| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50720931_50720956delinsGGGCCATCGAGGGCAGCGCCCCCGGC | CA2411007920 | SHANK3 | c.2699_2724delinsGGGCCATCGAGGGCAGCGCCCCCGGC (p.Gly900=) n.3283_3308delinsGGGCCATCGAGGGCAGCGCCCCCGGC c.1751_1776delinsGGGCCATCGAGGGCAGCGCCCCCGGC (p.Gly584=) c.1241_1266delinsGGGCCATCGAGGGCAGCGCCCCCGGC (p.Gly414=) c.*1697_*1722delinsGGGCCATCGAGGGCAGCGCCCCCGGC (n.*1697_*1722delinsGGGCCATCGAGGGCAGCGCCCCCGGC) c.3095_3120delinsGGGCCATCGAGGGCAGCGCCCCCGGC (p.Gly1032=) c.3077_3102delinsGGGCCATCGAGGGCAGCGCCCCCGGC (p.Gly1026=) | |
| 22 | g.50720933_50720957del | CA915951508 | SHANK3 | c.2701_2725del (p.Ala901ArgfsTer?) n.3285_3309del c.1753_1777del (p.Ala585ArgfsTer?) c.1243_1267del (p.Ala415ArgfsTer?) c.*1699_*1723del (n.*1699_*1723del) c.3097_3121del (p.Ala1033ArgfsTer?) c.3079_3103del (p.Ala1027ArgfsTer?) | ClinVar dbSNP |
| 22 | g.50720954G>A | CA515260760 | SHANK3 | c.2722G>A (p.Gly908Ser) n.3306G>A c.1774G>A (p.Gly592Ser) c.1264G>A (p.Gly422Ser) c.*1720G>A (n.*1720G>A) c.3118G>A (p.Gly1040Ser) c.3100G>A (p.Gly1034Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50720954G>C | CA515260761 | SHANK3 | c.2722G>C (p.Gly908Arg) n.3306G>C c.1774G>C (p.Gly592Arg) c.1264G>C (p.Gly422Arg) c.*1720G>C (n.*1720G>C) c.3118G>C (p.Gly1040Arg) c.3100G>C (p.Gly1034Arg) | gnomAD v4 |
| 22 | g.50720954G= | CA2411007938 | SHANK3 | c.2722G= (p.Gly908=) n.3306G= c.1774G= (p.Gly592=) c.1264G= (p.Gly422=) c.*1720G= (n.*1720G=) c.3118G= (p.Gly1040=) c.3100G= (p.Gly1034=) | |
| 22 | g.50720954G>T | CA515260762 | SHANK3 | c.2722G>T (p.Gly908Cys) n.3306G>T c.1774G>T (p.Gly592Cys) c.1264G>T (p.Gly422Cys) c.*1720G>T (n.*1720G>T) c.3118G>T (p.Gly1040Cys) c.3100G>T (p.Gly1034Cys) | gnomAD v4 |
| 22 | g.50720954_50720955insA | CA2565485691 | SHANK3 | c.2722_2723insA (p.Gly908GlufsTer?) n.3306_3307insA c.1774_1775insA (p.Gly592GlufsTer?) c.1264_1265insA (p.Gly422GlufsTer?) c.*1720_*1721insA (n.*1720_*1721insA) c.3118_3119insA (p.Gly1040GlufsTer?) c.3100_3101insA (p.Gly1034GlufsTer?) | |
| 22 | g.50720955G>A | CA515260763 | SHANK3 | c.2723G>A (p.Gly908Asp) n.3307G>A c.1775G>A (p.Gly592Asp) c.1265G>A (p.Gly422Asp) c.*1721G>A (n.*1721G>A) c.3119G>A (p.Gly1040Asp) c.3101G>A (p.Gly1034Asp) | dbSNP gnomAD v4 |
| 22 | g.50720955G>C | CA515260765 | SHANK3 | c.2723G>C (p.Gly908Ala) n.3307G>C c.1775G>C (p.Gly592Ala) c.1265G>C (p.Gly422Ala) c.*1721G>C (n.*1721G>C) c.3119G>C (p.Gly1040Ala) c.3101G>C (p.Gly1034Ala) | dbSNP gnomAD v2 |
| 22 | g.50720955G= | CA2411007939 | SHANK3 | c.2723G= (p.Gly908=) n.3307G= c.1775G= (p.Gly592=) c.1265G= (p.Gly422=) c.*1721G= (n.*1721G=) c.3119G= (p.Gly1040=) c.3101G= (p.Gly1034=) | |
| 22 | g.50720955G>T | CA515260764 | SHANK3 | c.2723G>T (p.Gly908Val) n.3307G>T c.1775G>T (p.Gly592Val) c.1265G>T (p.Gly422Val) c.*1721G>T (n.*1721G>T) c.3119G>T (p.Gly1040Val) c.3101G>T (p.Gly1034Val) | gnomAD v4 |
| 22 | g.50720956C>A | CA515260766 | SHANK3 | c.2724C>A (p.Gly908=) n.3308C>A c.1776C>A (p.Gly592=) c.1266C>A (p.Gly422=) c.*1722C>A (n.*1722C>A) c.3120C>A (p.Gly1040=) c.3102C>A (p.Gly1034=) | |
| 22 | g.50720956C= | CA2411007940 | SHANK3 | c.2724C= (p.Gly908=) n.3308C= c.1776C= (p.Gly592=) c.1266C= (p.Gly422=) c.*1722C= (n.*1722C=) c.3120C= (p.Gly1040=) c.3102C= (p.Gly1034=) | |
| 22 | g.50720956C>G | CA515260767 | SHANK3 | c.2724C>G (p.Gly908=) n.3308C>G c.1776C>G (p.Gly592=) c.1266C>G (p.Gly422=) c.*1722C>G (n.*1722C>G) c.3120C>G (p.Gly1040=) c.3102C>G (p.Gly1034=) | |
| 22 | g.50720956C>T | CA10325960 | SHANK3 | c.2724C>T (p.Gly908=) n.3308C>T c.1776C>T (p.Gly592=) c.1266C>T (p.Gly422=) c.*1722C>T (n.*1722C>T) c.3120C>T (p.Gly1040=) c.3102C>T (p.Gly1034=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720957G>A | CA515260768 | SHANK3 | c.2725G>A (p.Ala909Thr) n.3309G>A c.1777G>A (p.Ala593Thr) c.1267G>A (p.Ala423Thr) c.*1723G>A (n.*1723G>A) c.3121G>A (p.Ala1041Thr) c.3103G>A (p.Ala1035Thr) | gnomAD v4 |
| 22 | g.50720957G>C | CA515260769 | SHANK3 | c.2725G>C (p.Ala909Pro) n.3309G>C c.1777G>C (p.Ala593Pro) c.1267G>C (p.Ala423Pro) c.*1723G>C (n.*1723G>C) c.3121G>C (p.Ala1041Pro) c.3103G>C (p.Ala1035Pro) | |
| 22 | g.50720957G>T | CA515260770 | SHANK3 | c.2725G>T (p.Ala909Ser) n.3309G>T c.1777G>T (p.Ala593Ser) c.1267G>T (p.Ala423Ser) c.*1723G>T (n.*1723G>T) c.3121G>T (p.Ala1041Ser) c.3103G>T (p.Ala1035Ser) | gnomAD v4 |
| 22 | g.50720958C>A | CA515260771 | SHANK3 | c.2726C>A (p.Ala909Glu) n.3310C>A c.1778C>A (p.Ala593Glu) c.1268C>A (p.Ala423Glu) c.*1724C>A (n.*1724C>A) c.3122C>A (p.Ala1041Glu) c.3104C>A (p.Ala1035Glu) | gnomAD v4 |
| 22 | g.50720958C>G | CA515260772 | SHANK3 | c.2726C>G (p.Ala909Gly) n.3310C>G c.1778C>G (p.Ala593Gly) c.1268C>G (p.Ala423Gly) c.*1724C>G (n.*1724C>G) c.3122C>G (p.Ala1041Gly) c.3104C>G (p.Ala1035Gly) | |
| 22 | g.50720958C>T | CA515260773 | SHANK3 | c.2726C>T (p.Ala909Val) n.3310C>T c.1778C>T (p.Ala593Val) c.1268C>T (p.Ala423Val) c.*1724C>T (n.*1724C>T) c.3122C>T (p.Ala1041Val) c.3104C>T (p.Ala1035Val) | gnomAD v4 |
| 22 | g.50720959G>A | CA515260774 | SHANK3 | c.2727G>A (p.Ala909=) n.3311G>A c.1779G>A (p.Ala593=) c.1269G>A (p.Ala423=) c.*1725G>A (n.*1725G>A) c.3123G>A (p.Ala1041=) c.3105G>A (p.Ala1035=) | |
| 22 | g.50720959G>C | CA515260775 | SHANK3 | c.2727G>C (p.Ala909=) n.3311G>C c.1779G>C (p.Ala593=) c.1269G>C (p.Ala423=) c.*1725G>C (n.*1725G>C) c.3123G>C (p.Ala1041=) c.3105G>C (p.Ala1035=) | |
| 22 | g.50720959G= | CA2411007941 | SHANK3 | c.2727G= (p.Ala909=) n.3311G= c.1779G= (p.Ala593=) c.1269G= (p.Ala423=) c.*1725G= (n.*1725G=) c.3123G= (p.Ala1041=) c.3105G= (p.Ala1035=) | |
| 22 | g.50720959G>T | CA515260776 | SHANK3 | c.2727G>T (p.Ala909=) n.3311G>T c.1779G>T (p.Ala593=) c.1269G>T (p.Ala423=) c.*1725G>T (n.*1725G>T) c.3123G>T (p.Ala1041=) c.3105G>T (p.Ala1035=) | dbSNP gnomAD v4 |
| 22 | g.50720960G>A | CA515260780 | SHANK3 | c.2728G>A (p.Asp910Asn) n.3312G>A c.1780G>A (p.Asp594Asn) c.1270G>A (p.Asp424Asn) c.*1726G>A (n.*1726G>A) c.3124G>A (p.Asp1042Asn) c.3106G>A (p.Asp1036Asn) | |
| 22 | g.50720960G>C | CA515260777 | SHANK3 | c.2728G>C (p.Asp910His) n.3312G>C c.1780G>C (p.Asp594His) c.1270G>C (p.Asp424His) c.*1726G>C (n.*1726G>C) c.3124G>C (p.Asp1042His) c.3106G>C (p.Asp1036His) | ClinVar |
| 22 | g.50720960G>T | CA515260779 | SHANK3 | c.2728G>T (p.Asp910Tyr) n.3312G>T c.1780G>T (p.Asp594Tyr) c.1270G>T (p.Asp424Tyr) c.*1726G>T (n.*1726G>T) c.3124G>T (p.Asp1042Tyr) c.3106G>T (p.Asp1036Tyr) | gnomAD v4 |
| 22 | g.50720961A= | CA2411007942 | SHANK3 | c.2729A= (p.Asp910=) n.3313A= c.1781A= (p.Asp594=) c.1271A= (p.Asp424=) c.*1727A= (n.*1727A=) c.3125A= (p.Asp1042=) c.3107A= (p.Asp1036=) | |
| 22 | g.50720961A>C | CA16621139 | SHANK3 | c.2729A>C (p.Asp910Ala) n.3313A>C c.1781A>C (p.Asp594Ala) c.1271A>C (p.Asp424Ala) c.*1727A>C (n.*1727A>C) c.3125A>C (p.Asp1042Ala) c.3107A>C (p.Asp1036Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720961A>G | CA515260781 | SHANK3 | c.2729A>G (p.Asp910Gly) n.3313A>G c.1781A>G (p.Asp594Gly) c.1271A>G (p.Asp424Gly) c.*1727A>G (n.*1727A>G) c.3125A>G (p.Asp1042Gly) c.3107A>G (p.Asp1036Gly) | |
| 22 | g.50720961A>T | CA515260782 | SHANK3 | c.2729A>T (p.Asp910Val) n.3313A>T c.1781A>T (p.Asp594Val) c.1271A>T (p.Asp424Val) c.*1727A>T (n.*1727A>T) c.3125A>T (p.Asp1042Val) c.3107A>T (p.Asp1036Val) | |
| 22 | g.50720962T>A | CA515260783 | SHANK3 | c.2730T>A (p.Asp910Glu) n.3314T>A c.1782T>A (p.Asp594Glu) c.1272T>A (p.Asp424Glu) c.*1728T>A (n.*1728T>A) c.3126T>A (p.Asp1042Glu) c.3108T>A (p.Asp1036Glu) | |
| 22 | g.50720962T>C | CA515260784 | SHANK3 | c.2730T>C (p.Asp910=) n.3314T>C c.1782T>C (p.Asp594=) c.1272T>C (p.Asp424=) c.*1728T>C (n.*1728T>C) c.3126T>C (p.Asp1042=) c.3108T>C (p.Asp1036=) | |
| 22 | g.50720962T>G | CA515260785 | SHANK3 | c.2730T>G (p.Asp910Glu) n.3314T>G c.1782T>G (p.Asp594Glu) c.1272T>G (p.Asp424Glu) c.*1728T>G (n.*1728T>G) c.3126T>G (p.Asp1042Glu) c.3108T>G (p.Asp1036Glu) | |
| 22 | g.50720963C>A | CA515260786 | SHANK3 | c.2731C>A (p.Leu911Met) n.3315C>A c.1783C>A (p.Leu595Met) c.1273C>A (p.Leu425Met) c.*1729C>A (n.*1729C>A) c.3127C>A (p.Leu1043Met) c.3109C>A (p.Leu1037Met) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50720963C= | CA2411007943 | SHANK3 | c.2731C= (p.Leu911=) n.3315C= c.1783C= (p.Leu595=) c.1273C= (p.Leu425=) c.*1729C= (n.*1729C=) c.3127C= (p.Leu1043=) c.3109C= (p.Leu1037=) | |
| 22 | g.50720963C>G | CA515260787 | SHANK3 | c.2731C>G (p.Leu911Val) n.3315C>G c.1783C>G (p.Leu595Val) c.1273C>G (p.Leu425Val) c.*1729C>G (n.*1729C>G) c.3127C>G (p.Leu1043Val) c.3109C>G (p.Leu1037Val) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50720963C>T | CA10325961 | SHANK3 | c.2731C>T (p.Leu911=) n.3315C>T c.1783C>T (p.Leu595=) c.1273C>T (p.Leu425=) c.*1729C>T (n.*1729C>T) c.3127C>T (p.Leu1043=) c.3109C>T (p.Leu1037=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50720964T>A | CA515260788 | SHANK3 | c.2732T>A (p.Leu911Gln) n.3316T>A c.1784T>A (p.Leu595Gln) c.1274T>A (p.Leu425Gln) c.*1730T>A (n.*1730T>A) c.3128T>A (p.Leu1043Gln) c.3110T>A (p.Leu1037Gln) | |
| 22 | g.50720964T>C | CA515260789 | SHANK3 | c.2732T>C (p.Leu911Pro) n.3316T>C c.1784T>C (p.Leu595Pro) c.1274T>C (p.Leu425Pro) c.*1730T>C (n.*1730T>C) c.3128T>C (p.Leu1043Pro) c.3110T>C (p.Leu1037Pro) | ClinVar |
| 22 | g.50720964T>G | CA515260790 | SHANK3 | c.2732T>G (p.Leu911Arg) n.3316T>G c.1784T>G (p.Leu595Arg) c.1274T>G (p.Leu425Arg) c.*1730T>G (n.*1730T>G) c.3128T>G (p.Leu1043Arg) c.3110T>G (p.Leu1037Arg) | |
| 22 | g.50720965G>A | CA515260792 | SHANK3 | c.2733G>A (p.Leu911=) n.3317G>A c.1785G>A (p.Leu595=) c.1275G>A (p.Leu425=) c.*1731G>A (n.*1731G>A) c.3129G>A (p.Leu1043=) c.3111G>A (p.Leu1037=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50720965G>C | CA515260793 | SHANK3 | c.2733G>C (p.Leu911=) n.3317G>C c.1785G>C (p.Leu595=) c.1275G>C (p.Leu425=) c.*1731G>C (n.*1731G>C) c.3129G>C (p.Leu1043=) c.3111G>C (p.Leu1037=) | dbSNP gnomAD v4 |
| 22 | g.50720965G= | CA2411007944 | SHANK3 | c.2733G= (p.Leu911=) n.3317G= c.1785G= (p.Leu595=) c.1275G= (p.Leu425=) c.*1731G= (n.*1731G=) c.3129G= (p.Leu1043=) c.3111G= (p.Leu1037=) | |
| 22 | g.50720965G>T | CA515260791 | SHANK3 | c.2733G>T (p.Leu911=) n.3317G>T c.1785G>T (p.Leu595=) c.1275G>T (p.Leu425=) c.*1731G>T (n.*1731G>T) c.3129G>T (p.Leu1043=) c.3111G>T (p.Leu1037=) | gnomAD v4 |
| 22 | g.50720966C>A | CA515260794 | SHANK3 | c.2734C>A (p.Pro912Thr) n.3318C>A c.1786C>A (p.Pro596Thr) c.1276C>A (p.Pro426Thr) c.*1732C>A (n.*1732C>A) c.3130C>A (p.Pro1044Thr) c.3112C>A (p.Pro1038Thr) | gnomAD v4 |
| 22 | g.50720966C= | CA2411007945 | SHANK3 | c.2734C= (p.Pro912=) n.3318C= c.1786C= (p.Pro596=) c.1276C= (p.Pro426=) c.*1732C= (n.*1732C=) c.3130C= (p.Pro1044=) c.3112C= (p.Pro1038=) | |
| 22 | g.50720966C>G | CA515260796 | SHANK3 | c.2734C>G (p.Pro912Ala) n.3318C>G c.1786C>G (p.Pro596Ala) c.1276C>G (p.Pro426Ala) c.*1732C>G (n.*1732C>G) c.3130C>G (p.Pro1044Ala) c.3112C>G (p.Pro1038Ala) | |
| 22 | g.50720966C>T | CA515260795 | SHANK3 | c.2734C>T (p.Pro912Ser) n.3318C>T c.1786C>T (p.Pro596Ser) c.1276C>T (p.Pro426Ser) c.*1732C>T (n.*1732C>T) c.3130C>T (p.Pro1044Ser) c.3112C>T (p.Pro1038Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720967C>A | CA515260797 | SHANK3 | c.2735C>A (p.Pro912Gln) n.3319C>A c.1787C>A (p.Pro596Gln) c.1277C>A (p.Pro426Gln) c.*1733C>A (n.*1733C>A) c.3131C>A (p.Pro1044Gln) c.3113C>A (p.Pro1038Gln) | |
| 22 | g.50720967C= | CA2411007946 | SHANK3 | c.2735C= (p.Pro912=) n.3319C= c.1787C= (p.Pro596=) c.1277C= (p.Pro426=) c.*1733C= (n.*1733C=) c.3131C= (p.Pro1044=) c.3113C= (p.Pro1038=) | |
| 22 | g.50720967C>G | CA515260798 | SHANK3 | c.2735C>G (p.Pro912Arg) n.3319C>G c.1787C>G (p.Pro596Arg) c.1277C>G (p.Pro426Arg) c.*1733C>G (n.*1733C>G) c.3131C>G (p.Pro1044Arg) c.3113C>G (p.Pro1038Arg) | gnomAD v4 |
| 22 | g.50720967C>T | CA515260799 | SHANK3 | c.2735C>T (p.Pro912Leu) n.3319C>T c.1787C>T (p.Pro596Leu) c.1277C>T (p.Pro426Leu) c.*1733C>T (n.*1733C>T) c.3131C>T (p.Pro1044Leu) c.3113C>T (p.Pro1038Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50720968A= | CA2411007947 | SHANK3 | c.2736A= (p.Pro912=) n.3320A= c.1788A= (p.Pro596=) c.1278A= (p.Pro426=) c.*1734A= (n.*1734A=) c.3132A= (p.Pro1044=) c.3114A= (p.Pro1038=) | |
| 22 | g.50720968A>C | CA515260800 | SHANK3 | c.2736A>C (p.Pro912=) n.3320A>C c.1788A>C (p.Pro596=) c.1278A>C (p.Pro426=) c.*1734A>C (n.*1734A>C) c.3132A>C (p.Pro1044=) c.3114A>C (p.Pro1038=) | |
| 22 | g.50720968A>G | CA10325962 | SHANK3 | c.2736A>G (p.Pro912=) n.3320A>G c.1788A>G (p.Pro596=) c.1278A>G (p.Pro426=) c.*1734A>G (n.*1734A>G) c.3132A>G (p.Pro1044=) c.3114A>G (p.Pro1038=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720968A>T | CA515260801 | SHANK3 | c.2736A>T (p.Pro912=) n.3320A>T c.1788A>T (p.Pro596=) c.1278A>T (p.Pro426=) c.*1734A>T (n.*1734A>T) c.3132A>T (p.Pro1044=) c.3114A>T (p.Pro1038=) | |
| 22 | g.50720969T>A | CA515260802 | SHANK3 | c.2737T>A (p.Ser913Thr) n.3321T>A c.1789T>A (p.Ser597Thr) c.1279T>A (p.Ser427Thr) c.*1735T>A (n.*1735T>A) c.3133T>A (p.Ser1045Thr) c.3115T>A (p.Ser1039Thr) | |
| 22 | g.50720969T>C | CA515260803 | SHANK3 | c.2737T>C (p.Ser913Pro) n.3321T>C c.1789T>C (p.Ser597Pro) c.1279T>C (p.Ser427Pro) c.*1735T>C (n.*1735T>C) c.3133T>C (p.Ser1045Pro) c.3115T>C (p.Ser1039Pro) | |
| 22 | g.50720969T>G | CA515260804 | SHANK3 | c.2737T>G (p.Ser913Ala) n.3321T>G c.1789T>G (p.Ser597Ala) c.1279T>G (p.Ser427Ala) c.*1735T>G (n.*1735T>G) c.3133T>G (p.Ser1045Ala) c.3115T>G (p.Ser1039Ala) | |
| 22 | g.50720970C>A | CA515260805 | SHANK3 | c.2738C>A (p.Ser913Tyr) n.3322C>A c.1790C>A (p.Ser597Tyr) c.1280C>A (p.Ser427Tyr) c.*1736C>A (n.*1736C>A) c.3134C>A (p.Ser1045Tyr) c.3116C>A (p.Ser1039Tyr) | gnomAD v4 |
| 22 | g.50720970C= | CA2411007948 | SHANK3 | c.2738C= (p.Ser913=) n.3322C= c.1790C= (p.Ser597=) c.1280C= (p.Ser427=) c.*1736C= (n.*1736C=) c.3134C= (p.Ser1045=) c.3116C= (p.Ser1039=) | |
| 22 | g.50720970C>G | CA515260806 | SHANK3 | c.2738C>G (p.Ser913Cys) n.3322C>G c.1790C>G (p.Ser597Cys) c.1280C>G (p.Ser427Cys) c.*1736C>G (n.*1736C>G) c.3134C>G (p.Ser1045Cys) c.3116C>G (p.Ser1039Cys) | |
| 22 | g.50720970C>T | CA515260807 | SHANK3 | c.2738C>T (p.Ser913Phe) n.3322C>T c.1790C>T (p.Ser597Phe) c.1280C>T (p.Ser427Phe) c.*1736C>T (n.*1736C>T) c.3134C>T (p.Ser1045Phe) c.3116C>T (p.Ser1039Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720971C>A | CA515260810 | SHANK3 | c.2739C>A (p.Ser913=) n.3323C>A c.1791C>A (p.Ser597=) c.1281C>A (p.Ser427=) c.*1737C>A (n.*1737C>A) c.3135C>A (p.Ser1045=) c.3117C>A (p.Ser1039=) | gnomAD v4 |
| 22 | g.50720971C= | CA2411007949 | SHANK3 | c.2739C= (p.Ser913=) n.3323C= c.1791C= (p.Ser597=) c.1281C= (p.Ser427=) c.*1737C= (n.*1737C=) c.3135C= (p.Ser1045=) c.3117C= (p.Ser1039=) | |
| 22 | g.50720971C>G | CA515260808 | SHANK3 | c.2739C>G (p.Ser913=) n.3323C>G c.1791C>G (p.Ser597=) c.1281C>G (p.Ser427=) c.*1737C>G (n.*1737C>G) c.3135C>G (p.Ser1045=) c.3117C>G (p.Ser1039=) | |
| 22 | g.50720971C>T | CA515260809 | SHANK3 | c.2739C>T (p.Ser913=) n.3323C>T c.1791C>T (p.Ser597=) c.1281C>T (p.Ser427=) c.*1737C>T (n.*1737C>T) c.3135C>T (p.Ser1045=) c.3117C>T (p.Ser1039=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50720972C>A | CA515260811 | SHANK3 | c.2740C>A (p.Leu914Ile) n.3324C>A c.1792C>A (p.Leu598Ile) c.1282C>A (p.Leu428Ile) c.*1738C>A (n.*1738C>A) c.3136C>A (p.Leu1046Ile) c.3118C>A (p.Leu1040Ile) | gnomAD v4 |
| 22 | g.50720972C= | CA2411007950 | SHANK3 | c.2740C= (p.Leu914=) n.3324C= c.1792C= (p.Leu598=) c.1282C= (p.Leu428=) c.*1738C= (n.*1738C=) c.3136C= (p.Leu1046=) c.3118C= (p.Leu1040=) | |
| 22 | g.50720972C>G | CA515260812 | SHANK3 | c.2740C>G (p.Leu914Val) n.3324C>G c.1792C>G (p.Leu598Val) c.1282C>G (p.Leu428Val) c.*1738C>G (n.*1738C>G) c.3136C>G (p.Leu1046Val) c.3118C>G (p.Leu1040Val) | |
| 22 | g.50720972C>T | CA515260813 | SHANK3 | c.2740C>T (p.Leu914=) n.3324C>T c.1792C>T (p.Leu598=) c.1282C>T (p.Leu428=) c.*1738C>T (n.*1738C>T) c.3136C>T (p.Leu1046=) c.3118C>T (p.Leu1040=) | dbSNP gnomAD v4 |
| 22 | g.50720973T>A | CA515260814 | SHANK3 | c.2741T>A (p.Leu914Gln) n.3325T>A c.1793T>A (p.Leu598Gln) c.1283T>A (p.Leu428Gln) c.*1739T>A (n.*1739T>A) c.3137T>A (p.Leu1046Gln) c.3119T>A (p.Leu1040Gln) | |
| 22 | g.50720973T>C | CA515260815 | SHANK3 | c.2741T>C (p.Leu914Pro) n.3325T>C c.1793T>C (p.Leu598Pro) c.1283T>C (p.Leu428Pro) c.*1739T>C (n.*1739T>C) c.3137T>C (p.Leu1046Pro) c.3119T>C (p.Leu1040Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50720973T>G | CA515260816 | SHANK3 | c.2741T>G (p.Leu914Arg) n.3325T>G c.1793T>G (p.Leu598Arg) c.1283T>G (p.Leu428Arg) c.*1739T>G (n.*1739T>G) c.3137T>G (p.Leu1046Arg) c.3119T>G (p.Leu1040Arg) | |
| 22 | g.50720973T= | CA2411007951 | SHANK3 | c.2741T= (p.Leu914=) n.3325T= c.1793T= (p.Leu598=) c.1283T= (p.Leu428=) c.*1739T= (n.*1739T=) c.3137T= (p.Leu1046=) c.3119T= (p.Leu1040=) | |
| 22 | g.50720974A= | CA2411007952 | SHANK3 | c.2742A= (p.Leu914=) n.3326A= c.1794A= (p.Leu598=) c.1284A= (p.Leu428=) c.*1740A= (n.*1740A=) c.3138A= (p.Leu1046=) c.3120A= (p.Leu1040=) | |
| 22 | g.50720974A>C | CA515260817 | SHANK3 | c.2742A>C (p.Leu914=) n.3326A>C c.1794A>C (p.Leu598=) c.1284A>C (p.Leu428=) c.*1740A>C (n.*1740A>C) c.3138A>C (p.Leu1046=) c.3120A>C (p.Leu1040=) | |
| 22 | g.50720974A>G | CA515260818 | SHANK3 | c.2742A>G (p.Leu914=) n.3326A>G c.1794A>G (p.Leu598=) c.1284A>G (p.Leu428=) c.*1740A>G (n.*1740A>G) c.3138A>G (p.Leu1046=) c.3120A>G (p.Leu1040=) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 22 | g.50720974A>T | CA515260819 | SHANK3 | c.2742A>T (p.Leu914=) n.3326A>T c.1794A>T (p.Leu598=) c.1284A>T (p.Leu428=) c.*1740A>T (n.*1740A>T) c.3138A>T (p.Leu1046=) c.3120A>T (p.Leu1040=) | |
| 22 | g.50720975C>A | CA515260820 | SHANK3 | c.2743C>A (p.Gln915Lys) n.3327C>A c.1795C>A (p.Gln599Lys) c.1285C>A (p.Gln429Lys) c.*1741C>A (n.*1741C>A) c.3139C>A (p.Gln1047Lys) c.3121C>A (p.Gln1041Lys) | |
| 22 | g.50720975C>G | CA515260821 | SHANK3 | c.2743C>G (p.Gln915Glu) n.3327C>G c.1795C>G (p.Gln599Glu) c.1285C>G (p.Gln429Glu) c.*1741C>G (n.*1741C>G) c.3139C>G (p.Gln1047Glu) c.3121C>G (p.Gln1041Glu) | |
| 22 | g.50720975C>T | CA515260822 | SHANK3 | c.2743C>T (p.Gln915Ter) n.3327C>T c.1795C>T (p.Gln599Ter) c.1285C>T (p.Gln429Ter) c.*1741C>T (n.*1741C>T) c.3139C>T (p.Gln1047Ter) c.3121C>T (p.Gln1041Ter) | gnomAD v4 |
| 22 | g.50720976A>C | CA515260825 | SHANK3 | c.2744A>C (p.Gln915Pro) n.3328A>C c.1796A>C (p.Gln599Pro) c.1286A>C (p.Gln429Pro) c.*1742A>C (n.*1742A>C) c.3140A>C (p.Gln1047Pro) c.3122A>C (p.Gln1041Pro) | |
| 22 | g.50720976A>G | CA515260824 | SHANK3 | c.2744A>G (p.Gln915Arg) n.3328A>G c.1796A>G (p.Gln599Arg) c.1286A>G (p.Gln429Arg) c.*1742A>G (n.*1742A>G) c.3140A>G (p.Gln1047Arg) c.3122A>G (p.Gln1041Arg) | |
| 22 | g.50720976A>T | CA515260823 | SHANK3 | c.2744A>T (p.Gln915Leu) n.3328A>T c.1796A>T (p.Gln599Leu) c.1286A>T (p.Gln429Leu) c.*1742A>T (n.*1742A>T) c.3140A>T (p.Gln1047Leu) c.3122A>T (p.Gln1041Leu) | |
| 22 | g.50720977G>A | CA515260828 | SHANK3 | c.2745G>A (p.Gln915=) n.3329G>A c.1797G>A (p.Gln599=) c.1287G>A (p.Gln429=) c.*1743G>A (n.*1743G>A) c.3141G>A (p.Gln1047=) c.3123G>A (p.Gln1041=) | |
| 22 | g.50720977G>C | CA515260826 | SHANK3 | c.2745G>C (p.Gln915His) n.3329G>C c.1797G>C (p.Gln599His) c.1287G>C (p.Gln429His) c.*1743G>C (n.*1743G>C) c.3141G>C (p.Gln1047His) c.3123G>C (p.Gln1041His) | |
| 22 | g.50720977G>T | CA515260827 | SHANK3 | c.2745G>T (p.Gln915His) n.3329G>T c.1797G>T (p.Gln599His) c.1287G>T (p.Gln429His) c.*1743G>T (n.*1743G>T) c.3141G>T (p.Gln1047His) c.3123G>T (p.Gln1041His) | gnomAD v4 |
| 22 | g.50720978C>A | CA515260829 | SHANK3 | c.2746C>A (p.Pro916Thr) n.3330C>A c.1798C>A (p.Pro600Thr) c.1288C>A (p.Pro430Thr) c.*1744C>A (n.*1744C>A) c.3142C>A (p.Pro1048Thr) c.3124C>A (p.Pro1042Thr) | |
| 22 | g.50720978C>G | CA515260830 | SHANK3 | c.2746C>G (p.Pro916Ala) n.3330C>G c.1798C>G (p.Pro600Ala) c.1288C>G (p.Pro430Ala) c.*1744C>G (n.*1744C>G) c.3142C>G (p.Pro1048Ala) c.3124C>G (p.Pro1042Ala) | |
| 22 | g.50720978C>T | CA515260831 | SHANK3 | c.2746C>T (p.Pro916Ser) n.3330C>T c.1798C>T (p.Pro600Ser) c.1288C>T (p.Pro430Ser) c.*1744C>T (n.*1744C>T) c.3142C>T (p.Pro1048Ser) c.3124C>T (p.Pro1042Ser) | gnomAD v4 |
| 22 | g.50720979C>A | CA515260834 | SHANK3 | c.2747C>A (p.Pro916His) n.3331C>A c.1799C>A (p.Pro600His) c.1289C>A (p.Pro430His) c.*1745C>A (n.*1745C>A) c.3143C>A (p.Pro1048His) c.3125C>A (p.Pro1042His) | gnomAD v4 |
| 22 | g.50720979C= | CA2411007953 | SHANK3 | c.2747C= (p.Pro916=) n.3331C= c.1799C= (p.Pro600=) c.1289C= (p.Pro430=) c.*1745C= (n.*1745C=) c.3143C= (p.Pro1048=) c.3125C= (p.Pro1042=) | |
| 22 | g.50720979C>G | CA515260833 | SHANK3 | c.2747C>G (p.Pro916Arg) n.3331C>G c.1799C>G (p.Pro600Arg) c.1289C>G (p.Pro430Arg) c.*1745C>G (n.*1745C>G) c.3143C>G (p.Pro1048Arg) c.3125C>G (p.Pro1042Arg) | |
| 22 | g.50720979C>T | CA515260832 | SHANK3 | c.2747C>T (p.Pro916Leu) n.3331C>T c.1799C>T (p.Pro600Leu) c.1289C>T (p.Pro430Leu) c.*1745C>T (n.*1745C>T) c.3143C>T (p.Pro1048Leu) c.3125C>T (p.Pro1042Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50720980C>A | CA515260835 | SHANK3 | c.2748C>A (p.Pro916=) n.3332C>A c.1800C>A (p.Pro600=) c.1290C>A (p.Pro430=) c.*1746C>A (n.*1746C>A) c.3144C>A (p.Pro1048=) c.3126C>A (p.Pro1042=) | gnomAD v4 |
| 22 | g.50720980C= | CA2411007954 | SHANK3 | c.2748C= (p.Pro916=) n.3332C= c.1800C= (p.Pro600=) c.1290C= (p.Pro430=) c.*1746C= (n.*1746C=) c.3144C= (p.Pro1048=) c.3126C= (p.Pro1042=) | |
| 22 | g.50720980C>G | CA515260836 | SHANK3 | c.2748C>G (p.Pro916=) n.3332C>G c.1800C>G (p.Pro600=) c.1290C>G (p.Pro430=) c.*1746C>G (n.*1746C>G) c.3144C>G (p.Pro1048=) c.3126C>G (p.Pro1042=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50720980C>T | CA10325963 | SHANK3 | c.2748C>T (p.Pro916=) n.3332C>T c.1800C>T (p.Pro600=) c.1290C>T (p.Pro430=) c.*1746C>T (n.*1746C>T) c.3144C>T (p.Pro1048=) c.3126C>T (p.Pro1042=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720981del | CA2657583422 | SHANK3 | c.2749del (p.Ser917ProfsTer28) n.3333del c.1801del (p.Ser601ProfsTer28) c.1291del (p.Ser431ProfsTer28) c.*1747del (n.*1747del) c.3145del (p.Ser1049ProfsTer28) c.3127del (p.Ser1043ProfsTer28) | gnomAD v4 |
| 22 | g.50720981T>A | CA515260837 | SHANK3 | c.2749T>A (p.Ser917Thr) n.3333T>A c.1801T>A (p.Ser601Thr) c.1291T>A (p.Ser431Thr) c.*1747T>A (n.*1747T>A) c.3145T>A (p.Ser1049Thr) c.3127T>A (p.Ser1043Thr) | |
| 22 | g.50720981T>C | CA515260838 | SHANK3 | c.2749T>C (p.Ser917Pro) n.3333T>C c.1801T>C (p.Ser601Pro) c.1291T>C (p.Ser431Pro) c.*1747T>C (n.*1747T>C) c.3145T>C (p.Ser1049Pro) c.3127T>C (p.Ser1043Pro) | |
| 22 | g.50720981T>G | CA515260839 | SHANK3 | c.2749T>G (p.Ser917Ala) n.3333T>G c.1801T>G (p.Ser601Ala) c.1291T>G (p.Ser431Ala) c.*1747T>G (n.*1747T>G) c.3145T>G (p.Ser1049Ala) c.3127T>G (p.Ser1043Ala) | |
| 22 | g.50720982C>A | CA515260840 | SHANK3 | c.2750C>A (p.Ser917Tyr) n.3334C>A c.1802C>A (p.Ser601Tyr) c.1292C>A (p.Ser431Tyr) c.*1748C>A (n.*1748C>A) c.3146C>A (p.Ser1049Tyr) c.3128C>A (p.Ser1043Tyr) | |
| 22 | g.50720982C= | CA2411007955 | SHANK3 | c.2750C= (p.Ser917=) n.3334C= c.1802C= (p.Ser601=) c.1292C= (p.Ser431=) c.*1748C= (n.*1748C=) c.3146C= (p.Ser1049=) c.3128C= (p.Ser1043=) | |
| 22 | g.50720982C>G | CA515260842 | SHANK3 | c.2750C>G (p.Ser917Cys) n.3334C>G c.1802C>G (p.Ser601Cys) c.1292C>G (p.Ser431Cys) c.*1748C>G (n.*1748C>G) c.3146C>G (p.Ser1049Cys) c.3128C>G (p.Ser1043Cys) | dbSNP |
| 22 | g.50720982C>T | CA515260841 | SHANK3 | c.2750C>T (p.Ser917Phe) n.3334C>T c.1802C>T (p.Ser601Phe) c.1292C>T (p.Ser431Phe) c.*1748C>T (n.*1748C>T) c.3146C>T (p.Ser1049Phe) c.3128C>T (p.Ser1043Phe) | ClinVar dbSNP |
| 22 | g.50720983C>A | CA515260843 | SHANK3 | c.2751C>A (p.Ser917=) n.3335C>A c.1803C>A (p.Ser601=) c.1293C>A (p.Ser431=) c.*1749C>A (n.*1749C>A) c.3147C>A (p.Ser1049=) c.3129C>A (p.Ser1043=) | gnomAD v4 |
| 22 | g.50720983C= | CA2411007956 | SHANK3 | c.2751C= (p.Ser917=) n.3335C= c.1803C= (p.Ser601=) c.1293C= (p.Ser431=) c.*1749C= (n.*1749C=) c.3147C= (p.Ser1049=) c.3129C= (p.Ser1043=) | |
| 22 | g.50720983C>G | CA10325964 | SHANK3 | c.2751C>G (p.Ser917=) n.3335C>G c.1803C>G (p.Ser601=) c.1293C>G (p.Ser431=) c.*1749C>G (n.*1749C>G) c.3147C>G (p.Ser1049=) c.3129C>G (p.Ser1043=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720983C>T | CA515260844 | SHANK3 | c.2751C>T (p.Ser917=) n.3335C>T c.1803C>T (p.Ser601=) c.1293C>T (p.Ser431=) c.*1749C>T (n.*1749C>T) c.3147C>T (p.Ser1049=) c.3129C>T (p.Ser1043=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50720984C>A | CA515260845 | SHANK3 | c.2752C>A (p.Arg918Ser) n.3336C>A c.1804C>A (p.Arg602Ser) c.1294C>A (p.Arg432Ser) c.*1750C>A (n.*1750C>A) c.3148C>A (p.Arg1050Ser) c.3130C>A (p.Arg1044Ser) | gnomAD v4 |
| 22 | g.50720984C= | CA2411007957 | SHANK3 | c.2752C= (p.Arg918=) n.3336C= c.1804C= (p.Arg602=) c.1294C= (p.Arg432=) c.*1750C= (n.*1750C=) c.3148C= (p.Arg1050=) c.3130C= (p.Arg1044=) | |
| 22 | g.50720984C>G | CA515260846 | SHANK3 | c.2752C>G (p.Arg918Gly) n.3336C>G c.1804C>G (p.Arg602Gly) c.1294C>G (p.Arg432Gly) c.*1750C>G (n.*1750C>G) c.3148C>G (p.Arg1050Gly) c.3130C>G (p.Arg1044Gly) | |
| 22 | g.50720984C>T | CA515260847 | SHANK3 | c.2752C>T (p.Arg918Cys) n.3336C>T c.1804C>T (p.Arg602Cys) c.1294C>T (p.Arg432Cys) c.*1750C>T (n.*1750C>T) c.3148C>T (p.Arg1050Cys) c.3130C>T (p.Arg1044Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50720985G>A | CA515260848 | SHANK3 | c.2753G>A (p.Arg918His) n.3337G>A c.1805G>A (p.Arg602His) c.1295G>A (p.Arg432His) c.*1751G>A (n.*1751G>A) c.3149G>A (p.Arg1050His) c.3131G>A (p.Arg1044His) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50720985G>C | CA515260849 | SHANK3 | c.2753G>C (p.Arg918Pro) n.3337G>C c.1805G>C (p.Arg602Pro) c.1295G>C (p.Arg432Pro) c.*1751G>C (n.*1751G>C) c.3149G>C (p.Arg1050Pro) c.3131G>C (p.Arg1044Pro) | |
| 22 | g.50720985G>T | CA515260850 | SHANK3 | c.2753G>T (p.Arg918Leu) n.3337G>T c.1805G>T (p.Arg602Leu) c.1295G>T (p.Arg432Leu) c.*1751G>T (n.*1751G>T) c.3149G>T (p.Arg1050Leu) c.3131G>T (p.Arg1044Leu) | gnomAD v4 |
| 22 | g.50720986C>A | CA515260851 | SHANK3 | c.2754C>A (p.Arg918=) n.3338C>A c.1806C>A (p.Arg602=) c.1296C>A (p.Arg432=) c.*1752C>A (n.*1752C>A) c.3150C>A (p.Arg1050=) c.3132C>A (p.Arg1044=) | |
| 22 | g.50720986C= | CA2411007958 | SHANK3 | c.2754C= (p.Arg918=) n.3338C= c.1806C= (p.Arg602=) c.1296C= (p.Arg432=) c.*1752C= (n.*1752C=) c.3150C= (p.Arg1050=) c.3132C= (p.Arg1044=) | |
| 22 | g.50720986C>G | CA515260852 | SHANK3 | c.2754C>G (p.Arg918=) n.3338C>G c.1806C>G (p.Arg602=) c.1296C>G (p.Arg432=) c.*1752C>G (n.*1752C>G) c.3150C>G (p.Arg1050=) c.3132C>G (p.Arg1044=) | |
| 22 | g.50720986C>T | CA10325965 | SHANK3 | c.2754C>T (p.Arg918=) n.3338C>T c.1806C>T (p.Arg602=) c.1296C>T (p.Arg432=) c.*1752C>T (n.*1752C>T) c.3150C>T (p.Arg1050=) c.3132C>T (p.Arg1044=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50720987T>A | CA515260854 | SHANK3 | c.2755T>A (p.Ser919Thr) n.3339T>A c.1807T>A (p.Ser603Thr) c.1297T>A (p.Ser433Thr) c.*1753T>A (n.*1753T>A) c.3151T>A (p.Ser1051Thr) c.3133T>A (p.Ser1045Thr) | |
| 22 | g.50720987T>C | CA515260855 | SHANK3 | c.2755T>C (p.Ser919Pro) n.3339T>C c.1807T>C (p.Ser603Pro) c.1297T>C (p.Ser433Pro) c.*1753T>C (n.*1753T>C) c.3151T>C (p.Ser1051Pro) c.3133T>C (p.Ser1045Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50720987T>G | CA515260853 | SHANK3 | c.2755T>G (p.Ser919Ala) n.3339T>G c.1807T>G (p.Ser603Ala) c.1297T>G (p.Ser433Ala) c.*1753T>G (n.*1753T>G) c.3151T>G (p.Ser1051Ala) c.3133T>G (p.Ser1045Ala) | |
| 22 | g.50720987T= | CA2411007959 | SHANK3 | c.2755T= (p.Ser919=) n.3339T= c.1807T= (p.Ser603=) c.1297T= (p.Ser433=) c.*1753T= (n.*1753T=) c.3151T= (p.Ser1051=) c.3133T= (p.Ser1045=) | |
| 22 | g.50720988C>A | CA515260856 | SHANK3 | c.2756C>A (p.Ser919Tyr) n.3340C>A c.1808C>A (p.Ser603Tyr) c.1298C>A (p.Ser433Tyr) c.*1754C>A (n.*1754C>A) c.3152C>A (p.Ser1051Tyr) c.3134C>A (p.Ser1045Tyr) | |
| 22 | g.50720988C>G | CA515260857 | SHANK3 | c.2756C>G (p.Ser919Cys) n.3340C>G c.1808C>G (p.Ser603Cys) c.1298C>G (p.Ser433Cys) c.*1754C>G (n.*1754C>G) c.3152C>G (p.Ser1051Cys) c.3134C>G (p.Ser1045Cys) | gnomAD v4 |
| 22 | g.50720988C>T | CA515260858 | SHANK3 | c.2756C>T (p.Ser919Phe) n.3340C>T c.1808C>T (p.Ser603Phe) c.1298C>T (p.Ser433Phe) c.*1754C>T (n.*1754C>T) c.3152C>T (p.Ser1051Phe) c.3134C>T (p.Ser1045Phe) | |
| 22 | g.50720989C>A | CA515260859 | SHANK3 | c.2757C>A (p.Ser919=) n.3341C>A c.1809C>A (p.Ser603=) c.1299C>A (p.Ser433=) c.*1755C>A (n.*1755C>A) c.3153C>A (p.Ser1051=) c.3135C>A (p.Ser1045=) | gnomAD v4 |
| 22 | g.50720989C= | CA2411007960 | SHANK3 | c.2757C= (p.Ser919=) n.3341C= c.1809C= (p.Ser603=) c.1299C= (p.Ser433=) c.*1755C= (n.*1755C=) c.3153C= (p.Ser1051=) c.3135C= (p.Ser1045=) | |
| 22 | g.50720989C>G | CA515260860 | SHANK3 | c.2757C>G (p.Ser919=) n.3341C>G c.1809C>G (p.Ser603=) c.1299C>G (p.Ser433=) c.*1755C>G (n.*1755C>G) c.3153C>G (p.Ser1051=) c.3135C>G (p.Ser1045=) | |
| 22 | g.50720989C>T | CA10325966 | SHANK3 | c.2757C>T (p.Ser919=) n.3341C>T c.1809C>T (p.Ser603=) c.1299C>T (p.Ser433=) c.*1755C>T (n.*1755C>T) c.3153C>T (p.Ser1051=) c.3135C>T (p.Ser1045=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720990A>C | CA515260863 | SHANK3 | c.2758A>C (p.Ile920Leu) n.3342A>C c.1810A>C (p.Ile604Leu) c.1300A>C (p.Ile434Leu) c.*1756A>C (n.*1756A>C) c.3154A>C (p.Ile1052Leu) c.3136A>C (p.Ile1046Leu) | |
| 22 | g.50720990A>G | CA515260862 | SHANK3 | c.2758A>G (p.Ile920Val) n.3342A>G c.1810A>G (p.Ile604Val) c.1300A>G (p.Ile434Val) c.*1756A>G (n.*1756A>G) c.3154A>G (p.Ile1052Val) c.3136A>G (p.Ile1046Val) | |
| 22 | g.50720990A>T | CA515260861 | SHANK3 | c.2758A>T (p.Ile920Phe) n.3342A>T c.1810A>T (p.Ile604Phe) c.1300A>T (p.Ile434Phe) c.*1756A>T (n.*1756A>T) c.3154A>T (p.Ile1052Phe) c.3136A>T (p.Ile1046Phe) | gnomAD v4 |
| 22 | g.50720991T>A | CA515260864 | SHANK3 | c.2759T>A (p.Ile920Asn) n.3343T>A c.1811T>A (p.Ile604Asn) c.1301T>A (p.Ile434Asn) c.*1757T>A (n.*1757T>A) c.3155T>A (p.Ile1052Asn) c.3137T>A (p.Ile1046Asn) | |
| 22 | g.50720991T>C | CA515260865 | SHANK3 | c.2759T>C (p.Ile920Thr) n.3343T>C c.1811T>C (p.Ile604Thr) c.1301T>C (p.Ile434Thr) c.*1757T>C (n.*1757T>C) c.3155T>C (p.Ile1052Thr) c.3137T>C (p.Ile1046Thr) | |
| 22 | g.50720991T>G | CA515260866 | SHANK3 | c.2759T>G (p.Ile920Ser) n.3343T>G c.1811T>G (p.Ile604Ser) c.1301T>G (p.Ile434Ser) c.*1757T>G (n.*1757T>G) c.3155T>G (p.Ile1052Ser) c.3137T>G (p.Ile1046Ser) | |
| 22 | g.50720992C>A | CA515260867 | SHANK3 | c.2760C>A (p.Ile920=) n.3344C>A c.1812C>A (p.Ile604=) c.1302C>A (p.Ile434=) c.*1758C>A (n.*1758C>A) c.3156C>A (p.Ile1052=) c.3138C>A (p.Ile1046=) | |
| 22 | g.50720992C= | CA2411007961 | SHANK3 | c.2760C= (p.Ile920=) n.3344C= c.1812C= (p.Ile604=) c.1302C= (p.Ile434=) c.*1758C= (n.*1758C=) c.3156C= (p.Ile1052=) c.3138C= (p.Ile1046=) | |
| 22 | g.50720992C>G | CA515260868 | SHANK3 | c.2760C>G (p.Ile920Met) n.3344C>G c.1812C>G (p.Ile604Met) c.1302C>G (p.Ile434Met) c.*1758C>G (n.*1758C>G) c.3156C>G (p.Ile1052Met) c.3138C>G (p.Ile1046Met) | |
| 22 | g.50720992C>T | CA515260869 | SHANK3 | c.2760C>T (p.Ile920=) n.3344C>T c.1812C>T (p.Ile604=) c.1302C>T (p.Ile434=) c.*1758C>T (n.*1758C>T) c.3156C>T (p.Ile1052=) c.3138C>T (p.Ile1046=) | dbSNP gnomAD v4 |
| 22 | g.50720993G>A | CA515260870 | SHANK3 | c.2761G>A (p.Asp921Asn) n.3345G>A c.1813G>A (p.Asp605Asn) c.1303G>A (p.Asp435Asn) c.*1759G>A (n.*1759G>A) c.3157G>A (p.Asp1053Asn) c.3139G>A (p.Asp1047Asn) | gnomAD v4 |
| 22 | g.50720993G>C | CA515260872 | SHANK3 | c.2761G>C (p.Asp921His) n.3345G>C c.1813G>C (p.Asp605His) c.1303G>C (p.Asp435His) c.*1759G>C (n.*1759G>C) c.3157G>C (p.Asp1053His) c.3139G>C (p.Asp1047His) | |
| 22 | g.50720993G>T | CA515260871 | SHANK3 | c.2761G>T (p.Asp921Tyr) n.3345G>T c.1813G>T (p.Asp605Tyr) c.1303G>T (p.Asp435Tyr) c.*1759G>T (n.*1759G>T) c.3157G>T (p.Asp1053Tyr) c.3139G>T (p.Asp1047Tyr) | gnomAD v4 |
| 22 | g.50720994A>C | CA515260873 | SHANK3 | c.2762A>C (p.Asp921Ala) n.3346A>C c.1814A>C (p.Asp605Ala) c.1304A>C (p.Asp435Ala) c.*1760A>C (n.*1760A>C) c.3158A>C (p.Asp1053Ala) c.3140A>C (p.Asp1047Ala) | |
| 22 | g.50720994A>G | CA515260874 | SHANK3 | c.2762A>G (p.Asp921Gly) n.3346A>G c.1814A>G (p.Asp605Gly) c.1304A>G (p.Asp435Gly) c.*1760A>G (n.*1760A>G) c.3158A>G (p.Asp1053Gly) c.3140A>G (p.Asp1047Gly) | |
| 22 | g.50720994A>T | CA515260875 | SHANK3 | c.2762A>T (p.Asp921Val) n.3346A>T c.1814A>T (p.Asp605Val) c.1304A>T (p.Asp435Val) c.*1760A>T (n.*1760A>T) c.3158A>T (p.Asp1053Val) c.3140A>T (p.Asp1047Val) | |
| 22 | g.50720995C>A | CA515260876 | SHANK3 | c.2763C>A (p.Asp921Glu) n.3347C>A c.1815C>A (p.Asp605Glu) c.1305C>A (p.Asp435Glu) c.*1761C>A (n.*1761C>A) c.3159C>A (p.Asp1053Glu) c.3141C>A (p.Asp1047Glu) | gnomAD v4 |
| 22 | g.50720995C= | CA2411007962 | SHANK3 | c.2763C= (p.Asp921=) n.3347C= c.1815C= (p.Asp605=) c.1305C= (p.Asp435=) c.*1761C= (n.*1761C=) c.3159C= (p.Asp1053=) c.3141C= (p.Asp1047=) | |
| 22 | g.50720995C>G | CA515260877 | SHANK3 | c.2763C>G (p.Asp921Glu) n.3347C>G c.1815C>G (p.Asp605Glu) c.1305C>G (p.Asp435Glu) c.*1761C>G (n.*1761C>G) c.3159C>G (p.Asp1053Glu) c.3141C>G (p.Asp1047Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720995C>T | CA10325967 | SHANK3 | c.2763C>T (p.Asp921=) n.3347C>T c.1815C>T (p.Asp605=) c.1305C>T (p.Asp435=) c.*1761C>T (n.*1761C>T) c.3159C>T (p.Asp1053=) c.3141C>T (p.Asp1047=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720996del | CA2573158312 | SHANK3 | c.2764del (p.Glu922SerfsTer23) n.3348del c.1816del (p.Glu606SerfsTer23) c.1306del (p.Glu436SerfsTer23) c.*1762del (n.*1762del) c.3160del (p.Glu1054SerfsTer23) c.3142del (p.Glu1048SerfsTer23) | ClinVar dbSNP |
| 22 | g.50720996G>A | CA515260878 | SHANK3 | c.2764G>A (p.Glu922Lys) n.3348G>A c.1816G>A (p.Glu606Lys) c.1306G>A (p.Glu436Lys) c.*1762G>A (n.*1762G>A) c.3160G>A (p.Glu1054Lys) c.3142G>A (p.Glu1048Lys) | gnomAD v4 |
| 22 | g.50720996G>C | CA515260879 | SHANK3 | c.2764G>C (p.Glu922Gln) n.3348G>C c.1816G>C (p.Glu606Gln) c.1306G>C (p.Glu436Gln) c.*1762G>C (n.*1762G>C) c.3160G>C (p.Glu1054Gln) c.3142G>C (p.Glu1048Gln) | |
| 22 | g.50720996G>T | CA515260880 | SHANK3 | c.2764G>T (p.Glu922Ter) n.3348G>T c.1816G>T (p.Glu606Ter) c.1306G>T (p.Glu436Ter) c.*1762G>T (n.*1762G>T) c.3160G>T (p.Glu1054Ter) c.3142G>T (p.Glu1048Ter) | gnomAD v4 |
| 22 | g.50720997del | CA2580615344 | SHANK3 | c.2765del (p.Glu922GlyfsTer23) n.3349del c.1817del (p.Glu606GlyfsTer23) c.1307del (p.Glu436GlyfsTer23) c.*1763del (n.*1763del) c.3161del (p.Glu1054GlyfsTer23) c.3143del (p.Glu1048GlyfsTer23) | ClinVar |
| 22 | g.50720997A>C | CA515260881 | SHANK3 | c.2765A>C (p.Glu922Ala) n.3349A>C c.1817A>C (p.Glu606Ala) c.1307A>C (p.Glu436Ala) c.*1763A>C (n.*1763A>C) c.3161A>C (p.Glu1054Ala) c.3143A>C (p.Glu1048Ala) | |
| 22 | g.50720997A>G | CA515260882 | SHANK3 | c.2765A>G (p.Glu922Gly) n.3349A>G c.1817A>G (p.Glu606Gly) c.1307A>G (p.Glu436Gly) c.*1763A>G (n.*1763A>G) c.3161A>G (p.Glu1054Gly) c.3143A>G (p.Glu1048Gly) | |
| 22 | g.50720997A>T | CA515260883 | SHANK3 | c.2765A>T (p.Glu922Val) n.3349A>T c.1817A>T (p.Glu606Val) c.1307A>T (p.Glu436Val) c.*1763A>T (n.*1763A>T) c.3161A>T (p.Glu1054Val) c.3143A>T (p.Glu1048Val) | |
| 22 | g.50720998G>A | CA515260884 | SHANK3 | c.2766G>A (p.Glu922=) n.3350G>A c.1818G>A (p.Glu606=) c.1308G>A (p.Glu436=) c.*1764G>A (n.*1764G>A) c.3162G>A (p.Glu1054=) c.3144G>A (p.Glu1048=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50720998G>C | CA325578545 | SHANK3 | c.2766G>C (p.Glu922Asp) n.3350G>C c.1818G>C (p.Glu606Asp) c.1308G>C (p.Glu436Asp) c.*1764G>C (n.*1764G>C) c.3162G>C (p.Glu1054Asp) c.3144G>C (p.Glu1048Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720998G= | CA2411007963 | SHANK3 | c.2766G= (p.Glu922=) n.3350G= c.1818G= (p.Glu606=) c.1308G= (p.Glu436=) c.*1764G= (n.*1764G=) c.3162G= (p.Glu1054=) c.3144G= (p.Glu1048=) | |
| 22 | g.50720998G>T | CA515260885 | SHANK3 | c.2766G>T (p.Glu922Asp) n.3350G>T c.1818G>T (p.Glu606Asp) c.1308G>T (p.Glu436Asp) c.*1764G>T (n.*1764G>T) c.3162G>T (p.Glu1054Asp) c.3144G>T (p.Glu1048Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720999C>A | CA515260886 | SHANK3 | c.2767C>A (p.Arg923Ser) n.3351C>A c.1819C>A (p.Arg607Ser) c.1309C>A (p.Arg437Ser) c.*1765C>A (n.*1765C>A) c.3163C>A (p.Arg1055Ser) c.3145C>A (p.Arg1049Ser) | gnomAD v4 |
| 22 | g.50720999C>G | CA515260887 | SHANK3 | c.2767C>G (p.Arg923Gly) n.3351C>G c.1819C>G (p.Arg607Gly) c.1309C>G (p.Arg437Gly) c.*1765C>G (n.*1765C>G) c.3163C>G (p.Arg1055Gly) c.3145C>G (p.Arg1049Gly) | |
| 22 | g.50720999C>T | CA515260888 | SHANK3 | c.2767C>T (p.Arg923Cys) n.3351C>T c.1819C>T (p.Arg607Cys) c.1309C>T (p.Arg437Cys) c.*1765C>T (n.*1765C>T) c.3163C>T (p.Arg1055Cys) c.3145C>T (p.Arg1049Cys) | gnomAD v4 |
| 22 | g.50721000G>A | CA515260889 | SHANK3 | c.2768G>A (p.Arg923His) n.3352G>A c.1820G>A (p.Arg607His) c.1310G>A (p.Arg437His) c.*1766G>A (n.*1766G>A) c.3164G>A (p.Arg1055His) c.3146G>A (p.Arg1049His) | gnomAD v4 |
| 22 | g.50721000G>C | CA515260890 | SHANK3 | c.2768G>C (p.Arg923Pro) n.3352G>C c.1820G>C (p.Arg607Pro) c.1310G>C (p.Arg437Pro) c.*1766G>C (n.*1766G>C) c.3164G>C (p.Arg1055Pro) c.3146G>C (p.Arg1049Pro) | |
| 22 | g.50721000G>T | CA515260891 | SHANK3 | c.2768G>T (p.Arg923Leu) n.3352G>T c.1820G>T (p.Arg607Leu) c.1310G>T (p.Arg437Leu) c.*1766G>T (n.*1766G>T) c.3164G>T (p.Arg1055Leu) c.3146G>T (p.Arg1049Leu) | gnomAD v4 |
| 22 | g.50721001C>A | CA515260892 | SHANK3 | c.2769C>A (p.Arg923=) n.3353C>A c.1821C>A (p.Arg607=) c.1311C>A (p.Arg437=) c.*1767C>A (n.*1767C>A) c.3165C>A (p.Arg1055=) c.3147C>A (p.Arg1049=) | |
| 22 | g.50721001C= | CA2411007964 | SHANK3 | c.2769C= (p.Arg923=) n.3353C= c.1821C= (p.Arg607=) c.1311C= (p.Arg437=) c.*1767C= (n.*1767C=) c.3165C= (p.Arg1055=) c.3147C= (p.Arg1049=) | |
| 22 | g.50721001C>G | CA515260893 | SHANK3 | c.2769C>G (p.Arg923=) n.3353C>G c.1821C>G (p.Arg607=) c.1311C>G (p.Arg437=) c.*1767C>G (n.*1767C>G) c.3165C>G (p.Arg1055=) c.3147C>G (p.Arg1049=) | |
| 22 | g.50721001C>T | CA515260894 | SHANK3 | c.2769C>T (p.Arg923=) n.3353C>T c.1821C>T (p.Arg607=) c.1311C>T (p.Arg437=) c.*1767C>T (n.*1767C>T) c.3165C>T (p.Arg1055=) c.3147C>T (p.Arg1049=) | dbSNP |
| 22 | g.50721002C>A | CA515260895 | SHANK3 | c.2770C>A (p.Leu924Ile) n.3354C>A c.1822C>A (p.Leu608Ile) c.1312C>A (p.Leu438Ile) c.*1768C>A (n.*1768C>A) c.3166C>A (p.Leu1056Ile) c.3148C>A (p.Leu1050Ile) | |
| 22 | g.50721002C= | CA2411007965 | SHANK3 | c.2770C= (p.Leu924=) n.3354C= c.1822C= (p.Leu608=) c.1312C= (p.Leu438=) c.*1768C= (n.*1768C=) c.3166C= (p.Leu1056=) c.3148C= (p.Leu1050=) | |
| 22 | g.50721002C>G | CA515260896 | SHANK3 | c.2770C>G (p.Leu924Val) n.3354C>G c.1822C>G (p.Leu608Val) c.1312C>G (p.Leu438Val) c.*1768C>G (n.*1768C>G) c.3166C>G (p.Leu1056Val) c.3148C>G (p.Leu1050Val) | dbSNP |
| 22 | g.50721002C>T | CA325578549 | SHANK3 | c.2770C>T (p.Leu924Phe) n.3354C>T c.1822C>T (p.Leu608Phe) c.1312C>T (p.Leu438Phe) c.*1768C>T (n.*1768C>T) c.3166C>T (p.Leu1056Phe) c.3148C>T (p.Leu1050Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721003T>A | CA515260899 | SHANK3 | c.2771T>A (p.Leu924His) n.3355T>A c.1823T>A (p.Leu608His) c.1313T>A (p.Leu438His) c.*1769T>A (n.*1769T>A) c.3167T>A (p.Leu1056His) c.3149T>A (p.Leu1050His) | |
| 22 | g.50721003T>C | CA515260898 | SHANK3 | c.2771T>C (p.Leu924Pro) n.3355T>C c.1823T>C (p.Leu608Pro) c.1313T>C (p.Leu438Pro) c.*1769T>C (n.*1769T>C) c.3167T>C (p.Leu1056Pro) c.3149T>C (p.Leu1050Pro) | |
| 22 | g.50721003T>G | CA515260897 | SHANK3 | c.2771T>G (p.Leu924Arg) n.3355T>G c.1823T>G (p.Leu608Arg) c.1313T>G (p.Leu438Arg) c.*1769T>G (n.*1769T>G) c.3167T>G (p.Leu1056Arg) c.3149T>G (p.Leu1050Arg) | |
| 22 | g.50721004C>A | CA10325968 | SHANK3 | c.2772C>A (p.Leu924=) n.3356C>A c.1824C>A (p.Leu608=) c.1314C>A (p.Leu438=) c.*1770C>A (n.*1770C>A) c.3168C>A (p.Leu1056=) c.3150C>A (p.Leu1050=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721004C= | CA2411007966 | SHANK3 | c.2772C= (p.Leu924=) n.3356C= c.1824C= (p.Leu608=) c.1314C= (p.Leu438=) c.*1770C= (n.*1770C=) c.3168C= (p.Leu1056=) c.3150C= (p.Leu1050=) | |
| 22 | g.50721004C>G | CA515260900 | SHANK3 | c.2772C>G (p.Leu924=) n.3356C>G c.1824C>G (p.Leu608=) c.1314C>G (p.Leu438=) c.*1770C>G (n.*1770C>G) c.3168C>G (p.Leu1056=) c.3150C>G (p.Leu1050=) | |
| 22 | g.50721004C>T | CA10325969 | SHANK3 | c.2772C>T (p.Leu924=) n.3356C>T c.1824C>T (p.Leu608=) c.1314C>T (p.Leu438=) c.*1770C>T (n.*1770C>T) c.3168C>T (p.Leu1056=) c.3150C>T (p.Leu1050=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721005C>A | CA515260901 | SHANK3 | c.2773C>A (p.Leu925Met) n.3357C>A c.1825C>A (p.Leu609Met) c.1315C>A (p.Leu439Met) c.*1771C>A (n.*1771C>A) c.3169C>A (p.Leu1057Met) c.3151C>A (p.Leu1051Met) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721005C= | CA2411007967 | SHANK3 | c.2773C= (p.Leu925=) n.3357C= c.1825C= (p.Leu609=) c.1315C= (p.Leu439=) c.*1771C= (n.*1771C=) c.3169C= (p.Leu1057=) c.3151C= (p.Leu1051=) | |
| 22 | g.50721005C>G | CA515260902 | SHANK3 | c.2773C>G (p.Leu925Val) n.3357C>G c.1825C>G (p.Leu609Val) c.1315C>G (p.Leu439Val) c.*1771C>G (n.*1771C>G) c.3169C>G (p.Leu1057Val) c.3151C>G (p.Leu1051Val) | |
| 22 | g.50721005C>T | CA325578553 | SHANK3 | c.2773C>T (p.Leu925=) n.3357C>T c.1825C>T (p.Leu609=) c.1315C>T (p.Leu439=) c.*1771C>T (n.*1771C>T) c.3169C>T (p.Leu1057=) c.3151C>T (p.Leu1051=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721006T>A | CA515260903 | SHANK3 | c.2774T>A (p.Leu925Gln) n.3358T>A c.1826T>A (p.Leu609Gln) c.1316T>A (p.Leu439Gln) c.*1772T>A (n.*1772T>A) c.3170T>A (p.Leu1057Gln) c.3152T>A (p.Leu1051Gln) | |
| 22 | g.50721006T>C | CA515260904 | SHANK3 | c.2774T>C (p.Leu925Pro) n.3358T>C c.1826T>C (p.Leu609Pro) c.1316T>C (p.Leu439Pro) c.*1772T>C (n.*1772T>C) c.3170T>C (p.Leu1057Pro) c.3152T>C (p.Leu1051Pro) | ClinVar dbSNP |
| 22 | g.50721006T>G | CA515260905 | SHANK3 | c.2774T>G (p.Leu925Arg) n.3358T>G c.1826T>G (p.Leu609Arg) c.1316T>G (p.Leu439Arg) c.*1772T>G (n.*1772T>G) c.3170T>G (p.Leu1057Arg) c.3152T>G (p.Leu1051Arg) | |
| 22 | g.50721007G>A | CA515260906 | SHANK3 | c.2775G>A (p.Leu925=) n.3359G>A c.1827G>A (p.Leu609=) c.1317G>A (p.Leu439=) c.*1773G>A (n.*1773G>A) c.3171G>A (p.Leu1057=) c.3153G>A (p.Leu1051=) | gnomAD v4 |
| 22 | g.50721007G>C | CA515260907 | SHANK3 | c.2775G>C (p.Leu925=) n.3359G>C c.1827G>C (p.Leu609=) c.1317G>C (p.Leu439=) c.*1773G>C (n.*1773G>C) c.3171G>C (p.Leu1057=) c.3153G>C (p.Leu1051=) | |
| 22 | g.50721007G>T | CA515260908 | SHANK3 | c.2775G>T (p.Leu925=) n.3359G>T c.1827G>T (p.Leu609=) c.1317G>T (p.Leu439=) c.*1773G>T (n.*1773G>T) c.3171G>T (p.Leu1057=) c.3153G>T (p.Leu1051=) | gnomAD v4 |
| 22 | g.50721010del | CA2657583423 | SHANK3 | c.2778del (p.Thr927ProfsTer18) n.3362del c.1830del (p.Thr611ProfsTer18) c.1320del (p.Thr441ProfsTer18) c.*1776del (n.*1776del) c.3174del (p.Thr1059ProfsTer18) c.3156del (p.Thr1053ProfsTer18) | gnomAD v4 |
| 22 | g.50721008G>A | CA515260909 | SHANK3 | c.2776G>A (p.Gly926Arg) n.3360G>A c.1828G>A (p.Gly610Arg) c.1318G>A (p.Gly440Arg) c.*1774G>A (n.*1774G>A) c.3172G>A (p.Gly1058Arg) c.3154G>A (p.Gly1052Arg) | |
| 22 | g.50721008G>C | CA515260910 | SHANK3 | c.2776G>C (p.Gly926Arg) n.3360G>C c.1828G>C (p.Gly610Arg) c.1318G>C (p.Gly440Arg) c.*1774G>C (n.*1774G>C) c.3172G>C (p.Gly1058Arg) c.3154G>C (p.Gly1052Arg) | |
| 22 | g.50721008G= | CA2411007968 | SHANK3 | c.2776G= (p.Gly926=) n.3360G= c.1828G= (p.Gly610=) c.1318G= (p.Gly440=) c.*1774G= (n.*1774G=) c.3172G= (p.Gly1058=) c.3154G= (p.Gly1052=) | |
| 22 | g.50721008G>T | CA10325970 | SHANK3 | c.2776G>T (p.Gly926Trp) n.3360G>T c.1828G>T (p.Gly610Trp) c.1318G>T (p.Gly440Trp) c.*1774G>T (n.*1774G>T) c.3172G>T (p.Gly1058Trp) c.3154G>T (p.Gly1052Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721009G>A | CA515260911 | SHANK3 | c.2777G>A (p.Gly926Glu) n.3361G>A c.1829G>A (p.Gly610Glu) c.1319G>A (p.Gly440Glu) c.*1775G>A (n.*1775G>A) c.3173G>A (p.Gly1058Glu) c.3155G>A (p.Gly1052Glu) | ClinVar |
| 22 | g.50721009G>C | CA515260913 | SHANK3 | c.2777G>C (p.Gly926Ala) n.3361G>C c.1829G>C (p.Gly610Ala) c.1319G>C (p.Gly440Ala) c.*1775G>C (n.*1775G>C) c.3173G>C (p.Gly1058Ala) c.3155G>C (p.Gly1052Ala) | |
| 22 | g.50721009G>T | CA515260912 | SHANK3 | c.2777G>T (p.Gly926Val) n.3361G>T c.1829G>T (p.Gly610Val) c.1319G>T (p.Gly440Val) c.*1775G>T (n.*1775G>T) c.3173G>T (p.Gly1058Val) c.3155G>T (p.Gly1052Val) | |
| 22 | g.50721010G>A | CA10325971 | SHANK3 | c.2778G>A (p.Gly926=) n.3362G>A c.1830G>A (p.Gly610=) c.1320G>A (p.Gly440=) c.*1776G>A (n.*1776G>A) c.3174G>A (p.Gly1058=) c.3156G>A (p.Gly1052=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721010G>C | CA515260915 | SHANK3 | c.2778G>C (p.Gly926=) n.3362G>C c.1830G>C (p.Gly610=) c.1320G>C (p.Gly440=) c.*1776G>C (n.*1776G>C) c.3174G>C (p.Gly1058=) c.3156G>C (p.Gly1052=) | |
| 22 | g.50721010G= | CA2411007969 | SHANK3 | c.2778G= (p.Gly926=) n.3362G= c.1830G= (p.Gly610=) c.1320G= (p.Gly440=) c.*1776G= (n.*1776G=) c.3174G= (p.Gly1058=) c.3156G= (p.Gly1052=) | |
| 22 | g.50721010G>T | CA515260914 | SHANK3 | c.2778G>T (p.Gly926=) n.3362G>T c.1830G>T (p.Gly610=) c.1320G>T (p.Gly440=) c.*1776G>T (n.*1776G>T) c.3174G>T (p.Gly1058=) c.3156G>T (p.Gly1052=) | gnomAD v4 |
| 22 | g.50721011A= | CA2411007970 | SHANK3 | c.2779A= (p.Thr927=) n.3363A= c.1831A= (p.Thr611=) c.1321A= (p.Thr441=) c.*1777A= (n.*1777A=) c.3175A= (p.Thr1059=) c.3157A= (p.Thr1053=) | |
| 22 | g.50721011A>C | CA515260916 | SHANK3 | c.2779A>C (p.Thr927Pro) n.3363A>C c.1831A>C (p.Thr611Pro) c.1321A>C (p.Thr441Pro) c.*1777A>C (n.*1777A>C) c.3175A>C (p.Thr1059Pro) c.3157A>C (p.Thr1053Pro) | dbSNP |
| 22 | g.50721011A>G | CA515260917 | SHANK3 | c.2779A>G (p.Thr927Ala) n.3363A>G c.1831A>G (p.Thr611Ala) c.1321A>G (p.Thr441Ala) c.*1777A>G (n.*1777A>G) c.3175A>G (p.Thr1059Ala) c.3157A>G (p.Thr1053Ala) | gnomAD v4 |
| 22 | g.50721011A>T | CA515260918 | SHANK3 | c.2779A>T (p.Thr927Ser) n.3363A>T c.1831A>T (p.Thr611Ser) c.1321A>T (p.Thr441Ser) c.*1777A>T (n.*1777A>T) c.3175A>T (p.Thr1059Ser) c.3157A>T (p.Thr1053Ser) | |
| 22 | g.50721011_50721023delinsACCGGCCCCACCG | CA2411007971 | SHANK3 | c.2779_2791delinsACCGGCCCCACCG (p.Thr927=) n.3363_3375delinsACCGGCCCCACCG c.1831_1843delinsACCGGCCCCACCG (p.Thr611=) c.1321_1333delinsACCGGCCCCACCG (p.Thr441=) c.*1777_*1789delinsACCGGCCCCACCG (n.*1777_*1789delinsACCGGCCCCACCG) c.3175_3187delinsACCGGCCCCACCG (p.Thr1059=) c.3157_3169delinsACCGGCCCCACCG (p.Thr1053=) | |
| 22 | g.50721012C>A | CA515260919 | SHANK3 | c.2780C>A (p.Thr927Asn) n.3364C>A c.1832C>A (p.Thr611Asn) c.1322C>A (p.Thr441Asn) c.*1778C>A (n.*1778C>A) c.3176C>A (p.Thr1059Asn) c.3158C>A (p.Thr1053Asn) | |
| 22 | g.50721012C= | CA2411007973 | SHANK3 | c.2780C= (p.Thr927=) n.3364C= c.1832C= (p.Thr611=) c.1322C= (p.Thr441=) c.*1778C= (n.*1778C=) c.3176C= (p.Thr1059=) c.3158C= (p.Thr1053=) | |
| 22 | g.50721012C>G | CA10325972 | SHANK3 | c.2780C>G (p.Thr927Ser) n.3364C>G c.1832C>G (p.Thr611Ser) c.1322C>G (p.Thr441Ser) c.*1778C>G (n.*1778C>G) c.3176C>G (p.Thr1059Ser) c.3158C>G (p.Thr1053Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721012C>T | CA515260920 | SHANK3 | c.2780C>T (p.Thr927Ile) n.3364C>T c.1832C>T (p.Thr611Ile) c.1322C>T (p.Thr441Ile) c.*1778C>T (n.*1778C>T) c.3176C>T (p.Thr1059Ile) c.3158C>T (p.Thr1053Ile) | gnomAD v4 |
| 22 | g.50721018_50721029del | CA2411007972 | SHANK3 | c.2786_2797del (p.Pro929_Gly932del) n.3370_3381del c.1838_1849del (p.Pro613_Gly616del) c.1328_1339del (p.Pro443_Gly446del) c.*1784_*1795del (n.*1784_*1795del) c.3182_3193del (p.Pro1061_Gly1064del) c.3164_3175del (p.Pro1055_Gly1058del) | dbSNP |
| 22 | g.50721013C>A | CA515260921 | SHANK3 | c.2781C>A (p.Thr927=) n.3365C>A c.1833C>A (p.Thr611=) c.1323C>A (p.Thr441=) c.*1779C>A (n.*1779C>A) c.3177C>A (p.Thr1059=) c.3159C>A (p.Thr1053=) | dbSNP gnomAD v4 |
| 22 | g.50721013C= | CA2411007974 | SHANK3 | c.2781C= (p.Thr927=) n.3365C= c.1833C= (p.Thr611=) c.1323C= (p.Thr441=) c.*1779C= (n.*1779C=) c.3177C= (p.Thr1059=) c.3159C= (p.Thr1053=) | |
| 22 | g.50721013C>G | CA325578565 | SHANK3 | c.2781C>G (p.Thr927=) n.3365C>G c.1833C>G (p.Thr611=) c.1323C>G (p.Thr441=) c.*1779C>G (n.*1779C>G) c.3177C>G (p.Thr1059=) c.3159C>G (p.Thr1053=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721013C>T | CA10325973 | SHANK3 | c.2781C>T (p.Thr927=) n.3365C>T c.1833C>T (p.Thr611=) c.1323C>T (p.Thr441=) c.*1779C>T (n.*1779C>T) c.3177C>T (p.Thr1059=) c.3159C>T (p.Thr1053=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721014G>A | CA10325974 | SHANK3 | c.2782G>A (p.Gly928Ser) n.3366G>A c.1834G>A (p.Gly612Ser) c.1324G>A (p.Gly442Ser) c.*1780G>A (n.*1780G>A) c.3178G>A (p.Gly1060Ser) c.3160G>A (p.Gly1054Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721014G>C | CA515260922 | SHANK3 | c.2782G>C (p.Gly928Arg) n.3366G>C c.1834G>C (p.Gly612Arg) c.1324G>C (p.Gly442Arg) c.*1780G>C (n.*1780G>C) c.3178G>C (p.Gly1060Arg) c.3160G>C (p.Gly1054Arg) | gnomAD v4 |
| 22 | g.50721014G= | CA2411007975 | SHANK3 | c.2782G= (p.Gly928=) n.3366G= c.1834G= (p.Gly612=) c.1324G= (p.Gly442=) c.*1780G= (n.*1780G=) c.3178G= (p.Gly1060=) c.3160G= (p.Gly1054=) | |
| 22 | g.50721014G>T | CA515260923 | SHANK3 | c.2782G>T (p.Gly928Cys) n.3366G>T c.1834G>T (p.Gly612Cys) c.1324G>T (p.Gly442Cys) c.*1780G>T (n.*1780G>T) c.3178G>T (p.Gly1060Cys) c.3160G>T (p.Gly1054Cys) | gnomAD v4 |
| 22 | g.50721015G>A | CA515260924 | SHANK3 | c.2783G>A (p.Gly928Asp) n.3367G>A c.1835G>A (p.Gly612Asp) c.1325G>A (p.Gly442Asp) c.*1781G>A (n.*1781G>A) c.3179G>A (p.Gly1060Asp) c.3161G>A (p.Gly1054Asp) | gnomAD v4 |
| 22 | g.50721015G>C | CA515260926 | SHANK3 | c.2783G>C (p.Gly928Ala) n.3367G>C c.1835G>C (p.Gly612Ala) c.1325G>C (p.Gly442Ala) c.*1781G>C (n.*1781G>C) c.3179G>C (p.Gly1060Ala) c.3161G>C (p.Gly1054Ala) | |
| 22 | g.50721015G>T | CA515260925 | SHANK3 | c.2783G>T (p.Gly928Val) n.3367G>T c.1835G>T (p.Gly612Val) c.1325G>T (p.Gly442Val) c.*1781G>T (n.*1781G>T) c.3179G>T (p.Gly1060Val) c.3161G>T (p.Gly1054Val) | gnomAD v4 |
| 22 | g.50721015_50721016delinsGC | CA2411007976 | SHANK3 | c.2783_2784delinsGC (p.Gly928=) n.3367_3368delinsGC c.1835_1836delinsGC (p.Gly612=) c.1325_1326delinsGC (p.Gly442=) c.*1781_*1782delinsGC (n.*1781_*1782delinsGC) c.3179_3180delinsGC (p.Gly1060=) c.3161_3162delinsGC (p.Gly1054=) | |
| 22 | g.50721016C>A | CA515260927 | SHANK3 | c.2784C>A (p.Gly928=) n.3368C>A c.1836C>A (p.Gly612=) c.1326C>A (p.Gly442=) c.*1782C>A (n.*1782C>A) c.3180C>A (p.Gly1060=) c.3162C>A (p.Gly1054=) | gnomAD v4 |
| 22 | g.50721016C= | CA2411007977 | SHANK3 | c.2784C= (p.Gly928=) n.3368C= c.1836C= (p.Gly612=) c.1326C= (p.Gly442=) c.*1782C= (n.*1782C=) c.3180C= (p.Gly1060=) c.3162C= (p.Gly1054=) | |
| 22 | g.50721016C>G | CA10325975 | SHANK3 | c.2784C>G (p.Gly928=) n.3368C>G c.1836C>G (p.Gly612=) c.1326C>G (p.Gly442=) c.*1782C>G (n.*1782C>G) c.3180C>G (p.Gly1060=) c.3162C>G (p.Gly1054=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721016C>T | CA515260928 | SHANK3 | c.2784C>T (p.Gly928=) n.3368C>T c.1836C>T (p.Gly612=) c.1326C>T (p.Gly442=) c.*1782C>T (n.*1782C>T) c.3180C>T (p.Gly1060=) c.3162C>T (p.Gly1054=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721019del | CA645369799 | SHANK3 | c.2787del (p.Thr930ProfsTer15) n.3371del c.1839del (p.Thr614ProfsTer15) c.1329del (p.Thr444ProfsTer15) c.*1785del (n.*1785del) c.3183del (p.Thr1062ProfsTer15) c.3165del (p.Thr1056ProfsTer15) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50721017C>A | CA515260929 | SHANK3 | c.2785C>A (p.Pro929Thr) n.3369C>A c.1837C>A (p.Pro613Thr) c.1327C>A (p.Pro443Thr) c.*1783C>A (n.*1783C>A) c.3181C>A (p.Pro1061Thr) c.3163C>A (p.Pro1055Thr) | gnomAD v4 |
| 22 | g.50721017C= | CA2411007978 | SHANK3 | c.2785C= (p.Pro929=) n.3369C= c.1837C= (p.Pro613=) c.1327C= (p.Pro443=) c.*1783C= (n.*1783C=) c.3181C= (p.Pro1061=) c.3163C= (p.Pro1055=) | |
| 22 | g.50721017C>G | CA515260930 | SHANK3 | c.2785C>G (p.Pro929Ala) n.3369C>G c.1837C>G (p.Pro613Ala) c.1327C>G (p.Pro443Ala) c.*1783C>G (n.*1783C>G) c.3181C>G (p.Pro1061Ala) c.3163C>G (p.Pro1055Ala) | |
| 22 | g.50721017C>T | CA10325976 | SHANK3 | c.2785C>T (p.Pro929Ser) n.3369C>T c.1837C>T (p.Pro613Ser) c.1327C>T (p.Pro443Ser) c.*1783C>T (n.*1783C>T) c.3181C>T (p.Pro1061Ser) c.3163C>T (p.Pro1055Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721018C>A | CA515260931 | SHANK3 | c.2786C>A (p.Pro929His) n.3370C>A c.1838C>A (p.Pro613His) c.1328C>A (p.Pro443His) c.*1784C>A (n.*1784C>A) c.3182C>A (p.Pro1061His) c.3164C>A (p.Pro1055His) | |
| 22 | g.50721018C= | CA2411007979 | SHANK3 | c.2786C= (p.Pro929=) n.3370C= c.1838C= (p.Pro613=) c.1328C= (p.Pro443=) c.*1784C= (n.*1784C=) c.3182C= (p.Pro1061=) c.3164C= (p.Pro1055=) | |
| 22 | g.50721018C>G | CA515260932 | SHANK3 | c.2786C>G (p.Pro929Arg) n.3370C>G c.1838C>G (p.Pro613Arg) c.1328C>G (p.Pro443Arg) c.*1784C>G (n.*1784C>G) c.3182C>G (p.Pro1061Arg) c.3164C>G (p.Pro1055Arg) | gnomAD v4 |
| 22 | g.50721018C>T | CA515260933 | SHANK3 | c.2786C>T (p.Pro929Leu) n.3370C>T c.1838C>T (p.Pro613Leu) c.1328C>T (p.Pro443Leu) c.*1784C>T (n.*1784C>T) c.3182C>T (p.Pro1061Leu) c.3164C>T (p.Pro1055Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721019C>A | CA515260935 | SHANK3 | c.2787C>A (p.Pro929=) n.3371C>A c.1839C>A (p.Pro613=) c.1329C>A (p.Pro443=) c.*1785C>A (n.*1785C>A) c.3183C>A (p.Pro1061=) c.3165C>A (p.Pro1055=) | gnomAD v4 |
| 22 | g.50721019C= | CA2411007980 | SHANK3 | c.2787C= (p.Pro929=) n.3371C= c.1839C= (p.Pro613=) c.1329C= (p.Pro443=) c.*1785C= (n.*1785C=) c.3183C= (p.Pro1061=) c.3165C= (p.Pro1055=) | |
| 22 | g.50721019C>G | CA515260934 | SHANK3 | c.2787C>G (p.Pro929=) n.3371C>G c.1839C>G (p.Pro613=) c.1329C>G (p.Pro443=) c.*1785C>G (n.*1785C>G) c.3183C>G (p.Pro1061=) c.3165C>G (p.Pro1055=) | |
| 22 | g.50721019C>T | CA10325977 | SHANK3 | c.2787C>T (p.Pro929=) n.3371C>T c.1839C>T (p.Pro613=) c.1329C>T (p.Pro443=) c.*1785C>T (n.*1785C>T) c.3183C>T (p.Pro1061=) c.3165C>T (p.Pro1055=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721020A>C | CA515260936 | SHANK3 | c.2788A>C (p.Thr930Pro) n.3372A>C c.1840A>C (p.Thr614Pro) c.1330A>C (p.Thr444Pro) c.*1786A>C (n.*1786A>C) c.3184A>C (p.Thr1062Pro) c.3166A>C (p.Thr1056Pro) | |
| 22 | g.50721020A>G | CA515260937 | SHANK3 | c.2788A>G (p.Thr930Ala) n.3372A>G c.1840A>G (p.Thr614Ala) c.1330A>G (p.Thr444Ala) c.*1786A>G (n.*1786A>G) c.3184A>G (p.Thr1062Ala) c.3166A>G (p.Thr1056Ala) | gnomAD v4 |
| 22 | g.50721020A>T | CA515260938 | SHANK3 | c.2788A>T (p.Thr930Ser) n.3372A>T c.1840A>T (p.Thr614Ser) c.1330A>T (p.Thr444Ser) c.*1786A>T (n.*1786A>T) c.3184A>T (p.Thr1062Ser) c.3166A>T (p.Thr1056Ser) | |
| 22 | g.50721021C>A | CA515260939 | SHANK3 | c.2789C>A (p.Thr930Asn) n.3373C>A c.1841C>A (p.Thr614Asn) c.1331C>A (p.Thr444Asn) c.*1787C>A (n.*1787C>A) c.3185C>A (p.Thr1062Asn) c.3167C>A (p.Thr1056Asn) | gnomAD v4 |
| 22 | g.50721021C>G | CA515260940 | SHANK3 | c.2789C>G (p.Thr930Ser) n.3373C>G c.1841C>G (p.Thr614Ser) c.1331C>G (p.Thr444Ser) c.*1787C>G (n.*1787C>G) c.3185C>G (p.Thr1062Ser) c.3167C>G (p.Thr1056Ser) | |
| 22 | g.50721021C>T | CA515260941 | SHANK3 | c.2789C>T (p.Thr930Ile) n.3373C>T c.1841C>T (p.Thr614Ile) c.1331C>T (p.Thr444Ile) c.*1787C>T (n.*1787C>T) c.3185C>T (p.Thr1062Ile) c.3167C>T (p.Thr1056Ile) | gnomAD v4 COSMIC COSMIC |
| 22 | g.50721022C>A | CA515260942 | SHANK3 | c.2790C>A (p.Thr930=) n.3374C>A c.1842C>A (p.Thr614=) c.1332C>A (p.Thr444=) c.*1788C>A (n.*1788C>A) c.3186C>A (p.Thr1062=) c.3168C>A (p.Thr1056=) | gnomAD v4 |
| 22 | g.50721022C= | CA2411007981 | SHANK3 | c.2790C= (p.Thr930=) n.3374C= c.1842C= (p.Thr614=) c.1332C= (p.Thr444=) c.*1788C= (n.*1788C=) c.3186C= (p.Thr1062=) c.3168C= (p.Thr1056=) | |
| 22 | g.50721022C>G | CA515260943 | SHANK3 | c.2790C>G (p.Thr930=) n.3374C>G c.1842C>G (p.Thr614=) c.1332C>G (p.Thr444=) c.*1788C>G (n.*1788C>G) c.3186C>G (p.Thr1062=) c.3168C>G (p.Thr1056=) | |
| 22 | g.50721022C>T | CA515260944 | SHANK3 | c.2790C>T (p.Thr930=) n.3374C>T c.1842C>T (p.Thr614=) c.1332C>T (p.Thr444=) c.*1788C>T (n.*1788C>T) c.3186C>T (p.Thr1062=) c.3168C>T (p.Thr1056=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721022_50721023insATT | CA2550773831 | SHANK3 | c.2790_2791insATT (p.Thr930_Ala931insIle) n.3374_3375insATT c.1842_1843insATT (p.Thr614_Ala615insIle) c.1332_1333insATT (p.Thr444_Ala445insIle) c.*1788_*1789insATT (n.*1788_*1789insATT) c.3186_3187insATT (p.Thr1062_Ala1063insIle) c.3168_3169insATT (p.Thr1056_Ala1057insIle) | |
| 22 | g.50721023G>A | CA515260945 | SHANK3 | c.2791G>A (p.Ala931Thr) n.3375G>A c.1843G>A (p.Ala615Thr) c.1333G>A (p.Ala445Thr) c.*1789G>A (n.*1789G>A) c.3187G>A (p.Ala1063Thr) c.3169G>A (p.Ala1057Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721023G>C | CA515260946 | SHANK3 | c.2791G>C (p.Ala931Pro) n.3375G>C c.1843G>C (p.Ala615Pro) c.1333G>C (p.Ala445Pro) c.*1789G>C (n.*1789G>C) c.3187G>C (p.Ala1063Pro) c.3169G>C (p.Ala1057Pro) | |
| 22 | g.50721023G= | CA2411007982 | SHANK3 | c.2791G= (p.Ala931=) n.3375G= c.1843G= (p.Ala615=) c.1333G= (p.Ala445=) c.*1789G= (n.*1789G=) c.3187G= (p.Ala1063=) c.3169G= (p.Ala1057=) | |
| 22 | g.50721023G>T | CA515260947 | SHANK3 | c.2791G>T (p.Ala931Ser) n.3375G>T c.1843G>T (p.Ala615Ser) c.1333G>T (p.Ala445Ser) c.*1789G>T (n.*1789G>T) c.3187G>T (p.Ala1063Ser) c.3169G>T (p.Ala1057Ser) | gnomAD v4 |
| 22 | g.50721024C>A | CA515260950 | SHANK3 | c.2792C>A (p.Ala931Asp) n.3376C>A c.1844C>A (p.Ala615Asp) c.1334C>A (p.Ala445Asp) c.*1790C>A (n.*1790C>A) c.3188C>A (p.Ala1063Asp) c.3170C>A (p.Ala1057Asp) | gnomAD v4 |
| 22 | g.50721024C>G | CA515260948 | SHANK3 | c.2792C>G (p.Ala931Gly) n.3376C>G c.1844C>G (p.Ala615Gly) c.1334C>G (p.Ala445Gly) c.*1790C>G (n.*1790C>G) c.3188C>G (p.Ala1063Gly) c.3170C>G (p.Ala1057Gly) | |
| 22 | g.50721024C>T | CA515260949 | SHANK3 | c.2792C>T (p.Ala931Val) n.3376C>T c.1844C>T (p.Ala615Val) c.1334C>T (p.Ala445Val) c.*1790C>T (n.*1790C>T) c.3188C>T (p.Ala1063Val) c.3170C>T (p.Ala1057Val) | gnomAD v4 |
| 22 | g.50721025C>A | CA515260951 | SHANK3 | c.2793C>A (p.Ala931=) n.3377C>A c.1845C>A (p.Ala615=) c.1335C>A (p.Ala445=) c.*1791C>A (n.*1791C>A) c.3189C>A (p.Ala1063=) c.3171C>A (p.Ala1057=) | |
| 22 | g.50721025C= | CA2411007983 | SHANK3 | c.2793C= (p.Ala931=) n.3377C= c.1845C= (p.Ala615=) c.1335C= (p.Ala445=) c.*1791C= (n.*1791C=) c.3189C= (p.Ala1063=) c.3171C= (p.Ala1057=) | |
| 22 | g.50721025C>G | CA515260952 | SHANK3 | c.2793C>G (p.Ala931=) n.3377C>G c.1845C>G (p.Ala615=) c.1335C>G (p.Ala445=) c.*1791C>G (n.*1791C>G) c.3189C>G (p.Ala1063=) c.3171C>G (p.Ala1057=) | |
| 22 | g.50721025C>T | CA10325978 | SHANK3 | c.2793C>T (p.Ala931=) n.3377C>T c.1845C>T (p.Ala615=) c.1335C>T (p.Ala445=) c.*1791C>T (n.*1791C>T) c.3189C>T (p.Ala1063=) c.3171C>T (p.Ala1057=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721026G>A | CA10325979 | SHANK3 | c.2794G>A (p.Gly932Ser) n.3378G>A c.1846G>A (p.Gly616Ser) c.1336G>A (p.Gly446Ser) c.*1792G>A (n.*1792G>A) c.3190G>A (p.Gly1064Ser) c.3172G>A (p.Gly1058Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721026G>C | CA515260953 | SHANK3 | c.2794G>C (p.Gly932Arg) n.3378G>C c.1846G>C (p.Gly616Arg) c.1336G>C (p.Gly446Arg) c.*1792G>C (n.*1792G>C) c.3190G>C (p.Gly1064Arg) c.3172G>C (p.Gly1058Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721026G= | CA2411007984 | SHANK3 | c.2794G= (p.Gly932=) n.3378G= c.1846G= (p.Gly616=) c.1336G= (p.Gly446=) c.*1792G= (n.*1792G=) c.3190G= (p.Gly1064=) c.3172G= (p.Gly1058=) | |
| 22 | g.50721026G>T | CA515260954 | SHANK3 | c.2794G>T (p.Gly932Cys) n.3378G>T c.1846G>T (p.Gly616Cys) c.1336G>T (p.Gly446Cys) c.*1792G>T (n.*1792G>T) c.3190G>T (p.Gly1064Cys) c.3172G>T (p.Gly1058Cys) | gnomAD v4 |
| 22 | g.50721027G>A | CA515260955 | SHANK3 | c.2795G>A (p.Gly932Asp) n.3379G>A c.1847G>A (p.Gly616Asp) c.1337G>A (p.Gly446Asp) c.*1793G>A (n.*1793G>A) c.3191G>A (p.Gly1064Asp) c.3173G>A (p.Gly1058Asp) | gnomAD v4 |
| 22 | g.50721027G>C | CA515260956 | SHANK3 | c.2795G>C (p.Gly932Ala) n.3379G>C c.1847G>C (p.Gly616Ala) c.1337G>C (p.Gly446Ala) c.*1793G>C (n.*1793G>C) c.3191G>C (p.Gly1064Ala) c.3173G>C (p.Gly1058Ala) | |
| 22 | g.50721027G>T | CA515260957 | SHANK3 | c.2795G>T (p.Gly932Val) n.3379G>T c.1847G>T (p.Gly616Val) c.1337G>T (p.Gly446Val) c.*1793G>T (n.*1793G>T) c.3191G>T (p.Gly1064Val) c.3173G>T (p.Gly1058Val) | gnomAD v4 COSMIC COSMIC |
| 22 | g.50721028C>A | CA515260958 | SHANK3 | c.2796C>A (p.Gly932=) n.3380C>A c.1848C>A (p.Gly616=) c.1338C>A (p.Gly446=) c.*1794C>A (n.*1794C>A) c.3192C>A (p.Gly1064=) c.3174C>A (p.Gly1058=) | gnomAD v4 |
| 22 | g.50721028C= | CA2411007985 | SHANK3 | c.2796C= (p.Gly932=) n.3380C= c.1848C= (p.Gly616=) c.1338C= (p.Gly446=) c.*1794C= (n.*1794C=) c.3192C= (p.Gly1064=) c.3174C= (p.Gly1058=) | |
| 22 | g.50721028C>G | CA515260959 | SHANK3 | c.2796C>G (p.Gly932=) n.3380C>G c.1848C>G (p.Gly616=) c.1338C>G (p.Gly446=) c.*1794C>G (n.*1794C>G) c.3192C>G (p.Gly1064=) c.3174C>G (p.Gly1058=) | gnomAD v4 |
| 22 | g.50721028C>T | CA515260960 | SHANK3 | c.2796C>T (p.Gly932=) n.3380C>T c.1848C>T (p.Gly616=) c.1338C>T (p.Gly446=) c.*1794C>T (n.*1794C>T) c.3192C>T (p.Gly1064=) c.3174C>T (p.Gly1058=) | dbSNP gnomAD v4 |
| 22 | g.50721029C>A | CA515260962 | SHANK3 | c.2797C>A (p.Arg933Ser) n.3381C>A c.1849C>A (p.Arg617Ser) c.1339C>A (p.Arg447Ser) c.*1795C>A (n.*1795C>A) c.3193C>A (p.Arg1065Ser) c.3175C>A (p.Arg1059Ser) | gnomAD v4 |
| 22 | g.50721029C= | CA2411007986 | SHANK3 | c.2797C= (p.Arg933=) n.3381C= c.1849C= (p.Arg617=) c.1339C= (p.Arg447=) c.*1795C= (n.*1795C=) c.3193C= (p.Arg1065=) c.3175C= (p.Arg1059=) | |
| 22 | g.50721029C>G | CA515260963 | SHANK3 | c.2797C>G (p.Arg933Gly) n.3381C>G c.1849C>G (p.Arg617Gly) c.1339C>G (p.Arg447Gly) c.*1795C>G (n.*1795C>G) c.3193C>G (p.Arg1065Gly) c.3175C>G (p.Arg1059Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721029C>T | CA515260961 | SHANK3 | c.2797C>T (p.Arg933Cys) n.3381C>T c.1849C>T (p.Arg617Cys) c.1339C>T (p.Arg447Cys) c.*1795C>T (n.*1795C>T) c.3193C>T (p.Arg1065Cys) c.3175C>T (p.Arg1059Cys) | dbSNP gnomAD v4 |
| 22 | g.50721030G>A | CA10325980 | SHANK3 | c.2798G>A (p.Arg933His) n.3382G>A c.1850G>A (p.Arg617His) c.1340G>A (p.Arg447His) c.*1796G>A (n.*1796G>A) c.3194G>A (p.Arg1065His) c.3176G>A (p.Arg1059His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721030G>C | CA515260964 | SHANK3 | c.2798G>C (p.Arg933Pro) n.3382G>C c.1850G>C (p.Arg617Pro) c.1340G>C (p.Arg447Pro) c.*1796G>C (n.*1796G>C) c.3194G>C (p.Arg1065Pro) c.3176G>C (p.Arg1059Pro) | |
| 22 | g.50721030G= | CA2411007987 | SHANK3 | c.2798G= (p.Arg933=) n.3382G= c.1850G= (p.Arg617=) c.1340G= (p.Arg447=) c.*1796G= (n.*1796G=) c.3194G= (p.Arg1065=) c.3176G= (p.Arg1059=) | |
| 22 | g.50721030G>T | CA515260965 | SHANK3 | c.2798G>T (p.Arg933Leu) n.3382G>T c.1850G>T (p.Arg617Leu) c.1340G>T (p.Arg447Leu) c.*1796G>T (n.*1796G>T) c.3194G>T (p.Arg1065Leu) c.3176G>T (p.Arg1059Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721031C>A | CA515260966 | SHANK3 | c.2799C>A (p.Arg933=) n.3383C>A c.1851C>A (p.Arg617=) c.1341C>A (p.Arg447=) c.*1797C>A (n.*1797C>A) c.3195C>A (p.Arg1065=) c.3177C>A (p.Arg1059=) | gnomAD v4 |
| 22 | g.50721031C>G | CA515260967 | SHANK3 | c.2799C>G (p.Arg933=) n.3383C>G c.1851C>G (p.Arg617=) c.1341C>G (p.Arg447=) c.*1797C>G (n.*1797C>G) c.3195C>G (p.Arg1065=) c.3177C>G (p.Arg1059=) | |
| 22 | g.50721031C>T | CA515260968 | SHANK3 | c.2799C>T (p.Arg933=) n.3383C>T c.1851C>T (p.Arg617=) c.1341C>T (p.Arg447=) c.*1797C>T (n.*1797C>T) c.3195C>T (p.Arg1065=) c.3177C>T (p.Arg1059=) | gnomAD v4 |
| 22 | g.50721032G>A | CA515260971 | SHANK3 | c.2800G>A (p.Asp934Asn) n.3384G>A c.1852G>A (p.Asp618Asn) c.1342G>A (p.Asp448Asn) c.*1798G>A (n.*1798G>A) c.3196G>A (p.Asp1066Asn) c.3178G>A (p.Asp1060Asn) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 22 | g.50721032G>C | CA515260969 | SHANK3 | c.2800G>C (p.Asp934His) n.3384G>C c.1852G>C (p.Asp618His) c.1342G>C (p.Asp448His) c.*1798G>C (n.*1798G>C) c.3196G>C (p.Asp1066His) c.3178G>C (p.Asp1060His) | |
| 22 | g.50721032G= | CA2411007988 | SHANK3 | c.2800G= (p.Asp934=) n.3384G= c.1852G= (p.Asp618=) c.1342G= (p.Asp448=) c.*1798G= (n.*1798G=) c.3196G= (p.Asp1066=) c.3178G= (p.Asp1060=) | |
| 22 | g.50721032G>T | CA515260970 | SHANK3 | c.2800G>T (p.Asp934Tyr) n.3384G>T c.1852G>T (p.Asp618Tyr) c.1342G>T (p.Asp448Tyr) c.*1798G>T (n.*1798G>T) c.3196G>T (p.Asp1066Tyr) c.3178G>T (p.Asp1060Tyr) | gnomAD v4 |
| 22 | g.50721033A= | CA2411007989 | SHANK3 | c.2801A= (p.Asp934=) n.3385A= c.1853A= (p.Asp618=) c.1343A= (p.Asp448=) c.*1799A= (n.*1799A=) c.3197A= (p.Asp1066=) c.3179A= (p.Asp1060=) | |
| 22 | g.50721033A>C | CA515260972 | SHANK3 | c.2801A>C (p.Asp934Ala) n.3385A>C c.1853A>C (p.Asp618Ala) c.1343A>C (p.Asp448Ala) c.*1799A>C (n.*1799A>C) c.3197A>C (p.Asp1066Ala) c.3179A>C (p.Asp1060Ala) | ClinVar gnomAD v4 |
| 22 | g.50721033A>G | CA515260973 | SHANK3 | c.2801A>G (p.Asp934Gly) n.3385A>G c.1853A>G (p.Asp618Gly) c.1343A>G (p.Asp448Gly) c.*1799A>G (n.*1799A>G) c.3197A>G (p.Asp1066Gly) c.3179A>G (p.Asp1060Gly) | dbSNP gnomAD v4 |
| 22 | g.50721033A>T | CA515260974 | SHANK3 | c.2801A>T (p.Asp934Val) n.3385A>T c.1853A>T (p.Asp618Val) c.1343A>T (p.Asp448Val) c.*1799A>T (n.*1799A>T) c.3197A>T (p.Asp1066Val) c.3179A>T (p.Asp1060Val) | |
| 22 | g.50721034C>A | CA515260975 | SHANK3 | c.2802C>A (p.Asp934Glu) n.3386C>A c.1854C>A (p.Asp618Glu) c.1344C>A (p.Asp448Glu) c.*1800C>A (n.*1800C>A) c.3198C>A (p.Asp1066Glu) c.3180C>A (p.Asp1060Glu) | gnomAD v4 |
| 22 | g.50721034C= | CA2411007990 | SHANK3 | c.2802C= (p.Asp934=) n.3386C= c.1854C= (p.Asp618=) c.1344C= (p.Asp448=) c.*1800C= (n.*1800C=) c.3198C= (p.Asp1066=) c.3180C= (p.Asp1060=) | |
| 22 | g.50721034C>G | CA515260976 | SHANK3 | c.2802C>G (p.Asp934Glu) n.3386C>G c.1854C>G (p.Asp618Glu) c.1344C>G (p.Asp448Glu) c.*1800C>G (n.*1800C>G) c.3198C>G (p.Asp1066Glu) c.3180C>G (p.Asp1060Glu) | gnomAD v4 |
| 22 | g.50721034C>T | CA515260977 | SHANK3 | c.2802C>T (p.Asp934=) n.3386C>T c.1854C>T (p.Asp618=) c.1344C>T (p.Asp448=) c.*1800C>T (n.*1800C>T) c.3198C>T (p.Asp1066=) c.3180C>T (p.Asp1060=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721035C>A | CA515260978 | SHANK3 | c.2803C>A (p.Leu935Met) n.3387C>A c.1855C>A (p.Leu619Met) c.1345C>A (p.Leu449Met) c.*1801C>A (n.*1801C>A) c.3199C>A (p.Leu1067Met) c.3181C>A (p.Leu1061Met) | |
| 22 | g.50721035C= | CA2411007991 | SHANK3 | c.2803C= (p.Leu935=) n.3387C= c.1855C= (p.Leu619=) c.1345C= (p.Leu449=) c.*1801C= (n.*1801C=) c.3199C= (p.Leu1067=) c.3181C= (p.Leu1061=) | |
| 22 | g.50721035C>G | CA515260980 | SHANK3 | c.2803C>G (p.Leu935Val) n.3387C>G c.1855C>G (p.Leu619Val) c.1345C>G (p.Leu449Val) c.*1801C>G (n.*1801C>G) c.3199C>G (p.Leu1067Val) c.3181C>G (p.Leu1061Val) | gnomAD v4 |
| 22 | g.50721035C>T | CA515260979 | SHANK3 | c.2803C>T (p.Leu935=) n.3387C>T c.1855C>T (p.Leu619=) c.1345C>T (p.Leu449=) c.*1801C>T (n.*1801C>T) c.3199C>T (p.Leu1067=) c.3181C>T (p.Leu1061=) | dbSNP gnomAD v4 |
| 22 | g.50721042_50721044dup | CA2577768682 | SHANK3 | c.2810_2812dup (p.Leu937_Pro938insLeu) n.3394_3396dup c.1862_1864dup (p.Leu621_Pro622insLeu) c.1352_1354dup (p.Leu451_Pro452insLeu) c.*1808_*1810dup (n.*1808_*1810dup) c.3206_3208dup (p.Leu1069_Pro1070insLeu) c.3188_3190dup (p.Leu1063_Pro1064insLeu) | |
| 22 | g.50721042_50721044del | CA2657583424 | SHANK3 | c.2810_2812del (p.Leu937del) n.3394_3396del c.1862_1864del (p.Leu621del) c.1352_1354del (p.Leu451del) c.*1808_*1810del (n.*1808_*1810del) c.3206_3208del (p.Leu1069del) c.3188_3190del (p.Leu1063del) | gnomAD v4 |
| 22 | g.50721036T>A | CA515260981 | SHANK3 | c.2804T>A (p.Leu935Gln) n.3388T>A c.1856T>A (p.Leu619Gln) c.1346T>A (p.Leu449Gln) c.*1802T>A (n.*1802T>A) c.3200T>A (p.Leu1067Gln) c.3182T>A (p.Leu1061Gln) | |
| 22 | g.50721036T>C | CA515260982 | SHANK3 | c.2804T>C (p.Leu935Pro) n.3388T>C c.1856T>C (p.Leu619Pro) c.1346T>C (p.Leu449Pro) c.*1802T>C (n.*1802T>C) c.3200T>C (p.Leu1067Pro) c.3182T>C (p.Leu1061Pro) | gnomAD v4 |
| 22 | g.50721036T>G | CA515260983 | SHANK3 | c.2804T>G (p.Leu935Arg) n.3388T>G c.1856T>G (p.Leu619Arg) c.1346T>G (p.Leu449Arg) c.*1802T>G (n.*1802T>G) c.3200T>G (p.Leu1067Arg) c.3182T>G (p.Leu1061Arg) | |
| 22 | g.50721037G>A | CA515260984 | SHANK3 | c.2805G>A (p.Leu935=) n.3389G>A c.1857G>A (p.Leu619=) c.1347G>A (p.Leu449=) c.*1803G>A (n.*1803G>A) c.3201G>A (p.Leu1067=) c.3183G>A (p.Leu1061=) | gnomAD v4 |
| 22 | g.50721037G>C | CA515260985 | SHANK3 | c.2805G>C (p.Leu935=) n.3389G>C c.1857G>C (p.Leu619=) c.1347G>C (p.Leu449=) c.*1803G>C (n.*1803G>C) c.3201G>C (p.Leu1067=) c.3183G>C (p.Leu1061=) | dbSNP gnomAD v2 |
| 22 | g.50721037G= | CA2411007992 | SHANK3 | c.2805G= (p.Leu935=) n.3389G= c.1857G= (p.Leu619=) c.1347G= (p.Leu449=) c.*1803G= (n.*1803G=) c.3201G= (p.Leu1067=) c.3183G= (p.Leu1061=) | |
| 22 | g.50721037G>T | CA515260986 | SHANK3 | c.2805G>T (p.Leu935=) n.3389G>T c.1857G>T (p.Leu619=) c.1347G>T (p.Leu449=) c.*1803G>T (n.*1803G>T) c.3201G>T (p.Leu1067=) c.3183G>T (p.Leu1061=) | gnomAD v4 |
| 22 | g.50721038C>A | CA515260987 | SHANK3 | c.2806C>A (p.Leu936Met) n.3390C>A c.1858C>A (p.Leu620Met) c.1348C>A (p.Leu450Met) c.*1804C>A (n.*1804C>A) c.3202C>A (p.Leu1068Met) c.3184C>A (p.Leu1062Met) | |
| 22 | g.50721038C= | CA2411007993 | SHANK3 | c.2806C= (p.Leu936=) n.3390C= c.1858C= (p.Leu620=) c.1348C= (p.Leu450=) c.*1804C= (n.*1804C=) c.3202C= (p.Leu1068=) c.3184C= (p.Leu1062=) | |
| 22 | g.50721038C>G | CA515260988 | SHANK3 | c.2806C>G (p.Leu936Val) n.3390C>G c.1858C>G (p.Leu620Val) c.1348C>G (p.Leu450Val) c.*1804C>G (n.*1804C>G) c.3202C>G (p.Leu1068Val) c.3184C>G (p.Leu1062Val) | gnomAD v4 |
| 22 | g.50721038C>T | CA515260989 | SHANK3 | c.2806C>T (p.Leu936=) n.3390C>T c.1858C>T (p.Leu620=) c.1348C>T (p.Leu450=) c.*1804C>T (n.*1804C>T) c.3202C>T (p.Leu1068=) c.3184C>T (p.Leu1062=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721039T>A | CA515260990 | SHANK3 | c.2807T>A (p.Leu936Gln) n.3391T>A c.1859T>A (p.Leu620Gln) c.1349T>A (p.Leu450Gln) c.*1805T>A (n.*1805T>A) c.3203T>A (p.Leu1068Gln) c.3185T>A (p.Leu1062Gln) | |
| 22 | g.50721039T>C | CA515260991 | SHANK3 | c.2807T>C (p.Leu936Pro) n.3391T>C c.1859T>C (p.Leu620Pro) c.1349T>C (p.Leu450Pro) c.*1805T>C (n.*1805T>C) c.3203T>C (p.Leu1068Pro) c.3185T>C (p.Leu1062Pro) | |
| 22 | g.50721039T>G | CA515260992 | SHANK3 | c.2807T>G (p.Leu936Arg) n.3391T>G c.1859T>G (p.Leu620Arg) c.1349T>G (p.Leu450Arg) c.*1805T>G (n.*1805T>G) c.3203T>G (p.Leu1068Arg) c.3185T>G (p.Leu1062Arg) | |
| 22 | g.50721040G>A | CA515260993 | SHANK3 | c.2808G>A (p.Leu936=) n.3392G>A c.1860G>A (p.Leu620=) c.1350G>A (p.Leu450=) c.*1806G>A (n.*1806G>A) c.3204G>A (p.Leu1068=) c.3186G>A (p.Leu1062=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721040G>C | CA515260995 | SHANK3 | c.2808G>C (p.Leu936=) n.3392G>C c.1860G>C (p.Leu620=) c.1350G>C (p.Leu450=) c.*1806G>C (n.*1806G>C) c.3204G>C (p.Leu1068=) c.3186G>C (p.Leu1062=) | |
| 22 | g.50721040G= | CA2411007994 | SHANK3 | c.2808G= (p.Leu936=) n.3392G= c.1860G= (p.Leu620=) c.1350G= (p.Leu450=) c.*1806G= (n.*1806G=) c.3204G= (p.Leu1068=) c.3186G= (p.Leu1062=) | |
| 22 | g.50721040G>T | CA515260994 | SHANK3 | c.2808G>T (p.Leu936=) n.3392G>T c.1860G>T (p.Leu620=) c.1350G>T (p.Leu450=) c.*1806G>T (n.*1806G>T) c.3204G>T (p.Leu1068=) c.3186G>T (p.Leu1062=) | gnomAD v4 |
| 22 | g.50721041C>A | CA515260996 | SHANK3 | c.2809C>A (p.Leu937Met) n.3393C>A c.1861C>A (p.Leu621Met) c.1351C>A (p.Leu451Met) c.*1807C>A (n.*1807C>A) c.3205C>A (p.Leu1069Met) c.3187C>A (p.Leu1063Met) | gnomAD v4 |
| 22 | g.50721041C>G | CA515260997 | SHANK3 | c.2809C>G (p.Leu937Val) n.3393C>G c.1861C>G (p.Leu621Val) c.1351C>G (p.Leu451Val) c.*1807C>G (n.*1807C>G) c.3205C>G (p.Leu1069Val) c.3187C>G (p.Leu1063Val) | |
| 22 | g.50721041C>T | CA515260998 | SHANK3 | c.2809C>T (p.Leu937=) n.3393C>T c.1861C>T (p.Leu621=) c.1351C>T (p.Leu451=) c.*1807C>T (n.*1807C>T) c.3205C>T (p.Leu1069=) c.3187C>T (p.Leu1063=) | gnomAD v4 |
| 22 | g.50721048_50721063dup | CA1139667205 | SHANK3 | c.2816_2831dup (p.Lys945ProfsTer?) n.3400_3415dup c.1868_1883dup (p.Lys629ProfsTer?) c.1358_1373dup (p.Lys459ProfsTer?) c.*1814_*1829dup (n.*1814_*1829dup) c.3212_3227dup (p.Lys1077ProfsTer?) c.3194_3209dup (p.Lys1071ProfsTer?) | ClinVar dbSNP |
| 22 | g.50721042T>A | CA515260999 | SHANK3 | c.2810T>A (p.Leu937Gln) n.3394T>A c.1862T>A (p.Leu621Gln) c.1352T>A (p.Leu451Gln) c.*1808T>A (n.*1808T>A) c.3206T>A (p.Leu1069Gln) c.3188T>A (p.Leu1063Gln) | gnomAD v4 |
| 22 | g.50721042T>C | CA515261000 | SHANK3 | c.2810T>C (p.Leu937Pro) n.3394T>C c.1862T>C (p.Leu621Pro) c.1352T>C (p.Leu451Pro) c.*1808T>C (n.*1808T>C) c.3206T>C (p.Leu1069Pro) c.3188T>C (p.Leu1063Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721042T>G | CA515261001 | SHANK3 | c.2810T>G (p.Leu937Arg) n.3394T>G c.1862T>G (p.Leu621Arg) c.1352T>G (p.Leu451Arg) c.*1808T>G (n.*1808T>G) c.3206T>G (p.Leu1069Arg) c.3188T>G (p.Leu1063Arg) | |
| 22 | g.50721042T= | CA2411007995 | SHANK3 | c.2810T= (p.Leu937=) n.3394T= c.1862T= (p.Leu621=) c.1352T= (p.Leu451=) c.*1808T= (n.*1808T=) c.3206T= (p.Leu1069=) c.3188T= (p.Leu1063=) | |
| 22 | g.50721043G>A | CA515261002 | SHANK3 | c.2811G>A (p.Leu937=) n.3395G>A c.1863G>A (p.Leu621=) c.1353G>A (p.Leu451=) c.*1809G>A (n.*1809G>A) c.3207G>A (p.Leu1069=) c.3189G>A (p.Leu1063=) | gnomAD v4 |
| 22 | g.50721043G>C | CA515261003 | SHANK3 | c.2811G>C (p.Leu937=) n.3395G>C c.1863G>C (p.Leu621=) c.1353G>C (p.Leu451=) c.*1809G>C (n.*1809G>C) c.3207G>C (p.Leu1069=) c.3189G>C (p.Leu1063=) | |
| 22 | g.50721043G= | CA2411007996 | SHANK3 | c.2811G= (p.Leu937=) n.3395G= c.1863G= (p.Leu621=) c.1353G= (p.Leu451=) c.*1809G= (n.*1809G=) c.3207G= (p.Leu1069=) c.3189G= (p.Leu1063=) | |
| 22 | g.50721043G>T | CA515261004 | SHANK3 | c.2811G>T (p.Leu937=) n.3395G>T c.1863G>T (p.Leu621=) c.1353G>T (p.Leu451=) c.*1809G>T (n.*1809G>T) c.3207G>T (p.Leu1069=) c.3189G>T (p.Leu1063=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 22 | g.50721044C>A | CA515261005 | SHANK3 | c.2812C>A (p.Pro938Thr) n.3396C>A c.1864C>A (p.Pro622Thr) c.1354C>A (p.Pro452Thr) c.*1810C>A (n.*1810C>A) c.3208C>A (p.Pro1070Thr) c.3190C>A (p.Pro1064Thr) | gnomAD v4 |
| 22 | g.50721044C= | CA2411007997 | SHANK3 | c.2812C= (p.Pro938=) n.3396C= c.1864C= (p.Pro622=) c.1354C= (p.Pro452=) c.*1810C= (n.*1810C=) c.3208C= (p.Pro1070=) c.3190C= (p.Pro1064=) | |
| 22 | g.50721044C>G | CA515261006 | SHANK3 | c.2812C>G (p.Pro938Ala) n.3396C>G c.1864C>G (p.Pro622Ala) c.1354C>G (p.Pro452Ala) c.*1810C>G (n.*1810C>G) c.3208C>G (p.Pro1070Ala) c.3190C>G (p.Pro1064Ala) | |
| 22 | g.50721044C>T | CA325578581 | SHANK3 | c.2812C>T (p.Pro938Ser) n.3396C>T c.1864C>T (p.Pro622Ser) c.1354C>T (p.Pro452Ser) c.*1810C>T (n.*1810C>T) c.3208C>T (p.Pro1070Ser) c.3190C>T (p.Pro1064Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721045C>A | CA515261009 | SHANK3 | c.2813C>A (p.Pro938His) n.3397C>A c.1865C>A (p.Pro622His) c.1355C>A (p.Pro452His) c.*1811C>A (n.*1811C>A) c.3209C>A (p.Pro1070His) c.3191C>A (p.Pro1064His) | gnomAD v4 |
| 22 | g.50721045C>G | CA515261008 | SHANK3 | c.2813C>G (p.Pro938Arg) n.3397C>G c.1865C>G (p.Pro622Arg) c.1355C>G (p.Pro452Arg) c.*1811C>G (n.*1811C>G) c.3209C>G (p.Pro1070Arg) c.3191C>G (p.Pro1064Arg) | |
| 22 | g.50721045C>T | CA515261007 | SHANK3 | c.2813C>T (p.Pro938Leu) n.3397C>T c.1865C>T (p.Pro622Leu) c.1355C>T (p.Pro452Leu) c.*1811C>T (n.*1811C>T) c.3209C>T (p.Pro1070Leu) c.3191C>T (p.Pro1064Leu) | gnomAD v4 |
| 22 | g.50721046C>A | CA515261010 | SHANK3 | c.2814C>A (p.Pro938=) n.3398C>A c.1866C>A (p.Pro622=) c.1356C>A (p.Pro452=) c.*1812C>A (n.*1812C>A) c.3210C>A (p.Pro1070=) c.3192C>A (p.Pro1064=) | dbSNP gnomAD v4 |
| 22 | g.50721046C= | CA2411007998 | SHANK3 | c.2814C= (p.Pro938=) n.3398C= c.1866C= (p.Pro622=) c.1356C= (p.Pro452=) c.*1812C= (n.*1812C=) c.3210C= (p.Pro1070=) c.3192C= (p.Pro1064=) | |
| 22 | g.50721046C>G | CA515261011 | SHANK3 | c.2814C>G (p.Pro938=) n.3398C>G c.1866C>G (p.Pro622=) c.1356C>G (p.Pro452=) c.*1812C>G (n.*1812C>G) c.3210C>G (p.Pro1070=) c.3192C>G (p.Pro1064=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721046C>T | CA515261012 | SHANK3 | c.2814C>T (p.Pro938=) n.3398C>T c.1866C>T (p.Pro622=) c.1356C>T (p.Pro452=) c.*1812C>T (n.*1812C>T) c.3210C>T (p.Pro1070=) c.3192C>T (p.Pro1064=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721047T>A | CA515261013 | SHANK3 | c.2815T>A (p.Ser939Thr) n.3399T>A c.1867T>A (p.Ser623Thr) c.1357T>A (p.Ser453Thr) c.*1813T>A (n.*1813T>A) c.3211T>A (p.Ser1071Thr) c.3193T>A (p.Ser1065Thr) | |
| 22 | g.50721047T>C | CA515261014 | SHANK3 | c.2815T>C (p.Ser939Pro) n.3399T>C c.1867T>C (p.Ser623Pro) c.1357T>C (p.Ser453Pro) c.*1813T>C (n.*1813T>C) c.3211T>C (p.Ser1071Pro) c.3193T>C (p.Ser1065Pro) | gnomAD v4 |
| 22 | g.50721047T>G | CA515261015 | SHANK3 | c.2815T>G (p.Ser939Ala) n.3399T>G c.1867T>G (p.Ser623Ala) c.1357T>G (p.Ser453Ala) c.*1813T>G (n.*1813T>G) c.3211T>G (p.Ser1071Ala) c.3193T>G (p.Ser1065Ala) | |
| 22 | g.50721048C>A | CA515261016 | SHANK3 | c.2816C>A (p.Ser939Tyr) n.3400C>A c.1868C>A (p.Ser623Tyr) c.1358C>A (p.Ser453Tyr) c.*1814C>A (n.*1814C>A) c.3212C>A (p.Ser1071Tyr) c.3194C>A (p.Ser1065Tyr) | gnomAD v4 |
| 22 | g.50721048C= | CA2411007999 | SHANK3 | c.2816C= (p.Ser939=) n.3400C= c.1868C= (p.Ser623=) c.1358C= (p.Ser453=) c.*1814C= (n.*1814C=) c.3212C= (p.Ser1071=) c.3194C= (p.Ser1065=) | |
| 22 | g.50721048C>G | CA515261017 | SHANK3 | c.2816C>G (p.Ser939Cys) n.3400C>G c.1868C>G (p.Ser623Cys) c.1358C>G (p.Ser453Cys) c.*1814C>G (n.*1814C>G) c.3212C>G (p.Ser1071Cys) c.3194C>G (p.Ser1065Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721048C>T | CA515261018 | SHANK3 | c.2816C>T (p.Ser939Phe) n.3400C>T c.1868C>T (p.Ser623Phe) c.1358C>T (p.Ser453Phe) c.*1814C>T (n.*1814C>T) c.3212C>T (p.Ser1071Phe) c.3194C>T (p.Ser1065Phe) | gnomAD v4 |
| 22 | g.50721051del | CA2580099978 | SHANK3 | c.2819del (p.Pro940ArgfsTer5) n.3403del c.1871del (p.Pro624ArgfsTer5) c.1361del (p.Pro454ArgfsTer5) c.*1817del (n.*1817del) c.3215del (p.Pro1072ArgfsTer5) c.3197del (p.Pro1066ArgfsTer5) | ClinVar gnomAD v4 |
| 22 | g.50721049C>A | CA515261019 | SHANK3 | c.2817C>A (p.Ser939=) n.3401C>A c.1869C>A (p.Ser623=) c.1359C>A (p.Ser453=) c.*1815C>A (n.*1815C>A) c.3213C>A (p.Ser1071=) c.3195C>A (p.Ser1065=) | dbSNP gnomAD v4 |
| 22 | g.50721049C= | CA2411008000 | SHANK3 | c.2817C= (p.Ser939=) n.3401C= c.1869C= (p.Ser623=) c.1359C= (p.Ser453=) c.*1815C= (n.*1815C=) c.3213C= (p.Ser1071=) c.3195C= (p.Ser1065=) | |
| 22 | g.50721049C>G | CA515261020 | SHANK3 | c.2817C>G (p.Ser939=) n.3401C>G c.1869C>G (p.Ser623=) c.1359C>G (p.Ser453=) c.*1815C>G (n.*1815C>G) c.3213C>G (p.Ser1071=) c.3195C>G (p.Ser1065=) | |
| 22 | g.50721049C>T | CA10325981 | SHANK3 | c.2817C>T (p.Ser939=) n.3401C>T c.1869C>T (p.Ser623=) c.1359C>T (p.Ser453=) c.*1815C>T (n.*1815C>T) c.3213C>T (p.Ser1071=) c.3195C>T (p.Ser1065=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721050C>A | CA515261021 | SHANK3 | c.2818C>A (p.Pro940Thr) n.3402C>A c.1870C>A (p.Pro624Thr) c.1360C>A (p.Pro454Thr) c.*1816C>A (n.*1816C>A) c.3214C>A (p.Pro1072Thr) c.3196C>A (p.Pro1066Thr) | gnomAD v4 |
| 22 | g.50721050C= | CA2411008001 | SHANK3 | c.2818C= (p.Pro940=) n.3402C= c.1870C= (p.Pro624=) c.1360C= (p.Pro454=) c.*1816C= (n.*1816C=) c.3214C= (p.Pro1072=) c.3196C= (p.Pro1066=) | |
| 22 | g.50721050C>G | CA515261023 | SHANK3 | c.2818C>G (p.Pro940Ala) n.3402C>G c.1870C>G (p.Pro624Ala) c.1360C>G (p.Pro454Ala) c.*1816C>G (n.*1816C>G) c.3214C>G (p.Pro1072Ala) c.3196C>G (p.Pro1066Ala) | gnomAD v4 |
| 22 | g.50721050C>T | CA515261022 | SHANK3 | c.2818C>T (p.Pro940Ser) n.3402C>T c.1870C>T (p.Pro624Ser) c.1360C>T (p.Pro454Ser) c.*1816C>T (n.*1816C>T) c.3214C>T (p.Pro1072Ser) c.3196C>T (p.Pro1066Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721051_50721057del | CA2580099980 | SHANK3 | c.2819_2825del (p.Pro940LeufsTer3) n.3403_3409del c.1871_1877del (p.Pro624LeufsTer3) c.1361_1367del (p.Pro454LeufsTer3) c.*1817_*1823del (n.*1817_*1823del) c.3215_3221del (p.Pro1072LeufsTer3) c.3197_3203del (p.Pro1066LeufsTer3) | ClinVar |
| 22 | g.50721051C>A | CA515261024 | SHANK3 | c.2819C>A (p.Pro940Gln) n.3403C>A c.1871C>A (p.Pro624Gln) c.1361C>A (p.Pro454Gln) c.*1817C>A (n.*1817C>A) c.3215C>A (p.Pro1072Gln) c.3197C>A (p.Pro1066Gln) | |
| 22 | g.50721051C= | CA2411008002 | SHANK3 | c.2819C= (p.Pro940=) n.3403C= c.1871C= (p.Pro624=) c.1361C= (p.Pro454=) c.*1817C= (n.*1817C=) c.3215C= (p.Pro1072=) c.3197C= (p.Pro1066=) | |
| 22 | g.50721051C>G | CA10325982 | SHANK3 | c.2819C>G (p.Pro940Arg) n.3403C>G c.1871C>G (p.Pro624Arg) c.1361C>G (p.Pro454Arg) c.*1817C>G (n.*1817C>G) c.3215C>G (p.Pro1072Arg) c.3197C>G (p.Pro1066Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721051C>T | CA515261025 | SHANK3 | c.2819C>T (p.Pro940Leu) n.3403C>T c.1871C>T (p.Pro624Leu) c.1361C>T (p.Pro454Leu) c.*1817C>T (n.*1817C>T) c.3215C>T (p.Pro1072Leu) c.3197C>T (p.Pro1066Leu) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50721052G>A | CA10325983 | SHANK3 | c.2820G>A (p.Pro940=) n.3404G>A c.1872G>A (p.Pro624=) c.1362G>A (p.Pro454=) c.*1818G>A (n.*1818G>A) c.3216G>A (p.Pro1072=) c.3198G>A (p.Pro1066=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721052G>C | CA515261026 | SHANK3 | c.2820G>C (p.Pro940=) n.3404G>C c.1872G>C (p.Pro624=) c.1362G>C (p.Pro454=) c.*1818G>C (n.*1818G>C) c.3216G>C (p.Pro1072=) c.3198G>C (p.Pro1066=) | gnomAD v4 |
| 22 | g.50721052G= | CA2411008003 | SHANK3 | c.2820G= (p.Pro940=) n.3404G= c.1872G= (p.Pro624=) c.1362G= (p.Pro454=) c.*1818G= (n.*1818G=) c.3216G= (p.Pro1072=) c.3198G= (p.Pro1066=) | |
| 22 | g.50721052G>T | CA515261027 | SHANK3 | c.2820G>T (p.Pro940=) n.3404G>T c.1872G>T (p.Pro624=) c.1362G>T (p.Pro454=) c.*1818G>T (n.*1818G>T) c.3216G>T (p.Pro1072=) c.3198G>T (p.Pro1066=) | gnomAD v4 |
| 22 | g.50721053G>A | CA515261028 | SHANK3 | c.2821G>A (p.Val941Met) n.3405G>A c.1873G>A (p.Val625Met) c.1363G>A (p.Val455Met) c.*1819G>A (n.*1819G>A) c.3217G>A (p.Val1073Met) c.3199G>A (p.Val1067Met) | |
| 22 | g.50721053G>C | CA10325984 | SHANK3 | c.2821G>C (p.Val941Leu) n.3405G>C c.1873G>C (p.Val625Leu) c.1363G>C (p.Val455Leu) c.*1819G>C (n.*1819G>C) c.3217G>C (p.Val1073Leu) c.3199G>C (p.Val1067Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721053G= | CA2411008004 | SHANK3 | c.2821G= (p.Val941=) n.3405G= c.1873G= (p.Val625=) c.1363G= (p.Val455=) c.*1819G= (n.*1819G=) c.3217G= (p.Val1073=) c.3199G= (p.Val1067=) | |
| 22 | g.50721053G>T | CA515261029 | SHANK3 | c.2821G>T (p.Val941Leu) n.3405G>T c.1873G>T (p.Val625Leu) c.1363G>T (p.Val455Leu) c.*1819G>T (n.*1819G>T) c.3217G>T (p.Val1073Leu) c.3199G>T (p.Val1067Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721054T>A | CA515261032 | SHANK3 | c.2822T>A (p.Val941Glu) n.3406T>A c.1874T>A (p.Val625Glu) c.1364T>A (p.Val455Glu) c.*1820T>A (n.*1820T>A) c.3218T>A (p.Val1073Glu) c.3200T>A (p.Val1067Glu) | |
| 22 | g.50721054T>C | CA515261031 | SHANK3 | c.2822T>C (p.Val941Ala) n.3406T>C c.1874T>C (p.Val625Ala) c.1364T>C (p.Val455Ala) c.*1820T>C (n.*1820T>C) c.3218T>C (p.Val1073Ala) c.3200T>C (p.Val1067Ala) | |
| 22 | g.50721054T>G | CA515261030 | SHANK3 | c.2822T>G (p.Val941Gly) n.3406T>G c.1874T>G (p.Val625Gly) c.1364T>G (p.Val455Gly) c.*1820T>G (n.*1820T>G) c.3218T>G (p.Val1073Gly) c.3200T>G (p.Val1067Gly) |