| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50697502_50697596delinsGCGGCCGCGGCATGGAGCGAGCCTGGCGCGCCCAGGAGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCCCGCACCGCCGCC | CA2410995259 | SHANK3 | c.948-62_980delinsGCGGCCGCGGCATGGAGCGAGCCTGGCGCGCCCAGGAGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCCCGCACCGCCGCC n.1532-62_1564delinsGCGGCCGCGGCATGGAGCGAGCCTGGCGCGCCCAGGAGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCCCGCACCGCCGCC c.1305-62_1337delinsGCGGCCGCGGCATGGAGCGAGCCTGGCGCGCCCAGGAGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCCCGCACCGCCGCC c.1345-63_1376delinsGCGGCCGCGGCATGGAGCGAGCCTGGCGCGCCCAGGAGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCCCGCACCGCCGCC c.1326-62_1358delinsGCGGCCGCGGCATGGAGCGAGCCTGGCGCGCCCAGGAGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCCCGCACCGCCGCC | |
| 22 | g.50697504_50697597del | CA1026686745 | SHANK3 | c.948-60_981del n.1532-60_1565del c.1305-60_1338del c.1345-61_1377del c.1326-60_1359del | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50697539_50697589delinsGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCCCGCAC | CA2410995301 | SHANK3 | c.948-25_973delinsGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCCCGCAC n.1532-25_1557delinsGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCCCGCAC c.1305-25_1330delinsGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCCCGCAC c.1345-26_1369delinsGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCCCGCAC c.1326-25_1351delinsGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCCCGCAC | |
| 22 | g.50697541_50697590del | CA1026687076 | SHANK3 | c.948-23_974del n.1532-23_1558del c.1305-23_1331del c.1345-24_1370del c.1326-23_1352del | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50697571_50697593del | CA1026687628 | SHANK3 | c.955_977del (p.Pro319AlafsTer28) n.1539_1561del c.7_29del (p.Pro3AlafsTer28) c.1312_1334del (p.Pro438AlafsTer28) c.8_30del c.1351_1373del (p.Pro451AlafsTer28) c.1333_1355del (p.Pro445AlafsTer28) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50697575_50697590del | CA1026687638 | SHANK3 | c.959_974del (p.Pro320ArgfsTer22) n.1543_1558del c.11_26del (p.Pro4ArgfsTer22) c.1316_1331del (p.Pro439ArgfsTer22) c.12_27del c.1355_1370del (p.Pro452ArgfsTer22) c.1337_1352del (p.Pro446ArgfsTer22) | gnomAD v3 gnomAD v4 |
| 22 | g.50697579_50697587dup | CA2657598565 | SHANK3 | c.963_971dup (p.Ala324_Pro325insProProAla) n.1547_1555dup c.15_23dup (p.Ala8_Pro9insProProAla) c.1320_1328dup (p.Ala443_Pro444insProProAla) c.16_24dup c.1359_1367dup (p.Ala456_Pro457insProProAla) c.1341_1349dup (p.Ala450_Pro451insProProAla) | gnomAD v4 |
| 22 | g.50697579_50697587del | CA2657598564 | SHANK3 | c.963_971del (p.Pro322_Ala324del) n.1547_1555del c.15_23del (p.Pro6_Ala8del) c.1320_1328del (p.Pro441_Ala443del) c.16_24del c.1359_1367del (p.Pro454_Ala456del) c.1341_1349del (p.Pro448_Ala450del) | gnomAD v4 |
| 22 | g.50697586del | CA2657598629 | SHANK3 | c.970del (p.Ala324HisfsTer23) n.1554del c.22del (p.Ala8HisfsTer23) c.1327del (p.Ala443HisfsTer23) c.23del c.1366del (p.Ala456HisfsTer23) c.1348del (p.Ala450HisfsTer23) | gnomAD v4 |
| 22 | g.50697586G>A | CA325553892 | SHANK3 | c.970G>A (p.Ala324Thr) n.1554G>A c.22G>A (p.Ala8Thr) c.1327G>A (p.Ala443Thr) c.23G>A c.1366G>A (p.Ala456Thr) c.1348G>A (p.Ala450Thr) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50697586G>C | CA515254904 | SHANK3 | c.970G>C (p.Ala324Pro) n.1554G>C c.22G>C (p.Ala8Pro) c.1327G>C (p.Ala443Pro) c.23G>C c.1366G>C (p.Ala456Pro) c.1348G>C (p.Ala450Pro) | gnomAD v4 |
| 22 | g.50697586G= | CA2410995358 | SHANK3 | c.970G= (p.Ala324=) n.1554G= c.22G= (p.Ala8=) c.1327G= (p.Ala443=) c.23G= c.1366G= (p.Ala456=) c.1348G= (p.Ala450=) | |
| 22 | g.50697586G>T | CA515254906 | SHANK3 | c.970G>T (p.Ala324Ser) n.1554G>T c.22G>T (p.Ala8Ser) c.1327G>T (p.Ala443Ser) c.23G>T c.1366G>T (p.Ala456Ser) c.1348G>T (p.Ala450Ser) | gnomAD v4 |
| 22 | g.50697587C>A | CA515254909 | SHANK3 | c.971C>A (p.Ala324Glu) n.1555C>A c.23C>A (p.Ala8Glu) c.1328C>A (p.Ala443Glu) c.24C>A c.1367C>A (p.Ala456Glu) c.1349C>A (p.Ala450Glu) | gnomAD v4 |
| 22 | g.50697587C>G | CA515254908 | SHANK3 | c.971C>G (p.Ala324Gly) n.1555C>G c.23C>G (p.Ala8Gly) c.1328C>G (p.Ala443Gly) c.24C>G c.1367C>G (p.Ala456Gly) c.1349C>G (p.Ala450Gly) | |
| 22 | g.50697587C>T | CA515254907 | SHANK3 | c.971C>T (p.Ala324Val) n.1555C>T c.23C>T (p.Ala8Val) c.1328C>T (p.Ala443Val) c.24C>T c.1367C>T (p.Ala456Val) c.1349C>T (p.Ala450Val) | gnomAD v4 |
| 22 | g.50697587_50697590del | CA2657598633 | SHANK3 | c.971_974del (p.Ala324GlyfsTer22) n.1555_1558del c.23_26del (p.Ala8GlyfsTer22) c.1328_1331del (p.Ala443GlyfsTer22) c.24_27del c.1367_1370del (p.Ala456GlyfsTer22) c.1349_1352del (p.Ala450GlyfsTer22) | gnomAD v4 |
| 22 | g.50697588_50697590del | CA2657598632 | SHANK3 | c.972_974del (p.Pro325del) n.1556_1558del c.24_26del (p.Pro9del) c.1329_1331del (p.Pro444del) c.25_27del c.1368_1370del (p.Pro457del) c.1350_1352del (p.Pro451del) | gnomAD v4 |
| 22 | g.50697588del | CA2577768311 | SHANK3 | c.972del (p.Pro325ArgfsTer22) n.1556del c.24del (p.Pro9ArgfsTer22) c.1329del (p.Pro444ArgfsTer22) c.25del c.1368del (p.Pro457ArgfsTer22) c.1350del (p.Pro451ArgfsTer22) | |
| 22 | g.50697588A= | CA2410995359 | SHANK3 | c.972A= (p.Ala324=) n.1556A= c.24A= (p.Ala8=) c.1329A= (p.Ala443=) c.25A= c.1368A= (p.Ala456=) c.1350A= (p.Ala450=) | |
| 22 | g.50697588A>C | CA515254913 | SHANK3 | c.972A>C (p.Ala324=) n.1556A>C c.24A>C (p.Ala8=) c.1329A>C (p.Ala443=) c.25A>C c.1368A>C (p.Ala456=) c.1350A>C (p.Ala450=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50697588A>G | CA515254911 | SHANK3 | c.972A>G (p.Ala324=) n.1556A>G c.24A>G (p.Ala8=) c.1329A>G (p.Ala443=) c.25A>G c.1368A>G (p.Ala456=) c.1350A>G (p.Ala450=) | gnomAD v3 gnomAD v4 |
| 22 | g.50697588A>T | CA515254912 | SHANK3 | c.972A>T (p.Ala324=) n.1556A>T c.24A>T (p.Ala8=) c.1329A>T (p.Ala443=) c.25A>T c.1368A>T (p.Ala456=) c.1350A>T (p.Ala450=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50697588_50697593delinsACCGCC | CA2410995360 | SHANK3 | c.972_977delinsACCGCC (p.Ala324=) n.1556_1561delinsACCGCC c.24_29delinsACCGCC (p.Ala8=) c.1329_1334delinsACCGCC (p.Ala443=) c.25_30delinsACCGCC c.1368_1373delinsACCGCC (p.Ala456=) c.1350_1355delinsACCGCC (p.Ala450=) | |
| 22 | g.50697588_50697589insGCCGCCGCCGCAGCGCCCGCCGCC | CA2544619070 | SHANK3 | c.972_973insGCCGCCGCCGCAGCGCCCGCCGCC (p.Ala324_Pro325insAlaAlaAlaAlaAlaProAlaAla) n.1556_1557insGCCGCCGCCGCAGCGCCCGCCGCC c.24_25insGCCGCCGCCGCAGCGCCCGCCGCC (p.Ala8_Pro9insAlaAlaAlaAlaAlaProAlaAla) c.1329_1330insGCCGCCGCCGCAGCGCCCGCCGCC (p.Ala443_Pro444insAlaAlaAlaAlaAlaProAlaAla) c.25_26insGCCGCCGCCGCAGCGCCCGCCGCC c.1368_1369insGCCGCCGCCGCAGCGCCCGCCGCC (p.Ala456_Pro457insAlaAlaAlaAlaAlaProAlaAla) c.1350_1351insGCCGCCGCCGCAGCGCCCGCCGCC (p.Ala450_Pro451insAlaAlaAlaAlaAlaProAlaAla) | |
| 22 | g.50697589C>A | CA515254914 | SHANK3 | c.973C>A (p.Pro325Thr) n.1557C>A c.25C>A (p.Pro9Thr) c.1330C>A (p.Pro444Thr) c.26C>A c.1369C>A (p.Pro457Thr) c.1351C>A (p.Pro451Thr) | gnomAD v4 |
| 22 | g.50697589C= | CA2410995361 | SHANK3 | c.973C= (p.Pro325=) n.1557C= c.25C= (p.Pro9=) c.1330C= (p.Pro444=) c.26C= c.1369C= (p.Pro457=) c.1351C= (p.Pro451=) | |
| 22 | g.50697589C>G | CA515254915 | SHANK3 | c.973C>G (p.Pro325Ala) n.1557C>G c.25C>G (p.Pro9Ala) c.1330C>G (p.Pro444Ala) c.26C>G c.1369C>G (p.Pro457Ala) c.1351C>G (p.Pro451Ala) | gnomAD v4 |
| 22 | g.50697589C>T | CA515254916 | SHANK3 | c.973C>T (p.Pro325Ser) n.1557C>T c.25C>T (p.Pro9Ser) c.1330C>T (p.Pro444Ser) c.26C>T c.1369C>T (p.Pro457Ser) c.1351C>T (p.Pro451Ser) | dbSNP gnomAD v4 COSMIC |
| 22 | g.50697589_50697593del | CA1026687697 | SHANK3 | c.973_977del (p.Pro325AlafsTer28) n.1557_1561del c.25_29del (p.Pro9AlafsTer28) c.1330_1334del (p.Pro444AlafsTer28) c.26_30del c.1369_1373del (p.Pro457AlafsTer28) c.1351_1355del (p.Pro451AlafsTer28) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50697594_50697596del | CA2657598643 | SHANK3 | c.978_980del (p.Pro327del) n.1562_1564del c.30_32del (p.Pro11del) c.1335_1337del (p.Pro446del) c.31_33del c.1374_1376del (p.Pro459del) c.1356_1358del (p.Pro453del) | gnomAD v4 |
| 22 | g.50697592_50697599del | CA2524555614 | SHANK3 | c.976_983del (p.Pro326GlyfsTer26) n.1560_1567del c.28_35del (p.Pro10GlyfsTer26) c.1333_1340del (p.Pro445GlyfsTer26) c.29_36del c.1372_1379del (p.Pro458GlyfsTer26) c.1354_1361del (p.Pro452GlyfsTer26) | |
| 22 | g.50697589_50697590insGTG | CA640359017 | SHANK3 | c.973_974insGTG (p.Pro325delinsArgAla) n.1557_1558insGTG c.25_26insGTG (p.Pro9delinsArgAla) c.1330_1331insGTG (p.Pro444delinsArgAla) c.26_27insGTG c.1369_1370insGTG (p.Pro457delinsArgAla) c.1351_1352insGTG (p.Pro451delinsArgAla) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50697590C>A | CA515254919 | SHANK3 | c.974C>A (p.Pro325Gln) n.1558C>A c.26C>A (p.Pro9Gln) c.1331C>A (p.Pro444Gln) c.27C>A c.1370C>A (p.Pro457Gln) c.1352C>A (p.Pro451Gln) | gnomAD v4 |
| 22 | g.50697590C= | CA2410995362 | SHANK3 | c.974C= (p.Pro325=) n.1558C= c.26C= (p.Pro9=) c.1331C= (p.Pro444=) c.27C= c.1370C= (p.Pro457=) c.1352C= (p.Pro451=) | |
| 22 | g.50697590C>G | CA515254918 | SHANK3 | c.974C>G (p.Pro325Arg) n.1558C>G c.26C>G (p.Pro9Arg) c.1331C>G (p.Pro444Arg) c.27C>G c.1370C>G (p.Pro457Arg) c.1352C>G (p.Pro451Arg) | gnomAD v3 gnomAD v4 |
| 22 | g.50697590C>T | CA515254917 | SHANK3 | c.974C>T (p.Pro325Leu) n.1558C>T c.26C>T (p.Pro9Leu) c.1331C>T (p.Pro444Leu) c.27C>T c.1370C>T (p.Pro457Leu) c.1352C>T (p.Pro451Leu) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50697591del | CA2657598654 | SHANK3 | c.975del (p.Pro326ArgfsTer21) n.1559del c.27del (p.Pro10ArgfsTer21) c.1332del (p.Pro445ArgfsTer21) c.28del c.1371del (p.Pro458ArgfsTer21) c.1353del (p.Pro452ArgfsTer21) | gnomAD v4 |
| 22 | g.50697591G>A | CA325553894 | SHANK3 | c.975G>A (p.Pro325=) n.1559G>A c.27G>A (p.Pro9=) c.1332G>A (p.Pro444=) c.28G>A c.1371G>A (p.Pro457=) c.1353G>A (p.Pro451=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50697591G>C | CA515254920 | SHANK3 | c.975G>C (p.Pro325=) n.1559G>C c.27G>C (p.Pro9=) c.1332G>C (p.Pro444=) c.28G>C c.1371G>C (p.Pro457=) c.1353G>C (p.Pro451=) | gnomAD v4 |
| 22 | g.50697591G= | CA2410995363 | SHANK3 | c.975G= (p.Pro325=) n.1559G= c.27G= (p.Pro9=) c.1332G= (p.Pro444=) c.28G= c.1371G= (p.Pro457=) c.1353G= (p.Pro451=) | |
| 22 | g.50697591G>T | CA515254921 | SHANK3 | c.975G>T (p.Pro325=) n.1559G>T c.27G>T (p.Pro9=) c.1332G>T (p.Pro444=) c.28G>T c.1371G>T (p.Pro457=) c.1353G>T (p.Pro451=) | gnomAD v4 |
| 22 | g.50697591_50697592insGG | CA640359018 | SHANK3 | c.975_976insGG (p.Pro326GlyfsTer22) n.1559_1560insGG c.27_28insGG (p.Pro10GlyfsTer22) c.1332_1333insGG (p.Pro445GlyfsTer22) c.28_29insGG c.1371_1372insGG (p.Pro458GlyfsTer22) c.1353_1354insGG (p.Pro452GlyfsTer22) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50697592C>A | CA515254922 | SHANK3 | c.976C>A (p.Pro326Thr) n.1560C>A c.28C>A (p.Pro10Thr) c.1333C>A (p.Pro445Thr) c.29C>A c.1372C>A (p.Pro458Thr) c.1354C>A (p.Pro452Thr) | gnomAD v4 |
| 22 | g.50697592C= | CA2410995364 | SHANK3 | c.976C= (p.Pro326=) n.1560C= c.28C= (p.Pro10=) c.1333C= (p.Pro445=) c.29C= c.1372C= (p.Pro458=) c.1354C= (p.Pro452=) | |
| 22 | g.50697592C>G | CA515254923 | SHANK3 | c.976C>G (p.Pro326Ala) n.1560C>G c.28C>G (p.Pro10Ala) c.1333C>G (p.Pro445Ala) c.29C>G c.1372C>G (p.Pro458Ala) c.1354C>G (p.Pro452Ala) | gnomAD v4 |
| 22 | g.50697592C>T | CA515254924 | SHANK3 | c.976C>T (p.Pro326Ser) n.1560C>T c.28C>T (p.Pro10Ser) c.1333C>T (p.Pro445Ser) c.29C>T c.1372C>T (p.Pro458Ser) c.1354C>T (p.Pro452Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50697592_50697593insT | CA1026687714 | SHANK3 | c.976_977insT (p.Pro326LeufsTer29) n.1560_1561insT c.28_29insT (p.Pro10LeufsTer29) c.1333_1334insT (p.Pro445LeufsTer29) c.29_30insT c.1372_1373insT (p.Pro458LeufsTer29) c.1354_1355insT (p.Pro452LeufsTer29) | gnomAD v3 gnomAD v4 |
| 22 | g.50697592_50697593insTCGTG | CA2526389926 | SHANK3 | c.976_977insTCGTG (p.Pro326LeufsTer23) n.1560_1561insTCGTG c.28_29insTCGTG (p.Pro10LeufsTer23) c.1333_1334insTCGTG (p.Pro445LeufsTer23) c.29_30insTCGTG c.1372_1373insTCGTG (p.Pro458LeufsTer23) c.1354_1355insTCGTG (p.Pro452LeufsTer23) | |
| 22 | g.50697592_50697593insTGGCGGGAG | CA640359019 | SHANK3 | c.976_977insTGGCGGGAG (p.Pro326delinsLeuAlaGlyAla) n.1560_1561insTGGCGGGAG c.28_29insTGGCGGGAG (p.Pro10delinsLeuAlaGlyAla) c.1333_1334insTGGCGGGAG (p.Pro445delinsLeuAlaGlyAla) c.29_30insTGGCGGGAG c.1372_1373insTGGCGGGAG (p.Pro458delinsLeuAlaGlyAla) c.1354_1355insTGGCGGGAG (p.Pro452delinsLeuAlaGlyAla) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |