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 |
|---|---|---|---|---|---|
| 11 | g.70473398G>A | CA214622 | SHANK2 | c.3254C>T (p.Thr1085Met) c.799C>T (n.799C>T) c.5021C>T (p.Thr1674Met) c.2530C>T c.3884C>T (p.Thr1295Met) c.3311C>T (p.Thr1104Met) c.3257C>T (p.Thr1086Met) c.*25C>T (n.*25C>T) c.3233C>T (p.Thr1078Met) c.797C>T c.2858C>T (p.Thr953Met) n.1773C>T n.875C>T c.4991C>T (p.Thr1664Met) c.5033C>T (p.Thr1678Met) c.5012C>T (p.Thr1671Met) c.5006C>T (p.Thr1669Met) c.4985C>T (p.Thr1662Met) c.3896C>T (p.Thr1299Met) c.4994C>T (p.Thr1665Met) n.876C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.70473398G>C | CA381676715 | SHANK2 | c.3254C>G (p.Thr1085Arg) c.799C>G (n.799C>G) c.5021C>G (p.Thr1674Arg) c.2530C>G c.3884C>G (p.Thr1295Arg) c.3311C>G (p.Thr1104Arg) c.3257C>G (p.Thr1086Arg) c.*25C>G (n.*25C>G) c.3233C>G (p.Thr1078Arg) c.797C>G c.2858C>G (p.Thr953Arg) n.1773C>G n.875C>G c.4991C>G (p.Thr1664Arg) c.5033C>G (p.Thr1678Arg) c.5012C>G (p.Thr1671Arg) c.5006C>G (p.Thr1669Arg) c.4985C>G (p.Thr1662Arg) c.3896C>G (p.Thr1299Arg) c.4994C>G (p.Thr1665Arg) n.876C>G | |
| 11 | g.70473398G= | CA1981068042 | SHANK2 | c.3254C= (p.Thr1085=) c.799C= (n.799C=) c.5021C= (p.Thr1674=) c.2530C= c.3884C= (p.Thr1295=) c.3311C= (p.Thr1104=) c.3257C= (p.Thr1086=) c.*25C= (n.*25C=) c.3233C= (p.Thr1078=) c.797C= c.2858C= (p.Thr953=) n.1773C= n.875C= c.4991C= (p.Thr1664=) c.5033C= (p.Thr1678=) c.5012C= (p.Thr1671=) c.5006C= (p.Thr1669=) c.4985C= (p.Thr1662=) c.3896C= (p.Thr1299=) c.4994C= (p.Thr1665=) n.876C= | |
| 11 | g.70473398G>T | CA381676719 | SHANK2 | c.3254C>A (p.Thr1085Lys) c.799C>A (n.799C>A) c.5021C>A (p.Thr1674Lys) c.2530C>A c.3884C>A (p.Thr1295Lys) c.3311C>A (p.Thr1104Lys) c.3257C>A (p.Thr1086Lys) c.*25C>A (n.*25C>A) c.3233C>A (p.Thr1078Lys) c.797C>A c.2858C>A (p.Thr953Lys) n.1773C>A n.875C>A c.4991C>A (p.Thr1664Lys) c.5033C>A (p.Thr1678Lys) c.5012C>A (p.Thr1671Lys) c.5006C>A (p.Thr1669Lys) c.4985C>A (p.Thr1662Lys) c.3896C>A (p.Thr1299Lys) c.4994C>A (p.Thr1665Lys) n.876C>A | gnomAD v4 |
| 11 | g.70473399T>A | CA381676722 | SHANK2 | c.3253A>T (p.Thr1085Ser) c.798A>T (n.798A>T) c.5020A>T (p.Thr1674Ser) c.2529A>T c.3883A>T (p.Thr1295Ser) c.3310A>T (p.Thr1104Ser) c.3256A>T (p.Thr1086Ser) c.*24A>T (n.*24A>T) c.3232A>T (p.Thr1078Ser) c.796A>T c.2857A>T (p.Thr953Ser) n.1772A>T n.874A>T c.4990A>T (p.Thr1664Ser) c.5032A>T (p.Thr1678Ser) c.5011A>T (p.Thr1671Ser) c.5005A>T (p.Thr1669Ser) c.4984A>T (p.Thr1662Ser) c.3895A>T (p.Thr1299Ser) c.4993A>T (p.Thr1665Ser) n.875A>T | |
| 11 | g.70473399T>C | CA381676723 | SHANK2 | c.3253A>G (p.Thr1085Ala) c.798A>G (n.798A>G) c.5020A>G (p.Thr1674Ala) c.2529A>G c.3883A>G (p.Thr1295Ala) c.3310A>G (p.Thr1104Ala) c.3256A>G (p.Thr1086Ala) c.*24A>G (n.*24A>G) c.3232A>G (p.Thr1078Ala) c.796A>G c.2857A>G (p.Thr953Ala) n.1772A>G n.874A>G c.4990A>G (p.Thr1664Ala) c.5032A>G (p.Thr1678Ala) c.5011A>G (p.Thr1671Ala) c.5005A>G (p.Thr1669Ala) c.4984A>G (p.Thr1662Ala) c.3895A>G (p.Thr1299Ala) c.4993A>G (p.Thr1665Ala) n.875A>G | dbSNP gnomAD v4 |
| 11 | g.70473399T>G | CA381676724 | SHANK2 | c.3253A>C (p.Thr1085Pro) c.798A>C (n.798A>C) c.5020A>C (p.Thr1674Pro) c.2529A>C c.3883A>C (p.Thr1295Pro) c.3310A>C (p.Thr1104Pro) c.3256A>C (p.Thr1086Pro) c.*24A>C (n.*24A>C) c.3232A>C (p.Thr1078Pro) c.796A>C c.2857A>C (p.Thr953Pro) n.1772A>C n.874A>C c.4990A>C (p.Thr1664Pro) c.5032A>C (p.Thr1678Pro) c.5011A>C (p.Thr1671Pro) c.5005A>C (p.Thr1669Pro) c.4984A>C (p.Thr1662Pro) c.3895A>C (p.Thr1299Pro) c.4993A>C (p.Thr1665Pro) n.875A>C | |
| 11 | g.70473399T= | CA1981068043 | SHANK2 | c.3253A= (p.Thr1085=) c.798A= (n.798A=) c.5020A= (p.Thr1674=) c.2529A= c.3883A= (p.Thr1295=) c.3310A= (p.Thr1104=) c.3256A= (p.Thr1086=) c.*24A= (n.*24A=) c.3232A= (p.Thr1078=) c.796A= c.2857A= (p.Thr953=) n.1772A= n.874A= c.4990A= (p.Thr1664=) c.5032A= (p.Thr1678=) c.5011A= (p.Thr1671=) c.5005A= (p.Thr1669=) c.4984A= (p.Thr1662=) c.3895A= (p.Thr1299=) c.4993A= (p.Thr1665=) n.875A= | |
| 11 | g.70473400G>A | CA475470830 | SHANK2 | c.3252C>T (p.Ser1084=) c.797C>T (n.797C>T) c.5019C>T (p.Ser1673=) c.2528C>T c.3882C>T (p.Ser1294=) c.3309C>T (p.Ser1103=) c.3255C>T (p.Ser1085=) c.*23C>T (n.*23C>T) c.3231C>T (p.Ser1077=) c.795C>T c.2856C>T (p.Ser952=) n.1771C>T n.873C>T c.4989C>T (p.Ser1663=) c.5031C>T (p.Ser1677=) c.5010C>T (p.Ser1670=) c.5004C>T (p.Ser1668=) c.4983C>T (p.Ser1661=) c.3894C>T (p.Ser1298=) c.4992C>T (p.Ser1664=) n.874C>T | gnomAD v4 |
| 11 | g.70473400G>C | CA381676728 | SHANK2 | c.3252C>G (p.Ser1084Arg) c.797C>G (n.797C>G) c.5019C>G (p.Ser1673Arg) c.2528C>G c.3882C>G (p.Ser1294Arg) c.3309C>G (p.Ser1103Arg) c.3255C>G (p.Ser1085Arg) c.*23C>G (n.*23C>G) c.3231C>G (p.Ser1077Arg) c.795C>G c.2856C>G (p.Ser952Arg) n.1771C>G n.873C>G c.4989C>G (p.Ser1663Arg) c.5031C>G (p.Ser1677Arg) c.5010C>G (p.Ser1670Arg) c.5004C>G (p.Ser1668Arg) c.4983C>G (p.Ser1661Arg) c.3894C>G (p.Ser1298Arg) c.4992C>G (p.Ser1664Arg) n.874C>G | |
| 11 | g.70473400G>T | CA381676727 | SHANK2 | c.3252C>A (p.Ser1084Arg) c.797C>A (n.797C>A) c.5019C>A (p.Ser1673Arg) c.2528C>A c.3882C>A (p.Ser1294Arg) c.3309C>A (p.Ser1103Arg) c.3255C>A (p.Ser1085Arg) c.*23C>A (n.*23C>A) c.3231C>A (p.Ser1077Arg) c.795C>A c.2856C>A (p.Ser952Arg) n.1771C>A n.873C>A c.4989C>A (p.Ser1663Arg) c.5031C>A (p.Ser1677Arg) c.5010C>A (p.Ser1670Arg) c.5004C>A (p.Ser1668Arg) c.4983C>A (p.Ser1661Arg) c.3894C>A (p.Ser1298Arg) c.4992C>A (p.Ser1664Arg) n.874C>A | gnomAD v4 |
| 11 | g.70473401C>A | CA381676729 | SHANK2 | c.3251G>T (p.Ser1084Ile) c.796G>T (n.796G>T) c.5018G>T (p.Ser1673Ile) c.2527G>T c.3881G>T (p.Ser1294Ile) c.3308G>T (p.Ser1103Ile) c.3254G>T (p.Ser1085Ile) c.*22G>T (n.*22G>T) c.3230G>T (p.Ser1077Ile) c.794G>T c.2855G>T (p.Ser952Ile) n.1770G>T n.872G>T c.4988G>T (p.Ser1663Ile) c.5030G>T (p.Ser1677Ile) c.5009G>T (p.Ser1670Ile) c.5003G>T (p.Ser1668Ile) c.4982G>T (p.Ser1661Ile) c.3893G>T (p.Ser1298Ile) c.4991G>T (p.Ser1664Ile) n.873G>T | |
| 11 | g.70473401C= | CA1981068044 | SHANK2 | c.3251G= (p.Ser1084=) c.796G= (n.796G=) c.5018G= (p.Ser1673=) c.2527G= c.3881G= (p.Ser1294=) c.3308G= (p.Ser1103=) c.3254G= (p.Ser1085=) c.*22G= (n.*22G=) c.3230G= (p.Ser1077=) c.794G= c.2855G= (p.Ser952=) n.1770G= n.872G= c.4988G= (p.Ser1663=) c.5030G= (p.Ser1677=) c.5009G= (p.Ser1670=) c.5003G= (p.Ser1668=) c.4982G= (p.Ser1661=) c.3893G= (p.Ser1298=) c.4991G= (p.Ser1664=) n.873G= | |
| 11 | g.70473401C>G | CA381676730 | SHANK2 | c.3251G>C (p.Ser1084Thr) c.796G>C (n.796G>C) c.5018G>C (p.Ser1673Thr) c.2527G>C c.3881G>C (p.Ser1294Thr) c.3308G>C (p.Ser1103Thr) c.3254G>C (p.Ser1085Thr) c.*22G>C (n.*22G>C) c.3230G>C (p.Ser1077Thr) c.794G>C c.2855G>C (p.Ser952Thr) n.1770G>C n.872G>C c.4988G>C (p.Ser1663Thr) c.5030G>C (p.Ser1677Thr) c.5009G>C (p.Ser1670Thr) c.5003G>C (p.Ser1668Thr) c.4982G>C (p.Ser1661Thr) c.3893G>C (p.Ser1298Thr) c.4991G>C (p.Ser1664Thr) n.873G>C | |
| 11 | g.70473401C>T | CA381676732 | SHANK2 | c.3251G>A (p.Ser1084Asn) c.796G>A (n.796G>A) c.5018G>A (p.Ser1673Asn) c.2527G>A c.3881G>A (p.Ser1294Asn) c.3308G>A (p.Ser1103Asn) c.3254G>A (p.Ser1085Asn) c.*22G>A (n.*22G>A) c.3230G>A (p.Ser1077Asn) c.794G>A c.2855G>A (p.Ser952Asn) n.1770G>A n.872G>A c.4988G>A (p.Ser1663Asn) c.5030G>A (p.Ser1677Asn) c.5009G>A (p.Ser1670Asn) c.5003G>A (p.Ser1668Asn) c.4982G>A (p.Ser1661Asn) c.3893G>A (p.Ser1298Asn) c.4991G>A (p.Ser1664Asn) n.873G>A | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.70473402T>A | CA381676734 | SHANK2 | c.3250A>T (p.Ser1084Cys) c.795A>T (n.795A>T) c.5017A>T (p.Ser1673Cys) c.2526A>T c.3880A>T (p.Ser1294Cys) c.3307A>T (p.Ser1103Cys) c.3253A>T (p.Ser1085Cys) c.*21A>T (n.*21A>T) c.3229A>T (p.Ser1077Cys) c.793A>T c.2854A>T (p.Ser952Cys) n.1769A>T n.871A>T c.4987A>T (p.Ser1663Cys) c.5029A>T (p.Ser1677Cys) c.5008A>T (p.Ser1670Cys) c.5002A>T (p.Ser1668Cys) c.4981A>T (p.Ser1661Cys) c.3892A>T (p.Ser1298Cys) c.4990A>T (p.Ser1664Cys) n.872A>T | |
| 11 | g.70473402T>C | CA381676736 | SHANK2 | c.3250A>G (p.Ser1084Gly) c.795A>G (n.795A>G) c.5017A>G (p.Ser1673Gly) c.2526A>G c.3880A>G (p.Ser1294Gly) c.3307A>G (p.Ser1103Gly) c.3253A>G (p.Ser1085Gly) c.*21A>G (n.*21A>G) c.3229A>G (p.Ser1077Gly) c.793A>G c.2854A>G (p.Ser952Gly) n.1769A>G n.871A>G c.4987A>G (p.Ser1663Gly) c.5029A>G (p.Ser1677Gly) c.5008A>G (p.Ser1670Gly) c.5002A>G (p.Ser1668Gly) c.4981A>G (p.Ser1661Gly) c.3892A>G (p.Ser1298Gly) c.4990A>G (p.Ser1664Gly) n.872A>G | |
| 11 | g.70473402T>G | CA381676742 | SHANK2 | c.3250A>C (p.Ser1084Arg) c.795A>C (n.795A>C) c.5017A>C (p.Ser1673Arg) c.2526A>C c.3880A>C (p.Ser1294Arg) c.3307A>C (p.Ser1103Arg) c.3253A>C (p.Ser1085Arg) c.*21A>C (n.*21A>C) c.3229A>C (p.Ser1077Arg) c.793A>C c.2854A>C (p.Ser952Arg) n.1769A>C n.871A>C c.4987A>C (p.Ser1663Arg) c.5029A>C (p.Ser1677Arg) c.5008A>C (p.Ser1670Arg) c.5002A>C (p.Ser1668Arg) c.4981A>C (p.Ser1661Arg) c.3892A>C (p.Ser1298Arg) c.4990A>C (p.Ser1664Arg) n.872A>C | |
| 11 | g.70473403C>A | CA475470834 | SHANK2 | c.3249G>T (p.Arg1083=) c.794G>T (n.794G>T) c.5016G>T (p.Arg1672=) c.2525G>T c.3879G>T (p.Arg1293=) c.3306G>T (p.Arg1102=) c.3252G>T (p.Arg1084=) c.*20G>T (n.*20G>T) c.3228G>T (p.Arg1076=) c.792G>T c.2853G>T (p.Arg951=) n.1768G>T n.870G>T c.4986G>T (p.Arg1662=) c.5028G>T (p.Arg1676=) c.5007G>T (p.Arg1669=) c.5001G>T (p.Arg1667=) c.4980G>T (p.Arg1660=) c.3891G>T (p.Arg1297=) c.4989G>T (p.Arg1663=) n.871G>T | gnomAD v4 |
| 11 | g.70473403C>G | CA475470838 | SHANK2 | c.3249G>C (p.Arg1083=) c.794G>C (n.794G>C) c.5016G>C (p.Arg1672=) c.2525G>C c.3879G>C (p.Arg1293=) c.3306G>C (p.Arg1102=) c.3252G>C (p.Arg1084=) c.*20G>C (n.*20G>C) c.3228G>C (p.Arg1076=) c.792G>C c.2853G>C (p.Arg951=) n.1768G>C n.870G>C c.4986G>C (p.Arg1662=) c.5028G>C (p.Arg1676=) c.5007G>C (p.Arg1669=) c.5001G>C (p.Arg1667=) c.4980G>C (p.Arg1660=) c.3891G>C (p.Arg1297=) c.4989G>C (p.Arg1663=) n.871G>C | |
| 11 | g.70473403C>T | CA475470836 | SHANK2 | c.3249G>A (p.Arg1083=) c.794G>A (n.794G>A) c.5016G>A (p.Arg1672=) c.2525G>A c.3879G>A (p.Arg1293=) c.3306G>A (p.Arg1102=) c.3252G>A (p.Arg1084=) c.*20G>A (n.*20G>A) c.3228G>A (p.Arg1076=) c.792G>A c.2853G>A (p.Arg951=) n.1768G>A n.870G>A c.4986G>A (p.Arg1662=) c.5028G>A (p.Arg1676=) c.5007G>A (p.Arg1669=) c.5001G>A (p.Arg1667=) c.4980G>A (p.Arg1660=) c.3891G>A (p.Arg1297=) c.4989G>A (p.Arg1663=) n.871G>A | |
| 11 | g.70473404C>A | CA381676743 | SHANK2 | c.3248G>T (p.Arg1083Leu) c.793G>T (n.793G>T) c.5015G>T (p.Arg1672Leu) c.2524G>T c.3878G>T (p.Arg1293Leu) c.3305G>T (p.Arg1102Leu) c.3251G>T (p.Arg1084Leu) c.*19G>T (n.*19G>T) c.3227G>T (p.Arg1076Leu) c.791G>T c.2852G>T (p.Arg951Leu) n.1767G>T n.869G>T c.4985G>T (p.Arg1662Leu) c.5027G>T (p.Arg1676Leu) c.5006G>T (p.Arg1669Leu) c.5000G>T (p.Arg1667Leu) c.4979G>T (p.Arg1660Leu) c.3890G>T (p.Arg1297Leu) c.4988G>T (p.Arg1663Leu) n.870G>T | gnomAD v4 |
| 11 | g.70473404C= | CA1981068045 | SHANK2 | c.3248G= (p.Arg1083=) c.793G= (n.793G=) c.5015G= (p.Arg1672=) c.2524G= c.3878G= (p.Arg1293=) c.3305G= (p.Arg1102=) c.3251G= (p.Arg1084=) c.*19G= (n.*19G=) c.3227G= (p.Arg1076=) c.791G= c.2852G= (p.Arg951=) n.1767G= n.869G= c.4985G= (p.Arg1662=) c.5027G= (p.Arg1676=) c.5006G= (p.Arg1669=) c.5000G= (p.Arg1667=) c.4979G= (p.Arg1660=) c.3890G= (p.Arg1297=) c.4988G= (p.Arg1663=) n.870G= | |
| 11 | g.70473404C>G | CA381676744 | SHANK2 | c.3248G>C (p.Arg1083Pro) c.793G>C (n.793G>C) c.5015G>C (p.Arg1672Pro) c.2524G>C c.3878G>C (p.Arg1293Pro) c.3305G>C (p.Arg1102Pro) c.3251G>C (p.Arg1084Pro) c.*19G>C (n.*19G>C) c.3227G>C (p.Arg1076Pro) c.791G>C c.2852G>C (p.Arg951Pro) n.1767G>C n.869G>C c.4985G>C (p.Arg1662Pro) c.5027G>C (p.Arg1676Pro) c.5006G>C (p.Arg1669Pro) c.5000G>C (p.Arg1667Pro) c.4979G>C (p.Arg1660Pro) c.3890G>C (p.Arg1297Pro) c.4988G>C (p.Arg1663Pro) n.870G>C | |
| 11 | g.70473404C>T | CA6160787 | SHANK2 | c.3248G>A (p.Arg1083Gln) c.793G>A (n.793G>A) c.5015G>A (p.Arg1672Gln) c.2524G>A c.3878G>A (p.Arg1293Gln) c.3305G>A (p.Arg1102Gln) c.3251G>A (p.Arg1084Gln) c.*19G>A (n.*19G>A) c.3227G>A (p.Arg1076Gln) c.791G>A c.2852G>A (p.Arg951Gln) n.1767G>A n.869G>A c.4985G>A (p.Arg1662Gln) c.5027G>A (p.Arg1676Gln) c.5006G>A (p.Arg1669Gln) c.5000G>A (p.Arg1667Gln) c.4979G>A (p.Arg1660Gln) c.3890G>A (p.Arg1297Gln) c.4988G>A (p.Arg1663Gln) n.870G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 11 | g.70473405G>A | CA223591893 | SHANK2 | c.3247C>T (p.Arg1083Trp) c.792C>T (n.792C>T) c.5014C>T (p.Arg1672Trp) c.2523C>T c.3877C>T (p.Arg1293Trp) c.3304C>T (p.Arg1102Trp) c.3250C>T (p.Arg1084Trp) c.*18C>T (n.*18C>T) c.3226C>T (p.Arg1076Trp) c.790C>T c.2851C>T (p.Arg951Trp) n.1766C>T n.868C>T c.4984C>T (p.Arg1662Trp) c.5026C>T (p.Arg1676Trp) c.5005C>T (p.Arg1669Trp) c.4999C>T (p.Arg1667Trp) c.4978C>T (p.Arg1660Trp) c.3889C>T (p.Arg1297Trp) c.4987C>T (p.Arg1663Trp) n.869C>T | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.70473405G>C | CA6160788 | SHANK2 | c.3247C>G (p.Arg1083Gly) c.792C>G (n.792C>G) c.5014C>G (p.Arg1672Gly) c.2523C>G c.3877C>G (p.Arg1293Gly) c.3304C>G (p.Arg1102Gly) c.3250C>G (p.Arg1084Gly) c.*18C>G (n.*18C>G) c.3226C>G (p.Arg1076Gly) c.790C>G c.2851C>G (p.Arg951Gly) n.1766C>G n.868C>G c.4984C>G (p.Arg1662Gly) c.5026C>G (p.Arg1676Gly) c.5005C>G (p.Arg1669Gly) c.4999C>G (p.Arg1667Gly) c.4978C>G (p.Arg1660Gly) c.3889C>G (p.Arg1297Gly) c.4987C>G (p.Arg1663Gly) n.869C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.70473405G= | CA1981068046 | SHANK2 | c.3247C= (p.Arg1083=) c.792C= (n.792C=) c.5014C= (p.Arg1672=) c.2523C= c.3877C= (p.Arg1293=) c.3304C= (p.Arg1102=) c.3250C= (p.Arg1084=) c.*18C= (n.*18C=) c.3226C= (p.Arg1076=) c.790C= c.2851C= (p.Arg951=) n.1766C= n.868C= c.4984C= (p.Arg1662=) c.5026C= (p.Arg1676=) c.5005C= (p.Arg1669=) c.4999C= (p.Arg1667=) c.4978C= (p.Arg1660=) c.3889C= (p.Arg1297=) c.4987C= (p.Arg1663=) n.869C= | |
| 11 | g.70473405G>T | CA475470840 | SHANK2 | c.3247C>A (p.Arg1083=) c.792C>A (n.792C>A) c.5014C>A (p.Arg1672=) c.2523C>A c.3877C>A (p.Arg1293=) c.3304C>A (p.Arg1102=) c.3250C>A (p.Arg1084=) c.*18C>A (n.*18C>A) c.3226C>A (p.Arg1076=) c.790C>A c.2851C>A (p.Arg951=) n.1766C>A n.868C>A c.4984C>A (p.Arg1662=) c.5026C>A (p.Arg1676=) c.5005C>A (p.Arg1669=) c.4999C>A (p.Arg1667=) c.4978C>A (p.Arg1660=) c.3889C>A (p.Arg1297=) c.4987C>A (p.Arg1663=) n.869C>A | gnomAD v4 |
| 11 | g.70473406T>A | CA475470841 | SHANK2 | c.3246A>T (p.Thr1082=) c.791A>T (n.791A>T) c.5013A>T (p.Thr1671=) c.2522A>T c.3876A>T (p.Thr1292=) c.3303A>T (p.Thr1101=) c.3249A>T (p.Thr1083=) c.*17A>T (n.*17A>T) c.3225A>T (p.Thr1075=) c.789A>T c.2850A>T (p.Thr950=) n.1765A>T n.867A>T c.4983A>T (p.Thr1661=) c.5025A>T (p.Thr1675=) c.5004A>T (p.Thr1668=) c.4998A>T (p.Thr1666=) c.4977A>T (p.Thr1659=) c.3888A>T (p.Thr1296=) c.4986A>T (p.Thr1662=) n.868A>T | |
| 11 | g.70473406T>C | CA475470842 | SHANK2 | c.3246A>G (p.Thr1082=) c.791A>G (n.791A>G) c.5013A>G (p.Thr1671=) c.2522A>G c.3876A>G (p.Thr1292=) c.3303A>G (p.Thr1101=) c.3249A>G (p.Thr1083=) c.*17A>G (n.*17A>G) c.3225A>G (p.Thr1075=) c.789A>G c.2850A>G (p.Thr950=) n.1765A>G n.867A>G c.4983A>G (p.Thr1661=) c.5025A>G (p.Thr1675=) c.5004A>G (p.Thr1668=) c.4998A>G (p.Thr1666=) c.4977A>G (p.Thr1659=) c.3888A>G (p.Thr1296=) c.4986A>G (p.Thr1662=) n.868A>G | |
| 11 | g.70473406T>G | CA475470843 | SHANK2 | c.3246A>C (p.Thr1082=) c.791A>C (n.791A>C) c.5013A>C (p.Thr1671=) c.2522A>C c.3876A>C (p.Thr1292=) c.3303A>C (p.Thr1101=) c.3249A>C (p.Thr1083=) c.*17A>C (n.*17A>C) c.3225A>C (p.Thr1075=) c.789A>C c.2850A>C (p.Thr950=) n.1765A>C n.867A>C c.4983A>C (p.Thr1661=) c.5025A>C (p.Thr1675=) c.5004A>C (p.Thr1668=) c.4998A>C (p.Thr1666=) c.4977A>C (p.Thr1659=) c.3888A>C (p.Thr1296=) c.4986A>C (p.Thr1662=) n.868A>C | |
| 11 | g.70473407G>A | CA223591898 | SHANK2 | c.3245C>T (p.Thr1082Ile) c.790C>T (n.790C>T) c.5012C>T (p.Thr1671Ile) c.2521C>T c.3875C>T (p.Thr1292Ile) c.3302C>T (p.Thr1101Ile) c.3248C>T (p.Thr1083Ile) c.*16C>T (n.*16C>T) c.3224C>T (p.Thr1075Ile) c.788C>T c.2849C>T (p.Thr950Ile) n.1764C>T n.866C>T c.4982C>T (p.Thr1661Ile) c.5024C>T (p.Thr1675Ile) c.5003C>T (p.Thr1668Ile) c.4997C>T (p.Thr1666Ile) c.4976C>T (p.Thr1659Ile) c.3887C>T (p.Thr1296Ile) c.4985C>T (p.Thr1662Ile) n.867C>T | dbSNP |
| 11 | g.70473407G>C | CA381676753 | SHANK2 | c.3245C>G (p.Thr1082Arg) c.790C>G (n.790C>G) c.5012C>G (p.Thr1671Arg) c.2521C>G c.3875C>G (p.Thr1292Arg) c.3302C>G (p.Thr1101Arg) c.3248C>G (p.Thr1083Arg) c.*16C>G (n.*16C>G) c.3224C>G (p.Thr1075Arg) c.788C>G c.2849C>G (p.Thr950Arg) n.1764C>G n.866C>G c.4982C>G (p.Thr1661Arg) c.5024C>G (p.Thr1675Arg) c.5003C>G (p.Thr1668Arg) c.4997C>G (p.Thr1666Arg) c.4976C>G (p.Thr1659Arg) c.3887C>G (p.Thr1296Arg) c.4985C>G (p.Thr1662Arg) n.867C>G | |
| 11 | g.70473407G= | CA1981068047 | SHANK2 | c.3245C= (p.Thr1082=) c.790C= (n.790C=) c.5012C= (p.Thr1671=) c.2521C= c.3875C= (p.Thr1292=) c.3302C= (p.Thr1101=) c.3248C= (p.Thr1083=) c.*16C= (n.*16C=) c.3224C= (p.Thr1075=) c.788C= c.2849C= (p.Thr950=) n.1764C= n.866C= c.4982C= (p.Thr1661=) c.5024C= (p.Thr1675=) c.5003C= (p.Thr1668=) c.4997C= (p.Thr1666=) c.4976C= (p.Thr1659=) c.3887C= (p.Thr1296=) c.4985C= (p.Thr1662=) n.867C= | |
| 11 | g.70473407G>T | CA381676755 | SHANK2 | c.3245C>A (p.Thr1082Lys) c.790C>A (n.790C>A) c.5012C>A (p.Thr1671Lys) c.2521C>A c.3875C>A (p.Thr1292Lys) c.3302C>A (p.Thr1101Lys) c.3248C>A (p.Thr1083Lys) c.*16C>A (n.*16C>A) c.3224C>A (p.Thr1075Lys) c.788C>A c.2849C>A (p.Thr950Lys) n.1764C>A n.866C>A c.4982C>A (p.Thr1661Lys) c.5024C>A (p.Thr1675Lys) c.5003C>A (p.Thr1668Lys) c.4997C>A (p.Thr1666Lys) c.4976C>A (p.Thr1659Lys) c.3887C>A (p.Thr1296Lys) c.4985C>A (p.Thr1662Lys) n.867C>A | gnomAD v4 |
| 11 | g.70473408T>A | CA381676758 | SHANK2 | c.3244A>T (p.Thr1082Ser) c.789A>T (n.789A>T) c.5011A>T (p.Thr1671Ser) c.2520A>T c.3874A>T (p.Thr1292Ser) c.3301A>T (p.Thr1101Ser) c.3247A>T (p.Thr1083Ser) c.*15A>T (n.*15A>T) c.3223A>T (p.Thr1075Ser) c.787A>T c.2848A>T (p.Thr950Ser) n.1763A>T n.865A>T c.4981A>T (p.Thr1661Ser) c.5023A>T (p.Thr1675Ser) c.5002A>T (p.Thr1668Ser) c.4996A>T (p.Thr1666Ser) c.4975A>T (p.Thr1659Ser) c.3886A>T (p.Thr1296Ser) c.4984A>T (p.Thr1662Ser) n.866A>T | |
| 11 | g.70473408T>C | CA381676761 | SHANK2 | c.3244A>G (p.Thr1082Ala) c.789A>G (n.789A>G) c.5011A>G (p.Thr1671Ala) c.2520A>G c.3874A>G (p.Thr1292Ala) c.3301A>G (p.Thr1101Ala) c.3247A>G (p.Thr1083Ala) c.*15A>G (n.*15A>G) c.3223A>G (p.Thr1075Ala) c.787A>G c.2848A>G (p.Thr950Ala) n.1763A>G n.865A>G c.4981A>G (p.Thr1661Ala) c.5023A>G (p.Thr1675Ala) c.5002A>G (p.Thr1668Ala) c.4996A>G (p.Thr1666Ala) c.4975A>G (p.Thr1659Ala) c.3886A>G (p.Thr1296Ala) c.4984A>G (p.Thr1662Ala) n.866A>G | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.70473408T>G | CA381676763 | SHANK2 | c.3244A>C (p.Thr1082Pro) c.789A>C (n.789A>C) c.5011A>C (p.Thr1671Pro) c.2520A>C c.3874A>C (p.Thr1292Pro) c.3301A>C (p.Thr1101Pro) c.3247A>C (p.Thr1083Pro) c.*15A>C (n.*15A>C) c.3223A>C (p.Thr1075Pro) c.787A>C c.2848A>C (p.Thr950Pro) n.1763A>C n.865A>C c.4981A>C (p.Thr1661Pro) c.5023A>C (p.Thr1675Pro) c.5002A>C (p.Thr1668Pro) c.4996A>C (p.Thr1666Pro) c.4975A>C (p.Thr1659Pro) c.3886A>C (p.Thr1296Pro) c.4984A>C (p.Thr1662Pro) n.866A>C | |
| 11 | g.70473408T= | CA1981068048 | SHANK2 | c.3244A= (p.Thr1082=) c.789A= (n.789A=) c.5011A= (p.Thr1671=) c.2520A= c.3874A= (p.Thr1292=) c.3301A= (p.Thr1101=) c.3247A= (p.Thr1083=) c.*15A= (n.*15A=) c.3223A= (p.Thr1075=) c.787A= c.2848A= (p.Thr950=) n.1763A= n.865A= c.4981A= (p.Thr1661=) c.5023A= (p.Thr1675=) c.5002A= (p.Thr1668=) c.4996A= (p.Thr1666=) c.4975A= (p.Thr1659=) c.3886A= (p.Thr1296=) c.4984A= (p.Thr1662=) n.866A= | |
| 11 | g.70473409A>C | CA475470847 | SHANK2 | c.3243T>G (p.Gly1081=) c.788T>G (n.788T>G) c.5010T>G (p.Gly1670=) c.2519T>G c.3873T>G (p.Gly1291=) c.3300T>G (p.Gly1100=) c.3246T>G (p.Gly1082=) c.*14T>G (n.*14T>G) c.3222T>G (p.Gly1074=) c.786T>G c.2847T>G (p.Gly949=) n.1762T>G n.864T>G c.4980T>G (p.Gly1660=) c.5022T>G (p.Gly1674=) c.5001T>G (p.Gly1667=) c.4995T>G (p.Gly1665=) c.4974T>G (p.Gly1658=) c.3885T>G (p.Gly1295=) c.4983T>G (p.Gly1661=) n.865T>G | |
| 11 | g.70473409A>G | CA475470848 | SHANK2 | c.3243T>C (p.Gly1081=) c.788T>C (n.788T>C) c.5010T>C (p.Gly1670=) c.2519T>C c.3873T>C (p.Gly1291=) c.3300T>C (p.Gly1100=) c.3246T>C (p.Gly1082=) c.*14T>C (n.*14T>C) c.3222T>C (p.Gly1074=) c.786T>C c.2847T>C (p.Gly949=) n.1762T>C n.864T>C c.4980T>C (p.Gly1660=) c.5022T>C (p.Gly1674=) c.5001T>C (p.Gly1667=) c.4995T>C (p.Gly1665=) c.4974T>C (p.Gly1658=) c.3885T>C (p.Gly1295=) c.4983T>C (p.Gly1661=) n.865T>C | |
| 11 | g.70473409A>T | CA475470849 | SHANK2 | c.3243T>A (p.Gly1081=) c.788T>A (n.788T>A) c.5010T>A (p.Gly1670=) c.2519T>A c.3873T>A (p.Gly1291=) c.3300T>A (p.Gly1100=) c.3246T>A (p.Gly1082=) c.*14T>A (n.*14T>A) c.3222T>A (p.Gly1074=) c.786T>A c.2847T>A (p.Gly949=) n.1762T>A n.864T>A c.4980T>A (p.Gly1660=) c.5022T>A (p.Gly1674=) c.5001T>A (p.Gly1667=) c.4995T>A (p.Gly1665=) c.4974T>A (p.Gly1658=) c.3885T>A (p.Gly1295=) c.4983T>A (p.Gly1661=) n.865T>A | |
| 11 | g.70473409_70473411delinsTCCA | CA2580084801 | SHANK2 | c.3241_3243delinsTGGA (p.Gly1081TrpfsTer29) c.786_788delinsTGGA (n.786_788delinsTGGA) c.5008_5010delinsTGGA (p.Gly1670TrpfsTer29) c.2517_2519delinsTGGA c.3871_3873delinsTGGA (p.Gly1291TrpfsTer29) c.3298_3300delinsTGGA (p.Gly1100TrpfsTer29) c.3244_3246delinsTGGA (p.Gly1082TrpfsTer29) c.*12_*14delinsTGGA (n.*12_*14delinsTGGA) c.3220_3222delinsTGGA (p.Gly1074TrpfsTer29) c.784_786delinsTGGA c.2845_2847delinsTGGA (p.Gly949TrpfsTer29) n.1760_1762delinsTGGA n.862_864delinsTGGA c.4978_4980delinsTGGA (p.Gly1660TrpfsTer29) c.5020_5022delinsTGGA (p.Gly1674TrpfsTer29) c.4999_5001delinsTGGA (p.Gly1667TrpfsTer29) c.4993_4995delinsTGGA (p.Gly1665TrpfsTer29) c.4972_4974delinsTGGA (p.Gly1658TrpfsTer29) c.3883_3885delinsTGGA (p.Gly1295TrpfsTer29) c.4981_4983delinsTGGA (p.Gly1661TrpfsTer29) n.863_865delinsTGGA | ClinVar dbSNP |
| 11 | g.70473410C>A | CA381676764 | SHANK2 | c.3242G>T (p.Gly1081Val) c.787G>T (n.787G>T) c.5009G>T (p.Gly1670Val) c.2518G>T c.3872G>T (p.Gly1291Val) c.3299G>T (p.Gly1100Val) c.3245G>T (p.Gly1082Val) c.*13G>T (n.*13G>T) c.3221G>T (p.Gly1074Val) c.785G>T c.2846G>T (p.Gly949Val) n.1761G>T n.863G>T c.4979G>T (p.Gly1660Val) c.5021G>T (p.Gly1674Val) c.5000G>T (p.Gly1667Val) c.4994G>T (p.Gly1665Val) c.4973G>T (p.Gly1658Val) c.3884G>T (p.Gly1295Val) c.4982G>T (p.Gly1661Val) n.864G>T | |
| 11 | g.70473410C>G | CA381676765 | SHANK2 | c.3242G>C (p.Gly1081Ala) c.787G>C (n.787G>C) c.5009G>C (p.Gly1670Ala) c.2518G>C c.3872G>C (p.Gly1291Ala) c.3299G>C (p.Gly1100Ala) c.3245G>C (p.Gly1082Ala) c.*13G>C (n.*13G>C) c.3221G>C (p.Gly1074Ala) c.785G>C c.2846G>C (p.Gly949Ala) n.1761G>C n.863G>C c.4979G>C (p.Gly1660Ala) c.5021G>C (p.Gly1674Ala) c.5000G>C (p.Gly1667Ala) c.4994G>C (p.Gly1665Ala) c.4973G>C (p.Gly1658Ala) c.3884G>C (p.Gly1295Ala) c.4982G>C (p.Gly1661Ala) n.864G>C | |
| 11 | g.70473410C>T | CA381676766 | SHANK2 | c.3242G>A (p.Gly1081Asp) c.787G>A (n.787G>A) c.5009G>A (p.Gly1670Asp) c.2518G>A c.3872G>A (p.Gly1291Asp) c.3299G>A (p.Gly1100Asp) c.3245G>A (p.Gly1082Asp) c.*13G>A (n.*13G>A) c.3221G>A (p.Gly1074Asp) c.785G>A c.2846G>A (p.Gly949Asp) n.1761G>A n.863G>A c.4979G>A (p.Gly1660Asp) c.5021G>A (p.Gly1674Asp) c.5000G>A (p.Gly1667Asp) c.4994G>A (p.Gly1665Asp) c.4973G>A (p.Gly1658Asp) c.3884G>A (p.Gly1295Asp) c.4982G>A (p.Gly1661Asp) n.864G>A | |
| 11 | g.70473411C>A | CA381676768 | SHANK2 | c.3241G>T (p.Gly1081Cys) c.786G>T (n.786G>T) c.5008G>T (p.Gly1670Cys) c.2517G>T c.3871G>T (p.Gly1291Cys) c.3298G>T (p.Gly1100Cys) c.3244G>T (p.Gly1082Cys) c.*12G>T (n.*12G>T) c.3220G>T (p.Gly1074Cys) c.784G>T c.2845G>T (p.Gly949Cys) n.1760G>T n.862G>T c.4978G>T (p.Gly1660Cys) c.5020G>T (p.Gly1674Cys) c.4999G>T (p.Gly1667Cys) c.4993G>T (p.Gly1665Cys) c.4972G>T (p.Gly1658Cys) c.3883G>T (p.Gly1295Cys) c.4981G>T (p.Gly1661Cys) n.863G>T | |
| 11 | g.70473411C>G | CA381676772 | SHANK2 | c.3241G>C (p.Gly1081Arg) c.786G>C (n.786G>C) c.5008G>C (p.Gly1670Arg) c.2517G>C c.3871G>C (p.Gly1291Arg) c.3298G>C (p.Gly1100Arg) c.3244G>C (p.Gly1082Arg) c.*12G>C (n.*12G>C) c.3220G>C (p.Gly1074Arg) c.784G>C c.2845G>C (p.Gly949Arg) n.1760G>C n.862G>C c.4978G>C (p.Gly1660Arg) c.5020G>C (p.Gly1674Arg) c.4999G>C (p.Gly1667Arg) c.4993G>C (p.Gly1665Arg) c.4972G>C (p.Gly1658Arg) c.3883G>C (p.Gly1295Arg) c.4981G>C (p.Gly1661Arg) n.863G>C | |
| 11 | g.70473411C>T | CA381676769 | SHANK2 | c.3241G>A (p.Gly1081Ser) c.786G>A (n.786G>A) c.5008G>A (p.Gly1670Ser) c.2517G>A c.3871G>A (p.Gly1291Ser) c.3298G>A (p.Gly1100Ser) c.3244G>A (p.Gly1082Ser) c.*12G>A (n.*12G>A) c.3220G>A (p.Gly1074Ser) c.784G>A c.2845G>A (p.Gly949Ser) n.1760G>A n.862G>A c.4978G>A (p.Gly1660Ser) c.5020G>A (p.Gly1674Ser) c.4999G>A (p.Gly1667Ser) c.4993G>A (p.Gly1665Ser) c.4972G>A (p.Gly1658Ser) c.3883G>A (p.Gly1295Ser) c.4981G>A (p.Gly1661Ser) n.863G>A |