UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50722242G>A | CA515264874 | SHANK3 | c.4010G>A (p.Arg1337Lys) n.4594G>A c.3062G>A (p.Arg1021Lys) c.2552G>A (p.Arg851Lys) c.*3008G>A (n.*3008G>A) c.4406G>A (p.Arg1469Lys) c.4388G>A (p.Arg1463Lys) | ClinVar dbSNP |
| 22 | g.50722242G>C | CA515264875 | SHANK3 | c.4010G>C (p.Arg1337Thr) n.4594G>C c.3062G>C (p.Arg1021Thr) c.2552G>C (p.Arg851Thr) c.*3008G>C (n.*3008G>C) c.4406G>C (p.Arg1469Thr) c.4388G>C (p.Arg1463Thr) | |
| 22 | g.50722242G>T | CA515264876 | SHANK3 | c.4010G>T (p.Arg1337Met) n.4594G>T c.3062G>T (p.Arg1021Met) c.2552G>T (p.Arg851Met) c.*3008G>T (n.*3008G>T) c.4406G>T (p.Arg1469Met) c.4388G>T (p.Arg1463Met) | |
| 22 | g.50722243G>A | CA515264880 | SHANK3 | c.4011G>A (p.Arg1337=) n.4595G>A c.3063G>A (p.Arg1021=) c.2553G>A (p.Arg851=) c.*3009G>A (n.*3009G>A) c.4407G>A (p.Arg1469=) c.4389G>A (p.Arg1463=) | gnomAD v4 |
| 22 | g.50722243G>C | CA515264878 | SHANK3 | c.4011G>C (p.Arg1337Ser) n.4595G>C c.3063G>C (p.Arg1021Ser) c.2553G>C (p.Arg851Ser) c.*3009G>C (n.*3009G>C) c.4407G>C (p.Arg1469Ser) c.4389G>C (p.Arg1463Ser) | |
| 22 | g.50722243G>T | CA515264877 | SHANK3 | c.4011G>T (p.Arg1337Ser) n.4595G>T c.3063G>T (p.Arg1021Ser) c.2553G>T (p.Arg851Ser) c.*3009G>T (n.*3009G>T) c.4407G>T (p.Arg1469Ser) c.4389G>T (p.Arg1463Ser) | |
| 22 | g.50722244T>A | CA515264881 | SHANK3 | c.4012T>A (p.Ser1338Thr) n.4596T>A c.3064T>A (p.Ser1022Thr) c.2554T>A (p.Ser852Thr) c.*3010T>A (n.*3010T>A) c.4408T>A (p.Ser1470Thr) c.4390T>A (p.Ser1464Thr) | |
| 22 | g.50722244T>C | CA515264882 | SHANK3 | c.4012T>C (p.Ser1338Pro) n.4596T>C c.3064T>C (p.Ser1022Pro) c.2554T>C (p.Ser852Pro) c.*3010T>C (n.*3010T>C) c.4408T>C (p.Ser1470Pro) c.4390T>C (p.Ser1464Pro) | |
| 22 | g.50722244T>G | CA515264883 | SHANK3 | c.4012T>G (p.Ser1338Ala) n.4596T>G c.3064T>G (p.Ser1022Ala) c.2554T>G (p.Ser852Ala) c.*3010T>G (n.*3010T>G) c.4408T>G (p.Ser1470Ala) c.4390T>G (p.Ser1464Ala) | gnomAD v4 |
| 22 | g.50722245C>A | CA515264884 | SHANK3 | c.4013C>A (p.Ser1338Tyr) n.4597C>A c.3065C>A (p.Ser1022Tyr) c.2555C>A (p.Ser852Tyr) c.*3011C>A (n.*3011C>A) c.4409C>A (p.Ser1470Tyr) c.4391C>A (p.Ser1464Tyr) | |
| 22 | g.50722245C= | CA2411008698 | SHANK3 | c.4013C= (p.Ser1338=) n.4597C= c.3065C= (p.Ser1022=) c.2555C= (p.Ser852=) c.*3011C= (n.*3011C=) c.4409C= (p.Ser1470=) c.4391C= (p.Ser1464=) | |
| 22 | g.50722245C>G | CA515264885 | SHANK3 | c.4013C>G (p.Ser1338Cys) n.4597C>G c.3065C>G (p.Ser1022Cys) c.2555C>G (p.Ser852Cys) c.*3011C>G (n.*3011C>G) c.4409C>G (p.Ser1470Cys) c.4391C>G (p.Ser1464Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50722245C>T | CA515264886 | SHANK3 | c.4013C>T (p.Ser1338Phe) n.4597C>T c.3065C>T (p.Ser1022Phe) c.2555C>T (p.Ser852Phe) c.*3011C>T (n.*3011C>T) c.4409C>T (p.Ser1470Phe) c.4391C>T (p.Ser1464Phe) | |
| 22 | g.50722246C>A | CA515264887 | SHANK3 | c.4014C>A (p.Ser1338=) n.4598C>A c.3066C>A (p.Ser1022=) c.2556C>A (p.Ser852=) c.*3012C>A (n.*3012C>A) c.4410C>A (p.Ser1470=) c.4392C>A (p.Ser1464=) | |
| 22 | g.50722246C>G | CA515264889 | SHANK3 | c.4014C>G (p.Ser1338=) n.4598C>G c.3066C>G (p.Ser1022=) c.2556C>G (p.Ser852=) c.*3012C>G (n.*3012C>G) c.4410C>G (p.Ser1470=) c.4392C>G (p.Ser1464=) | |
| 22 | g.50722246C>T | CA515264888 | SHANK3 | c.4014C>T (p.Ser1338=) n.4598C>T c.3066C>T (p.Ser1022=) c.2556C>T (p.Ser852=) c.*3012C>T (n.*3012C>T) c.4410C>T (p.Ser1470=) c.4392C>T (p.Ser1464=) | gnomAD v4 |
| 22 | g.50722247A>C | CA515264891 | SHANK3 | c.4015A>C (p.Lys1339Gln) n.4599A>C c.3067A>C (p.Lys1023Gln) c.2557A>C (p.Lys853Gln) c.*3013A>C (n.*3013A>C) c.4411A>C (p.Lys1471Gln) c.4393A>C (p.Lys1465Gln) | |
| 22 | g.50722247A>G | CA515264894 | SHANK3 | c.4015A>G (p.Lys1339Glu) n.4599A>G c.3067A>G (p.Lys1023Glu) c.2557A>G (p.Lys853Glu) c.*3013A>G (n.*3013A>G) c.4411A>G (p.Lys1471Glu) c.4393A>G (p.Lys1465Glu) | |
| 22 | g.50722247A>T | CA515264895 | SHANK3 | c.4015A>T (p.Lys1339Ter) n.4599A>T c.3067A>T (p.Lys1023Ter) c.2557A>T (p.Lys853Ter) c.*3013A>T (n.*3013A>T) c.4411A>T (p.Lys1471Ter) c.4393A>T (p.Lys1465Ter) | |
| 22 | g.50722248A>C | CA515264896 | SHANK3 | c.4016A>C (p.Lys1339Thr) n.4600A>C c.3068A>C (p.Lys1023Thr) c.2558A>C (p.Lys853Thr) c.*3014A>C (n.*3014A>C) c.4412A>C (p.Lys1471Thr) c.4394A>C (p.Lys1465Thr) | |
| 22 | g.50722248A>G | CA515264897 | SHANK3 | c.4016A>G (p.Lys1339Arg) n.4600A>G c.3068A>G (p.Lys1023Arg) c.2558A>G (p.Lys853Arg) c.*3014A>G (n.*3014A>G) c.4412A>G (p.Lys1471Arg) c.4394A>G (p.Lys1465Arg) | |
| 22 | g.50722248A>T | CA515264898 | SHANK3 | c.4016A>T (p.Lys1339Met) n.4600A>T c.3068A>T (p.Lys1023Met) c.2558A>T (p.Lys853Met) c.*3014A>T (n.*3014A>T) c.4412A>T (p.Lys1471Met) c.4394A>T (p.Lys1465Met) | |
| 22 | g.50722249G>A | CA10326278 | SHANK3 | c.4017G>A (p.Lys1339=) n.4601G>A c.3069G>A (p.Lys1023=) c.2559G>A (p.Lys853=) c.*3015G>A (n.*3015G>A) c.4413G>A (p.Lys1471=) c.4395G>A (p.Lys1465=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50722249G>C | CA515264899 | SHANK3 | c.4017G>C (p.Lys1339Asn) n.4601G>C c.3069G>C (p.Lys1023Asn) c.2559G>C (p.Lys853Asn) c.*3015G>C (n.*3015G>C) c.4413G>C (p.Lys1471Asn) c.4395G>C (p.Lys1465Asn) | |
| 22 | g.50722249G= | CA2411008699 | SHANK3 | c.4017G= (p.Lys1339=) n.4601G= c.3069G= (p.Lys1023=) c.2559G= (p.Lys853=) c.*3015G= (n.*3015G=) c.4413G= (p.Lys1471=) c.4395G= (p.Lys1465=) | |
| 22 | g.50722249G>T | CA515264900 | SHANK3 | c.4017G>T (p.Lys1339Asn) n.4601G>T c.3069G>T (p.Lys1023Asn) c.2559G>T (p.Lys853Asn) c.*3015G>T (n.*3015G>T) c.4413G>T (p.Lys1471Asn) c.4395G>T (p.Lys1465Asn) | |
| 22 | g.50722250C>A | CA515264901 | SHANK3 | c.4018C>A (p.Leu1340Ile) n.4602C>A c.3070C>A (p.Leu1024Ile) c.2560C>A (p.Leu854Ile) c.*3016C>A (n.*3016C>A) c.4414C>A (p.Leu1472Ile) c.4396C>A (p.Leu1466Ile) | |
| 22 | g.50722250C= | CA2411008700 | SHANK3 | c.4018C= (p.Leu1340=) n.4602C= c.3070C= (p.Leu1024=) c.2560C= (p.Leu854=) c.*3016C= (n.*3016C=) c.4414C= (p.Leu1472=) c.4396C= (p.Leu1466=) | |
| 22 | g.50722250C>G | CA515264902 | SHANK3 | c.4018C>G (p.Leu1340Val) n.4602C>G c.3070C>G (p.Leu1024Val) c.2560C>G (p.Leu854Val) c.*3016C>G (n.*3016C>G) c.4414C>G (p.Leu1472Val) c.4396C>G (p.Leu1466Val) | |
| 22 | g.50722250C>T | CA515264903 | SHANK3 | c.4018C>T (p.Leu1340=) n.4602C>T c.3070C>T (p.Leu1024=) c.2560C>T (p.Leu854=) c.*3016C>T (n.*3016C>T) c.4414C>T (p.Leu1472=) c.4396C>T (p.Leu1466=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50722251T>A | CA515264904 | SHANK3 | c.4019T>A (p.Leu1340Gln) n.4603T>A c.3071T>A (p.Leu1024Gln) c.2561T>A (p.Leu854Gln) c.*3017T>A (n.*3017T>A) c.4415T>A (p.Leu1472Gln) c.4397T>A (p.Leu1466Gln) | |
| 22 | g.50722251T>C | CA515264906 | SHANK3 | c.4019T>C (p.Leu1340Pro) n.4603T>C c.3071T>C (p.Leu1024Pro) c.2561T>C (p.Leu854Pro) c.*3017T>C (n.*3017T>C) c.4415T>C (p.Leu1472Pro) c.4397T>C (p.Leu1466Pro) | |
| 22 | g.50722251T>G | CA515264905 | SHANK3 | c.4019T>G (p.Leu1340Arg) n.4603T>G c.3071T>G (p.Leu1024Arg) c.2561T>G (p.Leu854Arg) c.*3017T>G (n.*3017T>G) c.4415T>G (p.Leu1472Arg) c.4397T>G (p.Leu1466Arg) | |
| 22 | g.50722252A= | CA2411008701 | SHANK3 | c.4020A= (p.Leu1340=) n.4604A= c.3072A= (p.Leu1024=) c.2562A= (p.Leu854=) c.*3018A= (n.*3018A=) c.4416A= (p.Leu1472=) c.4398A= (p.Leu1466=) | |
| 22 | g.50722252A>C | CA515264907 | SHANK3 | c.4020A>C (p.Leu1340=) n.4604A>C c.3072A>C (p.Leu1024=) c.2562A>C (p.Leu854=) c.*3018A>C (n.*3018A>C) c.4416A>C (p.Leu1472=) c.4398A>C (p.Leu1466=) | |
| 22 | g.50722252A>G | CA10326279 | SHANK3 | c.4020A>G (p.Leu1340=) n.4604A>G c.3072A>G (p.Leu1024=) c.2562A>G (p.Leu854=) c.*3018A>G (n.*3018A>G) c.4416A>G (p.Leu1472=) c.4398A>G (p.Leu1466=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50722252A>T | CA515264908 | SHANK3 | c.4020A>T (p.Leu1340=) n.4604A>T c.3072A>T (p.Leu1024=) c.2562A>T (p.Leu854=) c.*3018A>T (n.*3018A>T) c.4416A>T (p.Leu1472=) c.4398A>T (p.Leu1466=) | |
| 22 | g.50722253T>A | CA515264909 | SHANK3 | c.4021T>A (p.Trp1341Arg) n.4605T>A c.3073T>A (p.Trp1025Arg) c.2563T>A (p.Trp855Arg) c.*3019T>A (n.*3019T>A) c.4417T>A (p.Trp1473Arg) c.4399T>A (p.Trp1467Arg) | |
| 22 | g.50722253T>C | CA515264910 | SHANK3 | c.4021T>C (p.Trp1341Arg) n.4605T>C c.3073T>C (p.Trp1025Arg) c.2563T>C (p.Trp855Arg) c.*3019T>C (n.*3019T>C) c.4417T>C (p.Trp1473Arg) c.4399T>C (p.Trp1467Arg) | |
| 22 | g.50722253T>G | CA515264911 | SHANK3 | c.4021T>G (p.Trp1341Gly) n.4605T>G c.3073T>G (p.Trp1025Gly) c.2563T>G (p.Trp855Gly) c.*3019T>G (n.*3019T>G) c.4417T>G (p.Trp1473Gly) c.4399T>G (p.Trp1467Gly) | |
| 22 | g.50722254G>A | CA515264912 | SHANK3 | c.4022G>A (p.Trp1341Ter) n.4606G>A c.3074G>A (p.Trp1025Ter) c.2564G>A (p.Trp855Ter) c.*3020G>A (n.*3020G>A) c.4418G>A (p.Trp1473Ter) c.4400G>A (p.Trp1467Ter) | |
| 22 | g.50722254G>C | CA515264913 | SHANK3 | c.4022G>C (p.Trp1341Ser) n.4606G>C c.3074G>C (p.Trp1025Ser) c.2564G>C (p.Trp855Ser) c.*3020G>C (n.*3020G>C) c.4418G>C (p.Trp1473Ser) c.4400G>C (p.Trp1467Ser) | |
| 22 | g.50722254G>T | CA515264914 | SHANK3 | c.4022G>T (p.Trp1341Leu) n.4606G>T c.3074G>T (p.Trp1025Leu) c.2564G>T (p.Trp855Leu) c.*3020G>T (n.*3020G>T) c.4418G>T (p.Trp1473Leu) c.4400G>T (p.Trp1467Leu) | |
| 22 | g.50722255G>A | CA515264915 | SHANK3 | c.4023G>A (p.Trp1341Ter) n.4607G>A c.3075G>A (p.Trp1025Ter) c.2565G>A (p.Trp855Ter) c.*3021G>A (n.*3021G>A) c.4419G>A (p.Trp1473Ter) c.4401G>A (p.Trp1467Ter) | ClinVar dbSNP |
| 22 | g.50722255G>C | CA515264916 | SHANK3 | c.4023G>C (p.Trp1341Cys) n.4607G>C c.3075G>C (p.Trp1025Cys) c.2565G>C (p.Trp855Cys) c.*3021G>C (n.*3021G>C) c.4419G>C (p.Trp1473Cys) c.4401G>C (p.Trp1467Cys) | |
| 22 | g.50722255G>T | CA515264917 | SHANK3 | c.4023G>T (p.Trp1341Cys) n.4607G>T c.3075G>T (p.Trp1025Cys) c.2565G>T (p.Trp855Cys) c.*3021G>T (n.*3021G>T) c.4419G>T (p.Trp1473Cys) c.4401G>T (p.Trp1467Cys) | |
| 22 | g.50722256G>A | CA10326280 | SHANK3 | c.4024G>A (p.Gly1342Arg) n.4608G>A c.3076G>A (p.Gly1026Arg) c.2566G>A (p.Gly856Arg) c.*3022G>A (n.*3022G>A) c.4420G>A (p.Gly1474Arg) c.4402G>A (p.Gly1468Arg) | dbSNP ExAC gnomAD v2 |
| 22 | g.50722256G>C | CA515264919 | SHANK3 | c.4024G>C (p.Gly1342Arg) n.4608G>C c.3076G>C (p.Gly1026Arg) c.2566G>C (p.Gly856Arg) c.*3022G>C (n.*3022G>C) c.4420G>C (p.Gly1474Arg) c.4402G>C (p.Gly1468Arg) | |
| 22 | g.50722256G= | CA2411008702 | SHANK3 | c.4024G= (p.Gly1342=) n.4608G= c.3076G= (p.Gly1026=) c.2566G= (p.Gly856=) c.*3022G= (n.*3022G=) c.4420G= (p.Gly1474=) c.4402G= (p.Gly1468=) | |
| 22 | g.50722256G>T | CA515264918 | SHANK3 | c.4024G>T (p.Gly1342Trp) n.4608G>T c.3076G>T (p.Gly1026Trp) c.2566G>T (p.Gly856Trp) c.*3022G>T (n.*3022G>T) c.4420G>T (p.Gly1474Trp) c.4402G>T (p.Gly1468Trp) | |
| 22 | g.50722257G>A | CA515264921 | SHANK3 | c.4025G>A (p.Gly1342Glu) n.4609G>A c.3077G>A (p.Gly1026Glu) c.2567G>A (p.Gly856Glu) c.*3023G>A (n.*3023G>A) c.4421G>A (p.Gly1474Glu) c.4403G>A (p.Gly1468Glu) | |
| 22 | g.50722257G>C | CA515264922 | SHANK3 | c.4025G>C (p.Gly1342Ala) n.4609G>C c.3077G>C (p.Gly1026Ala) c.2567G>C (p.Gly856Ala) c.*3023G>C (n.*3023G>C) c.4421G>C (p.Gly1474Ala) c.4403G>C (p.Gly1468Ala) | |
| 22 | g.50722257G>T | CA515264924 | SHANK3 | c.4025G>T (p.Gly1342Val) n.4609G>T c.3077G>T (p.Gly1026Val) c.2567G>T (p.Gly856Val) c.*3023G>T (n.*3023G>T) c.4421G>T (p.Gly1474Val) c.4403G>T (p.Gly1468Val) | |
| 22 | g.50722258G>A | CA515264925 | SHANK3 | c.4026G>A (p.Gly1342=) n.4610G>A c.3078G>A (p.Gly1026=) c.2568G>A (p.Gly856=) c.*3024G>A (n.*3024G>A) c.4422G>A (p.Gly1474=) c.4404G>A (p.Gly1468=) | COSMIC COSMIC |
| 22 | g.50722258G>C | CA515264927 | SHANK3 | c.4026G>C (p.Gly1342=) n.4610G>C c.3078G>C (p.Gly1026=) c.2568G>C (p.Gly856=) c.*3024G>C (n.*3024G>C) c.4422G>C (p.Gly1474=) c.4404G>C (p.Gly1468=) | |
| 22 | g.50722258G>T | CA515264929 | SHANK3 | c.4026G>T (p.Gly1342=) n.4610G>T c.3078G>T (p.Gly1026=) c.2568G>T (p.Gly856=) c.*3024G>T (n.*3024G>T) c.4422G>T (p.Gly1474=) c.4404G>T (p.Gly1468=) | |
| 22 | g.50722259G>A | CA515264931 | SHANK3 | c.4027G>A (p.Asp1343Asn) n.4611G>A c.3079G>A (p.Asp1027Asn) c.2569G>A (p.Asp857Asn) c.*3025G>A (n.*3025G>A) c.4423G>A (p.Asp1475Asn) c.4405G>A (p.Asp1469Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50722259G>C | CA515264932 | SHANK3 | c.4027G>C (p.Asp1343His) n.4611G>C c.3079G>C (p.Asp1027His) c.2569G>C (p.Asp857His) c.*3025G>C (n.*3025G>C) c.4423G>C (p.Asp1475His) c.4405G>C (p.Asp1469His) | |
| 22 | g.50722259G= | CA2411008703 | SHANK3 | c.4027G= (p.Asp1343=) n.4611G= c.3079G= (p.Asp1027=) c.2569G= (p.Asp857=) c.*3025G= (n.*3025G=) c.4423G= (p.Asp1475=) c.4405G= (p.Asp1469=) | |
| 22 | g.50722259G>T | CA515264933 | SHANK3 | c.4027G>T (p.Asp1343Tyr) n.4611G>T c.3079G>T (p.Asp1027Tyr) c.2569G>T (p.Asp857Tyr) c.*3025G>T (n.*3025G>T) c.4423G>T (p.Asp1475Tyr) c.4405G>T (p.Asp1469Tyr) | |
| 22 | g.50722260A>C | CA515264934 | SHANK3 | c.4028A>C (p.Asp1343Ala) n.4612A>C c.3080A>C (p.Asp1027Ala) c.2570A>C (p.Asp857Ala) c.*3026A>C (n.*3026A>C) c.4424A>C (p.Asp1475Ala) c.4406A>C (p.Asp1469Ala) | |
| 22 | g.50722260A>G | CA515264935 | SHANK3 | c.4028A>G (p.Asp1343Gly) n.4612A>G c.3080A>G (p.Asp1027Gly) c.2570A>G (p.Asp857Gly) c.*3026A>G (n.*3026A>G) c.4424A>G (p.Asp1475Gly) c.4406A>G (p.Asp1469Gly) | |
| 22 | g.50722260A>T | CA515264936 | SHANK3 | c.4028A>T (p.Asp1343Val) n.4612A>T c.3080A>T (p.Asp1027Val) c.2570A>T (p.Asp857Val) c.*3026A>T (n.*3026A>T) c.4424A>T (p.Asp1475Val) c.4406A>T (p.Asp1469Val) | |
| 22 | g.50722261C>A | CA515264937 | SHANK3 | c.4029C>A (p.Asp1343Glu) n.4613C>A c.3081C>A (p.Asp1027Glu) c.2571C>A (p.Asp857Glu) c.*3027C>A (n.*3027C>A) c.4425C>A (p.Asp1475Glu) c.4407C>A (p.Asp1469Glu) | |
| 22 | g.50722261C= | CA2411008704 | SHANK3 | c.4029C= (p.Asp1343=) n.4613C= c.3081C= (p.Asp1027=) c.2571C= (p.Asp857=) c.*3027C= (n.*3027C=) c.4425C= (p.Asp1475=) c.4407C= (p.Asp1469=) | |
| 22 | g.50722261C>G | CA515264940 | SHANK3 | c.4029C>G (p.Asp1343Glu) n.4613C>G c.3081C>G (p.Asp1027Glu) c.2571C>G (p.Asp857Glu) c.*3027C>G (n.*3027C>G) c.4425C>G (p.Asp1475Glu) c.4407C>G (p.Asp1469Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50722261C>T | CA515264938 | SHANK3 | c.4029C>T (p.Asp1343=) n.4613C>T c.3081C>T (p.Asp1027=) c.2571C>T (p.Asp857=) c.*3027C>T (n.*3027C>T) c.4425C>T (p.Asp1475=) c.4407C>T (p.Asp1469=) | |
| 22 | g.50722262C>A | CA515264941 | SHANK3 | c.4030C>A (p.Pro1344Thr) n.4614C>A c.3082C>A (p.Pro1028Thr) c.2572C>A (p.Pro858Thr) c.*3028C>A (n.*3028C>A) c.4426C>A (p.Pro1476Thr) c.4408C>A (p.Pro1470Thr) | |
| 22 | g.50722262C>G | CA515264943 | SHANK3 | c.4030C>G (p.Pro1344Ala) n.4614C>G c.3082C>G (p.Pro1028Ala) c.2572C>G (p.Pro858Ala) c.*3028C>G (n.*3028C>G) c.4426C>G (p.Pro1476Ala) c.4408C>G (p.Pro1470Ala) | |
| 22 | g.50722262C>T | CA515264942 | SHANK3 | c.4030C>T (p.Pro1344Ser) n.4614C>T c.3082C>T (p.Pro1028Ser) c.2572C>T (p.Pro858Ser) c.*3028C>T (n.*3028C>T) c.4426C>T (p.Pro1476Ser) c.4408C>T (p.Pro1470Ser) | gnomAD v4 |
| 22 | g.50722263C>A | CA515264945 | SHANK3 | c.4031C>A (p.Pro1344His) n.4615C>A c.3083C>A (p.Pro1028His) c.2573C>A (p.Pro858His) c.*3029C>A (n.*3029C>A) c.4427C>A (p.Pro1476His) c.4409C>A (p.Pro1470His) | |
| 22 | g.50722263C= | CA2411008705 | SHANK3 | c.4031C= (p.Pro1344=) n.4615C= c.3083C= (p.Pro1028=) c.2573C= (p.Pro858=) c.*3029C= (n.*3029C=) c.4427C= (p.Pro1476=) c.4409C= (p.Pro1470=) | |
| 22 | g.50722263C>G | CA515264946 | SHANK3 | c.4031C>G (p.Pro1344Arg) n.4615C>G c.3083C>G (p.Pro1028Arg) c.2573C>G (p.Pro858Arg) c.*3029C>G (n.*3029C>G) c.4427C>G (p.Pro1476Arg) c.4409C>G (p.Pro1470Arg) | |
| 22 | g.50722263C>T | CA515264947 | SHANK3 | c.4031C>T (p.Pro1344Leu) n.4615C>T c.3083C>T (p.Pro1028Leu) c.2573C>T (p.Pro858Leu) c.*3029C>T (n.*3029C>T) c.4427C>T (p.Pro1476Leu) c.4409C>T (p.Pro1470Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50722264C>A | CA515264948 | SHANK3 | c.4032C>A (p.Pro1344=) n.4616C>A c.3084C>A (p.Pro1028=) c.2574C>A (p.Pro858=) c.*3030C>A (n.*3030C>A) c.4428C>A (p.Pro1476=) c.4410C>A (p.Pro1470=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50722264C= | CA2411008706 | SHANK3 | c.4032C= (p.Pro1344=) n.4616C= c.3084C= (p.Pro1028=) c.2574C= (p.Pro858=) c.*3030C= (n.*3030C=) c.4428C= (p.Pro1476=) c.4410C= (p.Pro1470=) | |
| 22 | g.50722264C>G | CA515264949 | SHANK3 | c.4032C>G (p.Pro1344=) n.4616C>G c.3084C>G (p.Pro1028=) c.2574C>G (p.Pro858=) c.*3030C>G (n.*3030C>G) c.4428C>G (p.Pro1476=) c.4410C>G (p.Pro1470=) | |
| 22 | g.50722264C>T | CA10326281 | SHANK3 | c.4032C>T (p.Pro1344=) n.4616C>T c.3084C>T (p.Pro1028=) c.2574C>T (p.Pro858=) c.*3030C>T (n.*3030C>T) c.4428C>T (p.Pro1476=) c.4410C>T (p.Pro1470=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 22 | g.50722265G>A | CA10326282 | SHANK3 | c.4033G>A (p.Val1345Met) n.4617G>A c.3085G>A (p.Val1029Met) c.2575G>A (p.Val859Met) c.*3031G>A (n.*3031G>A) c.4429G>A (p.Val1477Met) c.4411G>A (p.Val1471Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50722265G>C | CA515264952 | SHANK3 | c.4033G>C (p.Val1345Leu) n.4617G>C c.3085G>C (p.Val1029Leu) c.2575G>C (p.Val859Leu) c.*3031G>C (n.*3031G>C) c.4429G>C (p.Val1477Leu) c.4411G>C (p.Val1471Leu) | |
| 22 | g.50722265G= | CA2411008707 | SHANK3 | c.4033G= (p.Val1345=) n.4617G= c.3085G= (p.Val1029=) c.2575G= (p.Val859=) c.*3031G= (n.*3031G=) c.4429G= (p.Val1477=) c.4411G= (p.Val1471=) | |
| 22 | g.50722265G>T | CA515264953 | SHANK3 | c.4033G>T (p.Val1345Leu) n.4617G>T c.3085G>T (p.Val1029Leu) c.2575G>T (p.Val859Leu) c.*3031G>T (n.*3031G>T) c.4429G>T (p.Val1477Leu) c.4411G>T (p.Val1471Leu) | gnomAD v4 |
| 22 | g.50722266T>A | CA10326283 | SHANK3 | c.4034T>A (p.Val1345Glu) n.4618T>A c.3086T>A (p.Val1029Glu) c.2576T>A (p.Val859Glu) c.*3032T>A (n.*3032T>A) c.4430T>A (p.Val1477Glu) c.4412T>A (p.Val1471Glu) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 22 | g.50722266T>C | CA515264955 | SHANK3 | c.4034T>C (p.Val1345Ala) n.4618T>C c.3086T>C (p.Val1029Ala) c.2576T>C (p.Val859Ala) c.*3032T>C (n.*3032T>C) c.4430T>C (p.Val1477Ala) c.4412T>C (p.Val1471Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50722266T>G | CA515264957 | SHANK3 | c.4034T>G (p.Val1345Gly) n.4618T>G c.3086T>G (p.Val1029Gly) c.2576T>G (p.Val859Gly) c.*3032T>G (n.*3032T>G) c.4430T>G (p.Val1477Gly) c.4412T>G (p.Val1471Gly) | |
| 22 | g.50722266T= | CA2411008708 | SHANK3 | c.4034T= (p.Val1345=) n.4618T= c.3086T= (p.Val1029=) c.2576T= (p.Val859=) c.*3032T= (n.*3032T=) c.4430T= (p.Val1477=) c.4412T= (p.Val1471=) | |
| 22 | g.50722267G>A | CA515264958 | SHANK3 | c.4035G>A (p.Val1345=) n.4619G>A c.3087G>A (p.Val1029=) c.2577G>A (p.Val859=) c.*3033G>A (n.*3033G>A) c.4431G>A (p.Val1477=) c.4413G>A (p.Val1471=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50722267G>C | CA515264960 | SHANK3 | c.4035G>C (p.Val1345=) n.4619G>C c.3087G>C (p.Val1029=) c.2577G>C (p.Val859=) c.*3033G>C (n.*3033G>C) c.4431G>C (p.Val1477=) c.4413G>C (p.Val1471=) | |
| 22 | g.50722267G= | CA2411008709 | SHANK3 | c.4035G= (p.Val1345=) n.4619G= c.3087G= (p.Val1029=) c.2577G= (p.Val859=) c.*3033G= (n.*3033G=) c.4431G= (p.Val1477=) c.4413G= (p.Val1471=) | |
| 22 | g.50722267G>T | CA515264959 | SHANK3 | c.4035G>T (p.Val1345=) n.4619G>T c.3087G>T (p.Val1029=) c.2577G>T (p.Val859=) c.*3033G>T (n.*3033G>T) c.4431G>T (p.Val1477=) c.4413G>T (p.Val1471=) | |
| 22 | g.50722268G>A | CA515264962 | SHANK3 | c.4036G>A (p.Glu1346Lys) n.4620G>A c.3088G>A (p.Glu1030Lys) c.2578G>A (p.Glu860Lys) c.*3034G>A (n.*3034G>A) c.4432G>A (p.Glu1478Lys) c.4414G>A (p.Glu1472Lys) | gnomAD v4 |
| 22 | g.50722268G>C | CA10326284 | SHANK3 | c.4036G>C (p.Glu1346Gln) n.4620G>C c.3088G>C (p.Glu1030Gln) c.2578G>C (p.Glu860Gln) c.*3034G>C (n.*3034G>C) c.4432G>C (p.Glu1478Gln) c.4414G>C (p.Glu1472Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50722268G= | CA2411008710 | SHANK3 | c.4036G= (p.Glu1346=) n.4620G= c.3088G= (p.Glu1030=) c.2578G= (p.Glu860=) c.*3034G= (n.*3034G=) c.4432G= (p.Glu1478=) c.4414G= (p.Glu1472=) | |
| 22 | g.50722268G>T | CA515264963 | SHANK3 | c.4036G>T (p.Glu1346Ter) n.4620G>T c.3088G>T (p.Glu1030Ter) c.2578G>T (p.Glu860Ter) c.*3034G>T (n.*3034G>T) c.4432G>T (p.Glu1478Ter) c.4414G>T (p.Glu1472Ter) | |
| 22 | g.50722269A>C | CA515264964 | SHANK3 | c.4037A>C (p.Glu1346Ala) n.4621A>C c.3089A>C (p.Glu1030Ala) c.2579A>C (p.Glu860Ala) c.*3035A>C (n.*3035A>C) c.4433A>C (p.Glu1478Ala) c.4415A>C (p.Glu1472Ala) | |
| 22 | g.50722269A>G | CA515264965 | SHANK3 | c.4037A>G (p.Glu1346Gly) n.4621A>G c.3089A>G (p.Glu1030Gly) c.2579A>G (p.Glu860Gly) c.*3035A>G (n.*3035A>G) c.4433A>G (p.Glu1478Gly) c.4415A>G (p.Glu1472Gly) | |
| 22 | g.50722269A>T | CA515264967 | SHANK3 | c.4037A>T (p.Glu1346Val) n.4621A>T c.3089A>T (p.Glu1030Val) c.2579A>T (p.Glu860Val) c.*3035A>T (n.*3035A>T) c.4433A>T (p.Glu1478Val) c.4415A>T (p.Glu1472Val) | |
| 22 | g.50722270G>A | CA515264969 | SHANK3 | c.4038G>A (p.Glu1346=) n.4622G>A c.3090G>A (p.Glu1030=) c.2580G>A (p.Glu860=) c.*3036G>A (n.*3036G>A) c.4434G>A (p.Glu1478=) c.4416G>A (p.Glu1472=) | ClinVar dbSNP |
| 22 | g.50722270G>C | CA515264970 | SHANK3 | c.4038G>C (p.Glu1346Asp) n.4622G>C c.3090G>C (p.Glu1030Asp) c.2580G>C (p.Glu860Asp) c.*3036G>C (n.*3036G>C) c.4434G>C (p.Glu1478Asp) c.4416G>C (p.Glu1472Asp) | |
| 22 | g.50722270G= | CA2411008711 | SHANK3 | c.4038G= (p.Glu1346=) n.4622G= c.3090G= (p.Glu1030=) c.2580G= (p.Glu860=) c.*3036G= (n.*3036G=) c.4434G= (p.Glu1478=) c.4416G= (p.Glu1472=) | |
| 22 | g.50722270G>T | CA515264971 | SHANK3 | c.4038G>T (p.Glu1346Asp) n.4622G>T c.3090G>T (p.Glu1030Asp) c.2580G>T (p.Glu860Asp) c.*3036G>T (n.*3036G>T) c.4434G>T (p.Glu1478Asp) c.4416G>T (p.Glu1472Asp) | gnomAD v4 |
| 22 | g.50722271A= | CA2411008712 | SHANK3 | c.4039A= (p.Ser1347=) n.4623A= c.3091A= (p.Ser1031=) c.2581A= (p.Ser861=) c.*3037A= (n.*3037A=) c.4435A= (p.Ser1479=) c.4417A= (p.Ser1473=) | |
| 22 | g.50722271A>C | CA515264976 | SHANK3 | c.4039A>C (p.Ser1347Arg) n.4623A>C c.3091A>C (p.Ser1031Arg) c.2581A>C (p.Ser861Arg) c.*3037A>C (n.*3037A>C) c.4435A>C (p.Ser1479Arg) c.4417A>C (p.Ser1473Arg) | |
| 22 | g.50722271A>G | CA515264974 | SHANK3 | c.4039A>G (p.Ser1347Gly) n.4623A>G c.3091A>G (p.Ser1031Gly) c.2581A>G (p.Ser861Gly) c.*3037A>G (n.*3037A>G) c.4435A>G (p.Ser1479Gly) c.4417A>G (p.Ser1473Gly) | dbSNP gnomAD v4 |
| 22 | g.50722271A>T | CA515264972 | SHANK3 | c.4039A>T (p.Ser1347Cys) n.4623A>T c.3091A>T (p.Ser1031Cys) c.2581A>T (p.Ser861Cys) c.*3037A>T (n.*3037A>T) c.4435A>T (p.Ser1479Cys) c.4417A>T (p.Ser1473Cys) | |
| 22 | g.50722272G>A | CA515264978 | SHANK3 | c.4040G>A (p.Ser1347Asn) n.4624G>A c.3092G>A (p.Ser1031Asn) c.2582G>A (p.Ser861Asn) c.*3038G>A (n.*3038G>A) c.4436G>A (p.Ser1479Asn) c.4418G>A (p.Ser1473Asn) | gnomAD v4 |
| 22 | g.50722272G>C | CA515264979 | SHANK3 | c.4040G>C (p.Ser1347Thr) n.4624G>C c.3092G>C (p.Ser1031Thr) c.2582G>C (p.Ser861Thr) c.*3038G>C (n.*3038G>C) c.4436G>C (p.Ser1479Thr) c.4418G>C (p.Ser1473Thr) | |
| 22 | g.50722272G= | CA2411008713 | SHANK3 | c.4040G= (p.Ser1347=) n.4624G= c.3092G= (p.Ser1031=) c.2582G= (p.Ser861=) c.*3038G= (n.*3038G=) c.4436G= (p.Ser1479=) c.4418G= (p.Ser1473=) | |
| 22 | g.50722272G>T | CA10326285 | SHANK3 | c.4040G>T (p.Ser1347Ile) n.4624G>T c.3092G>T (p.Ser1031Ile) c.2582G>T (p.Ser861Ile) c.*3038G>T (n.*3038G>T) c.4436G>T (p.Ser1479Ile) c.4418G>T (p.Ser1473Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50722273C>A | CA515264981 | SHANK3 | c.4041C>A (p.Ser1347Arg) n.4625C>A c.3093C>A (p.Ser1031Arg) c.2583C>A (p.Ser861Arg) c.*3039C>A (n.*3039C>A) c.4437C>A (p.Ser1479Arg) c.4419C>A (p.Ser1473Arg) | |
| 22 | g.50722273C= | CA2411008714 | SHANK3 | c.4041C= (p.Ser1347=) n.4625C= c.3093C= (p.Ser1031=) c.2583C= (p.Ser861=) c.*3039C= (n.*3039C=) c.4437C= (p.Ser1479=) c.4419C= (p.Ser1473=) | |
| 22 | g.50722273C>G | CA515264982 | SHANK3 | c.4041C>G (p.Ser1347Arg) n.4625C>G c.3093C>G (p.Ser1031Arg) c.2583C>G (p.Ser861Arg) c.*3039C>G (n.*3039C>G) c.4437C>G (p.Ser1479Arg) c.4419C>G (p.Ser1473Arg) | |
| 22 | g.50722273C>T | CA325580360 | SHANK3 | c.4041C>T (p.Ser1347=) n.4625C>T c.3093C>T (p.Ser1031=) c.2583C>T (p.Ser861=) c.*3039C>T (n.*3039C>T) c.4437C>T (p.Ser1479=) c.4419C>T (p.Ser1473=) | dbSNP gnomAD v2 |
| 22 | g.50722274C>A | CA515264983 | SHANK3 | c.4042C>A (p.Arg1348=) n.4626C>A c.3094C>A (p.Arg1032=) c.2584C>A (p.Arg862=) c.*3040C>A (n.*3040C>A) c.4438C>A (p.Arg1480=) c.4420C>A (p.Arg1474=) | COSMIC COSMIC |
| 22 | g.50722274C= | CA2411008715 | SHANK3 | c.4042C= (p.Arg1348=) n.4626C= c.3094C= (p.Arg1032=) c.2584C= (p.Arg862=) c.*3040C= (n.*3040C=) c.4438C= (p.Arg1480=) c.4420C= (p.Arg1474=) | |
| 22 | g.50722274C>G | CA515264985 | SHANK3 | c.4042C>G (p.Arg1348Gly) n.4626C>G c.3094C>G (p.Arg1032Gly) c.2584C>G (p.Arg862Gly) c.*3040C>G (n.*3040C>G) c.4438C>G (p.Arg1480Gly) c.4420C>G (p.Arg1474Gly) | gnomAD v4 |
| 22 | g.50722274C>T | CA515264987 | SHANK3 | c.4042C>T (p.Arg1348Trp) n.4626C>T c.3094C>T (p.Arg1032Trp) c.2584C>T (p.Arg862Trp) c.*3040C>T (n.*3040C>T) c.4438C>T (p.Arg1480Trp) c.4420C>T (p.Arg1474Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50722275G>A | CA515264989 | SHANK3 | c.4043G>A (p.Arg1348Gln) n.4627G>A c.3095G>A (p.Arg1032Gln) c.2585G>A (p.Arg862Gln) c.*3041G>A (n.*3041G>A) c.4439G>A (p.Arg1480Gln) c.4421G>A (p.Arg1474Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50722275G>C | CA515264990 | SHANK3 | c.4043G>C (p.Arg1348Pro) n.4627G>C c.3095G>C (p.Arg1032Pro) c.2585G>C (p.Arg862Pro) c.*3041G>C (n.*3041G>C) c.4439G>C (p.Arg1480Pro) c.4421G>C (p.Arg1474Pro) | |
| 22 | g.50722275G= | CA2411008716 | SHANK3 | c.4043G= (p.Arg1348=) n.4627G= c.3095G= (p.Arg1032=) c.2585G= (p.Arg862=) c.*3041G= (n.*3041G=) c.4439G= (p.Arg1480=) c.4421G= (p.Arg1474=) | |
| 22 | g.50722275G>T | CA515264991 | SHANK3 | c.4043G>T (p.Arg1348Leu) n.4627G>T c.3095G>T (p.Arg1032Leu) c.2585G>T (p.Arg862Leu) c.*3041G>T (n.*3041G>T) c.4439G>T (p.Arg1480Leu) c.4421G>T (p.Arg1474Leu) | |
| 22 | g.50722279del | CA2657581527 | SHANK3 | c.4047del (p.Leu1350SerfsTer11) n.4631del c.3099del (p.Leu1034SerfsTer11) c.2589del (p.Leu864SerfsTer11) c.*3045del (n.*3045del) c.4443del (p.Leu1482SerfsTer11) c.4425del (p.Leu1476SerfsTer11) | gnomAD v4 |
| 22 | g.50722276G>A | CA515264996 | SHANK3 | c.4044G>A (p.Arg1348=) n.4628G>A c.3096G>A (p.Arg1032=) c.2586G>A (p.Arg862=) c.*3042G>A (n.*3042G>A) c.4440G>A (p.Arg1480=) c.4422G>A (p.Arg1474=) | |
| 22 | g.50722276G>C | CA515264994 | SHANK3 | c.4044G>C (p.Arg1348=) n.4628G>C c.3096G>C (p.Arg1032=) c.2586G>C (p.Arg862=) c.*3042G>C (n.*3042G>C) c.4440G>C (p.Arg1480=) c.4422G>C (p.Arg1474=) | |
| 22 | g.50722276G>T | CA515264995 | SHANK3 | c.4044G>T (p.Arg1348=) n.4628G>T c.3096G>T (p.Arg1032=) c.2586G>T (p.Arg862=) c.*3042G>T (n.*3042G>T) c.4440G>T (p.Arg1480=) c.4422G>T (p.Arg1474=) | |
| 22 | g.50722277G>A | CA515264997 | SHANK3 | c.4045G>A (p.Gly1349Arg) n.4629G>A c.3097G>A (p.Gly1033Arg) c.2587G>A (p.Gly863Arg) c.*3043G>A (n.*3043G>A) c.4441G>A (p.Gly1481Arg) c.4423G>A (p.Gly1475Arg) | gnomAD v4 |
| 22 | g.50722277G>C | CA515264998 | SHANK3 | c.4045G>C (p.Gly1349Arg) n.4629G>C c.3097G>C (p.Gly1033Arg) c.2587G>C (p.Gly863Arg) c.*3043G>C (n.*3043G>C) c.4441G>C (p.Gly1481Arg) c.4423G>C (p.Gly1475Arg) | |
| 22 | g.50722277G>T | CA515264999 | SHANK3 | c.4045G>T (p.Gly1349Trp) n.4629G>T c.3097G>T (p.Gly1033Trp) c.2587G>T (p.Gly863Trp) c.*3043G>T (n.*3043G>T) c.4441G>T (p.Gly1481Trp) c.4423G>T (p.Gly1475Trp) | |
| 22 | g.50722278G>A | CA515265000 | SHANK3 | c.4046G>A (p.Gly1349Glu) n.4630G>A c.3098G>A (p.Gly1033Glu) c.2588G>A (p.Gly863Glu) c.*3044G>A (n.*3044G>A) c.4442G>A (p.Gly1481Glu) c.4424G>A (p.Gly1475Glu) | gnomAD v4 |
| 22 | g.50722278G>C | CA515265001 | SHANK3 | c.4046G>C (p.Gly1349Ala) n.4630G>C c.3098G>C (p.Gly1033Ala) c.2588G>C (p.Gly863Ala) c.*3044G>C (n.*3044G>C) c.4442G>C (p.Gly1481Ala) c.4424G>C (p.Gly1475Ala) | gnomAD v4 |
| 22 | g.50722278G>T | CA515265003 | SHANK3 | c.4046G>T (p.Gly1349Val) n.4630G>T c.3098G>T (p.Gly1033Val) c.2588G>T (p.Gly863Val) c.*3044G>T (n.*3044G>T) c.4442G>T (p.Gly1481Val) c.4424G>T (p.Gly1475Val) | |
| 22 | g.50722279G>A | CA10326286 | SHANK3 | c.4047G>A (p.Gly1349=) n.4631G>A c.3099G>A (p.Gly1033=) c.2589G>A (p.Gly863=) c.*3045G>A (n.*3045G>A) c.4443G>A (p.Gly1481=) c.4425G>A (p.Gly1475=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50722279G>C | CA515265004 | SHANK3 | c.4047G>C (p.Gly1349=) n.4631G>C c.3099G>C (p.Gly1033=) c.2589G>C (p.Gly863=) c.*3045G>C (n.*3045G>C) c.4443G>C (p.Gly1481=) c.4425G>C (p.Gly1475=) | |
| 22 | g.50722279G= | CA2411008717 | SHANK3 | c.4047G= (p.Gly1349=) n.4631G= c.3099G= (p.Gly1033=) c.2589G= (p.Gly863=) c.*3045G= (n.*3045G=) c.4443G= (p.Gly1481=) c.4425G= (p.Gly1475=) | |
| 22 | g.50722279G>T | CA515265006 | SHANK3 | c.4047G>T (p.Gly1349=) n.4631G>T c.3099G>T (p.Gly1033=) c.2589G>T (p.Gly863=) c.*3045G>T (n.*3045G>T) c.4443G>T (p.Gly1481=) c.4425G>T (p.Gly1475=) | |
| 22 | g.50722280C>A | CA515265009 | SHANK3 | c.4048C>A (p.Leu1350Ile) n.4632C>A c.3100C>A (p.Leu1034Ile) c.2590C>A (p.Leu864Ile) c.*3046C>A (n.*3046C>A) c.4444C>A (p.Leu1482Ile) c.4426C>A (p.Leu1476Ile) | |
| 22 | g.50722280C>G | CA515265010 | SHANK3 | c.4048C>G (p.Leu1350Val) n.4632C>G c.3100C>G (p.Leu1034Val) c.2590C>G (p.Leu864Val) c.*3046C>G (n.*3046C>G) c.4444C>G (p.Leu1482Val) c.4426C>G (p.Leu1476Val) | |
| 22 | g.50722280C>T | CA515265011 | SHANK3 | c.4048C>T (p.Leu1350Phe) n.4632C>T c.3100C>T (p.Leu1034Phe) c.2590C>T (p.Leu864Phe) c.*3046C>T (n.*3046C>T) c.4444C>T (p.Leu1482Phe) c.4426C>T (p.Leu1476Phe) | gnomAD v4 |
| 22 | g.50722281T>A | CA515265013 | SHANK3 | c.4049T>A (p.Leu1350His) n.4633T>A c.3101T>A (p.Leu1034His) c.2591T>A (p.Leu864His) c.*3047T>A (n.*3047T>A) c.4445T>A (p.Leu1482His) c.4427T>A (p.Leu1476His) | |
| 22 | g.50722281T>C | CA515265014 | SHANK3 | c.4049T>C (p.Leu1350Pro) n.4633T>C c.3101T>C (p.Leu1034Pro) c.2591T>C (p.Leu864Pro) c.*3047T>C (n.*3047T>C) c.4445T>C (p.Leu1482Pro) c.4427T>C (p.Leu1476Pro) | |
| 22 | g.50722281T>G | CA515265012 | SHANK3 | c.4049T>G (p.Leu1350Arg) n.4633T>G c.3101T>G (p.Leu1034Arg) c.2591T>G (p.Leu864Arg) c.*3047T>G (n.*3047T>G) c.4445T>G (p.Leu1482Arg) c.4427T>G (p.Leu1476Arg) | |
| 22 | g.50722282C>A | CA515265016 | SHANK3 | c.4050C>A (p.Leu1350=) n.4634C>A c.3102C>A (p.Leu1034=) c.2592C>A (p.Leu864=) c.*3048C>A (n.*3048C>A) c.4446C>A (p.Leu1482=) c.4428C>A (p.Leu1476=) | |
| 22 | g.50722282C= | CA2411008718 | SHANK3 | c.4050C= (p.Leu1350=) n.4634C= c.3102C= (p.Leu1034=) c.2592C= (p.Leu864=) c.*3048C= (n.*3048C=) c.4446C= (p.Leu1482=) c.4428C= (p.Leu1476=) | |
| 22 | g.50722282C>G | CA515265015 | SHANK3 | c.4050C>G (p.Leu1350=) n.4634C>G c.3102C>G (p.Leu1034=) c.2592C>G (p.Leu864=) c.*3048C>G (n.*3048C>G) c.4446C>G (p.Leu1482=) c.4428C>G (p.Leu1476=) | |
| 22 | g.50722282C>T | CA10326287 | SHANK3 | c.4050C>T (p.Leu1350=) n.4634C>T c.3102C>T (p.Leu1034=) c.2592C>T (p.Leu864=) c.*3048C>T (n.*3048C>T) c.4446C>T (p.Leu1482=) c.4428C>T (p.Leu1476=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50722283C>A | CA515265019 | SHANK3 | c.4051C>A (p.Pro1351Thr) n.4635C>A c.3103C>A (p.Pro1035Thr) c.2593C>A (p.Pro865Thr) c.*3049C>A (n.*3049C>A) c.4447C>A (p.Pro1483Thr) c.4429C>A (p.Pro1477Thr) | |
| 22 | g.50722283C= | CA2411008719 | SHANK3 | c.4051C= (p.Pro1351=) n.4635C= c.3103C= (p.Pro1035=) c.2593C= (p.Pro865=) c.*3049C= (n.*3049C=) c.4447C= (p.Pro1483=) c.4429C= (p.Pro1477=) | |
| 22 | g.50722283C>G | CA515265020 | SHANK3 | c.4051C>G (p.Pro1351Ala) n.4635C>G c.3103C>G (p.Pro1035Ala) c.2593C>G (p.Pro865Ala) c.*3049C>G (n.*3049C>G) c.4447C>G (p.Pro1483Ala) c.4429C>G (p.Pro1477Ala) | |
| 22 | g.50722283C>T | CA10326288 | SHANK3 | c.4051C>T (p.Pro1351Ser) n.4635C>T c.3103C>T (p.Pro1035Ser) c.2593C>T (p.Pro865Ser) c.*3049C>T (n.*3049C>T) c.4447C>T (p.Pro1483Ser) c.4429C>T (p.Pro1477Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50722284C>A | CA515265021 | SHANK3 | c.4052C>A (p.Pro1351His) n.4636C>A c.3104C>A (p.Pro1035His) c.2594C>A (p.Pro865His) c.*3050C>A (n.*3050C>A) c.4448C>A (p.Pro1483His) c.4430C>A (p.Pro1477His) | |
| 22 | g.50722284C>G | CA515265022 | SHANK3 | c.4052C>G (p.Pro1351Arg) n.4636C>G c.3104C>G (p.Pro1035Arg) c.2594C>G (p.Pro865Arg) c.*3050C>G (n.*3050C>G) c.4448C>G (p.Pro1483Arg) c.4430C>G (p.Pro1477Arg) | |
| 22 | g.50722284C>T | CA515265024 | SHANK3 | c.4052C>T (p.Pro1351Leu) n.4636C>T c.3104C>T (p.Pro1035Leu) c.2594C>T (p.Pro865Leu) c.*3050C>T (n.*3050C>T) c.4448C>T (p.Pro1483Leu) c.4430C>T (p.Pro1477Leu) | |
| 22 | g.50722285T>A | CA515265026 | SHANK3 | c.4053T>A (p.Pro1351=) n.4637T>A c.3105T>A (p.Pro1035=) c.2595T>A (p.Pro865=) c.*3051T>A (n.*3051T>A) c.4449T>A (p.Pro1483=) c.4431T>A (p.Pro1477=) | |
| 22 | g.50722285T>C | CA515265027 | SHANK3 | c.4053T>C (p.Pro1351=) n.4637T>C c.3105T>C (p.Pro1035=) c.2595T>C (p.Pro865=) c.*3051T>C (n.*3051T>C) c.4449T>C (p.Pro1483=) c.4431T>C (p.Pro1477=) | |
| 22 | g.50722285T>G | CA515265030 | SHANK3 | c.4053T>G (p.Pro1351=) n.4637T>G c.3105T>G (p.Pro1035=) c.2595T>G (p.Pro865=) c.*3051T>G (n.*3051T>G) c.4449T>G (p.Pro1483=) c.4431T>G (p.Pro1477=) | |
| 22 | g.50722286G>A | CA515265031 | SHANK3 | c.4054G>A (p.Gly1352Arg) n.4638G>A c.3106G>A (p.Gly1036Arg) c.2596G>A (p.Gly866Arg) c.*3052G>A (n.*3052G>A) c.4450G>A (p.Gly1484Arg) c.4432G>A (p.Gly1478Arg) | |
| 22 | g.50722286G>C | CA515265032 | SHANK3 | c.4054G>C (p.Gly1352Arg) n.4638G>C c.3106G>C (p.Gly1036Arg) c.2596G>C (p.Gly866Arg) c.*3052G>C (n.*3052G>C) c.4450G>C (p.Gly1484Arg) c.4432G>C (p.Gly1478Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50722286G= | CA2411008720 | SHANK3 | c.4054G= (p.Gly1352=) n.4638G= c.3106G= (p.Gly1036=) c.2596G= (p.Gly866=) c.*3052G= (n.*3052G=) c.4450G= (p.Gly1484=) c.4432G= (p.Gly1478=) | |
| 22 | g.50722286G>T | CA515265033 | SHANK3 | c.4054G>T (p.Gly1352Trp) n.4638G>T c.3106G>T (p.Gly1036Trp) c.2596G>T (p.Gly866Trp) c.*3052G>T (n.*3052G>T) c.4450G>T (p.Gly1484Trp) c.4432G>T (p.Gly1478Trp) | gnomAD v4 |
| 22 | g.50722287G>A | CA515265035 | SHANK3 | c.4055G>A (p.Gly1352Glu) n.4639G>A c.3107G>A (p.Gly1036Glu) c.2597G>A (p.Gly866Glu) c.*3053G>A (n.*3053G>A) c.4451G>A (p.Gly1484Glu) c.4433G>A (p.Gly1478Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50722287G>C | CA515265034 | SHANK3 | c.4055G>C (p.Gly1352Ala) n.4639G>C c.3107G>C (p.Gly1036Ala) c.2597G>C (p.Gly866Ala) c.*3053G>C (n.*3053G>C) c.4451G>C (p.Gly1484Ala) c.4433G>C (p.Gly1478Ala) | |
| 22 | g.50722287G= | CA2411008721 | SHANK3 | c.4055G= (p.Gly1352=) n.4639G= c.3107G= (p.Gly1036=) c.2597G= (p.Gly866=) c.*3053G= (n.*3053G=) c.4451G= (p.Gly1484=) c.4433G= (p.Gly1478=) | |
| 22 | g.50722287G>T | CA10326289 | SHANK3 | c.4055G>T (p.Gly1352Val) n.4639G>T c.3107G>T (p.Gly1036Val) c.2597G>T (p.Gly866Val) c.*3053G>T (n.*3053G>T) c.4451G>T (p.Gly1484Val) c.4433G>T (p.Gly1478Val) | dbSNP ExAC gnomAD v2 |
| 22 | g.50722288G>A | CA325580371 | SHANK3 | c.4056G>A (p.Gly1352=) n.4640G>A c.3108G>A (p.Gly1036=) c.2598G>A (p.Gly866=) c.*3054G>A (n.*3054G>A) c.4452G>A (p.Gly1484=) c.4434G>A (p.Gly1478=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 22 | g.50722288G>C | CA515265036 | SHANK3 | c.4056G>C (p.Gly1352=) n.4640G>C c.3108G>C (p.Gly1036=) c.2598G>C (p.Gly866=) c.*3054G>C (n.*3054G>C) c.4452G>C (p.Gly1484=) c.4434G>C (p.Gly1478=) | |
| 22 | g.50722288G= | CA2411008722 | SHANK3 | c.4056G= (p.Gly1352=) n.4640G= c.3108G= (p.Gly1036=) c.2598G= (p.Gly866=) c.*3054G= (n.*3054G=) c.4452G= (p.Gly1484=) c.4434G= (p.Gly1478=) | |
| 22 | g.50722288G>T | CA515265038 | SHANK3 | c.4056G>T (p.Gly1352=) n.4640G>T c.3108G>T (p.Gly1036=) c.2598G>T (p.Gly866=) c.*3054G>T (n.*3054G>T) c.4452G>T (p.Gly1484=) c.4434G>T (p.Gly1478=) | COSMIC COSMIC |
| 22 | g.50722289C>A | CA515265040 | SHANK3 | c.4057C>A (p.Pro1353Thr) n.4641C>A c.3109C>A (p.Pro1037Thr) c.2599C>A (p.Pro867Thr) c.*3055C>A (n.*3055C>A) c.4453C>A (p.Pro1485Thr) c.4435C>A (p.Pro1479Thr) | |
| 22 | g.50722289C= | CA2411008723 | SHANK3 | c.4057C= (p.Pro1353=) n.4641C= c.3109C= (p.Pro1037=) c.2599C= (p.Pro867=) c.*3055C= (n.*3055C=) c.4453C= (p.Pro1485=) c.4435C= (p.Pro1479=) | |
| 22 | g.50722289C>G | CA515265043 | SHANK3 | c.4057C>G (p.Pro1353Ala) n.4641C>G c.3109C>G (p.Pro1037Ala) c.2599C>G (p.Pro867Ala) c.*3055C>G (n.*3055C>G) c.4453C>G (p.Pro1485Ala) c.4435C>G (p.Pro1479Ala) | |
| 22 | g.50722289C>T | CA515265045 | SHANK3 | c.4057C>T (p.Pro1353Ser) n.4641C>T c.3109C>T (p.Pro1037Ser) c.2599C>T (p.Pro867Ser) c.*3055C>T (n.*3055C>T) c.4453C>T (p.Pro1485Ser) c.4435C>T (p.Pro1479Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50722290C>A | CA515265046 | SHANK3 | c.4058C>A (p.Pro1353His) n.4642C>A c.3110C>A (p.Pro1037His) c.2600C>A (p.Pro867His) c.*3056C>A (n.*3056C>A) c.4454C>A (p.Pro1485His) c.4436C>A (p.Pro1479His) | dbSNP gnomAD v2 |
| 22 | g.50722290C= | CA2411008724 | SHANK3 | c.4058C= (p.Pro1353=) n.4642C= c.3110C= (p.Pro1037=) c.2600C= (p.Pro867=) c.*3056C= (n.*3056C=) c.4454C= (p.Pro1485=) c.4436C= (p.Pro1479=) | |
| 22 | g.50722290C>G | CA515265047 | SHANK3 | c.4058C>G (p.Pro1353Arg) n.4642C>G c.3110C>G (p.Pro1037Arg) c.2600C>G (p.Pro867Arg) c.*3056C>G (n.*3056C>G) c.4454C>G (p.Pro1485Arg) c.4436C>G (p.Pro1479Arg) | |
| 22 | g.50722290C>T | CA515265048 | SHANK3 | c.4058C>T (p.Pro1353Leu) n.4642C>T c.3110C>T (p.Pro1037Leu) c.2600C>T (p.Pro867Leu) c.*3056C>T (n.*3056C>T) c.4454C>T (p.Pro1485Leu) c.4436C>T (p.Pro1479Leu) | |
| 22 | g.50722291T>A | CA515265049 | SHANK3 | c.4059T>A (p.Pro1353=) n.4643T>A c.3111T>A (p.Pro1037=) c.2601T>A (p.Pro867=) c.*3057T>A (n.*3057T>A) c.4455T>A (p.Pro1485=) c.4437T>A (p.Pro1479=) | |
| 22 | g.50722291T>C | CA10326290 | SHANK3 | c.4059T>C (p.Pro1353=) n.4643T>C c.3111T>C (p.Pro1037=) c.2601T>C (p.Pro867=) c.*3057T>C (n.*3057T>C) c.4455T>C (p.Pro1485=) c.4437T>C (p.Pro1479=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50722291T>G | CA515265053 | SHANK3 | c.4059T>G (p.Pro1353=) n.4643T>G c.3111T>G (p.Pro1037=) c.2601T>G (p.Pro867=) c.*3057T>G (n.*3057T>G) c.4455T>G (p.Pro1485=) c.4437T>G (p.Pro1479=) | |
| 22 | g.50722291T= | CA2411008725 | SHANK3 | c.4059T= (p.Pro1353=) n.4643T= c.3111T= (p.Pro1037=) c.2601T= (p.Pro867=) c.*3057T= (n.*3057T=) c.4455T= (p.Pro1485=) c.4437T= (p.Pro1479=) | |
| 22 | g.50722292G>A | CA325580389 | SHANK3 | c.4060G>A (p.Glu1354Lys) n.4644G>A c.3112G>A (p.Glu1038Lys) c.2602G>A (p.Glu868Lys) c.*3058G>A (n.*3058G>A) c.4456G>A (p.Glu1486Lys) c.4438G>A (p.Glu1480Lys) | dbSNP gnomAD v4 |
| 22 | g.50722292G>C | CA515265055 | SHANK3 | c.4060G>C (p.Glu1354Gln) n.4644G>C c.3112G>C (p.Glu1038Gln) c.2602G>C (p.Glu868Gln) c.*3058G>C (n.*3058G>C) c.4456G>C (p.Glu1486Gln) c.4438G>C (p.Glu1480Gln) | |
| 22 | g.50722292G= | CA2411008726 | SHANK3 | c.4060G= (p.Glu1354=) n.4644G= c.3112G= (p.Glu1038=) c.2602G= (p.Glu868=) c.*3058G= (n.*3058G=) c.4456G= (p.Glu1486=) c.4438G= (p.Glu1480=) | |
| 22 | g.50722292G>T | CA515265054 | SHANK3 | c.4060G>T (p.Glu1354Ter) n.4644G>T c.3112G>T (p.Glu1038Ter) c.2602G>T (p.Glu868Ter) c.*3058G>T (n.*3058G>T) c.4456G>T (p.Glu1486Ter) c.4438G>T (p.Glu1480Ter) | |
| 22 | g.50722293A>C | CA515265057 | SHANK3 | c.4061A>C (p.Glu1354Ala) n.4645A>C c.3113A>C (p.Glu1038Ala) c.2603A>C (p.Glu868Ala) c.*3059A>C (n.*3059A>C) c.4457A>C (p.Glu1486Ala) c.4439A>C (p.Glu1480Ala) | |
| 22 | g.50722293A>G | CA515265059 | SHANK3 | c.4061A>G (p.Glu1354Gly) n.4645A>G c.3113A>G (p.Glu1038Gly) c.2603A>G (p.Glu868Gly) c.*3059A>G (n.*3059A>G) c.4457A>G (p.Glu1486Gly) c.4439A>G (p.Glu1480Gly) | |
| 22 | g.50722293A>T | CA515265061 | SHANK3 | c.4061A>T (p.Glu1354Val) n.4645A>T c.3113A>T (p.Glu1038Val) c.2603A>T (p.Glu868Val) c.*3059A>T (n.*3059A>T) c.4457A>T (p.Glu1486Val) c.4439A>T (p.Glu1480Val) | gnomAD v4 |
| 22 | g.50722294A>C | CA515265062 | SHANK3 | c.4062A>C (p.Glu1354Asp) n.4646A>C c.3114A>C (p.Glu1038Asp) c.2604A>C (p.Glu868Asp) c.*3060A>C (n.*3060A>C) c.4458A>C (p.Glu1486Asp) c.4440A>C (p.Glu1480Asp) | |
| 22 | g.50722294A>G | CA515265064 | SHANK3 | c.4062A>G (p.Glu1354=) n.4646A>G c.3114A>G (p.Glu1038=) c.2604A>G (p.Glu868=) c.*3060A>G (n.*3060A>G) c.4458A>G (p.Glu1486=) c.4440A>G (p.Glu1480=) | |
| 22 | g.50722294A>T | CA515265065 | SHANK3 | c.4062A>T (p.Glu1354Asp) n.4646A>T c.3114A>T (p.Glu1038Asp) c.2604A>T (p.Glu868Asp) c.*3060A>T (n.*3060A>T) c.4458A>T (p.Glu1486Asp) c.4440A>T (p.Glu1480Asp) | |
| 22 | g.50722295G>A | CA515265067 | SHANK3 | c.4063G>A (p.Asp1355Asn) n.4647G>A c.3115G>A (p.Asp1039Asn) c.2605G>A (p.Asp869Asn) c.*3061G>A (n.*3061G>A) c.4459G>A (p.Asp1487Asn) c.4441G>A (p.Asp1481Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50722295G>C | CA515265068 | SHANK3 | c.4063G>C (p.Asp1355His) n.4647G>C c.3115G>C (p.Asp1039His) c.2605G>C (p.Asp869His) c.*3061G>C (n.*3061G>C) c.4459G>C (p.Asp1487His) c.4441G>C (p.Asp1481His) | gnomAD v4 |
| 22 | g.50722295G= | CA2411008727 | SHANK3 | c.4063G= (p.Asp1355=) n.4647G= c.3115G= (p.Asp1039=) c.2605G= (p.Asp869=) c.*3061G= (n.*3061G=) c.4459G= (p.Asp1487=) c.4441G= (p.Asp1481=) | |
| 22 | g.50722295G>T | CA515265069 | SHANK3 | c.4063G>T (p.Asp1355Tyr) n.4647G>T c.3115G>T (p.Asp1039Tyr) c.2605G>T (p.Asp869Tyr) c.*3061G>T (n.*3061G>T) c.4459G>T (p.Asp1487Tyr) c.4441G>T (p.Asp1481Tyr) | |
| 22 | g.50722296A= | CA2411008728 | SHANK3 | c.4064A= (p.Asp1355=) n.4648A= c.3116A= (p.Asp1039=) c.2606A= (p.Asp869=) c.*3062A= (n.*3062A=) c.4460A= (p.Asp1487=) c.4442A= (p.Asp1481=) | |
| 22 | g.50722296A>C | CA515265071 | SHANK3 | c.4064A>C (p.Asp1355Ala) n.4648A>C c.3116A>C (p.Asp1039Ala) c.2606A>C (p.Asp869Ala) c.*3062A>C (n.*3062A>C) c.4460A>C (p.Asp1487Ala) c.4442A>C (p.Asp1481Ala) | |
| 22 | g.50722296A>G | CA325580390 | SHANK3 | c.4064A>G (p.Asp1355Gly) n.4648A>G c.3116A>G (p.Asp1039Gly) c.2606A>G (p.Asp869Gly) c.*3062A>G (n.*3062A>G) c.4460A>G (p.Asp1487Gly) c.4442A>G (p.Asp1481Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50722296A>T | CA515265072 | SHANK3 | c.4064A>T (p.Asp1355Val) n.4648A>T c.3116A>T (p.Asp1039Val) c.2606A>T (p.Asp869Val) c.*3062A>T (n.*3062A>T) c.4460A>T (p.Asp1487Val) c.4442A>T (p.Asp1481Val) | |
| 22 | g.50722297C>A | CA515265074 | SHANK3 | c.4065C>A (p.Asp1355Glu) n.4649C>A c.3117C>A (p.Asp1039Glu) c.2607C>A (p.Asp869Glu) c.*3063C>A (n.*3063C>A) c.4461C>A (p.Asp1487Glu) c.4443C>A (p.Asp1481Glu) | |
| 22 | g.50722297C= | CA2411008729 | SHANK3 | c.4065C= (p.Asp1355=) n.4649C= c.3117C= (p.Asp1039=) c.2607C= (p.Asp869=) c.*3063C= (n.*3063C=) c.4461C= (p.Asp1487=) c.4443C= (p.Asp1481=) | |
| 22 | g.50722297C>G | CA515265073 | SHANK3 | c.4065C>G (p.Asp1355Glu) n.4649C>G c.3117C>G (p.Asp1039Glu) c.2607C>G (p.Asp869Glu) c.*3063C>G (n.*3063C>G) c.4461C>G (p.Asp1487Glu) c.4443C>G (p.Asp1481Glu) | dbSNP gnomAD v4 |
| 22 | g.50722297C>T | CA10326291 | SHANK3 | c.4065C>T (p.Asp1355=) n.4649C>T c.3117C>T (p.Asp1039=) c.2607C>T (p.Asp869=) c.*3063C>T (n.*3063C>T) c.4461C>T (p.Asp1487=) c.4443C>T (p.Asp1481=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50722298G>A | CA10326292 | SHANK3 | c.4066G>A (p.Asp1356Asn) n.4650G>A c.3118G>A (p.Asp1040Asn) c.2608G>A (p.Asp870Asn) c.*3064G>A (n.*3064G>A) c.4462G>A (p.Asp1488Asn) c.4444G>A (p.Asp1482Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50722298G>C | CA515265076 | SHANK3 | c.4066G>C (p.Asp1356His) n.4650G>C c.3118G>C (p.Asp1040His) c.2608G>C (p.Asp870His) c.*3064G>C (n.*3064G>C) c.4462G>C (p.Asp1488His) c.4444G>C (p.Asp1482His) | |
| 22 | g.50722298G= | CA2411008730 | SHANK3 | c.4066G= (p.Asp1356=) n.4650G= c.3118G= (p.Asp1040=) c.2608G= (p.Asp870=) c.*3064G= (n.*3064G=) c.4462G= (p.Asp1488=) c.4444G= (p.Asp1482=) | |
| 22 | g.50722298G>T | CA515265078 | SHANK3 | c.4066G>T (p.Asp1356Tyr) n.4650G>T c.3118G>T (p.Asp1040Tyr) c.2608G>T (p.Asp870Tyr) c.*3064G>T (n.*3064G>T) c.4462G>T (p.Asp1488Tyr) c.4444G>T (p.Asp1482Tyr) | ClinVar dbSNP |
| 22 | g.50722299A= | CA2411008731 | SHANK3 | c.4067A= (p.Asp1356=) n.4651A= c.3119A= (p.Asp1040=) c.2609A= (p.Asp870=) c.*3065A= (n.*3065A=) c.4463A= (p.Asp1488=) c.4445A= (p.Asp1482=) | |
| 22 | g.50722299A>C | CA515265080 | SHANK3 | c.4067A>C (p.Asp1356Ala) n.4651A>C c.3119A>C (p.Asp1040Ala) c.2609A>C (p.Asp870Ala) c.*3065A>C (n.*3065A>C) c.4463A>C (p.Asp1488Ala) c.4445A>C (p.Asp1482Ala) | |
| 22 | g.50722299A>G | CA10326293 | SHANK3 | c.4067A>G (p.Asp1356Gly) n.4651A>G c.3119A>G (p.Asp1040Gly) c.2609A>G (p.Asp870Gly) c.*3065A>G (n.*3065A>G) c.4463A>G (p.Asp1488Gly) c.4445A>G (p.Asp1482Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50722299A>T | CA515265085 | SHANK3 | c.4067A>T (p.Asp1356Val) n.4651A>T c.3119A>T (p.Asp1040Val) c.2609A>T (p.Asp870Val) c.*3065A>T (n.*3065A>T) c.4463A>T (p.Asp1488Val) c.4445A>T (p.Asp1482Val) | |
| 22 | g.50722300C>A | CA515265088 | SHANK3 | c.4068C>A (p.Asp1356Glu) n.4652C>A c.3120C>A (p.Asp1040Glu) c.2610C>A (p.Asp870Glu) c.*3066C>A (n.*3066C>A) c.4464C>A (p.Asp1488Glu) c.4446C>A (p.Asp1482Glu) | |
| 22 | g.50722300C>G | CA515265089 | SHANK3 | c.4068C>G (p.Asp1356Glu) n.4652C>G c.3120C>G (p.Asp1040Glu) c.2610C>G (p.Asp870Glu) c.*3066C>G (n.*3066C>G) c.4464C>G (p.Asp1488Glu) c.4446C>G (p.Asp1482Glu) | |
| 22 | g.50722300C>T | CA515265090 | SHANK3 | c.4068C>T (p.Asp1356=) n.4652C>T c.3120C>T (p.Asp1040=) c.2610C>T (p.Asp870=) c.*3066C>T (n.*3066C>T) c.4464C>T (p.Asp1488=) c.4446C>T (p.Asp1482=) | gnomAD v4 |
| 22 | g.50722301A>C | CA515265091 | SHANK3 | c.4069A>C (p.Lys1357Gln) n.4653A>C c.3121A>C (p.Lys1041Gln) c.2611A>C (p.Lys871Gln) c.*3067A>C (n.*3067A>C) c.4465A>C (p.Lys1489Gln) c.4447A>C (p.Lys1483Gln) | |
| 22 | g.50722301A>G | CA515265092 | SHANK3 | c.4069A>G (p.Lys1357Glu) n.4653A>G c.3121A>G (p.Lys1041Glu) c.2611A>G (p.Lys871Glu) c.*3067A>G (n.*3067A>G) c.4465A>G (p.Lys1489Glu) c.4447A>G (p.Lys1483Glu) | |
| 22 | g.50722301A>T | CA515265093 | SHANK3 | c.4069A>T (p.Lys1357Ter) n.4653A>T c.3121A>T (p.Lys1041Ter) c.2611A>T (p.Lys871Ter) c.*3067A>T (n.*3067A>T) c.4465A>T (p.Lys1489Ter) c.4447A>T (p.Lys1483Ter) | |
| 22 | g.50722302A>C | CA515265097 | SHANK3 | c.4070A>C (p.Lys1357Thr) n.4654A>C c.3122A>C (p.Lys1041Thr) c.2612A>C (p.Lys871Thr) c.*3068A>C (n.*3068A>C) c.4466A>C (p.Lys1489Thr) c.4448A>C (p.Lys1483Thr) | gnomAD v4 |
| 22 | g.50722302A>G | CA515265095 | SHANK3 | c.4070A>G (p.Lys1357Arg) n.4654A>G c.3122A>G (p.Lys1041Arg) c.2612A>G (p.Lys871Arg) c.*3068A>G (n.*3068A>G) c.4466A>G (p.Lys1489Arg) c.4448A>G (p.Lys1483Arg) | |
| 22 | g.50722302A>T | CA515265094 | SHANK3 | c.4070A>T (p.Lys1357Ile) n.4654A>T c.3122A>T (p.Lys1041Ile) c.2612A>T (p.Lys871Ile) c.*3068A>T (n.*3068A>T) c.4466A>T (p.Lys1489Ile) c.4448A>T (p.Lys1483Ile) | |
| 22 | g.50722303A>C | CA515265099 | SHANK3 | c.4071A>C (p.Lys1357Asn) n.4655A>C c.3123A>C (p.Lys1041Asn) c.2613A>C (p.Lys871Asn) c.*3069A>C (n.*3069A>C) c.4467A>C (p.Lys1489Asn) c.4449A>C (p.Lys1483Asn) | |
| 22 | g.50722303A>G | CA515265102 | SHANK3 | c.4071A>G (p.Lys1357=) n.4655A>G c.3123A>G (p.Lys1041=) c.2613A>G (p.Lys871=) c.*3069A>G (n.*3069A>G) c.4467A>G (p.Lys1489=) c.4449A>G (p.Lys1483=) | |
| 22 | g.50722303A>T | CA515265104 | SHANK3 | c.4071A>T (p.Lys1357Asn) n.4655A>T c.3123A>T (p.Lys1041Asn) c.2613A>T (p.Lys871Asn) c.*3069A>T (n.*3069A>T) c.4467A>T (p.Lys1489Asn) c.4449A>T (p.Lys1483Asn) | |
| 22 | g.50722304C>A | CA515265107 | SHANK3 | c.4072C>A (p.Pro1358Thr) n.4656C>A c.3124C>A (p.Pro1042Thr) c.2614C>A (p.Pro872Thr) c.*3070C>A (n.*3070C>A) c.4468C>A (p.Pro1490Thr) c.4450C>A (p.Pro1484Thr) | |
| 22 | g.50722304C>G | CA515265108 | SHANK3 | c.4072C>G (p.Pro1358Ala) n.4656C>G c.3124C>G (p.Pro1042Ala) c.2614C>G (p.Pro872Ala) c.*3070C>G (n.*3070C>G) c.4468C>G (p.Pro1490Ala) c.4450C>G (p.Pro1484Ala) | |
| 22 | g.50722304C>T | CA515265109 | SHANK3 | c.4072C>T (p.Pro1358Ser) n.4656C>T c.3124C>T (p.Pro1042Ser) c.2614C>T (p.Pro872Ser) c.*3070C>T (n.*3070C>T) c.4468C>T (p.Pro1490Ser) c.4450C>T (p.Pro1484Ser) | ClinVar gnomAD v4 |
| 22 | g.50722305C>A | CA515265112 | SHANK3 | c.4073C>A (p.Pro1358Gln) n.4657C>A c.3125C>A (p.Pro1042Gln) c.2615C>A (p.Pro872Gln) c.*3071C>A (n.*3071C>A) c.4469C>A (p.Pro1490Gln) c.4451C>A (p.Pro1484Gln) | |
| 22 | g.50722305C>G | CA515265111 | SHANK3 | c.4073C>G (p.Pro1358Arg) n.4657C>G c.3125C>G (p.Pro1042Arg) c.2615C>G (p.Pro872Arg) c.*3071C>G (n.*3071C>G) c.4469C>G (p.Pro1490Arg) c.4451C>G (p.Pro1484Arg) | |
| 22 | g.50722305C>T | CA515265110 | SHANK3 | c.4073C>T (p.Pro1358Leu) n.4657C>T c.3125C>T (p.Pro1042Leu) c.2615C>T (p.Pro872Leu) c.*3071C>T (n.*3071C>T) c.4469C>T (p.Pro1490Leu) c.4451C>T (p.Pro1484Leu) | |
| 22 | g.50722306A>C | CA515265113 | SHANK3 | c.4074A>C (p.Pro1358=) n.4658A>C c.3126A>C (p.Pro1042=) c.2616A>C (p.Pro872=) c.*3072A>C (n.*3072A>C) c.4470A>C (p.Pro1490=) c.4452A>C (p.Pro1484=) | |
| 22 | g.50722306A>G | CA515265114 | SHANK3 | c.4074A>G (p.Pro1358=) n.4658A>G c.3126A>G (p.Pro1042=) c.2616A>G (p.Pro872=) c.*3072A>G (n.*3072A>G) c.4470A>G (p.Pro1490=) c.4452A>G (p.Pro1484=) | |
| 22 | g.50722306A>T | CA515265115 | SHANK3 | c.4074A>T (p.Pro1358=) n.4658A>T c.3126A>T (p.Pro1042=) c.2616A>T (p.Pro872=) c.*3072A>T (n.*3072A>T) c.4470A>T (p.Pro1490=) c.4452A>T (p.Pro1484=) | |
| 22 | g.50722307A= | CA2411008732 | SHANK3 | c.4075A= (p.Thr1359=) n.4659A= c.3127A= (p.Thr1043=) c.2617A= (p.Thr873=) c.*3073A= (n.*3073A=) c.4471A= (p.Thr1491=) c.4453A= (p.Thr1485=) | |
| 22 | g.50722307A>C | CA515265116 | SHANK3 | c.4075A>C (p.Thr1359Pro) n.4659A>C c.3127A>C (p.Thr1043Pro) c.2617A>C (p.Thr873Pro) c.*3073A>C (n.*3073A>C) c.4471A>C (p.Thr1491Pro) c.4453A>C (p.Thr1485Pro) | |
| 22 | g.50722307A>G | CA515265117 | SHANK3 | c.4075A>G (p.Thr1359Ala) n.4659A>G c.3127A>G (p.Thr1043Ala) c.2617A>G (p.Thr873Ala) c.*3073A>G (n.*3073A>G) c.4471A>G (p.Thr1491Ala) c.4453A>G (p.Thr1485Ala) | dbSNP gnomAD v4 |
| 22 | g.50722307A>T | CA515265118 | SHANK3 | c.4075A>T (p.Thr1359Ser) n.4659A>T c.3127A>T (p.Thr1043Ser) c.2617A>T (p.Thr873Ser) c.*3073A>T (n.*3073A>T) c.4471A>T (p.Thr1491Ser) c.4453A>T (p.Thr1485Ser) | |
| 22 | g.50722308C>A | CA515265119 | SHANK3 | c.4076C>A (p.Thr1359Asn) n.4660C>A c.3128C>A (p.Thr1043Asn) c.2618C>A (p.Thr873Asn) c.*3074C>A (n.*3074C>A) c.4472C>A (p.Thr1491Asn) c.4454C>A (p.Thr1485Asn) | |
| 22 | g.50722308C= | CA2411008733 | SHANK3 | c.4076C= (p.Thr1359=) n.4660C= c.3128C= (p.Thr1043=) c.2618C= (p.Thr873=) c.*3074C= (n.*3074C=) c.4472C= (p.Thr1491=) c.4454C= (p.Thr1485=) | |
| 22 | g.50722308C>G | CA325580411 | SHANK3 | c.4076C>G (p.Thr1359Ser) n.4660C>G c.3128C>G (p.Thr1043Ser) c.2618C>G (p.Thr873Ser) c.*3074C>G (n.*3074C>G) c.4472C>G (p.Thr1491Ser) c.4454C>G (p.Thr1485Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50722308C>T | CA515265120 | SHANK3 | c.4076C>T (p.Thr1359Ile) n.4660C>T c.3128C>T (p.Thr1043Ile) c.2618C>T (p.Thr873Ile) c.*3074C>T (n.*3074C>T) c.4472C>T (p.Thr1491Ile) c.4454C>T (p.Thr1485Ile) | gnomAD v4 |
| 22 | g.50722309T>A | CA515265121 | SHANK3 | c.4077T>A (p.Thr1359=) n.4661T>A c.3129T>A (p.Thr1043=) c.2619T>A (p.Thr873=) c.*3075T>A (n.*3075T>A) c.4473T>A (p.Thr1491=) c.4455T>A (p.Thr1485=) | |
| 22 | g.50722309T>C | CA10326294 | SHANK3 | c.4077T>C (p.Thr1359=) n.4661T>C c.3129T>C (p.Thr1043=) c.2619T>C (p.Thr873=) c.*3075T>C (n.*3075T>C) c.4473T>C (p.Thr1491=) c.4455T>C (p.Thr1485=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50722309T>G | CA515265123 | SHANK3 | c.4077T>G (p.Thr1359=) n.4661T>G c.3129T>G (p.Thr1043=) c.2619T>G (p.Thr873=) c.*3075T>G (n.*3075T>G) c.4473T>G (p.Thr1491=) c.4455T>G (p.Thr1485=) | |
| 22 | g.50722309T= | CA2411008734 | SHANK3 | c.4077T= (p.Thr1359=) n.4661T= c.3129T= (p.Thr1043=) c.2619T= (p.Thr873=) c.*3075T= (n.*3075T=) c.4473T= (p.Thr1491=) c.4455T= (p.Thr1485=) | |
| 22 | g.50722311_50722312del | CA2740092008 | SHANK3 | c.4079_4080del (p.Val1360AspfsTer3) n.4663_4664del c.3131_3132del (p.Val1044AspfsTer3) c.2621_2622del (p.Val874AspfsTer3) c.*3077_*3078del (n.*3077_*3078del) c.4475_4476del (p.Val1492AspfsTer3) c.4457_4458del (p.Val1486AspfsTer3) | ClinVar |
| 22 | g.50722310G>A | CA515265124 | SHANK3 | c.4078G>A (p.Val1360Met) n.4662G>A c.3130G>A (p.Val1044Met) c.2620G>A (p.Val874Met) c.*3076G>A (n.*3076G>A) c.4474G>A (p.Val1492Met) c.4456G>A (p.Val1486Met) | dbSNP |
| 22 | g.50722310G>C | CA515265127 | SHANK3 | c.4078G>C (p.Val1360Leu) n.4662G>C c.3130G>C (p.Val1044Leu) c.2620G>C (p.Val874Leu) c.*3076G>C (n.*3076G>C) c.4474G>C (p.Val1492Leu) c.4456G>C (p.Val1486Leu) | |
| 22 | g.50722310G>T | CA515265128 | SHANK3 | c.4078G>T (p.Val1360Leu) n.4662G>T c.3130G>T (p.Val1044Leu) c.2620G>T (p.Val874Leu) c.*3076G>T (n.*3076G>T) c.4474G>T (p.Val1492Leu) c.4456G>T (p.Val1486Leu) | |
| 22 | g.50722311T>A | CA515265130 | SHANK3 | c.4079T>A (p.Val1360Glu) n.4663T>A c.3131T>A (p.Val1044Glu) c.2621T>A (p.Val874Glu) c.*3077T>A (n.*3077T>A) c.4475T>A (p.Val1492Glu) c.4457T>A (p.Val1486Glu) | |
| 22 | g.50722311T>C | CA515265131 | SHANK3 | c.4079T>C (p.Val1360Ala) n.4663T>C c.3131T>C (p.Val1044Ala) c.2621T>C (p.Val874Ala) c.*3077T>C (n.*3077T>C) c.4475T>C (p.Val1492Ala) c.4457T>C (p.Val1486Ala) | |
| 22 | g.50722311T>G | CA515265132 | SHANK3 | c.4079T>G (p.Val1360Gly) n.4663T>G c.3131T>G (p.Val1044Gly) c.2621T>G (p.Val874Gly) c.*3077T>G (n.*3077T>G) c.4475T>G (p.Val1492Gly) c.4457T>G (p.Val1486Gly) | |
| 22 | g.50722312G>A | CA10326295 | SHANK3 | c.4080G>A (p.Val1360=) n.4664G>A c.3132G>A (p.Val1044=) c.2622G>A (p.Val874=) c.*3078G>A (n.*3078G>A) c.4476G>A (p.Val1492=) c.4458G>A (p.Val1486=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50722312G>C | CA515265134 | SHANK3 | c.4080G>C (p.Val1360=) n.4664G>C c.3132G>C (p.Val1044=) c.2622G>C (p.Val874=) c.*3078G>C (n.*3078G>C) c.4476G>C (p.Val1492=) c.4458G>C (p.Val1486=) | |
| 22 | g.50722312G= | CA2411008735 | SHANK3 | c.4080G= (p.Val1360=) n.4664G= c.3132G= (p.Val1044=) c.2622G= (p.Val874=) c.*3078G= (n.*3078G=) c.4476G= (p.Val1492=) c.4458G= (p.Val1486=) | |
| 22 | g.50722312G>T | CA515265136 | SHANK3 | c.4080G>T (p.Val1360=) n.4664G>T c.3132G>T (p.Val1044=) c.2622G>T (p.Val874=) c.*3078G>T (n.*3078G>T) c.4476G>T (p.Val1492=) c.4458G>T (p.Val1486=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50722313A= | CA2411008736 | SHANK3 | c.4081A= (p.Ile1361=) n.4665A= c.3133A= (p.Ile1045=) c.2623A= (p.Ile875=) c.*3079A= (n.*3079A=) c.4477A= (p.Ile1493=) c.4459A= (p.Ile1487=) | |
| 22 | g.50722313A>C | CA515265138 | SHANK3 | c.4081A>C (p.Ile1361Leu) n.4665A>C c.3133A>C (p.Ile1045Leu) c.2623A>C (p.Ile875Leu) c.*3079A>C (n.*3079A>C) c.4477A>C (p.Ile1493Leu) c.4459A>C (p.Ile1487Leu) | |
| 22 | g.50722313A>G | CA515265140 | SHANK3 | c.4081A>G (p.Ile1361Val) n.4665A>G c.3133A>G (p.Ile1045Val) c.2623A>G (p.Ile875Val) c.*3079A>G (n.*3079A>G) c.4477A>G (p.Ile1493Val) c.4459A>G (p.Ile1487Val) | dbSNP gnomAD v4 COSMIC COSMIC |
| 22 | g.50722313A>T | CA515265139 | SHANK3 | c.4081A>T (p.Ile1361Phe) n.4665A>T c.3133A>T (p.Ile1045Phe) c.2623A>T (p.Ile875Phe) c.*3079A>T (n.*3079A>T) c.4477A>T (p.Ile1493Phe) c.4459A>T (p.Ile1487Phe) | |
| 22 | g.50722314T>A | CA515265141 | SHANK3 | c.4082T>A (p.Ile1361Asn) n.4666T>A c.3134T>A (p.Ile1045Asn) c.2624T>A (p.Ile875Asn) c.*3080T>A (n.*3080T>A) c.4478T>A (p.Ile1493Asn) c.4460T>A (p.Ile1487Asn) | |
| 22 | g.50722314T>C | CA515265142 | SHANK3 | c.4082T>C (p.Ile1361Thr) n.4666T>C c.3134T>C (p.Ile1045Thr) c.2624T>C (p.Ile875Thr) c.*3080T>C (n.*3080T>C) c.4478T>C (p.Ile1493Thr) c.4460T>C (p.Ile1487Thr) | |
| 22 | g.50722314T>G | CA515265143 | SHANK3 | c.4082T>G (p.Ile1361Ser) n.4666T>G c.3134T>G (p.Ile1045Ser) c.2624T>G (p.Ile875Ser) c.*3080T>G (n.*3080T>G) c.4478T>G (p.Ile1493Ser) c.4460T>G (p.Ile1487Ser) | |
| 22 | g.50722315C>A | CA515265144 | SHANK3 | c.4083C>A (p.Ile1361=) n.4667C>A c.3135C>A (p.Ile1045=) c.2625C>A (p.Ile875=) c.*3081C>A (n.*3081C>A) c.4479C>A (p.Ile1493=) c.4461C>A (p.Ile1487=) | |
| 22 | g.50722315C>G | CA515265146 | SHANK3 | c.4083C>G (p.Ile1361Met) n.4667C>G c.3135C>G (p.Ile1045Met) c.2625C>G (p.Ile875Met) c.*3081C>G (n.*3081C>G) c.4479C>G (p.Ile1493Met) c.4461C>G (p.Ile1487Met) | |
| 22 | g.50722315C>T | CA515265147 | SHANK3 | c.4083C>T (p.Ile1361=) n.4667C>T c.3135C>T (p.Ile1045=) c.2625C>T (p.Ile875=) c.*3081C>T (n.*3081C>T) c.4479C>T (p.Ile1493=) c.4461C>T (p.Ile1487=) | |
| 22 | g.50722316A>C | CA515265148 | SHANK3 | c.4084A>C (p.Ser1362Arg) n.4668A>C c.3136A>C (p.Ser1046Arg) c.2626A>C (p.Ser876Arg) c.*3082A>C (n.*3082A>C) c.4480A>C (p.Ser1494Arg) c.4462A>C (p.Ser1488Arg) | |
| 22 | g.50722316A>G | CA515265149 | SHANK3 | c.4084A>G (p.Ser1362Gly) n.4668A>G c.3136A>G (p.Ser1046Gly) c.2626A>G (p.Ser876Gly) c.*3082A>G (n.*3082A>G) c.4480A>G (p.Ser1494Gly) c.4462A>G (p.Ser1488Gly) | |
| 22 | g.50722316A>T | CA515265150 | SHANK3 | c.4084A>T (p.Ser1362Cys) n.4668A>T c.3136A>T (p.Ser1046Cys) c.2626A>T (p.Ser876Cys) c.*3082A>T (n.*3082A>T) c.4480A>T (p.Ser1494Cys) c.4462A>T (p.Ser1488Cys) | |
| 22 | g.50722317G>A | CA515265152 | SHANK3 | c.4085G>A (p.Ser1362Asn) n.4669G>A c.3137G>A (p.Ser1046Asn) c.2627G>A (p.Ser876Asn) c.*3083G>A (n.*3083G>A) c.4481G>A (p.Ser1494Asn) c.4463G>A (p.Ser1488Asn) | |
| 22 | g.50722317G>C | CA515265154 | SHANK3 | c.4085G>C (p.Ser1362Thr) n.4669G>C c.3137G>C (p.Ser1046Thr) c.2627G>C (p.Ser876Thr) c.*3083G>C (n.*3083G>C) c.4481G>C (p.Ser1494Thr) c.4463G>C (p.Ser1488Thr) | ClinVar |
| 22 | g.50722317G>T | CA515265155 | SHANK3 | c.4085G>T (p.Ser1362Ile) n.4669G>T c.3137G>T (p.Ser1046Ile) c.2627G>T (p.Ser876Ile) c.*3083G>T (n.*3083G>T) c.4481G>T (p.Ser1494Ile) c.4463G>T (p.Ser1488Ile) | |
| 22 | g.50722318T>A | CA515265158 | SHANK3 | c.4086T>A (p.Ser1362Arg) n.4670T>A c.3138T>A (p.Ser1046Arg) c.2628T>A (p.Ser876Arg) c.*3084T>A (n.*3084T>A) c.4482T>A (p.Ser1494Arg) c.4464T>A (p.Ser1488Arg) | |
| 22 | g.50722318T>C | CA515265157 | SHANK3 | c.4086T>C (p.Ser1362=) n.4670T>C c.3138T>C (p.Ser1046=) c.2628T>C (p.Ser876=) c.*3084T>C (n.*3084T>C) c.4482T>C (p.Ser1494=) c.4464T>C (p.Ser1488=) | |
| 22 | g.50722318T>G | CA515265156 | SHANK3 | c.4086T>G (p.Ser1362Arg) n.4670T>G c.3138T>G (p.Ser1046Arg) c.2628T>G (p.Ser876Arg) c.*3084T>G (n.*3084T>G) c.4482T>G (p.Ser1494Arg) c.4464T>G (p.Ser1488Arg) | |
| 22 | g.50722319G>A | CA515265159 | SHANK3 | c.4087G>A (p.Glu1363Lys) n.4671G>A c.3139G>A (p.Glu1047Lys) c.2629G>A (p.Glu877Lys) c.*3085G>A (n.*3085G>A) c.4483G>A (p.Glu1495Lys) c.4465G>A (p.Glu1489Lys) | |
| 22 | g.50722319G>C | CA515265160 | SHANK3 | c.4087G>C (p.Glu1363Gln) n.4671G>C c.3139G>C (p.Glu1047Gln) c.2629G>C (p.Glu877Gln) c.*3085G>C (n.*3085G>C) c.4483G>C (p.Glu1495Gln) c.4465G>C (p.Glu1489Gln) | |
| 22 | g.50722319G>T | CA515265161 | SHANK3 | c.4087G>T (p.Glu1363Ter) n.4671G>T c.3139G>T (p.Glu1047Ter) c.2629G>T (p.Glu877Ter) c.*3085G>T (n.*3085G>T) c.4483G>T (p.Glu1495Ter) c.4465G>T (p.Glu1489Ter) | |
| 22 | g.50722320A>C | CA515265162 | SHANK3 | c.4088A>C (p.Glu1363Ala) n.4672A>C c.3140A>C (p.Glu1047Ala) c.2630A>C (p.Glu877Ala) c.*3086A>C (n.*3086A>C) c.4484A>C (p.Glu1495Ala) c.4466A>C (p.Glu1489Ala) | |
| 22 | g.50722320A>G | CA515265164 | SHANK3 | c.4088A>G (p.Glu1363Gly) n.4672A>G c.3140A>G (p.Glu1047Gly) c.2630A>G (p.Glu877Gly) c.*3086A>G (n.*3086A>G) c.4484A>G (p.Glu1495Gly) c.4466A>G (p.Glu1489Gly) | |
| 22 | g.50722320A>T | CA515265165 | SHANK3 | c.4088A>T (p.Glu1363Val) n.4672A>T c.3140A>T (p.Glu1047Val) c.2630A>T (p.Glu877Val) c.*3086A>T (n.*3086A>T) c.4484A>T (p.Glu1495Val) c.4466A>T (p.Glu1489Val) | |
| 22 | g.50722321G>A | CA515265166 | SHANK3 | c.4089G>A (p.Glu1363=) n.4673G>A c.3141G>A (p.Glu1047=) c.2631G>A (p.Glu877=) c.*3087G>A (n.*3087G>A) c.4485G>A (p.Glu1495=) c.4467G>A (p.Glu1489=) | |
| 22 | g.50722321G>C | CA515265167 | SHANK3 | c.4089G>C (p.Glu1363Asp) n.4673G>C c.3141G>C (p.Glu1047Asp) c.2631G>C (p.Glu877Asp) c.*3087G>C (n.*3087G>C) c.4485G>C (p.Glu1495Asp) c.4467G>C (p.Glu1489Asp) | |
| 22 | g.50722321G>T | CA515265168 | SHANK3 | c.4089G>T (p.Glu1363Asp) n.4673G>T c.3141G>T (p.Glu1047Asp) c.2631G>T (p.Glu877Asp) c.*3087G>T (n.*3087G>T) c.4485G>T (p.Glu1495Asp) c.4467G>T (p.Glu1489Asp) | |
| 22 | g.50722322C>A | CA515265169 | SHANK3 | c.4090C>A (p.Leu1364Ile) n.4674C>A c.3142C>A (p.Leu1048Ile) c.2632C>A (p.Leu878Ile) c.*3088C>A (n.*3088C>A) c.4486C>A (p.Leu1496Ile) c.4468C>A (p.Leu1490Ile) | |
| 22 | g.50722322C>G | CA515265170 | SHANK3 | c.4090C>G (p.Leu1364Val) n.4674C>G c.3142C>G (p.Leu1048Val) c.2632C>G (p.Leu878Val) c.*3088C>G (n.*3088C>G) c.4486C>G (p.Leu1496Val) c.4468C>G (p.Leu1490Val) | |
| 22 | g.50722322C>T | CA515265171 | SHANK3 | c.4090C>T (p.Leu1364Phe) n.4674C>T c.3142C>T (p.Leu1048Phe) c.2632C>T (p.Leu878Phe) c.*3088C>T (n.*3088C>T) c.4486C>T (p.Leu1496Phe) c.4468C>T (p.Leu1490Phe) | |
| 22 | g.50722323T>A | CA515265173 | SHANK3 | c.4091T>A (p.Leu1364His) n.4675T>A c.3143T>A (p.Leu1048His) c.2633T>A (p.Leu878His) c.*3089T>A (n.*3089T>A) c.4487T>A (p.Leu1496His) c.4469T>A (p.Leu1490His) | |
| 22 | g.50722323T>C | CA10326296 | SHANK3 | c.4091T>C (p.Leu1364Pro) n.4675T>C c.3143T>C (p.Leu1048Pro) c.2633T>C (p.Leu878Pro) c.*3089T>C (n.*3089T>C) c.4487T>C (p.Leu1496Pro) c.4469T>C (p.Leu1490Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50722323T>G | CA515265172 | SHANK3 | c.4091T>G (p.Leu1364Arg) n.4675T>G c.3143T>G (p.Leu1048Arg) c.2633T>G (p.Leu878Arg) c.*3089T>G (n.*3089T>G) c.4487T>G (p.Leu1496Arg) c.4469T>G (p.Leu1490Arg) | |
| 22 | g.50722323T= | CA2411008737 | SHANK3 | c.4091T= (p.Leu1364=) n.4675T= c.3143T= (p.Leu1048=) c.2633T= (p.Leu878=) c.*3089T= (n.*3089T=) c.4487T= (p.Leu1496=) c.4469T= (p.Leu1490=) | |
| 22 | g.50722324C>A | CA515265174 | SHANK3 | c.4092C>A (p.Leu1364=) n.4676C>A c.3144C>A (p.Leu1048=) c.2634C>A (p.Leu878=) c.*3090C>A (n.*3090C>A) c.4488C>A (p.Leu1496=) c.4470C>A (p.Leu1490=) | |
| 22 | g.50722324C>G | CA515265177 | SHANK3 | c.4092C>G (p.Leu1364=) n.4676C>G c.3144C>G (p.Leu1048=) c.2634C>G (p.Leu878=) c.*3090C>G (n.*3090C>G) c.4488C>G (p.Leu1496=) c.4470C>G (p.Leu1490=) | |
| 22 | g.50722324C>T | CA515265176 | SHANK3 | c.4092C>T (p.Leu1364=) n.4676C>T c.3144C>T (p.Leu1048=) c.2634C>T (p.Leu878=) c.*3090C>T (n.*3090C>T) c.4488C>T (p.Leu1496=) c.4470C>T (p.Leu1490=) | gnomAD v4 |
| 22 | g.50722325A>C | CA515265178 | SHANK3 | c.4093A>C (p.Ser1365Arg) n.4677A>C c.3145A>C (p.Ser1049Arg) c.2635A>C (p.Ser879Arg) c.*3091A>C (n.*3091A>C) c.4489A>C (p.Ser1497Arg) c.4471A>C (p.Ser1491Arg) | gnomAD v4 |
| 22 | g.50722325A>G | CA515265180 | SHANK3 | c.4093A>G (p.Ser1365Gly) n.4677A>G c.3145A>G (p.Ser1049Gly) c.2635A>G (p.Ser879Gly) c.*3091A>G (n.*3091A>G) c.4489A>G (p.Ser1497Gly) c.4471A>G (p.Ser1491Gly) | ClinVar |
| 22 | g.50722325A>T | CA515265179 | SHANK3 | c.4093A>T (p.Ser1365Cys) n.4677A>T c.3145A>T (p.Ser1049Cys) c.2635A>T (p.Ser879Cys) c.*3091A>T (n.*3091A>T) c.4489A>T (p.Ser1497Cys) c.4471A>T (p.Ser1491Cys) | |
| 22 | g.50722326G>A | CA515265184 | SHANK3 | c.4094G>A (p.Ser1365Asn) n.4678G>A c.3146G>A (p.Ser1049Asn) c.2636G>A (p.Ser879Asn) c.*3092G>A (n.*3092G>A) c.4490G>A (p.Ser1497Asn) c.4472G>A (p.Ser1491Asn) | |
| 22 | g.50722326G>C | CA515265186 | SHANK3 | c.4094G>C (p.Ser1365Thr) n.4678G>C c.3146G>C (p.Ser1049Thr) c.2636G>C (p.Ser879Thr) c.*3092G>C (n.*3092G>C) c.4490G>C (p.Ser1497Thr) c.4472G>C (p.Ser1491Thr) | |
| 22 | g.50722326G>T | CA515265188 | SHANK3 | c.4094G>T (p.Ser1365Ile) n.4678G>T c.3146G>T (p.Ser1049Ile) c.2636G>T (p.Ser879Ile) c.*3092G>T (n.*3092G>T) c.4490G>T (p.Ser1497Ile) c.4472G>T (p.Ser1491Ile) | |
| 22 | g.50722327C>A | CA515265189 | SHANK3 | c.4095C>A (p.Ser1365Arg) n.4679C>A c.3147C>A (p.Ser1049Arg) c.2637C>A (p.Ser879Arg) c.*3093C>A (n.*3093C>A) c.4491C>A (p.Ser1497Arg) c.4473C>A (p.Ser1491Arg) | |
| 22 | g.50722327C= | CA2411008738 | SHANK3 | c.4095C= (p.Ser1365=) n.4679C= c.3147C= (p.Ser1049=) c.2637C= (p.Ser879=) c.*3093C= (n.*3093C=) c.4491C= (p.Ser1497=) c.4473C= (p.Ser1491=) | |
| 22 | g.50722327C>G | CA515265190 | SHANK3 | c.4095C>G (p.Ser1365Arg) n.4679C>G c.3147C>G (p.Ser1049Arg) c.2637C>G (p.Ser879Arg) c.*3093C>G (n.*3093C>G) c.4491C>G (p.Ser1497Arg) c.4473C>G (p.Ser1491Arg) | |
| 22 | g.50722327C>T | CA325580424 | SHANK3 | c.4095C>T (p.Ser1365=) n.4679C>T c.3147C>T (p.Ser1049=) c.2637C>T (p.Ser879=) c.*3093C>T (n.*3093C>T) c.4491C>T (p.Ser1497=) c.4473C>T (p.Ser1491=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50722328T>A | CA515265193 | SHANK3 | c.4096T>A (p.Ser1366Thr) n.4680T>A c.3148T>A (p.Ser1050Thr) c.2638T>A (p.Ser880Thr) c.*3094T>A (n.*3094T>A) c.4492T>A (p.Ser1498Thr) c.4474T>A (p.Ser1492Thr) | |
| 22 | g.50722328T>C | CA515265192 | SHANK3 | c.4096T>C (p.Ser1366Pro) n.4680T>C c.3148T>C (p.Ser1050Pro) c.2638T>C (p.Ser880Pro) c.*3094T>C (n.*3094T>C) c.4492T>C (p.Ser1498Pro) c.4474T>C (p.Ser1492Pro) | |
| 22 | g.50722328T>G | CA515265191 | SHANK3 | c.4096T>G (p.Ser1366Ala) n.4680T>G c.3148T>G (p.Ser1050Ala) c.2638T>G (p.Ser880Ala) c.*3094T>G (n.*3094T>G) c.4492T>G (p.Ser1498Ala) c.4474T>G (p.Ser1492Ala) | |
| 22 | g.50722329C>A | CA515265194 | SHANK3 | c.4097C>A (p.Ser1366Tyr) n.4681C>A c.3149C>A (p.Ser1050Tyr) c.2639C>A (p.Ser880Tyr) c.*3095C>A (n.*3095C>A) c.4493C>A (p.Ser1498Tyr) c.4475C>A (p.Ser1492Tyr) | |
| 22 | g.50722329C= | CA2411008739 | SHANK3 | c.4097C= (p.Ser1366=) n.4681C= c.3149C= (p.Ser1050=) c.2639C= (p.Ser880=) c.*3095C= (n.*3095C=) c.4493C= (p.Ser1498=) c.4475C= (p.Ser1492=) | |
| 22 | g.50722329C>G | CA515265195 | SHANK3 | c.4097C>G (p.Ser1366Cys) n.4681C>G c.3149C>G (p.Ser1050Cys) c.2639C>G (p.Ser880Cys) c.*3095C>G (n.*3095C>G) c.4493C>G (p.Ser1498Cys) c.4475C>G (p.Ser1492Cys) | dbSNP gnomAD v4 |
| 22 | g.50722329C>T | CA515265196 | SHANK3 | c.4097C>T (p.Ser1366Phe) n.4681C>T c.3149C>T (p.Ser1050Phe) c.2639C>T (p.Ser880Phe) c.*3095C>T (n.*3095C>T) c.4493C>T (p.Ser1498Phe) c.4475C>T (p.Ser1492Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50722330C>A | CA515265199 | SHANK3 | c.4098C>A (p.Ser1366=) n.4682C>A c.3150C>A (p.Ser1050=) c.2640C>A (p.Ser880=) c.*3096C>A (n.*3096C>A) c.4494C>A (p.Ser1498=) c.4476C>A (p.Ser1492=) | |
| 22 | g.50722330C= | CA2411008740 | SHANK3 | c.4098C= (p.Ser1366=) n.4682C= c.3150C= (p.Ser1050=) c.2640C= (p.Ser880=) c.*3096C= (n.*3096C=) c.4494C= (p.Ser1498=) c.4476C= (p.Ser1492=) | |
| 22 | g.50722330C>G | CA515265200 | SHANK3 | c.4098C>G (p.Ser1366=) n.4682C>G c.3150C>G (p.Ser1050=) c.2640C>G (p.Ser880=) c.*3096C>G (n.*3096C>G) c.4494C>G (p.Ser1498=) c.4476C>G (p.Ser1492=) | |
| 22 | g.50722330C>T | CA515265201 | SHANK3 | c.4098C>T (p.Ser1366=) n.4682C>T c.3150C>T (p.Ser1050=) c.2640C>T (p.Ser880=) c.*3096C>T (n.*3096C>T) c.4494C>T (p.Ser1498=) c.4476C>T (p.Ser1492=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50722331C>A | CA515265203 | SHANK3 | c.4099C>A (p.Arg1367Ser) n.4683C>A c.3151C>A (p.Arg1051Ser) c.2641C>A (p.Arg881Ser) c.*3097C>A (n.*3097C>A) c.4495C>A (p.Arg1499Ser) c.4477C>A (p.Arg1493Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50722331C= | CA2411008741 | SHANK3 | c.4099C= (p.Arg1367=) n.4683C= c.3151C= (p.Arg1051=) c.2641C= (p.Arg881=) c.*3097C= (n.*3097C=) c.4495C= (p.Arg1499=) c.4477C= (p.Arg1493=) | |
| 22 | g.50722331C>G | CA515265205 | SHANK3 | c.4099C>G (p.Arg1367Gly) n.4683C>G c.3151C>G (p.Arg1051Gly) c.2641C>G (p.Arg881Gly) c.*3097C>G (n.*3097C>G) c.4495C>G (p.Arg1499Gly) c.4477C>G (p.Arg1493Gly) | |
| 22 | g.50722331C>T | CA515265204 | SHANK3 | c.4099C>T (p.Arg1367Cys) n.4683C>T c.3151C>T (p.Arg1051Cys) c.2641C>T (p.Arg881Cys) c.*3097C>T (n.*3097C>T) c.4495C>T (p.Arg1499Cys) c.4477C>T (p.Arg1493Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50722332G>A | CA10326297 | SHANK3 | c.4100G>A (p.Arg1367His) n.4684G>A c.3152G>A (p.Arg1051His) c.2642G>A (p.Arg881His) c.*3098G>A (n.*3098G>A) c.4496G>A (p.Arg1499His) c.4478G>A (p.Arg1493His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50722332G>C | CA515265206 | SHANK3 | c.4100G>C (p.Arg1367Pro) n.4684G>C c.3152G>C (p.Arg1051Pro) c.2642G>C (p.Arg881Pro) c.*3098G>C (n.*3098G>C) c.4496G>C (p.Arg1499Pro) c.4478G>C (p.Arg1493Pro) | gnomAD v4 |
| 22 | g.50722332G= | CA2411008742 | SHANK3 | c.4100G= (p.Arg1367=) n.4684G= c.3152G= (p.Arg1051=) c.2642G= (p.Arg881=) c.*3098G= (n.*3098G=) c.4496G= (p.Arg1499=) c.4478G= (p.Arg1493=) | |
| 22 | g.50722332G>T | CA515265207 | SHANK3 | c.4100G>T (p.Arg1367Leu) n.4684G>T c.3152G>T (p.Arg1051Leu) c.2642G>T (p.Arg881Leu) c.*3098G>T (n.*3098G>T) c.4496G>T (p.Arg1499Leu) c.4478G>T (p.Arg1493Leu) | |
| 22 | g.50722333C>A | CA515265208 | SHANK3 | c.4101C>A (p.Arg1367=) n.4685C>A c.3153C>A (p.Arg1051=) c.2643C>A (p.Arg881=) c.*3099C>A (n.*3099C>A) c.4497C>A (p.Arg1499=) c.4479C>A (p.Arg1493=) | |
| 22 | g.50722333C= | CA2411008743 | SHANK3 | c.4101C= (p.Arg1367=) n.4685C= c.3153C= (p.Arg1051=) c.2643C= (p.Arg881=) c.*3099C= (n.*3099C=) c.4497C= (p.Arg1499=) c.4479C= (p.Arg1493=) | |
| 22 | g.50722333C>G | CA515265209 | SHANK3 | c.4101C>G (p.Arg1367=) n.4685C>G c.3153C>G (p.Arg1051=) c.2643C>G (p.Arg881=) c.*3099C>G (n.*3099C>G) c.4497C>G (p.Arg1499=) c.4479C>G (p.Arg1493=) | |
| 22 | g.50722333C>T | CA515265210 | SHANK3 | c.4101C>T (p.Arg1367=) n.4685C>T c.3153C>T (p.Arg1051=) c.2643C>T (p.Arg881=) c.*3099C>T (n.*3099C>T) c.4497C>T (p.Arg1499=) c.4479C>T (p.Arg1493=) | dbSNP |
| 22 | g.50722334C>A | CA515265211 | SHANK3 | c.4102C>A (p.Leu1368Met) n.4686C>A c.3154C>A (p.Leu1052Met) c.2644C>A (p.Leu882Met) c.*3100C>A (n.*3100C>A) c.4498C>A (p.Leu1500Met) c.4480C>A (p.Leu1494Met) | |
| 22 | g.50722334C= | CA2411008744 | SHANK3 | c.4102C= (p.Leu1368=) n.4686C= c.3154C= (p.Leu1052=) c.2644C= (p.Leu882=) c.*3100C= (n.*3100C=) c.4498C= (p.Leu1500=) c.4480C= (p.Leu1494=) | |
| 22 | g.50722334C>G | CA515265212 | SHANK3 | c.4102C>G (p.Leu1368Val) n.4686C>G c.3154C>G (p.Leu1052Val) c.2644C>G (p.Leu882Val) c.*3100C>G (n.*3100C>G) c.4498C>G (p.Leu1500Val) c.4480C>G (p.Leu1494Val) | |
| 22 | g.50722334C>T | CA515265214 | SHANK3 | c.4102C>T (p.Leu1368=) n.4686C>T c.3154C>T (p.Leu1052=) c.2644C>T (p.Leu882=) c.*3100C>T (n.*3100C>T) c.4498C>T (p.Leu1500=) c.4480C>T (p.Leu1494=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50722335T>A | CA515265217 | SHANK3 | c.4103T>A (p.Leu1368Gln) n.4687T>A c.3155T>A (p.Leu1052Gln) c.2645T>A (p.Leu882Gln) c.*3101T>A (n.*3101T>A) c.4499T>A (p.Leu1500Gln) c.4481T>A (p.Leu1494Gln) | |
| 22 | g.50722335T>C | CA515265219 | SHANK3 | c.4103T>C (p.Leu1368Pro) n.4687T>C c.3155T>C (p.Leu1052Pro) c.2645T>C (p.Leu882Pro) c.*3101T>C (n.*3101T>C) c.4499T>C (p.Leu1500Pro) c.4481T>C (p.Leu1494Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50722335T>G | CA515265220 | SHANK3 | c.4103T>G (p.Leu1368Arg) n.4687T>G c.3155T>G (p.Leu1052Arg) c.2645T>G (p.Leu882Arg) c.*3101T>G (n.*3101T>G) c.4499T>G (p.Leu1500Arg) c.4481T>G (p.Leu1494Arg) | |
| 22 | g.50722335T= | CA2411008745 | SHANK3 | c.4103T= (p.Leu1368=) n.4687T= c.3155T= (p.Leu1052=) c.2645T= (p.Leu882=) c.*3101T= (n.*3101T=) c.4499T= (p.Leu1500=) c.4481T= (p.Leu1494=) | |
| 22 | g.50722336G>A | CA515265221 | SHANK3 | c.4104G>A (p.Leu1368=) n.4688G>A c.3156G>A (p.Leu1052=) c.2646G>A (p.Leu882=) c.*3102G>A (n.*3102G>A) c.4500G>A (p.Leu1500=) c.4482G>A (p.Leu1494=) | gnomAD v4 |
| 22 | g.50722336G>C | CA515265224 | SHANK3 | c.4104G>C (p.Leu1368=) n.4688G>C c.3156G>C (p.Leu1052=) c.2646G>C (p.Leu882=) c.*3102G>C (n.*3102G>C) c.4500G>C (p.Leu1500=) c.4482G>C (p.Leu1494=) | |
| 22 | g.50722336G>T | CA515265222 | SHANK3 | c.4104G>T (p.Leu1368=) n.4688G>T c.3156G>T (p.Leu1052=) c.2646G>T (p.Leu882=) c.*3102G>T (n.*3102G>T) c.4500G>T (p.Leu1500=) c.4482G>T (p.Leu1494=) | |
| 22 | g.50722337C>A | CA515265225 | SHANK3 | c.4105C>A (p.Gln1369Lys) n.4689C>A c.3157C>A (p.Gln1053Lys) c.2647C>A (p.Gln883Lys) c.*3103C>A (n.*3103C>A) c.4501C>A (p.Gln1501Lys) c.4483C>A (p.Gln1495Lys) | |
| 22 | g.50722337C>G | CA515265226 | SHANK3 | c.4105C>G (p.Gln1369Glu) n.4689C>G c.3157C>G (p.Gln1053Glu) c.2647C>G (p.Gln883Glu) c.*3103C>G (n.*3103C>G) c.4501C>G (p.Gln1501Glu) c.4483C>G (p.Gln1495Glu) | |
| 22 | g.50722337C>T | CA515265227 | SHANK3 | c.4105C>T (p.Gln1369Ter) n.4689C>T c.3157C>T (p.Gln1053Ter) c.2647C>T (p.Gln883Ter) c.*3103C>T (n.*3103C>T) c.4501C>T (p.Gln1501Ter) c.4483C>T (p.Gln1495Ter) | |
| 22 | g.50722338A>C | CA515265228 | SHANK3 | c.4106A>C (p.Gln1369Pro) n.4690A>C c.3158A>C (p.Gln1053Pro) c.2648A>C (p.Gln883Pro) c.*3104A>C (n.*3104A>C) c.4502A>C (p.Gln1501Pro) c.4484A>C (p.Gln1495Pro) | |
| 22 | g.50722338A>G | CA515265229 | SHANK3 | c.4106A>G (p.Gln1369Arg) n.4690A>G c.3158A>G (p.Gln1053Arg) c.2648A>G (p.Gln883Arg) c.*3104A>G (n.*3104A>G) c.4502A>G (p.Gln1501Arg) c.4484A>G (p.Gln1495Arg) | ClinVar |
| 22 | g.50722338A>T | CA515265230 | SHANK3 | c.4106A>T (p.Gln1369Leu) n.4690A>T c.3158A>T (p.Gln1053Leu) c.2648A>T (p.Gln883Leu) c.*3104A>T (n.*3104A>T) c.4502A>T (p.Gln1501Leu) c.4484A>T (p.Gln1495Leu) | |
| 22 | g.50722339G>A | CA10326298 | SHANK3 | c.4107G>A (p.Gln1369=) n.4691G>A c.3159G>A (p.Gln1053=) c.2649G>A (p.Gln883=) c.*3105G>A (n.*3105G>A) c.4503G>A (p.Gln1501=) c.4485G>A (p.Gln1495=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50722339G>C | CA515265233 | SHANK3 | c.4107G>C (p.Gln1369His) n.4691G>C c.3159G>C (p.Gln1053His) c.2649G>C (p.Gln883His) c.*3105G>C (n.*3105G>C) c.4503G>C (p.Gln1501His) c.4485G>C (p.Gln1495His) | |
| 22 | g.50722339G= | CA2411008746 | SHANK3 | c.4107G= (p.Gln1369=) n.4691G= c.3159G= (p.Gln1053=) c.2649G= (p.Gln883=) c.*3105G= (n.*3105G=) c.4503G= (p.Gln1501=) c.4485G= (p.Gln1495=) | |
| 22 | g.50722339G>T | CA515265235 | SHANK3 | c.4107G>T (p.Gln1369His) n.4691G>T c.3159G>T (p.Gln1053His) c.2649G>T (p.Gln883His) c.*3105G>T (n.*3105G>T) c.4503G>T (p.Gln1501His) c.4485G>T (p.Gln1495His) | |
| 22 | g.50722340C>A | CA515265238 | SHANK3 | c.4108C>A (p.Gln1370Lys) n.4692C>A c.3160C>A (p.Gln1054Lys) c.2650C>A (p.Gln884Lys) c.*3106C>A (n.*3106C>A) c.4504C>A (p.Gln1502Lys) c.4486C>A (p.Gln1496Lys) | |
| 22 | g.50722340C>G | CA515265239 | SHANK3 | c.4108C>G (p.Gln1370Glu) n.4692C>G c.3160C>G (p.Gln1054Glu) c.2650C>G (p.Gln884Glu) c.*3106C>G (n.*3106C>G) c.4504C>G (p.Gln1502Glu) c.4486C>G (p.Gln1496Glu) | |
| 22 | g.50722340C>T | CA515265240 | SHANK3 | c.4108C>T (p.Gln1370Ter) n.4692C>T c.3160C>T (p.Gln1054Ter) c.2650C>T (p.Gln884Ter) c.*3106C>T (n.*3106C>T) c.4504C>T (p.Gln1502Ter) c.4486C>T (p.Gln1496Ter) | ClinVar dbSNP |
| 22 | g.50722341A= | CA2411008747 | SHANK3 | c.4109A= (p.Gln1370=) n.4693A= c.3161A= (p.Gln1054=) c.2651A= (p.Gln884=) c.*3107A= (n.*3107A=) c.4505A= (p.Gln1502=) c.4487A= (p.Gln1496=) | |
| 22 | g.50722341A>C | CA515265242 | SHANK3 | c.4109A>C (p.Gln1370Pro) n.4693A>C c.3161A>C (p.Gln1054Pro) c.2651A>C (p.Gln884Pro) c.*3107A>C (n.*3107A>C) c.4505A>C (p.Gln1502Pro) c.4487A>C (p.Gln1496Pro) | |
| 22 | g.50722341A>G | CA515265241 | SHANK3 | c.4109A>G (p.Gln1370Arg) n.4693A>G c.3161A>G (p.Gln1054Arg) c.2651A>G (p.Gln884Arg) c.*3107A>G (n.*3107A>G) c.4505A>G (p.Gln1502Arg) c.4487A>G (p.Gln1496Arg) | |
| 22 | g.50722341A>T | CA10326299 | SHANK3 | c.4109A>T (p.Gln1370Leu) n.4693A>T c.3161A>T (p.Gln1054Leu) c.2651A>T (p.Gln884Leu) c.*3107A>T (n.*3107A>T) c.4505A>T (p.Gln1502Leu) c.4487A>T (p.Gln1496Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50722342G>A | CA515265243 | SHANK3 | c.4110G>A (p.Gln1370=) n.4694G>A c.3162G>A (p.Gln1054=) c.2652G>A (p.Gln884=) c.*3108G>A (n.*3108G>A) c.4506G>A (p.Gln1502=) c.4488G>A (p.Gln1496=) | |
| 22 | g.50722342G>C | CA515265244 | SHANK3 | c.4110G>C (p.Gln1370His) n.4694G>C c.3162G>C (p.Gln1054His) c.2652G>C (p.Gln884His) c.*3108G>C (n.*3108G>C) c.4506G>C (p.Gln1502His) c.4488G>C (p.Gln1496His) | |
| 22 | g.50722342G>T | CA515265246 | SHANK3 | c.4110G>T (p.Gln1370His) n.4694G>T c.3162G>T (p.Gln1054His) c.2652G>T (p.Gln884His) c.*3108G>T (n.*3108G>T) c.4506G>T (p.Gln1502His) c.4488G>T (p.Gln1496His) |