21-34003394-G-A |
SYNJ1 |
c.4750C>T |
p.Leu1584Leu |
Synonymous |
32/32 |
- |
11-85714439-T-C |
PICALM |
c.863A>G |
p.Lys288Arg |
Missense |
9/20 |
- |
X-19587262-C-T |
SH3KBP1 |
c.1343G>A |
p.Gly448Asp |
Missense |
13/18 |
- |
21-34002518-A-G |
SYNJ1 |
c.*787T>C |
- |
3-UTRSNV |
32/32 |
- |
X-19560172-G-A |
SH3KBP1 |
c.1763C>T |
p.Pro588Leu |
Missense |
16/18 |
- |
21-34067388-G-A |
SYNJ1 |
c.801C>T |
p.Ala267Ala |
Synonymous |
5/32 |
- |
21-34053914-A-G |
SYNJ1 |
c.1362T>C |
p.Pro454Pro |
Synonymous |
11/32 |
- |
21-34059306-C-T |
SYNJ1 |
c.1047G>A |
p.Met349Ile |
Missense |
8/32 |
- |
21-34003346-C-T |
SYNJ1 |
c.4798G>A |
p.Ala1600Thr |
Missense |
32/32 |
- |
X-19764525-G-C |
SH3KBP1 |
c.197C>G |
p.Thr66Ser |
Missense |
3/18 |
- |
X-19713774-G-A |
SH3KBP1 |
c.476C>T |
p.Ser159Leu |
Missense |
5/18 |
- |
21-34002476-T-C |
SYNJ1 |
c.*829A>G |
- |
3-UTRSNV |
32/32 |
- |
21-34053917-C-T |
SYNJ1 |
c.1359G>A |
p.Lys453Lys |
Synonymous |
11/32 |
- |
11-85701307-T-C |
PICALM |
c.1394A>G |
p.His465Arg |
Missense |
13/20 |
- |
21-34038254-A-T |
SYNJ1 |
c.2261T>A |
p.Met754Lys |
Missense |
17/32 |
- |
21-34099114-G-C |
SYNJ1 |
c.210C>G |
p.Leu70Leu |
Synonymous |
2/32 |
- |
21-34067480-G-T |
SYNJ1 |
c.709C>A |
p.Gln237Lys |
Missense |
5/32 |
- |
21-34001638-C-A |
SYNJ1 |
c.*1667G>T |
- |
3-UTRSNV |
32/32 |
- |
21-34053853-T-A |
SYNJ1 |
c.1423A>T |
p.Ile475Phe |
Missense |
11/32 |
- |
21-34012088-G-A |
SYNJ1 |
c.3707C>T |
p.Thr1236Met |
Missense |
30/32 |
- |
21-34072327-G-C |
SYNJ1 |
c.417C>G |
p.Ser139Ser |
Synonymous |
4/32 |
- |
21-34072327-G-A |
SYNJ1 |
c.417C>T |
p.Ser139Ser |
Synonymous |
4/32 |
- |
11-85685820-T-C |
PICALM |
c.1875A>G |
p.Gln625Gln |
Synonymous |
19/20 |
- |
21-34012041-G-C |
SYNJ1 |
c.3754C>G |
p.Arg1252Gly |
Missense |
30/32 |
- |
21-34011299-T-A |
SYNJ1 |
c.3951A>T |
p.Pro1317Pro |
Synonymous |
31/32 |
- |
11-85707955-T-C |
PICALM |
c.1172A>G |
p.Asn391Ser |
Missense |
12/20 |
- |
X-19587225-G-T |
SH3KBP1 |
c.1380C>A |
p.Asp460Glu |
Missense |
13/18 |
- |
21-34072218-T-C |
SYNJ1 |
c.526A>G |
p.Ile176Val |
Missense |
4/32 |
- |
X-19713801-T-C |
SH3KBP1 |
c.449A>G |
p.Asn150Ser |
Missense |
5/18 |
- |
21-34003990-G-A |
SYNJ1 |
c.4154C>T |
p.Pro1385Leu |
Missense |
32/32 |
- |
11-85737366-A-G |
PICALM |
c.317T>C |
p.Leu106Ser |
Missense |
3/20 |
- |
X-19554493-C-T |
SH3KBP1 |
c.*42G>A |
- |
3-UTRSNV |
18/18 |
- |
21-34072218-T-A |
SYNJ1 |
c.526A>T |
p.Ile176Phe |
Missense |
4/32 |
- |
21-34011987-A-G |
SYNJ1 |
c.3808T>C |
p.Ser1270Pro |
Missense |
30/32 |
- |
21-34001670-A-T |
SYNJ1 |
c.*1635T>A |
- |
3-UTRSNV |
32/32 |
- |
11-85701350-T-C |
PICALM |
c.1351A>G |
p.Ile451Val |
Missense |
13/20 |
- |
11-85692991-G-T |
PICALM |
c.1572C>A |
p.Asn524Lys |
Missense |
15/20 |
- |
11-85701350-T-G |
PICALM |
c.1351A>C |
p.Ile451Leu |
Missense |
13/20 |
- |
11-85733410-C-G |
PICALM |
c.452G>C |
p.Gly151Ala |
Missense |
4/20 |
- |
X-19555849-G-A |
SH3KBP1 |
c.1942C>T |
p.Arg648Trp |
Missense |
17/18 |
- |
11-85711730-A-G |
PICALM |
c.1110T>C |
p.Thr370Thr |
Synonymous |
11/20 |
- |
X-19554315-G-A |
SH3KBP1 |
c.*220C>T |
- |
3-UTRSNV |
18/18 |
- |
X-19554315-G-C |
SH3KBP1 |
c.*220C>G |
- |
3-UTRSNV |
18/18 |
- |
21-34003803-G-T |
SYNJ1 |
c.4341C>A |
p.Asp1447Glu |
Missense |
32/32 |
- |
11-85711729-C-G |
PICALM |
c.1111G>C |
p.Ala371Pro |
Missense |
11/20 |
- |
X-19854277-C-T |
SH3KBP1 |
c.128G>A |
p.Gly43Asp |
Missense |
2/18 |
- |
21-34038343-G-T |
SYNJ1 |
c.2172C>A |
p.Phe724Leu |
Missense |
17/32 |
- |
21-34038343-G-A |
SYNJ1 |
c.2172C>T |
p.Phe724Phe |
Synonymous |
17/32 |
- |
21-34053902-A-C |
SYNJ1 |
c.1374T>G |
p.Thr458Thr |
Synonymous |
11/32 |
- |
21-34067370-T-C |
SYNJ1 |
c.819A>G |
p.Glu273Glu |
Synonymous |
5/32 |
- |
11-85742546-T-C |
PICALM |
c.238A>G |
p.Ile80Val |
Missense |
2/20 |
- |
21-34018769-C-A |
SYNJ1 |
c.3298G>T |
p.Val1100Leu |
Missense |
24/32 |
- |
21-34015746-G-A |
SYNJ1 |
c.3569C>T |
p.Pro1190Leu |
Missense |
27/32 |
- |
21-34053799-G-A |
SYNJ1 |
c.1470+7C>T |
- |
IntronicSNV |
- |
11/31 |
21-34058130-C-A |
SYNJ1 |
c.1163G>T |
p.Ser388Ile |
Missense |
9/32 |
- |
21-34030022-C-T |
SYNJ1 |
c.2578+4G>A |
- |
IntronicSNV |
- |
19/31 |
X-19560276-C-T |
SH3KBP1 |
c.1659G>A |
p.Pro553Pro |
Synonymous |
16/18 |
- |
21-34037333-T-C |
SYNJ1 |
c.2311A>G |
p.Asn771Asp |
Missense |
18/32 |
- |
21-34012083-G-A |
SYNJ1 |
c.3712C>T |
p.Pro1238Ser |
Missense |
30/32 |
- |
X-19626168-A-G |
SH3KBP1 |
c.898-5T>C |
- |
IntronicSNV |
- |
8/17 |
11-85742666-A-AA |
PICALM |
c.131-8_131-8dup |
- |
IntronicInsertion |
- |
1/19 |
21-34018893-A-G |
SYNJ1 |
c.3174T>C |
p.Ser1058Ser |
Synonymous |
24/32 |
- |
21-34029434-C-T |
SYNJ1 |
c.2579-4G>A |
- |
IntronicSNV |
- |
19/31 |
21-34018062-C-T |
SYNJ1 |
c.3402G>A |
p.Pro1134Pro |
Synonymous |
25/32 |
- |
21-34002611-A-C |
SYNJ1 |
c.*694T>G |
- |
3-UTRSNV |
32/32 |
- |
X-19553160-C-T |
SH3KBP1 |
c.*1375G>A |
- |
3-UTRSNV |
18/18 |
- |
21-34067531-G-A |
SYNJ1 |
c.658C>T |
p.Arg220Cys |
Missense |
5/32 |
- |
21-34003624-T-G |
SYNJ1 |
c.4520A>C |
p.Gln1507Pro |
Missense |
32/32 |
- |
21-34003274-G-C |
SYNJ1 |
c.*31C>G |
- |
3-UTRSNV |
32/32 |
- |
X-19701960-T-C |
SH3KBP1 |
c.707A>G |
p.Asp236Gly |
Missense |
6/18 |
- |
11-85694990-G-A |
PICALM |
c.1435C>T |
p.Pro479Ser |
Missense |
14/20 |
- |
21-34017298-G-A |
SYNJ1 |
c.3527C>T |
p.Pro1176Leu |
Missense |
26/32 |
- |
21-34022646-C-T |
SYNJ1 |
c.3002G>A |
p.Arg1001Gln |
Missense |
23/32 |
- |
21-34003249-T-A |
SYNJ1 |
c.*56A>T |
- |
3-UTRSNV |
32/32 |
- |
21-34018897-T-C |
SYNJ1 |
c.3170A>G |
p.Tyr1057Cys |
Missense |
24/32 |
- |
21-34003562-C-T |
SYNJ1 |
c.4582G>A |
p.Asp1528Asn |
Missense |
32/32 |
- |
11-85692958-T-G |
PICALM |
c.1605A>C |
p.Leu535Phe |
Missense |
15/20 |
- |
21-34018905-A-G |
SYNJ1 |
c.3162T>C |
p.Val1054Val |
Synonymous |
24/32 |
- |
X-19854279-G-A |
SH3KBP1 |
c.126C>T |
p.Asn42Asn |
Synonymous |
2/18 |
- |
21-34012026-T-C |
SYNJ1 |
c.3769A>G |
p.Arg1257Gly |
Missense |
30/32 |
- |
21-34067424-A-C |
SYNJ1 |
c.765T>G |
p.Phe255Leu |
Missense |
5/32 |
- |
21-34018023-C-T |
SYNJ1 |
c.3441G>A |
p.Pro1147Pro |
Synonymous |
25/32 |
- |
11-85733477-T-C |
PICALM |
c.385A>G |
p.Arg129Gly |
Missense |
4/20 |
- |
21-34001813-T-C |
SYNJ1 |
c.*1492A>G |
- |
3-UTRSNV |
32/32 |
- |
21-34022527-C-G |
SYNJ1 |
c.3121G>C |
p.Asp1041His |
Missense |
23/32 |
- |
11-85669874-A-G |
PICALM |
c.*215T>C |
- |
3-UTRSNV |
20/20 |
- |
21-34011344-A-C |
SYNJ1 |
c.3906T>G |
p.Pro1302Pro |
Synonymous |
31/32 |
- |
21-34003790-G-A |
SYNJ1 |
c.4354C>T |
p.Pro1452Ser |
Missense |
32/32 |
- |
21-34007201-G-C |
SYNJ1 |
c.4033-3090C>G |
- |
IntronicSNV |
- |
31/31 |
21-34003631-C-G |
SYNJ1 |
c.4513G>C |
p.Asp1505His |
Missense |
32/32 |
- |
11-85687732-T-C |
PICALM |
c.1780-7A>G |
- |
IntronicSNV |
- |
17/19 |
21-34059372-T-C |
SYNJ1 |
c.981A>G |
p.Thr327Thr |
Synonymous |
8/32 |
- |
21-34058130-C-G |
SYNJ1 |
c.1163G>C |
p.Ser388Thr |
Missense |
9/32 |
- |
X-19817783-T-C |
SH3KBP1 |
c.162+36460A>G |
- |
IntronicSNV |
- |
2/17 |
21-34030162-T-C |
SYNJ1 |
c.2442A>G |
p.Glu814Glu |
Synonymous |
19/32 |
- |
11-85692207-C-A |
PICALM |
c.1744G>T |
p.Val582Phe |
Missense |
17/20 |
- |
11-85692207-C-T |
PICALM |
c.1744G>A |
p.Val582Ile |
Missense |
17/20 |
- |
21-34001242-G-GG |
SYNJ1 |
c.*2063_*2063dup |
- |
3-UTRInsertion |
32/32 |
- |
21-34030114-G-A |
SYNJ1 |
c.2490C>T |
p.Asp830Asp |
Synonymous |
19/32 |
- |
11-85711773-G-A |
PICALM |
c.1067C>T |
p.Thr356Ile |
Missense |
11/20 |
- |
21-34018797-G-A |
SYNJ1 |
c.3270C>T |
p.Cys1090Cys |
Synonymous |
24/32 |
- |
X-19606877-G-A |
SH3KBP1 |
c.1182C>T |
p.Ser394Ser |
Synonymous |
12/18 |
- |
21-34074317-T-C |
SYNJ1 |
c.282A>G |
p.Lys94Lys |
Synonymous |
3/32 |
- |
21-34058070-C-T |
SYNJ1 |
c.1223G>A |
p.Ser408Asn |
Missense |
9/32 |
- |
11-85670096-A-C |
PICALM |
c.1952T>G |
p.Phe651Cys |
Missense |
20/20 |
- |
21-34003521-G-T |
SYNJ1 |
c.4623C>A |
p.Asp1541Glu |
Missense |
32/32 |
- |
21-34003521-G-C |
SYNJ1 |
c.4623C>G |
p.Asp1541Glu |
Missense |
32/32 |
- |
11-85695020-A-G |
PICALM |
c.1409-4T>C |
- |
IntronicSNV |
- |
13/19 |
21-34003556-C-T |
SYNJ1 |
c.4588G>A |
p.Gly1530Ser |
Missense |
32/32 |
- |
21-34014273-C-T |
SYNJ1 |
c.3638G>A |
p.Arg1213His |
Missense |
29/32 |
- |
14-73673138-G-T |
PSEN1 |
c.913G>T |
p.Ala305Ser |
Missense |
9/12 |
- |
21-34018866-C-A |
SYNJ1 |
c.3201G>T |
p.Gln1067His |
Missense |
24/32 |
- |
21-34048637-T-G |
SYNJ1 |
c.1651+5A>C |
- |
IntronicSNV |
- |
13/31 |
21-34048637-T-C |
SYNJ1 |
c.1651+5A>G |
- |
IntronicSNV |
- |
13/31 |
X-19568125-T-C |
SH3KBP1 |
c.1461A>G |
p.Thr487Thr |
Synonymous |
14/18 |
- |
X-19587241-G-A |
SH3KBP1 |
c.1364C>T |
p.Ser455Leu |
Missense |
13/18 |
- |
21-34011415-G-A |
SYNJ1 |
c.3835C>T |
p.Pro1279Ser |
Missense |
31/32 |
- |
11-85695000-T-C |
PICALM |
c.1425A>G |
p.Pro475Pro |
Synonymous |
14/20 |
- |
21-34029345-A-G |
SYNJ1 |
c.2664T>C |
p.Tyr888Tyr |
Synonymous |
20/32 |
- |
21-34038790-G-A |
SYNJ1 |
c.2022C>T |
p.Gly674Gly |
Synonymous |
16/32 |
- |
21-34003930-A-G |
SYNJ1 |
c.4214T>C |
p.Val1405Ala |
Missense |
32/32 |
- |
11-85733423-T-C |
PICALM |
c.439A>G |
p.Lys147Glu |
Missense |
4/20 |
- |
X-19606804-G-A |
SH3KBP1 |
c.1255C>T |
p.Pro419Ser |
Missense |
12/18 |
- |
X-19606785-G-A |
SH3KBP1 |
c.1274C>T |
p.Pro425Leu |
Missense |
12/18 |
- |
X-19553977-G-A |
SH3KBP1 |
c.*558C>T |
- |
3-UTRSNV |
18/18 |
- |
21-34003631-C-T |
SYNJ1 |
c.4513G>A |
p.Asp1505Asn |
Missense |
32/32 |
- |
11-85711728-G-A |
PICALM |
c.1112C>T |
p.Ala371Val |
Missense |
11/20 |
- |
21-34051073-C-T |
SYNJ1 |
c.1509G>A |
p.Gln503Gln |
Synonymous |
12/32 |
- |
21-34099108-G-C |
SYNJ1 |
c.216C>G |
p.Phe72Leu |
Missense |
2/32 |
- |
21-34003375-C-T |
SYNJ1 |
c.4769G>A |
p.Ser1590Asn |
Missense |
32/32 |
- |
X-19606822-T-C |
SH3KBP1 |
c.1237A>G |
p.Arg413Gly |
Missense |
12/18 |
- |
21-34037362-T-G |
SYNJ1 |
c.2282A>C |
p.His761Pro |
Missense |
18/32 |
- |
21-34037362-T-C |
SYNJ1 |
c.2282A>G |
p.His761Arg |
Missense |
18/32 |
- |
21-34018895-T-C |
SYNJ1 |
c.3172A>G |
p.Ser1058Gly |
Missense |
24/32 |
- |
11-85725957-C-T |
PICALM |
c.502G>A |
p.Val168Ile |
Missense |
5/20 |
- |
11-85725957-C-G |
PICALM |
c.502G>C |
p.Val168Leu |
Missense |
5/20 |
- |
21-34053905-C-G |
SYNJ1 |
c.1371G>C |
p.Val457Val |
Synonymous |
11/32 |
- |
21-34018893-A-C |
SYNJ1 |
c.3174T>G |
p.Ser1058Arg |
Missense |
24/32 |
- |
11-85779868-A-G |
PICALM |
c.1-46T>C |
- |
5-UTRSNV |
1/20 |
- |
X-19560317-A-G |
SH3KBP1 |
c.1624-6T>C |
- |
IntronicSNV |
- |
15/17 |
21-34003309-C-G |
SYNJ1 |
c.4835G>C |
p.Arg1612Thr |
Missense |
32/32 |
- |
11-85779831-C-T |
PICALM |
c.1-9G>A |
- |
5-UTRSNV |
1/20 |
- |
21-34003309-C-T |
SYNJ1 |
c.4835G>A |
p.Arg1612Lys |
Missense |
32/32 |
- |
21-34029077-T-C |
SYNJ1 |
c.2832A>G |
p.Pro944Pro |
Synonymous |
21/32 |
- |
11-85712153-T-A |
PICALM |
c.942A>T |
p.Leu314Leu |
Synonymous |
10/20 |
- |
X-19725073-C-T |
SH3KBP1 |
c.316G>A |
p.Ala106Thr |
Missense |
4/18 |
- |
11-85707928-G-C |
PICALM |
c.1199C>G |
p.Thr400Ser |
Missense |
12/20 |
- |
21-34018770-A-G |
SYNJ1 |
c.3297T>C |
p.Pro1099Pro |
Synonymous |
24/32 |
- |
11-85707951-A-G |
PICALM |
c.1176T>C |
p.Asp392Asp |
Synonymous |
12/20 |
- |
X-19560105-C-G |
SH3KBP1 |
c.1830G>C |
p.Glu610Asp |
Missense |
16/18 |
- |
21-34018806-A-C |
SYNJ1 |
c.3261T>G |
p.Thr1087Thr |
Synonymous |
24/32 |
- |
21-34056355-C-T |
SYNJ1 |
c.1310G>A |
p.Gly437Asp |
Missense |
10/32 |
- |
X-19560105-C-T |
SH3KBP1 |
c.1830G>A |
p.Glu610Glu |
Synonymous |
16/18 |
- |
X-19560215-G-C |
SH3KBP1 |
c.1720C>G |
p.Leu574Val |
Missense |
16/18 |
- |
X-19552310-T-C |
SH3KBP1 |
c.*2225A>G |
- |
3-UTRSNV |
18/18 |
- |
21-34022499-A-G |
SYNJ1 |
c.3149T>C |
p.Met1050Thr |
Missense |
23/32 |
- |
X-19560093-T-G |
SH3KBP1 |
c.1842A>C |
p.Thr614Thr |
Synonymous |
16/18 |
- |
11-85692210-T-C |
PICALM |
c.1741A>G |
p.Lys581Glu |
Missense |
17/20 |
- |
21-34003901-T-C |
SYNJ1 |
c.4243A>G |
p.Met1415Val |
Missense |
32/32 |
- |
21-34045820-C-G |
SYNJ1 |
c.1673G>C |
p.Ser558Thr |
Missense |
14/32 |
- |
X-19764504-G-A |
SH3KBP1 |
c.218C>T |
p.Pro73Leu |
Missense |
3/18 |
- |
11-85722087-G-T |
PICALM |
c.751C>A |
p.Leu251Ile |
Missense |
7/20 |
- |
21-34053853-T-C |
SYNJ1 |
c.1423A>G |
p.Ile475Val |
Missense |
11/32 |
- |
21-34003426-G-A |
SYNJ1 |
c.4718C>T |
p.Pro1573Leu |
Missense |
32/32 |
- |
21-34025592-C-T |
SYNJ1 |
c.2991+6G>A |
- |
IntronicSNV |
- |
22/31 |
21-34029139-C-T |
SYNJ1 |
c.2770G>A |
p.Val924Ile |
Missense |
21/32 |
- |
21-34003314-T-C |
SYNJ1 |
c.4830A>G |
p.Thr1610Thr |
Synonymous |
32/32 |
- |
11-85685804-T-C |
PICALM |
c.1891A>G |
p.Ser631Gly |
Missense |
19/20 |
- |
21-34029367-G-A |
SYNJ1 |
c.2642C>T |
p.Thr881Ile |
Missense |
20/32 |
- |
21-34011221-C-T |
SYNJ1 |
c.4029G>A |
p.Pro1343Pro |
Synonymous |
31/32 |
- |
X-19713859-C-A |
SH3KBP1 |
c.391G>T |
p.Val131Leu |
Missense |
5/18 |
- |
21-34007199-G-A |
SYNJ1 |
c.4033-3088C>T |
- |
IntronicSNV |
- |
31/31 |
11-85670054-G-A |
PICALM |
c.*35C>T |
- |
3-UTRSNV |
20/20 |
- |
21-34003476-T-C |
SYNJ1 |
c.4668A>G |
p.Thr1556Thr |
Synonymous |
32/32 |
- |
21-34018062-C-A |
SYNJ1 |
c.3402G>T |
p.Pro1134Pro |
Synonymous |
25/32 |
- |
X-19553106-T-C |
SH3KBP1 |
c.*1429A>G |
- |
3-UTRSNV |
18/18 |
- |
11-85723388-C-T |
PICALM |
c.594G>A |
p.Met198Ile |
Missense |
6/20 |
- |
21-34029195-A-G |
SYNJ1 |
c.2714T>C |
p.Ile905Thr |
Missense |
21/32 |
- |
11-85669878-C-CC |
PICALM |
c.*211_*211dup |
- |
3-UTRInsertion |
20/20 |
- |
11-85725987-T-C |
PICALM |
c.472A>G |
p.Thr158Ala |
Missense |
5/20 |
- |
11-85725987-T-G |
PICALM |
c.472A>C |
p.Thr158Pro |
Missense |
5/20 |
- |
21-34011219-T-C |
SYNJ1 |
c.4031A>G |
p.Gln1344Arg |
Missense |
31/32 |
- |
X-19725106-G-A |
SH3KBP1 |
c.287-4C>T |
- |
IntronicSNV |
- |
3/17 |
11-85722168-C-G |
PICALM |
c.670G>C |
p.Asp224His |
Missense |
7/20 |
- |
11-85695016-C-G |
PICALM |
c.1409G>C |
p.Gly470Ala |
Missense |
14/20 |
- |
21-34072159-A-G |
SYNJ1 |
c.585T>C |
p.Asn195Asn |
Synonymous |
4/32 |
- |
11-85692816-G-A |
PICALM |
c.1651C>T |
p.Leu551Phe |
Missense |
16/20 |
- |
21-34003651-T-C |
SYNJ1 |
c.4493A>G |
p.Asp1498Gly |
Missense |
32/32 |
- |
11-85692196-T-C |
PICALM |
c.1755A>G |
p.Thr585Thr |
Synonymous |
17/20 |
- |
X-19764471-A-G |
SH3KBP1 |
c.251T>C |
p.Leu84Pro |
Missense |
3/18 |
- |
X-19610249-T-C |
SH3KBP1 |
c.1074A>G |
p.Lys358Lys |
Synonymous |
11/18 |
- |
21-34003646-A-G |
SYNJ1 |
c.4498T>C |
p.Phe1500Leu |
Missense |
32/32 |
- |
11-85718608-C-T |
PICALM |
c.784G>A |
p.Gly262Ser |
Missense |
8/20 |
- |
11-85685839-C-T |
PICALM |
c.1856G>A |
p.Ser619Asn |
Missense |
19/20 |
- |
X-19553823-A-T |
SH3KBP1 |
c.*712T>A |
- |
3-UTRSNV |
18/18 |
- |
21-34011381-G-C |
SYNJ1 |
c.3869C>G |
p.Ser1290Cys |
Missense |
31/32 |
- |
11-85711739-C-T |
PICALM |
c.1101G>A |
p.Gly367Gly |
Synonymous |
11/20 |
- |
11-85723384-G-T |
PICALM |
c.598C>A |
p.Leu200Met |
Missense |
6/20 |
- |
21-34029423-A-C |
SYNJ1 |
c.2586T>G |
p.Asp862Glu |
Missense |
20/32 |
- |
11-85687680-T-G |
PICALM |
c.1825A>C |
p.Ile609Leu |
Missense |
18/20 |
- |
11-85742613-T-C |
PICALM |
c.171A>G |
p.Pro57Pro |
Synonymous |
2/20 |
- |
21-34011345-G-A |
SYNJ1 |
c.3905C>T |
p.Pro1302Leu |
Missense |
31/32 |
- |
21-34066544-C-T |
SYNJ1 |
c.900G>A |
p.Gly300Gly |
Synonymous |
6/32 |
- |
21-34072222-A-T |
SYNJ1 |
c.522T>A |
p.Ser174Ser |
Synonymous |
4/32 |
- |
X-19553313-G-A |
SH3KBP1 |
c.*1222C>T |
- |
3-UTRSNV |
18/18 |
- |
21-34003261-T-C |
SYNJ1 |
c.*44A>G |
- |
3-UTRSNV |
32/32 |
- |
21-34001808-A-G |
SYNJ1 |
c.*1497T>C |
- |
3-UTRSNV |
32/32 |
- |
21-34066531-C-G |
SYNJ1 |
c.906+7G>C |
- |
IntronicSNV |
- |
6/31 |
21-34056436-C-G |
SYNJ1 |
c.1236-7G>C |
- |
IntronicSNV |
- |
9/31 |
21-34053918-T-C |
SYNJ1 |
c.1358A>G |
p.Lys453Arg |
Missense |
11/32 |
- |
21-34099146-T-C |
SYNJ1 |
c.178A>G |
p.Ile60Val |
Missense |
2/32 |
- |
11-85718611-T-C |
PICALM |
c.781A>G |
p.Arg261Gly |
Missense |
8/20 |
- |
21-34017985-G-A |
SYNJ1 |
c.3479C>T |
p.Ala1160Val |
Missense |
25/32 |
- |
X-19606803-G-T |
SH3KBP1 |
c.1256C>A |
p.Pro419Gln |
Missense |
12/18 |
- |
11-85692806-C-A |
PICALM |
c.1661G>T |
p.Gly554Val |
Missense |
16/20 |
- |
X-19554093-C-T |
SH3KBP1 |
c.*442G>A |
- |
3-UTRSNV |
18/18 |
- |
21-34056381-T-C |
SYNJ1 |
c.1284A>G |
p.Arg428Arg |
Synonymous |
10/32 |
- |
X-19564163-G-T |
SH3KBP1 |
c.1500C>A |
p.Ser500Ser |
Synonymous |
15/18 |
- |
21-34029006-A-G |
SYNJ1 |
c.2903T>C |
p.Ile968Thr |
Missense |
21/32 |
- |
21-34001981-G-A |
SYNJ1 |
c.*1324C>T |
- |
3-UTRSNV |
32/32 |
- |
21-34038364-G-A |
SYNJ1 |
c.2151C>T |
p.Phe717Phe |
Synonymous |
17/32 |
- |
21-34003881-C-A |
SYNJ1 |
c.4263G>T |
p.Arg1421Arg |
Synonymous |
32/32 |
- |
X-19713827-G-A |
SH3KBP1 |
c.423C>T |
p.Asn141Asn |
Synonymous |
5/18 |
- |
21-34003881-C-T |
SYNJ1 |
c.4263G>A |
p.Arg1421Arg |
Synonymous |
32/32 |
- |
X-19564094-C-T |
SH3KBP1 |
c.1569G>A |
p.Ala523Ala |
Synonymous |
15/18 |
- |
21-34099211-C-G |
SYNJ1 |
c.113G>C |
p.Arg38Thr |
Missense |
2/32 |
- |
21-34037370-T-A |
SYNJ1 |
c.2274A>T |
p.Leu758Leu |
Synonymous |
18/32 |
- |
21-34074305-T-C |
SYNJ1 |
c.294A>G |
p.Ala98Ala |
Synonymous |
3/32 |
- |
11-85692926-T-C |
PICALM |
c.1637A>G |
p.Asn546Ser |
Missense |
15/20 |
- |
X-19554239-T-C |
SH3KBP1 |
c.*296A>G |
- |
3-UTRSNV |
18/18 |
- |
21-34003331-G-A |
SYNJ1 |
c.4813C>T |
p.Pro1605Ser |
Missense |
32/32 |
- |
X-19560171-C-T |
SH3KBP1 |
c.1764G>A |
p.Pro588Pro |
Synonymous |
16/18 |
- |
11-85779876-C-A |
PICALM |
c.1-54G>T |
- |
5-UTRSNV |
1/20 |
- |
11-85695023-A-G |
PICALM |
c.1409-7T>C |
- |
IntronicSNV |
- |
13/19 |
21-34025612-G-A |
SYNJ1 |
c.2977C>T |
p.Leu993Leu |
Synonymous |
22/32 |
- |
11-85685824-G-A |
PICALM |
c.1871C>T |
p.Thr624Met |
Missense |
19/20 |
- |
21-34051063-A-C |
SYNJ1 |
c.1519T>G |
p.Phe507Val |
Missense |
12/32 |
- |
11-85669872-T-C |
PICALM |
c.*217A>G |
- |
3-UTRSNV |
20/20 |
- |
21-34003331-G-T |
SYNJ1 |
c.4813C>A |
p.Pro1605Thr |
Missense |
32/32 |
- |
X-19560171-C-G |
SH3KBP1 |
c.1764G>C |
p.Pro588Pro |
Synonymous |
16/18 |
- |
11-85712159-A-G |
PICALM |
c.936T>C |
p.Thr312Thr |
Synonymous |
10/20 |
- |
21-34003298-C-A |
SYNJ1 |
c.*7G>T |
- |
3-UTRSNV |
32/32 |
- |
21-34067462-T-C |
SYNJ1 |
c.727A>G |
p.Ile243Val |
Missense |
5/32 |
- |
11-85687706-T-C |
PICALM |
c.1799A>G |
p.Tyr600Cys |
Missense |
18/20 |
- |
11-85687706-T-A |
PICALM |
c.1799A>T |
p.Tyr600Phe |
Missense |
18/20 |
- |
11-85687706-T-G |
PICALM |
c.1799A>C |
p.Tyr600Ser |
Missense |
18/20 |
- |
21-34025611-A-C |
SYNJ1 |
c.2978T>G |
p.Leu993Arg |
Missense |
22/32 |
- |
21-34058095-A-T |
SYNJ1 |
c.1198T>A |
p.Tyr400Asn |
Missense |
9/32 |
- |
21-34045773-C-T |
SYNJ1 |
c.1720G>A |
p.Val574Ile |
Missense |
14/32 |
- |
21-34018755-G-A |
SYNJ1 |
c.3312C>T |
p.Pro1104Pro |
Synonymous |
24/32 |
- |
21-34003452-A-C |
SYNJ1 |
c.4692T>G |
p.Gly1564Gly |
Synonymous |
32/32 |
- |
11-85711811-T-C |
PICALM |
c.1029A>G |
p.Leu343Leu |
Synonymous |
11/20 |
- |
21-34059331-A-T |
SYNJ1 |
c.1022T>A |
p.Leu341His |
Missense |
8/32 |
- |
11-85779717-C-G |
PICALM |
c.106G>C |
p.Gly36Arg |
Missense |
1/20 |
- |
21-34037226-T-C |
SYNJ1 |
c.2418A>G |
p.Gly806Gly |
Synonymous |
18/32 |
- |
X-19613095-T-G |
SH3KBP1 |
c.1029A>C |
p.Pro343Pro |
Synonymous |
10/18 |
- |
21-34030150-G-A |
SYNJ1 |
c.2454C>T |
p.Thr818Thr |
Synonymous |
19/32 |
- |
21-34030150-G-C |
SYNJ1 |
c.2454C>G |
p.Thr818Thr |
Synonymous |
19/32 |
- |
21-34067463-G-A |
SYNJ1 |
c.726C>T |
p.Leu242Leu |
Synonymous |
5/32 |
- |
21-34072177-T-A |
SYNJ1 |
c.567A>T |
p.Gln189His |
Missense |
4/32 |
- |
21-34072177-T-C |
SYNJ1 |
c.567A>G |
p.Gln189Gln |
Synonymous |
4/32 |
- |
21-34018046-G-C |
SYNJ1 |
c.3418C>G |
p.Gln1140Glu |
Missense |
25/32 |
- |
21-34003477-G-A |
SYNJ1 |
c.4667C>T |
p.Thr1556Ile |
Missense |
32/32 |
- |
21-34001274-C-A |
SYNJ1 |
c.*2031G>T |
- |
3-UTRSNV |
32/32 |
- |
X-19854270-T-C |
SH3KBP1 |
c.135A>G |
p.Arg45Arg |
Synonymous |
2/18 |
- |
21-34058069-A-G |
SYNJ1 |
c.1224T>C |
p.Ser408Ser |
Synonymous |
9/32 |
- |
11-85687692-G-C |
PICALM |
c.1813C>G |
p.Pro605Ala |
Missense |
18/20 |
- |
11-85711695-G-A |
PICALM |
c.1145C>T |
p.Ser382Phe |
Missense |
11/20 |
- |
21-34002669-C-T |
SYNJ1 |
c.*636G>A |
- |
3-UTRSNV |
32/32 |
- |
11-85722066-A-G |
PICALM |
c.765+7T>C |
- |
IntronicSNV |
- |
7/19 |
11-85707899-T-C |
PICALM |
c.1228A>G |
p.Thr410Ala |
Missense |
12/20 |
- |
21-34030102-G-C |
SYNJ1 |
c.2502C>G |
p.Thr834Thr |
Synonymous |
19/32 |
- |
11-85685862-A-C |
PICALM |
c.1840-7T>G |
- |
IntronicSNV |
- |
18/19 |
11-85779869-C-T |
PICALM |
c.1-47G>A |
- |
5-UTRSNV |
1/20 |
- |
21-34003434-A-G |
SYNJ1 |
c.4710T>C |
p.Cys1570Cys |
Synonymous |
32/32 |
- |
11-85737377-C-T |
PICALM |
c.306G>A |
p.Thr102Thr |
Synonymous |
3/20 |
- |
21-34003931-C-T |
SYNJ1 |
c.4213G>A |
p.Val1405Ile |
Missense |
32/32 |
- |
21-34003449-T-C |
SYNJ1 |
c.4695A>G |
p.Thr1565Thr |
Synonymous |
32/32 |
- |
21-34058146-C-T |
SYNJ1 |
c.1147G>A |
p.Ala383Thr |
Missense |
9/32 |
- |
11-85701323-T-C |
PICALM |
c.1378A>G |
p.Thr460Ala |
Missense |
13/20 |
- |
11-85712131-T-A |
PICALM |
c.964A>T |
p.Arg322Trp |
Missense |
10/20 |
- |
21-34074305-T-G |
SYNJ1 |
c.294A>C |
p.Ala98Ala |
Synonymous |
3/32 |
- |
X-19560160-C-T |
SH3KBP1 |
c.1775G>A |
p.Gly592Asp |
Missense |
16/18 |
- |
21-34011369-G-C |
SYNJ1 |
c.3881C>G |
p.Pro1294Arg |
Missense |
31/32 |
- |
21-34011369-G-A |
SYNJ1 |
c.3881C>T |
p.Pro1294Leu |
Missense |
31/32 |
- |
X-19610272-G-A |
SH3KBP1 |
c.1058-7C>T |
- |
IntronicSNV |
- |
10/17 |
X-19560162-G-A |
SH3KBP1 |
c.1773C>T |
p.Phe591Phe |
Synonymous |
16/18 |
- |
21-34029170-T-C |
SYNJ1 |
c.2739A>G |
p.Glu913Glu |
Synonymous |
21/32 |
- |
11-85723446-A-AA |
PICALM |
c.547-7_547-7dup |
- |
IntronicInsertion |
- |
5/19 |
21-34038278-A-G |
SYNJ1 |
c.2237T>C |
p.Ile746Thr |
Missense |
17/32 |
- |
11-85726014-G-A |
PICALM |
c.453-8C>T |
- |
IntronicSNV |
- |
4/19 |
21-34029131-T-G |
SYNJ1 |
c.2778A>C |
p.Ala926Ala |
Synonymous |
21/32 |
- |
21-34018835-C-G |
SYNJ1 |
c.3232G>C |
p.Gly1078Arg |
Missense |
24/32 |
- |
21-34003617-C-T |
SYNJ1 |
c.4527G>A |
p.Gln1509Gln |
Synonymous |
32/32 |
- |
21-34072321-C-T |
SYNJ1 |
c.423G>A |
p.Glu141Glu |
Synonymous |
4/32 |
- |
11-85701383-G-A |
PICALM |
c.1318C>T |
p.Leu440Phe |
Missense |
13/20 |
- |
21-34029368-T-C |
SYNJ1 |
c.2641A>G |
p.Thr881Ala |
Missense |
20/32 |
- |
X-19554059-G-A |
SH3KBP1 |
c.*476C>T |
- |
3-UTRSNV |
18/18 |
- |
X-19560116-C-A |
SH3KBP1 |
c.1819G>T |
p.Ala607Ser |
Missense |
16/18 |
- |
21-34011295-A-T |
SYNJ1 |
c.3955T>A |
p.Leu1319Met |
Missense |
31/32 |
- |
21-34053868-C-T |
SYNJ1 |
c.1408G>A |
p.Val470Met |
Missense |
11/32 |
- |
21-34051014-G-C |
SYNJ1 |
c.1568C>G |
p.Thr523Ser |
Missense |
12/32 |
- |
11-85670024-G-A |
PICALM |
c.*65C>T |
- |
3-UTRSNV |
20/20 |
- |
X-19554565-G-A |
SH3KBP1 |
c.1968C>T |
p.Asn656Asn |
Synonymous |
18/18 |
- |
11-85707947-G-C |
PICALM |
c.1180C>G |
p.Leu394Val |
Missense |
12/20 |
- |
X-19568181-C-T |
SH3KBP1 |
c.1405G>A |
p.Val469Met |
Missense |
14/18 |
- |
21-34053881-C-T |
SYNJ1 |
c.1395G>A |
p.Arg465Arg |
Synonymous |
11/32 |
- |
21-34037232-A-G |
SYNJ1 |
c.2412T>C |
p.Asn804Asn |
Synonymous |
18/32 |
- |
21-34003539-T-C |
SYNJ1 |
c.4605A>G |
p.Ser1535Ser |
Synonymous |
32/32 |
- |
21-34100317-T-C |
SYNJ1 |
c.35A>G |
p.Asp12Gly |
Missense |
1/32 |
- |
21-34003539-T-G |
SYNJ1 |
c.4605A>C |
p.Ser1535Ser |
Synonymous |
32/32 |
- |
21-34001627-G-A |
SYNJ1 |
c.*1678C>T |
- |
3-UTRSNV |
32/32 |
- |
21-34038285-T-C |
SYNJ1 |
c.2230A>G |
p.Ile744Val |
Missense |
17/32 |
- |
11-85694941-T-C |
PICALM |
c.1484A>G |
p.Asn495Ser |
Missense |
14/20 |
- |
21-34001625-C-T |
SYNJ1 |
c.*1680G>A |
- |
3-UTRSNV |
32/32 |
- |
21-34012032-C-A |
SYNJ1 |
c.3763G>T |
p.Ala1255Ser |
Missense |
30/32 |
- |
21-34099087-C-A |
SYNJ1 |
c.237G>T |
p.Val79Val |
Synonymous |
2/32 |
- |
21-34012032-C-T |
SYNJ1 |
c.3763G>A |
p.Ala1255Thr |
Missense |
30/32 |
- |
X-19560250-C-T |
SH3KBP1 |
c.1685G>A |
p.Gly562Glu |
Missense |
16/18 |
- |
21-34050958-G-A |
SYNJ1 |
c.1624C>T |
p.Arg542Cys |
Missense |
12/32 |
- |
21-34003953-C-A |
SYNJ1 |
c.4191G>T |
p.Leu1397Phe |
Missense |
32/32 |
- |
X-19613088-G-A |
SH3KBP1 |
c.1036C>T |
p.Pro346Ser |
Missense |
10/18 |
- |
21-34074283-G-A |
SYNJ1 |
c.316C>T |
p.Arg106Trp |
Missense |
3/32 |
- |
21-34002359-C-T |
SYNJ1 |
c.*946G>A |
- |
3-UTRSNV |
32/32 |
- |
21-34030141-C-T |
SYNJ1 |
c.2463G>A |
p.Pro821Pro |
Synonymous |
19/32 |
- |
11-85687667-A-G |
PICALM |
c.1838T>C |
p.Ile613Thr |
Missense |
18/20 |
- |
11-85779723-T-C |
PICALM |
c.100A>G |
p.Ile34Val |
Missense |
1/20 |
- |
21-34011261-C-G |
SYNJ1 |
c.3989G>C |
p.Arg1330Thr |
Missense |
31/32 |
- |
X-19854344-T-C |
SH3KBP1 |
c.61A>G |
p.Ser21Gly |
Missense |
2/18 |
- |
21-34003261-T-G |
SYNJ1 |
c.*44A>C |
- |
3-UTRSNV |
32/32 |
- |
11-85733523-A-AA |
PICALM |
c.350-5_350-5dup |
- |
IntronicInsertion |
- |
3/19 |
21-34002274-G-A |
SYNJ1 |
c.*1031C>T |
- |
3-UTRSNV |
32/32 |
- |
21-34029132-G-A |
SYNJ1 |
c.2777C>T |
p.Ala926Val |
Missense |
21/32 |
- |
X-19606775-C-T |
SH3KBP1 |
c.1284G>A |
p.Pro428Pro |
Synonymous |
12/18 |
- |
11-85714487-C-T |
PICALM |
c.815G>A |
p.Ser272Asn |
Missense |
9/20 |
- |
21-34003304-G-A |
SYNJ1 |
c.*1C>T |
- |
3-UTRSNV |
32/32 |
- |
21-34029193-C-A |
SYNJ1 |
c.2716G>T |
p.Asp906Tyr |
Missense |
21/32 |
- |
X-19606775-C-G |
SH3KBP1 |
c.1284G>C |
p.Pro428Pro |
Synonymous |
12/18 |
- |
X-19564136-G-A |
SH3KBP1 |
c.1527C>T |
p.Ser509Ser |
Synonymous |
15/18 |
- |
11-85707958-G-C |
PICALM |
c.1169C>G |
p.Pro390Arg |
Missense |
12/20 |
- |
X-19854278-C-T |
SH3KBP1 |
c.127G>A |
p.Gly43Ser |
Missense |
2/18 |
- |
21-34066562-C-G |
SYNJ1 |
c.882G>C |
p.Leu294Phe |
Missense |
6/32 |
- |
11-85707952-T-C |
PICALM |
c.1175A>G |
p.Asp392Gly |
Missense |
12/20 |
- |
21-34003378-G-C |
SYNJ1 |
c.4766C>G |
p.Thr1589Ser |
Missense |
32/32 |
- |
11-85742540-T-C |
PICALM |
c.244A>G |
p.Thr82Ala |
Missense |
2/20 |
- |
21-34017296-T-G |
SYNJ1 |
c.3529A>C |
p.Thr1177Pro |
Missense |
26/32 |
- |
21-34017296-T-C |
SYNJ1 |
c.3529A>G |
p.Thr1177Ala |
Missense |
26/32 |
- |
21-34007186-T-C |
SYNJ1 |
c.4033-3075A>G |
- |
IntronicSNV |
- |
31/31 |
11-85692220-G-C |
PICALM |
c.1731C>G |
p.Asn577Lys |
Missense |
17/20 |
- |
X-19560161-C-T |
SH3KBP1 |
c.1774G>A |
p.Gly592Ser |
Missense |
16/18 |
- |
21-34053862-C-A |
SYNJ1 |
c.1414G>T |
p.Gly472Cys |
Missense |
11/32 |
- |
21-34038272-C-T |
SYNJ1 |
c.2243G>A |
p.Arg748Gln |
Missense |
17/32 |
- |
21-34067599-G-A |
SYNJ1 |
c.597-7C>T |
- |
IntronicSNV |
- |
4/31 |
21-34067489-C-T |
SYNJ1 |
c.700G>A |
p.Ala234Thr |
Missense |
5/32 |
- |
X-19553415-G-A |
SH3KBP1 |
c.*1120C>T |
- |
3-UTRSNV |
18/18 |
- |
11-85737365-T-C |
PICALM |
c.318A>G |
p.Leu106Leu |
Synonymous |
3/20 |
- |
X-19587223-A-G |
SH3KBP1 |
c.1382T>C |
p.Ile461Thr |
Missense |
13/18 |
- |
11-85779769-G-A |
PICALM |
c.54C>T |
p.Thr18Thr |
Synonymous |
1/20 |
- |
21-34030048-C-T |
SYNJ1 |
c.2556G>A |
p.Arg852Arg |
Synonymous |
19/32 |
- |
X-19560301-T-C |
SH3KBP1 |
c.1634A>G |
p.Asn545Ser |
Missense |
16/18 |
- |
X-19587293-T-C |
SH3KBP1 |
c.1312A>G |
p.Lys438Glu |
Missense |
13/18 |
- |
21-34072140-G-A |
SYNJ1 |
c.596+8C>T |
- |
IntronicSNV |
- |
4/31 |
21-34038828-T-C |
SYNJ1 |
c.1984A>G |
p.Asn662Asp |
Missense |
16/32 |
- |
11-85712165-T-A |
PICALM |
c.930A>T |
p.Ala310Ala |
Synonymous |
10/20 |
- |
21-34072407-T-C |
SYNJ1 |
c.337A>G |
p.Met113Val |
Missense |
4/32 |
- |
21-34029103-A-G |
SYNJ1 |
c.2806T>C |
p.Leu936Leu |
Synonymous |
21/32 |
- |
21-34012018-A-G |
SYNJ1 |
c.3777T>C |
p.Thr1259Thr |
Synonymous |
30/32 |
- |
21-34038825-T-C |
SYNJ1 |
c.1987A>G |
p.Lys663Glu |
Missense |
16/32 |
- |
11-85701411-A-G |
PICALM |
c.1290T>C |
p.Asp430Asp |
Synonymous |
13/20 |
- |
X-19650017-T-C |
SH3KBP1 |
c.862A>G |
p.Ile288Val |
Missense |
8/18 |
- |
21-34099164-G-A |
SYNJ1 |
c.160C>T |
p.Pro54Ser |
Missense |
2/32 |
- |
21-34017963-C-T |
SYNJ1 |
c.3501G>A |
p.Pro1167Pro |
Synonymous |
25/32 |
- |
X-19553573-T-C |
SH3KBP1 |
c.*962A>G |
- |
3-UTRSNV |
18/18 |
- |
21-34099164-G-T |
SYNJ1 |
c.160C>A |
p.Pro54Thr |
Missense |
2/32 |
- |
X-19560222-G-C |
SH3KBP1 |
c.1713C>G |
p.Pro571Pro |
Synonymous |
16/18 |
- |
21-34053955-G-C |
SYNJ1 |
c.1321C>G |
p.Leu441Val |
Missense |
11/32 |
- |
21-34017978-T-C |
SYNJ1 |
c.3486A>G |
p.Pro1162Pro |
Synonymous |
25/32 |
- |
21-34037322-G-A |
SYNJ1 |
c.2322C>T |
p.Ile774Ile |
Synonymous |
18/32 |
- |
21-34001914-A-G |
SYNJ1 |
c.*1391T>C |
- |
3-UTRSNV |
32/32 |
- |
X-19606862-C-T |
SH3KBP1 |
c.1197G>A |
p.Pro399Pro |
Synonymous |
12/18 |
- |
21-34003176-A-G |
SYNJ1 |
c.*129T>C |
- |
3-UTRSNV |
32/32 |
- |
X-19854362-C-G |
SH3KBP1 |
c.43G>C |
p.Asp15His |
Missense |
2/18 |
- |
21-34053840-T-C |
SYNJ1 |
c.1436A>G |
p.Tyr479Cys |
Missense |
11/32 |
- |
11-85711782-G-T |
PICALM |
c.1058C>A |
p.Ser353Tyr |
Missense |
11/20 |
- |
21-34042665-T-C |
SYNJ1 |
c.1861A>G |
p.Thr621Ala |
Missense |
15/32 |
- |
X-19606835-G-C |
SH3KBP1 |
c.1224C>G |
p.Thr408Thr |
Synonymous |
12/18 |
- |
21-34004016-C-T |
SYNJ1 |
c.4128G>A |
p.Lys1376Lys |
Synonymous |
32/32 |
- |
21-34100294-C-A |
SYNJ1 |
c.58G>T |
p.Gly20Cys |
Missense |
1/32 |
- |
X-19764494-T-C |
SH3KBP1 |
c.228A>G |
p.Glu76Glu |
Synonymous |
3/18 |
- |
21-34014437-T-C |
SYNJ1 |
c.3602A>G |
p.Lys1201Arg |
Missense |
28/32 |
- |
21-34045710-G-C |
SYNJ1 |
c.1783C>G |
p.Gln595Glu |
Missense |
14/32 |
- |
X-19606862-C-A |
SH3KBP1 |
c.1197G>T |
p.Pro399Pro |
Synonymous |
12/18 |
- |
X-19606859-T-G |
SH3KBP1 |
c.1200A>C |
p.Pro400Pro |
Synonymous |
12/18 |
- |
21-34051038-A-G |
SYNJ1 |
c.1544T>C |
p.Ile515Thr |
Missense |
12/32 |
- |
21-34003838-T-C |
SYNJ1 |
c.4306A>G |
p.Ile1436Val |
Missense |
32/32 |
- |
21-34059359-A-G |
SYNJ1 |
c.994T>C |
p.Tyr332His |
Missense |
8/32 |
- |
21-34003357-A-C |
SYNJ1 |
c.4787T>G |
p.Phe1596Cys |
Missense |
32/32 |
- |
X-19553052-G-T |
SH3KBP1 |
c.*1483C>A |
- |
3-UTRSNV |
18/18 |
- |
21-34003865-T-C |
SYNJ1 |
c.4279A>G |
p.Asn1427Asp |
Missense |
32/32 |
- |
X-19663601-G-C |
SH3KBP1 |
c.727-8C>G |
- |
IntronicSNV |
- |
6/17 |
X-19606859-T-C |
SH3KBP1 |
c.1200A>G |
p.Pro400Pro |
Synonymous |
12/18 |
- |
21-34022588-C-A |
SYNJ1 |
c.3060G>T |
p.Met1020Ile |
Missense |
23/32 |
- |
21-34029032-C-G |
SYNJ1 |
c.2877G>C |
p.Gln959His |
Missense |
21/32 |
- |
21-34003882-C-T |
SYNJ1 |
c.4262G>A |
p.Arg1421Gln |
Missense |
32/32 |
- |
21-34003858-C-T |
SYNJ1 |
c.4286G>A |
p.Arg1429Gln |
Missense |
32/32 |
- |
11-85707933-C-T |
PICALM |
c.1194G>A |
p.Gln398Gln |
Synonymous |
12/20 |
- |
21-34011260-C-A |
SYNJ1 |
c.3990G>T |
p.Arg1330Ser |
Missense |
31/32 |
- |
21-34011260-C-T |
SYNJ1 |
c.3990G>A |
p.Arg1330Arg |
Synonymous |
31/32 |
- |
21-34015774-A-G |
SYNJ1 |
c.3548-7T>C |
- |
IntronicSNV |
- |
26/31 |
21-34001585-C-G |
SYNJ1 |
c.*1720G>C |
- |
3-UTRSNV |
32/32 |
- |
21-34042647-C-T |
SYNJ1 |
c.1879G>A |
p.Gly627Ser |
Missense |
15/32 |
- |
21-34001750-G-A |
SYNJ1 |
c.*1555C>T |
- |
3-UTRSNV |
32/32 |
- |
21-34003858-C-A |
SYNJ1 |
c.4286G>T |
p.Arg1429Leu |
Missense |
32/32 |
- |
X-19626051-C-T |
SH3KBP1 |
c.1005+5G>A |
- |
IntronicSNV |
- |
9/17 |
21-34037355-A-G |
SYNJ1 |
c.2289T>C |
p.Tyr763Tyr |
Synonymous |
18/32 |
- |
21-34058174-G-A |
SYNJ1 |
c.1119C>T |
p.Asp373Asp |
Synonymous |
9/32 |
- |
21-34058195-A-G |
SYNJ1 |
c.1098T>C |
p.Asp366Asp |
Synonymous |
9/32 |
- |
21-34067446-C-T |
SYNJ1 |
c.743G>A |
p.Cys248Tyr |
Missense |
5/32 |
- |
11-85711701-G-A |
PICALM |
c.1139C>T |
p.Pro380Leu |
Missense |
11/20 |
- |
X-19560124-C-T |
SH3KBP1 |
c.1811G>A |
p.Ser604Asn |
Missense |
16/18 |
- |
21-34003391-G-A |
SYNJ1 |
c.4753C>T |
p.Leu1585Phe |
Missense |
32/32 |
- |
X-19764459-G-A |
SH3KBP1 |
c.263C>T |
p.Thr88Met |
Missense |
3/18 |
- |
11-85722172-A-G |
PICALM |
c.666T>C |
p.Tyr222Tyr |
Synonymous |
7/20 |
- |
11-85779703-C-T |
PICALM |
c.120G>A |
p.Lys40Lys |
Synonymous |
1/20 |
- |
21-34004060-C-A |
SYNJ1 |
c.4084G>T |
p.Asp1362Tyr |
Missense |
32/32 |
- |
21-34011414-G-A |
SYNJ1 |
c.3836C>T |
p.Pro1279Leu |
Missense |
31/32 |
- |
X-19606790-C-T |
SH3KBP1 |
c.1269G>A |
p.Glu423Glu |
Synonymous |
12/18 |
- |
X-19568152-A-G |
SH3KBP1 |
c.1434T>C |
p.His478His |
Synonymous |
14/18 |
- |
21-34045787-G-A |
SYNJ1 |
c.1706C>T |
p.Pro569Leu |
Missense |
14/32 |
- |
X-19552577-T-A |
SH3KBP1 |
c.*1958A>T |
- |
3-UTRSNV |
18/18 |
- |
X-19564141-C-T |
SH3KBP1 |
c.1522G>A |
p.Asp508Asn |
Missense |
15/18 |
- |
11-85687719-G-C |
PICALM |
c.1786C>G |
p.Pro596Ala |
Missense |
18/20 |
- |
21-34002420-T-C |
SYNJ1 |
c.*885A>G |
- |
3-UTRSNV |
32/32 |
- |
X-19552901-G-A |
SH3KBP1 |
c.*1634C>T |
- |
3-UTRSNV |
18/18 |
- |
X-19587245-G-A |
SH3KBP1 |
c.1360C>T |
p.Leu454Phe |
Missense |
13/18 |
- |
X-19606766-G-A |
SH3KBP1 |
c.1293C>T |
p.His431His |
Synonymous |
12/18 |
- |
21-34003744-G-T |
SYNJ1 |
c.4400C>A |
p.Ser1467* |
Nonsense |
32/32 |
- |
21-34003744-G-A |
SYNJ1 |
c.4400C>T |
p.Ser1467Leu |
Missense |
32/32 |
- |
21-34100320-C-T |
SYNJ1 |
c.32G>A |
p.Ser11Asn |
Missense |
1/32 |
- |
21-34011346-G-A |
SYNJ1 |
c.3904C>T |
p.Pro1302Ser |
Missense |
31/32 |
- |
X-19564078-C-G |
SH3KBP1 |
c.1585G>C |
p.Ala529Pro |
Missense |
15/18 |
- |
X-19564078-C-T |
SH3KBP1 |
c.1585G>A |
p.Ala529Thr |
Missense |
15/18 |
- |
11-85692174-T-C |
PICALM |
c.1777A>G |
p.Met593Val |
Missense |
17/20 |
- |
21-34029006-A-C |
SYNJ1 |
c.2903T>G |
p.Ile968Arg |
Missense |
21/32 |
- |
21-34045735-T-C |
SYNJ1 |
c.1758A>G |
p.Gln586Gln |
Synonymous |
14/32 |
- |
21-34058050-A-G |
SYNJ1 |
c.1235+8T>C |
- |
IntronicSNV |
- |
9/31 |
11-85733496-T-C |
PICALM |
c.366A>G |
p.Thr122Thr |
Synonymous |
4/20 |
- |
11-85742636-T-G |
PICALM |
c.148A>C |
p.Asn50His |
Missense |
2/20 |
- |
11-85711726-G-A |
PICALM |
c.1114C>T |
p.Pro372Ser |
Missense |
11/20 |
- |
X-19606776-G-A |
SH3KBP1 |
c.1283C>T |
p.Pro428Leu |
Missense |
12/18 |
- |
X-19552215-T-C |
SH3KBP1 |
c.*2320A>G |
- |
3-UTRSNV |
18/18 |
- |
21-34045820-C-T |
SYNJ1 |
c.1673G>A |
p.Ser558Asn |
Missense |
14/32 |
- |
11-85692949-A-C |
PICALM |
c.1614T>G |
p.Asp538Glu |
Missense |
15/20 |
- |
X-19626155-G-A |
SH3KBP1 |
c.906C>T |
p.Ile302Ile |
Synonymous |
9/18 |
- |
21-34045775-C-T |
SYNJ1 |
c.1718G>A |
p.Arg573Gln |
Missense |
14/32 |
- |
21-34058075-A-C |
SYNJ1 |
c.1218T>G |
p.Asn406Lys |
Missense |
9/32 |
- |
21-34053865-T-C |
SYNJ1 |
c.1411A>G |
p.Asn471Asp |
Missense |
11/32 |
- |
11-85722166-A-T |
PICALM |
c.672T>A |
p.Asp224Glu |
Missense |
7/20 |
- |
X-19626155-G-T |
SH3KBP1 |
c.906C>A |
p.Ile302Ile |
Synonymous |
9/18 |
- |
21-34058062-G-C |
SYNJ1 |
c.1231C>G |
p.Gln411Glu |
Missense |
9/32 |
- |
21-34030091-C-G |
SYNJ1 |
c.2513G>C |
p.Cys838Ser |
Missense |
19/32 |
- |
11-85692988-A-G |
PICALM |
c.1575T>C |
p.Leu525Leu |
Synonymous |
15/20 |
- |
21-34003690-G-A |
SYNJ1 |
c.4454C>T |
p.Pro1485Leu |
Missense |
32/32 |
- |
X-19587235-C-T |
SH3KBP1 |
c.1370G>A |
p.Arg457His |
Missense |
13/18 |
- |
21-34011367-G-T |
SYNJ1 |
c.3883C>A |
p.Pro1295Thr |
Missense |
31/32 |
- |
21-34011367-G-A |
SYNJ1 |
c.3883C>T |
p.Pro1295Ser |
Missense |
31/32 |
- |
11-85779935-C-T |
PICALM |
c.1-113G>A |
- |
5-UTRSNV |
1/20 |
- |
21-34029022-T-G |
SYNJ1 |
c.2887A>C |
p.Ser963Arg |
Missense |
21/32 |
- |
21-34072313-G-A |
SYNJ1 |
c.431C>T |
p.Ser144Leu |
Missense |
4/32 |
- |
11-85725927-G-A |
PICALM |
c.532C>T |
p.Leu178Phe |
Missense |
5/20 |
- |
21-34029200-G-A |
SYNJ1 |
c.2709C>T |
p.Ala903Ala |
Synonymous |
21/32 |
- |
11-85742565-C-G |
PICALM |
c.219G>C |
p.Val73Val |
Synonymous |
2/20 |
- |
11-85685808-T-C |
PICALM |
c.1887A>G |
p.Ile629Met |
Missense |
19/20 |
- |
21-34045830-C-A |
SYNJ1 |
c.1663G>T |
p.Val555Leu |
Missense |
14/32 |
- |
21-34058162-C-T |
SYNJ1 |
c.1131G>A |
p.Met377Ile |
Missense |
9/32 |
- |
21-34045830-C-T |
SYNJ1 |
c.1663G>A |
p.Val555Ile |
Missense |
14/32 |
- |
11-85707933-C-A |
PICALM |
c.1194G>T |
p.Gln398His |
Missense |
12/20 |
- |
21-34018780-G-A |
SYNJ1 |
c.3287C>T |
p.Ser1096Leu |
Missense |
24/32 |
- |
21-34018741-C-T |
SYNJ1 |
c.3326G>A |
p.Arg1109Gln |
Missense |
24/32 |
- |
X-19560294-T-G |
SH3KBP1 |
c.1641A>C |
p.Ala547Ala |
Synonymous |
16/18 |
- |
21-34002532-G-A |
SYNJ1 |
c.*773C>T |
- |
3-UTRSNV |
32/32 |
- |
21-34002532-G-C |
SYNJ1 |
c.*773C>G |
- |
3-UTRSNV |
32/32 |
- |
21-34002165-T-C |
SYNJ1 |
c.*1140A>G |
- |
3-UTRSNV |
32/32 |
- |
21-34012077-G-A |
SYNJ1 |
c.3718C>T |
p.Arg1240Cys |
Missense |
30/32 |
- |
21-34003672-C-T |
SYNJ1 |
c.4472G>A |
p.Ser1491Asn |
Missense |
32/32 |
- |
11-85687722-G-A |
PICALM |
c.1783C>T |
p.Pro595Ser |
Missense |
18/20 |
- |
11-85725944-T-C |
PICALM |
c.515A>G |
p.Gln172Arg |
Missense |
5/20 |
- |
21-34018063-G-A |
SYNJ1 |
c.3401C>T |
p.Pro1134Leu |
Missense |
25/32 |
- |
21-34072193-G-A |
SYNJ1 |
c.551C>T |
p.Ala184Val |
Missense |
4/32 |
- |
11-85692964-G-C |
PICALM |
c.1599C>G |
p.Ser533Arg |
Missense |
15/20 |
- |
21-34002240-C-T |
SYNJ1 |
c.*1065G>A |
- |
3-UTRSNV |
32/32 |
- |
21-34045821-T-C |
SYNJ1 |
c.1672A>G |
p.Ser558Gly |
Missense |
14/32 |
- |
X-19817760-A-C |
SH3KBP1 |
c.162+36483T>G |
- |
IntronicSNV |
- |
2/17 |
21-34029139-C-G |
SYNJ1 |
c.2770G>C |
p.Val924Leu |
Missense |
21/32 |
- |
21-34011260-C-G |
SYNJ1 |
c.3990G>C |
p.Arg1330Ser |
Missense |
31/32 |
- |
X-19626157-T-C |
SH3KBP1 |
c.904A>G |
p.Ile302Val |
Missense |
9/18 |
- |
X-19854386-C-G |
SH3KBP1 |
c.19G>C |
p.Glu7Gln |
Missense |
2/18 |
- |
11-85711727-T-G |
PICALM |
c.1113A>C |
p.Ala371Ala |
Synonymous |
11/20 |
- |
11-85711727-T-A |
PICALM |
c.1113A>T |
p.Ala371Ala |
Synonymous |
11/20 |
- |
21-34067416-C-T |
SYNJ1 |
c.773G>A |
p.Arg258Gln |
Missense |
5/32 |
- |
X-19554057-G-A |
SH3KBP1 |
c.*478C>T |
- |
3-UTRSNV |
18/18 |
- |
21-34060664-C-T |
SYNJ1 |
c.920G>A |
p.Arg307His |
Missense |
7/32 |
- |
X-19554526-A-T |
SH3KBP1 |
c.*9T>A |
- |
3-UTRSNV |
18/18 |
- |
21-34003502-T-G |
SYNJ1 |
c.4642A>C |
p.Ser1548Arg |
Missense |
32/32 |
- |
21-34003991-G-A |
SYNJ1 |
c.4153C>T |
p.Pro1385Ser |
Missense |
32/32 |
- |
21-34042634-A-G |
SYNJ1 |
c.1892T>C |
p.Met631Thr |
Missense |
15/32 |
- |
11-85701387-A-G |
PICALM |
c.1314T>C |
p.Pro438Pro |
Synonymous |
13/20 |
- |
X-19587278-C-T |
SH3KBP1 |
c.1327G>A |
p.Gly443Ser |
Missense |
13/18 |
- |
11-85726013-T-C |
PICALM |
c.453-7A>G |
- |
IntronicSNV |
- |
4/19 |
21-34053961-T-A |
SYNJ1 |
c.1318-3A>T |
- |
IntronicSNV |
- |
10/31 |
X-19701951-G-A |
SH3KBP1 |
c.716C>T |
p.Pro239Leu |
Missense |
6/18 |
- |
21-34029180-A-G |
SYNJ1 |
c.2729T>C |
p.Phe910Ser |
Missense |
21/32 |
- |
11-85701401-G-C |
PICALM |
c.1300C>G |
p.Pro434Ala |
Missense |
13/20 |
- |
21-34029367-G-T |
SYNJ1 |
c.2642C>A |
p.Thr881Asn |
Missense |
20/32 |
- |
11-85711721-G-A |
PICALM |
c.1119C>T |
p.Ala373Ala |
Synonymous |
11/20 |
- |
21-34099182-T-C |
SYNJ1 |
c.142A>G |
p.Ile48Val |
Missense |
2/32 |
- |
21-34045679-G-A |
SYNJ1 |
c.1814C>T |
p.Pro605Leu |
Missense |
14/32 |
- |
21-34072408-A-G |
SYNJ1 |
c.336T>C |
p.Thr112Thr |
Synonymous |
4/32 |
- |
X-19564048-T-C |
SH3KBP1 |
c.1615A>G |
p.Ile539Val |
Missense |
15/18 |
- |
21-34025674-A-G |
SYNJ1 |
c.2915T>C |
p.Phe972Ser |
Missense |
22/32 |
- |
21-34099187-A-T |
SYNJ1 |
c.137T>A |
p.Phe46Tyr |
Missense |
2/32 |
- |
21-34067458-G-A |
SYNJ1 |
c.731C>T |
p.Ser244Leu |
Missense |
5/32 |
- |
21-34012039-C-T |
SYNJ1 |
c.3756G>A |
p.Arg1252Arg |
Synonymous |
30/32 |
- |
21-34056365-C-T |
SYNJ1 |
c.1300G>A |
p.Ala434Thr |
Missense |
10/32 |
- |
X-19553804-T-C |
SH3KBP1 |
c.*731A>G |
- |
3-UTRSNV |
18/18 |
- |
X-19587279-G-T |
SH3KBP1 |
c.1326C>A |
p.Ala442Ala |
Synonymous |
13/18 |
- |
11-85779719-A-G |
PICALM |
c.104T>C |
p.Met35Thr |
Missense |
1/20 |
- |
11-85711745-T-G |
PICALM |
c.1095A>C |
p.Ala365Ala |
Synonymous |
11/20 |
- |
21-34099150-G-T |
SYNJ1 |
c.174C>A |
p.Ser58Arg |
Missense |
2/32 |
- |
21-34018745-T-C |
SYNJ1 |
c.3322A>G |
p.Ser1108Gly |
Missense |
24/32 |
- |
X-19725023-G-A |
SH3KBP1 |
c.366C>T |
p.Gly122Gly |
Synonymous |
4/18 |
- |
21-34002047-T-C |
SYNJ1 |
c.*1258A>G |
- |
3-UTRSNV |
32/32 |
- |
11-85742630-T-C |
PICALM |
c.154A>G |
p.Met52Val |
Missense |
2/20 |
- |
X-19606907-T-C |
SH3KBP1 |
c.1152A>G |
p.Arg384Arg |
Synonymous |
12/18 |
- |
11-85692908-T-C |
PICALM |
c.1648+7A>G |
- |
IntronicSNV |
- |
15/19 |
21-34002054-T-C |
SYNJ1 |
c.*1251A>G |
- |
3-UTRSNV |
32/32 |
- |
21-34029189-A-G |
SYNJ1 |
c.2720T>C |
p.Ile907Thr |
Missense |
21/32 |
- |
21-34003541-A-T |
SYNJ1 |
c.4603T>A |
p.Ser1535Thr |
Missense |
32/32 |
- |
21-34037358-G-A |
SYNJ1 |
c.2286C>T |
p.Asp762Asp |
Synonymous |
18/32 |
- |
21-34011249-C-T |
SYNJ1 |
c.4001G>A |
p.Ser1334Asn |
Missense |
31/32 |
- |
11-85669999-A-G |
PICALM |
c.*90T>C |
- |
3-UTRSNV |
20/20 |
- |
21-34003928-A-AGTATTA |
SYNJ1 |
c.4216_4217insAATACT |
p.Leu1406*fs*1 |
Nonsense |
32/32 |
- |
11-85779715-C-T |
PICALM |
c.108G>A |
p.Gly36Gly |
Synonymous |
1/20 |
- |
21-34015767-C-T |
SYNJ1 |
c.3548G>A |
p.Gly1183Asp |
Missense |
27/32 |
- |
X-19905619-T-G |
SH3KBP1 |
c.1-191A>C |
- |
5-UTRSNV |
1/18 |
- |
11-85779803-G-C |
PICALM |
c.20C>G |
p.Thr7Arg |
Missense |
1/20 |
- |
11-85701412-T-C |
PICALM |
c.1289A>G |
p.Asp430Gly |
Missense |
13/20 |
- |
21-34072192-C-A |
SYNJ1 |
c.552G>T |
p.Ala184Ala |
Synonymous |
4/32 |
- |
21-34072192-C-T |
SYNJ1 |
c.552G>A |
p.Ala184Ala |
Synonymous |
4/32 |
- |
21-34045747-A-G |
SYNJ1 |
c.1746T>C |
p.Asn582Asn |
Synonymous |
14/32 |
- |
X-19564042-G-C |
SH3KBP1 |
c.1621C>G |
p.Gln541Glu |
Missense |
15/18 |
- |
21-34001205-A-G |
SYNJ1 |
c.*2100T>C |
- |
3-UTRSNV |
32/32 |
- |
21-34018806-A-G |
SYNJ1 |
c.3261T>C |
p.Thr1087Thr |
Synonymous |
24/32 |
- |
11-85692916-G-A |
PICALM |
c.1647C>T |
p.Gly549Gly |
Synonymous |
15/20 |
- |
21-34002213-T-C |
SYNJ1 |
c.*1092A>G |
- |
3-UTRSNV |
32/32 |
- |
X-19650052-A-T |
SH3KBP1 |
c.827T>A |
p.Phe276Tyr |
Missense |
8/18 |
- |
21-34018016-G-T |
SYNJ1 |
c.3448C>A |
p.Pro1150Thr |
Missense |
25/32 |
- |
21-34072389-G-A |
SYNJ1 |
c.355C>T |
p.Leu119Leu |
Synonymous |
4/32 |
- |
11-85725966-G-A |
PICALM |
c.493C>T |
p.Leu165Leu |
Synonymous |
5/20 |
- |
X-19725008-C-A |
SH3KBP1 |
c.381G>T |
p.Val127Val |
Synonymous |
4/18 |
- |
X-19725008-C-T |
SH3KBP1 |
c.381G>A |
p.Val127Val |
Synonymous |
4/18 |
- |
21-34001263-A-T |
SYNJ1 |
c.*2042T>A |
- |
3-UTRSNV |
32/32 |
- |
21-34018081-T-C |
SYNJ1 |
c.3383A>G |
p.Gln1128Arg |
Missense |
25/32 |
- |
21-34002968-A-G |
SYNJ1 |
c.*337T>C |
- |
3-UTRSNV |
32/32 |
- |
X-19552469-G-A |
SH3KBP1 |
c.*2066C>T |
- |
3-UTRSNV |
18/18 |
- |
X-19555843-G-A |
SH3KBP1 |
c.1948C>T |
p.Arg650Trp |
Missense |
17/18 |
- |
X-19553946-G-A |
SH3KBP1 |
c.*589C>T |
- |
3-UTRSNV |
18/18 |
- |
X-19701980-C-A |
SH3KBP1 |
c.687G>T |
p.Arg229Ser |
Missense |
6/18 |
- |
21-34025635-C-T |
SYNJ1 |
c.2954G>A |
p.Ser985Asn |
Missense |
22/32 |
- |
11-85707861-A-G |
PICALM |
c.1258+8T>C |
- |
IntronicSNV |
- |
12/19 |
21-34060658-C-T |
SYNJ1 |
c.926G>A |
p.Arg309His |
Missense |
7/32 |
- |
21-34060658-C-A |
SYNJ1 |
c.926G>T |
p.Arg309Leu |
Missense |
7/32 |
- |
X-19663526-C-T |
SH3KBP1 |
c.794G>A |
p.Arg265Lys |
Missense |
7/18 |
- |
21-34003737-G-A |
SYNJ1 |
c.4407C>T |
p.Phe1469Phe |
Synonymous |
32/32 |
- |
21-34038757-A-G |
SYNJ1 |
c.2055T>C |
p.His685His |
Synonymous |
16/32 |
- |
X-19606801-T-C |
SH3KBP1 |
c.1258A>G |
p.Arg420Gly |
Missense |
12/18 |
- |
21-34056424-T-C |
SYNJ1 |
c.1241A>G |
p.Gln414Arg |
Missense |
10/32 |
- |
21-34059353-T-G |
SYNJ1 |
c.1000A>C |
p.Lys334Gln |
Missense |
8/32 |
- |
21-34048638-G-T |
SYNJ1 |
c.1651+4C>A |
- |
IntronicSNV |
- |
13/31 |
21-34003662-T-C |
SYNJ1 |
c.4482A>G |
p.Ser1494Ser |
Synonymous |
32/32 |
- |
11-85712138-C-T |
PICALM |
c.957G>A |
p.Val319Val |
Synonymous |
10/20 |
- |
21-34050988-C-T |
SYNJ1 |
c.1594G>A |
p.Ala532Thr |
Missense |
12/32 |
- |
21-34003722-G-A |
SYNJ1 |
c.4422C>T |
p.Pro1474Pro |
Synonymous |
32/32 |
- |
X-19560225-C-T |
SH3KBP1 |
c.1710G>A |
p.Ala570Ala |
Synonymous |
16/18 |
- |
21-34072316-A-G |
SYNJ1 |
c.428T>C |
p.Ile143Thr |
Missense |
4/32 |
- |
11-85711805-T-C |
PICALM |
c.1035A>G |
p.Glu345Glu |
Synonymous |
11/20 |
- |
11-85722168-C-T |
PICALM |
c.670G>A |
p.Asp224Asn |
Missense |
7/20 |
- |
11-85714443-C-T |
PICALM |
c.859G>A |
p.Gly287Arg |
Missense |
9/20 |
- |
X-19560249-C-G |
SH3KBP1 |
c.1686G>C |
p.Gly562Gly |
Synonymous |
16/18 |
- |
11-85701412-T-A |
PICALM |
c.1289A>T |
p.Asp430Val |
Missense |
13/20 |
- |
11-85712197-T-C |
PICALM |
c.898A>G |
p.Thr300Ala |
Missense |
10/20 |
- |
21-34012043-G-T |
SYNJ1 |
c.3752C>A |
p.Ala1251Glu |
Missense |
30/32 |
- |
21-34053813-T-C |
SYNJ1 |
c.1463A>G |
p.Lys488Arg |
Missense |
11/32 |
- |
21-34002155-G-A |
SYNJ1 |
c.*1150C>T |
- |
3-UTRSNV |
32/32 |
- |
21-34012043-G-A |
SYNJ1 |
c.3752C>T |
p.Ala1251Val |
Missense |
30/32 |
- |
21-34012043-G-C |
SYNJ1 |
c.3752C>G |
p.Ala1251Gly |
Missense |
30/32 |
- |
11-85694987-G-A |
PICALM |
c.1438C>T |
p.His480Tyr |
Missense |
14/20 |
- |
21-34003348-A-G |
SYNJ1 |
c.4796T>C |
p.Leu1599Ser |
Missense |
32/32 |
- |
11-85694957-C-T |
PICALM |
c.1468G>A |
p.Glu490Lys |
Missense |
14/20 |
- |
21-34004111-C-T |
SYNJ1 |
c.4033G>A |
p.Val1345Ile |
Missense |
32/32 |
- |
X-19564032-T-G |
SH3KBP1 |
c.1623+8A>C |
- |
IntronicSNV |
- |
15/17 |
X-19702077-T-C |
SH3KBP1 |
c.590A>G |
p.Asn197Ser |
Missense |
6/18 |
- |
X-19553216-G-A |
SH3KBP1 |
c.*1319C>T |
- |
3-UTRSNV |
18/18 |
- |
11-85670046-G-A |
PICALM |
c.*43C>T |
- |
3-UTRSNV |
20/20 |
- |
21-34029404-T-C |
SYNJ1 |
c.2605A>G |
p.Ser869Gly |
Missense |
20/32 |
- |
21-34030180-A-G |
SYNJ1 |
c.2424T>C |
p.Val808Val |
Synonymous |
19/32 |
- |
21-34002744-T-G |
SYNJ1 |
c.*561A>C |
- |
3-UTRSNV |
32/32 |
- |
21-34003383-G-C |
SYNJ1 |
c.4761C>G |
p.Pro1587Pro |
Synonymous |
32/32 |
- |
21-34003383-G-T |
SYNJ1 |
c.4761C>A |
p.Pro1587Pro |
Synonymous |
32/32 |
- |
21-34003383-G-A |
SYNJ1 |
c.4761C>T |
p.Pro1587Pro |
Synonymous |
32/32 |
- |
21-34022540-G-T |
SYNJ1 |
c.3108C>A |
p.Thr1036Thr |
Synonymous |
23/32 |
- |
11-85725937-C-T |
PICALM |
c.522G>A |
p.Gln174Gln |
Synonymous |
5/20 |
- |
21-34003996-G-A |
SYNJ1 |
c.4148C>T |
p.Thr1383Met |
Missense |
32/32 |
- |
21-34003437-G-C |
SYNJ1 |
c.4707C>G |
p.Phe1569Leu |
Missense |
32/32 |
- |
21-34003437-G-A |
SYNJ1 |
c.4707C>T |
p.Phe1569Phe |
Synonymous |
32/32 |
- |
21-34004016-C-G |
SYNJ1 |
c.4128G>C |
p.Lys1376Asn |
Missense |
32/32 |
- |
21-34003300-T-A |
SYNJ1 |
c.*5A>T |
- |
3-UTRSNV |
32/32 |
- |
21-34003300-T-C |
SYNJ1 |
c.*5A>G |
- |
3-UTRSNV |
32/32 |
- |
11-85701321-A-C |
PICALM |
c.1380T>G |
p.Thr460Thr |
Synonymous |
13/20 |
- |
21-34048638-G-C |
SYNJ1 |
c.1651+4C>G |
- |
IntronicSNV |
- |
13/31 |
11-85707912-T-G |
PICALM |
c.1215A>C |
p.Val405Val |
Synonymous |
12/20 |
- |
11-85707912-T-C |
PICALM |
c.1215A>G |
p.Val405Val |
Synonymous |
12/20 |
- |
X-19702102-T-C |
SH3KBP1 |
c.565A>G |
p.Ser189Gly |
Missense |
6/18 |
- |
X-19552311-G-A |
SH3KBP1 |
c.*2224C>T |
- |
3-UTRSNV |
18/18 |
- |
X-19587271-G-A |
SH3KBP1 |
c.1334C>T |
p.Ser445Leu |
Missense |
13/18 |
- |
21-34018024-G-A |
SYNJ1 |
c.3440C>T |
p.Pro1147Leu |
Missense |
25/32 |
- |
21-34022622-C-G |
SYNJ1 |
c.3026G>C |
p.Ser1009Thr |
Missense |
23/32 |
- |
21-34018703-T-C |
SYNJ1 |
c.3364A>G |
p.Ser1122Gly |
Missense |
24/32 |
- |
21-34017977-G-C |
SYNJ1 |
c.3487C>G |
p.Gln1163Glu |
Missense |
25/32 |
- |
11-85712187-G-T |
PICALM |
c.908C>A |
p.Ser303Tyr |
Missense |
10/20 |
- |
21-34003377-G-A |
SYNJ1 |
c.4767C>T |
p.Thr1589Thr |
Synonymous |
32/32 |
- |
21-34017969-A-T |
SYNJ1 |
c.3495T>A |
p.Pro1165Pro |
Synonymous |
25/32 |
- |
21-34067359-A-G |
SYNJ1 |
c.822+8T>C |
- |
IntronicSNV |
- |
5/31 |
21-34003903-G-A |
SYNJ1 |
c.4241C>T |
p.Thr1414Ile |
Missense |
32/32 |
- |
11-85711811-T-A |
PICALM |
c.1029A>T |
p.Leu343Leu |
Synonymous |
11/20 |
- |
11-85669982-G-A |
PICALM |
c.*107C>T |
- |
3-UTRSNV |
20/20 |
- |
11-85669982-G-T |
PICALM |
c.*107C>A |
- |
3-UTRSNV |
20/20 |
- |
21-34014422-G-A |
SYNJ1 |
c.3617C>T |
p.Thr1206Ile |
Missense |
28/32 |
- |
11-85779721-G-C |
PICALM |
c.102C>G |
p.Ile34Met |
Missense |
1/20 |
- |
21-34038342-C-T |
SYNJ1 |
c.2173G>A |
p.Val725Ile |
Missense |
17/32 |
- |
21-34017293-T-C |
SYNJ1 |
c.3532A>G |
p.Arg1178Gly |
Missense |
26/32 |
- |
21-34003239-T-A |
SYNJ1 |
c.*66A>T |
- |
3-UTRSNV |
32/32 |
- |
X-19606802-C-T |
SH3KBP1 |
c.1257G>A |
p.Pro419Pro |
Synonymous |
12/18 |
- |
21-34030110-A-G |
SYNJ1 |
c.2494T>C |
p.Tyr832His |
Missense |
19/32 |
- |
21-34003387-G-A |
SYNJ1 |
c.4757C>T |
p.Pro1586Leu |
Missense |
32/32 |
- |
11-85701447-G-C |
PICALM |
c.1259-5C>G |
- |
IntronicSNV |
- |
12/19 |
11-85692796-G-A |
PICALM |
c.1671C>T |
p.Thr557Thr |
Synonymous |
16/20 |
- |
X-19725093-C-T |
SH3KBP1 |
c.296G>A |
p.Arg99Gln |
Missense |
4/18 |
- |
X-19552693-A-G |
SH3KBP1 |
c.*1842T>C |
- |
3-UTRSNV |
18/18 |
- |
21-34014236-T-C |
SYNJ1 |
c.3675A>G |
p.Pro1225Pro |
Synonymous |
29/32 |
- |
21-34014236-T-A |
SYNJ1 |
c.3675A>T |
p.Pro1225Pro |
Synonymous |
29/32 |
- |
21-34003377-G-C |
SYNJ1 |
c.4767C>G |
p.Thr1589Thr |
Synonymous |
32/32 |
- |
21-34003502-T-C |
SYNJ1 |
c.4642A>G |
p.Ser1548Gly |
Missense |
32/32 |
- |
11-85711703-G-A |
PICALM |
c.1137C>T |
p.Thr379Thr |
Synonymous |
11/20 |
- |
11-85723343-T-C |
PICALM |
c.639A>G |
p.Glu213Glu |
Synonymous |
6/20 |
- |
11-85711703-G-T |
PICALM |
c.1137C>A |
p.Thr379Thr |
Synonymous |
11/20 |
- |
11-85692975-G-A |
PICALM |
c.1588C>T |
p.Leu530Phe |
Missense |
15/20 |
- |
X-19650083-G-T |
SH3KBP1 |
c.803-7C>A |
- |
IntronicSNV |
- |
7/17 |
X-19560216-G-A |
SH3KBP1 |
c.1719C>T |
p.Pro573Pro |
Synonymous |
16/18 |
- |
11-85723411-C-A |
PICALM |
c.571G>T |
p.Gly191Trp |
Missense |
6/20 |
- |
21-34003929-A-AGTATTA |
SYNJ1 |
c.4215_4216insAATACT |
p.Val1405_leu1406insAsnthr |
InFrameInsertion |
32/32 |
- |
X-19606876-C-T |
SH3KBP1 |
c.1183G>A |
p.Val395Ile |
Missense |
12/18 |
- |
21-34038255-T-A |
SYNJ1 |
c.2260A>T |
p.Met754Leu |
Missense |
17/32 |
- |
21-34038255-T-C |
SYNJ1 |
c.2260A>G |
p.Met754Val |
Missense |
17/32 |
- |
X-19606876-C-A |
SH3KBP1 |
c.1183G>T |
p.Val395Phe |
Missense |
12/18 |
- |
21-34072165-A-T |
SYNJ1 |
c.579T>A |
p.Thr193Thr |
Synonymous |
4/32 |
- |
X-19554051-C-G |
SH3KBP1 |
c.*484G>C |
- |
3-UTRSNV |
18/18 |
- |
21-34066629-A-G |
SYNJ1 |
c.823-8T>C |
- |
IntronicSNV |
- |
5/31 |
21-34003280-A-G |
SYNJ1 |
c.*25T>C |
- |
3-UTRSNV |
32/32 |
- |
11-85695008-G-A |
PICALM |
c.1417C>T |
p.Pro473Ser |
Missense |
14/20 |
- |
21-34014213-G-C |
SYNJ1 |
c.3698C>G |
p.Ala1233Gly |
Missense |
29/32 |
- |
21-34002605-G-A |
SYNJ1 |
c.*700C>T |
- |
3-UTRSNV |
32/32 |
- |
21-34011353-C-A |
SYNJ1 |
c.3897G>T |
p.Leu1299Phe |
Missense |
31/32 |
- |
11-85742582-T-A |
PICALM |
c.202A>T |
p.Thr68Ser |
Missense |
2/20 |
- |
21-34003915-C-T |
SYNJ1 |
c.4229G>A |
p.Ser1410Asn |
Missense |
32/32 |
- |
X-19555848-C-T |
SH3KBP1 |
c.1943G>A |
p.Arg648Gln |
Missense |
17/18 |
- |
21-34003594-G-A |
SYNJ1 |
c.4550C>T |
p.Pro1517Leu |
Missense |
32/32 |
- |
21-34003594-G-C |
SYNJ1 |
c.4550C>G |
p.Pro1517Arg |
Missense |
32/32 |
- |
21-34011283-G-C |
SYNJ1 |
c.3967C>G |
p.Pro1323Ala |
Missense |
31/32 |
- |
21-34012040-C-T |
SYNJ1 |
c.3755G>A |
p.Arg1252Gln |
Missense |
30/32 |
- |
X-19554160-A-G |
SH3KBP1 |
c.*375T>C |
- |
3-UTRSNV |
18/18 |
- |
11-85742582-T-C |
PICALM |
c.202A>G |
p.Thr68Ala |
Missense |
2/20 |
- |
11-85722113-G-C |
PICALM |
c.725C>G |
p.Thr242Ser |
Missense |
7/20 |
- |
X-19560228-C-G |
SH3KBP1 |
c.1707G>C |
p.Ala569Ala |
Synonymous |
16/18 |
- |
14-73664808-A-C |
PSEN1 |
c.839A>C |
p.Glu280Ala |
Missense |
8/12 |
- |
21-34003833-A-G |
SYNJ1 |
c.4311T>C |
p.Thr1437Thr |
Synonymous |
32/32 |
- |
X-19560255-G-A |
SH3KBP1 |
c.1680C>T |
p.Gly560Gly |
Synonymous |
16/18 |
- |
11-85733511-T-C |
PICALM |
c.351A>G |
p.Gly117Gly |
Synonymous |
4/20 |
- |
11-85701340-T-C |
PICALM |
c.1361A>G |
p.Asp454Gly |
Missense |
13/20 |
- |
21-34001853-G-A |
SYNJ1 |
c.*1452C>T |
- |
3-UTRSNV |
32/32 |
- |
X-19606784-C-T |
SH3KBP1 |
c.1275G>A |
p.Pro425Pro |
Synonymous |
12/18 |
- |
21-34099124-T-G |
SYNJ1 |
c.200A>C |
p.Glu67Ala |
Missense |
2/32 |
- |
21-34022594-T-C |
SYNJ1 |
c.3054A>G |
p.Glu1018Glu |
Synonymous |
23/32 |
- |
21-34025623-T-A |
SYNJ1 |
c.2966A>T |
p.Asn989Ile |
Missense |
22/32 |
- |
X-19564077-G-A |
SH3KBP1 |
c.1586C>T |
p.Ala529Val |
Missense |
15/18 |
- |
21-34018827-G-A |
SYNJ1 |
c.3240C>T |
p.Ser1080Ser |
Synonymous |
24/32 |
- |
X-19724992-C-T |
SH3KBP1 |
c.390+7G>A |
- |
IntronicSNV |
- |
4/17 |
21-34003660-G-A |
SYNJ1 |
c.4484C>T |
p.Ser1495Phe |
Missense |
32/32 |
- |
11-85692977-T-C |
PICALM |
c.1586A>G |
p.Lys529Arg |
Missense |
15/20 |
- |
11-85779766-G-C |
PICALM |
c.57C>G |
p.Gly19Gly |
Synonymous |
1/20 |
- |
11-85692977-T-A |
PICALM |
c.1586A>T |
p.Lys529Ile |
Missense |
15/20 |
- |
11-85701437-A-G |
PICALM |
c.1264T>C |
p.Phe422Leu |
Missense |
13/20 |
- |
11-85737414-A-C |
PICALM |
c.274-5T>G |
- |
IntronicSNV |
- |
2/19 |
11-85701437-A-C |
PICALM |
c.1264T>G |
p.Phe422Val |
Missense |
13/20 |
- |
X-19564076-C-T |
SH3KBP1 |
c.1587G>A |
p.Ala529Ala |
Synonymous |
15/18 |
- |
11-85742641-C-T |
PICALM |
c.143G>A |
p.Cys48Tyr |
Missense |
2/20 |
- |
X-19724992-C-G |
SH3KBP1 |
c.390+7G>C |
- |
IntronicSNV |
- |
4/17 |
11-85670067-A-C |
PICALM |
c.*22T>G |
- |
3-UTRSNV |
20/20 |
- |
11-85694986-T-C |
PICALM |
c.1439A>G |
p.His480Arg |
Missense |
14/20 |
- |
21-34072172-T-C |
SYNJ1 |
c.572A>G |
p.Gln191Arg |
Missense |
4/32 |
- |
21-34038870-T-G |
SYNJ1 |
c.1942A>C |
p.Lys648Gln |
Missense |
16/32 |
- |
21-34017979-G-C |
SYNJ1 |
c.3485C>G |
p.Pro1162Arg |
Missense |
25/32 |
- |
X-19564127-G-C |
SH3KBP1 |
c.1536C>G |
p.Pro512Pro |
Synonymous |
15/18 |
- |
21-34003365-T-C |
SYNJ1 |
c.4779A>G |
p.Val1593Val |
Synonymous |
32/32 |
- |
21-34038781-C-T |
SYNJ1 |
c.2031G>A |
p.Leu677Leu |
Synonymous |
16/32 |
- |
X-19564127-G-A |
SH3KBP1 |
c.1536C>T |
p.Pro512Pro |
Synonymous |
15/18 |
- |
21-34004105-T-C |
SYNJ1 |
c.4039A>G |
p.Thr1347Ala |
Missense |
32/32 |
- |
X-19560065-C-T |
SH3KBP1 |
c.1870G>A |
p.Glu624Lys |
Missense |
16/18 |
- |
X-19560065-C-G |
SH3KBP1 |
c.1870G>C |
p.Glu624Gln |
Missense |
16/18 |
- |
21-34072220-C-A |
SYNJ1 |
c.524G>T |
p.Gly175Val |
Missense |
4/32 |
- |
11-85718579-A-G |
PICALM |
c.807+6T>C |
- |
IntronicSNV |
- |
8/19 |
11-85685839-C-A |
PICALM |
c.1856G>T |
p.Ser619Ile |
Missense |
19/20 |
- |
21-34004010-C-A |
SYNJ1 |
c.4134G>T |
p.Gln1378His |
Missense |
32/32 |
- |
21-34004010-C-G |
SYNJ1 |
c.4134G>C |
p.Gln1378His |
Missense |
32/32 |
- |
21-34003073-G-T |
SYNJ1 |
c.*232C>A |
- |
3-UTRSNV |
32/32 |
- |
X-19568197-T-C |
SH3KBP1 |
c.1389A>G |
p.Leu463Leu |
Synonymous |
14/18 |
- |
X-19817754-T-C |
SH3KBP1 |
c.162+36489A>G |
- |
IntronicSNV |
- |
2/17 |
X-19568150-G-A |
SH3KBP1 |
c.1436C>T |
p.Pro479Leu |
Missense |
14/18 |
- |
11-85779699-G-A |
PICALM |
c.124C>T |
p.Leu42Leu |
Synonymous |
1/20 |
- |
X-19560223-G-A |
SH3KBP1 |
c.1712C>T |
p.Pro571Leu |
Missense |
16/18 |
- |
11-85694954-A-T |
PICALM |
c.1471T>A |
p.Ser491Thr |
Missense |
14/20 |
- |
21-34029307-T-G |
SYNJ1 |
c.2696+6A>C |
- |
IntronicSNV |
- |
20/31 |
21-34017988-G-T |
SYNJ1 |
c.3476C>A |
p.Pro1159Gln |
Missense |
25/32 |
- |
21-34017988-G-A |
SYNJ1 |
c.3476C>T |
p.Pro1159Leu |
Missense |
25/32 |
- |
X-19564079-G-A |
SH3KBP1 |
c.1584C>T |
p.Asp528Asp |
Synonymous |
15/18 |
- |
21-34001515-G-T |
SYNJ1 |
c.*1790C>A |
- |
3-UTRSNV |
32/32 |
- |
21-34003745-A-T |
SYNJ1 |
c.4399T>A |
p.Ser1467Thr |
Missense |
32/32 |
- |
11-85669875-T-C |
PICALM |
c.*214A>G |
- |
3-UTRSNV |
20/20 |
- |
11-85722076-T-C |
PICALM |
c.762A>G |
p.Ala254Ala |
Synonymous |
7/20 |
- |
21-34058099-T-G |
SYNJ1 |
c.1194A>C |
p.Leu398Leu |
Synonymous |
9/32 |
- |
X-19560156-C-T |
SH3KBP1 |
c.1779G>A |
p.Thr593Thr |
Synonymous |
16/18 |
- |
21-34012045-G-A |
SYNJ1 |
c.3750C>T |
p.His1250His |
Synonymous |
30/32 |
- |
21-34058076-T-C |
SYNJ1 |
c.1217A>G |
p.Asn406Ser |
Missense |
9/32 |
- |
21-34001548-T-C |
SYNJ1 |
c.*1757A>G |
- |
3-UTRSNV |
32/32 |
- |
21-34051056-C-G |
SYNJ1 |
c.1526G>C |
p.Ser509Thr |
Missense |
12/32 |
- |
21-34014248-T-A |
SYNJ1 |
c.3663A>T |
p.Gly1221Gly |
Synonymous |
29/32 |
- |
21-34014248-T-C |
SYNJ1 |
c.3663A>G |
p.Gly1221Gly |
Synonymous |
29/32 |
- |
21-34002212-G-C |
SYNJ1 |
c.*1093C>G |
- |
3-UTRSNV |
32/32 |
- |
11-85711757-T-C |
PICALM |
c.1083A>G |
p.Val361Val |
Synonymous |
11/20 |
- |
11-85723411-C-G |
PICALM |
c.571G>C |
p.Gly191Arg |
Missense |
6/20 |
- |
21-34029163-C-T |
SYNJ1 |
c.2746G>A |
p.Glu916Lys |
Missense |
21/32 |
- |
11-85687682-A-G |
PICALM |
c.1823T>C |
p.Met608Thr |
Missense |
18/20 |
- |
21-34022656-A-C |
SYNJ1 |
c.2992T>G |
p.Leu998Val |
Missense |
23/32 |
- |
11-85779870-T-A |
PICALM |
c.1-48A>T |
- |
5-UTRSNV |
1/20 |
- |
21-34099086-G-A |
SYNJ1 |
c.238C>T |
p.Leu80Phe |
Missense |
2/32 |
- |
21-34018890-A-T |
SYNJ1 |
c.3177T>A |
p.Ala1059Ala |
Synonymous |
24/32 |
- |
21-34003880-T-G |
SYNJ1 |
c.4264A>C |
p.Ser1422Arg |
Missense |
32/32 |
- |
X-19553368-C-T |
SH3KBP1 |
c.*1167G>A |
- |
3-UTRSNV |
18/18 |
- |
21-34011430-T-A |
SYNJ1 |
c.3820A>T |
p.Thr1274Ser |
Missense |
31/32 |
- |
21-34011430-T-C |
SYNJ1 |
c.3820A>G |
p.Thr1274Ala |
Missense |
31/32 |
- |
21-34011221-C-A |
SYNJ1 |
c.4029G>T |
p.Pro1343Pro |
Synonymous |
31/32 |
- |
21-34072301-T-C |
SYNJ1 |
c.443A>G |
p.Asp148Gly |
Missense |
4/32 |
- |
11-85695012-G-T |
PICALM |
c.1413C>A |
p.Phe471Leu |
Missense |
14/20 |
- |
11-85701379-G-A |
PICALM |
c.1322C>T |
p.Thr441Ile |
Missense |
13/20 |
- |
21-34072157-C-G |
SYNJ1 |
c.587G>C |
p.Arg196Thr |
Missense |
4/32 |
- |
21-34072157-C-T |
SYNJ1 |
c.587G>A |
p.Arg196Lys |
Missense |
4/32 |
- |
21-34067555-C-T |
SYNJ1 |
c.634G>A |
p.Val212Met |
Missense |
5/32 |
- |
21-34038348-A-C |
SYNJ1 |
c.2167T>G |
p.Cys723Gly |
Missense |
17/32 |
- |
11-85723400-A-G |
PICALM |
c.582T>C |
p.Asn194Asn |
Synonymous |
6/20 |
- |
X-19568096-G-A |
SH3KBP1 |
c.1490C>T |
p.Thr497Ile |
Missense |
14/18 |
- |
21-34017305-G-A |
SYNJ1 |
c.3520C>T |
p.Pro1174Ser |
Missense |
26/32 |
- |
21-34030114-G-C |
SYNJ1 |
c.2490C>G |
p.Asp830Glu |
Missense |
19/32 |
- |
21-34059326-A-G |
SYNJ1 |
c.1027T>C |
p.Ser343Pro |
Missense |
8/32 |
- |
X-19554486-T-G |
SH3KBP1 |
c.*49A>C |
- |
3-UTRSNV |
18/18 |
- |
11-85701330-A-G |
PICALM |
c.1371T>C |
p.Thr457Thr |
Synonymous |
13/20 |
- |
21-34072222-A-G |
SYNJ1 |
c.522T>C |
p.Ser174Ser |
Synonymous |
4/32 |
- |
21-34072307-C-T |
SYNJ1 |
c.437G>A |
p.Arg146Gln |
Missense |
4/32 |
- |
21-34038317-T-C |
SYNJ1 |
c.2198A>G |
p.Gln733Arg |
Missense |
17/32 |
- |
21-34100272-C-T |
SYNJ1 |
c.80G>A |
p.Arg27Lys |
Missense |
1/32 |
- |
21-34051101-C-T |
SYNJ1 |
c.1481G>A |
p.Gly494Asp |
Missense |
12/32 |
- |
11-85712153-T-C |
PICALM |
c.942A>G |
p.Leu314Leu |
Synonymous |
10/20 |
- |
21-34002380-G-T |
SYNJ1 |
c.*925C>A |
- |
3-UTRSNV |
32/32 |
- |
21-34100265-C-T |
SYNJ1 |
c.87G>A |
p.Arg29Arg |
Synonymous |
1/32 |
- |
21-34066580-G-A |
SYNJ1 |
c.864C>T |
p.Ile288Ile |
Synonymous |
6/32 |
- |
X-19626124-C-T |
SH3KBP1 |
c.937G>A |
p.Gly313Ser |
Missense |
9/18 |
- |
X-19552189-T-TT |
SH3KBP1 |
c.*2346_*2346dup |
- |
3-UTRInsertion |
18/18 |
- |
21-34014252-G-C |
SYNJ1 |
c.3659C>G |
p.Ala1220Gly |
Missense |
29/32 |
- |
21-34003348-A-C |
SYNJ1 |
c.4796T>G |
p.Leu1599Trp |
Missense |
32/32 |
- |
11-85694994-T-G |
PICALM |
c.1431A>C |
p.Ala477Ala |
Synonymous |
14/20 |
- |
11-85714456-T-C |
PICALM |
c.846A>G |
p.Leu282Leu |
Synonymous |
9/20 |
- |
11-85779799-G-A |
PICALM |
c.24C>T |
p.Asp8Asp |
Synonymous |
1/20 |
- |
11-85692249-C-T |
PICALM |
c.1702G>A |
p.Gly568Ser |
Missense |
17/20 |
- |
11-85711816-G-A |
PICALM |
c.1024C>T |
p.Arg342Cys |
Missense |
11/20 |
- |
11-85692210-T-G |
PICALM |
c.1741A>C |
p.Lys581Gln |
Missense |
17/20 |
- |
21-34100265-C-G |
SYNJ1 |
c.87G>C |
p.Arg29Arg |
Synonymous |
1/32 |
- |
21-34059374-T-G |
SYNJ1 |
c.979A>C |
p.Thr327Pro |
Missense |
8/32 |
- |
11-85712088-T-C |
PICALM |
c.1007A>G |
p.Lys336Arg |
Missense |
10/20 |
- |
21-34056436-C-T |
SYNJ1 |
c.1236-7G>A |
- |
IntronicSNV |
- |
9/31 |
X-19560202-A-C |
SH3KBP1 |
c.1733T>G |
p.Leu578Trp |
Missense |
16/18 |
- |
11-85692966-T-A |
PICALM |
c.1597A>T |
p.Ser533Cys |
Missense |
15/20 |
- |
21-34045841-G-A |
SYNJ1 |
c.1652C>T |
p.Ala551Val |
Missense |
14/32 |
- |
21-34022539-G-A |
SYNJ1 |
c.3109C>T |
p.Leu1037Leu |
Synonymous |
23/32 |
- |
21-34042669-C-A |
SYNJ1 |
c.1857G>T |
p.Lys619Asn |
Missense |
15/32 |
- |
21-34018870-G-A |
SYNJ1 |
c.3197C>T |
p.Pro1066Leu |
Missense |
24/32 |
- |
11-85779865-G-A |
PICALM |
c.1-43C>T |
- |
5-UTRSNV |
1/20 |
- |
21-34003630-T-A |
SYNJ1 |
c.4514A>T |
p.Asp1505Val |
Missense |
32/32 |
- |
21-34003541-A-C |
SYNJ1 |
c.4603T>G |
p.Ser1535Ala |
Missense |
32/32 |
- |
21-34003881-C-G |
SYNJ1 |
c.4263G>C |
p.Arg1421Arg |
Synonymous |
32/32 |
- |
21-34038809-G-A |
SYNJ1 |
c.2003C>T |
p.Ala668Val |
Missense |
16/32 |
- |
21-34037313-A-G |
SYNJ1 |
c.2331T>C |
p.Pro777Pro |
Synonymous |
18/32 |
- |
11-85693015-T-C |
PICALM |
c.1548A>G |
p.Pro516Pro |
Synonymous |
15/20 |
- |
21-34050962-A-G |
SYNJ1 |
c.1620T>C |
p.Ser540Ser |
Synonymous |
12/32 |
- |
21-34038887-C-T |
SYNJ1 |
c.1929-4G>A |
- |
IntronicSNV |
- |
15/31 |
11-85707932-G-A |
PICALM |
c.1195C>T |
p.Pro399Ser |
Missense |
12/20 |
- |
21-34038808-A-G |
SYNJ1 |
c.2004T>C |
p.Ala668Ala |
Synonymous |
16/32 |
- |
11-85779872-G-A |
PICALM |
c.1-50C>T |
- |
5-UTRSNV |
1/20 |
- |
11-85723397-A-G |
PICALM |
c.585T>C |
p.Ala195Ala |
Synonymous |
6/20 |
- |
X-19560157-G-A |
SH3KBP1 |
c.1778C>T |
p.Thr593Met |
Missense |
16/18 |
- |
21-34003892-T-C |
SYNJ1 |
c.4252A>G |
p.Ile1418Val |
Missense |
32/32 |
- |
11-85733453-A-C |
PICALM |
c.409T>G |
p.Ser137Ala |
Missense |
4/20 |
- |
X-19701970-C-T |
SH3KBP1 |
c.697G>A |
p.Val233Ile |
Missense |
6/18 |
- |
21-34004007-T-C |
SYNJ1 |
c.4137A>G |
p.Leu1379Leu |
Synonymous |
32/32 |
- |
X-19701998-T-C |
SH3KBP1 |
c.669A>G |
p.Pro223Pro |
Synonymous |
6/18 |
- |
21-34004018-T-C |
SYNJ1 |
c.4126A>G |
p.Lys1376Glu |
Missense |
32/32 |
- |
21-34058182-T-G |
SYNJ1 |
c.1111A>C |
p.Asn371His |
Missense |
9/32 |
- |
21-34100293-C-T |
SYNJ1 |
c.59G>A |
p.Gly20Asp |
Missense |
1/32 |
- |
11-85669999-A-C |
PICALM |
c.*90T>G |
- |
3-UTRSNV |
20/20 |
- |
11-85711732-T-G |
PICALM |
c.1108A>C |
p.Thr370Pro |
Missense |
11/20 |
- |
21-34029072-T-C |
SYNJ1 |
c.2837A>G |
p.Asn946Ser |
Missense |
21/32 |
- |
X-19568199-A-G |
SH3KBP1 |
c.1387T>C |
p.Leu463Leu |
Synonymous |
14/18 |
- |
21-34003786-C-T |
SYNJ1 |
c.4358G>A |
p.Gly1453Glu |
Missense |
32/32 |
- |
X-19568199-A-T |
SH3KBP1 |
c.1387T>A |
p.Leu463Ile |
Missense |
14/18 |
- |
21-34011306-G-A |
SYNJ1 |
c.3944C>T |
p.Pro1315Leu |
Missense |
31/32 |
- |
21-34067471-C-T |
SYNJ1 |
c.718G>A |
p.Ala240Thr |
Missense |
5/32 |
- |
21-34099076-G-A |
SYNJ1 |
c.241+7C>T |
- |
IntronicSNV |
- |
2/31 |
X-19553052-G-A |
SH3KBP1 |
c.*1483C>T |
- |
3-UTRSNV |
18/18 |
- |
21-34067471-C-A |
SYNJ1 |
c.718G>T |
p.Ala240Ser |
Missense |
5/32 |
- |
21-34067471-C-G |
SYNJ1 |
c.718G>C |
p.Ala240Pro |
Missense |
5/32 |
- |
X-19553052-G-C |
SH3KBP1 |
c.*1483C>G |
- |
3-UTRSNV |
18/18 |
- |
11-85779796-T-C |
PICALM |
c.27A>G |
p.Arg9Arg |
Synonymous |
1/20 |
- |
11-85779761-G-A |
PICALM |
c.62C>T |
p.Ala21Val |
Missense |
1/20 |
- |
21-34038308-A-G |
SYNJ1 |
c.2207T>C |
p.Val736Ala |
Missense |
17/32 |
- |
11-85779921-C-A |
PICALM |
c.1-99G>T |
- |
5-UTRSNV |
1/20 |
- |
21-34029348-G-A |
SYNJ1 |
c.2661C>T |
p.His887His |
Synonymous |
20/32 |
- |
11-85692985-A-C |
PICALM |
c.1578T>G |
p.Pro526Pro |
Synonymous |
15/20 |
- |
21-34011380-A-C |
SYNJ1 |
c.3870T>G |
p.Ser1290Ser |
Synonymous |
31/32 |
- |
11-85737338-C-T |
PICALM |
c.345G>A |
p.Leu115Leu |
Synonymous |
3/20 |
- |
21-34059354-A-G |
SYNJ1 |
c.999T>C |
p.Gly333Gly |
Synonymous |
8/32 |
- |
21-34001748-T-C |
SYNJ1 |
c.*1557A>G |
- |
3-UTRSNV |
32/32 |
- |
21-34003824-G-C |
SYNJ1 |
c.4320C>G |
p.Thr1440Thr |
Synonymous |
32/32 |
- |
X-19606803-G-A |
SH3KBP1 |
c.1256C>T |
p.Pro419Leu |
Missense |
12/18 |
- |
21-34002383-C-T |
SYNJ1 |
c.*922G>A |
- |
3-UTRSNV |
32/32 |
- |
11-85725906-A-C |
PICALM |
c.546+7T>G |
- |
IntronicSNV |
- |
5/19 |
21-34003454-C-T |
SYNJ1 |
c.4690G>A |
p.Gly1564Ser |
Missense |
32/32 |
- |
11-85707966-T-C |
PICALM |
c.1161A>G |
p.Ser387Ser |
Synonymous |
12/20 |
- |
X-19568098-G-A |
SH3KBP1 |
c.1488C>T |
p.Leu496Leu |
Synonymous |
14/18 |
- |
X-19568110-C-T |
SH3KBP1 |
c.1476G>A |
p.Pro492Pro |
Synonymous |
14/18 |
- |
21-34060659-G-A |
SYNJ1 |
c.925C>T |
p.Arg309Cys |
Missense |
7/32 |
- |
21-34072368-C-A |
SYNJ1 |
c.376G>T |
p.Val126Phe |
Missense |
4/32 |
- |
21-34001874-T-C |
SYNJ1 |
c.*1431A>G |
- |
3-UTRSNV |
32/32 |
- |
11-85733446-C-T |
PICALM |
c.416G>A |
p.Arg139Lys |
Missense |
4/20 |
- |
11-85711772-A-G |
PICALM |
c.1068T>C |
p.Thr356Thr |
Synonymous |
11/20 |
- |
11-85711725-G-A |
PICALM |
c.1115C>T |
p.Pro372Leu |
Missense |
11/20 |
- |
21-34045780-T-C |
SYNJ1 |
c.1713A>G |
p.Lys571Lys |
Synonymous |
14/32 |
- |
21-34018756-G-T |
SYNJ1 |
c.3311C>A |
p.Pro1104His |
Missense |
24/32 |
- |
21-34018756-G-C |
SYNJ1 |
c.3311C>G |
p.Pro1104Arg |
Missense |
24/32 |
- |
21-34017948-G-A |
SYNJ1 |
c.3508+8C>T |
- |
IntronicSNV |
- |
25/31 |
X-19725047-G-A |
SH3KBP1 |
c.342C>T |
p.Asp114Asp |
Synonymous |
4/18 |
- |
11-85726013-T-A |
PICALM |
c.453-7A>T |
- |
IntronicSNV |
- |
4/19 |
11-85693002-G-C |
PICALM |
c.1561C>G |
p.Gln521Glu |
Missense |
15/20 |
- |
X-19560248-G-A |
SH3KBP1 |
c.1687C>T |
p.Pro563Ser |
Missense |
16/18 |
- |
21-34066568-A-C |
SYNJ1 |
c.876T>G |
p.Val292Val |
Synonymous |
6/32 |
- |
21-34029394-T-C |
SYNJ1 |
c.2615A>G |
p.Asp872Gly |
Missense |
20/32 |
- |
X-19649997-G-A |
SH3KBP1 |
c.882C>T |
p.Val294Val |
Synonymous |
8/18 |
- |
11-85712123-C-T |
PICALM |
c.972G>A |
p.Lys324Lys |
Synonymous |
10/20 |
- |
21-34011994-T-C |
SYNJ1 |
c.3801A>G |
p.Ser1267Ser |
Synonymous |
30/32 |
- |
21-34002367-C-T |
SYNJ1 |
c.*938G>A |
- |
3-UTRSNV |
32/32 |
- |
X-19554295-T-G |
SH3KBP1 |
c.*240A>C |
- |
3-UTRSNV |
18/18 |
- |
21-34003995-C-T |
SYNJ1 |
c.4149G>A |
p.Thr1383Thr |
Synonymous |
32/32 |
- |
11-85733439-A-C |
PICALM |
c.423T>G |
p.Val141Val |
Synonymous |
4/20 |
- |
11-85779707-T-C |
PICALM |
c.116A>G |
p.Lys39Arg |
Missense |
1/20 |
- |
21-34038353-C-T |
SYNJ1 |
c.2162G>A |
p.Ser721Asn |
Missense |
17/32 |
- |
21-34030088-C-T |
SYNJ1 |
c.2516G>A |
p.Arg839His |
Missense |
19/32 |
- |
21-34072234-T-C |
SYNJ1 |
c.510A>G |
p.Ala170Ala |
Synonymous |
4/32 |
- |
21-34018756-G-A |
SYNJ1 |
c.3311C>T |
p.Pro1104Leu |
Missense |
24/32 |
- |
21-34037310-G-A |
SYNJ1 |
c.2334C>T |
p.Asn778Asn |
Synonymous |
18/32 |
- |
21-34003806-A-C |
SYNJ1 |
c.4338T>G |
p.Ser1446Arg |
Missense |
32/32 |
- |
X-19560216-G-C |
SH3KBP1 |
c.1719C>G |
p.Pro573Pro |
Synonymous |
16/18 |
- |
21-34072374-T-A |
SYNJ1 |
c.370A>T |
p.Met124Leu |
Missense |
4/32 |
- |
21-34002227-G-A |
SYNJ1 |
c.*1078C>T |
- |
3-UTRSNV |
32/32 |
- |
X-19560110-C-T |
SH3KBP1 |
c.1825G>A |
p.Val609Met |
Missense |
16/18 |
- |
21-34011363-G-T |
SYNJ1 |
c.3887C>A |
p.Ala1296Asp |
Missense |
31/32 |
- |
11-85722174-A-G |
PICALM |
c.664T>C |
p.Tyr222His |
Missense |
7/20 |
- |
21-34011336-G-C |
SYNJ1 |
c.3914C>G |
p.Pro1305Arg |
Missense |
31/32 |
- |
11-85711817-C-A |
PICALM |
c.1023G>T |
p.Gln341His |
Missense |
11/20 |
- |
X-19626151-C-T |
SH3KBP1 |
c.910G>A |
p.Val304Ile |
Missense |
9/18 |
- |
21-34003489-C-T |
SYNJ1 |
c.4655G>A |
p.Gly1552Asp |
Missense |
32/32 |
- |
X-19552337-T-C |
SH3KBP1 |
c.*2198A>G |
- |
3-UTRSNV |
18/18 |
- |
11-85687692-G-A |
PICALM |
c.1813C>T |
p.Pro605Ser |
Missense |
18/20 |
- |
21-34003941-C-T |
SYNJ1 |
c.4203G>A |
p.Thr1401Thr |
Synonymous |
32/32 |
- |
21-34015771-T-C |
SYNJ1 |
c.3548-4A>G |
- |
IntronicSNV |
- |
26/31 |
21-34100254-C-A |
SYNJ1 |
c.95+3G>T |
- |
IntronicSNV |
- |
1/31 |
21-34030084-G-A |
SYNJ1 |
c.2520C>T |
p.Thr840Thr |
Synonymous |
19/32 |
- |
11-85694992-T-C |
PICALM |
c.1433A>G |
p.Gln478Arg |
Missense |
14/20 |
- |
11-85779833-C-A |
PICALM |
c.1-11G>T |
- |
5-UTRSNV |
1/20 |
- |
21-34058051-G-A |
SYNJ1 |
c.1235+7C>T |
- |
IntronicSNV |
- |
9/31 |
21-34045799-T-C |
SYNJ1 |
c.1694A>G |
p.Lys565Arg |
Missense |
14/32 |
- |
21-34022518-C-T |
SYNJ1 |
c.3130G>A |
p.Val1044Ile |
Missense |
23/32 |
- |
21-34002586-A-G |
SYNJ1 |
c.*719T>C |
- |
3-UTRSNV |
32/32 |
- |
X-19702124-G-A |
SH3KBP1 |
c.543C>T |
p.Ser181Ser |
Synonymous |
6/18 |
- |
11-85723425-T-C |
PICALM |
c.557A>G |
p.Asn186Ser |
Missense |
6/20 |
- |
X-19613113-G-A |
SH3KBP1 |
c.1011C>T |
p.Pro337Pro |
Synonymous |
10/18 |
- |
21-34074307-C-T |
SYNJ1 |
c.292G>A |
p.Ala98Thr |
Missense |
3/32 |
- |
X-19613085-C-T |
SH3KBP1 |
c.1039G>A |
p.Val347Ile |
Missense |
10/18 |
- |
21-34074289-C-T |
SYNJ1 |
c.310G>A |
p.Val104Ile |
Missense |
3/32 |
- |
21-34018778-C-T |
SYNJ1 |
c.3289G>A |
p.Glu1097Lys |
Missense |
24/32 |
- |
11-85670019-T-C |
PICALM |
c.*70A>G |
- |
3-UTRSNV |
20/20 |
- |
21-34011391-G-A |
SYNJ1 |
c.3859C>T |
p.Pro1287Ser |
Missense |
31/32 |
- |
11-85701370-C-G |
PICALM |
c.1331G>C |
p.Ser444Thr |
Missense |
13/20 |
- |
21-34037245-A-G |
SYNJ1 |
c.2399T>C |
p.Ile800Thr |
Missense |
18/32 |
- |
X-19568182-G-A |
SH3KBP1 |
c.1404C>T |
p.Ser468Ser |
Synonymous |
14/18 |
- |
11-85737379-T-C |
PICALM |
c.304A>G |
p.Thr102Ala |
Missense |
3/20 |
- |
21-34072356-G-C |
SYNJ1 |
c.388C>G |
p.Gln130Glu |
Missense |
4/32 |
- |
11-85687703-G-C |
PICALM |
c.1802C>G |
p.Pro601Arg |
Missense |
18/20 |
- |
21-34022534-A-G |
SYNJ1 |
c.3114T>C |
p.Leu1038Leu |
Synonymous |
23/32 |
- |
21-34011257-T-A |
SYNJ1 |
c.3993A>T |
p.Ser1331Ser |
Synonymous |
31/32 |
- |
X-19854362-C-T |
SH3KBP1 |
c.43G>A |
p.Asp15Asn |
Missense |
2/18 |
- |
11-85707902-A-T |
PICALM |
c.1225T>A |
p.Ser409Thr |
Missense |
12/20 |
- |
21-34003926-C-CG |
SYNJ1 |
c.4217_4218insC |
p.Leu1406Phefs*42 |
Frameshift |
32/32 |
- |
11-85718629-G-A |
PICALM |
c.766-3C>T |
- |
IntronicSNV |
- |
7/19 |
21-34030155-C-T |
SYNJ1 |
c.2449G>A |
p.Val817Ile |
Missense |
19/32 |
- |
21-34067530-C-T |
SYNJ1 |
c.659G>A |
p.Arg220His |
Missense |
5/32 |
- |
21-34059320-C-G |
SYNJ1 |
c.1033G>C |
p.Glu345Gln |
Missense |
8/32 |
- |
21-34037356-T-C |
SYNJ1 |
c.2288A>G |
p.Tyr763Cys |
Missense |
18/32 |
- |
11-85692255-G-C |
PICALM |
c.1696C>G |
p.Gln566Glu |
Missense |
17/20 |
- |
21-34056366-C-T |
SYNJ1 |
c.1299G>A |
p.Gln433Gln |
Synonymous |
10/32 |
- |
11-85687673-T-C |
PICALM |
c.1832A>G |
p.Tyr611Cys |
Missense |
18/20 |
- |
21-34003289-T-C |
SYNJ1 |
c.*16A>G |
- |
3-UTRSNV |
32/32 |
- |
X-19564121-C-A |
SH3KBP1 |
c.1542G>T |
p.Glu514Asp |
Missense |
15/18 |
- |
21-34030090-G-A |
SYNJ1 |
c.2514C>T |
p.Cys838Cys |
Synonymous |
19/32 |
- |
21-34011286-G-C |
SYNJ1 |
c.3964C>G |
p.Pro1322Ala |
Missense |
31/32 |
- |
X-19564164-G-A |
SH3KBP1 |
c.1499C>T |
p.Ser500Phe |
Missense |
15/18 |
- |
X-19552814-G-A |
SH3KBP1 |
c.*1721C>T |
- |
3-UTRSNV |
18/18 |
- |
21-34015758-G-A |
SYNJ1 |
c.3557C>T |
p.Ala1186Val |
Missense |
27/32 |
- |
11-85711830-G-A |
PICALM |
c.1018-8C>T |
- |
IntronicSNV |
- |
10/19 |
21-34003497-T-C |
SYNJ1 |
c.4647A>G |
p.Ser1549Ser |
Synonymous |
32/32 |
- |
X-19764515-A-G |
SH3KBP1 |
c.207T>C |
p.Ala69Ala |
Synonymous |
3/18 |
- |
X-19564139-G-A |
SH3KBP1 |
c.1524C>T |
p.Asp508Asp |
Synonymous |
15/18 |
- |
X-19555870-A-G |
SH3KBP1 |
c.1921T>C |
p.Leu641Leu |
Synonymous |
17/18 |
- |
11-85701326-T-C |
PICALM |
c.1375A>G |
p.Thr459Ala |
Missense |
13/20 |
- |
X-19552814-G-T |
SH3KBP1 |
c.*1721C>A |
- |
3-UTRSNV |
18/18 |
- |
21-34001776-G-C |
SYNJ1 |
c.*1529C>G |
- |
3-UTRSNV |
32/32 |
- |
21-34011314-C-A |
SYNJ1 |
c.3936G>T |
p.Gln1312His |
Missense |
31/32 |
- |
X-19650075-G-A |
SH3KBP1 |
c.804C>T |
p.Ser268Ser |
Synonymous |
8/18 |
- |
11-85723394-G-A |
PICALM |
c.588C>T |
p.Ala196Ala |
Synonymous |
6/20 |
- |
11-85723394-G-C |
PICALM |
c.588C>G |
p.Ala196Ala |
Synonymous |
6/20 |
- |
X-19552538-C-T |
SH3KBP1 |
c.*1997G>A |
- |
3-UTRSNV |
18/18 |
- |
21-34014238-G-C |
SYNJ1 |
c.3673C>G |
p.Pro1225Ala |
Missense |
29/32 |
- |
21-34014238-G-A |
SYNJ1 |
c.3673C>T |
p.Pro1225Ser |
Missense |
29/32 |
- |
11-85723389-A-G |
PICALM |
c.593T>C |
p.Met198Thr |
Missense |
6/20 |
- |
X-19553318-C-A |
SH3KBP1 |
c.*1217G>T |
- |
3-UTRSNV |
18/18 |
- |
21-34029423-A-T |
SYNJ1 |
c.2586T>A |
p.Asp862Glu |
Missense |
20/32 |
- |
X-19560115-G-A |
SH3KBP1 |
c.1820C>T |
p.Ala607Val |
Missense |
16/18 |
- |
X-19606794-G-A |
SH3KBP1 |
c.1265C>T |
p.Pro422Leu |
Missense |
12/18 |
- |
21-34029029-C-G |
SYNJ1 |
c.2880G>C |
p.Gln960His |
Missense |
21/32 |
- |
21-34014282-A-AA |
SYNJ1 |
c.3635-5_3635-5dup |
- |
IntronicInsertion |
- |
28/31 |
21-34038439-A-C |
SYNJ1 |
c.2076T>G |
p.Val692Val |
Synonymous |
17/32 |
- |
21-34004058-G-A |
SYNJ1 |
c.4086C>T |
p.Asp1362Asp |
Synonymous |
32/32 |
- |
21-34037270-A-G |
SYNJ1 |
c.2374T>C |
p.Ser792Pro |
Missense |
18/32 |
- |
21-34037225-G-C |
SYNJ1 |
c.2419C>G |
p.Gln807Glu |
Missense |
18/32 |
- |
21-34022551-T-C |
SYNJ1 |
c.3097A>G |
p.Thr1033Ala |
Missense |
23/32 |
- |
11-85779766-G-A |
PICALM |
c.57C>T |
p.Gly19Gly |
Synonymous |
1/20 |
- |
X-19554018-A-G |
SH3KBP1 |
c.*517T>C |
- |
3-UTRSNV |
18/18 |
- |
11-85701403-A-G |
PICALM |
c.1298T>C |
p.Ile433Thr |
Missense |
13/20 |
- |
21-34003414-G-T |
SYNJ1 |
c.4730C>A |
p.Pro1577His |
Missense |
32/32 |
- |
21-34038789-C-T |
SYNJ1 |
c.2023G>A |
p.Val675Ile |
Missense |
16/32 |
- |
21-34011390-G-C |
SYNJ1 |
c.3860C>G |
p.Pro1287Arg |
Missense |
31/32 |
- |
14-73653604-T-C |
PSEN1 |
c.524T>C |
p.Phe175Ser |
Missense |
6/12 |
- |
X-19553318-C-T |
SH3KBP1 |
c.*1217G>A |
- |
3-UTRSNV |
18/18 |
- |
21-34003504-G-A |
SYNJ1 |
c.4640C>T |
p.Pro1547Leu |
Missense |
32/32 |
- |
21-34038338-C-A |
SYNJ1 |
c.2177G>T |
p.Cys726Phe |
Missense |
17/32 |
- |
11-85701332-T-C |
PICALM |
c.1369A>G |
p.Thr457Ala |
Missense |
13/20 |
- |
21-34045822-C-G |
SYNJ1 |
c.1671G>C |
p.Lys557Asn |
Missense |
14/32 |
- |
X-19854363-G-A |
SH3KBP1 |
c.42C>T |
p.His14His |
Synonymous |
2/18 |
- |
21-34014408-T-C |
SYNJ1 |
c.3631A>G |
p.Ile1211Val |
Missense |
28/32 |
- |
21-34011412-G-A |
SYNJ1 |
c.3838C>T |
p.Leu1280Leu |
Synonymous |
31/32 |
- |
21-34072293-C-A |
SYNJ1 |
c.451G>T |
p.Asp151Tyr |
Missense |
4/32 |
- |
21-34011989-G-A |
SYNJ1 |
c.3806C>T |
p.Thr1269Met |
Missense |
30/32 |
- |
14-73653589-C-T |
PSEN1 |
c.509C>T |
p.Ser170Phe |
Missense |
6/12 |
- |
X-19626104-G-A |
SH3KBP1 |
c.957C>T |
p.Pro319Pro |
Synonymous |
9/18 |
- |
21-34003983-G-T |
SYNJ1 |
c.4161C>A |
p.Pro1387Pro |
Synonymous |
32/32 |
- |
11-85742648-T-C |
PICALM |
c.136A>G |
p.Ile46Val |
Missense |
2/20 |
- |
X-19552278-C-T |
SH3KBP1 |
c.*2257G>A |
- |
3-UTRSNV |
18/18 |
- |
21-34003614-A-G |
SYNJ1 |
c.4530T>C |
p.Ser1510Ser |
Synonymous |
32/32 |
- |
21-34002386-T-C |
SYNJ1 |
c.*919A>G |
- |
3-UTRSNV |
32/32 |
- |
21-34011373-G-A |
SYNJ1 |
c.3877C>T |
p.Pro1293Ser |
Missense |
31/32 |
- |
21-34002226-G-T |
SYNJ1 |
c.*1079C>A |
- |
3-UTRSNV |
32/32 |
- |
21-34011326-T-G |
SYNJ1 |
c.3924A>C |
p.Ala1308Ala |
Synonymous |
31/32 |
- |
21-34011378-G-A |
SYNJ1 |
c.3872C>T |
p.Ser1291Phe |
Missense |
31/32 |
- |
X-19552278-C-G |
SH3KBP1 |
c.*2257G>C |
- |
3-UTRSNV |
18/18 |
- |
21-34099166-T-C |
SYNJ1 |
c.158A>G |
p.Asp53Gly |
Missense |
2/32 |
- |
21-34003412-G-A |
SYNJ1 |
c.4732C>T |
p.Pro1578Ser |
Missense |
32/32 |
- |
21-34011368-C-T |
SYNJ1 |
c.3882G>A |
p.Pro1294Pro |
Synonymous |
31/32 |
- |
21-34056342-T-G |
SYNJ1 |
c.1317+6A>C |
- |
IntronicSNV |
- |
10/31 |
21-34001316-T-C |
SYNJ1 |
c.*1989A>G |
- |
3-UTRSNV |
32/32 |
- |
21-34056342-T-C |
SYNJ1 |
c.1317+6A>G |
- |
IntronicSNV |
- |
10/31 |
21-34029387-G-T |
SYNJ1 |
c.2622C>A |
p.Ser874Arg |
Missense |
20/32 |
- |
21-34003356-G-A |
SYNJ1 |
c.4788C>T |
p.Phe1596Phe |
Synonymous |
32/32 |
- |
X-19649995-G-C |
SH3KBP1 |
c.884C>G |
p.Thr295Ser |
Missense |
8/18 |
- |
21-34022489-C-T |
SYNJ1 |
c.3154+5G>A |
- |
IntronicSNV |
- |
23/31 |
21-34060633-A-G |
SYNJ1 |
c.951T>C |
p.Asn317Asn |
Synonymous |
7/32 |
- |
21-34099111-C-T |
SYNJ1 |
c.213G>A |
p.Met71Ile |
Missense |
2/32 |
- |
21-34074352-C-T |
SYNJ1 |
c.247G>A |
p.Ala83Thr |
Missense |
3/32 |
- |
21-34051024-G-A |
SYNJ1 |
c.1558C>T |
p.Leu520Leu |
Synonymous |
12/32 |
- |
21-34018723-G-C |
SYNJ1 |
c.3344C>G |
p.Pro1115Arg |
Missense |
24/32 |
- |
X-19564064-A-G |
SH3KBP1 |
c.1599T>C |
p.Thr533Thr |
Synonymous |
15/18 |
- |
21-34003850-G-T |
SYNJ1 |
c.4294C>A |
p.Pro1432Thr |
Missense |
32/32 |
- |
21-34037273-C-A |
SYNJ1 |
c.2371G>T |
p.Asp791Tyr |
Missense |
18/32 |
- |
11-85723424-A-T |
PICALM |
c.558T>A |
p.Asn186Lys |
Missense |
6/20 |
- |
X-19560226-G-A |
SH3KBP1 |
c.1709C>T |
p.Ala570Val |
Missense |
16/18 |
- |
X-19560086-G-A |
SH3KBP1 |
c.1849C>T |
p.Arg617Cys |
Missense |
16/18 |
- |
21-34003907-G-A |
SYNJ1 |
c.4237C>T |
p.Pro1413Ser |
Missense |
32/32 |
- |
21-34053864-T-A |
SYNJ1 |
c.1412A>T |
p.Asn471Ile |
Missense |
11/32 |
- |
21-34053864-T-C |
SYNJ1 |
c.1412A>G |
p.Asn471Ser |
Missense |
11/32 |
- |
X-19564066-T-G |
SH3KBP1 |
c.1597A>C |
p.Thr533Pro |
Missense |
15/18 |
- |
21-34002041-T-C |
SYNJ1 |
c.*1264A>G |
- |
3-UTRSNV |
32/32 |
- |
21-34014219-C-A |
SYNJ1 |
c.3692G>T |
p.Ser1231Ile |
Missense |
29/32 |
- |
21-34037361-A-G |
SYNJ1 |
c.2283T>C |
p.His761His |
Synonymous |
18/32 |
- |
21-34072367-A-G |
SYNJ1 |
c.377T>C |
p.Val126Ala |
Missense |
4/32 |
- |
21-34072284-G-A |
SYNJ1 |
c.460C>T |
p.Arg154Cys |
Missense |
4/32 |
- |
21-34037317-A-G |
SYNJ1 |
c.2327T>C |
p.Leu776Pro |
Missense |
18/32 |
- |
21-34012044-C-T |
SYNJ1 |
c.3751G>A |
p.Ala1251Thr |
Missense |
30/32 |
- |
X-19553314-C-A |
SH3KBP1 |
c.*1221G>T |
- |
3-UTRSNV |
18/18 |
- |
11-85694993-G-T |
PICALM |
c.1432C>A |
p.Gln478Lys |
Missense |
14/20 |
- |
21-34011347-C-T |
SYNJ1 |
c.3903G>A |
p.Glu1301Glu |
Synonymous |
31/32 |
- |
21-34029153-T-C |
SYNJ1 |
c.2756A>G |
p.Asn919Ser |
Missense |
21/32 |
- |
21-34099098-C-A |
SYNJ1 |
c.226G>T |
p.Ala76Ser |
Missense |
2/32 |
- |
21-34029217-A-T |
SYNJ1 |
c.2697-5T>A |
- |
IntronicSNV |
- |
20/31 |
21-34056437-C-A |
SYNJ1 |
c.1236-8G>T |
- |
IntronicSNV |
- |
9/31 |
11-85779709-C-G |
PICALM |
c.114G>C |
p.Lys38Asn |
Missense |
1/20 |
- |
21-34060616-C-T |
SYNJ1 |
c.968G>A |
p.Arg323Lys |
Missense |
7/32 |
- |
21-34018754-T-C |
SYNJ1 |
c.3313A>G |
p.Ile1105Val |
Missense |
24/32 |
- |
21-34011213-C-T |
SYNJ1 |
c.4032+5G>A |
- |
IntronicSNV |
- |
31/31 |
21-34011213-C-A |
SYNJ1 |
c.4032+5G>T |
- |
IntronicSNV |
- |
31/31 |
X-19764497-G-A |
SH3KBP1 |
c.225C>T |
p.His75His |
Synonymous |
3/18 |
- |
21-34045765-G-C |
SYNJ1 |
c.1728C>G |
p.Val576Val |
Synonymous |
14/32 |
- |
21-34045765-G-A |
SYNJ1 |
c.1728C>T |
p.Val576Val |
Synonymous |
14/32 |
- |
21-34001852-C-T |
SYNJ1 |
c.*1453G>A |
- |
3-UTRSNV |
32/32 |
- |
21-34003341-A-AA |
SYNJ1 |
c.4803_4803dup |
p.Lys1602*fs*1 |
Nonsense |
32/32 |
- |
21-34066578-C-T |
SYNJ1 |
c.866G>A |
p.Arg289Gln |
Missense |
6/32 |
- |
11-85692946-G-A |
PICALM |
c.1617C>T |
p.Asp539Asp |
Synonymous |
15/20 |
- |
21-34011401-C-T |
SYNJ1 |
c.3849G>A |
p.Gln1283Gln |
Synonymous |
31/32 |
- |
21-34001474-C-T |
SYNJ1 |
c.*1831G>A |
- |
3-UTRSNV |
32/32 |
- |
X-19554530-A-G |
SH3KBP1 |
c.*5T>C |
- |
3-UTRSNV |
18/18 |
- |
X-19564171-G-A |
SH3KBP1 |
c.1495-3C>T |
- |
IntronicSNV |
- |
14/17 |
11-85723420-G-T |
PICALM |
c.562C>A |
p.Leu188Ile |
Missense |
6/20 |
- |
11-85714491-G-A |
PICALM |
c.811C>T |
p.Pro271Ser |
Missense |
9/20 |
- |
21-34045708-C-T |
SYNJ1 |
c.1785G>A |
p.Gln595Gln |
Synonymous |
14/32 |
- |
X-19554515-A-G |
SH3KBP1 |
c.*20T>C |
- |
3-UTRSNV |
18/18 |
- |
21-34038887-C-A |
SYNJ1 |
c.1929-4G>T |
- |
IntronicSNV |
- |
15/31 |
21-34018853-A-G |
SYNJ1 |
c.3214T>C |
p.Ser1072Pro |
Missense |
24/32 |
- |
21-34001824-T-C |
SYNJ1 |
c.*1481A>G |
- |
3-UTRSNV |
32/32 |
- |
21-34029084-G-C |
SYNJ1 |
c.2825C>G |
p.Ser942Cys |
Missense |
21/32 |
- |
21-34029084-G-T |
SYNJ1 |
c.2825C>A |
p.Ser942Tyr |
Missense |
21/32 |
- |
21-34001430-T-C |
SYNJ1 |
c.*1875A>G |
- |
3-UTRSNV |
32/32 |
- |
21-34004074-G-A |
SYNJ1 |
c.4070C>T |
p.Ser1357Leu |
Missense |
32/32 |
- |
21-34100283-T-C |
SYNJ1 |
c.69A>G |
p.Arg23Arg |
Synonymous |
1/32 |
- |
21-34003654-A-G |
SYNJ1 |
c.4490T>C |
p.Leu1497Pro |
Missense |
32/32 |
- |
11-85779792-T-C |
PICALM |
c.31A>G |
p.Thr11Ala |
Missense |
1/20 |
- |
21-34099201-C-T |
SYNJ1 |
c.123G>A |
p.Ala41Ala |
Synonymous |
2/32 |
- |
X-19713839-T-C |
SH3KBP1 |
c.411A>G |
p.Glu137Glu |
Synonymous |
5/18 |
- |
21-34004040-T-C |
SYNJ1 |
c.4104A>G |
p.Ser1368Ser |
Synonymous |
32/32 |
- |
21-34014215-T-C |
SYNJ1 |
c.3696A>G |
p.Thr1232Thr |
Synonymous |
29/32 |
- |
11-85722167-T-A |
PICALM |
c.671A>T |
p.Asp224Val |
Missense |
7/20 |
- |
11-85687722-G-T |
PICALM |
c.1783C>A |
p.Pro595Thr |
Missense |
18/20 |
- |
11-85685850-T-C |
PICALM |
c.1845A>G |
p.Pro615Pro |
Synonymous |
19/20 |
- |
21-34003179-A-T |
SYNJ1 |
c.*126T>A |
- |
3-UTRSNV |
32/32 |
- |
X-19568126-G-A |
SH3KBP1 |
c.1460C>T |
p.Thr487Ile |
Missense |
14/18 |
- |
21-34029372-C-T |
SYNJ1 |
c.2637G>A |
p.Thr879Thr |
Synonymous |
20/32 |
- |
11-85779939-C-T |
PICALM |
c.1-117G>A |
- |
5-UTRSNV |
1/20 |
- |
21-34002426-T-C |
SYNJ1 |
c.*879A>G |
- |
3-UTRSNV |
32/32 |
- |
21-34067499-T-C |
SYNJ1 |
c.690A>G |
p.Thr230Thr |
Synonymous |
5/32 |
- |
11-85722164-A-G |
PICALM |
c.674T>C |
p.Met225Thr |
Missense |
7/20 |
- |
11-85714497-G-A |
PICALM |
c.808-3C>T |
- |
IntronicSNV |
- |
8/19 |
14-73637521-G-A |
PSEN1 |
c.104G>A |
p.Arg35Gln |
Missense |
4/12 |
- |
X-19553483-G-A |
SH3KBP1 |
c.*1052C>T |
- |
3-UTRSNV |
18/18 |
- |
21-34060630-T-G |
SYNJ1 |
c.954A>C |
p.Ala318Ala |
Synonymous |
7/32 |
- |
21-34001107-C-T |
SYNJ1 |
c.*2198G>A |
- |
3-UTRSNV |
32/32 |
- |
X-19606785-G-T |
SH3KBP1 |
c.1274C>A |
p.Pro425Gln |
Missense |
12/18 |
- |
21-34012041-G-A |
SYNJ1 |
c.3754C>T |
p.Arg1252Trp |
Missense |
30/32 |
- |
11-85723408-C-T |
PICALM |
c.574G>A |
p.Val192Ile |
Missense |
6/20 |
- |
11-85733412-T-C |
PICALM |
c.450A>G |
p.Arg150Arg |
Synonymous |
4/20 |
- |
21-34011301-G-T |
SYNJ1 |
c.3949C>A |
p.Pro1317Thr |
Missense |
31/32 |
- |
11-85692813-C-A |
PICALM |
c.1654G>T |
p.Gly552Cys |
Missense |
16/20 |
- |
11-85692192-C-T |
PICALM |
c.1759G>A |
p.Ala587Thr |
Missense |
17/20 |
- |
11-85692192-C-A |
PICALM |
c.1759G>T |
p.Ala587Ser |
Missense |
17/20 |
- |
11-85692813-C-T |
PICALM |
c.1654G>A |
p.Gly552Ser |
Missense |
16/20 |
- |
11-85692813-C-G |
PICALM |
c.1654G>C |
p.Gly552Arg |
Missense |
16/20 |
- |
21-34022555-T-C |
SYNJ1 |
c.3093A>G |
p.Ser1031Ser |
Synonymous |
23/32 |
- |
11-85693034-A-G |
PICALM |
c.1529T>C |
p.Leu510Pro |
Missense |
15/20 |
- |
X-19713824-C-T |
SH3KBP1 |
c.426G>A |
p.Gly142Gly |
Synonymous |
5/18 |
- |
21-34003561-T-A |
SYNJ1 |
c.4583A>T |
p.Asp1528Val |
Missense |
32/32 |
- |
X-19764562-G-A |
SH3KBP1 |
c.163-3C>T |
- |
IntronicSNV |
- |
2/17 |
14-73640363-T-C |
PSEN1 |
c.428T>C |
p.Ile143Thr |
Missense |
5/12 |
- |
11-85670065-G-A |
PICALM |
c.*24C>T |
- |
3-UTRSNV |
20/20 |
- |
14-73683845-C-G |
PSEN1 |
c.1141C>G |
p.Leu381Val |
Missense |
11/12 |
- |
11-85733432-C-T |
PICALM |
c.430G>A |
p.Asp144Asn |
Missense |
4/20 |
- |
11-85692805-T-A |
PICALM |
c.1662A>T |
p.Gly554Gly |
Synonymous |
16/20 |
- |
11-85723440-G-A |
PICALM |
c.547-5C>T |
- |
IntronicSNV |
- |
5/19 |
X-19560228-C-T |
SH3KBP1 |
c.1707G>A |
p.Ala569Ala |
Synonymous |
16/18 |
- |
X-19568097-T-C |
SH3KBP1 |
c.1489A>G |
p.Thr497Ala |
Missense |
14/18 |
- |
X-19568097-T-G |
SH3KBP1 |
c.1489A>C |
p.Thr497Pro |
Missense |
14/18 |
- |
21-34060610-T-C |
SYNJ1 |
c.968+6A>G |
- |
IntronicSNV |
- |
7/31 |
21-34050976-A-C |
SYNJ1 |
c.1606T>G |
p.Leu536Val |
Missense |
12/32 |
- |
21-34037314-G-T |
SYNJ1 |
c.2330C>A |
p.Pro777His |
Missense |
18/32 |
- |
X-19554576-T-C |
SH3KBP1 |
c.1957A>G |
p.Met653Val |
Missense |
18/18 |
- |
11-85692264-T-C |
PICALM |
c.1687A>G |
p.Asn563Asp |
Missense |
17/20 |
- |
21-34029405-A-G |
SYNJ1 |
c.2604T>C |
p.Ala868Ala |
Synonymous |
20/32 |
- |
21-34011371-G-A |
SYNJ1 |
c.3879C>T |
p.Pro1293Pro |
Synonymous |
31/32 |
- |
X-19553470-C-T |
SH3KBP1 |
c.*1065G>A |
- |
3-UTRSNV |
18/18 |
- |
21-34029058-C-T |
SYNJ1 |
c.2851G>A |
p.Asp951Asn |
Missense |
21/32 |
- |
21-34022647-G-A |
SYNJ1 |
c.3001C>T |
p.Arg1001Trp |
Missense |
23/32 |
- |
21-34100294-C-T |
SYNJ1 |
c.58G>A |
p.Gly20Ser |
Missense |
1/32 |
- |
11-85692907-C-T |
PICALM |
c.1648+8G>A |
- |
IntronicSNV |
- |
15/19 |
21-34002437-T-C |
SYNJ1 |
c.*868A>G |
- |
3-UTRSNV |
32/32 |
- |
X-19552523-G-A |
SH3KBP1 |
c.*2012C>T |
- |
3-UTRSNV |
18/18 |
- |
X-19552857-C-A |
SH3KBP1 |
c.*1678G>T |
- |
3-UTRSNV |
18/18 |
- |
21-34001361-T-G |
SYNJ1 |
c.*1944A>C |
- |
3-UTRSNV |
32/32 |
- |
X-19554494-G-A |
SH3KBP1 |
c.*41C>T |
- |
3-UTRSNV |
18/18 |
- |
21-34072174-T-C |
SYNJ1 |
c.570A>G |
p.Glu190Glu |
Synonymous |
4/32 |
- |
21-34072337-C-T |
SYNJ1 |
c.407G>A |
p.Arg136Gln |
Missense |
4/32 |
- |
21-34072291-A-G |
SYNJ1 |
c.453T>C |
p.Asp151Asp |
Synonymous |
4/32 |
- |
X-19552698-T-C |
SH3KBP1 |
c.*1837A>G |
- |
3-UTRSNV |
18/18 |
- |
21-34099151-C-T |
SYNJ1 |
c.173G>A |
p.Ser58Asn |
Missense |
2/32 |
- |
21-34045817-A-G |
SYNJ1 |
c.1676T>C |
p.Met559Thr |
Missense |
14/32 |
- |
X-19568149-C-T |
SH3KBP1 |
c.1437G>A |
p.Pro479Pro |
Synonymous |
14/18 |
- |
21-34074326-T-C |
SYNJ1 |
c.273A>G |
p.Thr91Thr |
Synonymous |
3/32 |
- |
21-34002138-T-G |
SYNJ1 |
c.*1167A>C |
- |
3-UTRSNV |
32/32 |
- |
X-19555847-C-G |
SH3KBP1 |
c.1944G>C |
p.Arg648Arg |
Synonymous |
17/18 |
- |
11-85711828-A-G |
PICALM |
c.1018-6T>C |
- |
IntronicSNV |
- |
10/19 |
X-19553468-A-G |
SH3KBP1 |
c.*1067T>C |
- |
3-UTRSNV |
18/18 |
- |
21-34025636-T-C |
SYNJ1 |
c.2953A>G |
p.Ser985Gly |
Missense |
22/32 |
- |
11-85711771-C-G |
PICALM |
c.1069G>C |
p.Ala357Pro |
Missense |
11/20 |
- |
21-34001913-G-A |
SYNJ1 |
c.*1392C>T |
- |
3-UTRSNV |
32/32 |
- |
21-34003808-T-A |
SYNJ1 |
c.4336A>T |
p.Ser1446Cys |
Missense |
32/32 |
- |
X-19553762-G-C |
SH3KBP1 |
c.*773C>G |
- |
3-UTRSNV |
18/18 |
- |
21-34003808-T-C |
SYNJ1 |
c.4336A>G |
p.Ser1446Gly |
Missense |
32/32 |
- |
21-34003929-A-AGTACTA |
SYNJ1 |
c.4215_4216insAGTACT |
p.Val1405_leu1406insSerthr |
InFrameInsertion |
32/32 |
- |
11-85711809-T-C |
PICALM |
c.1031A>G |
p.Lys344Arg |
Missense |
11/20 |
- |
11-85707975-A-T |
PICALM |
c.1155-3T>A |
- |
IntronicSNV |
- |
11/19 |
11-85692816-G-T |
PICALM |
c.1651C>A |
p.Leu551Ile |
Missense |
16/20 |
- |
X-19552514-G-A |
SH3KBP1 |
c.*2021C>T |
- |
3-UTRSNV |
18/18 |
- |
21-34053931-C-G |
SYNJ1 |
c.1345G>C |
p.Gly449Arg |
Missense |
11/32 |
- |
21-34067543-C-T |
SYNJ1 |
c.646G>A |
p.Asp216Asn |
Missense |
5/32 |
- |
21-34072375-A-C |
SYNJ1 |
c.369T>G |
p.Cys123Trp |
Missense |
4/32 |
- |
21-34011225-T-C |
SYNJ1 |
c.4025A>G |
p.Gln1342Arg |
Missense |
31/32 |
- |
X-19554411-T-C |
SH3KBP1 |
c.*124A>G |
- |
3-UTRSNV |
18/18 |
- |
21-34002358-T-G |
SYNJ1 |
c.*947A>C |
- |
3-UTRSNV |
32/32 |
- |
11-85692259-C-A |
PICALM |
c.1692G>T |
p.Trp564Cys |
Missense |
17/20 |
- |
X-19560054-C-T |
SH3KBP1 |
c.1881G>A |
p.Lys627Lys |
Synonymous |
16/18 |
- |
21-34003593-C-T |
SYNJ1 |
c.4551G>A |
p.Pro1517Pro |
Synonymous |
32/32 |
- |
21-34002700-T-C |
SYNJ1 |
c.*605A>G |
- |
3-UTRSNV |
32/32 |
- |
11-85707976-G-A |
PICALM |
c.1155-4C>T |
- |
IntronicSNV |
- |
11/19 |
21-34072408-A-T |
SYNJ1 |
c.336T>A |
p.Thr112Thr |
Synonymous |
4/32 |
- |
21-34053877-T-C |
SYNJ1 |
c.1399A>G |
p.Met467Val |
Missense |
11/32 |
- |
11-85737357-A-G |
PICALM |
c.326T>C |
p.Phe109Ser |
Missense |
3/20 |
- |
21-34099196-C-T |
SYNJ1 |
c.128G>A |
p.Ser43Asn |
Missense |
2/32 |
- |
11-85692966-T-C |
PICALM |
c.1597A>G |
p.Ser533Gly |
Missense |
15/20 |
- |
21-34099232-C-A |
SYNJ1 |
c.96-4G>T |
- |
IntronicSNV |
- |
1/31 |
21-34072276-T-C |
SYNJ1 |
c.468A>G |
p.Ser156Ser |
Synonymous |
4/32 |
- |
21-34018917-G-A |
SYNJ1 |
c.3155-5C>T |
- |
IntronicSNV |
- |
23/31 |
21-34042592-G-A |
SYNJ1 |
c.1928+6C>T |
- |
IntronicSNV |
- |
15/31 |
X-19626131-C-T |
SH3KBP1 |
c.930G>A |
p.Glu310Glu |
Synonymous |
9/18 |
- |
21-34100288-C-T |
SYNJ1 |
c.64G>A |
p.Gly22Arg |
Missense |
1/32 |
- |
21-34014214-C-G |
SYNJ1 |
c.3697G>C |
p.Ala1233Pro |
Missense |
29/32 |
- |
X-19854267-A-C |
SH3KBP1 |
c.138T>G |
p.Gly46Gly |
Synonymous |
2/18 |
- |
11-85725948-T-C |
PICALM |
c.511A>G |
p.Ile171Val |
Missense |
5/20 |
- |
11-85718612-G-T |
PICALM |
c.780C>A |
p.Asp260Glu |
Missense |
8/20 |
- |
21-34003450-G-C |
SYNJ1 |
c.4694C>G |
p.Thr1565Arg |
Missense |
32/32 |
- |
21-34067523-C-T |
SYNJ1 |
c.666G>A |
p.Met222Ile |
Missense |
5/32 |
- |
21-34002688-T-C |
SYNJ1 |
c.*617A>G |
- |
3-UTRSNV |
32/32 |
- |
21-34003585-C-T |
SYNJ1 |
c.4559G>A |
p.Trp1520* |
Nonsense |
32/32 |
- |
21-34099232-C-T |
SYNJ1 |
c.96-4G>A |
- |
IntronicSNV |
- |
1/31 |
11-85726011-T-A |
PICALM |
c.453-5A>T |
- |
IntronicSNV |
- |
4/19 |
21-34011322-T-C |
SYNJ1 |
c.3928A>G |
p.Met1310Val |
Missense |
31/32 |
- |
21-34072173-G-C |
SYNJ1 |
c.571C>G |
p.Gln191Glu |
Missense |
4/32 |
- |
14-73683855-G-C |
PSEN1 |
c.1151G>C |
p.Gly384Ala |
Missense |
11/12 |
- |
21-34067413-C-A |
SYNJ1 |
c.776G>T |
p.Gly259Val |
Missense |
5/32 |
- |
21-34067413-C-T |
SYNJ1 |
c.776G>A |
p.Gly259Glu |
Missense |
5/32 |
- |
21-34038775-A-G |
SYNJ1 |
c.2037T>C |
p.Val679Val |
Synonymous |
16/32 |
- |
X-19555842-C-T |
SH3KBP1 |
c.1949G>A |
p.Arg650Gln |
Missense |
17/18 |
- |
21-34003779-T-C |
SYNJ1 |
c.4365A>G |
p.Pro1455Pro |
Synonymous |
32/32 |
- |
11-85742619-G-A |
PICALM |
c.165C>T |
p.Asn55Asn |
Synonymous |
2/20 |
- |
X-19555838-C-T |
SH3KBP1 |
c.1953G>A |
p.Leu651Leu |
Synonymous |
17/18 |
- |
21-34022540-G-A |
SYNJ1 |
c.3108C>T |
p.Thr1036Thr |
Synonymous |
23/32 |
- |
21-34060611-C-T |
SYNJ1 |
c.968+5G>A |
- |
IntronicSNV |
- |
7/31 |
21-34072187-C-T |
SYNJ1 |
c.557G>A |
p.Arg186His |
Missense |
4/32 |
- |
11-85779699-G-C |
PICALM |
c.124C>G |
p.Leu42Val |
Missense |
1/20 |
- |
X-19725088-G-C |
SH3KBP1 |
c.301C>G |
p.Arg101Gly |
Missense |
4/18 |
- |
X-19725088-G-A |
SH3KBP1 |
c.301C>T |
p.Arg101Cys |
Missense |
4/18 |
- |
X-19554509-A-T |
SH3KBP1 |
c.*26T>A |
- |
3-UTRSNV |
18/18 |
- |
11-85692912-T-C |
PICALM |
c.1648+3A>G |
- |
IntronicSNV |
- |
15/19 |
X-19764458-C-T |
SH3KBP1 |
c.264G>A |
p.Thr88Thr |
Synonymous |
3/18 |
- |
21-34003648-C-T |
SYNJ1 |
c.4496G>A |
p.Gly1499Asp |
Missense |
32/32 |
- |
21-34003303-C-T |
SYNJ1 |
c.*2G>A |
- |
3-UTRSNV |
32/32 |
- |
11-85692808-G-T |
PICALM |
c.1659C>A |
p.Ile553Ile |
Synonymous |
16/20 |
- |
21-34011985-C-A |
SYNJ1 |
c.3810G>T |
p.Ser1270Ser |
Synonymous |
30/32 |
- |
11-85692808-G-C |
PICALM |
c.1659C>G |
p.Ile553Met |
Missense |
16/20 |
- |
11-85692808-G-A |
PICALM |
c.1659C>T |
p.Ile553Ile |
Synonymous |
16/20 |
- |
X-19554349-C-G |
SH3KBP1 |
c.*186G>C |
- |
3-UTRSNV |
18/18 |
- |
21-34072206-A-G |
SYNJ1 |
c.538T>C |
p.Leu180Leu |
Synonymous |
4/32 |
- |
21-34011985-C-T |
SYNJ1 |
c.3810G>A |
p.Ser1270Ser |
Synonymous |
30/32 |
- |
21-34012042-C-T |
SYNJ1 |
c.3753G>A |
p.Ala1251Ala |
Synonymous |
30/32 |
- |
21-34060624-A-G |
SYNJ1 |
c.960T>C |
p.Ala320Ala |
Synonymous |
7/32 |
- |
21-34045823-T-C |
SYNJ1 |
c.1670A>G |
p.Lys557Arg |
Missense |
14/32 |
- |
11-85733516-T-C |
PICALM |
c.350-4A>G |
- |
IntronicSNV |
- |
3/19 |
21-34099144-T-G |
SYNJ1 |
c.180A>C |
p.Ile60Ile |
Synonymous |
2/32 |
- |
21-34099144-T-C |
SYNJ1 |
c.180A>G |
p.Ile60Met |
Missense |
2/32 |
- |
21-34029205-C-G |
SYNJ1 |
c.2704G>C |
p.Val902Leu |
Missense |
21/32 |
- |
21-34003796-C-G |
SYNJ1 |
c.4348G>C |
p.Ala1450Pro |
Missense |
32/32 |
- |
11-85733516-T-A |
PICALM |
c.350-4A>T |
- |
IntronicSNV |
- |
3/19 |
21-34072243-A-G |
SYNJ1 |
c.501T>C |
p.Phe167Phe |
Synonymous |
4/32 |
- |
11-85694999-C-A |
PICALM |
c.1426G>T |
p.Val476Phe |
Missense |
14/20 |
- |
11-85742620-T-C |
PICALM |
c.164A>G |
p.Asn55Ser |
Missense |
2/20 |
- |
X-19560085-C-T |
SH3KBP1 |
c.1850G>A |
p.Arg617His |
Missense |
16/18 |
- |
11-85701363-A-G |
PICALM |
c.1338T>C |
p.Asp446Asp |
Synonymous |
13/20 |
- |
21-34003851-A-G |
SYNJ1 |
c.4293T>C |
p.Ser1431Ser |
Synonymous |
32/32 |
- |
21-34038360-T-C |
SYNJ1 |
c.2155A>G |
p.Thr719Ala |
Missense |
17/32 |
- |
21-34018014-G-C |
SYNJ1 |
c.3450C>G |
p.Pro1150Pro |
Synonymous |
25/32 |
- |
X-19552335-A-G |
SH3KBP1 |
c.*2200T>C |
- |
3-UTRSNV |
18/18 |
- |
X-19552335-A-C |
SH3KBP1 |
c.*2200T>G |
- |
3-UTRSNV |
18/18 |
- |
11-85711817-C-T |
PICALM |
c.1023G>A |
p.Gln341Gln |
Synonymous |
11/20 |
- |
X-19553433-G-A |
SH3KBP1 |
c.*1102C>T |
- |
3-UTRSNV |
18/18 |
- |
21-34011386-C-A |
SYNJ1 |
c.3864G>T |
p.Pro1288Pro |
Synonymous |
31/32 |
- |
21-34050957-C-T |
SYNJ1 |
c.1625G>A |
p.Arg542His |
Missense |
12/32 |
- |
21-34011386-C-T |
SYNJ1 |
c.3864G>A |
p.Pro1288Pro |
Synonymous |
31/32 |
- |
21-34011253-G-A |
SYNJ1 |
c.3997C>T |
p.His1333Tyr |
Missense |
31/32 |
- |
21-34053801-T-C |
SYNJ1 |
c.1470+5A>G |
- |
IntronicSNV |
- |
11/31 |
11-85707980-G-A |
PICALM |
c.1155-8C>T |
- |
IntronicSNV |
- |
11/19 |
21-34003457-T-C |
SYNJ1 |
c.4687A>G |
p.Lys1563Glu |
Missense |
32/32 |
- |
11-85707872-C-T |
PICALM |
c.1255G>A |
p.Gly419Arg |
Missense |
12/20 |
- |
11-85692279-T-C |
PICALM |
c.1680-8A>G |
- |
IntronicSNV |
- |
16/19 |
21-34030136-T-C |
SYNJ1 |
c.2468A>G |
p.Tyr823Cys |
Missense |
19/32 |
- |
11-85692279-T-G |
PICALM |
c.1680-8A>C |
- |
IntronicSNV |
- |
16/19 |
X-19817765-T-C |
SH3KBP1 |
c.162+36478A>G |
- |
IntronicSNV |
- |
2/17 |
21-34004006-A-G |
SYNJ1 |
c.4138T>C |
p.Ser1380Pro |
Missense |
32/32 |
- |
21-34072268-C-T |
SYNJ1 |
c.476G>A |
p.Arg159Gln |
Missense |
4/32 |
- |
21-34072296-A-C |
SYNJ1 |
c.448T>G |
p.Ser150Ala |
Missense |
4/32 |
- |
21-34011366-G-A |
SYNJ1 |
c.3884C>T |
p.Pro1295Leu |
Missense |
31/32 |
- |
21-34002049-C-A |
SYNJ1 |
c.*1256G>T |
- |
3-UTRSNV |
32/32 |
- |
X-19702070-T-C |
SH3KBP1 |
c.597A>G |
p.Thr199Thr |
Synonymous |
6/18 |
- |
21-34067583-A-C |
SYNJ1 |
c.606T>G |
p.Ser202Ser |
Synonymous |
5/32 |
- |
21-34003655-G-A |
SYNJ1 |
c.4489C>T |
p.Leu1497Phe |
Missense |
32/32 |
- |
21-34003782-G-A |
SYNJ1 |
c.4362C>T |
p.Asn1454Asn |
Synonymous |
32/32 |
- |
11-85779871-G-A |
PICALM |
c.1-49C>T |
- |
5-UTRSNV |
1/20 |
- |
21-34003255-T-G |
SYNJ1 |
c.*50A>C |
- |
3-UTRSNV |
32/32 |
- |
21-34003517-G-A |
SYNJ1 |
c.4627C>T |
p.Leu1543Leu |
Synonymous |
32/32 |
- |
21-34003517-G-T |
SYNJ1 |
c.4627C>A |
p.Leu1543Met |
Missense |
32/32 |
- |
X-19854361-T-C |
SH3KBP1 |
c.44A>G |
p.Asp15Gly |
Missense |
2/18 |
- |
11-85779769-G-T |
PICALM |
c.54C>A |
p.Thr18Thr |
Synonymous |
1/20 |
- |
21-34002983-G-A |
SYNJ1 |
c.*322C>T |
- |
3-UTRSNV |
32/32 |
- |
11-85670060-T-C |
PICALM |
c.*29A>G |
- |
3-UTRSNV |
20/20 |
- |
21-34003619-G-A |
SYNJ1 |
c.4525C>T |
p.Gln1509* |
Nonsense |
32/32 |
- |
11-85701408-A-C |
PICALM |
c.1293T>G |
p.Asp431Glu |
Missense |
13/20 |
- |
11-85707889-T-C |
PICALM |
c.1238A>G |
p.Gln413Arg |
Missense |
12/20 |
- |
21-34029053-G-A |
SYNJ1 |
c.2856C>T |
p.Ala952Ala |
Synonymous |
21/32 |
- |
14-73659517-C-G |
PSEN1 |
c.714C>G |
p.Ile238Met |
Missense |
7/12 |
- |
11-85692265-T-C |
PICALM |
c.1686A>G |
p.Val562Val |
Synonymous |
17/20 |
- |
21-34001639-G-A |
SYNJ1 |
c.*1666C>T |
- |
3-UTRSNV |
32/32 |
- |
21-34014423-T-C |
SYNJ1 |
c.3616A>G |
p.Thr1206Ala |
Missense |
28/32 |
- |
21-34018757-G-A |
SYNJ1 |
c.3310C>T |
p.Pro1104Ser |
Missense |
24/32 |
- |
X-19606768-G-T |
SH3KBP1 |
c.1291C>A |
p.His431Asn |
Missense |
12/18 |
- |
21-34099169-A-G |
SYNJ1 |
c.155T>C |
p.Leu52Ser |
Missense |
2/32 |
- |
X-19701933-G-A |
SH3KBP1 |
c.726+8C>T |
- |
IntronicSNV |
- |
6/17 |
21-34100307-G-A |
SYNJ1 |
c.45C>T |
p.Gly15Gly |
Synonymous |
1/32 |
- |
21-34029425-C-A |
SYNJ1 |
c.2584G>T |
p.Asp862Tyr |
Missense |
20/32 |
- |
X-19560130-G-A |
SH3KBP1 |
c.1805C>T |
p.Ala602Val |
Missense |
16/18 |
- |
21-34029373-G-A |
SYNJ1 |
c.2636C>T |
p.Thr879Met |
Missense |
20/32 |
- |
11-85742556-G-C |
PICALM |
c.228C>G |
p.Phe76Leu |
Missense |
2/20 |
- |
21-34014429-C-G |
SYNJ1 |
c.3610G>C |
p.Gly1204Arg |
Missense |
28/32 |
- |
21-34011412-G-T |
SYNJ1 |
c.3838C>A |
p.Leu1280Met |
Missense |
31/32 |
- |
X-19552331-G-A |
SH3KBP1 |
c.*2204C>T |
- |
3-UTRSNV |
18/18 |
- |
X-19552331-G-C |
SH3KBP1 |
c.*2204C>G |
- |
3-UTRSNV |
18/18 |
- |
11-85711720-T-C |
PICALM |
c.1120A>G |
p.Ile374Val |
Missense |
11/20 |
- |
X-19587283-A-C |
SH3KBP1 |
c.1322T>G |
p.Leu441Trp |
Missense |
13/18 |
- |
X-19702004-G-T |
SH3KBP1 |
c.663C>A |
p.Asp221Glu |
Missense |
6/18 |
- |
21-34072293-C-T |
SYNJ1 |
c.451G>A |
p.Asp151Asn |
Missense |
4/32 |
- |
X-19650067-T-C |
SH3KBP1 |
c.812A>G |
p.Tyr271Cys |
Missense |
8/18 |
- |
21-34051007-A-G |
SYNJ1 |
c.1575T>C |
p.Asn525Asn |
Synonymous |
12/32 |
- |
21-34018726-G-A |
SYNJ1 |
c.3341C>T |
p.Thr1114Ile |
Missense |
24/32 |
- |
X-19564097-A-G |
SH3KBP1 |
c.1566T>C |
p.Leu522Leu |
Synonymous |
15/18 |
- |
21-34014259-G-A |
SYNJ1 |
c.3652C>T |
p.Pro1218Ser |
Missense |
29/32 |
- |
X-19702010-G-A |
SH3KBP1 |
c.657C>T |
p.Phe219Phe |
Synonymous |
6/18 |
- |
11-85779829-A-T |
PICALM |
c.1-7T>A |
- |
5-UTRSNV |
1/20 |
- |
11-85685772-A-C |
PICALM |
c.1923T>G |
p.Phe641Leu |
Missense |
19/20 |
- |
X-19568176-T-C |
SH3KBP1 |
c.1410A>G |
p.Val470Val |
Synonymous |
14/18 |
- |
11-85711815-C-T |
PICALM |
c.1025G>A |
p.Arg342His |
Missense |
11/20 |
- |
21-34025593-C-T |
SYNJ1 |
c.2991+5G>A |
- |
IntronicSNV |
- |
22/31 |
11-85711815-C-A |
PICALM |
c.1025G>T |
p.Arg342Leu |
Missense |
11/20 |
- |
11-85692181-A-C |
PICALM |
c.1770T>G |
p.Ala590Ala |
Synonymous |
17/20 |
- |
21-34003800-C-T |
SYNJ1 |
c.4344G>A |
p.Arg1448Arg |
Synonymous |
32/32 |
- |
21-34053817-C-T |
SYNJ1 |
c.1459G>A |
p.Gly487Arg |
Missense |
11/32 |
- |
14-73637671-T-C |
PSEN1 |
c.254T>C |
p.Leu85Pro |
Missense |
4/12 |
- |
14-73664760-C-T |
PSEN1 |
c.791C>T |
p.Pro264Leu |
Missense |
8/12 |
- |
21-34100302-C-T |
SYNJ1 |
c.50G>A |
p.Cys17Tyr |
Missense |
1/32 |
- |
X-19713773-C-T |
SH3KBP1 |
c.477G>A |
p.Ser159Ser |
Synonymous |
5/18 |
- |
X-19560247-G-A |
SH3KBP1 |
c.1688C>T |
p.Pro563Leu |
Missense |
16/18 |
- |
X-19854269-C-T |
SH3KBP1 |
c.136G>A |
p.Gly46Ser |
Missense |
2/18 |
- |
X-19560277-G-A |
SH3KBP1 |
c.1658C>T |
p.Pro553Leu |
Missense |
16/18 |
- |
21-34002700-T-A |
SYNJ1 |
c.*605A>T |
- |
3-UTRSNV |
32/32 |
- |
21-34072295-G-A |
SYNJ1 |
c.449C>T |
p.Ser150Leu |
Missense |
4/32 |
- |
21-34003859-G-C |
SYNJ1 |
c.4285C>G |
p.Arg1429Gly |
Missense |
32/32 |
- |
21-34003859-G-A |
SYNJ1 |
c.4285C>T |
p.Arg1429* |
Nonsense |
32/32 |
- |
21-34001768-A-G |
SYNJ1 |
c.*1537T>C |
- |
3-UTRSNV |
32/32 |
- |
11-85669984-G-C |
PICALM |
c.*105C>G |
- |
3-UTRSNV |
20/20 |
- |
21-34003511-T-C |
SYNJ1 |
c.4633A>G |
p.Asn1545Asp |
Missense |
32/32 |
- |
21-34014207-G-T |
SYNJ1 |
c.3704C>A |
p.Pro1235Gln |
Missense |
29/32 |
- |
21-34014207-G-A |
SYNJ1 |
c.3704C>T |
p.Pro1235Leu |
Missense |
29/32 |
- |
X-19560189-T-C |
SH3KBP1 |
c.1746A>G |
p.Gly582Gly |
Synonymous |
16/18 |
- |
21-34038256-A-C |
SYNJ1 |
c.2259T>G |
p.Pro753Pro |
Synonymous |
17/32 |
- |
X-19560062-T-A |
SH3KBP1 |
c.1873A>T |
p.Thr625Ser |
Missense |
16/18 |
- |
14-73673096-A-C |
PSEN1 |
c.871A>C |
p.Thr291Pro |
Missense |
9/12 |
- |
21-34001496-G-A |
SYNJ1 |
c.*1809C>T |
- |
3-UTRSNV |
32/32 |
- |
21-34060636-G-A |
SYNJ1 |
c.948C>T |
p.Ala316Ala |
Synonymous |
7/32 |
- |
X-19613091-C-G |
SH3KBP1 |
c.1033G>C |
p.Ala345Pro |
Missense |
10/18 |
- |
11-85711749-G-A |
PICALM |
c.1091C>T |
p.Ser364Leu |
Missense |
11/20 |
- |
X-19613091-C-T |
SH3KBP1 |
c.1033G>A |
p.Ala345Thr |
Missense |
10/18 |
- |
11-85737412-G-A |
PICALM |
c.274-3C>T |
- |
IntronicSNV |
- |
2/19 |
21-34067517-T-A |
SYNJ1 |
c.672A>T |
p.Gly224Gly |
Synonymous |
5/32 |
- |
11-85694901-T-C |
PICALM |
c.1516+8A>G |
- |
IntronicSNV |
- |
14/19 |
11-85685821-T-C |
PICALM |
c.1874A>G |
p.Gln625Arg |
Missense |
19/20 |
- |
21-34029048-A-G |
SYNJ1 |
c.2861T>C |
p.Ile954Thr |
Missense |
21/32 |
- |
21-34028991-T-C |
SYNJ1 |
c.2912+6A>G |
- |
IntronicSNV |
- |
21/31 |
21-34029048-A-C |
SYNJ1 |
c.2861T>G |
p.Ile954Ser |
Missense |
21/32 |
- |
21-34029183-A-G |
SYNJ1 |
c.2726T>C |
p.Ile909Thr |
Missense |
21/32 |
- |
X-19555862-T-G |
SH3KBP1 |
c.1929A>C |
p.Glu643Asp |
Missense |
17/18 |
- |
21-34001244-A-G |
SYNJ1 |
c.*2061T>C |
- |
3-UTRSNV |
32/32 |
- |
11-85714476-C-G |
PICALM |
c.826G>C |
p.Asp276His |
Missense |
9/20 |
- |
11-85714476-C-T |
PICALM |
c.826G>A |
p.Asp276Asn |
Missense |
9/20 |
- |
11-85707863-G-A |
PICALM |
c.1258+6C>T |
- |
IntronicSNV |
- |
12/19 |
11-85712114-T-G |
PICALM |
c.981A>C |
p.Ala327Ala |
Synonymous |
10/20 |
- |
11-85687678-T-C |
PICALM |
c.1827A>G |
p.Ile609Met |
Missense |
18/20 |
- |
11-85737414-A-G |
PICALM |
c.274-5T>C |
- |
IntronicSNV |
- |
2/19 |
11-85701450-G-A |
PICALM |
c.1259-8C>T |
- |
IntronicSNV |
- |
12/19 |
11-85694930-T-C |
PICALM |
c.1495A>G |
p.Asn499Asp |
Missense |
14/20 |
- |
21-34003563-C-T |
SYNJ1 |
c.4581G>A |
p.Glu1527Glu |
Synonymous |
32/32 |
- |
X-19587233-T-C |
SH3KBP1 |
c.1372A>G |
p.Ser458Gly |
Missense |
13/18 |
- |
21-34045795-A-G |
SYNJ1 |
c.1698T>C |
p.Tyr566Tyr |
Synonymous |
14/32 |
- |
11-85712114-T-A |
PICALM |
c.981A>T |
p.Ala327Ala |
Synonymous |
10/20 |
- |
X-19854408-G-A |
SH3KBP1 |
c.5-8C>T |
- |
IntronicSNV |
- |
1/17 |
21-34022588-C-T |
SYNJ1 |
c.3060G>A |
p.Met1020Ile |
Missense |
23/32 |
- |
21-34038857-A-G |
SYNJ1 |
c.1955T>C |
p.Val652Ala |
Missense |
16/32 |
- |
21-34022576-T-C |
SYNJ1 |
c.3072A>G |
p.Lys1024Lys |
Synonymous |
23/32 |
- |
21-34012056-G-A |
SYNJ1 |
c.3739C>T |
p.Pro1247Ser |
Missense |
30/32 |
- |
21-34003532-C-G |
SYNJ1 |
c.4612G>C |
p.Ala1538Pro |
Missense |
32/32 |
- |
21-34003532-C-A |
SYNJ1 |
c.4612G>T |
p.Ala1538Ser |
Missense |
32/32 |
- |
X-19553580-C-T |
SH3KBP1 |
c.*955G>A |
- |
3-UTRSNV |
18/18 |
- |
21-34014244-C-G |
SYNJ1 |
c.3667G>C |
p.Ala1223Pro |
Missense |
29/32 |
- |
21-34072292-T-A |
SYNJ1 |
c.452A>T |
p.Asp151Val |
Missense |
4/32 |
- |
X-19713740-T-C |
SH3KBP1 |
c.510A>G |
p.Leu170Leu |
Synonymous |
5/18 |
- |
X-19854318-G-A |
SH3KBP1 |
c.87C>T |
p.Ile29Ile |
Synonymous |
2/18 |
- |
11-85685809-A-G |
PICALM |
c.1886T>C |
p.Ile629Thr |
Missense |
19/20 |
- |
21-34029205-C-T |
SYNJ1 |
c.2704G>A |
p.Val902Ile |
Missense |
21/32 |
- |
X-19649977-T-C |
SH3KBP1 |
c.897+5A>G |
- |
IntronicSNV |
- |
8/17 |
11-85712149-G-A |
PICALM |
c.946C>T |
p.Leu316Leu |
Synonymous |
10/20 |
- |
11-85733508-A-G |
PICALM |
c.354T>C |
p.Tyr118Tyr |
Synonymous |
4/20 |
- |
X-19626080-T-C |
SH3KBP1 |
c.981A>G |
p.Pro327Pro |
Synonymous |
9/18 |
- |
X-19713740-T-G |
SH3KBP1 |
c.510A>C |
p.Leu170Leu |
Synonymous |
5/18 |
- |
21-34072326-T-A |
SYNJ1 |
c.418A>T |
p.Thr140Ser |
Missense |
4/32 |
- |
X-19553948-C-T |
SH3KBP1 |
c.*587G>A |
- |
3-UTRSNV |
18/18 |
- |
21-34003602-A-G |
SYNJ1 |
c.4542T>C |
p.Ile1514Ile |
Synonymous |
32/32 |
- |
21-34030135-A-G |
SYNJ1 |
c.2469T>C |
p.Tyr823Tyr |
Synonymous |
19/32 |
- |
11-85714470-A-G |
PICALM |
c.832T>C |
p.Leu278Leu |
Synonymous |
9/20 |
- |
X-19560059-T-A |
SH3KBP1 |
c.1876A>T |
p.Met626Leu |
Missense |
16/18 |
- |
21-34028990-A-G |
SYNJ1 |
c.2912+7T>C |
- |
IntronicSNV |
- |
21/31 |
21-34037301-A-T |
SYNJ1 |
c.2343T>A |
p.Val781Val |
Synonymous |
18/32 |
- |
X-19560229-G-A |
SH3KBP1 |
c.1706C>T |
p.Ala569Val |
Missense |
16/18 |
- |
21-34015765-T-C |
SYNJ1 |
c.3550A>G |
p.Ile1184Val |
Missense |
27/32 |
- |
21-34100319-A-C |
SYNJ1 |
c.33T>G |
p.Ser11Arg |
Missense |
1/32 |
- |
21-34025658-C-T |
SYNJ1 |
c.2931G>A |
p.Met977Ile |
Missense |
22/32 |
- |
21-34029349-T-G |
SYNJ1 |
c.2660A>C |
p.His887Pro |
Missense |
20/32 |
- |
11-85779750-T-C |
PICALM |
c.73A>G |
p.Thr25Ala |
Missense |
1/20 |
- |
21-34018740-T-C |
SYNJ1 |
c.3327A>G |
p.Arg1109Arg |
Synonymous |
24/32 |
- |
X-19724993-G-A |
SH3KBP1 |
c.390+6C>T |
- |
IntronicSNV |
- |
4/17 |
X-19560123-G-A |
SH3KBP1 |
c.1812C>T |
p.Ser604Ser |
Synonymous |
16/18 |
- |
21-34058084-A-T |
SYNJ1 |
c.1209T>A |
p.Phe403Leu |
Missense |
9/32 |
- |
11-85714430-T-C |
PICALM |
c.872A>G |
p.Lys291Arg |
Missense |
9/20 |
- |
21-34015750-T-C |
SYNJ1 |
c.3565A>G |
p.Ser1189Gly |
Missense |
27/32 |
- |
21-34002378-G-A |
SYNJ1 |
c.*927C>T |
- |
3-UTRSNV |
32/32 |
- |
21-34030156-C-T |
SYNJ1 |
c.2448G>A |
p.Lys816Lys |
Synonymous |
19/32 |
- |
11-85707905-T-C |
PICALM |
c.1222A>G |
p.Met408Val |
Missense |
12/20 |
- |
X-19560296-C-A |
SH3KBP1 |
c.1639G>T |
p.Ala547Ser |
Missense |
16/18 |
- |
X-19905583-C-G |
SH3KBP1 |
c.1-155G>C |
- |
5-UTRSNV |
1/18 |
- |
11-85694923-A-G |
PICALM |
c.1502T>C |
p.Ile501Thr |
Missense |
14/20 |
- |
X-19560285-C-T |
SH3KBP1 |
c.1650G>A |
p.Pro550Pro |
Synonymous |
16/18 |
- |
11-85669984-G-A |
PICALM |
c.*105C>T |
- |
3-UTRSNV |
20/20 |
- |
21-34018783-A-C |
SYNJ1 |
c.3284T>G |
p.Ile1095Arg |
Missense |
24/32 |
- |
11-85692187-C-G |
PICALM |
c.1764G>C |
p.Trp588Cys |
Missense |
17/20 |
- |
11-85707896-C-G |
PICALM |
c.1231G>C |
p.Ala411Pro |
Missense |
12/20 |
- |
21-34037271-A-G |
SYNJ1 |
c.2373T>C |
p.Asp791Asp |
Synonymous |
18/32 |
- |
11-85707960-C-A |
PICALM |
c.1167G>T |
p.Leu389Leu |
Synonymous |
12/20 |
- |
21-34003973-G-A |
SYNJ1 |
c.4171C>T |
p.Pro1391Ser |
Missense |
32/32 |
- |
21-34003973-G-T |
SYNJ1 |
c.4171C>A |
p.Pro1391Thr |
Missense |
32/32 |
- |
X-19553583-G-A |
SH3KBP1 |
c.*952C>T |
- |
3-UTRSNV |
18/18 |
- |
21-34003837-A-C |
SYNJ1 |
c.4307T>G |
p.Ile1436Ser |
Missense |
32/32 |
- |
X-19702076-G-A |
SH3KBP1 |
c.591C>T |
p.Asn197Asn |
Synonymous |
6/18 |
- |
21-34003725-C-T |
SYNJ1 |
c.4419G>A |
p.Glu1473Glu |
Synonymous |
32/32 |
- |
21-34011336-G-A |
SYNJ1 |
c.3914C>T |
p.Pro1305Leu |
Missense |
31/32 |
- |
X-19854278-C-G |
SH3KBP1 |
c.127G>C |
p.Gly43Arg |
Missense |
2/18 |
- |
21-34072220-C-T |
SYNJ1 |
c.524G>A |
p.Gly175Asp |
Missense |
4/32 |
- |
21-34017295-G-C |
SYNJ1 |
c.3530C>G |
p.Thr1177Ser |
Missense |
26/32 |
- |
21-34002359-C-G |
SYNJ1 |
c.*946G>C |
- |
3-UTRSNV |
32/32 |
- |
X-19554038-C-A |
SH3KBP1 |
c.*497G>T |
- |
3-UTRSNV |
18/18 |
- |
X-19626152-G-A |
SH3KBP1 |
c.909C>T |
p.Asp303Asp |
Synonymous |
9/18 |
- |
21-34037277-A-T |
SYNJ1 |
c.2367T>A |
p.Asn789Lys |
Missense |
18/32 |
- |
21-34003719-A-G |
SYNJ1 |
c.4425T>C |
p.Val1475Val |
Synonymous |
32/32 |
- |
X-19725062-G-A |
SH3KBP1 |
c.327C>T |
p.Tyr109Tyr |
Synonymous |
4/18 |
- |
X-19587311-A-G |
SH3KBP1 |
c.1299-5T>C |
- |
IntronicSNV |
- |
12/17 |
21-34067516-C-T |
SYNJ1 |
c.673G>A |
p.Gly225Arg |
Missense |
5/32 |
- |
11-85722130-G-C |
PICALM |
c.708C>G |
p.Ile236Met |
Missense |
7/20 |
- |
21-34050982-C-T |
SYNJ1 |
c.1600G>A |
p.Ala534Thr |
Missense |
12/32 |
- |
21-34099133-C-T |
SYNJ1 |
c.191G>A |
p.Arg64Lys |
Missense |
2/32 |
- |
X-19854340-A-G |
SH3KBP1 |
c.65T>C |
p.Val22Ala |
Missense |
2/18 |
- |
11-85692216-G-T |
PICALM |
c.1735C>A |
p.Gln579Lys |
Missense |
17/20 |
- |
11-85779757-T-C |
PICALM |
c.66A>G |
p.Val22Val |
Synonymous |
1/20 |
- |
11-85711764-G-A |
PICALM |
c.1076C>T |
p.Ser359Phe |
Missense |
11/20 |
- |
21-34012038-C-T |
SYNJ1 |
c.3757G>A |
p.Ala1253Thr |
Missense |
30/32 |
- |
11-85670101-T-C |
PICALM |
c.1947A>G |
p.Ile649Met |
Missense |
20/20 |
- |
X-19650080-T-A |
SH3KBP1 |
c.803-4A>T |
- |
IntronicSNV |
- |
7/17 |
X-19613083-G-A |
SH3KBP1 |
c.1041C>T |
p.Val347Val |
Synonymous |
10/18 |
- |
21-34001713-T-C |
SYNJ1 |
c.*1592A>G |
- |
3-UTRSNV |
32/32 |
- |
X-19552482-T-G |
SH3KBP1 |
c.*2053A>C |
- |
3-UTRSNV |
18/18 |
- |
21-34003322-C-A |
SYNJ1 |
c.4822G>T |
p.Asp1608Tyr |
Missense |
32/32 |
- |
21-34002523-C-G |
SYNJ1 |
c.*782G>C |
- |
3-UTRSNV |
32/32 |
- |
21-34067573-G-A |
SYNJ1 |
c.616C>T |
p.His206Tyr |
Missense |
5/32 |
- |
21-34003540-G-C |
SYNJ1 |
c.4604C>G |
p.Ser1535* |
Nonsense |
32/32 |
- |
21-34059327-T-C |
SYNJ1 |
c.1026A>G |
p.Gly342Gly |
Synonymous |
8/32 |
- |
11-85723406-T-C |
PICALM |
c.576A>G |
p.Val192Val |
Synonymous |
6/20 |
- |
21-34011387-G-C |
SYNJ1 |
c.3863C>G |
p.Pro1288Arg |
Missense |
31/32 |
- |
21-34011387-G-A |
SYNJ1 |
c.3863C>T |
p.Pro1288Leu |
Missense |
31/32 |
- |
21-34003634-A-G |
SYNJ1 |
c.4510T>C |
p.Phe1504Leu |
Missense |
32/32 |
- |
X-19610195-T-C |
SH3KBP1 |
c.1128A>G |
p.Thr376Thr |
Synonymous |
11/18 |
- |
11-85701301-A-G |
PICALM |
c.1400T>C |
p.Met467Thr |
Missense |
13/20 |
- |
X-19560190-C-G |
SH3KBP1 |
c.1745G>C |
p.Gly582Ala |
Missense |
16/18 |
- |
X-19553489-C-T |
SH3KBP1 |
c.*1046G>A |
- |
3-UTRSNV |
18/18 |
- |
21-34003513-C-A |
SYNJ1 |
c.4631G>T |
p.Gly1544Val |
Missense |
32/32 |
- |
21-34003354-G-A |
SYNJ1 |
c.4790C>T |
p.Thr1597Met |
Missense |
32/32 |
- |
X-19554269-A-T |
SH3KBP1 |
c.*266T>A |
- |
3-UTRSNV |
18/18 |
- |
21-34038865-G-C |
SYNJ1 |
c.1947C>G |
p.Leu649Leu |
Synonymous |
16/32 |
- |
21-34037262-T-C |
SYNJ1 |
c.2382A>G |
p.Ile794Met |
Missense |
18/32 |
- |
21-34022621-A-C |
SYNJ1 |
c.3027T>G |
p.Ser1009Arg |
Missense |
23/32 |
- |
11-85725984-T-C |
PICALM |
c.475A>G |
p.Met159Val |
Missense |
5/20 |
- |
X-19560215-G-T |
SH3KBP1 |
c.1720C>A |
p.Leu574Met |
Missense |
16/18 |
- |
X-19764496-C-G |
SH3KBP1 |
c.226G>C |
p.Glu76Gln |
Missense |
3/18 |
- |
X-19764496-C-T |
SH3KBP1 |
c.226G>A |
p.Glu76Lys |
Missense |
3/18 |
- |
X-19610220-C-A |
SH3KBP1 |
c.1103G>T |
p.Arg368Ile |
Missense |
11/18 |
- |
X-19560215-G-A |
SH3KBP1 |
c.1720C>T |
p.Leu574Leu |
Synonymous |
16/18 |
- |
11-85687686-C-T |
PICALM |
c.1819G>A |
p.Gly607Ser |
Missense |
18/20 |
- |
21-34002227-G-C |
SYNJ1 |
c.*1078C>G |
- |
3-UTRSNV |
32/32 |
- |
11-85725983-A-G |
PICALM |
c.476T>C |
p.Met159Thr |
Missense |
5/20 |
- |
11-85725983-A-C |
PICALM |
c.476T>G |
p.Met159Arg |
Missense |
5/20 |
- |
21-34072384-G-A |
SYNJ1 |
c.360C>T |
p.Val120Val |
Synonymous |
4/32 |
- |
21-34059380-A-G |
SYNJ1 |
c.973T>C |
p.Phe325Leu |
Missense |
8/32 |
- |
21-34037321-C-T |
SYNJ1 |
c.2323G>A |
p.Asp775Asn |
Missense |
18/32 |
- |
21-34018828-G-C |
SYNJ1 |
c.3239C>G |
p.Ser1080Cys |
Missense |
24/32 |
- |
21-34012074-C-A |
SYNJ1 |
c.3721G>T |
p.Ala1241Ser |
Missense |
30/32 |
- |
X-19554020-T-C |
SH3KBP1 |
c.*515A>G |
- |
3-UTRSNV |
18/18 |
- |
X-19854272-T-C |
SH3KBP1 |
c.133A>G |
p.Arg45Gly |
Missense |
2/18 |
- |
11-85712172-G-C |
PICALM |
c.923C>G |
p.Ser308Cys |
Missense |
10/20 |
- |
21-34015723-C-T |
SYNJ1 |
c.3592G>A |
p.Glu1198Lys |
Missense |
27/32 |
- |
11-85711800-G-T |
PICALM |
c.1040C>A |
p.Ala347Glu |
Missense |
11/20 |
- |
11-85707862-T-C |
PICALM |
c.1258+7A>G |
- |
IntronicSNV |
- |
12/19 |
11-85701319-C-A |
PICALM |
c.1382G>T |
p.Arg461Met |
Missense |
13/20 |
- |
21-34067539-C-A |
SYNJ1 |
c.650G>T |
p.Trp217Leu |
Missense |
5/32 |
- |
11-85712163-C-T |
PICALM |
c.932G>A |
p.Ser311Asn |
Missense |
10/20 |
- |
11-85711732-T-C |
PICALM |
c.1108A>G |
p.Thr370Ala |
Missense |
11/20 |
- |
21-34004094-G-A |
SYNJ1 |
c.4050C>T |
p.Ile1350Ile |
Synonymous |
32/32 |
- |
21-34037365-G-A |
SYNJ1 |
c.2279C>T |
p.Ser760Phe |
Missense |
18/32 |
- |
21-34004094-G-T |
SYNJ1 |
c.4050C>A |
p.Ile1350Ile |
Synonymous |
32/32 |
- |
21-34053910-A-G |
SYNJ1 |
c.1366T>C |
p.Leu456Leu |
Synonymous |
11/32 |
- |
21-34017281-C-T |
SYNJ1 |
c.3544G>A |
p.Gly1182Arg |
Missense |
26/32 |
- |
X-19554349-C-A |
SH3KBP1 |
c.*186G>T |
- |
3-UTRSNV |
18/18 |
- |
11-85707979-A-T |
PICALM |
c.1155-7T>A |
- |
IntronicSNV |
- |
11/19 |
21-34058131-T-C |
SYNJ1 |
c.1162A>G |
p.Ser388Gly |
Missense |
9/32 |
- |
11-85692249-C-A |
PICALM |
c.1702G>T |
p.Gly568Cys |
Missense |
17/20 |
- |
11-85692812-C-G |
PICALM |
c.1655G>C |
p.Gly552Ala |
Missense |
16/20 |
- |
21-34100254-C-G |
SYNJ1 |
c.95+3G>C |
- |
IntronicSNV |
- |
1/31 |
21-34100254-C-T |
SYNJ1 |
c.95+3G>A |
- |
IntronicSNV |
- |
1/31 |
X-19560097-C-G |
SH3KBP1 |
c.1838G>C |
p.Arg613Thr |
Missense |
16/18 |
- |
21-34002060-C-T |
SYNJ1 |
c.*1245G>A |
- |
3-UTRSNV |
32/32 |
- |
21-34029161-C-T |
SYNJ1 |
c.2748G>A |
p.Glu916Glu |
Synonymous |
21/32 |
- |
X-19764478-A-G |
SH3KBP1 |
c.244T>C |
p.Ser82Pro |
Missense |
3/18 |
- |
X-19610262-G-A |
SH3KBP1 |
c.1061C>T |
p.Thr354Ile |
Missense |
11/18 |
- |
21-34003704-G-A |
SYNJ1 |
c.4440C>T |
p.Phe1480Phe |
Synonymous |
32/32 |
- |
21-34002220-G-C |
SYNJ1 |
c.*1085C>G |
- |
3-UTRSNV |
32/32 |
- |
21-34018763-A-G |
SYNJ1 |
c.3304T>C |
p.Ser1102Pro |
Missense |
24/32 |
- |
21-34002233-G-A |
SYNJ1 |
c.*1072C>T |
- |
3-UTRSNV |
32/32 |
- |
21-34045813-A-G |
SYNJ1 |
c.1680T>C |
p.Cys560Cys |
Synonymous |
14/32 |
- |
14-73653573-T-G |
PSEN1 |
c.493T>G |
p.Trp165Gly |
Missense |
6/12 |
- |
X-19854390-T-A |
SH3KBP1 |
c.15A>T |
p.Ile5Ile |
Synonymous |
2/18 |
- |
21-34059352-T-C |
SYNJ1 |
c.1001A>G |
p.Lys334Arg |
Missense |
8/32 |
- |
21-34038854-T-G |
SYNJ1 |
c.1958A>C |
p.Glu653Ala |
Missense |
16/32 |
- |
11-85669927-C-T |
PICALM |
c.*162G>A |
- |
3-UTRSNV |
20/20 |
- |
X-19702135-T-C |
SH3KBP1 |
c.532A>G |
p.Thr178Ala |
Missense |
6/18 |
- |
21-34100297-C-T |
SYNJ1 |
c.55G>A |
p.Gly19Ser |
Missense |
1/32 |
- |
21-34100298-G-A |
SYNJ1 |
c.54C>T |
p.Gly18Gly |
Synonymous |
1/32 |
- |
21-34100298-G-T |
SYNJ1 |
c.54C>A |
p.Gly18Gly |
Synonymous |
1/32 |
- |
21-34037389-C-T |
SYNJ1 |
c.2263-8G>A |
- |
IntronicSNV |
- |
17/31 |
X-19764497-G-C |
SH3KBP1 |
c.225C>G |
p.His75Gln |
Missense |
3/18 |
- |
X-19560083-C-T |
SH3KBP1 |
c.1852G>A |
p.Glu618Lys |
Missense |
16/18 |
- |
11-85707936-C-T |
PICALM |
c.1191G>A |
p.Gln397Gln |
Synonymous |
12/20 |
- |
21-34012092-A-T |
SYNJ1 |
c.3706-3T>A |
- |
IntronicSNV |
- |
29/31 |
X-19560216-G-T |
SH3KBP1 |
c.1719C>A |
p.Pro573Pro |
Synonymous |
16/18 |
- |
21-34018105-A-G |
SYNJ1 |
c.3365-6T>C |
- |
IntronicSNV |
- |
24/31 |
11-85692221-T-G |
PICALM |
c.1730A>C |
p.Asn577Thr |
Missense |
17/20 |
- |
21-34003885-G-A |
SYNJ1 |
c.4259C>T |
p.Ala1420Val |
Missense |
32/32 |
- |
14-73659375-T-C |
PSEN1 |
c.572T>C |
p.Val191Ala |
Missense |
7/12 |
- |
11-85779745-T-C |
PICALM |
c.78A>G |
p.Val26Val |
Synonymous |
1/20 |
- |
11-85670094-T-A |
PICALM |
c.1954A>T |
p.Met652Leu |
Missense |
20/20 |
- |
11-85670100-G-C |
PICALM |
c.1948C>G |
p.Gln650Glu |
Missense |
20/20 |
- |
11-85779859-C-T |
PICALM |
c.1-37G>A |
- |
5-UTRSNV |
1/20 |
- |
11-85711692-G-A |
PICALM |
c.1148C>T |
p.Ser383Phe |
Missense |
11/20 |
- |
21-34002226-G-C |
SYNJ1 |
c.*1079C>G |
- |
3-UTRSNV |
32/32 |
- |
11-85685823-C-T |
PICALM |
c.1872G>A |
p.Thr624Thr |
Synonymous |
19/20 |
- |
21-34022522-T-C |
SYNJ1 |
c.3126A>G |
p.Ala1042Ala |
Synonymous |
23/32 |
- |
X-19702075-C-T |
SH3KBP1 |
c.592G>A |
p.Gly198Arg |
Missense |
6/18 |
- |
21-34003967-T-G |
SYNJ1 |
c.4177A>C |
p.Arg1393Arg |
Synonymous |
32/32 |
- |
21-34003938-T-A |
SYNJ1 |
c.4206A>T |
p.Gln1402His |
Missense |
32/32 |
- |
21-34003542-C-T |
SYNJ1 |
c.4602G>A |
p.Lys1534Lys |
Synonymous |
32/32 |
- |
21-34038740-G-T |
SYNJ1 |
c.2069+3C>A |
- |
IntronicSNV |
- |
16/31 |
11-85707959-G-A |
PICALM |
c.1168C>T |
p.Pro390Ser |
Missense |
12/20 |
- |
X-19606849-G-T |
SH3KBP1 |
c.1210C>A |
p.Arg404Arg |
Synonymous |
12/18 |
- |
11-85692181-A-T |
PICALM |
c.1770T>A |
p.Ala590Ala |
Synonymous |
17/20 |
- |
X-19606849-G-A |
SH3KBP1 |
c.1210C>T |
p.Arg404Trp |
Missense |
12/18 |
- |
21-34022550-G-T |
SYNJ1 |
c.3098C>A |
p.Thr1033Lys |
Missense |
23/32 |
- |
21-34003575-G-A |
SYNJ1 |
c.4569C>T |
p.Phe1523Phe |
Synonymous |
32/32 |
- |
21-34025672-C-T |
SYNJ1 |
c.2917G>A |
p.Val973Ile |
Missense |
22/32 |
- |
11-85742532-A-C |
PICALM |
c.252T>G |
p.His84Gln |
Missense |
2/20 |
- |
11-85692200-G-T |
PICALM |
c.1751C>A |
p.Pro584Gln |
Missense |
17/20 |
- |
11-85701445-G-T |
PICALM |
c.1259-3C>A |
- |
IntronicSNV |
- |
12/19 |
21-34067475-C-T |
SYNJ1 |
c.714G>A |
p.Ala238Ala |
Synonymous |
5/32 |
- |
X-19560249-C-T |
SH3KBP1 |
c.1686G>A |
p.Gly562Gly |
Synonymous |
16/18 |
- |
X-19701950-C-T |
SH3KBP1 |
c.717G>A |
p.Pro239Pro |
Synonymous |
6/18 |
- |
21-34003803-G-A |
SYNJ1 |
c.4341C>T |
p.Asp1447Asp |
Synonymous |
32/32 |
- |
21-34099174-G-C |
SYNJ1 |
c.150C>G |
p.His50Gln |
Missense |
2/32 |
- |
11-85733418-C-T |
PICALM |
c.444G>A |
p.Val148Val |
Synonymous |
4/20 |
- |
21-34099130-T-A |
SYNJ1 |
c.194A>T |
p.His65Leu |
Missense |
2/32 |
- |
21-34099130-T-G |
SYNJ1 |
c.194A>C |
p.His65Pro |
Missense |
2/32 |
- |
21-34003411-G-A |
SYNJ1 |
c.4733C>T |
p.Pro1578Leu |
Missense |
32/32 |
- |
X-19626078-G-A |
SH3KBP1 |
c.983C>T |
p.Pro328Leu |
Missense |
9/18 |
- |
X-19564142-G-A |
SH3KBP1 |
c.1521C>T |
p.Phe507Phe |
Synonymous |
15/18 |
- |
X-19552326-G-A |
SH3KBP1 |
c.*2209C>T |
- |
3-UTRSNV |
18/18 |
- |
21-34100307-G-C |
SYNJ1 |
c.45C>G |
p.Gly15Gly |
Synonymous |
1/32 |
- |
21-34045697-T-C |
SYNJ1 |
c.1796A>G |
p.Asp599Gly |
Missense |
14/32 |
- |
11-85723398-G-A |
PICALM |
c.584C>T |
p.Ala195Val |
Missense |
6/20 |
- |
21-34059281-T-C |
SYNJ1 |
c.1065+7A>G |
- |
IntronicSNV |
- |
8/31 |
11-85692251-G-A |
PICALM |
c.1700C>T |
p.Pro567Leu |
Missense |
17/20 |
- |
21-34002069-A-G |
SYNJ1 |
c.*1236T>C |
- |
3-UTRSNV |
32/32 |
- |
21-34074296-G-C |
SYNJ1 |
c.303C>G |
p.Leu101Leu |
Synonymous |
3/32 |
- |
21-34022661-C-T |
SYNJ1 |
c.2992-5G>A |
- |
IntronicSNV |
- |
22/31 |
X-19560111-G-A |
SH3KBP1 |
c.1824C>T |
p.Ala608Ala |
Synonymous |
16/18 |
- |
X-19560111-G-C |
SH3KBP1 |
c.1824C>G |
p.Ala608Ala |
Synonymous |
16/18 |
- |
21-34014220-T-C |
SYNJ1 |
c.3691A>G |
p.Ser1231Gly |
Missense |
29/32 |
- |
21-34074320-G-C |
SYNJ1 |
c.279C>G |
p.Ser93Ser |
Synonymous |
3/32 |
- |
X-19663541-G-A |
SH3KBP1 |
c.779C>T |
p.Thr260Ile |
Missense |
7/18 |
- |
21-34003382-C-T |
SYNJ1 |
c.4762G>A |
p.Gly1588Ser |
Missense |
32/32 |
- |
21-34099133-C-G |
SYNJ1 |
c.191G>C |
p.Arg64Thr |
Missense |
2/32 |
- |
X-19560139-A-G |
SH3KBP1 |
c.1796T>C |
p.Met599Thr |
Missense |
16/18 |
- |
21-34038445-C-T |
SYNJ1 |
c.2070G>A |
p.Arg690Arg |
Synonymous |
17/32 |
- |
11-85701430-G-A |
PICALM |
c.1271C>T |
p.Ala424Val |
Missense |
13/20 |
- |
X-19554520-T-G |
SH3KBP1 |
c.*15A>C |
- |
3-UTRSNV |
18/18 |
- |
21-34017321-T-C |
SYNJ1 |
c.3509-5A>G |
- |
IntronicSNV |
- |
25/31 |
21-34017321-T-A |
SYNJ1 |
c.3509-5A>T |
- |
IntronicSNV |
- |
25/31 |
21-34003845-G-A |
SYNJ1 |
c.4299C>T |
p.Asn1433Asn |
Synonymous |
32/32 |
- |
11-85723382-C-A |
PICALM |
c.600G>T |
p.Leu200Leu |
Synonymous |
6/20 |
- |
21-34011215-T-A |
SYNJ1 |
c.4032+3A>T |
- |
IntronicSNV |
- |
31/31 |
11-85711800-G-C |
PICALM |
c.1040C>G |
p.Ala347Gly |
Missense |
11/20 |
- |
21-34015775-G-T |
SYNJ1 |
c.3548-8C>A |
- |
IntronicSNV |
- |
26/31 |
X-19560236-A-T |
SH3KBP1 |
c.1699T>A |
p.Ser567Thr |
Missense |
16/18 |
- |
21-34056354-G-A |
SYNJ1 |
c.1311C>T |
p.Gly437Gly |
Synonymous |
10/32 |
- |
X-19560129-C-T |
SH3KBP1 |
c.1806G>A |
p.Ala602Ala |
Synonymous |
16/18 |
- |
21-34029161-C-G |
SYNJ1 |
c.2748G>C |
p.Glu916Asp |
Missense |
21/32 |
- |
11-85685793-G-A |
PICALM |
c.1902C>T |
p.Val634Val |
Synonymous |
19/20 |
- |
11-85685793-G-C |
PICALM |
c.1902C>G |
p.Val634Val |
Synonymous |
19/20 |
- |
21-34003297-G-A |
SYNJ1 |
c.*8C>T |
- |
3-UTRSNV |
32/32 |
- |
21-34017324-T-A |
SYNJ1 |
c.3509-8A>T |
- |
IntronicSNV |
- |
25/31 |
21-34056372-A-G |
SYNJ1 |
c.1293T>C |
p.Ser431Ser |
Synonymous |
10/32 |
- |
21-34014432-G-A |
SYNJ1 |
c.3607C>T |
p.Pro1203Ser |
Missense |
28/32 |
- |
11-85693050-A-G |
PICALM |
c.1517-4T>C |
- |
IntronicSNV |
- |
14/19 |
21-34018105-A-C |
SYNJ1 |
c.3365-6T>G |
- |
IntronicSNV |
- |
24/31 |
11-85669942-G-T |
PICALM |
c.*147C>A |
- |
3-UTRSNV |
20/20 |
- |
X-19587303-A-G |
SH3KBP1 |
c.1302T>C |
p.Gly434Gly |
Synonymous |
13/18 |
- |
21-34099201-C-A |
SYNJ1 |
c.123G>T |
p.Ala41Ala |
Synonymous |
2/32 |
- |
21-34022522-T-G |
SYNJ1 |
c.3126A>C |
p.Ala1042Ala |
Synonymous |
23/32 |
- |
21-34029351-C-A |
SYNJ1 |
c.2658G>T |
p.Leu886Leu |
Synonymous |
20/32 |
- |
21-34050984-C-T |
SYNJ1 |
c.1598G>A |
p.Arg533Gln |
Missense |
12/32 |
- |
X-19725101-G-A |
SH3KBP1 |
c.288C>T |
p.Gly96Gly |
Synonymous |
4/18 |
- |
21-34003927-A-G |
SYNJ1 |
c.4217T>C |
p.Leu1406Ser |
Missense |
32/32 |
- |
21-34002114-G-A |
SYNJ1 |
c.*1191C>T |
- |
3-UTRSNV |
32/32 |
- |
21-34029188-T-C |
SYNJ1 |
c.2721A>G |
p.Ile907Met |
Missense |
21/32 |
- |
21-34003574-C-T |
SYNJ1 |
c.4570G>A |
p.Glu1524Lys |
Missense |
32/32 |
- |
21-34059340-A-G |
SYNJ1 |
c.1013T>C |
p.Val338Ala |
Missense |
8/32 |
- |
X-19587217-T-C |
SH3KBP1 |
c.1384+4A>G |
- |
IntronicSNV |
- |
13/17 |
21-34002029-G-A |
SYNJ1 |
c.*1276C>T |
- |
3-UTRSNV |
32/32 |
- |
X-19564083-A-G |
SH3KBP1 |
c.1580T>C |
p.Val527Ala |
Missense |
15/18 |
- |
21-34002029-G-C |
SYNJ1 |
c.*1276C>G |
- |
3-UTRSNV |
32/32 |
- |
11-85712192-T-C |
PICALM |
c.903A>G |
p.Thr301Thr |
Synonymous |
10/20 |
- |
21-34017994-G-A |
SYNJ1 |
c.3470C>T |
p.Thr1157Ile |
Missense |
25/32 |
- |
X-19854376-T-C |
SH3KBP1 |
c.29A>G |
p.Tyr10Cys |
Missense |
2/18 |
- |
11-85723325-C-A |
PICALM |
c.657G>T |
p.Leu219Phe |
Missense |
6/20 |
- |
21-34002154-C-T |
SYNJ1 |
c.*1151G>A |
- |
3-UTRSNV |
32/32 |
- |
14-73678630-C-G |
PSEN1 |
c.1109C>G |
p.Ala370Gly |
Missense |
10/12 |
- |
21-34004106-T-C |
SYNJ1 |
c.4038A>G |
p.Lys1346Lys |
Synonymous |
32/32 |
- |
11-85726006-C-G |
PICALM |
c.453G>C |
p.Gly151Gly |
Synonymous |
5/20 |
- |
11-85726006-C-T |
PICALM |
c.453G>A |
p.Gly151Gly |
Synonymous |
5/20 |
- |
11-85685838-A-G |
PICALM |
c.1857T>C |
p.Ser619Ser |
Synonymous |
19/20 |
- |
X-19764501-A-G |
SH3KBP1 |
c.221T>C |
p.Leu74Pro |
Missense |
3/18 |
- |
X-19764501-A-C |
SH3KBP1 |
c.221T>G |
p.Leu74Arg |
Missense |
3/18 |
- |
21-34067360-T-C |
SYNJ1 |
c.822+7A>G |
- |
IntronicSNV |
- |
5/31 |
X-19610247-T-C |
SH3KBP1 |
c.1076A>G |
p.His359Arg |
Missense |
11/18 |
- |
21-34002592-T-G |
SYNJ1 |
c.*713A>C |
- |
3-UTRSNV |
32/32 |
- |
21-34002592-T-C |
SYNJ1 |
c.*713A>G |
- |
3-UTRSNV |
32/32 |
- |
21-34018049-C-T |
SYNJ1 |
c.3415G>A |
p.Ala1139Thr |
Missense |
25/32 |
- |
11-85711768-C-G |
PICALM |
c.1072G>C |
p.Ala358Pro |
Missense |
11/20 |
- |
21-34003883-G-A |
SYNJ1 |
c.4261C>T |
p.Arg1421Trp |
Missense |
32/32 |
- |
21-34003513-C-T |
SYNJ1 |
c.4631G>A |
p.Gly1544Asp |
Missense |
32/32 |
- |
21-34015735-T-C |
SYNJ1 |
c.3580A>G |
p.Arg1194Gly |
Missense |
27/32 |
- |
X-19553163-C-T |
SH3KBP1 |
c.*1372G>A |
- |
3-UTRSNV |
18/18 |
- |
X-19564147-T-C |
SH3KBP1 |
c.1516A>G |
p.Ile506Val |
Missense |
15/18 |
- |
21-34066616-C-T |
SYNJ1 |
c.828G>A |
p.Val276Val |
Synonymous |
6/32 |
- |
X-19713796-T-C |
SH3KBP1 |
c.454A>G |
p.Ile152Val |
Missense |
5/18 |
- |
21-34037370-T-C |
SYNJ1 |
c.2274A>G |
p.Leu758Leu |
Synonymous |
18/32 |
- |
11-85701414-A-G |
PICALM |
c.1287T>C |
p.Val429Val |
Synonymous |
13/20 |
- |
21-34003274-G-T |
SYNJ1 |
c.*31C>A |
- |
3-UTRSNV |
32/32 |
- |
11-85701414-A-C |
PICALM |
c.1287T>G |
p.Val429Val |
Synonymous |
13/20 |
- |
11-85711793-T-A |
PICALM |
c.1047A>T |
p.Lys349Asn |
Missense |
11/20 |
- |
21-34011222-G-A |
SYNJ1 |
c.4028C>T |
p.Pro1343Leu |
Missense |
31/32 |
- |
21-34011222-G-C |
SYNJ1 |
c.4028C>G |
p.Pro1343Arg |
Missense |
31/32 |
- |
11-85693046-C-G |
PICALM |
c.1517G>C |
p.Gly506Ala |
Missense |
15/20 |
- |
21-34003511-T-G |
SYNJ1 |
c.4633A>C |
p.Asn1545His |
Missense |
32/32 |
- |
11-85779826-T-C |
PICALM |
c.1-4A>G |
- |
5-UTRSNV |
1/20 |
- |
21-34003386-C-T |
SYNJ1 |
c.4758G>A |
p.Pro1586Pro |
Synonymous |
32/32 |
- |
21-34014207-G-C |
SYNJ1 |
c.3704C>G |
p.Pro1235Arg |
Missense |
29/32 |
- |
21-34037286-T-C |
SYNJ1 |
c.2358A>G |
p.Arg786Arg |
Synonymous |
18/32 |
- |
21-34003666-G-T |
SYNJ1 |
c.4478C>A |
p.Ala1493Asp |
Missense |
32/32 |
- |
X-19713835-C-T |
SH3KBP1 |
c.415G>A |
p.Val139Ile |
Missense |
5/18 |
- |
21-34038245-G-A |
SYNJ1 |
c.2262+8C>T |
- |
IntronicSNV |
- |
17/31 |
X-19650076-C-T |
SH3KBP1 |
c.803G>A |
p.Ser268Asn |
Missense |
8/18 |
- |
11-85685815-G-T |
PICALM |
c.1880C>A |
p.Thr627Asn |
Missense |
19/20 |
- |
21-34029350-G-A |
SYNJ1 |
c.2659C>T |
p.His887Tyr |
Missense |
20/32 |
- |
21-34001697-T-C |
SYNJ1 |
c.*1608A>G |
- |
3-UTRSNV |
32/32 |
- |
X-19606784-C-A |
SH3KBP1 |
c.1275G>T |
p.Pro425Pro |
Synonymous |
12/18 |
- |
21-34045726-G-T |
SYNJ1 |
c.1767C>A |
p.Ser589Arg |
Missense |
14/32 |
- |
21-34038871-C-T |
SYNJ1 |
c.1941G>A |
p.Gln647Gln |
Synonymous |
16/32 |
- |
21-34003425-C-T |
SYNJ1 |
c.4719G>A |
p.Pro1573Pro |
Synonymous |
32/32 |
- |
21-34018735-G-T |
SYNJ1 |
c.3332C>A |
p.Pro1111Gln |
Missense |
24/32 |
- |
11-85692198-T-C |
PICALM |
c.1753A>G |
p.Thr585Ala |
Missense |
17/20 |
- |
21-34003611-T-C |
SYNJ1 |
c.4533A>G |
p.Thr1511Thr |
Synonymous |
32/32 |
- |
21-34003611-T-A |
SYNJ1 |
c.4533A>T |
p.Thr1511Thr |
Synonymous |
32/32 |
- |
21-34029308-TA-TATA |
SYNJ1 |
c.2696+4_2696+5dup |
- |
IntronicInsertion |
- |
20/31 |
21-34099108-G-A |
SYNJ1 |
c.216C>T |
p.Phe72Phe |
Synonymous |
2/32 |
- |
21-34053940-C-T |
SYNJ1 |
c.1336G>A |
p.Glu446Lys |
Missense |
11/32 |
- |
21-34022662-G-A |
SYNJ1 |
c.2992-6C>T |
- |
IntronicSNV |
- |
22/31 |
X-19626077-C-T |
SH3KBP1 |
c.984G>A |
p.Pro328Pro |
Synonymous |
9/18 |
- |
11-85669951-C-T |
PICALM |
c.*138G>A |
- |
3-UTRSNV |
20/20 |
- |
21-34001355-T-C |
SYNJ1 |
c.*1950A>G |
- |
3-UTRSNV |
32/32 |
- |
11-85701449-A-T |
PICALM |
c.1259-7T>A |
- |
IntronicSNV |
- |
12/19 |
X-19587279-G-A |
SH3KBP1 |
c.1326C>T |
p.Ala442Ala |
Synonymous |
13/18 |
- |
X-19552947-A-C |
SH3KBP1 |
c.*1588T>G |
- |
3-UTRSNV |
18/18 |
- |
11-85694974-C-G |
PICALM |
c.1451G>C |
p.Gly484Ala |
Missense |
14/20 |
- |
11-85726004-G-C |
PICALM |
c.455C>G |
p.Ala152Gly |
Missense |
5/20 |
- |
21-34003102-C-A |
SYNJ1 |
c.*203G>T |
- |
3-UTRSNV |
32/32 |
- |
21-34003665-A-G |
SYNJ1 |
c.4479T>C |
p.Ala1493Ala |
Synonymous |
32/32 |
- |
X-19610189-T-G |
SH3KBP1 |
c.1134A>C |
p.Glu378Asp |
Missense |
11/18 |
- |
X-19610189-T-C |
SH3KBP1 |
c.1134A>G |
p.Glu378Glu |
Synonymous |
11/18 |
- |
21-34002365-T-C |
SYNJ1 |
c.*940A>G |
- |
3-UTRSNV |
32/32 |
- |
X-19553482-C-T |
SH3KBP1 |
c.*1053G>A |
- |
3-UTRSNV |
18/18 |
- |
X-19854342-G-A |
SH3KBP1 |
c.63C>T |
p.Ser21Ser |
Synonymous |
2/18 |
- |
X-19610246-A-G |
SH3KBP1 |
c.1077T>C |
p.His359His |
Synonymous |
11/18 |
- |
11-85701449-A-G |
PICALM |
c.1259-7T>C |
- |
IntronicSNV |
- |
12/19 |
21-34018800-G-C |
SYNJ1 |
c.3267C>G |
p.Pro1089Pro |
Synonymous |
24/32 |
- |
X-19560319-G-A |
SH3KBP1 |
c.1624-8C>T |
- |
IntronicSNV |
- |
15/17 |
X-19552522-C-T |
SH3KBP1 |
c.*2013G>A |
- |
3-UTRSNV |
18/18 |
- |
21-34007190-T-C |
SYNJ1 |
c.4033-3079A>G |
- |
IntronicSNV |
- |
31/31 |
21-34038402-T-C |
SYNJ1 |
c.2113A>G |
p.Thr705Ala |
Missense |
17/32 |
- |
11-85694974-C-T |
PICALM |
c.1451G>A |
p.Gly484Asp |
Missense |
14/20 |
- |
21-34018007-C-T |
SYNJ1 |
c.3457G>A |
p.Val1153Ile |
Missense |
25/32 |
- |
21-34030052-C-T |
SYNJ1 |
c.2552G>A |
p.Arg851Lys |
Missense |
19/32 |
- |
11-85694979-T-G |
PICALM |
c.1446A>C |
p.Ser482Ser |
Synonymous |
14/20 |
- |
X-19613092-G-A |
SH3KBP1 |
c.1032C>T |
p.Ser344Ser |
Synonymous |
10/18 |
- |
11-85722134-T-A |
PICALM |
c.704A>T |
p.Asp235Val |
Missense |
7/20 |
- |
21-34003352-T-C |
SYNJ1 |
c.4792A>G |
p.Thr1598Ala |
Missense |
32/32 |
- |
X-19606874-A-G |
SH3KBP1 |
c.1185T>C |
p.Val395Val |
Synonymous |
12/18 |
- |
21-34038430-A-G |
SYNJ1 |
c.2085T>C |
p.Asp695Asp |
Synonymous |
17/32 |
- |
21-34045650-C-A |
SYNJ1 |
c.1843G>T |
p.Asp615Tyr |
Missense |
14/32 |
- |
11-85692788-T-C |
PICALM |
c.1679A>G |
p.Asn560Ser |
Missense |
16/20 |
- |
11-85669914-C-T |
PICALM |
c.*175G>A |
- |
3-UTRSNV |
20/20 |
- |
21-34002226-G-A |
SYNJ1 |
c.*1079C>T |
- |
3-UTRSNV |
32/32 |
- |
21-34099111-C-A |
SYNJ1 |
c.213G>T |
p.Met71Ile |
Missense |
2/32 |
- |
11-85742581-G-C |
PICALM |
c.203C>G |
p.Thr68Ser |
Missense |
2/20 |
- |
21-34029084-G-A |
SYNJ1 |
c.2825C>T |
p.Ser942Phe |
Missense |
21/32 |
- |
11-85733487-C-G |
PICALM |
c.375G>C |
p.Arg125Ser |
Missense |
4/20 |
- |
X-19560072-G-T |
SH3KBP1 |
c.1863C>A |
p.Ser621Arg |
Missense |
16/18 |
- |
X-19553915-G-T |
SH3KBP1 |
c.*620C>A |
- |
3-UTRSNV |
18/18 |
- |
11-85712098-C-T |
PICALM |
c.997G>A |
p.Ala333Thr |
Missense |
10/20 |
- |
11-85779815-C-T |
PICALM |
c.8G>A |
p.Gly3Asp |
Missense |
1/20 |
- |
11-85701381-G-A |
PICALM |
c.1320C>T |
p.Leu440Leu |
Synonymous |
13/20 |
- |
11-85779929-T-C |
PICALM |
c.1-107A>G |
- |
5-UTRSNV |
1/20 |
- |
21-34029206-G-A |
SYNJ1 |
c.2703C>T |
p.Val901Val |
Synonymous |
21/32 |
- |
21-34067561-A-G |
SYNJ1 |
c.628T>C |
p.Tyr210His |
Missense |
5/32 |
- |
21-34003396-G-A |
SYNJ1 |
c.4748C>T |
p.Pro1583Leu |
Missense |
32/32 |
- |
21-34003411-G-C |
SYNJ1 |
c.4733C>G |
p.Pro1578Arg |
Missense |
32/32 |
- |
21-34018004-C-T |
SYNJ1 |
c.3460G>A |
p.Ala1154Thr |
Missense |
25/32 |
- |
11-85779729-G-C |
PICALM |
c.94C>G |
p.His32Asp |
Missense |
1/20 |
- |
21-34018001-G-T |
SYNJ1 |
c.3463C>A |
p.Pro1155Thr |
Missense |
25/32 |
- |
X-19552625-A-G |
SH3KBP1 |
c.*1910T>C |
- |
3-UTRSNV |
18/18 |
- |
21-34001638-C-T |
SYNJ1 |
c.*1667G>A |
- |
3-UTRSNV |
32/32 |
- |
X-19560244-G-T |
SH3KBP1 |
c.1691C>A |
p.Ala564Asp |
Missense |
16/18 |
- |
21-34066592-G-T |
SYNJ1 |
c.852C>A |
p.Ser284Ser |
Synonymous |
6/32 |
- |
21-34017965-G-T |
SYNJ1 |
c.3499C>A |
p.Pro1167Thr |
Missense |
25/32 |
- |
11-85687683-T-C |
PICALM |
c.1822A>G |
p.Met608Val |
Missense |
18/20 |
- |
21-34067589-A-C |
SYNJ1 |
c.600T>G |
p.Asn200Lys |
Missense |
5/32 |
- |
X-19553884-A-T |
SH3KBP1 |
c.*651T>A |
- |
3-UTRSNV |
18/18 |
- |
21-34014283-C-A |
SYNJ1 |
c.3635-7G>T |
- |
IntronicSNV |
- |
28/31 |
11-85694978-C-A |
PICALM |
c.1447G>T |
p.Ala483Ser |
Missense |
14/20 |
- |
X-19606793-C-T |
SH3KBP1 |
c.1266G>A |
p.Pro422Pro |
Synonymous |
12/18 |
- |
X-19555847-C-T |
SH3KBP1 |
c.1944G>A |
p.Arg648Arg |
Synonymous |
17/18 |
- |
21-34048669-T-C |
SYNJ1 |
c.1628-4A>G |
- |
IntronicSNV |
- |
12/31 |
21-34099100-C-T |
SYNJ1 |
c.224G>A |
p.Gly75Glu |
Missense |
2/32 |
- |
21-34099100-C-A |
SYNJ1 |
c.224G>T |
p.Gly75Val |
Missense |
2/32 |
- |
11-85742565-C-T |
PICALM |
c.219G>A |
p.Val73Val |
Synonymous |
2/20 |
- |
21-34003795-G-A |
SYNJ1 |
c.4349C>T |
p.Ala1450Val |
Missense |
32/32 |
- |
X-19713796-T-G |
SH3KBP1 |
c.454A>C |
p.Ile152Leu |
Missense |
5/18 |
- |
11-85692807-C-T |
PICALM |
c.1660G>A |
p.Gly554Arg |
Missense |
16/20 |
- |
11-85725923-A-G |
PICALM |
c.536T>C |
p.Leu179Pro |
Missense |
5/20 |
- |
21-34001565-T-C |
SYNJ1 |
c.*1740A>G |
- |
3-UTRSNV |
32/32 |
- |
21-34066600-C-T |
SYNJ1 |
c.844G>A |
p.Val282Ile |
Missense |
6/32 |
- |
21-34017950-T-G |
SYNJ1 |
c.3508+6A>C |
- |
IntronicSNV |
- |
25/31 |
21-34048673-T-C |
SYNJ1 |
c.1628-8A>G |
- |
IntronicSNV |
- |
12/31 |
21-34003618-T-A |
SYNJ1 |
c.4526A>T |
p.Gln1509Leu |
Missense |
32/32 |
- |
11-85692180-C-T |
PICALM |
c.1771G>A |
p.Ala591Thr |
Missense |
17/20 |
- |
21-34012087-C-T |
SYNJ1 |
c.3708G>A |
p.Thr1236Thr |
Synonymous |
30/32 |
- |
21-34038355-G-C |
SYNJ1 |
c.2160C>G |
p.Thr720Thr |
Synonymous |
17/32 |
- |
21-34072303-G-A |
SYNJ1 |
c.441C>T |
p.Ile147Ile |
Synonymous |
4/32 |
- |
21-34012064-A-G |
SYNJ1 |
c.3731T>C |
p.Ile1244Thr |
Missense |
30/32 |
- |
21-34017978-T-G |
SYNJ1 |
c.3486A>C |
p.Pro1162Pro |
Synonymous |
25/32 |
- |
21-34066600-C-A |
SYNJ1 |
c.844G>T |
p.Val282Phe |
Missense |
6/32 |
- |
21-34003044-A-G |
SYNJ1 |
c.*261T>C |
- |
3-UTRSNV |
32/32 |
- |
11-85692193-G-A |
PICALM |
c.1758C>T |
p.Thr586Thr |
Synonymous |
17/20 |
- |
X-19854264-C-A |
SH3KBP1 |
c.141G>T |
p.Leu47Phe |
Missense |
2/18 |
- |
X-19552469-G-T |
SH3KBP1 |
c.*2066C>A |
- |
3-UTRSNV |
18/18 |
- |
21-34059347-T-C |
SYNJ1 |
c.1006A>G |
p.Ile336Val |
Missense |
8/32 |
- |
21-34018908-A-T |
SYNJ1 |
c.3159T>A |
p.Asp1053Glu |
Missense |
24/32 |
- |
21-34038317-T-G |
SYNJ1 |
c.2198A>C |
p.Gln733Pro |
Missense |
17/32 |
- |
21-34017964-G-T |
SYNJ1 |
c.3500C>A |
p.Pro1167Gln |
Missense |
25/32 |
- |
11-85722079-A-C |
PICALM |
c.759T>G |
p.Val253Val |
Synonymous |
7/20 |
- |
21-34003929-A-AGTAATA |
SYNJ1 |
c.4215_4216insATTACT |
p.Val1405_leu1406insIlethr |
InFrameInsertion |
32/32 |
- |
21-34029101-C-T |
SYNJ1 |
c.2808G>A |
p.Leu936Leu |
Synonymous |
21/32 |
- |
11-85712144-G-C |
PICALM |
c.951C>G |
p.Thr317Thr |
Synonymous |
10/20 |
- |
21-34022649-T-C |
SYNJ1 |
c.2999A>G |
p.Asn1000Ser |
Missense |
23/32 |
- |
21-34003928-A-G |
SYNJ1 |
c.4216T>C |
p.Leu1406Leu |
Synonymous |
32/32 |
- |
21-34015763-A-G |
SYNJ1 |
c.3552T>C |
p.Ile1184Ile |
Synonymous |
27/32 |
- |
X-19560264-T-C |
SH3KBP1 |
c.1671A>G |
p.Ala557Ala |
Synonymous |
16/18 |
- |
11-85694978-C-G |
PICALM |
c.1447G>C |
p.Ala483Pro |
Missense |
14/20 |
- |
21-34018811-G-C |
SYNJ1 |
c.3256C>G |
p.Arg1086Gly |
Missense |
24/32 |
- |
21-34003210-A-AAA |
SYNJ1 |
c.4839+95_4839+96insTT |
- |
3-UTRInsertion |
32/32 |
- |
21-34053921-T-C |
SYNJ1 |
c.1355A>G |
p.Glu452Gly |
Missense |
11/32 |
- |
X-19626050-A-G |
SH3KBP1 |
c.1005+6T>C |
- |
IntronicSNV |
- |
9/17 |
21-34025657-A-G |
SYNJ1 |
c.2932T>C |
p.Trp978Arg |
Missense |
22/32 |
- |
21-34045675-C-G |
SYNJ1 |
c.1818G>C |
p.Lys606Asn |
Missense |
14/32 |
- |
21-34011411-A-G |
SYNJ1 |
c.3839T>C |
p.Leu1280Pro |
Missense |
31/32 |
- |
X-19606925-A-C |
SH3KBP1 |
c.1139-5T>G |
- |
IntronicSNV |
- |
11/17 |
11-85712144-G-A |
PICALM |
c.951C>T |
p.Thr317Thr |
Synonymous |
10/20 |
- |
11-85714448-A-G |
PICALM |
c.854T>C |
p.Leu285Ser |
Missense |
9/20 |
- |
21-34072278-A-G |
SYNJ1 |
c.466T>C |
p.Ser156Pro |
Missense |
4/32 |
- |
X-19554492-T-G |
SH3KBP1 |
c.*43A>C |
- |
3-UTRSNV |
18/18 |
- |
21-34017964-G-C |
SYNJ1 |
c.3500C>G |
p.Pro1167Arg |
Missense |
25/32 |
- |
21-34012076-C-T |
SYNJ1 |
c.3719G>A |
p.Arg1240His |
Missense |
30/32 |
- |
21-34003301-G-T |
SYNJ1 |
c.*4C>A |
- |
3-UTRSNV |
32/32 |
- |
21-34045672-T-G |
SYNJ1 |
c.1821A>C |
p.Leu607Phe |
Missense |
14/32 |
- |
21-34038826-G-C |
SYNJ1 |
c.1986C>G |
p.Asn662Lys |
Missense |
16/32 |
- |
21-34058075-A-G |
SYNJ1 |
c.1218T>C |
p.Asn406Asn |
Synonymous |
9/32 |
- |
21-34099160-G-A |
SYNJ1 |
c.164C>T |
p.Pro55Leu |
Missense |
2/32 |
- |
21-34011297-T-C |
SYNJ1 |
c.3953A>G |
p.Asn1318Ser |
Missense |
31/32 |
- |
21-34037263-A-G |
SYNJ1 |
c.2381T>C |
p.Ile794Thr |
Missense |
18/32 |
- |
21-34003405-G-A |
SYNJ1 |
c.4739C>T |
p.Pro1580Leu |
Missense |
32/32 |
- |
11-85687731-A-G |
PICALM |
c.1780-6T>C |
- |
IntronicSNV |
- |
17/19 |
21-34002004-T-A |
SYNJ1 |
c.*1301A>T |
- |
3-UTRSNV |
32/32 |
- |
21-34060656-T-C |
SYNJ1 |
c.928A>G |
p.Met310Val |
Missense |
7/32 |
- |
21-34048673-T-A |
SYNJ1 |
c.1628-8A>T |
- |
IntronicSNV |
- |
12/31 |
21-34018713-G-A |
SYNJ1 |
c.3354C>T |
p.Pro1118Pro |
Synonymous |
24/32 |
- |
11-85692810-T-C |
PICALM |
c.1657A>G |
p.Ile553Val |
Missense |
16/20 |
- |
21-34003926-C-T |
SYNJ1 |
c.4218G>A |
p.Leu1406Leu |
Synonymous |
32/32 |
- |
21-34045698-C-G |
SYNJ1 |
c.1795G>C |
p.Asp599His |
Missense |
14/32 |
- |
21-34018000-G-A |
SYNJ1 |
c.3464C>T |
p.Pro1155Leu |
Missense |
25/32 |
- |
X-19702006-C-T |
SH3KBP1 |
c.661G>A |
p.Asp221Asn |
Missense |
6/18 |
- |
11-85692965-C-T |
PICALM |
c.1598G>A |
p.Ser533Asn |
Missense |
15/20 |
- |
21-34003353-C-T |
SYNJ1 |
c.4791G>A |
p.Thr1597Thr |
Synonymous |
32/32 |
- |
21-34018722-A-G |
SYNJ1 |
c.3345T>C |
p.Pro1115Pro |
Synonymous |
24/32 |
- |
21-34038427-A-G |
SYNJ1 |
c.2088T>C |
p.Thr696Thr |
Synonymous |
17/32 |
- |
21-34029372-C-A |
SYNJ1 |
c.2637G>T |
p.Thr879Thr |
Synonymous |
20/32 |
- |
11-85711739-C-A |
PICALM |
c.1101G>T |
p.Gly367Gly |
Synonymous |
11/20 |
- |
11-85694998-A-G |
PICALM |
c.1427T>C |
p.Val476Ala |
Missense |
14/20 |
- |
X-19626095-G-A |
SH3KBP1 |
c.966C>T |
p.Phe322Phe |
Synonymous |
9/18 |
- |
X-19854348-C-G |
SH3KBP1 |
c.57G>C |
p.Thr19Thr |
Synonymous |
2/18 |
- |
X-19553125-A-G |
SH3KBP1 |
c.*1410T>C |
- |
3-UTRSNV |
18/18 |
- |
21-34011267-C-G |
SYNJ1 |
c.3983G>C |
p.Arg1328Pro |
Missense |
31/32 |
- |
21-34011267-C-T |
SYNJ1 |
c.3983G>A |
p.Arg1328Gln |
Missense |
31/32 |
- |
21-34003641-C-T |
SYNJ1 |
c.4503G>A |
p.Lys1501Lys |
Synonymous |
32/32 |
- |
X-19587259-A-G |
SH3KBP1 |
c.1346T>C |
p.Ile449Thr |
Missense |
13/18 |
- |
21-34003625-G-A |
SYNJ1 |
c.4519C>T |
p.Gln1507* |
Nonsense |
32/32 |
- |
X-19587259-A-T |
SH3KBP1 |
c.1346T>A |
p.Ile449Asn |
Missense |
13/18 |
- |
11-85742523-C-T |
PICALM |
c.261G>A |
p.Val87Val |
Synonymous |
2/20 |
- |
21-34014243-G-A |
SYNJ1 |
c.3668C>T |
p.Ala1223Val |
Missense |
29/32 |
- |
21-34003909-A-G |
SYNJ1 |
c.4235T>C |
p.Met1412Thr |
Missense |
32/32 |
- |
21-34042681-A-G |
SYNJ1 |
c.1845T>C |
p.Asp615Asp |
Synonymous |
15/32 |
- |
X-19560254-C-T |
SH3KBP1 |
c.1681G>A |
p.Gly561Ser |
Missense |
16/18 |
- |
11-85685782-G-C |
PICALM |
c.1913C>G |
p.Pro638Arg |
Missense |
19/20 |
- |
21-34011325-G-T |
SYNJ1 |
c.3925C>A |
p.Pro1309Thr |
Missense |
31/32 |
- |
11-85742601-G-A |
PICALM |
c.183C>T |
p.Asp61Asp |
Synonymous |
2/20 |
- |
X-19553553-T-C |
SH3KBP1 |
c.*982A>G |
- |
3-UTRSNV |
18/18 |
- |
21-34004061-A-C |
SYNJ1 |
c.4083T>G |
p.Ile1361Met |
Missense |
32/32 |
- |
X-19560254-C-A |
SH3KBP1 |
c.1681G>T |
p.Gly561Cys |
Missense |
16/18 |
- |
X-19553611-G-C |
SH3KBP1 |
c.*924C>G |
- |
3-UTRSNV |
18/18 |
- |
21-34018898-A-G |
SYNJ1 |
c.3169T>C |
p.Tyr1057His |
Missense |
24/32 |
- |
21-34018898-A-C |
SYNJ1 |
c.3169T>G |
p.Tyr1057Asp |
Missense |
24/32 |
- |