| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50721678C>A | CA515263180 | SHANK3 | c.3446C>A (p.Ala1149Asp) n.4030C>A c.2498C>A (p.Ala833Asp) c.1988C>A (p.Ala663Asp) c.*2444C>A (n.*2444C>A) c.3842C>A (p.Ala1281Asp) c.3824C>A (p.Ala1275Asp) | |
| 22 | g.50721678C>G | CA515263181 | SHANK3 | c.3446C>G (p.Ala1149Gly) n.4030C>G c.2498C>G (p.Ala833Gly) c.1988C>G (p.Ala663Gly) c.*2444C>G (n.*2444C>G) c.3842C>G (p.Ala1281Gly) c.3824C>G (p.Ala1275Gly) | gnomAD v4 |
| 22 | g.50721678C>T | CA515263182 | SHANK3 | c.3446C>T (p.Ala1149Val) n.4030C>T c.2498C>T (p.Ala833Val) c.1988C>T (p.Ala663Val) c.*2444C>T (n.*2444C>T) c.3842C>T (p.Ala1281Val) c.3824C>T (p.Ala1275Val) | |
| 22 | g.50721679T>A | CA515263183 | SHANK3 | c.3447T>A (p.Ala1149=) n.4031T>A c.2499T>A (p.Ala833=) c.1989T>A (p.Ala663=) c.*2445T>A (n.*2445T>A) c.3843T>A (p.Ala1281=) c.3825T>A (p.Ala1275=) | |
| 22 | g.50721679T>C | CA515263184 | SHANK3 | c.3447T>C (p.Ala1149=) n.4031T>C c.2499T>C (p.Ala833=) c.1989T>C (p.Ala663=) c.*2445T>C (n.*2445T>C) c.3843T>C (p.Ala1281=) c.3825T>C (p.Ala1275=) | gnomAD v4 |
| 22 | g.50721679T>G | CA515263186 | SHANK3 | c.3447T>G (p.Ala1149=) n.4031T>G c.2499T>G (p.Ala833=) c.1989T>G (p.Ala663=) c.*2445T>G (n.*2445T>G) c.3843T>G (p.Ala1281=) c.3825T>G (p.Ala1275=) | |
| 22 | g.50721680G>A | CA515263187 | SHANK3 | c.3448G>A (p.Val1150Met) n.4032G>A c.2500G>A (p.Val834Met) c.1990G>A (p.Val664Met) c.*2446G>A (n.*2446G>A) c.3844G>A (p.Val1282Met) c.3826G>A (p.Val1276Met) | dbSNP gnomAD v4 |
| 22 | g.50721680G>C | CA515263188 | SHANK3 | c.3448G>C (p.Val1150Leu) n.4032G>C c.2500G>C (p.Val834Leu) c.1990G>C (p.Val664Leu) c.*2446G>C (n.*2446G>C) c.3844G>C (p.Val1282Leu) c.3826G>C (p.Val1276Leu) | dbSNP gnomAD v4 |
| 22 | g.50721680G= | CA2411008391 | SHANK3 | c.3448G= (p.Val1150=) n.4032G= c.2500G= (p.Val834=) c.1990G= (p.Val664=) c.*2446G= (n.*2446G=) c.3844G= (p.Val1282=) c.3826G= (p.Val1276=) | |
| 22 | g.50721680G>T | CA515263190 | SHANK3 | c.3448G>T (p.Val1150Leu) n.4032G>T c.2500G>T (p.Val834Leu) c.1990G>T (p.Val664Leu) c.*2446G>T (n.*2446G>T) c.3844G>T (p.Val1282Leu) c.3826G>T (p.Val1276Leu) | |
| 22 | g.50721681T>A | CA515263191 | SHANK3 | c.3449T>A (p.Val1150Glu) n.4033T>A c.2501T>A (p.Val834Glu) c.1991T>A (p.Val664Glu) c.*2447T>A (n.*2447T>A) c.3845T>A (p.Val1282Glu) c.3827T>A (p.Val1276Glu) | |
| 22 | g.50721681T>C | CA515263192 | SHANK3 | c.3449T>C (p.Val1150Ala) n.4033T>C c.2501T>C (p.Val834Ala) c.1991T>C (p.Val664Ala) c.*2447T>C (n.*2447T>C) c.3845T>C (p.Val1282Ala) c.3827T>C (p.Val1276Ala) | |
| 22 | g.50721681T>G | CA515263193 | SHANK3 | c.3449T>G (p.Val1150Gly) n.4033T>G c.2501T>G (p.Val834Gly) c.1991T>G (p.Val664Gly) c.*2447T>G (n.*2447T>G) c.3845T>G (p.Val1282Gly) c.3827T>G (p.Val1276Gly) | |
| 22 | g.50721682G>A | CA515263196 | SHANK3 | c.3450G>A (p.Val1150=) n.4034G>A c.2502G>A (p.Val834=) c.1992G>A (p.Val664=) c.*2448G>A (n.*2448G>A) c.3846G>A (p.Val1282=) c.3828G>A (p.Val1276=) | |
| 22 | g.50721682G>C | CA515263195 | SHANK3 | c.3450G>C (p.Val1150=) n.4034G>C c.2502G>C (p.Val834=) c.1992G>C (p.Val664=) c.*2448G>C (n.*2448G>C) c.3846G>C (p.Val1282=) c.3828G>C (p.Val1276=) | |
| 22 | g.50721682G>T | CA515263194 | SHANK3 | c.3450G>T (p.Val1150=) n.4034G>T c.2502G>T (p.Val834=) c.1992G>T (p.Val664=) c.*2448G>T (n.*2448G>T) c.3846G>T (p.Val1282=) c.3828G>T (p.Val1276=) | |
| 22 | g.50721683A= | CA2411008392 | SHANK3 | c.3451A= (p.Asn1151=) n.4035A= c.2503A= (p.Asn835=) c.1993A= (p.Asn665=) c.*2449A= (n.*2449A=) c.3847A= (p.Asn1283=) c.3829A= (p.Asn1277=) | |
| 22 | g.50721683A>C | CA515263197 | SHANK3 | c.3451A>C (p.Asn1151His) n.4035A>C c.2503A>C (p.Asn835His) c.1993A>C (p.Asn665His) c.*2449A>C (n.*2449A>C) c.3847A>C (p.Asn1283His) c.3829A>C (p.Asn1277His) | dbSNP |
| 22 | g.50721683A>G | CA515263198 | SHANK3 | c.3451A>G (p.Asn1151Asp) n.4035A>G c.2503A>G (p.Asn835Asp) c.1993A>G (p.Asn665Asp) c.*2449A>G (n.*2449A>G) c.3847A>G (p.Asn1283Asp) c.3829A>G (p.Asn1277Asp) | |
| 22 | g.50721683A>T | CA515263199 | SHANK3 | c.3451A>T (p.Asn1151Tyr) n.4035A>T c.2503A>T (p.Asn835Tyr) c.1993A>T (p.Asn665Tyr) c.*2449A>T (n.*2449A>T) c.3847A>T (p.Asn1283Tyr) c.3829A>T (p.Asn1277Tyr) | |
| 22 | g.50721684A= | CA2411008393 | SHANK3 | c.3452A= (p.Asn1151=) n.4036A= c.2504A= (p.Asn835=) c.1994A= (p.Asn665=) c.*2450A= (n.*2450A=) c.3848A= (p.Asn1283=) c.3830A= (p.Asn1277=) | |
| 22 | g.50721684A>C | CA515263200 | SHANK3 | c.3452A>C (p.Asn1151Thr) n.4036A>C c.2504A>C (p.Asn835Thr) c.1994A>C (p.Asn665Thr) c.*2450A>C (n.*2450A>C) c.3848A>C (p.Asn1283Thr) c.3830A>C (p.Asn1277Thr) | |
| 22 | g.50721684A>G | CA515263201 | SHANK3 | c.3452A>G (p.Asn1151Ser) n.4036A>G c.2504A>G (p.Asn835Ser) c.1994A>G (p.Asn665Ser) c.*2450A>G (n.*2450A>G) c.3848A>G (p.Asn1283Ser) c.3830A>G (p.Asn1277Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721684A>T | CA515263202 | SHANK3 | c.3452A>T (p.Asn1151Ile) n.4036A>T c.2504A>T (p.Asn835Ile) c.1994A>T (p.Asn665Ile) c.*2450A>T (n.*2450A>T) c.3848A>T (p.Asn1283Ile) c.3830A>T (p.Asn1277Ile) | |
| 22 | g.50721685C>A | CA515263203 | SHANK3 | c.3453C>A (p.Asn1151Lys) n.4037C>A c.2505C>A (p.Asn835Lys) c.1995C>A (p.Asn665Lys) c.*2451C>A (n.*2451C>A) c.3849C>A (p.Asn1283Lys) c.3831C>A (p.Asn1277Lys) | |
| 22 | g.50721685C= | CA2411008394 | SHANK3 | c.3453C= (p.Asn1151=) n.4037C= c.2505C= (p.Asn835=) c.1995C= (p.Asn665=) c.*2451C= (n.*2451C=) c.3849C= (p.Asn1283=) c.3831C= (p.Asn1277=) | |
| 22 | g.50721685C>G | CA515263204 | SHANK3 | c.3453C>G (p.Asn1151Lys) n.4037C>G c.2505C>G (p.Asn835Lys) c.1995C>G (p.Asn665Lys) c.*2451C>G (n.*2451C>G) c.3849C>G (p.Asn1283Lys) c.3831C>G (p.Asn1277Lys) | |
| 22 | g.50721685C>T | CA10326156 | SHANK3 | c.3453C>T (p.Asn1151=) n.4037C>T c.2505C>T (p.Asn835=) c.1995C>T (p.Asn665=) c.*2451C>T (n.*2451C>T) c.3849C>T (p.Asn1283=) c.3831C>T (p.Asn1277=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721686C>A | CA515263205 | SHANK3 | c.3454C>A (p.Leu1152Met) n.4038C>A c.2506C>A (p.Leu836Met) c.1996C>A (p.Leu666Met) c.*2452C>A (n.*2452C>A) c.3850C>A (p.Leu1284Met) c.3832C>A (p.Leu1278Met) | |
| 22 | g.50721686C= | CA2411008395 | SHANK3 | c.3454C= (p.Leu1152=) n.4038C= c.2506C= (p.Leu836=) c.1996C= (p.Leu666=) c.*2452C= (n.*2452C=) c.3850C= (p.Leu1284=) c.3832C= (p.Leu1278=) | |
| 22 | g.50721686C>G | CA515263206 | SHANK3 | c.3454C>G (p.Leu1152Val) n.4038C>G c.2506C>G (p.Leu836Val) c.1996C>G (p.Leu666Val) c.*2452C>G (n.*2452C>G) c.3850C>G (p.Leu1284Val) c.3832C>G (p.Leu1278Val) | |
| 22 | g.50721686C>T | CA10326157 | SHANK3 | c.3454C>T (p.Leu1152=) n.4038C>T c.2506C>T (p.Leu836=) c.1996C>T (p.Leu666=) c.*2452C>T (n.*2452C>T) c.3850C>T (p.Leu1284=) c.3832C>T (p.Leu1278=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721687T>A | CA515263209 | SHANK3 | c.3455T>A (p.Leu1152Gln) n.4039T>A c.2507T>A (p.Leu836Gln) c.1997T>A (p.Leu666Gln) c.*2453T>A (n.*2453T>A) c.3851T>A (p.Leu1284Gln) c.3833T>A (p.Leu1278Gln) | |
| 22 | g.50721687T>C | CA515263207 | SHANK3 | c.3455T>C (p.Leu1152Pro) n.4039T>C c.2507T>C (p.Leu836Pro) c.1997T>C (p.Leu666Pro) c.*2453T>C (n.*2453T>C) c.3851T>C (p.Leu1284Pro) c.3833T>C (p.Leu1278Pro) | |
| 22 | g.50721687T>G | CA515263208 | SHANK3 | c.3455T>G (p.Leu1152Arg) n.4039T>G c.2507T>G (p.Leu836Arg) c.1997T>G (p.Leu666Arg) c.*2453T>G (n.*2453T>G) c.3851T>G (p.Leu1284Arg) c.3833T>G (p.Leu1278Arg) | |
| 22 | g.50721688G>A | CA515263210 | SHANK3 | c.3456G>A (p.Leu1152=) n.4040G>A c.2508G>A (p.Leu836=) c.1998G>A (p.Leu666=) c.*2454G>A (n.*2454G>A) c.3852G>A (p.Leu1284=) c.3834G>A (p.Leu1278=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721688G>C | CA515263211 | SHANK3 | c.3456G>C (p.Leu1152=) n.4040G>C c.2508G>C (p.Leu836=) c.1998G>C (p.Leu666=) c.*2454G>C (n.*2454G>C) c.3852G>C (p.Leu1284=) c.3834G>C (p.Leu1278=) | dbSNP gnomAD v4 |
| 22 | g.50721688G= | CA2411008396 | SHANK3 | c.3456G= (p.Leu1152=) n.4040G= c.2508G= (p.Leu836=) c.1998G= (p.Leu666=) c.*2454G= (n.*2454G=) c.3852G= (p.Leu1284=) c.3834G= (p.Leu1278=) | |
| 22 | g.50721688G>T | CA515263212 | SHANK3 | c.3456G>T (p.Leu1152=) n.4040G>T c.2508G>T (p.Leu836=) c.1998G>T (p.Leu666=) c.*2454G>T (n.*2454G>T) c.3852G>T (p.Leu1284=) c.3834G>T (p.Leu1278=) | |
| 22 | g.50721689C>A | CA515263213 | SHANK3 | c.3457C>A (p.Pro1153Thr) n.4041C>A c.2509C>A (p.Pro837Thr) c.1999C>A (p.Pro667Thr) c.*2455C>A (n.*2455C>A) c.3853C>A (p.Pro1285Thr) c.3835C>A (p.Pro1279Thr) | |
| 22 | g.50721689C= | CA2411008397 | SHANK3 | c.3457C= (p.Pro1153=) n.4041C= c.2509C= (p.Pro837=) c.1999C= (p.Pro667=) c.*2455C= (n.*2455C=) c.3853C= (p.Pro1285=) c.3835C= (p.Pro1279=) | |
| 22 | g.50721689C>G | CA515263214 | SHANK3 | c.3457C>G (p.Pro1153Ala) n.4041C>G c.2509C>G (p.Pro837Ala) c.1999C>G (p.Pro667Ala) c.*2455C>G (n.*2455C>G) c.3853C>G (p.Pro1285Ala) c.3835C>G (p.Pro1279Ala) | |
| 22 | g.50721689C>T | CA515263215 | SHANK3 | c.3457C>T (p.Pro1153Ser) n.4041C>T c.2509C>T (p.Pro837Ser) c.1999C>T (p.Pro667Ser) c.*2455C>T (n.*2455C>T) c.3853C>T (p.Pro1285Ser) c.3835C>T (p.Pro1279Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721690C>A | CA515263218 | SHANK3 | c.3458C>A (p.Pro1153Gln) n.4042C>A c.2510C>A (p.Pro837Gln) c.2000C>A (p.Pro667Gln) c.*2456C>A (n.*2456C>A) c.3854C>A (p.Pro1285Gln) c.3836C>A (p.Pro1279Gln) | COSMIC COSMIC |
| 22 | g.50721690C= | CA2411008398 | SHANK3 | c.3458C= (p.Pro1153=) n.4042C= c.2510C= (p.Pro837=) c.2000C= (p.Pro667=) c.*2456C= (n.*2456C=) c.3854C= (p.Pro1285=) c.3836C= (p.Pro1279=) | |
| 22 | g.50721690C>G | CA515263217 | SHANK3 | c.3458C>G (p.Pro1153Arg) n.4042C>G c.2510C>G (p.Pro837Arg) c.2000C>G (p.Pro667Arg) c.*2456C>G (n.*2456C>G) c.3854C>G (p.Pro1285Arg) c.3836C>G (p.Pro1279Arg) | |
| 22 | g.50721690C>T | CA515263216 | SHANK3 | c.3458C>T (p.Pro1153Leu) n.4042C>T c.2510C>T (p.Pro837Leu) c.2000C>T (p.Pro667Leu) c.*2456C>T (n.*2456C>T) c.3854C>T (p.Pro1285Leu) c.3836C>T (p.Pro1279Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721691A= | CA2411008399 | SHANK3 | c.3459A= (p.Pro1153=) n.4043A= c.2511A= (p.Pro837=) c.2001A= (p.Pro667=) c.*2457A= (n.*2457A=) c.3855A= (p.Pro1285=) c.3837A= (p.Pro1279=) | |
| 22 | g.50721691A>C | CA515263219 | SHANK3 | c.3459A>C (p.Pro1153=) n.4043A>C c.2511A>C (p.Pro837=) c.2001A>C (p.Pro667=) c.*2457A>C (n.*2457A>C) c.3855A>C (p.Pro1285=) c.3837A>C (p.Pro1279=) | |
| 22 | g.50721691A>G | CA10326158 | SHANK3 | c.3459A>G (p.Pro1153=) n.4043A>G c.2511A>G (p.Pro837=) c.2001A>G (p.Pro667=) c.*2457A>G (n.*2457A>G) c.3855A>G (p.Pro1285=) c.3837A>G (p.Pro1279=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721691A>T | CA515263220 | SHANK3 | c.3459A>T (p.Pro1153=) n.4043A>T c.2511A>T (p.Pro837=) c.2001A>T (p.Pro667=) c.*2457A>T (n.*2457A>T) c.3855A>T (p.Pro1285=) c.3837A>T (p.Pro1279=) | |
| 22 | g.50721692C>A | CA515263221 | SHANK3 | c.3460C>A (p.Pro1154Thr) n.4044C>A c.2512C>A (p.Pro838Thr) c.2002C>A (p.Pro668Thr) c.*2458C>A (n.*2458C>A) c.3856C>A (p.Pro1286Thr) c.3838C>A (p.Pro1280Thr) | |
| 22 | g.50721692C= | CA2411008400 | SHANK3 | c.3460C= (p.Pro1154=) n.4044C= c.2512C= (p.Pro838=) c.2002C= (p.Pro668=) c.*2458C= (n.*2458C=) c.3856C= (p.Pro1286=) c.3838C= (p.Pro1280=) | |
| 22 | g.50721692C>G | CA515263222 | SHANK3 | c.3460C>G (p.Pro1154Ala) n.4044C>G c.2512C>G (p.Pro838Ala) c.2002C>G (p.Pro668Ala) c.*2458C>G (n.*2458C>G) c.3856C>G (p.Pro1286Ala) c.3838C>G (p.Pro1280Ala) | gnomAD v4 |
| 22 | g.50721692C>T | CA515263223 | SHANK3 | c.3460C>T (p.Pro1154Ser) n.4044C>T c.2512C>T (p.Pro838Ser) c.2002C>T (p.Pro668Ser) c.*2458C>T (n.*2458C>T) c.3856C>T (p.Pro1286Ser) c.3838C>T (p.Pro1280Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721693C>A | CA515263224 | SHANK3 | c.3461C>A (p.Pro1154His) n.4045C>A c.2513C>A (p.Pro838His) c.2003C>A (p.Pro668His) c.*2459C>A (n.*2459C>A) c.3857C>A (p.Pro1286His) c.3839C>A (p.Pro1280His) | |
| 22 | g.50721693C= | CA2411008401 | SHANK3 | c.3461C= (p.Pro1154=) n.4045C= c.2513C= (p.Pro838=) c.2003C= (p.Pro668=) c.*2459C= (n.*2459C=) c.3857C= (p.Pro1286=) c.3839C= (p.Pro1280=) | |
| 22 | g.50721693C>G | CA515263226 | SHANK3 | c.3461C>G (p.Pro1154Arg) n.4045C>G c.2513C>G (p.Pro838Arg) c.2003C>G (p.Pro668Arg) c.*2459C>G (n.*2459C>G) c.3857C>G (p.Pro1286Arg) c.3839C>G (p.Pro1280Arg) | gnomAD v4 |
| 22 | g.50721693C>T | CA515263225 | SHANK3 | c.3461C>T (p.Pro1154Leu) n.4045C>T c.2513C>T (p.Pro838Leu) c.2003C>T (p.Pro668Leu) c.*2459C>T (n.*2459C>T) c.3857C>T (p.Pro1286Leu) c.3839C>T (p.Pro1280Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721694T>A | CA515263227 | SHANK3 | c.3462T>A (p.Pro1154=) n.4046T>A c.2514T>A (p.Pro838=) c.2004T>A (p.Pro668=) c.*2460T>A (n.*2460T>A) c.3858T>A (p.Pro1286=) c.3840T>A (p.Pro1280=) | |
| 22 | g.50721694T>C | CA515263228 | SHANK3 | c.3462T>C (p.Pro1154=) n.4046T>C c.2514T>C (p.Pro838=) c.2004T>C (p.Pro668=) c.*2460T>C (n.*2460T>C) c.3858T>C (p.Pro1286=) c.3840T>C (p.Pro1280=) | |
| 22 | g.50721694T>G | CA515263229 | SHANK3 | c.3462T>G (p.Pro1154=) n.4046T>G c.2514T>G (p.Pro838=) c.2004T>G (p.Pro668=) c.*2460T>G (n.*2460T>G) c.3858T>G (p.Pro1286=) c.3840T>G (p.Pro1280=) | |
| 22 | g.50721695G>A | CA10326159 | SHANK3 | c.3463G>A (p.Ala1155Thr) n.4047G>A c.2515G>A (p.Ala839Thr) c.2005G>A (p.Ala669Thr) c.*2461G>A (n.*2461G>A) c.3859G>A (p.Ala1287Thr) c.3841G>A (p.Ala1281Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721695G>C | CA515263230 | SHANK3 | c.3463G>C (p.Ala1155Pro) n.4047G>C c.2515G>C (p.Ala839Pro) c.2005G>C (p.Ala669Pro) c.*2461G>C (n.*2461G>C) c.3859G>C (p.Ala1287Pro) c.3841G>C (p.Ala1281Pro) | |
| 22 | g.50721695G= | CA2411008402 | SHANK3 | c.3463G= (p.Ala1155=) n.4047G= c.2515G= (p.Ala839=) c.2005G= (p.Ala669=) c.*2461G= (n.*2461G=) c.3859G= (p.Ala1287=) c.3841G= (p.Ala1281=) | |
| 22 | g.50721695G>T | CA515263231 | SHANK3 | c.3463G>T (p.Ala1155Ser) n.4047G>T c.2515G>T (p.Ala839Ser) c.2005G>T (p.Ala669Ser) c.*2461G>T (n.*2461G>T) c.3859G>T (p.Ala1287Ser) c.3841G>T (p.Ala1281Ser) | gnomAD v4 |
| 22 | g.50721696C>A | CA515263232 | SHANK3 | c.3464C>A (p.Ala1155Asp) n.4048C>A c.2516C>A (p.Ala839Asp) c.2006C>A (p.Ala669Asp) c.*2462C>A (n.*2462C>A) c.3860C>A (p.Ala1287Asp) c.3842C>A (p.Ala1281Asp) | |
| 22 | g.50721696C= | CA2411008403 | SHANK3 | c.3464C= (p.Ala1155=) n.4048C= c.2516C= (p.Ala839=) c.2006C= (p.Ala669=) c.*2462C= (n.*2462C=) c.3860C= (p.Ala1287=) c.3842C= (p.Ala1281=) | |
| 22 | g.50721696C>G | CA515263233 | SHANK3 | c.3464C>G (p.Ala1155Gly) n.4048C>G c.2516C>G (p.Ala839Gly) c.2006C>G (p.Ala669Gly) c.*2462C>G (n.*2462C>G) c.3860C>G (p.Ala1287Gly) c.3842C>G (p.Ala1281Gly) | |
| 22 | g.50721696C>T | CA10326160 | SHANK3 | c.3464C>T (p.Ala1155Val) n.4048C>T c.2516C>T (p.Ala839Val) c.2006C>T (p.Ala669Val) c.*2462C>T (n.*2462C>T) c.3860C>T (p.Ala1287Val) c.3842C>T (p.Ala1281Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721697C>A | CA515263234 | SHANK3 | c.3465C>A (p.Ala1155=) n.4049C>A c.2517C>A (p.Ala839=) c.2007C>A (p.Ala669=) c.*2463C>A (n.*2463C>A) c.3861C>A (p.Ala1287=) c.3843C>A (p.Ala1281=) | |
| 22 | g.50721697C= | CA2411008404 | SHANK3 | c.3465C= (p.Ala1155=) n.4049C= c.2517C= (p.Ala839=) c.2007C= (p.Ala669=) c.*2463C= (n.*2463C=) c.3861C= (p.Ala1287=) c.3843C= (p.Ala1281=) | |
| 22 | g.50721697C>G | CA515263235 | SHANK3 | c.3465C>G (p.Ala1155=) n.4049C>G c.2517C>G (p.Ala839=) c.2007C>G (p.Ala669=) c.*2463C>G (n.*2463C>G) c.3861C>G (p.Ala1287=) c.3843C>G (p.Ala1281=) | dbSNP gnomAD v4 |
| 22 | g.50721697C>T | CA10326161 | SHANK3 | c.3465C>T (p.Ala1155=) n.4049C>T c.2517C>T (p.Ala839=) c.2007C>T (p.Ala669=) c.*2463C>T (n.*2463C>T) c.3861C>T (p.Ala1287=) c.3843C>T (p.Ala1281=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721698C>A | CA515263237 | SHANK3 | c.3466C>A (p.Gln1156Lys) n.4050C>A c.2518C>A (p.Gln840Lys) c.2008C>A (p.Gln670Lys) c.*2464C>A (n.*2464C>A) c.3862C>A (p.Gln1288Lys) c.3844C>A (p.Gln1282Lys) | |
| 22 | g.50721698C= | CA2411008405 | SHANK3 | c.3466C= (p.Gln1156=) n.4050C= c.2518C= (p.Gln840=) c.2008C= (p.Gln670=) c.*2464C= (n.*2464C=) c.3862C= (p.Gln1288=) c.3844C= (p.Gln1282=) | |
| 22 | g.50721698C>G | CA515263236 | SHANK3 | c.3466C>G (p.Gln1156Glu) n.4050C>G c.2518C>G (p.Gln840Glu) c.2008C>G (p.Gln670Glu) c.*2464C>G (n.*2464C>G) c.3862C>G (p.Gln1288Glu) c.3844C>G (p.Gln1282Glu) | |
| 22 | g.50721698C>T | CA325579586 | SHANK3 | c.3466C>T (p.Gln1156Ter) n.4050C>T c.2518C>T (p.Gln840Ter) c.2008C>T (p.Gln670Ter) c.*2464C>T (n.*2464C>T) c.3862C>T (p.Gln1288Ter) c.3844C>T (p.Gln1282Ter) | ClinVar dbSNP |
| 22 | g.50721699A>C | CA515263238 | SHANK3 | c.3467A>C (p.Gln1156Pro) n.4051A>C c.2519A>C (p.Gln840Pro) c.2009A>C (p.Gln670Pro) c.*2465A>C (n.*2465A>C) c.3863A>C (p.Gln1288Pro) c.3845A>C (p.Gln1282Pro) | gnomAD v4 |
| 22 | g.50721699A>G | CA515263239 | SHANK3 | c.3467A>G (p.Gln1156Arg) n.4051A>G c.2519A>G (p.Gln840Arg) c.2009A>G (p.Gln670Arg) c.*2465A>G (n.*2465A>G) c.3863A>G (p.Gln1288Arg) c.3845A>G (p.Gln1282Arg) | |
| 22 | g.50721699A>T | CA515263240 | SHANK3 | c.3467A>T (p.Gln1156Leu) n.4051A>T c.2519A>T (p.Gln840Leu) c.2009A>T (p.Gln670Leu) c.*2465A>T (n.*2465A>T) c.3863A>T (p.Gln1288Leu) c.3845A>T (p.Gln1282Leu) | |
| 22 | g.50721700G>A | CA515263241 | SHANK3 | c.3468G>A (p.Gln1156=) n.4052G>A c.2520G>A (p.Gln840=) c.2010G>A (p.Gln670=) c.*2466G>A (n.*2466G>A) c.3864G>A (p.Gln1288=) c.3846G>A (p.Gln1282=) | |
| 22 | g.50721700G>C | CA515263242 | SHANK3 | c.3468G>C (p.Gln1156His) n.4052G>C c.2520G>C (p.Gln840His) c.2010G>C (p.Gln670His) c.*2466G>C (n.*2466G>C) c.3864G>C (p.Gln1288His) c.3846G>C (p.Gln1282His) | |
| 22 | g.50721700G>T | CA515263243 | SHANK3 | c.3468G>T (p.Gln1156His) n.4052G>T c.2520G>T (p.Gln840His) c.2010G>T (p.Gln670His) c.*2466G>T (n.*2466G>T) c.3864G>T (p.Gln1288His) c.3846G>T (p.Gln1282His) | |
| 22 | g.50721701C>A | CA515263244 | SHANK3 | c.3469C>A (p.Leu1157Met) n.4053C>A c.2521C>A (p.Leu841Met) c.2011C>A (p.Leu671Met) c.*2467C>A (n.*2467C>A) c.3865C>A (p.Leu1289Met) c.3847C>A (p.Leu1283Met) | gnomAD v4 |
| 22 | g.50721701C= | CA2411008406 | SHANK3 | c.3469C= (p.Leu1157=) n.4053C= c.2521C= (p.Leu841=) c.2011C= (p.Leu671=) c.*2467C= (n.*2467C=) c.3865C= (p.Leu1289=) c.3847C= (p.Leu1283=) | |
| 22 | g.50721701C>G | CA515263245 | SHANK3 | c.3469C>G (p.Leu1157Val) n.4053C>G c.2521C>G (p.Leu841Val) c.2011C>G (p.Leu671Val) c.*2467C>G (n.*2467C>G) c.3865C>G (p.Leu1289Val) c.3847C>G (p.Leu1283Val) | |
| 22 | g.50721701C>T | CA515263246 | SHANK3 | c.3469C>T (p.Leu1157=) n.4053C>T c.2521C>T (p.Leu841=) c.2011C>T (p.Leu671=) c.*2467C>T (n.*2467C>T) c.3865C>T (p.Leu1289=) c.3847C>T (p.Leu1283=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721702T>A | CA515263247 | SHANK3 | c.3470T>A (p.Leu1157Gln) n.4054T>A c.2522T>A (p.Leu841Gln) c.2012T>A (p.Leu671Gln) c.*2468T>A (n.*2468T>A) c.3866T>A (p.Leu1289Gln) c.3848T>A (p.Leu1283Gln) | |
| 22 | g.50721702T>C | CA515263248 | SHANK3 | c.3470T>C (p.Leu1157Pro) n.4054T>C c.2522T>C (p.Leu841Pro) c.2012T>C (p.Leu671Pro) c.*2468T>C (n.*2468T>C) c.3866T>C (p.Leu1289Pro) c.3848T>C (p.Leu1283Pro) | |
| 22 | g.50721702T>G | CA515263249 | SHANK3 | c.3470T>G (p.Leu1157Arg) n.4054T>G c.2522T>G (p.Leu841Arg) c.2012T>G (p.Leu671Arg) c.*2468T>G (n.*2468T>G) c.3866T>G (p.Leu1289Arg) c.3848T>G (p.Leu1283Arg) | |
| 22 | g.50721702_50721705delinsTGTC | CA2411008407 | SHANK3 | c.3470_3473delinsTGTC (p.Leu1157=) n.4054_4057delinsTGTC c.2522_2525delinsTGTC (p.Leu841=) c.2012_2015delinsTGTC (p.Leu671=) c.*2468_*2471delinsTGTC (n.*2468_*2471delinsTGTC) c.3866_3869delinsTGTC (p.Leu1289=) c.3848_3851delinsTGTC (p.Leu1283=) | |
| 22 | g.50721703G>A | CA515263252 | SHANK3 | c.3471G>A (p.Leu1157=) n.4055G>A c.2523G>A (p.Leu841=) c.2013G>A (p.Leu671=) c.*2469G>A (n.*2469G>A) c.3867G>A (p.Leu1289=) c.3849G>A (p.Leu1283=) | |
| 22 | g.50721703G>C | CA515263251 | SHANK3 | c.3471G>C (p.Leu1157=) n.4055G>C c.2523G>C (p.Leu841=) c.2013G>C (p.Leu671=) c.*2469G>C (n.*2469G>C) c.3867G>C (p.Leu1289=) c.3849G>C (p.Leu1283=) | |
| 22 | g.50721703G>T | CA515263250 | SHANK3 | c.3471G>T (p.Leu1157=) n.4055G>T c.2523G>T (p.Leu841=) c.2013G>T (p.Leu671=) c.*2469G>T (n.*2469G>T) c.3867G>T (p.Leu1289=) c.3849G>T (p.Leu1283=) | |
| 22 | g.50721706_50721708del | CA10326162 | SHANK3 | c.3474_3476del (p.Ser1159del) n.4058_4060del c.2526_2528del (p.Ser843del) c.2016_2018del (p.Ser673del) c.*2472_*2474del (n.*2472_*2474del) c.3870_3872del (p.Ser1291del) c.3852_3854del (p.Ser1285del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721704T>A | CA515263253 | SHANK3 | c.3472T>A (p.Ser1158Thr) n.4056T>A c.2524T>A (p.Ser842Thr) c.2014T>A (p.Ser672Thr) c.*2470T>A (n.*2470T>A) c.3868T>A (p.Ser1290Thr) c.3850T>A (p.Ser1284Thr) | |
| 22 | g.50721704T>C | CA515263254 | SHANK3 | c.3472T>C (p.Ser1158Pro) n.4056T>C c.2524T>C (p.Ser842Pro) c.2014T>C (p.Ser672Pro) c.*2470T>C (n.*2470T>C) c.3868T>C (p.Ser1290Pro) c.3850T>C (p.Ser1284Pro) | |
| 22 | g.50721704T>G | CA515263255 | SHANK3 | c.3472T>G (p.Ser1158Ala) n.4056T>G c.2524T>G (p.Ser842Ala) c.2014T>G (p.Ser672Ala) c.*2470T>G (n.*2470T>G) c.3868T>G (p.Ser1290Ala) c.3850T>G (p.Ser1284Ala) | |
| 22 | g.50721705C>A | CA515263256 | SHANK3 | c.3473C>A (p.Ser1158Ter) n.4057C>A c.2525C>A (p.Ser842Ter) c.2015C>A (p.Ser672Ter) c.*2471C>A (n.*2471C>A) c.3869C>A (p.Ser1290Ter) c.3851C>A (p.Ser1284Ter) | gnomAD v4 |
| 22 | g.50721705C= | CA2411008408 | SHANK3 | c.3473C= (p.Ser1158=) n.4057C= c.2525C= (p.Ser842=) c.2015C= (p.Ser672=) c.*2471C= (n.*2471C=) c.3869C= (p.Ser1290=) c.3851C= (p.Ser1284=) | |
| 22 | g.50721705C>G | CA515263257 | SHANK3 | c.3473C>G (p.Ser1158Trp) n.4057C>G c.2525C>G (p.Ser842Trp) c.2015C>G (p.Ser672Trp) c.*2471C>G (n.*2471C>G) c.3869C>G (p.Ser1290Trp) c.3851C>G (p.Ser1284Trp) | |
| 22 | g.50721705C>T | CA10326163 | SHANK3 | c.3473C>T (p.Ser1158Leu) n.4057C>T c.2525C>T (p.Ser842Leu) c.2015C>T (p.Ser672Leu) c.*2471C>T (n.*2471C>T) c.3869C>T (p.Ser1290Leu) c.3851C>T (p.Ser1284Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721706G>A | CA10326164 | SHANK3 | c.3474G>A (p.Ser1158=) n.4058G>A c.2526G>A (p.Ser842=) c.2016G>A (p.Ser672=) c.*2472G>A (n.*2472G>A) c.3870G>A (p.Ser1290=) c.3852G>A (p.Ser1284=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721706G>C | CA515263258 | SHANK3 | c.3474G>C (p.Ser1158=) n.4058G>C c.2526G>C (p.Ser842=) c.2016G>C (p.Ser672=) c.*2472G>C (n.*2472G>C) c.3870G>C (p.Ser1290=) c.3852G>C (p.Ser1284=) | |
| 22 | g.50721706G= | CA2411008409 | SHANK3 | c.3474G= (p.Ser1158=) n.4058G= c.2526G= (p.Ser842=) c.2016G= (p.Ser672=) c.*2472G= (n.*2472G=) c.3870G= (p.Ser1290=) c.3852G= (p.Ser1284=) | |
| 22 | g.50721706G>T | CA515263259 | SHANK3 | c.3474G>T (p.Ser1158=) n.4058G>T c.2526G>T (p.Ser842=) c.2016G>T (p.Ser672=) c.*2472G>T (n.*2472G>T) c.3870G>T (p.Ser1290=) c.3852G>T (p.Ser1284=) | COSMIC COSMIC COSMIC |
| 22 | g.50721707T>A | CA515263261 | SHANK3 | c.3475T>A (p.Ser1159Thr) n.4059T>A c.2527T>A (p.Ser843Thr) c.2017T>A (p.Ser673Thr) c.*2473T>A (n.*2473T>A) c.3871T>A (p.Ser1291Thr) c.3853T>A (p.Ser1285Thr) | |
| 22 | g.50721707T>C | CA515263262 | SHANK3 | c.3475T>C (p.Ser1159Pro) n.4059T>C c.2527T>C (p.Ser843Pro) c.2017T>C (p.Ser673Pro) c.*2473T>C (n.*2473T>C) c.3871T>C (p.Ser1291Pro) c.3853T>C (p.Ser1285Pro) | |
| 22 | g.50721707T>G | CA515263263 | SHANK3 | c.3475T>G (p.Ser1159Ala) n.4059T>G c.2527T>G (p.Ser843Ala) c.2017T>G (p.Ser673Ala) c.*2473T>G (n.*2473T>G) c.3871T>G (p.Ser1291Ala) c.3853T>G (p.Ser1285Ala) | |
| 22 | g.50721708C>A | CA515263266 | SHANK3 | c.3476C>A (p.Ser1159Tyr) n.4060C>A c.2528C>A (p.Ser843Tyr) c.2018C>A (p.Ser673Tyr) c.*2474C>A (n.*2474C>A) c.3872C>A (p.Ser1291Tyr) c.3854C>A (p.Ser1285Tyr) | |
| 22 | g.50721708C>G | CA515263264 | SHANK3 | c.3476C>G (p.Ser1159Cys) n.4060C>G c.2528C>G (p.Ser843Cys) c.2018C>G (p.Ser673Cys) c.*2474C>G (n.*2474C>G) c.3872C>G (p.Ser1291Cys) c.3854C>G (p.Ser1285Cys) | |
| 22 | g.50721708C>T | CA515263265 | SHANK3 | c.3476C>T (p.Ser1159Phe) n.4060C>T c.2528C>T (p.Ser843Phe) c.2018C>T (p.Ser673Phe) c.*2474C>T (n.*2474C>T) c.3872C>T (p.Ser1291Phe) c.3854C>T (p.Ser1285Phe) | gnomAD v4 |
| 22 | g.50721709C>A | CA515263267 | SHANK3 | c.3477C>A (p.Ser1159=) n.4061C>A c.2529C>A (p.Ser843=) c.2019C>A (p.Ser673=) c.*2475C>A (n.*2475C>A) c.3873C>A (p.Ser1291=) c.3855C>A (p.Ser1285=) | gnomAD v4 |
| 22 | g.50721709C= | CA2411008410 | SHANK3 | c.3477C= (p.Ser1159=) n.4061C= c.2529C= (p.Ser843=) c.2019C= (p.Ser673=) c.*2475C= (n.*2475C=) c.3873C= (p.Ser1291=) c.3855C= (p.Ser1285=) | |
| 22 | g.50721709C>G | CA515263268 | SHANK3 | c.3477C>G (p.Ser1159=) n.4061C>G c.2529C>G (p.Ser843=) c.2019C>G (p.Ser673=) c.*2475C>G (n.*2475C>G) c.3873C>G (p.Ser1291=) c.3855C>G (p.Ser1285=) | |
| 22 | g.50721709C>T | CA10326165 | SHANK3 | c.3477C>T (p.Ser1159=) n.4061C>T c.2529C>T (p.Ser843=) c.2019C>T (p.Ser673=) c.*2475C>T (n.*2475C>T) c.3873C>T (p.Ser1291=) c.3855C>T (p.Ser1285=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 22 | g.50721710A>C | CA515263269 | SHANK3 | c.3478A>C (p.Ser1160Arg) n.4062A>C c.2530A>C (p.Ser844Arg) c.2020A>C (p.Ser674Arg) c.*2476A>C (n.*2476A>C) c.3874A>C (p.Ser1292Arg) c.3856A>C (p.Ser1286Arg) | |
| 22 | g.50721710A>G | CA515263270 | SHANK3 | c.3478A>G (p.Ser1160Gly) n.4062A>G c.2530A>G (p.Ser844Gly) c.2020A>G (p.Ser674Gly) c.*2476A>G (n.*2476A>G) c.3874A>G (p.Ser1292Gly) c.3856A>G (p.Ser1286Gly) | |
| 22 | g.50721710A>T | CA515263271 | SHANK3 | c.3478A>T (p.Ser1160Cys) n.4062A>T c.2530A>T (p.Ser844Cys) c.2020A>T (p.Ser674Cys) c.*2476A>T (n.*2476A>T) c.3874A>T (p.Ser1292Cys) c.3856A>T (p.Ser1286Cys) | |
| 22 | g.50721711G>A | CA515263274 | SHANK3 | c.3479G>A (p.Ser1160Asn) n.4063G>A c.2531G>A (p.Ser844Asn) c.2021G>A (p.Ser674Asn) c.*2477G>A (n.*2477G>A) c.3875G>A (p.Ser1292Asn) c.3857G>A (p.Ser1286Asn) | |
| 22 | g.50721711G>C | CA515263273 | SHANK3 | c.3479G>C (p.Ser1160Thr) n.4063G>C c.2531G>C (p.Ser844Thr) c.2021G>C (p.Ser674Thr) c.*2477G>C (n.*2477G>C) c.3875G>C (p.Ser1292Thr) c.3857G>C (p.Ser1286Thr) | |
| 22 | g.50721711G>T | CA515263272 | SHANK3 | c.3479G>T (p.Ser1160Ile) n.4063G>T c.2531G>T (p.Ser844Ile) c.2021G>T (p.Ser674Ile) c.*2477G>T (n.*2477G>T) c.3875G>T (p.Ser1292Ile) c.3857G>T (p.Ser1286Ile) | gnomAD v4 |
| 22 | g.50721712C>A | CA515263275 | SHANK3 | c.3480C>A (p.Ser1160Arg) n.4064C>A c.2532C>A (p.Ser844Arg) c.2022C>A (p.Ser674Arg) c.*2478C>A (n.*2478C>A) c.3876C>A (p.Ser1292Arg) c.3858C>A (p.Ser1286Arg) | |
| 22 | g.50721712C= | CA2411008411 | SHANK3 | c.3480C= (p.Ser1160=) n.4064C= c.2532C= (p.Ser844=) c.2022C= (p.Ser674=) c.*2478C= (n.*2478C=) c.3876C= (p.Ser1292=) c.3858C= (p.Ser1286=) | |
| 22 | g.50721712C>G | CA515263276 | SHANK3 | c.3480C>G (p.Ser1160Arg) n.4064C>G c.2532C>G (p.Ser844Arg) c.2022C>G (p.Ser674Arg) c.*2478C>G (n.*2478C>G) c.3876C>G (p.Ser1292Arg) c.3858C>G (p.Ser1286Arg) | |
| 22 | g.50721712C>T | CA10326166 | SHANK3 | c.3480C>T (p.Ser1160=) n.4064C>T c.2532C>T (p.Ser844=) c.2022C>T (p.Ser674=) c.*2478C>T (n.*2478C>T) c.3876C>T (p.Ser1292=) c.3858C>T (p.Ser1286=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721713G>A | CA515263277 | SHANK3 | c.3481G>A (p.Asp1161Asn) n.4065G>A c.2533G>A (p.Asp845Asn) c.2023G>A (p.Asp675Asn) c.*2479G>A (n.*2479G>A) c.3877G>A (p.Asp1293Asn) c.3859G>A (p.Asp1287Asn) | dbSNP gnomAD v2 |
| 22 | g.50721713G>C | CA515263278 | SHANK3 | c.3481G>C (p.Asp1161His) n.4065G>C c.2533G>C (p.Asp845His) c.2023G>C (p.Asp675His) c.*2479G>C (n.*2479G>C) c.3877G>C (p.Asp1293His) c.3859G>C (p.Asp1287His) | ClinVar |
| 22 | g.50721713G= | CA2411008412 | SHANK3 | c.3481G= (p.Asp1161=) n.4065G= c.2533G= (p.Asp845=) c.2023G= (p.Asp675=) c.*2479G= (n.*2479G=) c.3877G= (p.Asp1293=) c.3859G= (p.Asp1287=) | |
| 22 | g.50721713G>T | CA515263279 | SHANK3 | c.3481G>T (p.Asp1161Tyr) n.4065G>T c.2533G>T (p.Asp845Tyr) c.2023G>T (p.Asp675Tyr) c.*2479G>T (n.*2479G>T) c.3877G>T (p.Asp1293Tyr) c.3859G>T (p.Asp1287Tyr) | |
| 22 | g.50721714A>C | CA515263280 | SHANK3 | c.3482A>C (p.Asp1161Ala) n.4066A>C c.2534A>C (p.Asp845Ala) c.2024A>C (p.Asp675Ala) c.*2480A>C (n.*2480A>C) c.3878A>C (p.Asp1293Ala) c.3860A>C (p.Asp1287Ala) | |
| 22 | g.50721714A>G | CA515263282 | SHANK3 | c.3482A>G (p.Asp1161Gly) n.4066A>G c.2534A>G (p.Asp845Gly) c.2024A>G (p.Asp675Gly) c.*2480A>G (n.*2480A>G) c.3878A>G (p.Asp1293Gly) c.3860A>G (p.Asp1287Gly) | |
| 22 | g.50721714A>T | CA515263281 | SHANK3 | c.3482A>T (p.Asp1161Val) n.4066A>T c.2534A>T (p.Asp845Val) c.2024A>T (p.Asp675Val) c.*2480A>T (n.*2480A>T) c.3878A>T (p.Asp1293Val) c.3860A>T (p.Asp1287Val) | |
| 22 | g.50721715T>A | CA515263283 | SHANK3 | c.3483T>A (p.Asp1161Glu) n.4067T>A c.2535T>A (p.Asp845Glu) c.2025T>A (p.Asp675Glu) c.*2481T>A (n.*2481T>A) c.3879T>A (p.Asp1293Glu) c.3861T>A (p.Asp1287Glu) | |
| 22 | g.50721715T>C | CA515263284 | SHANK3 | c.3483T>C (p.Asp1161=) n.4067T>C c.2535T>C (p.Asp845=) c.2025T>C (p.Asp675=) c.*2481T>C (n.*2481T>C) c.3879T>C (p.Asp1293=) c.3861T>C (p.Asp1287=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721715T>G | CA515263285 | SHANK3 | c.3483T>G (p.Asp1161Glu) n.4067T>G c.2535T>G (p.Asp845Glu) c.2025T>G (p.Asp675Glu) c.*2481T>G (n.*2481T>G) c.3879T>G (p.Asp1293Glu) c.3861T>G (p.Asp1287Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721715T= | CA2411008415 | SHANK3 | c.3483T= (p.Asp1161=) n.4067T= c.2535T= (p.Asp845=) c.2025T= (p.Asp675=) c.*2481T= (n.*2481T=) c.3879T= (p.Asp1293=) c.3861T= (p.Asp1287=) | |
| 22 | g.50721715_50721716delinsTG | CA2411008414 | SHANK3 | c.3483_3484delinsTG (p.Asp1161=) n.4067_4068delinsTG c.2535_2536delinsTG (p.Asp845=) c.2025_2026delinsTG (p.Asp675=) c.*2481_*2482delinsTG (n.*2481_*2482delinsTG) c.3879_3880delinsTG (p.Asp1293=) c.3861_3862delinsTG (p.Asp1287=) | |
| 22 | g.50721715_50721718delinsTGAG | CA2411008413 | SHANK3 | c.3483_3486delinsTGAG (p.Asp1161=) n.4067_4070delinsTGAG c.2535_2538delinsTGAG (p.Asp845=) c.2025_2028delinsTGAG (p.Asp675=) c.*2481_*2484delinsTGAG (n.*2481_*2484delinsTGAG) c.3879_3882delinsTGAG (p.Asp1293=) c.3861_3864delinsTGAG (p.Asp1287=) | |
| 22 | g.50721716del | CA16616763 | SHANK3 | c.3484del (p.Glu1162ArgfsTer?) n.4068del c.2536del (p.Glu846ArgfsTer?) c.2026del (p.Glu676ArgfsTer?) c.*2482del (n.*2482del) c.3880del (p.Glu1294ArgfsTer?) c.3862del (p.Glu1288ArgfsTer?) | ClinVar dbSNP |
| 22 | g.50721716G>A | CA515263286 | SHANK3 | c.3484G>A (p.Glu1162Lys) n.4068G>A c.2536G>A (p.Glu846Lys) c.2026G>A (p.Glu676Lys) c.*2482G>A (n.*2482G>A) c.3880G>A (p.Glu1294Lys) c.3862G>A (p.Glu1288Lys) | dbSNP gnomAD v2 |
| 22 | g.50721716G>C | CA515263287 | SHANK3 | c.3484G>C (p.Glu1162Gln) n.4068G>C c.2536G>C (p.Glu846Gln) c.2026G>C (p.Glu676Gln) c.*2482G>C (n.*2482G>C) c.3880G>C (p.Glu1294Gln) c.3862G>C (p.Glu1288Gln) | |
| 22 | g.50721716G= | CA2411008416 | SHANK3 | c.3484G= (p.Glu1162=) n.4068G= c.2536G= (p.Glu846=) c.2026G= (p.Glu676=) c.*2482G= (n.*2482G=) c.3880G= (p.Glu1294=) c.3862G= (p.Glu1288=) | |
| 22 | g.50721716G>T | CA515263288 | SHANK3 | c.3484G>T (p.Glu1162Ter) n.4068G>T c.2536G>T (p.Glu846Ter) c.2026G>T (p.Glu676Ter) c.*2482G>T (n.*2482G>T) c.3880G>T (p.Glu1294Ter) c.3862G>T (p.Glu1288Ter) | |
| 22 | g.50721719_50721721del | CA640359040 | SHANK3 | c.3487_3489del (p.Glu1163del) n.4071_4073del c.2539_2541del (p.Glu847del) c.2029_2031del (p.Glu677del) c.*2485_*2487del (n.*2485_*2487del) c.3883_3885del (p.Glu1295del) c.3865_3867del (p.Glu1289del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721717A>C | CA515263289 | SHANK3 | c.3485A>C (p.Glu1162Ala) n.4069A>C c.2537A>C (p.Glu846Ala) c.2027A>C (p.Glu676Ala) c.*2483A>C (n.*2483A>C) c.3881A>C (p.Glu1294Ala) c.3863A>C (p.Glu1288Ala) | |
| 22 | g.50721717A>G | CA515263290 | SHANK3 | c.3485A>G (p.Glu1162Gly) n.4069A>G c.2537A>G (p.Glu846Gly) c.2027A>G (p.Glu676Gly) c.*2483A>G (n.*2483A>G) c.3881A>G (p.Glu1294Gly) c.3863A>G (p.Glu1288Gly) | |
| 22 | g.50721717A>T | CA515263291 | SHANK3 | c.3485A>T (p.Glu1162Val) n.4069A>T c.2537A>T (p.Glu846Val) c.2027A>T (p.Glu676Val) c.*2483A>T (n.*2483A>T) c.3881A>T (p.Glu1294Val) c.3863A>T (p.Glu1288Val) | |
| 22 | g.50721718G>A | CA10326167 | SHANK3 | c.3486G>A (p.Glu1162=) n.4070G>A c.2538G>A (p.Glu846=) c.2028G>A (p.Glu676=) c.*2484G>A (n.*2484G>A) c.3882G>A (p.Glu1294=) c.3864G>A (p.Glu1288=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721718G>C | CA515263292 | SHANK3 | c.3486G>C (p.Glu1162Asp) n.4070G>C c.2538G>C (p.Glu846Asp) c.2028G>C (p.Glu676Asp) c.*2484G>C (n.*2484G>C) c.3882G>C (p.Glu1294Asp) c.3864G>C (p.Glu1288Asp) | |
| 22 | g.50721718G= | CA2411008417 | SHANK3 | c.3486G= (p.Glu1162=) n.4070G= c.2538G= (p.Glu846=) c.2028G= (p.Glu676=) c.*2484G= (n.*2484G=) c.3882G= (p.Glu1294=) c.3864G= (p.Glu1288=) | |
| 22 | g.50721718G>T | CA515263293 | SHANK3 | c.3486G>T (p.Glu1162Asp) n.4070G>T c.2538G>T (p.Glu846Asp) c.2028G>T (p.Glu676Asp) c.*2484G>T (n.*2484G>T) c.3882G>T (p.Glu1294Asp) c.3864G>T (p.Glu1288Asp) | |
| 22 | g.50721719G>A | CA10326168 | SHANK3 | c.3487G>A (p.Glu1163Lys) n.4071G>A c.2539G>A (p.Glu847Lys) c.2029G>A (p.Glu677Lys) c.*2485G>A (n.*2485G>A) c.3883G>A (p.Glu1295Lys) c.3865G>A (p.Glu1289Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721719G>C | CA515263295 | SHANK3 | c.3487G>C (p.Glu1163Gln) n.4071G>C c.2539G>C (p.Glu847Gln) c.2029G>C (p.Glu677Gln) c.*2485G>C (n.*2485G>C) c.3883G>C (p.Glu1295Gln) c.3865G>C (p.Glu1289Gln) | |
| 22 | g.50721719G= | CA2411008418 | SHANK3 | c.3487G= (p.Glu1163=) n.4071G= c.2539G= (p.Glu847=) c.2029G= (p.Glu677=) c.*2485G= (n.*2485G=) c.3883G= (p.Glu1295=) c.3865G= (p.Glu1289=) | |
| 22 | g.50721719G>T | CA515263294 | SHANK3 | c.3487G>T (p.Glu1163Ter) n.4071G>T c.2539G>T (p.Glu847Ter) c.2029G>T (p.Glu677Ter) c.*2485G>T (n.*2485G>T) c.3883G>T (p.Glu1295Ter) c.3865G>T (p.Glu1289Ter) | |
| 22 | g.50721720A>C | CA515263296 | SHANK3 | c.3488A>C (p.Glu1163Ala) n.4072A>C c.2540A>C (p.Glu847Ala) c.2030A>C (p.Glu677Ala) c.*2486A>C (n.*2486A>C) c.3884A>C (p.Glu1295Ala) c.3866A>C (p.Glu1289Ala) | |
| 22 | g.50721720A>G | CA515263297 | SHANK3 | c.3488A>G (p.Glu1163Gly) n.4072A>G c.2540A>G (p.Glu847Gly) c.2030A>G (p.Glu677Gly) c.*2486A>G (n.*2486A>G) c.3884A>G (p.Glu1295Gly) c.3866A>G (p.Glu1289Gly) | gnomAD v4 |
| 22 | g.50721720A>T | CA515263298 | SHANK3 | c.3488A>T (p.Glu1163Val) n.4072A>T c.2540A>T (p.Glu847Val) c.2030A>T (p.Glu677Val) c.*2486A>T (n.*2486A>T) c.3884A>T (p.Glu1295Val) c.3866A>T (p.Glu1289Val) | |
| 22 | g.50721721G>A | CA515263299 | SHANK3 | c.3489G>A (p.Glu1163=) n.4073G>A c.2541G>A (p.Glu847=) c.2031G>A (p.Glu677=) c.*2487G>A (n.*2487G>A) c.3885G>A (p.Glu1295=) c.3867G>A (p.Glu1289=) | dbSNP gnomAD v2 |
| 22 | g.50721721G>C | CA515263300 | SHANK3 | c.3489G>C (p.Glu1163Asp) n.4073G>C c.2541G>C (p.Glu847Asp) c.2031G>C (p.Glu677Asp) c.*2487G>C (n.*2487G>C) c.3885G>C (p.Glu1295Asp) c.3867G>C (p.Glu1289Asp) | |
| 22 | g.50721721G= | CA2411008419 | SHANK3 | c.3489G= (p.Glu1163=) n.4073G= c.2541G= (p.Glu847=) c.2031G= (p.Glu677=) c.*2487G= (n.*2487G=) c.3885G= (p.Glu1295=) c.3867G= (p.Glu1289=) | |
| 22 | g.50721721G>T | CA515263301 | SHANK3 | c.3489G>T (p.Glu1163Asp) n.4073G>T c.2541G>T (p.Glu847Asp) c.2031G>T (p.Glu677Asp) c.*2487G>T (n.*2487G>T) c.3885G>T (p.Glu1295Asp) c.3867G>T (p.Glu1289Asp) | |
| 22 | g.50721722A>C | CA515263302 | SHANK3 | c.3490A>C (p.Thr1164Pro) n.4074A>C c.2542A>C (p.Thr848Pro) c.2032A>C (p.Thr678Pro) c.*2488A>C (n.*2488A>C) c.3886A>C (p.Thr1296Pro) c.3868A>C (p.Thr1290Pro) | |
| 22 | g.50721722A>G | CA515263303 | SHANK3 | c.3490A>G (p.Thr1164Ala) n.4074A>G c.2542A>G (p.Thr848Ala) c.2032A>G (p.Thr678Ala) c.*2488A>G (n.*2488A>G) c.3886A>G (p.Thr1296Ala) c.3868A>G (p.Thr1290Ala) | |
| 22 | g.50721722A>T | CA515263304 | SHANK3 | c.3490A>T (p.Thr1164Ser) n.4074A>T c.2542A>T (p.Thr848Ser) c.2032A>T (p.Thr678Ser) c.*2488A>T (n.*2488A>T) c.3886A>T (p.Thr1296Ser) c.3868A>T (p.Thr1290Ser) | |
| 22 | g.50721723C>A | CA515263305 | SHANK3 | c.3491C>A (p.Thr1164Asn) n.4075C>A c.2543C>A (p.Thr848Asn) c.2033C>A (p.Thr678Asn) c.*2489C>A (n.*2489C>A) c.3887C>A (p.Thr1296Asn) c.3869C>A (p.Thr1290Asn) | |
| 22 | g.50721723C>G | CA515263306 | SHANK3 | c.3491C>G (p.Thr1164Ser) n.4075C>G c.2543C>G (p.Thr848Ser) c.2033C>G (p.Thr678Ser) c.*2489C>G (n.*2489C>G) c.3887C>G (p.Thr1296Ser) c.3869C>G (p.Thr1290Ser) | gnomAD v4 |
| 22 | g.50721723C>T | CA515263307 | SHANK3 | c.3491C>T (p.Thr1164Ile) n.4075C>T c.2543C>T (p.Thr848Ile) c.2033C>T (p.Thr678Ile) c.*2489C>T (n.*2489C>T) c.3887C>T (p.Thr1296Ile) c.3869C>T (p.Thr1290Ile) | |
| 22 | g.50721724C>A | CA515263309 | SHANK3 | c.3492C>A (p.Thr1164=) n.4076C>A c.2544C>A (p.Thr848=) c.2034C>A (p.Thr678=) c.*2490C>A (n.*2490C>A) c.3888C>A (p.Thr1296=) c.3870C>A (p.Thr1290=) | |
| 22 | g.50721724C= | CA2411008420 | SHANK3 | c.3492C= (p.Thr1164=) n.4076C= c.2544C= (p.Thr848=) c.2034C= (p.Thr678=) c.*2490C= (n.*2490C=) c.3888C= (p.Thr1296=) c.3870C= (p.Thr1290=) | |
| 22 | g.50721724C>G | CA515263308 | SHANK3 | c.3492C>G (p.Thr1164=) n.4076C>G c.2544C>G (p.Thr848=) c.2034C>G (p.Thr678=) c.*2490C>G (n.*2490C>G) c.3888C>G (p.Thr1296=) c.3870C>G (p.Thr1290=) | |
| 22 | g.50721724C>T | CA10326169 | SHANK3 | c.3492C>T (p.Thr1164=) n.4076C>T c.2544C>T (p.Thr848=) c.2034C>T (p.Thr678=) c.*2490C>T (n.*2490C>T) c.3888C>T (p.Thr1296=) c.3870C>T (p.Thr1290=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 22 | g.50721725A>C | CA515263310 | SHANK3 | c.3493A>C (p.Arg1165=) n.4077A>C c.2545A>C (p.Arg849=) c.2035A>C (p.Arg679=) c.*2491A>C (n.*2491A>C) c.3889A>C (p.Arg1297=) c.3871A>C (p.Arg1291=) | |
| 22 | g.50721725A>G | CA515263311 | SHANK3 | c.3493A>G (p.Arg1165Gly) n.4077A>G c.2545A>G (p.Arg849Gly) c.2035A>G (p.Arg679Gly) c.*2491A>G (n.*2491A>G) c.3889A>G (p.Arg1297Gly) c.3871A>G (p.Arg1291Gly) | COSMIC COSMIC |
| 22 | g.50721725A>T | CA515263312 | SHANK3 | c.3493A>T (p.Arg1165Trp) n.4077A>T c.2545A>T (p.Arg849Trp) c.2035A>T (p.Arg679Trp) c.*2491A>T (n.*2491A>T) c.3889A>T (p.Arg1297Trp) c.3871A>T (p.Arg1291Trp) | |
| 22 | g.50721726G>A | CA10326170 | SHANK3 | c.3494G>A (p.Arg1165Lys) n.4078G>A c.2546G>A (p.Arg849Lys) c.2036G>A (p.Arg679Lys) c.*2492G>A (n.*2492G>A) c.3890G>A (p.Arg1297Lys) c.3872G>A (p.Arg1291Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721726G>C | CA515263313 | SHANK3 | c.3494G>C (p.Arg1165Thr) n.4078G>C c.2546G>C (p.Arg849Thr) c.2036G>C (p.Arg679Thr) c.*2492G>C (n.*2492G>C) c.3890G>C (p.Arg1297Thr) c.3872G>C (p.Arg1291Thr) | |
| 22 | g.50721726G= | CA2411008421 | SHANK3 | c.3494G= (p.Arg1165=) n.4078G= c.2546G= (p.Arg849=) c.2036G= (p.Arg679=) c.*2492G= (n.*2492G=) c.3890G= (p.Arg1297=) c.3872G= (p.Arg1291=) | |
| 22 | g.50721726G>T | CA515263314 | SHANK3 | c.3494G>T (p.Arg1165Met) n.4078G>T c.2546G>T (p.Arg849Met) c.2036G>T (p.Arg679Met) c.*2492G>T (n.*2492G>T) c.3890G>T (p.Arg1297Met) c.3872G>T (p.Arg1291Met) | |
| 22 | g.50721727G>A | CA515263315 | SHANK3 | c.3495G>A (p.Arg1165=) n.4079G>A c.2547G>A (p.Arg849=) c.2037G>A (p.Arg679=) c.*2493G>A (n.*2493G>A) c.3891G>A (p.Arg1297=) c.3873G>A (p.Arg1291=) | |
| 22 | g.50721727G>C | CA515263316 | SHANK3 | c.3495G>C (p.Arg1165Ser) n.4079G>C c.2547G>C (p.Arg849Ser) c.2037G>C (p.Arg679Ser) c.*2493G>C (n.*2493G>C) c.3891G>C (p.Arg1297Ser) c.3873G>C (p.Arg1291Ser) | |
| 22 | g.50721727G>T | CA515263317 | SHANK3 | c.3495G>T (p.Arg1165Ser) n.4079G>T c.2547G>T (p.Arg849Ser) c.2037G>T (p.Arg679Ser) c.*2493G>T (n.*2493G>T) c.3891G>T (p.Arg1297Ser) c.3873G>T (p.Arg1291Ser) | |
| 22 | g.50721728G>A | CA515263318 | SHANK3 | c.3496G>A (p.Glu1166Lys) n.4080G>A c.2548G>A (p.Glu850Lys) c.2038G>A (p.Glu680Lys) c.*2494G>A (n.*2494G>A) c.3892G>A (p.Glu1298Lys) c.3874G>A (p.Glu1292Lys) | |
| 22 | g.50721728G>C | CA515263319 | SHANK3 | c.3496G>C (p.Glu1166Gln) n.4080G>C c.2548G>C (p.Glu850Gln) c.2038G>C (p.Glu680Gln) c.*2494G>C (n.*2494G>C) c.3892G>C (p.Glu1298Gln) c.3874G>C (p.Glu1292Gln) | |
| 22 | g.50721728G>T | CA515263320 | SHANK3 | c.3496G>T (p.Glu1166Ter) n.4080G>T c.2548G>T (p.Glu850Ter) c.2038G>T (p.Glu680Ter) c.*2494G>T (n.*2494G>T) c.3892G>T (p.Glu1298Ter) c.3874G>T (p.Glu1292Ter) | gnomAD v4 |
| 22 | g.50721729A>C | CA515263321 | SHANK3 | c.3497A>C (p.Glu1166Ala) n.4081A>C c.2549A>C (p.Glu850Ala) c.2039A>C (p.Glu680Ala) c.*2495A>C (n.*2495A>C) c.3893A>C (p.Glu1298Ala) c.3875A>C (p.Glu1292Ala) | gnomAD v4 |
| 22 | g.50721729A>G | CA515263323 | SHANK3 | c.3497A>G (p.Glu1166Gly) n.4081A>G c.2549A>G (p.Glu850Gly) c.2039A>G (p.Glu680Gly) c.*2495A>G (n.*2495A>G) c.3893A>G (p.Glu1298Gly) c.3875A>G (p.Glu1292Gly) | |
| 22 | g.50721729A>T | CA515263322 | SHANK3 | c.3497A>T (p.Glu1166Val) n.4081A>T c.2549A>T (p.Glu850Val) c.2039A>T (p.Glu680Val) c.*2495A>T (n.*2495A>T) c.3893A>T (p.Glu1298Val) c.3875A>T (p.Glu1292Val) | |
| 22 | g.50721730G>A | CA515263324 | SHANK3 | c.3498G>A (p.Glu1166=) n.4082G>A c.2550G>A (p.Glu850=) c.2040G>A (p.Glu680=) c.*2496G>A (n.*2496G>A) c.3894G>A (p.Glu1298=) c.3876G>A (p.Glu1292=) | |
| 22 | g.50721730G>C | CA515263326 | SHANK3 | c.3498G>C (p.Glu1166Asp) n.4082G>C c.2550G>C (p.Glu850Asp) c.2040G>C (p.Glu680Asp) c.*2496G>C (n.*2496G>C) c.3894G>C (p.Glu1298Asp) c.3876G>C (p.Glu1292Asp) | |
| 22 | g.50721730G>T | CA515263325 | SHANK3 | c.3498G>T (p.Glu1166Asp) n.4082G>T c.2550G>T (p.Glu850Asp) c.2040G>T (p.Glu680Asp) c.*2496G>T (n.*2496G>T) c.3894G>T (p.Glu1298Asp) c.3876G>T (p.Glu1292Asp) | |
| 22 | g.50721731G>A | CA515263327 | SHANK3 | c.3499G>A (p.Glu1167Lys) n.4083G>A c.2551G>A (p.Glu851Lys) c.2041G>A (p.Glu681Lys) c.*2497G>A (n.*2497G>A) c.3895G>A (p.Glu1299Lys) c.3877G>A (p.Glu1293Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721731G>C | CA515263329 | SHANK3 | c.3499G>C (p.Glu1167Gln) n.4083G>C c.2551G>C (p.Glu851Gln) c.2041G>C (p.Glu681Gln) c.*2497G>C (n.*2497G>C) c.3895G>C (p.Glu1299Gln) c.3877G>C (p.Glu1293Gln) | |
| 22 | g.50721731G= | CA2411008422 | SHANK3 | c.3499G= (p.Glu1167=) n.4083G= c.2551G= (p.Glu851=) c.2041G= (p.Glu681=) c.*2497G= (n.*2497G=) c.3895G= (p.Glu1299=) c.3877G= (p.Glu1293=) | |
| 22 | g.50721731G>T | CA515263328 | SHANK3 | c.3499G>T (p.Glu1167Ter) n.4083G>T c.2551G>T (p.Glu851Ter) c.2041G>T (p.Glu681Ter) c.*2497G>T (n.*2497G>T) c.3895G>T (p.Glu1299Ter) c.3877G>T (p.Glu1293Ter) | |
| 22 | g.50721732A>C | CA515263330 | SHANK3 | c.3500A>C (p.Glu1167Ala) n.4084A>C c.2552A>C (p.Glu851Ala) c.2042A>C (p.Glu681Ala) c.*2498A>C (n.*2498A>C) c.3896A>C (p.Glu1299Ala) c.3878A>C (p.Glu1293Ala) | |
| 22 | g.50721732A>G | CA515263332 | SHANK3 | c.3500A>G (p.Glu1167Gly) n.4084A>G c.2552A>G (p.Glu851Gly) c.2042A>G (p.Glu681Gly) c.*2498A>G (n.*2498A>G) c.3896A>G (p.Glu1299Gly) c.3878A>G (p.Glu1293Gly) | gnomAD v4 |
| 22 | g.50721732A>T | CA515263331 | SHANK3 | c.3500A>T (p.Glu1167Val) n.4084A>T c.2552A>T (p.Glu851Val) c.2042A>T (p.Glu681Val) c.*2498A>T (n.*2498A>T) c.3896A>T (p.Glu1299Val) c.3878A>T (p.Glu1293Val) | |
| 22 | g.50721733G>A | CA515263333 | SHANK3 | c.3501G>A (p.Glu1167=) n.4085G>A c.2553G>A (p.Glu851=) c.2043G>A (p.Glu681=) c.*2499G>A (n.*2499G>A) c.3897G>A (p.Glu1299=) c.3879G>A (p.Glu1293=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721733G>C | CA515263334 | SHANK3 | c.3501G>C (p.Glu1167Asp) n.4085G>C c.2553G>C (p.Glu851Asp) c.2043G>C (p.Glu681Asp) c.*2499G>C (n.*2499G>C) c.3897G>C (p.Glu1299Asp) c.3879G>C (p.Glu1293Asp) | gnomAD v4 |
| 22 | g.50721733G= | CA2411008423 | SHANK3 | c.3501G= (p.Glu1167=) n.4085G= c.2553G= (p.Glu851=) c.2043G= (p.Glu681=) c.*2499G= (n.*2499G=) c.3897G= (p.Glu1299=) c.3879G= (p.Glu1293=) | |
| 22 | g.50721733G>T | CA515263335 | SHANK3 | c.3501G>T (p.Glu1167Asp) n.4085G>T c.2553G>T (p.Glu851Asp) c.2043G>T (p.Glu681Asp) c.*2499G>T (n.*2499G>T) c.3897G>T (p.Glu1299Asp) c.3879G>T (p.Glu1293Asp) | |
| 22 | g.50721734C>A | CA515263336 | SHANK3 | c.3502C>A (p.Leu1168Met) n.4086C>A c.2554C>A (p.Leu852Met) c.2044C>A (p.Leu682Met) c.*2500C>A (n.*2500C>A) c.3898C>A (p.Leu1300Met) c.3880C>A (p.Leu1294Met) | |
| 22 | g.50721734C= | CA2411008424 | SHANK3 | c.3502C= (p.Leu1168=) n.4086C= c.2554C= (p.Leu852=) c.2044C= (p.Leu682=) c.*2500C= (n.*2500C=) c.3898C= (p.Leu1300=) c.3880C= (p.Leu1294=) | |
| 22 | g.50721734C>G | CA515263337 | SHANK3 | c.3502C>G (p.Leu1168Val) n.4086C>G c.2554C>G (p.Leu852Val) c.2044C>G (p.Leu682Val) c.*2500C>G (n.*2500C>G) c.3898C>G (p.Leu1300Val) c.3880C>G (p.Leu1294Val) | |
| 22 | g.50721734C>T | CA515263338 | SHANK3 | c.3502C>T (p.Leu1168=) n.4086C>T c.2554C>T (p.Leu852=) c.2044C>T (p.Leu682=) c.*2500C>T (n.*2500C>T) c.3898C>T (p.Leu1300=) c.3880C>T (p.Leu1294=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721735T>A | CA515263339 | SHANK3 | c.3503T>A (p.Leu1168Gln) n.4087T>A c.2555T>A (p.Leu852Gln) c.2045T>A (p.Leu682Gln) c.*2501T>A (n.*2501T>A) c.3899T>A (p.Leu1300Gln) c.3881T>A (p.Leu1294Gln) | |
| 22 | g.50721735T>C | CA515263340 | SHANK3 | c.3503T>C (p.Leu1168Pro) n.4087T>C c.2555T>C (p.Leu852Pro) c.2045T>C (p.Leu682Pro) c.*2501T>C (n.*2501T>C) c.3899T>C (p.Leu1300Pro) c.3881T>C (p.Leu1294Pro) | |
| 22 | g.50721735T>G | CA515263341 | SHANK3 | c.3503T>G (p.Leu1168Arg) n.4087T>G c.2555T>G (p.Leu852Arg) c.2045T>G (p.Leu682Arg) c.*2501T>G (n.*2501T>G) c.3899T>G (p.Leu1300Arg) c.3881T>G (p.Leu1294Arg) | |
| 22 | g.50721736G>A | CA515263342 | SHANK3 | c.3504G>A (p.Leu1168=) n.4088G>A c.2556G>A (p.Leu852=) c.2046G>A (p.Leu682=) c.*2502G>A (n.*2502G>A) c.3900G>A (p.Leu1300=) c.3882G>A (p.Leu1294=) | dbSNP gnomAD v4 |
| 22 | g.50721736G>C | CA515263343 | SHANK3 | c.3504G>C (p.Leu1168=) n.4088G>C c.2556G>C (p.Leu852=) c.2046G>C (p.Leu682=) c.*2502G>C (n.*2502G>C) c.3900G>C (p.Leu1300=) c.3882G>C (p.Leu1294=) | |
| 22 | g.50721736G= | CA2411008425 | SHANK3 | c.3504G= (p.Leu1168=) n.4088G= c.2556G= (p.Leu852=) c.2046G= (p.Leu682=) c.*2502G= (n.*2502G=) c.3900G= (p.Leu1300=) c.3882G= (p.Leu1294=) | |
| 22 | g.50721736G>T | CA515263344 | SHANK3 | c.3504G>T (p.Leu1168=) n.4088G>T c.2556G>T (p.Leu852=) c.2046G>T (p.Leu682=) c.*2502G>T (n.*2502G>T) c.3900G>T (p.Leu1300=) c.3882G>T (p.Leu1294=) | gnomAD v4 |
| 22 | g.50721737G>A | CA515263345 | SHANK3 | c.3505G>A (p.Ala1169Thr) n.4089G>A c.2557G>A (p.Ala853Thr) c.2047G>A (p.Ala683Thr) c.*2503G>A (n.*2503G>A) c.3901G>A (p.Ala1301Thr) c.3883G>A (p.Ala1295Thr) | dbSNP |
| 22 | g.50721737G>C | CA515263347 | SHANK3 | c.3505G>C (p.Ala1169Pro) n.4089G>C c.2557G>C (p.Ala853Pro) c.2047G>C (p.Ala683Pro) c.*2503G>C (n.*2503G>C) c.3901G>C (p.Ala1301Pro) c.3883G>C (p.Ala1295Pro) | |
| 22 | g.50721737G= | CA2411008426 | SHANK3 | c.3505G= (p.Ala1169=) n.4089G= c.2557G= (p.Ala853=) c.2047G= (p.Ala683=) c.*2503G= (n.*2503G=) c.3901G= (p.Ala1301=) c.3883G= (p.Ala1295=) | |
| 22 | g.50721737G>T | CA515263346 | SHANK3 | c.3505G>T (p.Ala1169Ser) n.4089G>T c.2557G>T (p.Ala853Ser) c.2047G>T (p.Ala683Ser) c.*2503G>T (n.*2503G>T) c.3901G>T (p.Ala1301Ser) c.3883G>T (p.Ala1295Ser) | |
| 22 | g.50721738C>A | CA515263348 | SHANK3 | c.3506C>A (p.Ala1169Asp) n.4090C>A c.2558C>A (p.Ala853Asp) c.2048C>A (p.Ala683Asp) c.*2504C>A (n.*2504C>A) c.3902C>A (p.Ala1301Asp) c.3884C>A (p.Ala1295Asp) | |
| 22 | g.50721738C= | CA2411008427 | SHANK3 | c.3506C= (p.Ala1169=) n.4090C= c.2558C= (p.Ala853=) c.2048C= (p.Ala683=) c.*2504C= (n.*2504C=) c.3902C= (p.Ala1301=) c.3884C= (p.Ala1295=) | |
| 22 | g.50721738C>G | CA515263349 | SHANK3 | c.3506C>G (p.Ala1169Gly) n.4090C>G c.2558C>G (p.Ala853Gly) c.2048C>G (p.Ala683Gly) c.*2504C>G (n.*2504C>G) c.3902C>G (p.Ala1301Gly) c.3884C>G (p.Ala1295Gly) | |
| 22 | g.50721738C>T | CA10326171 | SHANK3 | c.3506C>T (p.Ala1169Val) n.4090C>T c.2558C>T (p.Ala853Val) c.2048C>T (p.Ala683Val) c.*2504C>T (n.*2504C>T) c.3902C>T (p.Ala1301Val) c.3884C>T (p.Ala1295Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721739C>A | CA515263350 | SHANK3 | c.3507C>A (p.Ala1169=) n.4091C>A c.2559C>A (p.Ala853=) c.2049C>A (p.Ala683=) c.*2505C>A (n.*2505C>A) c.3903C>A (p.Ala1301=) c.3885C>A (p.Ala1295=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721739C= | CA2411008428 | SHANK3 | c.3507C= (p.Ala1169=) n.4091C= c.2559C= (p.Ala853=) c.2049C= (p.Ala683=) c.*2505C= (n.*2505C=) c.3903C= (p.Ala1301=) c.3885C= (p.Ala1295=) | |
| 22 | g.50721739C>G | CA515263351 | SHANK3 | c.3507C>G (p.Ala1169=) n.4091C>G c.2559C>G (p.Ala853=) c.2049C>G (p.Ala683=) c.*2505C>G (n.*2505C>G) c.3903C>G (p.Ala1301=) c.3885C>G (p.Ala1295=) | |
| 22 | g.50721739C>T | CA10326172 | SHANK3 | c.3507C>T (p.Ala1169=) n.4091C>T c.2559C>T (p.Ala853=) c.2049C>T (p.Ala683=) c.*2505C>T (n.*2505C>T) c.3903C>T (p.Ala1301=) c.3885C>T (p.Ala1295=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721740C>A | CA515263352 | SHANK3 | c.3508C>A (p.Arg1170=) n.4092C>A c.2560C>A (p.Arg854=) c.2050C>A (p.Arg684=) c.*2506C>A (n.*2506C>A) c.3904C>A (p.Arg1302=) c.3886C>A (p.Arg1296=) | gnomAD v4 |
| 22 | g.50721740C= | CA2411008429 | SHANK3 | c.3508C= (p.Arg1170=) n.4092C= c.2560C= (p.Arg854=) c.2050C= (p.Arg684=) c.*2506C= (n.*2506C=) c.3904C= (p.Arg1302=) c.3886C= (p.Arg1296=) | |
| 22 | g.50721740C>G | CA515263353 | SHANK3 | c.3508C>G (p.Arg1170Gly) n.4092C>G c.2560C>G (p.Arg854Gly) c.2050C>G (p.Arg684Gly) c.*2506C>G (n.*2506C>G) c.3904C>G (p.Arg1302Gly) c.3886C>G (p.Arg1296Gly) | dbSNP |
| 22 | g.50721740C>T | CA515263354 | SHANK3 | c.3508C>T (p.Arg1170Ter) n.4092C>T c.2560C>T (p.Arg854Ter) c.2050C>T (p.Arg684Ter) c.*2506C>T (n.*2506C>T) c.3904C>T (p.Arg1302Ter) c.3886C>T (p.Arg1296Ter) | ClinVar dbSNP gnomAD v2 |
| 22 | g.50721741G>A | CA10326173 | SHANK3 | c.3509G>A (p.Arg1170Gln) n.4093G>A c.2561G>A (p.Arg854Gln) c.2051G>A (p.Arg684Gln) c.*2507G>A (n.*2507G>A) c.3905G>A (p.Arg1302Gln) c.3887G>A (p.Arg1296Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 22 | g.50721741G>C | CA515263356 | SHANK3 | c.3509G>C (p.Arg1170Pro) n.4093G>C c.2561G>C (p.Arg854Pro) c.2051G>C (p.Arg684Pro) c.*2507G>C (n.*2507G>C) c.3905G>C (p.Arg1302Pro) c.3887G>C (p.Arg1296Pro) | |
| 22 | g.50721741G= | CA2411008430 | SHANK3 | c.3509G= (p.Arg1170=) n.4093G= c.2561G= (p.Arg854=) c.2051G= (p.Arg684=) c.*2507G= (n.*2507G=) c.3905G= (p.Arg1302=) c.3887G= (p.Arg1296=) | |
| 22 | g.50721741G>T | CA515263355 | SHANK3 | c.3509G>T (p.Arg1170Leu) n.4093G>T c.2561G>T (p.Arg854Leu) c.2051G>T (p.Arg684Leu) c.*2507G>T (n.*2507G>T) c.3905G>T (p.Arg1302Leu) c.3887G>T (p.Arg1296Leu) | gnomAD v4 |
| 22 | g.50721742A= | CA2411008431 | SHANK3 | c.3510A= (p.Arg1170=) n.4094A= c.2562A= (p.Arg854=) c.2052A= (p.Arg684=) c.*2508A= (n.*2508A=) c.3906A= (p.Arg1302=) c.3888A= (p.Arg1296=) | |
| 22 | g.50721742A>C | CA515263357 | SHANK3 | c.3510A>C (p.Arg1170=) n.4094A>C c.2562A>C (p.Arg854=) c.2052A>C (p.Arg684=) c.*2508A>C (n.*2508A>C) c.3906A>C (p.Arg1302=) c.3888A>C (p.Arg1296=) | |
| 22 | g.50721742A>G | CA515263358 | SHANK3 | c.3510A>G (p.Arg1170=) n.4094A>G c.2562A>G (p.Arg854=) c.2052A>G (p.Arg684=) c.*2508A>G (n.*2508A>G) c.3906A>G (p.Arg1302=) c.3888A>G (p.Arg1296=) | |
| 22 | g.50721742A>T | CA10326174 | SHANK3 | c.3510A>T (p.Arg1170=) n.4094A>T c.2562A>T (p.Arg854=) c.2052A>T (p.Arg684=) c.*2508A>T (n.*2508A>T) c.3906A>T (p.Arg1302=) c.3888A>T (p.Arg1296=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721743A>C | CA515263359 | SHANK3 | c.3511A>C (p.Ile1171Leu) n.4095A>C c.2563A>C (p.Ile855Leu) c.2053A>C (p.Ile685Leu) c.*2509A>C (n.*2509A>C) c.3907A>C (p.Ile1303Leu) c.3889A>C (p.Ile1297Leu) | |
| 22 | g.50721743A>G | CA515263360 | SHANK3 | c.3511A>G (p.Ile1171Val) n.4095A>G c.2563A>G (p.Ile855Val) c.2053A>G (p.Ile685Val) c.*2509A>G (n.*2509A>G) c.3907A>G (p.Ile1303Val) c.3889A>G (p.Ile1297Val) | |
| 22 | g.50721743A>T | CA515263361 | SHANK3 | c.3511A>T (p.Ile1171Phe) n.4095A>T c.2563A>T (p.Ile855Phe) c.2053A>T (p.Ile685Phe) c.*2509A>T (n.*2509A>T) c.3907A>T (p.Ile1303Phe) c.3889A>T (p.Ile1297Phe) | |
| 22 | g.50721744T>A | CA515263362 | SHANK3 | c.3512T>A (p.Ile1171Asn) n.4096T>A c.2564T>A (p.Ile855Asn) c.2054T>A (p.Ile685Asn) c.*2510T>A (n.*2510T>A) c.3908T>A (p.Ile1303Asn) c.3890T>A (p.Ile1297Asn) | |
| 22 | g.50721744T>C | CA515263363 | SHANK3 | c.3512T>C (p.Ile1171Thr) n.4096T>C c.2564T>C (p.Ile855Thr) c.2054T>C (p.Ile685Thr) c.*2510T>C (n.*2510T>C) c.3908T>C (p.Ile1303Thr) c.3890T>C (p.Ile1297Thr) | |
| 22 | g.50721744T>G | CA515263364 | SHANK3 | c.3512T>G (p.Ile1171Ser) n.4096T>G c.2564T>G (p.Ile855Ser) c.2054T>G (p.Ile685Ser) c.*2510T>G (n.*2510T>G) c.3908T>G (p.Ile1303Ser) c.3890T>G (p.Ile1297Ser) | |
| 22 | g.50721745T>A | CA515263365 | SHANK3 | c.3513T>A (p.Ile1171=) n.4097T>A c.2565T>A (p.Ile855=) c.2055T>A (p.Ile685=) c.*2511T>A (n.*2511T>A) c.3909T>A (p.Ile1303=) c.3891T>A (p.Ile1297=) | |
| 22 | g.50721745T>C | CA515263366 | SHANK3 | c.3513T>C (p.Ile1171=) n.4097T>C c.2565T>C (p.Ile855=) c.2055T>C (p.Ile685=) c.*2511T>C (n.*2511T>C) c.3909T>C (p.Ile1303=) c.3891T>C (p.Ile1297=) | |
| 22 | g.50721745T>G | CA515263367 | SHANK3 | c.3513T>G (p.Ile1171Met) n.4097T>G c.2565T>G (p.Ile855Met) c.2055T>G (p.Ile685Met) c.*2511T>G (n.*2511T>G) c.3909T>G (p.Ile1303Met) c.3891T>G (p.Ile1297Met) | |
| 22 | g.50721746G>A | CA515263370 | SHANK3 | c.3514G>A (p.Gly1172Arg) n.4098G>A c.2566G>A (p.Gly856Arg) c.2056G>A (p.Gly686Arg) c.*2512G>A (n.*2512G>A) c.3910G>A (p.Gly1304Arg) c.3892G>A (p.Gly1298Arg) | |
| 22 | g.50721746G>C | CA515263368 | SHANK3 | c.3514G>C (p.Gly1172Arg) n.4098G>C c.2566G>C (p.Gly856Arg) c.2056G>C (p.Gly686Arg) c.*2512G>C (n.*2512G>C) c.3910G>C (p.Gly1304Arg) c.3892G>C (p.Gly1298Arg) | |
| 22 | g.50721746G= | CA2411008432 | SHANK3 | c.3514G= (p.Gly1172=) n.4098G= c.2566G= (p.Gly856=) c.2056G= (p.Gly686=) c.*2512G= (n.*2512G=) c.3910G= (p.Gly1304=) c.3892G= (p.Gly1298=) | |
| 22 | g.50721746G>T | CA515263369 | SHANK3 | c.3514G>T (p.Gly1172Trp) n.4098G>T c.2566G>T (p.Gly856Trp) c.2056G>T (p.Gly686Trp) c.*2512G>T (n.*2512G>T) c.3910G>T (p.Gly1304Trp) c.3892G>T (p.Gly1298Trp) | dbSNP gnomAD v4 |
| 22 | g.50721747G>A | CA515263371 | SHANK3 | c.3515G>A (p.Gly1172Glu) n.4099G>A c.2567G>A (p.Gly856Glu) c.2057G>A (p.Gly686Glu) c.*2513G>A (n.*2513G>A) c.3911G>A (p.Gly1304Glu) c.3893G>A (p.Gly1298Glu) | |
| 22 | g.50721747G>C | CA515263372 | SHANK3 | c.3515G>C (p.Gly1172Ala) n.4099G>C c.2567G>C (p.Gly856Ala) c.2057G>C (p.Gly686Ala) c.*2513G>C (n.*2513G>C) c.3911G>C (p.Gly1304Ala) c.3893G>C (p.Gly1298Ala) | |
| 22 | g.50721747G>T | CA515263373 | SHANK3 | c.3515G>T (p.Gly1172Val) n.4099G>T c.2567G>T (p.Gly856Val) c.2057G>T (p.Gly686Val) c.*2513G>T (n.*2513G>T) c.3911G>T (p.Gly1304Val) c.3893G>T (p.Gly1298Val) | gnomAD v4 |
| 22 | g.50721748G>A | CA10326175 | SHANK3 | c.3516G>A (p.Gly1172=) n.4100G>A c.2568G>A (p.Gly856=) c.2058G>A (p.Gly686=) c.*2514G>A (n.*2514G>A) c.3912G>A (p.Gly1304=) c.3894G>A (p.Gly1298=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721748G>C | CA515263374 | SHANK3 | c.3516G>C (p.Gly1172=) n.4100G>C c.2568G>C (p.Gly856=) c.2058G>C (p.Gly686=) c.*2514G>C (n.*2514G>C) c.3912G>C (p.Gly1304=) c.3894G>C (p.Gly1298=) | |
| 22 | g.50721748G= | CA2411008433 | SHANK3 | c.3516G= (p.Gly1172=) n.4100G= c.2568G= (p.Gly856=) c.2058G= (p.Gly686=) c.*2514G= (n.*2514G=) c.3912G= (p.Gly1304=) c.3894G= (p.Gly1298=) | |
| 22 | g.50721748G>T | CA515263375 | SHANK3 | c.3516G>T (p.Gly1172=) n.4100G>T c.2568G>T (p.Gly856=) c.2058G>T (p.Gly686=) c.*2514G>T (n.*2514G>T) c.3912G>T (p.Gly1304=) c.3894G>T (p.Gly1298=) | |
| 22 | g.50721749T>A | CA515263376 | SHANK3 | c.3517T>A (p.Leu1173Met) n.4101T>A c.2569T>A (p.Leu857Met) c.2059T>A (p.Leu687Met) c.*2515T>A (n.*2515T>A) c.3913T>A (p.Leu1305Met) c.3895T>A (p.Leu1299Met) | |
| 22 | g.50721749T>C | CA515263377 | SHANK3 | c.3517T>C (p.Leu1173=) n.4101T>C c.2569T>C (p.Leu857=) c.2059T>C (p.Leu687=) c.*2515T>C (n.*2515T>C) c.3913T>C (p.Leu1305=) c.3895T>C (p.Leu1299=) | |
| 22 | g.50721749T>G | CA515263378 | SHANK3 | c.3517T>G (p.Leu1173Val) n.4101T>G c.2569T>G (p.Leu857Val) c.2059T>G (p.Leu687Val) c.*2515T>G (n.*2515T>G) c.3913T>G (p.Leu1305Val) c.3895T>G (p.Leu1299Val) | |
| 22 | g.50721750T>A | CA515263379 | SHANK3 | c.3518T>A (p.Leu1173Ter) n.4102T>A c.2570T>A (p.Leu857Ter) c.2060T>A (p.Leu687Ter) c.*2516T>A (n.*2516T>A) c.3914T>A (p.Leu1305Ter) c.3896T>A (p.Leu1299Ter) | |
| 22 | g.50721750T>C | CA515263380 | SHANK3 | c.3518T>C (p.Leu1173Ser) n.4102T>C c.2570T>C (p.Leu857Ser) c.2060T>C (p.Leu687Ser) c.*2516T>C (n.*2516T>C) c.3914T>C (p.Leu1305Ser) c.3896T>C (p.Leu1299Ser) | |
| 22 | g.50721750T>G | CA515263381 | SHANK3 | c.3518T>G (p.Leu1173Trp) n.4102T>G c.2570T>G (p.Leu857Trp) c.2060T>G (p.Leu687Trp) c.*2516T>G (n.*2516T>G) c.3914T>G (p.Leu1305Trp) c.3896T>G (p.Leu1299Trp) | |
| 22 | g.50721751G>A | CA515263384 | SHANK3 | c.3519G>A (p.Leu1173=) n.4103G>A c.2571G>A (p.Leu857=) c.2061G>A (p.Leu687=) c.*2517G>A (n.*2517G>A) c.3915G>A (p.Leu1305=) c.3897G>A (p.Leu1299=) | |
| 22 | g.50721751G>C | CA515263383 | SHANK3 | c.3519G>C (p.Leu1173Phe) n.4103G>C c.2571G>C (p.Leu857Phe) c.2061G>C (p.Leu687Phe) c.*2517G>C (n.*2517G>C) c.3915G>C (p.Leu1305Phe) c.3897G>C (p.Leu1299Phe) | |
| 22 | g.50721751G>T | CA515263382 | SHANK3 | c.3519G>T (p.Leu1173Phe) n.4103G>T c.2571G>T (p.Leu857Phe) c.2061G>T (p.Leu687Phe) c.*2517G>T (n.*2517G>T) c.3915G>T (p.Leu1305Phe) c.3897G>T (p.Leu1299Phe) | gnomAD v4 |
| 22 | g.50721752G>A | CA515263385 | SHANK3 | c.3520G>A (p.Val1174Met) n.4104G>A c.2572G>A (p.Val858Met) c.2062G>A (p.Val688Met) c.*2518G>A (n.*2518G>A) c.3916G>A (p.Val1306Met) c.3898G>A (p.Val1300Met) | |
| 22 | g.50721752G>C | CA515263386 | SHANK3 | c.3520G>C (p.Val1174Leu) n.4104G>C c.2572G>C (p.Val858Leu) c.2062G>C (p.Val688Leu) c.*2518G>C (n.*2518G>C) c.3916G>C (p.Val1306Leu) c.3898G>C (p.Val1300Leu) | dbSNP |
| 22 | g.50721752G= | CA2411008434 | SHANK3 | c.3520G= (p.Val1174=) n.4104G= c.2572G= (p.Val858=) c.2062G= (p.Val688=) c.*2518G= (n.*2518G=) c.3916G= (p.Val1306=) c.3898G= (p.Val1300=) | |
| 22 | g.50721752G>T | CA10326176 | SHANK3 | c.3520G>T (p.Val1174Leu) n.4104G>T c.2572G>T (p.Val858Leu) c.2062G>T (p.Val688Leu) c.*2518G>T (n.*2518G>T) c.3916G>T (p.Val1306Leu) c.3898G>T (p.Val1300Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721753T>A | CA515263387 | SHANK3 | c.3521T>A (p.Val1174Glu) n.4105T>A c.2573T>A (p.Val858Glu) c.2063T>A (p.Val688Glu) c.*2519T>A (n.*2519T>A) c.3917T>A (p.Val1306Glu) c.3899T>A (p.Val1300Glu) | |
| 22 | g.50721753T>C | CA515263388 | SHANK3 | c.3521T>C (p.Val1174Ala) n.4105T>C c.2573T>C (p.Val858Ala) c.2063T>C (p.Val688Ala) c.*2519T>C (n.*2519T>C) c.3917T>C (p.Val1306Ala) c.3899T>C (p.Val1300Ala) | |
| 22 | g.50721753T>G | CA515263389 | SHANK3 | c.3521T>G (p.Val1174Gly) n.4105T>G c.2573T>G (p.Val858Gly) c.2063T>G (p.Val688Gly) c.*2519T>G (n.*2519T>G) c.3917T>G (p.Val1306Gly) c.3899T>G (p.Val1300Gly) | |
| 22 | g.50721754G>A | CA515263390 | SHANK3 | c.3522G>A (p.Val1174=) n.4106G>A c.2574G>A (p.Val858=) c.2064G>A (p.Val688=) c.*2520G>A (n.*2520G>A) c.3918G>A (p.Val1306=) c.3900G>A (p.Val1300=) | |
| 22 | g.50721754G>C | CA515263391 | SHANK3 | c.3522G>C (p.Val1174=) n.4106G>C c.2574G>C (p.Val858=) c.2064G>C (p.Val688=) c.*2520G>C (n.*2520G>C) c.3918G>C (p.Val1306=) c.3900G>C (p.Val1300=) | |
| 22 | g.50721754G>T | CA515263392 | SHANK3 | c.3522G>T (p.Val1174=) n.4106G>T c.2574G>T (p.Val858=) c.2064G>T (p.Val688=) c.*2520G>T (n.*2520G>T) c.3918G>T (p.Val1306=) c.3900G>T (p.Val1300=) | |
| 22 | g.50721755C>A | CA515263393 | SHANK3 | c.3523C>A (p.Pro1175Thr) n.4107C>A c.2575C>A (p.Pro859Thr) c.2065C>A (p.Pro689Thr) c.*2521C>A (n.*2521C>A) c.3919C>A (p.Pro1307Thr) c.3901C>A (p.Pro1301Thr) | gnomAD v4 |
| 22 | g.50721755C>G | CA515263394 | SHANK3 | c.3523C>G (p.Pro1175Ala) n.4107C>G c.2575C>G (p.Pro859Ala) c.2065C>G (p.Pro689Ala) c.*2521C>G (n.*2521C>G) c.3919C>G (p.Pro1307Ala) c.3901C>G (p.Pro1301Ala) | |
| 22 | g.50721755C>T | CA515263395 | SHANK3 | c.3523C>T (p.Pro1175Ser) n.4107C>T c.2575C>T (p.Pro859Ser) c.2065C>T (p.Pro689Ser) c.*2521C>T (n.*2521C>T) c.3919C>T (p.Pro1307Ser) c.3901C>T (p.Pro1301Ser) | gnomAD v4 |
| 22 | g.50721756C>A | CA515263396 | SHANK3 | c.3524C>A (p.Pro1175Gln) n.4108C>A c.2576C>A (p.Pro859Gln) c.2066C>A (p.Pro689Gln) c.*2522C>A (n.*2522C>A) c.3920C>A (p.Pro1307Gln) c.3902C>A (p.Pro1301Gln) | |
| 22 | g.50721756C= | CA2411008435 | SHANK3 | c.3524C= (p.Pro1175=) n.4108C= c.2576C= (p.Pro859=) c.2066C= (p.Pro689=) c.*2522C= (n.*2522C=) c.3920C= (p.Pro1307=) c.3902C= (p.Pro1301=) | |
| 22 | g.50721756C>G | CA515263397 | SHANK3 | c.3524C>G (p.Pro1175Arg) n.4108C>G c.2576C>G (p.Pro859Arg) c.2066C>G (p.Pro689Arg) c.*2522C>G (n.*2522C>G) c.3920C>G (p.Pro1307Arg) c.3902C>G (p.Pro1301Arg) | |
| 22 | g.50721756C>T | CA10326177 | SHANK3 | c.3524C>T (p.Pro1175Leu) n.4108C>T c.2576C>T (p.Pro859Leu) c.2066C>T (p.Pro689Leu) c.*2522C>T (n.*2522C>T) c.3920C>T (p.Pro1307Leu) c.3902C>T (p.Pro1301Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721757A>C | CA515263398 | SHANK3 | c.3525A>C (p.Pro1175=) n.4109A>C c.2577A>C (p.Pro859=) c.2067A>C (p.Pro689=) c.*2523A>C (n.*2523A>C) c.3921A>C (p.Pro1307=) c.3903A>C (p.Pro1301=) | |
| 22 | g.50721757A>G | CA515263400 | SHANK3 | c.3525A>G (p.Pro1175=) n.4109A>G c.2577A>G (p.Pro859=) c.2067A>G (p.Pro689=) c.*2523A>G (n.*2523A>G) c.3921A>G (p.Pro1307=) c.3903A>G (p.Pro1301=) | gnomAD v4 |
| 22 | g.50721757A>T | CA515263399 | SHANK3 | c.3525A>T (p.Pro1175=) n.4109A>T c.2577A>T (p.Pro859=) c.2067A>T (p.Pro689=) c.*2523A>T (n.*2523A>T) c.3921A>T (p.Pro1307=) c.3903A>T (p.Pro1301=) | |
| 22 | g.50721758C>A | CA515263401 | SHANK3 | c.3526C>A (p.Pro1176Thr) n.4110C>A c.2578C>A (p.Pro860Thr) c.2068C>A (p.Pro690Thr) c.*2524C>A (n.*2524C>A) c.3922C>A (p.Pro1308Thr) c.3904C>A (p.Pro1302Thr) | |
| 22 | g.50721758C= | CA2411008436 | SHANK3 | c.3526C= (p.Pro1176=) n.4110C= c.2578C= (p.Pro860=) c.2068C= (p.Pro690=) c.*2524C= (n.*2524C=) c.3922C= (p.Pro1308=) c.3904C= (p.Pro1302=) | |
| 22 | g.50721758C>G | CA515263402 | SHANK3 | c.3526C>G (p.Pro1176Ala) n.4110C>G c.2578C>G (p.Pro860Ala) c.2068C>G (p.Pro690Ala) c.*2524C>G (n.*2524C>G) c.3922C>G (p.Pro1308Ala) c.3904C>G (p.Pro1302Ala) | |
| 22 | g.50721758C>T | CA515263403 | SHANK3 | c.3526C>T (p.Pro1176Ser) n.4110C>T c.2578C>T (p.Pro860Ser) c.2068C>T (p.Pro690Ser) c.*2524C>T (n.*2524C>T) c.3922C>T (p.Pro1308Ser) c.3904C>T (p.Pro1302Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721762del | CA645619944 | SHANK3 | c.3530del (p.Pro1177LeufsTer?) n.4114del c.2582del (p.Pro861LeufsTer?) c.2072del (p.Pro691LeufsTer?) c.*2528del (n.*2528del) c.3926del (p.Pro1309LeufsTer?) c.3908del (p.Pro1303LeufsTer?) | COSMIC COSMIC |
| 22 | g.50721759C>A | CA515263404 | SHANK3 | c.3527C>A (p.Pro1176His) n.4111C>A c.2579C>A (p.Pro860His) c.2069C>A (p.Pro690His) c.*2525C>A (n.*2525C>A) c.3923C>A (p.Pro1308His) c.3905C>A (p.Pro1302His) | |
| 22 | g.50721759C= | CA2411008437 | SHANK3 | c.3527C= (p.Pro1176=) n.4111C= c.2579C= (p.Pro860=) c.2069C= (p.Pro690=) c.*2525C= (n.*2525C=) c.3923C= (p.Pro1308=) c.3905C= (p.Pro1302=) | |
| 22 | g.50721759C>G | CA515263405 | SHANK3 | c.3527C>G (p.Pro1176Arg) n.4111C>G c.2579C>G (p.Pro860Arg) c.2069C>G (p.Pro690Arg) c.*2525C>G (n.*2525C>G) c.3923C>G (p.Pro1308Arg) c.3905C>G (p.Pro1302Arg) | |
| 22 | g.50721759C>T | CA515263406 | SHANK3 | c.3527C>T (p.Pro1176Leu) n.4111C>T c.2579C>T (p.Pro860Leu) c.2069C>T (p.Pro690Leu) c.*2525C>T (n.*2525C>T) c.3923C>T (p.Pro1308Leu) c.3905C>T (p.Pro1302Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721760C>A | CA515263407 | SHANK3 | c.3528C>A (p.Pro1176=) n.4112C>A c.2580C>A (p.Pro860=) c.2070C>A (p.Pro690=) c.*2526C>A (n.*2526C>A) c.3924C>A (p.Pro1308=) c.3906C>A (p.Pro1302=) | gnomAD v4 |
| 22 | g.50721760C= | CA2411008438 | SHANK3 | c.3528C= (p.Pro1176=) n.4112C= c.2580C= (p.Pro860=) c.2070C= (p.Pro690=) c.*2526C= (n.*2526C=) c.3924C= (p.Pro1308=) c.3906C= (p.Pro1302=) | |
| 22 | g.50721760C>G | CA515263408 | SHANK3 | c.3528C>G (p.Pro1176=) n.4112C>G c.2580C>G (p.Pro860=) c.2070C>G (p.Pro690=) c.*2526C>G (n.*2526C>G) c.3924C>G (p.Pro1308=) c.3906C>G (p.Pro1302=) | |
| 22 | g.50721760C>T | CA515263409 | SHANK3 | c.3528C>T (p.Pro1176=) n.4112C>T c.2580C>T (p.Pro860=) c.2070C>T (p.Pro690=) c.*2526C>T (n.*2526C>T) c.3924C>T (p.Pro1308=) c.3906C>T (p.Pro1302=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721761C>A | CA515263411 | SHANK3 | c.3529C>A (p.Pro1177Thr) n.4113C>A c.2581C>A (p.Pro861Thr) c.2071C>A (p.Pro691Thr) c.*2527C>A (n.*2527C>A) c.3925C>A (p.Pro1309Thr) c.3907C>A (p.Pro1303Thr) | |
| 22 | g.50721761C>G | CA515263412 | SHANK3 | c.3529C>G (p.Pro1177Ala) n.4113C>G c.2581C>G (p.Pro861Ala) c.2071C>G (p.Pro691Ala) c.*2527C>G (n.*2527C>G) c.3925C>G (p.Pro1309Ala) c.3907C>G (p.Pro1303Ala) | |
| 22 | g.50721761C>T | CA515263410 | SHANK3 | c.3529C>T (p.Pro1177Ser) n.4113C>T c.2581C>T (p.Pro861Ser) c.2071C>T (p.Pro691Ser) c.*2527C>T (n.*2527C>T) c.3925C>T (p.Pro1309Ser) c.3907C>T (p.Pro1303Ser) | |
| 22 | g.50721762C>A | CA515263413 | SHANK3 | c.3530C>A (p.Pro1177His) n.4114C>A c.2582C>A (p.Pro861His) c.2072C>A (p.Pro691His) c.*2528C>A (n.*2528C>A) c.3926C>A (p.Pro1309His) c.3908C>A (p.Pro1303His) | |
| 22 | g.50721762C>G | CA515263414 | SHANK3 | c.3530C>G (p.Pro1177Arg) n.4114C>G c.2582C>G (p.Pro861Arg) c.2072C>G (p.Pro691Arg) c.*2528C>G (n.*2528C>G) c.3926C>G (p.Pro1309Arg) c.3908C>G (p.Pro1303Arg) | |
| 22 | g.50721762C>T | CA515263415 | SHANK3 | c.3530C>T (p.Pro1177Leu) n.4114C>T c.2582C>T (p.Pro861Leu) c.2072C>T (p.Pro691Leu) c.*2528C>T (n.*2528C>T) c.3926C>T (p.Pro1309Leu) c.3908C>T (p.Pro1303Leu) | |
| 22 | g.50721763T>A | CA515263416 | SHANK3 | c.3531T>A (p.Pro1177=) n.4115T>A c.2583T>A (p.Pro861=) c.2073T>A (p.Pro691=) c.*2529T>A (n.*2529T>A) c.3927T>A (p.Pro1309=) c.3909T>A (p.Pro1303=) | |
| 22 | g.50721763T>C | CA515263417 | SHANK3 | c.3531T>C (p.Pro1177=) n.4115T>C c.2583T>C (p.Pro861=) c.2073T>C (p.Pro691=) c.*2529T>C (n.*2529T>C) c.3927T>C (p.Pro1309=) c.3909T>C (p.Pro1303=) | gnomAD v4 |
| 22 | g.50721763T>G | CA515263418 | SHANK3 | c.3531T>G (p.Pro1177=) n.4115T>G c.2583T>G (p.Pro861=) c.2073T>G (p.Pro691=) c.*2529T>G (n.*2529T>G) c.3927T>G (p.Pro1309=) c.3909T>G (p.Pro1303=) | |
| 22 | g.50721763_50721764delinsTG | CA2411008439 | SHANK3 | c.3531_3532delinsTG (p.Pro1177=) n.4115_4116delinsTG c.2583_2584delinsTG (p.Pro861=) c.2073_2074delinsTG (p.Pro691=) c.*2529_*2530delinsTG (n.*2529_*2530delinsTG) c.3927_3928delinsTG (p.Pro1309=) c.3909_3910delinsTG (p.Pro1303=) | |
| 22 | g.50721764del | CA10575579 | SHANK3 | c.3532del (p.Glu1178LysfsTer?) n.4116del c.2584del (p.Glu862LysfsTer?) c.2074del (p.Glu692LysfsTer?) c.*2530del (n.*2530del) c.3928del (p.Glu1310LysfsTer?) c.3910del (p.Glu1304LysfsTer?) | ClinVar dbSNP |
| 22 | g.50721764G>A | CA515263419 | SHANK3 | c.3532G>A (p.Glu1178Lys) n.4116G>A c.2584G>A (p.Glu862Lys) c.2074G>A (p.Glu692Lys) c.*2530G>A (n.*2530G>A) c.3928G>A (p.Glu1310Lys) c.3910G>A (p.Glu1304Lys) | |
| 22 | g.50721764G>C | CA515263420 | SHANK3 | c.3532G>C (p.Glu1178Gln) n.4116G>C c.2584G>C (p.Glu862Gln) c.2074G>C (p.Glu692Gln) c.*2530G>C (n.*2530G>C) c.3928G>C (p.Glu1310Gln) c.3910G>C (p.Glu1304Gln) | gnomAD v4 |
| 22 | g.50721764G>T | CA515263421 | SHANK3 | c.3532G>T (p.Glu1178Ter) n.4116G>T c.2584G>T (p.Glu862Ter) c.2074G>T (p.Glu692Ter) c.*2530G>T (n.*2530G>T) c.3928G>T (p.Glu1310Ter) c.3910G>T (p.Glu1304Ter) | |
| 22 | g.50721765A>C | CA515263422 | SHANK3 | c.3533A>C (p.Glu1178Ala) n.4117A>C c.2585A>C (p.Glu862Ala) c.2075A>C (p.Glu692Ala) c.*2531A>C (n.*2531A>C) c.3929A>C (p.Glu1310Ala) c.3911A>C (p.Glu1304Ala) | |
| 22 | g.50721765A>G | CA515263423 | SHANK3 | c.3533A>G (p.Glu1178Gly) n.4117A>G c.2585A>G (p.Glu862Gly) c.2075A>G (p.Glu692Gly) c.*2531A>G (n.*2531A>G) c.3929A>G (p.Glu1310Gly) c.3911A>G (p.Glu1304Gly) | |
| 22 | g.50721765A>T | CA515263424 | SHANK3 | c.3533A>T (p.Glu1178Val) n.4117A>T c.2585A>T (p.Glu862Val) c.2075A>T (p.Glu692Val) c.*2531A>T (n.*2531A>T) c.3929A>T (p.Glu1310Val) c.3911A>T (p.Glu1304Val) | |
| 22 | g.50721765_50721767delinsAAG | CA2411008440 | SHANK3 | c.3533_3535delinsAAG (p.Glu1178=) n.4117_4119delinsAAG c.2585_2587delinsAAG (p.Glu862=) c.2075_2077delinsAAG (p.Glu692=) c.*2531_*2533delinsAAG (n.*2531_*2533delinsAAG) c.3929_3931delinsAAG (p.Glu1310=) c.3911_3913delinsAAG (p.Glu1304=) | |
| 22 | g.50721766A>C | CA515263427 | SHANK3 | c.3534A>C (p.Glu1178Asp) n.4118A>C c.2586A>C (p.Glu862Asp) c.2076A>C (p.Glu692Asp) c.*2532A>C (n.*2532A>C) c.3930A>C (p.Glu1310Asp) c.3912A>C (p.Glu1304Asp) | |
| 22 | g.50721766A>G | CA515263426 | SHANK3 | c.3534A>G (p.Glu1178=) n.4118A>G c.2586A>G (p.Glu862=) c.2076A>G (p.Glu692=) c.*2532A>G (n.*2532A>G) c.3930A>G (p.Glu1310=) c.3912A>G (p.Glu1304=) | dbSNP gnomAD v4 |
| 22 | g.50721766A>T | CA515263425 | SHANK3 | c.3534A>T (p.Glu1178Asp) n.4118A>T c.2586A>T (p.Glu862Asp) c.2076A>T (p.Glu692Asp) c.*2532A>T (n.*2532A>T) c.3930A>T (p.Glu1310Asp) c.3912A>T (p.Glu1304Asp) | |
| 22 | g.50721768_50721769del | CA915951511 | SHANK3 | c.3536_3537del (p.Glu1179ValfsTer?) n.4120_4121del c.2588_2589del (p.Glu863ValfsTer?) c.2078_2079del (p.Glu693ValfsTer?) c.*2534_*2535del (n.*2534_*2535del) c.3932_3933del (p.Glu1311ValfsTer?) c.3914_3915del (p.Glu1305ValfsTer?) | ClinVar dbSNP |
| 22 | g.50721767G>A | CA515263428 | SHANK3 | c.3535G>A (p.Glu1179Lys) n.4119G>A c.2587G>A (p.Glu863Lys) c.2077G>A (p.Glu693Lys) c.*2533G>A (n.*2533G>A) c.3931G>A (p.Glu1311Lys) c.3913G>A (p.Glu1305Lys) | |
| 22 | g.50721767G>C | CA515263429 | SHANK3 | c.3535G>C (p.Glu1179Gln) n.4119G>C c.2587G>C (p.Glu863Gln) c.2077G>C (p.Glu693Gln) c.*2533G>C (n.*2533G>C) c.3931G>C (p.Glu1311Gln) c.3913G>C (p.Glu1305Gln) | gnomAD v4 |
| 22 | g.50721767G>T | CA515263430 | SHANK3 | c.3535G>T (p.Glu1179Ter) n.4119G>T c.2587G>T (p.Glu863Ter) c.2077G>T (p.Glu693Ter) c.*2533G>T (n.*2533G>T) c.3931G>T (p.Glu1311Ter) c.3913G>T (p.Glu1305Ter) | gnomAD v4 |
| 22 | g.50721768A= | CA2411008441 | SHANK3 | c.3536A= (p.Glu1179=) n.4120A= c.2588A= (p.Glu863=) c.2078A= (p.Glu693=) c.*2534A= (n.*2534A=) c.3932A= (p.Glu1311=) c.3914A= (p.Glu1305=) | |
| 22 | g.50721768A>C | CA515263431 | SHANK3 | c.3536A>C (p.Glu1179Ala) n.4120A>C c.2588A>C (p.Glu863Ala) c.2078A>C (p.Glu693Ala) c.*2534A>C (n.*2534A>C) c.3932A>C (p.Glu1311Ala) c.3914A>C (p.Glu1305Ala) | dbSNP gnomAD v4 |
| 22 | g.50721768A>G | CA515263432 | SHANK3 | c.3536A>G (p.Glu1179Gly) n.4120A>G c.2588A>G (p.Glu863Gly) c.2078A>G (p.Glu693Gly) c.*2534A>G (n.*2534A>G) c.3932A>G (p.Glu1311Gly) c.3914A>G (p.Glu1305Gly) | |
| 22 | g.50721768A>T | CA515263433 | SHANK3 | c.3536A>T (p.Glu1179Val) n.4120A>T c.2588A>T (p.Glu863Val) c.2078A>T (p.Glu693Val) c.*2534A>T (n.*2534A>T) c.3932A>T (p.Glu1311Val) c.3914A>T (p.Glu1305Val) | |
| 22 | g.50721769G>A | CA515263434 | SHANK3 | c.3537G>A (p.Glu1179=) n.4121G>A c.2589G>A (p.Glu863=) c.2079G>A (p.Glu693=) c.*2535G>A (n.*2535G>A) c.3933G>A (p.Glu1311=) c.3915G>A (p.Glu1305=) | |
| 22 | g.50721769G>C | CA515263435 | SHANK3 | c.3537G>C (p.Glu1179Asp) n.4121G>C c.2589G>C (p.Glu863Asp) c.2079G>C (p.Glu693Asp) c.*2535G>C (n.*2535G>C) c.3933G>C (p.Glu1311Asp) c.3915G>C (p.Glu1305Asp) | |
| 22 | g.50721769G= | CA2411008442 | SHANK3 | c.3537G= (p.Glu1179=) n.4121G= c.2589G= (p.Glu863=) c.2079G= (p.Glu693=) c.*2535G= (n.*2535G=) c.3933G= (p.Glu1311=) c.3915G= (p.Glu1305=) | |
| 22 | g.50721769G>T | CA515263436 | SHANK3 | c.3537G>T (p.Glu1179Asp) n.4121G>T c.2589G>T (p.Glu863Asp) c.2079G>T (p.Glu693Asp) c.*2535G>T (n.*2535G>T) c.3933G>T (p.Glu1311Asp) c.3915G>T (p.Glu1305Asp) | dbSNP gnomAD v4 |
| 22 | g.50721770T>A | CA515263437 | SHANK3 | c.3538T>A (p.Phe1180Ile) n.4122T>A c.2590T>A (p.Phe864Ile) c.2080T>A (p.Phe694Ile) c.*2536T>A (n.*2536T>A) c.3934T>A (p.Phe1312Ile) c.3916T>A (p.Phe1306Ile) | |
| 22 | g.50721770T>C | CA515263438 | SHANK3 | c.3538T>C (p.Phe1180Leu) n.4122T>C c.2590T>C (p.Phe864Leu) c.2080T>C (p.Phe694Leu) c.*2536T>C (n.*2536T>C) c.3934T>C (p.Phe1312Leu) c.3916T>C (p.Phe1306Leu) | |
| 22 | g.50721770T>G | CA515263439 | SHANK3 | c.3538T>G (p.Phe1180Val) n.4122T>G c.2590T>G (p.Phe864Val) c.2080T>G (p.Phe694Val) c.*2536T>G (n.*2536T>G) c.3934T>G (p.Phe1312Val) c.3916T>G (p.Phe1306Val) | |
| 22 | g.50721771T>A | CA515263442 | SHANK3 | c.3539T>A (p.Phe1180Tyr) n.4123T>A c.2591T>A (p.Phe864Tyr) c.2081T>A (p.Phe694Tyr) c.*2537T>A (n.*2537T>A) c.3935T>A (p.Phe1312Tyr) c.3917T>A (p.Phe1306Tyr) | gnomAD v4 |
| 22 | g.50721771T>C | CA515263441 | SHANK3 | c.3539T>C (p.Phe1180Ser) n.4123T>C c.2591T>C (p.Phe864Ser) c.2081T>C (p.Phe694Ser) c.*2537T>C (n.*2537T>C) c.3935T>C (p.Phe1312Ser) c.3917T>C (p.Phe1306Ser) | |
| 22 | g.50721771T>G | CA515263440 | SHANK3 | c.3539T>G (p.Phe1180Cys) n.4123T>G c.2591T>G (p.Phe864Cys) c.2081T>G (p.Phe694Cys) c.*2537T>G (n.*2537T>G) c.3935T>G (p.Phe1312Cys) c.3917T>G (p.Phe1306Cys) | |
| 22 | g.50721772T>A | CA515263443 | SHANK3 | c.3540T>A (p.Phe1180Leu) n.4124T>A c.2592T>A (p.Phe864Leu) c.2082T>A (p.Phe694Leu) c.*2538T>A (n.*2538T>A) c.3936T>A (p.Phe1312Leu) c.3918T>A (p.Phe1306Leu) | |
| 22 | g.50721772T>C | CA515263445 | SHANK3 | c.3540T>C (p.Phe1180=) n.4124T>C c.2592T>C (p.Phe864=) c.2082T>C (p.Phe694=) c.*2538T>C (n.*2538T>C) c.3936T>C (p.Phe1312=) c.3918T>C (p.Phe1306=) | |
| 22 | g.50721772T>G | CA515263444 | SHANK3 | c.3540T>G (p.Phe1180Leu) n.4124T>G c.2592T>G (p.Phe864Leu) c.2082T>G (p.Phe694Leu) c.*2538T>G (n.*2538T>G) c.3936T>G (p.Phe1312Leu) c.3918T>G (p.Phe1306Leu) | |
| 22 | g.50721773G>A | CA515263446 | SHANK3 | c.3541G>A (p.Ala1181Thr) n.4125G>A c.2593G>A (p.Ala865Thr) c.2083G>A (p.Ala695Thr) c.*2539G>A (n.*2539G>A) c.3937G>A (p.Ala1313Thr) c.3919G>A (p.Ala1307Thr) | |
| 22 | g.50721773G>C | CA515263448 | SHANK3 | c.3541G>C (p.Ala1181Pro) n.4125G>C c.2593G>C (p.Ala865Pro) c.2083G>C (p.Ala695Pro) c.*2539G>C (n.*2539G>C) c.3937G>C (p.Ala1313Pro) c.3919G>C (p.Ala1307Pro) | |
| 22 | g.50721773G>T | CA515263447 | SHANK3 | c.3541G>T (p.Ala1181Ser) n.4125G>T c.2593G>T (p.Ala865Ser) c.2083G>T (p.Ala695Ser) c.*2539G>T (n.*2539G>T) c.3937G>T (p.Ala1313Ser) c.3919G>T (p.Ala1307Ser) | |
| 22 | g.50721774C>A | CA515263449 | SHANK3 | c.3542C>A (p.Ala1181Asp) n.4126C>A c.2594C>A (p.Ala865Asp) c.2084C>A (p.Ala695Asp) c.*2540C>A (n.*2540C>A) c.3938C>A (p.Ala1313Asp) c.3920C>A (p.Ala1307Asp) | |
| 22 | g.50721774C>G | CA515263450 | SHANK3 | c.3542C>G (p.Ala1181Gly) n.4126C>G c.2594C>G (p.Ala865Gly) c.2084C>G (p.Ala695Gly) c.*2540C>G (n.*2540C>G) c.3938C>G (p.Ala1313Gly) c.3920C>G (p.Ala1307Gly) | |
| 22 | g.50721774C>T | CA515263451 | SHANK3 | c.3542C>T (p.Ala1181Val) n.4126C>T c.2594C>T (p.Ala865Val) c.2084C>T (p.Ala695Val) c.*2540C>T (n.*2540C>T) c.3938C>T (p.Ala1313Val) c.3920C>T (p.Ala1307Val) | gnomAD v4 |
| 22 | g.50721775C>A | CA515263452 | SHANK3 | c.3543C>A (p.Ala1181=) n.4127C>A c.2595C>A (p.Ala865=) c.2085C>A (p.Ala695=) c.*2541C>A (n.*2541C>A) c.3939C>A (p.Ala1313=) c.3921C>A (p.Ala1307=) | gnomAD v4 |
| 22 | g.50721775C= | CA2411008443 | SHANK3 | c.3543C= (p.Ala1181=) n.4127C= c.2595C= (p.Ala865=) c.2085C= (p.Ala695=) c.*2541C= (n.*2541C=) c.3939C= (p.Ala1313=) c.3921C= (p.Ala1307=) | |
| 22 | g.50721775C>G | CA515263453 | SHANK3 | c.3543C>G (p.Ala1181=) n.4127C>G c.2595C>G (p.Ala865=) c.2085C>G (p.Ala695=) c.*2541C>G (n.*2541C>G) c.3939C>G (p.Ala1313=) c.3921C>G (p.Ala1307=) | |
| 22 | g.50721775C>T | CA515263454 | SHANK3 | c.3543C>T (p.Ala1181=) n.4127C>T c.2595C>T (p.Ala865=) c.2085C>T (p.Ala695=) c.*2541C>T (n.*2541C>T) c.3939C>T (p.Ala1313=) c.3921C>T (p.Ala1307=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 22 | g.50721776A= | CA2411008444 | SHANK3 | c.3544A= (p.Asn1182=) n.4128A= c.2596A= (p.Asn866=) c.2086A= (p.Asn696=) c.*2542A= (n.*2542A=) c.3940A= (p.Asn1314=) c.3922A= (p.Asn1308=) | |
| 22 | g.50721776A>C | CA515263455 | SHANK3 | c.3544A>C (p.Asn1182His) n.4128A>C c.2596A>C (p.Asn866His) c.2086A>C (p.Asn696His) c.*2542A>C (n.*2542A>C) c.3940A>C (p.Asn1314His) c.3922A>C (p.Asn1308His) | dbSNP |
| 22 | g.50721776A>G | CA515263456 | SHANK3 | c.3544A>G (p.Asn1182Asp) n.4128A>G c.2596A>G (p.Asn866Asp) c.2086A>G (p.Asn696Asp) c.*2542A>G (n.*2542A>G) c.3940A>G (p.Asn1314Asp) c.3922A>G (p.Asn1308Asp) | |
| 22 | g.50721776A>T | CA515263457 | SHANK3 | c.3544A>T (p.Asn1182Tyr) n.4128A>T c.2596A>T (p.Asn866Tyr) c.2086A>T (p.Asn696Tyr) c.*2542A>T (n.*2542A>T) c.3940A>T (p.Asn1314Tyr) c.3922A>T (p.Asn1308Tyr) | |
| 22 | g.50721777A= | CA2411008445 | SHANK3 | c.3545A= (p.Asn1182=) n.4129A= c.2597A= (p.Asn866=) c.2087A= (p.Asn696=) c.*2543A= (n.*2543A=) c.3941A= (p.Asn1314=) c.3923A= (p.Asn1308=) | |
| 22 | g.50721777A>C | CA515263458 | SHANK3 | c.3545A>C (p.Asn1182Thr) n.4129A>C c.2597A>C (p.Asn866Thr) c.2087A>C (p.Asn696Thr) c.*2543A>C (n.*2543A>C) c.3941A>C (p.Asn1314Thr) c.3923A>C (p.Asn1308Thr) | ClinVar |
| 22 | g.50721777A>G | CA325579641 | SHANK3 | c.3545A>G (p.Asn1182Ser) n.4129A>G c.2597A>G (p.Asn866Ser) c.2087A>G (p.Asn696Ser) c.*2543A>G (n.*2543A>G) c.3941A>G (p.Asn1314Ser) c.3923A>G (p.Asn1308Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721777A>T | CA515263459 | SHANK3 | c.3545A>T (p.Asn1182Ile) n.4129A>T c.2597A>T (p.Asn866Ile) c.2087A>T (p.Asn696Ile) c.*2543A>T (n.*2543A>T) c.3941A>T (p.Asn1314Ile) c.3923A>T (p.Asn1308Ile) | |
| 22 | g.50721778C>A | CA515263460 | SHANK3 | c.3546C>A (p.Asn1182Lys) n.4130C>A c.2598C>A (p.Asn866Lys) c.2088C>A (p.Asn696Lys) c.*2544C>A (n.*2544C>A) c.3942C>A (p.Asn1314Lys) c.3924C>A (p.Asn1308Lys) | gnomAD v4 |
| 22 | g.50721778C= | CA2411008446 | SHANK3 | c.3546C= (p.Asn1182=) n.4130C= c.2598C= (p.Asn866=) c.2088C= (p.Asn696=) c.*2544C= (n.*2544C=) c.3942C= (p.Asn1314=) c.3924C= (p.Asn1308=) | |
| 22 | g.50721778C>G | CA515263461 | SHANK3 | c.3546C>G (p.Asn1182Lys) n.4130C>G c.2598C>G (p.Asn866Lys) c.2088C>G (p.Asn696Lys) c.*2544C>G (n.*2544C>G) c.3942C>G (p.Asn1314Lys) c.3924C>G (p.Asn1308Lys) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50721778C>T | CA10326178 | SHANK3 | c.3546C>T (p.Asn1182=) n.4130C>T c.2598C>T (p.Asn866=) c.2088C>T (p.Asn696=) c.*2544C>T (n.*2544C>T) c.3942C>T (p.Asn1314=) c.3924C>T (p.Asn1308=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |