| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50721198_50721209dup | CA2657580564 | SHANK3 | c.2966_2977dup (p.Ser992_Arg993insGlnAlaProSer) n.3550_3561dup c.2018_2029dup (p.Ser676_Arg677insGlnAlaProSer) c.1508_1519dup (p.Ser506_Arg507insGlnAlaProSer) c.*1964_*1975dup (n.*1964_*1975dup) c.3362_3373dup (p.Ser1124_Arg1125insGlnAlaProSer) c.3344_3355dup (p.Ser1118_Arg1119insGlnAlaProSer) | gnomAD v4 |
| 22 | g.50721199G>A | CA515261431 | SHANK3 | c.2967G>A (p.Gln989=) n.3551G>A c.2019G>A (p.Gln673=) c.1509G>A (p.Gln503=) c.*1965G>A (n.*1965G>A) c.3363G>A (p.Gln1121=) c.3345G>A (p.Gln1115=) | |
| 22 | g.50721199G>C | CA515261432 | SHANK3 | c.2967G>C (p.Gln989His) n.3551G>C c.2019G>C (p.Gln673His) c.1509G>C (p.Gln503His) c.*1965G>C (n.*1965G>C) c.3363G>C (p.Gln1121His) c.3345G>C (p.Gln1115His) | |
| 22 | g.50721199G>T | CA515261430 | SHANK3 | c.2967G>T (p.Gln989His) n.3551G>T c.2019G>T (p.Gln673His) c.1509G>T (p.Gln503His) c.*1965G>T (n.*1965G>T) c.3363G>T (p.Gln1121His) c.3345G>T (p.Gln1115His) | |
| 22 | g.50721200G>A | CA515261433 | SHANK3 | c.2968G>A (p.Ala990Thr) n.3552G>A c.2020G>A (p.Ala674Thr) c.1510G>A (p.Ala504Thr) c.*1966G>A (n.*1966G>A) c.3364G>A (p.Ala1122Thr) c.3346G>A (p.Ala1116Thr) | |
| 22 | g.50721200G>C | CA515261434 | SHANK3 | c.2968G>C (p.Ala990Pro) n.3552G>C c.2020G>C (p.Ala674Pro) c.1510G>C (p.Ala504Pro) c.*1966G>C (n.*1966G>C) c.3364G>C (p.Ala1122Pro) c.3346G>C (p.Ala1116Pro) | ClinVar dbSNP |
| 22 | g.50721200G>T | CA515261435 | SHANK3 | c.2968G>T (p.Ala990Ser) n.3552G>T c.2020G>T (p.Ala674Ser) c.1510G>T (p.Ala504Ser) c.*1966G>T (n.*1966G>T) c.3364G>T (p.Ala1122Ser) c.3346G>T (p.Ala1116Ser) | gnomAD v4 |
| 22 | g.50721201C>A | CA515261436 | SHANK3 | c.2969C>A (p.Ala990Glu) n.3553C>A c.2021C>A (p.Ala674Glu) c.1511C>A (p.Ala504Glu) c.*1967C>A (n.*1967C>A) c.3365C>A (p.Ala1122Glu) c.3347C>A (p.Ala1116Glu) | gnomAD v4 |
| 22 | g.50721201C= | CA2411008086 | SHANK3 | c.2969C= (p.Ala990=) n.3553C= c.2021C= (p.Ala674=) c.1511C= (p.Ala504=) c.*1967C= (n.*1967C=) c.3365C= (p.Ala1122=) c.3347C= (p.Ala1116=) | |
| 22 | g.50721201C>G | CA515261437 | SHANK3 | c.2969C>G (p.Ala990Gly) n.3553C>G c.2021C>G (p.Ala674Gly) c.1511C>G (p.Ala504Gly) c.*1967C>G (n.*1967C>G) c.3365C>G (p.Ala1122Gly) c.3347C>G (p.Ala1116Gly) | |
| 22 | g.50721201C>T | CA515261438 | SHANK3 | c.2969C>T (p.Ala990Val) n.3553C>T c.2021C>T (p.Ala674Val) c.1511C>T (p.Ala504Val) c.*1967C>T (n.*1967C>T) c.3365C>T (p.Ala1122Val) c.3347C>T (p.Ala1116Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 22 | g.50721202G>A | CA515261440 | SHANK3 | c.2970G>A (p.Ala990=) n.3554G>A c.2022G>A (p.Ala674=) c.1512G>A (p.Ala504=) c.*1968G>A (n.*1968G>A) c.3366G>A (p.Ala1122=) c.3348G>A (p.Ala1116=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 22 | g.50721202G>C | CA325578741 | SHANK3 | c.2970G>C (p.Ala990=) n.3554G>C c.2022G>C (p.Ala674=) c.1512G>C (p.Ala504=) c.*1968G>C (n.*1968G>C) c.3366G>C (p.Ala1122=) c.3348G>C (p.Ala1116=) | dbSNP |
| 22 | g.50721202G= | CA2411008087 | SHANK3 | c.2970G= (p.Ala990=) n.3554G= c.2022G= (p.Ala674=) c.1512G= (p.Ala504=) c.*1968G= (n.*1968G=) c.3366G= (p.Ala1122=) c.3348G= (p.Ala1116=) | |
| 22 | g.50721202G>T | CA515261439 | SHANK3 | c.2970G>T (p.Ala990=) n.3554G>T c.2022G>T (p.Ala674=) c.1512G>T (p.Ala504=) c.*1968G>T (n.*1968G>T) c.3366G>T (p.Ala1122=) c.3348G>T (p.Ala1116=) | gnomAD v4 |
| 22 | g.50721202_50721203delinsGC | CA2411008088 | SHANK3 | c.2970_2971delinsGC (p.Ala990=) n.3554_3555delinsGC c.2022_2023delinsGC (p.Ala674=) c.1512_1513delinsGC (p.Ala504=) c.*1968_*1969delinsGC (n.*1968_*1969delinsGC) c.3366_3367delinsGC (p.Ala1122=) c.3348_3349delinsGC (p.Ala1116=) | |
| 22 | g.50721203C>A | CA515261441 | SHANK3 | c.2971C>A (p.Pro991Thr) n.3555C>A c.2023C>A (p.Pro675Thr) c.1513C>A (p.Pro505Thr) c.*1969C>A (n.*1969C>A) c.3367C>A (p.Pro1123Thr) c.3349C>A (p.Pro1117Thr) | |
| 22 | g.50721203C>G | CA515261442 | SHANK3 | c.2971C>G (p.Pro991Ala) n.3555C>G c.2023C>G (p.Pro675Ala) c.1513C>G (p.Pro505Ala) c.*1969C>G (n.*1969C>G) c.3367C>G (p.Pro1123Ala) c.3349C>G (p.Pro1117Ala) | |
| 22 | g.50721203C>T | CA515261443 | SHANK3 | c.2971C>T (p.Pro991Ser) n.3555C>T c.2023C>T (p.Pro675Ser) c.1513C>T (p.Pro505Ser) c.*1969C>T (n.*1969C>T) c.3367C>T (p.Pro1123Ser) c.3349C>T (p.Pro1117Ser) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50721205del | CA1139667206 | SHANK3 | c.2973del (p.Ser992ProfsTer?) n.3557del c.2025del (p.Ser676ProfsTer?) c.1515del (p.Ser506ProfsTer?) c.*1971del (n.*1971del) c.3369del (p.Ser1124ProfsTer?) c.3351del (p.Ser1118ProfsTer?) | ClinVar dbSNP |
| 22 | g.50721204C>A | CA515261444 | SHANK3 | c.2972C>A (p.Pro991His) n.3556C>A c.2024C>A (p.Pro675His) c.1514C>A (p.Pro505His) c.*1970C>A (n.*1970C>A) c.3368C>A (p.Pro1123His) c.3350C>A (p.Pro1117His) | gnomAD v4 |
| 22 | g.50721204C= | CA2411008089 | SHANK3 | c.2972C= (p.Pro991=) n.3556C= c.2024C= (p.Pro675=) c.1514C= (p.Pro505=) c.*1970C= (n.*1970C=) c.3368C= (p.Pro1123=) c.3350C= (p.Pro1117=) | |
| 22 | g.50721204C>G | CA515261445 | SHANK3 | c.2972C>G (p.Pro991Arg) n.3556C>G c.2024C>G (p.Pro675Arg) c.1514C>G (p.Pro505Arg) c.*1970C>G (n.*1970C>G) c.3368C>G (p.Pro1123Arg) c.3350C>G (p.Pro1117Arg) | |
| 22 | g.50721204C>T | CA10326010 | SHANK3 | c.2972C>T (p.Pro991Leu) n.3556C>T c.2024C>T (p.Pro675Leu) c.1514C>T (p.Pro505Leu) c.*1970C>T (n.*1970C>T) c.3368C>T (p.Pro1123Leu) c.3350C>T (p.Pro1117Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721205C>A | CA515261446 | SHANK3 | c.2973C>A (p.Pro991=) n.3557C>A c.2025C>A (p.Pro675=) c.1515C>A (p.Pro505=) c.*1971C>A (n.*1971C>A) c.3369C>A (p.Pro1123=) c.3351C>A (p.Pro1117=) | gnomAD v4 |
| 22 | g.50721205C= | CA2411008090 | SHANK3 | c.2973C= (p.Pro991=) n.3557C= c.2025C= (p.Pro675=) c.1515C= (p.Pro505=) c.*1971C= (n.*1971C=) c.3369C= (p.Pro1123=) c.3351C= (p.Pro1117=) | |
| 22 | g.50721205C>G | CA515261448 | SHANK3 | c.2973C>G (p.Pro991=) n.3557C>G c.2025C>G (p.Pro675=) c.1515C>G (p.Pro505=) c.*1971C>G (n.*1971C>G) c.3369C>G (p.Pro1123=) c.3351C>G (p.Pro1117=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721205C>T | CA515261447 | SHANK3 | c.2973C>T (p.Pro991=) n.3557C>T c.2025C>T (p.Pro675=) c.1515C>T (p.Pro505=) c.*1971C>T (n.*1971C>T) c.3369C>T (p.Pro1123=) c.3351C>T (p.Pro1117=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721206T>A | CA515261449 | SHANK3 | c.2974T>A (p.Ser992Thr) n.3558T>A c.2026T>A (p.Ser676Thr) c.1516T>A (p.Ser506Thr) c.*1972T>A (n.*1972T>A) c.3370T>A (p.Ser1124Thr) c.3352T>A (p.Ser1118Thr) | |
| 22 | g.50721206T>C | CA515261450 | SHANK3 | c.2974T>C (p.Ser992Pro) n.3558T>C c.2026T>C (p.Ser676Pro) c.1516T>C (p.Ser506Pro) c.*1972T>C (n.*1972T>C) c.3370T>C (p.Ser1124Pro) c.3352T>C (p.Ser1118Pro) | |
| 22 | g.50721206T>G | CA515261451 | SHANK3 | c.2974T>G (p.Ser992Ala) n.3558T>G c.2026T>G (p.Ser676Ala) c.1516T>G (p.Ser506Ala) c.*1972T>G (n.*1972T>G) c.3370T>G (p.Ser1124Ala) c.3352T>G (p.Ser1118Ala) | |
| 22 | g.50721207C>A | CA515261452 | SHANK3 | c.2975C>A (p.Ser992Tyr) n.3559C>A c.2027C>A (p.Ser676Tyr) c.1517C>A (p.Ser506Tyr) c.*1973C>A (n.*1973C>A) c.3371C>A (p.Ser1124Tyr) c.3353C>A (p.Ser1118Tyr) | gnomAD v4 |
| 22 | g.50721207C= | CA2411008091 | SHANK3 | c.2975C= (p.Ser992=) n.3559C= c.2027C= (p.Ser676=) c.1517C= (p.Ser506=) c.*1973C= (n.*1973C=) c.3371C= (p.Ser1124=) c.3353C= (p.Ser1118=) | |
| 22 | g.50721207C>G | CA515261453 | SHANK3 | c.2975C>G (p.Ser992Cys) n.3559C>G c.2027C>G (p.Ser676Cys) c.1517C>G (p.Ser506Cys) c.*1973C>G (n.*1973C>G) c.3371C>G (p.Ser1124Cys) c.3353C>G (p.Ser1118Cys) | |
| 22 | g.50721207C>T | CA515261454 | SHANK3 | c.2975C>T (p.Ser992Phe) n.3559C>T c.2027C>T (p.Ser676Phe) c.1517C>T (p.Ser506Phe) c.*1973C>T (n.*1973C>T) c.3371C>T (p.Ser1124Phe) c.3353C>T (p.Ser1118Phe) | dbSNP COSMIC COSMIC |
| 22 | g.50721208C>A | CA515261455 | SHANK3 | c.2976C>A (p.Ser992=) n.3560C>A c.2028C>A (p.Ser676=) c.1518C>A (p.Ser506=) c.*1974C>A (n.*1974C>A) c.3372C>A (p.Ser1124=) c.3354C>A (p.Ser1118=) | gnomAD v4 |
| 22 | g.50721208C>G | CA515261456 | SHANK3 | c.2976C>G (p.Ser992=) n.3560C>G c.2028C>G (p.Ser676=) c.1518C>G (p.Ser506=) c.*1974C>G (n.*1974C>G) c.3372C>G (p.Ser1124=) c.3354C>G (p.Ser1118=) | |
| 22 | g.50721208C>T | CA515261457 | SHANK3 | c.2976C>T (p.Ser992=) n.3560C>T c.2028C>T (p.Ser676=) c.1518C>T (p.Ser506=) c.*1974C>T (n.*1974C>T) c.3372C>T (p.Ser1124=) c.3354C>T (p.Ser1118=) | |
| 22 | g.50721209C>A | CA515261458 | SHANK3 | c.2977C>A (p.Arg993=) n.3561C>A c.2029C>A (p.Arg677=) c.1519C>A (p.Arg507=) c.*1975C>A (n.*1975C>A) c.3373C>A (p.Arg1125=) c.3355C>A (p.Arg1119=) | gnomAD v4 |
| 22 | g.50721209C= | CA2411008092 | SHANK3 | c.2977C= (p.Arg993=) n.3561C= c.2029C= (p.Arg677=) c.1519C= (p.Arg507=) c.*1975C= (n.*1975C=) c.3373C= (p.Arg1125=) c.3355C= (p.Arg1119=) | |
| 22 | g.50721209C>G | CA515261459 | SHANK3 | c.2977C>G (p.Arg993Gly) n.3561C>G c.2029C>G (p.Arg677Gly) c.1519C>G (p.Arg507Gly) c.*1975C>G (n.*1975C>G) c.3373C>G (p.Arg1125Gly) c.3355C>G (p.Arg1119Gly) | gnomAD v4 |
| 22 | g.50721209C>T | CA10326011 | SHANK3 | c.2977C>T (p.Arg993Trp) n.3561C>T c.2029C>T (p.Arg677Trp) c.1519C>T (p.Arg507Trp) c.*1975C>T (n.*1975C>T) c.3373C>T (p.Arg1125Trp) c.3355C>T (p.Arg1119Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721210G>A | CA10326012 | SHANK3 | c.2978G>A (p.Arg993Gln) n.3562G>A c.2030G>A (p.Arg677Gln) c.1520G>A (p.Arg507Gln) c.*1976G>A (n.*1976G>A) c.3374G>A (p.Arg1125Gln) c.3356G>A (p.Arg1119Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721210G>C | CA325578768 | SHANK3 | c.2978G>C (p.Arg993Pro) n.3562G>C c.2030G>C (p.Arg677Pro) c.1520G>C (p.Arg507Pro) c.*1976G>C (n.*1976G>C) c.3374G>C (p.Arg1125Pro) c.3356G>C (p.Arg1119Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721210G= | CA2411008093 | SHANK3 | c.2978G= (p.Arg993=) n.3562G= c.2030G= (p.Arg677=) c.1520G= (p.Arg507=) c.*1976G= (n.*1976G=) c.3374G= (p.Arg1125=) c.3356G= (p.Arg1119=) | |
| 22 | g.50721210G>T | CA515261460 | SHANK3 | c.2978G>T (p.Arg993Leu) n.3562G>T c.2030G>T (p.Arg677Leu) c.1520G>T (p.Arg507Leu) c.*1976G>T (n.*1976G>T) c.3374G>T (p.Arg1125Leu) c.3356G>T (p.Arg1119Leu) | gnomAD v4 |
| 22 | g.50721211G>A | CA515261461 | SHANK3 | c.2979G>A (p.Arg993=) n.3563G>A c.2031G>A (p.Arg677=) c.1521G>A (p.Arg507=) c.*1977G>A (n.*1977G>A) c.3375G>A (p.Arg1125=) c.3357G>A (p.Arg1119=) | gnomAD v4 |
| 22 | g.50721211G>C | CA515261462 | SHANK3 | c.2979G>C (p.Arg993=) n.3563G>C c.2031G>C (p.Arg677=) c.1521G>C (p.Arg507=) c.*1977G>C (n.*1977G>C) c.3375G>C (p.Arg1125=) c.3357G>C (p.Arg1119=) | |
| 22 | g.50721211G>T | CA515261463 | SHANK3 | c.2979G>T (p.Arg993=) n.3563G>T c.2031G>T (p.Arg677=) c.1521G>T (p.Arg507=) c.*1977G>T (n.*1977G>T) c.3375G>T (p.Arg1125=) c.3357G>T (p.Arg1119=) | gnomAD v4 |
| 22 | g.50721211_50721212delinsGT | CA2411008094 | SHANK3 | c.2979_2980delinsGT (p.Arg993=) n.3563_3564delinsGT c.2031_2032delinsGT (p.Arg677=) c.1521_1522delinsGT (p.Arg507=) c.*1977_*1978delinsGT (n.*1977_*1978delinsGT) c.3375_3376delinsGT (p.Arg1125=) c.3357_3358delinsGT (p.Arg1119=) | |
| 22 | g.50721212T>A | CA515261464 | SHANK3 | c.2980T>A (p.Ser994Thr) n.3564T>A c.2032T>A (p.Ser678Thr) c.1522T>A (p.Ser508Thr) c.*1978T>A (n.*1978T>A) c.3376T>A (p.Ser1126Thr) c.3358T>A (p.Ser1120Thr) | |
| 22 | g.50721212T>C | CA515261465 | SHANK3 | c.2980T>C (p.Ser994Pro) n.3564T>C c.2032T>C (p.Ser678Pro) c.1522T>C (p.Ser508Pro) c.*1978T>C (n.*1978T>C) c.3376T>C (p.Ser1126Pro) c.3358T>C (p.Ser1120Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721212T>G | CA515261466 | SHANK3 | c.2980T>G (p.Ser994Ala) n.3564T>G c.2032T>G (p.Ser678Ala) c.1522T>G (p.Ser508Ala) c.*1978T>G (n.*1978T>G) c.3376T>G (p.Ser1126Ala) c.3358T>G (p.Ser1120Ala) | gnomAD v4 |
| 22 | g.50721212T= | CA2411008095 | SHANK3 | c.2980T= (p.Ser994=) n.3564T= c.2032T= (p.Ser678=) c.1522T= (p.Ser508=) c.*1978T= (n.*1978T=) c.3376T= (p.Ser1126=) c.3358T= (p.Ser1120=) | |
| 22 | g.50721212delinsCC | CA658799570 | SHANK3 | c.2980delinsCC (p.Ser994ProfsTer?) n.3564delinsCC c.2032delinsCC (p.Ser678ProfsTer?) c.1522delinsCC (p.Ser508ProfsTer?) c.*1978delinsCC (n.*1978delinsCC) c.3376delinsCC (p.Ser1126ProfsTer?) c.3358delinsCC (p.Ser1120ProfsTer?) | ClinVar dbSNP |
| 22 | g.50721213C>A | CA515261467 | SHANK3 | c.2981C>A (p.Ser994Tyr) n.3565C>A c.2033C>A (p.Ser678Tyr) c.1523C>A (p.Ser508Tyr) c.*1979C>A (n.*1979C>A) c.3377C>A (p.Ser1126Tyr) c.3359C>A (p.Ser1120Tyr) | gnomAD v4 |
| 22 | g.50721213C= | CA2411008096 | SHANK3 | c.2981C= (p.Ser994=) n.3565C= c.2033C= (p.Ser678=) c.1523C= (p.Ser508=) c.*1979C= (n.*1979C=) c.3377C= (p.Ser1126=) c.3359C= (p.Ser1120=) | |
| 22 | g.50721213C>G | CA10326013 | SHANK3 | c.2981C>G (p.Ser994Cys) n.3565C>G c.2033C>G (p.Ser678Cys) c.1523C>G (p.Ser508Cys) c.*1979C>G (n.*1979C>G) c.3377C>G (p.Ser1126Cys) c.3359C>G (p.Ser1120Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721213C>T | CA515261468 | SHANK3 | c.2981C>T (p.Ser994Phe) n.3565C>T c.2033C>T (p.Ser678Phe) c.1523C>T (p.Ser508Phe) c.*1979C>T (n.*1979C>T) c.3377C>T (p.Ser1126Phe) c.3359C>T (p.Ser1120Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721214C>A | CA515261469 | SHANK3 | c.2982C>A (p.Ser994=) n.3566C>A c.2034C>A (p.Ser678=) c.1524C>A (p.Ser508=) c.*1980C>A (n.*1980C>A) c.3378C>A (p.Ser1126=) c.3360C>A (p.Ser1120=) | |
| 22 | g.50721214C>G | CA515261470 | SHANK3 | c.2982C>G (p.Ser994=) n.3566C>G c.2034C>G (p.Ser678=) c.1524C>G (p.Ser508=) c.*1980C>G (n.*1980C>G) c.3378C>G (p.Ser1126=) c.3360C>G (p.Ser1120=) | |
| 22 | g.50721214C>T | CA515261471 | SHANK3 | c.2982C>T (p.Ser994=) n.3566C>T c.2034C>T (p.Ser678=) c.1524C>T (p.Ser508=) c.*1980C>T (n.*1980C>T) c.3378C>T (p.Ser1126=) c.3360C>T (p.Ser1120=) | |
| 22 | g.50721215C>A | CA515261474 | SHANK3 | c.2983C>A (p.Pro995Thr) n.3567C>A c.2035C>A (p.Pro679Thr) c.1525C>A (p.Pro509Thr) c.*1981C>A (n.*1981C>A) c.3379C>A (p.Pro1127Thr) c.3361C>A (p.Pro1121Thr) | gnomAD v4 |
| 22 | g.50721215C>G | CA515261472 | SHANK3 | c.2983C>G (p.Pro995Ala) n.3567C>G c.2035C>G (p.Pro679Ala) c.1525C>G (p.Pro509Ala) c.*1981C>G (n.*1981C>G) c.3379C>G (p.Pro1127Ala) c.3361C>G (p.Pro1121Ala) | gnomAD v4 |
| 22 | g.50721215C>T | CA515261473 | SHANK3 | c.2983C>T (p.Pro995Ser) n.3567C>T c.2035C>T (p.Pro679Ser) c.1525C>T (p.Pro509Ser) c.*1981C>T (n.*1981C>T) c.3379C>T (p.Pro1127Ser) c.3361C>T (p.Pro1121Ser) | |
| 22 | g.50721216C>A | CA515261475 | SHANK3 | c.2984C>A (p.Pro995His) n.3568C>A c.2036C>A (p.Pro679His) c.1526C>A (p.Pro509His) c.*1982C>A (n.*1982C>A) c.3380C>A (p.Pro1127His) c.3362C>A (p.Pro1121His) | gnomAD v4 |
| 22 | g.50721216C>G | CA515261476 | SHANK3 | c.2984C>G (p.Pro995Arg) n.3568C>G c.2036C>G (p.Pro679Arg) c.1526C>G (p.Pro509Arg) c.*1982C>G (n.*1982C>G) c.3380C>G (p.Pro1127Arg) c.3362C>G (p.Pro1121Arg) | gnomAD v4 |
| 22 | g.50721216C>T | CA515261477 | SHANK3 | c.2984C>T (p.Pro995Leu) n.3568C>T c.2036C>T (p.Pro679Leu) c.1526C>T (p.Pro509Leu) c.*1982C>T (n.*1982C>T) c.3380C>T (p.Pro1127Leu) c.3362C>T (p.Pro1121Leu) | gnomAD v4 COSMIC COSMIC |
| 22 | g.50721217C>A | CA515261478 | SHANK3 | c.2985C>A (p.Pro995=) n.3569C>A c.2037C>A (p.Pro679=) c.1527C>A (p.Pro509=) c.*1983C>A (n.*1983C>A) c.3381C>A (p.Pro1127=) c.3363C>A (p.Pro1121=) | gnomAD v4 |
| 22 | g.50721217C= | CA2411008097 | SHANK3 | c.2985C= (p.Pro995=) n.3569C= c.2037C= (p.Pro679=) c.1527C= (p.Pro509=) c.*1983C= (n.*1983C=) c.3381C= (p.Pro1127=) c.3363C= (p.Pro1121=) | |
| 22 | g.50721217C>G | CA515261479 | SHANK3 | c.2985C>G (p.Pro995=) n.3569C>G c.2037C>G (p.Pro679=) c.1527C>G (p.Pro509=) c.*1983C>G (n.*1983C>G) c.3381C>G (p.Pro1127=) c.3363C>G (p.Pro1121=) | gnomAD v4 |
| 22 | g.50721217C>T | CA515261480 | SHANK3 | c.2985C>T (p.Pro995=) n.3569C>T c.2037C>T (p.Pro679=) c.1527C>T (p.Pro509=) c.*1983C>T (n.*1983C>T) c.3381C>T (p.Pro1127=) c.3363C>T (p.Pro1121=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721218A>C | CA515261481 | SHANK3 | c.2986A>C (p.Thr996Pro) n.3570A>C c.2038A>C (p.Thr680Pro) c.1528A>C (p.Thr510Pro) c.*1984A>C (n.*1984A>C) c.3382A>C (p.Thr1128Pro) c.3364A>C (p.Thr1122Pro) | |
| 22 | g.50721218A>G | CA515261482 | SHANK3 | c.2986A>G (p.Thr996Ala) n.3570A>G c.2038A>G (p.Thr680Ala) c.1528A>G (p.Thr510Ala) c.*1984A>G (n.*1984A>G) c.3382A>G (p.Thr1128Ala) c.3364A>G (p.Thr1122Ala) | |
| 22 | g.50721218A>T | CA515261483 | SHANK3 | c.2986A>T (p.Thr996Ser) n.3570A>T c.2038A>T (p.Thr680Ser) c.1528A>T (p.Thr510Ser) c.*1984A>T (n.*1984A>T) c.3382A>T (p.Thr1128Ser) c.3364A>T (p.Thr1122Ser) | |
| 22 | g.50721219C>A | CA515261484 | SHANK3 | c.2987C>A (p.Thr996Lys) n.3571C>A c.2039C>A (p.Thr680Lys) c.1529C>A (p.Thr510Lys) c.*1985C>A (n.*1985C>A) c.3383C>A (p.Thr1128Lys) c.3365C>A (p.Thr1122Lys) | dbSNP |
| 22 | g.50721219C>G | CA515261485 | SHANK3 | c.2987C>G (p.Thr996Arg) n.3571C>G c.2039C>G (p.Thr680Arg) c.1529C>G (p.Thr510Arg) c.*1985C>G (n.*1985C>G) c.3383C>G (p.Thr1128Arg) c.3365C>G (p.Thr1122Arg) | |
| 22 | g.50721219C>T | CA515261486 | SHANK3 | c.2987C>T (p.Thr996Ile) n.3571C>T c.2039C>T (p.Thr680Ile) c.1529C>T (p.Thr510Ile) c.*1985C>T (n.*1985C>T) c.3383C>T (p.Thr1128Ile) c.3365C>T (p.Thr1122Ile) | gnomAD v4 |
| 22 | g.50721220A= | CA2411008098 | SHANK3 | c.2988A= (p.Thr996=) n.3572A= c.2040A= (p.Thr680=) c.1530A= (p.Thr510=) c.*1986A= (n.*1986A=) c.3384A= (p.Thr1128=) c.3366A= (p.Thr1122=) | |
| 22 | g.50721220A>C | CA515261487 | SHANK3 | c.2988A>C (p.Thr996=) n.3572A>C c.2040A>C (p.Thr680=) c.1530A>C (p.Thr510=) c.*1986A>C (n.*1986A>C) c.3384A>C (p.Thr1128=) c.3366A>C (p.Thr1122=) | |
| 22 | g.50721220A>G | CA10326014 | SHANK3 | c.2988A>G (p.Thr996=) n.3572A>G c.2040A>G (p.Thr680=) c.1530A>G (p.Thr510=) c.*1986A>G (n.*1986A>G) c.3384A>G (p.Thr1128=) c.3366A>G (p.Thr1122=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721220A>T | CA10326015 | SHANK3 | c.2988A>T (p.Thr996=) n.3572A>T c.2040A>T (p.Thr680=) c.1530A>T (p.Thr510=) c.*1986A>T (n.*1986A>T) c.3384A>T (p.Thr1128=) c.3366A>T (p.Thr1122=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721221C>A | CA515261488 | SHANK3 | c.2989C>A (p.Pro997Thr) n.3573C>A c.2041C>A (p.Pro681Thr) c.1531C>A (p.Pro511Thr) c.*1987C>A (n.*1987C>A) c.3385C>A (p.Pro1129Thr) c.3367C>A (p.Pro1123Thr) | |
| 22 | g.50721221C= | CA2411008099 | SHANK3 | c.2989C= (p.Pro997=) n.3573C= c.2041C= (p.Pro681=) c.1531C= (p.Pro511=) c.*1987C= (n.*1987C=) c.3385C= (p.Pro1129=) c.3367C= (p.Pro1123=) | |
| 22 | g.50721221C>G | CA515261490 | SHANK3 | c.2989C>G (p.Pro997Ala) n.3573C>G c.2041C>G (p.Pro681Ala) c.1531C>G (p.Pro511Ala) c.*1987C>G (n.*1987C>G) c.3385C>G (p.Pro1129Ala) c.3367C>G (p.Pro1123Ala) | gnomAD v4 |
| 22 | g.50721221C>T | CA515261489 | SHANK3 | c.2989C>T (p.Pro997Ser) n.3573C>T c.2041C>T (p.Pro681Ser) c.1531C>T (p.Pro511Ser) c.*1987C>T (n.*1987C>T) c.3385C>T (p.Pro1129Ser) c.3367C>T (p.Pro1123Ser) | dbSNP gnomAD v4 |
| 22 | g.50721222C>A | CA515261491 | SHANK3 | c.2990C>A (p.Pro997His) n.3574C>A c.2042C>A (p.Pro681His) c.1532C>A (p.Pro511His) c.*1988C>A (n.*1988C>A) c.3386C>A (p.Pro1129His) c.3368C>A (p.Pro1123His) | |
| 22 | g.50721222C>G | CA515261493 | SHANK3 | c.2990C>G (p.Pro997Arg) n.3574C>G c.2042C>G (p.Pro681Arg) c.1532C>G (p.Pro511Arg) c.*1988C>G (n.*1988C>G) c.3386C>G (p.Pro1129Arg) c.3368C>G (p.Pro1123Arg) | |
| 22 | g.50721222C>T | CA515261492 | SHANK3 | c.2990C>T (p.Pro997Leu) n.3574C>T c.2042C>T (p.Pro681Leu) c.1532C>T (p.Pro511Leu) c.*1988C>T (n.*1988C>T) c.3386C>T (p.Pro1129Leu) c.3368C>T (p.Pro1123Leu) | gnomAD v4 |
| 22 | g.50721223C>A | CA515261494 | SHANK3 | c.2991C>A (p.Pro997=) n.3575C>A c.2043C>A (p.Pro681=) c.1533C>A (p.Pro511=) c.*1989C>A (n.*1989C>A) c.3387C>A (p.Pro1129=) c.3369C>A (p.Pro1123=) | gnomAD v4 |
| 22 | g.50721223C= | CA2411008100 | SHANK3 | c.2991C= (p.Pro997=) n.3575C= c.2043C= (p.Pro681=) c.1533C= (p.Pro511=) c.*1989C= (n.*1989C=) c.3387C= (p.Pro1129=) c.3369C= (p.Pro1123=) | |
| 22 | g.50721223C>G | CA515261496 | SHANK3 | c.2991C>G (p.Pro997=) n.3575C>G c.2043C>G (p.Pro681=) c.1533C>G (p.Pro511=) c.*1989C>G (n.*1989C>G) c.3387C>G (p.Pro1129=) c.3369C>G (p.Pro1123=) | |
| 22 | g.50721223C>T | CA515261495 | SHANK3 | c.2991C>T (p.Pro997=) n.3575C>T c.2043C>T (p.Pro681=) c.1533C>T (p.Pro511=) c.*1989C>T (n.*1989C>T) c.3387C>T (p.Pro1129=) c.3369C>T (p.Pro1123=) | dbSNP gnomAD v4 |
| 22 | g.50721224G>A | CA515261497 | SHANK3 | c.2992G>A (p.Val998Met) n.3576G>A c.2044G>A (p.Val682Met) c.1534G>A (p.Val512Met) c.*1990G>A (n.*1990G>A) c.3388G>A (p.Val1130Met) c.3370G>A (p.Val1124Met) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 22 | g.50721224G>C | CA10326016 | SHANK3 | c.2992G>C (p.Val998Leu) n.3576G>C c.2044G>C (p.Val682Leu) c.1534G>C (p.Val512Leu) c.*1990G>C (n.*1990G>C) c.3388G>C (p.Val1130Leu) c.3370G>C (p.Val1124Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721224G= | CA2411008101 | SHANK3 | c.2992G= (p.Val998=) n.3576G= c.2044G= (p.Val682=) c.1534G= (p.Val512=) c.*1990G= (n.*1990G=) c.3388G= (p.Val1130=) c.3370G= (p.Val1124=) | |
| 22 | g.50721224G>T | CA515261498 | SHANK3 | c.2992G>T (p.Val998Leu) n.3576G>T c.2044G>T (p.Val682Leu) c.1534G>T (p.Val512Leu) c.*1990G>T (n.*1990G>T) c.3388G>T (p.Val1130Leu) c.3370G>T (p.Val1124Leu) | |
| 22 | g.50721225T>A | CA515261499 | SHANK3 | c.2993T>A (p.Val998Glu) n.3577T>A c.2045T>A (p.Val682Glu) c.1535T>A (p.Val512Glu) c.*1991T>A (n.*1991T>A) c.3389T>A (p.Val1130Glu) c.3371T>A (p.Val1124Glu) | |
| 22 | g.50721225T>C | CA515261500 | SHANK3 | c.2993T>C (p.Val998Ala) n.3577T>C c.2045T>C (p.Val682Ala) c.1535T>C (p.Val512Ala) c.*1991T>C (n.*1991T>C) c.3389T>C (p.Val1130Ala) c.3371T>C (p.Val1124Ala) | |
| 22 | g.50721225T>G | CA515261501 | SHANK3 | c.2993T>G (p.Val998Gly) n.3577T>G c.2045T>G (p.Val682Gly) c.1535T>G (p.Val512Gly) c.*1991T>G (n.*1991T>G) c.3389T>G (p.Val1130Gly) c.3371T>G (p.Val1124Gly) | |
| 22 | g.50721226G>A | CA515261502 | SHANK3 | c.2994G>A (p.Val998=) n.3578G>A c.2046G>A (p.Val682=) c.1536G>A (p.Val512=) c.*1992G>A (n.*1992G>A) c.3390G>A (p.Val1130=) c.3372G>A (p.Val1124=) | gnomAD v4 |
| 22 | g.50721226G>C | CA515261503 | SHANK3 | c.2994G>C (p.Val998=) n.3578G>C c.2046G>C (p.Val682=) c.1536G>C (p.Val512=) c.*1992G>C (n.*1992G>C) c.3390G>C (p.Val1130=) c.3372G>C (p.Val1124=) | |
| 22 | g.50721226G= | CA2411008102 | SHANK3 | c.2994G= (p.Val998=) n.3578G= c.2046G= (p.Val682=) c.1536G= (p.Val512=) c.*1992G= (n.*1992G=) c.3390G= (p.Val1130=) c.3372G= (p.Val1124=) | |
| 22 | g.50721226G>T | CA515261504 | SHANK3 | c.2994G>T (p.Val998=) n.3578G>T c.2046G>T (p.Val682=) c.1536G>T (p.Val512=) c.*1992G>T (n.*1992G>T) c.3390G>T (p.Val1130=) c.3372G>T (p.Val1124=) | dbSNP gnomAD v4 |
| 22 | g.50721227C>A | CA515261505 | SHANK3 | c.2995C>A (p.His999Asn) n.3579C>A c.2047C>A (p.His683Asn) c.1537C>A (p.His513Asn) c.*1993C>A (n.*1993C>A) c.3391C>A (p.His1131Asn) c.3373C>A (p.His1125Asn) | |
| 22 | g.50721227C>G | CA515261506 | SHANK3 | c.2995C>G (p.His999Asp) n.3579C>G c.2047C>G (p.His683Asp) c.1537C>G (p.His513Asp) c.*1993C>G (n.*1993C>G) c.3391C>G (p.His1131Asp) c.3373C>G (p.His1125Asp) | |
| 22 | g.50721227C>T | CA515261507 | SHANK3 | c.2995C>T (p.His999Tyr) n.3579C>T c.2047C>T (p.His683Tyr) c.1537C>T (p.His513Tyr) c.*1993C>T (n.*1993C>T) c.3391C>T (p.His1131Tyr) c.3373C>T (p.His1125Tyr) | |
| 22 | g.50721228A= | CA2411008103 | SHANK3 | c.2996A= (p.His999=) n.3580A= c.2048A= (p.His683=) c.1538A= (p.His513=) c.*1994A= (n.*1994A=) c.3392A= (p.His1131=) c.3374A= (p.His1125=) | |
| 22 | g.50721228A>C | CA515261508 | SHANK3 | c.2996A>C (p.His999Pro) n.3580A>C c.2048A>C (p.His683Pro) c.1538A>C (p.His513Pro) c.*1994A>C (n.*1994A>C) c.3392A>C (p.His1131Pro) c.3374A>C (p.His1125Pro) | gnomAD v4 |
| 22 | g.50721228A>G | CA515261510 | SHANK3 | c.2996A>G (p.His999Arg) n.3580A>G c.2048A>G (p.His683Arg) c.1538A>G (p.His513Arg) c.*1994A>G (n.*1994A>G) c.3392A>G (p.His1131Arg) c.3374A>G (p.His1125Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721228A>T | CA515261509 | SHANK3 | c.2996A>T (p.His999Leu) n.3580A>T c.2048A>T (p.His683Leu) c.1538A>T (p.His513Leu) c.*1994A>T (n.*1994A>T) c.3392A>T (p.His1131Leu) c.3374A>T (p.His1125Leu) | |
| 22 | g.50721229C>A | CA515261511 | SHANK3 | c.2997C>A (p.His999Gln) n.3581C>A c.2049C>A (p.His683Gln) c.1539C>A (p.His513Gln) c.*1995C>A (n.*1995C>A) c.3393C>A (p.His1131Gln) c.3375C>A (p.His1125Gln) | gnomAD v4 |
| 22 | g.50721229C= | CA2411008104 | SHANK3 | c.2997C= (p.His999=) n.3581C= c.2049C= (p.His683=) c.1539C= (p.His513=) c.*1995C= (n.*1995C=) c.3393C= (p.His1131=) c.3375C= (p.His1125=) | |
| 22 | g.50721229C>G | CA515261512 | SHANK3 | c.2997C>G (p.His999Gln) n.3581C>G c.2049C>G (p.His683Gln) c.1539C>G (p.His513Gln) c.*1995C>G (n.*1995C>G) c.3393C>G (p.His1131Gln) c.3375C>G (p.His1125Gln) | |
| 22 | g.50721229C>T | CA515261513 | SHANK3 | c.2997C>T (p.His999=) n.3581C>T c.2049C>T (p.His683=) c.1539C>T (p.His513=) c.*1995C>T (n.*1995C>T) c.3393C>T (p.His1131=) c.3375C>T (p.His1125=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721230A>C | CA515261514 | SHANK3 | c.2998A>C (p.Ser1000Arg) n.3582A>C c.2050A>C (p.Ser684Arg) c.1540A>C (p.Ser514Arg) c.*1996A>C (n.*1996A>C) c.3394A>C (p.Ser1132Arg) c.3376A>C (p.Ser1126Arg) | |
| 22 | g.50721230A>G | CA515261515 | SHANK3 | c.2998A>G (p.Ser1000Gly) n.3582A>G c.2050A>G (p.Ser684Gly) c.1540A>G (p.Ser514Gly) c.*1996A>G (n.*1996A>G) c.3394A>G (p.Ser1132Gly) c.3376A>G (p.Ser1126Gly) | gnomAD v4 |
| 22 | g.50721230A>T | CA515261516 | SHANK3 | c.2998A>T (p.Ser1000Cys) n.3582A>T c.2050A>T (p.Ser684Cys) c.1540A>T (p.Ser514Cys) c.*1996A>T (n.*1996A>T) c.3394A>T (p.Ser1132Cys) c.3376A>T (p.Ser1126Cys) | |
| 22 | g.50721231G>A | CA515261517 | SHANK3 | c.2999G>A (p.Ser1000Asn) n.3583G>A c.2051G>A (p.Ser684Asn) c.1541G>A (p.Ser514Asn) c.*1997G>A (n.*1997G>A) c.3395G>A (p.Ser1132Asn) c.3377G>A (p.Ser1126Asn) | gnomAD v4 |
| 22 | g.50721231G>C | CA10326017 | SHANK3 | c.2999G>C (p.Ser1000Thr) n.3583G>C c.2051G>C (p.Ser684Thr) c.1541G>C (p.Ser514Thr) c.*1997G>C (n.*1997G>C) c.3395G>C (p.Ser1132Thr) c.3377G>C (p.Ser1126Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721231G= | CA2411008105 | SHANK3 | c.2999G= (p.Ser1000=) n.3583G= c.2051G= (p.Ser684=) c.1541G= (p.Ser514=) c.*1997G= (n.*1997G=) c.3395G= (p.Ser1132=) c.3377G= (p.Ser1126=) | |
| 22 | g.50721231G>T | CA515261518 | SHANK3 | c.2999G>T (p.Ser1000Ile) n.3583G>T c.2051G>T (p.Ser684Ile) c.1541G>T (p.Ser514Ile) c.*1997G>T (n.*1997G>T) c.3395G>T (p.Ser1132Ile) c.3377G>T (p.Ser1126Ile) | |
| 22 | g.50721232T>A | CA515261520 | SHANK3 | c.3000T>A (p.Ser1000Arg) n.3584T>A c.2052T>A (p.Ser684Arg) c.1542T>A (p.Ser514Arg) c.*1998T>A (n.*1998T>A) c.3396T>A (p.Ser1132Arg) c.3378T>A (p.Ser1126Arg) | |
| 22 | g.50721232T>C | CA515261521 | SHANK3 | c.3000T>C (p.Ser1000=) n.3584T>C c.2052T>C (p.Ser684=) c.1542T>C (p.Ser514=) c.*1998T>C (n.*1998T>C) c.3396T>C (p.Ser1132=) c.3378T>C (p.Ser1126=) | |
| 22 | g.50721232T>G | CA515261519 | SHANK3 | c.3000T>G (p.Ser1000Arg) n.3584T>G c.2052T>G (p.Ser684Arg) c.1542T>G (p.Ser514Arg) c.*1998T>G (n.*1998T>G) c.3396T>G (p.Ser1132Arg) c.3378T>G (p.Ser1126Arg) | gnomAD v4 |
| 22 | g.50721233C>A | CA515261522 | SHANK3 | c.3001C>A (p.Pro1001Thr) n.3585C>A c.2053C>A (p.Pro685Thr) c.1543C>A (p.Pro515Thr) c.*1999C>A (n.*1999C>A) c.3397C>A (p.Pro1133Thr) c.3379C>A (p.Pro1127Thr) | |
| 22 | g.50721233C>G | CA515261523 | SHANK3 | c.3001C>G (p.Pro1001Ala) n.3585C>G c.2053C>G (p.Pro685Ala) c.1543C>G (p.Pro515Ala) c.*1999C>G (n.*1999C>G) c.3397C>G (p.Pro1133Ala) c.3379C>G (p.Pro1127Ala) | |
| 22 | g.50721233C>T | CA515261524 | SHANK3 | c.3001C>T (p.Pro1001Ser) n.3585C>T c.2053C>T (p.Pro685Ser) c.1543C>T (p.Pro515Ser) c.*1999C>T (n.*1999C>T) c.3397C>T (p.Pro1133Ser) c.3379C>T (p.Pro1127Ser) | |
| 22 | g.50721234C>A | CA10326018 | SHANK3 | c.3002C>A (p.Pro1001His) n.3586C>A c.2054C>A (p.Pro685His) c.1544C>A (p.Pro515His) c.*2000C>A (n.*2000C>A) c.3398C>A (p.Pro1133His) c.3380C>A (p.Pro1127His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721234C= | CA2411008106 | SHANK3 | c.3002C= (p.Pro1001=) n.3586C= c.2054C= (p.Pro685=) c.1544C= (p.Pro515=) c.*2000C= (n.*2000C=) c.3398C= (p.Pro1133=) c.3380C= (p.Pro1127=) | |
| 22 | g.50721234C>G | CA515261525 | SHANK3 | c.3002C>G (p.Pro1001Arg) n.3586C>G c.2054C>G (p.Pro685Arg) c.1544C>G (p.Pro515Arg) c.*2000C>G (n.*2000C>G) c.3398C>G (p.Pro1133Arg) c.3380C>G (p.Pro1127Arg) | ClinVar |
| 22 | g.50721234C>T | CA515261526 | SHANK3 | c.3002C>T (p.Pro1001Leu) n.3586C>T c.2054C>T (p.Pro685Leu) c.1544C>T (p.Pro515Leu) c.*2000C>T (n.*2000C>T) c.3398C>T (p.Pro1133Leu) c.3380C>T (p.Pro1127Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721235C>A | CA515261527 | SHANK3 | c.3003C>A (p.Pro1001=) n.3587C>A c.2055C>A (p.Pro685=) c.1545C>A (p.Pro515=) c.*2001C>A (n.*2001C>A) c.3399C>A (p.Pro1133=) c.3381C>A (p.Pro1127=) | gnomAD v4 |
| 22 | g.50721235C= | CA2411008107 | SHANK3 | c.3003C= (p.Pro1001=) n.3587C= c.2055C= (p.Pro685=) c.1545C= (p.Pro515=) c.*2001C= (n.*2001C=) c.3399C= (p.Pro1133=) c.3381C= (p.Pro1127=) | |
| 22 | g.50721235C>G | CA515261528 | SHANK3 | c.3003C>G (p.Pro1001=) n.3587C>G c.2055C>G (p.Pro685=) c.1545C>G (p.Pro515=) c.*2001C>G (n.*2001C>G) c.3399C>G (p.Pro1133=) c.3381C>G (p.Pro1127=) | gnomAD v4 |
| 22 | g.50721235C>T | CA10326019 | SHANK3 | c.3003C>T (p.Pro1001=) n.3587C>T c.2055C>T (p.Pro685=) c.1545C>T (p.Pro515=) c.*2001C>T (n.*2001C>T) c.3399C>T (p.Pro1133=) c.3381C>T (p.Pro1127=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721236G>A | CA515261529 | SHANK3 | c.3004G>A (p.Asp1002Asn) n.3588G>A c.2056G>A (p.Asp686Asn) c.1546G>A (p.Asp516Asn) c.*2002G>A (n.*2002G>A) c.3400G>A (p.Asp1134Asn) c.3382G>A (p.Asp1128Asn) | gnomAD v4 |
| 22 | g.50721236G>C | CA515261530 | SHANK3 | c.3004G>C (p.Asp1002His) n.3588G>C c.2056G>C (p.Asp686His) c.1546G>C (p.Asp516His) c.*2002G>C (n.*2002G>C) c.3400G>C (p.Asp1134His) c.3382G>C (p.Asp1128His) | |
| 22 | g.50721236G>T | CA515261531 | SHANK3 | c.3004G>T (p.Asp1002Tyr) n.3588G>T c.2056G>T (p.Asp686Tyr) c.1546G>T (p.Asp516Tyr) c.*2002G>T (n.*2002G>T) c.3400G>T (p.Asp1134Tyr) c.3382G>T (p.Asp1128Tyr) | |
| 22 | g.50721237A= | CA2411008108 | SHANK3 | c.3005A= (p.Asp1002=) n.3589A= c.2057A= (p.Asp686=) c.1547A= (p.Asp516=) c.*2003A= (n.*2003A=) c.3401A= (p.Asp1134=) c.3383A= (p.Asp1128=) | |
| 22 | g.50721237A>C | CA515261534 | SHANK3 | c.3005A>C (p.Asp1002Ala) n.3589A>C c.2057A>C (p.Asp686Ala) c.1547A>C (p.Asp516Ala) c.*2003A>C (n.*2003A>C) c.3401A>C (p.Asp1134Ala) c.3383A>C (p.Asp1128Ala) | |
| 22 | g.50721237A>G | CA515261532 | SHANK3 | c.3005A>G (p.Asp1002Gly) n.3589A>G c.2057A>G (p.Asp686Gly) c.1547A>G (p.Asp516Gly) c.*2003A>G (n.*2003A>G) c.3401A>G (p.Asp1134Gly) c.3383A>G (p.Asp1128Gly) | |
| 22 | g.50721237A>T | CA515261533 | SHANK3 | c.3005A>T (p.Asp1002Val) n.3589A>T c.2057A>T (p.Asp686Val) c.1547A>T (p.Asp516Val) c.*2003A>T (n.*2003A>T) c.3401A>T (p.Asp1134Val) c.3383A>T (p.Asp1128Val) | dbSNP |
| 22 | g.50721238C>A | CA515261535 | SHANK3 | c.3006C>A (p.Asp1002Glu) n.3590C>A c.2058C>A (p.Asp686Glu) c.1548C>A (p.Asp516Glu) c.*2004C>A (n.*2004C>A) c.3402C>A (p.Asp1134Glu) c.3384C>A (p.Asp1128Glu) | |
| 22 | g.50721238C= | CA2411008109 | SHANK3 | c.3006C= (p.Asp1002=) n.3590C= c.2058C= (p.Asp686=) c.1548C= (p.Asp516=) c.*2004C= (n.*2004C=) c.3402C= (p.Asp1134=) c.3384C= (p.Asp1128=) | |
| 22 | g.50721238C>G | CA515261536 | SHANK3 | c.3006C>G (p.Asp1002Glu) n.3590C>G c.2058C>G (p.Asp686Glu) c.1548C>G (p.Asp516Glu) c.*2004C>G (n.*2004C>G) c.3402C>G (p.Asp1134Glu) c.3384C>G (p.Asp1128Glu) | |
| 22 | g.50721238C>T | CA325578824 | SHANK3 | c.3006C>T (p.Asp1002=) n.3590C>T c.2058C>T (p.Asp686=) c.1548C>T (p.Asp516=) c.*2004C>T (n.*2004C>T) c.3402C>T (p.Asp1134=) c.3384C>T (p.Asp1128=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721239G>A | CA10326020 | SHANK3 | c.3007G>A (p.Ala1003Thr) n.3591G>A c.2059G>A (p.Ala687Thr) c.1549G>A (p.Ala517Thr) c.*2005G>A (n.*2005G>A) c.3403G>A (p.Ala1135Thr) c.3385G>A (p.Ala1129Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721239G>C | CA515261537 | SHANK3 | c.3007G>C (p.Ala1003Pro) n.3591G>C c.2059G>C (p.Ala687Pro) c.1549G>C (p.Ala517Pro) c.*2005G>C (n.*2005G>C) c.3403G>C (p.Ala1135Pro) c.3385G>C (p.Ala1129Pro) | |
| 22 | g.50721239G= | CA2411008110 | SHANK3 | c.3007G= (p.Ala1003=) n.3591G= c.2059G= (p.Ala687=) c.1549G= (p.Ala517=) c.*2005G= (n.*2005G=) c.3403G= (p.Ala1135=) c.3385G= (p.Ala1129=) | |
| 22 | g.50721239G>T | CA515261538 | SHANK3 | c.3007G>T (p.Ala1003Ser) n.3591G>T c.2059G>T (p.Ala687Ser) c.1549G>T (p.Ala517Ser) c.*2005G>T (n.*2005G>T) c.3403G>T (p.Ala1135Ser) c.3385G>T (p.Ala1129Ser) | |
| 22 | g.50721240C>A | CA515261539 | SHANK3 | c.3008C>A (p.Ala1003Asp) n.3592C>A c.2060C>A (p.Ala687Asp) c.1550C>A (p.Ala517Asp) c.*2006C>A (n.*2006C>A) c.3404C>A (p.Ala1135Asp) c.3386C>A (p.Ala1129Asp) | gnomAD v4 |
| 22 | g.50721240C= | CA2411008111 | SHANK3 | c.3008C= (p.Ala1003=) n.3592C= c.2060C= (p.Ala687=) c.1550C= (p.Ala517=) c.*2006C= (n.*2006C=) c.3404C= (p.Ala1135=) c.3386C= (p.Ala1129=) | |
| 22 | g.50721240C>G | CA515261540 | SHANK3 | c.3008C>G (p.Ala1003Gly) n.3592C>G c.2060C>G (p.Ala687Gly) c.1550C>G (p.Ala517Gly) c.*2006C>G (n.*2006C>G) c.3404C>G (p.Ala1135Gly) c.3386C>G (p.Ala1129Gly) | gnomAD v4 |
| 22 | g.50721240C>T | CA325578829 | SHANK3 | c.3008C>T (p.Ala1003Val) n.3592C>T c.2060C>T (p.Ala687Val) c.1550C>T (p.Ala517Val) c.*2006C>T (n.*2006C>T) c.3404C>T (p.Ala1135Val) c.3386C>T (p.Ala1129Val) | dbSNP |
| 22 | g.50721241C>A | CA515261541 | SHANK3 | c.3009C>A (p.Ala1003=) n.3593C>A c.2061C>A (p.Ala687=) c.1551C>A (p.Ala517=) c.*2007C>A (n.*2007C>A) c.3405C>A (p.Ala1135=) c.3387C>A (p.Ala1129=) | gnomAD v4 |
| 22 | g.50721241C= | CA2411008112 | SHANK3 | c.3009C= (p.Ala1003=) n.3593C= c.2061C= (p.Ala687=) c.1551C= (p.Ala517=) c.*2007C= (n.*2007C=) c.3405C= (p.Ala1135=) c.3387C= (p.Ala1129=) | |
| 22 | g.50721241C>G | CA515261542 | SHANK3 | c.3009C>G (p.Ala1003=) n.3593C>G c.2061C>G (p.Ala687=) c.1551C>G (p.Ala517=) c.*2007C>G (n.*2007C>G) c.3405C>G (p.Ala1135=) c.3387C>G (p.Ala1129=) | |
| 22 | g.50721241C>T | CA10326021 | SHANK3 | c.3009C>T (p.Ala1003=) n.3593C>T c.2061C>T (p.Ala687=) c.1551C>T (p.Ala517=) c.*2007C>T (n.*2007C>T) c.3405C>T (p.Ala1135=) c.3387C>T (p.Ala1129=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721242G>A | CA515261545 | SHANK3 | c.3010G>A (p.Asp1004Asn) n.3594G>A c.2062G>A (p.Asp688Asn) c.1552G>A (p.Asp518Asn) c.*2008G>A (n.*2008G>A) c.3406G>A (p.Asp1136Asn) c.3388G>A (p.Asp1130Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721242G>C | CA515261544 | SHANK3 | c.3010G>C (p.Asp1004His) n.3594G>C c.2062G>C (p.Asp688His) c.1552G>C (p.Asp518His) c.*2008G>C (n.*2008G>C) c.3406G>C (p.Asp1136His) c.3388G>C (p.Asp1130His) | |
| 22 | g.50721242G= | CA2411008113 | SHANK3 | c.3010G= (p.Asp1004=) n.3594G= c.2062G= (p.Asp688=) c.1552G= (p.Asp518=) c.*2008G= (n.*2008G=) c.3406G= (p.Asp1136=) c.3388G= (p.Asp1130=) | |
| 22 | g.50721242G>T | CA515261543 | SHANK3 | c.3010G>T (p.Asp1004Tyr) n.3594G>T c.2062G>T (p.Asp688Tyr) c.1552G>T (p.Asp518Tyr) c.*2008G>T (n.*2008G>T) c.3406G>T (p.Asp1136Tyr) c.3388G>T (p.Asp1130Tyr) | dbSNP gnomAD v2 |
| 22 | g.50721243A>C | CA515261546 | SHANK3 | c.3011A>C (p.Asp1004Ala) n.3595A>C c.2063A>C (p.Asp688Ala) c.1553A>C (p.Asp518Ala) c.*2009A>C (n.*2009A>C) c.3407A>C (p.Asp1136Ala) c.3389A>C (p.Asp1130Ala) | |
| 22 | g.50721243A>G | CA515261548 | SHANK3 | c.3011A>G (p.Asp1004Gly) n.3595A>G c.2063A>G (p.Asp688Gly) c.1553A>G (p.Asp518Gly) c.*2009A>G (n.*2009A>G) c.3407A>G (p.Asp1136Gly) c.3389A>G (p.Asp1130Gly) | |
| 22 | g.50721243A>T | CA515261547 | SHANK3 | c.3011A>T (p.Asp1004Val) n.3595A>T c.2063A>T (p.Asp688Val) c.1553A>T (p.Asp518Val) c.*2009A>T (n.*2009A>T) c.3407A>T (p.Asp1136Val) c.3389A>T (p.Asp1130Val) | |
| 22 | g.50721243dup | CA2580099986 | SHANK3 | c.3011dup (p.Asp1004GlufsTer?) n.3595dup c.2063dup (p.Asp688GlufsTer?) c.1553dup (p.Asp518GlufsTer?) c.*2009dup (n.*2009dup) c.3407dup (p.Asp1136GlufsTer?) c.3389dup (p.Asp1130GlufsTer?) | ClinVar |
| 22 | g.50721244C>A | CA515261549 | SHANK3 | c.3012C>A (p.Asp1004Glu) n.3596C>A c.2064C>A (p.Asp688Glu) c.1554C>A (p.Asp518Glu) c.*2010C>A (n.*2010C>A) c.3408C>A (p.Asp1136Glu) c.3390C>A (p.Asp1130Glu) | |
| 22 | g.50721244C>G | CA515261550 | SHANK3 | c.3012C>G (p.Asp1004Glu) n.3596C>G c.2064C>G (p.Asp688Glu) c.1554C>G (p.Asp518Glu) c.*2010C>G (n.*2010C>G) c.3408C>G (p.Asp1136Glu) c.3390C>G (p.Asp1130Glu) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50721244C>T | CA515261551 | SHANK3 | c.3012C>T (p.Asp1004=) n.3596C>T c.2064C>T (p.Asp688=) c.1554C>T (p.Asp518=) c.*2010C>T (n.*2010C>T) c.3408C>T (p.Asp1136=) c.3390C>T (p.Asp1130=) | gnomAD v4 |
| 22 | g.50721245C>A | CA515261552 | SHANK3 | c.3013C>A (p.Arg1005Ser) n.3597C>A c.2065C>A (p.Arg689Ser) c.1555C>A (p.Arg519Ser) c.*2011C>A (n.*2011C>A) c.3409C>A (p.Arg1137Ser) c.3391C>A (p.Arg1131Ser) | dbSNP gnomAD v4 |
| 22 | g.50721245C= | CA2411008114 | SHANK3 | c.3013C= (p.Arg1005=) n.3597C= c.2065C= (p.Arg689=) c.1555C= (p.Arg519=) c.*2011C= (n.*2011C=) c.3409C= (p.Arg1137=) c.3391C= (p.Arg1131=) | |
| 22 | g.50721245C>G | CA515261553 | SHANK3 | c.3013C>G (p.Arg1005Gly) n.3597C>G c.2065C>G (p.Arg689Gly) c.1555C>G (p.Arg519Gly) c.*2011C>G (n.*2011C>G) c.3409C>G (p.Arg1137Gly) c.3391C>G (p.Arg1131Gly) | dbSNP |
| 22 | g.50721245C>T | CA10326022 | SHANK3 | c.3013C>T (p.Arg1005Cys) n.3597C>T c.2065C>T (p.Arg689Cys) c.1555C>T (p.Arg519Cys) c.*2011C>T (n.*2011C>T) c.3409C>T (p.Arg1137Cys) c.3391C>T (p.Arg1131Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 22 | g.50721246G>A | CA10326023 | SHANK3 | c.3014G>A (p.Arg1005His) n.3598G>A c.2066G>A (p.Arg689His) c.1556G>A (p.Arg519His) c.*2012G>A (n.*2012G>A) c.3410G>A (p.Arg1137His) c.3392G>A (p.Arg1131His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721246G>C | CA515261554 | SHANK3 | c.3014G>C (p.Arg1005Pro) n.3598G>C c.2066G>C (p.Arg689Pro) c.1556G>C (p.Arg519Pro) c.*2012G>C (n.*2012G>C) c.3410G>C (p.Arg1137Pro) c.3392G>C (p.Arg1131Pro) | |
| 22 | g.50721246G= | CA2411008115 | SHANK3 | c.3014G= (p.Arg1005=) n.3598G= c.2066G= (p.Arg689=) c.1556G= (p.Arg519=) c.*2012G= (n.*2012G=) c.3410G= (p.Arg1137=) c.3392G= (p.Arg1131=) | |
| 22 | g.50721246G>T | CA515261555 | SHANK3 | c.3014G>T (p.Arg1005Leu) n.3598G>T c.2066G>T (p.Arg689Leu) c.1556G>T (p.Arg519Leu) c.*2012G>T (n.*2012G>T) c.3410G>T (p.Arg1137Leu) c.3392G>T (p.Arg1131Leu) | gnomAD v4 |
| 22 | g.50721247C>A | CA515261556 | SHANK3 | c.3015C>A (p.Arg1005=) n.3599C>A c.2067C>A (p.Arg689=) c.1557C>A (p.Arg519=) c.*2013C>A (n.*2013C>A) c.3411C>A (p.Arg1137=) c.3393C>A (p.Arg1131=) | gnomAD v4 |
| 22 | g.50721247C= | CA2411008116 | SHANK3 | c.3015C= (p.Arg1005=) n.3599C= c.2067C= (p.Arg689=) c.1557C= (p.Arg519=) c.*2013C= (n.*2013C=) c.3411C= (p.Arg1137=) c.3393C= (p.Arg1131=) | |
| 22 | g.50721247C>G | CA515261557 | SHANK3 | c.3015C>G (p.Arg1005=) n.3599C>G c.2067C>G (p.Arg689=) c.1557C>G (p.Arg519=) c.*2013C>G (n.*2013C>G) c.3411C>G (p.Arg1137=) c.3393C>G (p.Arg1131=) | |
| 22 | g.50721247C>T | CA515261558 | SHANK3 | c.3015C>T (p.Arg1005=) n.3599C>T c.2067C>T (p.Arg689=) c.1557C>T (p.Arg519=) c.*2013C>T (n.*2013C>T) c.3411C>T (p.Arg1137=) c.3393C>T (p.Arg1131=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721248C>A | CA515261559 | SHANK3 | c.3016C>A (p.Pro1006Thr) n.3600C>A c.2068C>A (p.Pro690Thr) c.1558C>A (p.Pro520Thr) c.*2014C>A (n.*2014C>A) c.3412C>A (p.Pro1138Thr) c.3394C>A (p.Pro1132Thr) | gnomAD v4 |
| 22 | g.50721248C>G | CA515261561 | SHANK3 | c.3016C>G (p.Pro1006Ala) n.3600C>G c.2068C>G (p.Pro690Ala) c.1558C>G (p.Pro520Ala) c.*2014C>G (n.*2014C>G) c.3412C>G (p.Pro1138Ala) c.3394C>G (p.Pro1132Ala) | |
| 22 | g.50721248C>T | CA515261560 | SHANK3 | c.3016C>T (p.Pro1006Ser) n.3600C>T c.2068C>T (p.Pro690Ser) c.1558C>T (p.Pro520Ser) c.*2014C>T (n.*2014C>T) c.3412C>T (p.Pro1138Ser) c.3394C>T (p.Pro1132Ser) | gnomAD v4 |
| 22 | g.50721249C>A | CA515261562 | SHANK3 | c.3017C>A (p.Pro1006His) n.3601C>A c.2069C>A (p.Pro690His) c.1559C>A (p.Pro520His) c.*2015C>A (n.*2015C>A) c.3413C>A (p.Pro1138His) c.3395C>A (p.Pro1132His) | |
| 22 | g.50721249C= | CA2411008117 | SHANK3 | c.3017C= (p.Pro1006=) n.3601C= c.2069C= (p.Pro690=) c.1559C= (p.Pro520=) c.*2015C= (n.*2015C=) c.3413C= (p.Pro1138=) c.3395C= (p.Pro1132=) | |
| 22 | g.50721249C>G | CA515261563 | SHANK3 | c.3017C>G (p.Pro1006Arg) n.3601C>G c.2069C>G (p.Pro690Arg) c.1559C>G (p.Pro520Arg) c.*2015C>G (n.*2015C>G) c.3413C>G (p.Pro1138Arg) c.3395C>G (p.Pro1132Arg) | dbSNP |
| 22 | g.50721249C>T | CA10326024 | SHANK3 | c.3017C>T (p.Pro1006Leu) n.3601C>T c.2069C>T (p.Pro690Leu) c.1559C>T (p.Pro520Leu) c.*2015C>T (n.*2015C>T) c.3413C>T (p.Pro1138Leu) c.3395C>T (p.Pro1132Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721250C>A | CA515261564 | SHANK3 | c.3018C>A (p.Pro1006=) n.3602C>A c.2070C>A (p.Pro690=) c.1560C>A (p.Pro520=) c.*2016C>A (n.*2016C>A) c.3414C>A (p.Pro1138=) c.3396C>A (p.Pro1132=) | gnomAD v4 |
| 22 | g.50721250C= | CA2411008118 | SHANK3 | c.3018C= (p.Pro1006=) n.3602C= c.2070C= (p.Pro690=) c.1560C= (p.Pro520=) c.*2016C= (n.*2016C=) c.3414C= (p.Pro1138=) c.3396C= (p.Pro1132=) | |
| 22 | g.50721250C>G | CA325578856 | SHANK3 | c.3018C>G (p.Pro1006=) n.3602C>G c.2070C>G (p.Pro690=) c.1560C>G (p.Pro520=) c.*2016C>G (n.*2016C>G) c.3414C>G (p.Pro1138=) c.3396C>G (p.Pro1132=) | dbSNP gnomAD v2 |
| 22 | g.50721250C>T | CA515261565 | SHANK3 | c.3018C>T (p.Pro1006=) n.3602C>T c.2070C>T (p.Pro690=) c.1560C>T (p.Pro520=) c.*2016C>T (n.*2016C>T) c.3414C>T (p.Pro1138=) c.3396C>T (p.Pro1132=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721251G>A | CA10326025 | SHANK3 | c.3019G>A (p.Gly1007Arg) n.3603G>A c.2071G>A (p.Gly691Arg) c.1561G>A (p.Gly521Arg) c.*2017G>A (n.*2017G>A) c.3415G>A (p.Gly1139Arg) c.3397G>A (p.Gly1133Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 22 | g.50721251G>C | CA515261566 | SHANK3 | c.3019G>C (p.Gly1007Arg) n.3603G>C c.2071G>C (p.Gly691Arg) c.1561G>C (p.Gly521Arg) c.*2017G>C (n.*2017G>C) c.3415G>C (p.Gly1139Arg) c.3397G>C (p.Gly1133Arg) | |
| 22 | g.50721251G= | CA2411008119 | SHANK3 | c.3019G= (p.Gly1007=) n.3603G= c.2071G= (p.Gly691=) c.1561G= (p.Gly521=) c.*2017G= (n.*2017G=) c.3415G= (p.Gly1139=) c.3397G= (p.Gly1133=) | |
| 22 | g.50721251G>T | CA515261567 | SHANK3 | c.3019G>T (p.Gly1007Ter) n.3603G>T c.2071G>T (p.Gly691Ter) c.1561G>T (p.Gly521Ter) c.*2017G>T (n.*2017G>T) c.3415G>T (p.Gly1139Ter) c.3397G>T (p.Gly1133Ter) | |
| 22 | g.50721252G>A | CA10326026 | SHANK3 | c.3020G>A (p.Gly1007Glu) n.3604G>A c.2072G>A (p.Gly691Glu) c.1562G>A (p.Gly521Glu) c.*2018G>A (n.*2018G>A) c.3416G>A (p.Gly1139Glu) c.3398G>A (p.Gly1133Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721252G>C | CA515261569 | SHANK3 | c.3020G>C (p.Gly1007Ala) n.3604G>C c.2072G>C (p.Gly691Ala) c.1562G>C (p.Gly521Ala) c.*2018G>C (n.*2018G>C) c.3416G>C (p.Gly1139Ala) c.3398G>C (p.Gly1133Ala) | gnomAD v4 |
| 22 | g.50721252G= | CA2411008120 | SHANK3 | c.3020G= (p.Gly1007=) n.3604G= c.2072G= (p.Gly691=) c.1562G= (p.Gly521=) c.*2018G= (n.*2018G=) c.3416G= (p.Gly1139=) c.3398G= (p.Gly1133=) | |
| 22 | g.50721252G>T | CA515261568 | SHANK3 | c.3020G>T (p.Gly1007Val) n.3604G>T c.2072G>T (p.Gly691Val) c.1562G>T (p.Gly521Val) c.*2018G>T (n.*2018G>T) c.3416G>T (p.Gly1139Val) c.3398G>T (p.Gly1133Val) | |
| 22 | g.50721253A= | CA2411008121 | SHANK3 | c.3021A= (p.Gly1007=) n.3605A= c.2073A= (p.Gly691=) c.1563A= (p.Gly521=) c.*2019A= (n.*2019A=) c.3417A= (p.Gly1139=) c.3399A= (p.Gly1133=) | |
| 22 | g.50721253A>C | CA515261570 | SHANK3 | c.3021A>C (p.Gly1007=) n.3605A>C c.2073A>C (p.Gly691=) c.1563A>C (p.Gly521=) c.*2019A>C (n.*2019A>C) c.3417A>C (p.Gly1139=) c.3399A>C (p.Gly1133=) | |
| 22 | g.50721253A>G | CA325578875 | SHANK3 | c.3021A>G (p.Gly1007=) n.3605A>G c.2073A>G (p.Gly691=) c.1563A>G (p.Gly521=) c.*2019A>G (n.*2019A>G) c.3417A>G (p.Gly1139=) c.3399A>G (p.Gly1133=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721253A>T | CA515261571 | SHANK3 | c.3021A>T (p.Gly1007=) n.3605A>T c.2073A>T (p.Gly691=) c.1563A>T (p.Gly521=) c.*2019A>T (n.*2019A>T) c.3417A>T (p.Gly1139=) c.3399A>T (p.Gly1133=) | |
| 22 | g.50721254C>A | CA515261572 | SHANK3 | c.3022C>A (p.Pro1008Thr) n.3606C>A c.2074C>A (p.Pro692Thr) c.1564C>A (p.Pro522Thr) c.*2020C>A (n.*2020C>A) c.3418C>A (p.Pro1140Thr) c.3400C>A (p.Pro1134Thr) | gnomAD v4 |
| 22 | g.50721254C= | CA2411008122 | SHANK3 | c.3022C= (p.Pro1008=) n.3606C= c.2074C= (p.Pro692=) c.1564C= (p.Pro522=) c.*2020C= (n.*2020C=) c.3418C= (p.Pro1140=) c.3400C= (p.Pro1134=) | |
| 22 | g.50721254C>G | CA515261573 | SHANK3 | c.3022C>G (p.Pro1008Ala) n.3606C>G c.2074C>G (p.Pro692Ala) c.1564C>G (p.Pro522Ala) c.*2020C>G (n.*2020C>G) c.3418C>G (p.Pro1140Ala) c.3400C>G (p.Pro1134Ala) | ClinVar dbSNP |
| 22 | g.50721254C>T | CA515261574 | SHANK3 | c.3022C>T (p.Pro1008Ser) n.3606C>T c.2074C>T (p.Pro692Ser) c.1564C>T (p.Pro522Ser) c.*2020C>T (n.*2020C>T) c.3418C>T (p.Pro1140Ser) c.3400C>T (p.Pro1134Ser) | gnomAD v4 |
| 22 | g.50721255C>A | CA515261575 | SHANK3 | c.3023C>A (p.Pro1008His) n.3607C>A c.2075C>A (p.Pro692His) c.1565C>A (p.Pro522His) c.*2021C>A (n.*2021C>A) c.3419C>A (p.Pro1140His) c.3401C>A (p.Pro1134His) | |
| 22 | g.50721255C= | CA2411008123 | SHANK3 | c.3023C= (p.Pro1008=) n.3607C= c.2075C= (p.Pro692=) c.1565C= (p.Pro522=) c.*2021C= (n.*2021C=) c.3419C= (p.Pro1140=) c.3401C= (p.Pro1134=) | |
| 22 | g.50721255C>G | CA515261576 | SHANK3 | c.3023C>G (p.Pro1008Arg) n.3607C>G c.2075C>G (p.Pro692Arg) c.1565C>G (p.Pro522Arg) c.*2021C>G (n.*2021C>G) c.3419C>G (p.Pro1140Arg) c.3401C>G (p.Pro1134Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721255C>T | CA515261577 | SHANK3 | c.3023C>T (p.Pro1008Leu) n.3607C>T c.2075C>T (p.Pro692Leu) c.1565C>T (p.Pro522Leu) c.*2021C>T (n.*2021C>T) c.3419C>T (p.Pro1140Leu) c.3401C>T (p.Pro1134Leu) | dbSNP gnomAD v4 |
| 22 | g.50721256C>A | CA515261578 | SHANK3 | c.3024C>A (p.Pro1008=) n.3608C>A c.2076C>A (p.Pro692=) c.1566C>A (p.Pro522=) c.*2022C>A (n.*2022C>A) c.3420C>A (p.Pro1140=) c.3402C>A (p.Pro1134=) | |
| 22 | g.50721256C= | CA2411008125 | SHANK3 | c.3024C= (p.Pro1008=) n.3608C= c.2076C= (p.Pro692=) c.1566C= (p.Pro522=) c.*2022C= (n.*2022C=) c.3420C= (p.Pro1140=) c.3402C= (p.Pro1134=) | |
| 22 | g.50721256C>G | CA515261579 | SHANK3 | c.3024C>G (p.Pro1008=) n.3608C>G c.2076C>G (p.Pro692=) c.1566C>G (p.Pro522=) c.*2022C>G (n.*2022C>G) c.3420C>G (p.Pro1140=) c.3402C>G (p.Pro1134=) | dbSNP gnomAD v4 |
| 22 | g.50721256C>T | CA515261580 | SHANK3 | c.3024C>T (p.Pro1008=) n.3608C>T c.2076C>T (p.Pro692=) c.1566C>T (p.Pro522=) c.*2022C>T (n.*2022C>T) c.3420C>T (p.Pro1140=) c.3402C>T (p.Pro1134=) | ClinVar gnomAD v4 |
| 22 | g.50721256_50721258delinsCCT | CA2411008124 | SHANK3 | c.3024_3026delinsCCT (p.Pro1008=) n.3608_3610delinsCCT c.2076_2078delinsCCT (p.Pro692=) c.1566_1568delinsCCT (p.Pro522=) c.*2022_*2024delinsCCT (n.*2022_*2024delinsCCT) c.3420_3422delinsCCT (p.Pro1140=) c.3402_3404delinsCCT (p.Pro1134=) | |
| 22 | g.50721257C>A | CA515261583 | SHANK3 | c.3025C>A (p.Leu1009Met) n.3609C>A c.2077C>A (p.Leu693Met) c.1567C>A (p.Leu523Met) c.*2023C>A (n.*2023C>A) c.3421C>A (p.Leu1141Met) c.3403C>A (p.Leu1135Met) | |
| 22 | g.50721257C= | CA2411008126 | SHANK3 | c.3025C= (p.Leu1009=) n.3609C= c.2077C= (p.Leu693=) c.1567C= (p.Leu523=) c.*2023C= (n.*2023C=) c.3421C= (p.Leu1141=) c.3403C= (p.Leu1135=) | |
| 22 | g.50721257C>G | CA515261582 | SHANK3 | c.3025C>G (p.Leu1009Val) n.3609C>G c.2077C>G (p.Leu693Val) c.1567C>G (p.Leu523Val) c.*2023C>G (n.*2023C>G) c.3421C>G (p.Leu1141Val) c.3403C>G (p.Leu1135Val) | |
| 22 | g.50721257C>T | CA515261581 | SHANK3 | c.3025C>T (p.Leu1009=) n.3609C>T c.2077C>T (p.Leu693=) c.1567C>T (p.Leu523=) c.*2023C>T (n.*2023C>T) c.3421C>T (p.Leu1141=) c.3403C>T (p.Leu1135=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721257_50721258del | CA16043254 | SHANK3 | c.3025_3026del (p.Leu1009ValfsTer?) n.3609_3610del c.2077_2078del (p.Leu693ValfsTer?) c.1567_1568del (p.Leu523ValfsTer?) c.*2023_*2024del (n.*2023_*2024del) c.3421_3422del (p.Leu1141ValfsTer?) c.3403_3404del (p.Leu1135ValfsTer?) | ClinVar dbSNP |
| 22 | g.50721258T>A | CA515261584 | SHANK3 | c.3026T>A (p.Leu1009Gln) n.3610T>A c.2078T>A (p.Leu693Gln) c.1568T>A (p.Leu523Gln) c.*2024T>A (n.*2024T>A) c.3422T>A (p.Leu1141Gln) c.3404T>A (p.Leu1135Gln) | |
| 22 | g.50721258T>C | CA515261585 | SHANK3 | c.3026T>C (p.Leu1009Pro) n.3610T>C c.2078T>C (p.Leu693Pro) c.1568T>C (p.Leu523Pro) c.*2024T>C (n.*2024T>C) c.3422T>C (p.Leu1141Pro) c.3404T>C (p.Leu1135Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 22 | g.50721258T>G | CA10326027 | SHANK3 | c.3026T>G (p.Leu1009Arg) n.3610T>G c.2078T>G (p.Leu693Arg) c.1568T>G (p.Leu523Arg) c.*2024T>G (n.*2024T>G) c.3422T>G (p.Leu1141Arg) c.3404T>G (p.Leu1135Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721258T= | CA2411008127 | SHANK3 | c.3026T= (p.Leu1009=) n.3610T= c.2078T= (p.Leu693=) c.1568T= (p.Leu523=) c.*2024T= (n.*2024T=) c.3422T= (p.Leu1141=) c.3404T= (p.Leu1135=) | |
| 22 | g.50721259G>A | CA10326028 | SHANK3 | c.3027G>A (p.Leu1009=) n.3611G>A c.2079G>A (p.Leu693=) c.1569G>A (p.Leu523=) c.*2025G>A (n.*2025G>A) c.3423G>A (p.Leu1141=) c.3405G>A (p.Leu1135=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721259G>C | CA515261586 | SHANK3 | c.3027G>C (p.Leu1009=) n.3611G>C c.2079G>C (p.Leu693=) c.1569G>C (p.Leu523=) c.*2025G>C (n.*2025G>C) c.3423G>C (p.Leu1141=) c.3405G>C (p.Leu1135=) | |
| 22 | g.50721259G= | CA2411008128 | SHANK3 | c.3027G= (p.Leu1009=) n.3611G= c.2079G= (p.Leu693=) c.1569G= (p.Leu523=) c.*2025G= (n.*2025G=) c.3423G= (p.Leu1141=) c.3405G= (p.Leu1135=) | |
| 22 | g.50721259G>T | CA515261587 | SHANK3 | c.3027G>T (p.Leu1009=) n.3611G>T c.2079G>T (p.Leu693=) c.1569G>T (p.Leu523=) c.*2025G>T (n.*2025G>T) c.3423G>T (p.Leu1141=) c.3405G>T (p.Leu1135=) | |
| 22 | g.50721260T>A | CA515261588 | SHANK3 | c.3028T>A (p.Phe1010Ile) n.3612T>A c.2080T>A (p.Phe694Ile) c.1570T>A (p.Phe524Ile) c.*2026T>A (n.*2026T>A) c.3424T>A (p.Phe1142Ile) c.3406T>A (p.Phe1136Ile) | |
| 22 | g.50721260T>C | CA10326029 | SHANK3 | c.3028T>C (p.Phe1010Leu) n.3612T>C c.2080T>C (p.Phe694Leu) c.1570T>C (p.Phe524Leu) c.*2026T>C (n.*2026T>C) c.3424T>C (p.Phe1142Leu) c.3406T>C (p.Phe1136Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721260T>G | CA515261589 | SHANK3 | c.3028T>G (p.Phe1010Val) n.3612T>G c.2080T>G (p.Phe694Val) c.1570T>G (p.Phe524Val) c.*2026T>G (n.*2026T>G) c.3424T>G (p.Phe1142Val) c.3406T>G (p.Phe1136Val) | |
| 22 | g.50721260T= | CA2411008129 | SHANK3 | c.3028T= (p.Phe1010=) n.3612T= c.2080T= (p.Phe694=) c.1570T= (p.Phe524=) c.*2026T= (n.*2026T=) c.3424T= (p.Phe1142=) c.3406T= (p.Phe1136=) | |
| 22 | g.50721261T>A | CA515261590 | SHANK3 | c.3029T>A (p.Phe1010Tyr) n.3613T>A c.2081T>A (p.Phe694Tyr) c.1571T>A (p.Phe524Tyr) c.*2027T>A (n.*2027T>A) c.3425T>A (p.Phe1142Tyr) c.3407T>A (p.Phe1136Tyr) | |
| 22 | g.50721261T>C | CA515261591 | SHANK3 | c.3029T>C (p.Phe1010Ser) n.3613T>C c.2081T>C (p.Phe694Ser) c.1571T>C (p.Phe524Ser) c.*2027T>C (n.*2027T>C) c.3425T>C (p.Phe1142Ser) c.3407T>C (p.Phe1136Ser) | |
| 22 | g.50721261T>G | CA515261592 | SHANK3 | c.3029T>G (p.Phe1010Cys) n.3613T>G c.2081T>G (p.Phe694Cys) c.1571T>G (p.Phe524Cys) c.*2027T>G (n.*2027T>G) c.3425T>G (p.Phe1142Cys) c.3407T>G (p.Phe1136Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721261T= | CA2411008130 | SHANK3 | c.3029T= (p.Phe1010=) n.3613T= c.2081T= (p.Phe694=) c.1571T= (p.Phe524=) c.*2027T= (n.*2027T=) c.3425T= (p.Phe1142=) c.3407T= (p.Phe1136=) | |
| 22 | g.50721262T>A | CA515261595 | SHANK3 | c.3030T>A (p.Phe1010Leu) n.3614T>A c.2082T>A (p.Phe694Leu) c.1572T>A (p.Phe524Leu) c.*2028T>A (n.*2028T>A) c.3426T>A (p.Phe1142Leu) c.3408T>A (p.Phe1136Leu) | |
| 22 | g.50721262T>C | CA515261594 | SHANK3 | c.3030T>C (p.Phe1010=) n.3614T>C c.2082T>C (p.Phe694=) c.1572T>C (p.Phe524=) c.*2028T>C (n.*2028T>C) c.3426T>C (p.Phe1142=) c.3408T>C (p.Phe1136=) | COSMIC COSMIC |
| 22 | g.50721262T>G | CA515261593 | SHANK3 | c.3030T>G (p.Phe1010Leu) n.3614T>G c.2082T>G (p.Phe694Leu) c.1572T>G (p.Phe524Leu) c.*2028T>G (n.*2028T>G) c.3426T>G (p.Phe1142Leu) c.3408T>G (p.Phe1136Leu) | |
| 22 | g.50721263G>A | CA515261596 | SHANK3 | c.3031G>A (p.Val1011Met) n.3615G>A c.2083G>A (p.Val695Met) c.1573G>A (p.Val525Met) c.*2029G>A (n.*2029G>A) c.3427G>A (p.Val1143Met) c.3409G>A (p.Val1137Met) | |
| 22 | g.50721263G>C | CA515261598 | SHANK3 | c.3031G>C (p.Val1011Leu) n.3615G>C c.2083G>C (p.Val695Leu) c.1573G>C (p.Val525Leu) c.*2029G>C (n.*2029G>C) c.3427G>C (p.Val1143Leu) c.3409G>C (p.Val1137Leu) | |
| 22 | g.50721263G>T | CA515261597 | SHANK3 | c.3031G>T (p.Val1011Leu) n.3615G>T c.2083G>T (p.Val695Leu) c.1573G>T (p.Val525Leu) c.*2029G>T (n.*2029G>T) c.3427G>T (p.Val1143Leu) c.3409G>T (p.Val1137Leu) | |
| 22 | g.50721264T>A | CA515261599 | SHANK3 | c.3032T>A (p.Val1011Glu) n.3616T>A c.2084T>A (p.Val695Glu) c.1574T>A (p.Val525Glu) c.*2030T>A (n.*2030T>A) c.3428T>A (p.Val1143Glu) c.3410T>A (p.Val1137Glu) | |
| 22 | g.50721264T>C | CA515261600 | SHANK3 | c.3032T>C (p.Val1011Ala) n.3616T>C c.2084T>C (p.Val695Ala) c.1574T>C (p.Val525Ala) c.*2030T>C (n.*2030T>C) c.3428T>C (p.Val1143Ala) c.3410T>C (p.Val1137Ala) | ClinVar gnomAD v4 |
| 22 | g.50721264T>G | CA325578888 | SHANK3 | c.3032T>G (p.Val1011Gly) n.3616T>G c.2084T>G (p.Val695Gly) c.1574T>G (p.Val525Gly) c.*2030T>G (n.*2030T>G) c.3428T>G (p.Val1143Gly) c.3410T>G (p.Val1137Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721264T= | CA2411008131 | SHANK3 | c.3032T= (p.Val1011=) n.3616T= c.2084T= (p.Val695=) c.1574T= (p.Val525=) c.*2030T= (n.*2030T=) c.3428T= (p.Val1143=) c.3410T= (p.Val1137=) | |
| 22 | g.50721265G>A | CA515261601 | SHANK3 | c.3033G>A (p.Val1011=) n.3617G>A c.2085G>A (p.Val695=) c.1575G>A (p.Val525=) c.*2031G>A (n.*2031G>A) c.3429G>A (p.Val1143=) c.3411G>A (p.Val1137=) | |
| 22 | g.50721265G>C | CA515261602 | SHANK3 | c.3033G>C (p.Val1011=) n.3617G>C c.2085G>C (p.Val695=) c.1575G>C (p.Val525=) c.*2031G>C (n.*2031G>C) c.3429G>C (p.Val1143=) c.3411G>C (p.Val1137=) | |
| 22 | g.50721265G>T | CA515261603 | SHANK3 | c.3033G>T (p.Val1011=) n.3617G>T c.2085G>T (p.Val695=) c.1575G>T (p.Val525=) c.*2031G>T (n.*2031G>T) c.3429G>T (p.Val1143=) c.3411G>T (p.Val1137=) | |
| 22 | g.50721266G>A | CA10326030 | SHANK3 | c.3034G>A (p.Asp1012Asn) n.3618G>A c.2086G>A (p.Asp696Asn) c.1576G>A (p.Asp526Asn) c.*2032G>A (n.*2032G>A) c.3430G>A (p.Asp1144Asn) c.3412G>A (p.Asp1138Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721266G>C | CA325578910 | SHANK3 | c.3034G>C (p.Asp1012His) n.3618G>C c.2086G>C (p.Asp696His) c.1576G>C (p.Asp526His) c.*2032G>C (n.*2032G>C) c.3430G>C (p.Asp1144His) c.3412G>C (p.Asp1138His) | dbSNP |
| 22 | g.50721266G= | CA2411008132 | SHANK3 | c.3034G= (p.Asp1012=) n.3618G= c.2086G= (p.Asp696=) c.1576G= (p.Asp526=) c.*2032G= (n.*2032G=) c.3430G= (p.Asp1144=) c.3412G= (p.Asp1138=) | |
| 22 | g.50721266G>T | CA515261604 | SHANK3 | c.3034G>T (p.Asp1012Tyr) n.3618G>T c.2086G>T (p.Asp696Tyr) c.1576G>T (p.Asp526Tyr) c.*2032G>T (n.*2032G>T) c.3430G>T (p.Asp1144Tyr) c.3412G>T (p.Asp1138Tyr) | |
| 22 | g.50721267A>C | CA515261605 | SHANK3 | c.3035A>C (p.Asp1012Ala) n.3619A>C c.2087A>C (p.Asp696Ala) c.1577A>C (p.Asp526Ala) c.*2033A>C (n.*2033A>C) c.3431A>C (p.Asp1144Ala) c.3413A>C (p.Asp1138Ala) | |
| 22 | g.50721267A>G | CA515261606 | SHANK3 | c.3035A>G (p.Asp1012Gly) n.3619A>G c.2087A>G (p.Asp696Gly) c.1577A>G (p.Asp526Gly) c.*2033A>G (n.*2033A>G) c.3431A>G (p.Asp1144Gly) c.3413A>G (p.Asp1138Gly) | |
| 22 | g.50721267A>T | CA515261607 | SHANK3 | c.3035A>T (p.Asp1012Val) n.3619A>T c.2087A>T (p.Asp696Val) c.1577A>T (p.Asp526Val) c.*2033A>T (n.*2033A>T) c.3431A>T (p.Asp1144Val) c.3413A>T (p.Asp1138Val) | |
| 22 | g.50721268T>A | CA515261608 | SHANK3 | c.3036T>A (p.Asp1012Glu) n.3620T>A c.2088T>A (p.Asp696Glu) c.1578T>A (p.Asp526Glu) c.*2034T>A (n.*2034T>A) c.3432T>A (p.Asp1144Glu) c.3414T>A (p.Asp1138Glu) | |
| 22 | g.50721268T>C | CA515261609 | SHANK3 | c.3036T>C (p.Asp1012=) n.3620T>C c.2088T>C (p.Asp696=) c.1578T>C (p.Asp526=) c.*2034T>C (n.*2034T>C) c.3432T>C (p.Asp1144=) c.3414T>C (p.Asp1138=) | COSMIC COSMIC |
| 22 | g.50721268T>G | CA515261610 | SHANK3 | c.3036T>G (p.Asp1012Glu) n.3620T>G c.2088T>G (p.Asp696Glu) c.1578T>G (p.Asp526Glu) c.*2034T>G (n.*2034T>G) c.3432T>G (p.Asp1144Glu) c.3414T>G (p.Asp1138Glu) | dbSNP |
| 22 | g.50721268T= | CA2411008133 | SHANK3 | c.3036T= (p.Asp1012=) n.3620T= c.2088T= (p.Asp696=) c.1578T= (p.Asp526=) c.*2034T= (n.*2034T=) c.3432T= (p.Asp1144=) c.3414T= (p.Asp1138=) | |
| 22 | g.50721269G>A | CA515261611 | SHANK3 | c.3037G>A (p.Val1013Ile) n.3621G>A c.2089G>A (p.Val697Ile) c.1579G>A (p.Val527Ile) c.*2035G>A (n.*2035G>A) c.3433G>A (p.Val1145Ile) c.3415G>A (p.Val1139Ile) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50721269G>C | CA515261613 | SHANK3 | c.3037G>C (p.Val1013Leu) n.3621G>C c.2089G>C (p.Val697Leu) c.1579G>C (p.Val527Leu) c.*2035G>C (n.*2035G>C) c.3433G>C (p.Val1145Leu) c.3415G>C (p.Val1139Leu) | |
| 22 | g.50721269G>T | CA515261612 | SHANK3 | c.3037G>T (p.Val1013Leu) n.3621G>T c.2089G>T (p.Val697Leu) c.1579G>T (p.Val527Leu) c.*2035G>T (n.*2035G>T) c.3433G>T (p.Val1145Leu) c.3415G>T (p.Val1139Leu) | gnomAD v4 |
| 22 | g.50721270T>A | CA515261614 | SHANK3 | c.3038T>A (p.Val1013Glu) n.3622T>A c.2090T>A (p.Val697Glu) c.1580T>A (p.Val527Glu) c.*2036T>A (n.*2036T>A) c.3434T>A (p.Val1145Glu) c.3416T>A (p.Val1139Glu) | |
| 22 | g.50721270T>C | CA515261615 | SHANK3 | c.3038T>C (p.Val1013Ala) n.3622T>C c.2090T>C (p.Val697Ala) c.1580T>C (p.Val527Ala) c.*2036T>C (n.*2036T>C) c.3434T>C (p.Val1145Ala) c.3416T>C (p.Val1139Ala) | gnomAD v4 |
| 22 | g.50721270T>G | CA515261616 | SHANK3 | c.3038T>G (p.Val1013Gly) n.3622T>G c.2090T>G (p.Val697Gly) c.1580T>G (p.Val527Gly) c.*2036T>G (n.*2036T>G) c.3434T>G (p.Val1145Gly) c.3416T>G (p.Val1139Gly) | |
| 22 | g.50721271A>C | CA515261617 | SHANK3 | c.3039A>C (p.Val1013=) n.3623A>C c.2091A>C (p.Val697=) c.1581A>C (p.Val527=) c.*2037A>C (n.*2037A>C) c.3435A>C (p.Val1145=) c.3417A>C (p.Val1139=) | |
| 22 | g.50721271A>G | CA515261618 | SHANK3 | c.3039A>G (p.Val1013=) n.3623A>G c.2091A>G (p.Val697=) c.1581A>G (p.Val527=) c.*2037A>G (n.*2037A>G) c.3435A>G (p.Val1145=) c.3417A>G (p.Val1139=) | gnomAD v4 |
| 22 | g.50721271A>T | CA515261619 | SHANK3 | c.3039A>T (p.Val1013=) n.3623A>T c.2091A>T (p.Val697=) c.1581A>T (p.Val527=) c.*2037A>T (n.*2037A>T) c.3435A>T (p.Val1145=) c.3417A>T (p.Val1139=) | |
| 22 | g.50721272C>A | CA515261620 | SHANK3 | c.3040C>A (p.Gln1014Lys) n.3624C>A c.2092C>A (p.Gln698Lys) c.1582C>A (p.Gln528Lys) c.*2038C>A (n.*2038C>A) c.3436C>A (p.Gln1146Lys) c.3418C>A (p.Gln1140Lys) | |
| 22 | g.50721272C= | CA2411008134 | SHANK3 | c.3040C= (p.Gln1014=) n.3624C= c.2092C= (p.Gln698=) c.1582C= (p.Gln528=) c.*2038C= (n.*2038C=) c.3436C= (p.Gln1146=) c.3418C= (p.Gln1140=) | |
| 22 | g.50721272C>G | CA10326031 | SHANK3 | c.3040C>G (p.Gln1014Glu) n.3624C>G c.2092C>G (p.Gln698Glu) c.1582C>G (p.Gln528Glu) c.*2038C>G (n.*2038C>G) c.3436C>G (p.Gln1146Glu) c.3418C>G (p.Gln1140Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721272C>T | CA515261621 | SHANK3 | c.3040C>T (p.Gln1014Ter) n.3624C>T c.2092C>T (p.Gln698Ter) c.1582C>T (p.Gln528Ter) c.*2038C>T (n.*2038C>T) c.3436C>T (p.Gln1146Ter) c.3418C>T (p.Gln1140Ter) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50721273A= | CA2411008135 | SHANK3 | c.3041A= (p.Gln1014=) n.3625A= c.2093A= (p.Gln698=) c.1583A= (p.Gln528=) c.*2039A= (n.*2039A=) c.3437A= (p.Gln1146=) c.3419A= (p.Gln1140=) | |
| 22 | g.50721273A>C | CA515261624 | SHANK3 | c.3041A>C (p.Gln1014Pro) n.3625A>C c.2093A>C (p.Gln698Pro) c.1583A>C (p.Gln528Pro) c.*2039A>C (n.*2039A>C) c.3437A>C (p.Gln1146Pro) c.3419A>C (p.Gln1140Pro) | |
| 22 | g.50721273A>G | CA515261623 | SHANK3 | c.3041A>G (p.Gln1014Arg) n.3625A>G c.2093A>G (p.Gln698Arg) c.1583A>G (p.Gln528Arg) c.*2039A>G (n.*2039A>G) c.3437A>G (p.Gln1146Arg) c.3419A>G (p.Gln1140Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721273A>T | CA515261622 | SHANK3 | c.3041A>T (p.Gln1014Leu) n.3625A>T c.2093A>T (p.Gln698Leu) c.1583A>T (p.Gln528Leu) c.*2039A>T (n.*2039A>T) c.3437A>T (p.Gln1146Leu) c.3419A>T (p.Gln1140Leu) | |
| 22 | g.50721274G>A | CA515261625 | SHANK3 | c.3042G>A (p.Gln1014=) n.3626G>A c.2094G>A (p.Gln698=) c.1584G>A (p.Gln528=) c.*2040G>A (n.*2040G>A) c.3438G>A (p.Gln1146=) c.3420G>A (p.Gln1140=) | gnomAD v4 |
| 22 | g.50721274G>C | CA515261626 | SHANK3 | c.3042G>C (p.Gln1014His) n.3626G>C c.2094G>C (p.Gln698His) c.1584G>C (p.Gln528His) c.*2040G>C (n.*2040G>C) c.3438G>C (p.Gln1146His) c.3420G>C (p.Gln1140His) | |
| 22 | g.50721274G>T | CA515261627 | SHANK3 | c.3042G>T (p.Gln1014His) n.3626G>T c.2094G>T (p.Gln698His) c.1584G>T (p.Gln528His) c.*2040G>T (n.*2040G>T) c.3438G>T (p.Gln1146His) c.3420G>T (p.Gln1140His) | |
| 22 | g.50721275G>A | CA515261628 | SHANK3 | c.3043G>A (p.Ala1015Thr) n.3627G>A c.2095G>A (p.Ala699Thr) c.1585G>A (p.Ala529Thr) c.*2041G>A (n.*2041G>A) c.3439G>A (p.Ala1147Thr) c.3421G>A (p.Ala1141Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721275G>C | CA515261629 | SHANK3 | c.3043G>C (p.Ala1015Pro) n.3627G>C c.2095G>C (p.Ala699Pro) c.1585G>C (p.Ala529Pro) c.*2041G>C (n.*2041G>C) c.3439G>C (p.Ala1147Pro) c.3421G>C (p.Ala1141Pro) | |
| 22 | g.50721275G= | CA2411008136 | SHANK3 | c.3043G= (p.Ala1015=) n.3627G= c.2095G= (p.Ala699=) c.1585G= (p.Ala529=) c.*2041G= (n.*2041G=) c.3439G= (p.Ala1147=) c.3421G= (p.Ala1141=) | |
| 22 | g.50721275G>T | CA515261630 | SHANK3 | c.3043G>T (p.Ala1015Ser) n.3627G>T c.2095G>T (p.Ala699Ser) c.1585G>T (p.Ala529Ser) c.*2041G>T (n.*2041G>T) c.3439G>T (p.Ala1147Ser) c.3421G>T (p.Ala1141Ser) | |
| 22 | g.50721276C>A | CA515261631 | SHANK3 | c.3044C>A (p.Ala1015Asp) n.3628C>A c.2096C>A (p.Ala699Asp) c.1586C>A (p.Ala529Asp) c.*2042C>A (n.*2042C>A) c.3440C>A (p.Ala1147Asp) c.3422C>A (p.Ala1141Asp) | gnomAD v4 |
| 22 | g.50721276C= | CA2411008137 | SHANK3 | c.3044C= (p.Ala1015=) n.3628C= c.2096C= (p.Ala699=) c.1586C= (p.Ala529=) c.*2042C= (n.*2042C=) c.3440C= (p.Ala1147=) c.3422C= (p.Ala1141=) | |
| 22 | g.50721276C>G | CA515261632 | SHANK3 | c.3044C>G (p.Ala1015Gly) n.3628C>G c.2096C>G (p.Ala699Gly) c.1586C>G (p.Ala529Gly) c.*2042C>G (n.*2042C>G) c.3440C>G (p.Ala1147Gly) c.3422C>G (p.Ala1141Gly) | gnomAD v4 |
| 22 | g.50721276C>T | CA10326032 | SHANK3 | c.3044C>T (p.Ala1015Val) n.3628C>T c.2096C>T (p.Ala699Val) c.1586C>T (p.Ala529Val) c.*2042C>T (n.*2042C>T) c.3440C>T (p.Ala1147Val) c.3422C>T (p.Ala1141Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721277C>A | CA515261633 | SHANK3 | c.3045C>A (p.Ala1015=) n.3629C>A c.2097C>A (p.Ala699=) c.1587C>A (p.Ala529=) c.*2043C>A (n.*2043C>A) c.3441C>A (p.Ala1147=) c.3423C>A (p.Ala1141=) | |
| 22 | g.50721277C= | CA2411008138 | SHANK3 | c.3045C= (p.Ala1015=) n.3629C= c.2097C= (p.Ala699=) c.1587C= (p.Ala529=) c.*2043C= (n.*2043C=) c.3441C= (p.Ala1147=) c.3423C= (p.Ala1141=) | |
| 22 | g.50721277C>G | CA515261634 | SHANK3 | c.3045C>G (p.Ala1015=) n.3629C>G c.2097C>G (p.Ala699=) c.1587C>G (p.Ala529=) c.*2043C>G (n.*2043C>G) c.3441C>G (p.Ala1147=) c.3423C>G (p.Ala1141=) | |
| 22 | g.50721277C>T | CA10326033 | SHANK3 | c.3045C>T (p.Ala1015=) n.3629C>T c.2097C>T (p.Ala699=) c.1587C>T (p.Ala529=) c.*2043C>T (n.*2043C>T) c.3441C>T (p.Ala1147=) c.3423C>T (p.Ala1141=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721278C>A | CA515261637 | SHANK3 | c.3046C>A (p.Arg1016=) n.3630C>A c.2098C>A (p.Arg700=) c.1588C>A (p.Arg530=) c.*2044C>A (n.*2044C>A) c.3442C>A (p.Arg1148=) c.3424C>A (p.Arg1142=) | |
| 22 | g.50721278C>G | CA515261635 | SHANK3 | c.3046C>G (p.Arg1016Gly) n.3630C>G c.2098C>G (p.Arg700Gly) c.1588C>G (p.Arg530Gly) c.*2044C>G (n.*2044C>G) c.3442C>G (p.Arg1148Gly) c.3424C>G (p.Arg1142Gly) | gnomAD v4 |
| 22 | g.50721278C>T | CA515261636 | SHANK3 | c.3046C>T (p.Arg1016Trp) n.3630C>T c.2098C>T (p.Arg700Trp) c.1588C>T (p.Arg530Trp) c.*2044C>T (n.*2044C>T) c.3442C>T (p.Arg1148Trp) c.3424C>T (p.Arg1142Trp) | gnomAD v4 |
| 22 | g.50721279G>A | CA515261639 | SHANK3 | c.3047G>A (p.Arg1016Gln) n.3631G>A c.2099G>A (p.Arg700Gln) c.1589G>A (p.Arg530Gln) c.*2045G>A (n.*2045G>A) c.3443G>A (p.Arg1148Gln) c.3425G>A (p.Arg1142Gln) | gnomAD v4 |
| 22 | g.50721279G>C | CA515261640 | SHANK3 | c.3047G>C (p.Arg1016Pro) n.3631G>C c.2099G>C (p.Arg700Pro) c.1589G>C (p.Arg530Pro) c.*2045G>C (n.*2045G>C) c.3443G>C (p.Arg1148Pro) c.3425G>C (p.Arg1142Pro) | |
| 22 | g.50721279G>T | CA515261641 | SHANK3 | c.3047G>T (p.Arg1016Leu) n.3631G>T c.2099G>T (p.Arg700Leu) c.1589G>T (p.Arg530Leu) c.*2045G>T (n.*2045G>T) c.3443G>T (p.Arg1148Leu) c.3425G>T (p.Arg1142Leu) | gnomAD v4 |
| 22 | g.50721280G>A | CA515261642 | SHANK3 | c.3048G>A (p.Arg1016=) n.3632G>A c.2100G>A (p.Arg700=) c.1590G>A (p.Arg530=) c.*2046G>A (n.*2046G>A) c.3444G>A (p.Arg1148=) c.3426G>A (p.Arg1142=) | |
| 22 | g.50721280G>C | CA515261643 | SHANK3 | c.3048G>C (p.Arg1016=) n.3632G>C c.2100G>C (p.Arg700=) c.1590G>C (p.Arg530=) c.*2046G>C (n.*2046G>C) c.3444G>C (p.Arg1148=) c.3426G>C (p.Arg1142=) | |
| 22 | g.50721280G>T | CA515261645 | SHANK3 | c.3048G>T (p.Arg1016=) n.3632G>T c.2100G>T (p.Arg700=) c.1590G>T (p.Arg530=) c.*2046G>T (n.*2046G>T) c.3444G>T (p.Arg1148=) c.3426G>T (p.Arg1142=) | |
| 22 | g.50721281G>A | CA515261647 | SHANK3 | c.3049G>A (p.Asp1017Asn) n.3633G>A c.2101G>A (p.Asp701Asn) c.1591G>A (p.Asp531Asn) c.*2047G>A (n.*2047G>A) c.3445G>A (p.Asp1149Asn) c.3427G>A (p.Asp1143Asn) | dbSNP gnomAD v2 |
| 22 | g.50721281G>C | CA515261649 | SHANK3 | c.3049G>C (p.Asp1017His) n.3633G>C c.2101G>C (p.Asp701His) c.1591G>C (p.Asp531His) c.*2047G>C (n.*2047G>C) c.3445G>C (p.Asp1149His) c.3427G>C (p.Asp1143His) | |
| 22 | g.50721281G= | CA2411008139 | SHANK3 | c.3049G= (p.Asp1017=) n.3633G= c.2101G= (p.Asp701=) c.1591G= (p.Asp531=) c.*2047G= (n.*2047G=) c.3445G= (p.Asp1149=) c.3427G= (p.Asp1143=) | |
| 22 | g.50721281G>T | CA515261650 | SHANK3 | c.3049G>T (p.Asp1017Tyr) n.3633G>T c.2101G>T (p.Asp701Tyr) c.1591G>T (p.Asp531Tyr) c.*2047G>T (n.*2047G>T) c.3445G>T (p.Asp1149Tyr) c.3427G>T (p.Asp1143Tyr) | |
| 22 | g.50721282A>C | CA515261651 | SHANK3 | c.3050A>C (p.Asp1017Ala) n.3634A>C c.2102A>C (p.Asp701Ala) c.1592A>C (p.Asp531Ala) c.*2048A>C (n.*2048A>C) c.3446A>C (p.Asp1149Ala) c.3428A>C (p.Asp1143Ala) | gnomAD v4 |
| 22 | g.50721282A>G | CA515261652 | SHANK3 | c.3050A>G (p.Asp1017Gly) n.3634A>G c.2102A>G (p.Asp701Gly) c.1592A>G (p.Asp531Gly) c.*2048A>G (n.*2048A>G) c.3446A>G (p.Asp1149Gly) c.3428A>G (p.Asp1143Gly) | |
| 22 | g.50721282A>T | CA515261653 | SHANK3 | c.3050A>T (p.Asp1017Val) n.3634A>T c.2102A>T (p.Asp701Val) c.1592A>T (p.Asp531Val) c.*2048A>T (n.*2048A>T) c.3446A>T (p.Asp1149Val) c.3428A>T (p.Asp1143Val) | |
| 22 | g.50721283C>A | CA515261655 | SHANK3 | c.3051C>A (p.Asp1017Glu) n.3635C>A c.2103C>A (p.Asp701Glu) c.1593C>A (p.Asp531Glu) c.*2049C>A (n.*2049C>A) c.3447C>A (p.Asp1149Glu) c.3429C>A (p.Asp1143Glu) | |
| 22 | g.50721283C= | CA2411008140 | SHANK3 | c.3051C= (p.Asp1017=) n.3635C= c.2103C= (p.Asp701=) c.1593C= (p.Asp531=) c.*2049C= (n.*2049C=) c.3447C= (p.Asp1149=) c.3429C= (p.Asp1143=) | |
| 22 | g.50721283C>G | CA515261656 | SHANK3 | c.3051C>G (p.Asp1017Glu) n.3635C>G c.2103C>G (p.Asp701Glu) c.1593C>G (p.Asp531Glu) c.*2049C>G (n.*2049C>G) c.3447C>G (p.Asp1149Glu) c.3429C>G (p.Asp1143Glu) | |
| 22 | g.50721283C>T | CA10326034 | SHANK3 | c.3051C>T (p.Asp1017=) n.3635C>T c.2103C>T (p.Asp701=) c.1593C>T (p.Asp531=) c.*2049C>T (n.*2049C>T) c.3447C>T (p.Asp1149=) c.3429C>T (p.Asp1143=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721284C>A | CA515261657 | SHANK3 | c.3052C>A (p.Pro1018Thr) n.3636C>A c.2104C>A (p.Pro702Thr) c.1594C>A (p.Pro532Thr) c.*2050C>A (n.*2050C>A) c.3448C>A (p.Pro1150Thr) c.3430C>A (p.Pro1144Thr) | gnomAD v4 |
| 22 | g.50721284C= | CA2411008141 | SHANK3 | c.3052C= (p.Pro1018=) n.3636C= c.2104C= (p.Pro702=) c.1594C= (p.Pro532=) c.*2050C= (n.*2050C=) c.3448C= (p.Pro1150=) c.3430C= (p.Pro1144=) | |
| 22 | g.50721284C>G | CA10326036 | SHANK3 | c.3052C>G (p.Pro1018Ala) n.3636C>G c.2104C>G (p.Pro702Ala) c.1594C>G (p.Pro532Ala) c.*2050C>G (n.*2050C>G) c.3448C>G (p.Pro1150Ala) c.3430C>G (p.Pro1144Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721284C>T | CA10326035 | SHANK3 | c.3052C>T (p.Pro1018Ser) n.3636C>T c.2104C>T (p.Pro702Ser) c.1594C>T (p.Pro532Ser) c.*2050C>T (n.*2050C>T) c.3448C>T (p.Pro1150Ser) c.3430C>T (p.Pro1144Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721285C>A | CA515261660 | SHANK3 | c.3053C>A (p.Pro1018Gln) n.3637C>A c.2105C>A (p.Pro702Gln) c.1595C>A (p.Pro532Gln) c.*2051C>A (n.*2051C>A) c.3449C>A (p.Pro1150Gln) c.3431C>A (p.Pro1144Gln) | |
| 22 | g.50721285C= | CA2411008142 | SHANK3 | c.3053C= (p.Pro1018=) n.3637C= c.2105C= (p.Pro702=) c.1595C= (p.Pro532=) c.*2051C= (n.*2051C=) c.3449C= (p.Pro1150=) c.3431C= (p.Pro1144=) | |
| 22 | g.50721285C>G | CA515261661 | SHANK3 | c.3053C>G (p.Pro1018Arg) n.3637C>G c.2105C>G (p.Pro702Arg) c.1595C>G (p.Pro532Arg) c.*2051C>G (n.*2051C>G) c.3449C>G (p.Pro1150Arg) c.3431C>G (p.Pro1144Arg) | |
| 22 | g.50721285C>T | CA515261663 | SHANK3 | c.3053C>T (p.Pro1018Leu) n.3637C>T c.2105C>T (p.Pro702Leu) c.1595C>T (p.Pro532Leu) c.*2051C>T (n.*2051C>T) c.3449C>T (p.Pro1150Leu) c.3431C>T (p.Pro1144Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721286A= | CA2411008143 | SHANK3 | c.3054A= (p.Pro1018=) n.3638A= c.2106A= (p.Pro702=) c.1596A= (p.Pro532=) c.*2052A= (n.*2052A=) c.3450A= (p.Pro1150=) c.3432A= (p.Pro1144=) | |
| 22 | g.50721286A>C | CA515261666 | SHANK3 | c.3054A>C (p.Pro1018=) n.3638A>C c.2106A>C (p.Pro702=) c.1596A>C (p.Pro532=) c.*2052A>C (n.*2052A>C) c.3450A>C (p.Pro1150=) c.3432A>C (p.Pro1144=) | |
| 22 | g.50721286A>G | CA515261664 | SHANK3 | c.3054A>G (p.Pro1018=) n.3638A>G c.2106A>G (p.Pro702=) c.1596A>G (p.Pro532=) c.*2052A>G (n.*2052A>G) c.3450A>G (p.Pro1150=) c.3432A>G (p.Pro1144=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721286A>T | CA515261665 | SHANK3 | c.3054A>T (p.Pro1018=) n.3638A>T c.2106A>T (p.Pro702=) c.1596A>T (p.Pro532=) c.*2052A>T (n.*2052A>T) c.3450A>T (p.Pro1150=) c.3432A>T (p.Pro1144=) | |
| 22 | g.50721287del | CA2579941915 | SHANK3 | c.3055del (p.Glu1019SerfsTer?) n.3639del c.2107del (p.Glu703SerfsTer?) c.1597del (p.Glu533SerfsTer?) c.*2053del (n.*2053del) c.3451del (p.Glu1151SerfsTer?) c.3433del (p.Glu1145SerfsTer?) | |
| 22 | g.50721287G>A | CA515261667 | SHANK3 | c.3055G>A (p.Glu1019Lys) n.3639G>A c.2107G>A (p.Glu703Lys) c.1597G>A (p.Glu533Lys) c.*2053G>A (n.*2053G>A) c.3451G>A (p.Glu1151Lys) c.3433G>A (p.Glu1145Lys) | |
| 22 | g.50721287G>C | CA515261676 | SHANK3 | c.3055G>C (p.Glu1019Gln) n.3639G>C c.2107G>C (p.Glu703Gln) c.1597G>C (p.Glu533Gln) c.*2053G>C (n.*2053G>C) c.3451G>C (p.Glu1151Gln) c.3433G>C (p.Glu1145Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721287G= | CA2411008144 | SHANK3 | c.3055G= (p.Glu1019=) n.3639G= c.2107G= (p.Glu703=) c.1597G= (p.Glu533=) c.*2053G= (n.*2053G=) c.3451G= (p.Glu1151=) c.3433G= (p.Glu1145=) | |
| 22 | g.50721287G>T | CA515261680 | SHANK3 | c.3055G>T (p.Glu1019Ter) n.3639G>T c.2107G>T (p.Glu703Ter) c.1597G>T (p.Glu533Ter) c.*2053G>T (n.*2053G>T) c.3451G>T (p.Glu1151Ter) c.3433G>T (p.Glu1145Ter) | |
| 22 | g.50721287dup | CA2580617639 | SHANK3 | c.3055dup (p.Glu1019GlyfsTer?) n.3639dup c.2107dup (p.Glu703GlyfsTer?) c.1597dup (p.Glu533GlyfsTer?) c.*2053dup (n.*2053dup) c.3451dup (p.Glu1151GlyfsTer?) c.3433dup (p.Glu1145GlyfsTer?) | ClinVar |
| 22 | g.50721288A>C | CA515261682 | SHANK3 | c.3056A>C (p.Glu1019Ala) n.3640A>C c.2108A>C (p.Glu703Ala) c.1598A>C (p.Glu533Ala) c.*2054A>C (n.*2054A>C) c.3452A>C (p.Glu1151Ala) c.3434A>C (p.Glu1145Ala) | |
| 22 | g.50721288A>G | CA515261683 | SHANK3 | c.3056A>G (p.Glu1019Gly) n.3640A>G c.2108A>G (p.Glu703Gly) c.1598A>G (p.Glu533Gly) c.*2054A>G (n.*2054A>G) c.3452A>G (p.Glu1151Gly) c.3434A>G (p.Glu1145Gly) | |
| 22 | g.50721288A>T | CA515261684 | SHANK3 | c.3056A>T (p.Glu1019Val) n.3640A>T c.2108A>T (p.Glu703Val) c.1598A>T (p.Glu533Val) c.*2054A>T (n.*2054A>T) c.3452A>T (p.Glu1151Val) c.3434A>T (p.Glu1145Val) | |
| 22 | g.50721289del | CA923726219 | SHANK3 | c.3057del (p.Glu1019AspfsTer?) n.3641del c.2109del (p.Glu703AspfsTer?) c.1599del (p.Glu533AspfsTer?) c.*2055del (n.*2055del) c.3453del (p.Glu1151AspfsTer?) c.3435del (p.Glu1145AspfsTer?) | |
| 22 | g.50721289G>A | CA10326037 | SHANK3 | c.3057G>A (p.Glu1019=) n.3641G>A c.2109G>A (p.Glu703=) c.1599G>A (p.Glu533=) c.*2055G>A (n.*2055G>A) c.3453G>A (p.Glu1151=) c.3435G>A (p.Glu1145=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721289G>C | CA325578949 | SHANK3 | c.3057G>C (p.Glu1019Asp) n.3641G>C c.2109G>C (p.Glu703Asp) c.1599G>C (p.Glu533Asp) c.*2055G>C (n.*2055G>C) c.3453G>C (p.Glu1151Asp) c.3435G>C (p.Glu1145Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721289G= | CA2411008145 | SHANK3 | c.3057G= (p.Glu1019=) n.3641G= c.2109G= (p.Glu703=) c.1599G= (p.Glu533=) c.*2055G= (n.*2055G=) c.3453G= (p.Glu1151=) c.3435G= (p.Glu1145=) | |
| 22 | g.50721289G>T | CA515261685 | SHANK3 | c.3057G>T (p.Glu1019Asp) n.3641G>T c.2109G>T (p.Glu703Asp) c.1599G>T (p.Glu533Asp) c.*2055G>T (n.*2055G>T) c.3453G>T (p.Glu1151Asp) c.3435G>T (p.Glu1145Asp) | dbSNP gnomAD v2 |
| 22 | g.50721290C>A | CA515261689 | SHANK3 | c.3058C>A (p.Arg1020=) n.3642C>A c.2110C>A (p.Arg704=) c.1600C>A (p.Arg534=) c.*2056C>A (n.*2056C>A) c.3454C>A (p.Arg1152=) c.3436C>A (p.Arg1146=) | |
| 22 | g.50721290C>G | CA515261690 | SHANK3 | c.3058C>G (p.Arg1020Gly) n.3642C>G c.2110C>G (p.Arg704Gly) c.1600C>G (p.Arg534Gly) c.*2056C>G (n.*2056C>G) c.3454C>G (p.Arg1152Gly) c.3436C>G (p.Arg1146Gly) | |
| 22 | g.50721290C>T | CA515261691 | SHANK3 | c.3058C>T (p.Arg1020Ter) n.3642C>T c.2110C>T (p.Arg704Ter) c.1600C>T (p.Arg534Ter) c.*2056C>T (n.*2056C>T) c.3454C>T (p.Arg1152Ter) c.3436C>T (p.Arg1146Ter) | |
| 22 | g.50721291G>A | CA325578954 | SHANK3 | c.3059G>A (p.Arg1020Gln) n.3643G>A c.2111G>A (p.Arg704Gln) c.1601G>A (p.Arg534Gln) c.*2057G>A (n.*2057G>A) c.3455G>A (p.Arg1152Gln) c.3437G>A (p.Arg1146Gln) | dbSNP |
| 22 | g.50721291G>C | CA515261692 | SHANK3 | c.3059G>C (p.Arg1020Pro) n.3643G>C c.2111G>C (p.Arg704Pro) c.1601G>C (p.Arg534Pro) c.*2057G>C (n.*2057G>C) c.3455G>C (p.Arg1152Pro) c.3437G>C (p.Arg1146Pro) | |
| 22 | g.50721291G= | CA2411008146 | SHANK3 | c.3059G= (p.Arg1020=) n.3643G= c.2111G= (p.Arg704=) c.1601G= (p.Arg534=) c.*2057G= (n.*2057G=) c.3455G= (p.Arg1152=) c.3437G= (p.Arg1146=) | |
| 22 | g.50721291G>T | CA515261693 | SHANK3 | c.3059G>T (p.Arg1020Leu) n.3643G>T c.2111G>T (p.Arg704Leu) c.1601G>T (p.Arg534Leu) c.*2057G>T (n.*2057G>T) c.3455G>T (p.Arg1152Leu) c.3437G>T (p.Arg1146Leu) | |
| 22 | g.50721292A= | CA2411008147 | SHANK3 | c.3060A= (p.Arg1020=) n.3644A= c.2112A= (p.Arg704=) c.1602A= (p.Arg534=) c.*2058A= (n.*2058A=) c.3456A= (p.Arg1152=) c.3438A= (p.Arg1146=) | |
| 22 | g.50721292A>C | CA515261694 | SHANK3 | c.3060A>C (p.Arg1020=) n.3644A>C c.2112A>C (p.Arg704=) c.1602A>C (p.Arg534=) c.*2058A>C (n.*2058A>C) c.3456A>C (p.Arg1152=) c.3438A>C (p.Arg1146=) | |
| 22 | g.50721292A>G | CA515261695 | SHANK3 | c.3060A>G (p.Arg1020=) n.3644A>G c.2112A>G (p.Arg704=) c.1602A>G (p.Arg534=) c.*2058A>G (n.*2058A>G) c.3456A>G (p.Arg1152=) c.3438A>G (p.Arg1146=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721292A>T | CA515261696 | SHANK3 | c.3060A>T (p.Arg1020=) n.3644A>T c.2112A>T (p.Arg704=) c.1602A>T (p.Arg534=) c.*2058A>T (n.*2058A>T) c.3456A>T (p.Arg1152=) c.3438A>T (p.Arg1146=) | |
| 22 | g.50721293G>A | CA10326038 | SHANK3 | c.3061G>A (p.Gly1021Arg) n.3645G>A c.2113G>A (p.Gly705Arg) c.1603G>A (p.Gly535Arg) c.*2059G>A (n.*2059G>A) c.3457G>A (p.Gly1153Arg) c.3439G>A (p.Gly1147Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721293G>C | CA515261699 | SHANK3 | c.3061G>C (p.Gly1021Arg) n.3645G>C c.2113G>C (p.Gly705Arg) c.1603G>C (p.Gly535Arg) c.*2059G>C (n.*2059G>C) c.3457G>C (p.Gly1153Arg) c.3439G>C (p.Gly1147Arg) | dbSNP gnomAD v4 |
| 22 | g.50721293G= | CA2411008148 | SHANK3 | c.3061G= (p.Gly1021=) n.3645G= c.2113G= (p.Gly705=) c.1603G= (p.Gly535=) c.*2059G= (n.*2059G=) c.3457G= (p.Gly1153=) c.3439G= (p.Gly1147=) | |
| 22 | g.50721293G>T | CA515261701 | SHANK3 | c.3061G>T (p.Gly1021Trp) n.3645G>T c.2113G>T (p.Gly705Trp) c.1603G>T (p.Gly535Trp) c.*2059G>T (n.*2059G>T) c.3457G>T (p.Gly1153Trp) c.3439G>T (p.Gly1147Trp) | |
| 22 | g.50721294_50721295del | CA2579941916 | SHANK3 | c.3062_3063del (p.Gly1021ValfsTer?) n.3646_3647del c.2114_2115del (p.Gly705ValfsTer?) c.1604_1605del (p.Gly535ValfsTer?) c.*2060_*2061del (n.*2060_*2061del) c.3458_3459del (p.Gly1153ValfsTer?) c.3440_3441del (p.Gly1147ValfsTer?) | |
| 22 | g.50721294G>A | CA515261702 | SHANK3 | c.3062G>A (p.Gly1021Glu) n.3646G>A c.2114G>A (p.Gly705Glu) c.1604G>A (p.Gly535Glu) c.*2060G>A (n.*2060G>A) c.3458G>A (p.Gly1153Glu) c.3440G>A (p.Gly1147Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721294G>C | CA515261705 | SHANK3 | c.3062G>C (p.Gly1021Ala) n.3646G>C c.2114G>C (p.Gly705Ala) c.1604G>C (p.Gly535Ala) c.*2060G>C (n.*2060G>C) c.3458G>C (p.Gly1153Ala) c.3440G>C (p.Gly1147Ala) | dbSNP |
| 22 | g.50721294G= | CA2411008149 | SHANK3 | c.3062G= (p.Gly1021=) n.3646G= c.2114G= (p.Gly705=) c.1604G= (p.Gly535=) c.*2060G= (n.*2060G=) c.3458G= (p.Gly1153=) c.3440G= (p.Gly1147=) | |
| 22 | g.50721294G>T | CA515261704 | SHANK3 | c.3062G>T (p.Gly1021Val) n.3646G>T c.2114G>T (p.Gly705Val) c.1604G>T (p.Gly535Val) c.*2060G>T (n.*2060G>T) c.3458G>T (p.Gly1153Val) c.3440G>T (p.Gly1147Val) | |
| 22 | g.50721295G>A | CA515261706 | SHANK3 | c.3063G>A (p.Gly1021=) n.3647G>A c.2115G>A (p.Gly705=) c.1605G>A (p.Gly535=) c.*2061G>A (n.*2061G>A) c.3459G>A (p.Gly1153=) c.3441G>A (p.Gly1147=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721295G>C | CA515261707 | SHANK3 | c.3063G>C (p.Gly1021=) n.3647G>C c.2115G>C (p.Gly705=) c.1605G>C (p.Gly535=) c.*2061G>C (n.*2061G>C) c.3459G>C (p.Gly1153=) c.3441G>C (p.Gly1147=) | |
| 22 | g.50721295G= | CA2411008150 | SHANK3 | c.3063G= (p.Gly1021=) n.3647G= c.2115G= (p.Gly705=) c.1605G= (p.Gly535=) c.*2061G= (n.*2061G=) c.3459G= (p.Gly1153=) c.3441G= (p.Gly1147=) | |
| 22 | g.50721295G>T | CA515261708 | SHANK3 | c.3063G>T (p.Gly1021=) n.3647G>T c.2115G>T (p.Gly705=) c.1605G>T (p.Gly535=) c.*2061G>T (n.*2061G>T) c.3459G>T (p.Gly1153=) c.3441G>T (p.Gly1147=) | gnomAD v4 |
| 22 | g.50721296T>A | CA10326039 | SHANK3 | c.3064T>A (p.Ser1022Thr) n.3648T>A c.2116T>A (p.Ser706Thr) c.1606T>A (p.Ser536Thr) c.*2062T>A (n.*2062T>A) c.3460T>A (p.Ser1154Thr) c.3442T>A (p.Ser1148Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721296T>C | CA515261709 | SHANK3 | c.3064T>C (p.Ser1022Pro) n.3648T>C c.2116T>C (p.Ser706Pro) c.1606T>C (p.Ser536Pro) c.*2062T>C (n.*2062T>C) c.3460T>C (p.Ser1154Pro) c.3442T>C (p.Ser1148Pro) | |
| 22 | g.50721296T>G | CA515261711 | SHANK3 | c.3064T>G (p.Ser1022Ala) n.3648T>G c.2116T>G (p.Ser706Ala) c.1606T>G (p.Ser536Ala) c.*2062T>G (n.*2062T>G) c.3460T>G (p.Ser1154Ala) c.3442T>G (p.Ser1148Ala) | |
| 22 | g.50721296T= | CA2411008151 | SHANK3 | c.3064T= (p.Ser1022=) n.3648T= c.2116T= (p.Ser706=) c.1606T= (p.Ser536=) c.*2062T= (n.*2062T=) c.3460T= (p.Ser1154=) c.3442T= (p.Ser1148=) | |
| 22 | g.50721300_50721308dup | CA1026672344 | SHANK3 | c.3068_3076dup (p.Ser1025_Pro1026insLeuAlaSer) n.3652_3660dup c.2120_2128dup (p.Ser709_Pro710insLeuAlaSer) c.1610_1618dup (p.Ser539_Pro540insLeuAlaSer) c.*2066_*2074dup (n.*2066_*2074dup) c.3464_3472dup (p.Ser1157_Pro1158insLeuAlaSer) c.3446_3454dup (p.Ser1151_Pro1152insLeuAlaSer) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721297C>A | CA515261712 | SHANK3 | c.3065C>A (p.Ser1022Tyr) n.3649C>A c.2117C>A (p.Ser706Tyr) c.1607C>A (p.Ser536Tyr) c.*2063C>A (n.*2063C>A) c.3461C>A (p.Ser1154Tyr) c.3443C>A (p.Ser1148Tyr) | dbSNP gnomAD v4 |
| 22 | g.50721297C= | CA2411008152 | SHANK3 | c.3065C= (p.Ser1022=) n.3649C= c.2117C= (p.Ser706=) c.1607C= (p.Ser536=) c.*2063C= (n.*2063C=) c.3461C= (p.Ser1154=) c.3443C= (p.Ser1148=) | |
| 22 | g.50721297C>G | CA515261713 | SHANK3 | c.3065C>G (p.Ser1022Cys) n.3649C>G c.2117C>G (p.Ser706Cys) c.1607C>G (p.Ser536Cys) c.*2063C>G (n.*2063C>G) c.3461C>G (p.Ser1154Cys) c.3443C>G (p.Ser1148Cys) | ClinVar gnomAD v4 |
| 22 | g.50721297C>T | CA515261717 | SHANK3 | c.3065C>T (p.Ser1022Phe) n.3649C>T c.2117C>T (p.Ser706Phe) c.1607C>T (p.Ser536Phe) c.*2063C>T (n.*2063C>T) c.3461C>T (p.Ser1154Phe) c.3443C>T (p.Ser1148Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721298C>A | CA515261720 | SHANK3 | c.3066C>A (p.Ser1022=) n.3650C>A c.2118C>A (p.Ser706=) c.1608C>A (p.Ser536=) c.*2064C>A (n.*2064C>A) c.3462C>A (p.Ser1154=) c.3444C>A (p.Ser1148=) | |
| 22 | g.50721298C= | CA2411008153 | SHANK3 | c.3066C= (p.Ser1022=) n.3650C= c.2118C= (p.Ser706=) c.1608C= (p.Ser536=) c.*2064C= (n.*2064C=) c.3462C= (p.Ser1154=) c.3444C= (p.Ser1148=) | |
| 22 | g.50721298C>G | CA515261722 | SHANK3 | c.3066C>G (p.Ser1022=) n.3650C>G c.2118C>G (p.Ser706=) c.1608C>G (p.Ser536=) c.*2064C>G (n.*2064C>G) c.3462C>G (p.Ser1154=) c.3444C>G (p.Ser1148=) | |
| 22 | g.50721298C>T | CA10326040 | SHANK3 | c.3066C>T (p.Ser1022=) n.3650C>T c.2118C>T (p.Ser706=) c.1608C>T (p.Ser536=) c.*2064C>T (n.*2064C>T) c.3462C>T (p.Ser1154=) c.3444C>T (p.Ser1148=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721299C>A | CA515261724 | SHANK3 | c.3067C>A (p.Leu1023Met) n.3651C>A c.2119C>A (p.Leu707Met) c.1609C>A (p.Leu537Met) c.*2065C>A (n.*2065C>A) c.3463C>A (p.Leu1155Met) c.3445C>A (p.Leu1149Met) | |
| 22 | g.50721299C= | CA2411008154 | SHANK3 | c.3067C= (p.Leu1023=) n.3651C= c.2119C= (p.Leu707=) c.1609C= (p.Leu537=) c.*2065C= (n.*2065C=) c.3463C= (p.Leu1155=) c.3445C= (p.Leu1149=) | |
| 22 | g.50721299C>G | CA515261723 | SHANK3 | c.3067C>G (p.Leu1023Val) n.3651C>G c.2119C>G (p.Leu707Val) c.1609C>G (p.Leu537Val) c.*2065C>G (n.*2065C>G) c.3463C>G (p.Leu1155Val) c.3445C>G (p.Leu1149Val) | |
| 22 | g.50721299C>T | CA10326041 | SHANK3 | c.3067C>T (p.Leu1023=) n.3651C>T c.2119C>T (p.Leu707=) c.1609C>T (p.Leu537=) c.*2065C>T (n.*2065C>T) c.3463C>T (p.Leu1155=) c.3445C>T (p.Leu1149=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |