Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.50720679_50720752del | CA2657583379 | SHANK3 | c.2447_2520del (p.Arg816ProfsTer?) n.3031_3104del c.1499_1572del (p.Arg500ProfsTer?) c.989_1062del (p.Arg330ProfsTer?) c.*1445_*1518del (n.*1445_*1518del) c.2843_2916del (p.Arg948ProfsTer?) c.2825_2898del (p.Arg942ProfsTer?) | gnomAD v4 |
22 | g.50720688G>A | CA515260005 | SHANK3 | c.2456G>A (p.Ser819Asn) n.3040G>A c.1508G>A (p.Ser503Asn) c.998G>A (p.Ser333Asn) c.*1454G>A (n.*1454G>A) c.2852G>A (p.Ser951Asn) c.2834G>A (p.Ser945Asn) | dbSNP gnomAD v4 |
22 | g.50720688G>C | CA515260006 | SHANK3 | c.2456G>C (p.Ser819Thr) n.3040G>C c.1508G>C (p.Ser503Thr) c.998G>C (p.Ser333Thr) c.*1454G>C (n.*1454G>C) c.2852G>C (p.Ser951Thr) c.2834G>C (p.Ser945Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720688G= | CA2411007759 | SHANK3 | c.2456G= (p.Ser819=) n.3040G= c.1508G= (p.Ser503=) c.998G= (p.Ser333=) c.*1454G= (n.*1454G=) c.2852G= (p.Ser951=) c.2834G= (p.Ser945=) | |
22 | g.50720688G>T | CA515260007 | SHANK3 | c.2456G>T (p.Ser819Ile) n.3040G>T c.1508G>T (p.Ser503Ile) c.998G>T (p.Ser333Ile) c.*1454G>T (n.*1454G>T) c.2852G>T (p.Ser951Ile) c.2834G>T (p.Ser945Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720688_50720689delinsGC | CA2411007760 | SHANK3 | c.2456_2457delinsGC (p.Ser819=) n.3040_3041delinsGC c.1508_1509delinsGC (p.Ser503=) c.998_999delinsGC (p.Ser333=) c.*1454_*1455delinsGC (n.*1454_*1455delinsGC) c.2852_2853delinsGC (p.Ser951=) c.2834_2835delinsGC (p.Ser945=) | |
22 | g.50720689C>A | CA515260010 | SHANK3 | c.2457C>A (p.Ser819Arg) n.3041C>A c.1509C>A (p.Ser503Arg) c.999C>A (p.Ser333Arg) c.*1455C>A (n.*1455C>A) c.2853C>A (p.Ser951Arg) c.2835C>A (p.Ser945Arg) | gnomAD v4 |
22 | g.50720689C= | CA2411007761 | SHANK3 | c.2457C= (p.Ser819=) n.3041C= c.1509C= (p.Ser503=) c.999C= (p.Ser333=) c.*1455C= (n.*1455C=) c.2853C= (p.Ser951=) c.2835C= (p.Ser945=) | |
22 | g.50720689C>G | CA515260009 | SHANK3 | c.2457C>G (p.Ser819Arg) n.3041C>G c.1509C>G (p.Ser503Arg) c.999C>G (p.Ser333Arg) c.*1455C>G (n.*1455C>G) c.2853C>G (p.Ser951Arg) c.2835C>G (p.Ser945Arg) | dbSNP gnomAD v4 |
22 | g.50720689C>T | CA515260008 | SHANK3 | c.2457C>T (p.Ser819=) n.3041C>T c.1509C>T (p.Ser503=) c.999C>T (p.Ser333=) c.*1455C>T (n.*1455C>T) c.2853C>T (p.Ser951=) c.2835C>T (p.Ser945=) | dbSNP gnomAD v4 |
22 | g.50720693dup | CA2657583382 | SHANK3 | c.2461dup (p.Leu821ProfsTer?) n.3045dup c.1513dup (p.Leu505ProfsTer?) c.1003dup (p.Leu335ProfsTer?) c.*1459dup (n.*1459dup) c.2857dup (p.Leu953ProfsTer?) c.2839dup (p.Leu947ProfsTer?) | gnomAD v4 |
22 | g.50720693del | CA640358965 | SHANK3 | c.2461del (p.Leu821TrpfsTer2) n.3045del c.1513del (p.Leu505TrpfsTer2) c.1003del (p.Leu335TrpfsTer2) c.*1459del (n.*1459del) c.2857del (p.Leu953TrpfsTer2) c.2839del (p.Leu947TrpfsTer2) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720690C>A | CA325578239 | SHANK3 | c.2458C>A (p.Pro820Thr) n.3042C>A c.1510C>A (p.Pro504Thr) c.1000C>A (p.Pro334Thr) c.*1456C>A (n.*1456C>A) c.2854C>A (p.Pro952Thr) c.2836C>A (p.Pro946Thr) | dbSNP gnomAD v4 |
22 | g.50720690C= | CA2411007762 | SHANK3 | c.2458C= (p.Pro820=) n.3042C= c.1510C= (p.Pro504=) c.1000C= (p.Pro334=) c.*1456C= (n.*1456C=) c.2854C= (p.Pro952=) c.2836C= (p.Pro946=) | |
22 | g.50720690C>G | CA515260011 | SHANK3 | c.2458C>G (p.Pro820Ala) n.3042C>G c.1510C>G (p.Pro504Ala) c.1000C>G (p.Pro334Ala) c.*1456C>G (n.*1456C>G) c.2854C>G (p.Pro952Ala) c.2836C>G (p.Pro946Ala) | |
22 | g.50720690C>T | CA515260012 | SHANK3 | c.2458C>T (p.Pro820Ser) n.3042C>T c.1510C>T (p.Pro504Ser) c.1000C>T (p.Pro334Ser) c.*1456C>T (n.*1456C>T) c.2854C>T (p.Pro952Ser) c.2836C>T (p.Pro946Ser) | ClinVar gnomAD v4 COSMIC COSMIC |
22 | g.50720691C>A | CA515260013 | SHANK3 | c.2459C>A (p.Pro820His) n.3043C>A c.1511C>A (p.Pro504His) c.1001C>A (p.Pro334His) c.*1457C>A (n.*1457C>A) c.2855C>A (p.Pro952His) c.2837C>A (p.Pro946His) | gnomAD v4 |
22 | g.50720691C= | CA2411007763 | SHANK3 | c.2459C= (p.Pro820=) n.3043C= c.1511C= (p.Pro504=) c.1001C= (p.Pro334=) c.*1457C= (n.*1457C=) c.2855C= (p.Pro952=) c.2837C= (p.Pro946=) | |
22 | g.50720691C>G | CA515260014 | SHANK3 | c.2459C>G (p.Pro820Arg) n.3043C>G c.1511C>G (p.Pro504Arg) c.1001C>G (p.Pro334Arg) c.*1457C>G (n.*1457C>G) c.2855C>G (p.Pro952Arg) c.2837C>G (p.Pro946Arg) | ClinVar dbSNP gnomAD v4 |
22 | g.50720691C>T | CA10325934 | SHANK3 | c.2459C>T (p.Pro820Leu) n.3043C>T c.1511C>T (p.Pro504Leu) c.1001C>T (p.Pro334Leu) c.*1457C>T (n.*1457C>T) c.2855C>T (p.Pro952Leu) c.2837C>T (p.Pro946Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50720692C>A | CA515260017 | SHANK3 | c.2460C>A (p.Pro820=) n.3044C>A c.1512C>A (p.Pro504=) c.1002C>A (p.Pro334=) c.*1458C>A (n.*1458C>A) c.2856C>A (p.Pro952=) c.2838C>A (p.Pro946=) | gnomAD v4 |
22 | g.50720692C>G | CA515260016 | SHANK3 | c.2460C>G (p.Pro820=) n.3044C>G c.1512C>G (p.Pro504=) c.1002C>G (p.Pro334=) c.*1458C>G (n.*1458C>G) c.2856C>G (p.Pro952=) c.2838C>G (p.Pro946=) | gnomAD v4 |
22 | g.50720692C>T | CA515260015 | SHANK3 | c.2460C>T (p.Pro820=) n.3044C>T c.1512C>T (p.Pro504=) c.1002C>T (p.Pro334=) c.*1458C>T (n.*1458C>T) c.2856C>T (p.Pro952=) c.2838C>T (p.Pro946=) | gnomAD v4 |
22 | g.50720693C>A | CA515260018 | SHANK3 | c.2461C>A (p.Leu821Met) n.3045C>A c.1513C>A (p.Leu505Met) c.1003C>A (p.Leu335Met) c.*1459C>A (n.*1459C>A) c.2857C>A (p.Leu953Met) c.2839C>A (p.Leu947Met) | gnomAD v4 |
22 | g.50720693C= | CA2411007764 | SHANK3 | c.2461C= (p.Leu821=) n.3045C= c.1513C= (p.Leu505=) c.1003C= (p.Leu335=) c.*1459C= (n.*1459C=) c.2857C= (p.Leu953=) c.2839C= (p.Leu947=) | |
22 | g.50720693C>G | CA325578240 | SHANK3 | c.2461C>G (p.Leu821Val) n.3045C>G c.1513C>G (p.Leu505Val) c.1003C>G (p.Leu335Val) c.*1459C>G (n.*1459C>G) c.2857C>G (p.Leu953Val) c.2839C>G (p.Leu947Val) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720693C>T | CA515260019 | SHANK3 | c.2461C>T (p.Leu821=) n.3045C>T c.1513C>T (p.Leu505=) c.1003C>T (p.Leu335=) c.*1459C>T (n.*1459C>T) c.2857C>T (p.Leu953=) c.2839C>T (p.Leu947=) | dbSNP gnomAD v4 |
22 | g.50720694del | CA2657583384 | SHANK3 | c.2462del (p.Leu821ArgfsTer2) n.3046del c.1514del (p.Leu505ArgfsTer2) c.1004del (p.Leu335ArgfsTer2) c.*1460del (n.*1460del) c.2858del (p.Leu953ArgfsTer2) c.2840del (p.Leu947ArgfsTer2) | gnomAD v4 |
22 | g.50720694T>A | CA515260020 | SHANK3 | c.2462T>A (p.Leu821Gln) n.3046T>A c.1514T>A (p.Leu505Gln) c.1004T>A (p.Leu335Gln) c.*1460T>A (n.*1460T>A) c.2858T>A (p.Leu953Gln) c.2840T>A (p.Leu947Gln) | gnomAD v4 |
22 | g.50720694T>C | CA515260021 | SHANK3 | c.2462T>C (p.Leu821Pro) n.3046T>C c.1514T>C (p.Leu505Pro) c.1004T>C (p.Leu335Pro) c.*1460T>C (n.*1460T>C) c.2858T>C (p.Leu953Pro) c.2840T>C (p.Leu947Pro) | gnomAD v4 |
22 | g.50720694T>G | CA515260022 | SHANK3 | c.2462T>G (p.Leu821Arg) n.3046T>G c.1514T>G (p.Leu505Arg) c.1004T>G (p.Leu335Arg) c.*1460T>G (n.*1460T>G) c.2858T>G (p.Leu953Arg) c.2840T>G (p.Leu947Arg) | |
22 | g.50720694dup | CA2657583383 | SHANK3 | c.2462dup (p.Val822GlyfsTer?) n.3046dup c.1514dup (p.Val506GlyfsTer?) c.1004dup (p.Val336GlyfsTer?) c.*1460dup (n.*1460dup) c.2858dup (p.Val954GlyfsTer?) c.2840dup (p.Val948GlyfsTer?) | gnomAD v4 |
22 | g.50720695G>A | CA515260023 | SHANK3 | c.2463G>A (p.Leu821=) n.3047G>A c.1515G>A (p.Leu505=) c.1005G>A (p.Leu335=) c.*1461G>A (n.*1461G>A) c.2859G>A (p.Leu953=) c.2841G>A (p.Leu947=) | gnomAD v4 |
22 | g.50720695G>C | CA515260025 | SHANK3 | c.2463G>C (p.Leu821=) n.3047G>C c.1515G>C (p.Leu505=) c.1005G>C (p.Leu335=) c.*1461G>C (n.*1461G>C) c.2859G>C (p.Leu953=) c.2841G>C (p.Leu947=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720695G= | CA2411007765 | SHANK3 | c.2463G= (p.Leu821=) n.3047G= c.1515G= (p.Leu505=) c.1005G= (p.Leu335=) c.*1461G= (n.*1461G=) c.2859G= (p.Leu953=) c.2841G= (p.Leu947=) | |
22 | g.50720695G>T | CA515260024 | SHANK3 | c.2463G>T (p.Leu821=) n.3047G>T c.1515G>T (p.Leu505=) c.1005G>T (p.Leu335=) c.*1461G>T (n.*1461G>T) c.2859G>T (p.Leu953=) c.2841G>T (p.Leu947=) | gnomAD v4 |
22 | g.50720696del | CA2657583385 | SHANK3 | c.2464del (p.Val822Ter) n.3048del c.1516del (p.Val506Ter) c.1006del (p.Val336Ter) c.*1462del (n.*1462del) c.2860del (p.Val954Ter) c.2842del (p.Val948Ter) | gnomAD v4 |
22 | g.50720696G>A | CA10325935 | SHANK3 | c.2464G>A (p.Val822Met) n.3048G>A c.1516G>A (p.Val506Met) c.1006G>A (p.Val336Met) c.*1462G>A (n.*1462G>A) c.2860G>A (p.Val954Met) c.2842G>A (p.Val948Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50720696G>C | CA515260026 | SHANK3 | c.2464G>C (p.Val822Leu) n.3048G>C c.1516G>C (p.Val506Leu) c.1006G>C (p.Val336Leu) c.*1462G>C (n.*1462G>C) c.2860G>C (p.Val954Leu) c.2842G>C (p.Val948Leu) | gnomAD v4 |
22 | g.50720696G= | CA2411007766 | SHANK3 | c.2464G= (p.Val822=) n.3048G= c.1516G= (p.Val506=) c.1006G= (p.Val336=) c.*1462G= (n.*1462G=) c.2860G= (p.Val954=) c.2842G= (p.Val948=) | |
22 | g.50720696G>T | CA515260027 | SHANK3 | c.2464G>T (p.Val822Leu) n.3048G>T c.1516G>T (p.Val506Leu) c.1006G>T (p.Val336Leu) c.*1462G>T (n.*1462G>T) c.2860G>T (p.Val954Leu) c.2842G>T (p.Val948Leu) | gnomAD v4 |
22 | g.50720697T>A | CA515260028 | SHANK3 | c.2465T>A (p.Val822Glu) n.3049T>A c.1517T>A (p.Val506Glu) c.1007T>A (p.Val336Glu) c.*1463T>A (n.*1463T>A) c.2861T>A (p.Val954Glu) c.2843T>A (p.Val948Glu) | gnomAD v4 |
22 | g.50720697T>C | CA515260029 | SHANK3 | c.2465T>C (p.Val822Ala) n.3049T>C c.1517T>C (p.Val506Ala) c.1007T>C (p.Val336Ala) c.*1463T>C (n.*1463T>C) c.2861T>C (p.Val954Ala) c.2843T>C (p.Val948Ala) | gnomAD v4 |
22 | g.50720697T>G | CA515260030 | SHANK3 | c.2465T>G (p.Val822Gly) n.3049T>G c.1517T>G (p.Val506Gly) c.1007T>G (p.Val336Gly) c.*1463T>G (n.*1463T>G) c.2861T>G (p.Val954Gly) c.2843T>G (p.Val948Gly) | |
22 | g.50720698del | CA2657583386 | SHANK3 | c.2466del (p.Lys823SerfsTer?) n.3050del c.1518del (p.Lys507SerfsTer?) c.1008del (p.Lys337SerfsTer?) c.*1464del (n.*1464del) c.2862del (p.Lys955SerfsTer?) c.2844del (p.Lys949SerfsTer?) | gnomAD v4 |
22 | g.50720698G>A | CA515260031 | SHANK3 | c.2466G>A (p.Val822=) n.3050G>A c.1518G>A (p.Val506=) c.1008G>A (p.Val336=) c.*1464G>A (n.*1464G>A) c.2862G>A (p.Val954=) c.2844G>A (p.Val948=) | gnomAD v4 |
22 | g.50720698G>C | CA515260032 | SHANK3 | c.2466G>C (p.Val822=) n.3050G>C c.1518G>C (p.Val506=) c.1008G>C (p.Val336=) c.*1464G>C (n.*1464G>C) c.2862G>C (p.Val954=) c.2844G>C (p.Val948=) | |
22 | g.50720698G= | CA2411007767 | SHANK3 | c.2466G= (p.Val822=) n.3050G= c.1518G= (p.Val506=) c.1008G= (p.Val336=) c.*1464G= (n.*1464G=) c.2862G= (p.Val954=) c.2844G= (p.Val948=) | |
22 | g.50720698G>T | CA515260033 | SHANK3 | c.2466G>T (p.Val822=) n.3050G>T c.1518G>T (p.Val506=) c.1008G>T (p.Val336=) c.*1464G>T (n.*1464G>T) c.2862G>T (p.Val954=) c.2844G>T (p.Val948=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50720699A>C | CA515260034 | SHANK3 | c.2467A>C (p.Lys823Gln) n.3051A>C c.1519A>C (p.Lys507Gln) c.1009A>C (p.Lys337Gln) c.*1465A>C (n.*1465A>C) c.2863A>C (p.Lys955Gln) c.2845A>C (p.Lys949Gln) | gnomAD v4 |
22 | g.50720699A>G | CA515260035 | SHANK3 | c.2467A>G (p.Lys823Glu) n.3051A>G c.1519A>G (p.Lys507Glu) c.1009A>G (p.Lys337Glu) c.*1465A>G (n.*1465A>G) c.2863A>G (p.Lys955Glu) c.2845A>G (p.Lys949Glu) | gnomAD v4 |
22 | g.50720699A>T | CA515260036 | SHANK3 | c.2467A>T (p.Lys823Ter) n.3051A>T c.1519A>T (p.Lys507Ter) c.1009A>T (p.Lys337Ter) c.*1465A>T (n.*1465A>T) c.2863A>T (p.Lys955Ter) c.2845A>T (p.Lys949Ter) | gnomAD v4 |
22 | g.50720700A>C | CA515260037 | SHANK3 | c.2468A>C (p.Lys823Thr) n.3052A>C c.1520A>C (p.Lys507Thr) c.1010A>C (p.Lys337Thr) c.*1466A>C (n.*1466A>C) c.2864A>C (p.Lys955Thr) c.2846A>C (p.Lys949Thr) | gnomAD v3 gnomAD v4 |
22 | g.50720700A>G | CA515260039 | SHANK3 | c.2468A>G (p.Lys823Arg) n.3052A>G c.1520A>G (p.Lys507Arg) c.1010A>G (p.Lys337Arg) c.*1466A>G (n.*1466A>G) c.2864A>G (p.Lys955Arg) c.2846A>G (p.Lys949Arg) | gnomAD v4 |
22 | g.50720700A>T | CA515260038 | SHANK3 | c.2468A>T (p.Lys823Met) n.3052A>T c.1520A>T (p.Lys507Met) c.1010A>T (p.Lys337Met) c.*1466A>T (n.*1466A>T) c.2864A>T (p.Lys955Met) c.2846A>T (p.Lys949Met) | gnomAD v4 |
22 | g.50720701G>A | CA325578250 | SHANK3 | c.2469G>A (p.Lys823=) n.3053G>A c.1521G>A (p.Lys507=) c.1011G>A (p.Lys337=) c.*1467G>A (n.*1467G>A) c.2865G>A (p.Lys955=) c.2847G>A (p.Lys949=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720701G>C | CA515260040 | SHANK3 | c.2469G>C (p.Lys823Asn) n.3053G>C c.1521G>C (p.Lys507Asn) c.1011G>C (p.Lys337Asn) c.*1467G>C (n.*1467G>C) c.2865G>C (p.Lys955Asn) c.2847G>C (p.Lys949Asn) | gnomAD v4 |
22 | g.50720701G= | CA2411007768 | SHANK3 | c.2469G= (p.Lys823=) n.3053G= c.1521G= (p.Lys507=) c.1011G= (p.Lys337=) c.*1467G= (n.*1467G=) c.2865G= (p.Lys955=) c.2847G= (p.Lys949=) | |
22 | g.50720701G>T | CA515260041 | SHANK3 | c.2469G>T (p.Lys823Asn) n.3053G>T c.1521G>T (p.Lys507Asn) c.1011G>T (p.Lys337Asn) c.*1467G>T (n.*1467G>T) c.2865G>T (p.Lys955Asn) c.2847G>T (p.Lys949Asn) | gnomAD v4 |
22 | g.50720702C>A | CA515260042 | SHANK3 | c.2470C>A (p.Gln824Lys) n.3054C>A c.1522C>A (p.Gln508Lys) c.1012C>A (p.Gln338Lys) c.*1468C>A (n.*1468C>A) c.2866C>A (p.Gln956Lys) c.2848C>A (p.Gln950Lys) | gnomAD v4 |
22 | g.50720702C>G | CA515260043 | SHANK3 | c.2470C>G (p.Gln824Glu) n.3054C>G c.1522C>G (p.Gln508Glu) c.1012C>G (p.Gln338Glu) c.*1468C>G (n.*1468C>G) c.2866C>G (p.Gln956Glu) c.2848C>G (p.Gln950Glu) | |
22 | g.50720702C>T | CA515260044 | SHANK3 | c.2470C>T (p.Gln824Ter) n.3054C>T c.1522C>T (p.Gln508Ter) c.1012C>T (p.Gln338Ter) c.*1468C>T (n.*1468C>T) c.2866C>T (p.Gln956Ter) c.2848C>T (p.Gln950Ter) | gnomAD v4 |
22 | g.50720703A>C | CA515260045 | SHANK3 | c.2471A>C (p.Gln824Pro) n.3055A>C c.1523A>C (p.Gln508Pro) c.1013A>C (p.Gln338Pro) c.*1469A>C (n.*1469A>C) c.2867A>C (p.Gln956Pro) c.2849A>C (p.Gln950Pro) | gnomAD v4 |
22 | g.50720703A>G | CA515260046 | SHANK3 | c.2471A>G (p.Gln824Arg) n.3055A>G c.1523A>G (p.Gln508Arg) c.1013A>G (p.Gln338Arg) c.*1469A>G (n.*1469A>G) c.2867A>G (p.Gln956Arg) c.2849A>G (p.Gln950Arg) | gnomAD v4 |
22 | g.50720703A>T | CA515260047 | SHANK3 | c.2471A>T (p.Gln824Leu) n.3055A>T c.1523A>T (p.Gln508Leu) c.1013A>T (p.Gln338Leu) c.*1469A>T (n.*1469A>T) c.2867A>T (p.Gln956Leu) c.2849A>T (p.Gln950Leu) | gnomAD v4 |
22 | g.50720704G>A | CA515260048 | SHANK3 | c.2472G>A (p.Gln824=) n.3056G>A c.1524G>A (p.Gln508=) c.1014G>A (p.Gln338=) c.*1470G>A (n.*1470G>A) c.2868G>A (p.Gln956=) c.2850G>A (p.Gln950=) | gnomAD v4 |
22 | g.50720704G>C | CA515260049 | SHANK3 | c.2472G>C (p.Gln824His) n.3056G>C c.1524G>C (p.Gln508His) c.1014G>C (p.Gln338His) c.*1470G>C (n.*1470G>C) c.2868G>C (p.Gln956His) c.2850G>C (p.Gln950His) | gnomAD v4 |
22 | g.50720704G>T | CA515260050 | SHANK3 | c.2472G>T (p.Gln824His) n.3056G>T c.1524G>T (p.Gln508His) c.1014G>T (p.Gln338His) c.*1470G>T (n.*1470G>T) c.2868G>T (p.Gln956His) c.2850G>T (p.Gln950His) | gnomAD v4 |
22 | g.50720705C>A | CA515260053 | SHANK3 | c.2473C>A (p.Leu825Met) n.3057C>A c.1525C>A (p.Leu509Met) c.1015C>A (p.Leu339Met) c.*1471C>A (n.*1471C>A) c.2869C>A (p.Leu957Met) c.2851C>A (p.Leu951Met) | gnomAD v4 |
22 | g.50720705C= | CA2411007769 | SHANK3 | c.2473C= (p.Leu825=) n.3057C= c.1525C= (p.Leu509=) c.1015C= (p.Leu339=) c.*1471C= (n.*1471C=) c.2869C= (p.Leu957=) c.2851C= (p.Leu951=) | |
22 | g.50720705C>G | CA515260052 | SHANK3 | c.2473C>G (p.Leu825Val) n.3057C>G c.1525C>G (p.Leu509Val) c.1015C>G (p.Leu339Val) c.*1471C>G (n.*1471C>G) c.2869C>G (p.Leu957Val) c.2851C>G (p.Leu951Val) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720705C>T | CA515260051 | SHANK3 | c.2473C>T (p.Leu825=) n.3057C>T c.1525C>T (p.Leu509=) c.1015C>T (p.Leu339=) c.*1471C>T (n.*1471C>T) c.2869C>T (p.Leu957=) c.2851C>T (p.Leu951=) | gnomAD v4 |
22 | g.50720706T>A | CA515260054 | SHANK3 | c.2474T>A (p.Leu825Gln) n.3058T>A c.1526T>A (p.Leu509Gln) c.1016T>A (p.Leu339Gln) c.*1472T>A (n.*1472T>A) c.2870T>A (p.Leu957Gln) c.2852T>A (p.Leu951Gln) | gnomAD v4 |
22 | g.50720706T>C | CA515260055 | SHANK3 | c.2474T>C (p.Leu825Pro) n.3058T>C c.1526T>C (p.Leu509Pro) c.1016T>C (p.Leu339Pro) c.*1472T>C (n.*1472T>C) c.2870T>C (p.Leu957Pro) c.2852T>C (p.Leu951Pro) | gnomAD v4 |
22 | g.50720706T>G | CA515260056 | SHANK3 | c.2474T>G (p.Leu825Arg) n.3058T>G c.1526T>G (p.Leu509Arg) c.1016T>G (p.Leu339Arg) c.*1472T>G (n.*1472T>G) c.2870T>G (p.Leu957Arg) c.2852T>G (p.Leu951Arg) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720706T= | CA2411007770 | SHANK3 | c.2474T= (p.Leu825=) n.3058T= c.1526T= (p.Leu509=) c.1016T= (p.Leu339=) c.*1472T= (n.*1472T=) c.2870T= (p.Leu957=) c.2852T= (p.Leu951=) | |
22 | g.50720707del | CA2657583387 | SHANK3 | c.2475del (p.Gln826ArgfsTer?) n.3059del c.1527del (p.Gln510ArgfsTer?) c.1017del (p.Gln340ArgfsTer?) c.*1473del (n.*1473del) c.2871del (p.Gln958ArgfsTer?) c.2853del (p.Gln952ArgfsTer?) | gnomAD v4 |
22 | g.50720707G>A | CA515260057 | SHANK3 | c.2475G>A (p.Leu825=) n.3059G>A c.1527G>A (p.Leu509=) c.1017G>A (p.Leu339=) c.*1473G>A (n.*1473G>A) c.2871G>A (p.Leu957=) c.2853G>A (p.Leu951=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720707G>C | CA515260058 | SHANK3 | c.2475G>C (p.Leu825=) n.3059G>C c.1527G>C (p.Leu509=) c.1017G>C (p.Leu339=) c.*1473G>C (n.*1473G>C) c.2871G>C (p.Leu957=) c.2853G>C (p.Leu951=) | gnomAD v4 |
22 | g.50720707G= | CA2411007771 | SHANK3 | c.2475G= (p.Leu825=) n.3059G= c.1527G= (p.Leu509=) c.1017G= (p.Leu339=) c.*1473G= (n.*1473G=) c.2871G= (p.Leu957=) c.2853G= (p.Leu951=) | |
22 | g.50720707G>T | CA515260059 | SHANK3 | c.2475G>T (p.Leu825=) n.3059G>T c.1527G>T (p.Leu509=) c.1017G>T (p.Leu339=) c.*1473G>T (n.*1473G>T) c.2871G>T (p.Leu957=) c.2853G>T (p.Leu951=) | gnomAD v3 gnomAD v4 |
22 | g.50720708del | CA2657583388 | SHANK3 | c.2476del (p.Gln826ArgfsTer?) n.3060del c.1528del (p.Gln510ArgfsTer?) c.1018del (p.Gln340ArgfsTer?) c.*1474del (n.*1474del) c.2872del (p.Gln958ArgfsTer?) c.2854del (p.Gln952ArgfsTer?) | gnomAD v4 |
22 | g.50720708C>A | CA515260060 | SHANK3 | c.2476C>A (p.Gln826Lys) n.3060C>A c.1528C>A (p.Gln510Lys) c.1018C>A (p.Gln340Lys) c.*1474C>A (n.*1474C>A) c.2872C>A (p.Gln958Lys) c.2854C>A (p.Gln952Lys) | gnomAD v4 |
22 | g.50720708C>G | CA515260061 | SHANK3 | c.2476C>G (p.Gln826Glu) n.3060C>G c.1528C>G (p.Gln510Glu) c.1018C>G (p.Gln340Glu) c.*1474C>G (n.*1474C>G) c.2872C>G (p.Gln958Glu) c.2854C>G (p.Gln952Glu) | gnomAD v4 |
22 | g.50720708C>T | CA515260062 | SHANK3 | c.2476C>T (p.Gln826Ter) n.3060C>T c.1528C>T (p.Gln510Ter) c.1018C>T (p.Gln340Ter) c.*1474C>T (n.*1474C>T) c.2872C>T (p.Gln958Ter) c.2854C>T (p.Gln952Ter) | gnomAD v4 |
22 | g.50720709del | CA2657583389 | SHANK3 | c.2477del (p.Gln826ArgfsTer?) n.3061del c.1529del (p.Gln510ArgfsTer?) c.1019del (p.Gln340ArgfsTer?) c.*1475del (n.*1475del) c.2873del (p.Gln958ArgfsTer?) c.2855del (p.Gln952ArgfsTer?) | gnomAD v4 |
22 | g.50720709A>C | CA515260063 | SHANK3 | c.2477A>C (p.Gln826Pro) n.3061A>C c.1529A>C (p.Gln510Pro) c.1019A>C (p.Gln340Pro) c.*1475A>C (n.*1475A>C) c.2873A>C (p.Gln958Pro) c.2855A>C (p.Gln952Pro) | |
22 | g.50720709A>G | CA515260064 | SHANK3 | c.2477A>G (p.Gln826Arg) n.3061A>G c.1529A>G (p.Gln510Arg) c.1019A>G (p.Gln340Arg) c.*1475A>G (n.*1475A>G) c.2873A>G (p.Gln958Arg) c.2855A>G (p.Gln952Arg) | gnomAD v4 |
22 | g.50720709A>T | CA515260065 | SHANK3 | c.2477A>T (p.Gln826Leu) n.3061A>T c.1529A>T (p.Gln510Leu) c.1019A>T (p.Gln340Leu) c.*1475A>T (n.*1475A>T) c.2873A>T (p.Gln958Leu) c.2855A>T (p.Gln952Leu) | gnomAD v4 |
22 | g.50720710G>A | CA515260068 | SHANK3 | c.2478G>A (p.Gln826=) n.3062G>A c.1530G>A (p.Gln510=) c.1020G>A (p.Gln340=) c.*1476G>A (n.*1476G>A) c.2874G>A (p.Gln958=) c.2856G>A (p.Gln952=) | gnomAD v4 |
22 | g.50720710G>C | CA515260067 | SHANK3 | c.2478G>C (p.Gln826His) n.3062G>C c.1530G>C (p.Gln510His) c.1020G>C (p.Gln340His) c.*1476G>C (n.*1476G>C) c.2874G>C (p.Gln958His) c.2856G>C (p.Gln952His) | |
22 | g.50720710G>T | CA515260066 | SHANK3 | c.2478G>T (p.Gln826His) n.3062G>T c.1530G>T (p.Gln510His) c.1020G>T (p.Gln340His) c.*1476G>T (n.*1476G>T) c.2874G>T (p.Gln958His) c.2856G>T (p.Gln952His) | gnomAD v4 |
22 | g.50720711G>A | CA515260069 | SHANK3 | c.2479G>A (p.Val827Met) n.3063G>A c.1531G>A (p.Val511Met) c.1021G>A (p.Val341Met) c.*1477G>A (n.*1477G>A) c.2875G>A (p.Val959Met) c.2857G>A (p.Val953Met) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720711G>C | CA515260071 | SHANK3 | c.2479G>C (p.Val827Leu) n.3063G>C c.1531G>C (p.Val511Leu) c.1021G>C (p.Val341Leu) c.*1477G>C (n.*1477G>C) c.2875G>C (p.Val959Leu) c.2857G>C (p.Val953Leu) | gnomAD v4 |
22 | g.50720711G= | CA2411007772 | SHANK3 | c.2479G= (p.Val827=) n.3063G= c.1531G= (p.Val511=) c.1021G= (p.Val341=) c.*1477G= (n.*1477G=) c.2875G= (p.Val959=) c.2857G= (p.Val953=) | |
22 | g.50720711G>T | CA515260070 | SHANK3 | c.2479G>T (p.Val827Leu) n.3063G>T c.1531G>T (p.Val511Leu) c.1021G>T (p.Val341Leu) c.*1477G>T (n.*1477G>T) c.2875G>T (p.Val959Leu) c.2857G>T (p.Val953Leu) | gnomAD v4 |
22 | g.50720712T>A | CA515260072 | SHANK3 | c.2480T>A (p.Val827Glu) n.3064T>A c.1532T>A (p.Val511Glu) c.1022T>A (p.Val341Glu) c.*1478T>A (n.*1478T>A) c.2876T>A (p.Val959Glu) c.2858T>A (p.Val953Glu) | |
22 | g.50720712T>C | CA515260073 | SHANK3 | c.2480T>C (p.Val827Ala) n.3064T>C c.1532T>C (p.Val511Ala) c.1022T>C (p.Val341Ala) c.*1478T>C (n.*1478T>C) c.2876T>C (p.Val959Ala) c.2858T>C (p.Val953Ala) | gnomAD v4 |
22 | g.50720712T>G | CA515260074 | SHANK3 | c.2480T>G (p.Val827Gly) n.3064T>G c.1532T>G (p.Val511Gly) c.1022T>G (p.Val341Gly) c.*1478T>G (n.*1478T>G) c.2876T>G (p.Val959Gly) c.2858T>G (p.Val953Gly) | gnomAD v4 |
22 | g.50720713G>A | CA515260075 | SHANK3 | c.2481G>A (p.Val827=) n.3065G>A c.1533G>A (p.Val511=) c.1023G>A (p.Val341=) c.*1479G>A (n.*1479G>A) c.2877G>A (p.Val959=) c.2859G>A (p.Val953=) | dbSNP gnomAD v4 |
22 | g.50720713G>C | CA515260076 | SHANK3 | c.2481G>C (p.Val827=) n.3065G>C c.1533G>C (p.Val511=) c.1023G>C (p.Val341=) c.*1479G>C (n.*1479G>C) c.2877G>C (p.Val959=) c.2859G>C (p.Val953=) | gnomAD v4 |
22 | g.50720713G= | CA2411007773 | SHANK3 | c.2481G= (p.Val827=) n.3065G= c.1533G= (p.Val511=) c.1023G= (p.Val341=) c.*1479G= (n.*1479G=) c.2877G= (p.Val959=) c.2859G= (p.Val953=) | |
22 | g.50720713G>T | CA515260077 | SHANK3 | c.2481G>T (p.Val827=) n.3065G>T c.1533G>T (p.Val511=) c.1023G>T (p.Val341=) c.*1479G>T (n.*1479G>T) c.2877G>T (p.Val959=) c.2859G>T (p.Val953=) | gnomAD v4 |
22 | g.50720714del | CA2657583390 | SHANK3 | c.2482del (p.Glu828ArgfsTer?) n.3066del c.1534del (p.Glu512ArgfsTer?) c.1024del (p.Glu342ArgfsTer?) c.*1480del (n.*1480del) c.2878del (p.Glu960ArgfsTer?) c.2860del (p.Glu954ArgfsTer?) | gnomAD v4 |
22 | g.50720716_50720718del | CA2657583391 | SHANK3 | c.2484_2486del (p.Glu828del) n.3068_3070del c.1536_1538del (p.Glu512del) c.1026_1028del (p.Glu342del) c.*1482_*1484del (n.*1482_*1484del) c.2880_2882del (p.Glu960del) c.2862_2864del (p.Glu954del) | gnomAD v4 |
22 | g.50720714G>A | CA515260080 | SHANK3 | c.2482G>A (p.Glu828Lys) n.3066G>A c.1534G>A (p.Glu512Lys) c.1024G>A (p.Glu342Lys) c.*1480G>A (n.*1480G>A) c.2878G>A (p.Glu960Lys) c.2860G>A (p.Glu954Lys) | gnomAD v4 |
22 | g.50720714G>C | CA515260079 | SHANK3 | c.2482G>C (p.Glu828Gln) n.3066G>C c.1534G>C (p.Glu512Gln) c.1024G>C (p.Glu342Gln) c.*1480G>C (n.*1480G>C) c.2878G>C (p.Glu960Gln) c.2860G>C (p.Glu954Gln) | gnomAD v4 |
22 | g.50720714G>T | CA515260078 | SHANK3 | c.2482G>T (p.Glu828Ter) n.3066G>T c.1534G>T (p.Glu512Ter) c.1024G>T (p.Glu342Ter) c.*1480G>T (n.*1480G>T) c.2878G>T (p.Glu960Ter) c.2860G>T (p.Glu954Ter) | gnomAD v4 |
22 | g.50720715del | CA2657583392 | SHANK3 | c.2483del (p.Glu828GlyfsTer?) n.3067del c.1535del (p.Glu512GlyfsTer?) c.1025del (p.Glu342GlyfsTer?) c.*1481del (n.*1481del) c.2879del (p.Glu960GlyfsTer?) c.2861del (p.Glu954GlyfsTer?) | gnomAD v4 |
22 | g.50720715A>C | CA515260081 | SHANK3 | c.2483A>C (p.Glu828Ala) n.3067A>C c.1535A>C (p.Glu512Ala) c.1025A>C (p.Glu342Ala) c.*1481A>C (n.*1481A>C) c.2879A>C (p.Glu960Ala) c.2861A>C (p.Glu954Ala) | gnomAD v4 |
22 | g.50720715A>G | CA515260082 | SHANK3 | c.2483A>G (p.Glu828Gly) n.3067A>G c.1535A>G (p.Glu512Gly) c.1025A>G (p.Glu342Gly) c.*1481A>G (n.*1481A>G) c.2879A>G (p.Glu960Gly) c.2861A>G (p.Glu954Gly) | gnomAD v4 |
22 | g.50720715A>T | CA515260083 | SHANK3 | c.2483A>T (p.Glu828Val) n.3067A>T c.1535A>T (p.Glu512Val) c.1025A>T (p.Glu342Val) c.*1481A>T (n.*1481A>T) c.2879A>T (p.Glu960Val) c.2861A>T (p.Glu954Val) | gnomAD v4 |
22 | g.50720716G>A | CA515260084 | SHANK3 | c.2484G>A (p.Glu828=) n.3068G>A c.1536G>A (p.Glu512=) c.1026G>A (p.Glu342=) c.*1482G>A (n.*1482G>A) c.2880G>A (p.Glu960=) c.2862G>A (p.Glu954=) | gnomAD v4 |
22 | g.50720716G>C | CA515260085 | SHANK3 | c.2484G>C (p.Glu828Asp) n.3068G>C c.1536G>C (p.Glu512Asp) c.1026G>C (p.Glu342Asp) c.*1482G>C (n.*1482G>C) c.2880G>C (p.Glu960Asp) c.2862G>C (p.Glu954Asp) | |
22 | g.50720716G>T | CA515260086 | SHANK3 | c.2484G>T (p.Glu828Asp) n.3068G>T c.1536G>T (p.Glu512Asp) c.1026G>T (p.Glu342Asp) c.*1482G>T (n.*1482G>T) c.2880G>T (p.Glu960Asp) c.2862G>T (p.Glu954Asp) | gnomAD v4 |
22 | g.50720717G>A | CA515260087 | SHANK3 | c.2485G>A (p.Asp829Asn) n.3069G>A c.1537G>A (p.Asp513Asn) c.1027G>A (p.Asp343Asn) c.*1483G>A (n.*1483G>A) c.2881G>A (p.Asp961Asn) c.2863G>A (p.Asp955Asn) | gnomAD v4 |
22 | g.50720717G>C | CA515260089 | SHANK3 | c.2485G>C (p.Asp829His) n.3069G>C c.1537G>C (p.Asp513His) c.1027G>C (p.Asp343His) c.*1483G>C (n.*1483G>C) c.2881G>C (p.Asp961His) c.2863G>C (p.Asp955His) | gnomAD v4 |
22 | g.50720717G>T | CA515260088 | SHANK3 | c.2485G>T (p.Asp829Tyr) n.3069G>T c.1537G>T (p.Asp513Tyr) c.1027G>T (p.Asp343Tyr) c.*1483G>T (n.*1483G>T) c.2881G>T (p.Asp961Tyr) c.2863G>T (p.Asp955Tyr) | gnomAD v4 |
22 | g.50720718A>C | CA515260090 | SHANK3 | c.2486A>C (p.Asp829Ala) n.3070A>C c.1538A>C (p.Asp513Ala) c.1028A>C (p.Asp343Ala) c.*1484A>C (n.*1484A>C) c.2882A>C (p.Asp961Ala) c.2864A>C (p.Asp955Ala) | |
22 | g.50720718A>G | CA515260091 | SHANK3 | c.2486A>G (p.Asp829Gly) n.3070A>G c.1538A>G (p.Asp513Gly) c.1028A>G (p.Asp343Gly) c.*1484A>G (n.*1484A>G) c.2882A>G (p.Asp961Gly) c.2864A>G (p.Asp955Gly) | gnomAD v4 |
22 | g.50720718A>T | CA515260092 | SHANK3 | c.2486A>T (p.Asp829Val) n.3070A>T c.1538A>T (p.Asp513Val) c.1028A>T (p.Asp343Val) c.*1484A>T (n.*1484A>T) c.2882A>T (p.Asp961Val) c.2864A>T (p.Asp955Val) | |
22 | g.50720719del | CA2657583393 | SHANK3 | c.2487del (p.Asp829GlufsTer?) n.3071del c.1539del (p.Asp513GlufsTer?) c.1029del (p.Asp343GlufsTer?) c.*1485del (n.*1485del) c.2883del (p.Asp961GlufsTer?) c.2865del (p.Asp955GlufsTer?) | gnomAD v4 |
22 | g.50720719C>A | CA515260093 | SHANK3 | c.2487C>A (p.Asp829Glu) n.3071C>A c.1539C>A (p.Asp513Glu) c.1029C>A (p.Asp343Glu) c.*1485C>A (n.*1485C>A) c.2883C>A (p.Asp961Glu) c.2865C>A (p.Asp955Glu) | gnomAD v4 |
22 | g.50720719C>G | CA515260094 | SHANK3 | c.2487C>G (p.Asp829Glu) n.3071C>G c.1539C>G (p.Asp513Glu) c.1029C>G (p.Asp343Glu) c.*1485C>G (n.*1485C>G) c.2883C>G (p.Asp961Glu) c.2865C>G (p.Asp955Glu) | |
22 | g.50720719C>T | CA515260095 | SHANK3 | c.2487C>T (p.Asp829=) n.3071C>T c.1539C>T (p.Asp513=) c.1029C>T (p.Asp343=) c.*1485C>T (n.*1485C>T) c.2883C>T (p.Asp961=) c.2865C>T (p.Asp955=) | gnomAD v4 |
22 | g.50720720G>A | CA515260096 | SHANK3 | c.2488G>A (p.Ala830Thr) n.3072G>A c.1540G>A (p.Ala514Thr) c.1030G>A (p.Ala344Thr) c.*1486G>A (n.*1486G>A) c.2884G>A (p.Ala962Thr) c.2866G>A (p.Ala956Thr) | dbSNP gnomAD v4 |
22 | g.50720720G>C | CA515260097 | SHANK3 | c.2488G>C (p.Ala830Pro) n.3072G>C c.1540G>C (p.Ala514Pro) c.1030G>C (p.Ala344Pro) c.*1486G>C (n.*1486G>C) c.2884G>C (p.Ala962Pro) c.2866G>C (p.Ala956Pro) | gnomAD v4 |
22 | g.50720720G= | CA2411007774 | SHANK3 | c.2488G= (p.Ala830=) n.3072G= c.1540G= (p.Ala514=) c.1030G= (p.Ala344=) c.*1486G= (n.*1486G=) c.2884G= (p.Ala962=) c.2866G= (p.Ala956=) | |
22 | g.50720720G>T | CA515260098 | SHANK3 | c.2488G>T (p.Ala830Ser) n.3072G>T c.1540G>T (p.Ala514Ser) c.1030G>T (p.Ala344Ser) c.*1486G>T (n.*1486G>T) c.2884G>T (p.Ala962Ser) c.2866G>T (p.Ala956Ser) | gnomAD v4 |
22 | g.50720721del | CA2657583394 | SHANK3 | c.2489del (p.Ala830GlyfsTer?) n.3073del c.1541del (p.Ala514GlyfsTer?) c.1031del (p.Ala344GlyfsTer?) c.*1487del (n.*1487del) c.2885del (p.Ala962GlyfsTer?) c.2867del (p.Ala956GlyfsTer?) | gnomAD v4 |
22 | g.50720721C>A | CA515260099 | SHANK3 | c.2489C>A (p.Ala830Glu) n.3073C>A c.1541C>A (p.Ala514Glu) c.1031C>A (p.Ala344Glu) c.*1487C>A (n.*1487C>A) c.2885C>A (p.Ala962Glu) c.2867C>A (p.Ala956Glu) | gnomAD v4 |
22 | g.50720721C= | CA2411007775 | SHANK3 | c.2489C= (p.Ala830=) n.3073C= c.1541C= (p.Ala514=) c.1031C= (p.Ala344=) c.*1487C= (n.*1487C=) c.2885C= (p.Ala962=) c.2867C= (p.Ala956=) | |
22 | g.50720721C>G | CA515260100 | SHANK3 | c.2489C>G (p.Ala830Gly) n.3073C>G c.1541C>G (p.Ala514Gly) c.1031C>G (p.Ala344Gly) c.*1487C>G (n.*1487C>G) c.2885C>G (p.Ala962Gly) c.2867C>G (p.Ala956Gly) | |
22 | g.50720721C>T | CA515260101 | SHANK3 | c.2489C>T (p.Ala830Val) n.3073C>T c.1541C>T (p.Ala514Val) c.1031C>T (p.Ala344Val) c.*1487C>T (n.*1487C>T) c.2885C>T (p.Ala962Val) c.2867C>T (p.Ala956Val) | dbSNP gnomAD v4 |
22 | g.50720722G>A | CA515260102 | SHANK3 | c.2490G>A (p.Ala830=) n.3074G>A c.1542G>A (p.Ala514=) c.1032G>A (p.Ala344=) c.*1488G>A (n.*1488G>A) c.2886G>A (p.Ala962=) c.2868G>A (p.Ala956=) | dbSNP gnomAD v4 |
22 | g.50720722G>C | CA10325936 | SHANK3 | c.2490G>C (p.Ala830=) n.3074G>C c.1542G>C (p.Ala514=) c.1032G>C (p.Ala344=) c.*1488G>C (n.*1488G>C) c.2886G>C (p.Ala962=) c.2868G>C (p.Ala956=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720722G= | CA2411007776 | SHANK3 | c.2490G= (p.Ala830=) n.3074G= c.1542G= (p.Ala514=) c.1032G= (p.Ala344=) c.*1488G= (n.*1488G=) c.2886G= (p.Ala962=) c.2868G= (p.Ala956=) | |
22 | g.50720722G>T | CA515260103 | SHANK3 | c.2490G>T (p.Ala830=) n.3074G>T c.1542G>T (p.Ala514=) c.1032G>T (p.Ala344=) c.*1488G>T (n.*1488G>T) c.2886G>T (p.Ala962=) c.2868G>T (p.Ala956=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50720723C>A | CA515260104 | SHANK3 | c.2491C>A (p.Gln831Lys) n.3075C>A c.1543C>A (p.Gln515Lys) c.1033C>A (p.Gln345Lys) c.*1489C>A (n.*1489C>A) c.2887C>A (p.Gln963Lys) c.2869C>A (p.Gln957Lys) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720723C= | CA2411007777 | SHANK3 | c.2491C= (p.Gln831=) n.3075C= c.1543C= (p.Gln515=) c.1033C= (p.Gln345=) c.*1489C= (n.*1489C=) c.2887C= (p.Gln963=) c.2869C= (p.Gln957=) | |
22 | g.50720723C>G | CA515260105 | SHANK3 | c.2491C>G (p.Gln831Glu) n.3075C>G c.1543C>G (p.Gln515Glu) c.1033C>G (p.Gln345Glu) c.*1489C>G (n.*1489C>G) c.2887C>G (p.Gln963Glu) c.2869C>G (p.Gln957Glu) | gnomAD v4 |
22 | g.50720723C>T | CA515260106 | SHANK3 | c.2491C>T (p.Gln831Ter) n.3075C>T c.1543C>T (p.Gln515Ter) c.1033C>T (p.Gln345Ter) c.*1489C>T (n.*1489C>T) c.2887C>T (p.Gln963Ter) c.2869C>T (p.Gln957Ter) | gnomAD v4 |
22 | g.50720724A>C | CA515260107 | SHANK3 | c.2492A>C (p.Gln831Pro) n.3076A>C c.1544A>C (p.Gln515Pro) c.1034A>C (p.Gln345Pro) c.*1490A>C (n.*1490A>C) c.2888A>C (p.Gln963Pro) c.2870A>C (p.Gln957Pro) | gnomAD v4 |
22 | g.50720724A>G | CA515260108 | SHANK3 | c.2492A>G (p.Gln831Arg) n.3076A>G c.1544A>G (p.Gln515Arg) c.1034A>G (p.Gln345Arg) c.*1490A>G (n.*1490A>G) c.2888A>G (p.Gln963Arg) c.2870A>G (p.Gln957Arg) | gnomAD v4 |
22 | g.50720724A>T | CA515260109 | SHANK3 | c.2492A>T (p.Gln831Leu) n.3076A>T c.1544A>T (p.Gln515Leu) c.1034A>T (p.Gln345Leu) c.*1490A>T (n.*1490A>T) c.2888A>T (p.Gln963Leu) c.2870A>T (p.Gln957Leu) | gnomAD v4 |
22 | g.50720725G>A | CA515260110 | SHANK3 | c.2493G>A (p.Gln831=) n.3077G>A c.1545G>A (p.Gln515=) c.1035G>A (p.Gln345=) c.*1491G>A (n.*1491G>A) c.2889G>A (p.Gln963=) c.2871G>A (p.Gln957=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50720725G>C | CA515260111 | SHANK3 | c.2493G>C (p.Gln831His) n.3077G>C c.1545G>C (p.Gln515His) c.1035G>C (p.Gln345His) c.*1491G>C (n.*1491G>C) c.2889G>C (p.Gln963His) c.2871G>C (p.Gln957His) | gnomAD v4 |
22 | g.50720725G= | CA2411007778 | SHANK3 | c.2493G= (p.Gln831=) n.3077G= c.1545G= (p.Gln515=) c.1035G= (p.Gln345=) c.*1491G= (n.*1491G=) c.2889G= (p.Gln963=) c.2871G= (p.Gln957=) | |
22 | g.50720725G>T | CA515260112 | SHANK3 | c.2493G>T (p.Gln831His) n.3077G>T c.1545G>T (p.Gln515His) c.1035G>T (p.Gln345His) c.*1491G>T (n.*1491G>T) c.2889G>T (p.Gln963His) c.2871G>T (p.Gln957His) | gnomAD v4 |
22 | g.50720726G>A | CA515260113 | SHANK3 | c.2494G>A (p.Glu832Lys) n.3078G>A c.1546G>A (p.Glu516Lys) c.1036G>A (p.Glu346Lys) c.*1492G>A (n.*1492G>A) c.2890G>A (p.Glu964Lys) c.2872G>A (p.Glu958Lys) | gnomAD v4 |
22 | g.50720726G>C | CA515260114 | SHANK3 | c.2494G>C (p.Glu832Gln) n.3078G>C c.1546G>C (p.Glu516Gln) c.1036G>C (p.Glu346Gln) c.*1492G>C (n.*1492G>C) c.2890G>C (p.Glu964Gln) c.2872G>C (p.Glu958Gln) | gnomAD v4 |
22 | g.50720726G>T | CA515260115 | SHANK3 | c.2494G>T (p.Glu832Ter) n.3078G>T c.1546G>T (p.Glu516Ter) c.1036G>T (p.Glu346Ter) c.*1492G>T (n.*1492G>T) c.2890G>T (p.Glu964Ter) c.2872G>T (p.Glu958Ter) | gnomAD v4 |
22 | g.50720727A= | CA2411007779 | SHANK3 | c.2495A= (p.Glu832=) n.3079A= c.1547A= (p.Glu516=) c.1037A= (p.Glu346=) c.*1493A= (n.*1493A=) c.2891A= (p.Glu964=) c.2873A= (p.Glu958=) | |
22 | g.50720727A>C | CA515260118 | SHANK3 | c.2495A>C (p.Glu832Ala) n.3079A>C c.1547A>C (p.Glu516Ala) c.1037A>C (p.Glu346Ala) c.*1493A>C (n.*1493A>C) c.2891A>C (p.Glu964Ala) c.2873A>C (p.Glu958Ala) | |
22 | g.50720727A>G | CA515260117 | SHANK3 | c.2495A>G (p.Glu832Gly) n.3079A>G c.1547A>G (p.Glu516Gly) c.1037A>G (p.Glu346Gly) c.*1493A>G (n.*1493A>G) c.2891A>G (p.Glu964Gly) c.2873A>G (p.Glu958Gly) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720727A>T | CA515260116 | SHANK3 | c.2495A>T (p.Glu832Val) n.3079A>T c.1547A>T (p.Glu516Val) c.1037A>T (p.Glu346Val) c.*1493A>T (n.*1493A>T) c.2891A>T (p.Glu964Val) c.2873A>T (p.Glu958Val) | |
22 | g.50720728G>A | CA515260119 | SHANK3 | c.2496G>A (p.Glu832=) n.3080G>A c.1548G>A (p.Glu516=) c.1038G>A (p.Glu346=) c.*1494G>A (n.*1494G>A) c.2892G>A (p.Glu964=) c.2874G>A (p.Glu958=) | gnomAD v4 |
22 | g.50720728G>C | CA515260120 | SHANK3 | c.2496G>C (p.Glu832Asp) n.3080G>C c.1548G>C (p.Glu516Asp) c.1038G>C (p.Glu346Asp) c.*1494G>C (n.*1494G>C) c.2892G>C (p.Glu964Asp) c.2874G>C (p.Glu958Asp) | |
22 | g.50720728G>T | CA515260121 | SHANK3 | c.2496G>T (p.Glu832Asp) n.3080G>T c.1548G>T (p.Glu516Asp) c.1038G>T (p.Glu346Asp) c.*1494G>T (n.*1494G>T) c.2892G>T (p.Glu964Asp) c.2874G>T (p.Glu958Asp) | gnomAD v4 |
22 | g.50720729C>A | CA515260122 | SHANK3 | c.2497C>A (p.Arg833Ser) n.3081C>A c.1549C>A (p.Arg517Ser) c.1039C>A (p.Arg347Ser) c.*1495C>A (n.*1495C>A) c.2893C>A (p.Arg965Ser) c.2875C>A (p.Arg959Ser) | gnomAD v4 |
22 | g.50720729C>G | CA515260123 | SHANK3 | c.2497C>G (p.Arg833Gly) n.3081C>G c.1549C>G (p.Arg517Gly) c.1039C>G (p.Arg347Gly) c.*1495C>G (n.*1495C>G) c.2893C>G (p.Arg965Gly) c.2875C>G (p.Arg959Gly) | gnomAD v4 |
22 | g.50720729C>T | CA515260124 | SHANK3 | c.2497C>T (p.Arg833Cys) n.3081C>T c.1549C>T (p.Arg517Cys) c.1039C>T (p.Arg347Cys) c.*1495C>T (n.*1495C>T) c.2893C>T (p.Arg965Cys) c.2875C>T (p.Arg959Cys) | gnomAD v4 |
22 | g.50720730G>A | CA325578258 | SHANK3 | c.2498G>A (p.Arg833His) n.3082G>A c.1550G>A (p.Arg517His) c.1040G>A (p.Arg347His) c.*1496G>A (n.*1496G>A) c.2894G>A (p.Arg965His) c.2876G>A (p.Arg959His) | dbSNP gnomAD v4 |
22 | g.50720730G>C | CA515260125 | SHANK3 | c.2498G>C (p.Arg833Pro) n.3082G>C c.1550G>C (p.Arg517Pro) c.1040G>C (p.Arg347Pro) c.*1496G>C (n.*1496G>C) c.2894G>C (p.Arg965Pro) c.2876G>C (p.Arg959Pro) | gnomAD v4 |
22 | g.50720730G= | CA2411007780 | SHANK3 | c.2498G= (p.Arg833=) n.3082G= c.1550G= (p.Arg517=) c.1040G= (p.Arg347=) c.*1496G= (n.*1496G=) c.2894G= (p.Arg965=) c.2876G= (p.Arg959=) | |
22 | g.50720730G>T | CA515260126 | SHANK3 | c.2498G>T (p.Arg833Leu) n.3082G>T c.1550G>T (p.Arg517Leu) c.1040G>T (p.Arg347Leu) c.*1496G>T (n.*1496G>T) c.2894G>T (p.Arg965Leu) c.2876G>T (p.Arg959Leu) | gnomAD v4 |
22 | g.50720731C>A | CA515260127 | SHANK3 | c.2499C>A (p.Arg833=) n.3083C>A c.1551C>A (p.Arg517=) c.1041C>A (p.Arg347=) c.*1497C>A (n.*1497C>A) c.2895C>A (p.Arg965=) c.2877C>A (p.Arg959=) | gnomAD v4 |
22 | g.50720731C= | CA2411007781 | SHANK3 | c.2499C= (p.Arg833=) n.3083C= c.1551C= (p.Arg517=) c.1041C= (p.Arg347=) c.*1497C= (n.*1497C=) c.2895C= (p.Arg965=) c.2877C= (p.Arg959=) | |
22 | g.50720731C>G | CA515260128 | SHANK3 | c.2499C>G (p.Arg833=) n.3083C>G c.1551C>G (p.Arg517=) c.1041C>G (p.Arg347=) c.*1497C>G (n.*1497C>G) c.2895C>G (p.Arg965=) c.2877C>G (p.Arg959=) | gnomAD v4 |
22 | g.50720731C>T | CA515260129 | SHANK3 | c.2499C>T (p.Arg833=) n.3083C>T c.1551C>T (p.Arg517=) c.1041C>T (p.Arg347=) c.*1497C>T (n.*1497C>T) c.2895C>T (p.Arg965=) c.2877C>T (p.Arg959=) | dbSNP gnomAD v4 |
22 | g.50720732G>A | CA515260130 | SHANK3 | c.2500G>A (p.Ala834Thr) n.3084G>A c.1552G>A (p.Ala518Thr) c.1042G>A (p.Ala348Thr) c.*1498G>A (n.*1498G>A) c.2896G>A (p.Ala966Thr) c.2878G>A (p.Ala960Thr) | gnomAD v4 |
22 | g.50720732G>C | CA325578260 | SHANK3 | c.2500G>C (p.Ala834Pro) n.3084G>C c.1552G>C (p.Ala518Pro) c.1042G>C (p.Ala348Pro) c.*1498G>C (n.*1498G>C) c.2896G>C (p.Ala966Pro) c.2878G>C (p.Ala960Pro) | dbSNP gnomAD v4 |
22 | g.50720732G= | CA2411007782 | SHANK3 | c.2500G= (p.Ala834=) n.3084G= c.1552G= (p.Ala518=) c.1042G= (p.Ala348=) c.*1498G= (n.*1498G=) c.2896G= (p.Ala966=) c.2878G= (p.Ala960=) | |
22 | g.50720732G>T | CA515260131 | SHANK3 | c.2500G>T (p.Ala834Ser) n.3084G>T c.1552G>T (p.Ala518Ser) c.1042G>T (p.Ala348Ser) c.*1498G>T (n.*1498G>T) c.2896G>T (p.Ala966Ser) c.2878G>T (p.Ala960Ser) | gnomAD v4 |
22 | g.50720733C>A | CA515260132 | SHANK3 | c.2501C>A (p.Ala834Glu) n.3085C>A c.1553C>A (p.Ala518Glu) c.1043C>A (p.Ala348Glu) c.*1499C>A (n.*1499C>A) c.2897C>A (p.Ala966Glu) c.2879C>A (p.Ala960Glu) | gnomAD v4 |
22 | g.50720733C= | CA2411007783 | SHANK3 | c.2501C= (p.Ala834=) n.3085C= c.1553C= (p.Ala518=) c.1043C= (p.Ala348=) c.*1499C= (n.*1499C=) c.2897C= (p.Ala966=) c.2879C= (p.Ala960=) | |
22 | g.50720733C>G | CA515260134 | SHANK3 | c.2501C>G (p.Ala834Gly) n.3085C>G c.1553C>G (p.Ala518Gly) c.1043C>G (p.Ala348Gly) c.*1499C>G (n.*1499C>G) c.2897C>G (p.Ala966Gly) c.2879C>G (p.Ala960Gly) | gnomAD v4 |
22 | g.50720733C>T | CA515260133 | SHANK3 | c.2501C>T (p.Ala834Val) n.3085C>T c.1553C>T (p.Ala518Val) c.1043C>T (p.Ala348Val) c.*1499C>T (n.*1499C>T) c.2897C>T (p.Ala966Val) c.2879C>T (p.Ala960Val) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50720734G>A | CA515260135 | SHANK3 | c.2502G>A (p.Ala834=) n.3086G>A c.1554G>A (p.Ala518=) c.1044G>A (p.Ala348=) c.*1500G>A (n.*1500G>A) c.2898G>A (p.Ala966=) c.2880G>A (p.Ala960=) | gnomAD v4 |
22 | g.50720734G>C | CA515260136 | SHANK3 | c.2502G>C (p.Ala834=) n.3086G>C c.1554G>C (p.Ala518=) c.1044G>C (p.Ala348=) c.*1500G>C (n.*1500G>C) c.2898G>C (p.Ala966=) c.2880G>C (p.Ala960=) | gnomAD v4 |
22 | g.50720734G>T | CA515260137 | SHANK3 | c.2502G>T (p.Ala834=) n.3086G>T c.1554G>T (p.Ala518=) c.1044G>T (p.Ala348=) c.*1500G>T (n.*1500G>T) c.2898G>T (p.Ala966=) c.2880G>T (p.Ala960=) | gnomAD v4 |
22 | g.50720735G>A | CA515260138 | SHANK3 | c.2503G>A (p.Ala835Thr) n.3087G>A c.1555G>A (p.Ala519Thr) c.1045G>A (p.Ala349Thr) c.*1501G>A (n.*1501G>A) c.2899G>A (p.Ala967Thr) c.2881G>A (p.Ala961Thr) | gnomAD v4 |
22 | g.50720735G>C | CA515260139 | SHANK3 | c.2503G>C (p.Ala835Pro) n.3087G>C c.1555G>C (p.Ala519Pro) c.1045G>C (p.Ala349Pro) c.*1501G>C (n.*1501G>C) c.2899G>C (p.Ala967Pro) c.2881G>C (p.Ala961Pro) | gnomAD v4 |
22 | g.50720735G= | CA2411007784 | SHANK3 | c.2503G= (p.Ala835=) n.3087G= c.1555G= (p.Ala519=) c.1045G= (p.Ala349=) c.*1501G= (n.*1501G=) c.2899G= (p.Ala967=) c.2881G= (p.Ala961=) | |
22 | g.50720735G>T | CA515260140 | SHANK3 | c.2503G>T (p.Ala835Ser) n.3087G>T c.1555G>T (p.Ala519Ser) c.1045G>T (p.Ala349Ser) c.*1501G>T (n.*1501G>T) c.2899G>T (p.Ala967Ser) c.2881G>T (p.Ala961Ser) | gnomAD v4 |
22 | g.50720736C>A | CA515260141 | SHANK3 | c.2504C>A (p.Ala835Asp) n.3088C>A c.1556C>A (p.Ala519Asp) c.1046C>A (p.Ala349Asp) c.*1502C>A (n.*1502C>A) c.2900C>A (p.Ala967Asp) c.2882C>A (p.Ala961Asp) | ClinVar dbSNP gnomAD v4 |
22 | g.50720736C>G | CA515260142 | SHANK3 | c.2504C>G (p.Ala835Gly) n.3088C>G c.1556C>G (p.Ala519Gly) c.1046C>G (p.Ala349Gly) c.*1502C>G (n.*1502C>G) c.2900C>G (p.Ala967Gly) c.2882C>G (p.Ala961Gly) | gnomAD v4 |
22 | g.50720736C>T | CA515260143 | SHANK3 | c.2504C>T (p.Ala835Val) n.3088C>T c.1556C>T (p.Ala519Val) c.1046C>T (p.Ala349Val) c.*1502C>T (n.*1502C>T) c.2900C>T (p.Ala967Val) c.2882C>T (p.Ala961Val) | gnomAD v4 |
22 | g.50720738dup | CA640358966 | SHANK3 | c.2506dup (p.Leu836ProfsTer?) n.3090dup c.1558dup (p.Leu520ProfsTer?) c.1048dup (p.Leu350ProfsTer?) c.*1504dup (n.*1504dup) c.2902dup (p.Leu968ProfsTer?) c.2884dup (p.Leu962ProfsTer?) | dbSNP gnomAD v2 |
22 | g.50720738del | CA2657583395 | SHANK3 | c.2506del (p.Leu836TrpfsTer?) n.3090del c.1558del (p.Leu520TrpfsTer?) c.1048del (p.Leu350TrpfsTer?) c.*1504del (n.*1504del) c.2902del (p.Leu968TrpfsTer?) c.2884del (p.Leu962TrpfsTer?) | gnomAD v4 |
22 | g.50720737C>A | CA515260144 | SHANK3 | c.2505C>A (p.Ala835=) n.3089C>A c.1557C>A (p.Ala519=) c.1047C>A (p.Ala349=) c.*1503C>A (n.*1503C>A) c.2901C>A (p.Ala967=) c.2883C>A (p.Ala961=) | gnomAD v4 |
22 | g.50720737C>G | CA515260145 | SHANK3 | c.2505C>G (p.Ala835=) n.3089C>G c.1557C>G (p.Ala519=) c.1047C>G (p.Ala349=) c.*1503C>G (n.*1503C>G) c.2901C>G (p.Ala967=) c.2883C>G (p.Ala961=) | |
22 | g.50720737C>T | CA515260146 | SHANK3 | c.2505C>T (p.Ala835=) n.3089C>T c.1557C>T (p.Ala519=) c.1047C>T (p.Ala349=) c.*1503C>T (n.*1503C>T) c.2901C>T (p.Ala967=) c.2883C>T (p.Ala961=) | gnomAD v4 |
22 | g.50720738C>A | CA515260147 | SHANK3 | c.2506C>A (p.Leu836Met) n.3090C>A c.1558C>A (p.Leu520Met) c.1048C>A (p.Leu350Met) c.*1504C>A (n.*1504C>A) c.2902C>A (p.Leu968Met) c.2884C>A (p.Leu962Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720738C= | CA2411007785 | SHANK3 | c.2506C= (p.Leu836=) n.3090C= c.1558C= (p.Leu520=) c.1048C= (p.Leu350=) c.*1504C= (n.*1504C=) c.2902C= (p.Leu968=) c.2884C= (p.Leu962=) | |
22 | g.50720738C>G | CA515260149 | SHANK3 | c.2506C>G (p.Leu836Val) n.3090C>G c.1558C>G (p.Leu520Val) c.1048C>G (p.Leu350Val) c.*1504C>G (n.*1504C>G) c.2902C>G (p.Leu968Val) c.2884C>G (p.Leu962Val) | ClinVar |
22 | g.50720738C>T | CA515260148 | SHANK3 | c.2506C>T (p.Leu836=) n.3090C>T c.1558C>T (p.Leu520=) c.1048C>T (p.Leu350=) c.*1504C>T (n.*1504C>T) c.2902C>T (p.Leu968=) c.2884C>T (p.Leu962=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720738_50720741delinsCTGG | CA2411007786 | SHANK3 | c.2506_2509delinsCTGG (p.Leu836=) n.3090_3093delinsCTGG c.1558_1561delinsCTGG (p.Leu520=) c.1048_1051delinsCTGG (p.Leu350=) c.*1504_*1507delinsCTGG (n.*1504_*1507delinsCTGG) c.2902_2905delinsCTGG (p.Leu968=) c.2884_2887delinsCTGG (p.Leu962=) | |
22 | g.50720739T>A | CA515260150 | SHANK3 | c.2507T>A (p.Leu836Gln) n.3091T>A c.1559T>A (p.Leu520Gln) c.1049T>A (p.Leu350Gln) c.*1505T>A (n.*1505T>A) c.2903T>A (p.Leu968Gln) c.2885T>A (p.Leu962Gln) | gnomAD v4 |
22 | g.50720739T>C | CA515260151 | SHANK3 | c.2507T>C (p.Leu836Pro) n.3091T>C c.1559T>C (p.Leu520Pro) c.1049T>C (p.Leu350Pro) c.*1505T>C (n.*1505T>C) c.2903T>C (p.Leu968Pro) c.2885T>C (p.Leu962Pro) | gnomAD v4 |
22 | g.50720739T>G | CA515260152 | SHANK3 | c.2507T>G (p.Leu836Arg) n.3091T>G c.1559T>G (p.Leu520Arg) c.1049T>G (p.Leu350Arg) c.*1505T>G (n.*1505T>G) c.2903T>G (p.Leu968Arg) c.2885T>G (p.Leu962Arg) | gnomAD v4 |
22 | g.50720739T= | CA2411007787 | SHANK3 | c.2507T= (p.Leu836=) n.3091T= c.1559T= (p.Leu520=) c.1049T= (p.Leu350=) c.*1505T= (n.*1505T=) c.2903T= (p.Leu968=) c.2885T= (p.Leu962=) | |
22 | g.50720739_50720741del | CA640358967 | SHANK3 | c.2507_2509del (p.Leu836_Ala837delinsPro) n.3091_3093del c.1559_1561del (p.Leu520_Ala521delinsPro) c.1049_1051del (p.Leu350_Ala351delinsPro) c.*1505_*1507del (n.*1505_*1507del) c.2903_2905del (p.Leu968_Ala969delinsPro) c.2885_2887del (p.Leu962_Ala963delinsPro) | dbSNP gnomAD v2 |
22 | g.50720740G>A | CA515260153 | SHANK3 | c.2508G>A (p.Leu836=) n.3092G>A c.1560G>A (p.Leu520=) c.1050G>A (p.Leu350=) c.*1506G>A (n.*1506G>A) c.2904G>A (p.Leu968=) c.2886G>A (p.Leu962=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50720740G>C | CA515260154 | SHANK3 | c.2508G>C (p.Leu836=) n.3092G>C c.1560G>C (p.Leu520=) c.1050G>C (p.Leu350=) c.*1506G>C (n.*1506G>C) c.2904G>C (p.Leu968=) c.2886G>C (p.Leu962=) | gnomAD v4 |
22 | g.50720740G= | CA2411007788 | SHANK3 | c.2508G= (p.Leu836=) n.3092G= c.1560G= (p.Leu520=) c.1050G= (p.Leu350=) c.*1506G= (n.*1506G=) c.2904G= (p.Leu968=) c.2886G= (p.Leu962=) | |
22 | g.50720740G>T | CA515260155 | SHANK3 | c.2508G>T (p.Leu836=) n.3092G>T c.1560G>T (p.Leu520=) c.1050G>T (p.Leu350=) c.*1506G>T (n.*1506G>T) c.2904G>T (p.Leu968=) c.2886G>T (p.Leu962=) | gnomAD v4 |
22 | g.50720741del | CA2657583396 | SHANK3 | c.2509del (p.Ala837ProfsTer?) n.3093del c.1561del (p.Ala521ProfsTer?) c.1051del (p.Ala351ProfsTer?) c.*1507del (n.*1507del) c.2905del (p.Ala969ProfsTer?) c.2887del (p.Ala963ProfsTer?) | gnomAD v4 |
22 | g.50720742_50720757dup | CA10581460 | SHANK3 | c.2510_2525dup (p.Pro843ArgfsTer?) n.3094_3109dup c.1562_1577dup (p.Pro527ArgfsTer?) c.1052_1067dup (p.Pro357ArgfsTer?) c.*1508_*1523dup (n.*1508_*1523dup) c.2906_2921dup (p.Pro975ArgfsTer?) c.2888_2903dup (p.Pro969ArgfsTer?) | ClinVar dbSNP |
22 | g.50720741G>A | CA515260156 | SHANK3 | c.2509G>A (p.Ala837Thr) n.3093G>A c.1561G>A (p.Ala521Thr) c.1051G>A (p.Ala351Thr) c.*1507G>A (n.*1507G>A) c.2905G>A (p.Ala969Thr) c.2887G>A (p.Ala963Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720741G>C | CA515260157 | SHANK3 | c.2509G>C (p.Ala837Pro) n.3093G>C c.1561G>C (p.Ala521Pro) c.1051G>C (p.Ala351Pro) c.*1507G>C (n.*1507G>C) c.2905G>C (p.Ala969Pro) c.2887G>C (p.Ala963Pro) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720741G= | CA2411007789 | SHANK3 | c.2509G= (p.Ala837=) n.3093G= c.1561G= (p.Ala521=) c.1051G= (p.Ala351=) c.*1507G= (n.*1507G=) c.2905G= (p.Ala969=) c.2887G= (p.Ala963=) | |
22 | g.50720741G>T | CA10325937 | SHANK3 | c.2509G>T (p.Ala837Ser) n.3093G>T c.1561G>T (p.Ala521Ser) c.1051G>T (p.Ala351Ser) c.*1507G>T (n.*1507G>T) c.2905G>T (p.Ala969Ser) c.2887G>T (p.Ala963Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720742C>A | CA515260159 | SHANK3 | c.2510C>A (p.Ala837Asp) n.3094C>A c.1562C>A (p.Ala521Asp) c.1052C>A (p.Ala351Asp) c.*1508C>A (n.*1508C>A) c.2906C>A (p.Ala969Asp) c.2888C>A (p.Ala963Asp) | gnomAD v4 |
22 | g.50720742C= | CA2411007790 | SHANK3 | c.2510C= (p.Ala837=) n.3094C= c.1562C= (p.Ala521=) c.1052C= (p.Ala351=) c.*1508C= (n.*1508C=) c.2906C= (p.Ala969=) c.2888C= (p.Ala963=) | |
22 | g.50720742C>G | CA515260160 | SHANK3 | c.2510C>G (p.Ala837Gly) n.3094C>G c.1562C>G (p.Ala521Gly) c.1052C>G (p.Ala351Gly) c.*1508C>G (n.*1508C>G) c.2906C>G (p.Ala969Gly) c.2888C>G (p.Ala963Gly) | gnomAD v4 |
22 | g.50720742C>T | CA515260158 | SHANK3 | c.2510C>T (p.Ala837Val) n.3094C>T c.1562C>T (p.Ala521Val) c.1052C>T (p.Ala351Val) c.*1508C>T (n.*1508C>T) c.2906C>T (p.Ala969Val) c.2888C>T (p.Ala963Val) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50720743C>A | CA515260161 | SHANK3 | c.2511C>A (p.Ala837=) n.3095C>A c.1563C>A (p.Ala521=) c.1053C>A (p.Ala351=) c.*1509C>A (n.*1509C>A) c.2907C>A (p.Ala969=) c.2889C>A (p.Ala963=) | dbSNP gnomAD v4 |
22 | g.50720743C= | CA2411007791 | SHANK3 | c.2511C= (p.Ala837=) n.3095C= c.1563C= (p.Ala521=) c.1053C= (p.Ala351=) c.*1509C= (n.*1509C=) c.2907C= (p.Ala969=) c.2889C= (p.Ala963=) | |
22 | g.50720743C>G | CA515260162 | SHANK3 | c.2511C>G (p.Ala837=) n.3095C>G c.1563C>G (p.Ala521=) c.1053C>G (p.Ala351=) c.*1509C>G (n.*1509C>G) c.2907C>G (p.Ala969=) c.2889C>G (p.Ala963=) | gnomAD v4 |
22 | g.50720743C>T | CA325578267 | SHANK3 | c.2511C>T (p.Ala837=) n.3095C>T c.1563C>T (p.Ala521=) c.1053C>T (p.Ala351=) c.*1509C>T (n.*1509C>T) c.2907C>T (p.Ala969=) c.2889C>T (p.Ala963=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720744del | CA2657583397 | SHANK3 | c.2512del (p.Val838TrpfsTer?) n.3096del c.1564del (p.Val522TrpfsTer?) c.1054del (p.Val352TrpfsTer?) c.*1510del (n.*1510del) c.2908del (p.Val970TrpfsTer?) c.2890del (p.Val964TrpfsTer?) | gnomAD v4 |
22 | g.50720744G>A | CA515260163 | SHANK3 | c.2512G>A (p.Val838Met) n.3096G>A c.1564G>A (p.Val522Met) c.1054G>A (p.Val352Met) c.*1510G>A (n.*1510G>A) c.2908G>A (p.Val970Met) c.2890G>A (p.Val964Met) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720744G>C | CA515260164 | SHANK3 | c.2512G>C (p.Val838Leu) n.3096G>C c.1564G>C (p.Val522Leu) c.1054G>C (p.Val352Leu) c.*1510G>C (n.*1510G>C) c.2908G>C (p.Val970Leu) c.2890G>C (p.Val964Leu) | gnomAD v4 |
22 | g.50720744G= | CA2411007792 | SHANK3 | c.2512G= (p.Val838=) n.3096G= c.1564G= (p.Val522=) c.1054G= (p.Val352=) c.*1510G= (n.*1510G=) c.2908G= (p.Val970=) c.2890G= (p.Val964=) | |
22 | g.50720744G>T | CA515260165 | SHANK3 | c.2512G>T (p.Val838Leu) n.3096G>T c.1564G>T (p.Val522Leu) c.1054G>T (p.Val352Leu) c.*1510G>T (n.*1510G>T) c.2908G>T (p.Val970Leu) c.2890G>T (p.Val964Leu) | gnomAD v4 |
22 | g.50720745T>A | CA515260166 | SHANK3 | c.2513T>A (p.Val838Glu) n.3097T>A c.1565T>A (p.Val522Glu) c.1055T>A (p.Val352Glu) c.*1511T>A (n.*1511T>A) c.2909T>A (p.Val970Glu) c.2891T>A (p.Val964Glu) | gnomAD v4 |
22 | g.50720745T>C | CA515260167 | SHANK3 | c.2513T>C (p.Val838Ala) n.3097T>C c.1565T>C (p.Val522Ala) c.1055T>C (p.Val352Ala) c.*1511T>C (n.*1511T>C) c.2909T>C (p.Val970Ala) c.2891T>C (p.Val964Ala) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50720745T>G | CA515260168 | SHANK3 | c.2513T>G (p.Val838Gly) n.3097T>G c.1565T>G (p.Val522Gly) c.1055T>G (p.Val352Gly) c.*1511T>G (n.*1511T>G) c.2909T>G (p.Val970Gly) c.2891T>G (p.Val964Gly) | |
22 | g.50720745T= | CA2411007793 | SHANK3 | c.2513T= (p.Val838=) n.3097T= c.1565T= (p.Val522=) c.1055T= (p.Val352=) c.*1511T= (n.*1511T=) c.2909T= (p.Val970=) c.2891T= (p.Val964=) | |
22 | g.50720746G>A | CA515260169 | SHANK3 | c.2514G>A (p.Val838=) n.3098G>A c.1566G>A (p.Val522=) c.1056G>A (p.Val352=) c.*1512G>A (n.*1512G>A) c.2910G>A (p.Val970=) c.2892G>A (p.Val964=) | gnomAD v4 |
22 | g.50720746G>C | CA515260170 | SHANK3 | c.2514G>C (p.Val838=) n.3098G>C c.1566G>C (p.Val522=) c.1056G>C (p.Val352=) c.*1512G>C (n.*1512G>C) c.2910G>C (p.Val970=) c.2892G>C (p.Val964=) | dbSNP gnomAD v4 |
22 | g.50720746G= | CA2411007794 | SHANK3 | c.2514G= (p.Val838=) n.3098G= c.1566G= (p.Val522=) c.1056G= (p.Val352=) c.*1512G= (n.*1512G=) c.2910G= (p.Val970=) c.2892G= (p.Val964=) | |
22 | g.50720746G>T | CA515260171 | SHANK3 | c.2514G>T (p.Val838=) n.3098G>T c.1566G>T (p.Val522=) c.1056G>T (p.Val352=) c.*1512G>T (n.*1512G>T) c.2910G>T (p.Val970=) c.2892G>T (p.Val964=) | gnomAD v4 |
22 | g.50720748del | CA2657583398 | SHANK3 | c.2516del (p.Gly839AlafsTer?) n.3100del c.1568del (p.Gly523AlafsTer?) c.1058del (p.Gly353AlafsTer?) c.*1514del (n.*1514del) c.2912del (p.Gly971AlafsTer?) c.2894del (p.Gly965AlafsTer?) | gnomAD v4 |
22 | g.50720747_50720748del | CA2819316001 | SHANK3 | c.2515_2516del (p.Gly839GlnfsTer?) n.3099_3100del c.1567_1568del (p.Gly523GlnfsTer?) c.1057_1058del (p.Gly353GlnfsTer?) c.*1513_*1514del (n.*1513_*1514del) c.2911_2912del (p.Gly971GlnfsTer?) c.2893_2894del (p.Gly965GlnfsTer?) | |
22 | g.50720747G>A | CA515260174 | SHANK3 | c.2515G>A (p.Gly839Ser) n.3099G>A c.1567G>A (p.Gly523Ser) c.1057G>A (p.Gly353Ser) c.*1513G>A (n.*1513G>A) c.2911G>A (p.Gly971Ser) c.2893G>A (p.Gly965Ser) | gnomAD v4 |
22 | g.50720747G>C | CA515260172 | SHANK3 | c.2515G>C (p.Gly839Arg) n.3099G>C c.1567G>C (p.Gly523Arg) c.1057G>C (p.Gly353Arg) c.*1513G>C (n.*1513G>C) c.2911G>C (p.Gly971Arg) c.2893G>C (p.Gly965Arg) | gnomAD v4 |
22 | g.50720747G>T | CA515260173 | SHANK3 | c.2515G>T (p.Gly839Cys) n.3099G>T c.1567G>T (p.Gly523Cys) c.1057G>T (p.Gly353Cys) c.*1513G>T (n.*1513G>T) c.2911G>T (p.Gly971Cys) c.2893G>T (p.Gly965Cys) | gnomAD v4 |
22 | g.50720748G>A | CA515260175 | SHANK3 | c.2516G>A (p.Gly839Asp) n.3100G>A c.1568G>A (p.Gly523Asp) c.1058G>A (p.Gly353Asp) c.*1514G>A (n.*1514G>A) c.2912G>A (p.Gly971Asp) c.2894G>A (p.Gly965Asp) | gnomAD v4 |
22 | g.50720748G>C | CA515260176 | SHANK3 | c.2516G>C (p.Gly839Ala) n.3100G>C c.1568G>C (p.Gly523Ala) c.1058G>C (p.Gly353Ala) c.*1514G>C (n.*1514G>C) c.2912G>C (p.Gly971Ala) c.2894G>C (p.Gly965Ala) | |
22 | g.50720748G>T | CA515260177 | SHANK3 | c.2516G>T (p.Gly839Val) n.3100G>T c.1568G>T (p.Gly523Val) c.1058G>T (p.Gly353Val) c.*1514G>T (n.*1514G>T) c.2912G>T (p.Gly971Val) c.2894G>T (p.Gly965Val) | gnomAD v4 |
22 | g.50720749C>A | CA515260178 | SHANK3 | c.2517C>A (p.Gly839=) n.3101C>A c.1569C>A (p.Gly523=) c.1059C>A (p.Gly353=) c.*1515C>A (n.*1515C>A) c.2913C>A (p.Gly971=) c.2895C>A (p.Gly965=) | gnomAD v4 |
22 | g.50720749C= | CA2411007795 | SHANK3 | c.2517C= (p.Gly839=) n.3101C= c.1569C= (p.Gly523=) c.1059C= (p.Gly353=) c.*1515C= (n.*1515C=) c.2913C= (p.Gly971=) c.2895C= (p.Gly965=) | |
22 | g.50720749C>G | CA515260179 | SHANK3 | c.2517C>G (p.Gly839=) n.3101C>G c.1569C>G (p.Gly523=) c.1059C>G (p.Gly353=) c.*1515C>G (n.*1515C>G) c.2913C>G (p.Gly971=) c.2895C>G (p.Gly965=) | gnomAD v4 |
22 | g.50720749C>T | CA515260180 | SHANK3 | c.2517C>T (p.Gly839=) n.3101C>T c.1569C>T (p.Gly523=) c.1059C>T (p.Gly353=) c.*1515C>T (n.*1515C>T) c.2913C>T (p.Gly971=) c.2895C>T (p.Gly965=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720750A>C | CA515260181 | SHANK3 | c.2518A>C (p.Ser840Arg) n.3102A>C c.1570A>C (p.Ser524Arg) c.1060A>C (p.Ser354Arg) c.*1516A>C (n.*1516A>C) c.2914A>C (p.Ser972Arg) c.2896A>C (p.Ser966Arg) | gnomAD v4 |
22 | g.50720750A>G | CA515260182 | SHANK3 | c.2518A>G (p.Ser840Gly) n.3102A>G c.1570A>G (p.Ser524Gly) c.1060A>G (p.Ser354Gly) c.*1516A>G (n.*1516A>G) c.2914A>G (p.Ser972Gly) c.2896A>G (p.Ser966Gly) | gnomAD v4 |
22 | g.50720750A>T | CA515260183 | SHANK3 | c.2518A>T (p.Ser840Cys) n.3102A>T c.1570A>T (p.Ser524Cys) c.1060A>T (p.Ser354Cys) c.*1516A>T (n.*1516A>T) c.2914A>T (p.Ser972Cys) c.2896A>T (p.Ser966Cys) | gnomAD v4 |
22 | g.50720751G>A | CA515260184 | SHANK3 | c.2519G>A (p.Ser840Asn) n.3103G>A c.1571G>A (p.Ser524Asn) c.1061G>A (p.Ser354Asn) c.*1517G>A (n.*1517G>A) c.2915G>A (p.Ser972Asn) c.2897G>A (p.Ser966Asn) | gnomAD v4 |
22 | g.50720751G>C | CA515260185 | SHANK3 | c.2519G>C (p.Ser840Thr) n.3103G>C c.1571G>C (p.Ser524Thr) c.1061G>C (p.Ser354Thr) c.*1517G>C (n.*1517G>C) c.2915G>C (p.Ser972Thr) c.2897G>C (p.Ser966Thr) | gnomAD v4 |
22 | g.50720751G= | CA2411007796 | SHANK3 | c.2519G= (p.Ser840=) n.3103G= c.1571G= (p.Ser524=) c.1061G= (p.Ser354=) c.*1517G= (n.*1517G=) c.2915G= (p.Ser972=) c.2897G= (p.Ser966=) | |
22 | g.50720751G>T | CA515260186 | SHANK3 | c.2519G>T (p.Ser840Ile) n.3103G>T c.1571G>T (p.Ser524Ile) c.1061G>T (p.Ser354Ile) c.*1517G>T (n.*1517G>T) c.2915G>T (p.Ser972Ile) c.2897G>T (p.Ser966Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720752C>A | CA515260187 | SHANK3 | c.2520C>A (p.Ser840Arg) n.3104C>A c.1572C>A (p.Ser524Arg) c.1062C>A (p.Ser354Arg) c.*1518C>A (n.*1518C>A) c.2916C>A (p.Ser972Arg) c.2898C>A (p.Ser966Arg) | gnomAD v4 |
22 | g.50720752C= | CA2411007797 | SHANK3 | c.2520C= (p.Ser840=) n.3104C= c.1572C= (p.Ser524=) c.1062C= (p.Ser354=) c.*1518C= (n.*1518C=) c.2916C= (p.Ser972=) c.2898C= (p.Ser966=) | |
22 | g.50720752C>G | CA515260188 | SHANK3 | c.2520C>G (p.Ser840Arg) n.3104C>G c.1572C>G (p.Ser524Arg) c.1062C>G (p.Ser354Arg) c.*1518C>G (n.*1518C>G) c.2916C>G (p.Ser972Arg) c.2898C>G (p.Ser966Arg) | gnomAD v4 |
22 | g.50720752C>T | CA10325938 | SHANK3 | c.2520C>T (p.Ser840=) n.3104C>T c.1572C>T (p.Ser524=) c.1062C>T (p.Ser354=) c.*1518C>T (n.*1518C>T) c.2916C>T (p.Ser972=) c.2898C>T (p.Ser966=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720755del | CA2657583399 | SHANK3 | c.2523del (p.Gly842ValfsTer?) n.3107del c.1575del (p.Gly526ValfsTer?) c.1065del (p.Gly356ValfsTer?) c.*1521del (n.*1521del) c.2919del (p.Gly974ValfsTer?) c.2901del (p.Gly968ValfsTer?) | gnomAD v4 |
22 | g.50720753C>A | CA515260190 | SHANK3 | c.2521C>A (p.Pro841Thr) n.3105C>A c.1573C>A (p.Pro525Thr) c.1063C>A (p.Pro355Thr) c.*1519C>A (n.*1519C>A) c.2917C>A (p.Pro973Thr) c.2899C>A (p.Pro967Thr) | gnomAD v4 |
22 | g.50720753C= | CA2411007798 | SHANK3 | c.2521C= (p.Pro841=) n.3105C= c.1573C= (p.Pro525=) c.1063C= (p.Pro355=) c.*1519C= (n.*1519C=) c.2917C= (p.Pro973=) c.2899C= (p.Pro967=) | |
22 | g.50720753C>G | CA515260189 | SHANK3 | c.2521C>G (p.Pro841Ala) n.3105C>G c.1573C>G (p.Pro525Ala) c.1063C>G (p.Pro355Ala) c.*1519C>G (n.*1519C>G) c.2917C>G (p.Pro973Ala) c.2899C>G (p.Pro967Ala) | |
22 | g.50720753C>T | CA10325939 | SHANK3 | c.2521C>T (p.Pro841Ser) n.3105C>T c.1573C>T (p.Pro525Ser) c.1063C>T (p.Pro355Ser) c.*1519C>T (n.*1519C>T) c.2917C>T (p.Pro973Ser) c.2899C>T (p.Pro967Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720754C>A | CA515260191 | SHANK3 | c.2522C>A (p.Pro841His) n.3106C>A c.1574C>A (p.Pro525His) c.1064C>A (p.Pro355His) c.*1520C>A (n.*1520C>A) c.2918C>A (p.Pro973His) c.2900C>A (p.Pro967His) | gnomAD v4 |
22 | g.50720754C= | CA2411007799 | SHANK3 | c.2522C= (p.Pro841=) n.3106C= c.1574C= (p.Pro525=) c.1064C= (p.Pro355=) c.*1520C= (n.*1520C=) c.2918C= (p.Pro973=) c.2900C= (p.Pro967=) | |
22 | g.50720754C>G | CA515260192 | SHANK3 | c.2522C>G (p.Pro841Arg) n.3106C>G c.1574C>G (p.Pro525Arg) c.1064C>G (p.Pro355Arg) c.*1520C>G (n.*1520C>G) c.2918C>G (p.Pro973Arg) c.2900C>G (p.Pro967Arg) | gnomAD v4 |
22 | g.50720754C>T | CA515260193 | SHANK3 | c.2522C>T (p.Pro841Leu) n.3106C>T c.1574C>T (p.Pro525Leu) c.1064C>T (p.Pro355Leu) c.*1520C>T (n.*1520C>T) c.2918C>T (p.Pro973Leu) c.2900C>T (p.Pro967Leu) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720755C>A | CA515260196 | SHANK3 | c.2523C>A (p.Pro841=) n.3107C>A c.1575C>A (p.Pro525=) c.1065C>A (p.Pro355=) c.*1521C>A (n.*1521C>A) c.2919C>A (p.Pro973=) c.2901C>A (p.Pro967=) | gnomAD v4 |
22 | g.50720755C= | CA2411007800 | SHANK3 | c.2523C= (p.Pro841=) n.3107C= c.1575C= (p.Pro525=) c.1065C= (p.Pro355=) c.*1521C= (n.*1521C=) c.2919C= (p.Pro973=) c.2901C= (p.Pro967=) | |
22 | g.50720755C>G | CA515260195 | SHANK3 | c.2523C>G (p.Pro841=) n.3107C>G c.1575C>G (p.Pro525=) c.1065C>G (p.Pro355=) c.*1521C>G (n.*1521C>G) c.2919C>G (p.Pro973=) c.2901C>G (p.Pro967=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50720755C>T | CA515260194 | SHANK3 | c.2523C>T (p.Pro841=) n.3107C>T c.1575C>T (p.Pro525=) c.1065C>T (p.Pro355=) c.*1521C>T (n.*1521C>T) c.2919C>T (p.Pro973=) c.2901C>T (p.Pro967=) | dbSNP gnomAD v4 |
22 | g.50720755_50720756insT | CA2657583400 | SHANK3 | c.2523_2524insT (p.Gly842TrpfsTer?) n.3107_3108insT c.1575_1576insT (p.Gly526TrpfsTer?) c.1065_1066insT (p.Gly356TrpfsTer?) c.*1521_*1522insT (n.*1521_*1522insT) c.2919_2920insT (p.Gly974TrpfsTer?) c.2901_2902insT (p.Gly968TrpfsTer?) | gnomAD v4 |
22 | g.50720756G>A | CA515260197 | SHANK3 | c.2524G>A (p.Gly842Ser) n.3108G>A c.1576G>A (p.Gly526Ser) c.1066G>A (p.Gly356Ser) c.*1522G>A (n.*1522G>A) c.2920G>A (p.Gly974Ser) c.2902G>A (p.Gly968Ser) | gnomAD v4 |
22 | g.50720756G>C | CA515260198 | SHANK3 | c.2524G>C (p.Gly842Arg) n.3108G>C c.1576G>C (p.Gly526Arg) c.1066G>C (p.Gly356Arg) c.*1522G>C (n.*1522G>C) c.2920G>C (p.Gly974Arg) c.2902G>C (p.Gly968Arg) | gnomAD v4 |
22 | g.50720756G>T | CA515260199 | SHANK3 | c.2524G>T (p.Gly842Cys) n.3108G>T c.1576G>T (p.Gly526Cys) c.1066G>T (p.Gly356Cys) c.*1522G>T (n.*1522G>T) c.2920G>T (p.Gly974Cys) c.2902G>T (p.Gly968Cys) | gnomAD v4 |
22 | g.50720757G>A | CA515260200 | SHANK3 | c.2525G>A (p.Gly842Asp) n.3109G>A c.1577G>A (p.Gly526Asp) c.1067G>A (p.Gly356Asp) c.*1523G>A (n.*1523G>A) c.2921G>A (p.Gly974Asp) c.2903G>A (p.Gly968Asp) | dbSNP gnomAD v4 |
22 | g.50720757G>C | CA515260201 | SHANK3 | c.2525G>C (p.Gly842Ala) n.3109G>C c.1577G>C (p.Gly526Ala) c.1067G>C (p.Gly356Ala) c.*1523G>C (n.*1523G>C) c.2921G>C (p.Gly974Ala) c.2903G>C (p.Gly968Ala) | |
22 | g.50720757G= | CA2411007801 | SHANK3 | c.2525G= (p.Gly842=) n.3109G= c.1577G= (p.Gly526=) c.1067G= (p.Gly356=) c.*1523G= (n.*1523G=) c.2921G= (p.Gly974=) c.2903G= (p.Gly968=) | |
22 | g.50720757G>T | CA515260202 | SHANK3 | c.2525G>T (p.Gly842Val) n.3109G>T c.1577G>T (p.Gly526Val) c.1067G>T (p.Gly356Val) c.*1523G>T (n.*1523G>T) c.2921G>T (p.Gly974Val) c.2903G>T (p.Gly968Val) | gnomAD v4 |
22 | g.50720757_50720758delinsGT | CA2411007802 | SHANK3 | c.2525_2526delinsGT (p.Gly842=) n.3109_3110delinsGT c.1577_1578delinsGT (p.Gly526=) c.1067_1068delinsGT (p.Gly356=) c.*1523_*1524delinsGT (n.*1523_*1524delinsGT) c.2921_2922delinsGT (p.Gly974=) c.2903_2904delinsGT (p.Gly968=) | |
22 | g.50720758del | CA2411007803 | SHANK3 | c.2526del (p.Gly844AlafsTer?) n.3110del c.1578del (p.Gly528AlafsTer?) c.1068del (p.Gly358AlafsTer?) c.*1524del (n.*1524del) c.2922del (p.Gly976AlafsTer?) c.2904del (p.Gly970AlafsTer?) | dbSNP |
22 | g.50720758T>A | CA515260205 | SHANK3 | c.2526T>A (p.Gly842=) n.3110T>A c.1578T>A (p.Gly526=) c.1068T>A (p.Gly356=) c.*1524T>A (n.*1524T>A) c.2922T>A (p.Gly974=) c.2904T>A (p.Gly968=) | |
22 | g.50720758T>C | CA515260203 | SHANK3 | c.2526T>C (p.Gly842=) n.3110T>C c.1578T>C (p.Gly526=) c.1068T>C (p.Gly356=) c.*1524T>C (n.*1524T>C) c.2922T>C (p.Gly974=) c.2904T>C (p.Gly968=) | gnomAD v4 |
22 | g.50720758T>G | CA515260204 | SHANK3 | c.2526T>G (p.Gly842=) n.3110T>G c.1578T>G (p.Gly526=) c.1068T>G (p.Gly356=) c.*1524T>G (n.*1524T>G) c.2922T>G (p.Gly974=) c.2904T>G (p.Gly968=) | |
22 | g.50720758_50720759delinsTC | CA2411007804 | SHANK3 | c.2526_2527delinsTC (p.Gly842=) n.3110_3111delinsTC c.1578_1579delinsTC (p.Gly526=) c.1068_1069delinsTC (p.Gly356=) c.*1524_*1525delinsTC (n.*1524_*1525delinsTC) c.2922_2923delinsTC (p.Gly974=) c.2904_2905delinsTC (p.Gly968=) | |
22 | g.50720759C>A | CA515260206 | SHANK3 | c.2527C>A (p.Pro843Thr) n.3111C>A c.1579C>A (p.Pro527Thr) c.1069C>A (p.Pro357Thr) c.*1525C>A (n.*1525C>A) c.2923C>A (p.Pro975Thr) c.2905C>A (p.Pro969Thr) | gnomAD v4 |
22 | g.50720759C>G | CA515260207 | SHANK3 | c.2527C>G (p.Pro843Ala) n.3111C>G c.1579C>G (p.Pro527Ala) c.1069C>G (p.Pro357Ala) c.*1525C>G (n.*1525C>G) c.2923C>G (p.Pro975Ala) c.2905C>G (p.Pro969Ala) | |
22 | g.50720759C>T | CA515260208 | SHANK3 | c.2527C>T (p.Pro843Ser) n.3111C>T c.1579C>T (p.Pro527Ser) c.1069C>T (p.Pro357Ser) c.*1525C>T (n.*1525C>T) c.2923C>T (p.Pro975Ser) c.2905C>T (p.Pro969Ser) | ClinVar dbSNP gnomAD v4 |
22 | g.50720761del | CA10603523 | SHANK3 | c.2529del (p.Gly844AlafsTer?) n.3113del c.1581del (p.Gly528AlafsTer?) c.1071del (p.Gly358AlafsTer?) c.*1527del (n.*1527del) c.2925del (p.Gly976AlafsTer?) c.2907del (p.Gly970AlafsTer?) | ClinVar dbSNP gnomAD v4 |
22 | g.50720760C>A | CA515260209 | SHANK3 | c.2528C>A (p.Pro843His) n.3112C>A c.1580C>A (p.Pro527His) c.1070C>A (p.Pro357His) c.*1526C>A (n.*1526C>A) c.2924C>A (p.Pro975His) c.2906C>A (p.Pro969His) | gnomAD v4 |
22 | g.50720760C= | CA2411007805 | SHANK3 | c.2528C= (p.Pro843=) n.3112C= c.1580C= (p.Pro527=) c.1070C= (p.Pro357=) c.*1526C= (n.*1526C=) c.2924C= (p.Pro975=) c.2906C= (p.Pro969=) | |
22 | g.50720760C>G | CA515260210 | SHANK3 | c.2528C>G (p.Pro843Arg) n.3112C>G c.1580C>G (p.Pro527Arg) c.1070C>G (p.Pro357Arg) c.*1526C>G (n.*1526C>G) c.2924C>G (p.Pro975Arg) c.2906C>G (p.Pro969Arg) | gnomAD v4 |
22 | g.50720760C>T | CA515260211 | SHANK3 | c.2528C>T (p.Pro843Leu) n.3112C>T c.1580C>T (p.Pro527Leu) c.1070C>T (p.Pro357Leu) c.*1526C>T (n.*1526C>T) c.2924C>T (p.Pro975Leu) c.2906C>T (p.Pro969Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720761C>A | CA515260212 | SHANK3 | c.2529C>A (p.Pro843=) n.3113C>A c.1581C>A (p.Pro527=) c.1071C>A (p.Pro357=) c.*1527C>A (n.*1527C>A) c.2925C>A (p.Pro975=) c.2907C>A (p.Pro969=) | ClinVar dbSNP gnomAD v4 |
22 | g.50720761C= | CA2411007806 | SHANK3 | c.2529C= (p.Pro843=) n.3113C= c.1581C= (p.Pro527=) c.1071C= (p.Pro357=) c.*1527C= (n.*1527C=) c.2925C= (p.Pro975=) c.2907C= (p.Pro969=) | |
22 | g.50720761C>G | CA515260213 | SHANK3 | c.2529C>G (p.Pro843=) n.3113C>G c.1581C>G (p.Pro527=) c.1071C>G (p.Pro357=) c.*1527C>G (n.*1527C>G) c.2925C>G (p.Pro975=) c.2907C>G (p.Pro969=) | gnomAD v4 |
22 | g.50720761C>T | CA515260214 | SHANK3 | c.2529C>T (p.Pro843=) n.3113C>T c.1581C>T (p.Pro527=) c.1071C>T (p.Pro357=) c.*1527C>T (n.*1527C>T) c.2925C>T (p.Pro975=) c.2907C>T (p.Pro969=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720768_50720770dup | CA2577768680 | SHANK3 | c.2536_2538dup (p.Gly846_Ser847insGly) n.3120_3122dup c.1588_1590dup (p.Gly530_Ser531insGly) c.1078_1080dup (p.Gly360_Ser361insGly) c.*1534_*1536dup (n.*1534_*1536dup) c.2932_2934dup (p.Gly978_Ser979insGly) c.2914_2916dup (p.Gly972_Ser973insGly) | gnomAD v4 |
22 | g.50720768_50720770del | CA640358968 | SHANK3 | c.2536_2538del (p.Gly846del) n.3120_3122del c.1588_1590del (p.Gly530del) c.1078_1080del (p.Gly360del) c.*1534_*1536del (n.*1534_*1536del) c.2932_2934del (p.Gly978del) c.2914_2916del (p.Gly972del) | gnomAD v2 gnomAD v4 |
22 | g.50720762G>A | CA515260215 | SHANK3 | c.2530G>A (p.Gly844Ser) n.3114G>A c.1582G>A (p.Gly528Ser) c.1072G>A (p.Gly358Ser) c.*1528G>A (n.*1528G>A) c.2926G>A (p.Gly976Ser) c.2908G>A (p.Gly970Ser) | gnomAD v4 |
22 | g.50720762G>C | CA515260216 | SHANK3 | c.2530G>C (p.Gly844Arg) n.3114G>C c.1582G>C (p.Gly528Arg) c.1072G>C (p.Gly358Arg) c.*1528G>C (n.*1528G>C) c.2926G>C (p.Gly976Arg) c.2908G>C (p.Gly970Arg) | gnomAD v4 |
22 | g.50720762G>T | CA515260217 | SHANK3 | c.2530G>T (p.Gly844Cys) n.3114G>T c.1582G>T (p.Gly528Cys) c.1072G>T (p.Gly358Cys) c.*1528G>T (n.*1528G>T) c.2926G>T (p.Gly976Cys) c.2908G>T (p.Gly970Cys) | gnomAD v4 |
22 | g.50720763G>A | CA515260218 | SHANK3 | c.2531G>A (p.Gly844Asp) n.3115G>A c.1583G>A (p.Gly528Asp) c.1073G>A (p.Gly358Asp) c.*1529G>A (n.*1529G>A) c.2927G>A (p.Gly976Asp) c.2909G>A (p.Gly970Asp) | gnomAD v4 |
22 | g.50720763G>C | CA515260220 | SHANK3 | c.2531G>C (p.Gly844Ala) n.3115G>C c.1583G>C (p.Gly528Ala) c.1073G>C (p.Gly358Ala) c.*1529G>C (n.*1529G>C) c.2927G>C (p.Gly976Ala) c.2909G>C (p.Gly970Ala) | gnomAD v4 |
22 | g.50720763G>T | CA515260219 | SHANK3 | c.2531G>T (p.Gly844Val) n.3115G>T c.1583G>T (p.Gly528Val) c.1073G>T (p.Gly358Val) c.*1529G>T (n.*1529G>T) c.2927G>T (p.Gly976Val) c.2909G>T (p.Gly970Val) | gnomAD v4 |
22 | g.50720764del | CA2657583401 | SHANK3 | c.2532del (p.Gly845AlafsTer?) n.3116del c.1584del (p.Gly529AlafsTer?) c.1074del (p.Gly359AlafsTer?) c.*1530del (n.*1530del) c.2928del (p.Gly977AlafsTer?) c.2910del (p.Gly971AlafsTer?) | gnomAD v4 |
22 | g.50720764C>A | CA515260221 | SHANK3 | c.2532C>A (p.Gly844=) n.3116C>A c.1584C>A (p.Gly528=) c.1074C>A (p.Gly358=) c.*1530C>A (n.*1530C>A) c.2928C>A (p.Gly976=) c.2910C>A (p.Gly970=) | gnomAD v4 |
22 | g.50720764C= | CA2411007807 | SHANK3 | c.2532C= (p.Gly844=) n.3116C= c.1584C= (p.Gly528=) c.1074C= (p.Gly358=) c.*1530C= (n.*1530C=) c.2928C= (p.Gly976=) c.2910C= (p.Gly970=) | |
22 | g.50720764C>G | CA515260222 | SHANK3 | c.2532C>G (p.Gly844=) n.3116C>G c.1584C>G (p.Gly528=) c.1074C>G (p.Gly358=) c.*1530C>G (n.*1530C>G) c.2928C>G (p.Gly976=) c.2910C>G (p.Gly970=) | gnomAD v4 |
22 | g.50720764C>T | CA515260223 | SHANK3 | c.2532C>T (p.Gly844=) n.3116C>T c.1584C>T (p.Gly528=) c.1074C>T (p.Gly358=) c.*1530C>T (n.*1530C>T) c.2928C>T (p.Gly976=) c.2910C>T (p.Gly970=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50720765G>A | CA515260224 | SHANK3 | c.2533G>A (p.Gly845Ser) n.3117G>A c.1585G>A (p.Gly529Ser) c.1075G>A (p.Gly359Ser) c.*1531G>A (n.*1531G>A) c.2929G>A (p.Gly977Ser) c.2911G>A (p.Gly971Ser) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50720765G>C | CA515260225 | SHANK3 | c.2533G>C (p.Gly845Arg) n.3117G>C c.1585G>C (p.Gly529Arg) c.1075G>C (p.Gly359Arg) c.*1531G>C (n.*1531G>C) c.2929G>C (p.Gly977Arg) c.2911G>C (p.Gly971Arg) | gnomAD v4 |
22 | g.50720765G= | CA2411007808 | SHANK3 | c.2533G= (p.Gly845=) n.3117G= c.1585G= (p.Gly529=) c.1075G= (p.Gly359=) c.*1531G= (n.*1531G=) c.2929G= (p.Gly977=) c.2911G= (p.Gly971=) | |
22 | g.50720765G>T | CA515260226 | SHANK3 | c.2533G>T (p.Gly845Cys) n.3117G>T c.1585G>T (p.Gly529Cys) c.1075G>T (p.Gly359Cys) c.*1531G>T (n.*1531G>T) c.2929G>T (p.Gly977Cys) c.2911G>T (p.Gly971Cys) | gnomAD v4 |
22 | g.50720766dup | CA2411007809 | SHANK3 | c.2534dup (p.Gly846ArgfsTer?) n.3118dup c.1586dup (p.Gly530ArgfsTer?) c.1076dup (p.Gly360ArgfsTer?) c.*1532dup (n.*1532dup) c.2930dup (p.Gly978ArgfsTer?) c.2912dup (p.Gly972ArgfsTer?) | dbSNP |
22 | g.50720766G>A | CA515260227 | SHANK3 | c.2534G>A (p.Gly845Asp) n.3118G>A c.1586G>A (p.Gly529Asp) c.1076G>A (p.Gly359Asp) c.*1532G>A (n.*1532G>A) c.2930G>A (p.Gly977Asp) c.2912G>A (p.Gly971Asp) | gnomAD v4 |
22 | g.50720766G>C | CA515260228 | SHANK3 | c.2534G>C (p.Gly845Ala) n.3118G>C c.1586G>C (p.Gly529Ala) c.1076G>C (p.Gly359Ala) c.*1532G>C (n.*1532G>C) c.2930G>C (p.Gly977Ala) c.2912G>C (p.Gly971Ala) | |
22 | g.50720766G>T | CA515260229 | SHANK3 | c.2534G>T (p.Gly845Val) n.3118G>T c.1586G>T (p.Gly529Val) c.1076G>T (p.Gly359Val) c.*1532G>T (n.*1532G>T) c.2930G>T (p.Gly977Val) c.2912G>T (p.Gly971Val) | gnomAD v4 |
22 | g.50720767del | CA2657583402 | SHANK3 | c.2535del (p.Gly846AlafsTer?) n.3119del c.1587del (p.Gly530AlafsTer?) c.1077del (p.Gly360AlafsTer?) c.*1533del (n.*1533del) c.2931del (p.Gly978AlafsTer?) c.2913del (p.Gly972AlafsTer?) | gnomAD v4 |
22 | g.50720767C>A | CA515260230 | SHANK3 | c.2535C>A (p.Gly845=) n.3119C>A c.1587C>A (p.Gly529=) c.1077C>A (p.Gly359=) c.*1533C>A (n.*1533C>A) c.2931C>A (p.Gly977=) c.2913C>A (p.Gly971=) | gnomAD v4 |
22 | g.50720767C= | CA2411007810 | SHANK3 | c.2535C= (p.Gly845=) n.3119C= c.1587C= (p.Gly529=) c.1077C= (p.Gly359=) c.*1533C= (n.*1533C=) c.2931C= (p.Gly977=) c.2913C= (p.Gly971=) | |
22 | g.50720767C>G | CA515260231 | SHANK3 | c.2535C>G (p.Gly845=) n.3119C>G c.1587C>G (p.Gly529=) c.1077C>G (p.Gly359=) c.*1533C>G (n.*1533C>G) c.2931C>G (p.Gly977=) c.2913C>G (p.Gly971=) | dbSNP |
22 | g.50720767C>T | CA515260232 | SHANK3 | c.2535C>T (p.Gly845=) n.3119C>T c.1587C>T (p.Gly529=) c.1077C>T (p.Gly359=) c.*1533C>T (n.*1533C>T) c.2931C>T (p.Gly977=) c.2913C>T (p.Gly971=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720767_50720787delinsGGCAG | CA2580099958 | SHANK3 | c.2535_2555delinsGGCAG (p.Gly846AlafsTer?) n.3119_3139delinsGGCAG c.1587_1607delinsGGCAG (p.Gly530AlafsTer?) c.1077_1097delinsGGCAG (p.Gly360AlafsTer?) c.*1533_*1553delinsGGCAG (n.*1533_*1553delinsGGCAG) c.2931_2951delinsGGCAG (p.Gly978AlafsTer?) c.2913_2933delinsGGCAG (p.Gly972AlafsTer?) | ClinVar dbSNP |
22 | g.50720768G>A | CA515260236 | SHANK3 | c.2536G>A (p.Gly846Ser) n.3120G>A c.1588G>A (p.Gly530Ser) c.1078G>A (p.Gly360Ser) c.*1534G>A (n.*1534G>A) c.2932G>A (p.Gly978Ser) c.2914G>A (p.Gly972Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720768G>C | CA515260235 | SHANK3 | c.2536G>C (p.Gly846Arg) n.3120G>C c.1588G>C (p.Gly530Arg) c.1078G>C (p.Gly360Arg) c.*1534G>C (n.*1534G>C) c.2932G>C (p.Gly978Arg) c.2914G>C (p.Gly972Arg) | gnomAD v4 |
22 | g.50720768G= | CA2411007812 | SHANK3 | c.2536G= (p.Gly846=) n.3120G= c.1588G= (p.Gly530=) c.1078G= (p.Gly360=) c.*1534G= (n.*1534G=) c.2932G= (p.Gly978=) c.2914G= (p.Gly972=) | |
22 | g.50720768G>T | CA515260233 | SHANK3 | c.2536G>T (p.Gly846Cys) n.3120G>T c.1588G>T (p.Gly530Cys) c.1078G>T (p.Gly360Cys) c.*1534G>T (n.*1534G>T) c.2932G>T (p.Gly978Cys) c.2914G>T (p.Gly972Cys) | gnomAD v4 |
22 | g.50720768_50720771delinsGGCA | CA2411007811 | SHANK3 | c.2536_2539delinsGGCA (p.Gly846=) n.3120_3123delinsGGCA c.1588_1591delinsGGCA (p.Gly530=) c.1078_1081delinsGGCA (p.Gly360=) c.*1534_*1537delinsGGCA (n.*1534_*1537delinsGGCA) c.2932_2935delinsGGCA (p.Gly978=) c.2914_2917delinsGGCA (p.Gly972=) | |
22 | g.50720769G>A | CA515260237 | SHANK3 | c.2537G>A (p.Gly846Asp) n.3121G>A c.1589G>A (p.Gly530Asp) c.1079G>A (p.Gly360Asp) c.*1535G>A (n.*1535G>A) c.2933G>A (p.Gly978Asp) c.2915G>A (p.Gly972Asp) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50720769G>C | CA515260238 | SHANK3 | c.2537G>C (p.Gly846Ala) n.3121G>C c.1589G>C (p.Gly530Ala) c.1079G>C (p.Gly360Ala) c.*1535G>C (n.*1535G>C) c.2933G>C (p.Gly978Ala) c.2915G>C (p.Gly972Ala) | gnomAD v4 |
22 | g.50720769G= | CA2411007813 | SHANK3 | c.2537G= (p.Gly846=) n.3121G= c.1589G= (p.Gly530=) c.1079G= (p.Gly360=) c.*1535G= (n.*1535G=) c.2933G= (p.Gly978=) c.2915G= (p.Gly972=) | |
22 | g.50720769G>T | CA515260239 | SHANK3 | c.2537G>T (p.Gly846Val) n.3121G>T c.1589G>T (p.Gly530Val) c.1079G>T (p.Gly360Val) c.*1535G>T (n.*1535G>T) c.2933G>T (p.Gly978Val) c.2915G>T (p.Gly972Val) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720769_50720773delinsGCAGC | CA2411007814 | SHANK3 | c.2537_2541delinsGCAGC (p.Gly846=) n.3121_3125delinsGCAGC c.1589_1593delinsGCAGC (p.Gly530=) c.1079_1083delinsGCAGC (p.Gly360=) c.*1535_*1539delinsGCAGC (n.*1535_*1539delinsGCAGC) c.2933_2937delinsGCAGC (p.Gly978=) c.2915_2919delinsGCAGC (p.Gly972=) | |
22 | g.50720771_50720773dup | CA2657583403 | SHANK3 | c.2539_2541dup (p.Ser847_Phe848insSer) n.3123_3125dup c.1591_1593dup (p.Ser531_Phe532insSer) c.1081_1083dup (p.Ser361_Phe362insSer) c.*1537_*1539dup (n.*1537_*1539dup) c.2935_2937dup (p.Ser979_Phe980insSer) c.2917_2919dup (p.Ser973_Phe974insSer) | gnomAD v4 |
22 | g.50720771_50720773del | CA754092984 | SHANK3 | c.2539_2541del (p.Ser847del) n.3123_3125del c.1591_1593del (p.Ser531del) c.1081_1083del (p.Ser361del) c.*1537_*1539del (n.*1537_*1539del) c.2935_2937del (p.Ser979del) c.2917_2919del (p.Ser973del) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720770C>A | CA515260240 | SHANK3 | c.2538C>A (p.Gly846=) n.3122C>A c.1590C>A (p.Gly530=) c.1080C>A (p.Gly360=) c.*1536C>A (n.*1536C>A) c.2934C>A (p.Gly978=) c.2916C>A (p.Gly972=) | gnomAD v4 |
22 | g.50720770C= | CA2411007815 | SHANK3 | c.2538C= (p.Gly846=) n.3122C= c.1590C= (p.Gly530=) c.1080C= (p.Gly360=) c.*1536C= (n.*1536C=) c.2934C= (p.Gly978=) c.2916C= (p.Gly972=) | |
22 | g.50720770C>G | CA515260241 | SHANK3 | c.2538C>G (p.Gly846=) n.3122C>G c.1590C>G (p.Gly530=) c.1080C>G (p.Gly360=) c.*1536C>G (n.*1536C>G) c.2934C>G (p.Gly978=) c.2916C>G (p.Gly972=) | gnomAD v4 |
22 | g.50720770C>T | CA515260242 | SHANK3 | c.2538C>T (p.Gly846=) n.3122C>T c.1590C>T (p.Gly530=) c.1080C>T (p.Gly360=) c.*1536C>T (n.*1536C>T) c.2934C>T (p.Gly978=) c.2916C>T (p.Gly972=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50720770_50720773del | CA1139667200 | SHANK3 | c.2538_2541del (p.Phe848ProfsTer?) n.3122_3125del c.1590_1593del (p.Phe532ProfsTer?) c.1080_1083del (p.Phe362ProfsTer?) c.*1536_*1539del (n.*1536_*1539del) c.2934_2937del (p.Phe980ProfsTer?) c.2916_2919del (p.Phe974ProfsTer?) | ClinVar dbSNP |
22 | g.50720771A= | CA2411007816 | SHANK3 | c.2539A= (p.Ser847=) n.3123A= c.1591A= (p.Ser531=) c.1081A= (p.Ser361=) c.*1537A= (n.*1537A=) c.2935A= (p.Ser979=) c.2917A= (p.Ser973=) | |
22 | g.50720771A>C | CA515260243 | SHANK3 | c.2539A>C (p.Ser847Arg) n.3123A>C c.1591A>C (p.Ser531Arg) c.1081A>C (p.Ser361Arg) c.*1537A>C (n.*1537A>C) c.2935A>C (p.Ser979Arg) c.2917A>C (p.Ser973Arg) | gnomAD v4 |
22 | g.50720771A>G | CA10325940 | SHANK3 | c.2539A>G (p.Ser847Gly) n.3123A>G c.1591A>G (p.Ser531Gly) c.1081A>G (p.Ser361Gly) c.*1537A>G (n.*1537A>G) c.2935A>G (p.Ser979Gly) c.2917A>G (p.Ser973Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50720771A>T | CA515260245 | SHANK3 | c.2539A>T (p.Ser847Cys) n.3123A>T c.1591A>T (p.Ser531Cys) c.1081A>T (p.Ser361Cys) c.*1537A>T (n.*1537A>T) c.2935A>T (p.Ser979Cys) c.2917A>T (p.Ser973Cys) | |
22 | g.50720772G>A | CA515260246 | SHANK3 | c.2540G>A (p.Ser847Asn) n.3124G>A c.1592G>A (p.Ser531Asn) c.1082G>A (p.Ser361Asn) c.*1538G>A (n.*1538G>A) c.2936G>A (p.Ser979Asn) c.2918G>A (p.Ser973Asn) | gnomAD v4 |
22 | g.50720772G>C | CA515260247 | SHANK3 | c.2540G>C (p.Ser847Thr) n.3124G>C c.1592G>C (p.Ser531Thr) c.1082G>C (p.Ser361Thr) c.*1538G>C (n.*1538G>C) c.2936G>C (p.Ser979Thr) c.2918G>C (p.Ser973Thr) | gnomAD v4 |
22 | g.50720772G>T | CA515260248 | SHANK3 | c.2540G>T (p.Ser847Ile) n.3124G>T c.1592G>T (p.Ser531Ile) c.1082G>T (p.Ser361Ile) c.*1538G>T (n.*1538G>T) c.2936G>T (p.Ser979Ile) c.2918G>T (p.Ser973Ile) | gnomAD v4 |
22 | g.50720773C>A | CA515260251 | SHANK3 | c.2541C>A (p.Ser847Arg) n.3125C>A c.1593C>A (p.Ser531Arg) c.1083C>A (p.Ser361Arg) c.*1539C>A (n.*1539C>A) c.2937C>A (p.Ser979Arg) c.2919C>A (p.Ser973Arg) | gnomAD v4 |
22 | g.50720773C= | CA2411007817 | SHANK3 | c.2541C= (p.Ser847=) n.3125C= c.1593C= (p.Ser531=) c.1083C= (p.Ser361=) c.*1539C= (n.*1539C=) c.2937C= (p.Ser979=) c.2919C= (p.Ser973=) | |
22 | g.50720773C>G | CA515260250 | SHANK3 | c.2541C>G (p.Ser847Arg) n.3125C>G c.1593C>G (p.Ser531Arg) c.1083C>G (p.Ser361Arg) c.*1539C>G (n.*1539C>G) c.2937C>G (p.Ser979Arg) c.2919C>G (p.Ser973Arg) | gnomAD v4 |
22 | g.50720773C>T | CA515260249 | SHANK3 | c.2541C>T (p.Ser847=) n.3125C>T c.1593C>T (p.Ser531=) c.1083C>T (p.Ser361=) c.*1539C>T (n.*1539C>T) c.2937C>T (p.Ser979=) c.2919C>T (p.Ser973=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720774T>A | CA515260252 | SHANK3 | c.2542T>A (p.Phe848Ile) n.3126T>A c.1594T>A (p.Phe532Ile) c.1084T>A (p.Phe362Ile) c.*1540T>A (n.*1540T>A) c.2938T>A (p.Phe980Ile) c.2920T>A (p.Phe974Ile) | gnomAD v4 |
22 | g.50720774T>C | CA515260253 | SHANK3 | c.2542T>C (p.Phe848Leu) n.3126T>C c.1594T>C (p.Phe532Leu) c.1084T>C (p.Phe362Leu) c.*1540T>C (n.*1540T>C) c.2938T>C (p.Phe980Leu) c.2920T>C (p.Phe974Leu) | gnomAD v4 |
22 | g.50720774T>G | CA515260254 | SHANK3 | c.2542T>G (p.Phe848Val) n.3126T>G c.1594T>G (p.Phe532Val) c.1084T>G (p.Phe362Val) c.*1540T>G (n.*1540T>G) c.2938T>G (p.Phe980Val) c.2920T>G (p.Phe974Val) | |
22 | g.50720775T>A | CA515260255 | SHANK3 | c.2543T>A (p.Phe848Tyr) n.3127T>A c.1595T>A (p.Phe532Tyr) c.1085T>A (p.Phe362Tyr) c.*1541T>A (n.*1541T>A) c.2939T>A (p.Phe980Tyr) c.2921T>A (p.Phe974Tyr) | |
22 | g.50720775T>C | CA515260256 | SHANK3 | c.2543T>C (p.Phe848Ser) n.3127T>C c.1595T>C (p.Phe532Ser) c.1085T>C (p.Phe362Ser) c.*1541T>C (n.*1541T>C) c.2939T>C (p.Phe980Ser) c.2921T>C (p.Phe974Ser) | gnomAD v4 |
22 | g.50720775T>G | CA515260257 | SHANK3 | c.2543T>G (p.Phe848Cys) n.3127T>G c.1595T>G (p.Phe532Cys) c.1085T>G (p.Phe362Cys) c.*1541T>G (n.*1541T>G) c.2939T>G (p.Phe980Cys) c.2921T>G (p.Phe974Cys) | |
22 | g.50720776C>A | CA515260260 | SHANK3 | c.2544C>A (p.Phe848Leu) n.3128C>A c.1596C>A (p.Phe532Leu) c.1086C>A (p.Phe362Leu) c.*1542C>A (n.*1542C>A) c.2940C>A (p.Phe980Leu) c.2922C>A (p.Phe974Leu) | gnomAD v4 |
22 | g.50720776C= | CA2411007818 | SHANK3 | c.2544C= (p.Phe848=) n.3128C= c.1596C= (p.Phe532=) c.1086C= (p.Phe362=) c.*1542C= (n.*1542C=) c.2940C= (p.Phe980=) c.2922C= (p.Phe974=) | |
22 | g.50720776C>G | CA515260259 | SHANK3 | c.2544C>G (p.Phe848Leu) n.3128C>G c.1596C>G (p.Phe532Leu) c.1086C>G (p.Phe362Leu) c.*1542C>G (n.*1542C>G) c.2940C>G (p.Phe980Leu) c.2922C>G (p.Phe974Leu) | gnomAD v4 |
22 | g.50720776C>T | CA515260258 | SHANK3 | c.2544C>T (p.Phe848=) n.3128C>T c.1596C>T (p.Phe532=) c.1086C>T (p.Phe362=) c.*1542C>T (n.*1542C>T) c.2940C>T (p.Phe980=) c.2922C>T (p.Phe974=) | dbSNP gnomAD v4 |
22 | g.50720779_50720782del | CA891842416 | SHANK3 | c.2547_2550del (p.Arg850SerfsTer?) n.3131_3134del c.1599_1602del (p.Arg534SerfsTer?) c.1089_1092del (p.Arg364SerfsTer?) c.*1545_*1548del (n.*1545_*1548del) c.2943_2946del (p.Arg982SerfsTer?) c.2925_2928del (p.Arg976SerfsTer?) | |
22 | g.50720782_50720815del | CA2819316027 | SHANK3 | c.2550_2583del (p.Glu851ValfsTer?) n.3134_3167del c.1602_1635del (p.Glu535ValfsTer?) c.1092_1125del (p.Glu365ValfsTer?) c.*1548_*1581del (n.*1548_*1581del) c.2946_2979del (p.Glu983ValfsTer?) c.2928_2961del (p.Glu977ValfsTer?) | |
22 | g.50720777G>A | CA515260261 | SHANK3 | c.2545G>A (p.Ala849Thr) n.3129G>A c.1597G>A (p.Ala533Thr) c.1087G>A (p.Ala363Thr) c.*1543G>A (n.*1543G>A) c.2941G>A (p.Ala981Thr) c.2923G>A (p.Ala975Thr) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720777G>C | CA515260262 | SHANK3 | c.2545G>C (p.Ala849Pro) n.3129G>C c.1597G>C (p.Ala533Pro) c.1087G>C (p.Ala363Pro) c.*1543G>C (n.*1543G>C) c.2941G>C (p.Ala981Pro) c.2923G>C (p.Ala975Pro) | gnomAD v4 |
22 | g.50720777G= | CA2411007819 | SHANK3 | c.2545G= (p.Ala849=) n.3129G= c.1597G= (p.Ala533=) c.1087G= (p.Ala363=) c.*1543G= (n.*1543G=) c.2941G= (p.Ala981=) c.2923G= (p.Ala975=) | |
22 | g.50720777G>T | CA515260263 | SHANK3 | c.2545G>T (p.Ala849Ser) n.3129G>T c.1597G>T (p.Ala533Ser) c.1087G>T (p.Ala363Ser) c.*1543G>T (n.*1543G>T) c.2941G>T (p.Ala981Ser) c.2923G>T (p.Ala975Ser) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50720778C>A | CA515260264 | SHANK3 | c.2546C>A (p.Ala849Asp) n.3130C>A c.1598C>A (p.Ala533Asp) c.1088C>A (p.Ala363Asp) c.*1544C>A (n.*1544C>A) c.2942C>A (p.Ala981Asp) c.2924C>A (p.Ala975Asp) | gnomAD v3 gnomAD v4 |
22 | g.50720778C= | CA2411007820 | SHANK3 | c.2546C= (p.Ala849=) n.3130C= c.1598C= (p.Ala533=) c.1088C= (p.Ala363=) c.*1544C= (n.*1544C=) c.2942C= (p.Ala981=) c.2924C= (p.Ala975=) | |
22 | g.50720778C>G | CA515260265 | SHANK3 | c.2546C>G (p.Ala849Gly) n.3130C>G c.1598C>G (p.Ala533Gly) c.1088C>G (p.Ala363Gly) c.*1544C>G (n.*1544C>G) c.2942C>G (p.Ala981Gly) c.2924C>G (p.Ala975Gly) | gnomAD v4 |
22 | g.50720778C>T | CA10325941 | SHANK3 | c.2546C>T (p.Ala849Val) n.3130C>T c.1598C>T (p.Ala533Val) c.1088C>T (p.Ala363Val) c.*1544C>T (n.*1544C>T) c.2942C>T (p.Ala981Val) c.2924C>T (p.Ala975Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50720780del | CA2657583404 | SHANK3 | c.2548del (p.Arg850AlafsTer?) n.3132del c.1600del (p.Arg534AlafsTer?) c.1090del (p.Arg364AlafsTer?) c.*1546del (n.*1546del) c.2944del (p.Arg982AlafsTer?) c.2926del (p.Arg976AlafsTer?) | gnomAD v4 |
22 | g.50720779C>A | CA515260266 | SHANK3 | c.2547C>A (p.Ala849=) n.3131C>A c.1599C>A (p.Ala533=) c.1089C>A (p.Ala363=) c.*1545C>A (n.*1545C>A) c.2943C>A (p.Ala981=) c.2925C>A (p.Ala975=) | gnomAD v4 |
22 | g.50720779C= | CA2411007821 | SHANK3 | c.2547C= (p.Ala849=) n.3131C= c.1599C= (p.Ala533=) c.1089C= (p.Ala363=) c.*1545C= (n.*1545C=) c.2943C= (p.Ala981=) c.2925C= (p.Ala975=) | |
22 | g.50720779C>G | CA515260267 | SHANK3 | c.2547C>G (p.Ala849=) n.3131C>G c.1599C>G (p.Ala533=) c.1089C>G (p.Ala363=) c.*1545C>G (n.*1545C>G) c.2943C>G (p.Ala981=) c.2925C>G (p.Ala975=) | gnomAD v4 |
22 | g.50720779C>T | CA10325942 | SHANK3 | c.2547C>T (p.Ala849=) n.3131C>T c.1599C>T (p.Ala533=) c.1089C>T (p.Ala363=) c.*1545C>T (n.*1545C>T) c.2943C>T (p.Ala981=) c.2925C>T (p.Ala975=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50720784_50720804dup | CA2657583405 | SHANK3 | c.2552_2572dup (p.Arg857_Gly858insGluProSerProThrHisArg) n.3136_3156dup c.1604_1624dup (p.Arg541_Gly542insGluProSerProThrHisArg) c.1094_1114dup (p.Arg371_Gly372insGluProSerProThrHisArg) c.*1550_*1570dup (n.*1550_*1570dup) c.2948_2968dup (p.Arg989_Gly990insGluProSerProThrHisArg) c.2930_2950dup (p.Arg983_Gly984insGluProSerProThrHisArg) | gnomAD v4 |
22 | g.50720780C>A | CA515260268 | SHANK3 | c.2548C>A (p.Arg850Ser) n.3132C>A c.1600C>A (p.Arg534Ser) c.1090C>A (p.Arg364Ser) c.*1546C>A (n.*1546C>A) c.2944C>A (p.Arg982Ser) c.2926C>A (p.Arg976Ser) | gnomAD v3 gnomAD v4 |
22 | g.50720780C>G | CA515260269 | SHANK3 | c.2548C>G (p.Arg850Gly) n.3132C>G c.1600C>G (p.Arg534Gly) c.1090C>G (p.Arg364Gly) c.*1546C>G (n.*1546C>G) c.2944C>G (p.Arg982Gly) c.2926C>G (p.Arg976Gly) | gnomAD v4 |
22 | g.50720780C>T | CA515260270 | SHANK3 | c.2548C>T (p.Arg850Cys) n.3132C>T c.1600C>T (p.Arg534Cys) c.1090C>T (p.Arg364Cys) c.*1546C>T (n.*1546C>T) c.2944C>T (p.Arg982Cys) c.2926C>T (p.Arg976Cys) | gnomAD v4 |
22 | g.50720781del | CA2657583406 | SHANK3 | c.2549del (p.Arg850ProfsTer?) n.3133del c.1601del (p.Arg534ProfsTer?) c.1091del (p.Arg364ProfsTer?) c.*1547del (n.*1547del) c.2945del (p.Arg982ProfsTer?) c.2927del (p.Arg976ProfsTer?) | gnomAD v4 |
22 | g.50720781G>A | CA515260271 | SHANK3 | c.2549G>A (p.Arg850His) n.3133G>A c.1601G>A (p.Arg534His) c.1091G>A (p.Arg364His) c.*1547G>A (n.*1547G>A) c.2945G>A (p.Arg982His) c.2927G>A (p.Arg976His) | dbSNP gnomAD v4 |
22 | g.50720781G>C | CA325578280 | SHANK3 | c.2549G>C (p.Arg850Pro) n.3133G>C c.1601G>C (p.Arg534Pro) c.1091G>C (p.Arg364Pro) c.*1547G>C (n.*1547G>C) c.2945G>C (p.Arg982Pro) c.2927G>C (p.Arg976Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720781G= | CA2411007822 | SHANK3 | c.2549G= (p.Arg850=) n.3133G= c.1601G= (p.Arg534=) c.1091G= (p.Arg364=) c.*1547G= (n.*1547G=) c.2945G= (p.Arg982=) c.2927G= (p.Arg976=) | |
22 | g.50720781G>T | CA515260272 | SHANK3 | c.2549G>T (p.Arg850Leu) n.3133G>T c.1601G>T (p.Arg534Leu) c.1091G>T (p.Arg364Leu) c.*1547G>T (n.*1547G>T) c.2945G>T (p.Arg982Leu) c.2927G>T (p.Arg976Leu) | gnomAD v4 |
22 | g.50720782C>A | CA515260273 | SHANK3 | c.2550C>A (p.Arg850=) n.3134C>A c.1602C>A (p.Arg534=) c.1092C>A (p.Arg364=) c.*1548C>A (n.*1548C>A) c.2946C>A (p.Arg982=) c.2928C>A (p.Arg976=) | dbSNP gnomAD v4 |
22 | g.50720782C= | CA2411007823 | SHANK3 | c.2550C= (p.Arg850=) n.3134C= c.1602C= (p.Arg534=) c.1092C= (p.Arg364=) c.*1548C= (n.*1548C=) c.2946C= (p.Arg982=) c.2928C= (p.Arg976=) | |
22 | g.50720782C>G | CA515260274 | SHANK3 | c.2550C>G (p.Arg850=) n.3134C>G c.1602C>G (p.Arg534=) c.1092C>G (p.Arg364=) c.*1548C>G (n.*1548C>G) c.2946C>G (p.Arg982=) c.2928C>G (p.Arg976=) | gnomAD v4 |
22 | g.50720782C>T | CA515260275 | SHANK3 | c.2550C>T (p.Arg850=) n.3134C>T c.1602C>T (p.Arg534=) c.1092C>T (p.Arg364=) c.*1548C>T (n.*1548C>T) c.2946C>T (p.Arg982=) c.2928C>T (p.Arg976=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50720783G>A | CA515260276 | SHANK3 | c.2551G>A (p.Glu851Lys) n.3135G>A c.1603G>A (p.Glu535Lys) c.1093G>A (p.Glu365Lys) c.*1549G>A (n.*1549G>A) c.2947G>A (p.Glu983Lys) c.2929G>A (p.Glu977Lys) | dbSNP gnomAD v4 |
22 | g.50720783G>C | CA515260277 | SHANK3 | c.2551G>C (p.Glu851Gln) n.3135G>C c.1603G>C (p.Glu535Gln) c.1093G>C (p.Glu365Gln) c.*1549G>C (n.*1549G>C) c.2947G>C (p.Glu983Gln) c.2929G>C (p.Glu977Gln) | gnomAD v4 |
22 | g.50720783G= | CA2411007824 | SHANK3 | c.2551G= (p.Glu851=) n.3135G= c.1603G= (p.Glu535=) c.1093G= (p.Glu365=) c.*1549G= (n.*1549G=) c.2947G= (p.Glu983=) c.2929G= (p.Glu977=) | |
22 | g.50720783G>T | CA515260278 | SHANK3 | c.2551G>T (p.Glu851Ter) n.3135G>T c.1603G>T (p.Glu535Ter) c.1093G>T (p.Glu365Ter) c.*1549G>T (n.*1549G>T) c.2947G>T (p.Glu983Ter) c.2929G>T (p.Glu977Ter) | ClinVar dbSNP gnomAD v4 |
22 | g.50720784A>C | CA515260279 | SHANK3 | c.2552A>C (p.Glu851Ala) n.3136A>C c.1604A>C (p.Glu535Ala) c.1094A>C (p.Glu365Ala) c.*1550A>C (n.*1550A>C) c.2948A>C (p.Glu983Ala) c.2930A>C (p.Glu977Ala) | |
22 | g.50720784A>G | CA515260281 | SHANK3 | c.2552A>G (p.Glu851Gly) n.3136A>G c.1604A>G (p.Glu535Gly) c.1094A>G (p.Glu365Gly) c.*1550A>G (n.*1550A>G) c.2948A>G (p.Glu983Gly) c.2930A>G (p.Glu977Gly) | gnomAD v4 |
22 | g.50720784A>T | CA515260280 | SHANK3 | c.2552A>T (p.Glu851Val) n.3136A>T c.1604A>T (p.Glu535Val) c.1094A>T (p.Glu365Val) c.*1550A>T (n.*1550A>T) c.2948A>T (p.Glu983Val) c.2930A>T (p.Glu977Val) | |
22 | g.50720785G>A | CA515260282 | SHANK3 | c.2553G>A (p.Glu851=) n.3137G>A c.1605G>A (p.Glu535=) c.1095G>A (p.Glu365=) c.*1551G>A (n.*1551G>A) c.2949G>A (p.Glu983=) c.2931G>A (p.Glu977=) | gnomAD v4 |
22 | g.50720785G>C | CA515260283 | SHANK3 | c.2553G>C (p.Glu851Asp) n.3137G>C c.1605G>C (p.Glu535Asp) c.1095G>C (p.Glu365Asp) c.*1551G>C (n.*1551G>C) c.2949G>C (p.Glu983Asp) c.2931G>C (p.Glu977Asp) | gnomAD v4 |
22 | g.50720785G>T | CA515260284 | SHANK3 | c.2553G>T (p.Glu851Asp) n.3137G>T c.1605G>T (p.Glu535Asp) c.1095G>T (p.Glu365Asp) c.*1551G>T (n.*1551G>T) c.2949G>T (p.Glu983Asp) c.2931G>T (p.Glu977Asp) | gnomAD v4 |
22 | g.50720786C>A | CA515260285 | SHANK3 | c.2554C>A (p.Pro852Thr) n.3138C>A c.1606C>A (p.Pro536Thr) c.1096C>A (p.Pro366Thr) c.*1552C>A (n.*1552C>A) c.2950C>A (p.Pro984Thr) c.2932C>A (p.Pro978Thr) | dbSNP gnomAD v4 |
22 | g.50720786C= | CA2411007825 | SHANK3 | c.2554C= (p.Pro852=) n.3138C= c.1606C= (p.Pro536=) c.1096C= (p.Pro366=) c.*1552C= (n.*1552C=) c.2950C= (p.Pro984=) c.2932C= (p.Pro978=) | |
22 | g.50720786C>G | CA515260286 | SHANK3 | c.2554C>G (p.Pro852Ala) n.3138C>G c.1606C>G (p.Pro536Ala) c.1096C>G (p.Pro366Ala) c.*1552C>G (n.*1552C>G) c.2950C>G (p.Pro984Ala) c.2932C>G (p.Pro978Ala) | gnomAD v4 |
22 | g.50720786C>T | CA515260287 | SHANK3 | c.2554C>T (p.Pro852Ser) n.3138C>T c.1606C>T (p.Pro536Ser) c.1096C>T (p.Pro366Ser) c.*1552C>T (n.*1552C>T) c.2950C>T (p.Pro984Ser) c.2932C>T (p.Pro978Ser) | gnomAD v4 |
22 | g.50720788dup | CA2657583407 | SHANK3 | c.2556dup (p.Ser853LeufsTer?) n.3140dup c.1608dup (p.Ser537LeufsTer?) c.1098dup (p.Ser367LeufsTer?) c.*1554dup (n.*1554dup) c.2952dup (p.Ser985LeufsTer?) c.2934dup (p.Ser979LeufsTer?) | gnomAD v4 |
22 | g.50720788del | CA2657583408 | SHANK3 | c.2556del (p.Ser853ProfsTer?) n.3140del c.1608del (p.Ser537ProfsTer?) c.1098del (p.Ser367ProfsTer?) c.*1554del (n.*1554del) c.2952del (p.Ser985ProfsTer?) c.2934del (p.Ser979ProfsTer?) | gnomAD v4 |
22 | g.50720787C>A | CA515260288 | SHANK3 | c.2555C>A (p.Pro852His) n.3139C>A c.1607C>A (p.Pro536His) c.1097C>A (p.Pro366His) c.*1553C>A (n.*1553C>A) c.2951C>A (p.Pro984His) c.2933C>A (p.Pro978His) | gnomAD v4 |
22 | g.50720787C>G | CA515260289 | SHANK3 | c.2555C>G (p.Pro852Arg) n.3139C>G c.1607C>G (p.Pro536Arg) c.1097C>G (p.Pro366Arg) c.*1553C>G (n.*1553C>G) c.2951C>G (p.Pro984Arg) c.2933C>G (p.Pro978Arg) | |
22 | g.50720787C>T | CA515260290 | SHANK3 | c.2555C>T (p.Pro852Leu) n.3139C>T c.1607C>T (p.Pro536Leu) c.1097C>T (p.Pro366Leu) c.*1553C>T (n.*1553C>T) c.2951C>T (p.Pro984Leu) c.2933C>T (p.Pro978Leu) | gnomAD v4 |
22 | g.50720788C>A | CA515260291 | SHANK3 | c.2556C>A (p.Pro852=) n.3140C>A c.1608C>A (p.Pro536=) c.1098C>A (p.Pro366=) c.*1554C>A (n.*1554C>A) c.2952C>A (p.Pro984=) c.2934C>A (p.Pro978=) | gnomAD v4 |
22 | g.50720788C= | CA2411007826 | SHANK3 | c.2556C= (p.Pro852=) n.3140C= c.1608C= (p.Pro536=) c.1098C= (p.Pro366=) c.*1554C= (n.*1554C=) c.2952C= (p.Pro984=) c.2934C= (p.Pro978=) | |
22 | g.50720788C>G | CA515260292 | SHANK3 | c.2556C>G (p.Pro852=) n.3140C>G c.1608C>G (p.Pro536=) c.1098C>G (p.Pro366=) c.*1554C>G (n.*1554C>G) c.2952C>G (p.Pro984=) c.2934C>G (p.Pro978=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50720788C>T | CA325578299 | SHANK3 | c.2556C>T (p.Pro852=) n.3140C>T c.1608C>T (p.Pro536=) c.1098C>T (p.Pro366=) c.*1554C>T (n.*1554C>T) c.2952C>T (p.Pro984=) c.2934C>T (p.Pro978=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720795_50720796insGCTCTCCCCGA | CA2580099961 | SHANK3 | c.2563_2564insGCTCTCCCCGA (p.Thr855SerfsTer?) n.3147_3148insGCTCTCCCCGA c.1615_1616insGCTCTCCCCGA (p.Thr539SerfsTer?) c.1105_1106insGCTCTCCCCGA (p.Thr369SerfsTer?) c.*1561_*1562insGCTCTCCCCGA (n.*1561_*1562insGCTCTCCCCGA) c.2959_2960insGCTCTCCCCGA (p.Thr987SerfsTer?) c.2941_2942insGCTCTCCCCGA (p.Thr981SerfsTer?) | ClinVar |