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.70486098C>A | CA381683663 | SHANK2 | c.2428G>T (p.Val810Leu) c.757+4205G>T (n.757+4205G>T) c.4195G>T (p.Val1399Leu) c.1623G>T c.3058G>T (p.Val1020Leu) c.2485G>T (p.Val829Leu) c.2431G>T (p.Val811Leu) c.718+4205G>T (n.718+4205G>T) c.2407G>T (p.Val803Leu) c.755+4205G>T c.2032G>T (p.Val678Leu) n.833+4205G>T c.4165G>T (p.Val1389Leu) c.4207G>T (p.Val1403Leu) c.4186G>T (p.Val1396Leu) c.4180G>T (p.Val1394Leu) c.4159G>T (p.Val1387Leu) c.3070G>T (p.Val1024Leu) c.4168G>T (p.Val1390Leu) n.834+4205G>T | |
| 11 | g.70486098C= | CA1981074402 | SHANK2 | c.2428G= (p.Val810=) c.757+4205G= (n.757+4205G=) c.4195G= (p.Val1399=) c.1623G= c.3058G= (p.Val1020=) c.2485G= (p.Val829=) c.2431G= (p.Val811=) c.718+4205G= (n.718+4205G=) c.2407G= (p.Val803=) c.755+4205G= c.2032G= (p.Val678=) n.833+4205G= c.4165G= (p.Val1389=) c.4207G= (p.Val1403=) c.4186G= (p.Val1396=) c.4180G= (p.Val1394=) c.4159G= (p.Val1387=) c.3070G= (p.Val1024=) c.4168G= (p.Val1390=) n.834+4205G= | |
| 11 | g.70486098C>G | CA381683665 | SHANK2 | c.2428G>C (p.Val810Leu) c.757+4205G>C (n.757+4205G>C) c.4195G>C (p.Val1399Leu) c.1623G>C c.3058G>C (p.Val1020Leu) c.2485G>C (p.Val829Leu) c.2431G>C (p.Val811Leu) c.718+4205G>C (n.718+4205G>C) c.2407G>C (p.Val803Leu) c.755+4205G>C c.2032G>C (p.Val678Leu) n.833+4205G>C c.4165G>C (p.Val1389Leu) c.4207G>C (p.Val1403Leu) c.4186G>C (p.Val1396Leu) c.4180G>C (p.Val1394Leu) c.4159G>C (p.Val1387Leu) c.3070G>C (p.Val1024Leu) c.4168G>C (p.Val1390Leu) n.834+4205G>C | |
| 11 | g.70486098C>T | CA214619 | SHANK2 | c.2428G>A (p.Val810Met) c.757+4205G>A (n.757+4205G>A) c.4195G>A (p.Val1399Met) c.1623G>A c.3058G>A (p.Val1020Met) c.2485G>A (p.Val829Met) c.2431G>A (p.Val811Met) c.718+4205G>A (n.718+4205G>A) c.2407G>A (p.Val803Met) c.755+4205G>A c.2032G>A (p.Val678Met) n.833+4205G>A c.4165G>A (p.Val1389Met) c.4207G>A (p.Val1403Met) c.4186G>A (p.Val1396Met) c.4180G>A (p.Val1394Met) c.4159G>A (p.Val1387Met) c.3070G>A (p.Val1024Met) c.4168G>A (p.Val1390Met) n.834+4205G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.70486099G>A | CA6160958 | SHANK2 | c.2427C>T (p.Ser809=) c.757+4204C>T (n.757+4204C>T) c.4194C>T (p.Ser1398=) c.1622C>T c.3057C>T (p.Ser1019=) c.2484C>T (p.Ser828=) c.2430C>T (p.Ser810=) c.718+4204C>T (n.718+4204C>T) c.2406C>T (p.Ser802=) c.755+4204C>T c.2031C>T (p.Ser677=) n.833+4204C>T c.4164C>T (p.Ser1388=) c.4206C>T (p.Ser1402=) c.4185C>T (p.Ser1395=) c.4179C>T (p.Ser1393=) c.4158C>T (p.Ser1386=) c.3069C>T (p.Ser1023=) c.4167C>T (p.Ser1389=) n.834+4204C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.70486099G>C | CA475700130 | SHANK2 | c.2427C>G (p.Ser809=) c.757+4204C>G (n.757+4204C>G) c.4194C>G (p.Ser1398=) c.1622C>G c.3057C>G (p.Ser1019=) c.2484C>G (p.Ser828=) c.2430C>G (p.Ser810=) c.718+4204C>G (n.718+4204C>G) c.2406C>G (p.Ser802=) c.755+4204C>G c.2031C>G (p.Ser677=) n.833+4204C>G c.4164C>G (p.Ser1388=) c.4206C>G (p.Ser1402=) c.4185C>G (p.Ser1395=) c.4179C>G (p.Ser1393=) c.4158C>G (p.Ser1386=) c.3069C>G (p.Ser1023=) c.4167C>G (p.Ser1389=) n.834+4204C>G | |
| 11 | g.70486099G= | CA1981074411 | SHANK2 | c.2427C= (p.Ser809=) c.757+4204C= (n.757+4204C=) c.4194C= (p.Ser1398=) c.1622C= c.3057C= (p.Ser1019=) c.2484C= (p.Ser828=) c.2430C= (p.Ser810=) c.718+4204C= (n.718+4204C=) c.2406C= (p.Ser802=) c.755+4204C= c.2031C= (p.Ser677=) n.833+4204C= c.4164C= (p.Ser1388=) c.4206C= (p.Ser1402=) c.4185C= (p.Ser1395=) c.4179C= (p.Ser1393=) c.4158C= (p.Ser1386=) c.3069C= (p.Ser1023=) c.4167C= (p.Ser1389=) n.834+4204C= | |
| 11 | g.70486099G>T | CA475700131 | SHANK2 | c.2427C>A (p.Ser809=) c.757+4204C>A (n.757+4204C>A) c.4194C>A (p.Ser1398=) c.1622C>A c.3057C>A (p.Ser1019=) c.2484C>A (p.Ser828=) c.2430C>A (p.Ser810=) c.718+4204C>A (n.718+4204C>A) c.2406C>A (p.Ser802=) c.755+4204C>A c.2031C>A (p.Ser677=) n.833+4204C>A c.4164C>A (p.Ser1388=) c.4206C>A (p.Ser1402=) c.4185C>A (p.Ser1395=) c.4179C>A (p.Ser1393=) c.4158C>A (p.Ser1386=) c.3069C>A (p.Ser1023=) c.4167C>A (p.Ser1389=) n.834+4204C>A | |
| 11 | g.70486100G>A | CA381683671 | SHANK2 | c.2426C>T (p.Ser809Phe) c.757+4203C>T (n.757+4203C>T) c.4193C>T (p.Ser1398Phe) c.1621C>T c.3056C>T (p.Ser1019Phe) c.2483C>T (p.Ser828Phe) c.2429C>T (p.Ser810Phe) c.718+4203C>T (n.718+4203C>T) c.2405C>T (p.Ser802Phe) c.755+4203C>T c.2030C>T (p.Ser677Phe) n.833+4203C>T c.4163C>T (p.Ser1388Phe) c.4205C>T (p.Ser1402Phe) c.4184C>T (p.Ser1395Phe) c.4178C>T (p.Ser1393Phe) c.4157C>T (p.Ser1386Phe) c.3068C>T (p.Ser1023Phe) c.4166C>T (p.Ser1389Phe) n.834+4203C>T | COSMIC COSMIC |
| 11 | g.70486100G>C | CA381683674 | SHANK2 | c.2426C>G (p.Ser809Cys) c.757+4203C>G (n.757+4203C>G) c.4193C>G (p.Ser1398Cys) c.1621C>G c.3056C>G (p.Ser1019Cys) c.2483C>G (p.Ser828Cys) c.2429C>G (p.Ser810Cys) c.718+4203C>G (n.718+4203C>G) c.2405C>G (p.Ser802Cys) c.755+4203C>G c.2030C>G (p.Ser677Cys) n.833+4203C>G c.4163C>G (p.Ser1388Cys) c.4205C>G (p.Ser1402Cys) c.4184C>G (p.Ser1395Cys) c.4178C>G (p.Ser1393Cys) c.4157C>G (p.Ser1386Cys) c.3068C>G (p.Ser1023Cys) c.4166C>G (p.Ser1389Cys) n.834+4203C>G | |
| 11 | g.70486100G= | CA1981074418 | SHANK2 | c.2426C= (p.Ser809=) c.757+4203C= (n.757+4203C=) c.4193C= (p.Ser1398=) c.1621C= c.3056C= (p.Ser1019=) c.2483C= (p.Ser828=) c.2429C= (p.Ser810=) c.718+4203C= (n.718+4203C=) c.2405C= (p.Ser802=) c.755+4203C= c.2030C= (p.Ser677=) n.833+4203C= c.4163C= (p.Ser1388=) c.4205C= (p.Ser1402=) c.4184C= (p.Ser1395=) c.4178C= (p.Ser1393=) c.4157C= (p.Ser1386=) c.3068C= (p.Ser1023=) c.4166C= (p.Ser1389=) n.834+4203C= | |
| 11 | g.70486100G>T | CA381683677 | SHANK2 | c.2426C>A (p.Ser809Tyr) c.757+4203C>A (n.757+4203C>A) c.4193C>A (p.Ser1398Tyr) c.1621C>A c.3056C>A (p.Ser1019Tyr) c.2483C>A (p.Ser828Tyr) c.2429C>A (p.Ser810Tyr) c.718+4203C>A (n.718+4203C>A) c.2405C>A (p.Ser802Tyr) c.755+4203C>A c.2030C>A (p.Ser677Tyr) n.833+4203C>A c.4163C>A (p.Ser1388Tyr) c.4205C>A (p.Ser1402Tyr) c.4184C>A (p.Ser1395Tyr) c.4178C>A (p.Ser1393Tyr) c.4157C>A (p.Ser1386Tyr) c.3068C>A (p.Ser1023Tyr) c.4166C>A (p.Ser1389Tyr) n.834+4203C>A | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.70486101A>C | CA381683681 | SHANK2 | c.2425T>G (p.Ser809Ala) c.757+4202T>G (n.757+4202T>G) c.4192T>G (p.Ser1398Ala) c.1620T>G c.3055T>G (p.Ser1019Ala) c.2482T>G (p.Ser828Ala) c.2428T>G (p.Ser810Ala) c.718+4202T>G (n.718+4202T>G) c.2404T>G (p.Ser802Ala) c.755+4202T>G c.2029T>G (p.Ser677Ala) n.833+4202T>G c.4162T>G (p.Ser1388Ala) c.4204T>G (p.Ser1402Ala) c.4183T>G (p.Ser1395Ala) c.4177T>G (p.Ser1393Ala) c.4156T>G (p.Ser1386Ala) c.3067T>G (p.Ser1023Ala) c.4165T>G (p.Ser1389Ala) n.834+4202T>G | |
| 11 | g.70486101A>G | CA381683684 | SHANK2 | c.2425T>C (p.Ser809Pro) c.757+4202T>C (n.757+4202T>C) c.4192T>C (p.Ser1398Pro) c.1620T>C c.3055T>C (p.Ser1019Pro) c.2482T>C (p.Ser828Pro) c.2428T>C (p.Ser810Pro) c.718+4202T>C (n.718+4202T>C) c.2404T>C (p.Ser802Pro) c.755+4202T>C c.2029T>C (p.Ser677Pro) n.833+4202T>C c.4162T>C (p.Ser1388Pro) c.4204T>C (p.Ser1402Pro) c.4183T>C (p.Ser1395Pro) c.4177T>C (p.Ser1393Pro) c.4156T>C (p.Ser1386Pro) c.3067T>C (p.Ser1023Pro) c.4165T>C (p.Ser1389Pro) n.834+4202T>C | |
| 11 | g.70486101A>T | CA381683687 | SHANK2 | c.2425T>A (p.Ser809Thr) c.757+4202T>A (n.757+4202T>A) c.4192T>A (p.Ser1398Thr) c.1620T>A c.3055T>A (p.Ser1019Thr) c.2482T>A (p.Ser828Thr) c.2428T>A (p.Ser810Thr) c.718+4202T>A (n.718+4202T>A) c.2404T>A (p.Ser802Thr) c.755+4202T>A c.2029T>A (p.Ser677Thr) n.833+4202T>A c.4162T>A (p.Ser1388Thr) c.4204T>A (p.Ser1402Thr) c.4183T>A (p.Ser1395Thr) c.4177T>A (p.Ser1393Thr) c.4156T>A (p.Ser1386Thr) c.3067T>A (p.Ser1023Thr) c.4165T>A (p.Ser1389Thr) n.834+4202T>A | |
| 11 | g.70486102T>A | CA475700132 | SHANK2 | c.2424A>T (p.Ala808=) c.757+4201A>T (n.757+4201A>T) c.4191A>T (p.Ala1397=) c.1619A>T c.3054A>T (p.Ala1018=) c.2481A>T (p.Ala827=) c.2427A>T (p.Ala809=) c.718+4201A>T (n.718+4201A>T) c.2403A>T (p.Ala801=) c.755+4201A>T c.2028A>T (p.Ala676=) n.833+4201A>T c.4161A>T (p.Ala1387=) c.4203A>T (p.Ala1401=) c.4182A>T (p.Ala1394=) c.4176A>T (p.Ala1392=) c.4155A>T (p.Ala1385=) c.3066A>T (p.Ala1022=) c.4164A>T (p.Ala1388=) n.834+4201A>T | |
| 11 | g.70486102T>C | CA475700133 | SHANK2 | c.2424A>G (p.Ala808=) c.757+4201A>G (n.757+4201A>G) c.4191A>G (p.Ala1397=) c.1619A>G c.3054A>G (p.Ala1018=) c.2481A>G (p.Ala827=) c.2427A>G (p.Ala809=) c.718+4201A>G (n.718+4201A>G) c.2403A>G (p.Ala801=) c.755+4201A>G c.2028A>G (p.Ala676=) n.833+4201A>G c.4161A>G (p.Ala1387=) c.4203A>G (p.Ala1401=) c.4182A>G (p.Ala1394=) c.4176A>G (p.Ala1392=) c.4155A>G (p.Ala1385=) c.3066A>G (p.Ala1022=) c.4164A>G (p.Ala1388=) n.834+4201A>G | |
| 11 | g.70486102T>G | CA475700134 | SHANK2 | c.2424A>C (p.Ala808=) c.757+4201A>C (n.757+4201A>C) c.4191A>C (p.Ala1397=) c.1619A>C c.3054A>C (p.Ala1018=) c.2481A>C (p.Ala827=) c.2427A>C (p.Ala809=) c.718+4201A>C (n.718+4201A>C) c.2403A>C (p.Ala801=) c.755+4201A>C c.2028A>C (p.Ala676=) n.833+4201A>C c.4161A>C (p.Ala1387=) c.4203A>C (p.Ala1401=) c.4182A>C (p.Ala1394=) c.4176A>C (p.Ala1392=) c.4155A>C (p.Ala1385=) c.3066A>C (p.Ala1022=) c.4164A>C (p.Ala1388=) n.834+4201A>C | |
| 11 | g.70486103G>A | CA381683695 | SHANK2 | c.2423C>T (p.Ala808Val) c.757+4200C>T (n.757+4200C>T) c.4190C>T (p.Ala1397Val) c.1618C>T c.3053C>T (p.Ala1018Val) c.2480C>T (p.Ala827Val) c.2426C>T (p.Ala809Val) c.718+4200C>T (n.718+4200C>T) c.2402C>T (p.Ala801Val) c.755+4200C>T c.2027C>T (p.Ala676Val) n.833+4200C>T c.4160C>T (p.Ala1387Val) c.4202C>T (p.Ala1401Val) c.4181C>T (p.Ala1394Val) c.4175C>T (p.Ala1392Val) c.4154C>T (p.Ala1385Val) c.3065C>T (p.Ala1022Val) c.4163C>T (p.Ala1388Val) n.834+4200C>T | |
| 11 | g.70486103G>C | CA381683693 | SHANK2 | c.2423C>G (p.Ala808Gly) c.757+4200C>G (n.757+4200C>G) c.4190C>G (p.Ala1397Gly) c.1618C>G c.3053C>G (p.Ala1018Gly) c.2480C>G (p.Ala827Gly) c.2426C>G (p.Ala809Gly) c.718+4200C>G (n.718+4200C>G) c.2402C>G (p.Ala801Gly) c.755+4200C>G c.2027C>G (p.Ala676Gly) n.833+4200C>G c.4160C>G (p.Ala1387Gly) c.4202C>G (p.Ala1401Gly) c.4181C>G (p.Ala1394Gly) c.4175C>G (p.Ala1392Gly) c.4154C>G (p.Ala1385Gly) c.3065C>G (p.Ala1022Gly) c.4163C>G (p.Ala1388Gly) n.834+4200C>G | |
| 11 | g.70486103G>T | CA381683690 | SHANK2 | c.2423C>A (p.Ala808Glu) c.757+4200C>A (n.757+4200C>A) c.4190C>A (p.Ala1397Glu) c.1618C>A c.3053C>A (p.Ala1018Glu) c.2480C>A (p.Ala827Glu) c.2426C>A (p.Ala809Glu) c.718+4200C>A (n.718+4200C>A) c.2402C>A (p.Ala801Glu) c.755+4200C>A c.2027C>A (p.Ala676Glu) n.833+4200C>A c.4160C>A (p.Ala1387Glu) c.4202C>A (p.Ala1401Glu) c.4181C>A (p.Ala1394Glu) c.4175C>A (p.Ala1392Glu) c.4154C>A (p.Ala1385Glu) c.3065C>A (p.Ala1022Glu) c.4163C>A (p.Ala1388Glu) n.834+4200C>A | |
| 11 | g.70486104C>A | CA381683698 | SHANK2 | c.2422G>T (p.Ala808Ser) c.757+4199G>T (n.757+4199G>T) c.4189G>T (p.Ala1397Ser) c.1617G>T c.3052G>T (p.Ala1018Ser) c.2479G>T (p.Ala827Ser) c.2425G>T (p.Ala809Ser) c.718+4199G>T (n.718+4199G>T) c.2401G>T (p.Ala801Ser) c.755+4199G>T c.2026G>T (p.Ala676Ser) n.833+4199G>T c.4159G>T (p.Ala1387Ser) c.4201G>T (p.Ala1401Ser) c.4180G>T (p.Ala1394Ser) c.4174G>T (p.Ala1392Ser) c.4153G>T (p.Ala1385Ser) c.3064G>T (p.Ala1022Ser) c.4162G>T (p.Ala1388Ser) n.834+4199G>T | |
| 11 | g.70486104C= | CA1981074423 | SHANK2 | c.2422G= (p.Ala808=) c.757+4199G= (n.757+4199G=) c.4189G= (p.Ala1397=) c.1617G= c.3052G= (p.Ala1018=) c.2479G= (p.Ala827=) c.2425G= (p.Ala809=) c.718+4199G= (n.718+4199G=) c.2401G= (p.Ala801=) c.755+4199G= c.2026G= (p.Ala676=) n.833+4199G= c.4159G= (p.Ala1387=) c.4201G= (p.Ala1401=) c.4180G= (p.Ala1394=) c.4174G= (p.Ala1392=) c.4153G= (p.Ala1385=) c.3064G= (p.Ala1022=) c.4162G= (p.Ala1388=) n.834+4199G= | |
| 11 | g.70486104C>G | CA381683700 | SHANK2 | c.2422G>C (p.Ala808Pro) c.757+4199G>C (n.757+4199G>C) c.4189G>C (p.Ala1397Pro) c.1617G>C c.3052G>C (p.Ala1018Pro) c.2479G>C (p.Ala827Pro) c.2425G>C (p.Ala809Pro) c.718+4199G>C (n.718+4199G>C) c.2401G>C (p.Ala801Pro) c.755+4199G>C c.2026G>C (p.Ala676Pro) n.833+4199G>C c.4159G>C (p.Ala1387Pro) c.4201G>C (p.Ala1401Pro) c.4180G>C (p.Ala1394Pro) c.4174G>C (p.Ala1392Pro) c.4153G>C (p.Ala1385Pro) c.3064G>C (p.Ala1022Pro) c.4162G>C (p.Ala1388Pro) n.834+4199G>C | |
| 11 | g.70486104C>T | CA223594133 | SHANK2 | c.2422G>A (p.Ala808Thr) c.757+4199G>A (n.757+4199G>A) c.4189G>A (p.Ala1397Thr) c.1617G>A c.3052G>A (p.Ala1018Thr) c.2479G>A (p.Ala827Thr) c.2425G>A (p.Ala809Thr) c.718+4199G>A (n.718+4199G>A) c.2401G>A (p.Ala801Thr) c.755+4199G>A c.2026G>A (p.Ala676Thr) n.833+4199G>A c.4159G>A (p.Ala1387Thr) c.4201G>A (p.Ala1401Thr) c.4180G>A (p.Ala1394Thr) c.4174G>A (p.Ala1392Thr) c.4153G>A (p.Ala1385Thr) c.3064G>A (p.Ala1022Thr) c.4162G>A (p.Ala1388Thr) n.834+4199G>A | dbSNP gnomAD v4 |
| 11 | g.70486105C>A | CA475700135 | SHANK2 | c.2421G>T (p.Leu807=) c.757+4198G>T (n.757+4198G>T) c.4188G>T (p.Leu1396=) c.1616G>T c.3051G>T (p.Leu1017=) c.2478G>T (p.Leu826=) c.2424G>T (p.Leu808=) c.718+4198G>T (n.718+4198G>T) c.2400G>T (p.Leu800=) c.755+4198G>T c.2025G>T (p.Leu675=) n.833+4198G>T c.4158G>T (p.Leu1386=) c.4200G>T (p.Leu1400=) c.4179G>T (p.Leu1393=) c.4173G>T (p.Leu1391=) c.4152G>T (p.Leu1384=) c.3063G>T (p.Leu1021=) c.4161G>T (p.Leu1387=) n.834+4198G>T | |
| 11 | g.70486105C>G | CA475700136 | SHANK2 | c.2421G>C (p.Leu807=) c.757+4198G>C (n.757+4198G>C) c.4188G>C (p.Leu1396=) c.1616G>C c.3051G>C (p.Leu1017=) c.2478G>C (p.Leu826=) c.2424G>C (p.Leu808=) c.718+4198G>C (n.718+4198G>C) c.2400G>C (p.Leu800=) c.755+4198G>C c.2025G>C (p.Leu675=) n.833+4198G>C c.4158G>C (p.Leu1386=) c.4200G>C (p.Leu1400=) c.4179G>C (p.Leu1393=) c.4173G>C (p.Leu1391=) c.4152G>C (p.Leu1384=) c.3063G>C (p.Leu1021=) c.4161G>C (p.Leu1387=) n.834+4198G>C | |
| 11 | g.70486105C>T | CA475700137 | SHANK2 | c.2421G>A (p.Leu807=) c.757+4198G>A (n.757+4198G>A) c.4188G>A (p.Leu1396=) c.1616G>A c.3051G>A (p.Leu1017=) c.2478G>A (p.Leu826=) c.2424G>A (p.Leu808=) c.718+4198G>A (n.718+4198G>A) c.2400G>A (p.Leu800=) c.755+4198G>A c.2025G>A (p.Leu675=) n.833+4198G>A c.4158G>A (p.Leu1386=) c.4200G>A (p.Leu1400=) c.4179G>A (p.Leu1393=) c.4173G>A (p.Leu1391=) c.4152G>A (p.Leu1384=) c.3063G>A (p.Leu1021=) c.4161G>A (p.Leu1387=) n.834+4198G>A | |
| 11 | g.70486106A>C | CA381683705 | SHANK2 | c.2420T>G (p.Leu807Arg) c.757+4197T>G (n.757+4197T>G) c.4187T>G (p.Leu1396Arg) c.1615T>G c.3050T>G (p.Leu1017Arg) c.2477T>G (p.Leu826Arg) c.2423T>G (p.Leu808Arg) c.718+4197T>G (n.718+4197T>G) c.2399T>G (p.Leu800Arg) c.755+4197T>G c.2024T>G (p.Leu675Arg) n.833+4197T>G c.4157T>G (p.Leu1386Arg) c.4199T>G (p.Leu1400Arg) c.4178T>G (p.Leu1393Arg) c.4172T>G (p.Leu1391Arg) c.4151T>G (p.Leu1384Arg) c.3062T>G (p.Leu1021Arg) c.4160T>G (p.Leu1387Arg) n.834+4197T>G | |
| 11 | g.70486106A>G | CA381683708 | SHANK2 | c.2420T>C (p.Leu807Pro) c.757+4197T>C (n.757+4197T>C) c.4187T>C (p.Leu1396Pro) c.1615T>C c.3050T>C (p.Leu1017Pro) c.2477T>C (p.Leu826Pro) c.2423T>C (p.Leu808Pro) c.718+4197T>C (n.718+4197T>C) c.2399T>C (p.Leu800Pro) c.755+4197T>C c.2024T>C (p.Leu675Pro) n.833+4197T>C c.4157T>C (p.Leu1386Pro) c.4199T>C (p.Leu1400Pro) c.4178T>C (p.Leu1393Pro) c.4172T>C (p.Leu1391Pro) c.4151T>C (p.Leu1384Pro) c.3062T>C (p.Leu1021Pro) c.4160T>C (p.Leu1387Pro) n.834+4197T>C | gnomAD v4 |
| 11 | g.70486106A>T | CA381683711 | SHANK2 | c.2420T>A (p.Leu807Gln) c.757+4197T>A (n.757+4197T>A) c.4187T>A (p.Leu1396Gln) c.1615T>A c.3050T>A (p.Leu1017Gln) c.2477T>A (p.Leu826Gln) c.2423T>A (p.Leu808Gln) c.718+4197T>A (n.718+4197T>A) c.2399T>A (p.Leu800Gln) c.755+4197T>A c.2024T>A (p.Leu675Gln) n.833+4197T>A c.4157T>A (p.Leu1386Gln) c.4199T>A (p.Leu1400Gln) c.4178T>A (p.Leu1393Gln) c.4172T>A (p.Leu1391Gln) c.4151T>A (p.Leu1384Gln) c.3062T>A (p.Leu1021Gln) c.4160T>A (p.Leu1387Gln) n.834+4197T>A | |
| 11 | g.70486107G>A | CA475700138 | SHANK2 | c.2419C>T (p.Leu807=) c.757+4196C>T (n.757+4196C>T) c.4186C>T (p.Leu1396=) c.1614C>T c.3049C>T (p.Leu1017=) c.2476C>T (p.Leu826=) c.2422C>T (p.Leu808=) c.718+4196C>T (n.718+4196C>T) c.2398C>T (p.Leu800=) c.755+4196C>T c.2023C>T (p.Leu675=) n.833+4196C>T c.4156C>T (p.Leu1386=) c.4198C>T (p.Leu1400=) c.4177C>T (p.Leu1393=) c.4171C>T (p.Leu1391=) c.4150C>T (p.Leu1384=) c.3061C>T (p.Leu1021=) c.4159C>T (p.Leu1387=) n.834+4196C>T | dbSNP |
| 11 | g.70486107G>C | CA381683714 | SHANK2 | c.2419C>G (p.Leu807Val) c.757+4196C>G (n.757+4196C>G) c.4186C>G (p.Leu1396Val) c.1614C>G c.3049C>G (p.Leu1017Val) c.2476C>G (p.Leu826Val) c.2422C>G (p.Leu808Val) c.718+4196C>G (n.718+4196C>G) c.2398C>G (p.Leu800Val) c.755+4196C>G c.2023C>G (p.Leu675Val) n.833+4196C>G c.4156C>G (p.Leu1386Val) c.4198C>G (p.Leu1400Val) c.4177C>G (p.Leu1393Val) c.4171C>G (p.Leu1391Val) c.4150C>G (p.Leu1384Val) c.3061C>G (p.Leu1021Val) c.4159C>G (p.Leu1387Val) n.834+4196C>G | |
| 11 | g.70486107G= | CA1981074427 | SHANK2 | c.2419C= (p.Leu807=) c.757+4196C= (n.757+4196C=) c.4186C= (p.Leu1396=) c.1614C= c.3049C= (p.Leu1017=) c.2476C= (p.Leu826=) c.2422C= (p.Leu808=) c.718+4196C= (n.718+4196C=) c.2398C= (p.Leu800=) c.755+4196C= c.2023C= (p.Leu675=) n.833+4196C= c.4156C= (p.Leu1386=) c.4198C= (p.Leu1400=) c.4177C= (p.Leu1393=) c.4171C= (p.Leu1391=) c.4150C= (p.Leu1384=) c.3061C= (p.Leu1021=) c.4159C= (p.Leu1387=) n.834+4196C= | |
| 11 | g.70486107G>T | CA381683715 | SHANK2 | c.2419C>A (p.Leu807Met) c.757+4196C>A (n.757+4196C>A) c.4186C>A (p.Leu1396Met) c.1614C>A c.3049C>A (p.Leu1017Met) c.2476C>A (p.Leu826Met) c.2422C>A (p.Leu808Met) c.718+4196C>A (n.718+4196C>A) c.2398C>A (p.Leu800Met) c.755+4196C>A c.2023C>A (p.Leu675Met) n.833+4196C>A c.4156C>A (p.Leu1386Met) c.4198C>A (p.Leu1400Met) c.4177C>A (p.Leu1393Met) c.4171C>A (p.Leu1391Met) c.4150C>A (p.Leu1384Met) c.3061C>A (p.Leu1021Met) c.4159C>A (p.Leu1387Met) n.834+4196C>A | |
| 11 | g.70486108A= | CA1981074430 | SHANK2 | c.2418T= (p.Pro806=) c.757+4195T= (n.757+4195T=) c.4185T= (p.Pro1395=) c.1613T= c.3048T= (p.Pro1016=) c.2475T= (p.Pro825=) c.2421T= (p.Pro807=) c.718+4195T= (n.718+4195T=) c.2397T= (p.Pro799=) c.755+4195T= c.2022T= (p.Pro674=) n.833+4195T= c.4155T= (p.Pro1385=) c.4197T= (p.Pro1399=) c.4176T= (p.Pro1392=) c.4170T= (p.Pro1390=) c.4149T= (p.Pro1383=) c.3060T= (p.Pro1020=) c.4158T= (p.Pro1386=) n.834+4195T= | |
| 11 | g.70486108A>C | CA6160959 | SHANK2 | c.2418T>G (p.Pro806=) c.757+4195T>G (n.757+4195T>G) c.4185T>G (p.Pro1395=) c.1613T>G c.3048T>G (p.Pro1016=) c.2475T>G (p.Pro825=) c.2421T>G (p.Pro807=) c.718+4195T>G (n.718+4195T>G) c.2397T>G (p.Pro799=) c.755+4195T>G c.2022T>G (p.Pro674=) n.833+4195T>G c.4155T>G (p.Pro1385=) c.4197T>G (p.Pro1399=) c.4176T>G (p.Pro1392=) c.4170T>G (p.Pro1390=) c.4149T>G (p.Pro1383=) c.3060T>G (p.Pro1020=) c.4158T>G (p.Pro1386=) n.834+4195T>G | dbSNP ExAC gnomAD v2 |
| 11 | g.70486108A>G | CA475700139 | SHANK2 | c.2418T>C (p.Pro806=) c.757+4195T>C (n.757+4195T>C) c.4185T>C (p.Pro1395=) c.1613T>C c.3048T>C (p.Pro1016=) c.2475T>C (p.Pro825=) c.2421T>C (p.Pro807=) c.718+4195T>C (n.718+4195T>C) c.2397T>C (p.Pro799=) c.755+4195T>C c.2022T>C (p.Pro674=) n.833+4195T>C c.4155T>C (p.Pro1385=) c.4197T>C (p.Pro1399=) c.4176T>C (p.Pro1392=) c.4170T>C (p.Pro1390=) c.4149T>C (p.Pro1383=) c.3060T>C (p.Pro1020=) c.4158T>C (p.Pro1386=) n.834+4195T>C | |
| 11 | g.70486108A>T | CA475700140 | SHANK2 | c.2418T>A (p.Pro806=) c.757+4195T>A (n.757+4195T>A) c.4185T>A (p.Pro1395=) c.1613T>A c.3048T>A (p.Pro1016=) c.2475T>A (p.Pro825=) c.2421T>A (p.Pro807=) c.718+4195T>A (n.718+4195T>A) c.2397T>A (p.Pro799=) c.755+4195T>A c.2022T>A (p.Pro674=) n.833+4195T>A c.4155T>A (p.Pro1385=) c.4197T>A (p.Pro1399=) c.4176T>A (p.Pro1392=) c.4170T>A (p.Pro1390=) c.4149T>A (p.Pro1383=) c.3060T>A (p.Pro1020=) c.4158T>A (p.Pro1386=) n.834+4195T>A | |
| 11 | g.70486109G>A | CA381683721 | SHANK2 | c.2417C>T (p.Pro806Leu) c.757+4194C>T (n.757+4194C>T) c.4184C>T (p.Pro1395Leu) c.1612C>T c.3047C>T (p.Pro1016Leu) c.2474C>T (p.Pro825Leu) c.2420C>T (p.Pro807Leu) c.718+4194C>T (n.718+4194C>T) c.2396C>T (p.Pro799Leu) c.755+4194C>T c.2021C>T (p.Pro674Leu) n.833+4194C>T c.4154C>T (p.Pro1385Leu) c.4196C>T (p.Pro1399Leu) c.4175C>T (p.Pro1392Leu) c.4169C>T (p.Pro1390Leu) c.4148C>T (p.Pro1383Leu) c.3059C>T (p.Pro1020Leu) c.4157C>T (p.Pro1386Leu) n.834+4194C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.70486109G>C | CA381683723 | SHANK2 | c.2417C>G (p.Pro806Arg) c.757+4194C>G (n.757+4194C>G) c.4184C>G (p.Pro1395Arg) c.1612C>G c.3047C>G (p.Pro1016Arg) c.2474C>G (p.Pro825Arg) c.2420C>G (p.Pro807Arg) c.718+4194C>G (n.718+4194C>G) c.2396C>G (p.Pro799Arg) c.755+4194C>G c.2021C>G (p.Pro674Arg) n.833+4194C>G c.4154C>G (p.Pro1385Arg) c.4196C>G (p.Pro1399Arg) c.4175C>G (p.Pro1392Arg) c.4169C>G (p.Pro1390Arg) c.4148C>G (p.Pro1383Arg) c.3059C>G (p.Pro1020Arg) c.4157C>G (p.Pro1386Arg) n.834+4194C>G | |
| 11 | g.70486109G= | CA1981074435 | SHANK2 | c.2417C= (p.Pro806=) c.757+4194C= (n.757+4194C=) c.4184C= (p.Pro1395=) c.1612C= c.3047C= (p.Pro1016=) c.2474C= (p.Pro825=) c.2420C= (p.Pro807=) c.718+4194C= (n.718+4194C=) c.2396C= (p.Pro799=) c.755+4194C= c.2021C= (p.Pro674=) n.833+4194C= c.4154C= (p.Pro1385=) c.4196C= (p.Pro1399=) c.4175C= (p.Pro1392=) c.4169C= (p.Pro1390=) c.4148C= (p.Pro1383=) c.3059C= (p.Pro1020=) c.4157C= (p.Pro1386=) n.834+4194C= | |
| 11 | g.70486109G>T | CA381683737 | SHANK2 | c.2417C>A (p.Pro806His) c.757+4194C>A (n.757+4194C>A) c.4184C>A (p.Pro1395His) c.1612C>A c.3047C>A (p.Pro1016His) c.2474C>A (p.Pro825His) c.2420C>A (p.Pro807His) c.718+4194C>A (n.718+4194C>A) c.2396C>A (p.Pro799His) c.755+4194C>A c.2021C>A (p.Pro674His) n.833+4194C>A c.4154C>A (p.Pro1385His) c.4196C>A (p.Pro1399His) c.4175C>A (p.Pro1392His) c.4169C>A (p.Pro1390His) c.4148C>A (p.Pro1383His) c.3059C>A (p.Pro1020His) c.4157C>A (p.Pro1386His) n.834+4194C>A | |
| 11 | g.70486110G>A | CA214646 | SHANK2 | c.2416C>T (p.Pro806Ser) c.757+4193C>T (n.757+4193C>T) c.4183C>T (p.Pro1395Ser) c.1611C>T c.3046C>T (p.Pro1016Ser) c.2473C>T (p.Pro825Ser) c.2419C>T (p.Pro807Ser) c.718+4193C>T (n.718+4193C>T) c.2395C>T (p.Pro799Ser) c.755+4193C>T c.2020C>T (p.Pro674Ser) n.833+4193C>T c.4153C>T (p.Pro1385Ser) c.4195C>T (p.Pro1399Ser) c.4174C>T (p.Pro1392Ser) c.4168C>T (p.Pro1390Ser) c.4147C>T (p.Pro1383Ser) c.3058C>T (p.Pro1020Ser) c.4156C>T (p.Pro1386Ser) n.834+4193C>T | ClinVar dbSNP |
| 11 | g.70486110G>C | CA6160960 | SHANK2 | c.2416C>G (p.Pro806Ala) c.757+4193C>G (n.757+4193C>G) c.4183C>G (p.Pro1395Ala) c.1611C>G c.3046C>G (p.Pro1016Ala) c.2473C>G (p.Pro825Ala) c.2419C>G (p.Pro807Ala) c.718+4193C>G (n.718+4193C>G) c.2395C>G (p.Pro799Ala) c.755+4193C>G c.2020C>G (p.Pro674Ala) n.833+4193C>G c.4153C>G (p.Pro1385Ala) c.4195C>G (p.Pro1399Ala) c.4174C>G (p.Pro1392Ala) c.4168C>G (p.Pro1390Ala) c.4147C>G (p.Pro1383Ala) c.3058C>G (p.Pro1020Ala) c.4156C>G (p.Pro1386Ala) n.834+4193C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.70486110G= | CA1981074442 | SHANK2 | c.2416C= (p.Pro806=) c.757+4193C= (n.757+4193C=) c.4183C= (p.Pro1395=) c.1611C= c.3046C= (p.Pro1016=) c.2473C= (p.Pro825=) c.2419C= (p.Pro807=) c.718+4193C= (n.718+4193C=) c.2395C= (p.Pro799=) c.755+4193C= c.2020C= (p.Pro674=) n.833+4193C= c.4153C= (p.Pro1385=) c.4195C= (p.Pro1399=) c.4174C= (p.Pro1392=) c.4168C= (p.Pro1390=) c.4147C= (p.Pro1383=) c.3058C= (p.Pro1020=) c.4156C= (p.Pro1386=) n.834+4193C= | |
| 11 | g.70486110G>T | CA381683741 | SHANK2 | c.2416C>A (p.Pro806Thr) c.757+4193C>A (n.757+4193C>A) c.4183C>A (p.Pro1395Thr) c.1611C>A c.3046C>A (p.Pro1016Thr) c.2473C>A (p.Pro825Thr) c.2419C>A (p.Pro807Thr) c.718+4193C>A (n.718+4193C>A) c.2395C>A (p.Pro799Thr) c.755+4193C>A c.2020C>A (p.Pro674Thr) n.833+4193C>A c.4153C>A (p.Pro1385Thr) c.4195C>A (p.Pro1399Thr) c.4174C>A (p.Pro1392Thr) c.4168C>A (p.Pro1390Thr) c.4147C>A (p.Pro1383Thr) c.3058C>A (p.Pro1020Thr) c.4156C>A (p.Pro1386Thr) n.834+4193C>A | |
| 11 | g.70486111G>A | CA475700141 | SHANK2 | c.2415C>T (p.Pro805=) c.757+4192C>T (n.757+4192C>T) c.4182C>T (p.Pro1394=) c.1610C>T c.3045C>T (p.Pro1015=) c.2472C>T (p.Pro824=) c.2418C>T (p.Pro806=) c.718+4192C>T (n.718+4192C>T) c.2394C>T (p.Pro798=) c.755+4192C>T c.2019C>T (p.Pro673=) n.833+4192C>T c.4152C>T (p.Pro1384=) c.4194C>T (p.Pro1398=) c.4173C>T (p.Pro1391=) c.4167C>T (p.Pro1389=) c.4146C>T (p.Pro1382=) c.3057C>T (p.Pro1019=) c.4155C>T (p.Pro1385=) n.834+4192C>T | dbSNP COSMIC COSMIC COSMIC |
| 11 | g.70486111G>C | CA475700142 | SHANK2 | c.2415C>G (p.Pro805=) c.757+4192C>G (n.757+4192C>G) c.4182C>G (p.Pro1394=) c.1610C>G c.3045C>G (p.Pro1015=) c.2472C>G (p.Pro824=) c.2418C>G (p.Pro806=) c.718+4192C>G (n.718+4192C>G) c.2394C>G (p.Pro798=) c.755+4192C>G c.2019C>G (p.Pro673=) n.833+4192C>G c.4152C>G (p.Pro1384=) c.4194C>G (p.Pro1398=) c.4173C>G (p.Pro1391=) c.4167C>G (p.Pro1389=) c.4146C>G (p.Pro1382=) c.3057C>G (p.Pro1019=) c.4155C>G (p.Pro1385=) n.834+4192C>G | |
| 11 | g.70486111G= | CA1981074447 | SHANK2 | c.2415C= (p.Pro805=) c.757+4192C= (n.757+4192C=) c.4182C= (p.Pro1394=) c.1610C= c.3045C= (p.Pro1015=) c.2472C= (p.Pro824=) c.2418C= (p.Pro806=) c.718+4192C= (n.718+4192C=) c.2394C= (p.Pro798=) c.755+4192C= c.2019C= (p.Pro673=) n.833+4192C= c.4152C= (p.Pro1384=) c.4194C= (p.Pro1398=) c.4173C= (p.Pro1391=) c.4167C= (p.Pro1389=) c.4146C= (p.Pro1382=) c.3057C= (p.Pro1019=) c.4155C= (p.Pro1385=) n.834+4192C= |