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.50721847_50721848del | CA891842415 | SHANK3 | c.3615_3616del (p.Gly1206GlufsTer5) n.4199_4200del c.2667_2668del (p.Gly890GlufsTer5) c.2157_2158del (p.Gly720GlufsTer5) c.*2613_*2614del (n.*2613_*2614del) c.4011_4012del (p.Gly1338GlufsTer5) c.3993_3994del (p.Gly1332GlufsTer5) | |
| 22 | g.50721848G>A | CA515263677 | SHANK3 | c.3616G>A (p.Gly1206Arg) n.4200G>A c.2668G>A (p.Gly890Arg) c.2158G>A (p.Gly720Arg) c.*2614G>A (n.*2614G>A) c.4012G>A (p.Gly1338Arg) c.3994G>A (p.Gly1332Arg) | |
| 22 | g.50721848G>C | CA515263678 | SHANK3 | c.3616G>C (p.Gly1206Arg) n.4200G>C c.2668G>C (p.Gly890Arg) c.2158G>C (p.Gly720Arg) c.*2614G>C (n.*2614G>C) c.4012G>C (p.Gly1338Arg) c.3994G>C (p.Gly1332Arg) | |
| 22 | g.50721848G>T | CA515263679 | SHANK3 | c.3616G>T (p.Gly1206Trp) n.4200G>T c.2668G>T (p.Gly890Trp) c.2158G>T (p.Gly720Trp) c.*2614G>T (n.*2614G>T) c.4012G>T (p.Gly1338Trp) c.3994G>T (p.Gly1332Trp) | gnomAD v4 |
| 22 | g.50721850del | CA2657581368 | SHANK3 | c.3618del (p.Lys1207SerfsTer?) n.4202del c.2670del (p.Lys891SerfsTer?) c.2160del (p.Lys721SerfsTer?) c.*2616del (n.*2616del) c.4014del (p.Lys1339SerfsTer?) c.3996del (p.Lys1333SerfsTer?) | gnomAD v4 |
| 22 | g.50721849G>A | CA515263680 | SHANK3 | c.3617G>A (p.Gly1206Glu) n.4201G>A c.2669G>A (p.Gly890Glu) c.2159G>A (p.Gly720Glu) c.*2615G>A (n.*2615G>A) c.4013G>A (p.Gly1338Glu) c.3995G>A (p.Gly1332Glu) | |
| 22 | g.50721849G>C | CA515263681 | SHANK3 | c.3617G>C (p.Gly1206Ala) n.4201G>C c.2669G>C (p.Gly890Ala) c.2159G>C (p.Gly720Ala) c.*2615G>C (n.*2615G>C) c.4013G>C (p.Gly1338Ala) c.3995G>C (p.Gly1332Ala) | |
| 22 | g.50721849G>T | CA515263682 | SHANK3 | c.3617G>T (p.Gly1206Val) n.4201G>T c.2669G>T (p.Gly890Val) c.2159G>T (p.Gly720Val) c.*2615G>T (n.*2615G>T) c.4013G>T (p.Gly1338Val) c.3995G>T (p.Gly1332Val) | |
| 22 | g.50721850G>A | CA515263685 | SHANK3 | c.3618G>A (p.Gly1206=) n.4202G>A c.2670G>A (p.Gly890=) c.2160G>A (p.Gly720=) c.*2616G>A (n.*2616G>A) c.4014G>A (p.Gly1338=) c.3996G>A (p.Gly1332=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721850G>C | CA515263686 | SHANK3 | c.3618G>C (p.Gly1206=) n.4202G>C c.2670G>C (p.Gly890=) c.2160G>C (p.Gly720=) c.*2616G>C (n.*2616G>C) c.4014G>C (p.Gly1338=) c.3996G>C (p.Gly1332=) | |
| 22 | g.50721850G= | CA2411008497 | SHANK3 | c.3618G= (p.Gly1206=) n.4202G= c.2670G= (p.Gly890=) c.2160G= (p.Gly720=) c.*2616G= (n.*2616G=) c.4014G= (p.Gly1338=) c.3996G= (p.Gly1332=) | |
| 22 | g.50721850G>T | CA515263688 | SHANK3 | c.3618G>T (p.Gly1206=) n.4202G>T c.2670G>T (p.Gly890=) c.2160G>T (p.Gly720=) c.*2616G>T (n.*2616G>T) c.4014G>T (p.Gly1338=) c.3996G>T (p.Gly1332=) | |
| 22 | g.50721851A>C | CA515263689 | SHANK3 | c.3619A>C (p.Lys1207Gln) n.4203A>C c.2671A>C (p.Lys891Gln) c.2161A>C (p.Lys721Gln) c.*2617A>C (n.*2617A>C) c.4015A>C (p.Lys1339Gln) c.3997A>C (p.Lys1333Gln) | |
| 22 | g.50721851A>G | CA515263690 | SHANK3 | c.3619A>G (p.Lys1207Glu) n.4203A>G c.2671A>G (p.Lys891Glu) c.2161A>G (p.Lys721Glu) c.*2617A>G (n.*2617A>G) c.4015A>G (p.Lys1339Glu) c.3997A>G (p.Lys1333Glu) | |
| 22 | g.50721851A>T | CA515263691 | SHANK3 | c.3619A>T (p.Lys1207Ter) n.4203A>T c.2671A>T (p.Lys891Ter) c.2161A>T (p.Lys721Ter) c.*2617A>T (n.*2617A>T) c.4015A>T (p.Lys1339Ter) c.3997A>T (p.Lys1333Ter) | |
| 22 | g.50721852A>C | CA515263694 | SHANK3 | c.3620A>C (p.Lys1207Thr) n.4204A>C c.2672A>C (p.Lys891Thr) c.2162A>C (p.Lys721Thr) c.*2618A>C (n.*2618A>C) c.4016A>C (p.Lys1339Thr) c.3998A>C (p.Lys1333Thr) | |
| 22 | g.50721852A>G | CA515263693 | SHANK3 | c.3620A>G (p.Lys1207Arg) n.4204A>G c.2672A>G (p.Lys891Arg) c.2162A>G (p.Lys721Arg) c.*2618A>G (n.*2618A>G) c.4016A>G (p.Lys1339Arg) c.3998A>G (p.Lys1333Arg) | gnomAD v4 |
| 22 | g.50721852A>T | CA515263692 | SHANK3 | c.3620A>T (p.Lys1207Met) n.4204A>T c.2672A>T (p.Lys891Met) c.2162A>T (p.Lys721Met) c.*2618A>T (n.*2618A>T) c.4016A>T (p.Lys1339Met) c.3998A>T (p.Lys1333Met) | |
| 22 | g.50721853G>A | CA515263695 | SHANK3 | c.3621G>A (p.Lys1207=) n.4205G>A c.2673G>A (p.Lys891=) c.2163G>A (p.Lys721=) c.*2619G>A (n.*2619G>A) c.4017G>A (p.Lys1339=) c.3999G>A (p.Lys1333=) | |
| 22 | g.50721853G>C | CA515263696 | SHANK3 | c.3621G>C (p.Lys1207Asn) n.4205G>C c.2673G>C (p.Lys891Asn) c.2163G>C (p.Lys721Asn) c.*2619G>C (n.*2619G>C) c.4017G>C (p.Lys1339Asn) c.3999G>C (p.Lys1333Asn) | |
| 22 | g.50721853G>T | CA515263698 | SHANK3 | c.3621G>T (p.Lys1207Asn) n.4205G>T c.2673G>T (p.Lys891Asn) c.2163G>T (p.Lys721Asn) c.*2619G>T (n.*2619G>T) c.4017G>T (p.Lys1339Asn) c.3999G>T (p.Lys1333Asn) | gnomAD v4 |
| 22 | g.50721854C>A | CA515263699 | SHANK3 | c.3622C>A (p.Pro1208Thr) n.4206C>A c.2674C>A (p.Pro892Thr) c.2164C>A (p.Pro722Thr) c.*2620C>A (n.*2620C>A) c.4018C>A (p.Pro1340Thr) c.4000C>A (p.Pro1334Thr) | |
| 22 | g.50721854C>G | CA515263701 | SHANK3 | c.3622C>G (p.Pro1208Ala) n.4206C>G c.2674C>G (p.Pro892Ala) c.2164C>G (p.Pro722Ala) c.*2620C>G (n.*2620C>G) c.4018C>G (p.Pro1340Ala) c.4000C>G (p.Pro1334Ala) | |
| 22 | g.50721854C>T | CA515263702 | SHANK3 | c.3622C>T (p.Pro1208Ser) n.4206C>T c.2674C>T (p.Pro892Ser) c.2164C>T (p.Pro722Ser) c.*2620C>T (n.*2620C>T) c.4018C>T (p.Pro1340Ser) c.4000C>T (p.Pro1334Ser) | gnomAD v4 |
| 22 | g.50721855C>A | CA515263703 | SHANK3 | c.3623C>A (p.Pro1208His) n.4207C>A c.2675C>A (p.Pro892His) c.2165C>A (p.Pro722His) c.*2621C>A (n.*2621C>A) c.4019C>A (p.Pro1340His) c.4001C>A (p.Pro1334His) | |
| 22 | g.50721855C>G | CA515263704 | SHANK3 | c.3623C>G (p.Pro1208Arg) n.4207C>G c.2675C>G (p.Pro892Arg) c.2165C>G (p.Pro722Arg) c.*2621C>G (n.*2621C>G) c.4019C>G (p.Pro1340Arg) c.4001C>G (p.Pro1334Arg) | |
| 22 | g.50721855C>T | CA515263705 | SHANK3 | c.3623C>T (p.Pro1208Leu) n.4207C>T c.2675C>T (p.Pro892Leu) c.2165C>T (p.Pro722Leu) c.*2621C>T (n.*2621C>T) c.4019C>T (p.Pro1340Leu) c.4001C>T (p.Pro1334Leu) | COSMIC COSMIC |
| 22 | g.50721856C>A | CA515263706 | SHANK3 | c.3624C>A (p.Pro1208=) n.4208C>A c.2676C>A (p.Pro892=) c.2166C>A (p.Pro722=) c.*2622C>A (n.*2622C>A) c.4020C>A (p.Pro1340=) c.4002C>A (p.Pro1334=) | |
| 22 | g.50721856C>G | CA515263707 | SHANK3 | c.3624C>G (p.Pro1208=) n.4208C>G c.2676C>G (p.Pro892=) c.2166C>G (p.Pro722=) c.*2622C>G (n.*2622C>G) c.4020C>G (p.Pro1340=) c.4002C>G (p.Pro1334=) | |
| 22 | g.50721856C>T | CA515263708 | SHANK3 | c.3624C>T (p.Pro1208=) n.4208C>T c.2676C>T (p.Pro892=) c.2166C>T (p.Pro722=) c.*2622C>T (n.*2622C>T) c.4020C>T (p.Pro1340=) c.4002C>T (p.Pro1334=) | gnomAD v4 |
| 22 | g.50721857A>C | CA515263712 | SHANK3 | c.3625A>C (p.Ser1209Arg) n.4209A>C c.2677A>C (p.Ser893Arg) c.2167A>C (p.Ser723Arg) c.*2623A>C (n.*2623A>C) c.4021A>C (p.Ser1341Arg) c.4003A>C (p.Ser1335Arg) | gnomAD v4 |
| 22 | g.50721857A>G | CA515263709 | SHANK3 | c.3625A>G (p.Ser1209Gly) n.4209A>G c.2677A>G (p.Ser893Gly) c.2167A>G (p.Ser723Gly) c.*2623A>G (n.*2623A>G) c.4021A>G (p.Ser1341Gly) c.4003A>G (p.Ser1335Gly) | |
| 22 | g.50721857A>T | CA515263710 | SHANK3 | c.3625A>T (p.Ser1209Cys) n.4209A>T c.2677A>T (p.Ser893Cys) c.2167A>T (p.Ser723Cys) c.*2623A>T (n.*2623A>T) c.4021A>T (p.Ser1341Cys) c.4003A>T (p.Ser1335Cys) | |
| 22 | g.50721858G>A | CA515263713 | SHANK3 | c.3626G>A (p.Ser1209Asn) n.4210G>A c.2678G>A (p.Ser893Asn) c.2168G>A (p.Ser723Asn) c.*2624G>A (n.*2624G>A) c.4022G>A (p.Ser1341Asn) c.4004G>A (p.Ser1335Asn) | gnomAD v4 |
| 22 | g.50721858G>C | CA515263714 | SHANK3 | c.3626G>C (p.Ser1209Thr) n.4210G>C c.2678G>C (p.Ser893Thr) c.2168G>C (p.Ser723Thr) c.*2624G>C (n.*2624G>C) c.4022G>C (p.Ser1341Thr) c.4004G>C (p.Ser1335Thr) | |
| 22 | g.50721858G>T | CA515263715 | SHANK3 | c.3626G>T (p.Ser1209Ile) n.4210G>T c.2678G>T (p.Ser893Ile) c.2168G>T (p.Ser723Ile) c.*2624G>T (n.*2624G>T) c.4022G>T (p.Ser1341Ile) c.4004G>T (p.Ser1335Ile) | gnomAD v4 |
| 22 | g.50721859C>A | CA515263716 | SHANK3 | c.3627C>A (p.Ser1209Arg) n.4211C>A c.2679C>A (p.Ser893Arg) c.2169C>A (p.Ser723Arg) c.*2625C>A (n.*2625C>A) c.4023C>A (p.Ser1341Arg) c.4005C>A (p.Ser1335Arg) | gnomAD v4 |
| 22 | g.50721859C= | CA2411008498 | SHANK3 | c.3627C= (p.Ser1209=) n.4211C= c.2679C= (p.Ser893=) c.2169C= (p.Ser723=) c.*2625C= (n.*2625C=) c.4023C= (p.Ser1341=) c.4005C= (p.Ser1335=) | |
| 22 | g.50721859C>G | CA515263717 | SHANK3 | c.3627C>G (p.Ser1209Arg) n.4211C>G c.2679C>G (p.Ser893Arg) c.2169C>G (p.Ser723Arg) c.*2625C>G (n.*2625C>G) c.4023C>G (p.Ser1341Arg) c.4005C>G (p.Ser1335Arg) | |
| 22 | g.50721859C>T | CA515263718 | SHANK3 | c.3627C>T (p.Ser1209=) n.4211C>T c.2679C>T (p.Ser893=) c.2169C>T (p.Ser723=) c.*2625C>T (n.*2625C>T) c.4023C>T (p.Ser1341=) c.4005C>T (p.Ser1335=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721860A>C | CA515263723 | SHANK3 | c.3628A>C (p.Ser1210Arg) n.4212A>C c.2680A>C (p.Ser894Arg) c.2170A>C (p.Ser724Arg) c.*2626A>C (n.*2626A>C) c.4024A>C (p.Ser1342Arg) c.4006A>C (p.Ser1336Arg) | |
| 22 | g.50721860A>G | CA515263720 | SHANK3 | c.3628A>G (p.Ser1210Gly) n.4212A>G c.2680A>G (p.Ser894Gly) c.2170A>G (p.Ser724Gly) c.*2626A>G (n.*2626A>G) c.4024A>G (p.Ser1342Gly) c.4006A>G (p.Ser1336Gly) | |
| 22 | g.50721860A>T | CA515263719 | SHANK3 | c.3628A>T (p.Ser1210Cys) n.4212A>T c.2680A>T (p.Ser894Cys) c.2170A>T (p.Ser724Cys) c.*2626A>T (n.*2626A>T) c.4024A>T (p.Ser1342Cys) c.4006A>T (p.Ser1336Cys) | |
| 22 | g.50721860_50721862delinsAGT | CA2411008499 | SHANK3 | c.3628_3630delinsAGT (p.Ser1210=) n.4212_4214delinsAGT c.2680_2682delinsAGT (p.Ser894=) c.2170_2172delinsAGT (p.Ser724=) c.*2626_*2628delinsAGT (n.*2626_*2628delinsAGT) c.4024_4026delinsAGT (p.Ser1342=) c.4006_4008delinsAGT (p.Ser1336=) | |
| 22 | g.50721861G>A | CA515263725 | SHANK3 | c.3629G>A (p.Ser1210Asn) n.4213G>A c.2681G>A (p.Ser894Asn) c.2171G>A (p.Ser724Asn) c.*2627G>A (n.*2627G>A) c.4025G>A (p.Ser1342Asn) c.4007G>A (p.Ser1336Asn) | gnomAD v4 |
| 22 | g.50721861G>C | CA515263726 | SHANK3 | c.3629G>C (p.Ser1210Thr) n.4213G>C c.2681G>C (p.Ser894Thr) c.2171G>C (p.Ser724Thr) c.*2627G>C (n.*2627G>C) c.4025G>C (p.Ser1342Thr) c.4007G>C (p.Ser1336Thr) | |
| 22 | g.50721861G>T | CA515263727 | SHANK3 | c.3629G>T (p.Ser1210Ile) n.4213G>T c.2681G>T (p.Ser894Ile) c.2171G>T (p.Ser724Ile) c.*2627G>T (n.*2627G>T) c.4025G>T (p.Ser1342Ile) c.4007G>T (p.Ser1336Ile) | gnomAD v4 |
| 22 | g.50721862_50721863del | CA16044366 | SHANK3 | c.3630_3631del (p.Ser1210ArgfsTer7) n.4214_4215del c.2682_2683del (p.Ser894ArgfsTer7) c.2172_2173del (p.Ser724ArgfsTer7) c.*2628_*2629del (n.*2628_*2629del) c.4026_4027del (p.Ser1342ArgfsTer7) c.4008_4009del (p.Ser1336ArgfsTer7) | ClinVar dbSNP |
| 22 | g.50721862T>A | CA515263728 | SHANK3 | c.3630T>A (p.Ser1210Arg) n.4214T>A c.2682T>A (p.Ser894Arg) c.2172T>A (p.Ser724Arg) c.*2628T>A (n.*2628T>A) c.4026T>A (p.Ser1342Arg) c.4008T>A (p.Ser1336Arg) | |
| 22 | g.50721862T>C | CA515263729 | SHANK3 | c.3630T>C (p.Ser1210=) n.4214T>C c.2682T>C (p.Ser894=) c.2172T>C (p.Ser724=) c.*2628T>C (n.*2628T>C) c.4026T>C (p.Ser1342=) c.4008T>C (p.Ser1336=) | |
| 22 | g.50721862T>G | CA515263730 | SHANK3 | c.3630T>G (p.Ser1210Arg) n.4214T>G c.2682T>G (p.Ser894Arg) c.2172T>G (p.Ser724Arg) c.*2628T>G (n.*2628T>G) c.4026T>G (p.Ser1342Arg) c.4008T>G (p.Ser1336Arg) | |
| 22 | g.50721863G>A | CA515263731 | SHANK3 | c.3631G>A (p.Glu1211Lys) n.4215G>A c.2683G>A (p.Glu895Lys) c.2173G>A (p.Glu725Lys) c.*2629G>A (n.*2629G>A) c.4027G>A (p.Glu1343Lys) c.4009G>A (p.Glu1337Lys) | gnomAD v4 |
| 22 | g.50721863G>C | CA515263733 | SHANK3 | c.3631G>C (p.Glu1211Gln) n.4215G>C c.2683G>C (p.Glu895Gln) c.2173G>C (p.Glu725Gln) c.*2629G>C (n.*2629G>C) c.4027G>C (p.Glu1343Gln) c.4009G>C (p.Glu1337Gln) | |
| 22 | g.50721863G>T | CA515263732 | SHANK3 | c.3631G>T (p.Glu1211Ter) n.4215G>T c.2683G>T (p.Glu895Ter) c.2173G>T (p.Glu725Ter) c.*2629G>T (n.*2629G>T) c.4027G>T (p.Glu1343Ter) c.4009G>T (p.Glu1337Ter) | gnomAD v4 |
| 22 | g.50721863_50721867delinsGAGCC | CA2411008500 | SHANK3 | c.3631_3635delinsGAGCC (p.Glu1211=) n.4215_4219delinsGAGCC c.2683_2687delinsGAGCC (p.Glu895=) c.2173_2177delinsGAGCC (p.Glu725=) c.*2629_*2633delinsGAGCC (n.*2629_*2633delinsGAGCC) c.4027_4031delinsGAGCC (p.Glu1343=) c.4009_4013delinsGAGCC (p.Glu1337=) | |
| 22 | g.50721864A>C | CA515263735 | SHANK3 | c.3632A>C (p.Glu1211Ala) n.4216A>C c.2684A>C (p.Glu895Ala) c.2174A>C (p.Glu725Ala) c.*2630A>C (n.*2630A>C) c.4028A>C (p.Glu1343Ala) c.4010A>C (p.Glu1337Ala) | |
| 22 | g.50721864A>G | CA515263736 | SHANK3 | c.3632A>G (p.Glu1211Gly) n.4216A>G c.2684A>G (p.Glu895Gly) c.2174A>G (p.Glu725Gly) c.*2630A>G (n.*2630A>G) c.4028A>G (p.Glu1343Gly) c.4010A>G (p.Glu1337Gly) | |
| 22 | g.50721864A>T | CA515263737 | SHANK3 | c.3632A>T (p.Glu1211Val) n.4216A>T c.2684A>T (p.Glu895Val) c.2174A>T (p.Glu725Val) c.*2630A>T (n.*2630A>T) c.4028A>T (p.Glu1343Val) c.4010A>T (p.Glu1337Val) | |
| 22 | g.50721865_50721868del | CA913190847 | SHANK3 | c.3633_3636del (p.Glu1211AspfsTer?) n.4217_4220del c.2685_2688del (p.Glu895AspfsTer?) c.2175_2178del (p.Glu725AspfsTer?) c.*2631_*2634del (n.*2631_*2634del) c.4029_4032del (p.Glu1343AspfsTer?) c.4011_4014del (p.Glu1337AspfsTer?) | ClinVar dbSNP |
| 22 | g.50721865G>A | CA515263738 | SHANK3 | c.3633G>A (p.Glu1211=) n.4217G>A c.2685G>A (p.Glu895=) c.2175G>A (p.Glu725=) c.*2631G>A (n.*2631G>A) c.4029G>A (p.Glu1343=) c.4011G>A (p.Glu1337=) | dbSNP gnomAD v4 |
| 22 | g.50721865G>C | CA515263739 | SHANK3 | c.3633G>C (p.Glu1211Asp) n.4217G>C c.2685G>C (p.Glu895Asp) c.2175G>C (p.Glu725Asp) c.*2631G>C (n.*2631G>C) c.4029G>C (p.Glu1343Asp) c.4011G>C (p.Glu1337Asp) | |
| 22 | g.50721865G= | CA2411008501 | SHANK3 | c.3633G= (p.Glu1211=) n.4217G= c.2685G= (p.Glu895=) c.2175G= (p.Glu725=) c.*2631G= (n.*2631G=) c.4029G= (p.Glu1343=) c.4011G= (p.Glu1337=) | |
| 22 | g.50721865G>T | CA515263740 | SHANK3 | c.3633G>T (p.Glu1211Asp) n.4217G>T c.2685G>T (p.Glu895Asp) c.2175G>T (p.Glu725Asp) c.*2631G>T (n.*2631G>T) c.4029G>T (p.Glu1343Asp) c.4011G>T (p.Glu1337Asp) | gnomAD v4 |
| 22 | g.50721866C>A | CA515263741 | SHANK3 | c.3634C>A (p.Pro1212Thr) n.4218C>A c.2686C>A (p.Pro896Thr) c.2176C>A (p.Pro726Thr) c.*2632C>A (n.*2632C>A) c.4030C>A (p.Pro1344Thr) c.4012C>A (p.Pro1338Thr) | gnomAD v4 |
| 22 | g.50721866C= | CA2411008502 | SHANK3 | c.3634C= (p.Pro1212=) n.4218C= c.2686C= (p.Pro896=) c.2176C= (p.Pro726=) c.*2632C= (n.*2632C=) c.4030C= (p.Pro1344=) c.4012C= (p.Pro1338=) | |
| 22 | g.50721866C>G | CA515263742 | SHANK3 | c.3634C>G (p.Pro1212Ala) n.4218C>G c.2686C>G (p.Pro896Ala) c.2176C>G (p.Pro726Ala) c.*2632C>G (n.*2632C>G) c.4030C>G (p.Pro1344Ala) c.4012C>G (p.Pro1338Ala) | |
| 22 | g.50721866C>T | CA515263743 | SHANK3 | c.3634C>T (p.Pro1212Ser) n.4218C>T c.2686C>T (p.Pro896Ser) c.2176C>T (p.Pro726Ser) c.*2632C>T (n.*2632C>T) c.4030C>T (p.Pro1344Ser) c.4012C>T (p.Pro1338Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721867C>A | CA515263744 | SHANK3 | c.3635C>A (p.Pro1212Gln) n.4219C>A c.2687C>A (p.Pro896Gln) c.2177C>A (p.Pro726Gln) c.*2633C>A (n.*2633C>A) c.4031C>A (p.Pro1344Gln) c.4013C>A (p.Pro1338Gln) | |
| 22 | g.50721867C= | CA2411008503 | SHANK3 | c.3635C= (p.Pro1212=) n.4219C= c.2687C= (p.Pro896=) c.2177C= (p.Pro726=) c.*2633C= (n.*2633C=) c.4031C= (p.Pro1344=) c.4013C= (p.Pro1338=) | |
| 22 | g.50721867C>G | CA515263745 | SHANK3 | c.3635C>G (p.Pro1212Arg) n.4219C>G c.2687C>G (p.Pro896Arg) c.2177C>G (p.Pro726Arg) c.*2633C>G (n.*2633C>G) c.4031C>G (p.Pro1344Arg) c.4013C>G (p.Pro1338Arg) | |
| 22 | g.50721867C>T | CA10326196 | SHANK3 | c.3635C>T (p.Pro1212Leu) n.4219C>T c.2687C>T (p.Pro896Leu) c.2177C>T (p.Pro726Leu) c.*2633C>T (n.*2633C>T) c.4031C>T (p.Pro1344Leu) c.4013C>T (p.Pro1338Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721868A>C | CA515263749 | SHANK3 | c.3636A>C (p.Pro1212=) n.4220A>C c.2688A>C (p.Pro896=) c.2178A>C (p.Pro726=) c.*2634A>C (n.*2634A>C) c.4032A>C (p.Pro1344=) c.4014A>C (p.Pro1338=) | dbSNP |
| 22 | g.50721868A>G | CA515263751 | SHANK3 | c.3636A>G (p.Pro1212=) n.4220A>G c.2688A>G (p.Pro896=) c.2178A>G (p.Pro726=) c.*2634A>G (n.*2634A>G) c.4032A>G (p.Pro1344=) c.4014A>G (p.Pro1338=) | |
| 22 | g.50721868A>T | CA515263750 | SHANK3 | c.3636A>T (p.Pro1212=) n.4220A>T c.2688A>T (p.Pro896=) c.2178A>T (p.Pro726=) c.*2634A>T (n.*2634A>T) c.4032A>T (p.Pro1344=) c.4014A>T (p.Pro1338=) | |
| 22 | g.50721869C>A | CA325579755 | SHANK3 | c.3637C>A (p.Pro1213Thr) n.4221C>A c.2689C>A (p.Pro897Thr) c.2179C>A (p.Pro727Thr) c.*2635C>A (n.*2635C>A) c.4033C>A (p.Pro1345Thr) c.4015C>A (p.Pro1339Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721869C= | CA2411008504 | SHANK3 | c.3637C= (p.Pro1213=) n.4221C= c.2689C= (p.Pro897=) c.2179C= (p.Pro727=) c.*2635C= (n.*2635C=) c.4033C= (p.Pro1345=) c.4015C= (p.Pro1339=) | |
| 22 | g.50721869C>G | CA515263752 | SHANK3 | c.3637C>G (p.Pro1213Ala) n.4221C>G c.2689C>G (p.Pro897Ala) c.2179C>G (p.Pro727Ala) c.*2635C>G (n.*2635C>G) c.4033C>G (p.Pro1345Ala) c.4015C>G (p.Pro1339Ala) | |
| 22 | g.50721869C>T | CA10326197 | SHANK3 | c.3637C>T (p.Pro1213Ser) n.4221C>T c.2689C>T (p.Pro897Ser) c.2179C>T (p.Pro727Ser) c.*2635C>T (n.*2635C>T) c.4033C>T (p.Pro1345Ser) c.4015C>T (p.Pro1339Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721873dup | CA2740092007 | SHANK3 | c.3641dup (p.Ala1215CysfsTer3) n.4225dup c.2693dup (p.Ala899CysfsTer3) c.2183dup (p.Ala729CysfsTer3) c.*2639dup (n.*2639dup) c.4037dup (p.Ala1347CysfsTer3) c.4019dup (p.Ala1341CysfsTer3) | ClinVar |
| 22 | g.50721873del | CA2657581370 | SHANK3 | c.3641del (p.Pro1214LeufsTer?) n.4225del c.2693del (p.Pro898LeufsTer?) c.2183del (p.Pro728LeufsTer?) c.*2639del (n.*2639del) c.4037del (p.Pro1346LeufsTer?) c.4019del (p.Pro1340LeufsTer?) | gnomAD v4 |
| 22 | g.50721870C>A | CA515263753 | SHANK3 | c.3638C>A (p.Pro1213His) n.4222C>A c.2690C>A (p.Pro897His) c.2180C>A (p.Pro727His) c.*2636C>A (n.*2636C>A) c.4034C>A (p.Pro1345His) c.4016C>A (p.Pro1339His) | gnomAD v4 |
| 22 | g.50721870C= | CA2411008505 | SHANK3 | c.3638C= (p.Pro1213=) n.4222C= c.2690C= (p.Pro897=) c.2180C= (p.Pro727=) c.*2636C= (n.*2636C=) c.4034C= (p.Pro1345=) c.4016C= (p.Pro1339=) | |
| 22 | g.50721870C>G | CA515263754 | SHANK3 | c.3638C>G (p.Pro1213Arg) n.4222C>G c.2690C>G (p.Pro897Arg) c.2180C>G (p.Pro727Arg) c.*2636C>G (n.*2636C>G) c.4034C>G (p.Pro1345Arg) c.4016C>G (p.Pro1339Arg) | |
| 22 | g.50721870C>T | CA515263755 | SHANK3 | c.3638C>T (p.Pro1213Leu) n.4222C>T c.2690C>T (p.Pro897Leu) c.2180C>T (p.Pro727Leu) c.*2636C>T (n.*2636C>T) c.4034C>T (p.Pro1345Leu) c.4016C>T (p.Pro1339Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721871C>A | CA515263756 | SHANK3 | c.3639C>A (p.Pro1213=) n.4223C>A c.2691C>A (p.Pro897=) c.2181C>A (p.Pro727=) c.*2637C>A (n.*2637C>A) c.4035C>A (p.Pro1345=) c.4017C>A (p.Pro1339=) | gnomAD v4 |
| 22 | g.50721871C= | CA2411008506 | SHANK3 | c.3639C= (p.Pro1213=) n.4223C= c.2691C= (p.Pro897=) c.2181C= (p.Pro727=) c.*2637C= (n.*2637C=) c.4035C= (p.Pro1345=) c.4017C= (p.Pro1339=) | |
| 22 | g.50721871C>G | CA515263758 | SHANK3 | c.3639C>G (p.Pro1213=) n.4223C>G c.2691C>G (p.Pro897=) c.2181C>G (p.Pro727=) c.*2637C>G (n.*2637C>G) c.4035C>G (p.Pro1345=) c.4017C>G (p.Pro1339=) | gnomAD v4 |
| 22 | g.50721871C>T | CA325579757 | SHANK3 | c.3639C>T (p.Pro1213=) n.4223C>T c.2691C>T (p.Pro897=) c.2181C>T (p.Pro727=) c.*2637C>T (n.*2637C>T) c.4035C>T (p.Pro1345=) c.4017C>T (p.Pro1339=) | dbSNP |
| 22 | g.50721872C>A | CA515263759 | SHANK3 | c.3640C>A (p.Pro1214Thr) n.4224C>A c.2692C>A (p.Pro898Thr) c.2182C>A (p.Pro728Thr) c.*2638C>A (n.*2638C>A) c.4036C>A (p.Pro1346Thr) c.4018C>A (p.Pro1340Thr) | gnomAD v4 |
| 22 | g.50721872C= | CA2411008507 | SHANK3 | c.3640C= (p.Pro1214=) n.4224C= c.2692C= (p.Pro898=) c.2182C= (p.Pro728=) c.*2638C= (n.*2638C=) c.4036C= (p.Pro1346=) c.4018C= (p.Pro1340=) | |
| 22 | g.50721872C>G | CA515263760 | SHANK3 | c.3640C>G (p.Pro1214Ala) n.4224C>G c.2692C>G (p.Pro898Ala) c.2182C>G (p.Pro728Ala) c.*2638C>G (n.*2638C>G) c.4036C>G (p.Pro1346Ala) c.4018C>G (p.Pro1340Ala) | COSMIC COSMIC |
| 22 | g.50721872C>T | CA515263761 | SHANK3 | c.3640C>T (p.Pro1214Ser) n.4224C>T c.2692C>T (p.Pro898Ser) c.2182C>T (p.Pro728Ser) c.*2638C>T (n.*2638C>T) c.4036C>T (p.Pro1346Ser) c.4018C>T (p.Pro1340Ser) | ClinVar dbSNP |
| 22 | g.50721873C>A | CA515263764 | SHANK3 | c.3641C>A (p.Pro1214His) n.4225C>A c.2693C>A (p.Pro898His) c.2183C>A (p.Pro728His) c.*2639C>A (n.*2639C>A) c.4037C>A (p.Pro1346His) c.4019C>A (p.Pro1340His) | gnomAD v4 |
| 22 | g.50721873C= | CA2411008508 | SHANK3 | c.3641C= (p.Pro1214=) n.4225C= c.2693C= (p.Pro898=) c.2183C= (p.Pro728=) c.*2639C= (n.*2639C=) c.4037C= (p.Pro1346=) c.4019C= (p.Pro1340=) | |
| 22 | g.50721873C>G | CA515263763 | SHANK3 | c.3641C>G (p.Pro1214Arg) n.4225C>G c.2693C>G (p.Pro898Arg) c.2183C>G (p.Pro728Arg) c.*2639C>G (n.*2639C>G) c.4037C>G (p.Pro1346Arg) c.4019C>G (p.Pro1340Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721873C>T | CA515263762 | SHANK3 | c.3641C>T (p.Pro1214Leu) n.4225C>T c.2693C>T (p.Pro898Leu) c.2183C>T (p.Pro728Leu) c.*2639C>T (n.*2639C>T) c.4037C>T (p.Pro1346Leu) c.4019C>T (p.Pro1340Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721874T>A | CA515263765 | SHANK3 | c.3642T>A (p.Pro1214=) n.4226T>A c.2694T>A (p.Pro898=) c.2184T>A (p.Pro728=) c.*2640T>A (n.*2640T>A) c.4038T>A (p.Pro1346=) c.4020T>A (p.Pro1340=) | |
| 22 | g.50721874T>C | CA515263766 | SHANK3 | c.3642T>C (p.Pro1214=) n.4226T>C c.2694T>C (p.Pro898=) c.2184T>C (p.Pro728=) c.*2640T>C (n.*2640T>C) c.4038T>C (p.Pro1346=) c.4020T>C (p.Pro1340=) | |
| 22 | g.50721874T>G | CA515263767 | SHANK3 | c.3642T>G (p.Pro1214=) n.4226T>G c.2694T>G (p.Pro898=) c.2184T>G (p.Pro728=) c.*2640T>G (n.*2640T>G) c.4038T>G (p.Pro1346=) c.4020T>G (p.Pro1340=) | |
| 22 | g.50721875G>A | CA515263768 | SHANK3 | c.3643G>A (p.Ala1215Thr) n.4227G>A c.2695G>A (p.Ala899Thr) c.2185G>A (p.Ala729Thr) c.*2641G>A (n.*2641G>A) c.4039G>A (p.Ala1347Thr) c.4021G>A (p.Ala1341Thr) | |
| 22 | g.50721875G>C | CA515263769 | SHANK3 | c.3643G>C (p.Ala1215Pro) n.4227G>C c.2695G>C (p.Ala899Pro) c.2185G>C (p.Ala729Pro) c.*2641G>C (n.*2641G>C) c.4039G>C (p.Ala1347Pro) c.4021G>C (p.Ala1341Pro) | |
| 22 | g.50721875G>T | CA515263770 | SHANK3 | c.3643G>T (p.Ala1215Ser) n.4227G>T c.2695G>T (p.Ala899Ser) c.2185G>T (p.Ala729Ser) c.*2641G>T (n.*2641G>T) c.4039G>T (p.Ala1347Ser) c.4021G>T (p.Ala1341Ser) | |
| 22 | g.50721876C>A | CA515263772 | SHANK3 | c.3644C>A (p.Ala1215Asp) n.4228C>A c.2696C>A (p.Ala899Asp) c.2186C>A (p.Ala729Asp) c.*2642C>A (n.*2642C>A) c.4040C>A (p.Ala1347Asp) c.4022C>A (p.Ala1341Asp) | gnomAD v4 |
| 22 | g.50721876C= | CA2411008509 | SHANK3 | c.3644C= (p.Ala1215=) n.4228C= c.2696C= (p.Ala899=) c.2186C= (p.Ala729=) c.*2642C= (n.*2642C=) c.4040C= (p.Ala1347=) c.4022C= (p.Ala1341=) | |
| 22 | g.50721876C>G | CA515263773 | SHANK3 | c.3644C>G (p.Ala1215Gly) n.4228C>G c.2696C>G (p.Ala899Gly) c.2186C>G (p.Ala729Gly) c.*2642C>G (n.*2642C>G) c.4040C>G (p.Ala1347Gly) c.4022C>G (p.Ala1341Gly) | ClinVar dbSNP |
| 22 | g.50721876C>T | CA10326198 | SHANK3 | c.3644C>T (p.Ala1215Val) n.4228C>T c.2696C>T (p.Ala899Val) c.2186C>T (p.Ala729Val) c.*2642C>T (n.*2642C>T) c.4040C>T (p.Ala1347Val) c.4022C>T (p.Ala1341Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721879dup | CA915940352 | SHANK3 | c.3647dup (p.Glu1217Ter) n.4231dup c.2699dup (p.Glu901Ter) c.2189dup (p.Glu731Ter) c.*2645dup (n.*2645dup) c.4043dup (p.Glu1349Ter) c.4025dup (p.Glu1343Ter) | |
| 22 | g.50721877C>A | CA515263774 | SHANK3 | c.3645C>A (p.Ala1215=) n.4229C>A c.2697C>A (p.Ala899=) c.2187C>A (p.Ala729=) c.*2643C>A (n.*2643C>A) c.4041C>A (p.Ala1347=) c.4023C>A (p.Ala1341=) | gnomAD v4 |
| 22 | g.50721877C= | CA2411008510 | SHANK3 | c.3645C= (p.Ala1215=) n.4229C= c.2697C= (p.Ala899=) c.2187C= (p.Ala729=) c.*2643C= (n.*2643C=) c.4041C= (p.Ala1347=) c.4023C= (p.Ala1341=) | |
| 22 | g.50721877C>G | CA515263775 | SHANK3 | c.3645C>G (p.Ala1215=) n.4229C>G c.2697C>G (p.Ala899=) c.2187C>G (p.Ala729=) c.*2643C>G (n.*2643C>G) c.4041C>G (p.Ala1347=) c.4023C>G (p.Ala1341=) | |
| 22 | g.50721877C>T | CA325579778 | SHANK3 | c.3645C>T (p.Ala1215=) n.4229C>T c.2697C>T (p.Ala899=) c.2187C>T (p.Ala729=) c.*2643C>T (n.*2643C>T) c.4041C>T (p.Ala1347=) c.4023C>T (p.Ala1341=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721878C>A | CA515263779 | SHANK3 | c.3646C>A (p.Pro1216Thr) n.4230C>A c.2698C>A (p.Pro900Thr) c.2188C>A (p.Pro730Thr) c.*2644C>A (n.*2644C>A) c.4042C>A (p.Pro1348Thr) c.4024C>A (p.Pro1342Thr) | gnomAD v4 |
| 22 | g.50721878C= | CA2411008511 | SHANK3 | c.3646C= (p.Pro1216=) n.4230C= c.2698C= (p.Pro900=) c.2188C= (p.Pro730=) c.*2644C= (n.*2644C=) c.4042C= (p.Pro1348=) c.4024C= (p.Pro1342=) | |
| 22 | g.50721878C>G | CA515263776 | SHANK3 | c.3646C>G (p.Pro1216Ala) n.4230C>G c.2698C>G (p.Pro900Ala) c.2188C>G (p.Pro730Ala) c.*2644C>G (n.*2644C>G) c.4042C>G (p.Pro1348Ala) c.4024C>G (p.Pro1342Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721878C>T | CA515263777 | SHANK3 | c.3646C>T (p.Pro1216Ser) n.4230C>T c.2698C>T (p.Pro900Ser) c.2188C>T (p.Pro730Ser) c.*2644C>T (n.*2644C>T) c.4042C>T (p.Pro1348Ser) c.4024C>T (p.Pro1342Ser) | |
| 22 | g.50721879C>A | CA515263780 | SHANK3 | c.3647C>A (p.Pro1216His) n.4231C>A c.2699C>A (p.Pro900His) c.2189C>A (p.Pro730His) c.*2645C>A (n.*2645C>A) c.4043C>A (p.Pro1348His) c.4025C>A (p.Pro1342His) | gnomAD v4 |
| 22 | g.50721879C= | CA2411008512 | SHANK3 | c.3647C= (p.Pro1216=) n.4231C= c.2699C= (p.Pro900=) c.2189C= (p.Pro730=) c.*2645C= (n.*2645C=) c.4043C= (p.Pro1348=) c.4025C= (p.Pro1342=) | |
| 22 | g.50721879C>G | CA515263781 | SHANK3 | c.3647C>G (p.Pro1216Arg) n.4231C>G c.2699C>G (p.Pro900Arg) c.2189C>G (p.Pro730Arg) c.*2645C>G (n.*2645C>G) c.4043C>G (p.Pro1348Arg) c.4025C>G (p.Pro1342Arg) | |
| 22 | g.50721879C>T | CA10326199 | SHANK3 | c.3647C>T (p.Pro1216Leu) n.4231C>T c.2699C>T (p.Pro900Leu) c.2189C>T (p.Pro730Leu) c.*2645C>T (n.*2645C>T) c.4043C>T (p.Pro1348Leu) c.4025C>T (p.Pro1342Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721880T>A | CA515263782 | SHANK3 | c.3648T>A (p.Pro1216=) n.4232T>A c.2700T>A (p.Pro900=) c.2190T>A (p.Pro730=) c.*2646T>A (n.*2646T>A) c.4044T>A (p.Pro1348=) c.4026T>A (p.Pro1342=) | gnomAD v4 |
| 22 | g.50721880T>C | CA515263783 | SHANK3 | c.3648T>C (p.Pro1216=) n.4232T>C c.2700T>C (p.Pro900=) c.2190T>C (p.Pro730=) c.*2646T>C (n.*2646T>C) c.4044T>C (p.Pro1348=) c.4026T>C (p.Pro1342=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721880T>G | CA515263784 | SHANK3 | c.3648T>G (p.Pro1216=) n.4232T>G c.2700T>G (p.Pro900=) c.2190T>G (p.Pro730=) c.*2646T>G (n.*2646T>G) c.4044T>G (p.Pro1348=) c.4026T>G (p.Pro1342=) | gnomAD v4 |
| 22 | g.50721880T= | CA2411008513 | SHANK3 | c.3648T= (p.Pro1216=) n.4232T= c.2700T= (p.Pro900=) c.2190T= (p.Pro730=) c.*2646T= (n.*2646T=) c.4044T= (p.Pro1348=) c.4026T= (p.Pro1342=) | |
| 22 | g.50721881G>A | CA515263787 | SHANK3 | c.3649G>A (p.Glu1217Lys) n.4233G>A c.2701G>A (p.Glu901Lys) c.2191G>A (p.Glu731Lys) c.*2647G>A (n.*2647G>A) c.4045G>A (p.Glu1349Lys) c.4027G>A (p.Glu1343Lys) | |
| 22 | g.50721881G>C | CA515263786 | SHANK3 | c.3649G>C (p.Glu1217Gln) n.4233G>C c.2701G>C (p.Glu901Gln) c.2191G>C (p.Glu731Gln) c.*2647G>C (n.*2647G>C) c.4045G>C (p.Glu1349Gln) c.4027G>C (p.Glu1343Gln) | |
| 22 | g.50721881G>T | CA515263785 | SHANK3 | c.3649G>T (p.Glu1217Ter) n.4233G>T c.2701G>T (p.Glu901Ter) c.2191G>T (p.Glu731Ter) c.*2647G>T (n.*2647G>T) c.4045G>T (p.Glu1349Ter) c.4027G>T (p.Glu1343Ter) | gnomAD v4 |
| 22 | g.50721882_50721883del | CA2573055037 | SHANK3 | c.3650_3651del (p.Glu1217ValfsTer11) n.4234_4235del c.2702_2703del (p.Glu901ValfsTer11) c.2192_2193del (p.Glu731ValfsTer11) c.*2648_*2649del (n.*2648_*2649del) c.4046_4047del (p.Glu1349ValfsTer11) c.4028_4029del (p.Glu1343ValfsTer11) | ClinVar dbSNP |
| 22 | g.50721882A>C | CA515263788 | SHANK3 | c.3650A>C (p.Glu1217Ala) n.4234A>C c.2702A>C (p.Glu901Ala) c.2192A>C (p.Glu731Ala) c.*2648A>C (n.*2648A>C) c.4046A>C (p.Glu1349Ala) c.4028A>C (p.Glu1343Ala) | gnomAD v4 |
| 22 | g.50721882A>G | CA515263790 | SHANK3 | c.3650A>G (p.Glu1217Gly) n.4234A>G c.2702A>G (p.Glu901Gly) c.2192A>G (p.Glu731Gly) c.*2648A>G (n.*2648A>G) c.4046A>G (p.Glu1349Gly) c.4028A>G (p.Glu1343Gly) | |
| 22 | g.50721882A>T | CA515263792 | SHANK3 | c.3650A>T (p.Glu1217Val) n.4234A>T c.2702A>T (p.Glu901Val) c.2192A>T (p.Glu731Val) c.*2648A>T (n.*2648A>T) c.4046A>T (p.Glu1349Val) c.4028A>T (p.Glu1343Val) | gnomAD v4 |
| 22 | g.50721883G>A | CA515263794 | SHANK3 | c.3651G>A (p.Glu1217=) n.4235G>A c.2703G>A (p.Glu901=) c.2193G>A (p.Glu731=) c.*2649G>A (n.*2649G>A) c.4047G>A (p.Glu1349=) c.4029G>A (p.Glu1343=) | gnomAD v4 |
| 22 | g.50721883G>C | CA515263795 | SHANK3 | c.3651G>C (p.Glu1217Asp) n.4235G>C c.2703G>C (p.Glu901Asp) c.2193G>C (p.Glu731Asp) c.*2649G>C (n.*2649G>C) c.4047G>C (p.Glu1349Asp) c.4029G>C (p.Glu1343Asp) | |
| 22 | g.50721883G>T | CA515263796 | SHANK3 | c.3651G>T (p.Glu1217Asp) n.4235G>T c.2703G>T (p.Glu901Asp) c.2193G>T (p.Glu731Asp) c.*2649G>T (n.*2649G>T) c.4047G>T (p.Glu1349Asp) c.4029G>T (p.Glu1343Asp) | gnomAD v4 |
| 22 | g.50721884T>A | CA515263797 | SHANK3 | c.3652T>A (p.Ser1218Thr) n.4236T>A c.2704T>A (p.Ser902Thr) c.2194T>A (p.Ser732Thr) c.*2650T>A (n.*2650T>A) c.4048T>A (p.Ser1350Thr) c.4030T>A (p.Ser1344Thr) | |
| 22 | g.50721884T>C | CA515263799 | SHANK3 | c.3652T>C (p.Ser1218Pro) n.4236T>C c.2704T>C (p.Ser902Pro) c.2194T>C (p.Ser732Pro) c.*2650T>C (n.*2650T>C) c.4048T>C (p.Ser1350Pro) c.4030T>C (p.Ser1344Pro) | |
| 22 | g.50721884T>G | CA515263798 | SHANK3 | c.3652T>G (p.Ser1218Ala) n.4236T>G c.2704T>G (p.Ser902Ala) c.2194T>G (p.Ser732Ala) c.*2650T>G (n.*2650T>G) c.4048T>G (p.Ser1350Ala) c.4030T>G (p.Ser1344Ala) | |
| 22 | g.50721885C>A | CA515263800 | SHANK3 | c.3653C>A (p.Ser1218Tyr) n.4237C>A c.2705C>A (p.Ser902Tyr) c.2195C>A (p.Ser732Tyr) c.*2651C>A (n.*2651C>A) c.4049C>A (p.Ser1350Tyr) c.4031C>A (p.Ser1344Tyr) | gnomAD v4 |
| 22 | g.50721885C= | CA2411008514 | SHANK3 | c.3653C= (p.Ser1218=) n.4237C= c.2705C= (p.Ser902=) c.2195C= (p.Ser732=) c.*2651C= (n.*2651C=) c.4049C= (p.Ser1350=) c.4031C= (p.Ser1344=) | |
| 22 | g.50721885C>G | CA515263801 | SHANK3 | c.3653C>G (p.Ser1218Cys) n.4237C>G c.2705C>G (p.Ser902Cys) c.2195C>G (p.Ser732Cys) c.*2651C>G (n.*2651C>G) c.4049C>G (p.Ser1350Cys) c.4031C>G (p.Ser1344Cys) | dbSNP gnomAD v4 |
| 22 | g.50721885C>T | CA515263802 | SHANK3 | c.3653C>T (p.Ser1218Phe) n.4237C>T c.2705C>T (p.Ser902Phe) c.2195C>T (p.Ser732Phe) c.*2651C>T (n.*2651C>T) c.4049C>T (p.Ser1350Phe) c.4031C>T (p.Ser1344Phe) | gnomAD v4 |
| 22 | g.50721886T>A | CA515263804 | SHANK3 | c.3654T>A (p.Ser1218=) n.4238T>A c.2706T>A (p.Ser902=) c.2196T>A (p.Ser732=) c.*2652T>A (n.*2652T>A) c.4050T>A (p.Ser1350=) c.4032T>A (p.Ser1344=) | |
| 22 | g.50721886T>C | CA515263806 | SHANK3 | c.3654T>C (p.Ser1218=) n.4238T>C c.2706T>C (p.Ser902=) c.2196T>C (p.Ser732=) c.*2652T>C (n.*2652T>C) c.4050T>C (p.Ser1350=) c.4032T>C (p.Ser1344=) | |
| 22 | g.50721886T>G | CA515263808 | SHANK3 | c.3654T>G (p.Ser1218=) n.4238T>G c.2706T>G (p.Ser902=) c.2196T>G (p.Ser732=) c.*2652T>G (n.*2652T>G) c.4050T>G (p.Ser1350=) c.4032T>G (p.Ser1344=) | |
| 22 | g.50721887G>A | CA515263809 | SHANK3 | c.3655G>A (p.Ala1219Thr) n.4239G>A c.2707G>A (p.Ala903Thr) c.2197G>A (p.Ala733Thr) c.*2653G>A (n.*2653G>A) c.4051G>A (p.Ala1351Thr) c.4033G>A (p.Ala1345Thr) | dbSNP gnomAD v4 |
| 22 | g.50721887G>C | CA515263810 | SHANK3 | c.3655G>C (p.Ala1219Pro) n.4239G>C c.2707G>C (p.Ala903Pro) c.2197G>C (p.Ala733Pro) c.*2653G>C (n.*2653G>C) c.4051G>C (p.Ala1351Pro) c.4033G>C (p.Ala1345Pro) | |
| 22 | g.50721887G= | CA2411008515 | SHANK3 | c.3655G= (p.Ala1219=) n.4239G= c.2707G= (p.Ala903=) c.2197G= (p.Ala733=) c.*2653G= (n.*2653G=) c.4051G= (p.Ala1351=) c.4033G= (p.Ala1345=) | |
| 22 | g.50721887G>T | CA515263811 | SHANK3 | c.3655G>T (p.Ala1219Ser) n.4239G>T c.2707G>T (p.Ala903Ser) c.2197G>T (p.Ala733Ser) c.*2653G>T (n.*2653G>T) c.4051G>T (p.Ala1351Ser) c.4033G>T (p.Ala1345Ser) | gnomAD v4 |
| 22 | g.50721888C>A | CA515263812 | SHANK3 | c.3656C>A (p.Ala1219Glu) n.4240C>A c.2708C>A (p.Ala903Glu) c.2198C>A (p.Ala733Glu) c.*2654C>A (n.*2654C>A) c.4052C>A (p.Ala1351Glu) c.4034C>A (p.Ala1345Glu) | |
| 22 | g.50721888C= | CA2411008516 | SHANK3 | c.3656C= (p.Ala1219=) n.4240C= c.2708C= (p.Ala903=) c.2198C= (p.Ala733=) c.*2654C= (n.*2654C=) c.4052C= (p.Ala1351=) c.4034C= (p.Ala1345=) | |
| 22 | g.50721888C>G | CA515263813 | SHANK3 | c.3656C>G (p.Ala1219Gly) n.4240C>G c.2708C>G (p.Ala903Gly) c.2198C>G (p.Ala733Gly) c.*2654C>G (n.*2654C>G) c.4052C>G (p.Ala1351Gly) c.4034C>G (p.Ala1345Gly) | |
| 22 | g.50721888C>T | CA515263814 | SHANK3 | c.3656C>T (p.Ala1219Val) n.4240C>T c.2708C>T (p.Ala903Val) c.2198C>T (p.Ala733Val) c.*2654C>T (n.*2654C>T) c.4052C>T (p.Ala1351Val) c.4034C>T (p.Ala1345Val) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 22 | g.50721888_50721889insGGTGG | CA2657581377 | SHANK3 | c.3656_3657insGGTGG (p.Ala1220ValfsTer?) n.4240_4241insGGTGG c.2708_2709insGGTGG (p.Ala904ValfsTer?) c.2198_2199insGGTGG (p.Ala734ValfsTer?) c.*2654_*2655insGGTGG (n.*2654_*2655insGGTGG) c.4052_4053insGGTGG (p.Ala1352ValfsTer?) c.4034_4035insGGTGG (p.Ala1346ValfsTer?) | gnomAD v4 |
| 22 | g.50721889A>C | CA515263815 | SHANK3 | c.3657A>C (p.Ala1219=) n.4241A>C c.2709A>C (p.Ala903=) c.2199A>C (p.Ala733=) c.*2655A>C (n.*2655A>C) c.4053A>C (p.Ala1351=) c.4035A>C (p.Ala1345=) | |
| 22 | g.50721889A>G | CA515263817 | SHANK3 | c.3657A>G (p.Ala1219=) n.4241A>G c.2709A>G (p.Ala903=) c.2199A>G (p.Ala733=) c.*2655A>G (n.*2655A>G) c.4053A>G (p.Ala1351=) c.4035A>G (p.Ala1345=) | gnomAD v4 |
| 22 | g.50721889A>T | CA515263816 | SHANK3 | c.3657A>T (p.Ala1219=) n.4241A>T c.2709A>T (p.Ala903=) c.2199A>T (p.Ala733=) c.*2655A>T (n.*2655A>T) c.4053A>T (p.Ala1351=) c.4035A>T (p.Ala1345=) | |
| 22 | g.50721890G>A | CA515263819 | SHANK3 | c.3658G>A (p.Ala1220Thr) n.4242G>A c.2710G>A (p.Ala904Thr) c.2200G>A (p.Ala734Thr) c.*2656G>A (n.*2656G>A) c.4054G>A (p.Ala1352Thr) c.4036G>A (p.Ala1346Thr) | |
| 22 | g.50721890G>C | CA515263821 | SHANK3 | c.3658G>C (p.Ala1220Pro) n.4242G>C c.2710G>C (p.Ala904Pro) c.2200G>C (p.Ala734Pro) c.*2656G>C (n.*2656G>C) c.4054G>C (p.Ala1352Pro) c.4036G>C (p.Ala1346Pro) | dbSNP gnomAD v4 |
| 22 | g.50721890G= | CA2411008517 | SHANK3 | c.3658G= (p.Ala1220=) n.4242G= c.2710G= (p.Ala904=) c.2200G= (p.Ala734=) c.*2656G= (n.*2656G=) c.4054G= (p.Ala1352=) c.4036G= (p.Ala1346=) | |
| 22 | g.50721890G>T | CA515263822 | SHANK3 | c.3658G>T (p.Ala1220Ser) n.4242G>T c.2710G>T (p.Ala904Ser) c.2200G>T (p.Ala734Ser) c.*2656G>T (n.*2656G>T) c.4054G>T (p.Ala1352Ser) c.4036G>T (p.Ala1346Ser) | |
| 22 | g.50721891C>A | CA515263823 | SHANK3 | c.3659C>A (p.Ala1220Asp) n.4243C>A c.2711C>A (p.Ala904Asp) c.2201C>A (p.Ala734Asp) c.*2657C>A (n.*2657C>A) c.4055C>A (p.Ala1352Asp) c.4037C>A (p.Ala1346Asp) | gnomAD v4 |
| 22 | g.50721891C= | CA2411008518 | SHANK3 | c.3659C= (p.Ala1220=) n.4243C= c.2711C= (p.Ala904=) c.2201C= (p.Ala734=) c.*2657C= (n.*2657C=) c.4055C= (p.Ala1352=) c.4037C= (p.Ala1346=) | |
| 22 | g.50721891C>G | CA515263824 | SHANK3 | c.3659C>G (p.Ala1220Gly) n.4243C>G c.2711C>G (p.Ala904Gly) c.2201C>G (p.Ala734Gly) c.*2657C>G (n.*2657C>G) c.4055C>G (p.Ala1352Gly) c.4037C>G (p.Ala1346Gly) | |
| 22 | g.50721891C>T | CA515263825 | SHANK3 | c.3659C>T (p.Ala1220Val) n.4243C>T c.2711C>T (p.Ala904Val) c.2201C>T (p.Ala734Val) c.*2657C>T (n.*2657C>T) c.4055C>T (p.Ala1352Val) c.4037C>T (p.Ala1346Val) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721891_50721892del | CA2657581378 | SHANK3 | c.3659_3660del (p.Ala1220GlyfsTer8) n.4243_4244del c.2711_2712del (p.Ala904GlyfsTer8) c.2201_2202del (p.Ala734GlyfsTer8) c.*2657_*2658del (n.*2657_*2658del) c.4055_4056del (p.Ala1352GlyfsTer8) c.4037_4038del (p.Ala1346GlyfsTer8) | gnomAD v4 |
| 22 | g.50721892C>A | CA515263826 | SHANK3 | c.3660C>A (p.Ala1220=) n.4244C>A c.2712C>A (p.Ala904=) c.2202C>A (p.Ala734=) c.*2658C>A (n.*2658C>A) c.4056C>A (p.Ala1352=) c.4038C>A (p.Ala1346=) | gnomAD v4 |
| 22 | g.50721892C= | CA2411008519 | SHANK3 | c.3660C= (p.Ala1220=) n.4244C= c.2712C= (p.Ala904=) c.2202C= (p.Ala734=) c.*2658C= (n.*2658C=) c.4056C= (p.Ala1352=) c.4038C= (p.Ala1346=) | |
| 22 | g.50721892C>G | CA515263827 | SHANK3 | c.3660C>G (p.Ala1220=) n.4244C>G c.2712C>G (p.Ala904=) c.2202C>G (p.Ala734=) c.*2658C>G (n.*2658C>G) c.4056C>G (p.Ala1352=) c.4038C>G (p.Ala1346=) | gnomAD v4 |
| 22 | g.50721892C>T | CA10326200 | SHANK3 | c.3660C>T (p.Ala1220=) n.4244C>T c.2712C>T (p.Ala904=) c.2202C>T (p.Ala734=) c.*2658C>T (n.*2658C>T) c.4056C>T (p.Ala1352=) c.4038C>T (p.Ala1346=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721893G>A | CA515263828 | SHANK3 | c.3661G>A (p.Asp1221Asn) n.4245G>A c.2713G>A (p.Asp905Asn) c.2203G>A (p.Asp735Asn) c.*2659G>A (n.*2659G>A) c.4057G>A (p.Asp1353Asn) c.4039G>A (p.Asp1347Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721893G>C | CA515263829 | SHANK3 | c.3661G>C (p.Asp1221His) n.4245G>C c.2713G>C (p.Asp905His) c.2203G>C (p.Asp735His) c.*2659G>C (n.*2659G>C) c.4057G>C (p.Asp1353His) c.4039G>C (p.Asp1347His) | |
| 22 | g.50721893G= | CA2411008520 | SHANK3 | c.3661G= (p.Asp1221=) n.4245G= c.2713G= (p.Asp905=) c.2203G= (p.Asp735=) c.*2659G= (n.*2659G=) c.4057G= (p.Asp1353=) c.4039G= (p.Asp1347=) | |
| 22 | g.50721893G>T | CA515263831 | SHANK3 | c.3661G>T (p.Asp1221Tyr) n.4245G>T c.2713G>T (p.Asp905Tyr) c.2203G>T (p.Asp735Tyr) c.*2659G>T (n.*2659G>T) c.4057G>T (p.Asp1353Tyr) c.4039G>T (p.Asp1347Tyr) | |
| 22 | g.50721894A>C | CA515263836 | SHANK3 | c.3662A>C (p.Asp1221Ala) n.4246A>C c.2714A>C (p.Asp905Ala) c.2204A>C (p.Asp735Ala) c.*2660A>C (n.*2660A>C) c.4058A>C (p.Asp1353Ala) c.4040A>C (p.Asp1347Ala) | |
| 22 | g.50721894A>G | CA515263834 | SHANK3 | c.3662A>G (p.Asp1221Gly) n.4246A>G c.2714A>G (p.Asp905Gly) c.2204A>G (p.Asp735Gly) c.*2660A>G (n.*2660A>G) c.4058A>G (p.Asp1353Gly) c.4040A>G (p.Asp1347Gly) | |
| 22 | g.50721894A>T | CA515263832 | SHANK3 | c.3662A>T (p.Asp1221Val) n.4246A>T c.2714A>T (p.Asp905Val) c.2204A>T (p.Asp735Val) c.*2660A>T (n.*2660A>T) c.4058A>T (p.Asp1353Val) c.4040A>T (p.Asp1347Val) | |
| 22 | g.50721895C>A | CA515263837 | SHANK3 | c.3663C>A (p.Asp1221Glu) n.4247C>A c.2715C>A (p.Asp905Glu) c.2205C>A (p.Asp735Glu) c.*2661C>A (n.*2661C>A) c.4059C>A (p.Asp1353Glu) c.4041C>A (p.Asp1347Glu) | |
| 22 | g.50721895C= | CA2411008521 | SHANK3 | c.3663C= (p.Asp1221=) n.4247C= c.2715C= (p.Asp905=) c.2205C= (p.Asp735=) c.*2661C= (n.*2661C=) c.4059C= (p.Asp1353=) c.4041C= (p.Asp1347=) | |
| 22 | g.50721895C>G | CA515263838 | SHANK3 | c.3663C>G (p.Asp1221Glu) n.4247C>G c.2715C>G (p.Asp905Glu) c.2205C>G (p.Asp735Glu) c.*2661C>G (n.*2661C>G) c.4059C>G (p.Asp1353Glu) c.4041C>G (p.Asp1347Glu) | |
| 22 | g.50721895C>T | CA10326201 | SHANK3 | c.3663C>T (p.Asp1221=) n.4247C>T c.2715C>T (p.Asp905=) c.2205C>T (p.Asp735=) c.*2661C>T (n.*2661C>T) c.4059C>T (p.Asp1353=) c.4041C>T (p.Asp1347=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721896T>A | CA515263839 | SHANK3 | c.3664T>A (p.Ser1222Thr) n.4248T>A c.2716T>A (p.Ser906Thr) c.2206T>A (p.Ser736Thr) c.*2662T>A (n.*2662T>A) c.4060T>A (p.Ser1354Thr) c.4042T>A (p.Ser1348Thr) | |
| 22 | g.50721896T>C | CA515263840 | SHANK3 | c.3664T>C (p.Ser1222Pro) n.4248T>C c.2716T>C (p.Ser906Pro) c.2206T>C (p.Ser736Pro) c.*2662T>C (n.*2662T>C) c.4060T>C (p.Ser1354Pro) c.4042T>C (p.Ser1348Pro) | gnomAD v4 |
| 22 | g.50721896T>G | CA515263842 | SHANK3 | c.3664T>G (p.Ser1222Ala) n.4248T>G c.2716T>G (p.Ser906Ala) c.2206T>G (p.Ser736Ala) c.*2662T>G (n.*2662T>G) c.4060T>G (p.Ser1354Ala) c.4042T>G (p.Ser1348Ala) | |
| 22 | g.50721897C>A | CA515263843 | SHANK3 | c.3665C>A (p.Ser1222Tyr) n.4249C>A c.2717C>A (p.Ser906Tyr) c.2207C>A (p.Ser736Tyr) c.*2663C>A (n.*2663C>A) c.4061C>A (p.Ser1354Tyr) c.4043C>A (p.Ser1348Tyr) | gnomAD v4 |
| 22 | g.50721897C>G | CA515263844 | SHANK3 | c.3665C>G (p.Ser1222Cys) n.4249C>G c.2717C>G (p.Ser906Cys) c.2207C>G (p.Ser736Cys) c.*2663C>G (n.*2663C>G) c.4061C>G (p.Ser1354Cys) c.4043C>G (p.Ser1348Cys) | |
| 22 | g.50721897C>T | CA515263845 | SHANK3 | c.3665C>T (p.Ser1222Phe) n.4249C>T c.2717C>T (p.Ser906Phe) c.2207C>T (p.Ser736Phe) c.*2663C>T (n.*2663C>T) c.4061C>T (p.Ser1354Phe) c.4043C>T (p.Ser1348Phe) | |
| 22 | g.50721897_50721899delinsCTG | CA2411008522 | SHANK3 | c.3665_3667delinsCTG (p.Ser1222=) n.4249_4251delinsCTG c.2717_2719delinsCTG (p.Ser906=) c.2207_2209delinsCTG (p.Ser736=) c.*2663_*2665delinsCTG (n.*2663_*2665delinsCTG) c.4061_4063delinsCTG (p.Ser1354=) c.4043_4045delinsCTG (p.Ser1348=) | |
| 22 | g.50721898T>A | CA515263846 | SHANK3 | c.3666T>A (p.Ser1222=) n.4250T>A c.2718T>A (p.Ser906=) c.2208T>A (p.Ser736=) c.*2664T>A (n.*2664T>A) c.4062T>A (p.Ser1354=) c.4044T>A (p.Ser1348=) | |
| 22 | g.50721898T>C | CA515263847 | SHANK3 | c.3666T>C (p.Ser1222=) n.4250T>C c.2718T>C (p.Ser906=) c.2208T>C (p.Ser736=) c.*2664T>C (n.*2664T>C) c.4062T>C (p.Ser1354=) c.4044T>C (p.Ser1348=) | |
| 22 | g.50721898T>G | CA325579793 | SHANK3 | c.3666T>G (p.Ser1222=) n.4250T>G c.2718T>G (p.Ser906=) c.2208T>G (p.Ser736=) c.*2664T>G (n.*2664T>G) c.4062T>G (p.Ser1354=) c.4044T>G (p.Ser1348=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721898T= | CA2411008523 | SHANK3 | c.3666T= (p.Ser1222=) n.4250T= c.2718T= (p.Ser906=) c.2208T= (p.Ser736=) c.*2664T= (n.*2664T=) c.4062T= (p.Ser1354=) c.4044T= (p.Ser1348=) | |
| 22 | g.50721898_50721899del | CA1139667210 | SHANK3 | c.3666_3667del (p.Val1224GlyfsTer4) n.4250_4251del c.2718_2719del (p.Val908GlyfsTer4) c.2208_2209del (p.Val738GlyfsTer4) c.*2664_*2665del (n.*2664_*2665del) c.4062_4063del (p.Val1356GlyfsTer4) c.4044_4045del (p.Val1350GlyfsTer4) | ClinVar dbSNP |
| 22 | g.50721899G>A | CA515263848 | SHANK3 | c.3667G>A (p.Gly1223Arg) n.4251G>A c.2719G>A (p.Gly907Arg) c.2209G>A (p.Gly737Arg) c.*2665G>A (n.*2665G>A) c.4063G>A (p.Gly1355Arg) c.4045G>A (p.Gly1349Arg) | gnomAD v4 |
| 22 | g.50721899G>C | CA515263850 | SHANK3 | c.3667G>C (p.Gly1223Arg) n.4251G>C c.2719G>C (p.Gly907Arg) c.2209G>C (p.Gly737Arg) c.*2665G>C (n.*2665G>C) c.4063G>C (p.Gly1355Arg) c.4045G>C (p.Gly1349Arg) | |
| 22 | g.50721899G>T | CA515263849 | SHANK3 | c.3667G>T (p.Gly1223Trp) n.4251G>T c.2719G>T (p.Gly907Trp) c.2209G>T (p.Gly737Trp) c.*2665G>T (n.*2665G>T) c.4063G>T (p.Gly1355Trp) c.4045G>T (p.Gly1349Trp) | gnomAD v4 |
| 22 | g.50721902del | CA2657581379 | SHANK3 | c.3670del (p.Val1224TrpfsTer29) n.4254del c.2722del (p.Val908TrpfsTer29) c.2212del (p.Val738TrpfsTer29) c.*2668del (n.*2668del) c.4066del (p.Val1356TrpfsTer29) c.4048del (p.Val1350TrpfsTer29) | gnomAD v4 |
| 22 | g.50721900G>A | CA515263851 | SHANK3 | c.3668G>A (p.Gly1223Glu) n.4252G>A c.2720G>A (p.Gly907Glu) c.2210G>A (p.Gly737Glu) c.*2666G>A (n.*2666G>A) c.4064G>A (p.Gly1355Glu) c.4046G>A (p.Gly1349Glu) | gnomAD v4 |
| 22 | g.50721900G>C | CA515263853 | SHANK3 | c.3668G>C (p.Gly1223Ala) n.4252G>C c.2720G>C (p.Gly907Ala) c.2210G>C (p.Gly737Ala) c.*2666G>C (n.*2666G>C) c.4064G>C (p.Gly1355Ala) c.4046G>C (p.Gly1349Ala) | |
| 22 | g.50721900G>T | CA515263852 | SHANK3 | c.3668G>T (p.Gly1223Val) n.4252G>T c.2720G>T (p.Gly907Val) c.2210G>T (p.Gly737Val) c.*2666G>T (n.*2666G>T) c.4064G>T (p.Gly1355Val) c.4046G>T (p.Gly1349Val) | |
| 22 | g.50721901G>A | CA515263854 | SHANK3 | c.3669G>A (p.Gly1223=) n.4253G>A c.2721G>A (p.Gly907=) c.2211G>A (p.Gly737=) c.*2667G>A (n.*2667G>A) c.4065G>A (p.Gly1355=) c.4047G>A (p.Gly1349=) | |
| 22 | g.50721901G>C | CA515263855 | SHANK3 | c.3669G>C (p.Gly1223=) n.4253G>C c.2721G>C (p.Gly907=) c.2211G>C (p.Gly737=) c.*2667G>C (n.*2667G>C) c.4065G>C (p.Gly1355=) c.4047G>C (p.Gly1349=) | gnomAD v4 |
| 22 | g.50721901G>T | CA515263859 | SHANK3 | c.3669G>T (p.Gly1223=) n.4253G>T c.2721G>T (p.Gly907=) c.2211G>T (p.Gly737=) c.*2667G>T (n.*2667G>T) c.4065G>T (p.Gly1355=) c.4047G>T (p.Gly1349=) | gnomAD v4 |
| 22 | g.50721902G>A | CA515263860 | SHANK3 | c.3670G>A (p.Val1224Met) n.4254G>A c.2722G>A (p.Val908Met) c.2212G>A (p.Val738Met) c.*2668G>A (n.*2668G>A) c.4066G>A (p.Val1356Met) c.4048G>A (p.Val1350Met) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721902G>C | CA515263861 | SHANK3 | c.3670G>C (p.Val1224Leu) n.4254G>C c.2722G>C (p.Val908Leu) c.2212G>C (p.Val738Leu) c.*2668G>C (n.*2668G>C) c.4066G>C (p.Val1356Leu) c.4048G>C (p.Val1350Leu) | |
| 22 | g.50721902G= | CA2411008524 | SHANK3 | c.3670G= (p.Val1224=) n.4254G= c.2722G= (p.Val908=) c.2212G= (p.Val738=) c.*2668G= (n.*2668G=) c.4066G= (p.Val1356=) c.4048G= (p.Val1350=) | |
| 22 | g.50721902G>T | CA515263862 | SHANK3 | c.3670G>T (p.Val1224Leu) n.4254G>T c.2722G>T (p.Val908Leu) c.2212G>T (p.Val738Leu) c.*2668G>T (n.*2668G>T) c.4066G>T (p.Val1356Leu) c.4048G>T (p.Val1350Leu) | gnomAD v4 |
| 22 | g.50721903T>A | CA515263865 | SHANK3 | c.3671T>A (p.Val1224Glu) n.4255T>A c.2723T>A (p.Val908Glu) c.2213T>A (p.Val738Glu) c.*2669T>A (n.*2669T>A) c.4067T>A (p.Val1356Glu) c.4049T>A (p.Val1350Glu) | |
| 22 | g.50721903T>C | CA515263864 | SHANK3 | c.3671T>C (p.Val1224Ala) n.4255T>C c.2723T>C (p.Val908Ala) c.2213T>C (p.Val738Ala) c.*2669T>C (n.*2669T>C) c.4067T>C (p.Val1356Ala) c.4049T>C (p.Val1350Ala) | |
| 22 | g.50721903T>G | CA515263863 | SHANK3 | c.3671T>G (p.Val1224Gly) n.4255T>G c.2723T>G (p.Val908Gly) c.2213T>G (p.Val738Gly) c.*2669T>G (n.*2669T>G) c.4067T>G (p.Val1356Gly) c.4049T>G (p.Val1350Gly) | |
| 22 | g.50721903_50721906delinsTGGA | CA2411008525 | SHANK3 | c.3671_3674delinsTGGA (p.Val1224=) n.4255_4258delinsTGGA c.2723_2726delinsTGGA (p.Val908=) c.2213_2216delinsTGGA (p.Val738=) c.*2669_*2672delinsTGGA (n.*2669_*2672delinsTGGA) c.4067_4070delinsTGGA (p.Val1356=) c.4049_4052delinsTGGA (p.Val1350=) | |
| 22 | g.50721904G>A | CA515263867 | SHANK3 | c.3672G>A (p.Val1224=) n.4256G>A c.2724G>A (p.Val908=) c.2214G>A (p.Val738=) c.*2670G>A (n.*2670G>A) c.4068G>A (p.Val1356=) c.4050G>A (p.Val1350=) | dbSNP gnomAD v4 |
| 22 | g.50721904G>C | CA515263868 | SHANK3 | c.3672G>C (p.Val1224=) n.4256G>C c.2724G>C (p.Val908=) c.2214G>C (p.Val738=) c.*2670G>C (n.*2670G>C) c.4068G>C (p.Val1356=) c.4050G>C (p.Val1350=) | |
| 22 | g.50721904G= | CA2411008526 | SHANK3 | c.3672G= (p.Val1224=) n.4256G= c.2724G= (p.Val908=) c.2214G= (p.Val738=) c.*2670G= (n.*2670G=) c.4068G= (p.Val1356=) c.4050G= (p.Val1350=) | |
| 22 | g.50721904G>T | CA515263869 | SHANK3 | c.3672G>T (p.Val1224=) n.4256G>T c.2724G>T (p.Val908=) c.2214G>T (p.Val738=) c.*2670G>T (n.*2670G>T) c.4068G>T (p.Val1356=) c.4050G>T (p.Val1350=) | |
| 22 | g.50721909_50721911del | CA640359042 | SHANK3 | c.3677_3679del (p.Glu1226del) n.4261_4263del c.2729_2731del (p.Glu910del) c.2219_2221del (p.Glu740del) c.*2675_*2677del (n.*2675_*2677del) c.4073_4075del (p.Glu1358del) c.4055_4057del (p.Glu1352del) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721905G>A | CA515263870 | SHANK3 | c.3673G>A (p.Glu1225Lys) n.4257G>A c.2725G>A (p.Glu909Lys) c.2215G>A (p.Glu739Lys) c.*2671G>A (n.*2671G>A) c.4069G>A (p.Glu1357Lys) c.4051G>A (p.Glu1351Lys) | dbSNP gnomAD v4 COSMIC COSMIC |
| 22 | g.50721905G>C | CA515263871 | SHANK3 | c.3673G>C (p.Glu1225Gln) n.4257G>C c.2725G>C (p.Glu909Gln) c.2215G>C (p.Glu739Gln) c.*2671G>C (n.*2671G>C) c.4069G>C (p.Glu1357Gln) c.4051G>C (p.Glu1351Gln) | |
| 22 | g.50721905G= | CA2411008527 | SHANK3 | c.3673G= (p.Glu1225=) n.4257G= c.2725G= (p.Glu909=) c.2215G= (p.Glu739=) c.*2671G= (n.*2671G=) c.4069G= (p.Glu1357=) c.4051G= (p.Glu1351=) | |
| 22 | g.50721905G>T | CA515263872 | SHANK3 | c.3673G>T (p.Glu1225Ter) n.4257G>T c.2725G>T (p.Glu909Ter) c.2215G>T (p.Glu739Ter) c.*2671G>T (n.*2671G>T) c.4069G>T (p.Glu1357Ter) c.4051G>T (p.Glu1351Ter) | |
| 22 | g.50721906A>C | CA515263874 | SHANK3 | c.3674A>C (p.Glu1225Ala) n.4258A>C c.2726A>C (p.Glu909Ala) c.2216A>C (p.Glu739Ala) c.*2672A>C (n.*2672A>C) c.4070A>C (p.Glu1357Ala) c.4052A>C (p.Glu1351Ala) | |
| 22 | g.50721906A>G | CA515263877 | SHANK3 | c.3674A>G (p.Glu1225Gly) n.4258A>G c.2726A>G (p.Glu909Gly) c.2216A>G (p.Glu739Gly) c.*2672A>G (n.*2672A>G) c.4070A>G (p.Glu1357Gly) c.4052A>G (p.Glu1351Gly) | |
| 22 | g.50721906A>T | CA515263875 | SHANK3 | c.3674A>T (p.Glu1225Val) n.4258A>T c.2726A>T (p.Glu909Val) c.2216A>T (p.Glu739Val) c.*2672A>T (n.*2672A>T) c.4070A>T (p.Glu1357Val) c.4052A>T (p.Glu1351Val) | |
| 22 | g.50721907G>A | CA515263878 | SHANK3 | c.3675G>A (p.Glu1225=) n.4259G>A c.2727G>A (p.Glu909=) c.2217G>A (p.Glu739=) c.*2673G>A (n.*2673G>A) c.4071G>A (p.Glu1357=) c.4053G>A (p.Glu1351=) | |
| 22 | g.50721907G>C | CA515263879 | SHANK3 | c.3675G>C (p.Glu1225Asp) n.4259G>C c.2727G>C (p.Glu909Asp) c.2217G>C (p.Glu739Asp) c.*2673G>C (n.*2673G>C) c.4071G>C (p.Glu1357Asp) c.4053G>C (p.Glu1351Asp) | |
| 22 | g.50721907G>T | CA515263880 | SHANK3 | c.3675G>T (p.Glu1225Asp) n.4259G>T c.2727G>T (p.Glu909Asp) c.2217G>T (p.Glu739Asp) c.*2673G>T (n.*2673G>T) c.4071G>T (p.Glu1357Asp) c.4053G>T (p.Glu1351Asp) | |
| 22 | g.50721908G>A | CA10326202 | SHANK3 | c.3676G>A (p.Glu1226Lys) n.4260G>A c.2728G>A (p.Glu910Lys) c.2218G>A (p.Glu740Lys) c.*2674G>A (n.*2674G>A) c.4072G>A (p.Glu1358Lys) c.4054G>A (p.Glu1352Lys) | dbSNP ExAC gnomAD v2 |
| 22 | g.50721908G>C | CA515263881 | SHANK3 | c.3676G>C (p.Glu1226Gln) n.4260G>C c.2728G>C (p.Glu910Gln) c.2218G>C (p.Glu740Gln) c.*2674G>C (n.*2674G>C) c.4072G>C (p.Glu1358Gln) c.4054G>C (p.Glu1352Gln) | |
| 22 | g.50721908G= | CA2411008528 | SHANK3 | c.3676G= (p.Glu1226=) n.4260G= c.2728G= (p.Glu910=) c.2218G= (p.Glu740=) c.*2674G= (n.*2674G=) c.4072G= (p.Glu1358=) c.4054G= (p.Glu1352=) | |
| 22 | g.50721908G>T | CA515263882 | SHANK3 | c.3676G>T (p.Glu1226Ter) n.4260G>T c.2728G>T (p.Glu910Ter) c.2218G>T (p.Glu740Ter) c.*2674G>T (n.*2674G>T) c.4072G>T (p.Glu1358Ter) c.4054G>T (p.Glu1352Ter) | |
| 22 | g.50721909A>C | CA515263883 | SHANK3 | c.3677A>C (p.Glu1226Ala) n.4261A>C c.2729A>C (p.Glu910Ala) c.2219A>C (p.Glu740Ala) c.*2675A>C (n.*2675A>C) c.4073A>C (p.Glu1358Ala) c.4055A>C (p.Glu1352Ala) | gnomAD v4 |
| 22 | g.50721909A>G | CA515263885 | SHANK3 | c.3677A>G (p.Glu1226Gly) n.4261A>G c.2729A>G (p.Glu910Gly) c.2219A>G (p.Glu740Gly) c.*2675A>G (n.*2675A>G) c.4073A>G (p.Glu1358Gly) c.4055A>G (p.Glu1352Gly) | |
| 22 | g.50721909A>T | CA515263887 | SHANK3 | c.3677A>T (p.Glu1226Val) n.4261A>T c.2729A>T (p.Glu910Val) c.2219A>T (p.Glu740Val) c.*2675A>T (n.*2675A>T) c.4073A>T (p.Glu1358Val) c.4055A>T (p.Glu1352Val) | |
| 22 | g.50721910G>A | CA10326203 | SHANK3 | c.3678G>A (p.Glu1226=) n.4262G>A c.2730G>A (p.Glu910=) c.2220G>A (p.Glu740=) c.*2676G>A (n.*2676G>A) c.4074G>A (p.Glu1358=) c.4056G>A (p.Glu1352=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721910G>C | CA515263889 | SHANK3 | c.3678G>C (p.Glu1226Asp) n.4262G>C c.2730G>C (p.Glu910Asp) c.2220G>C (p.Glu740Asp) c.*2676G>C (n.*2676G>C) c.4074G>C (p.Glu1358Asp) c.4056G>C (p.Glu1352Asp) | |
| 22 | g.50721910G= | CA2411008529 | SHANK3 | c.3678G= (p.Glu1226=) n.4262G= c.2730G= (p.Glu910=) c.2220G= (p.Glu740=) c.*2676G= (n.*2676G=) c.4074G= (p.Glu1358=) c.4056G= (p.Glu1352=) | |
| 22 | g.50721910G>T | CA515263890 | SHANK3 | c.3678G>T (p.Glu1226Asp) n.4262G>T c.2730G>T (p.Glu910Asp) c.2220G>T (p.Glu740Asp) c.*2676G>T (n.*2676G>T) c.4074G>T (p.Glu1358Asp) c.4056G>T (p.Glu1352Asp) | |
| 22 | g.50721911G>A | CA515263891 | SHANK3 | c.3679G>A (p.Ala1227Thr) n.4263G>A c.2731G>A (p.Ala911Thr) c.2221G>A (p.Ala741Thr) c.*2677G>A (n.*2677G>A) c.4075G>A (p.Ala1359Thr) c.4057G>A (p.Ala1353Thr) | gnomAD v4 |
| 22 | g.50721911G>C | CA515263893 | SHANK3 | c.3679G>C (p.Ala1227Pro) n.4263G>C c.2731G>C (p.Ala911Pro) c.2221G>C (p.Ala741Pro) c.*2677G>C (n.*2677G>C) c.4075G>C (p.Ala1359Pro) c.4057G>C (p.Ala1353Pro) | |
| 22 | g.50721911G>T | CA515263892 | SHANK3 | c.3679G>T (p.Ala1227Ser) n.4263G>T c.2731G>T (p.Ala911Ser) c.2221G>T (p.Ala741Ser) c.*2677G>T (n.*2677G>T) c.4075G>T (p.Ala1359Ser) c.4057G>T (p.Ala1353Ser) | gnomAD v4 |
| 22 | g.50721912C>A | CA515263894 | SHANK3 | c.3680C>A (p.Ala1227Asp) n.4264C>A c.2732C>A (p.Ala911Asp) c.2222C>A (p.Ala741Asp) c.*2678C>A (n.*2678C>A) c.4076C>A (p.Ala1359Asp) c.4058C>A (p.Ala1353Asp) | |
| 22 | g.50721912C= | CA2411008530 | SHANK3 | c.3680C= (p.Ala1227=) n.4264C= c.2732C= (p.Ala911=) c.2222C= (p.Ala741=) c.*2678C= (n.*2678C=) c.4076C= (p.Ala1359=) c.4058C= (p.Ala1353=) | |
| 22 | g.50721912C>G | CA515263895 | SHANK3 | c.3680C>G (p.Ala1227Gly) n.4264C>G c.2732C>G (p.Ala911Gly) c.2222C>G (p.Ala741Gly) c.*2678C>G (n.*2678C>G) c.4076C>G (p.Ala1359Gly) c.4058C>G (p.Ala1353Gly) | |
| 22 | g.50721912C>T | CA515263896 | SHANK3 | c.3680C>T (p.Ala1227Val) n.4264C>T c.2732C>T (p.Ala911Val) c.2222C>T (p.Ala741Val) c.*2678C>T (n.*2678C>T) c.4076C>T (p.Ala1359Val) c.4058C>T (p.Ala1353Val) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721913T>A | CA515263898 | SHANK3 | c.3681T>A (p.Ala1227=) n.4265T>A c.2733T>A (p.Ala911=) c.2223T>A (p.Ala741=) c.*2679T>A (n.*2679T>A) c.4077T>A (p.Ala1359=) c.4059T>A (p.Ala1353=) | |
| 22 | g.50721913T>C | CA515263900 | SHANK3 | c.3681T>C (p.Ala1227=) n.4265T>C c.2733T>C (p.Ala911=) c.2223T>C (p.Ala741=) c.*2679T>C (n.*2679T>C) c.4077T>C (p.Ala1359=) c.4059T>C (p.Ala1353=) | gnomAD v4 |
| 22 | g.50721913T>G | CA515263901 | SHANK3 | c.3681T>G (p.Ala1227=) n.4265T>G c.2733T>G (p.Ala911=) c.2223T>G (p.Ala741=) c.*2679T>G (n.*2679T>G) c.4077T>G (p.Ala1359=) c.4059T>G (p.Ala1353=) | |
| 22 | g.50721914G>A | CA515263902 | SHANK3 | c.3682G>A (p.Asp1228Asn) n.4266G>A c.2734G>A (p.Asp912Asn) c.2224G>A (p.Asp742Asn) c.*2680G>A (n.*2680G>A) c.4078G>A (p.Asp1360Asn) c.4060G>A (p.Asp1354Asn) | |
| 22 | g.50721914G>C | CA515263903 | SHANK3 | c.3682G>C (p.Asp1228His) n.4266G>C c.2734G>C (p.Asp912His) c.2224G>C (p.Asp742His) c.*2680G>C (n.*2680G>C) c.4078G>C (p.Asp1360His) c.4060G>C (p.Asp1354His) | |
| 22 | g.50721914G>T | CA515263904 | SHANK3 | c.3682G>T (p.Asp1228Tyr) n.4266G>T c.2734G>T (p.Asp912Tyr) c.2224G>T (p.Asp742Tyr) c.*2680G>T (n.*2680G>T) c.4078G>T (p.Asp1360Tyr) c.4060G>T (p.Asp1354Tyr) | |
| 22 | g.50721914_50721916delinsGAC | CA2411008531 | SHANK3 | c.3682_3684delinsGAC (p.Asp1228=) n.4266_4268delinsGAC c.2734_2736delinsGAC (p.Asp912=) c.2224_2226delinsGAC (p.Asp742=) c.*2680_*2682delinsGAC (n.*2680_*2682delinsGAC) c.4078_4080delinsGAC (p.Asp1360=) c.4060_4062delinsGAC (p.Asp1354=) | |
| 22 | g.50721915A>C | CA515263905 | SHANK3 | c.3683A>C (p.Asp1228Ala) n.4267A>C c.2735A>C (p.Asp912Ala) c.2225A>C (p.Asp742Ala) c.*2681A>C (n.*2681A>C) c.4079A>C (p.Asp1360Ala) c.4061A>C (p.Asp1354Ala) | |
| 22 | g.50721915A>G | CA515263906 | SHANK3 | c.3683A>G (p.Asp1228Gly) n.4267A>G c.2735A>G (p.Asp912Gly) c.2225A>G (p.Asp742Gly) c.*2681A>G (n.*2681A>G) c.4079A>G (p.Asp1360Gly) c.4061A>G (p.Asp1354Gly) | |
| 22 | g.50721915A>T | CA515263907 | SHANK3 | c.3683A>T (p.Asp1228Val) n.4267A>T c.2735A>T (p.Asp912Val) c.2225A>T (p.Asp742Val) c.*2681A>T (n.*2681A>T) c.4079A>T (p.Asp1360Val) c.4061A>T (p.Asp1354Val) | |
| 22 | g.50721919_50721920del | CA915951512 | SHANK3 | c.3687_3688del (p.Arg1230GlnfsTer?) n.4271_4272del c.2739_2740del (p.Arg914GlnfsTer?) c.2229_2230del (p.Arg744GlnfsTer?) c.*2685_*2686del (n.*2685_*2686del) c.4083_4084del (p.Arg1362GlnfsTer?) c.4065_4066del (p.Arg1356GlnfsTer?) | ClinVar dbSNP |
| 22 | g.50721916C>A | CA515263910 | SHANK3 | c.3684C>A (p.Asp1228Glu) n.4268C>A c.2736C>A (p.Asp912Glu) c.2226C>A (p.Asp742Glu) c.*2682C>A (n.*2682C>A) c.4080C>A (p.Asp1360Glu) c.4062C>A (p.Asp1354Glu) | gnomAD v4 |
| 22 | g.50721916C= | CA2411008532 | SHANK3 | c.3684C= (p.Asp1228=) n.4268C= c.2736C= (p.Asp912=) c.2226C= (p.Asp742=) c.*2682C= (n.*2682C=) c.4080C= (p.Asp1360=) c.4062C= (p.Asp1354=) | |
| 22 | g.50721916C>G | CA515263909 | SHANK3 | c.3684C>G (p.Asp1228Glu) n.4268C>G c.2736C>G (p.Asp912Glu) c.2226C>G (p.Asp742Glu) c.*2682C>G (n.*2682C>G) c.4080C>G (p.Asp1360Glu) c.4062C>G (p.Asp1354Glu) | |
| 22 | g.50721916C>T | CA515263908 | SHANK3 | c.3684C>T (p.Asp1228=) n.4268C>T c.2736C>T (p.Asp912=) c.2226C>T (p.Asp742=) c.*2682C>T (n.*2682C>T) c.4080C>T (p.Asp1360=) c.4062C>T (p.Asp1354=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721917A>C | CA515263911 | SHANK3 | c.3685A>C (p.Thr1229Pro) n.4269A>C c.2737A>C (p.Thr913Pro) c.2227A>C (p.Thr743Pro) c.*2683A>C (n.*2683A>C) c.4081A>C (p.Thr1361Pro) c.4063A>C (p.Thr1355Pro) | |
| 22 | g.50721917A>G | CA515263912 | SHANK3 | c.3685A>G (p.Thr1229Ala) n.4269A>G c.2737A>G (p.Thr913Ala) c.2227A>G (p.Thr743Ala) c.*2683A>G (n.*2683A>G) c.4081A>G (p.Thr1361Ala) c.4063A>G (p.Thr1355Ala) | |
| 22 | g.50721917A>T | CA515263913 | SHANK3 | c.3685A>T (p.Thr1229Ser) n.4269A>T c.2737A>T (p.Thr913Ser) c.2227A>T (p.Thr743Ser) c.*2683A>T (n.*2683A>T) c.4081A>T (p.Thr1361Ser) c.4063A>T (p.Thr1355Ser) | |
| 22 | g.50721918C>A | CA515263914 | SHANK3 | c.3686C>A (p.Thr1229Lys) n.4270C>A c.2738C>A (p.Thr913Lys) c.2228C>A (p.Thr743Lys) c.*2684C>A (n.*2684C>A) c.4082C>A (p.Thr1361Lys) c.4064C>A (p.Thr1355Lys) | dbSNP |
| 22 | g.50721918C= | CA2411008533 | SHANK3 | c.3686C= (p.Thr1229=) n.4270C= c.2738C= (p.Thr913=) c.2228C= (p.Thr743=) c.*2684C= (n.*2684C=) c.4082C= (p.Thr1361=) c.4064C= (p.Thr1355=) | |
| 22 | g.50721918C>G | CA515263915 | SHANK3 | c.3686C>G (p.Thr1229Arg) n.4270C>G c.2738C>G (p.Thr913Arg) c.2228C>G (p.Thr743Arg) c.*2684C>G (n.*2684C>G) c.4082C>G (p.Thr1361Arg) c.4064C>G (p.Thr1355Arg) | |
| 22 | g.50721918C>T | CA515263916 | SHANK3 | c.3686C>T (p.Thr1229Ile) n.4270C>T c.2738C>T (p.Thr913Ile) c.2228C>T (p.Thr743Ile) c.*2684C>T (n.*2684C>T) c.4082C>T (p.Thr1361Ile) c.4064C>T (p.Thr1355Ile) | |
| 22 | g.50721919A>C | CA515263917 | SHANK3 | c.3687A>C (p.Thr1229=) n.4271A>C c.2739A>C (p.Thr913=) c.2229A>C (p.Thr743=) c.*2685A>C (n.*2685A>C) c.4083A>C (p.Thr1361=) c.4065A>C (p.Thr1355=) | |
| 22 | g.50721919A>G | CA515263918 | SHANK3 | c.3687A>G (p.Thr1229=) n.4271A>G c.2739A>G (p.Thr913=) c.2229A>G (p.Thr743=) c.*2685A>G (n.*2685A>G) c.4083A>G (p.Thr1361=) c.4065A>G (p.Thr1355=) | |
| 22 | g.50721919A>T | CA515263919 | SHANK3 | c.3687A>T (p.Thr1229=) n.4271A>T c.2739A>T (p.Thr913=) c.2229A>T (p.Thr743=) c.*2685A>T (n.*2685A>T) c.4083A>T (p.Thr1361=) c.4065A>T (p.Thr1355=) | |
| 22 | g.50721920C>A | CA515263920 | SHANK3 | c.3688C>A (p.Arg1230Ser) n.4272C>A c.2740C>A (p.Arg914Ser) c.2230C>A (p.Arg744Ser) c.*2686C>A (n.*2686C>A) c.4084C>A (p.Arg1362Ser) c.4066C>A (p.Arg1356Ser) | |
| 22 | g.50721920C= | CA2411008534 | SHANK3 | c.3688C= (p.Arg1230=) n.4272C= c.2740C= (p.Arg914=) c.2230C= (p.Arg744=) c.*2686C= (n.*2686C=) c.4084C= (p.Arg1362=) c.4066C= (p.Arg1356=) | |
| 22 | g.50721920C>G | CA515263921 | SHANK3 | c.3688C>G (p.Arg1230Gly) n.4272C>G c.2740C>G (p.Arg914Gly) c.2230C>G (p.Arg744Gly) c.*2686C>G (n.*2686C>G) c.4084C>G (p.Arg1362Gly) c.4066C>G (p.Arg1356Gly) | |
| 22 | g.50721920C>T | CA515263922 | SHANK3 | c.3688C>T (p.Arg1230Cys) n.4272C>T c.2740C>T (p.Arg914Cys) c.2230C>T (p.Arg744Cys) c.*2686C>T (n.*2686C>T) c.4084C>T (p.Arg1362Cys) c.4066C>T (p.Arg1356Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721921G>A | CA515263923 | SHANK3 | c.3689G>A (p.Arg1230His) n.4273G>A c.2741G>A (p.Arg914His) c.2231G>A (p.Arg744His) c.*2687G>A (n.*2687G>A) c.4085G>A (p.Arg1362His) c.4067G>A (p.Arg1356His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 22 | g.50721921G>C | CA515263925 | SHANK3 | c.3689G>C (p.Arg1230Pro) n.4273G>C c.2741G>C (p.Arg914Pro) c.2231G>C (p.Arg744Pro) c.*2687G>C (n.*2687G>C) c.4085G>C (p.Arg1362Pro) c.4067G>C (p.Arg1356Pro) | |
| 22 | g.50721921G= | CA2411008535 | SHANK3 | c.3689G= (p.Arg1230=) n.4273G= c.2741G= (p.Arg914=) c.2231G= (p.Arg744=) c.*2687G= (n.*2687G=) c.4085G= (p.Arg1362=) c.4067G= (p.Arg1356=) | |
| 22 | g.50721921G>T | CA515263924 | SHANK3 | c.3689G>T (p.Arg1230Leu) n.4273G>T c.2741G>T (p.Arg914Leu) c.2231G>T (p.Arg744Leu) c.*2687G>T (n.*2687G>T) c.4085G>T (p.Arg1362Leu) c.4067G>T (p.Arg1356Leu) | |
| 22 | g.50721922C>A | CA515263926 | SHANK3 | c.3690C>A (p.Arg1230=) n.4274C>A c.2742C>A (p.Arg914=) c.2232C>A (p.Arg744=) c.*2688C>A (n.*2688C>A) c.4086C>A (p.Arg1362=) c.4068C>A (p.Arg1356=) | gnomAD v4 |
| 22 | g.50721922C>G | CA515263928 | SHANK3 | c.3690C>G (p.Arg1230=) n.4274C>G c.2742C>G (p.Arg914=) c.2232C>G (p.Arg744=) c.*2688C>G (n.*2688C>G) c.4086C>G (p.Arg1362=) c.4068C>G (p.Arg1356=) | |
| 22 | g.50721922C>T | CA515263927 | SHANK3 | c.3690C>T (p.Arg1230=) n.4274C>T c.2742C>T (p.Arg914=) c.2232C>T (p.Arg744=) c.*2688C>T (n.*2688C>T) c.4086C>T (p.Arg1362=) c.4068C>T (p.Arg1356=) | gnomAD v4 |
| 22 | g.50721923A= | CA2411008536 | SHANK3 | c.3691A= (p.Ser1231=) n.4275A= c.2743A= (p.Ser915=) c.2233A= (p.Ser745=) c.*2689A= (n.*2689A=) c.4087A= (p.Ser1363=) c.4069A= (p.Ser1357=) | |
| 22 | g.50721923A>C | CA515263929 | SHANK3 | c.3691A>C (p.Ser1231Arg) n.4275A>C c.2743A>C (p.Ser915Arg) c.2233A>C (p.Ser745Arg) c.*2689A>C (n.*2689A>C) c.4087A>C (p.Ser1363Arg) c.4069A>C (p.Ser1357Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721923A>G | CA515263930 | SHANK3 | c.3691A>G (p.Ser1231Gly) n.4275A>G c.2743A>G (p.Ser915Gly) c.2233A>G (p.Ser745Gly) c.*2689A>G (n.*2689A>G) c.4087A>G (p.Ser1363Gly) c.4069A>G (p.Ser1357Gly) | |
| 22 | g.50721923A>T | CA515263931 | SHANK3 | c.3691A>T (p.Ser1231Cys) n.4275A>T c.2743A>T (p.Ser915Cys) c.2233A>T (p.Ser745Cys) c.*2689A>T (n.*2689A>T) c.4087A>T (p.Ser1363Cys) c.4069A>T (p.Ser1357Cys) | |
| 22 | g.50721924G>A | CA515263932 | SHANK3 | c.3692G>A (p.Ser1231Asn) n.4276G>A c.2744G>A (p.Ser915Asn) c.2234G>A (p.Ser745Asn) c.*2690G>A (n.*2690G>A) c.4088G>A (p.Ser1363Asn) c.4070G>A (p.Ser1357Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721924G>C | CA515263933 | SHANK3 | c.3692G>C (p.Ser1231Thr) n.4276G>C c.2744G>C (p.Ser915Thr) c.2234G>C (p.Ser745Thr) c.*2690G>C (n.*2690G>C) c.4088G>C (p.Ser1363Thr) c.4070G>C (p.Ser1357Thr) | |
| 22 | g.50721924G= | CA2411008537 | SHANK3 | c.3692G= (p.Ser1231=) n.4276G= c.2744G= (p.Ser915=) c.2234G= (p.Ser745=) c.*2690G= (n.*2690G=) c.4088G= (p.Ser1363=) c.4070G= (p.Ser1357=) | |
| 22 | g.50721924G>T | CA515263934 | SHANK3 | c.3692G>T (p.Ser1231Ile) n.4276G>T c.2744G>T (p.Ser915Ile) c.2234G>T (p.Ser745Ile) c.*2690G>T (n.*2690G>T) c.4088G>T (p.Ser1363Ile) c.4070G>T (p.Ser1357Ile) | |
| 22 | g.50721925C>A | CA515263935 | SHANK3 | c.3693C>A (p.Ser1231Arg) n.4277C>A c.2745C>A (p.Ser915Arg) c.2235C>A (p.Ser745Arg) c.*2691C>A (n.*2691C>A) c.4089C>A (p.Ser1363Arg) c.4071C>A (p.Ser1357Arg) | |
| 22 | g.50721925C= | CA2411008538 | SHANK3 | c.3693C= (p.Ser1231=) n.4277C= c.2745C= (p.Ser915=) c.2235C= (p.Ser745=) c.*2691C= (n.*2691C=) c.4089C= (p.Ser1363=) c.4071C= (p.Ser1357=) | |
| 22 | g.50721925C>G | CA515263936 | SHANK3 | c.3693C>G (p.Ser1231Arg) n.4277C>G c.2745C>G (p.Ser915Arg) c.2235C>G (p.Ser745Arg) c.*2691C>G (n.*2691C>G) c.4089C>G (p.Ser1363Arg) c.4071C>G (p.Ser1357Arg) | |
| 22 | g.50721925C>T | CA515263937 | SHANK3 | c.3693C>T (p.Ser1231=) n.4277C>T c.2745C>T (p.Ser915=) c.2235C>T (p.Ser745=) c.*2691C>T (n.*2691C>T) c.4089C>T (p.Ser1363=) c.4071C>T (p.Ser1357=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721926T>A | CA515263938 | SHANK3 | c.3694T>A (p.Ser1232Thr) n.4278T>A c.2746T>A (p.Ser916Thr) c.2236T>A (p.Ser746Thr) c.*2692T>A (n.*2692T>A) c.4090T>A (p.Ser1364Thr) c.4072T>A (p.Ser1358Thr) | |
| 22 | g.50721926T>C | CA515263939 | SHANK3 | c.3694T>C (p.Ser1232Pro) n.4278T>C c.2746T>C (p.Ser916Pro) c.2236T>C (p.Ser746Pro) c.*2692T>C (n.*2692T>C) c.4090T>C (p.Ser1364Pro) c.4072T>C (p.Ser1358Pro) | |
| 22 | g.50721926T>G | CA515263940 | SHANK3 | c.3694T>G (p.Ser1232Ala) n.4278T>G c.2746T>G (p.Ser916Ala) c.2236T>G (p.Ser746Ala) c.*2692T>G (n.*2692T>G) c.4090T>G (p.Ser1364Ala) c.4072T>G (p.Ser1358Ala) | |
| 22 | g.50721927C>A | CA515263941 | SHANK3 | c.3695C>A (p.Ser1232Tyr) n.4279C>A c.2747C>A (p.Ser916Tyr) c.2237C>A (p.Ser746Tyr) c.*2693C>A (n.*2693C>A) c.4091C>A (p.Ser1364Tyr) c.4073C>A (p.Ser1358Tyr) | |
| 22 | g.50721927C= | CA2411008539 | SHANK3 | c.3695C= (p.Ser1232=) n.4279C= c.2747C= (p.Ser916=) c.2237C= (p.Ser746=) c.*2693C= (n.*2693C=) c.4091C= (p.Ser1364=) c.4073C= (p.Ser1358=) | |
| 22 | g.50721927C>G | CA515263943 | SHANK3 | c.3695C>G (p.Ser1232Cys) n.4279C>G c.2747C>G (p.Ser916Cys) c.2237C>G (p.Ser746Cys) c.*2693C>G (n.*2693C>G) c.4091C>G (p.Ser1364Cys) c.4073C>G (p.Ser1358Cys) | COSMIC COSMIC |
| 22 | g.50721927C>T | CA515263942 | SHANK3 | c.3695C>T (p.Ser1232Phe) n.4279C>T c.2747C>T (p.Ser916Phe) c.2237C>T (p.Ser746Phe) c.*2693C>T (n.*2693C>T) c.4091C>T (p.Ser1364Phe) c.4073C>T (p.Ser1358Phe) | dbSNP |
| 22 | g.50721928C>A | CA515263945 | SHANK3 | c.3696C>A (p.Ser1232=) n.4280C>A c.2748C>A (p.Ser916=) c.2238C>A (p.Ser746=) c.*2694C>A (n.*2694C>A) c.4092C>A (p.Ser1364=) c.4074C>A (p.Ser1358=) | |
| 22 | g.50721928C= | CA2411008540 | SHANK3 | c.3696C= (p.Ser1232=) n.4280C= c.2748C= (p.Ser916=) c.2238C= (p.Ser746=) c.*2694C= (n.*2694C=) c.4092C= (p.Ser1364=) c.4074C= (p.Ser1358=) | |
| 22 | g.50721928C>G | CA515263946 | SHANK3 | c.3696C>G (p.Ser1232=) n.4280C>G c.2748C>G (p.Ser916=) c.2238C>G (p.Ser746=) c.*2694C>G (n.*2694C>G) c.4092C>G (p.Ser1364=) c.4074C>G (p.Ser1358=) | |
| 22 | g.50721928C>T | CA515263947 | SHANK3 | c.3696C>T (p.Ser1232=) n.4280C>T c.2748C>T (p.Ser916=) c.2238C>T (p.Ser746=) c.*2694C>T (n.*2694C>T) c.4092C>T (p.Ser1364=) c.4074C>T (p.Ser1358=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721929A>C | CA515263948 | SHANK3 | c.3697A>C (p.Ser1233Arg) n.4281A>C c.2749A>C (p.Ser917Arg) c.2239A>C (p.Ser747Arg) c.*2695A>C (n.*2695A>C) c.4093A>C (p.Ser1365Arg) c.4075A>C (p.Ser1359Arg) | |
| 22 | g.50721929A>G | CA515263949 | SHANK3 | c.3697A>G (p.Ser1233Gly) n.4281A>G c.2749A>G (p.Ser917Gly) c.2239A>G (p.Ser747Gly) c.*2695A>G (n.*2695A>G) c.4093A>G (p.Ser1365Gly) c.4075A>G (p.Ser1359Gly) | |
| 22 | g.50721929A>T | CA515263950 | SHANK3 | c.3697A>T (p.Ser1233Cys) n.4281A>T c.2749A>T (p.Ser917Cys) c.2239A>T (p.Ser747Cys) c.*2695A>T (n.*2695A>T) c.4093A>T (p.Ser1365Cys) c.4075A>T (p.Ser1359Cys) | |
| 22 | g.50721930G>A | CA515263951 | SHANK3 | c.3698G>A (p.Ser1233Asn) n.4282G>A c.2750G>A (p.Ser917Asn) c.2240G>A (p.Ser747Asn) c.*2696G>A (n.*2696G>A) c.4094G>A (p.Ser1365Asn) c.4076G>A (p.Ser1359Asn) | |
| 22 | g.50721930G>C | CA515263952 | SHANK3 | c.3698G>C (p.Ser1233Thr) n.4282G>C c.2750G>C (p.Ser917Thr) c.2240G>C (p.Ser747Thr) c.*2696G>C (n.*2696G>C) c.4094G>C (p.Ser1365Thr) c.4076G>C (p.Ser1359Thr) | |
| 22 | g.50721930G>T | CA515263953 | SHANK3 | c.3698G>T (p.Ser1233Ile) n.4282G>T c.2750G>T (p.Ser917Ile) c.2240G>T (p.Ser747Ile) c.*2696G>T (n.*2696G>T) c.4094G>T (p.Ser1365Ile) c.4076G>T (p.Ser1359Ile) | |
| 22 | g.50721931C>A | CA515263955 | SHANK3 | c.3699C>A (p.Ser1233Arg) n.4283C>A c.2751C>A (p.Ser917Arg) c.2241C>A (p.Ser747Arg) c.*2697C>A (n.*2697C>A) c.4095C>A (p.Ser1365Arg) c.4077C>A (p.Ser1359Arg) | |
| 22 | g.50721931C= | CA2411008541 | SHANK3 | c.3699C= (p.Ser1233=) n.4283C= c.2751C= (p.Ser917=) c.2241C= (p.Ser747=) c.*2697C= (n.*2697C=) c.4095C= (p.Ser1365=) c.4077C= (p.Ser1359=) | |
| 22 | g.50721931C>G | CA515263954 | SHANK3 | c.3699C>G (p.Ser1233Arg) n.4283C>G c.2751C>G (p.Ser917Arg) c.2241C>G (p.Ser747Arg) c.*2697C>G (n.*2697C>G) c.4095C>G (p.Ser1365Arg) c.4077C>G (p.Ser1359Arg) | |
| 22 | g.50721931C>T | CA10326204 | SHANK3 | c.3699C>T (p.Ser1233=) n.4283C>T c.2751C>T (p.Ser917=) c.2241C>T (p.Ser747=) c.*2697C>T (n.*2697C>T) c.4095C>T (p.Ser1365=) c.4077C>T (p.Ser1359=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721932G>A | CA515263956 | SHANK3 | c.3700G>A (p.Asp1234Asn) n.4284G>A c.2752G>A (p.Asp918Asn) c.2242G>A (p.Asp748Asn) c.*2698G>A (n.*2698G>A) c.4096G>A (p.Asp1366Asn) c.4078G>A (p.Asp1360Asn) | gnomAD v4 |
| 22 | g.50721932G>C | CA515263957 | SHANK3 | c.3700G>C (p.Asp1234His) n.4284G>C c.2752G>C (p.Asp918His) c.2242G>C (p.Asp748His) c.*2698G>C (n.*2698G>C) c.4096G>C (p.Asp1366His) c.4078G>C (p.Asp1360His) | |
| 22 | g.50721932G>T | CA515263958 | SHANK3 | c.3700G>T (p.Asp1234Tyr) n.4284G>T c.2752G>T (p.Asp918Tyr) c.2242G>T (p.Asp748Tyr) c.*2698G>T (n.*2698G>T) c.4096G>T (p.Asp1366Tyr) c.4078G>T (p.Asp1360Tyr) | |
| 22 | g.50721933A>C | CA515263959 | SHANK3 | c.3701A>C (p.Asp1234Ala) n.4285A>C c.2753A>C (p.Asp918Ala) c.2243A>C (p.Asp748Ala) c.*2699A>C (n.*2699A>C) c.4097A>C (p.Asp1366Ala) c.4079A>C (p.Asp1360Ala) | |
| 22 | g.50721933A>G | CA515263960 | SHANK3 | c.3701A>G (p.Asp1234Gly) n.4285A>G c.2753A>G (p.Asp918Gly) c.2243A>G (p.Asp748Gly) c.*2699A>G (n.*2699A>G) c.4097A>G (p.Asp1366Gly) c.4079A>G (p.Asp1360Gly) | COSMIC COSMIC |
| 22 | g.50721933A>T | CA515263961 | SHANK3 | c.3701A>T (p.Asp1234Val) n.4285A>T c.2753A>T (p.Asp918Val) c.2243A>T (p.Asp748Val) c.*2699A>T (n.*2699A>T) c.4097A>T (p.Asp1366Val) c.4079A>T (p.Asp1360Val) | |
| 22 | g.50721934C>A | CA515263962 | SHANK3 | c.3702C>A (p.Asp1234Glu) n.4286C>A c.2754C>A (p.Asp918Glu) c.2244C>A (p.Asp748Glu) c.*2700C>A (n.*2700C>A) c.4098C>A (p.Asp1366Glu) c.4080C>A (p.Asp1360Glu) | gnomAD v4 |
| 22 | g.50721934C= | CA2411008542 | SHANK3 | c.3702C= (p.Asp1234=) n.4286C= c.2754C= (p.Asp918=) c.2244C= (p.Asp748=) c.*2700C= (n.*2700C=) c.4098C= (p.Asp1366=) c.4080C= (p.Asp1360=) | |
| 22 | g.50721934C>G | CA515263963 | SHANK3 | c.3702C>G (p.Asp1234Glu) n.4286C>G c.2754C>G (p.Asp918Glu) c.2244C>G (p.Asp748Glu) c.*2700C>G (n.*2700C>G) c.4098C>G (p.Asp1366Glu) c.4080C>G (p.Asp1360Glu) | |
| 22 | g.50721934C>T | CA10326205 | SHANK3 | c.3702C>T (p.Asp1234=) n.4286C>T c.2754C>T (p.Asp918=) c.2244C>T (p.Asp748=) c.*2700C>T (n.*2700C>T) c.4098C>T (p.Asp1366=) c.4080C>T (p.Asp1360=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721935C>A | CA515263964 | SHANK3 | c.3703C>A (p.Pro1235Thr) n.4287C>A c.2755C>A (p.Pro919Thr) c.2245C>A (p.Pro749Thr) c.*2701C>A (n.*2701C>A) c.4099C>A (p.Pro1367Thr) c.4081C>A (p.Pro1361Thr) | |
| 22 | g.50721935C>G | CA515263965 | SHANK3 | c.3703C>G (p.Pro1235Ala) n.4287C>G c.2755C>G (p.Pro919Ala) c.2245C>G (p.Pro749Ala) c.*2701C>G (n.*2701C>G) c.4099C>G (p.Pro1367Ala) c.4081C>G (p.Pro1361Ala) | |
| 22 | g.50721935C>T | CA515263966 | SHANK3 | c.3703C>T (p.Pro1235Ser) n.4287C>T c.2755C>T (p.Pro919Ser) c.2245C>T (p.Pro749Ser) c.*2701C>T (n.*2701C>T) c.4099C>T (p.Pro1367Ser) c.4081C>T (p.Pro1361Ser) | |
| 22 | g.50721936C>A | CA515263969 | SHANK3 | c.3704C>A (p.Pro1235His) n.4288C>A c.2756C>A (p.Pro919His) c.2246C>A (p.Pro749His) c.*2702C>A (n.*2702C>A) c.4100C>A (p.Pro1367His) c.4082C>A (p.Pro1361His) | gnomAD v4 |
| 22 | g.50721936C= | CA2411008543 | SHANK3 | c.3704C= (p.Pro1235=) n.4288C= c.2756C= (p.Pro919=) c.2246C= (p.Pro749=) c.*2702C= (n.*2702C=) c.4100C= (p.Pro1367=) c.4082C= (p.Pro1361=) | |
| 22 | g.50721936C>G | CA515263967 | SHANK3 | c.3704C>G (p.Pro1235Arg) n.4288C>G c.2756C>G (p.Pro919Arg) c.2246C>G (p.Pro749Arg) c.*2702C>G (n.*2702C>G) c.4100C>G (p.Pro1367Arg) c.4082C>G (p.Pro1361Arg) | |
| 22 | g.50721936C>T | CA515263968 | SHANK3 | c.3704C>T (p.Pro1235Leu) n.4288C>T c.2756C>T (p.Pro919Leu) c.2246C>T (p.Pro749Leu) c.*2702C>T (n.*2702C>T) c.4100C>T (p.Pro1367Leu) c.4082C>T (p.Pro1361Leu) | dbSNP gnomAD v2 |
| 22 | g.50721937C>A | CA515263970 | SHANK3 | c.3705C>A (p.Pro1235=) n.4289C>A c.2757C>A (p.Pro919=) c.2247C>A (p.Pro749=) c.*2703C>A (n.*2703C>A) c.4101C>A (p.Pro1367=) c.4083C>A (p.Pro1361=) | gnomAD v4 |
| 22 | g.50721937C= | CA2411008544 | SHANK3 | c.3705C= (p.Pro1235=) n.4289C= c.2757C= (p.Pro919=) c.2247C= (p.Pro749=) c.*2703C= (n.*2703C=) c.4101C= (p.Pro1367=) c.4083C= (p.Pro1361=) | |
| 22 | g.50721937C>G | CA515263971 | SHANK3 | c.3705C>G (p.Pro1235=) n.4289C>G c.2757C>G (p.Pro919=) c.2247C>G (p.Pro749=) c.*2703C>G (n.*2703C>G) c.4101C>G (p.Pro1367=) c.4083C>G (p.Pro1361=) | |
| 22 | g.50721937C>T | CA515263972 | SHANK3 | c.3705C>T (p.Pro1235=) n.4289C>T c.2757C>T (p.Pro919=) c.2247C>T (p.Pro749=) c.*2703C>T (n.*2703C>T) c.4101C>T (p.Pro1367=) c.4083C>T (p.Pro1361=) | dbSNP gnomAD v4 |
| 22 | g.50721938C>A | CA515263973 | SHANK3 | c.3706C>A (p.His1236Asn) n.4290C>A c.2758C>A (p.His920Asn) c.2248C>A (p.His750Asn) c.*2704C>A (n.*2704C>A) c.4102C>A (p.His1368Asn) c.4084C>A (p.His1362Asn) | gnomAD v4 |
| 22 | g.50721938C>G | CA515263974 | SHANK3 | c.3706C>G (p.His1236Asp) n.4290C>G c.2758C>G (p.His920Asp) c.2248C>G (p.His750Asp) c.*2704C>G (n.*2704C>G) c.4102C>G (p.His1368Asp) c.4084C>G (p.His1362Asp) | |
| 22 | g.50721938C>T | CA515263975 | SHANK3 | c.3706C>T (p.His1236Tyr) n.4290C>T c.2758C>T (p.His920Tyr) c.2248C>T (p.His750Tyr) c.*2704C>T (n.*2704C>T) c.4102C>T (p.His1368Tyr) c.4084C>T (p.His1362Tyr) | |
| 22 | g.50721939A>C | CA515263976 | SHANK3 | c.3707A>C (p.His1236Pro) n.4291A>C c.2759A>C (p.His920Pro) c.2249A>C (p.His750Pro) c.*2705A>C (n.*2705A>C) c.4103A>C (p.His1368Pro) c.4085A>C (p.His1362Pro) | |
| 22 | g.50721939A>G | CA515263977 | SHANK3 | c.3707A>G (p.His1236Arg) n.4291A>G c.2759A>G (p.His920Arg) c.2249A>G (p.His750Arg) c.*2705A>G (n.*2705A>G) c.4103A>G (p.His1368Arg) c.4085A>G (p.His1362Arg) | |
| 22 | g.50721939A>T | CA515263978 | SHANK3 | c.3707A>T (p.His1236Leu) n.4291A>T c.2759A>T (p.His920Leu) c.2249A>T (p.His750Leu) c.*2705A>T (n.*2705A>T) c.4103A>T (p.His1368Leu) c.4085A>T (p.His1362Leu) | |
| 22 | g.50721940C>A | CA515263979 | SHANK3 | c.3708C>A (p.His1236Gln) n.4292C>A c.2760C>A (p.His920Gln) c.2250C>A (p.His750Gln) c.*2706C>A (n.*2706C>A) c.4104C>A (p.His1368Gln) c.4086C>A (p.His1362Gln) | |
| 22 | g.50721940C= | CA2411008545 | SHANK3 | c.3708C= (p.His1236=) n.4292C= c.2760C= (p.His920=) c.2250C= (p.His750=) c.*2706C= (n.*2706C=) c.4104C= (p.His1368=) c.4086C= (p.His1362=) | |
| 22 | g.50721940C>G | CA515263980 | SHANK3 | c.3708C>G (p.His1236Gln) n.4292C>G c.2760C>G (p.His920Gln) c.2250C>G (p.His750Gln) c.*2706C>G (n.*2706C>G) c.4104C>G (p.His1368Gln) c.4086C>G (p.His1362Gln) | |
| 22 | g.50721940C>T | CA515263981 | SHANK3 | c.3708C>T (p.His1236=) n.4292C>T c.2760C>T (p.His920=) c.2250C>T (p.His750=) c.*2706C>T (n.*2706C>T) c.4104C>T (p.His1368=) c.4086C>T (p.His1362=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721941C>A | CA515263983 | SHANK3 | c.3709C>A (p.Leu1237Met) n.4293C>A c.2761C>A (p.Leu921Met) c.2251C>A (p.Leu751Met) c.*2707C>A (n.*2707C>A) c.4105C>A (p.Leu1369Met) c.4087C>A (p.Leu1363Met) | |
| 22 | g.50721941C= | CA2411008547 | SHANK3 | c.3709C= (p.Leu1237=) n.4293C= c.2761C= (p.Leu921=) c.2251C= (p.Leu751=) c.*2707C= (n.*2707C=) c.4105C= (p.Leu1369=) c.4087C= (p.Leu1363=) | |
| 22 | g.50721941C>G | CA515263984 | SHANK3 | c.3709C>G (p.Leu1237Val) n.4293C>G c.2761C>G (p.Leu921Val) c.2251C>G (p.Leu751Val) c.*2707C>G (n.*2707C>G) c.4105C>G (p.Leu1369Val) c.4087C>G (p.Leu1363Val) | |
| 22 | g.50721941C>T | CA515263982 | SHANK3 | c.3709C>T (p.Leu1237=) n.4293C>T c.2761C>T (p.Leu921=) c.2251C>T (p.Leu751=) c.*2707C>T (n.*2707C>T) c.4105C>T (p.Leu1369=) c.4087C>T (p.Leu1363=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721941_50721943delinsCTG | CA2411008546 | SHANK3 | c.3709_3711delinsCTG (p.Leu1237=) n.4293_4295delinsCTG c.2761_2763delinsCTG (p.Leu921=) c.2251_2253delinsCTG (p.Leu751=) c.*2707_*2709delinsCTG (n.*2707_*2709delinsCTG) c.4105_4107delinsCTG (p.Leu1369=) c.4087_4089delinsCTG (p.Leu1363=) | |
| 22 | g.50721942T>A | CA515263986 | SHANK3 | c.3710T>A (p.Leu1237Gln) n.4294T>A c.2762T>A (p.Leu921Gln) c.2252T>A (p.Leu751Gln) c.*2708T>A (n.*2708T>A) c.4106T>A (p.Leu1369Gln) c.4088T>A (p.Leu1363Gln) | |
| 22 | g.50721942T>C | CA515263985 | SHANK3 | c.3710T>C (p.Leu1237Pro) n.4294T>C c.2762T>C (p.Leu921Pro) c.2252T>C (p.Leu751Pro) c.*2708T>C (n.*2708T>C) c.4106T>C (p.Leu1369Pro) c.4088T>C (p.Leu1363Pro) | gnomAD v4 |
| 22 | g.50721942T>G | CA515263987 | SHANK3 | c.3710T>G (p.Leu1237Arg) n.4294T>G c.2762T>G (p.Leu921Arg) c.2252T>G (p.Leu751Arg) c.*2708T>G (n.*2708T>G) c.4106T>G (p.Leu1369Arg) c.4088T>G (p.Leu1363Arg) | |
| 22 | g.50721942_50721943del | CA16621141 | SHANK3 | c.3710_3711del (p.Leu1237ArgfsTer24) n.4294_4295del c.2762_2763del (p.Leu921ArgfsTer24) c.2252_2253del (p.Leu751ArgfsTer24) c.*2708_*2709del (n.*2708_*2709del) c.4106_4107del (p.Leu1369ArgfsTer24) c.4088_4089del (p.Leu1363ArgfsTer24) | ClinVar dbSNP |
| 22 | g.50721943G>A | CA515263988 | SHANK3 | c.3711G>A (p.Leu1237=) n.4295G>A c.2763G>A (p.Leu921=) c.2253G>A (p.Leu751=) c.*2709G>A (n.*2709G>A) c.4107G>A (p.Leu1369=) c.4089G>A (p.Leu1363=) | gnomAD v4 |
| 22 | g.50721943G>C | CA515263989 | SHANK3 | c.3711G>C (p.Leu1237=) n.4295G>C c.2763G>C (p.Leu921=) c.2253G>C (p.Leu751=) c.*2709G>C (n.*2709G>C) c.4107G>C (p.Leu1369=) c.4089G>C (p.Leu1363=) | |
| 22 | g.50721943G>T | CA515263990 | SHANK3 | c.3711G>T (p.Leu1237=) n.4295G>T c.2763G>T (p.Leu921=) c.2253G>T (p.Leu751=) c.*2709G>T (n.*2709G>T) c.4107G>T (p.Leu1369=) c.4089G>T (p.Leu1363=) | |
| 22 | g.50721944G>A | CA515263992 | SHANK3 | c.3712G>A (p.Glu1238Lys) n.4296G>A c.2764G>A (p.Glu922Lys) c.2254G>A (p.Glu752Lys) c.*2710G>A (n.*2710G>A) c.4108G>A (p.Glu1370Lys) c.4090G>A (p.Glu1364Lys) | |
| 22 | g.50721944G>C | CA515263993 | SHANK3 | c.3712G>C (p.Glu1238Gln) n.4296G>C c.2764G>C (p.Glu922Gln) c.2254G>C (p.Glu752Gln) c.*2710G>C (n.*2710G>C) c.4108G>C (p.Glu1370Gln) c.4090G>C (p.Glu1364Gln) | |
| 22 | g.50721944G>T | CA515263994 | SHANK3 | c.3712G>T (p.Glu1238Ter) n.4296G>T c.2764G>T (p.Glu922Ter) c.2254G>T (p.Glu752Ter) c.*2710G>T (n.*2710G>T) c.4108G>T (p.Glu1370Ter) c.4090G>T (p.Glu1364Ter) | |
| 22 | g.50721945A>C | CA515263995 | SHANK3 | c.3713A>C (p.Glu1238Ala) n.4297A>C c.2765A>C (p.Glu922Ala) c.2255A>C (p.Glu752Ala) c.*2711A>C (n.*2711A>C) c.4109A>C (p.Glu1370Ala) c.4091A>C (p.Glu1364Ala) | |
| 22 | g.50721945A>G | CA515263996 | SHANK3 | c.3713A>G (p.Glu1238Gly) n.4297A>G c.2765A>G (p.Glu922Gly) c.2255A>G (p.Glu752Gly) c.*2711A>G (n.*2711A>G) c.4109A>G (p.Glu1370Gly) c.4091A>G (p.Glu1364Gly) | gnomAD v4 |
| 22 | g.50721945A>T | CA515263997 | SHANK3 | c.3713A>T (p.Glu1238Val) n.4297A>T c.2765A>T (p.Glu922Val) c.2255A>T (p.Glu752Val) c.*2711A>T (n.*2711A>T) c.4109A>T (p.Glu1370Val) c.4091A>T (p.Glu1364Val) | |
| 22 | g.50721946G>A | CA10326206 | SHANK3 | c.3714G>A (p.Glu1238=) n.4298G>A c.2766G>A (p.Glu922=) c.2256G>A (p.Glu752=) c.*2712G>A (n.*2712G>A) c.4110G>A (p.Glu1370=) c.4092G>A (p.Glu1364=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721946G>C | CA515263999 | SHANK3 | c.3714G>C (p.Glu1238Asp) n.4298G>C c.2766G>C (p.Glu922Asp) c.2256G>C (p.Glu752Asp) c.*2712G>C (n.*2712G>C) c.4110G>C (p.Glu1370Asp) c.4092G>C (p.Glu1364Asp) | |
| 22 | g.50721946G= | CA2411008548 | SHANK3 | c.3714G= (p.Glu1238=) n.4298G= c.2766G= (p.Glu922=) c.2256G= (p.Glu752=) c.*2712G= (n.*2712G=) c.4110G= (p.Glu1370=) c.4092G= (p.Glu1364=) | |
| 22 | g.50721946G>T | CA515264000 | SHANK3 | c.3714G>T (p.Glu1238Asp) n.4298G>T c.2766G>T (p.Glu922Asp) c.2256G>T (p.Glu752Asp) c.*2712G>T (n.*2712G>T) c.4110G>T (p.Glu1370Asp) c.4092G>T (p.Glu1364Asp) | |
| 22 | g.50721947A>C | CA515264003 | SHANK3 | c.3715A>C (p.Thr1239Pro) n.4299A>C c.2767A>C (p.Thr923Pro) c.2257A>C (p.Thr753Pro) c.*2713A>C (n.*2713A>C) c.4111A>C (p.Thr1371Pro) c.4093A>C (p.Thr1365Pro) | |
| 22 | g.50721947A>G | CA515264002 | SHANK3 | c.3715A>G (p.Thr1239Ala) n.4299A>G c.2767A>G (p.Thr923Ala) c.2257A>G (p.Thr753Ala) c.*2713A>G (n.*2713A>G) c.4111A>G (p.Thr1371Ala) c.4093A>G (p.Thr1365Ala) | |
| 22 | g.50721947A>T | CA515264001 | SHANK3 | c.3715A>T (p.Thr1239Ser) n.4299A>T c.2767A>T (p.Thr923Ser) c.2257A>T (p.Thr753Ser) c.*2713A>T (n.*2713A>T) c.4111A>T (p.Thr1371Ser) c.4093A>T (p.Thr1365Ser) | |
| 22 | g.50721948C>A | CA515264004 | SHANK3 | c.3716C>A (p.Thr1239Asn) n.4300C>A c.2768C>A (p.Thr923Asn) c.2258C>A (p.Thr753Asn) c.*2714C>A (n.*2714C>A) c.4112C>A (p.Thr1371Asn) c.4094C>A (p.Thr1365Asn) | |
| 22 | g.50721948C>G | CA515264005 | SHANK3 | c.3716C>G (p.Thr1239Ser) n.4300C>G c.2768C>G (p.Thr923Ser) c.2258C>G (p.Thr753Ser) c.*2714C>G (n.*2714C>G) c.4112C>G (p.Thr1371Ser) c.4094C>G (p.Thr1365Ser) | |
| 22 | g.50721948C>T | CA515264006 | SHANK3 | c.3716C>T (p.Thr1239Ile) n.4300C>T c.2768C>T (p.Thr923Ile) c.2258C>T (p.Thr753Ile) c.*2714C>T (n.*2714C>T) c.4112C>T (p.Thr1371Ile) c.4094C>T (p.Thr1365Ile) | gnomAD v4 |
| 22 | g.50721949del | CA2580100017 | SHANK3 | c.3717del (p.Thr1240GlnfsTer13) n.4301del c.2769del (p.Thr924GlnfsTer13) c.2259del (p.Thr754GlnfsTer13) c.*2715del (n.*2715del) c.4113del (p.Thr1372GlnfsTer13) c.4095del (p.Thr1366GlnfsTer13) | ClinVar |