WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50722235C>A | CA515264852 | SHANK3 | c.4003C>A (p.Gln1335Lys) n.4587C>A c.3055C>A (p.Gln1019Lys) c.2545C>A (p.Gln849Lys) c.*3001C>A (n.*3001C>A) c.4399C>A (p.Gln1467Lys) c.4381C>A (p.Gln1461Lys) | |
| 22 | g.50722235C= | CA2411008696 | SHANK3 | c.4003C= (p.Gln1335=) n.4587C= c.3055C= (p.Gln1019=) c.2545C= (p.Gln849=) c.*3001C= (n.*3001C=) c.4399C= (p.Gln1467=) c.4381C= (p.Gln1461=) | |
| 22 | g.50722235C>G | CA515264853 | SHANK3 | c.4003C>G (p.Gln1335Glu) n.4587C>G c.3055C>G (p.Gln1019Glu) c.2545C>G (p.Gln849Glu) c.*3001C>G (n.*3001C>G) c.4399C>G (p.Gln1467Glu) c.4381C>G (p.Gln1461Glu) | |
| 22 | g.50722235C>T | CA16621142 | SHANK3 | c.4003C>T (p.Gln1335Ter) n.4587C>T c.3055C>T (p.Gln1019Ter) c.2545C>T (p.Gln849Ter) c.*3001C>T (n.*3001C>T) c.4399C>T (p.Gln1467Ter) c.4381C>T (p.Gln1461Ter) | ClinVar dbSNP |
| 22 | g.50722236A>C | CA515264855 | SHANK3 | c.4004A>C (p.Gln1335Pro) n.4588A>C c.3056A>C (p.Gln1019Pro) c.2546A>C (p.Gln849Pro) c.*3002A>C (n.*3002A>C) c.4400A>C (p.Gln1467Pro) c.4382A>C (p.Gln1461Pro) | |
| 22 | g.50722236A>G | CA515264856 | SHANK3 | c.4004A>G (p.Gln1335Arg) n.4588A>G c.3056A>G (p.Gln1019Arg) c.2546A>G (p.Gln849Arg) c.*3002A>G (n.*3002A>G) c.4400A>G (p.Gln1467Arg) c.4382A>G (p.Gln1461Arg) | gnomAD v4 |
| 22 | g.50722236A>T | CA515264857 | SHANK3 | c.4004A>T (p.Gln1335Leu) n.4588A>T c.3056A>T (p.Gln1019Leu) c.2546A>T (p.Gln849Leu) c.*3002A>T (n.*3002A>T) c.4400A>T (p.Gln1467Leu) c.4382A>T (p.Gln1461Leu) | |
| 22 | g.50722237G>A | CA515264858 | SHANK3 | c.4005G>A (p.Gln1335=) n.4589G>A c.3057G>A (p.Gln1019=) c.2547G>A (p.Gln849=) c.*3003G>A (n.*3003G>A) c.4401G>A (p.Gln1467=) c.4383G>A (p.Gln1461=) | |
| 22 | g.50722237G>C | CA515264859 | SHANK3 | c.4005G>C (p.Gln1335His) n.4589G>C c.3057G>C (p.Gln1019His) c.2547G>C (p.Gln849His) c.*3003G>C (n.*3003G>C) c.4401G>C (p.Gln1467His) c.4383G>C (p.Gln1461His) | |
| 22 | g.50722237G>T | CA515264860 | SHANK3 | c.4005G>T (p.Gln1335His) n.4589G>T c.3057G>T (p.Gln1019His) c.2547G>T (p.Gln849His) c.*3003G>T (n.*3003G>T) c.4401G>T (p.Gln1467His) c.4383G>T (p.Gln1461His) | |
| 22 | g.50722238A>C | CA515264861 | SHANK3 | c.4006A>C (p.Arg1336=) n.4590A>C c.3058A>C (p.Arg1020=) c.2548A>C (p.Arg850=) c.*3004A>C (n.*3004A>C) c.4402A>C (p.Arg1468=) c.4384A>C (p.Arg1462=) | |
| 22 | g.50722238A>G | CA515264862 | SHANK3 | c.4006A>G (p.Arg1336Gly) n.4590A>G c.3058A>G (p.Arg1020Gly) c.2548A>G (p.Arg850Gly) c.*3004A>G (n.*3004A>G) c.4402A>G (p.Arg1468Gly) c.4384A>G (p.Arg1462Gly) | |
| 22 | g.50722238A>T | CA515264863 | SHANK3 | c.4006A>T (p.Arg1336Ter) n.4590A>T c.3058A>T (p.Arg1020Ter) c.2548A>T (p.Arg850Ter) c.*3004A>T (n.*3004A>T) c.4402A>T (p.Arg1468Ter) c.4384A>T (p.Arg1462Ter) | |
| 22 | g.50722239G>A | CA325580291 | SHANK3 | c.4007G>A (p.Arg1336Lys) n.4591G>A c.3059G>A (p.Arg1020Lys) c.2549G>A (p.Arg850Lys) c.*3005G>A (n.*3005G>A) c.4403G>A (p.Arg1468Lys) c.4385G>A (p.Arg1462Lys) | dbSNP |
| 22 | g.50722239G>C | CA515264865 | SHANK3 | c.4007G>C (p.Arg1336Thr) n.4591G>C c.3059G>C (p.Arg1020Thr) c.2549G>C (p.Arg850Thr) c.*3005G>C (n.*3005G>C) c.4403G>C (p.Arg1468Thr) c.4385G>C (p.Arg1462Thr) | |
| 22 | g.50722239G= | CA2411008697 | SHANK3 | c.4007G= (p.Arg1336=) n.4591G= c.3059G= (p.Arg1020=) c.2549G= (p.Arg850=) c.*3005G= (n.*3005G=) c.4403G= (p.Arg1468=) c.4385G= (p.Arg1462=) | |
| 22 | g.50722239G>T | CA515264864 | SHANK3 | c.4007G>T (p.Arg1336Ile) n.4591G>T c.3059G>T (p.Arg1020Ile) c.2549G>T (p.Arg850Ile) c.*3005G>T (n.*3005G>T) c.4403G>T (p.Arg1468Ile) c.4385G>T (p.Arg1462Ile) | |
| 22 | g.50722240A>C | CA515264866 | SHANK3 | c.4008A>C (p.Arg1336Ser) n.4592A>C c.3060A>C (p.Arg1020Ser) c.2550A>C (p.Arg850Ser) c.*3006A>C (n.*3006A>C) c.4404A>C (p.Arg1468Ser) c.4386A>C (p.Arg1462Ser) | |
| 22 | g.50722240A>G | CA515264869 | SHANK3 | c.4008A>G (p.Arg1336=) n.4592A>G c.3060A>G (p.Arg1020=) c.2550A>G (p.Arg850=) c.*3006A>G (n.*3006A>G) c.4404A>G (p.Arg1468=) c.4386A>G (p.Arg1462=) | |
| 22 | g.50722240A>T | CA515264868 | SHANK3 | c.4008A>T (p.Arg1336Ser) n.4592A>T c.3060A>T (p.Arg1020Ser) c.2550A>T (p.Arg850Ser) c.*3006A>T (n.*3006A>T) c.4404A>T (p.Arg1468Ser) c.4386A>T (p.Arg1462Ser) | |
| 22 | g.50722241A>C | CA515264870 | SHANK3 | c.4009A>C (p.Arg1337=) n.4593A>C c.3061A>C (p.Arg1021=) c.2551A>C (p.Arg851=) c.*3007A>C (n.*3007A>C) c.4405A>C (p.Arg1469=) c.4387A>C (p.Arg1463=) | |
| 22 | g.50722241A>G | CA515264871 | SHANK3 | c.4009A>G (p.Arg1337Gly) n.4593A>G c.3061A>G (p.Arg1021Gly) c.2551A>G (p.Arg851Gly) c.*3007A>G (n.*3007A>G) c.4405A>G (p.Arg1469Gly) c.4387A>G (p.Arg1463Gly) | |
| 22 | g.50722241A>T | CA515264872 | SHANK3 | c.4009A>T (p.Arg1337Trp) n.4593A>T c.3061A>T (p.Arg1021Trp) c.2551A>T (p.Arg851Trp) c.*3007A>T (n.*3007A>T) c.4405A>T (p.Arg1469Trp) c.4387A>T (p.Arg1463Trp) | |
| 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) |