SYNJ1 synaptojanin 1

Canonical transcript: NM_003895

1052 unique variant annotations were identified in 74 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
21-34001107-C-T c.*2198G>A - 3-UTRSNV 32/32 - 1
21-34001205-A-G c.*2100T>C - 3-UTRSNV 32/32 - 1
21-34001242-G-GG c.*2063dup - 3-UTRInsertion 32/32 - 1
21-34001244-A-G c.*2061T>C - 3-UTRSNV 32/32 - 1
21-34001263-A-T c.*2042T>A - 3-UTRSNV 32/32 - 1
21-34001274-C-A c.*2031G>T - 3-UTRSNV 32/32 - 1
21-34001316-T-C c.*1989A>G - 3-UTRSNV 32/32 - 1
21-34001355-T-C c.*1950A>G - 3-UTRSNV 32/32 - 1
21-34001361-T-G c.*1944A>C - 3-UTRSNV 32/32 - 1
21-34001430-T-C c.*1875A>G - 3-UTRSNV 32/32 - 1
21-34001474-C-T c.*1831G>A - 3-UTRSNV 32/32 - 1
21-34001496-G-A c.*1809C>T - 3-UTRSNV 32/32 - 2
21-34001515-G-T c.*1790C>A - 3-UTRSNV 32/32 - 1
21-34001548-T-C c.*1757A>G - 3-UTRSNV 32/32 - 1
21-34001565-T-C c.*1740A>G - 3-UTRSNV 32/32 - 1
21-34001585-C-G c.*1720G>C - 3-UTRSNV 32/32 - 1
21-34001625-C-T c.*1680G>A - 3-UTRSNV 32/32 - 1
21-34001627-G-A c.*1678C>T - 3-UTRSNV 32/32 - 1
21-34001638-C-A c.*1667G>T - 3-UTRSNV 32/32 - 1
21-34001638-C-T c.*1667G>A - 3-UTRSNV 32/32 - 1
21-34001639-G-A c.*1666C>T - 3-UTRSNV 32/32 - 1
21-34001670-A-T c.*1635T>A - 3-UTRSNV 32/32 - 1
21-34001697-T-C c.*1608A>G - 3-UTRSNV 32/32 - 1
21-34001713-T-C c.*1592A>G - 3-UTRSNV 32/32 - 1
21-34001748-T-C c.*1557A>G - 3-UTRSNV 32/32 - 1
21-34001750-G-A c.*1555C>T - 3-UTRSNV 32/32 - 1
21-34001768-A-G c.*1537T>C - 3-UTRSNV 32/32 - 1
21-34001776-G-C c.*1529C>G - 3-UTRSNV 32/32 - 1
21-34001808-A-G c.*1497T>C - 3-UTRSNV 32/32 - 1
21-34001813-T-C c.*1492A>G - 3-UTRSNV 32/32 - 1
21-34001824-T-C c.*1481A>G - 3-UTRSNV 32/32 - 2
21-34001852-C-T c.*1453G>A - 3-UTRSNV 32/32 - 1
21-34001853-G-A c.*1452C>T - 3-UTRSNV 32/32 - 1
21-34001874-T-C c.*1431A>G - 3-UTRSNV 32/32 - 1
21-34001913-G-A c.*1392C>T - 3-UTRSNV 32/32 - 1
21-34001914-A-G c.*1391T>C - 3-UTRSNV 32/32 - 1
21-34001981-G-A c.*1324C>T - 3-UTRSNV 32/32 - 1
21-34002004-T-A c.*1301A>T - 3-UTRSNV 32/32 - 1
21-34002029-G-A c.*1276C>T - 3-UTRSNV 32/32 - 1
21-34002029-G-C c.*1276C>G - 3-UTRSNV 32/32 - 1
21-34002041-T-C c.*1264A>G - 3-UTRSNV 32/32 - 1
21-34002047-T-C c.*1258A>G - 3-UTRSNV 32/32 - 1
21-34002049-C-A c.*1256G>T - 3-UTRSNV 32/32 - 1
21-34002054-T-C c.*1251A>G - 3-UTRSNV 32/32 - 1
21-34002060-C-T c.*1245G>A - 3-UTRSNV 32/32 - 1
21-34002069-A-G c.*1236T>C - 3-UTRSNV 32/32 - 1
21-34002114-G-A c.*1191C>T - 3-UTRSNV 32/32 - 1
21-34002138-T-G c.*1167A>C - 3-UTRSNV 32/32 - 1
21-34002154-C-T c.*1151G>A - 3-UTRSNV 32/32 - 1
21-34002155-G-A c.*1150C>T - 3-UTRSNV 32/32 - 2
21-34002165-T-C c.*1140A>G - 3-UTRSNV 32/32 - 1
21-34002212-G-C c.*1093C>G - 3-UTRSNV 32/32 - 1
21-34002213-T-C c.*1092A>G - 3-UTRSNV 32/32 - 1
21-34002220-G-C c.*1085C>G - 3-UTRSNV 32/32 - 1
21-34002226-G-A c.*1079C>T - 3-UTRSNV 32/32 - 1
21-34002226-G-C c.*1079C>G - 3-UTRSNV 32/32 - 1
21-34002226-G-T c.*1079C>A - 3-UTRSNV 32/32 - 1
21-34002227-G-A c.*1078C>T - 3-UTRSNV 32/32 - 1
21-34002227-G-C c.*1078C>G - 3-UTRSNV 32/32 - 1
21-34002233-G-A c.*1072C>T - 3-UTRSNV 32/32 - 1
21-34002240-C-T c.*1065G>A - 3-UTRSNV 32/32 - 1
21-34002274-G-A c.*1031C>T - 3-UTRSNV 32/32 - 1
21-34002358-T-G c.*947A>C - 3-UTRSNV 32/32 - 1
21-34002359-C-G c.*946G>C - 3-UTRSNV 32/32 - 1
21-34002359-C-T c.*946G>A - 3-UTRSNV 32/32 - 1
21-34002365-T-C c.*940A>G - 3-UTRSNV 32/32 - 1
21-34002367-C-T c.*938G>A - 3-UTRSNV 32/32 - 1
21-34002378-G-A c.*927C>T - 3-UTRSNV 32/32 - 1
21-34002380-G-T c.*925C>A - 3-UTRSNV 32/32 - 1
21-34002383-C-T c.*922G>A - 3-UTRSNV 32/32 - 1
21-34002386-T-C c.*919A>G - 3-UTRSNV 32/32 - 1
21-34002420-T-C c.*885A>G - 3-UTRSNV 32/32 - 1
21-34002426-T-C c.*879A>G - 3-UTRSNV 32/32 - 1
21-34002437-T-C c.*868A>G - 3-UTRSNV 32/32 - 1
21-34002476-T-C c.*829A>G - 3-UTRSNV 32/32 - 1
21-34002518-A-G c.*787T>C - 3-UTRSNV 32/32 - 1
21-34002523-C-G c.*782G>C - 3-UTRSNV 32/32 - 1
21-34002532-G-A c.*773C>T - 3-UTRSNV 32/32 - 1
21-34002532-G-C c.*773C>G - 3-UTRSNV 32/32 - 1
21-34002586-A-G c.*719T>C - 3-UTRSNV 32/32 - 1
21-34002592-T-C c.*713A>G - 3-UTRSNV 32/32 - 1
21-34002592-T-G c.*713A>C - 3-UTRSNV 32/32 - 1
21-34002605-G-A c.*700C>T - 3-UTRSNV 32/32 - 1
21-34002611-A-C c.*694T>G - 3-UTRSNV 32/32 - 1
21-34002669-C-T c.*636G>A - 3-UTRSNV 32/32 - 1
21-34002688-T-C c.*617A>G - 3-UTRSNV 32/32 - 1
21-34002700-T-A c.*605A>T - 3-UTRSNV 32/32 - 1
21-34002700-T-C c.*605A>G - 3-UTRSNV 32/32 - 1
21-34002744-T-G c.*561A>C - 3-UTRSNV 32/32 - 1
21-34002968-A-G c.*337T>C - 3-UTRSNV 32/32 - 1
21-34002983-G-A c.*322C>T - 3-UTRSNV 32/32 - 1
21-34003044-A-G c.*261T>C - 3-UTRSNV 32/32 - 1
21-34003073-G-T c.*232C>A - 3-UTRSNV 32/32 - 1
21-34003102-C-A c.*203G>T - 3-UTRSNV 32/32 - 1
21-34003176-A-G c.*129T>C - 3-UTRSNV 32/32 - 1
21-34003179-A-T c.*126T>A - 3-UTRSNV 32/32 - 1
21-34003210-A-AAA c.*95_*96insTT - 3-UTRInsertion 32/32 - 1
21-34003239-T-A c.*66A>T - 3-UTRSNV 32/32 - 1
21-34003249-T-A c.*56A>T - 3-UTRSNV 32/32 - 1
21-34003255-T-G c.*50A>C - 3-UTRSNV 32/32 - 1
21-34003261-T-C c.*44A>G - 3-UTRSNV 32/32 - 1
21-34003261-T-G c.*44A>C - 3-UTRSNV 32/32 - 1
21-34003274-G-C c.*31C>G - 3-UTRSNV 32/32 - 1
21-34003274-G-T c.*31C>A - 3-UTRSNV 32/32 - 1
21-34003280-A-G c.*25T>C - 3-UTRSNV 32/32 - 1
21-34003289-T-C c.*16A>G - 3-UTRSNV 32/32 - 1
21-34003297-G-A c.*8C>T - 3-UTRSNV 32/32 - 1
21-34003298-C-A c.*7G>T - 3-UTRSNV 32/32 - 1
21-34003300-T-A c.*5A>T - 3-UTRSNV 32/32 - 1
21-34003300-T-C c.*5A>G - 3-UTRSNV 32/32 - 1
21-34003301-G-T c.*4C>A - 3-UTRSNV 32/32 - 1
21-34003303-C-T c.*2G>A - 3-UTRSNV 32/32 - 1
21-34003304-G-A c.*1C>T - 3-UTRSNV 32/32 - 1
21-34003309-C-G c.4835G>C p.Arg1612Thr Missense 32/32 - 1
21-34003309-C-T c.4835G>A p.Arg1612Lys Missense 32/32 - 1
21-34003314-T-C c.4830A>G p.Thr1610Thr Synonymous 32/32 - 1
21-34003322-C-A c.4822G>T p.Asp1608Tyr Missense 32/32 - 1
21-34003331-G-A c.4813C>T p.Pro1605Ser Missense 32/32 - 1
21-34003331-G-T c.4813C>A p.Pro1605Thr Missense 32/32 - 1
21-34003341-A-AA c.4803dup p.Lys1602* Nonsense 32/32 - 1
21-34003346-C-T c.4798G>A p.Ala1600Thr Missense 32/32 - 1
21-34003348-A-C c.4796T>G p.Leu1599Trp Missense 32/32 - 1
21-34003348-A-G c.4796T>C p.Leu1599Ser Missense 32/32 - 1
21-34003352-T-C c.4792A>G p.Thr1598Ala Missense 32/32 - 1
21-34003353-C-T c.4791G>A p.Thr1597Thr Synonymous 32/32 - 1
21-34003354-G-A c.4790C>T p.Thr1597Met Missense 32/32 - 1
21-34003356-G-A c.4788C>T p.Phe1596Phe Synonymous 32/32 - 1
21-34003357-A-C c.4787T>G p.Phe1596Cys Missense 32/32 - 1
21-34003365-T-C c.4779A>G p.Val1593Val Synonymous 32/32 - 1
21-34003375-C-T c.4769G>A p.Ser1590Asn Missense 32/32 - 1
21-34003377-G-A c.4767C>T p.Thr1589Thr Synonymous 32/32 - 1
21-34003377-G-C c.4767C>G p.Thr1589Thr Synonymous 32/32 - 1
21-34003378-G-C c.4766C>G p.Thr1589Ser Missense 32/32 - 1
21-34003382-C-T c.4762G>A p.Gly1588Ser Missense 32/32 - 1
21-34003383-G-A c.4761C>T p.Pro1587Pro Synonymous 32/32 - 1
21-34003383-G-C c.4761C>G p.Pro1587Pro Synonymous 32/32 - 1
21-34003383-G-T c.4761C>A p.Pro1587Pro Synonymous 32/32 - 1
21-34003386-C-T c.4758G>A p.Pro1586Pro Synonymous 32/32 - 1
21-34003387-G-A c.4757C>T p.Pro1586Leu Missense 32/32 - 1
21-34003391-G-A c.4753C>T p.Leu1585Phe Missense 32/32 - 1
21-34003394-G-A c.4750C>T p.Leu1584Leu Synonymous 32/32 - 1
21-34003396-G-A c.4748C>T p.Pro1583Leu Missense 32/32 - 1
21-34003405-G-A c.4739C>T p.Pro1580Leu Missense 32/32 - 1
21-34003411-G-A c.4733C>T p.Pro1578Leu Missense 32/32 - 1
21-34003411-G-C c.4733C>G p.Pro1578Arg Missense 32/32 - 1
21-34003412-G-A c.4732C>T p.Pro1578Ser Missense 32/32 - 1
21-34003414-G-T c.4730C>A p.Pro1577His Missense 32/32 - 1
21-34003425-C-T c.4719G>A p.Pro1573Pro Synonymous 32/32 - 1
21-34003426-G-A c.4718C>T p.Pro1573Leu Missense 32/32 - 1
21-34003434-A-G c.4710T>C p.Cys1570Cys Synonymous 32/32 - 1
21-34003437-G-A c.4707C>T p.Phe1569Phe Synonymous 32/32 - 1
21-34003437-G-C c.4707C>G p.Phe1569Leu Missense 32/32 - 1
21-34003449-T-C c.4695A>G p.Thr1565Thr Synonymous 32/32 - 1
21-34003450-G-C c.4694C>G p.Thr1565Arg Missense 32/32 - 1
21-34003452-A-C c.4692T>G p.Gly1564Gly Synonymous 32/32 - 1
21-34003454-C-T c.4690G>A p.Gly1564Ser Missense 32/32 - 1
21-34003457-T-C c.4687A>G p.Lys1563Glu Missense 32/32 - 1
21-34003476-T-C c.4668A>G p.Thr1556Thr Synonymous 32/32 - 1
21-34003477-G-A c.4667C>T p.Thr1556Ile Missense 32/32 - 1
21-34003489-C-T c.4655G>A p.Gly1552Asp Missense 32/32 - 1
21-34003497-T-C c.4647A>G p.Ser1549Ser Synonymous 32/32 - 1
21-34003502-T-C c.4642A>G p.Ser1548Gly Missense 32/32 - 1
21-34003502-T-G c.4642A>C p.Ser1548Arg Missense 32/32 - 1
21-34003504-G-A c.4640C>T p.Pro1547Leu Missense 32/32 - 1
21-34003511-T-C c.4633A>G p.Asn1545Asp Missense 32/32 - 1
21-34003511-T-G c.4633A>C p.Asn1545His Missense 32/32 - 1
21-34003513-C-A c.4631G>T p.Gly1544Val Missense 32/32 - 1
21-34003513-C-T c.4631G>A p.Gly1544Asp Missense 32/32 - 1
21-34003517-G-A c.4627C>T p.Leu1543Leu Synonymous 32/32 - 1
21-34003517-G-T c.4627C>A p.Leu1543Met Missense 32/32 - 1
21-34003521-G-C c.4623C>G p.Asp1541Glu Missense 32/32 - 1
21-34003521-G-T c.4623C>A p.Asp1541Glu Missense 32/32 - 1
21-34003532-C-A c.4612G>T p.Ala1538Ser Missense 32/32 - 1
21-34003532-C-G c.4612G>C p.Ala1538Pro Missense 32/32 - 1
21-34003539-T-C c.4605A>G p.Ser1535Ser Synonymous 32/32 - 1
21-34003539-T-G c.4605A>C p.Ser1535Ser Synonymous 32/32 - 1
21-34003540-G-C c.4604C>G p.Ser1535* Nonsense 32/32 - 1
21-34003541-A-C c.4603T>G p.Ser1535Ala Missense 32/32 - 1
21-34003541-A-T c.4603T>A p.Ser1535Thr Missense 32/32 - 1
21-34003542-C-T c.4602G>A p.Lys1534Lys Synonymous 32/32 - 1
21-34003556-C-T c.4588G>A p.Gly1530Ser Missense 32/32 - 1
21-34003561-T-A c.4583A>T p.Asp1528Val Missense 32/32 - 1
21-34003562-C-T c.4582G>A p.Asp1528Asn Missense 32/32 - 1
21-34003563-C-T c.4581G>A p.Glu1527Glu Synonymous 32/32 - 1
21-34003574-C-T c.4570G>A p.Glu1524Lys Missense 32/32 - 1
21-34003575-G-A c.4569C>T p.Phe1523Phe Synonymous 32/32 - 1
21-34003585-C-T c.4559G>A p.Trp1520* Nonsense 32/32 - 1
21-34003593-C-T c.4551G>A p.Pro1517Pro Synonymous 32/32 - 1
21-34003594-G-A c.4550C>T p.Pro1517Leu Missense 32/32 - 1
21-34003594-G-C c.4550C>G p.Pro1517Arg Missense 32/32 - 1
21-34003602-A-G c.4542T>C p.Ile1514Ile Synonymous 32/32 - 1
21-34003611-T-A c.4533A>T p.Thr1511Thr Synonymous 32/32 - 1
21-34003611-T-C c.4533A>G p.Thr1511Thr Synonymous 32/32 - 1
21-34003614-A-G c.4530T>C p.Ser1510Ser Synonymous 32/32 - 1
21-34003617-C-T c.4527G>A p.Gln1509Gln Synonymous 32/32 - 1
21-34003618-T-A c.4526A>T p.Gln1509Leu Missense 32/32 - 1
21-34003619-G-A c.4525C>T p.Gln1509* Nonsense 32/32 - 1
21-34003624-T-G c.4520A>C p.Gln1507Pro Missense 32/32 - 1
21-34003625-G-A c.4519C>T p.Gln1507* Nonsense 32/32 - 1
21-34003630-T-A c.4514A>T p.Asp1505Val Missense 32/32 - 1
21-34003631-C-G c.4513G>C p.Asp1505His Missense 32/32 - 1
21-34003631-C-T c.4513G>A p.Asp1505Asn Missense 32/32 - 1
21-34003634-A-G c.4510T>C p.Phe1504Leu Missense 32/32 - 1
21-34003641-C-T c.4503G>A p.Lys1501Lys Synonymous 32/32 - 1
21-34003646-A-G c.4498T>C p.Phe1500Leu Missense 32/32 - 1
21-34003648-C-T c.4496G>A p.Gly1499Asp Missense 32/32 - 1
21-34003651-T-C c.4493A>G p.Asp1498Gly Missense 32/32 - 1
21-34003654-A-G c.4490T>C p.Leu1497Pro Missense 32/32 - 1
21-34003655-G-A c.4489C>T p.Leu1497Phe Missense 32/32 - 1
21-34003660-G-A c.4484C>T p.Ser1495Phe Missense 32/32 - 1
21-34003662-T-C c.4482A>G p.Ser1494Ser Synonymous 32/32 - 1
21-34003665-A-G c.4479T>C p.Ala1493Ala Synonymous 32/32 - 1
21-34003666-G-T c.4478C>A p.Ala1493Asp Missense 32/32 - 1
21-34003672-C-T c.4472G>A p.Ser1491Asn Missense 32/32 - 1
21-34003690-G-A c.4454C>T p.Pro1485Leu Missense 32/32 - 1
21-34003704-G-A c.4440C>T p.Phe1480Phe Synonymous 32/32 - 1
21-34003719-A-G c.4425T>C p.Val1475Val Synonymous 32/32 - 1
21-34003722-G-A c.4422C>T p.Pro1474Pro Synonymous 32/32 - 1
21-34003725-C-T c.4419G>A p.Glu1473Glu Synonymous 32/32 - 1
21-34003737-G-A c.4407C>T p.Phe1469Phe Synonymous 32/32 - 1
21-34003744-G-A c.4400C>T p.Ser1467Leu Missense 32/32 - 1
21-34003744-G-T c.4400C>A p.Ser1467* Nonsense 32/32 - 1
21-34003745-A-T c.4399T>A p.Ser1467Thr Missense 32/32 - 1
21-34003779-T-C c.4365A>G p.Pro1455Pro Synonymous 32/32 - 1
21-34003782-G-A c.4362C>T p.Asn1454Asn Synonymous 32/32 - 1
21-34003786-C-T c.4358G>A p.Gly1453Glu Missense 32/32 - 2
21-34003790-G-A c.4354C>T p.Pro1452Ser Missense 32/32 - 1
21-34003795-G-A c.4349C>T p.Ala1450Val Missense 32/32 - 1
21-34003796-C-G c.4348G>C p.Ala1450Pro Missense 32/32 - 1
21-34003800-C-T c.4344G>A p.Arg1448Arg Synonymous 32/32 - 1
21-34003803-G-A c.4341C>T p.Asp1447Asp Synonymous 32/32 - 1
21-34003803-G-T c.4341C>A p.Asp1447Glu Missense 32/32 - 1
21-34003806-A-C c.4338T>G p.Ser1446Arg Missense 32/32 - 1
21-34003808-T-A c.4336A>T p.Ser1446Cys Missense 32/32 - 1
21-34003808-T-C c.4336A>G p.Ser1446Gly Missense 32/32 - 1
21-34003824-G-C c.4320C>G p.Thr1440Thr Synonymous 32/32 - 1
21-34003833-A-G c.4311T>C p.Thr1437Thr Synonymous 32/32 - 1
21-34003837-A-C c.4307T>G p.Ile1436Ser Missense 32/32 - 1
21-34003838-T-C c.4306A>G p.Ile1436Val Missense 32/32 - 1
21-34003845-G-A c.4299C>T p.Asn1433Asn Synonymous 32/32 - 1
21-34003850-G-T c.4294C>A p.Pro1432Thr Missense 32/32 - 1
21-34003851-A-G c.4293T>C p.Ser1431Ser Synonymous 32/32 - 1
21-34003858-C-A c.4286G>T p.Arg1429Leu Missense 32/32 - 1
21-34003858-C-T c.4286G>A p.Arg1429Gln Missense 32/32 - 1
21-34003859-G-A c.4285C>T p.Arg1429* Nonsense 32/32 - 1
21-34003859-G-C c.4285C>G p.Arg1429Gly Missense 32/32 - 1
21-34003865-T-C c.4279A>G p.Asn1427Asp Missense 32/32 - 1
21-34003880-T-G c.4264A>C p.Ser1422Arg Missense 32/32 - 2
21-34003881-C-A c.4263G>T p.Arg1421Arg Synonymous 32/32 - 1
21-34003881-C-G c.4263G>C p.Arg1421Arg Synonymous 32/32 - 1
21-34003881-C-T c.4263G>A p.Arg1421Arg Synonymous 32/32 - 1
21-34003882-C-T c.4262G>A p.Arg1421Gln Missense 32/32 - 1
21-34003883-G-A c.4261C>T p.Arg1421Trp Missense 32/32 - 1
21-34003885-G-A c.4259C>T p.Ala1420Val Missense 32/32 - 1
21-34003892-T-C c.4252A>G p.Ile1418Val Missense 32/32 - 1
21-34003901-T-C c.4243A>G p.Met1415Val Missense 32/32 - 1
21-34003903-G-A c.4241C>T p.Thr1414Ile Missense 32/32 - 1
21-34003907-G-A c.4237C>T p.Pro1413Ser Missense 32/32 - 1
21-34003909-A-G c.4235T>C p.Met1412Thr Missense 32/32 - 1
21-34003915-C-T c.4229G>A p.Ser1410Asn Missense 32/32 - 1
21-34003926-C-CG c.4217_4218insC p.Leu1406Phefs*42 Frameshift 32/32 - 1
21-34003926-C-T c.4218G>A p.Leu1406Leu Synonymous 32/32 - 1
21-34003927-A-G c.4217T>C p.Leu1406Ser Missense 32/32 - 1
21-34003928-A-AGTATTA c.4216_4217insAATACT p.Val1405_Leu1406ins* Nonsense 32/32 - 1
21-34003928-A-G c.4216T>C p.Leu1406Leu Synonymous 32/32 - 1
21-34003929-A-AGTAATA c.4215_4216insATTACT p.Val1405_Leu1406insIleThr InFrameInsertion 32/32 - 1
21-34003929-A-AGTACTA c.4215_4216insAGTACT p.Val1405_Leu1406insSerThr InFrameInsertion 32/32 - 1
21-34003929-A-AGTATTA c.4215_4216insAATACT p.Val1405_Leu1406insAsnThr InFrameInsertion 32/32 - 1
21-34003929-A-ATTA c.4215_4216insAAT p.Val1405_Leu1406insAsn InFrameInsertion 32/32 - 1
21-34003930-A-G c.4214T>C p.Val1405Ala Missense 32/32 - 1
21-34003931-C-T c.4213G>A p.Val1405Ile Missense 32/32 - 2
21-34003938-T-A c.4206A>T p.Gln1402His Missense 32/32 - 1
21-34003941-C-T c.4203G>A p.Thr1401Thr Synonymous 32/32 - 1
21-34003953-C-A c.4191G>T p.Leu1397Phe Missense 32/32 - 1
21-34003967-T-G c.4177A>C p.Arg1393Arg Synonymous 32/32 - 1
21-34003973-G-A c.4171C>T p.Pro1391Ser Missense 32/32 - 1
21-34003973-G-T c.4171C>A p.Pro1391Thr Missense 32/32 - 1
21-34003983-G-T c.4161C>A p.Pro1387Pro Synonymous 32/32 - 1
21-34003990-G-A c.4154C>T p.Pro1385Leu Missense 32/32 - 1
21-34003991-G-A c.4153C>T p.Pro1385Ser Missense 32/32 - 1
21-34003995-C-T c.4149G>A p.Thr1383Thr Synonymous 32/32 - 1
21-34003996-G-A c.4148C>T p.Thr1383Met Missense 32/32 - 1
21-34004006-A-G c.4138T>C p.Ser1380Pro Missense 32/32 - 1
21-34004007-T-C c.4137A>G p.Leu1379Leu Synonymous 32/32 - 1
21-34004010-C-A c.4134G>T p.Gln1378His Missense 32/32 - 1
21-34004010-C-G c.4134G>C p.Gln1378His Missense 32/32 - 1
21-34004016-C-G c.4128G>C p.Lys1376Asn Missense 32/32 - 1
21-34004016-C-T c.4128G>A p.Lys1376Lys Synonymous 32/32 - 1
21-34004018-T-C c.4126A>G p.Lys1376Glu Missense 32/32 - 1
21-34004040-T-C c.4104A>G p.Ser1368Ser Synonymous 32/32 - 1
21-34004058-G-A c.4086C>T p.Asp1362Asp Synonymous 32/32 - 1
21-34004060-C-A c.4084G>T p.Asp1362Tyr Missense 32/32 - 1
21-34004061-A-C c.4083T>G p.Ile1361Met Missense 32/32 - 1
21-34004074-G-A c.4070C>T p.Ser1357Leu Missense 32/32 - 1
21-34004094-G-A c.4050C>T p.Ile1350Ile Synonymous 32/32 - 1
21-34004094-G-T c.4050C>A p.Ile1350Ile Synonymous 32/32 - 1
21-34004105-T-C c.4039A>G p.Thr1347Ala Missense 32/32 - 1
21-34004106-T-C c.4038A>G p.Lys1346Lys Synonymous 32/32 - 1
21-34004111-C-T c.4033G>A p.Val1345Ile Missense 32/32 - 2
21-34005200-C-A c.4033-1089G>T - IntronicSNV - 31/31 1
21-34005200-C-G c.4033-1089G>C - IntronicSNV - 31/31 1
21-34005200-C-T c.4033-1089G>A - IntronicSNV - 31/31 1
21-34006917-T-G c.4033-2806A>C - IntronicSNV - 31/31 1
21-34007186-T-C c.4033-3075A>G - IntronicSNV - 31/31 1
21-34007190-T-C c.4033-3079A>G - IntronicSNV - 31/31 1
21-34007199-G-A c.4033-3088C>T - IntronicSNV - 31/31 1
21-34007201-G-C c.4033-3090C>G - IntronicSNV - 31/31 1
21-34011213-C-A c.4032+5G>T - IntronicSNV - 31/31 1
21-34011213-C-T c.4032+5G>A - IntronicSNV - 31/31 1
21-34011215-T-A c.4032+3A>T - IntronicSNV - 31/31 1
21-34011219-T-C c.4031A>G p.Gln1344Arg Missense 31/32 - 1
21-34011221-C-A c.4029G>T p.Pro1343Pro Synonymous 31/32 - 1
21-34011221-C-T c.4029G>A p.Pro1343Pro Synonymous 31/32 - 1
21-34011222-G-A c.4028C>T p.Pro1343Leu Missense 31/32 - 1
21-34011222-G-C c.4028C>G p.Pro1343Arg Missense 31/32 - 1
21-34011225-T-C c.4025A>G p.Gln1342Arg Missense 31/32 - 1
21-34011249-C-T c.4001G>A p.Ser1334Asn Missense 31/32 - 1
21-34011253-G-A c.3997C>T p.His1333Tyr Missense 31/32 - 1
21-34011257-T-A c.3993A>T p.Ser1331Ser Synonymous 31/32 - 1
21-34011260-C-A c.3990G>T p.Arg1330Ser Missense 31/32 - 1
21-34011260-C-G c.3990G>C p.Arg1330Ser Missense 31/32 - 1
21-34011260-C-T c.3990G>A p.Arg1330Arg Synonymous 31/32 - 1
21-34011261-C-G c.3989G>C p.Arg1330Thr Missense 31/32 - 1
21-34011267-C-G c.3983G>C p.Arg1328Pro Missense 31/32 - 1
21-34011267-C-T c.3983G>A p.Arg1328Gln Missense 31/32 - 1
21-34011283-G-C c.3967C>G p.Pro1323Ala Missense 31/32 - 1
21-34011286-G-C c.3964C>G p.Pro1322Ala Missense 31/32 - 1
21-34011295-A-T c.3955T>A p.Leu1319Met Missense 31/32 - 1
21-34011297-T-C c.3953A>G p.Asn1318Ser Missense 31/32 - 1
21-34011299-T-A c.3951A>T p.Pro1317Pro Synonymous 31/32 - 1
21-34011301-G-T c.3949C>A p.Pro1317Thr Missense 31/32 - 1
21-34011306-G-A c.3944C>T p.Pro1315Leu Missense 31/32 - 1
21-34011314-C-A c.3936G>T p.Gln1312His Missense 31/32 - 1
21-34011322-T-C c.3928A>G p.Met1310Val Missense 31/32 - 1
21-34011325-G-T c.3925C>A p.Pro1309Thr Missense 31/32 - 1
21-34011326-T-G c.3924A>C p.Ala1308Ala Synonymous 31/32 - 1
21-34011336-G-A c.3914C>T p.Pro1305Leu Missense 31/32 - 1
21-34011336-G-C c.3914C>G p.Pro1305Arg Missense 31/32 - 1
21-34011344-A-C c.3906T>G p.Pro1302Pro Synonymous 31/32 - 1
21-34011345-G-A c.3905C>T p.Pro1302Leu Missense 31/32 - 1
21-34011346-G-A c.3904C>T p.Pro1302Ser Missense 31/32 - 1
21-34011347-C-T c.3903G>A p.Glu1301Glu Synonymous 31/32 - 1
21-34011353-C-A c.3897G>T p.Leu1299Phe Missense 31/32 - 1
21-34011363-G-T c.3887C>A p.Ala1296Asp Missense 31/32 - 1
21-34011366-G-A c.3884C>T p.Pro1295Leu Missense 31/32 - 1
21-34011367-G-A c.3883C>T p.Pro1295Ser Missense 31/32 - 1
21-34011367-G-T c.3883C>A p.Pro1295Thr Missense 31/32 - 1
21-34011368-C-T c.3882G>A p.Pro1294Pro Synonymous 31/32 - 1
21-34011369-G-A c.3881C>T p.Pro1294Leu Missense 31/32 - 1
21-34011369-G-C c.3881C>G p.Pro1294Arg Missense 31/32 - 1
21-34011371-G-A c.3879C>T p.Pro1293Pro Synonymous 31/32 - 1
21-34011373-G-A c.3877C>T p.Pro1293Ser Missense 31/32 - 1
21-34011378-G-A c.3872C>T p.Ser1291Phe Missense 31/32 - 1
21-34011380-A-C c.3870T>G p.Ser1290Ser Synonymous 31/32 - 1
21-34011381-G-C c.3869C>G p.Ser1290Cys Missense 31/32 - 1
21-34011386-C-A c.3864G>T p.Pro1288Pro Synonymous 31/32 - 1
21-34011386-C-T c.3864G>A p.Pro1288Pro Synonymous 31/32 - 1
21-34011387-G-A c.3863C>T p.Pro1288Leu Missense 31/32 - 1
21-34011387-G-C c.3863C>G p.Pro1288Arg Missense 31/32 - 1
21-34011390-G-C c.3860C>G p.Pro1287Arg Missense 31/32 - 1
21-34011391-G-A c.3859C>T p.Pro1287Ser Missense 31/32 - 1
21-34011401-C-T c.3849G>A p.Gln1283Gln Synonymous 31/32 - 1
21-34011411-A-G c.3839T>C p.Leu1280Pro Missense 31/32 - 1
21-34011412-G-A c.3838C>T p.Leu1280Leu Synonymous 31/32 - 1
21-34011412-G-T c.3838C>A p.Leu1280Met Missense 31/32 - 1
21-34011414-G-A c.3836C>T p.Pro1279Leu Missense 31/32 - 1
21-34011415-G-A c.3835C>T p.Pro1279Ser Missense 31/32 - 1
21-34011430-T-A c.3820A>T p.Thr1274Ser Missense 31/32 - 1
21-34011430-T-C c.3820A>G p.Thr1274Ala Missense 31/32 - 1
21-34011985-C-A c.3810G>T p.Ser1270Ser Synonymous 30/32 - 1
21-34011985-C-T c.3810G>A p.Ser1270Ser Synonymous 30/32 - 1
21-34011987-A-G c.3808T>C p.Ser1270Pro Missense 30/32 - 1
21-34011989-G-A c.3806C>T p.Thr1269Met Missense 30/32 - 1
21-34011994-T-C c.3801A>G p.Ser1267Ser Synonymous 30/32 - 1
21-34012018-A-G c.3777T>C p.Thr1259Thr Synonymous 30/32 - 1
21-34012026-T-C c.3769A>G p.Arg1257Gly Missense 30/32 - 1
21-34012032-C-A c.3763G>T p.Ala1255Ser Missense 30/32 - 1
21-34012032-C-T c.3763G>A p.Ala1255Thr Missense 30/32 - 1
21-34012038-C-T c.3757G>A p.Ala1253Thr Missense 30/32 - 1
21-34012039-C-T c.3756G>A p.Arg1252Arg Synonymous 30/32 - 1
21-34012040-C-T c.3755G>A p.Arg1252Gln Missense 30/32 - 1
21-34012041-G-A c.3754C>T p.Arg1252Trp Missense 30/32 - 1
21-34012041-G-C c.3754C>G p.Arg1252Gly Missense 30/32 - 1
21-34012042-C-T c.3753G>A p.Ala1251Ala Synonymous 30/32 - 1
21-34012043-G-A c.3752C>T p.Ala1251Val Missense 30/32 - 1
21-34012043-G-C c.3752C>G p.Ala1251Gly Missense 30/32 - 1
21-34012043-G-T c.3752C>A p.Ala1251Glu Missense 30/32 - 1
21-34012044-C-T c.3751G>A p.Ala1251Thr Missense 30/32 - 1
21-34012045-G-A c.3750C>T p.His1250His Synonymous 30/32 - 1
21-34012056-G-A c.3739C>T p.Pro1247Ser Missense 30/32 - 1
21-34012064-A-G c.3731T>C p.Ile1244Thr Missense 30/32 - 1
21-34012074-C-A c.3721G>T p.Ala1241Ser Missense 30/32 - 1
21-34012076-C-T c.3719G>A p.Arg1240His Missense 30/32 - 1
21-34012077-G-A c.3718C>T p.Arg1240Cys Missense 30/32 - 1
21-34012083-G-A c.3712C>T p.Pro1238Ser Missense 30/32 - 1
21-34012087-C-T c.3708G>A p.Thr1236Thr Synonymous 30/32 - 1
21-34012088-G-A c.3707C>T p.Thr1236Met Missense 30/32 - 4
21-34012092-A-T c.3706-3T>A - IntronicSNV - 29/31 1
21-34014192-G-A c.3705+14C>T - IntronicSNV - 29/31 2
21-34014207-G-A c.3704C>T p.Pro1235Leu Missense 29/32 - 1
21-34014207-G-C c.3704C>G p.Pro1235Arg Missense 29/32 - 1
21-34014207-G-T c.3704C>A p.Pro1235Gln Missense 29/32 - 1
21-34014213-G-C c.3698C>G p.Ala1233Gly Missense 29/32 - 1
21-34014214-C-G c.3697G>C p.Ala1233Pro Missense 29/32 - 1
21-34014215-T-C c.3696A>G p.Thr1232Thr Synonymous 29/32 - 1
21-34014219-C-A c.3692G>T p.Ser1231Ile Missense 29/32 - 1
21-34014220-T-C c.3691A>G p.Ser1231Gly Missense 29/32 - 1
21-34014236-T-A c.3675A>T p.Pro1225Pro Synonymous 29/32 - 1
21-34014236-T-C c.3675A>G p.Pro1225Pro Synonymous 29/32 - 1
21-34014238-G-A c.3673C>T p.Pro1225Ser Missense 29/32 - 1
21-34014238-G-C c.3673C>G p.Pro1225Ala Missense 29/32 - 1
21-34014243-G-A c.3668C>T p.Ala1223Val Missense 29/32 - 1
21-34014244-C-G c.3667G>C p.Ala1223Pro Missense 29/32 - 1
21-34014248-T-A c.3663A>T p.Gly1221Gly Synonymous 29/32 - 1
21-34014248-T-C c.3663A>G p.Gly1221Gly Synonymous 29/32 - 1
21-34014252-G-C c.3659C>G p.Ala1220Gly Missense 29/32 - 1
21-34014259-G-A c.3652C>T p.Pro1218Ser Missense 29/32 - 1
21-34014273-C-T c.3638G>A p.Arg1213His Missense 29/32 - 1
21-34014282-A-AA c.3635-5dup - IntronicInsertion - 28/31 1
21-34014283-C-A c.3635-7G>T - IntronicSNV - 28/31 2
21-34014408-T-C c.3631A>G p.Ile1211Val Missense 28/32 - 1
21-34014422-G-A c.3617C>T p.Thr1206Ile Missense 28/32 - 1
21-34014423-T-C c.3616A>G p.Thr1206Ala Missense 28/32 - 1
21-34014425-GT-GA c.3613delinsT p.Thr1205Ser Missense 28/32 - 1
21-34014426-T-C c.3613A>G p.Thr1205Ala Missense 28/32 - 1
21-34014429-C-G c.3610G>C p.Gly1204Arg Missense 28/32 - 2
21-34014432-G-A c.3607C>T p.Pro1203Ser Missense 28/32 - 1
21-34014434-CT-GC c.3604_3605delinsGC p.Ser1202Ala Missense 28/32 - 1
21-34014437-T-C c.3602A>G p.Lys1201Arg Missense 28/32 - 1
21-34014768-C-T c.3596-325G>A - IntronicSNV - 27/31 2
21-34015723-C-T c.3592G>A p.Glu1198Lys Missense 27/32 - 1
21-34015735-T-C c.3580A>G p.Arg1194Gly Missense 27/32 - 1
21-34015746-G-A c.3569C>T p.Pro1190Leu Missense 27/32 - 1
21-34015750-T-C c.3565A>G p.Ser1189Gly Missense 27/32 - 1
21-34015758-G-A c.3557C>T p.Ala1186Val Missense 27/32 - 1
21-34015763-A-G c.3552T>C p.Ile1184Ile Synonymous 27/32 - 1
21-34015765-T-C c.3550A>G p.Ile1184Val Missense 27/32 - 1
21-34015767-C-T c.3548G>A p.Gly1183Asp Missense 27/32 - 1
21-34015771-T-C c.3548-4A>G - IntronicSNV - 26/31 1
21-34015774-A-G c.3548-7T>C - IntronicSNV - 26/31 1
21-34015775-G-T c.3548-8C>A - IntronicSNV - 26/31 1
21-34017281-C-T c.3544G>A p.Gly1182Arg Missense 26/32 - 1
21-34017293-T-C c.3532A>G p.Arg1178Gly Missense 26/32 - 1
21-34017295-G-C c.3530C>G p.Thr1177Ser Missense 26/32 - 1
21-34017296-T-C c.3529A>G p.Thr1177Ala Missense 26/32 - 1
21-34017296-T-G c.3529A>C p.Thr1177Pro Missense 26/32 - 1
21-34017298-G-A c.3527C>T p.Pro1176Leu Missense 26/32 - 1
21-34017305-G-A c.3520C>T p.Pro1174Ser Missense 26/32 - 1
21-34017321-T-A c.3509-5A>T - IntronicSNV - 25/31 1
21-34017321-T-C c.3509-5A>G - IntronicSNV - 25/31 1
21-34017324-T-A c.3509-8A>T - IntronicSNV - 25/31 1
21-34017948-G-A c.3508+8C>T - IntronicSNV - 25/31 1
21-34017950-T-G c.3508+6A>C - IntronicSNV - 25/31 1
21-34017963-C-T c.3501G>A p.Pro1167Pro Synonymous 25/32 - 1
21-34017964-G-C c.3500C>G p.Pro1167Arg Missense 25/32 - 1
21-34017964-G-T c.3500C>A p.Pro1167Gln Missense 25/32 - 1
21-34017965-G-T c.3499C>A p.Pro1167Thr Missense 25/32 - 1
21-34017969-A-T c.3495T>A p.Pro1165Pro Synonymous 25/32 - 1
21-34017977-G-C c.3487C>G p.Gln1163Glu Missense 25/32 - 2
21-34017978-T-C c.3486A>G p.Pro1162Pro Synonymous 25/32 - 1
21-34017978-T-G c.3486A>C p.Pro1162Pro Synonymous 25/32 - 1
21-34017979-G-C c.3485C>G p.Pro1162Arg Missense 25/32 - 1
21-34017985-G-A c.3479C>T p.Ala1160Val Missense 25/32 - 1
21-34017988-G-A c.3476C>T p.Pro1159Leu Missense 25/32 - 1
21-34017988-G-T c.3476C>A p.Pro1159Gln Missense 25/32 - 1
21-34017994-G-A c.3470C>T p.Thr1157Ile Missense 25/32 - 1
21-34018000-G-A c.3464C>T p.Pro1155Leu Missense 25/32 - 1
21-34018001-G-T c.3463C>A p.Pro1155Thr Missense 25/32 - 1
21-34018004-C-T c.3460G>A p.Ala1154Thr Missense 25/32 - 1
21-34018007-C-T c.3457G>A p.Val1153Ile Missense 25/32 - 1
21-34018014-G-C c.3450C>G p.Pro1150Pro Synonymous 25/32 - 1
21-34018016-G-T c.3448C>A p.Pro1150Thr Missense 25/32 - 1
21-34018023-C-T c.3441G>A p.Pro1147Pro Synonymous 25/32 - 1
21-34018024-G-A c.3440C>T p.Pro1147Leu Missense 25/32 - 1
21-34018046-G-C c.3418C>G p.Gln1140Glu Missense 25/32 - 1
21-34018049-C-T c.3415G>A p.Ala1139Thr Missense 25/32 - 1
21-34018062-C-A c.3402G>T p.Pro1134Pro Synonymous 25/32 - 1
21-34018062-C-T c.3402G>A p.Pro1134Pro Synonymous 25/32 - 1
21-34018063-G-A c.3401C>T p.Pro1134Leu Missense 25/32 - 1
21-34018081-T-C c.3383A>G p.Gln1128Arg Missense 25/32 - 1
21-34018095-GAGAAC-G c.3365_3369del p.Ser1122Thrfs*3 SpliceAcceptorDeletion 25/32 - 1
21-34018101-T-C c.3365-2A>G - IntronicSNV - 24/31 1
21-34018105-A-C c.3365-6T>G - IntronicSNV - 24/31 1
21-34018105-A-G c.3365-6T>C - IntronicSNV - 24/31 1
21-34018703-T-C c.3364A>G p.Ser1122Gly Missense 24/32 - 1
21-34018713-G-A c.3354C>T p.Pro1118Pro Synonymous 24/32 - 1
21-34018722-A-G c.3345T>C p.Pro1115Pro Synonymous 24/32 - 1
21-34018723-G-C c.3344C>G p.Pro1115Arg Missense 24/32 - 1
21-34018726-G-A c.3341C>T p.Thr1114Ile Missense 24/32 - 1
21-34018735-G-T c.3332C>A p.Pro1111Gln Missense 24/32 - 1
21-34018740-T-C c.3327A>G p.Arg1109Arg Synonymous 24/32 - 1
21-34018741-C-T c.3326G>A p.Arg1109Gln Missense 24/32 - 1
21-34018745-T-C c.3322A>G p.Ser1108Gly Missense 24/32 - 1
21-34018754-T-C c.3313A>G p.Ile1105Val Missense 24/32 - 1
21-34018755-G-A c.3312C>T p.Pro1104Pro Synonymous 24/32 - 1
21-34018756-G-A c.3311C>T p.Pro1104Leu Missense 24/32 - 1
21-34018756-G-C c.3311C>G p.Pro1104Arg Missense 24/32 - 1
21-34018756-G-T c.3311C>A p.Pro1104His Missense 24/32 - 1
21-34018757-G-A c.3310C>T p.Pro1104Ser Missense 24/32 - 1
21-34018763-A-G c.3304T>C p.Ser1102Pro Missense 24/32 - 1
21-34018769-C-A c.3298G>T p.Val1100Leu Missense 24/32 - 1
21-34018770-A-G c.3297T>C p.Pro1099Pro Synonymous 24/32 - 1
21-34018778-C-T c.3289G>A p.Glu1097Lys Missense 24/32 - 1
21-34018780-G-A c.3287C>T p.Ser1096Leu Missense 24/32 - 1
21-34018783-A-C c.3284T>G p.Ile1095Arg Missense 24/32 - 1
21-34018797-G-A c.3270C>T p.Cys1090Cys Synonymous 24/32 - 1
21-34018800-G-C c.3267C>G p.Pro1089Pro Synonymous 24/32 - 1
21-34018806-A-C c.3261T>G p.Thr1087Thr Synonymous 24/32 - 1
21-34018806-A-G c.3261T>C p.Thr1087Thr Synonymous 24/32 - 1
21-34018811-G-C c.3256C>G p.Arg1086Gly Missense 24/32 - 1
21-34018827-G-A c.3240C>T p.Ser1080Ser Synonymous 24/32 - 1
21-34018828-G-C c.3239C>G p.Ser1080Cys Missense 24/32 - 1
21-34018835-C-G c.3232G>C p.Gly1078Arg Missense 24/32 - 1
21-34018853-A-G c.3214T>C p.Ser1072Pro Missense 24/32 - 1
21-34018866-C-A c.3201G>T p.Gln1067His Missense 24/32 - 1
21-34018870-G-A c.3197C>T p.Pro1066Leu Missense 24/32 - 1
21-34018890-A-T c.3177T>A p.Ala1059Ala Synonymous 24/32 - 1
21-34018893-A-C c.3174T>G p.Ser1058Arg Missense 24/32 - 1
21-34018893-A-G c.3174T>C p.Ser1058Ser Synonymous 24/32 - 1
21-34018895-T-C c.3172A>G p.Ser1058Gly Missense 24/32 - 1
21-34018897-T-C c.3170A>G p.Tyr1057Cys Missense 24/32 - 1
21-34018897-T-G c.3170A>C p.Tyr1057Ser Missense 24/32 - 1
21-34018898-A-C c.3169T>G p.Tyr1057Asp Missense 24/32 - 1
21-34018898-A-G c.3169T>C p.Tyr1057His Missense 24/32 - 1
21-34018905-A-G c.3162T>C p.Val1054Val Synonymous 24/32 - 1
21-34018908-A-T c.3159T>A p.Asp1053Glu Missense 24/32 - 2
21-34018917-G-A c.3155-5C>T - IntronicSNV - 23/31 1
21-34020348-C-T c.3155-1436G>A - IntronicSNV - 23/31 2
21-34020653-A-G c.3155-1741T>C - IntronicSNV - 23/31 2
21-34020786-C-A c.3154+1708G>T - IntronicSNV - 23/31 2
21-34020913-C-T c.3154+1581G>A - IntronicSNV - 23/31 1
21-34022489-C-T c.3154+5G>A - IntronicSNV - 23/31 1
21-34022499-A-G c.3149T>C p.Met1050Thr Missense 23/32 - 1
21-34022518-C-T c.3130G>A p.Val1044Ile Missense 23/32 - 1
21-34022522-T-C c.3126A>G p.Ala1042Ala Synonymous 23/32 - 1
21-34022522-T-G c.3126A>C p.Ala1042Ala Synonymous 23/32 - 1
21-34022527-C-G c.3121G>C p.Asp1041His Missense 23/32 - 1
21-34022534-A-G c.3114T>C p.Leu1038Leu Synonymous 23/32 - 1
21-34022539-G-A c.3109C>T p.Leu1037Leu Synonymous 23/32 - 1
21-34022540-G-A c.3108C>T p.Thr1036Thr Synonymous 23/32 - 1
21-34022540-G-T c.3108C>A p.Thr1036Thr Synonymous 23/32 - 1
21-34022550-G-T c.3098C>A p.Thr1033Lys Missense 23/32 - 1
21-34022551-T-C c.3097A>G p.Thr1033Ala Missense 23/32 - 1
21-34022555-T-C c.3093A>G p.Ser1031Ser Synonymous 23/32 - 1
21-34022576-T-C c.3072A>G p.Lys1024Lys Synonymous 23/32 - 1
21-34022588-C-A c.3060G>T p.Met1020Ile Missense 23/32 - 2
21-34022588-C-T c.3060G>A p.Met1020Ile Missense 23/32 - 1
21-34022594-T-C c.3054A>G p.Glu1018Glu Synonymous 23/32 - 1
21-34022621-A-C c.3027T>G p.Ser1009Arg Missense 23/32 - 1
21-34022622-C-G c.3026G>C p.Ser1009Thr Missense 23/32 - 1
21-34022646-C-T c.3002G>A p.Arg1001Gln Missense 23/32 - 1
21-34022647-G-A c.3001C>T p.Arg1001Trp Missense 23/32 - 1
21-34022649-T-C c.2999A>G p.Asn1000Ser Missense 23/32 - 1
21-34022656-A-C c.2992T>G p.Leu998Val Missense 23/32 - 1
21-34022661-C-T c.2992-5G>A - IntronicSNV - 22/31 1
21-34022662-G-A c.2992-6C>T - IntronicSNV - 22/31 1
21-34024444-C-T c.2991+1154G>A - IntronicSNV - 22/31 2
21-34025592-C-T c.2991+6G>A - IntronicSNV - 22/31 1
21-34025593-C-T c.2991+5G>A - IntronicSNV - 22/31 1
21-34025611-A-C c.2978T>G p.Leu993Arg Missense 22/32 - 1
21-34025612-G-A c.2977C>T p.Leu993Leu Synonymous 22/32 - 1
21-34025623-T-A c.2966A>T p.Asn989Ile Missense 22/32 - 1
21-34025635-C-T c.2954G>A p.Ser985Asn Missense 22/32 - 1
21-34025636-T-C c.2953A>G p.Ser985Gly Missense 22/32 - 1
21-34025657-A-G c.2932T>C p.Trp978Arg Missense 22/32 - 1
21-34025658-C-T c.2931G>A p.Met977Ile Missense 22/32 - 1
21-34025672-C-T c.2917G>A p.Val973Ile Missense 22/32 - 1
21-34025674-A-G c.2915T>C p.Phe972Ser Missense 22/32 - 1
21-34027774-T-C c.2912+1223A>G - IntronicSNV - 21/31 2
21-34028990-A-G c.2912+7T>C - IntronicSNV - 21/31 1
21-34028991-T-C c.2912+6A>G - IntronicSNV - 21/31 1
21-34029006-A-C c.2903T>G p.Ile968Arg Missense 21/32 - 1
21-34029006-A-G c.2903T>C p.Ile968Thr Missense 21/32 - 1
21-34029022-T-G c.2887A>C p.Ser963Arg Missense 21/32 - 1
21-34029029-C-G c.2880G>C p.Gln960His Missense 21/32 - 1
21-34029032-C-G c.2877G>C p.Gln959His Missense 21/32 - 1
21-34029048-A-C c.2861T>G p.Ile954Ser Missense 21/32 - 1
21-34029048-A-G c.2861T>C p.Ile954Thr Missense 21/32 - 1
21-34029053-G-A c.2856C>T p.Ala952Ala Synonymous 21/32 - 1
21-34029058-C-T c.2851G>A p.Asp951Asn Missense 21/32 - 1
21-34029072-T-C c.2837A>G p.Asn946Ser Missense 21/32 - 1
21-34029077-T-C c.2832A>G p.Pro944Pro Synonymous 21/32 - 1
21-34029084-G-A c.2825C>T p.Ser942Phe Missense 21/32 - 1
21-34029084-G-C c.2825C>G p.Ser942Cys Missense 21/32 - 1
21-34029084-G-T c.2825C>A p.Ser942Tyr Missense 21/32 - 1
21-34029101-C-T c.2808G>A p.Leu936Leu Synonymous 21/32 - 1
21-34029103-A-G c.2806T>C p.Leu936Leu Synonymous 21/32 - 1
21-34029131-T-G c.2778A>C p.Ala926Ala Synonymous 21/32 - 1
21-34029132-G-A c.2777C>T p.Ala926Val Missense 21/32 - 1
21-34029139-C-G c.2770G>C p.Val924Leu Missense 21/32 - 1
21-34029139-C-T c.2770G>A p.Val924Ile Missense 21/32 - 1
21-34029153-T-C c.2756A>G p.Asn919Ser Missense 21/32 - 1
21-34029161-C-G c.2748G>C p.Glu916Asp Missense 21/32 - 1
21-34029161-C-T c.2748G>A p.Glu916Glu Synonymous 21/32 - 1
21-34029163-C-T c.2746G>A p.Glu916Lys Missense 21/32 - 1
21-34029170-T-C c.2739A>G p.Glu913Glu Synonymous 21/32 - 1
21-34029180-A-G c.2729T>C p.Phe910Ser Missense 21/32 - 1
21-34029183-A-G c.2726T>C p.Ile909Thr Missense 21/32 - 1
21-34029188-T-C c.2721A>G p.Ile907Met Missense 21/32 - 1
21-34029189-A-G c.2720T>C p.Ile907Thr Missense 21/32 - 1
21-34029193-C-A c.2716G>T p.Asp906Tyr Missense 21/32 - 1
21-34029195-A-G c.2714T>C p.Ile905Thr Missense 21/32 - 2
21-34029200-G-A c.2709C>T p.Ala903Ala Synonymous 21/32 - 1
21-34029205-C-G c.2704G>C p.Val902Leu Missense 21/32 - 1
21-34029205-C-T c.2704G>A p.Val902Ile Missense 21/32 - 1
21-34029206-G-A c.2703C>T p.Val901Val Synonymous 21/32 - 1
21-34029217-A-T c.2697-5T>A - IntronicSNV - 20/31 1
21-34029307-T-G c.2696+6A>C - IntronicSNV - 20/31 1
21-34029308-TA-TATA c.2696+4_2696+5dup - IntronicInsertion - 20/31 1
21-34029345-A-G c.2664T>C p.Tyr888Tyr Synonymous 20/32 - 1
21-34029346-T-C c.2663A>G p.Tyr888Cys Missense 20/32 - 2
21-34029348-G-A c.2661C>T p.His887His Synonymous 20/32 - 1
21-34029349-T-G c.2660A>C p.His887Pro Missense 20/32 - 1
21-34029350-G-A c.2659C>T p.His887Tyr Missense 20/32 - 1
21-34029351-C-A c.2658G>T p.Leu886Leu Synonymous 20/32 - 1
21-34029367-G-A c.2642C>T p.Thr881Ile Missense 20/32 - 1
21-34029367-G-T c.2642C>A p.Thr881Asn Missense 20/32 - 1
21-34029368-T-C c.2641A>G p.Thr881Ala Missense 20/32 - 1
21-34029372-C-A c.2637G>T p.Thr879Thr Synonymous 20/32 - 1
21-34029372-C-T c.2637G>A p.Thr879Thr Synonymous 20/32 - 1
21-34029373-G-A c.2636C>T p.Thr879Met Missense 20/32 - 1
21-34029387-G-T c.2622C>A p.Ser874Arg Missense 20/32 - 1
21-34029394-T-C c.2615A>G p.Asp872Gly Missense 20/32 - 1
21-34029404-T-C c.2605A>G p.Ser869Gly Missense 20/32 - 1
21-34029405-A-G c.2604T>C p.Ala868Ala Synonymous 20/32 - 1
21-34029423-A-C c.2586T>G p.Asp862Glu Missense 20/32 - 1
21-34029423-A-T c.2586T>A p.Asp862Glu Missense 20/32 - 1
21-34029425-C-A c.2584G>T p.Asp862Tyr Missense 20/32 - 1
21-34029434-C-T c.2579-4G>A - IntronicSNV - 19/31 1
21-34030022-C-T c.2578+4G>A - IntronicSNV - 19/31 1
21-34030048-C-T c.2556G>A p.Arg852Arg Synonymous 19/32 - 1
21-34030052-C-T c.2552G>A p.Arg851Lys Missense 19/32 - 1
21-34030076-C-T c.2528G>A p.Trp843* Nonsense 19/32 - 2
21-34030084-G-A c.2520C>T p.Thr840Thr Synonymous 19/32 - 1
21-34030088-C-T c.2516G>A p.Arg839His Missense 19/32 - 1
21-34030089-G-A c.2515C>T p.Arg839Cys Missense 19/32 - 4
21-34030090-G-A c.2514C>T p.Cys838Cys Synonymous 19/32 - 1
21-34030091-C-G c.2513G>C p.Cys838Ser Missense 19/32 - 1
21-34030102-G-C c.2502C>G p.Thr834Thr Synonymous 19/32 - 1
21-34030110-A-G c.2494T>C p.Tyr832His Missense 19/32 - 1
21-34030114-G-A c.2490C>T p.Asp830Asp Synonymous 19/32 - 1
21-34030114-G-C c.2490C>G p.Asp830Glu Missense 19/32 - 1
21-34030135-A-G c.2469T>C p.Tyr823Tyr Synonymous 19/32 - 1
21-34030136-T-C c.2468A>G p.Tyr823Cys Missense 19/32 - 1
21-34030141-C-T c.2463G>A p.Pro821Pro Synonymous 19/32 - 1
21-34030150-G-A c.2454C>T p.Thr818Thr Synonymous 19/32 - 1
21-34030150-G-C c.2454C>G p.Thr818Thr Synonymous 19/32 - 1
21-34030155-C-T c.2449G>A p.Val817Ile Missense 19/32 - 1
21-34030156-C-T c.2448G>A p.Lys816Lys Synonymous 19/32 - 1
21-34030162-T-C c.2442A>G p.Glu814Glu Synonymous 19/32 - 1
21-34030180-A-G c.2424T>C p.Val808Val Synonymous 19/32 - 1
21-34031856-C-T c.2422-1674G>A - IntronicSNV - 18/31 1
21-34037203-T-C c.2421+20A>G - IntronicSNV - 18/31 1
21-34037225-G-C c.2419C>G p.Gln807Glu Missense 18/32 - 1
21-34037226-T-C c.2418A>G p.Gly806Gly Synonymous 18/32 - 1
21-34037232-A-G c.2412T>C p.Asn804Asn Synonymous 18/32 - 1
21-34037245-A-G c.2399T>C p.Ile800Thr Missense 18/32 - 1
21-34037262-T-C c.2382A>G p.Ile794Met Missense 18/32 - 1
21-34037263-A-G c.2381T>C p.Ile794Thr Missense 18/32 - 1
21-34037270-A-G c.2374T>C p.Ser792Pro Missense 18/32 - 1
21-34037271-A-G c.2373T>C p.Asp791Asp Synonymous 18/32 - 1
21-34037273-C-A c.2371G>T p.Asp791Tyr Missense 18/32 - 1
21-34037277-A-T c.2367T>A p.Asn789Lys Missense 18/32 - 1
21-34037286-T-C c.2358A>G p.Arg786Arg Synonymous 18/32 - 1
21-34037301-A-T c.2343T>A p.Val781Val Synonymous 18/32 - 1
21-34037310-G-A c.2334C>T p.Asn778Asn Synonymous 18/32 - 1
21-34037313-A-G c.2331T>C p.Pro777Pro Synonymous 18/32 - 1
21-34037314-G-T c.2330C>A p.Pro777His Missense 18/32 - 1
21-34037317-A-G c.2327T>C p.Leu776Pro Missense 18/32 - 1
21-34037321-C-T c.2323G>A p.Asp775Asn Missense 18/32 - 1
21-34037322-G-A c.2322C>T p.Ile774Ile Synonymous 18/32 - 1
21-34037333-T-C c.2311A>G p.Asn771Asp Missense 18/32 - 1
21-34037355-A-G c.2289T>C p.Tyr763Tyr Synonymous 18/32 - 1
21-34037356-T-C c.2288A>G p.Tyr763Cys Missense 18/32 - 1
21-34037358-G-A c.2286C>T p.Asp762Asp Synonymous 18/32 - 1
21-34037361-A-G c.2283T>C p.His761His Synonymous 18/32 - 1
21-34037362-T-C c.2282A>G p.His761Arg Missense 18/32 - 1
21-34037362-T-G c.2282A>C p.His761Pro Missense 18/32 - 1
21-34037365-G-A c.2279C>T p.Ser760Phe Missense 18/32 - 1
21-34037370-T-A c.2274A>T p.Leu758Leu Synonymous 18/32 - 1
21-34037370-T-C c.2274A>G p.Leu758Leu Synonymous 18/32 - 1
21-34037389-C-T c.2263-8G>A - IntronicSNV - 17/31 1
21-34038245-G-A c.2262+8C>T - IntronicSNV - 17/31 1
21-34038254-A-T c.2261T>A p.Met754Lys Missense 17/32 - 1
21-34038255-T-A c.2260A>T p.Met754Leu Missense 17/32 - 1
21-34038255-T-C c.2260A>G p.Met754Val Missense 17/32 - 1
21-34038256-A-C c.2259T>G p.Pro753Pro Synonymous 17/32 - 1
21-34038272-C-T c.2243G>A p.Arg748Gln Missense 17/32 - 1
21-34038278-A-G c.2237T>C p.Ile746Thr Missense 17/32 - 1
21-34038285-T-C c.2230A>G p.Ile744Val Missense 17/32 - 1
21-34038308-A-G c.2207T>C p.Val736Ala Missense 17/32 - 1
21-34038317-T-C c.2198A>G p.Gln733Arg Missense 17/32 - 1
21-34038317-T-G c.2198A>C p.Gln733Pro Missense 17/32 - 1
21-34038338-C-A c.2177G>T p.Cys726Phe Missense 17/32 - 1
21-34038342-C-T c.2173G>A p.Val725Ile Missense 17/32 - 1
21-34038343-G-A c.2172C>T p.Phe724Phe Synonymous 17/32 - 1
21-34038343-G-T c.2172C>A p.Phe724Leu Missense 17/32 - 1
21-34038348-A-C c.2167T>G p.Cys723Gly Missense 17/32 - 1
21-34038353-C-T c.2162G>A p.Ser721Asn Missense 17/32 - 1
21-34038355-G-C c.2160C>G p.Thr720Thr Synonymous 17/32 - 1
21-34038360-T-C c.2155A>G p.Thr719Ala Missense 17/32 - 1
21-34038364-G-A c.2151C>T p.Phe717Phe Synonymous 17/32 - 1
21-34038402-T-C c.2113A>G p.Thr705Ala Missense 17/32 - 1
21-34038427-A-G c.2088T>C p.Thr696Thr Synonymous 17/32 - 1
21-34038430-A-G c.2085T>C p.Asp695Asp Synonymous 17/32 - 1
21-34038439-A-C c.2076T>G p.Val692Val Synonymous 17/32 - 1
21-34038445-C-T c.2070G>A p.Arg690Arg Synonymous 17/32 - 1
21-34038740-G-T c.2069+3C>A - IntronicSNV - 16/31 1
21-34038757-A-G c.2055T>C p.His685His Synonymous 16/32 - 1
21-34038775-A-G c.2037T>C p.Val679Val Synonymous 16/32 - 1
21-34038781-C-T c.2031G>A p.Leu677Leu Synonymous 16/32 - 1
21-34038789-C-T c.2023G>A p.Val675Ile Missense 16/32 - 1
21-34038790-G-A c.2022C>T p.Gly674Gly Synonymous 16/32 - 1
21-34038808-A-G c.2004T>C p.Ala668Ala Synonymous 16/32 - 1
21-34038809-G-A c.2003C>T p.Ala668Val Missense 16/32 - 1
21-34038825-T-C c.1987A>G p.Lys663Glu Missense 16/32 - 1
21-34038826-G-C c.1986C>G p.Asn662Lys Missense 16/32 - 1
21-34038828-T-C c.1984A>G p.Asn662Asp Missense 16/32 - 1
21-34038854-T-G c.1958A>C p.Glu653Ala Missense 16/32 - 1
21-34038857-A-G c.1955T>C p.Val652Ala Missense 16/32 - 1
21-34038865-G-C c.1947C>G p.Leu649Leu Synonymous 16/32 - 1
21-34038870-T-G c.1942A>C p.Lys648Gln Missense 16/32 - 1
21-34038871-C-T c.1941G>A p.Gln647Gln Synonymous 16/32 - 1
21-34038874-GA-G c.1938del p.Gln647Argfs*6 Frameshift 16/32 - 2
21-34038887-C-A c.1929-4G>T - IntronicSNV - 15/31 1
21-34038887-C-T c.1929-4G>A - IntronicSNV - 15/31 1
21-34041526-C-T c.1928+1072G>A - IntronicSNV - 15/31 2
21-34041650-G-A c.1928+948C>T - IntronicSNV - 15/31 1
21-34042592-G-A c.1928+6C>T - IntronicSNV - 15/31 1
21-34042634-A-G c.1892T>C p.Met631Thr Missense 15/32 - 1
21-34042647-C-T c.1879G>A p.Gly627Ser Missense 15/32 - 1
21-34042665-T-C c.1861A>G p.Thr621Ala Missense 15/32 - 1
21-34042669-C-A c.1857G>T p.Lys619Asn Missense 15/32 - 1
21-34042681-A-G c.1845T>C p.Asp615Asp Synonymous 15/32 - 1
21-34045650-C-A c.1843G>T p.Asp615Tyr Missense 14/32 - 1
21-34045672-T-G c.1821A>C p.Leu607Phe Missense 14/32 - 1
21-34045675-C-G c.1818G>C p.Lys606Asn Missense 14/32 - 1
21-34045679-G-A c.1814C>T p.Pro605Leu Missense 14/32 - 1
21-34045697-T-C c.1796A>G p.Asp599Gly Missense 14/32 - 1
21-34045698-C-G c.1795G>C p.Asp599His Missense 14/32 - 1
21-34045708-C-T c.1785G>A p.Gln595Gln Synonymous 14/32 - 1
21-34045710-G-C c.1783C>G p.Gln595Glu Missense 14/32 - 1
21-34045726-G-T c.1767C>A p.Ser589Arg Missense 14/32 - 1
21-34045735-T-C c.1758A>G p.Gln586Gln Synonymous 14/32 - 1
21-34045747-A-G c.1746T>C p.Asn582Asn Synonymous 14/32 - 1
21-34045765-G-A c.1728C>T p.Val576Val Synonymous 14/32 - 1
21-34045765-G-C c.1728C>G p.Val576Val Synonymous 14/32 - 1
21-34045773-C-T c.1720G>A p.Val574Ile Missense 14/32 - 1
21-34045775-C-T c.1718G>A p.Arg573Gln Missense 14/32 - 1
21-34045780-T-C c.1713A>G p.Lys571Lys Synonymous 14/32 - 1
21-34045787-G-A c.1706C>T p.Pro569Leu Missense 14/32 - 1
21-34045795-A-G c.1698T>C p.Tyr566Tyr Synonymous 14/32 - 1
21-34045799-T-C c.1694A>G p.Lys565Arg Missense 14/32 - 1
21-34045813-A-G c.1680T>C p.Cys560Cys Synonymous 14/32 - 1
21-34045817-A-G c.1676T>C p.Met559Thr Missense 14/32 - 1
21-34045820-C-G c.1673G>C p.Ser558Thr Missense 14/32 - 1
21-34045820-C-T c.1673G>A p.Ser558Asn Missense 14/32 - 1
21-34045821-T-C c.1672A>G p.Ser558Gly Missense 14/32 - 1
21-34045822-C-G c.1671G>C p.Lys557Asn Missense 14/32 - 1
21-34045823-T-C c.1670A>G p.Lys557Arg Missense 14/32 - 1
21-34045830-C-A c.1663G>T p.Val555Leu Missense 14/32 - 1
21-34045830-C-T c.1663G>A p.Val555Ile Missense 14/32 - 1
21-34045841-G-A c.1652C>T p.Ala551Val Missense 14/32 - 2
21-34046918-T-A c.1652-1077A>T - IntronicSNV - 13/31 1
21-34048637-T-C c.1651+5A>G - IntronicSNV - 13/31 1
21-34048637-T-G c.1651+5A>C - IntronicSNV - 13/31 1
21-34048638-G-C c.1651+4C>G - IntronicSNV - 13/31 1
21-34048638-G-T c.1651+4C>A - IntronicSNV - 13/31 1
21-34048669-T-C c.1628-4A>G - IntronicSNV - 12/31 2
21-34048673-T-A c.1628-8A>T - IntronicSNV - 12/31 1
21-34048673-T-C c.1628-8A>G - IntronicSNV - 12/31 1
21-34050957-C-T c.1625G>A p.Arg542His Missense 12/32 - 1
21-34050958-G-A c.1624C>T p.Arg542Cys Missense 12/32 - 1
21-34050962-A-G c.1620T>C p.Ser540Ser Synonymous 12/32 - 1
21-34050976-A-C c.1606T>G p.Leu536Val Missense 12/32 - 1
21-34050982-C-T c.1600G>A p.Ala534Thr Missense 12/32 - 1
21-34050984-C-T c.1598G>A p.Arg533Gln Missense 12/32 - 1
21-34050988-C-T c.1594G>A p.Ala532Thr Missense 12/32 - 1
21-34051007-A-G c.1575T>C p.Asn525Asn Synonymous 12/32 - 1
21-34051014-G-C c.1568C>G p.Thr523Ser Missense 12/32 - 1
21-34051024-G-A c.1558C>T p.Leu520Leu Synonymous 12/32 - 1
21-34051038-A-G c.1544T>C p.Ile515Thr Missense 12/32 - 1
21-34051056-C-G c.1526G>C p.Ser509Thr Missense 12/32 - 1
21-34051063-A-C c.1519T>G p.Phe507Val Missense 12/32 - 1
21-34051073-C-T c.1509G>A p.Gln503Gln Synonymous 12/32 - 1
21-34051095-C-T c.1487G>A p.Arg496His Missense 12/32 - 1
21-34051101-C-T c.1481G>A p.Gly494Asp Missense 12/32 - 1
21-34053799-G-A c.1470+7C>T - IntronicSNV - 11/31 1
21-34053801-T-C c.1470+5A>G - IntronicSNV - 11/31 1
21-34053813-T-C c.1463A>G p.Lys488Arg Missense 11/32 - 1
21-34053817-C-T c.1459G>A p.Gly487Arg Missense 11/32 - 1
21-34053840-T-C c.1436A>G p.Tyr479Cys Missense 11/32 - 1
21-34053853-T-A c.1423A>T p.Ile475Phe Missense 11/32 - 1
21-34053853-T-C c.1423A>G p.Ile475Val Missense 11/32 - 1
21-34053862-C-A c.1414G>T p.Gly472Cys Missense 11/32 - 1
21-34053864-T-A c.1412A>T p.Asn471Ile Missense 11/32 - 1
21-34053864-T-C c.1412A>G p.Asn471Ser Missense 11/32 - 1
21-34053865-T-C c.1411A>G p.Asn471Asp Missense 11/32 - 1
21-34053868-C-T c.1408G>A p.Val470Met Missense 11/32 - 1
21-34053877-T-C c.1399A>G p.Met467Val Missense 11/32 - 1
21-34053881-C-T c.1395G>A p.Arg465Arg Synonymous 11/32 - 1
21-34053900-C-G c.1376G>C p.Arg459Pro Missense 11/32 - 7
21-34053902-A-C c.1374T>G p.Thr458Thr Synonymous 11/32 - 1
21-34053905-C-G c.1371G>C p.Val457Val Synonymous 11/32 - 1
21-34053910-A-G c.1366T>C p.Leu456Leu Synonymous 11/32 - 1
21-34053914-A-G c.1362T>C p.Pro454Pro Synonymous 11/32 - 1
21-34053917-C-T c.1359G>A p.Lys453Lys Synonymous 11/32 - 1
21-34053918-T-C c.1358A>G p.Lys453Arg Missense 11/32 - 1
21-34053921-T-C c.1355A>G p.Glu452Gly Missense 11/32 - 1
21-34053931-C-G c.1345G>C p.Gly449Arg Missense 11/32 - 1
21-34053940-C-T c.1336G>A p.Glu446Lys Missense 11/32 - 1
21-34053955-G-C c.1321C>G p.Leu441Val Missense 11/32 - 1
21-34053961-T-A c.1318-3A>T - IntronicSNV - 10/31 2
21-34056342-T-C c.1317+6A>G - IntronicSNV - 10/31 1
21-34056342-T-G c.1317+6A>C - IntronicSNV - 10/31 1
21-34056354-G-A c.1311C>T p.Gly437Gly Synonymous 10/32 - 1
21-34056355-C-T c.1310G>A p.Gly437Asp Missense 10/32 - 1
21-34056365-C-T c.1300G>A p.Ala434Thr Missense 10/32 - 1
21-34056366-C-T c.1299G>A p.Gln433Gln Synonymous 10/32 - 1
21-34056372-A-G c.1293T>C p.Ser431Ser Synonymous 10/32 - 1
21-34056381-T-C c.1284A>G p.Arg428Arg Synonymous 10/32 - 1
21-34056401-A-T c.1264T>A p.Cys422Ser Missense 10/32 - 1
21-34056424-T-C c.1241A>G p.Gln414Arg Missense 10/32 - 1
21-34056436-C-G c.1236-7G>C - IntronicSNV - 9/31 1
21-34056436-C-T c.1236-7G>A - IntronicSNV - 9/31 1
21-34056437-C-A c.1236-8G>T - IntronicSNV - 9/31 1
21-34058050-A-G c.1235+8T>C - IntronicSNV - 9/31 1
21-34058051-G-A c.1235+7C>T - IntronicSNV - 9/31 1
21-34058062-G-C c.1231C>G p.Gln411Glu Missense 9/32 - 1
21-34058069-A-G c.1224T>C p.Ser408Ser Synonymous 9/32 - 1
21-34058070-C-T c.1223G>A p.Ser408Asn Missense 9/32 - 1
21-34058075-A-C c.1218T>G p.Asn406Lys Missense 9/32 - 1
21-34058075-A-G c.1218T>C p.Asn406Asn Synonymous 9/32 - 1
21-34058076-T-C c.1217A>G p.Asn406Ser Missense 9/32 - 1
21-34058084-A-T c.1209T>A p.Phe403Leu Missense 9/32 - 1
21-34058095-A-T c.1198T>A p.Tyr400Asn Missense 9/32 - 1
21-34058099-T-G c.1194A>C p.Leu398Leu Synonymous 9/32 - 1
21-34058113-C-T c.1180G>A p.Val394Ile Missense 9/32 - 1
21-34058130-C-A c.1163G>T p.Ser388Ile Missense 9/32 - 1
21-34058130-C-G c.1163G>C p.Ser388Thr Missense 9/32 - 1
21-34058131-T-C c.1162A>G p.Ser388Gly Missense 9/32 - 1
21-34058146-C-T c.1147G>A p.Ala383Thr Missense 9/32 - 2
21-34058162-C-T c.1131G>A p.Met377Ile Missense 9/32 - 1
21-34058174-G-A c.1119C>T p.Asp373Asp Synonymous 9/32 - 1
21-34058182-T-G c.1111A>C p.Asn371His Missense 9/32 - 1
21-34058195-A-G c.1098T>C p.Asp366Asp Synonymous 9/32 - 1
21-34059281-T-C c.1065+7A>G - IntronicSNV - 8/31 1
21-34059306-C-T c.1047G>A p.Met349Ile Missense 8/32 - 1
21-34059320-C-G c.1033G>C p.Glu345Gln Missense 8/32 - 1
21-34059326-A-G c.1027T>C p.Ser343Pro Missense 8/32 - 2
21-34059327-T-C c.1026A>G p.Gly342Gly Synonymous 8/32 - 1
21-34059331-A-T c.1022T>A p.Leu341His Missense 8/32 - 1
21-34059340-A-G c.1013T>C p.Val338Ala Missense 8/32 - 1
21-34059347-T-C c.1006A>G p.Ile336Val Missense 8/32 - 1
21-34059352-T-C c.1001A>G p.Lys334Arg Missense 8/32 - 12
21-34059353-T-G c.1000A>C p.Lys334Gln Missense 8/32 - 1
21-34059354-A-G c.999T>C p.Gly333Gly Synonymous 8/32 - 1
21-34059359-A-G c.994T>C p.Tyr332His Missense 8/32 - 1
21-34059372-T-C c.981A>G p.Thr327Thr Synonymous 8/32 - 1
21-34059374-T-G c.979A>C p.Thr327Pro Missense 8/32 - 1
21-34059380-A-G c.973T>C p.Phe325Leu Missense 8/32 - 1
21-34060610-T-C c.968+6A>G - IntronicSNV - 7/31 1
21-34060611-C-T c.968+5G>A - IntronicSNV - 7/31 1
21-34060616-C-T c.968G>A p.Arg323Lys Missense 7/32 - 1
21-34060624-A-G c.960T>C p.Ala320Ala Synonymous 7/32 - 1
21-34060630-T-G c.954A>C p.Ala318Ala Synonymous 7/32 - 1
21-34060633-A-G c.951T>C p.Asn317Asn Synonymous 7/32 - 1
21-34060636-G-A c.948C>T p.Ala316Ala Synonymous 7/32 - 1
21-34060656-T-C c.928A>G p.Met310Val Missense 7/32 - 1
21-34060658-C-A c.926G>T p.Arg309Leu Missense 7/32 - 1
21-34060658-C-T c.926G>A p.Arg309His Missense 7/32 - 1
21-34060659-G-A c.925C>T p.Arg309Cys Missense 7/32 - 1
21-34060664-C-T c.920G>A p.Arg307His Missense 7/32 - 1
21-34066531-C-G c.906+7G>C - IntronicSNV - 6/31 1
21-34066544-C-T c.900G>A p.Gly300Gly Synonymous 6/32 - 1
21-34066562-C-G c.882G>C p.Leu294Phe Missense 6/32 - 1
21-34066568-A-C c.876T>G p.Val292Val Synonymous 6/32 - 1
21-34066578-C-T c.866G>A p.Arg289Gln Missense 6/32 - 1
21-34066580-G-A c.864C>T p.Ile288Ile Synonymous 6/32 - 1
21-34066592-G-T c.852C>A p.Ser284Ser Synonymous 6/32 - 1
21-34066600-C-A c.844G>T p.Val282Phe Missense 6/32 - 1
21-34066600-C-T c.844G>A p.Val282Ile Missense 6/32 - 1
21-34066616-C-T c.828G>A p.Val276Val Synonymous 6/32 - 1
21-34066629-A-G c.823-8T>C - IntronicSNV - 5/31 1
21-34067359-A-G c.822+8T>C - IntronicSNV - 5/31 1
21-34067360-T-C c.822+7A>G - IntronicSNV - 5/31 1
21-34067370-T-C c.819A>G p.Glu273Glu Synonymous 5/32 - 1
21-34067383-A-G c.806T>C p.Phe269Ser Missense 5/32 - 1
21-34067388-G-A c.801C>T p.Ala267Ala Synonymous 5/32 - 1
21-34067413-C-A c.776G>T p.Gly259Val Missense 5/32 - 1
21-34067413-C-T c.776G>A p.Gly259Glu Missense 5/32 - 1
21-34067415-CCG-TGT c.772_774delinsACA p.Arg258Thr Missense 5/32 - 1
21-34067415-C-T c.774G>A p.Arg258Arg Synonymous 5/32 - 1
21-34067416-CG-TA c.772_773delinsTA p.Arg258* Nonsense 5/32 - 1
21-34067416-C-T c.773G>A p.Arg258Gln Missense 5/32 - 26
21-34067417-G-C c.772C>G p.Arg258Gly Missense 5/32 - 1
21-34067424-A-C c.765T>G p.Phe255Leu Missense 5/32 - 1
21-34067446-C-T c.743G>A p.Cys248Tyr Missense 5/32 - 1
21-34067458-G-A c.731C>T p.Ser244Leu Missense 5/32 - 1
21-34067462-T-C c.727A>G p.Ile243Val Missense 5/32 - 1
21-34067463-G-A c.726C>T p.Leu242Leu Synonymous 5/32 - 1
21-34067471-C-A c.718G>T p.Ala240Ser Missense 5/32 - 1
21-34067471-C-G c.718G>C p.Ala240Pro Missense 5/32 - 1
21-34067471-C-T c.718G>A p.Ala240Thr Missense 5/32 - 1
21-34067475-C-T c.714G>A p.Ala238Ala Synonymous 5/32 - 1
21-34067480-G-A c.709C>T p.Gln237* Nonsense 5/32 - 1
21-34067480-G-T c.709C>A p.Gln237Lys Missense 5/32 - 1
21-34067489-C-T c.700G>A p.Ala234Thr Missense 5/32 - 1
21-34067499-T-C c.690A>G p.Thr230Thr Synonymous 5/32 - 1
21-34067516-C-T c.673G>A p.Gly225Arg Missense 5/32 - 1
21-34067517-T-A c.672A>T p.Gly224Gly Synonymous 5/32 - 1
21-34067523-C-T c.666G>A p.Met222Ile Missense 5/32 - 1
21-34067530-C-T c.659G>A p.Arg220His Missense 5/32 - 1
21-34067531-G-A c.658C>T p.Arg220Cys Missense 5/32 - 1
21-34067539-C-A c.650G>T p.Trp217Leu Missense 5/32 - 1
21-34067543-C-T c.646G>A p.Asp216Asn Missense 5/32 - 1
21-34067555-C-T c.634G>A p.Val212Met Missense 5/32 - 1
21-34067561-A-G c.628T>C p.Tyr210His Missense 5/32 - 1
21-34067573-G-A c.616C>T p.His206Tyr Missense 5/32 - 1
21-34067583-A-C c.606T>G p.Ser202Ser Synonymous 5/32 - 1
21-34067589-A-C c.600T>G p.Asn200Lys Missense 5/32 - 1
21-34067599-G-A c.597-7C>T - IntronicSNV - 4/31 1
21-34068582-C-T c.597-990G>A - IntronicSNV - 4/31 1
21-34072140-G-A c.596+8C>T - IntronicSNV - 4/31 1
21-34072157-C-G c.587G>C p.Arg196Thr Missense 4/32 - 1
21-34072157-C-T c.587G>A p.Arg196Lys Missense 4/32 - 1
21-34072159-A-G c.585T>C p.Asn195Asn Synonymous 4/32 - 1
21-34072165-A-T c.579T>A p.Thr193Thr Synonymous 4/32 - 1
21-34072172-T-C c.572A>G p.Gln191Arg Missense 4/32 - 1
21-34072173-G-C c.571C>G p.Gln191Glu Missense 4/32 - 1
21-34072174-T-C c.570A>G p.Glu190Glu Synonymous 4/32 - 1
21-34072177-T-A c.567A>T p.Gln189His Missense 4/32 - 1
21-34072177-T-C c.567A>G p.Gln189Gln Synonymous 4/32 - 1
21-34072187-C-T c.557G>A p.Arg186His Missense 4/32 - 1
21-34072192-C-A c.552G>T p.Ala184Ala Synonymous 4/32 - 1
21-34072192-C-T c.552G>A p.Ala184Ala Synonymous 4/32 - 1
21-34072193-G-A c.551C>T p.Ala184Val Missense 4/32 - 1
21-34072206-A-G c.538T>C p.Leu180Leu Synonymous 4/32 - 1
21-34072218-T-A c.526A>T p.Ile176Phe Missense 4/32 - 1
21-34072218-T-C c.526A>G p.Ile176Val Missense 4/32 - 1
21-34072220-C-A c.524G>T p.Gly175Val Missense 4/32 - 1
21-34072220-C-T c.524G>A p.Gly175Asp Missense 4/32 - 1
21-34072222-A-G c.522T>C p.Ser174Ser Synonymous 4/32 - 1
21-34072222-A-T c.522T>A p.Ser174Ser Synonymous 4/32 - 1
21-34072232-C-T c.512G>A p.Trp171* Nonsense 4/32 - 1
21-34072234-T-C c.510A>G p.Ala170Ala Synonymous 4/32 - 1
21-34072243-A-G c.501T>C p.Phe167Phe Synonymous 4/32 - 1
21-34072268-C-T c.476G>A p.Arg159Gln Missense 4/32 - 1
21-34072276-T-C c.468A>G p.Ser156Ser Synonymous 4/32 - 1
21-34072278-A-G c.466T>C p.Ser156Pro Missense 4/32 - 1
21-34072284-G-A c.460C>T p.Arg154Cys Missense 4/32 - 1
21-34072291-A-G c.453T>C p.Asp151Asp Synonymous 4/32 - 1
21-34072292-T-A c.452A>T p.Asp151Val Missense 4/32 - 1
21-34072293-C-A c.451G>T p.Asp151Tyr Missense 4/32 - 1
21-34072293-C-T c.451G>A p.Asp151Asn Missense 4/32 - 1
21-34072295-G-A c.449C>T p.Ser150Leu Missense 4/32 - 1
21-34072296-A-C c.448T>G p.Ser150Ala Missense 4/32 - 1
21-34072301-T-C c.443A>G p.Asp148Gly Missense 4/32 - 1
21-34072303-G-A c.441C>T p.Ile147Ile Synonymous 4/32 - 1
21-34072307-C-T c.437G>A p.Arg146Gln Missense 4/32 - 2
21-34072313-G-A c.431C>T p.Ser144Leu Missense 4/32 - 1
21-34072316-A-G c.428T>C p.Ile143Thr Missense 4/32 - 1
21-34072321-C-T c.423G>A p.Glu141Glu Synonymous 4/32 - 1
21-34072326-T-A c.418A>T p.Thr140Ser Missense 4/32 - 1
21-34072327-G-A c.417C>T p.Ser139Ser Synonymous 4/32 - 1
21-34072327-G-C c.417C>G p.Ser139Ser Synonymous 4/32 - 1
21-34072337-C-T c.407G>A p.Arg136Gln Missense 4/32 - 1
21-34072338-G-A c.406C>T p.Arg136* Nonsense 4/32 - 4
21-34072356-G-C c.388C>G p.Gln130Glu Missense 4/32 - 1
21-34072367-A-G c.377T>C p.Val126Ala Missense 4/32 - 1
21-34072368-C-A c.376G>T p.Val126Phe Missense 4/32 - 1
21-34072374-T-A c.370A>T p.Met124Leu Missense 4/32 - 1
21-34072375-A-C c.369T>G p.Cys123Trp Missense 4/32 - 1
21-34072384-G-A c.360C>T p.Val120Val Synonymous 4/32 - 1
21-34072389-G-A c.355C>T p.Leu119Leu Synonymous 4/32 - 1
21-34072407-T-C c.337A>G p.Met113Val Missense 4/32 - 1
21-34072408-A-G c.336T>C p.Thr112Thr Synonymous 4/32 - 1
21-34072408-A-T c.336T>A p.Thr112Thr Synonymous 4/32 - 1
21-34074283-G-A c.316C>T p.Arg106Trp Missense 3/32 - 1
21-34074289-C-T c.310G>A p.Val104Ile Missense 3/32 - 1
21-34074296-G-C c.303C>G p.Leu101Leu Synonymous 3/32 - 1
21-34074305-T-C c.294A>G p.Ala98Ala Synonymous 3/32 - 1
21-34074305-T-G c.294A>C p.Ala98Ala Synonymous 3/32 - 1
21-34074307-C-T c.292G>A p.Ala98Thr Missense 3/32 - 1
21-34074317-T-C c.282A>G p.Lys94Lys Synonymous 3/32 - 1
21-34074320-G-C c.279C>G p.Ser93Ser Synonymous 3/32 - 1
21-34074322-A-C c.277T>G p.Ser93Ala Missense 3/32 - 1
21-34074326-T-C c.273A>G p.Thr91Thr Synonymous 3/32 - 1
21-34074352-C-T c.247G>A p.Ala83Thr Missense 3/32 - 1
21-34080468-G-A c.242-6111C>T - IntronicSNV - 2/31 1
21-34080468-G-C c.242-6111C>G - IntronicSNV - 2/31 1
21-34084830-T-A c.242-10473A>T - IntronicSNV - 2/31 1
21-34084830-T-C c.242-10473A>G - IntronicSNV - 2/31 1
21-34086304-A-G c.242-11947T>C - IntronicSNV - 2/31 1
21-34088470-T-C c.241+10613A>G - IntronicSNV - 2/31 2
21-34097985-G-A c.241+1098C>T - IntronicSNV - 2/31 2
21-34099076-G-A c.241+7C>T - IntronicSNV - 2/31 1
21-34099086-G-A c.238C>T p.Leu80Phe Missense 2/32 - 1
21-34099087-C-A c.237G>T p.Val79Val Synonymous 2/32 - 1
21-34099098-C-A c.226G>T p.Ala76Ser Missense 2/32 - 1
21-34099100-C-A c.224G>T p.Gly75Val Missense 2/32 - 1
21-34099100-C-T c.224G>A p.Gly75Glu Missense 2/32 - 1
21-34099108-G-A c.216C>T p.Phe72Phe Synonymous 2/32 - 1
21-34099108-G-C c.216C>G p.Phe72Leu Missense 2/32 - 1
21-34099111-C-A c.213G>T p.Met71Ile Missense 2/32 - 1
21-34099111-C-T c.213G>A p.Met71Ile Missense 2/32 - 1
21-34099114-G-C c.210C>G p.Leu70Leu Synonymous 2/32 - 1
21-34099124-T-G c.200A>C p.Glu67Ala Missense 2/32 - 2
21-34099130-T-A c.194A>T p.His65Leu Missense 2/32 - 1
21-34099130-T-G c.194A>C p.His65Pro Missense 2/32 - 1
21-34099133-C-G c.191G>C p.Arg64Thr Missense 2/32 - 1
21-34099133-C-T c.191G>A p.Arg64Lys Missense 2/32 - 1
21-34099142-A-C c.182T>G p.Val61Gly Missense 2/32 - 1
21-34099144-T-C c.180A>G p.Ile60Met Missense 2/32 - 1
21-34099144-T-G c.180A>C p.Ile60Ile Synonymous 2/32 - 1
21-34099146-T-C c.178A>G p.Ile60Val Missense 2/32 - 1
21-34099150-G-T c.174C>A p.Ser58Arg Missense 2/32 - 1
21-34099151-C-T c.173G>A p.Ser58Asn Missense 2/32 - 1
21-34099160-G-A c.164C>T p.Pro55Leu Missense 2/32 - 1
21-34099164-G-A c.160C>T p.Pro54Ser Missense 2/32 - 1
21-34099164-G-T c.160C>A p.Pro54Thr Missense 2/32 - 1
21-34099166-T-C c.158A>G p.Asp53Gly Missense 2/32 - 1
21-34099169-A-G c.155T>C p.Leu52Ser Missense 2/32 - 1
21-34099174-G-C c.150C>G p.His50Gln Missense 2/32 - 1
21-34099182-T-C c.142A>G p.Ile48Val Missense 2/32 - 1
21-34099187-A-T c.137T>A p.Phe46Tyr Missense 2/32 - 1
21-34099196-C-T c.128G>A p.Ser43Asn Missense 2/32 - 1
21-34099201-C-A c.123G>T p.Ala41Ala Synonymous 2/32 - 1
21-34099201-C-T c.123G>A p.Ala41Ala Synonymous 2/32 - 2
21-34099211-C-G c.113G>C p.Arg38Thr Missense 2/32 - 1
21-34099232-C-A c.96-4G>T - IntronicSNV - 1/31 1
21-34099232-C-T c.96-4G>A - IntronicSNV - 1/31 1
21-34100254-C-A c.95+3G>T - IntronicSNV - 1/31 1
21-34100254-C-G c.95+3G>C - IntronicSNV - 1/31 1
21-34100254-C-T c.95+3G>A - IntronicSNV - 1/31 1
21-34100265-C-G c.87G>C p.Arg29Arg Synonymous 1/32 - 1
21-34100265-C-T c.87G>A p.Arg29Arg Synonymous 1/32 - 1
21-34100272-C-T c.80G>A p.Arg27Lys Missense 1/32 - 1
21-34100283-T-C c.69A>G p.Arg23Arg Synonymous 1/32 - 1
21-34100288-C-T c.64G>A p.Gly22Arg Missense 1/32 - 1
21-34100293-C-T c.59G>A p.Gly20Asp Missense 1/32 - 1
21-34100294-C-A c.58G>T p.Gly20Cys Missense 1/32 - 1
21-34100294-C-T c.58G>A p.Gly20Ser Missense 1/32 - 1
21-34100297-C-T c.55G>A p.Gly19Ser Missense 1/32 - 1
21-34100298-G-A c.54C>T p.Gly18Gly Synonymous 1/32 - 1
21-34100298-G-T c.54C>A p.Gly18Gly Synonymous 1/32 - 1
21-34100302-C-T c.50G>A p.Cys17Tyr Missense 1/32 - 1
21-34100307-G-A c.45C>T p.Gly15Gly Synonymous 1/32 - 1
21-34100307-G-C c.45C>G p.Gly15Gly Synonymous 1/32 - 1
21-34100317-T-C c.35A>G p.Asp12Gly Missense 1/32 - 1
21-34100319-A-C c.33T>G p.Ser11Arg Missense 1/32 - 1
21-34100320-C-T c.32G>A p.Ser11Asn Missense 1/32 - 1