g.50721262T>G | CA515261593 | SHANK3 | c.3030T>G (p.Phe1010Leu) n.3614T>G c.2082T>G (p.Phe694Leu) c.1572T>G (p.Phe524Leu) c.*2028T>G (n.*2028T>G) c.3426T>G (p.Phe1142Leu) c.3408T>G (p.Phe1136Leu) | |
| 22 | g.50721263G>A | CA515261596 | SHANK3 | c.3031G>A (p.Val1011Met) n.3615G>A c.2083G>A (p.Val695Met) c.1573G>A (p.Val525Met) c.*2029G>A (n.*2029G>A) c.3427G>A (p.Val1143Met) c.3409G>A (p.Val1137Met) | |
| 22 | g.50721263G>C | CA515261598 | SHANK3 | c.3031G>C (p.Val1011Leu) n.3615G>C c.2083G>C (p.Val695Leu) c.1573G>C (p.Val525Leu) c.*2029G>C (n.*2029G>C) c.3427G>C (p.Val1143Leu) c.3409G>C (p.Val1137Leu) | |
| 22 | g.50721263G>T | CA515261597 | SHANK3 | c.3031G>T (p.Val1011Leu) n.3615G>T c.2083G>T (p.Val695Leu) c.1573G>T (p.Val525Leu) c.*2029G>T (n.*2029G>T) c.3427G>T (p.Val1143Leu) c.3409G>T (p.Val1137Leu) | |
| 22 | g.50721264T>A | CA515261599 | SHANK3 | c.3032T>A (p.Val1011Glu) n.3616T>A c.2084T>A (p.Val695Glu) c.1574T>A (p.Val525Glu) c.*2030T>A (n.*2030T>A) c.3428T>A (p.Val1143Glu) c.3410T>A (p.Val1137Glu) | |
| 22 | g.50721264T>C | CA515261600 | SHANK3 | c.3032T>C (p.Val1011Ala) n.3616T>C c.2084T>C (p.Val695Ala) c.1574T>C (p.Val525Ala) c.*2030T>C (n.*2030T>C) c.3428T>C (p.Val1143Ala) c.3410T>C (p.Val1137Ala) | ClinVar gnomAD v4 |
| 22 | g.50721264T>G | CA325578888 | SHANK3 | c.3032T>G (p.Val1011Gly) n.3616T>G c.2084T>G (p.Val695Gly) c.1574T>G (p.Val525Gly) c.*2030T>G (n.*2030T>G) c.3428T>G (p.Val1143Gly) c.3410T>G (p.Val1137Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721264T= | CA2411008131 | SHANK3 | c.3032T= (p.Val1011=) n.3616T= c.2084T= (p.Val695=) c.1574T= (p.Val525=) c.*2030T= (n.*2030T=) c.3428T= (p.Val1143=) c.3410T= (p.Val1137=) | |
| 22 | g.50721265G>A | CA515261601 | SHANK3 | c.3033G>A (p.Val1011=) n.3617G>A c.2085G>A (p.Val695=) c.1575G>A (p.Val525=) c.*2031G>A (n.*2031G>A) c.3429G>A (p.Val1143=) c.3411G>A (p.Val1137=) | |
| 22 | g.50721265G>C | CA515261602 | SHANK3 | c.3033G>C (p.Val1011=) n.3617G>C c.2085G>C (p.Val695=) c.1575G>C (p.Val525=) c.*2031G>C (n.*2031G>C) c.3429G>C (p.Val1143=) c.3411G>C (p.Val1137=) | |
| 22 | g.50721265G>T | CA515261603 | SHANK3 | c.3033G>T (p.Val1011=) n.3617G>T c.2085G>T (p.Val695=) c.1575G>T (p.Val525=) c.*2031G>T (n.*2031G>T) c.3429G>T (p.Val1143=) c.3411G>T (p.Val1137=) | |
| 22 | g.50721266G>A | CA10326030 | SHANK3 | c.3034G>A (p.Asp1012Asn) n.3618G>A c.2086G>A (p.Asp696Asn) c.1576G>A (p.Asp526Asn) c.*2032G>A (n.*2032G>A) c.3430G>A (p.Asp1144Asn) c.3412G>A (p.Asp1138Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721266G>C | CA325578910 | SHANK3 | c.3034G>C (p.Asp1012His) n.3618G>C c.2086G>C (p.Asp696His) c.1576G>C (p.Asp526His) c.*2032G>C (n.*2032G>C) c.3430G>C (p.Asp1144His) c.3412G>C (p.Asp1138His) | dbSNP |
| 22 | g.50721266G= | CA2411008132 | SHANK3 | c.3034G= (p.Asp1012=) n.3618G= c.2086G= (p.Asp696=) c.1576G= (p.Asp526=) c.*2032G= (n.*2032G=) c.3430G= (p.Asp1144=) c.3412G= (p.Asp1138=) | |
| 22 | g.50721266G>T | CA515261604 | SHANK3 | c.3034G>T (p.Asp1012Tyr) n.3618G>T c.2086G>T (p.Asp696Tyr) c.1576G>T (p.Asp526Tyr) c.*2032G>T (n.*2032G>T) c.3430G>T (p.Asp1144Tyr) c.3412G>T (p.Asp1138Tyr) | |
| 22 | g.50721267A>C | CA515261605 | SHANK3 | c.3035A>C (p.Asp1012Ala) n.3619A>C c.2087A>C (p.Asp696Ala) c.1577A>C (p.Asp526Ala) c.*2033A>C (n.*2033A>C) c.3431A>C (p.Asp1144Ala) c.3413A>C (p.Asp1138Ala) | |
| 22 | g.50721267A>G | CA515261606 | SHANK3 | c.3035A>G (p.Asp1012Gly) n.3619A>G c.2087A>G (p.Asp696Gly) c.1577A>G (p.Asp526Gly) c.*2033A>G (n.*2033A>G) c.3431A>G (p.Asp1144Gly) c.3413A>G (p.Asp1138Gly) | |
| 22 | g.50721267A>T | CA515261607 | SHANK3 | c.3035A>T (p.Asp1012Val) n.3619A>T c.2087A>T (p.Asp696Val) c.1577A>T (p.Asp526Val) c.*2033A>T (n.*2033A>T) c.3431A>T (p.Asp1144Val) c.3413A>T (p.Asp1138Val) | |
| 22 | g.50721268T>A | CA515261608 | SHANK3 | c.3036T>A (p.Asp1012Glu) n.3620T>A c.2088T>A (p.Asp696Glu) c.1578T>A (p.Asp526Glu) c.*2034T>A (n.*2034T>A) c.3432T>A (p.Asp1144Glu) c.3414T>A (p.Asp1138Glu) | |
| 22 | g.50721268T>C | CA515261609 | SHANK3 | c.3036T>C (p.Asp1012=) n.3620T>C c.2088T>C (p.Asp696=) c.1578T>C (p.Asp526=) c.*2034T>C (n.*2034T>C) c.3432T>C (p.Asp1144=) c.3414T>C (p.Asp1138=) | COSMIC COSMIC |
| 22 | g.50721268T>G | CA515261610 | SHANK3 | c.3036T>G (p.Asp1012Glu) n.3620T>G c.2088T>G (p.Asp696Glu) c.1578T>G (p.Asp526Glu) c.*2034T>G (n.*2034T>G) c.3432T>G (p.Asp1144Glu) c.3414T>G (p.Asp1138Glu) | dbSNP |
| 22 | g.50721268T= | CA2411008133 | SHANK3 | c.3036T= (p.Asp1012=) n.3620T= c.2088T= (p.Asp696=) c.1578T= (p.Asp526=) c.*2034T= (n.*2034T=) c.3432T= (p.Asp1144=) c.3414T= (p.Asp1138=) | |
| 22 | g.50721269G>A | CA515261611 | SHANK3 | c.3037G>A (p.Val1013Ile) n.3621G>A c.2089G>A (p.Val697Ile) c.1579G>A (p.Val527Ile) c.*2035G>A (n.*2035G>A) c.3433G>A (p.Val1145Ile) c.3415G>A (p.Val1139Ile) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50721269G>C | CA515261613 | SHANK3 | c.3037G>C (p.Val1013Leu) n.3621G>C c.2089G>C (p.Val697Leu) c.1579G>C (p.Val527Leu) c.*2035G>C (n.*2035G>C) c.3433G>C (p.Val1145Leu) c.3415G>C (p.Val1139Leu) | |
| 22 | g.50721269G>T | CA515261612 | SHANK3 | c.3037G>T (p.Val1013Leu) n.3621G>T c.2089G>T (p.Val697Leu) c.1579G>T (p.Val527Leu) c.*2035G>T (n.*2035G>T) c.3433G>T (p.Val1145Leu) c.3415G>T (p.Val1139Leu) | gnomAD v4 |
| 22 | g.50721270T>A | CA515261614 | SHANK3 | c.3038T>A (p.Val1013Glu) n.3622T>A c.2090T>A (p.Val697Glu) c.1580T>A (p.Val527Glu) c.*2036T>A (n.*2036T>A) c.3434T>A (p.Val1145Glu) c.3416T>A (p.Val1139Glu) | |
| 22 | g.50721270T>C | CA515261615 | SHANK3 | c.3038T>C (p.Val1013Ala) n.3622T>C c.2090T>C (p.Val697Ala) c.1580T>C (p.Val527Ala) c.*2036T>C (n.*2036T>C) c.3434T>C (p.Val1145Ala) c.3416T>C (p.Val1139Ala) | gnomAD v4 |
| 22 | g.50721270T>G | CA515261616 | SHANK3 | c.3038T>G (p.Val1013Gly) n.3622T>G c.2090T>G (p.Val697Gly) c.1580T>G (p.Val527Gly) c.*2036T>G (n.*2036T>G) c.3434T>G (p.Val1145Gly) c.3416T>G (p.Val1139Gly) | |
| 22 | g.50721271A>C | CA515261617 | SHANK3 | c.3039A>C (p.Val1013=) n.3623A>C c.2091A>C (p.Val697=) c.1581A>C (p.Val527=) c.*2037A>C (n.*2037A>C) c.3435A>C (p.Val1145=) c.3417A>C (p.Val1139=) | |
| 22 | g.50721271A>G | CA515261618 | SHANK3 | c.3039A>G (p.Val1013=) n.3623A>G c.2091A>G (p.Val697=) c.1581A>G (p.Val527=) c.*2037A>G (n.*2037A>G) c.3435A>G (p.Val1145=) c.3417A>G (p.Val1139=) | gnomAD v4 |
| 22 | g.50721271A>T | CA515261619 | SHANK3 | c.3039A>T (p.Val1013=) n.3623A>T c.2091A>T (p.Val697=) c.1581A>T (p.Val527=) c.*2037A>T (n.*2037A>T) c.3435A>T (p.Val1145=) c.3417A>T (p.Val1139=) | |
| 22 | g.50721272C>A | CA515261620 | SHANK3 | c.3040C>A (p.Gln1014Lys) n.3624C>A c.2092C>A (p.Gln698Lys) c.1582C>A (p.Gln528Lys) c.*2038C>A (n.*2038C>A) c.3436C>A (p.Gln1146Lys) c.3418C>A (p.Gln1140Lys) | |
| 22 | g.50721272C= | CA2411008134 | SHANK3 | c.3040C= (p.Gln1014=) n.3624C= c.2092C= (p.Gln698=) c.1582C= (p.Gln528=) c.*2038C= (n.*2038C=) c.3436C= (p.Gln1146=) c.3418C= (p.Gln1140=) | |
| 22 | g.50721272C>G | CA10326031 | SHANK3 | c.3040C>G (p.Gln1014Glu) n.3624C>G c.2092C>G (p.Gln698Glu) c.1582C>G (p.Gln528Glu) c.*2038C>G (n.*2038C>G) c.3436C>G (p.Gln1146Glu) c.3418C>G (p.Gln1140Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721272C>T | CA515261621 | SHANK3 | c.3040C>T (p.Gln1014Ter) n.3624C>T c.2092C>T (p.Gln698Ter) c.1582C>T (p.Gln528Ter) c.*2038C>T (n.*2038C>T) c.3436C>T (p.Gln1146Ter) c.3418C>T (p.Gln1140Ter) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50721273A= | CA2411008135 | SHANK3 | c.3041A= (p.Gln1014=) n.3625A= c.2093A= (p.Gln698=) c.1583A= (p.Gln528=) c.*2039A= (n.*2039A=) c.3437A= (p.Gln1146=) c.3419A= (p.Gln1140=) | |
| 22 | g.50721273A>C | CA515261624 | SHANK3 | c.3041A>C (p.Gln1014Pro) n.3625A>C c.2093A>C (p.Gln698Pro) c.1583A>C (p.Gln528Pro) c.*2039A>C (n.*2039A>C) c.3437A>C (p.Gln1146Pro) c.3419A>C (p.Gln1140Pro) | |
| 22 | g.50721273A>G | CA515261623 | SHANK3 | c.3041A>G (p.Gln1014Arg) n.3625A>G c.2093A>G (p.Gln698Arg) c.1583A>G (p.Gln528Arg) c.*2039A>G (n.*2039A>G) c.3437A>G (p.Gln1146Arg) c.3419A>G (p.Gln1140Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721273A>T | CA515261622 | SHANK3 | c.3041A>T (p.Gln1014Leu) n.3625A>T c.2093A>T (p.Gln698Leu) c.1583A>T (p.Gln528Leu) c.*2039A>T (n.*2039A>T) c.3437A>T (p.Gln1146Leu) c.3419A>T (p.Gln1140Leu) | |
| 22 | g.50721274G>A | CA515261625 | SHANK3 | c.3042G>A (p.Gln1014=) n.3626G>A c.2094G>A (p.Gln698=) c.1584G>A (p.Gln528=) c.*2040G>A (n.*2040G>A) c.3438G>A (p.Gln1146=) c.3420G>A (p.Gln1140=) | gnomAD v4 |
| 22 | g.50721274G>C | CA515261626 | SHANK3 | c.3042G>C (p.Gln1014His) n.3626G>C c.2094G>C (p.Gln698His) c.1584G>C (p.Gln528His) c.*2040G>C (n.*2040G>C) c.3438G>C (p.Gln1146His) c.3420G>C (p.Gln1140His) | |
| 22 | g.50721274G>T | CA515261627 | SHANK3 | c.3042G>T (p.Gln1014His) n.3626G>T c.2094G>T (p.Gln698His) c.1584G>T (p.Gln528His) c.*2040G>T (n.*2040G>T) c.3438G>T (p.Gln1146His) c.3420G>T (p.Gln1140His) | |
| 22 | g.50721275G>A | CA515261628 | SHANK3 | c.3043G>A (p.Ala1015Thr) n.3627G>A c.2095G>A (p.Ala699Thr) c.1585G>A (p.Ala529Thr) c.*2041G>A (n.*2041G>A) c.3439G>A (p.Ala1147Thr) c.3421G>A (p.Ala1141Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721275G>C | CA515261629 | SHANK3 | c.3043G>C (p.Ala1015Pro) n.3627G>C c.2095G>C (p.Ala699Pro) c.1585G>C (p.Ala529Pro) c.*2041G>C (n.*2041G>C) c.3439G>C (p.Ala1147Pro) c.3421G>C (p.Ala1141Pro) | |
| 22 | g.50721275G= | CA2411008136 | SHANK3 | c.3043G= (p.Ala1015=) n.3627G= c.2095G= (p.Ala699=) c.1585G= (p.Ala529=) c.*2041G= (n.*2041G=) c.3439G= (p.Ala1147=) c.3421G= (p.Ala1141=) | |
| 22 | g.50721275G>T | CA515261630 | SHANK3 | c.3043G>T (p.Ala1015Ser) n.3627G>T c.2095G>T (p.Ala699Ser) c.1585G>T (p.Ala529Ser) c.*2041G>T (n.*2041G>T) c.3439G>T (p.Ala1147Ser) c.3421G>T (p.Ala1141Ser) | |
| 22 | g.50721276C>A | CA515261631 | SHANK3 | c.3044C>A (p.Ala1015Asp) n.3628C>A c.2096C>A (p.Ala699Asp) c.1586C>A (p.Ala529Asp) c.*2042C>A (n.*2042C>A) c.3440C>A (p.Ala1147Asp) c.3422C>A (p.Ala1141Asp) | gnomAD v4 |
| 22 | g.50721276C= | CA2411008137 | SHANK3 | c.3044C= (p.Ala1015=) n.3628C= c.2096C= (p.Ala699=) c.1586C= (p.Ala529=) c.*2042C= (n.*2042C=) c.3440C= (p.Ala1147=) c.3422C= (p.Ala1141=) | |
| 22 | g.50721276C>G | CA515261632 | SHANK3 | c.3044C>G (p.Ala1015Gly) n.3628C>G c.2096C>G (p.Ala699Gly) c.1586C>G (p.Ala529Gly) c.*2042C>G (n.*2042C>G) c.3440C>G (p.Ala1147Gly) c.3422C>G (p.Ala1141Gly) | gnomAD v4 |
| 22 | g.50721276C>T | CA10326032 | SHANK3 | c.3044C>T (p.Ala1015Val) n.3628C>T c.2096C>T (p.Ala699Val) c.1586C>T (p.Ala529Val) c.*2042C>T (n.*2042C>T) c.3440C>T (p.Ala1147Val) c.3422C>T (p.Ala1141Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721277C>A | CA515261633 | SHANK3 | c.3045C>A (p.Ala1015=) n.3629C>A c.2097C>A (p.Ala699=) c.1587C>A (p.Ala529=) c.*2043C>A (n.*2043C>A) c.3441C>A (p.Ala1147=) c.3423C>A (p.Ala1141=) | |
| 22 | g.50721277C= | CA2411008138 | SHANK3 | c.3045C= (p.Ala1015=) n.3629C= c.2097C= (p.Ala699=) c.1587C= (p.Ala529=) c.*2043C= (n.*2043C=) c.3441C= (p.Ala1147=) c.3423C= (p.Ala1141=) | |
| 22 | g.50721277C>G | CA515261634 | SHANK3 | c.3045C>G (p.Ala1015=) n.3629C>G c.2097C>G (p.Ala699=) c.1587C>G (p.Ala529=) c.*2043C>G (n.*2043C>G) c.3441C>G (p.Ala1147=) c.3423C>G (p.Ala1141=) | |
| 22 | g.50721277C>T | CA10326033 | SHANK3 | c.3045C>T (p.Ala1015=) n.3629C>T c.2097C>T (p.Ala699=) c.1587C>T (p.Ala529=) c.*2043C>T (n.*2043C>T) c.3441C>T (p.Ala1147=) c.3423C>T (p.Ala1141=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721278C>A | CA515261637 | SHANK3 | c.3046C>A (p.Arg1016=) n.3630C>A c.2098C>A (p.Arg700=) c.1588C>A (p.Arg530=) c.*2044C>A (n.*2044C>A) c.3442C>A (p.Arg1148=) c.3424C>A (p.Arg1142=) | |
| 22 | g.50721278C>G | CA515261635 | SHANK3 | c.3046C>G (p.Arg1016Gly) n.3630C>G c.2098C>G (p.Arg700Gly) c.1588C>G (p.Arg530Gly) c.*2044C>G (n.*2044C>G) c.3442C>G (p.Arg1148Gly) c.3424C>G (p.Arg1142Gly) | gnomAD v4 |
| 22 | g.50721278C>T | CA515261636 | SHANK3 | c.3046C>T (p.Arg1016Trp) n.3630C>T c.2098C>T (p.Arg700Trp) c.1588C>T (p.Arg530Trp) c.*2044C>T (n.*2044C>T) c.3442C>T (p.Arg1148Trp) c.3424C>T (p.Arg1142Trp) | gnomAD v4 |
| 22 | g.50721279G>A | CA515261639 | SHANK3 | c.3047G>A (p.Arg1016Gln) n.3631G>A c.2099G>A (p.Arg700Gln) c.1589G>A (p.Arg530Gln) c.*2045G>A (n.*2045G>A) c.3443G>A (p.Arg1148Gln) c.3425G>A (p.Arg1142Gln) | gnomAD v4 |
| 22 | g.50721279G>C | CA515261640 | SHANK3 | c.3047G>C (p.Arg1016Pro) n.3631G>C c.2099G>C (p.Arg700Pro) c.1589G>C (p.Arg530Pro) c.*2045G>C (n.*2045G>C) c.3443G>C (p.Arg1148Pro) c.3425G>C (p.Arg1142Pro) | |
| 22 | g.50721279G>T | CA515261641 | SHANK3 | c.3047G>T (p.Arg1016Leu) n.3631G>T c.2099G>T (p.Arg700Leu) c.1589G>T (p.Arg530Leu) c.*2045G>T (n.*2045G>T) c.3443G>T (p.Arg1148Leu) c.3425G>T (p.Arg1142Leu) | gnomAD v4 |
| 22 | g.50721280G>A | CA515261642 | SHANK3 | c.3048G>A (p.Arg1016=) n.3632G>A c.2100G>A (p.Arg700=) c.1590G>A (p.Arg530=) c.*2046G>A (n.*2046G>A) c.3444G>A (p.Arg1148=) c.3426G>A (p.Arg1142=) | |
| 22 | g.50721280G>C | CA515261643 | SHANK3 | c.3048G>C (p.Arg1016=) n.3632G>C c.2100G>C (p.Arg700=) c.1590G>C (p.Arg530=) c.*2046G>C (n.*2046G>C) c.3444G>C (p.Arg1148=) c.3426G>C (p.Arg1142=) | |
| 22 | g.50721280G>T | CA515261645 | SHANK3 | c.3048G>T (p.Arg1016=) n.3632G>T c.2100G>T (p.Arg700=) c.1590G>T (p.Arg530=) c.*2046G>T (n.*2046G>T) c.3444G>T (p.Arg1148=) c.3426G>T (p.Arg1142=) | |
| 22 | g.50721281G>A | CA515261647 | SHANK3 | c.3049G>A (p.Asp1017Asn) n.3633G>A c.2101G>A (p.Asp701Asn) c.1591G>A (p.Asp531Asn) c.*2047G>A (n.*2047G>A) c.3445G>A (p.Asp1149Asn) c.3427G>A (p.Asp1143Asn) | dbSNP gnomAD v2 |
| 22 | g.50721281G>C | CA515261649 | SHANK3 | c.3049G>C (p.Asp1017His) n.3633G>C c.2101G>C (p.Asp701His) c.1591G>C (p.Asp531His) c.*2047G>C (n.*2047G>C) c.3445G>C (p.Asp1149His) c.3427G>C (p.Asp1143His) | |
| 22 | g.50721281G= | CA2411008139 | SHANK3 | c.3049G= (p.Asp1017=) n.3633G= c.2101G= (p.Asp701=) c.1591G= (p.Asp531=) c.*2047G= (n.*2047G=) c.3445G= (p.Asp1149=) c.3427G= (p.Asp1143=) | |
| 22 | g.50721281G>T | CA515261650 | SHANK3 | c.3049G>T (p.Asp1017Tyr) n.3633G>T c.2101G>T (p.Asp701Tyr) c.1591G>T (p.Asp531Tyr) c.*2047G>T (n.*2047G>T) c.3445G>T (p.Asp1149Tyr) c.3427G>T (p.Asp1143Tyr) | |
| 22 | g.50721282A>C | CA515261651 | SHANK3 | c.3050A>C (p.Asp1017Ala) n.3634A>C c.2102A>C (p.Asp701Ala) c.1592A>C (p.Asp531Ala) c.*2048A>C (n.*2048A>C) c.3446A>C (p.Asp1149Ala) c.3428A>C (p.Asp1143Ala) | gnomAD v4 |
| 22 | g.50721282A>G | CA515261652 | SHANK3 | c.3050A>G (p.Asp1017Gly) n.3634A>G c.2102A>G (p.Asp701Gly) c.1592A>G (p.Asp531Gly) c.*2048A>G (n.*2048A>G) c.3446A>G (p.Asp1149Gly) c.3428A>G (p.Asp1143Gly) | |
| 22 | g.50721282A>T | CA515261653 | SHANK3 | c.3050A>T (p.Asp1017Val) n.3634A>T c.2102A>T (p.Asp701Val) c.1592A>T (p.Asp531Val) c.*2048A>T (n.*2048A>T) c.3446A>T (p.Asp1149Val) c.3428A>T (p.Asp1143Val) | |
| 22 | g.50721283C>A | CA515261655 | SHANK3 | c.3051C>A (p.Asp1017Glu) n.3635C>A c.2103C>A (p.Asp701Glu) c.1593C>A (p.Asp531Glu) c.*2049C>A (n.*2049C>A) c.3447C>A (p.Asp1149Glu) c.3429C>A (p.Asp1143Glu) | |
| 22 | g.50721283C= | CA2411008140 | SHANK3 | c.3051C= (p.Asp1017=) n.3635C= c.2103C= (p.Asp701=) c.1593C= (p.Asp531=) c.*2049C= (n.*2049C=) c.3447C= (p.Asp1149=) c.3429C= (p.Asp1143=) | |
| 22 | g.50721283C>G | CA515261656 | SHANK3 | c.3051C>G (p.Asp1017Glu) n.3635C>G c.2103C>G (p.Asp701Glu) c.1593C>G (p.Asp531Glu) c.*2049C>G (n.*2049C>G) c.3447C>G (p.Asp1149Glu) c.3429C>G (p.Asp1143Glu) | |
| 22 | g.50721283C>T | CA10326034 | SHANK3 | c.3051C>T (p.Asp1017=) n.3635C>T c.2103C>T (p.Asp701=) c.1593C>T (p.Asp531=) c.*2049C>T (n.*2049C>T) c.3447C>T (p.Asp1149=) c.3429C>T (p.Asp1143=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721284C>A | CA515261657 | SHANK3 | c.3052C>A (p.Pro1018Thr) n.3636C>A c.2104C>A (p.Pro702Thr) c.1594C>A (p.Pro532Thr) c.*2050C>A (n.*2050C>A) c.3448C>A (p.Pro1150Thr) c.3430C>A (p.Pro1144Thr) | gnomAD v4 |
| 22 | g.50721284C= | CA2411008141 | SHANK3 | c.3052C= (p.Pro1018=) n.3636C= c.2104C= (p.Pro702=) c.1594C= (p.Pro532=) c.*2050C= (n.*2050C=) c.3448C= (p.Pro1150=) c.3430C= (p.Pro1144=) | |
| 22 | g.50721284C>G | CA10326036 | SHANK3 | c.3052C>G (p.Pro1018Ala) n.3636C>G c.2104C>G (p.Pro702Ala) c.1594C>G (p.Pro532Ala) c.*2050C>G (n.*2050C>G) c.3448C>G (p.Pro1150Ala) c.3430C>G (p.Pro1144Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721284C>T | CA10326035 | SHANK3 | c.3052C>T (p.Pro1018Ser) n.3636C>T c.2104C>T (p.Pro702Ser) c.1594C>T (p.Pro532Ser) c.*2050C>T (n.*2050C>T) c.3448C>T (p.Pro1150Ser) c.3430C>T (p.Pro1144Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721285C>A | CA515261660 | SHANK3 | c.3053C>A (p.Pro1018Gln) n.3637C>A c.2105C>A (p.Pro702Gln) c.1595C>A (p.Pro532Gln) c.*2051C>A (n.*2051C>A) c.3449C>A (p.Pro1150Gln) c.3431C>A (p.Pro1144Gln) | |
| 22 | g.50721285C= | CA2411008142 | SHANK3 | c.3053C= (p.Pro1018=) n.3637C= c.2105C= (p.Pro702=) c.1595C= (p.Pro532=) c.*2051C= (n.*2051C=) c.3449C= (p.Pro1150=) c.3431C= (p.Pro1144=) | |
| 22 | g.50721285C>G | CA515261661 | SHANK3 | c.3053C>G (p.Pro1018Arg) n.3637C>G c.2105C>G (p.Pro702Arg) c.1595C>G (p.Pro532Arg) c.*2051C>G (n.*2051C>G) c.3449C>G (p.Pro1150Arg) c.3431C>G (p.Pro1144Arg) | |
| 22 | g.50721285C>T | CA515261663 | SHANK3 | c.3053C>T (p.Pro1018Leu) n.3637C>T c.2105C>T (p.Pro702Leu) c.1595C>T (p.Pro532Leu) c.*2051C>T (n.*2051C>T) c.3449C>T (p.Pro1150Leu) c.3431C>T (p.Pro1144Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721286A= | CA2411008143 | SHANK3 | c.3054A= (p.Pro1018=) n.3638A= c.2106A= (p.Pro702=) c.1596A= (p.Pro532=) c.*2052A= (n.*2052A=) c.3450A= (p.Pro1150=) c.3432A= (p.Pro1144=) | |
| 22 | g.50721286A>C | CA515261666 | SHANK3 | c.3054A>C (p.Pro1018=) n.3638A>C c.2106A>C (p.Pro702=) c.1596A>C (p.Pro532=) c.*2052A>C (n.*2052A>C) c.3450A>C (p.Pro1150=) c.3432A>C (p.Pro1144=) | |
| 22 | g.50721286A>G | CA515261664 | SHANK3 | c.3054A>G (p.Pro1018=) n.3638A>G c.2106A>G (p.Pro702=) c.1596A>G (p.Pro532=) c.*2052A>G (n.*2052A>G) c.3450A>G (p.Pro1150=) c.3432A>G (p.Pro1144=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721286A>T | CA515261665 | SHANK3 | c.3054A>T (p.Pro1018=) n.3638A>T c.2106A>T (p.Pro702=) c.1596A>T (p.Pro532=) c.*2052A>T (n.*2052A>T) c.3450A>T (p.Pro1150=) c.3432A>T (p.Pro1144=) | |
| 22 | g.50721287del | CA2579941915 | SHANK3 | c.3055del (p.Glu1019SerfsTer?) n.3639del c.2107del (p.Glu703SerfsTer?) c.1597del (p.Glu533SerfsTer?) c.*2053del (n.*2053del) c.3451del (p.Glu1151SerfsTer?) c.3433del (p.Glu1145SerfsTer?) | |
| 22 | g.50721287G>A | CA515261667 | SHANK3 | c.3055G>A (p.Glu1019Lys) n.3639G>A c.2107G>A (p.Glu703Lys) c.1597G>A (p.Glu533Lys) c.*2053G>A (n.*2053G>A) c.3451G>A (p.Glu1151Lys) c.3433G>A (p.Glu1145Lys) | |
| 22 | g.50721287G>C | CA515261676 | SHANK3 | c.3055G>C (p.Glu1019Gln) n.3639G>C c.2107G>C (p.Glu703Gln) c.1597G>C (p.Glu533Gln) c.*2053G>C (n.*2053G>C) c.3451G>C (p.Glu1151Gln) c.3433G>C (p.Glu1145Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721287G= | CA2411008144 | SHANK3 | c.3055G= (p.Glu1019=) n.3639G= c.2107G= (p.Glu703=) c.1597G= (p.Glu533=) c.*2053G= (n.*2053G=) c.3451G= (p.Glu1151=) c.3433G= (p.Glu1145=) | |
| 22 | g.50721287G>T | CA515261680 | SHANK3 | c.3055G>T (p.Glu1019Ter) n.3639G>T c.2107G>T (p.Glu703Ter) c.1597G>T (p.Glu533Ter) c.*2053G>T (n.*2053G>T) c.3451G>T (p.Glu1151Ter) c.3433G>T (p.Glu1145Ter) | |
| 22 | g.50721287dup | CA2580617639 | SHANK3 | c.3055dup (p.Glu1019GlyfsTer?) n.3639dup c.2107dup (p.Glu703GlyfsTer?) c.1597dup (p.Glu533GlyfsTer?) c.*2053dup (n.*2053dup) c.3451dup (p.Glu1151GlyfsTer?) c.3433dup (p.Glu1145GlyfsTer?) | ClinVar |
| 22 | g.50721288A>C | CA515261682 | SHANK3 | c.3056A>C (p.Glu1019Ala) n.3640A>C c.2108A>C (p.Glu703Ala) c.1598A>C (p.Glu533Ala) c.*2054A>C (n.*2054A>C) c.3452A>C (p.Glu1151Ala) c.3434A>C (p.Glu1145Ala) | |
| 22 | g.50721288A>G | CA515261683 | SHANK3 | c.3056A>G (p.Glu1019Gly) n.3640A>G c.2108A>G (p.Glu703Gly) c.1598A>G (p.Glu533Gly) c.*2054A>G (n.*2054A>G) c.3452A>G (p.Glu1151Gly) c.3434A>G (p.Glu1145Gly) | |
| 22 | g.50721288A>T | CA515261684 | SHANK3 | c.3056A>T (p.Glu1019Val) n.3640A>T c.2108A>T (p.Glu703Val) c.1598A>T (p.Glu533Val) c.*2054A>T (n.*2054A>T) c.3452A>T (p.Glu1151Val) c.3434A>T (p.Glu1145Val) | |
| 22 | g.50721289del | CA923726219 | SHANK3 | c.3057del (p.Glu1019AspfsTer?) n.3641del c.2109del (p.Glu703AspfsTer?) c.1599del (p.Glu533AspfsTer?) c.*2055del (n.*2055del) c.3453del (p.Glu1151AspfsTer?) c.3435del (p.Glu1145AspfsTer?) | |
| 22 | g.50721289G>A | CA10326037 | SHANK3 | c.3057G>A (p.Glu1019=) n.3641G>A c.2109G>A (p.Glu703=) c.1599G>A (p.Glu533=) c.*2055G>A (n.*2055G>A) c.3453G>A (p.Glu1151=) c.3435G>A (p.Glu1145=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721289G>C | CA325578949 | SHANK3 | c.3057G>C (p.Glu1019Asp) n.3641G>C c.2109G>C (p.Glu703Asp) c.1599G>C (p.Glu533Asp) c.*2055G>C (n.*2055G>C) c.3453G>C (p.Glu1151Asp) c.3435G>C (p.Glu1145Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721289G= | CA2411008145 | SHANK3 | c.3057G= (p.Glu1019=) n.3641G= c.2109G= (p.Glu703=) c.1599G= (p.Glu533=) c.*2055G= (n.*2055G=) c.3453G= (p.Glu1151=) c.3435G= (p.Glu1145=) | |
| 22 | g.50721289G>T | CA515261685 | SHANK3 | c.3057G>T (p.Glu1019Asp) n.3641G>T c.2109G>T (p.Glu703Asp) c.1599G>T (p.Glu533Asp) c.*2055G>T (n.*2055G>T) c.3453G>T (p.Glu1151Asp) c.3435G>T (p.Glu1145Asp) | dbSNP gnomAD v2 |
| 22 | g.50721290C>A | CA515261689 | SHANK3 | c.3058C>A (p.Arg1020=) n.3642C>A c.2110C>A (p.Arg704=) c.1600C>A (p.Arg534=) c.*2056C>A (n.*2056C>A) c.3454C>A (p.Arg1152=) c.3436C>A (p.Arg1146=) | |
| 22 | g.50721290C>G | CA515261690 | SHANK3 | c.3058C>G (p.Arg1020Gly) n.3642C>G c.2110C>G (p.Arg704Gly) c.1600C>G (p.Arg534Gly) c.*2056C>G (n.*2056C>G) c.3454C>G (p.Arg1152Gly) c.3436C>G (p.Arg1146Gly) | |
| 22 | g.50721290C>T | CA515261691 | SHANK3 | c.3058C>T (p.Arg1020Ter) n.3642C>T c.2110C>T (p.Arg704Ter) c.1600C>T (p.Arg534Ter) c.*2056C>T (n.*2056C>T) c.3454C>T (p.Arg1152Ter) c.3436C>T (p.Arg1146Ter) | |
| 22 | g.50721291G>A | CA325578954 | SHANK3 | c.3059G>A (p.Arg1020Gln) n.3643G>A c.2111G>A (p.Arg704Gln) c.1601G>A (p.Arg534Gln) c.*2057G>A (n.*2057G>A) c.3455G>A (p.Arg1152Gln) c.3437G>A (p.Arg1146Gln) | dbSNP |
| 22 | g.50721291G>C | CA515261692 | SHANK3 | c.3059G>C (p.Arg1020Pro) n.3643G>C c.2111G>C (p.Arg704Pro) c.1601G>C (p.Arg534Pro) c.*2057G>C (n.*2057G>C) c.3455G>C (p.Arg1152Pro) c.3437G>C (p.Arg1146Pro) | |
| 22 | g.50721291G= | CA2411008146 | SHANK3 | c.3059G= (p.Arg1020=) n.3643G= c.2111G= (p.Arg704=) c.1601G= (p.Arg534=) c.*2057G= (n.*2057G=) c.3455G= (p.Arg1152=) c.3437G= (p.Arg1146=) | |
| 22 | g.50721291G>T | CA515261693 | SHANK3 | c.3059G>T (p.Arg1020Leu) n.3643G>T c.2111G>T (p.Arg704Leu) c.1601G>T (p.Arg534Leu) c.*2057G>T (n.*2057G>T) c.3455G>T (p.Arg1152Leu) c.3437G>T (p.Arg1146Leu) | |
| 22 | g.50721292A= | CA2411008147 | SHANK3 | c.3060A= (p.Arg1020=) n.3644A= c.2112A= (p.Arg704=) c.1602A= (p.Arg534=) c.*2058A= (n.*2058A=) c.3456A= (p.Arg1152=) c.3438A= (p.Arg1146=) | |
| 22 | g.50721292A>C | CA515261694 | SHANK3 | c.3060A>C (p.Arg1020=) n.3644A>C c.2112A>C (p.Arg704=) c.1602A>C (p.Arg534=) c.*2058A>C (n.*2058A>C) c.3456A>C (p.Arg1152=) c.3438A>C (p.Arg1146=) | |
| 22 | g.50721292A>G | CA515261695 | SHANK3 | c.3060A>G (p.Arg1020=) n.3644A>G c.2112A>G (p.Arg704=) c.1602A>G (p.Arg534=) c.*2058A>G (n.*2058A>G) c.3456A>G (p.Arg1152=) c.3438A>G (p.Arg1146=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721292A>T | CA515261696 | SHANK3 | c.3060A>T (p.Arg1020=) n.3644A>T c.2112A>T (p.Arg704=) c.1602A>T (p.Arg534=) c.*2058A>T (n.*2058A>T) c.3456A>T (p.Arg1152=) c.3438A>T (p.Arg1146=) | |
| 22 | g.50721293G>A | CA10326038 | SHANK3 | c.3061G>A (p.Gly1021Arg) n.3645G>A c.2113G>A (p.Gly705Arg) c.1603G>A (p.Gly535Arg) c.*2059G>A (n.*2059G>A) c.3457G>A (p.Gly1153Arg) c.3439G>A (p.Gly1147Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721293G>C | CA515261699 | SHANK3 | c.3061G>C (p.Gly1021Arg) n.3645G>C c.2113G>C (p.Gly705Arg) c.1603G>C (p.Gly535Arg) c.*2059G>C (n.*2059G>C) c.3457G>C (p.Gly1153Arg) c.3439G>C (p.Gly1147Arg) | dbSNP gnomAD v4 |
| 22 | g.50721293G= | CA2411008148 | SHANK3 | c.3061G= (p.Gly1021=) n.3645G= c.2113G= (p.Gly705=) c.1603G= (p.Gly535=) c.*2059G= (n.*2059G=) c.3457G= (p.Gly1153=) c.3439G= (p.Gly1147=) | |
| 22 | g.50721293G>T | CA515261701 | SHANK3 | c.3061G>T (p.Gly1021Trp) n.3645G>T c.2113G>T (p.Gly705Trp) c.1603G>T (p.Gly535Trp) c.*2059G>T (n.*2059G>T) c.3457G>T (p.Gly1153Trp) c.3439G>T (p.Gly1147Trp) | |
| 22 | g.50721294_50721295del | CA2579941916 | SHANK3 | c.3062_3063del (p.Gly1021ValfsTer?) n.3646_3647del c.2114_2115del (p.Gly705ValfsTer?) c.1604_1605del (p.Gly535ValfsTer?) c.*2060_*2061del (n.*2060_*2061del) c.3458_3459del (p.Gly1153ValfsTer?) c.3440_3441del (p.Gly1147ValfsTer?) | |
| 22 | g.50721294G>A | CA515261702 | SHANK3 | c.3062G>A (p.Gly1021Glu) n.3646G>A c.2114G>A (p.Gly705Glu) c.1604G>A (p.Gly535Glu) c.*2060G>A (n.*2060G>A) c.3458G>A (p.Gly1153Glu) c.3440G>A (p.Gly1147Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721294G>C | CA515261705 | SHANK3 | c.3062G>C (p.Gly1021Ala) n.3646G>C c.2114G>C (p.Gly705Ala) c.1604G>C (p.Gly535Ala) c.*2060G>C (n.*2060G>C) c.3458G>C (p.Gly1153Ala) c.3440G>C (p.Gly1147Ala) | dbSNP |
| 22 | g.50721294G= | CA2411008149 | SHANK3 | c.3062G= (p.Gly1021=) n.3646G= c.2114G= (p.Gly705=) c.1604G= (p.Gly535=) c.*2060G= (n.*2060G=) c.3458G= (p.Gly1153=) c.3440G= (p.Gly1147=) | |
| 22 | g.50721294G>T | CA515261704 | SHANK3 | c.3062G>T (p.Gly1021Val) n.3646G>T c.2114G>T (p.Gly705Val) c.1604G>T (p.Gly535Val) c.*2060G>T (n.*2060G>T) c.3458G>T (p.Gly1153Val) c.3440G>T (p.Gly1147Val) | |
| 22 | g.50721295G>A | CA515261706 | SHANK3 | c.3063G>A (p.Gly1021=) n.3647G>A c.2115G>A (p.Gly705=) c.1605G>A (p.Gly535=) c.*2061G>A (n.*2061G>A) c.3459G>A (p.Gly1153=) c.3441G>A (p.Gly1147=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721295G>C | CA515261707 | SHANK3 | c.3063G>C (p.Gly1021=) n.3647G>C c.2115G>C (p.Gly705=) c.1605G>C (p.Gly535=) c.*2061G>C (n.*2061G>C) c.3459G>C (p.Gly1153=) c.3441G>C (p.Gly1147=) | |
| 22 | g.50721295G= | CA2411008150 | SHANK3 | c.3063G= (p.Gly1021=) n.3647G= c.2115G= (p.Gly705=) c.1605G= (p.Gly535=) c.*2061G= (n.*2061G=) c.3459G= (p.Gly1153=) c.3441G= (p.Gly1147=) | |
| 22 | g.50721295G>T | CA515261708 | SHANK3 | c.3063G>T (p.Gly1021=) n.3647G>T c.2115G>T (p.Gly705=) c.1605G>T (p.Gly535=) c.*2061G>T (n.*2061G>T) c.3459G>T (p.Gly1153=) c.3441G>T (p.Gly1147=) | gnomAD v4 |
| 22 | g.50721296T>A | CA10326039 | SHANK3 | c.3064T>A (p.Ser1022Thr) n.3648T>A c.2116T>A (p.Ser706Thr) c.1606T>A (p.Ser536Thr) c.*2062T>A (n.*2062T>A) c.3460T>A (p.Ser1154Thr) c.3442T>A (p.Ser1148Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721296T>C | CA515261709 | SHANK3 | c.3064T>C (p.Ser1022Pro) n.3648T>C c.2116T>C (p.Ser706Pro) c.1606T>C (p.Ser536Pro) c.*2062T>C (n.*2062T>C) c.3460T>C (p.Ser1154Pro) c.3442T>C (p.Ser1148Pro) | |
| 22 | g.50721296T>G | CA515261711 | SHANK3 | c.3064T>G (p.Ser1022Ala) n.3648T>G c.2116T>G (p.Ser706Ala) c.1606T>G (p.Ser536Ala) c.*2062T>G (n.*2062T>G) c.3460T>G (p.Ser1154Ala) c.3442T>G (p.Ser1148Ala) | |
| 22 | g.50721296T= | CA2411008151 | SHANK3 | c.3064T= (p.Ser1022=) n.3648T= c.2116T= (p.Ser706=) c.1606T= (p.Ser536=) c.*2062T= (n.*2062T=) c.3460T= (p.Ser1154=) c.3442T= (p.Ser1148=) | |
| 22 | g.50721300_50721308dup | CA1026672344 | SHANK3 | c.3068_3076dup (p.Ser1025_Pro1026insLeuAlaSer) n.3652_3660dup c.2120_2128dup (p.Ser709_Pro710insLeuAlaSer) c.1610_1618dup (p.Ser539_Pro540insLeuAlaSer) c.*2066_*2074dup (n.*2066_*2074dup) c.3464_3472dup (p.Ser1157_Pro1158insLeuAlaSer) c.3446_3454dup (p.Ser1151_Pro1152insLeuAlaSer) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721297C>A | CA515261712 | SHANK3 | c.3065C>A (p.Ser1022Tyr) n.3649C>A c.2117C>A (p.Ser706Tyr) c.1607C>A (p.Ser536Tyr) c.*2063C>A (n.*2063C>A) c.3461C>A (p.Ser1154Tyr) c.3443C>A (p.Ser1148Tyr) | dbSNP gnomAD v4 |
| 22 | g.50721297C= | CA2411008152 | SHANK3 | c.3065C= (p.Ser1022=) n.3649C= c.2117C= (p.Ser706=) c.1607C= (p.Ser536=) c.*2063C= (n.*2063C=) c.3461C= (p.Ser1154=) c.3443C= (p.Ser1148=) | |
| 22 | g.50721297C>G | CA515261713 | SHANK3 | c.3065C>G (p.Ser1022Cys) n.3649C>G c.2117C>G (p.Ser706Cys) c.1607C>G (p.Ser536Cys) c.*2063C>G (n.*2063C>G) c.3461C>G (p.Ser1154Cys) c.3443C>G (p.Ser1148Cys) | ClinVar gnomAD v4 |
| 22 | g.50721297C>T | CA515261717 | SHANK3 | c.3065C>T (p.Ser1022Phe) n.3649C>T c.2117C>T (p.Ser706Phe) c.1607C>T (p.Ser536Phe) c.*2063C>T (n.*2063C>T) c.3461C>T (p.Ser1154Phe) c.3443C>T (p.Ser1148Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721298C>A | CA515261720 | SHANK3 | c.3066C>A (p.Ser1022=) n.3650C>A c.2118C>A (p.Ser706=) c.1608C>A (p.Ser536=) c.*2064C>A (n.*2064C>A) c.3462C>A (p.Ser1154=) c.3444C>A (p.Ser1148=) | |
| 22 | g.50721298C= | CA2411008153 | SHANK3 | c.3066C= (p.Ser1022=) n.3650C= c.2118C= (p.Ser706=) c.1608C= (p.Ser536=) c.*2064C= (n.*2064C=) c.3462C= (p.Ser1154=) c.3444C= (p.Ser1148=) | |
| 22 | g.50721298C>G | CA515261722 | SHANK3 | c.3066C>G (p.Ser1022=) n.3650C>G c.2118C>G (p.Ser706=) c.1608C>G (p.Ser536=) c.*2064C>G (n.*2064C>G) c.3462C>G (p.Ser1154=) c.3444C>G (p.Ser1148=) | |
| 22 | g.50721298C>T | CA10326040 | SHANK3 | c.3066C>T (p.Ser1022=) n.3650C>T c.2118C>T (p.Ser706=) c.1608C>T (p.Ser536=) c.*2064C>T (n.*2064C>T) c.3462C>T (p.Ser1154=) c.3444C>T (p.Ser1148=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721299C>A | CA515261724 | SHANK3 | c.3067C>A (p.Leu1023Met) n.3651C>A c.2119C>A (p.Leu707Met) c.1609C>A (p.Leu537Met) c.*2065C>A (n.*2065C>A) c.3463C>A (p.Leu1155Met) c.3445C>A (p.Leu1149Met) | |
| 22 | g.50721299C= | CA2411008154 | SHANK3 | c.3067C= (p.Leu1023=) n.3651C= c.2119C= (p.Leu707=) c.1609C= (p.Leu537=) c.*2065C= (n.*2065C=) c.3463C= (p.Leu1155=) c.3445C= (p.Leu1149=) | |
| 22 | g.50721299C>G | CA515261723 | SHANK3 | c.3067C>G (p.Leu1023Val) n.3651C>G c.2119C>G (p.Leu707Val) c.1609C>G (p.Leu537Val) c.*2065C>G (n.*2065C>G) c.3463C>G (p.Leu1155Val) c.3445C>G (p.Leu1149Val) | |
| 22 | g.50721299C>T | CA10326041 | SHANK3 | c.3067C>T (p.Leu1023=) n.3651C>T c.2119C>T (p.Leu707=) c.1609C>T (p.Leu537=) c.*2065C>T (n.*2065C>T) c.3463C>T (p.Leu1155=) c.3445C>T (p.Leu1149=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721300T>A | CA515261725 | SHANK3 | c.3068T>A (p.Leu1023Gln) n.3652T>A c.2120T>A (p.Leu707Gln) c.1610T>A (p.Leu537Gln) c.*2066T>A (n.*2066T>A) c.3464T>A (p.Leu1155Gln) c.3446T>A (p.Leu1149Gln) | gnomAD v4 |
| 22 | g.50721300T>C | CA515261726 | SHANK3 | c.3068T>C (p.Leu1023Pro) n.3652T>C c.2120T>C (p.Leu707Pro) c.1610T>C (p.Leu537Pro) c.*2066T>C (n.*2066T>C) c.3464T>C (p.Leu1155Pro) c.3446T>C (p.Leu1149Pro) | |
| 22 | g.50721300T>G | CA515261729 | SHANK3 | c.3068T>G (p.Leu1023Arg) n.3652T>G c.2120T>G (p.Leu707Arg) c.1610T>G (p.Leu537Arg) c.*2066T>G (n.*2066T>G) c.3464T>G (p.Leu1155Arg) c.3446T>G (p.Leu1149Arg) | |
| 22 | g.50721301G>A | CA515261731 | SHANK3 | c.3069G>A (p.Leu1023=) n.3653G>A c.2121G>A (p.Leu707=) c.1611G>A (p.Leu537=) c.*2067G>A (n.*2067G>A) c.3465G>A (p.Leu1155=) c.3447G>A (p.Leu1149=) | |
| 22 | g.50721301G>C | CA515261732 | SHANK3 | c.3069G>C (p.Leu1023=) n.3653G>C c.2121G>C (p.Leu707=) c.1611G>C (p.Leu537=) c.*2067G>C (n.*2067G>C) c.3465G>C (p.Leu1155=) c.3447G>C (p.Leu1149=) | |
| 22 | g.50721301G>T | CA515261733 | SHANK3 | c.3069G>T (p.Leu1023=) n.3653G>T c.2121G>T (p.Leu707=) c.1611G>T (p.Leu537=) c.*2067G>T (n.*2067G>T) c.3465G>T (p.Leu1155=) c.3447G>T (p.Leu1149=) | |
| 22 | g.50721302G>A | CA515261735 | SHANK3 | c.3070G>A (p.Ala1024Thr) n.3654G>A c.2122G>A (p.Ala708Thr) c.1612G>A (p.Ala538Thr) c.*2068G>A (n.*2068G>A) c.3466G>A (p.Ala1156Thr) c.3448G>A (p.Ala1150Thr) | dbSNP |
| 22 | g.50721302G>C | CA515261737 | SHANK3 | c.3070G>C (p.Ala1024Pro) n.3654G>C c.2122G>C (p.Ala708Pro) c.1612G>C (p.Ala538Pro) c.*2068G>C (n.*2068G>C) c.3466G>C (p.Ala1156Pro) c.3448G>C (p.Ala1150Pro) | |
| 22 | g.50721302G= | CA2411008155 | SHANK3 | c.3070G= (p.Ala1024=) n.3654G= c.2122G= (p.Ala708=) c.1612G= (p.Ala538=) c.*2068G= (n.*2068G=) c.3466G= (p.Ala1156=) c.3448G= (p.Ala1150=) | |
| 22 | g.50721302G>T | CA515261738 | SHANK3 | c.3070G>T (p.Ala1024Ser) n.3654G>T c.2122G>T (p.Ala708Ser) c.1612G>T (p.Ala538Ser) c.*2068G>T (n.*2068G>T) c.3466G>T (p.Ala1156Ser) c.3448G>T (p.Ala1150Ser) | |
| 22 | g.50721303C>A | CA515261739 | SHANK3 | c.3071C>A (p.Ala1024Asp) n.3655C>A c.2123C>A (p.Ala708Asp) c.1613C>A (p.Ala538Asp) c.*2069C>A (n.*2069C>A) c.3467C>A (p.Ala1156Asp) c.3449C>A (p.Ala1150Asp) | gnomAD v4 |
| 22 | g.50721303C= | CA2411008156 | SHANK3 | c.3071C= (p.Ala1024=) n.3655C= c.2123C= (p.Ala708=) c.1613C= (p.Ala538=) c.*2069C= (n.*2069C=) c.3467C= (p.Ala1156=) c.3449C= (p.Ala1150=) | |
| 22 | g.50721303C>G | CA515261740 | SHANK3 | c.3071C>G (p.Ala1024Gly) n.3655C>G c.2123C>G (p.Ala708Gly) c.1613C>G (p.Ala538Gly) c.*2069C>G (n.*2069C>G) c.3467C>G (p.Ala1156Gly) c.3449C>G (p.Ala1150Gly) | |
| 22 | g.50721303C>T | CA10326042 | SHANK3 | c.3071C>T (p.Ala1024Val) n.3655C>T c.2123C>T (p.Ala708Val) c.1613C>T (p.Ala538Val) c.*2069C>T (n.*2069C>T) c.3467C>T (p.Ala1156Val) c.3449C>T (p.Ala1150Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721304T>A | CA515261745 | SHANK3 | c.3072T>A (p.Ala1024=) n.3656T>A c.2124T>A (p.Ala708=) c.1614T>A (p.Ala538=) c.*2070T>A (n.*2070T>A) c.3468T>A (p.Ala1156=) c.3450T>A (p.Ala1150=) | |
| 22 | g.50721304T>C | CA515261744 | SHANK3 | c.3072T>C (p.Ala1024=) n.3656T>C c.2124T>C (p.Ala708=) c.1614T>C (p.Ala538=) c.*2070T>C (n.*2070T>C) c.3468T>C (p.Ala1156=) c.3450T>C (p.Ala1150=) | |
| 22 | g.50721304T>G | CA515261743 | SHANK3 | c.3072T>G (p.Ala1024=) n.3656T>G c.2124T>G (p.Ala708=) c.1614T>G (p.Ala538=) c.*2070T>G (n.*2070T>G) c.3468T>G (p.Ala1156=) c.3450T>G (p.Ala1150=) | |
| 22 | g.50721305T>A | CA515261746 | SHANK3 | c.3073T>A (p.Ser1025Thr) n.3657T>A c.2125T>A (p.Ser709Thr) c.1615T>A (p.Ser539Thr) c.*2071T>A (n.*2071T>A) c.3469T>A (p.Ser1157Thr) c.3451T>A (p.Ser1151Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721305T>C | CA515261748 | SHANK3 | c.3073T>C (p.Ser1025Pro) n.3657T>C c.2125T>C (p.Ser709Pro) c.1615T>C (p.Ser539Pro) c.*2071T>C (n.*2071T>C) c.3469T>C (p.Ser1157Pro) c.3451T>C (p.Ser1151Pro) | |
| 22 | g.50721305T>G | CA515261747 | SHANK3 | c.3073T>G (p.Ser1025Ala) n.3657T>G c.2125T>G (p.Ser709Ala) c.1615T>G (p.Ser539Ala) c.*2071T>G (n.*2071T>G) c.3469T>G (p.Ser1157Ala) c.3451T>G (p.Ser1151Ala) | |
| 22 | g.50721305T= | CA2411008157 | SHANK3 | c.3073T= (p.Ser1025=) n.3657T= c.2125T= (p.Ser709=) c.1615T= (p.Ser539=) c.*2071T= (n.*2071T=) c.3469T= (p.Ser1157=) c.3451T= (p.Ser1151=) | |
| 22 | g.50721306C>A | CA515261749 | SHANK3 | c.3074C>A (p.Ser1025Tyr) n.3658C>A c.2126C>A (p.Ser709Tyr) c.1616C>A (p.Ser539Tyr) c.*2072C>A (n.*2072C>A) c.3470C>A (p.Ser1157Tyr) c.3452C>A (p.Ser1151Tyr) | |
| 22 | g.50721306C= | CA2411008158 | SHANK3 | c.3074C= (p.Ser1025=) n.3658C= c.2126C= (p.Ser709=) c.1616C= (p.Ser539=) c.*2072C= (n.*2072C=) c.3470C= (p.Ser1157=) c.3452C= (p.Ser1151=) | |
| 22 | g.50721306C>G | CA515261753 | SHANK3 | c.3074C>G (p.Ser1025Cys) n.3658C>G c.2126C>G (p.Ser709Cys) c.1616C>G (p.Ser539Cys) c.*2072C>G (n.*2072C>G) c.3470C>G (p.Ser1157Cys) c.3452C>G (p.Ser1151Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721306C>T | CA515261751 | SHANK3 | c.3074C>T (p.Ser1025Phe) n.3658C>T c.2126C>T (p.Ser709Phe) c.1616C>T (p.Ser539Phe) c.*2072C>T (n.*2072C>T) c.3470C>T (p.Ser1157Phe) c.3452C>T (p.Ser1151Phe) | gnomAD v4 |
| 22 | g.50721307C>A | CA515261755 | SHANK3 | c.3075C>A (p.Ser1025=) n.3659C>A c.2127C>A (p.Ser709=) c.1617C>A (p.Ser539=) c.*2073C>A (n.*2073C>A) c.3471C>A (p.Ser1157=) c.3453C>A (p.Ser1151=) | |
| 22 | g.50721307C= | CA2411008159 | SHANK3 | c.3075C= (p.Ser1025=) n.3659C= c.2127C= (p.Ser709=) c.1617C= (p.Ser539=) c.*2073C= (n.*2073C=) c.3471C= (p.Ser1157=) c.3453C= (p.Ser1151=) | |
| 22 | g.50721307C>G | CA10326043 | SHANK3 | c.3075C>G (p.Ser1025=) n.3659C>G c.2127C>G (p.Ser709=) c.1617C>G (p.Ser539=) c.*2073C>G (n.*2073C>G) c.3471C>G (p.Ser1157=) c.3453C>G (p.Ser1151=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721307C>T | CA515261756 | SHANK3 | c.3075C>T (p.Ser1025=) n.3659C>T c.2127C>T (p.Ser709=) c.1617C>T (p.Ser539=) c.*2073C>T (n.*2073C>T) c.3471C>T (p.Ser1157=) c.3453C>T (p.Ser1151=) | |
| 22 | g.50721308C>A | CA515261757 | SHANK3 | c.3076C>A (p.Pro1026Thr) n.3660C>A c.2128C>A (p.Pro710Thr) c.1618C>A (p.Pro540Thr) c.*2074C>A (n.*2074C>A) c.3472C>A (p.Pro1158Thr) c.3454C>A (p.Pro1152Thr) | |
| 22 | g.50721308C>G | CA515261758 | SHANK3 | c.3076C>G (p.Pro1026Ala) n.3660C>G c.2128C>G (p.Pro710Ala) c.1618C>G (p.Pro540Ala) c.*2074C>G (n.*2074C>G) c.3472C>G (p.Pro1158Ala) c.3454C>G (p.Pro1152Ala) | |
| 22 | g.50721308C>T | CA515261760 | SHANK3 | c.3076C>T (p.Pro1026Ser) n.3660C>T c.2128C>T (p.Pro710Ser) c.1618C>T (p.Pro540Ser) c.*2074C>T (n.*2074C>T) c.3472C>T (p.Pro1158Ser) c.3454C>T (p.Pro1152Ser) | |
| 22 | g.50721309C>A | CA515261763 | SHANK3 | c.3077C>A (p.Pro1026Gln) n.3661C>A c.2129C>A (p.Pro710Gln) c.1619C>A (p.Pro540Gln) c.*2075C>A (n.*2075C>A) c.3473C>A (p.Pro1158Gln) c.3455C>A (p.Pro1152Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721309C= | CA2411008160 | SHANK3 | c.3077C= (p.Pro1026=) n.3661C= c.2129C= (p.Pro710=) c.1619C= (p.Pro540=) c.*2075C= (n.*2075C=) c.3473C= (p.Pro1158=) c.3455C= (p.Pro1152=) | |
| 22 | g.50721309C>G | CA515261762 | SHANK3 | c.3077C>G (p.Pro1026Arg) n.3661C>G c.2129C>G (p.Pro710Arg) c.1619C>G (p.Pro540Arg) c.*2075C>G (n.*2075C>G) c.3473C>G (p.Pro1158Arg) c.3455C>G (p.Pro1152Arg) | |
| 22 | g.50721309C>T | CA515261761 | SHANK3 | c.3077C>T (p.Pro1026Leu) n.3661C>T c.2129C>T (p.Pro710Leu) c.1619C>T (p.Pro540Leu) c.*2075C>T (n.*2075C>T) c.3473C>T (p.Pro1158Leu) c.3455C>T (p.Pro1152Leu) | dbSNP gnomAD v4 COSMIC COSMIC |
| 22 | g.50721310G>A | CA10326044 | SHANK3 | c.3078G>A (p.Pro1026=) n.3662G>A c.2130G>A (p.Pro710=) c.1620G>A (p.Pro540=) c.*2076G>A (n.*2076G>A) c.3474G>A (p.Pro1158=) c.3456G>A (p.Pro1152=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721310G>C | CA515261764 | SHANK3 | c.3078G>C (p.Pro1026=) n.3662G>C c.2130G>C (p.Pro710=) c.1620G>C (p.Pro540=) c.*2076G>C (n.*2076G>C) c.3474G>C (p.Pro1158=) c.3456G>C (p.Pro1152=) | |
| 22 | g.50721310G= | CA2411008161 | SHANK3 | c.3078G= (p.Pro1026=) n.3662G= c.2130G= (p.Pro710=) c.1620G= (p.Pro540=) c.*2076G= (n.*2076G=) c.3474G= (p.Pro1158=) c.3456G= (p.Pro1152=) | |
| 22 | g.50721310G>T | CA515261766 | SHANK3 | c.3078G>T (p.Pro1026=) n.3662G>T c.2130G>T (p.Pro710=) c.1620G>T (p.Pro540=) c.*2076G>T (n.*2076G>T) c.3474G>T (p.Pro1158=) c.3456G>T (p.Pro1152=) | |
| 22 | g.50721311G>A | CA515261768 | SHANK3 | c.3079G>A (p.Ala1027Thr) n.3663G>A c.2131G>A (p.Ala711Thr) c.1621G>A (p.Ala541Thr) c.*2077G>A (n.*2077G>A) c.3475G>A (p.Ala1159Thr) c.3457G>A (p.Ala1153Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721311G>C | CA515261771 | SHANK3 | c.3079G>C (p.Ala1027Pro) n.3663G>C c.2131G>C (p.Ala711Pro) c.1621G>C (p.Ala541Pro) c.*2077G>C (n.*2077G>C) c.3475G>C (p.Ala1159Pro) c.3457G>C (p.Ala1153Pro) | |
| 22 | g.50721311G= | CA2411008162 | SHANK3 | c.3079G= (p.Ala1027=) n.3663G= c.2131G= (p.Ala711=) c.1621G= (p.Ala541=) c.*2077G= (n.*2077G=) c.3475G= (p.Ala1159=) c.3457G= (p.Ala1153=) | |
| 22 | g.50721311G>T | CA515261774 | SHANK3 | c.3079G>T (p.Ala1027Ser) n.3663G>T c.2131G>T (p.Ala711Ser) c.1621G>T (p.Ala541Ser) c.*2077G>T (n.*2077G>T) c.3475G>T (p.Ala1159Ser) c.3457G>T (p.Ala1153Ser) | COSMIC COSMIC COSMIC |
| 22 | g.50721312C>A | CA515261775 | SHANK3 | c.3080C>A (p.Ala1027Asp) n.3664C>A c.2132C>A (p.Ala711Asp) c.1622C>A (p.Ala541Asp) c.*2078C>A (n.*2078C>A) c.3476C>A (p.Ala1159Asp) c.3458C>A (p.Ala1153Asp) | |
| 22 | g.50721312C= | CA2411008163 | SHANK3 | c.3080C= (p.Ala1027=) n.3664C= c.2132C= (p.Ala711=) c.1622C= (p.Ala541=) c.*2078C= (n.*2078C=) c.3476C= (p.Ala1159=) c.3458C= (p.Ala1153=) | |
| 22 | g.50721312C>G | CA515261777 | SHANK3 | c.3080C>G (p.Ala1027Gly) n.3664C>G c.2132C>G (p.Ala711Gly) c.1622C>G (p.Ala541Gly) c.*2078C>G (n.*2078C>G) c.3476C>G (p.Ala1159Gly) c.3458C>G (p.Ala1153Gly) | |
| 22 | g.50721312C>T | CA515261776 | SHANK3 | c.3080C>T (p.Ala1027Val) n.3664C>T c.2132C>T (p.Ala711Val) c.1622C>T (p.Ala541Val) c.*2078C>T (n.*2078C>T) c.3476C>T (p.Ala1159Val) c.3458C>T (p.Ala1153Val) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721313T>A | CA515261778 | SHANK3 | c.3081T>A (p.Ala1027=) n.3665T>A c.2133T>A (p.Ala711=) c.1623T>A (p.Ala541=) c.*2079T>A (n.*2079T>A) c.3477T>A (p.Ala1159=) c.3459T>A (p.Ala1153=) | |
| 22 | g.50721313T>C | CA10326045 | SHANK3 | c.3081T>C (p.Ala1027=) n.3665T>C c.2133T>C (p.Ala711=) c.1623T>C (p.Ala541=) c.*2079T>C (n.*2079T>C) c.3477T>C (p.Ala1159=) c.3459T>C (p.Ala1153=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721313T>G | CA515261780 | SHANK3 | c.3081T>G (p.Ala1027=) n.3665T>G c.2133T>G (p.Ala711=) c.1623T>G (p.Ala541=) c.*2079T>G (n.*2079T>G) c.3477T>G (p.Ala1159=) c.3459T>G (p.Ala1153=) | |
| 22 | g.50721313T= | CA2411008164 | SHANK3 | c.3081T= (p.Ala1027=) n.3665T= c.2133T= (p.Ala711=) c.1623T= (p.Ala541=) c.*2079T= (n.*2079T=) c.3477T= (p.Ala1159=) c.3459T= (p.Ala1153=) | |
| 22 | g.50721314T>A | CA515261781 | SHANK3 | c.3082T>A (p.Phe1028Ile) n.3666T>A c.2134T>A (p.Phe712Ile) c.1624T>A (p.Phe542Ile) c.*2080T>A (n.*2080T>A) c.3478T>A (p.Phe1160Ile) c.3460T>A (p.Phe1154Ile) | |
| 22 | g.50721314T>C | CA515261782 | SHANK3 | c.3082T>C (p.Phe1028Leu) n.3666T>C c.2134T>C (p.Phe712Leu) c.1624T>C (p.Phe542Leu) c.*2080T>C (n.*2080T>C) c.3478T>C (p.Phe1160Leu) c.3460T>C (p.Phe1154Leu) | |
| 22 | g.50721314T>G | CA515261783 | SHANK3 | c.3082T>G (p.Phe1028Val) n.3666T>G c.2134T>G (p.Phe712Val) c.1624T>G (p.Phe542Val) c.*2080T>G (n.*2080T>G) c.3478T>G (p.Phe1160Val) c.3460T>G (p.Phe1154Val) | |
| 22 | g.50721315T>A | CA515261786 | SHANK3 | c.3083T>A (p.Phe1028Tyr) n.3667T>A c.2135T>A (p.Phe712Tyr) c.1625T>A (p.Phe542Tyr) c.*2081T>A (n.*2081T>A) c.3479T>A (p.Phe1160Tyr) c.3461T>A (p.Phe1154Tyr) | |
| 22 | g.50721315T>C | CA515261789 | SHANK3 | c.3083T>C (p.Phe1028Ser) n.3667T>C c.2135T>C (p.Phe712Ser) c.1625T>C (p.Phe542Ser) c.*2081T>C (n.*2081T>C) c.3479T>C (p.Phe1160Ser) c.3461T>C (p.Phe1154Ser) | |
| 22 | g.50721315T>G | CA515261791 | SHANK3 | c.3083T>G (p.Phe1028Cys) n.3667T>G c.2135T>G (p.Phe712Cys) c.1625T>G (p.Phe542Cys) c.*2081T>G (n.*2081T>G) c.3479T>G (p.Phe1160Cys) c.3461T>G (p.Phe1154Cys) | |
| 22 | g.50721316C>A | CA515261792 | SHANK3 | c.3084C>A (p.Phe1028Leu) n.3668C>A c.2136C>A (p.Phe712Leu) c.1626C>A (p.Phe542Leu) c.*2082C>A (n.*2082C>A) c.3480C>A (p.Phe1160Leu) c.3462C>A (p.Phe1154Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721316C= | CA2411008165 | SHANK3 | c.3084C= (p.Phe1028=) n.3668C= c.2136C= (p.Phe712=) c.1626C= (p.Phe542=) c.*2082C= (n.*2082C=) c.3480C= (p.Phe1160=) c.3462C= (p.Phe1154=) | |
| 22 | g.50721316C>G | CA515261793 | SHANK3 | c.3084C>G (p.Phe1028Leu) n.3668C>G c.2136C>G (p.Phe712Leu) c.1626C>G (p.Phe542Leu) c.*2082C>G (n.*2082C>G) c.3480C>G (p.Phe1160Leu) c.3462C>G (p.Phe1154Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721316C>T | CA515261794 | SHANK3 | c.3084C>T (p.Phe1028=) n.3668C>T c.2136C>T (p.Phe712=) c.1626C>T (p.Phe542=) c.*2082C>T (n.*2082C>T) c.3480C>T (p.Phe1160=) c.3462C>T (p.Phe1154=) | dbSNP gnomAD v4 |
| 22 | g.50721317T>A | CA515261795 | SHANK3 | c.3085T>A (p.Ser1029Thr) n.3669T>A c.2137T>A (p.Ser713Thr) c.1627T>A (p.Ser543Thr) c.*2083T>A (n.*2083T>A) c.3481T>A (p.Ser1161Thr) c.3463T>A (p.Ser1155Thr) | |
| 22 | g.50721317T>C | CA515261797 | SHANK3 | c.3085T>C (p.Ser1029Pro) n.3669T>C c.2137T>C (p.Ser713Pro) c.1627T>C (p.Ser543Pro) c.*2083T>C (n.*2083T>C) c.3481T>C (p.Ser1161Pro) c.3463T>C (p.Ser1155Pro) | |
| 22 | g.50721317T>G | CA515261796 | SHANK3 | c.3085T>G (p.Ser1029Ala) n.3669T>G c.2137T>G (p.Ser713Ala) c.1627T>G (p.Ser543Ala) c.*2083T>G (n.*2083T>G) c.3481T>G (p.Ser1161Ala) c.3463T>G (p.Ser1155Ala) | |
| 22 | g.50721318C>A | CA515261798 | SHANK3 | c.3086C>A (p.Ser1029Tyr) n.3670C>A c.2138C>A (p.Ser713Tyr) c.1628C>A (p.Ser543Tyr) c.*2084C>A (n.*2084C>A) c.3482C>A (p.Ser1161Tyr) c.3464C>A (p.Ser1155Tyr) | |
| 22 | g.50721318C= | CA2411008166 | SHANK3 | c.3086C= (p.Ser1029=) n.3670C= c.2138C= (p.Ser713=) c.1628C= (p.Ser543=) c.*2084C= (n.*2084C=) c.3482C= (p.Ser1161=) c.3464C= (p.Ser1155=) | |
| 22 | g.50721318C>G | CA515261799 | SHANK3 | c.3086C>G (p.Ser1029Cys) n.3670C>G c.2138C>G (p.Ser713Cys) c.1628C>G (p.Ser543Cys) c.*2084C>G (n.*2084C>G) c.3482C>G (p.Ser1161Cys) c.3464C>G (p.Ser1155Cys) | dbSNP gnomAD v4 |
| 22 | g.50721318C>T | CA515261800 | SHANK3 | c.3086C>T (p.Ser1029Phe) n.3670C>T c.2138C>T (p.Ser713Phe) c.1628C>T (p.Ser543Phe) c.*2084C>T (n.*2084C>T) c.3482C>T (p.Ser1161Phe) c.3464C>T (p.Ser1155Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721319C>A | CA515261801 | SHANK3 | c.3087C>A (p.Ser1029=) n.3671C>A c.2139C>A (p.Ser713=) c.1629C>A (p.Ser543=) c.*2085C>A (n.*2085C>A) c.3483C>A (p.Ser1161=) c.3465C>A (p.Ser1155=) | |
| 22 | g.50721319C= | CA2411008167 | SHANK3 | c.3087C= (p.Ser1029=) n.3671C= c.2139C= (p.Ser713=) c.1629C= (p.Ser543=) c.*2085C= (n.*2085C=) c.3483C= (p.Ser1161=) c.3465C= (p.Ser1155=) | |
| 22 | g.50721319C>G | CA515261802 | SHANK3 | c.3087C>G (p.Ser1029=) n.3671C>G c.2139C>G (p.Ser713=) c.1629C>G (p.Ser543=) c.*2085C>G (n.*2085C>G) c.3483C>G (p.Ser1161=) c.3465C>G (p.Ser1155=) | dbSNP |
| 22 | g.50721319C>T | CA10326046 | SHANK3 | c.3087C>T (p.Ser1029=) n.3671C>T c.2139C>T (p.Ser713=) c.1629C>T (p.Ser543=) c.*2085C>T (n.*2085C>T) c.3483C>T (p.Ser1161=) c.3465C>T (p.Ser1155=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721320C>A | CA515261804 | SHANK3 | c.3088C>A (p.Pro1030Thr) n.3672C>A c.2140C>A (p.Pro714Thr) c.1630C>A (p.Pro544Thr) c.*2086C>A (n.*2086C>A) c.3484C>A (p.Pro1162Thr) c.3466C>A (p.Pro1156Thr) | |
| 22 | g.50721320C= | CA2411008168 | SHANK3 | c.3088C= (p.Pro1030=) n.3672C= c.2140C= (p.Pro714=) c.1630C= (p.Pro544=) c.*2086C= (n.*2086C=) c.3484C= (p.Pro1162=) c.3466C= (p.Pro1156=) | |
| 22 | g.50721320C>G | CA515261807 | SHANK3 | c.3088C>G (p.Pro1030Ala) n.3672C>G c.2140C>G (p.Pro714Ala) c.1630C>G (p.Pro544Ala) c.*2086C>G (n.*2086C>G) c.3484C>G (p.Pro1162Ala) c.3466C>G (p.Pro1156Ala) | |
| 22 | g.50721320C>T | CA325579002 | SHANK3 | c.3088C>T (p.Pro1030Ser) n.3672C>T c.2140C>T (p.Pro714Ser) c.1630C>T (p.Pro544Ser) c.*2086C>T (n.*2086C>T) c.3484C>T (p.Pro1162Ser) c.3466C>T (p.Pro1156Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721321C>A | CA515261809 | SHANK3 | c.3089C>A (p.Pro1030Gln) n.3673C>A c.2141C>A (p.Pro714Gln) c.1631C>A (p.Pro544Gln) c.*2087C>A (n.*2087C>A) c.3485C>A (p.Pro1162Gln) c.3467C>A (p.Pro1156Gln) | |
| 22 | g.50721321C= | CA2411008169 | SHANK3 | c.3089C= (p.Pro1030=) n.3673C= c.2141C= (p.Pro714=) c.1631C= (p.Pro544=) c.*2087C= (n.*2087C=) c.3485C= (p.Pro1162=) c.3467C= (p.Pro1156=) | |
| 22 | g.50721321C>G | CA515261810 | SHANK3 | c.3089C>G (p.Pro1030Arg) n.3673C>G c.2141C>G (p.Pro714Arg) c.1631C>G (p.Pro544Arg) c.*2087C>G (n.*2087C>G) c.3485C>G (p.Pro1162Arg) c.3467C>G (p.Pro1156Arg) | dbSNP gnomAD v4 |
| 22 | g.50721321C>T | CA515261811 | SHANK3 | c.3089C>T (p.Pro1030Leu) n.3673C>T c.2141C>T (p.Pro714Leu) c.1631C>T (p.Pro544Leu) c.*2087C>T (n.*2087C>T) c.3485C>T (p.Pro1162Leu) c.3467C>T (p.Pro1156Leu) | gnomAD v4 COSMIC COSMIC |
| 22 | g.50721322A= | CA2411008170 | SHANK3 | c.3090A= (p.Pro1030=) n.3674A= c.2142A= (p.Pro714=) c.1632A= (p.Pro544=) c.*2088A= (n.*2088A=) c.3486A= (p.Pro1162=) c.3468A= (p.Pro1156=) | |
| 22 | g.50721322A>C | CA515261814 | SHANK3 | c.3090A>C (p.Pro1030=) n.3674A>C c.2142A>C (p.Pro714=) c.1632A>C (p.Pro544=) c.*2088A>C (n.*2088A>C) c.3486A>C (p.Pro1162=) c.3468A>C (p.Pro1156=) | |
| 22 | g.50721322A>G | CA515261813 | SHANK3 | c.3090A>G (p.Pro1030=) n.3674A>G c.2142A>G (p.Pro714=) c.1632A>G (p.Pro544=) c.*2088A>G (n.*2088A>G) c.3486A>G (p.Pro1162=) c.3468A>G (p.Pro1156=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721322A>T | CA515261812 | SHANK3 | c.3090A>T (p.Pro1030=) n.3674A>T c.2142A>T (p.Pro714=) c.1632A>T (p.Pro544=) c.*2088A>T (n.*2088A>T) c.3486A>T (p.Pro1162=) c.3468A>T (p.Pro1156=) | |
| 22 | g.50721323C>A | CA515261815 | SHANK3 | c.3091C>A (p.Arg1031=) n.3675C>A c.2143C>A (p.Arg715=) c.1633C>A (p.Arg545=) c.*2089C>A (n.*2089C>A) c.3487C>A (p.Arg1163=) c.3469C>A (p.Arg1157=) | gnomAD v4 |
| 22 | g.50721323C= | CA2411008171 | SHANK3 | c.3091C= (p.Arg1031=) n.3675C= c.2143C= (p.Arg715=) c.1633C= (p.Arg545=) c.*2089C= (n.*2089C=) c.3487C= (p.Arg1163=) c.3469C= (p.Arg1157=) | |
| 22 | g.50721323C>G | CA515261816 | SHANK3 | c.3091C>G (p.Arg1031Gly) n.3675C>G c.2143C>G (p.Arg715Gly) c.1633C>G (p.Arg545Gly) c.*2089C>G (n.*2089C>G) c.3487C>G (p.Arg1163Gly) c.3469C>G (p.Arg1157Gly) | |
| 22 | g.50721323C>T | CA10326047 | SHANK3 | c.3091C>T (p.Arg1031Trp) n.3675C>T c.2143C>T (p.Arg715Trp) c.1633C>T (p.Arg545Trp) c.*2089C>T (n.*2089C>T) c.3487C>T (p.Arg1163Trp) c.3469C>T (p.Arg1157Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 22 | g.50721324G>A | CA515261818 | SHANK3 | c.3092G>A (p.Arg1031Gln) n.3676G>A c.2144G>A (p.Arg715Gln) c.1634G>A (p.Arg545Gln) c.*2090G>A (n.*2090G>A) c.3488G>A (p.Arg1163Gln) c.3470G>A (p.Arg1157Gln) | |
| 22 | g.50721324G>C | CA515261819 | SHANK3 | c.3092G>C (p.Arg1031Pro) n.3676G>C c.2144G>C (p.Arg715Pro) c.1634G>C (p.Arg545Pro) c.*2090G>C (n.*2090G>C) c.3488G>C (p.Arg1163Pro) c.3470G>C (p.Arg1157Pro) | |
| 22 | g.50721324G>T | CA515261820 | SHANK3 | c.3092G>T (p.Arg1031Leu) n.3676G>T c.2144G>T (p.Arg715Leu) c.1634G>T (p.Arg545Leu) c.*2090G>T (n.*2090G>T) c.3488G>T (p.Arg1163Leu) c.3470G>T (p.Arg1157Leu) | |
| 22 | g.50721325G>A | CA515261821 | SHANK3 | c.3093G>A (p.Arg1031=) n.3677G>A c.2145G>A (p.Arg715=) c.1635G>A (p.Arg545=) c.*2091G>A (n.*2091G>A) c.3489G>A (p.Arg1163=) c.3471G>A (p.Arg1157=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721325G>C | CA10326048 | SHANK3 | c.3093G>C (p.Arg1031=) n.3677G>C c.2145G>C (p.Arg715=) c.1635G>C (p.Arg545=) c.*2091G>C (n.*2091G>C) c.3489G>C (p.Arg1163=) c.3471G>C (p.Arg1157=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721325G= | CA2411008172 | SHANK3 | c.3093G= (p.Arg1031=) n.3677G= c.2145G= (p.Arg715=) c.1635G= (p.Arg545=) c.*2091G= (n.*2091G=) c.3489G= (p.Arg1163=) c.3471G= (p.Arg1157=) | |
| 22 | g.50721325G>T | CA515261824 | SHANK3 | c.3093G>T (p.Arg1031=) n.3677G>T c.2145G>T (p.Arg715=) c.1635G>T (p.Arg545=) c.*2091G>T (n.*2091G>T) c.3489G>T (p.Arg1163=) c.3471G>T (p.Arg1157=) | |
| 22 | g.50721326A>C | CA515261826 | SHANK3 | c.3094A>C (p.Ser1032Arg) n.3678A>C c.2146A>C (p.Ser716Arg) c.1636A>C (p.Ser546Arg) c.*2092A>C (n.*2092A>C) c.3490A>C (p.Ser1164Arg) c.3472A>C (p.Ser1158Arg) | |
| 22 | g.50721326A>G | CA515261827 | SHANK3 | c.3094A>G (p.Ser1032Gly) n.3678A>G c.2146A>G (p.Ser716Gly) c.1636A>G (p.Ser546Gly) c.*2092A>G (n.*2092A>G) c.3490A>G (p.Ser1164Gly) c.3472A>G (p.Ser1158Gly) | |
| 22 | g.50721326A>T | CA515261828 | SHANK3 | c.3094A>T (p.Ser1032Cys) n.3678A>T c.2146A>T (p.Ser716Cys) c.1636A>T (p.Ser546Cys) c.*2092A>T (n.*2092A>T) c.3490A>T (p.Ser1164Cys) c.3472A>T (p.Ser1158Cys) | |
| 22 | g.50721327G>A | CA515261829 | SHANK3 | c.3095G>A (p.Ser1032Asn) n.3679G>A c.2147G>A (p.Ser716Asn) c.1637G>A (p.Ser546Asn) c.*2093G>A (n.*2093G>A) c.3491G>A (p.Ser1164Asn) c.3473G>A (p.Ser1158Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721327G>C | CA515261831 | SHANK3 | c.3095G>C (p.Ser1032Thr) n.3679G>C c.2147G>C (p.Ser716Thr) c.1637G>C (p.Ser546Thr) c.*2093G>C (n.*2093G>C) c.3491G>C (p.Ser1164Thr) c.3473G>C (p.Ser1158Thr) | |
| 22 | g.50721327G= | CA2411008173 | SHANK3 | c.3095G= (p.Ser1032=) n.3679G= c.2147G= (p.Ser716=) c.1637G= (p.Ser546=) c.*2093G= (n.*2093G=) c.3491G= (p.Ser1164=) c.3473G= (p.Ser1158=) | |
| 22 | g.50721327G>T | CA515261830 | SHANK3 | c.3095G>T (p.Ser1032Ile) n.3679G>T c.2147G>T (p.Ser716Ile) c.1637G>T (p.Ser546Ile) c.*2093G>T (n.*2093G>T) c.3491G>T (p.Ser1164Ile) c.3473G>T (p.Ser1158Ile) | gnomAD v4 |
| 22 | g.50721328C>A | CA515261834 | SHANK3 | c.3096C>A (p.Ser1032Arg) n.3680C>A c.2148C>A (p.Ser716Arg) c.1638C>A (p.Ser546Arg) c.*2094C>A (n.*2094C>A) c.3492C>A (p.Ser1164Arg) c.3474C>A (p.Ser1158Arg) | |
| 22 | g.50721328C= | CA2411008174 | SHANK3 | c.3096C= (p.Ser1032=) n.3680C= c.2148C= (p.Ser716=) c.1638C= (p.Ser546=) c.*2094C= (n.*2094C=) c.3492C= (p.Ser1164=) c.3474C= (p.Ser1158=) | |
| 22 | g.50721328C>G | CA325579007 | SHANK3 | c.3096C>G (p.Ser1032Arg) n.3680C>G c.2148C>G (p.Ser716Arg) c.1638C>G (p.Ser546Arg) c.*2094C>G (n.*2094C>G) c.3492C>G (p.Ser1164Arg) c.3474C>G (p.Ser1158Arg) | dbSNP gnomAD v4 |
| 22 | g.50721328C>T | CA10326049 | SHANK3 | c.3096C>T (p.Ser1032=) n.3680C>T c.2148C>T (p.Ser716=) c.1638C>T (p.Ser546=) c.*2094C>T (n.*2094C>T) c.3492C>T (p.Ser1164=) c.3474C>T (p.Ser1158=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721329C>A | CA515261837 | SHANK3 | c.3097C>A (p.Pro1033Thr) n.3681C>A c.2149C>A (p.Pro717Thr) c.1639C>A (p.Pro547Thr) c.*2095C>A (n.*2095C>A) c.3493C>A (p.Pro1165Thr) c.3475C>A (p.Pro1159Thr) | |
| 22 | g.50721329C>G | CA515261839 | SHANK3 | c.3097C>G (p.Pro1033Ala) n.3681C>G c.2149C>G (p.Pro717Ala) c.1639C>G (p.Pro547Ala) c.*2095C>G (n.*2095C>G) c.3493C>G (p.Pro1165Ala) c.3475C>G (p.Pro1159Ala) | |
| 22 | g.50721329C>T | CA515261840 | SHANK3 | c.3097C>T (p.Pro1033Ser) n.3681C>T c.2149C>T (p.Pro717Ser) c.1639C>T (p.Pro547Ser) c.*2095C>T (n.*2095C>T) c.3493C>T (p.Pro1165Ser) c.3475C>T (p.Pro1159Ser) | gnomAD v4 |
| 22 | g.50721330C>A | CA515261841 | SHANK3 | c.3098C>A (p.Pro1033Gln) n.3682C>A c.2150C>A (p.Pro717Gln) c.1640C>A (p.Pro547Gln) c.*2096C>A (n.*2096C>A) c.3494C>A (p.Pro1165Gln) c.3476C>A (p.Pro1159Gln) | |
| 22 | g.50721330C>G | CA515261842 | SHANK3 | c.3098C>G (p.Pro1033Arg) n.3682C>G c.2150C>G (p.Pro717Arg) c.1640C>G (p.Pro547Arg) c.*2096C>G (n.*2096C>G) c.3494C>G (p.Pro1165Arg) c.3476C>G (p.Pro1159Arg) | |
| 22 | g.50721330C>T | CA515261843 | SHANK3 | c.3098C>T (p.Pro1033Leu) n.3682C>T c.2150C>T (p.Pro717Leu) c.1640C>T (p.Pro547Leu) c.*2096C>T (n.*2096C>T) c.3494C>T (p.Pro1165Leu) c.3476C>T (p.Pro1159Leu) | gnomAD v4 |
| 22 | g.50721331A= | CA2411008175 | SHANK3 | c.3099A= (p.Pro1033=) n.3683A= c.2151A= (p.Pro717=) c.1641A= (p.Pro547=) c.*2097A= (n.*2097A=) c.3495A= (p.Pro1165=) c.3477A= (p.Pro1159=) | |
| 22 | g.50721331A>C | CA515261844 | SHANK3 | c.3099A>C (p.Pro1033=) n.3683A>C c.2151A>C (p.Pro717=) c.1641A>C (p.Pro547=) c.*2097A>C (n.*2097A>C) c.3495A>C (p.Pro1165=) c.3477A>C (p.Pro1159=) | |
| 22 | g.50721331A>G | CA515261846 | SHANK3 | c.3099A>G (p.Pro1033=) n.3683A>G c.2151A>G (p.Pro717=) c.1641A>G (p.Pro547=) c.*2097A>G (n.*2097A>G) c.3495A>G (p.Pro1165=) c.3477A>G (p.Pro1159=) | |
| 22 | g.50721331A>T | CA515261847 | SHANK3 | c.3099A>T (p.Pro1033=) n.3683A>T c.2151A>T (p.Pro717=) c.1641A>T (p.Pro547=) c.*2097A>T (n.*2097A>T) c.3495A>T (p.Pro1165=) c.3477A>T (p.Pro1159=) | dbSNP gnomAD v4 |
| 22 | g.50721332G>A | CA515261848 | SHANK3 | c.3100G>A (p.Ala1034Thr) n.3684G>A c.2152G>A (p.Ala718Thr) c.1642G>A (p.Ala548Thr) c.*2098G>A (n.*2098G>A) c.3496G>A (p.Ala1166Thr) c.3478G>A (p.Ala1160Thr) | gnomAD v4 |
| 22 | g.50721332G>C | CA515261850 | SHANK3 | c.3100G>C (p.Ala1034Pro) n.3684G>C c.2152G>C (p.Ala718Pro) c.1642G>C (p.Ala548Pro) c.*2098G>C (n.*2098G>C) c.3496G>C (p.Ala1166Pro) c.3478G>C (p.Ala1160Pro) | gnomAD v4 |
| 22 | g.50721332G= | CA2411008176 | SHANK3 | c.3100G= (p.Ala1034=) n.3684G= c.2152G= (p.Ala718=) c.1642G= (p.Ala548=) c.*2098G= (n.*2098G=) c.3496G= (p.Ala1166=) c.3478G= (p.Ala1160=) | |
| 22 | g.50721332G>T | CA515261851 | SHANK3 | c.3100G>T (p.Ala1034Ser) n.3684G>T c.2152G>T (p.Ala718Ser) c.1642G>T (p.Ala548Ser) c.*2098G>T (n.*2098G>T) c.3496G>T (p.Ala1166Ser) c.3478G>T (p.Ala1160Ser) | dbSNP gnomAD v4 |
| 22 | g.50721333C>A | CA515261853 | SHANK3 | c.3101C>A (p.Ala1034Asp) n.3685C>A c.2153C>A (p.Ala718Asp) c.1643C>A (p.Ala548Asp) c.*2099C>A (n.*2099C>A) c.3497C>A (p.Ala1166Asp) c.3479C>A (p.Ala1160Asp) | |
| 22 | g.50721333C= | CA2411008177 | SHANK3 | c.3101C= (p.Ala1034=) n.3685C= c.2153C= (p.Ala718=) c.1643C= (p.Ala548=) c.*2099C= (n.*2099C=) c.3497C= (p.Ala1166=) c.3479C= (p.Ala1160=) | |
| 22 | g.50721333C>G | CA515261856 | SHANK3 | c.3101C>G (p.Ala1034Gly) n.3685C>G c.2153C>G (p.Ala718Gly) c.1643C>G (p.Ala548Gly) c.*2099C>G (n.*2099C>G) c.3497C>G (p.Ala1166Gly) c.3479C>G (p.Ala1160Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721333C>T | CA515261854 | SHANK3 | c.3101C>T (p.Ala1034Val) n.3685C>T c.2153C>T (p.Ala718Val) c.1643C>T (p.Ala548Val) c.*2099C>T (n.*2099C>T) c.3497C>T (p.Ala1166Val) c.3479C>T (p.Ala1160Val) | dbSNP |
| 22 | g.50721334C>A | CA515261858 | SHANK3 | c.3102C>A (p.Ala1034=) n.3686C>A c.2154C>A (p.Ala718=) c.1644C>A (p.Ala548=) c.*2100C>A (n.*2100C>A) c.3498C>A (p.Ala1166=) c.3480C>A (p.Ala1160=) | COSMIC COSMIC |
| 22 | g.50721334C= | CA2411008178 | SHANK3 | c.3102C= (p.Ala1034=) n.3686C= c.2154C= (p.Ala718=) c.1644C= (p.Ala548=) c.*2100C= (n.*2100C=) c.3498C= (p.Ala1166=) c.3480C= (p.Ala1160=) | |
| 22 | g.50721334C>G | CA515261859 | SHANK3 | c.3102C>G (p.Ala1034=) n.3686C>G c.2154C>G (p.Ala718=) c.1644C>G (p.Ala548=) c.*2100C>G (n.*2100C>G) c.3498C>G (p.Ala1166=) c.3480C>G (p.Ala1160=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721334C>T | CA10326050 | SHANK3 | c.3102C>T (p.Ala1034=) n.3686C>T c.2154C>T (p.Ala718=) c.1644C>T (p.Ala548=) c.*2100C>T (n.*2100C>T) c.3498C>T (p.Ala1166=) c.3480C>T (p.Ala1160=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721335T>A | CA515261861 | SHANK3 | c.3103T>A (p.Trp1035Arg) n.3687T>A c.2155T>A (p.Trp719Arg) c.1645T>A (p.Trp549Arg) c.*2101T>A (n.*2101T>A) c.3499T>A (p.Trp1167Arg) c.3481T>A (p.Trp1161Arg) | |
| 22 | g.50721335T>C | CA515261863 | SHANK3 | c.3103T>C (p.Trp1035Arg) n.3687T>C c.2155T>C (p.Trp719Arg) c.1645T>C (p.Trp549Arg) c.*2101T>C (n.*2101T>C) c.3499T>C (p.Trp1167Arg) c.3481T>C (p.Trp1161Arg) | |
| 22 | g.50721335T>G | CA515261864 | SHANK3 | c.3103T>G (p.Trp1035Gly) n.3687T>G c.2155T>G (p.Trp719Gly) c.1645T>G (p.Trp549Gly) c.*2101T>G (n.*2101T>G) c.3499T>G (p.Trp1167Gly) c.3481T>G (p.Trp1161Gly) | |
| 22 | g.50721336G>A | CA515261865 | SHANK3 | c.3104G>A (p.Trp1035Ter) n.3688G>A c.2156G>A (p.Trp719Ter) c.1646G>A (p.Trp549Ter) c.*2102G>A (n.*2102G>A) c.3500G>A (p.Trp1167Ter) c.3482G>A (p.Trp1161Ter) | |
| 22 | g.50721336G>C | CA515261866 | SHANK3 | c.3104G>C (p.Trp1035Ser) n.3688G>C c.2156G>C (p.Trp719Ser) c.1646G>C (p.Trp549Ser) c.*2102G>C (n.*2102G>C) c.3500G>C (p.Trp1167Ser) c.3482G>C (p.Trp1161Ser) | gnomAD v4 |
| 22 | g.50721336G>T | CA515261867 | SHANK3 | c.3104G>T (p.Trp1035Leu) n.3688G>T c.2156G>T (p.Trp719Leu) c.1646G>T (p.Trp549Leu) c.*2102G>T (n.*2102G>T) c.3500G>T (p.Trp1167Leu) c.3482G>T (p.Trp1161Leu) |