PMID: 31592138

Computational analysis of functional SNPs in Alzheimer's disease-associated endocytosis genes.

PeerJ
HJ Tey, CH Ng
2019

1826 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
21-34059320-C-G SYNJ1 c.1033G>C p.Glu345Gln Missense 8/32 -
21-34022534-A-G SYNJ1 c.3114T>C p.Leu1038Leu Synonymous 23/32 -
11-85737379-T-C PICALM c.304A>G p.Thr102Ala Missense 3/20 -
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
21-34037355-A-G SYNJ1 c.2289T>C p.Tyr763Tyr Synonymous 18/32 -
21-34030155-C-T SYNJ1 c.2449G>A p.Val817Ile Missense 19/32 -
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 -
11-85687703-G-C PICALM c.1802C>G p.Pro601Arg Missense 18/20 -
21-34037356-T-C SYNJ1 c.2288A>G p.Tyr763Cys Missense 18/32 -
11-85687673-T-C PICALM c.1832A>G p.Tyr611Cys Missense 18/20 -
21-34056366-C-T SYNJ1 c.1299G>A p.Gln433Gln Synonymous 10/32 -
21-34030090-G-A SYNJ1 c.2514C>T p.Cys838Cys Synonymous 19/32 -
X-19553160-C-T SH3KBP1 c.*1375G>A - 3-UTRSNV 18/18 -
11-85692807-C-T PICALM c.1660G>A p.Gly554Arg Missense 16/20 -
21-34018726-G-A SYNJ1 c.3341C>T p.Thr1114Ile Missense 24/32 -
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 -
21-34045787-G-A SYNJ1 c.1706C>T p.Pro569Leu Missense 14/32 -
21-34015758-G-A SYNJ1 c.3557C>T p.Ala1186Val Missense 27/32 -
X-19764562-G-A SH3KBP1 c.163-3C>T - IntronicSNV - 2/17
21-34011314-C-A SYNJ1 c.3936G>T p.Gln1312His Missense 31/32 -
21-34099211-C-G SYNJ1 c.113G>C p.Arg38Thr Missense 2/32 -
21-34003497-T-C SYNJ1 c.4647A>G p.Ser1549Ser Synonymous 32/32 -
X-19555847-C-G SH3KBP1 c.1944G>C p.Arg648Arg Synonymous 17/18 -
X-19764515-A-G SH3KBP1 c.207T>C p.Ala69Ala Synonymous 3/18 -
21-34014213-G-C SYNJ1 c.3698C>G p.Ala1233Gly Missense 29/32 -
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 -
11-85692255-G-C PICALM c.1696C>G p.Gln566Glu Missense 17/20 -
X-19564121-C-A SH3KBP1 c.1542G>T p.Glu514Asp Missense 15/18 -
21-34011286-G-C SYNJ1 c.3964C>G p.Pro1322Ala Missense 31/32 -
X-19552814-G-T SH3KBP1 c.*1721C>A - 3-UTRSNV 18/18 -
21-34001776-G-C SYNJ1 c.*1529C>G - 3-UTRSNV 32/32 -
11-85711830-G-A PICALM c.1018-8C>T - IntronicSNV - 10/19
21-34003289-T-C SYNJ1 c.*16A>G - 3-UTRSNV 32/32 -
X-19560085-C-T SH3KBP1 c.1850G>A p.Arg617His Missense 16/18 -
21-34038439-A-C SYNJ1 c.2076T>G p.Val692Val Synonymous 17/32 -
21-34029200-G-A SYNJ1 c.2709C>T p.Ala903Ala Synonymous 21/32 -
21-34004058-G-A SYNJ1 c.4086C>T p.Asp1362Asp Synonymous 32/32 -
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 -
X-19554018-A-G SH3KBP1 c.*517T>C - 3-UTRSNV 18/18 -
11-85779766-G-A PICALM c.57C>T p.Gly19Gly Synonymous 1/20 -
11-85779766-G-C PICALM c.57C>G p.Gly19Gly Synonymous 1/20 -
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 -
14-73653604-T-C PSEN1 c.524T>C p.Phe175Ser Missense 6/12 -
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 -
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 -
X-19553318-C-T SH3KBP1 c.*1217G>A - 3-UTRSNV 18/18 -
21-34029029-C-G SYNJ1 c.2880G>C p.Gln960His Missense 21/32 -
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 -
11-85701332-T-C PICALM c.1369A>G p.Thr457Ala Missense 13/20 -
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 -
21-34045822-C-G SYNJ1 c.1671G>C p.Lys557Asn Missense 14/32 -
21-34014282-A-AA SYNJ1 c.3635-5_3635-5dup - IntronicInsertion - 28/31
X-19560202-A-C SH3KBP1 c.1733T>G p.Leu578Trp Missense 16/18 -
X-19552538-C-T SH3KBP1 c.*1997G>A - 3-UTRSNV 18/18 -
21-34014408-T-C SYNJ1 c.3631A>G p.Ile1211Val Missense 28/32 -
21-34011373-G-A SYNJ1 c.3877C>T p.Pro1293Ser Missense 31/32 -
21-34072293-C-A SYNJ1 c.451G>T p.Asp151Tyr Missense 4/32 -
21-34011412-G-A SYNJ1 c.3838C>T p.Leu1280Leu Synonymous 31/32 -
21-34072293-C-T SYNJ1 c.451G>A p.Asp151Asn Missense 4/32 -
21-34011989-G-A SYNJ1 c.3806C>T p.Thr1269Met Missense 30/32 -
14-73664760-C-T PSEN1 c.791C>T p.Pro264Leu Missense 8/12 -
21-34002226-G-T SYNJ1 c.*1079C>A - 3-UTRSNV 32/32 -
11-85742641-C-T PICALM c.143G>A p.Cys48Tyr Missense 2/20 -
14-73653589-C-T PSEN1 c.509C>T p.Ser170Phe Missense 6/12 -
11-85742648-T-C PICALM c.136A>G p.Ile46Val Missense 2/20 -
X-19552278-C-G SH3KBP1 c.*2257G>C - 3-UTRSNV 18/18 -
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 -
21-34003412-G-A SYNJ1 c.4732C>T p.Pro1578Ser Missense 32/32 -
21-34002386-T-C SYNJ1 c.*919A>G - 3-UTRSNV 32/32 -
X-19854363-G-A SH3KBP1 c.42C>T p.His14His Synonymous 2/18 -
21-34011368-C-T SYNJ1 c.3882G>A p.Pro1294Pro Synonymous 31/32 -
X-19560059-T-A SH3KBP1 c.1876A>T p.Met626Leu Missense 16/18 -
21-34003356-G-A SYNJ1 c.4788C>T p.Phe1596Phe Synonymous 32/32 -
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 -
21-34003850-G-T SYNJ1 c.4294C>A p.Pro1432Thr Missense 32/32 -
X-19560226-G-A SH3KBP1 c.1709C>T p.Ala570Val Missense 16/18 -
21-34053864-T-C SYNJ1 c.1412A>G p.Asn471Ser Missense 11/32 -
21-34002041-T-C SYNJ1 c.*1264A>G - 3-UTRSNV 32/32 -
21-34014273-C-T SYNJ1 c.3638G>A p.Arg1213His Missense 29/32 -
21-34099166-T-C SYNJ1 c.158A>G p.Asp53Gly Missense 2/32 -
21-34022489-C-T SYNJ1 c.3154+5G>A - IntronicSNV - 23/31
21-34018723-G-C SYNJ1 c.3344C>G p.Pro1115Arg Missense 24/32 -
21-34037273-C-A SYNJ1 c.2371G>T p.Asp791Tyr Missense 18/32 -
21-34003907-G-A SYNJ1 c.4237C>T p.Pro1413Ser Missense 32/32 -
X-19560086-G-A SH3KBP1 c.1849C>T p.Arg617Cys Missense 16/18 -
21-34053864-T-A SYNJ1 c.1412A>T p.Asn471Ile Missense 11/32 -
11-85733453-A-C PICALM c.409T>G p.Ser137Ala Missense 4/20 -
X-19553314-C-A SH3KBP1 c.*1221G>T - 3-UTRSNV 18/18 -
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 -
11-85687722-G-A PICALM c.1783C>T p.Pro595Ser Missense 18/20 -
X-19587293-T-C SH3KBP1 c.1312A>G p.Lys438Glu Missense 13/18 -
21-34018763-A-G SYNJ1 c.3304T>C p.Ser1102Pro Missense 24/32 -
11-85694993-G-T PICALM c.1432C>A p.Gln478Lys Missense 14/20 -
21-34037317-A-G SYNJ1 c.2327T>C p.Leu776Pro Missense 18/32 -
21-34011347-C-T SYNJ1 c.3903G>A p.Glu1301Glu Synonymous 31/32 -
21-34012044-C-T SYNJ1 c.3751G>A p.Ala1251Thr Missense 30/32 -
21-34003377-G-C SYNJ1 c.4767C>G p.Thr1589Thr Synonymous 32/32 -
21-34099098-C-A SYNJ1 c.226G>T p.Ala76Ser Missense 2/32 -
X-19564066-T-G SH3KBP1 c.1597A>C p.Thr533Pro Missense 15/18 -
21-34029153-T-C SYNJ1 c.2756A>G p.Asn919Ser Missense 21/32 -
21-34066578-C-T SYNJ1 c.866G>A p.Arg289Gln Missense 6/32 -
21-34056437-C-A SYNJ1 c.1236-8G>T - IntronicSNV - 9/31
21-34001430-T-C SYNJ1 c.*1875A>G - 3-UTRSNV 32/32 -
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 -
21-34003341-A-AA SYNJ1 c.4803_4803dup p.Lys1602*fs*1 Nonsense 32/32 -
21-34001474-C-T SYNJ1 c.*1831G>A - 3-UTRSNV 32/32 -
X-19554530-A-G SH3KBP1 c.*5T>C - 3-UTRSNV 18/18 -
21-34012032-C-T SYNJ1 c.3763G>A p.Ala1255Thr Missense 30/32 -
11-85723420-G-T PICALM c.562C>A p.Leu188Ile Missense 6/20 -
21-34003593-C-T SYNJ1 c.4551G>A p.Pro1517Pro Synonymous 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 -
21-34011213-C-T SYNJ1 c.4032+5G>A - IntronicSNV - 31/31
21-34011401-C-T SYNJ1 c.3849G>A p.Gln1283Gln Synonymous 31/32 -
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 -
21-34017994-G-A SYNJ1 c.3470C>T p.Thr1157Ile Missense 25/32 -
21-34029217-A-T SYNJ1 c.2697-5T>A - IntronicSNV - 20/31
X-19564171-G-A SH3KBP1 c.1495-3C>T - IntronicSNV - 14/17
11-85714491-G-A PICALM c.811C>T p.Pro271Ser Missense 9/20 -
21-34038887-C-A SYNJ1 c.1929-4G>T - IntronicSNV - 15/31
21-34004074-G-A SYNJ1 c.4070C>T p.Ser1357Leu Missense 32/32 -
21-34018828-G-C SYNJ1 c.3239C>G p.Ser1080Cys Missense 24/32 -
21-34099201-C-T SYNJ1 c.123G>A p.Ala41Ala Synonymous 2/32 -
21-34045773-C-T SYNJ1 c.1720G>A p.Val574Ile Missense 14/32 -
21-34003457-T-C SYNJ1 c.4687A>G p.Lys1563Glu Missense 32/32 -
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 -
21-34100283-T-C SYNJ1 c.69A>G p.Arg23Arg Synonymous 1/32 -
11-85722167-T-A PICALM c.671A>T p.Asp224Val Missense 7/20 -
11-85685850-T-C PICALM c.1845A>G p.Pro615Pro Synonymous 19/20 -
21-34003654-A-G SYNJ1 c.4490T>C p.Leu1497Pro Missense 32/32 -
X-19568126-G-A SH3KBP1 c.1460C>T p.Thr487Ile Missense 14/18 -
11-85779792-T-C PICALM c.31A>G p.Thr11Ala Missense 1/20 -
21-34029372-C-A SYNJ1 c.2637G>T p.Thr879Thr Synonymous 20/32 -
21-34018853-A-G SYNJ1 c.3214T>C p.Ser1072Pro Missense 24/32 -
21-34022555-T-C SYNJ1 c.3093A>G p.Ser1031Ser Synonymous 23/32 -
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 -
11-85711782-G-T PICALM c.1058C>A p.Ser353Tyr Missense 11/20 -
11-85722164-A-G PICALM c.674T>C p.Met225Thr Missense 7/20 -
21-34060630-T-G SYNJ1 c.954A>C p.Ala318Ala Synonymous 7/32 -
14-73637521-G-A PSEN1 c.104G>A p.Arg35Gln Missense 4/12 -
X-19606785-G-T SH3KBP1 c.1274C>A p.Pro425Gln Missense 12/18 -
21-34059306-C-T SYNJ1 c.1047G>A p.Met349Ile Missense 8/32 -
21-34012041-G-C SYNJ1 c.3754C>G p.Arg1252Gly Missense 30/32 -
21-34012041-G-A SYNJ1 c.3754C>T p.Arg1252Trp Missense 30/32 -
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-A PICALM c.1654G>T p.Gly552Cys Missense 16/20 -
11-85692813-C-G PICALM c.1654G>C p.Gly552Arg Missense 16/20 -
14-73683845-C-G PSEN1 c.1141C>G p.Leu381Val Missense 11/12 -
X-19553483-G-A SH3KBP1 c.*1052C>T - 3-UTRSNV 18/18 -
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 -
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 -
11-85687732-T-C PICALM c.1780-7A>G - IntronicSNV - 17/19
14-73640363-T-C PSEN1 c.428T>C p.Ile143Thr Missense 5/12 -
11-85723440-G-A PICALM c.547-5C>T - IntronicSNV - 5/19
21-34060658-C-A SYNJ1 c.926G>T p.Arg309Leu Missense 7/32 -
11-85670065-G-A PICALM c.*24C>T - 3-UTRSNV 20/20 -
11-85733423-T-C PICALM c.439A>G p.Lys147Glu Missense 4/20 -
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
21-34002437-T-C SYNJ1 c.*868A>G - 3-UTRSNV 32/32 -
21-34037314-G-T SYNJ1 c.2330C>A p.Pro777His Missense 18/32 -
21-34072177-T-A SYNJ1 c.567A>T p.Gln189His Missense 4/32 -
11-85692264-T-C PICALM c.1687A>G p.Asn563Asp Missense 17/20 -
X-19560228-C-T SH3KBP1 c.1707G>A p.Ala569Ala Synonymous 16/18 -
21-34030110-A-G SYNJ1 c.2494T>C p.Tyr832His Missense 19/32 -
X-19606862-C-A SH3KBP1 c.1197G>T p.Pro399Pro Synonymous 12/18 -
X-19553470-C-T SH3KBP1 c.*1065G>A - 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 -
21-34029058-C-T SYNJ1 c.2851G>A p.Asp951Asn Missense 21/32 -
21-34050988-C-T SYNJ1 c.1594G>A p.Ala532Thr Missense 12/32 -
21-34001274-C-A SYNJ1 c.*2031G>T - 3-UTRSNV 32/32 -
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 -
X-19552523-G-A SH3KBP1 c.*2012C>T - 3-UTRSNV 18/18 -
21-34018007-C-T SYNJ1 c.3457G>A p.Val1153Ile Missense 25/32 -
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-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 -
21-34022647-G-A SYNJ1 c.3001C>T p.Arg1001Trp Missense 23/32 -
21-34072291-A-G SYNJ1 c.453T>C p.Asp151Asp Synonymous 4/32 -
21-34074326-T-C SYNJ1 c.273A>G p.Thr91Thr Synonymous 3/32 -
X-19568149-C-T SH3KBP1 c.1437G>A p.Pro479Pro Synonymous 14/18 -
21-34045817-A-G SYNJ1 c.1676T>C p.Met559Thr Missense 14/32 -
11-85779699-G-C PICALM c.124C>G p.Leu42Val Missense 1/20 -
21-34011260-C-G SYNJ1 c.3990G>C p.Arg1330Ser Missense 31/32 -
11-85711828-A-G PICALM c.1018-6T>C - IntronicSNV - 10/19
21-34025636-T-C SYNJ1 c.2953A>G p.Ser985Gly Missense 22/32 -
21-34002138-T-G SYNJ1 c.*1167A>C - 3-UTRSNV 32/32 -
X-19553468-A-G SH3KBP1 c.*1067T>C - 3-UTRSNV 18/18 -
11-85711771-C-G PICALM c.1069G>C p.Ala357Pro Missense 11/20 -
21-34018004-C-T SYNJ1 c.3460G>A p.Ala1154Thr Missense 25/32 -
21-34003808-T-C SYNJ1 c.4336A>G p.Ser1446Gly Missense 32/32 -
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 -
11-85711809-T-C PICALM c.1031A>G p.Lys344Arg Missense 11/20 -
11-85692816-G-T PICALM c.1651C>A p.Leu551Ile Missense 16/20 -
X-19553762-G-C SH3KBP1 c.*773C>G - 3-UTRSNV 18/18 -
11-85707975-A-T PICALM c.1155-3T>A - IntronicSNV - 11/19
X-19552514-G-A SH3KBP1 c.*2021C>T - 3-UTRSNV 18/18 -
21-34067543-C-T SYNJ1 c.646G>A p.Asp216Asn Missense 5/32 -
21-34053931-C-G SYNJ1 c.1345G>C p.Gly449Arg Missense 11/32 -
21-34072375-A-C SYNJ1 c.369T>G p.Cys123Trp Missense 4/32 -
21-34003967-T-G SYNJ1 c.4177A>C p.Arg1393Arg Synonymous 32/32 -
21-34072173-G-C SYNJ1 c.571C>G p.Gln191Glu Missense 4/32 -
11-85692259-C-A PICALM c.1692G>T p.Trp564Cys Missense 17/20 -
X-19554411-T-C SH3KBP1 c.*124A>G - 3-UTRSNV 18/18 -
X-19560054-C-T SH3KBP1 c.1881G>A p.Lys627Lys Synonymous 16/18 -
21-34002700-T-C SYNJ1 c.*605A>G - 3-UTRSNV 32/32 -
21-34037262-T-C SYNJ1 c.2382A>G p.Ile794Met Missense 18/32 -
11-85692966-T-C PICALM c.1597A>G p.Ser533Gly Missense 15/20 -
11-85726011-T-A PICALM c.453-5A>T - IntronicSNV - 4/19
21-34018917-G-A SYNJ1 c.3155-5C>T - IntronicSNV - 23/31
21-34011225-T-C SYNJ1 c.4025A>G p.Gln1342Arg Missense 31/32 -
21-34002358-T-G SYNJ1 c.*947A>C - 3-UTRSNV 32/32 -
11-85707976-G-A PICALM c.1155-4C>T - IntronicSNV - 11/19
21-34053865-T-C SYNJ1 c.1411A>G p.Asn471Asp Missense 11/32 -
21-34099196-C-T SYNJ1 c.128G>A p.Ser43Asn Missense 2/32 -
21-34072408-A-T SYNJ1 c.336T>A p.Thr112Thr Synonymous 4/32 -
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 -
21-34042592-G-A SYNJ1 c.1928+6C>T - IntronicSNV - 15/31
21-34067413-C-A SYNJ1 c.776G>T p.Gly259Val Missense 5/32 -
14-73683855-G-C PSEN1 c.1151G>C p.Gly384Ala Missense 11/12 -
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 -
21-34067413-C-T SYNJ1 c.776G>A p.Gly259Glu Missense 5/32 -
X-19854267-A-C SH3KBP1 c.138T>G p.Gly46Gly Synonymous 2/18 -
21-34038757-A-G SYNJ1 c.2055T>C p.His685His Synonymous 16/32 -
11-85725948-T-C PICALM c.511A>G p.Ile171Val Missense 5/20 -
21-34004061-A-C SYNJ1 c.4083T>G p.Ile1361Met Missense 32/32 -
21-34038775-A-G SYNJ1 c.2037T>C p.Val679Val Synonymous 16/32 -
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 -
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 -
11-85694986-T-C PICALM c.1439A>G p.His480Arg Missense 14/20 -
11-85711817-C-T PICALM c.1023G>A p.Gln341Gln Synonymous 11/20 -
21-34060611-C-T SYNJ1 c.968+5G>A - IntronicSNV - 7/31
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 -
X-19725088-G-A SH3KBP1 c.301C>T p.Arg101Cys Missense 4/18 -
21-34037370-T-C SYNJ1 c.2274A>G p.Leu758Leu Synonymous 18/32 -
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 -
21-34011985-C-T SYNJ1 c.3810G>A p.Ser1270Ser Synonymous 30/32 -
21-34060624-A-G SYNJ1 c.960T>C p.Ala320Ala Synonymous 7/32 -
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 -
21-34072187-C-T SYNJ1 c.557G>A p.Arg186His Missense 4/32 -
11-85779699-G-A PICALM c.124C>T p.Leu42Leu Synonymous 1/20 -
11-85685824-G-A PICALM c.1871C>T p.Thr624Met Missense 19/20 -
X-19554509-A-T SH3KBP1 c.*26T>A - 3-UTRSNV 18/18 -
X-19764458-C-T SH3KBP1 c.264G>A p.Thr88Thr Synonymous 3/18 -
11-85692912-T-C PICALM c.1648+3A>G - IntronicSNV - 15/19
21-34022540-G-T SYNJ1 c.3108C>A p.Thr1036Thr Synonymous 23/32 -
21-34003648-C-T SYNJ1 c.4496G>A p.Gly1499Asp Missense 32/32 -
X-19725073-C-T SH3KBP1 c.316G>A p.Ala106Thr Missense 4/18 -
21-34003303-C-T SYNJ1 c.*2G>A - 3-UTRSNV 32/32 -
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 -
21-34072206-A-G SYNJ1 c.538T>C p.Leu180Leu Synonymous 4/32 -
21-34012042-C-T SYNJ1 c.3753G>A p.Ala1251Ala Synonymous 30/32 -
21-34045823-T-C SYNJ1 c.1670A>G p.Lys557Arg Missense 14/32 -
11-85701363-A-G PICALM c.1338T>C p.Asp446Asp Synonymous 13/20 -
11-85711727-T-A PICALM c.1113A>T p.Ala371Ala Synonymous 11/20 -
11-85733516-T-C PICALM c.350-4A>G - IntronicSNV - 3/19
11-85733516-T-A PICALM c.350-4A>T - IntronicSNV - 3/19
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 -
21-34003851-A-G SYNJ1 c.4293T>C p.Ser1431Ser Synonymous 32/32 -
11-85779723-T-C PICALM c.100A>G p.Ile34Val Missense 1/20 -
21-34018014-G-C SYNJ1 c.3450C>G p.Pro1150Pro Synonymous 25/32 -
X-19650075-G-A SH3KBP1 c.804C>T p.Ser268Ser Synonymous 8/18 -
X-19552335-A-G SH3KBP1 c.*2200T>C - 3-UTRSNV 18/18 -
X-19552335-A-C SH3KBP1 c.*2200T>G - 3-UTRSNV 18/18 -
21-34050957-C-T SYNJ1 c.1625G>A p.Arg542His Missense 12/32 -
21-34029423-A-C SYNJ1 c.2586T>G p.Asp862Glu Missense 20/32 -
21-34038360-T-C SYNJ1 c.2155A>G p.Thr719Ala Missense 17/32 -
X-19553433-G-A SH3KBP1 c.*1102C>T - 3-UTRSNV 18/18 -
21-34003517-G-A SYNJ1 c.4627C>T p.Leu1543Leu Synonymous 32/32 -
21-34011386-C-A SYNJ1 c.3864G>T p.Pro1288Pro Synonymous 31/32 -
11-85707980-G-A PICALM c.1155-8C>T - IntronicSNV - 11/19
11-85692279-T-C PICALM c.1680-8A>G - IntronicSNV - 16/19
11-85692279-T-G PICALM c.1680-8A>C - IntronicSNV - 16/19
X-19817765-T-C SH3KBP1 c.162+36478A>G - IntronicSNV - 2/17
21-34025611-A-C SYNJ1 c.2978T>G p.Leu993Arg Missense 22/32 -
21-34004006-A-G SYNJ1 c.4138T>C p.Ser1380Pro Missense 32/32 -
21-34030136-T-C SYNJ1 c.2468A>G p.Tyr823Cys Missense 19/32 -
21-34003881-C-A SYNJ1 c.4263G>T p.Arg1421Arg Synonymous 32/32 -
21-34025657-A-G SYNJ1 c.2932T>C p.Trp978Arg Missense 22/32 -
21-34003255-T-G SYNJ1 c.*50A>C - 3-UTRSNV 32/32 -
21-34003517-G-T SYNJ1 c.4627C>A p.Leu1543Met Missense 32/32 -
21-34053801-T-C SYNJ1 c.1470+5A>G - IntronicSNV - 11/31
21-34011253-G-A SYNJ1 c.3997C>T p.His1333Tyr Missense 31/32 -
11-85707872-C-T PICALM c.1255G>A p.Gly419Arg Missense 12/20 -
21-34072296-A-C SYNJ1 c.448T>G p.Ser150Ala Missense 4/32 -
21-34050976-A-C SYNJ1 c.1606T>G p.Leu536Val Missense 12/32 -
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 -
21-34011386-C-T SYNJ1 c.3864G>A p.Pro1288Pro Synonymous 31/32 -
21-34003782-G-A SYNJ1 c.4362C>T p.Asn1454Asn Synonymous 32/32 -
X-19554349-C-G SH3KBP1 c.*186G>C - 3-UTRSNV 18/18 -
X-19554349-C-A SH3KBP1 c.*186G>T - 3-UTRSNV 18/18 -
21-34003655-G-A SYNJ1 c.4489C>T p.Leu1497Phe Missense 32/32 -
11-85670060-T-C PICALM c.*29A>G - 3-UTRSNV 20/20 -
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 -
21-34003619-G-A SYNJ1 c.4525C>T p.Gln1509* Nonsense 32/32 -
11-85711815-C-T PICALM c.1025G>A p.Arg342His Missense 11/20 -
21-34003901-T-C SYNJ1 c.4243A>G p.Met1415Val Missense 32/32 -
21-34029053-G-A SYNJ1 c.2856C>T p.Ala952Ala Synonymous 21/32 -
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 -
21-34002983-G-A SYNJ1 c.*322C>T - 3-UTRSNV 32/32 -
21-34099169-A-G SYNJ1 c.155T>C p.Leu52Ser Missense 2/32 -
21-34003411-G-C SYNJ1 c.4733C>G p.Pro1578Arg Missense 32/32 -
X-19560264-T-C SH3KBP1 c.1671A>G p.Ala557Ala Synonymous 16/18 -
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 -
11-85779829-A-T PICALM c.1-7T>A - 5-UTRSNV 1/20 -
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 -
11-85685809-A-G PICALM c.1886T>C p.Ile629Thr Missense 19/20 -
21-34014423-T-C SYNJ1 c.3616A>G p.Thr1206Ala Missense 28/32 -
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-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 -
11-85711720-T-C PICALM c.1120A>G p.Ile374Val Missense 11/20 -
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 -
21-34001639-G-A SYNJ1 c.*1666C>T - 3-UTRSNV 32/32 -
X-19552326-G-A SH3KBP1 c.*2209C>T - 3-UTRSNV 18/18 -
X-19701933-G-A SH3KBP1 c.726+8C>T - IntronicSNV - 6/17
X-19560130-G-A SH3KBP1 c.1805C>T p.Ala602Val Missense 16/18 -
11-85742556-G-C PICALM c.228C>G p.Phe76Leu Missense 2/20 -
X-19552331-G-A SH3KBP1 c.*2204C>T - 3-UTRSNV 18/18 -
X-19552331-G-C SH3KBP1 c.*2204C>G - 3-UTRSNV 18/18 -
21-34067573-G-A SYNJ1 c.616C>T p.His206Tyr Missense 5/32 -
X-19568176-T-C SH3KBP1 c.1410A>G p.Val470Val Synonymous 14/18 -
X-19702010-G-A SH3KBP1 c.657C>T p.Phe219Phe Synonymous 6/18 -
21-34100320-C-T SYNJ1 c.32G>A p.Ser11Asn Missense 1/32 -
11-85669984-G-C PICALM c.*105C>G - 3-UTRSNV 20/20 -
11-85692181-A-T PICALM c.1770T>A p.Ala590Ala Synonymous 17/20 -
21-34003800-C-T SYNJ1 c.4344G>A p.Arg1448Arg Synonymous 32/32 -
21-34100302-C-T SYNJ1 c.50G>A p.Cys17Tyr Missense 1/32 -
11-85692181-A-C PICALM c.1770T>G p.Ala590Ala Synonymous 17/20 -
14-73637671-T-C PSEN1 c.254T>C p.Leu85Pro Missense 4/12 -
X-19713773-C-T SH3KBP1 c.477G>A p.Ser159Ser Synonymous 5/18 -
21-34029183-A-G SYNJ1 c.2726T>C p.Ile909Thr Missense 21/32 -
X-19560247-G-A SH3KBP1 c.1688C>T p.Pro563Leu Missense 16/18 -
21-34003995-C-T SYNJ1 c.4149G>A p.Thr1383Thr Synonymous 32/32 -
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 -
21-34001768-A-G SYNJ1 c.*1537T>C - 3-UTRSNV 32/32 -
21-34014207-G-T SYNJ1 c.3704C>A p.Pro1235Gln 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 -
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 -
11-85737412-G-A PICALM c.274-3C>T - IntronicSNV - 2/19
21-34003383-G-A SYNJ1 c.4761C>T p.Pro1587Pro Synonymous 32/32 -
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 -
21-34003511-T-G SYNJ1 c.4633A>C p.Asn1545His Missense 32/32 -
21-34003511-T-C SYNJ1 c.4633A>G p.Asn1545Asp Missense 32/32 -
X-19560062-T-A SH3KBP1 c.1873A>T p.Thr625Ser Missense 16/18 -
11-85711749-G-A PICALM c.1091C>T p.Ser364Leu Missense 11/20 -
11-85694901-T-C PICALM c.1516+8A>G - IntronicSNV - 14/19
21-34029048-A-C SYNJ1 c.2861T>G p.Ile954Ser Missense 21/32 -
21-34003563-C-T SYNJ1 c.4581G>A p.Glu1527Glu Synonymous 32/32 -
21-34028991-T-C SYNJ1 c.2912+6A>G - IntronicSNV - 21/31
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 -
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 -
21-34022576-T-C SYNJ1 c.3072A>G p.Lys1024Lys Synonymous 23/32 -
21-34003532-C-A SYNJ1 c.4612G>T p.Ala1538Ser Missense 32/32 -
X-19649977-T-C SH3KBP1 c.897+5A>G - IntronicSNV - 8/17
21-34014220-T-C SYNJ1 c.3691A>G p.Ser1231Gly Missense 29/32 -
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 -
11-85737414-A-G PICALM c.274-5T>C - IntronicSNV - 2/19
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 -
21-34067480-G-T SYNJ1 c.709C>A p.Gln237Lys Missense 5/32 -
21-34003532-C-G SYNJ1 c.4612G>C p.Ala1538Pro Missense 32/32 -
21-34014244-C-G SYNJ1 c.3667G>C p.Ala1223Pro Missense 29/32 -
X-19553580-C-T SH3KBP1 c.*955G>A - 3-UTRSNV 18/18 -
11-85712149-G-A PICALM c.946C>T p.Leu316Leu Synonymous 10/20 -
21-34072292-T-A SYNJ1 c.452A>T p.Asp151Val Missense 4/32 -
X-19713740-T-G SH3KBP1 c.510A>C p.Leu170Leu Synonymous 5/18 -
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 -
11-85692174-T-C PICALM c.1777A>G p.Met593Val Missense 17/20 -
X-19713740-T-C SH3KBP1 c.510A>G 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 -
X-19854318-G-A SH3KBP1 c.87C>T p.Ile29Ile Synonymous 2/18 -
21-34011301-G-T SYNJ1 c.3949C>A p.Pro1317Thr Missense 31/32 -
21-34003602-A-G SYNJ1 c.4542T>C p.Ile1514Ile Synonymous 32/32 -
X-19560285-C-T SH3KBP1 c.1650G>A p.Pro550Pro Synonymous 16/18 -
21-34030135-A-G SYNJ1 c.2469T>C p.Tyr823Tyr Synonymous 19/32 -
21-34001316-T-C SYNJ1 c.*1989A>G - 3-UTRSNV 32/32 -
11-85711703-G-T PICALM c.1137C>A p.Thr379Thr Synonymous 11/20 -
21-34028990-A-G SYNJ1 c.2912+7T>C - IntronicSNV - 21/31
X-19560123-G-A SH3KBP1 c.1812C>T p.Ser604Ser Synonymous 16/18 -
21-34002378-G-A SYNJ1 c.*927C>T - 3-UTRSNV 32/32 -
21-34059374-T-G SYNJ1 c.979A>C p.Thr327Pro Missense 8/32 -
X-19560296-C-A SH3KBP1 c.1639G>T p.Ala547Ser Missense 16/18 -
11-85694941-T-C PICALM c.1484A>G p.Asn495Ser Missense 14/20 -
11-85694923-A-G PICALM c.1502T>C p.Ile501Thr Missense 14/20 -
11-85714470-A-G PICALM c.832T>C p.Leu278Leu Synonymous 9/20 -
21-34015765-T-C SYNJ1 c.3550A>G p.Ile1184Val Missense 27/32 -
X-19724993-G-A SH3KBP1 c.390+6C>T - IntronicSNV - 4/17
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 -
11-85707905-T-C PICALM c.1222A>G p.Met408Val Missense 12/20 -
21-34018062-C-A SYNJ1 c.3402G>T p.Pro1134Pro Synonymous 25/32 -
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 -
21-34003331-G-A SYNJ1 c.4813C>T p.Pro1605Ser Missense 32/32 -
21-34029349-T-G SYNJ1 c.2660A>C p.His887Pro Missense 20/32 -
21-34018740-T-C SYNJ1 c.3327A>G p.Arg1109Arg Synonymous 24/32 -
11-85779750-T-C PICALM c.73A>G p.Thr25Ala Missense 1/20 -
21-34029131-T-G SYNJ1 c.2778A>C p.Ala926Ala Synonymous 21/32 -
X-19560229-G-A SH3KBP1 c.1706C>T p.Ala569Val Missense 16/18 -
11-85692187-C-G PICALM c.1764G>C p.Trp588Cys Missense 17/20 -
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 -
21-34037271-A-G SYNJ1 c.2373T>C p.Asp791Asp Synonymous 18/32 -
11-85723446-A-AA PICALM c.547-7_547-7dup - IntronicInsertion - 5/19
11-85707960-C-A PICALM c.1167G>T p.Leu389Leu Synonymous 12/20 -
X-19702076-G-A SH3KBP1 c.591C>T p.Asn197Asn Synonymous 6/18 -
21-34003973-G-T SYNJ1 c.4171C>A p.Pro1391Thr Missense 32/32 -
21-34003973-G-A SYNJ1 c.4171C>T p.Pro1391Ser Missense 32/32 -
11-85670024-G-A PICALM c.*65C>T - 3-UTRSNV 20/20 -
X-19553583-G-A SH3KBP1 c.*952C>T - 3-UTRSNV 18/18 -
X-19701970-C-T SH3KBP1 c.697G>A p.Val233Ile Missense 6/18 -
21-34003725-C-T SYNJ1 c.4419G>A p.Glu1473Glu Synonymous 32/32 -
11-85707952-T-C PICALM c.1175A>G p.Asp392Gly Missense 12/20 -
21-34017295-G-C SYNJ1 c.3530C>G p.Thr1177Ser Missense 26/32 -
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 -
X-19587225-G-T SH3KBP1 c.1380C>A p.Asp460Glu Missense 13/18 -
21-34002359-C-G SYNJ1 c.*946G>C - 3-UTRSNV 32/32 -
X-19554038-C-A SH3KBP1 c.*497G>T - 3-UTRSNV 18/18 -
21-34037277-A-T SYNJ1 c.2367T>A p.Asn789Lys Missense 18/32 -
X-19626152-G-A SH3KBP1 c.909C>T p.Asp303Asp Synonymous 9/18 -
11-85722130-G-C PICALM c.708C>G p.Ile236Met Missense 7/20 -
21-34003719-A-G SYNJ1 c.4425T>C p.Val1475Val Synonymous 32/32 -
21-34099133-C-T SYNJ1 c.191G>A p.Arg64Lys Missense 2/32 -
X-19613092-G-A SH3KBP1 c.1032C>T p.Ser344Ser Synonymous 10/18 -
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
X-19854340-A-G SH3KBP1 c.65T>C p.Val22Ala Missense 2/18 -
21-34067516-C-T SYNJ1 c.673G>A p.Gly225Arg Missense 5/32 -
21-34058182-T-G SYNJ1 c.1111A>C p.Asn371His Missense 9/32 -
11-85737366-A-G PICALM c.317T>C p.Leu106Ser Missense 3/20 -
X-19552311-G-A SH3KBP1 c.*2224C>T - 3-UTRSNV 18/18 -
11-85692216-G-T PICALM c.1735C>A p.Gln579Lys Missense 17/20 -
21-34029373-G-A SYNJ1 c.2636C>T p.Thr879Met Missense 20/32 -
21-34072218-T-A SYNJ1 c.526A>T p.Ile176Phe Missense 4/32 -
11-85779757-T-C PICALM c.66A>G p.Val22Val Synonymous 1/20 -
11-85670101-T-C PICALM c.1947A>G p.Ile649Met Missense 20/20 -
11-85711764-G-A PICALM c.1076C>T p.Ser359Phe Missense 11/20 -
X-19650080-T-A SH3KBP1 c.803-4A>T - IntronicSNV - 7/17
21-34003322-C-A SYNJ1 c.4822G>T p.Asp1608Tyr Missense 32/32 -
21-34001713-T-C SYNJ1 c.*1592A>G - 3-UTRSNV 32/32 -
X-19552482-T-G SH3KBP1 c.*2053A>C - 3-UTRSNV 18/18 -
X-19613083-G-A SH3KBP1 c.1041C>T p.Val347Val Synonymous 10/18 -
21-34002523-C-G SYNJ1 c.*782G>C - 3-UTRSNV 32/32 -
21-34003540-G-C SYNJ1 c.4604C>G p.Ser1535* Nonsense 32/32 -
21-34011387-G-A SYNJ1 c.3863C>T p.Pro1288Leu Missense 31/32 -
11-85723406-T-C PICALM c.576A>G p.Val192Val Synonymous 6/20 -
11-85712088-T-C PICALM c.1007A>G p.Lys336Arg Missense 10/20 -
21-34059327-T-C SYNJ1 c.1026A>G p.Gly342Gly Synonymous 8/32 -
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-19553489-C-T SH3KBP1 c.*1046G>A - 3-UTRSNV 18/18 -
X-19554269-A-T SH3KBP1 c.*266T>A - 3-UTRSNV 18/18 -
21-34003513-C-T SYNJ1 c.4631G>A p.Gly1544Asp Missense 32/32 -
21-34022621-A-C SYNJ1 c.3027T>G p.Ser1009Arg Missense 23/32 -
21-34051007-A-G SYNJ1 c.1575T>C p.Asn525Asn Synonymous 12/32 -
21-34038865-G-C SYNJ1 c.1947C>G p.Leu649Leu Synonymous 16/32 -
11-85694957-C-T PICALM c.1468G>A p.Glu490Lys Missense 14/20 -
X-19764496-C-T SH3KBP1 c.226G>A p.Glu76Lys Missense 3/18 -
X-19560215-G-A SH3KBP1 c.1720C>T p.Leu574Leu Synonymous 16/18 -
X-19560215-G-T SH3KBP1 c.1720C>A p.Leu574Met Missense 16/18 -
11-85725983-A-C PICALM c.476T>G p.Met159Arg Missense 5/20 -
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 -
21-34072384-G-A SYNJ1 c.360C>T p.Val120Val Synonymous 4/32 -
11-85712172-G-C PICALM c.923C>G p.Ser308Cys Missense 10/20 -
21-34059380-A-G SYNJ1 c.973T>C p.Phe325Leu Missense 8/32 -
X-19724992-C-T SH3KBP1 c.390+7G>A - IntronicSNV - 4/17
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 -
21-34012074-C-A SYNJ1 c.3721G>T p.Ala1241Ser Missense 30/32 -
21-34067539-C-A SYNJ1 c.650G>T p.Trp217Leu Missense 5/32 -
X-19552693-A-G SH3KBP1 c.*1842T>C - 3-UTRSNV 18/18 -
11-85707862-T-C PICALM c.1258+7A>G - IntronicSNV - 12/19
X-19606802-C-T SH3KBP1 c.1257G>A p.Pro419Pro Synonymous 12/18 -
21-34067370-T-C SYNJ1 c.819A>G p.Glu273Glu Synonymous 5/32 -
11-85711732-T-C PICALM c.1108A>G p.Thr370Ala Missense 11/20 -
11-85712163-C-T PICALM c.932G>A p.Ser311Asn Missense 10/20 -
11-85711732-T-G PICALM c.1108A>C p.Thr370Pro Missense 11/20 -
11-85669942-G-T PICALM c.*147C>A - 3-UTRSNV 20/20 -
11-85701319-C-A PICALM c.1382G>T p.Arg461Met Missense 13/20 -
11-85692249-C-A PICALM c.1702G>T p.Gly568Cys Missense 17/20 -
21-34004094-G-A SYNJ1 c.4050C>T p.Ile1350Ile Synonymous 32/32 -
21-34004094-G-T SYNJ1 c.4050C>A p.Ile1350Ile Synonymous 32/32 -
21-34037365-G-A SYNJ1 c.2279C>T p.Ser760Phe Missense 18/32 -
11-85707979-A-T PICALM c.1155-7T>A - IntronicSNV - 11/19
11-85692812-C-G PICALM c.1655G>C p.Gly552Ala Missense 16/20 -
21-34100254-C-T SYNJ1 c.95+3G>A - IntronicSNV - 1/31
X-19553052-G-T SH3KBP1 c.*1483C>A - 3-UTRSNV 18/18 -
21-34100254-C-G SYNJ1 c.95+3G>C - IntronicSNV - 1/31
X-19560097-C-G SH3KBP1 c.1838G>C p.Arg613Thr Missense 16/18 -
X-19764478-A-G SH3KBP1 c.244T>C p.Ser82Pro Missense 3/18 -
11-85685772-A-C PICALM c.1923T>G p.Phe641Leu Missense 19/20 -
X-19725023-G-A SH3KBP1 c.366C>T p.Gly122Gly Synonymous 4/18 -
21-34045813-A-G SYNJ1 c.1680T>C p.Cys560Cys Synonymous 14/32 -
21-34011326-T-G SYNJ1 c.3924A>C p.Ala1308Ala Synonymous 31/32 -
21-34059352-T-C SYNJ1 c.1001A>G p.Lys334Arg Missense 8/32 -
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-19560083-C-T SH3KBP1 c.1852G>A p.Glu618Lys Missense 16/18 -
11-85718611-T-C PICALM c.781A>G p.Arg261Gly Missense 8/20 -
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-19610262-G-A SH3KBP1 c.1061C>T p.Thr354Ile Missense 11/18 -
21-34002220-G-C SYNJ1 c.*1085C>G - 3-UTRSNV 32/32 -
21-34003704-G-A SYNJ1 c.4440C>T p.Phe1480Phe Synonymous 32/32 -
21-34002233-G-A SYNJ1 c.*1072C>T - 3-UTRSNV 32/32 -
14-73653573-T-G PSEN1 c.493T>G p.Trp165Gly Missense 6/12 -
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 -
21-34038854-T-G SYNJ1 c.1958A>C p.Glu653Ala Missense 16/32 -
21-34018754-T-C SYNJ1 c.3313A>G p.Ile1105Val Missense 24/32 -
X-19764497-G-C SH3KBP1 c.225C>G p.His75Gln Missense 3/18 -
21-34001824-T-C SYNJ1 c.*1481A>G - 3-UTRSNV 32/32 -
11-85692907-C-T PICALM c.1648+8G>A - IntronicSNV - 15/19
21-34012092-A-T SYNJ1 c.3706-3T>A - IntronicSNV - 29/31
11-85692221-T-G PICALM c.1730A>C p.Asn577Thr Missense 17/20 -
21-34025593-C-T SYNJ1 c.2991+5G>A - IntronicSNV - 22/31
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 -
21-34002226-G-C SYNJ1 c.*1079C>G - 3-UTRSNV 32/32 -
11-85711692-G-A PICALM c.1148C>T p.Ser383Phe Missense 11/20 -
11-85779745-T-C PICALM c.78A>G p.Val26Val Synonymous 1/20 -
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 -
11-85707936-C-T PICALM c.1191G>A p.Gln397Gln Synonymous 12/20 -
11-85670094-T-A PICALM c.1954A>T p.Met652Leu Missense 20/20 -
21-34002213-T-C SYNJ1 c.*1092A>G - 3-UTRSNV 32/32 -
X-19702075-C-T SH3KBP1 c.592G>A p.Gly198Arg Missense 6/18 -
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 -
11-85711729-C-G PICALM c.1111G>C p.Ala371Pro Missense 11/20 -
21-34017296-T-G SYNJ1 c.3529A>C p.Thr1177Pro Missense 26/32 -
21-34045708-C-T SYNJ1 c.1785G>A p.Gln595Gln Synonymous 14/32 -
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-A SH3KBP1 c.1210C>T p.Arg404Trp Missense 12/18 -
X-19606849-G-T SH3KBP1 c.1210C>A p.Arg404Arg Synonymous 12/18 -
21-34025672-C-T SYNJ1 c.2917G>A p.Val973Ile Missense 22/32 -
21-34003502-T-G SYNJ1 c.4642A>C p.Ser1548Arg Missense 32/32 -
21-34072243-A-G SYNJ1 c.501T>C p.Phe167Phe Synonymous 4/32 -
11-85722134-T-A PICALM c.704A>T p.Asp235Val Missense 7/20 -
X-19560162-G-A SH3KBP1 c.1773C>T p.Phe591Phe Synonymous 16/18 -
21-34003575-G-A SYNJ1 c.4569C>T p.Phe1523Phe Synonymous 32/32 -
11-85733418-C-T PICALM c.444G>A p.Val148Val Synonymous 4/20 -
21-34003803-G-A SYNJ1 c.4341C>T p.Asp1447Asp Synonymous 32/32 -
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 -
21-34100307-G-C SYNJ1 c.45C>G p.Gly15Gly Synonymous 1/32 -
21-34100307-G-A SYNJ1 c.45C>T p.Gly15Gly Synonymous 1/32 -
11-85723398-G-A PICALM c.584C>T p.Ala195Val Missense 6/20 -
X-19564142-G-A SH3KBP1 c.1521C>T p.Phe507Phe Synonymous 15/18 -
21-34002069-A-G SYNJ1 c.*1236T>C - 3-UTRSNV 32/32 -
X-19560111-G-A SH3KBP1 c.1824C>T p.Ala608Ala Synonymous 16/18 -
11-85701430-G-A PICALM c.1271C>T p.Ala424Val Missense 13/20 -
21-34030022-C-T SYNJ1 c.2578+4G>A - IntronicSNV - 19/31
X-19905583-C-G SH3KBP1 c.1-155G>C - 5-UTRSNV 1/18 -
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 -
21-34022550-G-T SYNJ1 c.3098C>A p.Thr1033Lys Missense 23/32 -
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 -
21-34099174-G-C SYNJ1 c.150C>G p.His50Gln Missense 2/32 -
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 -
21-34045841-G-A SYNJ1 c.1652C>T p.Ala551Val Missense 14/32 -
21-34045697-T-C SYNJ1 c.1796A>G p.Asp599Gly Missense 14/32 -
21-34059281-T-C SYNJ1 c.1065+7A>G - IntronicSNV - 8/31
X-19564139-G-A SH3KBP1 c.1524C>T p.Asp508Asp Synonymous 15/18 -
11-85692251-G-A PICALM c.1700C>T p.Pro567Leu Missense 17/20 -
X-19560111-G-C SH3KBP1 c.1824C>G p.Ala608Ala Synonymous 16/18 -
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 -
21-34017321-T-C SYNJ1 c.3509-5A>G - IntronicSNV - 25/31
21-34017321-T-A SYNJ1 c.3509-5A>T - IntronicSNV - 25/31
21-34074320-G-C SYNJ1 c.279C>G p.Ser93Ser Synonymous 3/32 -
21-34001107-C-T SYNJ1 c.*2198G>A - 3-UTRSNV 32/32 -
21-34011353-C-A SYNJ1 c.3897G>T p.Leu1299Phe Missense 31/32 -
11-85723382-C-A PICALM c.600G>T p.Leu200Leu Synonymous 6/20 -
11-85712192-T-C PICALM c.903A>G p.Thr301Thr Synonymous 10/20 -
X-19663541-G-A SH3KBP1 c.779C>T p.Thr260Ile Missense 7/18 -
21-34074296-G-C SYNJ1 c.303C>G p.Leu101Leu Synonymous 3/32 -
21-34003382-C-T SYNJ1 c.4762G>A p.Gly1588Ser Missense 32/32 -
21-34037333-T-C SYNJ1 c.2311A>G p.Asn771Asp Missense 18/32 -
21-34099133-C-G SYNJ1 c.191G>C p.Arg64Thr Missense 2/32 -
21-34011215-T-A SYNJ1 c.4032+3A>T - IntronicSNV - 31/31
21-34003574-C-T SYNJ1 c.4570G>A p.Glu1524Lys Missense 32/32 -
21-34015775-G-T SYNJ1 c.3548-8C>A - IntronicSNV - 26/31
21-34029188-T-C SYNJ1 c.2721A>G p.Ile907Met Missense 21/32 -
X-19560236-A-T SH3KBP1 c.1699T>A p.Ser567Thr Missense 16/18 -
21-34003845-G-A SYNJ1 c.4299C>T p.Asn1433Asn Synonymous 32/32 -
21-34014207-G-A SYNJ1 c.3704C>T p.Pro1235Leu Missense 29/32 -
21-34003915-C-T SYNJ1 c.4229G>A p.Ser1410Asn Missense 32/32 -
11-85711800-G-C PICALM c.1040C>G p.Ala347Gly Missense 11/20 -
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 -
21-34014432-G-A SYNJ1 c.3607C>T p.Pro1203Ser Missense 28/32 -
11-85692946-G-A PICALM c.1617C>T p.Asp539Asp Synonymous 15/20 -
21-34017324-T-A SYNJ1 c.3509-8A>T - IntronicSNV - 25/31
21-34018105-A-C SYNJ1 c.3365-6T>G - IntronicSNV - 24/31
21-34099201-C-A SYNJ1 c.123G>T p.Ala41Ala Synonymous 2/32 -
21-34072295-G-A SYNJ1 c.449C>T p.Ser150Leu Missense 4/32 -
21-34029351-C-A SYNJ1 c.2658G>T p.Leu886Leu Synonymous 20/32 -
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 -
X-19725101-G-A SH3KBP1 c.288C>T p.Gly96Gly Synonymous 4/18 -
X-19587217-T-C SH3KBP1 c.1384+4A>G - IntronicSNV - 13/17
X-19626104-G-A SH3KBP1 c.957C>T p.Pro319Pro Synonymous 9/18 -
21-34018745-T-C SYNJ1 c.3322A>G p.Ser1108Gly Missense 24/32 -
X-19626050-A-G SH3KBP1 c.1005+6T>C - IntronicSNV - 9/17
21-34003297-G-A SYNJ1 c.*8C>T - 3-UTRSNV 32/32 -
21-34056372-A-G SYNJ1 c.1293T>C p.Ser431Ser Synonymous 10/32 -
11-85693050-A-G PICALM c.1517-4T>C - IntronicSNV - 14/19
21-34018105-A-G SYNJ1 c.3365-6T>C - IntronicSNV - 24/31
21-34022522-T-G SYNJ1 c.3126A>C p.Ala1042Ala Synonymous 23/32 -
X-19587303-A-G SH3KBP1 c.1302T>C p.Gly434Gly Synonymous 13/18 -
21-34050984-C-T SYNJ1 c.1598G>A p.Arg533Gln Missense 12/32 -
21-34059340-A-G SYNJ1 c.1013T>C p.Val338Ala Missense 8/32 -
21-34002029-G-A SYNJ1 c.*1276C>T - 3-UTRSNV 32/32 -
21-34002029-G-C SYNJ1 c.*1276C>G - 3-UTRSNV 32/32 -
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 -
14-73678630-C-G PSEN1 c.1109C>G p.Ala370Gly Missense 10/12 -
11-85711768-C-G PICALM c.1072G>C p.Ala358Pro Missense 11/20 -
21-34002154-C-T SYNJ1 c.*1151G>A - 3-UTRSNV 32/32 -
21-34007190-T-C SYNJ1 c.4033-3079A>G - IntronicSNV - 31/31
21-34004106-T-C SYNJ1 c.4038A>G p.Lys1346Lys Synonymous 32/32 -
11-85695020-A-G PICALM c.1409-4T>C - IntronicSNV - 13/19
21-34003883-G-A SYNJ1 c.4261C>T p.Arg1421Trp Missense 32/32 -
11-85726006-C-T PICALM c.453G>A p.Gly151Gly Synonymous 5/20 -
11-85726006-C-G PICALM c.453G>C p.Gly151Gly Synonymous 5/20 -
21-34015735-T-C SYNJ1 c.3580A>G p.Arg1194Gly Missense 27/32 -
X-19764501-A-G SH3KBP1 c.221T>C p.Leu74Pro Missense 3/18 -
11-85685838-A-G PICALM c.1857T>C p.Ser619Ser Synonymous 19/20 -
X-19764501-A-C SH3KBP1 c.221T>G p.Leu74Arg Missense 3/18 -
21-34011345-G-A SYNJ1 c.3905C>T p.Pro1302Leu Missense 31/32 -
X-19564147-T-C SH3KBP1 c.1516A>G p.Ile506Val Missense 15/18 -
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 -
21-34066616-C-T SYNJ1 c.828G>A p.Val276Val Synonymous 6/32 -
21-34002592-T-C SYNJ1 c.*713A>G - 3-UTRSNV 32/32 -
11-85701340-T-C PICALM c.1361A>G p.Asp454Gly Missense 13/20 -
X-19713796-T-C SH3KBP1 c.454A>G p.Ile152Val Missense 5/18 -
11-85701414-A-G PICALM c.1287T>C p.Val429Val Synonymous 13/20 -
11-85701414-A-C PICALM c.1287T>G p.Val429Val Synonymous 13/20 -
11-85693046-C-G PICALM c.1517G>C p.Gly506Ala Missense 15/20 -
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 -
11-85779769-G-A PICALM c.54C>T p.Thr18Thr Synonymous 1/20 -
11-85711793-T-A PICALM c.1047A>T p.Lys349Asn Missense 11/20 -
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 -
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 -
21-34001750-G-A SYNJ1 c.*1555C>T - 3-UTRSNV 32/32 -
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 -
21-34029350-G-A SYNJ1 c.2659C>T p.His887Tyr Missense 20/32 -
21-34001697-T-C SYNJ1 c.*1608A>G - 3-UTRSNV 32/32 -
X-19854390-T-A SH3KBP1 c.15A>T p.Ile5Ile Synonymous 2/18 -
21-34003425-C-T SYNJ1 c.4719G>A p.Pro1573Pro Synonymous 32/32 -
X-19606784-C-A SH3KBP1 c.1275G>T p.Pro425Pro Synonymous 12/18 -
21-34099108-G-C SYNJ1 c.216C>G p.Phe72Leu Missense 2/32 -
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
21-34022662-G-A SYNJ1 c.2992-6C>T - IntronicSNV - 22/31
21-34003375-C-T SYNJ1 c.4769G>A p.Ser1590Asn Missense 32/32 -
X-19610189-T-G SH3KBP1 c.1134A>C p.Glu378Asp Missense 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 -
21-34029345-A-G SYNJ1 c.2664T>C p.Tyr888Tyr Synonymous 20/32 -
11-85669951-C-T PICALM c.*138G>A - 3-UTRSNV 20/20 -
11-85701449-A-T PICALM c.1259-7T>A - IntronicSNV - 12/19
X-19560319-G-A SH3KBP1 c.1624-8C>T - IntronicSNV - 15/17
X-19552522-C-T SH3KBP1 c.*2013G>A - 3-UTRSNV 18/18 -
21-34038402-T-C SYNJ1 c.2113A>G p.Thr705Ala Missense 17/32 -
21-34003665-A-G SYNJ1 c.4479T>C p.Ala1493Ala Synonymous 32/32 -
21-34011381-G-C SYNJ1 c.3869C>G p.Ser1290Cys Missense 31/32 -
X-19610189-T-C SH3KBP1 c.1134A>G p.Glu378Glu Synonymous 11/18 -
X-19626077-C-T SH3KBP1 c.984G>A p.Pro328Pro Synonymous 9/18 -
11-85692958-T-G PICALM c.1605A>C p.Leu535Phe Missense 15/20 -
11-85701449-A-G PICALM c.1259-7T>C - IntronicSNV - 12/19
X-19587279-G-A SH3KBP1 c.1326C>T p.Ala442Ala Synonymous 13/18 -
21-34018800-G-C SYNJ1 c.3267C>G p.Pro1089Pro Synonymous 24/32 -
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 -
11-85694974-C-T PICALM c.1451G>A p.Gly484Asp Missense 14/20 -
11-85726004-G-C PICALM c.455C>G p.Ala152Gly Missense 5/20 -
21-34030052-C-T SYNJ1 c.2552G>A p.Arg851Lys Missense 19/32 -
X-19613091-C-G SH3KBP1 c.1033G>C p.Ala345Pro Missense 10/18 -
X-19613091-C-T SH3KBP1 c.1033G>A p.Ala345Thr Missense 10/18 -
21-34053940-C-T SYNJ1 c.1336G>A p.Glu446Lys Missense 11/32 -
21-34038364-G-A SYNJ1 c.2151C>T p.Phe717Phe Synonymous 17/32 -
21-34003352-T-C SYNJ1 c.4792A>G p.Thr1598Ala Missense 32/32 -
21-34038430-A-G SYNJ1 c.2085T>C p.Asp695Asp Synonymous 17/32 -
11-85694979-T-G PICALM c.1446A>C p.Ser482Ser Synonymous 14/20 -
X-19606874-A-G SH3KBP1 c.1185T>C p.Val395Val Synonymous 12/18 -
11-85711695-G-A PICALM c.1145C>T p.Ser382Phe Missense 11/20 -
21-34045650-C-A SYNJ1 c.1843G>T p.Asp615Tyr Missense 14/32 -
11-85712098-C-T PICALM c.997G>A p.Ala333Thr Missense 10/20 -
21-34017281-C-T SYNJ1 c.3544G>A p.Gly1182Arg Missense 26/32 -
X-19553915-G-T SH3KBP1 c.*620C>A - 3-UTRSNV 18/18 -
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 -
21-34017963-C-T SYNJ1 c.3501G>A p.Pro1167Pro Synonymous 25/32 -
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 -
11-85779929-T-C PICALM c.1-107A>G - 5-UTRSNV 1/20 -
21-34029206-G-A SYNJ1 c.2703C>T p.Val901Val Synonymous 21/32 -
21-34099111-C-T SYNJ1 c.213G>A p.Met71Ile Missense 2/32 -
21-34003396-G-A SYNJ1 c.4748C>T p.Pro1583Leu Missense 32/32 -
21-34067561-A-G SYNJ1 c.628T>C p.Tyr210His Missense 5/32 -
X-19560072-G-T SH3KBP1 c.1863C>A p.Ser621Arg Missense 16/18 -
11-85692788-T-C PICALM c.1679A>G p.Asn560Ser Missense 16/20 -
11-85779826-T-C PICALM c.1-4A>G - 5-UTRSNV 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 -
21-34001638-C-A SYNJ1 c.*1667G>T - 3-UTRSNV 32/32 -
11-85779729-G-C PICALM c.94C>G p.His32Asp Missense 1/20 -
21-34017965-G-T SYNJ1 c.3499C>A p.Pro1167Thr Missense 25/32 -
X-19568110-C-T SH3KBP1 c.1476G>A p.Pro492Pro Synonymous 14/18 -
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 -
21-34014283-C-A SYNJ1 c.3635-7G>T - IntronicSNV - 28/31
21-34067530-C-T SYNJ1 c.659G>A p.Arg220His Missense 5/32 -
21-34003795-G-A SYNJ1 c.4349C>T p.Ala1450Val Missense 32/32 -
11-85742565-C-T PICALM c.219G>A p.Val73Val Synonymous 2/20 -
21-34072303-G-A SYNJ1 c.441C>T p.Ile147Ile Synonymous 4/32 -
21-34066600-C-A SYNJ1 c.844G>T p.Val282Phe Missense 6/32 -
21-34066600-C-T SYNJ1 c.844G>A p.Val282Ile Missense 6/32 -
21-34003354-G-A SYNJ1 c.4790C>T p.Thr1597Met Missense 32/32 -
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 -
21-34001585-C-G SYNJ1 c.*1720G>C - 3-UTRSNV 32/32 -
21-34066592-G-T SYNJ1 c.852C>A p.Ser284Ser Synonymous 6/32 -
X-19568152-A-G SH3KBP1 c.1434T>C p.His478His Synonymous 14/18 -
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 -
11-85694978-C-A PICALM c.1447G>T p.Ala483Ser Missense 14/20 -
21-34067360-T-C SYNJ1 c.822+7A>G - IntronicSNV - 5/31
X-19606793-C-T SH3KBP1 c.1266G>A p.Pro422Pro Synonymous 12/18 -
11-85742565-C-G PICALM c.219G>C p.Val73Val Synonymous 2/20 -
21-34012064-A-G SYNJ1 c.3731T>C p.Ile1244Thr Missense 30/32 -
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 -
21-34017950-T-G SYNJ1 c.3508+6A>C - IntronicSNV - 25/31
11-85692193-G-A PICALM c.1758C>T p.Thr586Thr Synonymous 17/20 -
21-34003044-A-G SYNJ1 c.*261T>C - 3-UTRSNV 32/32 -
11-85779719-A-G PICALM c.104T>C p.Met35Thr Missense 1/20 -
21-34012087-C-T SYNJ1 c.3708G>A p.Thr1236Thr Synonymous 30/32 -
X-19854264-C-A SH3KBP1 c.141G>T p.Leu47Phe Missense 2/18 -
11-85692180-C-T PICALM c.1771G>A p.Ala591Thr Missense 17/20 -
21-34038355-G-C SYNJ1 c.2160C>G p.Thr720Thr Synonymous 17/32 -
X-19713796-T-G SH3KBP1 c.454A>C p.Ile152Leu Missense 5/18 -
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 -
21-34099160-G-A SYNJ1 c.164C>T p.Pro55Leu Missense 2/32 -
X-19552469-G-T SH3KBP1 c.*2066C>A - 3-UTRSNV 18/18 -
21-34038317-T-G SYNJ1 c.2198A>C p.Gln733Pro Missense 17/32 -
X-19713839-T-C SH3KBP1 c.411A>G p.Glu137Glu Synonymous 5/18 -
21-34017969-A-T SYNJ1 c.3495T>A p.Pro1165Pro Synonymous 25/32 -
21-34067471-C-A SYNJ1 c.718G>T p.Ala240Ser Missense 5/32 -
X-19552901-G-A SH3KBP1 c.*1634C>T - 3-UTRSNV 18/18 -
21-34003745-A-T SYNJ1 c.4399T>A p.Ser1467Thr Missense 32/32 -
21-34003929-A-AGTAATA SYNJ1 c.4215_4216insATTACT p.Val1405_leu1406insIlethr InFrameInsertion 32/32 -
21-34022622-C-G SYNJ1 c.3026G>C p.Ser1009Thr Missense 23/32 -
21-34045675-C-G SYNJ1 c.1818G>C p.Lys606Asn Missense 14/32 -
11-85723400-A-G PICALM c.582T>C p.Asn194Asn Synonymous 6/20 -
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 -
21-34099086-G-A SYNJ1 c.238C>T p.Leu80Phe Missense 2/32 -
11-85712144-G-C PICALM c.951C>G p.Thr317Thr Synonymous 10/20 -
21-34003928-A-G SYNJ1 c.4216T>C p.Leu1406Leu Synonymous 32/32 -
11-85694978-C-G PICALM c.1447G>C p.Ala483Pro Missense 14/20 -
21-34015763-A-G SYNJ1 c.3552T>C p.Ile1184Ile Synonymous 27/32 -
21-34072278-A-G SYNJ1 c.466T>C p.Ser156Pro Missense 4/32 -
21-34003824-G-C SYNJ1 c.4320C>G p.Thr1440Thr Synonymous 32/32 -
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-19606859-T-C SH3KBP1 c.1200A>G p.Pro400Pro Synonymous 12/18 -
21-34017964-G-T SYNJ1 c.3500C>A p.Pro1167Gln Missense 25/32 -
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 -
21-34003301-G-T SYNJ1 c.*4C>A - 3-UTRSNV 32/32 -
21-34012076-C-T SYNJ1 c.3719G>A p.Arg1240His Missense 30/32 -
21-34038826-G-C SYNJ1 c.1986C>G p.Asn662Lys Missense 16/32 -
21-34045799-T-C SYNJ1 c.1694A>G p.Lys565Arg Missense 14/32 -
21-34051038-A-G SYNJ1 c.1544T>C p.Ile515Thr Missense 12/32 -
21-34037263-A-G SYNJ1 c.2381T>C p.Ile794Thr Missense 18/32 -
21-34037270-A-G SYNJ1 c.2374T>C p.Ser792Pro Missense 18/32 -
21-34011297-T-C SYNJ1 c.3953A>G p.Asn1318Ser Missense 31/32 -
21-34022661-C-T SYNJ1 c.2992-5G>A - IntronicSNV - 22/31
21-34002004-T-A SYNJ1 c.*1301A>T - 3-UTRSNV 32/32 -
21-34003926-C-T SYNJ1 c.4218G>A p.Leu1406Leu Synonymous 32/32 -
11-85692810-T-C PICALM c.1657A>G p.Ile553Val Missense 16/20 -
21-34045698-C-G SYNJ1 c.1795G>C p.Asp599His Missense 14/32 -
21-34056342-T-G SYNJ1 c.1317+6A>C - IntronicSNV - 10/31
21-34018000-G-A SYNJ1 c.3464C>T p.Pro1155Leu Missense 25/32 -
21-34056342-T-C SYNJ1 c.1317+6A>G - IntronicSNV - 10/31
21-34029372-C-T SYNJ1 c.2637G>A p.Thr879Thr Synonymous 20/32 -
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
X-19702006-C-T SH3KBP1 c.661G>A p.Asp221Asn Missense 6/18 -
21-34029387-G-T SYNJ1 c.2622C>A p.Ser874Arg Missense 20/32 -
11-85692965-C-T PICALM c.1598G>A p.Ser533Asn Missense 15/20 -
21-34018713-G-A SYNJ1 c.3354C>T p.Pro1118Pro Synonymous 24/32 -
21-34003405-G-A SYNJ1 c.4739C>T p.Pro1580Leu Missense 32/32 -
21-34018722-A-G SYNJ1 c.3345T>C p.Pro1115Pro Synonymous 24/32 -
21-34003353-C-T SYNJ1 c.4791G>A p.Thr1597Thr Synonymous 32/32 -
X-19854348-C-G SH3KBP1 c.57G>C p.Thr19Thr Synonymous 2/18 -
21-34038427-A-G SYNJ1 c.2088T>C p.Thr696Thr Synonymous 17/32 -
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-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 -
21-34003625-G-A SYNJ1 c.4519C>T p.Gln1507* Nonsense 32/32 -
21-34003641-C-T SYNJ1 c.4503G>A p.Lys1501Lys Synonymous 32/32 -
21-34003929-A-AGTACTA SYNJ1 c.4215_4216insAGTACT p.Val1405_leu1406insSerthr InFrameInsertion 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 -
X-19587259-A-G SH3KBP1 c.1346T>C p.Ile449Thr Missense 13/18 -
21-34003909-A-G SYNJ1 c.4235T>C p.Met1412Thr Missense 32/32 -
21-34014243-G-A SYNJ1 c.3668C>T p.Ala1223Val Missense 29/32 -
11-85714487-C-T PICALM c.815G>A p.Ser272Asn Missense 9/20 -
21-34029368-T-C SYNJ1 c.2641A>G p.Thr881Ala Missense 20/32 -
21-34011260-C-A SYNJ1 c.3990G>T p.Arg1330Ser Missense 31/32 -
X-19560254-C-T SH3KBP1 c.1681G>A p.Gly561Ser Missense 16/18 -
21-34042681-A-G SYNJ1 c.1845T>C p.Asp615Asp Synonymous 15/32 -
21-34056355-C-T SYNJ1 c.1310G>A p.Gly437Asp Missense 10/32 -
X-19560254-C-A SH3KBP1 c.1681G>T p.Gly561Cys Missense 16/18 -
11-85685782-G-C PICALM c.1913C>G p.Pro638Arg Missense 19/20 -
X-19725088-G-C SH3KBP1 c.301C>G p.Arg101Gly Missense 4/18 -
X-19553611-G-C SH3KBP1 c.*924C>G - 3-UTRSNV 18/18 -
11-85742601-G-A PICALM c.183C>T p.Asp61Asp Synonymous 2/20 -
21-34011325-G-T SYNJ1 c.3925C>A p.Pro1309Thr Missense 31/32 -
X-19553553-T-C SH3KBP1 c.*982A>G - 3-UTRSNV 18/18 -
21-34018898-A-C SYNJ1 c.3169T>G p.Tyr1057Asp Missense 24/32 -
21-34018898-A-G SYNJ1 c.3169T>C p.Tyr1057His Missense 24/32 -
14-73659375-T-C PSEN1 c.572T>C p.Val191Ala Missense 7/12 -
21-34003394-G-A SYNJ1 c.4750C>T p.Leu1584Leu Synonymous 32/32 -
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 -
21-34002476-T-C SYNJ1 c.*829A>G - 3-UTRSNV 32/32 -
21-34053914-A-G SYNJ1 c.1362T>C p.Pro454Pro Synonymous 11/32 -
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 -
21-34017298-G-A SYNJ1 c.3527C>T p.Pro1176Leu Missense 26/32 -
21-34003666-G-T SYNJ1 c.4478C>A p.Ala1493Asp Missense 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 -
21-34037301-A-T SYNJ1 c.2343T>A p.Val781Val Synonymous 18/32 -
21-34053853-T-A SYNJ1 c.1423A>T p.Ile475Phe Missense 11/32 -
21-34029205-C-T SYNJ1 c.2704G>A p.Val902Ile Missense 21/32 -
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 -
11-85687667-A-G PICALM c.1838T>C p.Ile613Thr Missense 18/20 -
11-85685820-T-C PICALM c.1875A>G p.Gln625Gln Synonymous 19/20 -
21-34099114-G-C SYNJ1 c.210C>G p.Leu70Leu Synonymous 2/32 -
11-85723408-C-T PICALM c.574G>A p.Val192Ile Missense 6/20 -
11-85707955-T-C PICALM c.1172A>G p.Asn391Ser Missense 12/20 -
21-34011299-T-A SYNJ1 c.3951A>T p.Pro1317Pro Synonymous 31/32 -
X-19713801-T-C SH3KBP1 c.449A>G p.Asn150Ser Missense 5/18 -
X-19554493-C-T SH3KBP1 c.*42G>A - 3-UTRSNV 18/18 -
21-34003990-G-A SYNJ1 c.4154C>T p.Pro1385Leu Missense 32/32 -
X-19606804-G-A SH3KBP1 c.1255C>T p.Pro419Ser Missense 12/18 -
21-34001670-A-T SYNJ1 c.*1635T>A - 3-UTRSNV 32/32 -
21-34072218-T-C SYNJ1 c.526A>G p.Ile176Val Missense 4/32 -
21-34011987-A-G SYNJ1 c.3808T>C p.Ser1270Pro Missense 30/32 -
11-85693002-G-C PICALM c.1561C>G p.Gln521Glu Missense 15/20 -
11-85692991-G-T PICALM c.1572C>A p.Asn524Lys Missense 15/20 -
11-85733410-C-G PICALM c.452G>C p.Gly151Ala Missense 4/20 -
11-85701350-T-C PICALM c.1351A>G p.Ile451Val Missense 13/20 -
11-85701350-T-G PICALM c.1351A>C p.Ile451Leu Missense 13/20 -
21-34004010-C-G SYNJ1 c.4134G>C p.Gln1378His Missense 32/32 -
X-19555849-G-A SH3KBP1 c.1942C>T p.Arg648Trp Missense 17/18 -
X-19560215-G-C SH3KBP1 c.1720C>G p.Leu574Val Missense 16/18 -
21-34003454-C-T SYNJ1 c.4690G>A p.Gly1564Ser Missense 32/32 -
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 -
11-85711730-A-G PICALM c.1110T>C p.Thr370Thr Synonymous 11/20 -
21-34038343-G-A SYNJ1 c.2172C>T p.Phe724Phe Synonymous 17/32 -
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 -
21-34053902-A-C SYNJ1 c.1374T>G p.Thr458Thr Synonymous 11/32 -
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 -
21-34037321-C-T SYNJ1 c.2323G>A p.Asp775Asn Missense 18/32 -
21-34015746-G-A SYNJ1 c.3569C>T p.Pro1190Leu Missense 27/32 -
X-19560276-C-T SH3KBP1 c.1659G>A p.Pro553Pro Synonymous 16/18 -
X-19701950-C-T SH3KBP1 c.717G>A p.Pro239Pro Synonymous 6/18 -
21-34058130-C-A SYNJ1 c.1163G>T p.Ser388Ile Missense 9/32 -
21-34053799-G-A SYNJ1 c.1470+7C>T - IntronicSNV - 11/31
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
21-34003102-C-A SYNJ1 c.*203G>T - 3-UTRSNV 32/32 -
21-34029434-C-T SYNJ1 c.2579-4G>A - IntronicSNV - 19/31
21-34018893-A-G SYNJ1 c.3174T>C p.Ser1058Ser Synonymous 24/32 -
21-34018893-A-C SYNJ1 c.3174T>G p.Ser1058Arg Missense 24/32 -
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 -
21-34053955-G-C SYNJ1 c.1321C>G p.Leu441Val Missense 11/32 -
11-85701326-T-C PICALM c.1375A>G p.Thr459Ala Missense 13/20 -
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 -
21-34003274-G-T SYNJ1 c.*31C>A - 3-UTRSNV 32/32 -
X-19610246-A-G SH3KBP1 c.1077T>C p.His359His Synonymous 11/18 -
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 -
11-85722076-T-C PICALM c.762A>G p.Ala254Ala Synonymous 7/20 -
21-34022646-C-T SYNJ1 c.3002G>A p.Arg1001Gln Missense 23/32 -
21-34022649-T-C SYNJ1 c.2999A>G p.Asn1000Ser 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 -
11-85670096-A-C PICALM c.1952T>G p.Phe651Cys Missense 20/20 -
21-34003562-C-T SYNJ1 c.4582G>A p.Asp1528Asn Missense 32/32 -
11-85687731-A-G PICALM c.1780-6T>C - IntronicSNV - 17/19
21-34067424-A-C SYNJ1 c.765T>G p.Phe255Leu Missense 5/32 -
21-34001813-T-C SYNJ1 c.*1492A>G - 3-UTRSNV 32/32 -
11-85669874-A-G PICALM c.*215T>C - 3-UTRSNV 20/20 -
21-34003631-C-T SYNJ1 c.4513G>A p.Asp1505Asn Missense 32/32 -
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
21-34072157-C-G SYNJ1 c.587G>C p.Arg196Thr Missense 4/32 -
21-34003790-G-A SYNJ1 c.4354C>T p.Pro1452Ser Missense 32/32 -
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-C SYNJ1 c.2490C>G p.Asp830Glu Missense 19/32 -
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 -
11-85711773-G-A PICALM c.1067C>T p.Thr356Ile Missense 11/20 -
21-34058070-C-T SYNJ1 c.1223G>A p.Ser408Asn Missense 9/32 -
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 -
21-34058076-T-C SYNJ1 c.1217A>G p.Asn406Ser Missense 9/32 -
21-34012026-T-C SYNJ1 c.3769A>G p.Arg1257Gly Missense 30/32 -
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 -
21-34022527-C-G SYNJ1 c.3121G>C p.Asp1041His Missense 23/32 -
21-34011344-A-C SYNJ1 c.3906T>G p.Pro1302Pro Synonymous 31/32 -
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 -
21-34003561-T-A SYNJ1 c.4583A>T p.Asp1528Val Missense 32/32 -
21-34099150-G-T SYNJ1 c.174C>A p.Ser58Arg Missense 2/32 -
11-85692207-C-A PICALM c.1744G>T p.Val582Phe Missense 17/20 -
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 -
21-34018866-C-A SYNJ1 c.3201G>T p.Gln1067His Missense 24/32 -
21-34003556-C-T SYNJ1 c.4588G>A p.Gly1530Ser Missense 32/32 -
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 -
21-34003983-G-T SYNJ1 c.4161C>A p.Pro1387Pro Synonymous 32/32 -
X-19587241-G-A SH3KBP1 c.1364C>T p.Ser455Leu Missense 13/18 -
21-34001355-T-C SYNJ1 c.*1950A>G - 3-UTRSNV 32/32 -
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 -
21-34038790-G-A SYNJ1 c.2022C>T p.Gly674Gly Synonymous 16/32 -
21-34003930-A-G SYNJ1 c.4214T>C p.Val1405Ala Missense 32/32 -
X-19560093-T-G SH3KBP1 c.1842A>C p.Thr614Thr Synonymous 16/18 -
X-19553977-G-A SH3KBP1 c.*558C>T - 3-UTRSNV 18/18 -
11-85711728-G-A PICALM c.1112C>T p.Ala371Val Missense 11/20 -
X-19606785-G-A SH3KBP1 c.1274C>T p.Pro425Leu Missense 12/18 -
21-34003426-G-A SYNJ1 c.4718C>T p.Pro1573Leu Missense 32/32 -
11-85779869-C-T PICALM c.1-47G>A - 5-UTRSNV 1/20 -
11-85779872-G-A PICALM c.1-50C>T - 5-UTRSNV 1/20 -
21-34037362-T-C SYNJ1 c.2282A>G p.His761Arg Missense 18/32 -
11-85725957-C-T PICALM c.502G>A p.Val168Ile Missense 5/20 -
21-34053905-C-G SYNJ1 c.1371G>C p.Val457Val Synonymous 11/32 -
11-85725984-T-C PICALM c.475A>G p.Met159Val Missense 5/20 -
21-34003309-C-G SYNJ1 c.4835G>C p.Arg1612Thr Missense 32/32 -
21-34029077-T-C SYNJ1 c.2832A>G p.Pro944Pro Synonymous 21/32 -
21-34029193-C-A SYNJ1 c.2716G>T p.Asp906Tyr Missense 21/32 -
11-85707928-G-C PICALM c.1199C>G p.Thr400Ser Missense 12/20 -
11-85707951-A-G PICALM c.1176T>C p.Asp392Asp Synonymous 12/20 -
X-19560105-C-T SH3KBP1 c.1830G>A p.Glu610Glu Synonymous 16/18 -
X-19552310-T-C SH3KBP1 c.*2225A>G - 3-UTRSNV 18/18 -
X-19663601-G-C SH3KBP1 c.727-8C>G - IntronicSNV - 6/17
21-34022499-A-G SYNJ1 c.3149T>C p.Met1050Thr Missense 23/32 -
X-19764504-G-A SH3KBP1 c.218C>T p.Pro73Leu Missense 3/18 -
21-34025592-C-T SYNJ1 c.2991+6G>A - IntronicSNV - 22/31
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 -
11-85685804-T-C PICALM c.1891A>G p.Ser631Gly Missense 19/20 -
X-19610220-C-A SH3KBP1 c.1103G>T p.Arg368Ile Missense 11/18 -
21-34037362-T-G SYNJ1 c.2282A>C p.His761Pro Missense 18/32 -
21-34018895-T-C SYNJ1 c.3172A>G p.Ser1058Gly Missense 24/32 -
11-85725957-C-G PICALM c.502G>C p.Val168Leu Missense 5/20 -
21-34053868-C-T SYNJ1 c.1408G>A p.Val470Met Missense 11/32 -
21-34051073-C-T SYNJ1 c.1509G>A p.Gln503Gln Synonymous 12/32 -
X-19560317-A-G SH3KBP1 c.1624-6T>C - IntronicSNV - 15/17
11-85779868-A-G PICALM c.1-46T>C - 5-UTRSNV 1/20 -
X-19564064-A-G SH3KBP1 c.1599T>C p.Thr533Thr Synonymous 15/18 -
21-34003309-C-T SYNJ1 c.4835G>A p.Arg1612Lys Missense 32/32 -
11-85779831-C-T PICALM c.1-9G>A - 5-UTRSNV 1/20 -
21-34018806-A-C SYNJ1 c.3261T>G p.Thr1087Thr Synonymous 24/32 -
21-34018806-A-G SYNJ1 c.3261T>C p.Thr1087Thr Synonymous 24/32 -
X-19560105-C-G SH3KBP1 c.1830G>C p.Glu610Asp Missense 16/18 -
21-34058174-G-A SYNJ1 c.1119C>T p.Asp373Asp Synonymous 9/32 -
X-19553804-T-C SH3KBP1 c.*731A>G - 3-UTRSNV 18/18 -
21-34015771-T-C SYNJ1 c.3548-4A>G - IntronicSNV - 26/31
21-34029139-C-T SYNJ1 c.2770G>A p.Val924Ile Missense 21/32 -
21-34045747-A-G SYNJ1 c.1746T>C p.Asn582Asn Synonymous 14/32 -
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-19552189-T-TT SH3KBP1 c.*2346_*2346dup - 3-UTRInsertion 18/18 -
21-34015750-T-C SYNJ1 c.3565A>G p.Ser1189Gly Missense 27/32 -
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 -
21-34025612-G-A SYNJ1 c.2977C>T p.Leu993Leu Synonymous 22/32 -
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 -
21-34056424-T-C SYNJ1 c.1241A>G p.Gln414Arg Missense 10/32 -
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 -
11-85711739-C-A PICALM c.1101G>T p.Gly367Gly Synonymous 11/20 -
11-85722168-C-G PICALM c.670G>C p.Asp224His Missense 7/20 -
11-85722168-C-T PICALM c.670G>A p.Asp224Asn Missense 7/20 -
21-34072356-G-C SYNJ1 c.388C>G p.Gln130Glu Missense 4/32 -
11-85711739-C-T PICALM c.1101G>A p.Gly367Gly Synonymous 11/20 -
21-34072159-A-G SYNJ1 c.585T>C p.Asn195Asn Synonymous 4/32 -
X-19564078-C-T SH3KBP1 c.1585G>A p.Ala529Thr Missense 15/18 -
21-34029048-A-G SYNJ1 c.2861T>C p.Ile954Thr Missense 21/32 -
X-19554576-T-C SH3KBP1 c.1957A>G p.Met653Val Missense 18/18 -
X-19610249-T-C SH3KBP1 c.1074A>G p.Lys358Lys Synonymous 11/18 -
11-85718608-C-T PICALM c.784G>A p.Gly262Ser Missense 8/20 -
11-85685839-C-A PICALM c.1856G>T p.Ser619Ile Missense 19/20 -
21-34011219-T-C SYNJ1 c.4031A>G p.Gln1344Arg Missense 31/32 -
X-19553823-A-T SH3KBP1 c.*712T>A - 3-UTRSNV 18/18 -
21-34066531-C-G SYNJ1 c.906+7G>C - IntronicSNV - 6/31
21-34056436-C-G SYNJ1 c.1236-7G>C - IntronicSNV - 9/31
21-34056436-C-T SYNJ1 c.1236-7G>A - IntronicSNV - 9/31
21-34037370-T-A SYNJ1 c.2274A>T p.Leu758Leu Synonymous 18/32 -
11-85723384-G-T PICALM c.598C>A p.Leu200Met Missense 6/20 -
11-85687680-T-G PICALM c.1825A>C p.Ile609Leu Missense 18/20 -
11-85692816-G-A PICALM c.1651C>T p.Leu551Phe Missense 16/20 -
21-34029404-T-C SYNJ1 c.2605A>G p.Ser869Gly Missense 20/32 -
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 -
21-34002605-G-A SYNJ1 c.*700C>T - 3-UTRSNV 32/32 -
X-19764471-A-G SH3KBP1 c.251T>C p.Leu84Pro Missense 3/18 -
11-85742613-T-C PICALM c.171A>G p.Pro57Pro Synonymous 2/20 -
11-85685839-C-T PICALM c.1856G>A p.Ser619Asn Missense 19/20 -
21-34066544-C-T SYNJ1 c.900G>A p.Gly300Gly Synonymous 6/32 -
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 -
21-34099146-T-C SYNJ1 c.178A>G p.Ile60Val Missense 2/32 -
21-34017985-G-A SYNJ1 c.3479C>T p.Ala1160Val Missense 25/32 -
X-19606803-G-A SH3KBP1 c.1256C>T p.Pro419Leu Missense 12/18 -
11-85692806-C-A PICALM c.1661G>T p.Gly554Val Missense 16/20 -
X-19606803-G-T SH3KBP1 c.1256C>A p.Pro419Gln Missense 12/18 -
X-19554093-C-T SH3KBP1 c.*442G>A - 3-UTRSNV 18/18 -
21-34099182-T-C SYNJ1 c.142A>G p.Ile48Val Missense 2/32 -
21-34056381-T-C SYNJ1 c.1284A>G p.Arg428Arg Synonymous 10/32 -
11-85712123-C-T PICALM c.972G>A p.Lys324Lys Synonymous 10/20 -
21-34059353-T-G SYNJ1 c.1000A>C p.Lys334Gln Missense 8/32 -
21-34003386-C-T SYNJ1 c.4758G>A p.Pro1586Pro Synonymous 32/32 -
X-19564163-G-T SH3KBP1 c.1500C>A p.Ser500Ser Synonymous 15/18 -
X-19564094-C-T SH3KBP1 c.1569G>A p.Ala523Ala Synonymous 15/18 -
21-34053918-T-C SYNJ1 c.1358A>G p.Lys453Arg Missense 11/32 -
21-34001981-G-A SYNJ1 c.*1324C>T - 3-UTRSNV 32/32 -
21-34011346-G-A SYNJ1 c.3904C>T p.Pro1302Ser Missense 31/32 -
21-34003476-T-C SYNJ1 c.4668A>G p.Thr1556Thr Synonymous 32/32 -
X-19713827-G-A SH3KBP1 c.423C>T p.Asn141Asn Synonymous 5/18 -
21-34074305-T-C SYNJ1 c.294A>G p.Ala98Ala Synonymous 3/32 -
11-85685815-G-T PICALM c.1880C>A p.Thr627Asn Missense 19/20 -
11-85692926-T-C PICALM c.1637A>G p.Asn546Ser Missense 15/20 -
11-85669872-T-C PICALM c.*217A>G - 3-UTRSNV 20/20 -
21-34051063-A-C SYNJ1 c.1519T>G p.Phe507Val Missense 12/32 -
X-19554239-T-C SH3KBP1 c.*296A>G - 3-UTRSNV 18/18 -
X-19560171-C-G SH3KBP1 c.1764G>C p.Pro588Pro Synonymous 16/18 -
21-34003331-G-T SYNJ1 c.4813C>A p.Pro1605Thr Missense 32/32 -
X-19560171-C-T SH3KBP1 c.1764G>A p.Pro588Pro Synonymous 16/18 -
11-85712159-A-G PICALM c.936T>C p.Thr312Thr Synonymous 10/20 -
11-85779876-C-A PICALM c.1-54G>T - 5-UTRSNV 1/20 -
21-34003298-C-A SYNJ1 c.*7G>T - 3-UTRSNV 32/32 -
X-19555870-A-G SH3KBP1 c.1921T>C p.Leu641Leu Synonymous 17/18 -
21-34067462-T-C SYNJ1 c.727A>G p.Ile243Val Missense 5/32 -
21-34002165-T-C SYNJ1 c.*1140A>G - 3-UTRSNV 32/32 -
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 -
21-34058095-A-T SYNJ1 c.1198T>A p.Tyr400Asn Missense 9/32 -
21-34003179-A-T SYNJ1 c.*126T>A - 3-UTRSNV 32/32 -
21-34018755-G-A SYNJ1 c.3312C>T p.Pro1104Pro Synonymous 24/32 -
X-19613095-T-G SH3KBP1 c.1029A>C p.Pro343Pro Synonymous 10/18 -
11-85779717-C-G PICALM c.106G>C p.Gly36Arg Missense 1/20 -
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 -
21-34018046-G-C SYNJ1 c.3418C>G p.Gln1140Glu Missense 25/32 -
21-34003477-G-A SYNJ1 c.4667C>T p.Thr1556Ile Missense 32/32 -
21-34100294-C-T SYNJ1 c.58G>A p.Gly20Ser Missense 1/32 -
11-85695023-A-G PICALM c.1409-7T>C - IntronicSNV - 13/19
11-85711811-T-A PICALM c.1029A>T p.Leu343Leu Synonymous 11/20 -
11-85711811-T-C PICALM c.1029A>G p.Leu343Leu Synonymous 11/20 -
21-34037226-T-C SYNJ1 c.2418A>G p.Gly806Gly Synonymous 18/32 -
21-34072177-T-C SYNJ1 c.567A>G p.Gln189Gln Synonymous 4/32 -
21-34100294-C-A SYNJ1 c.58G>T p.Gly20Cys Missense 1/32 -
21-34058069-A-G SYNJ1 c.1224T>C p.Ser408Ser Synonymous 9/32 -
X-19854270-T-C SH3KBP1 c.135A>G p.Arg45Arg Synonymous 2/18 -
21-34060616-C-T SYNJ1 c.968G>A p.Arg323Lys Missense 7/32 -
11-85722066-A-G PICALM c.765+7T>C - IntronicSNV - 7/19
21-34067463-G-A SYNJ1 c.726C>T p.Leu242Leu Synonymous 5/32 -
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 -
21-34003434-A-G SYNJ1 c.4710T>C p.Cys1570Cys Synonymous 32/32 -
11-85722079-A-C PICALM c.759T>G p.Val253Val Synonymous 7/20 -
21-34002669-C-T SYNJ1 c.*636G>A - 3-UTRSNV 32/32 -
11-85685862-A-C PICALM c.1840-7T>G - IntronicSNV - 18/19
X-19606822-T-C SH3KBP1 c.1237A>G p.Arg413Gly Missense 12/18 -
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 -
21-34003449-T-C SYNJ1 c.4695A>G p.Thr1565Thr Synonymous 32/32 -
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 -
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 -
11-85714456-T-C PICALM c.846A>G p.Leu282Leu Synonymous 9/20 -
X-19560160-C-T SH3KBP1 c.1775G>A p.Gly592Asp Missense 16/18 -
21-34038278-A-G SYNJ1 c.2237T>C p.Ile746Thr Missense 17/32 -
21-34072321-C-T SYNJ1 c.423G>A p.Glu141Glu Synonymous 4/32 -
X-19554059-G-A SH3KBP1 c.*476C>T - 3-UTRSNV 18/18 -
21-34053881-C-T SYNJ1 c.1395G>A p.Arg465Arg Synonymous 11/32 -
X-19610272-G-A SH3KBP1 c.1058-7C>T - IntronicSNV - 10/17
21-34029170-T-C SYNJ1 c.2739A>G p.Glu913Glu 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 -
21-34018770-A-G SYNJ1 c.3297T>C p.Pro1099Pro Synonymous 24/32 -
X-19568181-C-T SH3KBP1 c.1405G>A p.Val469Met Missense 14/18 -
21-34037245-A-G SYNJ1 c.2399T>C p.Ile800Thr Missense 18/32 -
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 -
21-34037232-A-G SYNJ1 c.2412T>C p.Asn804Asn Synonymous 18/32 -
21-34003539-T-C SYNJ1 c.4605A>G p.Ser1535Ser Synonymous 32/32 -
21-34051014-G-C SYNJ1 c.1568C>G p.Thr523Ser Missense 12/32 -
21-34100317-T-C SYNJ1 c.35A>G p.Asp12Gly Missense 1/32 -
21-34067517-T-A SYNJ1 c.672A>T p.Gly224Gly Synonymous 5/32 -
X-19554565-G-A SH3KBP1 c.1968C>T p.Asn656Asn Synonymous 18/18 -
11-85692985-A-C PICALM c.1578T>G p.Pro526Pro Synonymous 15/20 -
11-85701383-G-A PICALM c.1318C>T p.Leu440Phe Missense 13/20 -
11-85707947-G-C PICALM c.1180C>G p.Leu394Val Missense 12/20 -
21-34038285-T-C SYNJ1 c.2230A>G p.Ile744Val Missense 17/32 -
21-34001625-C-T SYNJ1 c.*1680G>A - 3-UTRSNV 32/32 -
21-34001627-G-A SYNJ1 c.*1678C>T - 3-UTRSNV 32/32 -
21-34050958-G-A SYNJ1 c.1624C>T p.Arg542Cys Missense 12/32 -
21-34099087-C-A SYNJ1 c.237G>T p.Val79Val Synonymous 2/32 -
21-34012032-C-A SYNJ1 c.3763G>T p.Ala1255Ser Missense 30/32 -
X-19560250-C-T SH3KBP1 c.1685G>A p.Gly562Glu Missense 16/18 -
21-34003953-C-A SYNJ1 c.4191G>T p.Leu1397Phe Missense 32/32 -
21-34002359-C-T SYNJ1 c.*946G>A - 3-UTRSNV 32/32 -
21-34074283-G-A SYNJ1 c.316C>T p.Arg106Trp Missense 3/32 -
21-34003885-G-A SYNJ1 c.4259C>T p.Ala1420Val Missense 32/32 -
21-34030141-C-T SYNJ1 c.2463G>A p.Pro821Pro Synonymous 19/32 -
21-34003513-C-A SYNJ1 c.4631G>T p.Gly1544Val Missense 32/32 -
11-85733523-A-AA PICALM c.350-5_350-5dup - IntronicInsertion - 3/19
21-34011261-C-G SYNJ1 c.3989G>C p.Arg1330Thr Missense 31/32 -
21-34011336-G-C SYNJ1 c.3914C>G p.Pro1305Arg 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 -
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 -
X-19564136-G-A SH3KBP1 c.1527C>T p.Ser509Ser Synonymous 15/18 -
21-34003304-G-A SYNJ1 c.*1C>T - 3-UTRSNV 32/32 -
X-19613088-G-A SH3KBP1 c.1036C>T p.Pro346Ser Missense 10/18 -
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 -
21-34007186-T-C SYNJ1 c.4033-3075A>G - IntronicSNV - 31/31
21-34067599-G-A SYNJ1 c.597-7C>T - IntronicSNV - 4/31
21-34038272-C-T SYNJ1 c.2243G>A p.Arg748Gln Missense 17/32 -
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 -
X-19606775-C-G SH3KBP1 c.1284G>C p.Pro428Pro Synonymous 12/18 -
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 -
21-34003378-G-C SYNJ1 c.4766C>G p.Thr1589Ser Missense 32/32 -
21-34017296-T-C SYNJ1 c.3529A>G p.Thr1177Ala Missense 26/32 -
11-85742540-T-C PICALM c.244A>G p.Thr82Ala Missense 2/20 -
21-34030162-T-C SYNJ1 c.2442A>G p.Glu814Glu Synonymous 19/32 -
21-34053862-C-A SYNJ1 c.1414G>T p.Gly472Cys Missense 11/32 -
21-34030048-C-T SYNJ1 c.2556G>A p.Arg852Arg Synonymous 19/32 -
11-85714497-G-A PICALM c.808-3C>T - IntronicSNV - 8/19
X-19560301-T-C SH3KBP1 c.1634A>G p.Asn545Ser Missense 16/18 -
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 -
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 -
21-34012018-A-G SYNJ1 c.3777T>C p.Thr1259Thr Synonymous 30/32 -
11-85701411-A-G PICALM c.1290T>C p.Asp430Asp Synonymous 13/20 -
X-19854342-G-A SH3KBP1 c.63C>T p.Ser21Ser Synonymous 2/18 -
14-73673138-G-T PSEN1 c.913G>T p.Ala305Ser Missense 9/12 -
21-34029103-A-G SYNJ1 c.2806T>C p.Leu936Leu Synonymous 21/32 -
21-34030156-C-T SYNJ1 c.2448G>A p.Lys816Lys Synonymous 19/32 -
21-34038825-T-C SYNJ1 c.1987A>G p.Lys663Glu Missense 16/32 -
21-34099164-G-A SYNJ1 c.160C>T p.Pro54Ser Missense 2/32 -
X-19650017-T-C SH3KBP1 c.862A>G p.Ile288Val Missense 8/18 -
21-34099164-G-T SYNJ1 c.160C>A p.Pro54Thr Missense 2/32 -
X-19553573-T-C SH3KBP1 c.*962A>G - 3-UTRSNV 18/18 -
X-19560222-G-C SH3KBP1 c.1713C>G p.Pro571Pro Synonymous 16/18 -
21-34042647-C-T SYNJ1 c.1879G>A p.Gly627Ser Missense 15/32 -
21-34037322-G-A SYNJ1 c.2322C>T p.Ile774Ile Synonymous 18/32 -
11-85742581-G-C PICALM c.203C>G p.Thr68Ser Missense 2/20 -
21-34003176-A-G SYNJ1 c.*129T>C - 3-UTRSNV 32/32 -
X-19606835-G-C SH3KBP1 c.1224C>G p.Thr408Thr Synonymous 12/18 -
21-34042665-T-C SYNJ1 c.1861A>G p.Thr621Ala Missense 15/32 -
21-34003865-T-C SYNJ1 c.4279A>G p.Asn1427Asp Missense 32/32 -
11-85714448-A-G PICALM c.854T>C p.Leu285Ser Missense 9/20 -
X-19606859-T-G SH3KBP1 c.1200A>C p.Pro400Pro Synonymous 12/18 -
11-85695012-G-T PICALM c.1413C>A p.Phe471Leu Missense 14/20 -
21-34022588-C-A SYNJ1 c.3060G>T p.Met1020Ile Missense 23/32 -
21-34002227-G-A SYNJ1 c.*1078C>T - 3-UTRSNV 32/32 -
21-34037313-A-G SYNJ1 c.2331T>C p.Pro777Pro Synonymous 18/32 -
21-34059359-A-G SYNJ1 c.994T>C p.Tyr332His Missense 8/32 -
11-85707933-C-T PICALM c.1194G>A p.Gln398Gln Synonymous 12/20 -
21-34003357-A-C SYNJ1 c.4787T>G p.Phe1596Cys Missense 32/32 -
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
X-19626051-C-T SH3KBP1 c.1005+5G>A - IntronicSNV - 9/17
21-34050982-C-T SYNJ1 c.1600G>A p.Ala534Thr Missense 12/32 -
21-34001914-A-G SYNJ1 c.*1391T>C - 3-UTRSNV 32/32 -
21-34017978-T-G SYNJ1 c.3486A>C p.Pro1162Pro Synonymous 25/32 -
21-34017978-T-C SYNJ1 c.3486A>G p.Pro1162Pro Synonymous 25/32 -
21-34058062-G-C SYNJ1 c.1231C>G p.Gln411Glu Missense 9/32 -
X-19854362-C-G SH3KBP1 c.43G>C p.Asp15His Missense 2/18 -
21-34067388-G-A SYNJ1 c.801C>T p.Ala267Ala Synonymous 5/32 -
21-34004016-C-T SYNJ1 c.4128G>A p.Lys1376Lys Synonymous 32/32 -
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 -
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 -
11-85685808-T-C PICALM c.1887A>G p.Ile629Met Missense 19/20 -
21-34003838-T-C SYNJ1 c.4306A>G p.Ile1436Val Missense 32/32 -
X-19560244-G-T SH3KBP1 c.1691C>A p.Ala564Asp Missense 16/18 -
21-34003858-C-T SYNJ1 c.4286G>A p.Arg1429Gln Missense 32/32 -
21-34003858-C-A SYNJ1 c.4286G>T p.Arg1429Leu Missense 32/32 -
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 -
11-85722172-A-G PICALM c.666T>C p.Tyr222Tyr Synonymous 7/20 -
11-85685821-T-C PICALM c.1874A>G p.Gln625Arg Missense 19/20 -
21-34003391-G-A SYNJ1 c.4753C>T p.Leu1585Phe Missense 32/32 -
X-19560124-C-T SH3KBP1 c.1811G>A p.Ser604Asn Missense 16/18 -
11-85779703-C-T PICALM c.120G>A p.Lys40Lys Synonymous 1/20 -
21-34072367-A-G SYNJ1 c.377T>C p.Val126Ala Missense 4/32 -
X-19764459-G-A SH3KBP1 c.263C>T p.Thr88Met Missense 3/18 -
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-19626155-G-A SH3KBP1 c.906C>T p.Ile302Ile Synonymous 9/18 -
X-19564141-C-T SH3KBP1 c.1522G>A p.Asp508Asn Missense 15/18 -
21-34002420-T-C SYNJ1 c.*885A>G - 3-UTRSNV 32/32 -
X-19587245-G-A SH3KBP1 c.1360C>T p.Leu454Phe Missense 13/18 -
21-34003744-G-T SYNJ1 c.4400C>A p.Ser1467* Nonsense 32/32 -
11-85670054-G-A PICALM c.*35C>T - 3-UTRSNV 20/20 -
X-19725093-C-T SH3KBP1 c.296G>A p.Arg99Gln Missense 4/18 -
21-34058050-A-G SYNJ1 c.1235+8T>C - IntronicSNV - 9/31
21-34029006-A-C SYNJ1 c.2903T>G p.Ile968Arg Missense 21/32 -
21-34029006-A-G SYNJ1 c.2903T>C p.Ile968Thr Missense 21/32 -
11-85687722-G-T PICALM c.1783C>A p.Pro595Thr Missense 18/20 -
X-19606776-G-A SH3KBP1 c.1283C>T p.Pro428Leu Missense 12/18 -
11-85742636-T-G PICALM c.148A>C p.Asn50His Missense 2/20 -
21-34003452-A-C SYNJ1 c.4692T>G p.Gly1564Gly Synonymous 32/32 -
21-34045820-C-T SYNJ1 c.1673G>A p.Ser558Asn Missense 14/32 -
21-34058075-A-C SYNJ1 c.1218T>G p.Asn406Lys Missense 9/32 -
21-34058075-A-G SYNJ1 c.1218T>C p.Asn406Asn Synonymous 9/32 -
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 -
21-34072193-G-A SYNJ1 c.551C>T p.Ala184Val Missense 4/32 -
11-85687719-G-C PICALM c.1786C>G p.Pro596Ala Missense 18/20 -
X-19552577-T-A SH3KBP1 c.*1958A>T - 3-UTRSNV 18/18 -
X-19606766-G-A SH3KBP1 c.1293C>T p.His431His Synonymous 12/18 -
21-34003744-G-A SYNJ1 c.4400C>T p.Ser1467Leu Missense 32/32 -
21-34045735-T-C SYNJ1 c.1758A>G p.Gln586Gln Synonymous 14/32 -
X-19587278-C-T SH3KBP1 c.1327G>A p.Gly443Ser Missense 13/18 -
11-85733496-T-C PICALM c.366A>G p.Thr122Thr Synonymous 4/20 -
11-85711726-G-A PICALM c.1114C>T p.Pro372Ser Missense 11/20 -
11-85692949-A-C PICALM c.1614T>G p.Asp538Glu Missense 15/20 -
X-19552215-T-C SH3KBP1 c.*2320A>G - 3-UTRSNV 18/18 -
21-34045775-C-T SYNJ1 c.1718G>A p.Arg573Gln Missense 14/32 -
21-34030091-C-G SYNJ1 c.2513G>C p.Cys838Ser Missense 19/32 -
11-85726014-G-A PICALM c.453-8C>T - IntronicSNV - 4/19
21-34011378-G-A SYNJ1 c.3872C>T p.Ser1291Phe Missense 31/32 -
21-34053877-T-C SYNJ1 c.1399A>G p.Met467Val Missense 11/32 -
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 -
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 -
21-34072313-G-A SYNJ1 c.431C>T p.Ser144Leu Missense 4/32 -
21-34029022-T-G SYNJ1 c.2887A>C p.Ser963Arg Missense 21/32 -
11-85725927-G-A PICALM c.532C>T p.Leu178Phe Missense 5/20 -
11-85737338-C-T PICALM c.345G>A p.Leu115Leu Synonymous 3/20 -
X-19817760-A-C SH3KBP1 c.162+36483T>G - IntronicSNV - 2/17
21-34045672-T-G SYNJ1 c.1821A>C p.Leu607Phe Missense 14/32 -
X-19764494-T-C SH3KBP1 c.228A>G p.Glu76Glu Synonymous 3/18 -
X-19564083-A-G SH3KBP1 c.1580T>C p.Val527Ala Missense 15/18 -
11-85779935-C-T PICALM c.1-113G>A - 5-UTRSNV 1/20 -
21-34045830-C-T SYNJ1 c.1663G>A p.Val555Ile Missense 14/32 -
21-34045830-C-A SYNJ1 c.1663G>T p.Val555Leu Missense 14/32 -
11-85707933-C-A PICALM c.1194G>T p.Gln398His Missense 12/20 -
X-19560294-T-G SH3KBP1 c.1641A>C p.Ala547Ala Synonymous 16/18 -
21-34058162-C-T SYNJ1 c.1131G>A p.Met377Ile Missense 9/32 -
21-34018780-G-A SYNJ1 c.3287C>T p.Ser1096Leu Missense 24/32 -
21-34002532-G-C SYNJ1 c.*773C>G - 3-UTRSNV 32/32 -
21-34002532-G-A SYNJ1 c.*773C>T - 3-UTRSNV 32/32 -
X-19587235-C-T SH3KBP1 c.1370G>A p.Arg457His Missense 13/18 -
21-34018741-C-T SYNJ1 c.3326G>A p.Arg1109Gln Missense 24/32 -
21-34012038-C-T SYNJ1 c.3757G>A p.Ala1253Thr Missense 30/32 -
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 -
11-85692813-C-T PICALM c.1654G>A p.Gly552Ser Missense 16/20 -
21-34018063-G-A SYNJ1 c.3401C>T p.Pro1134Leu Missense 25/32 -
21-34045821-T-C SYNJ1 c.1672A>G p.Ser558Gly Missense 14/32 -
21-34002240-C-T SYNJ1 c.*1065G>A - 3-UTRSNV 32/32 -
21-34029139-C-G SYNJ1 c.2770G>C p.Val924Leu Missense 21/32 -
11-85707966-T-C PICALM c.1161A>G p.Ser387Ser Synonymous 12/20 -
X-19854386-C-G SH3KBP1 c.19G>C p.Glu7Gln Missense 2/18 -
X-19626157-T-C SH3KBP1 c.904A>G p.Ile302Val Missense 9/18 -
11-85711727-T-G PICALM c.1113A>C p.Ala371Ala Synonymous 11/20 -
21-34067416-C-T SYNJ1 c.773G>A p.Arg258Gln Missense 5/32 -
21-34099187-A-T SYNJ1 c.137T>A p.Phe46Tyr Missense 2/32 -
21-34060664-C-T SYNJ1 c.920G>A p.Arg307His Missense 7/32 -
X-19701951-G-A SH3KBP1 c.716C>T p.Pro239Leu Missense 6/18 -
X-19554057-G-A SH3KBP1 c.*478C>T - 3-UTRSNV 18/18 -
11-85701387-A-G PICALM c.1314T>C p.Pro438Pro Synonymous 13/20 -
21-34015767-C-T SYNJ1 c.3548G>A p.Gly1183Asp Missense 27/32 -
X-19554526-A-T SH3KBP1 c.*9T>A - 3-UTRSNV 18/18 -
21-34003991-G-A SYNJ1 c.4153C>T p.Pro1385Ser Missense 32/32 -
11-85726013-T-C PICALM c.453-7A>G - IntronicSNV - 4/19
21-34042634-A-G SYNJ1 c.1892T>C p.Met631Thr Missense 15/32 -
21-34053961-T-A SYNJ1 c.1318-3A>T - IntronicSNV - 10/31
11-85701401-G-C PICALM c.1300C>G p.Pro434Ala Missense 13/20 -
11-85711721-G-A PICALM c.1119C>T p.Ala373Ala Synonymous 11/20 -
21-34029180-A-G SYNJ1 c.2729T>C p.Phe910Ser Missense 21/32 -
21-34029367-G-T SYNJ1 c.2642C>A p.Thr881Asn Missense 20/32 -
21-34018703-T-C SYNJ1 c.3364A>G p.Ser1122Gly Missense 24/32 -
X-19564048-T-C SH3KBP1 c.1615A>G p.Ile539Val Missense 15/18 -
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 -
21-34025674-A-G SYNJ1 c.2915T>C p.Phe972Ser Missense 22/32 -
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 -
21-34067458-G-A SYNJ1 c.731C>T p.Ser244Leu Missense 5/32 -
11-85711745-T-G PICALM c.1095A>C p.Ala365Ala Synonymous 11/20 -
X-19587279-G-T SH3KBP1 c.1326C>A p.Ala442Ala Synonymous 13/18 -
11-85779803-G-C PICALM c.20C>G p.Thr7Arg Missense 1/20 -
X-19713859-C-A SH3KBP1 c.391G>T p.Val131Leu Missense 5/18 -
11-85694954-A-T PICALM c.1471T>A p.Ser491Thr Missense 14/20 -
X-19560156-C-T SH3KBP1 c.1779G>A p.Thr593Thr Synonymous 16/18 -
11-85742630-T-C PICALM c.154A>G p.Met52Val Missense 2/20 -
21-34003618-T-A SYNJ1 c.4526A>T p.Gln1509Leu Missense 32/32 -
21-34029189-A-G SYNJ1 c.2720T>C p.Ile907Thr Missense 21/32 -
11-85733412-T-C PICALM c.450A>G p.Arg150Arg Synonymous 4/20 -
21-34002047-T-C SYNJ1 c.*1258A>G - 3-UTRSNV 32/32 -
X-19554520-T-G SH3KBP1 c.*15A>C - 3-UTRSNV 18/18 -
11-85692908-T-C PICALM c.1648+7A>G - IntronicSNV - 15/19
X-19606907-T-C SH3KBP1 c.1152A>G p.Arg384Arg Synonymous 12/18 -
21-34002054-T-C SYNJ1 c.*1251A>G - 3-UTRSNV 32/32 -
11-85779799-G-A PICALM c.24C>T p.Asp8Asp Synonymous 1/20 -
21-34003541-A-T SYNJ1 c.4603T>A p.Ser1535Thr Missense 32/32 -
21-34007199-G-A SYNJ1 c.4033-3088C>T - IntronicSNV - 31/31
21-34037358-G-A SYNJ1 c.2286C>T p.Asp762Asp Synonymous 18/32 -
21-34072284-G-A SYNJ1 c.460C>T p.Arg154Cys Missense 4/32 -
11-85669999-A-G PICALM c.*90T>C - 3-UTRSNV 20/20 -
11-85779715-C-T PICALM c.108G>A p.Gly36Gly Synonymous 1/20 -
21-34011387-G-C SYNJ1 c.3863C>G p.Pro1288Arg Missense 31/32 -
X-19650067-T-C SH3KBP1 c.812A>G p.Tyr271Cys Missense 8/18 -
11-85701412-T-C PICALM c.1289A>G p.Asp430Gly Missense 13/20 -
X-19905619-T-G SH3KBP1 c.1-191A>C - 5-UTRSNV 1/18 -
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 -
21-34001205-A-G SYNJ1 c.*2100T>C - 3-UTRSNV 32/32 -
11-85692916-G-A PICALM c.1647C>T p.Gly549Gly Synonymous 15/20 -
21-34014236-T-A SYNJ1 c.3675A>T p.Pro1225Pro Synonymous 29/32 -
21-34037310-G-A SYNJ1 c.2334C>T p.Asn778Asn Synonymous 18/32 -
21-34018016-G-T SYNJ1 c.3448C>A p.Pro1150Thr Missense 25/32 -
X-19564042-G-C SH3KBP1 c.1621C>G p.Gln541Glu Missense 15/18 -
X-19650052-A-T SH3KBP1 c.827T>A p.Phe276Tyr Missense 8/18 -
X-19560190-C-G SH3KBP1 c.1745G>C p.Gly582Ala Missense 16/18 -
21-34001263-A-T SYNJ1 c.*2042T>A - 3-UTRSNV 32/32 -
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 -
21-34018081-T-C SYNJ1 c.3383A>G p.Gln1128Arg Missense 25/32 -
X-19555843-G-A SH3KBP1 c.1948C>T p.Arg650Trp Missense 17/18 -
21-34002968-A-G SYNJ1 c.*337T>C - 3-UTRSNV 32/32 -
11-85712187-G-T PICALM c.908C>A p.Ser303Tyr Missense 10/20 -
21-34048638-G-T SYNJ1 c.1651+4C>A - IntronicSNV - 13/31
21-34003837-A-C SYNJ1 c.4307T>G p.Ile1436Ser Missense 32/32 -
X-19553946-G-A SH3KBP1 c.*589C>T - 3-UTRSNV 18/18 -
21-34025635-C-T SYNJ1 c.2954G>A p.Ser985Asn Missense 22/32 -
X-19701980-C-A SH3KBP1 c.687G>T p.Arg229Ser Missense 6/18 -
11-85712138-C-T PICALM c.957G>A p.Val319Val Synonymous 10/20 -
21-34003662-T-C SYNJ1 c.4482A>G p.Ser1494Ser Synonymous 32/32 -
11-85707861-A-G PICALM c.1258+8T>C - IntronicSNV - 12/19
21-34012043-G-T SYNJ1 c.3752C>A p.Ala1251Glu Missense 30/32 -
21-34011322-T-C SYNJ1 c.3928A>G p.Met1310Val Missense 31/32 -
21-34060658-C-T SYNJ1 c.926G>A p.Arg309His Missense 7/32 -
21-34045820-C-G SYNJ1 c.1673G>C p.Ser558Thr Missense 14/32 -
21-34003722-G-A SYNJ1 c.4422C>T p.Pro1474Pro Synonymous 32/32 -
21-34029101-C-T SYNJ1 c.2808G>A p.Leu936Leu Synonymous 21/32 -
21-34022594-T-C SYNJ1 c.3054A>G p.Glu1018Glu Synonymous 23/32 -
11-85737357-A-G PICALM c.326T>C p.Phe109Ser Missense 3/20 -
X-19552469-G-A SH3KBP1 c.*2066C>T - 3-UTRSNV 18/18 -
X-19560225-C-T SH3KBP1 c.1710G>A p.Ala570Ala Synonymous 16/18 -
11-85711805-T-C PICALM c.1035A>G p.Glu345Glu Synonymous 11/20 -
21-34003737-G-A SYNJ1 c.4407C>T p.Phe1469Phe Synonymous 32/32 -
21-34042669-C-A SYNJ1 c.1857G>T p.Lys619Asn Missense 15/32 -
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 -
11-85712197-T-C PICALM c.898A>G p.Thr300Ala Missense 10/20 -
21-34053813-T-C SYNJ1 c.1463A>G p.Lys488Arg Missense 11/32 -
21-34012043-G-C SYNJ1 c.3752C>G p.Ala1251Gly Missense 30/32 -
X-19606862-C-T SH3KBP1 c.1197G>A p.Pro399Pro Synonymous 12/18 -
21-34012056-G-A SYNJ1 c.3739C>T p.Pro1247Ser Missense 30/32 -
X-19663526-C-T SH3KBP1 c.794G>A p.Arg265Lys Missense 7/18 -
21-34072316-A-G SYNJ1 c.428T>C p.Ile143Thr Missense 4/32 -
11-85701412-T-A PICALM c.1289A>T p.Asp430Val Missense 13/20 -
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 -
21-34002744-T-G SYNJ1 c.*561A>C - 3-UTRSNV 32/32 -
21-34004111-C-T SYNJ1 c.4033G>A p.Val1345Ile Missense 32/32 -
21-34048673-T-C SYNJ1 c.1628-8A>G - IntronicSNV - 12/31
X-19854408-G-A SH3KBP1 c.5-8C>T - IntronicSNV - 1/17
X-19564032-T-G SH3KBP1 c.1623+8A>C - IntronicSNV - 15/17
11-85694987-G-A PICALM c.1438C>T p.His480Tyr Missense 14/20 -
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 -
21-34030180-A-G SYNJ1 c.2424T>C p.Val808Val Synonymous 19/32 -
21-34003383-G-C SYNJ1 c.4761C>G p.Pro1587Pro Synonymous 32/32 -
21-34015723-C-T SYNJ1 c.3592G>A p.Glu1198Lys Missense 27/32 -
21-34003383-G-T SYNJ1 c.4761C>A p.Pro1587Pro Synonymous 32/32 -
21-34004007-T-C SYNJ1 c.4137A>G p.Leu1379Leu Synonymous 32/32 -
21-34003239-T-A SYNJ1 c.*66A>T - 3-UTRSNV 32/32 -
11-85725937-C-T PICALM c.522G>A p.Gln174Gln Synonymous 5/20 -
X-19764496-C-G SH3KBP1 c.226G>C p.Glu76Gln Missense 3/18 -
21-34004016-C-G SYNJ1 c.4128G>C p.Lys1376Asn Missense 32/32 -
X-19725106-G-A SH3KBP1 c.287-4C>T - IntronicSNV - 3/17
21-34003300-T-A SYNJ1 c.*5A>T - 3-UTRSNV 32/32 -
11-85723389-A-G PICALM c.593T>C p.Met198Thr Missense 6/20 -
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 -
21-34003387-G-A SYNJ1 c.4757C>T p.Pro1586Leu Missense 32/32 -
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 -
11-85669982-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 -
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 -
X-19560216-G-T SH3KBP1 c.1719C>A 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 -
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 -
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 -
21-34059372-T-C SYNJ1 c.981A>G p.Thr327Thr Synonymous 8/32 -
X-19702102-T-C SH3KBP1 c.565A>G p.Ser189Gly Missense 6/18 -
11-85779709-C-G PICALM c.114G>C p.Lys38Asn Missense 1/20 -
21-34003300-T-C SYNJ1 c.*5A>G - 3-UTRSNV 32/32 -
11-85701447-G-C PICALM c.1259-5C>G - IntronicSNV - 12/19
21-34038342-C-T SYNJ1 c.2173G>A p.Val725Ile Missense 17/32 -
11-85692796-G-A PICALM c.1671C>T p.Thr557Thr Synonymous 16/20 -
21-34017293-T-C SYNJ1 c.3532A>G p.Arg1178Gly Missense 26/32 -
21-34099232-C-T SYNJ1 c.96-4G>A - IntronicSNV - 1/31
21-34014236-T-C SYNJ1 c.3675A>G p.Pro1225Pro Synonymous 29/32 -
21-34018049-C-T SYNJ1 c.3415G>A p.Ala1139Thr Missense 25/32 -
21-34003377-G-A SYNJ1 c.4767C>T p.Thr1589Thr Synonymous 32/32 -
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 -
X-19560216-G-C SH3KBP1 c.1719C>G p.Pro573Pro Synonymous 16/18 -
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-T SH3KBP1 c.1183G>A p.Val395Ile Missense 12/18 -
X-19606876-C-A SH3KBP1 c.1183G>T p.Val395Phe Missense 12/18 -
X-19554051-C-G SH3KBP1 c.*484G>C - 3-UTRSNV 18/18 -
21-34072165-A-T SYNJ1 c.579T>A p.Thr193Thr Synonymous 4/32 -
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 -
11-85742582-T-C PICALM c.202A>G p.Thr68Ala Missense 2/20 -
X-19555848-C-T SH3KBP1 c.1943G>A p.Arg648Gln Missense 17/18 -
11-85742582-T-A PICALM c.202A>T p.Thr68Ser Missense 2/20 -
11-85687678-T-C PICALM c.1827A>G p.Ile609Met Missense 18/20 -
21-34003594-G-C SYNJ1 c.4550C>G p.Pro1517Arg Missense 32/32 -
14-73664808-A-C PSEN1 c.839A>C p.Glu280Ala Missense 8/12 -
21-34003594-G-A SYNJ1 c.4550C>T p.Pro1517Leu 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 -
11-85722113-G-C PICALM c.725C>G p.Thr242Ser Missense 7/20 -
X-19560228-C-G SH3KBP1 c.1707G>C p.Ala569Ala Synonymous 16/18 -
21-34001853-G-A SYNJ1 c.*1452C>T - 3-UTRSNV 32/32 -
21-34003833-A-G SYNJ1 c.4311T>C p.Thr1437Thr Synonymous 32/32 -
21-34001874-T-C SYNJ1 c.*1431A>G - 3-UTRSNV 32/32 -
X-19560255-G-A SH3KBP1 c.1680C>T p.Gly560Gly Synonymous 16/18 -
21-34029425-C-A SYNJ1 c.2584G>T p.Asp862Tyr Missense 20/32 -
11-85723424-A-T PICALM c.558T>A p.Asn186Lys Missense 6/20 -
11-85733511-T-C PICALM c.351A>G p.Gly117Gly Synonymous 4/20 -
X-19564078-C-G SH3KBP1 c.1585G>C p.Ala529Pro Missense 15/18 -
11-85692977-T-C PICALM c.1586A>G p.Lys529Arg Missense 15/20 -
21-34099124-T-G SYNJ1 c.200A>C p.Glu67Ala Missense 2/32 -
11-85779871-G-A PICALM c.1-49C>T - 5-UTRSNV 1/20 -
X-19606784-C-T SH3KBP1 c.1275G>A p.Pro425Pro Synonymous 12/18 -
21-34099108-G-A SYNJ1 c.216C>T p.Phe72Phe Synonymous 2/32 -
21-34025623-T-A SYNJ1 c.2966A>T p.Asn989Ile Missense 22/32 -
21-34018827-G-A SYNJ1 c.3240C>T p.Ser1080Ser Synonymous 24/32 -
X-19564077-G-A SH3KBP1 c.1586C>T p.Ala529Val Missense 15/18 -
21-34003660-G-A SYNJ1 c.4484C>T p.Ser1495Phe Missense 32/32 -
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 -
X-19564076-C-T SH3KBP1 c.1587G>A p.Ala529Ala Synonymous 15/18 -
X-19724992-C-G SH3KBP1 c.390+7G>C - IntronicSNV - 4/17
21-34017979-G-C SYNJ1 c.3485C>G p.Pro1162Arg Missense 25/32 -
21-34003365-T-C SYNJ1 c.4779A>G p.Val1593Val Synonymous 32/32 -
11-85669914-C-T PICALM c.*175G>A - 3-UTRSNV 20/20 -
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 -
11-85670067-A-C PICALM c.*22T>G - 3-UTRSNV 20/20 -
21-34038870-T-G SYNJ1 c.1942A>C p.Lys648Gln Missense 16/32 -
11-85779761-G-A PICALM c.62C>T p.Ala21Val Missense 1/20 -
21-34038781-C-T SYNJ1 c.2031G>A p.Leu677Leu Synonymous 16/32 -
X-19560065-C-G SH3KBP1 c.1870G>C p.Glu624Gln Missense 16/18 -
X-19564127-G-C SH3KBP1 c.1536C>G p.Pro512Pro Synonymous 15/18 -
X-19564127-G-A SH3KBP1 c.1536C>T p.Pro512Pro Synonymous 15/18 -
X-19560065-C-T SH3KBP1 c.1870G>A p.Glu624Lys Missense 16/18 -
21-34072220-C-T SYNJ1 c.524G>A p.Gly175Asp Missense 4/32 -
21-34072220-C-A SYNJ1 c.524G>T p.Gly175Val Missense 4/32 -
21-34004010-C-A SYNJ1 c.4134G>T p.Gln1378His Missense 32/32 -
21-34004105-T-C SYNJ1 c.4039A>G p.Thr1347Ala Missense 32/32 -
11-85718579-A-G PICALM c.807+6T>C - IntronicSNV - 8/19
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 -
X-19560223-G-A SH3KBP1 c.1712C>T p.Pro571Leu Missense 16/18 -
21-34017988-G-T SYNJ1 c.3476C>A p.Pro1159Gln Missense 25/32 -
X-19564079-G-A SH3KBP1 c.1584C>T p.Asp528Asp Synonymous 15/18 -
21-34017988-G-A SYNJ1 c.3476C>T p.Pro1159Leu Missense 25/32 -
21-34029307-T-G SYNJ1 c.2696+6A>C - IntronicSNV - 20/31
21-34001515-G-T SYNJ1 c.*1790C>A - 3-UTRSNV 32/32 -
11-85669875-T-C PICALM c.*214A>G - 3-UTRSNV 20/20 -
21-34058099-T-G SYNJ1 c.1194A>C p.Leu398Leu Synonymous 9/32 -
X-19649995-G-C SH3KBP1 c.884C>G p.Thr295Ser Missense 8/18 -
11-85714439-T-C PICALM c.863A>G p.Lys288Arg Missense 9/20 -
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 -
11-85687682-A-G PICALM c.1823T>C p.Met608Thr Missense 18/20 -
21-34003880-T-G SYNJ1 c.4264A>C p.Ser1422Arg Missense 32/32 -
21-34100297-C-T SYNJ1 c.55G>A p.Gly19Ser Missense 1/32 -
X-19553368-C-T SH3KBP1 c.*1167G>A - 3-UTRSNV 18/18 -
21-34003348-A-G SYNJ1 c.4796T>C p.Leu1599Ser Missense 32/32 -
11-85707896-C-G PICALM c.1231G>C p.Ala411Pro Missense 12/20 -
21-34012045-G-A SYNJ1 c.3750C>T p.His1250His Synonymous 30/32 -
21-34011411-A-G SYNJ1 c.3839T>C p.Leu1280Pro Missense 31/32 -
21-34051056-C-G SYNJ1 c.1526G>C p.Ser509Thr Missense 12/32 -
21-34060633-A-G SYNJ1 c.951T>C p.Asn317Asn Synonymous 7/32 -
21-34001548-T-C SYNJ1 c.*1757A>G - 3-UTRSNV 32/32 -
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 -
21-34003931-C-T SYNJ1 c.4213G>A p.Val1405Ile Missense 32/32 -
11-85779870-T-A PICALM c.1-48A>T - 5-UTRSNV 1/20 -
21-34053840-T-C SYNJ1 c.1436A>G p.Tyr479Cys Missense 11/32 -
21-34022656-A-C SYNJ1 c.2992T>G p.Leu998Val Missense 23/32 -
21-34018890-A-T SYNJ1 c.3177T>A p.Ala1059Ala Synonymous 24/32 -
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 -
11-85711815-C-A PICALM c.1025G>T p.Arg342Leu Missense 11/20 -
21-34011221-C-A SYNJ1 c.4029G>T p.Pro1343Pro Synonymous 31/32 -
21-34003348-A-C SYNJ1 c.4796T>G p.Leu1599Trp Missense 32/32 -
21-34058131-T-C SYNJ1 c.1162A>G p.Ser388Gly Missense 9/32 -
11-85701379-G-A PICALM c.1322C>T p.Thr441Ile Missense 13/20 -
21-34072301-T-C SYNJ1 c.443A>G p.Asp148Gly Missense 4/32 -
X-19568096-G-A SH3KBP1 c.1490C>T p.Thr497Ile Missense 14/18 -
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 -
11-85723425-T-C PICALM c.557A>G p.Asn186Ser Missense 6/20 -
21-34030114-G-A SYNJ1 c.2490C>T p.Asp830Asp Synonymous 19/32 -
11-85701330-A-G PICALM c.1371T>C p.Thr457Thr Synonymous 13/20 -
21-34059326-A-G SYNJ1 c.1027T>C p.Ser343Pro Missense 8/32 -
X-19553163-C-T SH3KBP1 c.*1372G>A - 3-UTRSNV 18/18 -
21-34059331-A-T SYNJ1 c.1022T>A p.Leu341His Missense 8/32 -
21-34072222-A-T SYNJ1 c.522T>A p.Ser174Ser Synonymous 4/32 -
21-34072222-A-G SYNJ1 c.522T>C p.Ser174Ser Synonymous 4/32 -
21-34038317-T-C SYNJ1 c.2198A>G p.Gln733Arg Missense 17/32 -
11-85712153-T-C PICALM c.942A>G p.Leu314Leu Synonymous 10/20 -
11-85712153-T-A PICALM c.942A>T p.Leu314Leu Synonymous 10/20 -
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 -
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 -
21-34003314-T-C SYNJ1 c.4830A>G p.Thr1610Thr Synonymous 32/32 -
X-19626124-C-T SH3KBP1 c.937G>A p.Gly313Ser Missense 9/18 -
X-19554486-T-G SH3KBP1 c.*49A>C - 3-UTRSNV 18/18 -
21-34018735-G-T SYNJ1 c.3332C>A p.Pro1111Gln Missense 24/32 -
21-34003881-C-T SYNJ1 c.4263G>A p.Arg1421Arg Synonymous 32/32 -
11-85693015-T-C PICALM c.1548A>G p.Pro516Pro Synonymous 15/20 -
21-34017305-G-A SYNJ1 c.3520C>T p.Pro1174Ser Missense 26/32 -
21-34072307-C-T SYNJ1 c.437G>A p.Arg146Gln Missense 4/32 -
11-85694994-T-G PICALM c.1431A>C p.Ala477Ala Synonymous 14/20 -
21-34100272-C-T SYNJ1 c.80G>A p.Arg27Lys Missense 1/32 -
21-34002380-G-T SYNJ1 c.*925C>A - 3-UTRSNV 32/32 -
11-85692210-T-C PICALM c.1741A>G p.Lys581Glu Missense 17/20 -
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 -
21-34014252-G-C SYNJ1 c.3659C>G p.Ala1220Gly Missense 29/32 -
X-19554515-A-G SH3KBP1 c.*20T>C - 3-UTRSNV 18/18 -
21-34003646-A-G SYNJ1 c.4498T>C p.Phe1500Leu Missense 32/32 -
11-85692966-T-A PICALM c.1597A>T p.Ser533Cys Missense 15/20 -
21-34022539-G-A SYNJ1 c.3109C>T p.Leu1037Leu Synonymous 23/32 -
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 -
11-85779865-G-A PICALM c.1-43C>T - 5-UTRSNV 1/20 -
21-34038809-G-A SYNJ1 c.2003C>T p.Ala668Val Missense 16/32 -
11-85707932-G-A PICALM c.1195C>T p.Pro399Ser Missense 12/20 -
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
21-34038808-A-G SYNJ1 c.2004T>C p.Ala668Ala Synonymous 16/32 -
X-19560157-G-A SH3KBP1 c.1778C>T p.Thr593Met Missense 16/18 -
11-85723397-A-G PICALM c.585T>C p.Ala195Ala Synonymous 6/20 -
11-85725944-T-C PICALM c.515A>G p.Gln172Arg Missense 5/20 -
21-34003892-T-C SYNJ1 c.4252A>G p.Ile1418Val Missense 32/32 -
11-85687692-G-A PICALM c.1813C>T p.Pro605Ser Missense 18/20 -
21-34053817-C-T SYNJ1 c.1459G>A p.Gly487Arg Missense 11/32 -
X-19701998-T-C SH3KBP1 c.669A>G p.Pro223Pro Synonymous 6/18 -
11-85712114-T-A PICALM c.981A>T p.Ala327Ala Synonymous 10/20 -
11-85695016-C-G PICALM c.1409G>C p.Gly470Ala Missense 14/20 -
11-85779721-G-C PICALM c.102C>G p.Ile34Met Missense 1/20 -
21-34004018-T-C SYNJ1 c.4126A>G p.Lys1376Glu Missense 32/32 -
11-85669999-A-C PICALM c.*90T>G - 3-UTRSNV 20/20 -
21-34011306-G-A SYNJ1 c.3944C>T p.Pro1315Leu Missense 31/32 -
21-34003786-C-T SYNJ1 c.4358G>A p.Gly1453Glu Missense 32/32 -
21-34099076-G-A SYNJ1 c.241+7C>T - IntronicSNV - 2/31
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 -
21-34038308-A-G SYNJ1 c.2207T>C p.Val736Ala Missense 17/32 -
21-34030084-G-A SYNJ1 c.2520C>T p.Thr840Thr Synonymous 19/32 -
21-34029348-G-A SYNJ1 c.2661C>T p.His887His Synonymous 20/32 -
21-34011380-A-C SYNJ1 c.3870T>G p.Ser1290Ser Synonymous 31/32 -
21-34059354-A-G SYNJ1 c.999T>C p.Gly333Gly Synonymous 8/32 -
21-34038254-A-T SYNJ1 c.2261T>A p.Met754Lys Missense 17/32 -
21-34100293-C-T SYNJ1 c.59G>A p.Gly20Asp Missense 1/32 -
21-34029072-T-C SYNJ1 c.2837A>G p.Asn946Ser Missense 21/32 -
X-19568199-A-T SH3KBP1 c.1387T>A p.Leu463Ile Missense 14/18 -
21-34067471-C-T SYNJ1 c.718G>A p.Ala240Thr Missense 5/32 -
21-34003928-A-AGTATTA SYNJ1 c.4216_4217insAATACT p.Leu1406*fs*1 Nonsense 32/32 -
X-19553052-G-A SH3KBP1 c.*1483C>T - 3-UTRSNV 18/18 -
11-85779796-T-C PICALM c.27A>G p.Arg9Arg Synonymous 1/20 -
11-85779921-C-A PICALM c.1-99G>T - 5-UTRSNV 1/20 -
21-34001748-T-C SYNJ1 c.*1557A>G - 3-UTRSNV 32/32 -
21-34002383-C-T SYNJ1 c.*922G>A - 3-UTRSNV 32/32 -
X-19568199-A-G SH3KBP1 c.1387T>C p.Leu463Leu Synonymous 14/18 -
11-85725906-A-C PICALM c.546+7T>G - IntronicSNV - 5/19
21-34045780-T-C SYNJ1 c.1713A>G p.Lys571Lys Synonymous 14/32 -
11-85737377-C-T PICALM c.306G>A p.Thr102Thr Synonymous 3/20 -
11-85711800-G-T PICALM c.1040C>A p.Ala347Glu Missense 11/20 -
11-85692964-G-C PICALM c.1599C>G p.Ser533Arg Missense 15/20 -
X-19568098-G-A SH3KBP1 c.1488C>T p.Leu496Leu Synonymous 14/18 -
21-34060659-G-A SYNJ1 c.925C>T p.Arg309Cys Missense 7/32 -
21-34029394-T-C SYNJ1 c.2615A>G p.Asp872Gly Missense 20/32 -
21-34072368-C-A SYNJ1 c.376G>T p.Val126Phe Missense 4/32 -
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 -
X-19606801-T-C SH3KBP1 c.1258A>G p.Arg420Gly Missense 12/18 -
21-34018756-G-C SYNJ1 c.3311C>G p.Pro1104Arg Missense 24/32 -
21-34018756-G-A SYNJ1 c.3311C>T p.Pro1104Leu Missense 24/32 -
21-34018756-G-T SYNJ1 c.3311C>A p.Pro1104His Missense 24/32 -
11-85711725-G-A PICALM c.1115C>T p.Pro372Leu Missense 11/20 -
21-34011249-C-T SYNJ1 c.4001G>A p.Ser1334Asn Missense 31/32 -
21-34017948-G-A SYNJ1 c.3508+8C>T - IntronicSNV - 25/31
11-85723343-T-C PICALM c.639A>G p.Glu213Glu Synonymous 6/20 -
X-19725047-G-A SH3KBP1 c.342C>T p.Asp114Asp Synonymous 4/18 -
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 -
X-19560248-G-A SH3KBP1 c.1687C>T p.Pro563Ser Missense 16/18 -
11-85726013-T-A PICALM c.453-7A>T - IntronicSNV - 4/19
X-19626131-C-T SH3KBP1 c.930G>A p.Glu310Glu Synonymous 9/18 -
21-34066568-A-C SYNJ1 c.876T>G p.Val292Val Synonymous 6/32 -
X-19649997-G-A SH3KBP1 c.882C>T p.Val294Val Synonymous 8/18 -
21-34053910-A-G SYNJ1 c.1366T>C p.Leu456Leu Synonymous 11/32 -
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 -
21-34072234-T-C SYNJ1 c.510A>G p.Ala170Ala Synonymous 4/32 -
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 -
11-85722174-A-G PICALM c.664T>C p.Tyr222His Missense 7/20 -
21-34072172-T-C SYNJ1 c.572A>G p.Gln191Arg Missense 4/32 -
11-85733439-A-C PICALM c.423T>G p.Val141Val Synonymous 4/20 -
21-34003806-A-C SYNJ1 c.4338T>G p.Ser1446Arg Missense 32/32 -
X-19560110-C-T SH3KBP1 c.1825G>A p.Val609Met Missense 16/18 -
21-34072268-C-T SYNJ1 c.476G>A p.Arg159Gln Missense 4/32 -
21-34011363-G-T SYNJ1 c.3887C>A p.Ala1296Asp Missense 31/32 -
11-85711817-C-A PICALM c.1023G>T p.Gln341His Missense 11/20 -
21-34003489-C-T SYNJ1 c.4655G>A p.Gly1552Asp Missense 32/32 -
X-19626151-C-T SH3KBP1 c.910G>A p.Val304Ile Missense 9/18 -
X-19552337-T-C SH3KBP1 c.*2198A>G - 3-UTRSNV 18/18 -
21-34018870-G-A SYNJ1 c.3197C>T p.Pro1066Leu Missense 24/32 -
21-34017977-G-C SYNJ1 c.3487C>G p.Gln1163Glu Missense 25/32 -
21-34072374-T-A SYNJ1 c.370A>T p.Met124Leu Missense 4/32 -
11-85687692-G-C PICALM c.1813C>G p.Pro605Ala Missense 18/20 -
21-34003941-C-T SYNJ1 c.4203G>A p.Thr1401Thr Synonymous 32/32 -
21-34003539-T-G SYNJ1 c.4605A>C p.Ser1535Ser Synonymous 32/32 -
21-34100254-C-A SYNJ1 c.95+3G>T - IntronicSNV - 1/31
11-85694992-T-C PICALM c.1433A>G p.Gln478Arg Missense 14/20 -
X-19702124-G-A SH3KBP1 c.543C>T p.Ser181Ser Synonymous 6/18 -
21-34058051-G-A SYNJ1 c.1235+7C>T - IntronicSNV - 9/31
11-85779833-C-A PICALM c.1-11G>T - 5-UTRSNV 1/20 -
21-34022518-C-T SYNJ1 c.3130G>A p.Val1044Ile Missense 23/32 -
21-34074307-C-T SYNJ1 c.292G>A p.Ala98Thr Missense 3/32 -
21-34002586-A-G SYNJ1 c.*719T>C - 3-UTRSNV 32/32 -
21-34066629-A-G SYNJ1 c.823-8T>C - IntronicSNV - 5/31
X-19613113-G-A SH3KBP1 c.1011C>T p.Pro337Pro Synonymous 10/18 -
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 -
21-34051101-C-T SYNJ1 c.1481G>A p.Gly494Asp Missense 12/32 -
21-34011391-G-A SYNJ1 c.3859C>T p.Pro1287Ser Missense 31/32 -
11-85670019-T-C PICALM c.*70A>G - 3-UTRSNV 20/20 -
11-85701370-C-G PICALM c.1331G>C p.Ser444Thr Missense 13/20 -
X-19568182-G-A SH3KBP1 c.1404C>T p.Ser468Ser Synonymous 14/18 -