| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50720619G>A | CA515259793 | SHANK3 | c.2387G>A (p.Ser796Asn) n.2971G>A c.1439G>A (p.Ser480Asn) c.929G>A (p.Ser310Asn) c.*1385G>A (n.*1385G>A) c.2783G>A (p.Ser928Asn) c.2765G>A (p.Ser922Asn) | dbSNP gnomAD v4 |
| 22 | g.50720619G>C | CA10325928 | SHANK3 | c.2387G>C (p.Ser796Thr) n.2971G>C c.1439G>C (p.Ser480Thr) c.929G>C (p.Ser310Thr) c.*1385G>C (n.*1385G>C) c.2783G>C (p.Ser928Thr) c.2765G>C (p.Ser922Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50720619G= | CA2411007721 | SHANK3 | c.2387G= (p.Ser796=) n.2971G= c.1439G= (p.Ser480=) c.929G= (p.Ser310=) c.*1385G= (n.*1385G=) c.2783G= (p.Ser928=) c.2765G= (p.Ser922=) | |
| 22 | g.50720619G>T | CA515259794 | SHANK3 | c.2387G>T (p.Ser796Ile) n.2971G>T c.1439G>T (p.Ser480Ile) c.929G>T (p.Ser310Ile) c.*1385G>T (n.*1385G>T) c.2783G>T (p.Ser928Ile) c.2765G>T (p.Ser922Ile) | gnomAD v4 |
| 22 | g.50720619_50720620delinsGC | CA2411007720 | SHANK3 | c.2387_2388delinsGC (p.Ser796=) n.2971_2972delinsGC c.1439_1440delinsGC (p.Ser480=) c.929_930delinsGC (p.Ser310=) c.*1385_*1386delinsGC (n.*1385_*1386delinsGC) c.2783_2784delinsGC (p.Ser928=) c.2765_2766delinsGC (p.Ser922=) | |
| 22 | g.50720620C>A | CA515259796 | SHANK3 | c.2388C>A (p.Ser796Arg) n.2972C>A c.1440C>A (p.Ser480Arg) c.930C>A (p.Ser310Arg) c.*1386C>A (n.*1386C>A) c.2784C>A (p.Ser928Arg) c.2766C>A (p.Ser922Arg) | gnomAD v4 |
| 22 | g.50720620C= | CA2411007722 | SHANK3 | c.2388C= (p.Ser796=) n.2972C= c.1440C= (p.Ser480=) c.930C= (p.Ser310=) c.*1386C= (n.*1386C=) c.2784C= (p.Ser928=) c.2766C= (p.Ser922=) | |
| 22 | g.50720620C>G | CA515259795 | SHANK3 | c.2388C>G (p.Ser796Arg) n.2972C>G c.1440C>G (p.Ser480Arg) c.930C>G (p.Ser310Arg) c.*1386C>G (n.*1386C>G) c.2784C>G (p.Ser928Arg) c.2766C>G (p.Ser922Arg) | gnomAD v4 |
| 22 | g.50720620C>T | CA10325929 | SHANK3 | c.2388C>T (p.Ser796=) n.2972C>T c.1440C>T (p.Ser480=) c.930C>T (p.Ser310=) c.*1386C>T (n.*1386C>T) c.2784C>T (p.Ser928=) c.2766C>T (p.Ser922=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720623del | CA325578189 | SHANK3 | c.2391del (p.Tyr798ThrfsTer25) n.2975del c.1443del (p.Tyr482ThrfsTer25) c.933del (p.Tyr312ThrfsTer25) c.*1389del (n.*1389del) c.2787del (p.Tyr930ThrfsTer25) c.2769del (p.Tyr924ThrfsTer25) | dbSNP gnomAD v4 |
| 22 | g.50720621C>A | CA515259797 | SHANK3 | c.2389C>A (p.Pro797Thr) n.2973C>A c.1441C>A (p.Pro481Thr) c.931C>A (p.Pro311Thr) c.*1387C>A (n.*1387C>A) c.2785C>A (p.Pro929Thr) c.2767C>A (p.Pro923Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50720621C= | CA2411007723 | SHANK3 | c.2389C= (p.Pro797=) n.2973C= c.1441C= (p.Pro481=) c.931C= (p.Pro311=) c.*1387C= (n.*1387C=) c.2785C= (p.Pro929=) c.2767C= (p.Pro923=) | |
| 22 | g.50720621C>G | CA515259798 | SHANK3 | c.2389C>G (p.Pro797Ala) n.2973C>G c.1441C>G (p.Pro481Ala) c.931C>G (p.Pro311Ala) c.*1387C>G (n.*1387C>G) c.2785C>G (p.Pro929Ala) c.2767C>G (p.Pro923Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720621C>T | CA515259799 | SHANK3 | c.2389C>T (p.Pro797Ser) n.2973C>T c.1441C>T (p.Pro481Ser) c.931C>T (p.Pro311Ser) c.*1387C>T (n.*1387C>T) c.2785C>T (p.Pro929Ser) c.2767C>T (p.Pro923Ser) | gnomAD v4 |
| 22 | g.50720622C>A | CA515259800 | SHANK3 | c.2390C>A (p.Pro797His) n.2974C>A c.1442C>A (p.Pro481His) c.932C>A (p.Pro311His) c.*1388C>A (n.*1388C>A) c.2786C>A (p.Pro929His) c.2768C>A (p.Pro923His) | dbSNP gnomAD v4 |
| 22 | g.50720622C= | CA2411007724 | SHANK3 | c.2390C= (p.Pro797=) n.2974C= c.1442C= (p.Pro481=) c.932C= (p.Pro311=) c.*1388C= (n.*1388C=) c.2786C= (p.Pro929=) c.2768C= (p.Pro923=) | |
| 22 | g.50720622C>G | CA515259801 | SHANK3 | c.2390C>G (p.Pro797Arg) n.2974C>G c.1442C>G (p.Pro481Arg) c.932C>G (p.Pro311Arg) c.*1388C>G (n.*1388C>G) c.2786C>G (p.Pro929Arg) c.2768C>G (p.Pro923Arg) | dbSNP |
| 22 | g.50720622C>T | CA515259802 | SHANK3 | c.2390C>T (p.Pro797Leu) n.2974C>T c.1442C>T (p.Pro481Leu) c.932C>T (p.Pro311Leu) c.*1388C>T (n.*1388C>T) c.2786C>T (p.Pro929Leu) c.2768C>T (p.Pro923Leu) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50720623C>A | CA515259803 | SHANK3 | c.2391C>A (p.Pro797=) n.2975C>A c.1443C>A (p.Pro481=) c.933C>A (p.Pro311=) c.*1389C>A (n.*1389C>A) c.2787C>A (p.Pro929=) c.2769C>A (p.Pro923=) | gnomAD v4 |
| 22 | g.50720623C= | CA2411007725 | SHANK3 | c.2391C= (p.Pro797=) n.2975C= c.1443C= (p.Pro481=) c.933C= (p.Pro311=) c.*1389C= (n.*1389C=) c.2787C= (p.Pro929=) c.2769C= (p.Pro923=) | |
| 22 | g.50720623C>G | CA515259804 | SHANK3 | c.2391C>G (p.Pro797=) n.2975C>G c.1443C>G (p.Pro481=) c.933C>G (p.Pro311=) c.*1389C>G (n.*1389C>G) c.2787C>G (p.Pro929=) c.2769C>G (p.Pro923=) | gnomAD v4 |
| 22 | g.50720623C>T | CA325578198 | SHANK3 | c.2391C>T (p.Pro797=) n.2975C>T c.1443C>T (p.Pro481=) c.933C>T (p.Pro311=) c.*1389C>T (n.*1389C>T) c.2787C>T (p.Pro929=) c.2769C>T (p.Pro923=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720624del | CA2657583368 | SHANK3 | c.2392del (p.Tyr798ThrfsTer25) n.2976del c.1444del (p.Tyr482ThrfsTer25) c.934del (p.Tyr312ThrfsTer25) c.*1390del (n.*1390del) c.2788del (p.Tyr930ThrfsTer25) c.2770del (p.Tyr924ThrfsTer25) | gnomAD v4 |
| 22 | g.50720624T>A | CA515259805 | SHANK3 | c.2392T>A (p.Tyr798Asn) n.2976T>A c.1444T>A (p.Tyr482Asn) c.934T>A (p.Tyr312Asn) c.*1390T>A (n.*1390T>A) c.2788T>A (p.Tyr930Asn) c.2770T>A (p.Tyr924Asn) | gnomAD v4 |
| 22 | g.50720624T>C | CA515259806 | SHANK3 | c.2392T>C (p.Tyr798His) n.2976T>C c.1444T>C (p.Tyr482His) c.934T>C (p.Tyr312His) c.*1390T>C (n.*1390T>C) c.2788T>C (p.Tyr930His) c.2770T>C (p.Tyr924His) | gnomAD v4 |
| 22 | g.50720624T>G | CA515259807 | SHANK3 | c.2392T>G (p.Tyr798Asp) n.2976T>G c.1444T>G (p.Tyr482Asp) c.934T>G (p.Tyr312Asp) c.*1390T>G (n.*1390T>G) c.2788T>G (p.Tyr930Asp) c.2770T>G (p.Tyr924Asp) | |
| 22 | g.50720625A= | CA2411007726 | SHANK3 | c.2393A= (p.Tyr798=) n.2977A= c.1445A= (p.Tyr482=) c.935A= (p.Tyr312=) c.*1391A= (n.*1391A=) c.2789A= (p.Tyr930=) c.2771A= (p.Tyr924=) | |
| 22 | g.50720625A>C | CA515259811 | SHANK3 | c.2393A>C (p.Tyr798Ser) n.2977A>C c.1445A>C (p.Tyr482Ser) c.935A>C (p.Tyr312Ser) c.*1391A>C (n.*1391A>C) c.2789A>C (p.Tyr930Ser) c.2771A>C (p.Tyr924Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50720625A>G | CA515259810 | SHANK3 | c.2393A>G (p.Tyr798Cys) n.2977A>G c.1445A>G (p.Tyr482Cys) c.935A>G (p.Tyr312Cys) c.*1391A>G (n.*1391A>G) c.2789A>G (p.Tyr930Cys) c.2771A>G (p.Tyr924Cys) | gnomAD v4 |
| 22 | g.50720625A>T | CA515259809 | SHANK3 | c.2393A>T (p.Tyr798Phe) n.2977A>T c.1445A>T (p.Tyr482Phe) c.935A>T (p.Tyr312Phe) c.*1391A>T (n.*1391A>T) c.2789A>T (p.Tyr930Phe) c.2771A>T (p.Tyr924Phe) | |
| 22 | g.50720626C>A | CA515259812 | SHANK3 | c.2394C>A (p.Tyr798Ter) n.2978C>A c.1446C>A (p.Tyr482Ter) c.936C>A (p.Tyr312Ter) c.*1392C>A (n.*1392C>A) c.2790C>A (p.Tyr930Ter) c.2772C>A (p.Tyr924Ter) | gnomAD v4 |
| 22 | g.50720626C= | CA2411007727 | SHANK3 | c.2394C= (p.Tyr798=) n.2978C= c.1446C= (p.Tyr482=) c.936C= (p.Tyr312=) c.*1392C= (n.*1392C=) c.2790C= (p.Tyr930=) c.2772C= (p.Tyr924=) | |
| 22 | g.50720626C>G | CA515259815 | SHANK3 | c.2394C>G (p.Tyr798Ter) n.2978C>G c.1446C>G (p.Tyr482Ter) c.936C>G (p.Tyr312Ter) c.*1392C>G (n.*1392C>G) c.2790C>G (p.Tyr930Ter) c.2772C>G (p.Tyr924Ter) | gnomAD v4 |
| 22 | g.50720626C>T | CA515259813 | SHANK3 | c.2394C>T (p.Tyr798=) n.2978C>T c.1446C>T (p.Tyr482=) c.936C>T (p.Tyr312=) c.*1392C>T (n.*1392C>T) c.2790C>T (p.Tyr930=) c.2772C>T (p.Tyr924=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720627G>A | CA515259816 | SHANK3 | c.2395G>A (p.Ala799Thr) n.2979G>A c.1447G>A (p.Ala483Thr) c.937G>A (p.Ala313Thr) c.*1393G>A (n.*1393G>A) c.2791G>A (p.Ala931Thr) c.2773G>A (p.Ala925Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720627G>C | CA515259818 | SHANK3 | c.2395G>C (p.Ala799Pro) n.2979G>C c.1447G>C (p.Ala483Pro) c.937G>C (p.Ala313Pro) c.*1393G>C (n.*1393G>C) c.2791G>C (p.Ala931Pro) c.2773G>C (p.Ala925Pro) | gnomAD v4 |
| 22 | g.50720627G= | CA2411007728 | SHANK3 | c.2395G= (p.Ala799=) n.2979G= c.1447G= (p.Ala483=) c.937G= (p.Ala313=) c.*1393G= (n.*1393G=) c.2791G= (p.Ala931=) c.2773G= (p.Ala925=) | |
| 22 | g.50720627G>T | CA515259817 | SHANK3 | c.2395G>T (p.Ala799Ser) n.2979G>T c.1447G>T (p.Ala483Ser) c.937G>T (p.Ala313Ser) c.*1393G>T (n.*1393G>T) c.2791G>T (p.Ala931Ser) c.2773G>T (p.Ala925Ser) | gnomAD v4 |
| 22 | g.50720628C>A | CA515259819 | SHANK3 | c.2396C>A (p.Ala799Asp) n.2980C>A c.1448C>A (p.Ala483Asp) c.938C>A (p.Ala313Asp) c.*1394C>A (n.*1394C>A) c.2792C>A (p.Ala931Asp) c.2774C>A (p.Ala925Asp) | gnomAD v4 |
| 22 | g.50720628C= | CA2411007729 | SHANK3 | c.2396C= (p.Ala799=) n.2980C= c.1448C= (p.Ala483=) c.938C= (p.Ala313=) c.*1394C= (n.*1394C=) c.2792C= (p.Ala931=) c.2774C= (p.Ala925=) | |
| 22 | g.50720628C>G | CA515259820 | SHANK3 | c.2396C>G (p.Ala799Gly) n.2980C>G c.1448C>G (p.Ala483Gly) c.938C>G (p.Ala313Gly) c.*1394C>G (n.*1394C>G) c.2792C>G (p.Ala931Gly) c.2774C>G (p.Ala925Gly) | dbSNP gnomAD v4 |
| 22 | g.50720628C>T | CA515259821 | SHANK3 | c.2396C>T (p.Ala799Val) n.2980C>T c.1448C>T (p.Ala483Val) c.938C>T (p.Ala313Val) c.*1394C>T (n.*1394C>T) c.2792C>T (p.Ala931Val) c.2774C>T (p.Ala925Val) | gnomAD v4 |
| 22 | g.50720629del | CA2657583369 | SHANK3 | c.2397del (p.Asn800ThrfsTer23) n.2981del c.1449del (p.Asn484ThrfsTer23) c.939del (p.Asn314ThrfsTer23) c.*1395del (n.*1395del) c.2793del (p.Asn932ThrfsTer23) c.2775del (p.Asn926ThrfsTer23) | gnomAD v4 |
| 22 | g.50720629C>A | CA515259822 | SHANK3 | c.2397C>A (p.Ala799=) n.2981C>A c.1449C>A (p.Ala483=) c.939C>A (p.Ala313=) c.*1395C>A (n.*1395C>A) c.2793C>A (p.Ala931=) c.2775C>A (p.Ala925=) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50720629C= | CA2411007730 | SHANK3 | c.2397C= (p.Ala799=) n.2981C= c.1449C= (p.Ala483=) c.939C= (p.Ala313=) c.*1395C= (n.*1395C=) c.2793C= (p.Ala931=) c.2775C= (p.Ala925=) | |
| 22 | g.50720629C>G | CA515259823 | SHANK3 | c.2397C>G (p.Ala799=) n.2981C>G c.1449C>G (p.Ala483=) c.939C>G (p.Ala313=) c.*1395C>G (n.*1395C>G) c.2793C>G (p.Ala931=) c.2775C>G (p.Ala925=) | gnomAD v4 |
| 22 | g.50720629C>T | CA515259824 | SHANK3 | c.2397C>T (p.Ala799=) n.2981C>T c.1449C>T (p.Ala483=) c.939C>T (p.Ala313=) c.*1395C>T (n.*1395C>T) c.2793C>T (p.Ala931=) c.2775C>T (p.Ala925=) | dbSNP gnomAD v4 |
| 22 | g.50720630A>C | CA515259827 | SHANK3 | c.2398A>C (p.Asn800His) n.2982A>C c.1450A>C (p.Asn484His) c.940A>C (p.Asn314His) c.*1396A>C (n.*1396A>C) c.2794A>C (p.Asn932His) c.2776A>C (p.Asn926His) | |
| 22 | g.50720630A>G | CA515259826 | SHANK3 | c.2398A>G (p.Asn800Asp) n.2982A>G c.1450A>G (p.Asn484Asp) c.940A>G (p.Asn314Asp) c.*1396A>G (n.*1396A>G) c.2794A>G (p.Asn932Asp) c.2776A>G (p.Asn926Asp) | gnomAD v4 |
| 22 | g.50720630A>T | CA515259825 | SHANK3 | c.2398A>T (p.Asn800Tyr) n.2982A>T c.1450A>T (p.Asn484Tyr) c.940A>T (p.Asn314Tyr) c.*1396A>T (n.*1396A>T) c.2794A>T (p.Asn932Tyr) c.2776A>T (p.Asn926Tyr) | gnomAD v4 |
| 22 | g.50720631A>C | CA515259828 | SHANK3 | c.2399A>C (p.Asn800Thr) n.2983A>C c.1451A>C (p.Asn484Thr) c.941A>C (p.Asn314Thr) c.*1397A>C (n.*1397A>C) c.2795A>C (p.Asn932Thr) c.2777A>C (p.Asn926Thr) | |
| 22 | g.50720631A>G | CA515259829 | SHANK3 | c.2399A>G (p.Asn800Ser) n.2983A>G c.1451A>G (p.Asn484Ser) c.941A>G (p.Asn314Ser) c.*1397A>G (n.*1397A>G) c.2795A>G (p.Asn932Ser) c.2777A>G (p.Asn926Ser) | gnomAD v4 |
| 22 | g.50720631A>T | CA515259830 | SHANK3 | c.2399A>T (p.Asn800Ile) n.2983A>T c.1451A>T (p.Asn484Ile) c.941A>T (p.Asn314Ile) c.*1397A>T (n.*1397A>T) c.2795A>T (p.Asn932Ile) c.2777A>T (p.Asn926Ile) | |
| 22 | g.50720632C>A | CA515259831 | SHANK3 | c.2400C>A (p.Asn800Lys) n.2984C>A c.1452C>A (p.Asn484Lys) c.942C>A (p.Asn314Lys) c.*1398C>A (n.*1398C>A) c.2796C>A (p.Asn932Lys) c.2778C>A (p.Asn926Lys) | gnomAD v4 |
| 22 | g.50720632C= | CA2411007731 | SHANK3 | c.2400C= (p.Asn800=) n.2984C= c.1452C= (p.Asn484=) c.942C= (p.Asn314=) c.*1398C= (n.*1398C=) c.2796C= (p.Asn932=) c.2778C= (p.Asn926=) | |
| 22 | g.50720632C>G | CA515259832 | SHANK3 | c.2400C>G (p.Asn800Lys) n.2984C>G c.1452C>G (p.Asn484Lys) c.942C>G (p.Asn314Lys) c.*1398C>G (n.*1398C>G) c.2796C>G (p.Asn932Lys) c.2778C>G (p.Asn926Lys) | gnomAD v4 |
| 22 | g.50720632C>T | CA325578199 | SHANK3 | c.2400C>T (p.Asn800=) n.2984C>T c.1452C>T (p.Asn484=) c.942C>T (p.Asn314=) c.*1398C>T (n.*1398C>T) c.2796C>T (p.Asn932=) c.2778C>T (p.Asn926=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720633C>A | CA515259834 | SHANK3 | c.2401C>A (p.Leu801Met) n.2985C>A c.1453C>A (p.Leu485Met) c.943C>A (p.Leu315Met) c.*1399C>A (n.*1399C>A) c.2797C>A (p.Leu933Met) c.2779C>A (p.Leu927Met) | gnomAD v4 |
| 22 | g.50720633C>G | CA515259836 | SHANK3 | c.2401C>G (p.Leu801Val) n.2985C>G c.1453C>G (p.Leu485Val) c.943C>G (p.Leu315Val) c.*1399C>G (n.*1399C>G) c.2797C>G (p.Leu933Val) c.2779C>G (p.Leu927Val) | |
| 22 | g.50720633C>T | CA515259835 | SHANK3 | c.2401C>T (p.Leu801=) n.2985C>T c.1453C>T (p.Leu485=) c.943C>T (p.Leu315=) c.*1399C>T (n.*1399C>T) c.2797C>T (p.Leu933=) c.2779C>T (p.Leu927=) | gnomAD v4 |
| 22 | g.50720634del | CA2657583370 | SHANK3 | c.2402del (p.Leu801ArgfsTer22) n.2986del c.1454del (p.Leu485ArgfsTer22) c.944del (p.Leu315ArgfsTer22) c.*1400del (n.*1400del) c.2798del (p.Leu933ArgfsTer22) c.2780del (p.Leu927ArgfsTer22) | gnomAD v4 |
| 22 | g.50720634T>A | CA515259837 | SHANK3 | c.2402T>A (p.Leu801Gln) n.2986T>A c.1454T>A (p.Leu485Gln) c.944T>A (p.Leu315Gln) c.*1400T>A (n.*1400T>A) c.2798T>A (p.Leu933Gln) c.2780T>A (p.Leu927Gln) | gnomAD v4 |
| 22 | g.50720634T>C | CA515259838 | SHANK3 | c.2402T>C (p.Leu801Pro) n.2986T>C c.1454T>C (p.Leu485Pro) c.944T>C (p.Leu315Pro) c.*1400T>C (n.*1400T>C) c.2798T>C (p.Leu933Pro) c.2780T>C (p.Leu927Pro) | gnomAD v4 |
| 22 | g.50720634T>G | CA515259839 | SHANK3 | c.2402T>G (p.Leu801Arg) n.2986T>G c.1454T>G (p.Leu485Arg) c.944T>G (p.Leu315Arg) c.*1400T>G (n.*1400T>G) c.2798T>G (p.Leu933Arg) c.2780T>G (p.Leu927Arg) | gnomAD v4 |
| 22 | g.50720635G>A | CA515259840 | SHANK3 | c.2403G>A (p.Leu801=) n.2987G>A c.1455G>A (p.Leu485=) c.945G>A (p.Leu315=) c.*1401G>A (n.*1401G>A) c.2799G>A (p.Leu933=) c.2781G>A (p.Leu927=) | dbSNP gnomAD v4 |
| 22 | g.50720635G>C | CA515259841 | SHANK3 | c.2403G>C (p.Leu801=) n.2987G>C c.1455G>C (p.Leu485=) c.945G>C (p.Leu315=) c.*1401G>C (n.*1401G>C) c.2799G>C (p.Leu933=) c.2781G>C (p.Leu927=) | gnomAD v3 gnomAD v4 |
| 22 | g.50720635G= | CA2411007732 | SHANK3 | c.2403G= (p.Leu801=) n.2987G= c.1455G= (p.Leu485=) c.945G= (p.Leu315=) c.*1401G= (n.*1401G=) c.2799G= (p.Leu933=) c.2781G= (p.Leu927=) | |
| 22 | g.50720635G>T | CA515259842 | SHANK3 | c.2403G>T (p.Leu801=) n.2987G>T c.1455G>T (p.Leu485=) c.945G>T (p.Leu315=) c.*1401G>T (n.*1401G>T) c.2799G>T (p.Leu933=) c.2781G>T (p.Leu927=) | gnomAD v4 |
| 22 | g.50720637del | CA2657583371 | SHANK3 | c.2405del (p.Gly802AlafsTer21) n.2989del c.1457del (p.Gly486AlafsTer21) c.947del (p.Gly316AlafsTer21) c.*1403del (n.*1403del) c.2801del (p.Gly934AlafsTer21) c.2783del (p.Gly928AlafsTer21) | gnomAD v4 |
| 22 | g.50720636G>A | CA515259843 | SHANK3 | c.2404G>A (p.Gly802Ser) n.2988G>A c.1456G>A (p.Gly486Ser) c.946G>A (p.Gly316Ser) c.*1402G>A (n.*1402G>A) c.2800G>A (p.Gly934Ser) c.2782G>A (p.Gly928Ser) | gnomAD v4 |
| 22 | g.50720636G>C | CA515259844 | SHANK3 | c.2404G>C (p.Gly802Arg) n.2988G>C c.1456G>C (p.Gly486Arg) c.946G>C (p.Gly316Arg) c.*1402G>C (n.*1402G>C) c.2800G>C (p.Gly934Arg) c.2782G>C (p.Gly928Arg) | gnomAD v4 |
| 22 | g.50720636G>T | CA515259845 | SHANK3 | c.2404G>T (p.Gly802Cys) n.2988G>T c.1456G>T (p.Gly486Cys) c.946G>T (p.Gly316Cys) c.*1402G>T (n.*1402G>T) c.2800G>T (p.Gly934Cys) c.2782G>T (p.Gly928Cys) | gnomAD v4 |
| 22 | g.50720637G>A | CA515259846 | SHANK3 | c.2405G>A (p.Gly802Asp) n.2989G>A c.1457G>A (p.Gly486Asp) c.947G>A (p.Gly316Asp) c.*1403G>A (n.*1403G>A) c.2801G>A (p.Gly934Asp) c.2783G>A (p.Gly928Asp) | gnomAD v4 |
| 22 | g.50720637G>C | CA515259847 | SHANK3 | c.2405G>C (p.Gly802Ala) n.2989G>C c.1457G>C (p.Gly486Ala) c.947G>C (p.Gly316Ala) c.*1403G>C (n.*1403G>C) c.2801G>C (p.Gly934Ala) c.2783G>C (p.Gly928Ala) | |
| 22 | g.50720637G>T | CA515259849 | SHANK3 | c.2405G>T (p.Gly802Val) n.2989G>T c.1457G>T (p.Gly486Val) c.947G>T (p.Gly316Val) c.*1403G>T (n.*1403G>T) c.2801G>T (p.Gly934Val) c.2783G>T (p.Gly928Val) | gnomAD v4 |
| 22 | g.50720638del | CA2657583372 | SHANK3 | c.2406del (p.Ala803ProfsTer20) n.2990del c.1458del (p.Ala487ProfsTer20) c.948del (p.Ala317ProfsTer20) c.*1404del (n.*1404del) c.2802del (p.Ala935ProfsTer20) c.2784del (p.Ala929ProfsTer20) | gnomAD v4 |
| 22 | g.50720638C>A | CA515259850 | SHANK3 | c.2406C>A (p.Gly802=) n.2990C>A c.1458C>A (p.Gly486=) c.948C>A (p.Gly316=) c.*1404C>A (n.*1404C>A) c.2802C>A (p.Gly934=) c.2784C>A (p.Gly928=) | gnomAD v4 |
| 22 | g.50720638C= | CA2411007733 | SHANK3 | c.2406C= (p.Gly802=) n.2990C= c.1458C= (p.Gly486=) c.948C= (p.Gly316=) c.*1404C= (n.*1404C=) c.2802C= (p.Gly934=) c.2784C= (p.Gly928=) | |
| 22 | g.50720638C>G | CA515259852 | SHANK3 | c.2406C>G (p.Gly802=) n.2990C>G c.1458C>G (p.Gly486=) c.948C>G (p.Gly316=) c.*1404C>G (n.*1404C>G) c.2802C>G (p.Gly934=) c.2784C>G (p.Gly928=) | gnomAD v4 |
| 22 | g.50720638C>T | CA515259851 | SHANK3 | c.2406C>T (p.Gly802=) n.2990C>T c.1458C>T (p.Gly486=) c.948C>T (p.Gly316=) c.*1404C>T (n.*1404C>T) c.2802C>T (p.Gly934=) c.2784C>T (p.Gly928=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720639G>A | CA515259853 | SHANK3 | c.2407G>A (p.Ala803Thr) n.2991G>A c.1459G>A (p.Ala487Thr) c.949G>A (p.Ala317Thr) c.*1405G>A (n.*1405G>A) c.2803G>A (p.Ala935Thr) c.2785G>A (p.Ala929Thr) | dbSNP gnomAD v4 |
| 22 | g.50720639G>C | CA515259854 | SHANK3 | c.2407G>C (p.Ala803Pro) n.2991G>C c.1459G>C (p.Ala487Pro) c.949G>C (p.Ala317Pro) c.*1405G>C (n.*1405G>C) c.2803G>C (p.Ala935Pro) c.2785G>C (p.Ala929Pro) | gnomAD v4 |
| 22 | g.50720639G= | CA2411007734 | SHANK3 | c.2407G= (p.Ala803=) n.2991G= c.1459G= (p.Ala487=) c.949G= (p.Ala317=) c.*1405G= (n.*1405G=) c.2803G= (p.Ala935=) c.2785G= (p.Ala929=) | |
| 22 | g.50720639G>T | CA515259855 | SHANK3 | c.2407G>T (p.Ala803Ser) n.2991G>T c.1459G>T (p.Ala487Ser) c.949G>T (p.Ala317Ser) c.*1405G>T (n.*1405G>T) c.2803G>T (p.Ala935Ser) c.2785G>T (p.Ala929Ser) | gnomAD v4 |
| 22 | g.50720640C>A | CA515259856 | SHANK3 | c.2408C>A (p.Ala803Asp) n.2992C>A c.1460C>A (p.Ala487Asp) c.950C>A (p.Ala317Asp) c.*1406C>A (n.*1406C>A) c.2804C>A (p.Ala935Asp) c.2786C>A (p.Ala929Asp) | gnomAD v4 |
| 22 | g.50720640C= | CA2411007735 | SHANK3 | c.2408C= (p.Ala803=) n.2992C= c.1460C= (p.Ala487=) c.950C= (p.Ala317=) c.*1406C= (n.*1406C=) c.2804C= (p.Ala935=) c.2786C= (p.Ala929=) | |
| 22 | g.50720640C>G | CA515259857 | SHANK3 | c.2408C>G (p.Ala803Gly) n.2992C>G c.1460C>G (p.Ala487Gly) c.950C>G (p.Ala317Gly) c.*1406C>G (n.*1406C>G) c.2804C>G (p.Ala935Gly) c.2786C>G (p.Ala929Gly) | |
| 22 | g.50720640C>T | CA515259858 | SHANK3 | c.2408C>T (p.Ala803Val) n.2992C>T c.1460C>T (p.Ala487Val) c.950C>T (p.Ala317Val) c.*1406C>T (n.*1406C>T) c.2804C>T (p.Ala935Val) c.2786C>T (p.Ala929Val) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50720641C>A | CA515259859 | SHANK3 | c.2409C>A (p.Ala803=) n.2993C>A c.1461C>A (p.Ala487=) c.951C>A (p.Ala317=) c.*1407C>A (n.*1407C>A) c.2805C>A (p.Ala935=) c.2787C>A (p.Ala929=) | gnomAD v4 |
| 22 | g.50720641C>G | CA515259860 | SHANK3 | c.2409C>G (p.Ala803=) n.2993C>G c.1461C>G (p.Ala487=) c.951C>G (p.Ala317=) c.*1407C>G (n.*1407C>G) c.2805C>G (p.Ala935=) c.2787C>G (p.Ala929=) | ClinVar |
| 22 | g.50720641C>T | CA515259861 | SHANK3 | c.2409C>T (p.Ala803=) n.2993C>T c.1461C>T (p.Ala487=) c.951C>T (p.Ala317=) c.*1407C>T (n.*1407C>T) c.2805C>T (p.Ala935=) c.2787C>T (p.Ala929=) | gnomAD v4 |
| 22 | g.50720642T>A | CA515259862 | SHANK3 | c.2410T>A (p.Phe804Ile) n.2994T>A c.1462T>A (p.Phe488Ile) c.952T>A (p.Phe318Ile) c.*1408T>A (n.*1408T>A) c.2806T>A (p.Phe936Ile) c.2788T>A (p.Phe930Ile) | gnomAD v4 |
| 22 | g.50720642T>C | CA515259863 | SHANK3 | c.2410T>C (p.Phe804Leu) n.2994T>C c.1462T>C (p.Phe488Leu) c.952T>C (p.Phe318Leu) c.*1408T>C (n.*1408T>C) c.2806T>C (p.Phe936Leu) c.2788T>C (p.Phe930Leu) | gnomAD v4 |
| 22 | g.50720642T>G | CA515259864 | SHANK3 | c.2410T>G (p.Phe804Val) n.2994T>G c.1462T>G (p.Phe488Val) c.952T>G (p.Phe318Val) c.*1408T>G (n.*1408T>G) c.2806T>G (p.Phe936Val) c.2788T>G (p.Phe930Val) | gnomAD v4 |
| 22 | g.50720643del | CA2657583373 | SHANK3 | c.2411del (p.Phe804SerfsTer19) n.2995del c.1463del (p.Phe488SerfsTer19) c.953del (p.Phe318SerfsTer19) c.*1409del (n.*1409del) c.2807del (p.Phe936SerfsTer19) c.2789del (p.Phe930SerfsTer19) | gnomAD v4 |
| 22 | g.50720643T>A | CA515259868 | SHANK3 | c.2411T>A (p.Phe804Tyr) n.2995T>A c.1463T>A (p.Phe488Tyr) c.953T>A (p.Phe318Tyr) c.*1409T>A (n.*1409T>A) c.2807T>A (p.Phe936Tyr) c.2789T>A (p.Phe930Tyr) | gnomAD v4 |
| 22 | g.50720643T>C | CA515259867 | SHANK3 | c.2411T>C (p.Phe804Ser) n.2995T>C c.1463T>C (p.Phe488Ser) c.953T>C (p.Phe318Ser) c.*1409T>C (n.*1409T>C) c.2807T>C (p.Phe936Ser) c.2789T>C (p.Phe930Ser) | gnomAD v4 |
| 22 | g.50720643T>G | CA515259865 | SHANK3 | c.2411T>G (p.Phe804Cys) n.2995T>G c.1463T>G (p.Phe488Cys) c.953T>G (p.Phe318Cys) c.*1409T>G (n.*1409T>G) c.2807T>G (p.Phe936Cys) c.2789T>G (p.Phe930Cys) | |
| 22 | g.50720644C>A | CA515259869 | SHANK3 | c.2412C>A (p.Phe804Leu) n.2996C>A c.1464C>A (p.Phe488Leu) c.954C>A (p.Phe318Leu) c.*1410C>A (n.*1410C>A) c.2808C>A (p.Phe936Leu) c.2790C>A (p.Phe930Leu) | gnomAD v4 |
| 22 | g.50720644C= | CA2411007736 | SHANK3 | c.2412C= (p.Phe804=) n.2996C= c.1464C= (p.Phe488=) c.954C= (p.Phe318=) c.*1410C= (n.*1410C=) c.2808C= (p.Phe936=) c.2790C= (p.Phe930=) | |
| 22 | g.50720644C>G | CA515259870 | SHANK3 | c.2412C>G (p.Phe804Leu) n.2996C>G c.1464C>G (p.Phe488Leu) c.954C>G (p.Phe318Leu) c.*1410C>G (n.*1410C>G) c.2808C>G (p.Phe936Leu) c.2790C>G (p.Phe930Leu) | gnomAD v4 |
| 22 | g.50720644C>T | CA515259871 | SHANK3 | c.2412C>T (p.Phe804=) n.2996C>T c.1464C>T (p.Phe488=) c.954C>T (p.Phe318=) c.*1410C>T (n.*1410C>T) c.2808C>T (p.Phe936=) c.2790C>T (p.Phe930=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50720645A>C | CA515259872 | SHANK3 | c.2413A>C (p.Ser805Arg) n.2997A>C c.1465A>C (p.Ser489Arg) c.955A>C (p.Ser319Arg) c.*1411A>C (n.*1411A>C) c.2809A>C (p.Ser937Arg) c.2791A>C (p.Ser931Arg) | gnomAD v4 |
| 22 | g.50720645A>G | CA515259873 | SHANK3 | c.2413A>G (p.Ser805Gly) n.2997A>G c.1465A>G (p.Ser489Gly) c.955A>G (p.Ser319Gly) c.*1411A>G (n.*1411A>G) c.2809A>G (p.Ser937Gly) c.2791A>G (p.Ser931Gly) | gnomAD v4 |
| 22 | g.50720645A>T | CA515259874 | SHANK3 | c.2413A>T (p.Ser805Cys) n.2997A>T c.1465A>T (p.Ser489Cys) c.955A>T (p.Ser319Cys) c.*1411A>T (n.*1411A>T) c.2809A>T (p.Ser937Cys) c.2791A>T (p.Ser931Cys) | |
| 22 | g.50720646G>A | CA515259875 | SHANK3 | c.2414G>A (p.Ser805Asn) n.2998G>A c.1466G>A (p.Ser489Asn) c.956G>A (p.Ser319Asn) c.*1412G>A (n.*1412G>A) c.2810G>A (p.Ser937Asn) c.2792G>A (p.Ser931Asn) | gnomAD v4 |
| 22 | g.50720646G>C | CA515259876 | SHANK3 | c.2414G>C (p.Ser805Thr) n.2998G>C c.1466G>C (p.Ser489Thr) c.956G>C (p.Ser319Thr) c.*1412G>C (n.*1412G>C) c.2810G>C (p.Ser937Thr) c.2792G>C (p.Ser931Thr) | |
| 22 | g.50720646G>T | CA515259877 | SHANK3 | c.2414G>T (p.Ser805Ile) n.2998G>T c.1466G>T (p.Ser489Ile) c.956G>T (p.Ser319Ile) c.*1412G>T (n.*1412G>T) c.2810G>T (p.Ser937Ile) c.2792G>T (p.Ser931Ile) | gnomAD v4 |
| 22 | g.50720647C>A | CA515259878 | SHANK3 | c.2415C>A (p.Ser805Arg) n.2999C>A c.1467C>A (p.Ser489Arg) c.957C>A (p.Ser319Arg) c.*1413C>A (n.*1413C>A) c.2811C>A (p.Ser937Arg) c.2793C>A (p.Ser931Arg) | gnomAD v4 |
| 22 | g.50720647C= | CA2411007737 | SHANK3 | c.2415C= (p.Ser805=) n.2999C= c.1467C= (p.Ser489=) c.957C= (p.Ser319=) c.*1413C= (n.*1413C=) c.2811C= (p.Ser937=) c.2793C= (p.Ser931=) | |
| 22 | g.50720647C>G | CA515259880 | SHANK3 | c.2415C>G (p.Ser805Arg) n.2999C>G c.1467C>G (p.Ser489Arg) c.957C>G (p.Ser319Arg) c.*1413C>G (n.*1413C>G) c.2811C>G (p.Ser937Arg) c.2793C>G (p.Ser931Arg) | gnomAD v4 |
| 22 | g.50720647C>T | CA10325930 | SHANK3 | c.2415C>T (p.Ser805=) n.2999C>T c.1467C>T (p.Ser489=) c.957C>T (p.Ser319=) c.*1413C>T (n.*1413C>T) c.2811C>T (p.Ser937=) c.2793C>T (p.Ser931=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720648G>A | CA515259883 | SHANK3 | c.2416G>A (p.Ala806Thr) n.3000G>A c.1468G>A (p.Ala490Thr) c.958G>A (p.Ala320Thr) c.*1414G>A (n.*1414G>A) c.2812G>A (p.Ala938Thr) c.2794G>A (p.Ala932Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720648G>C | CA515259885 | SHANK3 | c.2416G>C (p.Ala806Pro) n.3000G>C c.1468G>C (p.Ala490Pro) c.958G>C (p.Ala320Pro) c.*1414G>C (n.*1414G>C) c.2812G>C (p.Ala938Pro) c.2794G>C (p.Ala932Pro) | gnomAD v4 |
| 22 | g.50720648G= | CA2411007738 | SHANK3 | c.2416G= (p.Ala806=) n.3000G= c.1468G= (p.Ala490=) c.958G= (p.Ala320=) c.*1414G= (n.*1414G=) c.2812G= (p.Ala938=) c.2794G= (p.Ala932=) | |
| 22 | g.50720648G>T | CA515259884 | SHANK3 | c.2416G>T (p.Ala806Ser) n.3000G>T c.1468G>T (p.Ala490Ser) c.958G>T (p.Ala320Ser) c.*1414G>T (n.*1414G>T) c.2812G>T (p.Ala938Ser) c.2794G>T (p.Ala932Ser) | gnomAD v4 |
| 22 | g.50720649C>A | CA515259886 | SHANK3 | c.2417C>A (p.Ala806Asp) n.3001C>A c.1469C>A (p.Ala490Asp) c.959C>A (p.Ala320Asp) c.*1415C>A (n.*1415C>A) c.2813C>A (p.Ala938Asp) c.2795C>A (p.Ala932Asp) | gnomAD v4 |
| 22 | g.50720649C>G | CA515259888 | SHANK3 | c.2417C>G (p.Ala806Gly) n.3001C>G c.1469C>G (p.Ala490Gly) c.959C>G (p.Ala320Gly) c.*1415C>G (n.*1415C>G) c.2813C>G (p.Ala938Gly) c.2795C>G (p.Ala932Gly) | |
| 22 | g.50720649C>T | CA515259887 | SHANK3 | c.2417C>T (p.Ala806Val) n.3001C>T c.1469C>T (p.Ala490Val) c.959C>T (p.Ala320Val) c.*1415C>T (n.*1415C>T) c.2813C>T (p.Ala938Val) c.2795C>T (p.Ala932Val) | gnomAD v4 |
| 22 | g.50720650del | CA2657583374 | SHANK3 | c.2418del (p.Ser807AlafsTer16) n.3002del c.1470del (p.Ser491AlafsTer16) c.960del (p.Ser321AlafsTer16) c.*1416del (n.*1416del) c.2814del (p.Ser939AlafsTer16) c.2796del (p.Ser933AlafsTer16) | gnomAD v4 |
| 22 | g.50720650C>A | CA515259889 | SHANK3 | c.2418C>A (p.Ala806=) n.3002C>A c.1470C>A (p.Ala490=) c.960C>A (p.Ala320=) c.*1416C>A (n.*1416C>A) c.2814C>A (p.Ala938=) c.2796C>A (p.Ala932=) | gnomAD v4 |
| 22 | g.50720650C>G | CA515259890 | SHANK3 | c.2418C>G (p.Ala806=) n.3002C>G c.1470C>G (p.Ala490=) c.960C>G (p.Ala320=) c.*1416C>G (n.*1416C>G) c.2814C>G (p.Ala938=) c.2796C>G (p.Ala932=) | gnomAD v4 |
| 22 | g.50720650C>T | CA515259891 | SHANK3 | c.2418C>T (p.Ala806=) n.3002C>T c.1470C>T (p.Ala490=) c.960C>T (p.Ala320=) c.*1416C>T (n.*1416C>T) c.2814C>T (p.Ala938=) c.2796C>T (p.Ala932=) | gnomAD v4 |
| 22 | g.50720651A>C | CA515259892 | SHANK3 | c.2419A>C (p.Ser807Arg) n.3003A>C c.1471A>C (p.Ser491Arg) c.961A>C (p.Ser321Arg) c.*1417A>C (n.*1417A>C) c.2815A>C (p.Ser939Arg) c.2797A>C (p.Ser933Arg) | gnomAD v4 |
| 22 | g.50720651A>G | CA515259893 | SHANK3 | c.2419A>G (p.Ser807Gly) n.3003A>G c.1471A>G (p.Ser491Gly) c.961A>G (p.Ser321Gly) c.*1417A>G (n.*1417A>G) c.2815A>G (p.Ser939Gly) c.2797A>G (p.Ser933Gly) | gnomAD v4 |
| 22 | g.50720651A>T | CA515259894 | SHANK3 | c.2419A>T (p.Ser807Cys) n.3003A>T c.1471A>T (p.Ser491Cys) c.961A>T (p.Ser321Cys) c.*1417A>T (n.*1417A>T) c.2815A>T (p.Ser939Cys) c.2797A>T (p.Ser933Cys) | |
| 22 | g.50720652G>A | CA515259895 | SHANK3 | c.2420G>A (p.Ser807Asn) n.3004G>A c.1472G>A (p.Ser491Asn) c.962G>A (p.Ser321Asn) c.*1418G>A (n.*1418G>A) c.2816G>A (p.Ser939Asn) c.2798G>A (p.Ser933Asn) | gnomAD v4 |
| 22 | g.50720652G>C | CA515259897 | SHANK3 | c.2420G>C (p.Ser807Thr) n.3004G>C c.1472G>C (p.Ser491Thr) c.962G>C (p.Ser321Thr) c.*1418G>C (n.*1418G>C) c.2816G>C (p.Ser939Thr) c.2798G>C (p.Ser933Thr) | gnomAD v4 |
| 22 | g.50720652G>T | CA515259899 | SHANK3 | c.2420G>T (p.Ser807Ile) n.3004G>T c.1472G>T (p.Ser491Ile) c.962G>T (p.Ser321Ile) c.*1418G>T (n.*1418G>T) c.2816G>T (p.Ser939Ile) c.2798G>T (p.Ser933Ile) | gnomAD v4 |
| 22 | g.50720653C>A | CA515259900 | SHANK3 | c.2421C>A (p.Ser807Arg) n.3005C>A c.1473C>A (p.Ser491Arg) c.963C>A (p.Ser321Arg) c.*1419C>A (n.*1419C>A) c.2817C>A (p.Ser939Arg) c.2799C>A (p.Ser933Arg) | gnomAD v4 |
| 22 | g.50720653C= | CA2411007739 | SHANK3 | c.2421C= (p.Ser807=) n.3005C= c.1473C= (p.Ser491=) c.963C= (p.Ser321=) c.*1419C= (n.*1419C=) c.2817C= (p.Ser939=) c.2799C= (p.Ser933=) | |
| 22 | g.50720653C>G | CA515259902 | SHANK3 | c.2421C>G (p.Ser807Arg) n.3005C>G c.1473C>G (p.Ser491Arg) c.963C>G (p.Ser321Arg) c.*1419C>G (n.*1419C>G) c.2817C>G (p.Ser939Arg) c.2799C>G (p.Ser933Arg) | gnomAD v4 |
| 22 | g.50720653C>T | CA515259903 | SHANK3 | c.2421C>T (p.Ser807=) n.3005C>T c.1473C>T (p.Ser491=) c.963C>T (p.Ser321=) c.*1419C>T (n.*1419C>T) c.2817C>T (p.Ser939=) c.2799C>T (p.Ser933=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50720654C>A | CA515259904 | SHANK3 | c.2422C>A (p.Leu808Ile) n.3006C>A c.1474C>A (p.Leu492Ile) c.964C>A (p.Leu322Ile) c.*1420C>A (n.*1420C>A) c.2818C>A (p.Leu940Ile) c.2800C>A (p.Leu934Ile) | gnomAD v4 |
| 22 | g.50720654C= | CA2411007740 | SHANK3 | c.2422C= (p.Leu808=) n.3006C= c.1474C= (p.Leu492=) c.964C= (p.Leu322=) c.*1420C= (n.*1420C=) c.2818C= (p.Leu940=) c.2800C= (p.Leu934=) | |
| 22 | g.50720654C>G | CA515259906 | SHANK3 | c.2422C>G (p.Leu808Val) n.3006C>G c.1474C>G (p.Leu492Val) c.964C>G (p.Leu322Val) c.*1420C>G (n.*1420C>G) c.2818C>G (p.Leu940Val) c.2800C>G (p.Leu934Val) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50720654C>T | CA515259905 | SHANK3 | c.2422C>T (p.Leu808Phe) n.3006C>T c.1474C>T (p.Leu492Phe) c.964C>T (p.Leu322Phe) c.*1420C>T (n.*1420C>T) c.2818C>T (p.Leu940Phe) c.2800C>T (p.Leu934Phe) | dbSNP gnomAD v4 |
| 22 | g.50720655del | CA2657583375 | SHANK3 | c.2423del (p.Leu808ProfsTer15) n.3007del c.1475del (p.Leu492ProfsTer15) c.965del (p.Leu322ProfsTer15) c.*1421del (n.*1421del) c.2819del (p.Leu940ProfsTer15) c.2801del (p.Leu934ProfsTer15) | gnomAD v4 |
| 22 | g.50720655T>A | CA515259907 | SHANK3 | c.2423T>A (p.Leu808His) n.3007T>A c.1475T>A (p.Leu492His) c.965T>A (p.Leu322His) c.*1421T>A (n.*1421T>A) c.2819T>A (p.Leu940His) c.2801T>A (p.Leu934His) | gnomAD v4 |
| 22 | g.50720655T>C | CA515259908 | SHANK3 | c.2423T>C (p.Leu808Pro) n.3007T>C c.1475T>C (p.Leu492Pro) c.965T>C (p.Leu322Pro) c.*1421T>C (n.*1421T>C) c.2819T>C (p.Leu940Pro) c.2801T>C (p.Leu934Pro) | gnomAD v4 |
| 22 | g.50720655T>G | CA515259909 | SHANK3 | c.2423T>G (p.Leu808Arg) n.3007T>G c.1475T>G (p.Leu492Arg) c.965T>G (p.Leu322Arg) c.*1421T>G (n.*1421T>G) c.2819T>G (p.Leu940Arg) c.2801T>G (p.Leu934Arg) | gnomAD v4 |
| 22 | g.50720656C>A | CA515259910 | SHANK3 | c.2424C>A (p.Leu808=) n.3008C>A c.1476C>A (p.Leu492=) c.966C>A (p.Leu322=) c.*1422C>A (n.*1422C>A) c.2820C>A (p.Leu940=) c.2802C>A (p.Leu934=) | gnomAD v4 |
| 22 | g.50720656C= | CA2411007741 | SHANK3 | c.2424C= (p.Leu808=) n.3008C= c.1476C= (p.Leu492=) c.966C= (p.Leu322=) c.*1422C= (n.*1422C=) c.2820C= (p.Leu940=) c.2802C= (p.Leu934=) | |
| 22 | g.50720656C>G | CA515259911 | SHANK3 | c.2424C>G (p.Leu808=) n.3008C>G c.1476C>G (p.Leu492=) c.966C>G (p.Leu322=) c.*1422C>G (n.*1422C>G) c.2820C>G (p.Leu940=) c.2802C>G (p.Leu934=) | dbSNP |
| 22 | g.50720656C>T | CA515259912 | SHANK3 | c.2424C>T (p.Leu808=) n.3008C>T c.1476C>T (p.Leu492=) c.966C>T (p.Leu322=) c.*1422C>T (n.*1422C>T) c.2820C>T (p.Leu940=) c.2802C>T (p.Leu934=) | dbSNP gnomAD v4 |
| 22 | g.50720657T>A | CA515259913 | SHANK3 | c.2425T>A (p.Phe809Ile) n.3009T>A c.1477T>A (p.Phe493Ile) c.967T>A (p.Phe323Ile) c.*1423T>A (n.*1423T>A) c.2821T>A (p.Phe941Ile) c.2803T>A (p.Phe935Ile) | |
| 22 | g.50720657T>C | CA515259914 | SHANK3 | c.2425T>C (p.Phe809Leu) n.3009T>C c.1477T>C (p.Phe493Leu) c.967T>C (p.Phe323Leu) c.*1423T>C (n.*1423T>C) c.2821T>C (p.Phe941Leu) c.2803T>C (p.Phe935Leu) | gnomAD v4 |
| 22 | g.50720657T>G | CA515259915 | SHANK3 | c.2425T>G (p.Phe809Val) n.3009T>G c.1477T>G (p.Phe493Val) c.967T>G (p.Phe323Val) c.*1423T>G (n.*1423T>G) c.2821T>G (p.Phe941Val) c.2803T>G (p.Phe935Val) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50720657T= | CA2411007742 | SHANK3 | c.2425T= (p.Phe809=) n.3009T= c.1477T= (p.Phe493=) c.967T= (p.Phe323=) c.*1423T= (n.*1423T=) c.2821T= (p.Phe941=) c.2803T= (p.Phe935=) | |
| 22 | g.50720658del | CA2657583376 | SHANK3 | c.2426del (p.Phe809SerfsTer14) n.3010del c.1478del (p.Phe493SerfsTer14) c.968del (p.Phe323SerfsTer14) c.*1424del (n.*1424del) c.2822del (p.Phe941SerfsTer14) c.2804del (p.Phe935SerfsTer14) | gnomAD v4 |
| 22 | g.50720658T>A | CA515259919 | SHANK3 | c.2426T>A (p.Phe809Tyr) n.3010T>A c.1478T>A (p.Phe493Tyr) c.968T>A (p.Phe323Tyr) c.*1424T>A (n.*1424T>A) c.2822T>A (p.Phe941Tyr) c.2804T>A (p.Phe935Tyr) | |
| 22 | g.50720658T>C | CA515259917 | SHANK3 | c.2426T>C (p.Phe809Ser) n.3010T>C c.1478T>C (p.Phe493Ser) c.968T>C (p.Phe323Ser) c.*1424T>C (n.*1424T>C) c.2822T>C (p.Phe941Ser) c.2804T>C (p.Phe935Ser) | gnomAD v4 |
| 22 | g.50720658T>G | CA515259916 | SHANK3 | c.2426T>G (p.Phe809Cys) n.3010T>G c.1478T>G (p.Phe493Cys) c.968T>G (p.Phe323Cys) c.*1424T>G (n.*1424T>G) c.2822T>G (p.Phe941Cys) c.2804T>G (p.Phe935Cys) | gnomAD v4 |
| 22 | g.50720659C>A | CA515259920 | SHANK3 | c.2427C>A (p.Phe809Leu) n.3011C>A c.1479C>A (p.Phe493Leu) c.969C>A (p.Phe323Leu) c.*1425C>A (n.*1425C>A) c.2823C>A (p.Phe941Leu) c.2805C>A (p.Phe935Leu) | gnomAD v4 |
| 22 | g.50720659C= | CA2411007743 | SHANK3 | c.2427C= (p.Phe809=) n.3011C= c.1479C= (p.Phe493=) c.969C= (p.Phe323=) c.*1425C= (n.*1425C=) c.2823C= (p.Phe941=) c.2805C= (p.Phe935=) | |
| 22 | g.50720659C>G | CA515259921 | SHANK3 | c.2427C>G (p.Phe809Leu) n.3011C>G c.1479C>G (p.Phe493Leu) c.969C>G (p.Phe323Leu) c.*1425C>G (n.*1425C>G) c.2823C>G (p.Phe941Leu) c.2805C>G (p.Phe935Leu) | dbSNP gnomAD v4 |
| 22 | g.50720659C>T | CA515259922 | SHANK3 | c.2427C>T (p.Phe809=) n.3011C>T c.1479C>T (p.Phe493=) c.969C>T (p.Phe323=) c.*1425C>T (n.*1425C>T) c.2823C>T (p.Phe941=) c.2805C>T (p.Phe935=) | gnomAD v4 |
| 22 | g.50720660G>A | CA515259923 | SHANK3 | c.2428G>A (p.Ala810Thr) n.3012G>A c.1480G>A (p.Ala494Thr) c.970G>A (p.Ala324Thr) c.*1426G>A (n.*1426G>A) c.2824G>A (p.Ala942Thr) c.2806G>A (p.Ala936Thr) | dbSNP gnomAD v4 |
| 22 | g.50720660G>C | CA515259924 | SHANK3 | c.2428G>C (p.Ala810Pro) n.3012G>C c.1480G>C (p.Ala494Pro) c.970G>C (p.Ala324Pro) c.*1426G>C (n.*1426G>C) c.2824G>C (p.Ala942Pro) c.2806G>C (p.Ala936Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50720660G= | CA2411007744 | SHANK3 | c.2428G= (p.Ala810=) n.3012G= c.1480G= (p.Ala494=) c.970G= (p.Ala324=) c.*1426G= (n.*1426G=) c.2824G= (p.Ala942=) c.2806G= (p.Ala936=) | |
| 22 | g.50720660G>T | CA515259925 | SHANK3 | c.2428G>T (p.Ala810Ser) n.3012G>T c.1480G>T (p.Ala494Ser) c.970G>T (p.Ala324Ser) c.*1426G>T (n.*1426G>T) c.2824G>T (p.Ala942Ser) c.2806G>T (p.Ala936Ser) | gnomAD v4 |
| 22 | g.50720661C>A | CA515259926 | SHANK3 | c.2429C>A (p.Ala810Asp) n.3013C>A c.1481C>A (p.Ala494Asp) c.971C>A (p.Ala324Asp) c.*1427C>A (n.*1427C>A) c.2825C>A (p.Ala942Asp) c.2807C>A (p.Ala936Asp) | gnomAD v4 |
| 22 | g.50720661C= | CA2411007745 | SHANK3 | c.2429C= (p.Ala810=) n.3013C= c.1481C= (p.Ala494=) c.971C= (p.Ala324=) c.*1427C= (n.*1427C=) c.2825C= (p.Ala942=) c.2807C= (p.Ala936=) | |
| 22 | g.50720661C>G | CA515259927 | SHANK3 | c.2429C>G (p.Ala810Gly) n.3013C>G c.1481C>G (p.Ala494Gly) c.971C>G (p.Ala324Gly) c.*1427C>G (n.*1427C>G) c.2825C>G (p.Ala942Gly) c.2807C>G (p.Ala936Gly) | |
| 22 | g.50720661C>T | CA515259928 | SHANK3 | c.2429C>T (p.Ala810Val) n.3013C>T c.1481C>T (p.Ala494Val) c.971C>T (p.Ala324Val) c.*1427C>T (n.*1427C>T) c.2825C>T (p.Ala942Val) c.2807C>T (p.Ala936Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720662T>A | CA515259929 | SHANK3 | c.2430T>A (p.Ala810=) n.3014T>A c.1482T>A (p.Ala494=) c.972T>A (p.Ala324=) c.*1428T>A (n.*1428T>A) c.2826T>A (p.Ala942=) c.2808T>A (p.Ala936=) | gnomAD v4 |
| 22 | g.50720662T>C | CA515259930 | SHANK3 | c.2430T>C (p.Ala810=) n.3014T>C c.1482T>C (p.Ala494=) c.972T>C (p.Ala324=) c.*1428T>C (n.*1428T>C) c.2826T>C (p.Ala942=) c.2808T>C (p.Ala936=) | gnomAD v4 |
| 22 | g.50720662T>G | CA515259931 | SHANK3 | c.2430T>G (p.Ala810=) n.3014T>G c.1482T>G (p.Ala494=) c.972T>G (p.Ala324=) c.*1428T>G (n.*1428T>G) c.2826T>G (p.Ala942=) c.2808T>G (p.Ala936=) | gnomAD v4 |
| 22 | g.50720663C>A | CA515259934 | SHANK3 | c.2431C>A (p.Pro811Thr) n.3015C>A c.1483C>A (p.Pro495Thr) c.973C>A (p.Pro325Thr) c.*1429C>A (n.*1429C>A) c.2827C>A (p.Pro943Thr) c.2809C>A (p.Pro937Thr) | gnomAD v4 |
| 22 | g.50720663C= | CA2411007746 | SHANK3 | c.2431C= (p.Pro811=) n.3015C= c.1483C= (p.Pro495=) c.973C= (p.Pro325=) c.*1429C= (n.*1429C=) c.2827C= (p.Pro943=) c.2809C= (p.Pro937=) | |
| 22 | g.50720663C>G | CA515259932 | SHANK3 | c.2431C>G (p.Pro811Ala) n.3015C>G c.1483C>G (p.Pro495Ala) c.973C>G (p.Pro325Ala) c.*1429C>G (n.*1429C>G) c.2827C>G (p.Pro943Ala) c.2809C>G (p.Pro937Ala) | gnomAD v4 |
| 22 | g.50720663C>T | CA515259933 | SHANK3 | c.2431C>T (p.Pro811Ser) n.3015C>T c.1483C>T (p.Pro495Ser) c.973C>T (p.Pro325Ser) c.*1429C>T (n.*1429C>T) c.2827C>T (p.Pro943Ser) c.2809C>T (p.Pro937Ser) | dbSNP gnomAD v4 |
| 22 | g.50720664C>A | CA515259935 | SHANK3 | c.2432C>A (p.Pro811Gln) n.3016C>A c.1484C>A (p.Pro495Gln) c.974C>A (p.Pro325Gln) c.*1430C>A (n.*1430C>A) c.2828C>A (p.Pro943Gln) c.2810C>A (p.Pro937Gln) | gnomAD v4 |
| 22 | g.50720664C= | CA2411007747 | SHANK3 | c.2432C= (p.Pro811=) n.3016C= c.1484C= (p.Pro495=) c.974C= (p.Pro325=) c.*1430C= (n.*1430C=) c.2828C= (p.Pro943=) c.2810C= (p.Pro937=) | |
| 22 | g.50720664C>G | CA10325931 | SHANK3 | c.2432C>G (p.Pro811Arg) n.3016C>G c.1484C>G (p.Pro495Arg) c.974C>G (p.Pro325Arg) c.*1430C>G (n.*1430C>G) c.2828C>G (p.Pro943Arg) c.2810C>G (p.Pro937Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720664C>T | CA515259936 | SHANK3 | c.2432C>T (p.Pro811Leu) n.3016C>T c.1484C>T (p.Pro495Leu) c.974C>T (p.Pro325Leu) c.*1430C>T (n.*1430C>T) c.2828C>T (p.Pro943Leu) c.2810C>T (p.Pro937Leu) | dbSNP gnomAD v4 |
| 22 | g.50720665del | CA2657583377 | SHANK3 | c.2433del (p.Ser812ProfsTer11) n.3017del c.1485del (p.Ser496ProfsTer11) c.975del (p.Ser326ProfsTer11) c.*1431del (n.*1431del) c.2829del (p.Ser944ProfsTer11) c.2811del (p.Ser938ProfsTer11) | gnomAD v4 |
| 22 | g.50720665G>A | CA515259937 | SHANK3 | c.2433G>A (p.Pro811=) n.3017G>A c.1485G>A (p.Pro495=) c.975G>A (p.Pro325=) c.*1431G>A (n.*1431G>A) c.2829G>A (p.Pro943=) c.2811G>A (p.Pro937=) | gnomAD v4 |
| 22 | g.50720665G>C | CA515259938 | SHANK3 | c.2433G>C (p.Pro811=) n.3017G>C c.1485G>C (p.Pro495=) c.975G>C (p.Pro325=) c.*1431G>C (n.*1431G>C) c.2829G>C (p.Pro943=) c.2811G>C (p.Pro937=) | |
| 22 | g.50720665G>T | CA515259939 | SHANK3 | c.2433G>T (p.Pro811=) n.3017G>T c.1485G>T (p.Pro495=) c.975G>T (p.Pro325=) c.*1431G>T (n.*1431G>T) c.2829G>T (p.Pro943=) c.2811G>T (p.Pro937=) | gnomAD v4 |
| 22 | g.50720666T>A | CA515259940 | SHANK3 | c.2434T>A (p.Ser812Thr) n.3018T>A c.1486T>A (p.Ser496Thr) c.976T>A (p.Ser326Thr) c.*1432T>A (n.*1432T>A) c.2830T>A (p.Ser944Thr) c.2812T>A (p.Ser938Thr) | gnomAD v4 |
| 22 | g.50720666T>C | CA515259941 | SHANK3 | c.2434T>C (p.Ser812Pro) n.3018T>C c.1486T>C (p.Ser496Pro) c.976T>C (p.Ser326Pro) c.*1432T>C (n.*1432T>C) c.2830T>C (p.Ser944Pro) c.2812T>C (p.Ser938Pro) | gnomAD v4 |
| 22 | g.50720666T>G | CA515259942 | SHANK3 | c.2434T>G (p.Ser812Ala) n.3018T>G c.1486T>G (p.Ser496Ala) c.976T>G (p.Ser326Ala) c.*1432T>G (n.*1432T>G) c.2830T>G (p.Ser944Ala) c.2812T>G (p.Ser938Ala) | |
| 22 | g.50720667C>A | CA515259943 | SHANK3 | c.2435C>A (p.Ser812Tyr) n.3019C>A c.1487C>A (p.Ser496Tyr) c.977C>A (p.Ser326Tyr) c.*1433C>A (n.*1433C>A) c.2831C>A (p.Ser944Tyr) c.2813C>A (p.Ser938Tyr) | gnomAD v4 |
| 22 | g.50720667C>G | CA515259944 | SHANK3 | c.2435C>G (p.Ser812Cys) n.3019C>G c.1487C>G (p.Ser496Cys) c.977C>G (p.Ser326Cys) c.*1433C>G (n.*1433C>G) c.2831C>G (p.Ser944Cys) c.2813C>G (p.Ser938Cys) | |
| 22 | g.50720667C>T | CA515259945 | SHANK3 | c.2435C>T (p.Ser812Phe) n.3019C>T c.1487C>T (p.Ser496Phe) c.977C>T (p.Ser326Phe) c.*1433C>T (n.*1433C>T) c.2831C>T (p.Ser944Phe) c.2813C>T (p.Ser938Phe) | gnomAD v4 |
| 22 | g.50720668del | CA2657583378 | SHANK3 | c.2436del (p.Lys813SerfsTer10) n.3020del c.1488del (p.Lys497SerfsTer10) c.978del (p.Lys327SerfsTer10) c.*1434del (n.*1434del) c.2832del (p.Lys945SerfsTer10) c.2814del (p.Lys939SerfsTer10) | gnomAD v4 |
| 22 | g.50720668C>A | CA515259947 | SHANK3 | c.2436C>A (p.Ser812=) n.3020C>A c.1488C>A (p.Ser496=) c.978C>A (p.Ser326=) c.*1434C>A (n.*1434C>A) c.2832C>A (p.Ser944=) c.2814C>A (p.Ser938=) | gnomAD v4 |
| 22 | g.50720668C= | CA2411007748 | SHANK3 | c.2436C= (p.Ser812=) n.3020C= c.1488C= (p.Ser496=) c.978C= (p.Ser326=) c.*1434C= (n.*1434C=) c.2832C= (p.Ser944=) c.2814C= (p.Ser938=) | |
| 22 | g.50720668C>G | CA515259948 | SHANK3 | c.2436C>G (p.Ser812=) n.3020C>G c.1488C>G (p.Ser496=) c.978C>G (p.Ser326=) c.*1434C>G (n.*1434C>G) c.2832C>G (p.Ser944=) c.2814C>G (p.Ser938=) | gnomAD v4 |
| 22 | g.50720668C>T | CA515259946 | SHANK3 | c.2436C>T (p.Ser812=) n.3020C>T c.1488C>T (p.Ser496=) c.978C>T (p.Ser326=) c.*1434C>T (n.*1434C>T) c.2832C>T (p.Ser944=) c.2814C>T (p.Ser938=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50720669A>C | CA515259951 | SHANK3 | c.2437A>C (p.Lys813Gln) n.3021A>C c.1489A>C (p.Lys497Gln) c.979A>C (p.Lys327Gln) c.*1435A>C (n.*1435A>C) c.2833A>C (p.Lys945Gln) c.2815A>C (p.Lys939Gln) | |
| 22 | g.50720669A>G | CA515259950 | SHANK3 | c.2437A>G (p.Lys813Glu) n.3021A>G c.1489A>G (p.Lys497Glu) c.979A>G (p.Lys327Glu) c.*1435A>G (n.*1435A>G) c.2833A>G (p.Lys945Glu) c.2815A>G (p.Lys939Glu) | gnomAD v4 |
| 22 | g.50720669A>T | CA515259952 | SHANK3 | c.2437A>T (p.Lys813Ter) n.3021A>T c.1489A>T (p.Lys497Ter) c.979A>T (p.Lys327Ter) c.*1435A>T (n.*1435A>T) c.2833A>T (p.Lys945Ter) c.2815A>T (p.Lys939Ter) | |
| 22 | g.50720670A= | CA2411007749 | SHANK3 | c.2438A= (p.Lys813=) n.3022A= c.1490A= (p.Lys497=) c.980A= (p.Lys327=) c.*1436A= (n.*1436A=) c.2834A= (p.Lys945=) c.2816A= (p.Lys939=) | |
| 22 | g.50720670A>C | CA515259953 | SHANK3 | c.2438A>C (p.Lys813Thr) n.3022A>C c.1490A>C (p.Lys497Thr) c.980A>C (p.Lys327Thr) c.*1436A>C (n.*1436A>C) c.2834A>C (p.Lys945Thr) c.2816A>C (p.Lys939Thr) | |
| 22 | g.50720670A>G | CA10325932 | SHANK3 | c.2438A>G (p.Lys813Arg) n.3022A>G c.1490A>G (p.Lys497Arg) c.980A>G (p.Lys327Arg) c.*1436A>G (n.*1436A>G) c.2834A>G (p.Lys945Arg) c.2816A>G (p.Lys939Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50720670A>T | CA515259954 | SHANK3 | c.2438A>T (p.Lys813Met) n.3022A>T c.1490A>T (p.Lys497Met) c.980A>T (p.Lys327Met) c.*1436A>T (n.*1436A>T) c.2834A>T (p.Lys945Met) c.2816A>T (p.Lys939Met) | gnomAD v4 |
| 22 | g.50720671G>A | CA515259955 | SHANK3 | c.2439G>A (p.Lys813=) n.3023G>A c.1491G>A (p.Lys497=) c.981G>A (p.Lys327=) c.*1437G>A (n.*1437G>A) c.2835G>A (p.Lys945=) c.2817G>A (p.Lys939=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50720671G>C | CA515259956 | SHANK3 | c.2439G>C (p.Lys813Asn) n.3023G>C c.1491G>C (p.Lys497Asn) c.981G>C (p.Lys327Asn) c.*1437G>C (n.*1437G>C) c.2835G>C (p.Lys945Asn) c.2817G>C (p.Lys939Asn) | |
| 22 | g.50720671G= | CA2411007750 | SHANK3 | c.2439G= (p.Lys813=) n.3023G= c.1491G= (p.Lys497=) c.981G= (p.Lys327=) c.*1437G= (n.*1437G=) c.2835G= (p.Lys945=) c.2817G= (p.Lys939=) | |
| 22 | g.50720671G>T | CA515259957 | SHANK3 | c.2439G>T (p.Lys813Asn) n.3023G>T c.1491G>T (p.Lys497Asn) c.981G>T (p.Lys327Asn) c.*1437G>T (n.*1437G>T) c.2835G>T (p.Lys945Asn) c.2817G>T (p.Lys939Asn) | gnomAD v4 |
| 22 | g.50720677_50720684dup | CA658799569 | SHANK3 | c.2445_2452dup (p.Lys818SerfsTer8) n.3029_3036dup c.1497_1504dup (p.Lys502SerfsTer8) c.987_994dup (p.Lys332SerfsTer8) c.*1443_*1450dup (n.*1443_*1450dup) c.2841_2848dup (p.Lys950SerfsTer8) c.2823_2830dup (p.Lys944SerfsTer8) | ClinVar dbSNP |
| 22 | g.50720672C>A | CA515259958 | SHANK3 | c.2440C>A (p.Pro814Thr) n.3024C>A c.1492C>A (p.Pro498Thr) c.982C>A (p.Pro328Thr) c.*1438C>A (n.*1438C>A) c.2836C>A (p.Pro946Thr) c.2818C>A (p.Pro940Thr) | gnomAD v4 |
| 22 | g.50720672C= | CA2411007751 | SHANK3 | c.2440C= (p.Pro814=) n.3024C= c.1492C= (p.Pro498=) c.982C= (p.Pro328=) c.*1438C= (n.*1438C=) c.2836C= (p.Pro946=) c.2818C= (p.Pro940=) | |
| 22 | g.50720672C>G | CA515259959 | SHANK3 | c.2440C>G (p.Pro814Ala) n.3024C>G c.1492C>G (p.Pro498Ala) c.982C>G (p.Pro328Ala) c.*1438C>G (n.*1438C>G) c.2836C>G (p.Pro946Ala) c.2818C>G (p.Pro940Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50720672C>T | CA515259960 | SHANK3 | c.2440C>T (p.Pro814Ser) n.3024C>T c.1492C>T (p.Pro498Ser) c.982C>T (p.Pro328Ser) c.*1438C>T (n.*1438C>T) c.2836C>T (p.Pro946Ser) c.2818C>T (p.Pro940Ser) | gnomAD v4 |
| 22 | g.50720673C>A | CA515259962 | SHANK3 | c.2441C>A (p.Pro814Gln) n.3025C>A c.1493C>A (p.Pro498Gln) c.983C>A (p.Pro328Gln) c.*1439C>A (n.*1439C>A) c.2837C>A (p.Pro946Gln) c.2819C>A (p.Pro940Gln) | gnomAD v4 |
| 22 | g.50720673C>G | CA515259963 | SHANK3 | c.2441C>G (p.Pro814Arg) n.3025C>G c.1493C>G (p.Pro498Arg) c.983C>G (p.Pro328Arg) c.*1439C>G (n.*1439C>G) c.2837C>G (p.Pro946Arg) c.2819C>G (p.Pro940Arg) | gnomAD v4 |
| 22 | g.50720673C>T | CA515259964 | SHANK3 | c.2441C>T (p.Pro814Leu) n.3025C>T c.1493C>T (p.Pro498Leu) c.983C>T (p.Pro328Leu) c.*1439C>T (n.*1439C>T) c.2837C>T (p.Pro946Leu) c.2819C>T (p.Pro940Leu) | gnomAD v4 |
| 22 | g.50720674G>A | CA515259966 | SHANK3 | c.2442G>A (p.Pro814=) n.3026G>A c.1494G>A (p.Pro498=) c.984G>A (p.Pro328=) c.*1440G>A (n.*1440G>A) c.2838G>A (p.Pro946=) c.2820G>A (p.Pro940=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50720674G>C | CA515259965 | SHANK3 | c.2442G>C (p.Pro814=) n.3026G>C c.1494G>C (p.Pro498=) c.984G>C (p.Pro328=) c.*1440G>C (n.*1440G>C) c.2838G>C (p.Pro946=) c.2820G>C (p.Pro940=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50720674G= | CA2411007752 | SHANK3 | c.2442G= (p.Pro814=) n.3026G= c.1494G= (p.Pro498=) c.984G= (p.Pro328=) c.*1440G= (n.*1440G=) c.2838G= (p.Pro946=) c.2820G= (p.Pro940=) | |
| 22 | g.50720674G>T | CA10325933 | SHANK3 | c.2442G>T (p.Pro814=) n.3026G>T c.1494G>T (p.Pro498=) c.984G>T (p.Pro328=) c.*1440G>T (n.*1440G>T) c.2838G>T (p.Pro946=) c.2820G>T (p.Pro940=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 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.50720675C>A | CA325578237 | SHANK3 | c.2443C>A (p.Gln815Lys) n.3027C>A c.1495C>A (p.Gln499Lys) c.985C>A (p.Gln329Lys) c.*1441C>A (n.*1441C>A) c.2839C>A (p.Gln947Lys) c.2821C>A (p.Gln941Lys) | dbSNP gnomAD v4 |
| 22 | g.50720675C= | CA2411007753 | SHANK3 | c.2443C= (p.Gln815=) n.3027C= c.1495C= (p.Gln499=) c.985C= (p.Gln329=) c.*1441C= (n.*1441C=) c.2839C= (p.Gln947=) c.2821C= (p.Gln941=) | |
| 22 | g.50720675C>G | CA515259967 | SHANK3 | c.2443C>G (p.Gln815Glu) n.3027C>G c.1495C>G (p.Gln499Glu) c.985C>G (p.Gln329Glu) c.*1441C>G (n.*1441C>G) c.2839C>G (p.Gln947Glu) c.2821C>G (p.Gln941Glu) | gnomAD v4 |
| 22 | g.50720675C>T | CA515259968 | SHANK3 | c.2443C>T (p.Gln815Ter) n.3027C>T c.1495C>T (p.Gln499Ter) c.985C>T (p.Gln329Ter) c.*1441C>T (n.*1441C>T) c.2839C>T (p.Gln947Ter) c.2821C>T (p.Gln941Ter) | gnomAD v4 |
| 22 | g.50720676A>C | CA515259969 | SHANK3 | c.2444A>C (p.Gln815Pro) n.3028A>C c.1496A>C (p.Gln499Pro) c.986A>C (p.Gln329Pro) c.*1442A>C (n.*1442A>C) c.2840A>C (p.Gln947Pro) c.2822A>C (p.Gln941Pro) | gnomAD v4 |
| 22 | g.50720676A>G | CA515259970 | SHANK3 | c.2444A>G (p.Gln815Arg) n.3028A>G c.1496A>G (p.Gln499Arg) c.986A>G (p.Gln329Arg) c.*1442A>G (n.*1442A>G) c.2840A>G (p.Gln947Arg) c.2822A>G (p.Gln941Arg) | gnomAD v4 |
| 22 | g.50720676A>T | CA515259971 | SHANK3 | c.2444A>T (p.Gln815Leu) n.3028A>T c.1496A>T (p.Gln499Leu) c.986A>T (p.Gln329Leu) c.*1442A>T (n.*1442A>T) c.2840A>T (p.Gln947Leu) c.2822A>T (p.Gln941Leu) | gnomAD v4 |
| 22 | g.50720677G>A | CA515259972 | SHANK3 | c.2445G>A (p.Gln815=) n.3029G>A c.1497G>A (p.Gln499=) c.987G>A (p.Gln329=) c.*1443G>A (n.*1443G>A) c.2841G>A (p.Gln947=) c.2823G>A (p.Gln941=) | gnomAD v4 |
| 22 | g.50720677G>C | CA515259973 | SHANK3 | c.2445G>C (p.Gln815His) n.3029G>C c.1497G>C (p.Gln499His) c.987G>C (p.Gln329His) c.*1443G>C (n.*1443G>C) c.2841G>C (p.Gln947His) c.2823G>C (p.Gln941His) | gnomAD v4 |
| 22 | g.50720677G>T | CA515259974 | SHANK3 | c.2445G>T (p.Gln815His) n.3029G>T c.1497G>T (p.Gln499His) c.987G>T (p.Gln329His) c.*1443G>T (n.*1443G>T) c.2841G>T (p.Gln947His) c.2823G>T (p.Gln941His) | gnomAD v4 |
| 22 | g.50720678C>A | CA515259975 | SHANK3 | c.2446C>A (p.Arg816Ser) n.3030C>A c.1498C>A (p.Arg500Ser) c.988C>A (p.Arg330Ser) c.*1444C>A (n.*1444C>A) c.2842C>A (p.Arg948Ser) c.2824C>A (p.Arg942Ser) | gnomAD v4 |
| 22 | g.50720678C>G | CA515259976 | SHANK3 | c.2446C>G (p.Arg816Gly) n.3030C>G c.1498C>G (p.Arg500Gly) c.988C>G (p.Arg330Gly) c.*1444C>G (n.*1444C>G) c.2842C>G (p.Arg948Gly) c.2824C>G (p.Arg942Gly) | gnomAD v4 |
| 22 | g.50720678C>T | CA515259977 | SHANK3 | c.2446C>T (p.Arg816Cys) n.3030C>T c.1498C>T (p.Arg500Cys) c.988C>T (p.Arg330Cys) c.*1444C>T (n.*1444C>T) c.2842C>T (p.Arg948Cys) c.2824C>T (p.Arg942Cys) | gnomAD v4 |
| 22 | g.50720679G>A | CA515259980 | SHANK3 | c.2447G>A (p.Arg816His) n.3031G>A c.1499G>A (p.Arg500His) c.989G>A (p.Arg330His) c.*1445G>A (n.*1445G>A) c.2843G>A (p.Arg948His) c.2825G>A (p.Arg942His) | gnomAD v4 |
| 22 | g.50720679G>C | CA515259979 | SHANK3 | c.2447G>C (p.Arg816Pro) n.3031G>C c.1499G>C (p.Arg500Pro) c.989G>C (p.Arg330Pro) c.*1445G>C (n.*1445G>C) c.2843G>C (p.Arg948Pro) c.2825G>C (p.Arg942Pro) | gnomAD v4 |
| 22 | g.50720679G>T | CA515259978 | SHANK3 | c.2447G>T (p.Arg816Leu) n.3031G>T c.1499G>T (p.Arg500Leu) c.989G>T (p.Arg330Leu) c.*1445G>T (n.*1445G>T) c.2843G>T (p.Arg948Leu) c.2825G>T (p.Arg942Leu) | gnomAD v3 gnomAD v4 |
| 22 | g.50720680C>A | CA515259981 | SHANK3 | c.2448C>A (p.Arg816=) n.3032C>A c.1500C>A (p.Arg500=) c.990C>A (p.Arg330=) c.*1446C>A (n.*1446C>A) c.2844C>A (p.Arg948=) c.2826C>A (p.Arg942=) | gnomAD v4 |
| 22 | g.50720680C= | CA2411007754 | SHANK3 | c.2448C= (p.Arg816=) n.3032C= c.1500C= (p.Arg500=) c.990C= (p.Arg330=) c.*1446C= (n.*1446C=) c.2844C= (p.Arg948=) c.2826C= (p.Arg942=) | |
| 22 | g.50720680C>G | CA515259982 | SHANK3 | c.2448C>G (p.Arg816=) n.3032C>G c.1500C>G (p.Arg500=) c.990C>G (p.Arg330=) c.*1446C>G (n.*1446C>G) c.2844C>G (p.Arg948=) c.2826C>G (p.Arg942=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50720680C>T | CA515259983 | SHANK3 | c.2448C>T (p.Arg816=) n.3032C>T c.1500C>T (p.Arg500=) c.990C>T (p.Arg330=) c.*1446C>T (n.*1446C>T) c.2844C>T (p.Arg948=) c.2826C>T (p.Arg942=) | gnomAD v4 |
| 22 | g.50720681C>A | CA515259984 | SHANK3 | c.2449C>A (p.Arg817Ser) n.3033C>A c.1501C>A (p.Arg501Ser) c.991C>A (p.Arg331Ser) c.*1447C>A (n.*1447C>A) c.2845C>A (p.Arg949Ser) c.2827C>A (p.Arg943Ser) | gnomAD v4 |
| 22 | g.50720681C>G | CA515259985 | SHANK3 | c.2449C>G (p.Arg817Gly) n.3033C>G c.1501C>G (p.Arg501Gly) c.991C>G (p.Arg331Gly) c.*1447C>G (n.*1447C>G) c.2845C>G (p.Arg949Gly) c.2827C>G (p.Arg943Gly) | |
| 22 | g.50720681C>T | CA515259986 | SHANK3 | c.2449C>T (p.Arg817Cys) n.3033C>T c.1501C>T (p.Arg501Cys) c.991C>T (p.Arg331Cys) c.*1447C>T (n.*1447C>T) c.2845C>T (p.Arg949Cys) c.2827C>T (p.Arg943Cys) | gnomAD v4 |
| 22 | g.50720682del | CA2657583380 | SHANK3 | c.2450del (p.Arg817ProfsTer6) n.3034del c.1502del (p.Arg501ProfsTer6) c.992del (p.Arg331ProfsTer6) c.*1448del (n.*1448del) c.2846del (p.Arg949ProfsTer6) c.2828del (p.Arg943ProfsTer6) | gnomAD v4 |
| 22 | g.50720682G>A | CA515259987 | SHANK3 | c.2450G>A (p.Arg817His) n.3034G>A c.1502G>A (p.Arg501His) c.992G>A (p.Arg331His) c.*1448G>A (n.*1448G>A) c.2846G>A (p.Arg949His) c.2828G>A (p.Arg943His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50720682G>C | CA515259988 | SHANK3 | c.2450G>C (p.Arg817Pro) n.3034G>C c.1502G>C (p.Arg501Pro) c.992G>C (p.Arg331Pro) c.*1448G>C (n.*1448G>C) c.2846G>C (p.Arg949Pro) c.2828G>C (p.Arg943Pro) | gnomAD v4 |
| 22 | g.50720682G= | CA2411007755 | SHANK3 | c.2450G= (p.Arg817=) n.3034G= c.1502G= (p.Arg501=) c.992G= (p.Arg331=) c.*1448G= (n.*1448G=) c.2846G= (p.Arg949=) c.2828G= (p.Arg943=) | |
| 22 | g.50720682G>T | CA515259989 | SHANK3 | c.2450G>T (p.Arg817Leu) n.3034G>T c.1502G>T (p.Arg501Leu) c.992G>T (p.Arg331Leu) c.*1448G>T (n.*1448G>T) c.2846G>T (p.Arg949Leu) c.2828G>T (p.Arg943Leu) | gnomAD v4 |
| 22 | g.50720683C>A | CA515259990 | SHANK3 | c.2451C>A (p.Arg817=) n.3035C>A c.1503C>A (p.Arg501=) c.993C>A (p.Arg331=) c.*1449C>A (n.*1449C>A) c.2847C>A (p.Arg949=) c.2829C>A (p.Arg943=) | gnomAD v4 |
| 22 | g.50720683C= | CA2411007756 | SHANK3 | c.2451C= (p.Arg817=) n.3035C= c.1503C= (p.Arg501=) c.993C= (p.Arg331=) c.*1449C= (n.*1449C=) c.2847C= (p.Arg949=) c.2829C= (p.Arg943=) | |
| 22 | g.50720683C>G | CA515259991 | SHANK3 | c.2451C>G (p.Arg817=) n.3035C>G c.1503C>G (p.Arg501=) c.993C>G (p.Arg331=) c.*1449C>G (n.*1449C>G) c.2847C>G (p.Arg949=) c.2829C>G (p.Arg943=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720683C>T | CA515259992 | SHANK3 | c.2451C>T (p.Arg817=) n.3035C>T c.1503C>T (p.Arg501=) c.993C>T (p.Arg331=) c.*1449C>T (n.*1449C>T) c.2847C>T (p.Arg949=) c.2829C>T (p.Arg943=) | gnomAD v4 |
| 22 | g.50720684A= | CA2411007757 | SHANK3 | c.2452A= (p.Lys818=) n.3036A= c.1504A= (p.Lys502=) c.994A= (p.Lys332=) c.*1450A= (n.*1450A=) c.2848A= (p.Lys950=) c.2830A= (p.Lys944=) | |
| 22 | g.50720684A>C | CA515259995 | SHANK3 | c.2452A>C (p.Lys818Gln) n.3036A>C c.1504A>C (p.Lys502Gln) c.994A>C (p.Lys332Gln) c.*1450A>C (n.*1450A>C) c.2848A>C (p.Lys950Gln) c.2830A>C (p.Lys944Gln) | gnomAD v4 |
| 22 | g.50720684A>G | CA515259994 | SHANK3 | c.2452A>G (p.Lys818Glu) n.3036A>G c.1504A>G (p.Lys502Glu) c.994A>G (p.Lys332Glu) c.*1450A>G (n.*1450A>G) c.2848A>G (p.Lys950Glu) c.2830A>G (p.Lys944Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50720684A>T | CA515259993 | SHANK3 | c.2452A>T (p.Lys818Ter) n.3036A>T c.1504A>T (p.Lys502Ter) c.994A>T (p.Lys332Ter) c.*1450A>T (n.*1450A>T) c.2848A>T (p.Lys950Ter) c.2830A>T (p.Lys944Ter) | gnomAD v4 |
| 22 | g.50720685del | CA2657583381 | SHANK3 | c.2453del (p.Lys818ArgfsTer5) n.3037del c.1505del (p.Lys502ArgfsTer5) c.995del (p.Lys332ArgfsTer5) c.*1451del (n.*1451del) c.2849del (p.Lys950ArgfsTer5) c.2831del (p.Lys944ArgfsTer5) | gnomAD v4 |
| 22 | g.50720685A= | CA2411007758 | SHANK3 | c.2453A= (p.Lys818=) n.3037A= c.1505A= (p.Lys502=) c.995A= (p.Lys332=) c.*1451A= (n.*1451A=) c.2849A= (p.Lys950=) c.2831A= (p.Lys944=) | |
| 22 | g.50720685A>C | CA515259996 | SHANK3 | c.2453A>C (p.Lys818Thr) n.3037A>C c.1505A>C (p.Lys502Thr) c.995A>C (p.Lys332Thr) c.*1451A>C (n.*1451A>C) c.2849A>C (p.Lys950Thr) c.2831A>C (p.Lys944Thr) | gnomAD v4 |
| 22 | g.50720685A>G | CA515259997 | SHANK3 | c.2453A>G (p.Lys818Arg) n.3037A>G c.1505A>G (p.Lys502Arg) c.995A>G (p.Lys332Arg) c.*1451A>G (n.*1451A>G) c.2849A>G (p.Lys950Arg) c.2831A>G (p.Lys944Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50720685A>T | CA515259998 | SHANK3 | c.2453A>T (p.Lys818Met) n.3037A>T c.1505A>T (p.Lys502Met) c.995A>T (p.Lys332Met) c.*1451A>T (n.*1451A>T) c.2849A>T (p.Lys950Met) c.2831A>T (p.Lys944Met) | gnomAD v4 |
| 22 | g.50720686G>A | CA515259999 | SHANK3 | c.2454G>A (p.Lys818=) n.3038G>A c.1506G>A (p.Lys502=) c.996G>A (p.Lys332=) c.*1452G>A (n.*1452G>A) c.2850G>A (p.Lys950=) c.2832G>A (p.Lys944=) | gnomAD v4 |
| 22 | g.50720686G>C | CA515260000 | SHANK3 | c.2454G>C (p.Lys818Asn) n.3038G>C c.1506G>C (p.Lys502Asn) c.996G>C (p.Lys332Asn) c.*1452G>C (n.*1452G>C) c.2850G>C (p.Lys950Asn) c.2832G>C (p.Lys944Asn) | gnomAD v4 |
| 22 | g.50720686G>T | CA515260001 | SHANK3 | c.2454G>T (p.Lys818Asn) n.3038G>T c.1506G>T (p.Lys502Asn) c.996G>T (p.Lys332Asn) c.*1452G>T (n.*1452G>T) c.2850G>T (p.Lys950Asn) c.2832G>T (p.Lys944Asn) | gnomAD v4 |
| 22 | g.50720687A>C | CA515260002 | SHANK3 | c.2455A>C (p.Ser819Arg) n.3039A>C c.1507A>C (p.Ser503Arg) c.997A>C (p.Ser333Arg) c.*1453A>C (n.*1453A>C) c.2851A>C (p.Ser951Arg) c.2833A>C (p.Ser945Arg) | |
| 22 | g.50720687A>G | CA515260003 | SHANK3 | c.2455A>G (p.Ser819Gly) n.3039A>G c.1507A>G (p.Ser503Gly) c.997A>G (p.Ser333Gly) c.*1453A>G (n.*1453A>G) c.2851A>G (p.Ser951Gly) c.2833A>G (p.Ser945Gly) | gnomAD v4 |
| 22 | g.50720687A>T | CA515260004 | SHANK3 | c.2455A>T (p.Ser819Cys) n.3039A>T c.1507A>T (p.Ser503Cys) c.997A>T (p.Ser333Cys) c.*1453A>T (n.*1453A>T) c.2851A>T (p.Ser951Cys) c.2833A>T (p.Ser945Cys) | 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 |