ALK

ALK ALK receptor tyrosine kinase

Annotation transcript: NM_004304.5

10686 unique variant annotations were identified in 3500 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
2-29415792-G-A c.*298C>T - 3-UTRSNV 29/29 - 7
2-29415979-G-A c.*111C>T - 3-UTRSNV 29/29 - 1
2-29416025-C-G c.*65G>C - 3-UTRSNV 29/29 - 1
2-29416025-C-CATTG c.*61_*64dup - 3-UTRInsertion 29/29 - 3
2-29416026-A-AATTG c.*63_*64insCAAT - 3-UTRInsertion 29/29 - 1
2-29416027-T-C c.*63A>G - 3-UTRSNV 29/29 - 2
2-29416037-C-G c.*53G>C - 3-UTRSNV 29/29 - 3
2-29416081-C-T c.*9G>A - 3-UTRSNV 29/29 - 1
2-29416091-C-T c.4862G>A p.*1621= Synonymous 29/29 - 1
2-29416092-A-G c.4861T>C p.*1621Rext*41 Missense 29/29 - 1
2-29416097-C-G c.4856G>C p.G1619A Missense 29/29 - 1
2-29416097-C-T c.4856G>A p.G1619E Missense 29/29 - 2
2-29416098-C-G c.4855G>C p.G1619R Missense 29/29 - 1
2-29416098-C-T c.4855G>A p.G1619R Missense 29/29 - 1
2-29416102-C-A c.4851G>T p.Q1617H Missense 29/29 - 1
2-29416102-C-G c.4851G>C p.Q1617H Missense 29/29 - 2
2-29416103-T-C c.4850A>G p.Q1617R Missense 29/29 - 1
2-29416103-T-G c.4850A>C p.Q1617P Missense 29/29 - 1
2-29416104-G-A c.4849C>T p.Q1617* Nonsense 29/29 - 5
2-29416105-G-A c.4848C>T p.N1616= Synonymous 29/29 - 1
2-29416108-C-A c.4845G>T p.M1615I Missense 29/29 - 4
2-29416108-C-G c.4845G>C p.M1615I Missense 29/29 - 4
2-29416108-C-T c.4845G>A p.M1615I Missense 29/29 - 11
2-29416110-T-A c.4843A>T p.M1615L Missense 29/29 - 2
2-29416110-T-G c.4843A>C p.M1615L Missense 29/29 - 2
2-29416111-G-C c.4842C>G p.S1614R Missense 29/29 - 2
2-29416111-G-T c.4842C>A p.S1614R Missense 29/29 - 3
2-29416113-T-G c.4840A>C p.S1614R Missense 29/29 - 2
2-29416117-C-G c.4836G>C p.K1612N Missense 29/29 - 1
2-29416117-C-T c.4836G>A p.K1612= Synonymous 29/29 - 5
2-29416118-T-C c.4835A>G p.K1612R Missense 29/29 - 1
2-29416119-T-C c.4834A>G p.K1612E Missense 29/29 - 1
2-29416121-C-T c.4832G>A p.S1611N Missense 29/29 - 1
2-29416123-T-A c.4830A>T p.K1610N Missense 29/29 - 2
2-29416124-T-C c.4829A>G p.K1610R Missense 29/29 - 2
2-29416124-TT-GC c.4828_4829delinsGC p.K1610A Missense 29/29 - 1
2-29416126-C-T c.4827G>A p.L1609= Synonymous 29/29 - 1
2-29416131-T-C c.4822A>G p.I1608V Missense 29/29 - 1
2-29416132-G-A c.4821C>T p.T1607= Synonymous 29/29 - 2
2-29416133-G-A c.4820C>T p.T1607I Missense 29/29 - 3
2-29416137-C-A c.4816G>T p.D1606Y Missense 29/29 - 1
2-29416138-C-T c.4815G>A p.E1605= Synonymous 29/29 - 1
2-29416139-T-A c.4814A>T p.E1605V Missense 29/29 - 2
2-29416140-C-G c.4813G>C p.E1605Q Missense 29/29 - 1
2-29416140-C-T c.4813G>A p.E1605K Missense 29/29 - 9
2-29416141-G-A c.4812C>T p.Y1604= Synonymous 29/29 - 4
2-29416141-G-T c.4812C>A p.Y1604* Nonsense 29/29 - 4
2-29416142-T-A c.4811A>T p.Y1604F Missense 29/29 - 1
2-29416142-T-C c.4811A>G p.Y1604C Missense 29/29 - 2
2-29416143-A-G c.4810T>C p.Y1604H Missense 29/29 - 3
2-29416144-A-G c.4809T>C p.H1603= Synonymous 29/29 - 1
2-29416146-G-T c.4807C>A p.H1603N Missense 29/29 - 1
2-29416149-C-G c.4804G>C p.G1602R Missense 29/29 - 1
2-29416149-C-T c.4804G>A p.G1602S Missense 29/29 - 1
2-29416151-G-A c.4802C>T p.A1601V Missense 29/29 - 1
2-29416151-G-T c.4802C>A p.A1601D Missense 29/29 - 1
2-29416152-C-G c.4801G>C p.A1601P Missense 29/29 - 1
2-29416152-C-T c.4801G>A p.A1601T Missense 29/29 - 3
2-29416153-T-A c.4800A>T p.G1600= Synonymous 29/29 - 1
2-29416153-T-C c.4800A>G p.G1600= Synonymous 29/29 - 4
2-29416153-T-G c.4800A>C p.G1600= Synonymous 29/29 - 1
2-29416154-C-A c.4799G>T p.G1600V Missense 29/29 - 1
2-29416156-A-C c.4797T>G p.P1599= Synonymous 29/29 - 1
2-29416156-A-G c.4797T>C p.P1599= Synonymous 29/29 - 2
2-29416156-A-T c.4797T>A p.P1599= Synonymous 29/29 - 1
2-29416157-G-T c.4796C>A p.P1599H Missense 29/29 - 9
2-29416158-G-A c.4795C>T p.P1599S Missense 29/29 - 3
2-29416162-A-T c.4791T>A p.T1597= Synonymous 29/29 - 1
2-29416163-G-A c.4790C>T p.T1597I Missense 29/29 - 1
2-29416164-T-C c.4789A>G p.T1597A Missense 29/29 - 2
2-29416166-G-A c.4787C>T p.A1596V Missense 29/29 - 1
2-29416167-C-G c.4786G>C p.A1596P Missense 29/29 - 1
2-29416167-C-T c.4786G>A p.A1596T Missense 29/29 - 1
2-29416168-G-A c.4785C>T p.A1595= Synonymous 29/29 - 7
2-29416168-G-C c.4785C>G p.A1595= Synonymous 29/29 - 1
2-29416168-G-T c.4785C>A p.A1595= Synonymous 29/29 - 1
2-29416169-G-A c.4784C>T p.A1595V Missense 29/29 - 1
2-29416170-C-CT c.4782dup p.A1595Sfs*20 Frameshift 29/29 - 1
2-29416172-T-C c.4781A>G p.E1594G Missense 29/29 - 1
2-29416173-C-A c.4780G>T p.E1594* Nonsense 29/29 - 1
2-29416173-C-G c.4780G>C p.E1594Q Missense 29/29 - 1
2-29416173-C-T c.4780G>A p.E1594K Missense 29/29 - 2
2-29416173-TCTAAGGGCAAGCCCTG-T c.4765_4780del p.Q1589Kfs*16 Frameshift 29/29 - 1
2-29416175-A-C c.4778T>G p.L1593* Nonsense 29/29 - 1
2-29416175-A-T c.4778T>A p.L1593* Nonsense 29/29 - 1
2-29416178-G-A c.4775C>T p.P1592L Missense 29/29 - 1
2-29416180-C-G c.4773G>C p.L1591F Missense 29/29 - 1
2-29416181-A-G c.4772T>C p.L1591S Missense 29/29 - 1
2-29416183-G-T c.4770C>A p.G1590= Synonymous 29/29 - 1
2-29416185-C-T c.4768G>A p.G1590S Missense 29/29 - 1
2-29416186-C-T c.4767G>A p.Q1589= Synonymous 29/29 - 1
2-29416187-T-C c.4766A>G p.Q1589R Missense 29/29 - 1
2-29416191-G-A c.4762C>T p.Q1588* Nonsense 29/29 - 1
2-29416191-G-T c.4762C>A p.Q1588K Missense 29/29 - 1
2-29416192-C-A c.4761G>T p.Q1587H Missense 29/29 - 1
2-29416192-C-G c.4761G>C p.Q1587H Missense 29/29 - 1
2-29416193-T-C c.4760A>G p.Q1587R Missense 29/29 - 1
2-29416195-G-C c.4758C>G p.Y1586* Nonsense 29/29 - 1
2-29416195-G-T c.4758C>A p.Y1586* Nonsense 29/29 - 2
2-29416199-C-T c.4754G>A p.G1585D Missense 29/29 - 1
2-29416200-C-T c.4753G>A p.G1585S Missense 29/29 - 6
2-29416201-G-A c.4752C>T p.Y1584= Synonymous 29/29 - 6
2-29416201-G-C c.4752C>G p.Y1584* Nonsense 29/29 - 1
2-29416201-G-T c.4752C>A p.Y1584* Nonsense 29/29 - 1
2-29416202-T-C c.4751A>G p.Y1584C Missense 29/29 - 1
2-29416204-A-G c.4749T>C p.N1583= Synonymous 29/29 - 1
2-29416205-T-C c.4748A>G p.N1583S Missense 29/29 - 3
2-29416205-TT-GC c.4747_4748delinsGC p.N1583A Missense 29/29 - 1
2-29416207-G-T c.4746C>A p.V1582= Synonymous 29/29 - 1
2-29416212-T-A c.4741A>T p.N1581Y Missense 29/29 - 1
2-29416213-C-T c.4740G>A p.G1580= Synonymous 29/29 - 3
2-29416214-C-A c.4739G>T p.G1580V Missense 29/29 - 6
2-29416214-CC-TA c.4738_4739delinsTA p.G1580* Nonsense 29/29 - 1
2-29416214-C-T c.4739G>A p.G1580E Missense 29/29 - 1
2-29416215-C-A c.4738G>T p.G1580W Missense 29/29 - 2
2-29416215-C-T c.4738G>A p.G1580R Missense 29/29 - 2
2-29416217-C-T c.4736G>A p.C1579Y Missense 29/29 - 2
2-29416220-G-A c.4733C>T p.P1578L Missense 29/29 - 1
2-29416221-G-A c.4732C>T p.P1578S Missense 29/29 - 3
2-29416224-A-C c.4729T>G p.F1577V Missense 29/29 - 3
2-29416224-A-G c.4729T>C p.F1577L Missense 29/29 - 2
2-29416225-G-A c.4728C>T p.H1576= Synonymous 29/29 - 1
2-29416227-G-T c.4726C>A p.H1576N Missense 29/29 - 1
2-29416229-C-A c.4724G>T p.R1575L Missense 29/29 - 1
2-29416229-C-G c.4724G>C p.R1575P Missense 29/29 - 1
2-29416229-C-T c.4724G>A p.R1575H Missense 29/29 - 9
2-29416230-G-A c.4723C>T p.R1575C Missense 29/29 - 6
2-29416232-A-G c.4721T>C p.L1574P Missense 29/29 - 1
2-29416234-C-A c.4719G>T p.R1573S Missense 29/29 - 1
2-29416234-CCT-ATG c.4717_4719delinsCAT p.R1573H Missense 29/29 - 1
2-29416233-G-GC c.4719dup p.L1574Afs*41 Frameshift 29/29 - 1
2-29416235-C-A c.4718G>T p.R1573M Missense 29/29 - 1
2-29416235-C-T c.4718G>A p.R1573K Missense 29/29 - 1
2-29416235-CT-TG c.4717_4718delinsCA p.R1573Q Missense 29/29 - 1
2-29416236-T-C c.4717A>G p.R1573G Missense 29/29 - 1
2-29416244-G-T c.4709C>A p.P1570H Missense 29/29 - 1
2-29416246-T-C c.4707A>G p.V1569= Synonymous 29/29 - 1
2-29416247-A-C c.4706T>G p.V1569G Missense 29/29 - 1
2-29416249-C-T c.4704G>A p.E1568= Synonymous 29/29 - 2
2-29416250-T-G c.4703A>C p.E1568A Missense 29/29 - 5
2-29416251-C-A c.4702G>T p.E1568* Nonsense 29/29 - 1
2-29416251-C-T c.4702G>A p.E1568K Missense 29/29 - 3
2-29416252-C-G c.4701G>C p.K1567N Missense 29/29 - 1
2-29416255-C-T c.4698G>A p.M1566I Missense 29/29 - 2
2-29416257-T-C c.4696A>G p.M1566V Missense 29/29 - 1
2-29416259-T-C c.4694A>G p.N1565S Missense 29/29 - 1
2-29416262-G-A c.4691C>T p.A1564V Missense 29/29 - 3
2-29416265-G-T c.4688C>A p.T1563N Missense 29/29 - 1
2-29416268-A-T c.4685T>A p.L1562Q Missense 29/29 - 1
2-29416270-C-A c.4683G>T p.S1561= Synonymous 29/29 - 3
2-29416270-C-G c.4683G>C p.S1561= Synonymous 29/29 - 3
2-29416270-C-T c.4683G>A p.S1561= Synonymous 29/29 - 3
2-29416271-G-A c.4682C>T p.S1561L Missense 29/29 - 7
2-29416274-G-C c.4679C>G p.S1560C Missense 29/29 - 1
2-29416276-G-A c.4677C>T p.P1559= Synonymous 29/29 - 1
2-29416277-GG-AA c.4675_4676delinsTT p.P1559F Missense 29/29 - 1
2-29416275-AG-A c.4677del p.S1560Lfs*3 Frameshift 29/29 - 1
2-29416278-G-A c.4675C>T p.P1559S Missense 29/29 - 4
2-29416281-C-G c.4672G>C p.E1558Q Missense 29/29 - 7
2-29416281-C-T c.4672G>A p.E1558K Missense 29/29 - 1
2-29416286-A-AT c.4666_4667insA p.L1556Hfs*59 Frameshift 29/29 - 1
2-29416287-G-T c.4666C>A p.L1556I Missense 29/29 - 1
2-29416288-C-A c.4665G>T p.L1555= Synonymous 29/29 - 1
2-29416288-C-G c.4665G>C p.L1555= Synonymous 29/29 - 2
2-29416288-C-T c.4665G>A p.L1555= Synonymous 29/29 - 1
2-29416290-G-A c.4663C>T p.L1555= Synonymous 29/29 - 2
2-29416293-A-G c.4660T>C p.S1554P Missense 29/29 - 4
2-29416295-G-T c.4658C>A p.A1553D Missense 29/29 - 1
2-29416296-C-G c.4657G>C p.A1553P Missense 29/29 - 1
2-29416296-C-T c.4657G>A p.A1553T Missense 29/29 - 4
2-29416298-C-G c.4655G>C p.G1552A Missense 29/29 - 1
2-29416299-C-G c.4654G>C p.G1552R Missense 29/29 - 3
2-29416299-C-T c.4654G>A p.G1552R Missense 29/29 - 3
2-29416300-C-A c.4653G>T p.P1551= Synonymous 29/29 - 4
2-29416300-C-G c.4653G>C p.P1551= Synonymous 29/29 - 1
2-29416300-C-T c.4653G>A p.P1551= Synonymous 29/29 - 3
2-29416301-G-A c.4652C>T p.P1551L Missense 29/29 - 5
2-29416302-G-A c.4651C>T p.P1551S Missense 29/29 - 3
2-29416307-C-A c.4646G>T p.R1549I Missense 29/29 - 2
2-29416308-T-C c.4645A>G p.R1549G Missense 29/29 - 1
2-29416310-C-T c.4643G>A p.G1548E Missense 29/29 - 1
2-29416311-C-G c.4642G>C p.G1548R Missense 29/29 - 1
2-29416311-C-T c.4642G>A p.G1548R Missense 29/29 - 2
2-29416313-G-A c.4640C>T p.T1547I Missense 29/29 - 3
2-29416317-C-T c.4636G>A p.A1546T Missense 29/29 - 2
2-29416319-A-G c.4634T>C p.V1545A Missense 29/29 - 1
2-29416320-C-T c.4633G>A p.V1545I Missense 29/29 - 14
2-29416321-G-A c.4632C>T p.N1544= Synonymous 29/29 - 10
2-29416321-G-C c.4632C>G p.N1544K Missense 29/29 - 4
2-29416321-G-T c.4632C>A p.N1544K Missense 29/29 - 7
2-29416323-T-C c.4630A>G p.N1544D Missense 29/29 - 3
2-29416323-T-G c.4630A>C p.N1544H Missense 29/29 - 1
2-29416325-G-A c.4628C>T p.P1543L Missense 29/29 - 1
2-29416324-AG-A c.4628del p.P1543Lfs*15 Frameshift 29/29 - 1
2-29416326-G-A c.4627C>T p.P1543S Missense 29/29 - 13
2-29416326-G-T c.4627C>A p.P1543T Missense 29/29 - 1
2-29416327-T-G c.4626A>C p.P1542= Synonymous 29/29 - 1
2-29416328-G-A c.4625C>T p.P1542L Missense 29/29 - 1
2-29416328-G-T c.4625C>A p.P1542Q Missense 29/29 - 1
2-29416329-G-A c.4624C>T p.P1542S Missense 29/29 - 1
2-29416327-TG-T c.4625del p.P1542Hfs*16 Frameshift 29/29 - 1
2-29416330-G-A c.4623C>T p.V1541= Synonymous 29/29 - 1
2-29416330-G-C c.4623C>G p.V1541= Synonymous 29/29 - 1
2-29416331-A-G c.4622T>C p.V1541A Missense 29/29 - 2
2-29416334-G-C c.4619C>G p.T1540S Missense 29/29 - 1
2-29416335-T-A c.4618A>T p.T1540S Missense 29/29 - 1
2-29416337-C-T c.4616G>A p.C1539Y Missense 29/29 - 1
2-29416338-A-G c.4615T>C p.C1539R Missense 29/29 - 1
2-29416339-G-A c.4614C>T p.S1538= Synonymous 29/29 - 1
2-29416340-C-A c.4613G>T p.S1538I Missense 29/29 - 1
2-29416340-CT-AA c.4612_4613delinsTT p.S1538F Missense 29/29 - 1
2-29416341-T-A c.4612A>T p.S1538C Missense 29/29 - 2
2-29416343-C-G c.4610G>C p.G1537A Missense 29/29 - 2
2-29416343-C-T c.4610G>A p.G1537E Missense 29/29 - 1
2-29416344-C-T c.4609G>A p.G1537R Missense 29/29 - 1
2-29416345-C-A c.4608G>T p.E1536D Missense 29/29 - 1
2-29416345-C-T c.4608G>A p.E1536= Synonymous 29/29 - 6
2-29416346-T-C c.4607A>G p.E1536G Missense 29/29 - 1
2-29416347-C-G c.4606G>C p.E1536Q Missense 29/29 - 2
2-29416347-C-T c.4606G>A p.E1536K Missense 29/29 - 1
2-29416348-C-A c.4605G>T p.L1535= Synonymous 29/29 - 2
2-29416348-C-G c.4605G>C p.L1535= Synonymous 29/29 - 2
2-29416348-C-T c.4605G>A p.L1535= Synonymous 29/29 - 3
2-29416350-G-A c.4603C>T p.L1535= Synonymous 29/29 - 1
2-29416349-A-T c.4604T>A p.L1535Q Missense 29/29 - 1
2-29416351-C-T c.4602G>A p.G1534= Synonymous 29/29 - 1
2-29416352-C-G c.4601G>C p.G1534A Missense 29/29 - 2
2-29416352-C-T c.4601G>A p.G1534E Missense 29/29 - 6
2-29416353-C-G c.4600G>C p.G1534R Missense 29/29 - 3
2-29416353-C-T c.4600G>A p.G1534R Missense 29/29 - 1
2-29416350-GC-G c.4602del p.L1535Wfs*23 Frameshift 29/29 - 1
2-29416356-G-A c.4597C>T p.L1533= Synonymous 29/29 - 1
2-29416356-G-T c.4597C>A p.L1533M Missense 29/29 - 1
2-29416357-G-A c.4596C>T p.N1532= Synonymous 29/29 - 2
2-29416355-AGGTTACCCCTGTCGTGTGGCTCCTTCTTTGCTATAGGATTATTCTTTTT-A c.4549_4597del p.K1517Wfs*25 Frameshift 29/29 - 1
2-29416359-T-A c.4594A>T p.N1532Y Missense 29/29 - 1
2-29416359-T-C c.4594A>G p.N1532D Missense 29/29 - 2
2-29416360-AC-CT c.4592_4593delinsAG p.G1531E Missense 29/29 - 1
2-29416360-TA-T c.4593del p.N1532Tfs*26 Frameshift 29/29 - 1
2-29416361-C-A c.4592G>T p.G1531V Missense 29/29 - 2
2-29416361-C-G c.4592G>C p.G1531A Missense 29/29 - 1
2-29416361-C-T c.4592G>A p.G1531D Missense 29/29 - 1
2-29416362-C-T c.4591G>A p.G1531S Missense 29/29 - 2
2-29416363-C-A c.4590G>T p.R1530S Missense 29/29 - 1
2-29416364-C-A c.4589G>T p.R1530M Missense 29/29 - 2
2-29416364-C-T c.4589G>A p.R1530K Missense 29/29 - 2
2-29416365-T-C c.4588A>G p.R1530G Missense 29/29 - 1
2-29416366-G-A c.4587C>T p.D1529= Synonymous 29/29 - 2
2-29416366-G-C c.4587C>G p.D1529E Missense 29/29 - 83
2-29416366-G-T c.4587C>A p.D1529E Missense 29/29 - 10
2-29416367-T-A c.4586A>T p.D1529V Missense 29/29 - 1
2-29416368-C-A c.4585G>T p.D1529Y Missense 29/29 - 1
2-29416368-C-T c.4585G>A p.D1529N Missense 29/29 - 3
2-29416369-G-A c.4584C>T p.H1528= Synonymous 29/29 - 7
2-29416369-G-C c.4584C>G p.H1528Q Missense 29/29 - 1
2-29416369-G-T c.4584C>A p.H1528Q Missense 29/29 - 2
2-29416371-G-A c.4582C>T p.H1528Y Missense 29/29 - 1
2-29416373-G-A c.4580C>T p.P1527L Missense 29/29 - 1
2-29416374-G-A c.4579C>T p.P1527S Missense 29/29 - 4
2-29416375-C-A c.4578G>T p.E1526D Missense 29/29 - 1
2-29416375-C-G c.4578G>C p.E1526D Missense 29/29 - 1
2-29416375-C-T c.4578G>A p.E1526= Synonymous 29/29 - 3
2-29416377-C-T c.4576G>A p.E1526K Missense 29/29 - 3
2-29416379-T-G c.4574A>C p.K1525T Missense 29/29 - 1
2-29416380-T-C c.4573A>G p.K1525E Missense 29/29 - 18
2-29416377-CCTT-C c.4573_4575del p.K1525del InFrameDeletion 29/29 - 6
2-29416382-T-C c.4571A>G p.K1524R Missense 29/29 - 2
2-29416385-G-A c.4568C>T p.A1523V Missense 29/29 - 2
2-29416386-C-G c.4567G>C p.A1523P Missense 29/29 - 2
2-29416387-T-C c.4566A>G p.I1522M Missense 29/29 - 1
2-29416388-A-C c.4565T>G p.I1522R Missense 29/29 - 1
2-29416388-A-G c.4565T>C p.I1522T Missense 29/29 - 1
2-29416391-G-A c.4562C>T p.P1521L Missense 29/29 - 1
2-29416391-G-T c.4562C>A p.P1521H Missense 29/29 - 3
2-29416394-T-A c.4559A>T p.N1520I Missense 29/29 - 1
2-29416396-A-G c.4557T>C p.N1519= Synonymous 29/29 - 1
2-29416399-C-A c.4554G>T p.K1518N Missense 29/29 - 7
2-29416399-C-G c.4554G>C p.K1518N Missense 29/29 - 2
2-29416399-CTTT-C c.4551_4553del p.K1518del InFrameDeletion 29/29 - 1
2-29416402-T-C c.4551A>G p.K1517= Synonymous 29/29 - 1
2-29416406-G-A c.4547C>T p.T1516I Missense 29/29 - 1
2-29416406-G-C c.4547C>G p.T1516S Missense 29/29 - 1
2-29416406-G-T c.4547C>A p.T1516N Missense 29/29 - 1
2-29416407-T-A c.4546A>T p.T1516S Missense 29/29 - 1
2-29416408-G-A c.4545C>T p.P1515= Synonymous 29/29 - 1
2-29416408-G-C c.4545C>G p.P1515= Synonymous 29/29 - 1
2-29416408-G-T c.4545C>A p.P1515= Synonymous 29/29 - 1
2-29416409-G-C c.4544C>G p.P1515R Missense 29/29 - 1
2-29416411-T-A c.4542A>T p.K1514N Missense 29/29 - 2
2-29416411-T-G c.4542A>C p.K1514N Missense 29/29 - 3
2-29416413-T-A c.4540A>T p.K1514* Nonsense 29/29 - 1
2-29416414-C-A c.4539G>T p.E1513D Missense 29/29 - 1
2-29416414-C-G c.4539G>C p.E1513D Missense 29/29 - 2
2-29416414-C-T c.4539G>A p.E1513= Synonymous 29/29 - 2
2-29416416-C-G c.4537G>C p.E1513Q Missense 29/29 - 1
2-29416416-C-T c.4537G>A p.E1513K Missense 29/29 - 5
2-29416417-T-C c.4536A>G p.T1512= Synonymous 29/29 - 1
2-29416418-G-A c.4535C>T p.T1512I Missense 29/29 - 3
2-29416418-G-T c.4535C>A p.T1512K Missense 29/29 - 4
2-29416420-A-G c.4533T>C p.F1511= Synonymous 29/29 - 1
2-29416421-A-C c.4532T>G p.F1511C Missense 29/29 - 1
2-29416421-A-T c.4532T>A p.F1511Y Missense 29/29 - 1
2-29416422-A-T c.4531T>A p.F1511I Missense 29/29 - 1
2-29416423-C-G c.4530G>C p.W1510C Missense 29/29 - 2
2-29416423-C-T c.4530G>A p.W1510* Nonsense 29/29 - 1
2-29416424-C-T c.4529G>A p.W1510* Nonsense 29/29 - 1
2-29416425-A-G c.4528T>C p.W1510R Missense 29/29 - 1
2-29416426-G-A c.4527C>T p.S1509= Synonymous 29/29 - 1
2-29416427-GA-TT c.4525_4526delinsAA p.S1509N Missense 29/29 - 1
2-29416429-G-A c.4524C>T p.G1508= Synonymous 29/29 - 1
2-29416430-C-T c.4523G>A p.G1508D Missense 29/29 - 7
2-29416431-C-A c.4522G>T p.G1508C Missense 29/29 - 1
2-29416431-C-T c.4522G>A p.G1508S Missense 29/29 - 5
2-29416432-G-A c.4521C>T p.Y1507= Synonymous 29/29 - 2
2-29416433-T-C c.4520A>G p.Y1507C Missense 29/29 - 2
2-29416434-A-G c.4519T>C p.Y1507H Missense 29/29 - 1
2-29416435-C-A c.4518G>T p.T1506= Synonymous 29/29 - 2
2-29416435-C-G c.4518G>C p.T1506= Synonymous 29/29 - 2
2-29416435-C-T c.4518G>A p.T1506= Synonymous 29/29 - 3
2-29416436-G-A c.4517C>T p.T1506M Missense 29/29 - 5
2-29416437-T-A c.4516A>T p.T1506S Missense 29/29 - 1
2-29416437-T-C c.4516A>G p.T1506A Missense 29/29 - 1
2-29416439-G-A c.4514C>T p.P1505L Missense 29/29 - 1
2-29416440-G-A c.4513C>T p.P1505S Missense 29/29 - 2
2-29416441-G-A c.4512C>T p.N1504= Synonymous 29/29 - 2
2-29416441-G-T c.4512C>A p.N1504K Missense 29/29 - 1
2-29416444-C-A c.4509G>T p.W1503C Missense 29/29 - 1
2-29416444-C-G c.4509G>C p.W1503C Missense 29/29 - 1
2-29416444-C-T c.4509G>A p.W1503* Nonsense 29/29 - 1
2-29416445-C-T c.4508G>A p.W1503* Nonsense 29/29 - 3
2-29416446-A-G c.4507T>C p.W1503R Missense 29/29 - 1
2-29416446-A-T c.4507T>A p.W1503R Missense 29/29 - 1
2-29416447-C-T c.4506G>A p.L1502= Synonymous 29/29 - 1
2-29416448-A-C c.4505T>G p.L1502W Missense 29/29 - 1
2-29416450-G-C c.4503C>G p.S1501R Missense 29/29 - 1
2-29416450-G-T c.4503C>A p.S1501R Missense 29/29 - 1
2-29416452-T-G c.4501A>C p.S1501R Missense 29/29 - 1
2-29416453-G-A c.4500C>T p.T1500= Synonymous 29/29 - 1
2-29416454-G-A c.4499C>T p.T1500I Missense 29/29 - 3
2-29416456-G-A c.4497C>T p.P1499= Synonymous 29/29 - 1
2-29416456-G-C c.4497C>G p.P1499= Synonymous 29/29 - 1
2-29416456-G-T c.4497C>A p.P1499= Synonymous 29/29 - 1
2-29416459-C-A c.4494G>T p.K1498N Missense 29/29 - 1
2-29416459-C-G c.4494G>C p.K1498N Missense 29/29 - 1
2-29416462-G-C c.4491C>G p.N1497K Missense 29/29 - 2
2-29416462-G-T c.4491C>A p.N1497K Missense 29/29 - 2
2-29416463-T-A c.4490A>T p.N1497I Missense 29/29 - 2
2-29416465-TCT-ATG c.4486_4488delinsCAT p.R1496H Missense 29/29 - 1
2-29416466-C-A c.4487G>T p.R1496I Missense 29/29 - 1
2-29416466-C-T c.4487G>A p.R1496K Missense 29/29 - 1
2-29416467-T-A c.4486A>T p.R1496* Nonsense 29/29 - 1
2-29416467-T-G c.4486A>C p.R1496= Synonymous 29/29 - 1
2-29416467-TG-T c.4485del p.R1496Efs*27 Frameshift 29/29 - 1
2-29416469-G-A c.4484C>T p.S1495F Missense 29/29 - 2
2-29416470-A-T c.4483T>A p.S1495T Missense 29/29 - 3
2-29416471-TCC-GCT c.4480_4482delinsAGC p.G1494S Missense 29/29 - 1
2-29416472-C-T c.4481G>A p.G1494E Missense 29/29 - 12
2-29416473-C-A c.4480G>T p.G1494* Nonsense 29/29 - 1
2-29416473-C-G c.4480G>C p.G1494R Missense 29/29 - 2
2-29416473-C-T c.4480G>A p.G1494R Missense 29/29 - 7
2-29416474-G-A c.4479C>T p.H1493= Synonymous 29/29 - 1
2-29416475-T-A c.4478A>T p.H1493L Missense 29/29 - 1
2-29416476-G-T c.4477C>A p.H1493N Missense 29/29 - 1
2-29416475-T-TG c.4477dup p.H1493Pfs*28 Frameshift 29/29 - 1
2-29416479-C-T c.4474G>A p.V1492I Missense 29/29 - 2
2-29416480-C-T c.4473G>A p.K1491= Synonymous 29/29 - 4
2-29416481-T-C c.4472A>G p.K1491R Missense 29/29 - 90
2-29416481-T-G c.4472A>C p.K1491T Missense 29/29 - 1
2-29416483-G-A c.4470C>T p.H1490= Synonymous 29/29 - 1
2-29416483-G-C c.4470C>G p.H1490Q Missense 29/29 - 1
2-29416483-G-T c.4470C>A p.H1490Q Missense 29/29 - 1
2-29416485-G-A c.4468C>T p.H1490Y Missense 29/29 - 1
2-29416486-C-A c.4467G>T p.L1489F Missense 29/29 - 1
2-29416486-C-T c.4467G>A p.L1489= Synonymous 29/29 - 1
2-29416487-A-C c.4466T>G p.L1489W Missense 29/29 - 1
2-29416488-A-T c.4465T>A p.L1489M Missense 29/29 - 1
2-29416491-C-G c.4462G>C p.E1488Q Missense 29/29 - 1
2-29416491-C-T c.4462G>A p.E1488K Missense 29/29 - 4
2-29416492-C-A c.4461G>T p.S1487= Synonymous 29/29 - 1
2-29416492-C-G c.4461G>C p.S1487= Synonymous 29/29 - 1
2-29416492-C-T c.4461G>A p.S1487= Synonymous 29/29 - 3
2-29416493-G-A c.4460C>T p.S1487L Missense 29/29 - 9
2-29416494-A-G c.4459T>C p.S1487P Missense 29/29 - 1
2-29416495-A-G c.4458T>C p.P1486= Synonymous 29/29 - 1
2-29416497-G-A c.4456C>T p.P1486S Missense 29/29 - 2
2-29416498-A-C c.4455T>G p.P1485= Synonymous 29/29 - 1
2-29416499-G-A c.4454C>T p.P1485L Missense 29/29 - 2
2-29416499-G-T c.4454C>A p.P1485H Missense 29/29 - 1
2-29416500-G-T c.4453C>A p.P1485T Missense 29/29 - 1
2-29416501-G-A c.4452C>T p.N1484= Synonymous 29/29 - 1
2-29416502-T-C c.4451A>G p.N1484S Missense 29/29 - 2
2-29416503-T-C c.4450A>G p.N1484D Missense 29/29 - 2
2-29416505-G-A c.4448C>T p.S1483F Missense 29/29 - 1
2-29416508-T-G c.4445A>C p.Q1482P Missense 29/29 - 2
2-29416509-G-T c.4444C>A p.Q1482K Missense 29/29 - 1
2-29416511-G-A c.4442C>T p.S1481F Missense 29/29 - 2
2-29416511-GA-TT c.4441_4442delinsAA p.S1481N Missense 29/29 - 1
2-29416511-G-C c.4442C>G p.S1481C Missense 29/29 - 1
2-29416513-G-C c.4440C>G p.F1480L Missense 29/29 - 3
2-29416513-G-T c.4440C>A p.F1480L Missense 29/29 - 3
2-29416515-A-G c.4438T>C p.F1480L Missense 29/29 - 3
2-29416517-G-A c.4436C>T p.A1479V Missense 29/29 - 4
2-29416517-G-T c.4436C>A p.A1479E Missense 29/29 - 2
2-29416518-C-T c.4435G>A p.A1479T Missense 29/29 - 3
2-29416519-C-G c.4434G>C p.M1478I Missense 29/29 - 1
2-29416520-A-G c.4433T>C p.M1478T Missense 29/29 - 10
2-29416521-T-C c.4432A>G p.M1478V Missense 29/29 - 5
2-29416523-T-A c.4430A>T p.N1477I Missense 29/29 - 1
2-29416523-T-C c.4430A>G p.N1477S Missense 29/29 - 1
2-29416523-TT-GC c.4429_4430delinsGC p.N1477A Missense 29/29 - 1
2-29416525-C-T c.4428G>A p.V1476= Synonymous 29/29 - 1
2-29416526-A-G c.4427T>C p.V1476A Missense 29/29 - 2
2-29416527-C-G c.4426G>C p.V1476L Missense 29/29 - 1
2-29416527-C-T c.4426G>A p.V1476M Missense 29/29 - 7
2-29416528-G-A c.4425C>T p.H1475= Synonymous 29/29 - 5
2-29416528-G-C c.4425C>G p.H1475Q Missense 29/29 - 5
2-29416528-G-T c.4425C>A p.H1475Q Missense 29/29 - 10
2-29416531-T-C c.4422A>G p.G1474= Synonymous 29/29 - 1
2-29416532-C-T c.4421G>A p.G1474E Missense 29/29 - 3
2-29416534-C-G c.4419G>C p.G1473= Synonymous 29/29 - 1
2-29416535-C-T c.4418G>A p.G1473E Missense 29/29 - 2
2-29416536-C-G c.4417G>C p.G1473R Missense 29/29 - 3
2-29416536-C-T c.4417G>A p.G1473R Missense 29/29 - 4
2-29416537-T-A c.4416A>T p.E1472D Missense 29/29 - 2
2-29416537-T-G c.4416A>C p.E1472D Missense 29/29 - 1
2-29416539-C-A c.4414G>T p.E1472* Nonsense 29/29 - 1
2-29416539-C-T c.4414G>A p.E1472K Missense 29/29 - 1
2-29416540-C-T c.4413G>A p.V1471= Synonymous 29/29 - 1
2-29416541-CA-C c.4412del p.V1471Gfs*6 Frameshift 29/29 - 1
2-29416542-C-T c.4411G>A p.V1471M Missense 29/29 - 8
2-29416543-G-A c.4410C>T p.A1470= Synonymous 29/29 - 1
2-29416542-CG-C c.4410del p.V1471Wfs*6 Frameshift 29/29 - 1
2-29416544-G-A c.4409C>T p.A1470V Missense 29/29 - 6
2-29416546-C-T c.4407G>A p.P1469= Synonymous 29/29 - 2
2-29416547-G-A c.4406C>T p.P1469L Missense 29/29 - 3
2-29416547-G-T c.4406C>A p.P1469Q Missense 29/29 - 1
2-29416548-G-A c.4405C>T p.P1469S Missense 29/29 - 2
2-29416549-CCC-GCT c.4402_4404delinsAGC p.G1468S Missense 29/29 - 1
2-29416549-C-T c.4404G>A p.G1468= Synonymous 29/29 - 1
2-29416550-C-T c.4403G>A p.G1468E Missense 29/29 - 1
2-29416551-C-A c.4402G>T p.G1468W Missense 29/29 - 1
2-29416552-T-C c.4401A>G p.R1467= Synonymous 29/29 - 1
2-29416553-C-G c.4400G>C p.R1467T Missense 29/29 - 1
2-29416555-A-G c.4398T>C p.P1466= Synonymous 29/29 - 1
2-29416556-G-A c.4397C>T p.P1466L Missense 29/29 - 3
2-29416557-G-A c.4396C>T p.P1466S Missense 29/29 - 2
2-29416557-G-T c.4396C>A p.P1466T Missense 29/29 - 1
2-29416559-A-G c.4394T>C p.V1465A Missense 29/29 - 4
2-29416560-C-G c.4393G>C p.V1465L Missense 29/29 - 1
2-29416561-TC-AT c.4391_4392delinsAT p.R1464H Missense 29/29 - 1
2-29416562-C-G c.4391G>C p.R1464P Missense 29/29 - 5
2-29416562-C-T c.4391G>A p.R1464Q Missense 29/29 - 3
2-29416563-G-A c.4390C>T p.R1464* Nonsense 29/29 - 6
2-29416563-G-C c.4390C>G p.R1464G Missense 29/29 - 2
2-29416567-A-T c.4386T>A p.S1462= Synonymous 29/29 - 2
2-29416570-G-A c.4383C>T p.I1461= Synonymous 29/29 - 3
2-29416570-G-T c.4383C>A p.I1461= Synonymous 29/29 - 6
2-29416572-T-A c.4381A>T p.I1461F Missense 29/29 - 1
2-29416572-T-C c.4381A>G p.I1461V Missense 29/29 - 80
2-29416572-T-G c.4381A>C p.I1461L Missense 29/29 - 1
2-29416573-C-A c.4380G>T p.E1460D Missense 29/29 - 1
2-29416573-C-G c.4380G>C p.E1460D Missense 29/29 - 1
2-29416574-T-C c.4379A>G p.E1460G Missense 29/29 - 2
2-29416575-C-G c.4378G>C p.E1460Q Missense 29/29 - 3
2-29416575-C-T c.4378G>A p.E1460K Missense 29/29 - 3
2-29416576-T-A c.4377A>T p.A1459= Synonymous 29/29 - 2
2-29416578-C-A c.4375G>T p.A1459S Missense 29/29 - 3
2-29416578-C-CT c.4374_4375insA p.A1459Sfs*9 Frameshift 29/29 - 1
2-29416578-C-T c.4375G>A p.A1459T Missense 29/29 - 2
2-29416579-A-C c.4374T>G p.A1458= Synonymous 29/29 - 1
2-29416579-A-G c.4374T>C p.A1458= Synonymous 29/29 - 1
2-29416579-A-T c.4374T>A p.A1458= Synonymous 29/29 - 1
2-29416580-G-A c.4373C>T p.A1458V Missense 29/29 - 1
2-29416580-G-T c.4373C>A p.A1458D Missense 29/29 - 1
2-29416582-TGT-ACA c.4369_4371inv p.T1457C Missense 29/29 - 1
2-29416583-G-A c.4370C>T p.T1457I Missense 29/29 - 2
2-29416584-T-C c.4369A>G p.T1457A Missense 29/29 - 2
2-29416585-G-T c.4368C>A p.P1456= Synonymous 29/29 - 2
2-29416586-G-A c.4367C>T p.P1456L Missense 29/29 - 2
2-29416586-G-T c.4367C>A p.P1456H Missense 29/29 - 1
2-29416587-G-A c.4366C>T p.P1456S Missense 29/29 - 2
2-29416589-TT-GC c.4363_4364delinsGC p.K1455A Missense 29/29 - 1
2-29416591-C-A c.4362G>T p.K1454N Missense 29/29 - 1
2-29416591-C-G c.4362G>C p.K1454N Missense 29/29 - 2
2-29416591-C-T c.4362G>A p.K1454= Synonymous 29/29 - 1
2-29416592-T-C c.4361A>G p.K1454R Missense 29/29 - 1
2-29416592-T-TA c.4360_4361insT p.K1454Ifs*14 Frameshift 29/29 - 1
2-29416594-T-G c.4359A>C p.A1453= Synonymous 29/29 - 1
2-29416596-C-T c.4357G>A p.A1453T Missense 29/29 - 2
2-29416598-G-A c.4355C>T p.A1452V Missense 29/29 - 2
2-29416599-C-T c.4354G>A p.A1452T Missense 29/29 - 1
2-29416601-TT-GC c.4351_4352delinsGC p.K1451A Missense 29/29 - 1
2-29416604-C-G c.4349G>C p.G1450A Missense 29/29 - 2
2-29416605-C-T c.4348G>A p.G1450S Missense 29/29 - 2
2-29416606-A-G c.4347T>C p.S1449= Synonymous 29/29 - 1
2-29416607-G-T c.4346C>A p.S1449Y Missense 29/29 - 4
2-29416609-G-A c.4344C>T p.S1448= Synonymous 29/29 - 2
2-29416610-G-A c.4343C>T p.S1448F Missense 29/29 - 1
2-29416612-G-A c.4341C>T p.T1447= Synonymous 29/29 - 1
2-29416613-G-A c.4340C>T p.T1447I Missense 29/29 - 2
2-29416615-G-A c.4338C>T p.T1446= Synonymous 29/29 - 21
2-29416615-G-C c.4338C>G p.T1446= Synonymous 29/29 - 3
2-29416615-G-T c.4338C>A p.T1446= Synonymous 29/29 - 3
2-29416616-G-A c.4337C>T p.T1446I Missense 29/29 - 2
2-29416611-AGGTGGTAGGCAGAGGT-A c.4326_4341del p.P1445Afs*27 Frameshift 29/29 - 1
2-29416617-T-G c.4336A>C p.T1446P Missense 29/29 - 1
2-29416618-A-T c.4335T>A p.P1445= Synonymous 29/29 - 1
2-29416618-TA-T c.4335del p.T1446Pfs*31 Frameshift 29/29 - 1
2-29416619-G-T c.4334C>A p.P1445H Missense 29/29 - 5
2-29416620-G-A c.4333C>T p.P1445S Missense 29/29 - 1
2-29416621-C-A c.4332G>T p.L1444= Synonymous 29/29 - 1
2-29416621-C-G c.4332G>C p.L1444= Synonymous 29/29 - 1
2-29416621-C-T c.4332G>A p.L1444= Synonymous 29/29 - 2
2-29416623-G-A c.4330C>T p.L1444= Synonymous 29/29 - 1
2-29416625-G-A c.4328C>T p.P1443L Missense 29/29 - 1
2-29416625-G-C c.4328C>G p.P1443R Missense 29/29 - 1
2-29416625-G-GT c.4327_4328insA p.P1443Hfs*25 Frameshift 29/29 - 1
2-29416626-G-A c.4327C>T p.P1443S Missense 29/29 - 1
2-29416626-G-C c.4327C>G p.P1443A Missense 29/29 - 1
2-29416628-G-C c.4325C>G p.P1442R Missense 29/29 - 1
2-29416628-G-T c.4325C>A p.P1442Q Missense 29/29 - 2
2-29416629-G-A c.4324C>T p.P1442S Missense 29/29 - 1
2-29416629-G-C c.4324C>G p.P1442A Missense 29/29 - 1
2-29416629-G-T c.4324C>A p.P1442T Missense 29/29 - 1
2-29416631-G-A c.4322C>T p.P1441L Missense 29/29 - 1
2-29416633-G-T c.4320C>A p.A1440= Synonymous 29/29 - 1
2-29416630-TG-T c.4322del p.P1441Hfs*36 Frameshift 29/29 - 1
2-29416634-G-A c.4319C>T p.A1440V Missense 29/29 - 5
2-29416635-C-G c.4318G>C p.A1440P Missense 29/29 - 1
2-29416635-C-T c.4318G>A p.A1440T Missense 29/29 - 2
2-29416637-G-A c.4316C>T p.A1439V Missense 29/29 - 1
2-29416637-G-GGT c.4315_4316insAC p.A1439Dfs*39 Frameshift 29/29 - 1
2-29416637-G-T c.4316C>A p.A1439D Missense 29/29 - 2
2-29416638-C-A c.4315G>T p.A1439S Missense 29/29 - 1
2-29416640-G-A c.4313C>T p.P1438L Missense 29/29 - 1
2-29416641-G-A c.4312C>T p.P1438S Missense 29/29 - 2
2-29416641-G-T c.4312C>A p.P1438T Missense 29/29 - 1
2-29416642-G-A c.4311C>T p.S1437= Synonymous 29/29 - 1
2-29416642-G-T c.4311C>A p.S1437R Missense 29/29 - 1
2-29416645-TGCG-T c.4306_4308del p.R1436del InFrameDeletion 29/29 - 1
2-29416646-C-T c.4307G>A p.R1436H Missense 29/29 - 8
2-29416647-G-A c.4306C>T p.R1436C Missense 29/29 - 12
2-29416647-G-T c.4306C>A p.R1436S Missense 29/29 - 1
2-29416648-C-G c.4305G>C p.E1435D Missense 29/29 - 1
2-29416649-T-A c.4304A>T p.E1435V Missense 29/29 - 3
2-29416650-C-G c.4303G>C p.E1435Q Missense 29/29 - 2
2-29416650-C-T c.4303G>A p.E1435K Missense 29/29 - 3
2-29416651-C-A c.4302G>T p.E1434D Missense 29/29 - 1
2-29416651-C-G c.4302G>C p.E1434D Missense 29/29 - 1
2-29416651-C-T c.4302G>A p.E1434= Synonymous 29/29 - 1
2-29416652-T-A c.4301A>T p.E1434V Missense 29/29 - 2
2-29416653-C-A c.4300G>T p.E1434* Nonsense 29/29 - 1
2-29416653-C-G c.4300G>C p.E1434Q Missense 29/29 - 1
2-29416653-C-T c.4300G>A p.E1434K Missense 29/29 - 2
2-29416654-C-T c.4299G>A p.E1433= Synonymous 29/29 - 1
2-29416647-GCTC-G c.4303_4305del p.E1435del InFrameDeletion 29/29 - 10
2-29416656-C-G c.4297G>C p.E1433Q Missense 29/29 - 1
2-29416656-C-T c.4297G>A p.E1433K Missense 29/29 - 2
2-29416658-C-G c.4295G>C p.R1432P Missense 29/29 - 1
2-29416658-CG-TA c.4294_4295delinsTA p.R1432* Nonsense 29/29 - 2
2-29416658-C-T c.4295G>A p.R1432Q Missense 29/29 - 3
2-29416659-G-A c.4294C>T p.R1432W Missense 29/29 - 4
2-29416659-G-C c.4294C>G p.R1432G Missense 29/29 - 1
2-29416660-T-C c.4293A>G p.K1431= Synonymous 29/29 - 1
2-29416661-T-C c.4292A>G p.K1431R Missense 29/29 - 1
2-29416661-T-G c.4292A>C p.K1431T Missense 29/29 - 1
2-29416666-C-T c.4287G>A p.Q1429= Synonymous 29/29 - 2
2-29416667-T-C c.4286A>G p.Q1429R Missense 29/29 - 8
2-29416667-T-G c.4286A>C p.Q1429P Missense 29/29 - 2
2-29416668-G-A c.4285C>T p.Q1429* Nonsense 29/29 - 3
2-29416671-G-A c.4282C>T p.Q1428* Nonsense 29/29 - 4
2-29416672-A-G c.4281T>C p.S1427= Synonymous 29/29 - 1
2-29416673-G-A c.4280C>T p.S1427F Missense 29/29 - 1
2-29416678-C-A c.4275G>T p.L1425= Synonymous 29/29 - 1
2-29416678-C-G c.4275G>C p.L1425= Synonymous 29/29 - 1
2-29416678-C-T c.4275G>A p.L1425= Synonymous 29/29 - 2
2-29416680-G-A c.4273C>T p.L1425= Synonymous 29/29 - 1
2-29416679-A-G c.4274T>C p.L1425P Missense 29/29 - 1
2-29416681-G-A c.4272C>T p.L1424= Synonymous 29/29 - 2
2-29416681-G-C c.4272C>G p.L1424= Synonymous 29/29 - 2
2-29416681-G-T c.4272C>A p.L1424= Synonymous 29/29 - 2
2-29416682-A-G c.4271T>C p.L1424P Missense 29/29 - 1
2-29416682-AG-CT c.4270_4271inv p.L1424S Missense 29/29 - 1
2-29416683-G-A c.4270C>T p.L1424F Missense 29/29 - 1
2-29416683-G-T c.4270C>A p.L1424I Missense 29/29 - 3
2-29416686-G-A c.4267C>T p.P1423S Missense 29/29 - 1
2-29416689-G-A c.4264C>T p.P1422S Missense 29/29 - 1
2-29416692-C-A c.4261G>T p.V1421F Missense 29/29 - 1
2-29416692-C-T c.4261G>A p.V1421I Missense 29/29 - 1
2-29416693-C-A c.4260G>T p.G1420= Synonymous 29/29 - 1
2-29416693-C-G c.4260G>C p.G1420= Synonymous 29/29 - 1
2-29416693-C-T c.4260G>A p.G1420= Synonymous 29/29 - 1
2-29416694-CC-TT c.4258_4259delinsAA p.G1420K Missense 29/29 - 1
2-29416694-C-G c.4259G>C p.G1420A Missense 29/29 - 2
2-29416694-C-T c.4259G>A p.G1420E Missense 29/29 - 1
2-29416696-C-A c.4257G>T p.E1419D Missense 29/29 - 1
2-29416696-C-G c.4257G>C p.E1419D Missense 29/29 - 1
2-29416698-C-A c.4255G>T p.E1419* Nonsense 29/29 - 1
2-29416698-C-G c.4255G>C p.E1419Q Missense 29/29 - 3
2-29416698-C-T c.4255G>A p.E1419K Missense 29/29 - 17
2-29416700-G-A c.4253C>T p.P1418L Missense 29/29 - 3
2-29416700-G-T c.4253C>A p.P1418H Missense 29/29 - 3
2-29416701-G-C c.4252C>G p.P1418A Missense 29/29 - 1
2-29416703-T-G c.4250A>C p.D1417A Missense 29/29 - 1
2-29416704-C-G c.4249G>C p.D1417H Missense 29/29 - 1
2-29416704-C-T c.4249G>A p.D1417N Missense 29/29 - 2
2-29416705-C-A c.4248G>T p.K1416N Missense 29/29 - 7
2-29416705-C-G c.4248G>C p.K1416N Missense 29/29 - 6
2-29416705-C-T c.4248G>A p.K1416= Synonymous 29/29 - 1
2-29416707-T-C c.4246A>G p.K1416E Missense 29/29 - 1
2-29416709-G-A c.4244C>T p.P1415L Missense 29/29 - 1
2-29416710-G-A c.4243C>T p.P1415S Missense 29/29 - 1
2-29416711-C-T c.4242G>A p.R1414= Synonymous 29/29 - 1
2-29416712-C-A c.4241G>T p.R1414M Missense 29/29 - 1
2-29416712-C-G c.4241G>C p.R1414T Missense 29/29 - 2
2-29416712-C-T c.4241G>A p.R1414K Missense 29/29 - 5
2-29416714-CAC-GAT c.4237_4239delinsATC p.V1413I Missense 29/29 - 1
2-29416716-C-A c.4237G>T p.V1413L Missense 29/29 - 4
2-29416716-C-G c.4237G>C p.V1413L Missense 29/29 - 3
2-29416718-G-A c.4235C>T p.P1412L Missense 29/29 - 1
2-29416719-G-A c.4234C>T p.P1412S Missense 29/29 - 1
2-29416720-C-A c.4233G>T p.V1411= Synonymous 29/29 - 1
2-29416720-C-G c.4233G>C p.V1411= Synonymous 29/29 - 1
2-29416720-C-T c.4233G>A p.V1411= Synonymous 29/29 - 1
2-29416721-A-G c.4232T>C p.V1411A Missense 29/29 - 1
2-29416722-C-A c.4231G>T p.V1411L Missense 29/29 - 2
2-29416722-C-G c.4231G>C p.V1411L Missense 29/29 - 2
2-29416725-T-C c.4228A>G p.K1410E Missense 29/29 - 1
2-29416726-C-A c.4227G>T p.E1409D Missense 29/29 - 5
2-29416726-C-G c.4227G>C p.E1409D Missense 29/29 - 8
2-29416728-C-A c.4225G>T p.E1409* Nonsense 29/29 - 1
2-29416728-C-G c.4225G>C p.E1409Q Missense 29/29 - 2
2-29416728-C-T c.4225G>A p.E1409K Missense 29/29 - 1
2-29416730-T-A c.4223A>T p.E1408V Missense 29/29 - 2
2-29416730-TC-AG c.4222_4223delinsCT p.E1408L Missense 29/29 - 1
2-29416731-C-A c.4222G>T p.E1408* Nonsense 29/29 - 1
2-29416731-C-T c.4222G>A p.E1408K Missense 29/29 - 4
2-29416732-C-A c.4221G>T p.E1407D Missense 29/29 - 1
2-29416732-C-T c.4221G>A p.E1407= Synonymous 29/29 - 3
2-29416734-C-G c.4219G>C p.E1407Q Missense 29/29 - 1
2-29416734-C-T c.4219G>A p.E1407K Missense 29/29 - 7
2-29416737-C-G c.4216G>C p.E1406Q Missense 29/29 - 2
2-29416737-C-T c.4216G>A p.E1406K Missense 29/29 - 4
2-29416738-CAC-GAT c.4213_4215delinsATC p.V1405I Missense 29/29 - 1
2-29416739-A-G c.4214T>C p.V1405A Missense 29/29 - 1
2-29416742-A-G c.4211T>C p.L1404P Missense 29/29 - 2
2-29416743-G-A c.4210C>T p.L1404F Missense 29/29 - 1
2-29416743-G-C c.4210C>G p.L1404V Missense 29/29 - 3
2-29416749-C-T c.4204G>A p.G1402S Missense 29/29 - 2
2-29416750-A-G c.4203T>C p.Y1401= Synonymous 29/29 - 1
2-29416753-T-A c.4200A>T p.E1400D Missense 29/29 - 4
2-29416753-T-C c.4200A>G p.E1400= Synonymous 29/29 - 2
2-29416753-T-G c.4200A>C p.E1400D Missense 29/29 - 9
2-29416752-A-AT c.4200dup p.Y1401Ifs*19 Frameshift 29/29 - 1
2-29416755-C-G c.4198G>C p.E1400Q Missense 29/29 - 2
2-29416757-A-G c.4196T>C p.I1399T Missense 29/29 - 4
2-29416758-T-C c.4195A>G p.I1399V Missense 29/29 - 1
2-29416759-C-A c.4194G>T p.P1398= Synonymous 29/29 - 3
2-29416759-C-CT c.4193_4194insA p.I1399Dfs*21 Frameshift 29/29 - 1
2-29416759-C-G c.4194G>C p.P1398= Synonymous 29/29 - 3
2-29416759-C-T c.4194G>A p.P1398= Synonymous 29/29 - 5
2-29416760-G-A c.4193C>T p.P1398L Missense 29/29 - 9
2-29416761-G-A c.4192C>T p.P1398S Missense 29/29 - 2
2-29416763-A-G c.4190T>C p.L1397S Missense 29/29 - 1
2-29416765-A-C c.4188T>G p.A1396= Synonymous 29/29 - 1
2-29416765-A-G c.4188T>C p.A1396= Synonymous 29/29 - 1
2-29416765-A-T c.4188T>A p.A1396= Synonymous 29/29 - 1
2-29416766-G-A c.4187C>T p.A1396V Missense 29/29 - 2
2-29416767-C-A c.4186G>T p.A1396S Missense 29/29 - 1
2-29416767-C-T c.4186G>A p.A1396T Missense 29/29 - 6
2-29416768-G-A c.4185C>T p.T1395= Synonymous 29/29 - 3
2-29416769-G-A c.4184C>T p.T1395I Missense 29/29 - 1
2-29416769-G-C c.4184C>G p.T1395S Missense 29/29 - 5
2-29416770-T-A c.4183A>T p.T1395S Missense 29/29 - 5
2-29416770-T-C c.4183A>G p.T1395A Missense 29/29 - 1
2-29416772-T-A c.4181A>T p.N1394I Missense 29/29 - 1
2-29416773-T-G c.4180A>C p.N1394H Missense 29/29 - 1
2-29416774-G-C c.4179C>G p.I1393M Missense 29/29 - 1
2-29416775-A-G c.4178T>C p.I1393T Missense 29/29 - 2
2-29416779-C-A c.4174G>T p.V1392L Missense 29/29 - 1
2-29416779-C-G c.4174G>C p.V1392L Missense 29/29 - 1
2-29416780-A-C c.4173T>G p.D1391E Missense 29/29 - 1
2-29416780-A-T c.4173T>A p.D1391E Missense 29/29 - 1
2-29416781-T-A c.4172A>T p.D1391V Missense 29/29 - 1
2-29416784-G-A c.4169C>T p.P1390L Missense 29/29 - 4
2-29416785-G-C c.4168C>G p.P1390A Missense 29/29 - 1
2-29416794-G-A c.4165-6C>T - IntronicSNV - 28/28 13
2-29416824-A-T c.4165-36T>A - IntronicSNV - 28/28 1
2-29416833-A-G c.4165-45T>C - IntronicSNV - 28/28 2
2-29416900-G-T c.4165-112C>A - IntronicSNV - 28/28 1
2-29416946-T-A c.4165-158A>T - IntronicSNV - 28/28 4
2-29416946-T-C c.4165-158A>G - IntronicSNV - 28/28 4
2-29417025-G-C c.4165-237C>G - IntronicSNV - 28/28 1
2-29417204-G-A c.4165-416C>T - IntronicSNV - 28/28 1
2-29417204-G-C c.4165-416C>G - IntronicSNV - 28/28 1
2-29417301-T-G c.4165-513A>C - IntronicSNV - 28/28 1
2-29417395-T-G c.4165-607A>C - IntronicSNV - 28/28 1
2-29417782-C-G c.4165-994G>C - IntronicSNV - 28/28 1
2-29417782-C-T c.4165-994G>A - IntronicSNV - 28/28 1
2-29417948-C-G c.4165-1160G>C - IntronicSNV - 28/28 1
2-29418314-G-A c.4164+1322C>T - IntronicSNV - 28/28 1
2-29418443-C-CA c.4164+1192dup - IntronicInsertion - 28/28 1
2-29418477-T-C c.4164+1159A>G - IntronicSNV - 28/28 1
2-29418587-C-T c.4164+1049G>A - IntronicSNV - 28/28 1
2-29418672-C-A c.4164+964G>T - IntronicSNV - 28/28 1
2-29418672-C-T c.4164+964G>A - IntronicSNV - 28/28 1
2-29418723-C-T c.4164+913G>A - IntronicSNV - 28/28 1
2-29418844-C-G c.4164+792G>C - IntronicSNV - 28/28 1
2-29418844-C-T c.4164+792G>A - IntronicSNV - 28/28 1
2-29419191-T-G c.4164+445A>C - IntronicSNV - 28/28 1
2-29419413-T-C c.4164+223A>G - IntronicSNV - 28/28 3
2-29419438-T-C c.4164+198A>G - IntronicSNV - 28/28 1
2-29419473-A-G c.4164+163T>C - IntronicSNV - 28/28 1
2-29419591-G-T c.4164+45C>A - IntronicSNV - 28/28 14
2-29419599-T-C c.4164+37A>G - IntronicSNV - 28/28 1
2-29419620-G-A c.4164+16C>T - IntronicSNV - 28/28 1
2-29419621-G-A c.4164+15C>T - IntronicSNV - 28/28 1
2-29419624-A-G c.4164+12T>C - IntronicSNV - 28/28 1
2-29419636-C-A c.4164G>T p.Q1388H Missense 28/29 - 1
2-29419636-C-G c.4164G>C p.Q1388H Missense 28/29 - 4
2-29419636-C-T c.4164G>A p.Q1388= Synonymous 28/29 - 1
2-29419637-CT-C c.4163del p.Q1388Rfs*5 Frameshift 28/29 - 1
2-29419638-G-T c.4162C>A p.Q1388K Missense 28/29 - 1
2-29419639-G-A c.4161C>T p.T1387= Synonymous 28/29 - 2
2-29419639-G-C c.4161C>G p.T1387= Synonymous 28/29 - 2
2-29419639-G-T c.4161C>A p.T1387= Synonymous 28/29 - 2
2-29419643-CA-GT c.4156_4157delinsAC p.C1386T Missense 28/29 - 1
2-29419643-C-T c.4157G>A p.C1386Y Missense 28/29 - 1
2-29419645-G-A c.4155C>T p.Y1385= Synonymous 28/29 - 3
2-29419646-T-C c.4154A>G p.Y1385C Missense 28/29 - 1
2-29419650-C-T c.4150G>A p.E1384K Missense 28/29 - 11
2-29419653-T-A c.4147A>T p.I1383F Missense 28/29 - 1
2-29419654-C-G c.4146G>C p.R1382S Missense 28/29 - 1
2-29419654-C-T c.4146G>A p.R1382= Synonymous 28/29 - 1
2-29419655-C-A c.4145G>T p.R1382M Missense 28/29 - 1
2-29419655-C-G c.4145G>C p.R1382T Missense 28/29 - 2
2-29419657-C-A c.4143G>T p.E1381D Missense 28/29 - 1
2-29419657-C-G c.4143G>C p.E1381D Missense 28/29 - 1
2-29419658-T-A c.4142A>T p.E1381V Missense 28/29 - 1
2-29419662-A-C c.4138T>G p.L1380V Missense 28/29 - 3
2-29419663-A-G c.4137T>C p.I1379= Synonymous 28/29 - 1
2-29419664-A-G c.4136T>C p.I1379T Missense 28/29 - 2
2-29419666-G-T c.4134C>A p.I1378= Synonymous 28/29 - 1
2-29419667-A-C c.4133T>G p.I1378S Missense 28/29 - 2
2-29419667-A-G c.4133T>C p.I1378T Missense 28/29 - 1
2-29419668-T-G c.4132A>C p.I1378L Missense 28/29 - 1
2-29419669-G-A c.4131C>T p.A1377= Synonymous 28/29 - 1
2-29419670-G-A c.4130C>T p.A1377V Missense 28/29 - 1
2-29419670-G-T c.4130C>A p.A1377D Missense 28/29 - 3
2-29419673-A-G c.4127T>C p.F1376S Missense 28/29 - 5
2-29419675-G-C c.4125C>G p.N1375K Missense 28/29 - 1
2-29419675-G-T c.4125C>A p.N1375K Missense 28/29 - 1
2-29419678-G-A c.4122C>T p.P1374= Synonymous 28/29 - 1
2-29419679-G-T c.4121C>A p.P1374H Missense 28/29 - 1
2-29419677-TG-T c.4122del p.N1375Tfs*18 Frameshift 28/29 - 1
2-29419681-C-G c.4119G>C p.R1373S Missense 28/29 - 1
2-29419681-C-T c.4119G>A p.R1373= Synonymous 28/29 - 1
2-29419683-T-G c.4117A>C p.R1373= Synonymous 28/29 - 1
2-29419682-C-G c.4118G>C p.R1373T Missense 28/29 - 1
2-29419683-T-A c.4117A>T p.R1373W Missense 28/29 - 1
2-29419685-T-G c.4115A>C p.D1372A Missense 28/29 - 1
2-29419686-C-T c.4114G>A p.D1372N Missense 28/29 - 1
2-29419687-T-A c.4113A>T p.E1371D Missense 28/29 - 1
2-29419687-T-G c.4113A>C p.E1371D Missense 28/29 - 1
2-29419688-T-C c.4112A>G p.E1371G Missense 28/29 - 1
2-29419689-C-T c.4111G>A p.E1371K Missense 28/29 - 4
2-29419691-G-C c.4109C>G p.P1370R Missense 28/29 - 1
2-29419690-AG-A c.4109del p.P1370Lfs*23 Frameshift 28/29 - 1
2-29419694-T-A c.4106A>T p.Q1369L Missense 28/29 - 1
2-29419695-G-A c.4105C>T p.Q1369* Nonsense 28/29 - 2
2-29419701-G-A c.4099C>T p.Q1367* Nonsense 28/29 - 2
2-29419701-G-T c.4099C>A p.Q1367K Missense 28/29 - 2
2-29419702-C-T c.4098G>A p.W1366* Nonsense 28/29 - 1
2-29419703-C-A c.4097G>T p.W1366L Missense 28/29 - 1
2-29419703-C-T c.4097G>A p.W1366* Nonsense 28/29 - 1
2-29419706-CA-GT c.4093_4094delinsAC p.C1365T Missense 28/29 - 1
2-29419706-C-T c.4094G>A p.C1365Y Missense 28/29 - 1
2-29419707-A-G c.4093T>C p.C1365R Missense 28/29 - 1
2-29419708-C-G c.4092G>C p.Q1364H Missense 28/29 - 1
2-29419709-T-G c.4091A>C p.Q1364P Missense 28/29 - 3
2-29419712-G-A c.4088C>T p.T1363I Missense 28/29 - 1
2-29419714-C-A c.4086G>T p.M1362I Missense 28/29 - 3
2-29419714-C-G c.4086G>C p.M1362I Missense 28/29 - 3
2-29419714-C-T c.4086G>A p.M1362I Missense 28/29 - 3
2-29419719-T-A c.4081A>T p.I1361L Missense 28/29 - 1
2-29419719-T-C c.4081A>G p.I1361V Missense 28/29 - 2
2-29419721-C-T c.4079G>A p.R1360Q Missense 28/29 - 5
2-29419720-C-T c.4080G>A p.R1360= Synonymous 28/29 - 1
2-29419722-G-A c.4078C>T p.R1360W Missense 28/29 - 2
2-29419723-G-A c.4077C>T p.Y1359= Synonymous 28/29 - 1
2-29419724-T-C c.4076A>G p.Y1359C Missense 28/29 - 3
2-29420148-G-A c.4073+260C>T - IntronicSNV - 27/28 1
2-29420148-G-T c.4073+260C>A - IntronicSNV - 27/28 1
2-29420253-T-A c.4073+155A>T - IntronicSNV - 27/28 1
2-29420264-G-A c.4073+144C>T - IntronicSNV - 27/28 1
2-29420295-AG-A c.4073+112del - IntronicDeletion - 27/28 1
2-29420315-C-T c.4073+93G>A - IntronicSNV - 27/28 5
2-29420408-A-G c.4073T>C p.V1358A Missense 27/29 - 3
2-29420409-C-T c.4072G>A p.V1358I Missense 27/29 - 3
2-29420411-G-A c.4070C>T p.P1357L Missense 27/29 - 2
2-29420411-G-T c.4070C>A p.P1357H Missense 27/29 - 3
2-29420413-CCC-GCT c.4066_4068delinsAGC p.G1356S Missense 27/29 - 1
2-29420416-A-G c.4065T>C p.P1355= Synonymous 27/29 - 2
2-29420417-G-A c.4064C>T p.P1355L Missense 27/29 - 2
2-29420418-G-T c.4063C>A p.P1355T Missense 27/29 - 1
2-29420419-G-A c.4062C>T p.C1354= Synonymous 27/29 - 2
2-29420420-C-A c.4061G>T p.C1354F Missense 27/29 - 1
2-29420420-C-T c.4061G>A p.C1354Y Missense 27/29 - 1
2-29420422-G-C c.4059C>G p.N1353K Missense 27/29 - 1
2-29420422-G-T c.4059C>A p.N1353K Missense 27/29 - 1
2-29420423-T-C c.4058A>G p.N1353S Missense 27/29 - 2
2-29420425-C-A c.4056G>T p.K1352N Missense 27/29 - 5
2-29420425-C-G c.4056G>C p.K1352N Missense 27/29 - 6
2-29420425-C-T c.4056G>A p.K1352= Synonymous 27/29 - 1
2-29420427-T-A c.4054A>T p.K1352* Nonsense 27/29 - 1
2-29420427-T-C c.4054A>G p.K1352E Missense 27/29 - 1
2-29420429-G-A c.4052C>T p.P1351L Missense 27/29 - 2
2-29420431-T-A c.4050A>T p.P1350= Synonymous 27/29 - 1
2-29420431-T-C c.4050A>G p.P1350= Synonymous 27/29 - 1
2-29420431-T-G c.4050A>C p.P1350= Synonymous 27/29 - 1
2-29420432-G-A c.4049C>T p.P1350L Missense 27/29 - 1
2-29420432-G-T c.4049C>A p.P1350Q Missense 27/29 - 2
2-29420433-G-T c.4048C>A p.P1350T Missense 27/29 - 3
2-29420435-T-A c.4046A>T p.D1349V Missense 27/29 - 1
2-29420435-T-C c.4046A>G p.D1349G Missense 27/29 - 1
2-29420436-C-G c.4045G>C p.D1349H Missense 27/29 - 6
2-29420436-C-T c.4045G>A p.D1349N Missense 27/29 - 5
2-29420438-A-G c.4043T>C p.M1348T Missense 27/29 - 2
2-29420440-CC-AT c.4040_4041delinsAT p.R1347H Missense 27/29 - 1
2-29420441-CG-AT c.4039_4040delinsAT p.R1347M Missense 27/29 - 1
2-29420441-C-T c.4040G>A p.R1347Q Missense 27/29 - 6
2-29420442-G-C c.4039C>G p.R1347G Missense 27/29 - 2
2-29420443-G-A c.4038C>T p.G1346= Synonymous 27/29 - 1
2-29420445-C-T c.4036G>A p.G1346S Missense 27/29 - 2
2-29420447-C-G c.4034G>C p.G1345A Missense 27/29 - 2
2-29420448-C-T c.4033G>A p.G1345R Missense 27/29 - 1
2-29420449-ACT-TCA c.4030_4032delinsTGA p.S1344* Nonsense 27/29 - 1
2-29420450-CT-AA c.4030_4031delinsTT p.S1344F Missense 27/29 - 1
2-29420451-T-C c.4030A>G p.S1344G Missense 27/29 - 2
2-29420453-G-A c.4028C>T p.T1343I Missense 27/29 - 9
2-29420453-G-C c.4028C>G p.T1343S Missense 27/29 - 2
2-29420455-G-A c.4026C>T p.V1342= Synonymous 27/29 - 1
2-29420456-A-T c.4025T>A p.V1342D Missense 27/29 - 1
2-29420457-C-T c.4024G>A p.V1342I Missense 27/29 - 4
2-29420460-A-T c.4021T>A p.F1341I Missense 27/29 - 1
2-29420462-T-A c.4019A>T p.E1340V Missense 27/29 - 3
2-29420462-T-C c.4019A>G p.E1340G Missense 27/29 - 1
2-29420463-C-T c.4018G>A p.E1340K Missense 27/29 - 4
2-29420464-C-A c.4017G>T p.L1339= Synonymous 27/29 - 1
2-29420464-C-G c.4017G>C p.L1339= Synonymous 27/29 - 1
2-29420464-C-T c.4017G>A p.L1339= Synonymous 27/29 - 1
2-29420466-G-A c.4015C>T p.L1339= Synonymous 27/29 - 1
2-29420465-A-G c.4016T>C p.L1339P Missense 27/29 - 2
2-29420466-G-C c.4015C>G p.L1339V Missense 27/29 - 2
2-29420466-G-T c.4015C>A p.L1339M Missense 27/29 - 1
2-29420469-C-A c.4012G>T p.V1338F Missense 27/29 - 1
2-29420469-C-G c.4012G>C p.V1338L Missense 27/29 - 1
2-29420471-T-C c.4010A>G p.E1337G Missense 27/29 - 1
2-29420472-C-A c.4009G>T p.E1337* Nonsense 27/29 - 1
2-29420472-C-G c.4009G>C p.E1337Q Missense 27/29 - 2
2-29420472-C-T c.4009G>A p.E1337K Missense 27/29 - 2
2-29420473-C-A c.4008G>T p.Q1336H Missense 27/29 - 3
2-29420473-C-G c.4008G>C p.Q1336H Missense 27/29 - 4
2-29420475-G-A c.4006C>T p.Q1336* Nonsense 27/29 - 3
2-29420479-G-C c.4002C>G p.S1334R Missense 27/29 - 1
2-29420479-G-T c.4002C>A p.S1334R Missense 27/29 - 1
2-29420481-T-G c.4000A>C p.S1334R Missense 27/29 - 1
2-29420482-T-A c.3999A>T p.K1333N Missense 27/29 - 1
2-29420482-T-G c.3999A>C p.K1333N Missense 27/29 - 2
2-29420483-T-A c.3998A>T p.K1333I Missense 27/29 - 1
2-29420483-T-C c.3998A>G p.K1333R Missense 27/29 - 2
2-29420484-T-C c.3997A>G p.K1333E Missense 27/29 - 1
2-29420489-G-A c.3992C>T p.P1331L Missense 27/29 - 1
2-29420492-T-C c.3989A>G p.Y1330C Missense 27/29 - 2
2-29420493-A-G c.3988T>C p.Y1330H Missense 27/29 - 1
2-29420494-T-C c.3987A>G p.P1329= Synonymous 27/29 - 1
2-29420494-TG-AT c.3986_3987delinsAT p.P1329H Missense 27/29 - 1
2-29420495-G-A c.3986C>T p.P1329L Missense 27/29 - 1
2-29420496-G-T c.3985C>A p.P1329T Missense 27/29 - 1
2-29420497-C-A c.3984G>T p.M1328I Missense 27/29 - 6
2-29420497-C-G c.3984G>C p.M1328I Missense 27/29 - 5
2-29420497-C-T c.3984G>A p.M1328I Missense 27/29 - 6
2-29420499-T-A c.3982A>T p.M1328L Missense 27/29 - 5
2-29420499-T-C c.3982A>G p.M1328V Missense 27/29 - 1
2-29420499-T-G c.3982A>C p.M1328L Missense 27/29 - 4
2-29420501-T-A c.3980A>T p.Y1327F Missense 27/29 - 1
2-29420501-T-C c.3980A>G p.Y1327C Missense 27/29 - 3
2-29420504-C-G c.3977G>C p.G1326A Missense 27/29 - 1
2-29420505-C-A c.3976G>T p.G1326* Nonsense 27/29 - 1
2-29420508-G-A c.3973C>T p.L1325F Missense 27/29 - 1
2-29420508-G-T c.3973C>A p.L1325I Missense 27/29 - 1
2-29420510-G-A c.3971C>T p.S1324F Missense 27/29 - 8
2-29420510-G-C c.3971C>G p.S1324C Missense 27/29 - 3
2-29420510-G-T c.3971C>A p.S1324Y Missense 27/29 - 5
2-29420513-A-G c.3968T>C p.F1323S Missense 27/29 - 1
2-29420512-A-C c.3969T>G p.F1323L Missense 27/29 - 2
2-29420512-A-T c.3969T>A p.F1323L Missense 27/29 - 2
2-29420514-A-G c.3967T>C p.F1323L Missense 27/29 - 2
2-29420515-G-A c.3966C>T p.I1322= Synonymous 27/29 - 1
2-29420515-G-C c.3966C>G p.I1322M Missense 27/29 - 1
2-29420515-G-T c.3966C>A p.I1322= Synonymous 27/29 - 3
2-29420516-A-G c.3965T>C p.I1322T Missense 27/29 - 1
2-29420520-C-A c.3961G>T p.E1321* Nonsense 27/29 - 1
2-29420520-C-T c.3961G>A p.E1321K Missense 27/29 - 2
2-29420521-C-A c.3960G>T p.W1320C Missense 27/29 - 1
2-29420521-C-G c.3960G>C p.W1320C Missense 27/29 - 1
2-29420521-C-T c.3960G>A p.W1320* Nonsense 27/29 - 2
2-29420523-A-G c.3958T>C p.W1320R Missense 27/29 - 4
2-29420523-A-T c.3958T>A p.W1320R Missense 27/29 - 3
2-29420526-G-C c.3955C>G p.L1319V Missense 27/29 - 1
2-29420526-G-T c.3955C>A p.L1319I Missense 27/29 - 1
2-29420524-TAGC-T c.3954_3956del p.L1319del InFrameDeletion 27/29 - 1
2-29420529-G-T c.3952C>A p.L1318M Missense 27/29 - 6
2-29420532-C-A c.3949G>T p.V1317L Missense 27/29 - 1
2-29420532-C-G c.3949G>C p.V1317L Missense 27/29 - 1
2-29420534-C-G c.3947G>C p.G1316A Missense 27/29 - 1
2-29420534-C-T c.3947G>A p.G1316E Missense 27/29 - 2
2-29420539-G-A c.3942C>T p.S1314= Synonymous 27/29 - 3
2-29420540-G-C c.3941C>G p.S1314C Missense 27/29 - 1
2-29420542-C-A c.3939G>T p.W1313C Missense 27/29 - 1
2-29420542-C-G c.3939G>C p.W1313C Missense 27/29 - 1
2-29420550-T-C c.3939-8A>G - IntronicSNV - 26/28 7
2-29421017-G-T c.3939-475C>A - IntronicSNV - 26/28 1
2-29421188-T-C c.3939-646A>G - IntronicSNV - 26/28 1
2-29421497-G-A c.3939-955C>T - IntronicSNV - 26/28 1
2-29421637-C-T c.3939-1095G>A - IntronicSNV - 26/28 1
2-29421688-T-C c.3939-1146A>G - IntronicSNV - 26/28 1
2-29421982-G-A c.3939-1440C>T - IntronicSNV - 26/28 1
2-29422016-C-T c.3939-1474G>A - IntronicSNV - 26/28 1
2-29422072-G-A c.3939-1530C>T - IntronicSNV - 26/28 1
2-29422072-G-C c.3939-1530C>G - IntronicSNV - 26/28 1
2-29422726-A-G c.3939-2184T>C - IntronicSNV - 26/28 1
2-29423028-G-A c.3939-2486C>T - IntronicSNV - 26/28 1
2-29423709-G-A c.3939-3167C>T - IntronicSNV - 26/28 1
2-29423716-G-C c.3939-3174C>G - IntronicSNV - 26/28 1
2-29423716-G-T c.3939-3174C>A - IntronicSNV - 26/28 1
2-29423847-T-A c.3939-3305A>T - IntronicSNV - 26/28 1
2-29423987-T-C c.3939-3445A>G - IntronicSNV - 26/28 1
2-29424004-T-G c.3939-3462A>C - IntronicSNV - 26/28 1
2-29424089-T-C c.3939-3547A>G - IntronicSNV - 26/28 1
2-29424351-T-G c.3939-3809A>C - IntronicSNV - 26/28 1
2-29424546-G-A c.3939-4004C>T - IntronicSNV - 26/28 1
2-29424546-G-C c.3939-4004C>G - IntronicSNV - 26/28 1
2-29424715-T-C c.3939-4173A>G - IntronicSNV - 26/28 1
2-29424920-C-T c.3939-4378G>A - IntronicSNV - 26/28 1
2-29425048-G-A c.3939-4506C>T - IntronicSNV - 26/28 1
2-29425048-G-C c.3939-4506C>G - IntronicSNV - 26/28 1
2-29425166-A-C c.3939-4624T>G - IntronicSNV - 26/28 1
2-29425620-G-A c.3938+4417C>T - IntronicSNV - 26/28 1
2-29425873-C-T c.3938+4164G>A - IntronicSNV - 26/28 1
2-29426177-A-AT c.3938+3859dup - IntronicInsertion - 26/28 1
2-29426297-A-AT c.3938+3739dup - IntronicInsertion - 26/28 1
2-29426333-A-G c.3938+3704T>C - IntronicSNV - 26/28 1
2-29426501-C-G c.3938+3536G>C - IntronicSNV - 26/28 1
2-29426501-C-T c.3938+3536G>A - IntronicSNV - 26/28 1
2-29426938-G-A c.3938+3099C>T - IntronicSNV - 26/28 1
2-29426944-C-T c.3938+3093G>A - IntronicSNV - 26/28 1
2-29427777-T-C c.3938+2260A>G - IntronicSNV - 26/28 1
2-29428820-T-A c.3938+1217A>T - IntronicSNV - 26/28 1
2-29428823-G-GA c.3938+1213dup - IntronicInsertion - 26/28 1
2-29428846-T-C c.3938+1191A>G - IntronicSNV - 26/28 1
2-29429126-T-C c.3938+911A>G - IntronicSNV - 26/28 1
2-29429149-C-T c.3938+888G>A - IntronicSNV - 26/28 1
2-29429158-C-T c.3938+879G>A - IntronicSNV - 26/28 1
2-29429437-C-A c.3938+600G>T - IntronicSNV - 26/28 1
2-29429437-C-G c.3938+600G>C - IntronicSNV - 26/28 1
2-29429741-C-CTT c.3938+295_3938+296insAA - IntronicInsertion - 26/28 1
2-29429888-G-A c.3938+149C>T - IntronicSNV - 26/28 3
2-29429990-A-G c.3938+47T>C - IntronicSNV - 26/28 1
2-29430019-G-A c.3938+18C>T - IntronicSNV - 26/28 1
2-29430034-T-C c.3938+3A>G - IntronicSNV - 26/28 1
2-29420542-C-T c.3939G>A p.W1313* Nonsense 27/29 - 1
2-29430037-C-A c.3938G>T p.W1313L Missense 26/29 - 1
2-29430037-C-T c.3938G>A p.W1313* Nonsense 26/29 - 1
2-29430040-G-A c.3935C>T p.T1312I Missense 26/29 - 2
2-29430040-G-T c.3935C>A p.T1312K Missense 26/29 - 2
2-29430042-G-C c.3933C>G p.D1311E Missense 26/29 - 1
2-29430042-G-T c.3933C>A p.D1311E Missense 26/29 - 2
2-29430043-T-G c.3932A>C p.D1311A Missense 26/29 - 1
2-29430044-C-T c.3931G>A p.D1311N Missense 26/29 - 4
2-29430046-G-A c.3929C>T p.T1310I Missense 26/29 - 2
2-29430046-G-T c.3929C>A p.T1310K Missense 26/29 - 2
2-29430047-T-C c.3928A>G p.T1310A Missense 26/29 - 1
2-29430052-G-A c.3923C>T p.S1308F Missense 26/29 - 1
2-29430052-G-T c.3923C>A p.S1308Y Missense 26/29 - 2
2-29430053-A-G c.3922T>C p.S1308P Missense 26/29 - 1
2-29430055-G-A c.3920C>T p.T1307I Missense 26/29 - 1
2-29430056-T-G c.3919A>C p.T1307P Missense 26/29 - 2
2-29430057-G-A c.3918C>T p.F1306= Synonymous 26/29 - 1
2-29430060-T-A c.3915A>T p.I1305= Synonymous 26/29 - 1
2-29430060-T-G c.3915A>C p.I1305= Synonymous 26/29 - 1
2-29430061-A-G c.3914T>C p.I1305T Missense 26/29 - 1
2-29430063-T-C c.3912A>G p.G1304= Synonymous 26/29 - 1
2-29430064-C-A c.3911G>T p.G1304V Missense 26/29 - 1
2-29430064-C-T c.3911G>A p.G1304E Missense 26/29 - 15
2-29430065-C-A c.3910G>T p.G1304* Nonsense 26/29 - 2
2-29430067-T-C c.3908A>G p.E1303G Missense 26/29 - 1
2-29430068-C-T c.3907G>A p.E1303K Missense 26/29 - 2
2-29430070-A-C c.3905T>G p.M1302R Missense 26/29 - 1
2-29430071-T-C c.3904A>G p.M1302V Missense 26/29 - 1
2-29430076-G-A c.3899C>T p.A1300V Missense 26/29 - 2
2-29430077-C-T c.3898G>A p.A1300T Missense 26/29 - 1
2-29430079-T-C c.3896A>G p.E1299G Missense 26/29 - 1
2-29430080-C-A c.3895G>T p.E1299* Nonsense 26/29 - 7
2-29430080-C-G c.3895G>C p.E1299Q Missense 26/29 - 2
2-29430080-C-T c.3895G>A p.E1299K Missense 26/29 - 3
2-29430083-G-A c.3892C>T p.P1298S Missense 26/29 - 7
2-29430083-G-T c.3892C>A p.P1298T Missense 26/29 - 1
2-29430086-G-A c.3889C>T p.P1297S Missense 26/29 - 1
2-29430086-G-C c.3889C>G p.P1297A Missense 26/29 - 2
2-29430086-G-T c.3889C>A p.P1297T Missense 26/29 - 1
2-29430087-C-A c.3888G>T p.M1296I Missense 26/29 - 1
2-29430087-C-G c.3888G>C p.M1296I Missense 26/29 - 1
2-29430087-C-T c.3888G>A p.M1296I Missense 26/29 - 1
2-29430089-T-C c.3886A>G p.M1296V Missense 26/29 - 1
2-29430090-C-A c.3885G>T p.W1295C Missense 26/29 - 2
2-29430090-C-G c.3885G>C p.W1295C Missense 26/29 - 2
2-29430098-C-T c.3877G>A p.V1293I Missense 26/29 - 3
2-29430100-G-A c.3875C>T p.P1292L Missense 26/29 - 1
2-29430101-G-A c.3874C>T p.P1292S Missense 26/29 - 1
2-29430102-C-A c.3873G>T p.L1291= Synonymous 26/29 - 1
2-29430102-C-G c.3873G>C p.L1291= Synonymous 26/29 - 1
2-29430102-C-T c.3873G>A p.L1291= Synonymous 26/29 - 1
2-29430104-G-A c.3871C>T p.L1291= Synonymous 26/29 - 2
2-29430106-A-G c.3869T>C p.M1290T Missense 26/29 - 1
2-29430106-CA-C c.3869del p.M1290Sfs*72 Frameshift 26/29 - 1
2-29430107-T-A c.3868A>T p.M1290L Missense 26/29 - 1
2-29430107-T-C c.3868A>G p.M1290V Missense 26/29 - 1
2-29430107-T-G c.3868A>C p.M1290L Missense 26/29 - 1
2-29430109-G-A c.3866C>T p.A1289V Missense 26/29 - 7
2-29430110-C-T c.3865G>A p.A1289T Missense 26/29 - 1
2-29430111-A-C c.3864T>G p.C1288W Missense 26/29 - 1
2-29430112-C-T c.3863G>A p.C1288Y Missense 26/29 - 2
2-29430113-A-T c.3862T>A p.C1288S Missense 26/29 - 1
2-29430114-G-A c.3861C>T p.G1287= Synonymous 26/29 - 1
2-29430114-G-C c.3861C>G p.G1287= Synonymous 26/29 - 1
2-29430114-G-T c.3861C>A p.G1287= Synonymous 26/29 - 1
2-29430115-C-T c.3860G>A p.G1287D Missense 26/29 - 1
2-29430118-C-G c.3857G>C p.G1286A Missense 26/29 - 2
2-29430118-C-T c.3857G>A p.G1286E Missense 26/29 - 1
2-29430119-C-G c.3856G>C p.G1286R Missense 26/29 - 7
2-29430119-C-T c.3856G>A p.G1286R Missense 26/29 - 10
2-29430120-C-A c.3855G>T p.K1285N Missense 26/29 - 1
2-29430120-C-G c.3855G>C p.K1285N Missense 26/29 - 1
2-29430120-C-T c.3855G>A p.K1285= Synonymous 26/29 - 1
2-29430122-T-C c.3853A>G p.K1285E Missense 26/29 - 1
2-29430120-CT-C c.3854del p.K1285Rfs*77 Frameshift 26/29 - 1
2-29430124-C-T c.3851G>A p.R1284K Missense 26/29 - 6
2-29430124-CT-TG c.3850_3851delinsCA p.R1284Q Missense 26/29 - 1
2-29430126-A-G c.3849T>C p.Y1283= Synonymous 26/29 - 2
2-29430126-ATA-CTC c.3847_3849delinsGAG p.Y1283E Missense 26/29 - 1
2-29430127-T-A c.3848A>T p.Y1283F Missense 26/29 - 1
2-29430128-A-G c.3847T>C p.Y1283H Missense 26/29 - 1
2-29430129-G-A c.3846C>T p.Y1282= Synonymous 26/29 - 1
2-29430129-GTA-CTC c.3844_3846delinsGAG p.Y1282E Missense 26/29 - 1
2-29430130-T-A c.3845A>T p.Y1282F Missense 26/29 - 1
2-29430130-T-G c.3845A>C p.Y1282S Missense 26/29 - 1
2-29430133-C-T c.3842G>A p.S1281N Missense 26/29 - 1
2-29430134-T-C c.3841A>G p.S1281G Missense 26/29 - 3
2-29430135-C-A c.3840G>T p.A1280= Synonymous 26/29 - 1
2-29430136-G-A c.3839C>T p.A1280V Missense 26/29 - 12
2-29430136-G-T c.3839C>A p.A1280E Missense 26/29 - 1
2-29430138-C-A c.3837G>T p.R1279S Missense 26/29 - 1
2-29430142-T-G c.3837-4A>C - IntronicSNV - 25/28 1
2-29430431-T-C c.3837-293A>G - IntronicSNV - 25/28 1
2-29430465-A-G c.3837-327T>C - IntronicSNV - 25/28 1
2-29430519-G-T c.3837-381C>A - IntronicSNV - 25/28 2
2-29430758-A-G c.3837-620T>C - IntronicSNV - 25/28 1
2-29430910-C-T c.3837-772G>A - IntronicSNV - 25/28 2
2-29431202-G-A c.3837-1064C>T - IntronicSNV - 25/28 1
2-29431202-G-T c.3837-1064C>A - IntronicSNV - 25/28 1
2-29431344-G-A c.3837-1206C>T - IntronicSNV - 25/28 1
2-29431484-A-G c.3836+1168T>C - IntronicSNV - 25/28 1
2-29431484-A-T c.3836+1168T>A - IntronicSNV - 25/28 1
2-29431575-C-A c.3836+1077G>T - IntronicSNV - 25/28 1
2-29431782-A-G c.3836+870T>C - IntronicSNV - 25/28 1
2-29431790-T-A c.3836+862A>T - IntronicSNV - 25/28 1
2-29431807-T-C c.3836+845A>G - IntronicSNV - 25/28 1
2-29431807-T-G c.3836+845A>C - IntronicSNV - 25/28 1
2-29431991-T-TAAGAA c.3836+660_3836+661insTTCTT - IntronicInsertion - 25/28 1
2-29432105-C-G c.3836+547G>C - IntronicSNV - 25/28 1
2-29432625-C-A c.3836+27G>T - IntronicSNV - 25/28 10
2-29432625-C-T c.3836+27G>A - IntronicSNV - 25/28 4
2-29432649-C-A c.3836+3G>T - IntronicSNV - 25/28 1
2-29432649-C-T c.3836+3G>A - IntronicSNV - 25/28 1
2-29432651-C-A c.3836+1G>T - IntronicSNV - 25/28 1
2-29432652-C-A c.3836G>T p.R1279M Missense 25/29 - 6
2-29432652-C-T c.3836G>A p.R1279K Missense 25/29 - 5
2-29432652-CT-TA c.3835_3836delinsTA p.R1279* Nonsense 25/29 - 1
2-29432652-CT-TG c.3835_3836delinsCA p.R1279Q Missense 25/29 - 8
2-29432653-T-A c.3835A>T p.R1279W Missense 25/29 - 1
2-29432653-T-C c.3835A>G p.R1279G Missense 25/29 - 1
2-29432654-G-A c.3834C>T p.Y1278= Synonymous 25/29 - 1
2-29432654-GTA-CTC c.3832_3834delinsGAG p.Y1278E Missense 25/29 - 1
2-29432655-T-A c.3833A>T p.Y1278F Missense 25/29 - 1
2-29432655-TA-GC c.3832_3833delinsGC p.Y1278A Missense 25/29 - 2
2-29432655-T-C c.3833A>G p.Y1278C Missense 25/29 - 3
2-29432655-T-G c.3833A>C p.Y1278S Missense 25/29 - 42
2-29432656-A-C c.3832T>G p.Y1278D Missense 25/29 - 1
2-29432656-A-G c.3832T>C p.Y1278H Missense 25/29 - 2
2-29432656-A-T c.3832T>A p.Y1278N Missense 25/29 - 1
2-29432657-G-A c.3831C>T p.I1277= Synonymous 25/29 - 1
2-29432657-G-T c.3831C>A p.I1277= Synonymous 25/29 - 1
2-29432658-A-G c.3830T>C p.I1277T Missense 25/29 - 2
2-29432659-T-C c.3829A>G p.I1277V Missense 25/29 - 1
2-29432660-G-A c.3828C>T p.D1276= Synonymous 25/29 - 1
2-29432661-T-C c.3827A>G p.D1276G Missense 25/29 - 1
2-29432662-C-T c.3826G>A p.D1276N Missense 25/29 - 1
2-29432663-T-C c.3825A>G p.R1275= Synonymous 25/29 - 3
2-29432663-TCG-CCA c.3823_3825delinsTGG p.R1275W Missense 25/29 - 2
2-29432664-C-A c.3824G>T p.R1275L Missense 25/29 - 45
2-29432664-C-T c.3824G>A p.R1275Q Missense 25/29 - 322
2-29432663-T-A c.3825A>T p.R1275= Synonymous 25/29 - 1
2-29432663-T-G c.3825A>C p.R1275= Synonymous 25/29 - 1
2-29432665-G-A c.3823C>T p.R1275* Nonsense 25/29 - 25
2-29432665-G-T c.3823C>A p.R1275= Synonymous 25/29 - 1
2-29432666-G-A c.3822C>T p.A1274= Synonymous 25/29 - 1
2-29432666-G-C c.3822C>G p.A1274= Synonymous 25/29 - 1
2-29432666-G-T c.3822C>A p.A1274= Synonymous 25/29 - 1
2-29432667-G-A c.3821C>T p.A1274V Missense 25/29 - 2
2-29432667-G-T c.3821C>A p.A1274D Missense 25/29 - 1
2-29432668-C-A c.3820G>T p.A1274S Missense 25/29 - 2
2-29432668-C-T c.3820G>A p.A1274T Missense 25/29 - 10
2-29432669-C-A c.3819G>T p.M1273I Missense 25/29 - 3
2-29432669-C-G c.3819G>C p.M1273I Missense 25/29 - 3
2-29432669-C-T c.3819G>A p.M1273I Missense 25/29 - 3
2-29432670-A-G c.3818T>C p.M1273T Missense 25/29 - 1
2-29432669-CATCCCG-C c.3813_3818del p.F1271_M1273delinsL MultiAAMissense 25/29 - 7
2-29432671-T-C c.3817A>G p.M1273V Missense 25/29 - 1
2-29432672-C-A c.3816G>T p.G1272= Synonymous 25/29 - 1
2-29432672-C-G c.3816G>C p.G1272= Synonymous 25/29 - 1
2-29432672-C-T c.3816G>A p.G1272= Synonymous 25/29 - 1
2-29432673-C-A c.3815G>T p.G1272V Missense 25/29 - 1
2-29432673-C-T c.3815G>A p.G1272E Missense 25/29 - 3
2-29432674-C-A c.3814G>T p.G1272W Missense 25/29 - 2
2-29432674-C-G c.3814G>C p.G1272R Missense 25/29 - 6
2-29432674-C-T c.3814G>A p.G1272R Missense 25/29 - 8
2-29432675-G-A c.3813C>T p.F1271= Synonymous 25/29 - 5
2-29432676-A-G c.3812T>C p.F1271S Missense 25/29 - 1
2-29432676-A-T c.3812T>A p.F1271Y Missense 25/29 - 1
2-29432675-G-C c.3813C>G p.F1271L Missense 25/29 - 4
2-29432675-G-T c.3813C>A p.F1271L Missense 25/29 - 4
2-29432677-A-G c.3811T>C p.F1271L Missense 25/29 - 4
2-29432678-G-A c.3810C>T p.D1270= Synonymous 25/29 - 1
2-29432678-G-C c.3810C>G p.D1270E Missense 25/29 - 2
2-29432678-G-T c.3810C>A p.D1270E Missense 25/29 - 2
2-29432679-T-A c.3809A>T p.D1270V Missense 25/29 - 1
2-29432679-T-C c.3809A>G p.D1270G Missense 25/29 - 5
2-29432680-C-T c.3808G>A p.D1270N Missense 25/29 - 6
2-29432681-T-A c.3807A>T p.G1269= Synonymous 25/29 - 1
2-29432681-T-C c.3807A>G p.G1269= Synonymous 25/29 - 1
2-29432681-TCC-ACA c.3805_3807delinsTGT p.G1269C Missense 25/29 - 2
2-29432681-TCC-CAT c.3805_3807delinsATG p.G1269M Missense 25/29 - 1
2-29432681-TCC-GCT c.3805_3807delinsAGC p.G1269S Missense 25/29 - 31
2-29432681-T-G c.3807A>C p.G1269= Synonymous 25/29 - 1
2-29432682-C-A c.3806G>T p.G1269V Missense 25/29 - 1
2-29432682-C-G c.3806G>C p.G1269A Missense 25/29 - 367
2-29432682-C-T c.3806G>A p.G1269E Missense 25/29 - 8
2-29432683-C-G c.3805G>C p.G1269R Missense 25/29 - 5
2-29432683-C-T c.3805G>A p.G1269R Missense 25/29 - 5
2-29432684-A-G c.3804T>C p.I1268= Synonymous 25/29 - 2
2-29432684-A-T c.3804T>A p.I1268= Synonymous 25/29 - 1
2-29432685-A-C c.3803T>G p.I1268S Missense 25/29 - 4
2-29432685-A-G c.3803T>C p.I1268T Missense 25/29 - 5
2-29432685-A-T c.3803T>A p.I1268N Missense 25/29 - 1
2-29432686-T-A c.3802A>T p.I1268F Missense 25/29 - 1
2-29432686-T-C c.3802A>G p.I1268V Missense 25/29 - 3
2-29432686-T-G c.3802A>C p.I1268L Missense 25/29 - 3
2-29432687-C-T c.3801G>A p.K1267= Synonymous 25/29 - 1
2-29432688-T-C c.3800A>G p.K1267R Missense 25/29 - 1
2-29432689-T-C c.3799A>G p.K1267E Missense 25/29 - 1
2-29432690-G-A c.3798C>T p.A1266= Synonymous 25/29 - 2
2-29432690-G-C c.3798C>G p.A1266= Synonymous 25/29 - 2
2-29432690-G-T c.3798C>A p.A1266= Synonymous 25/29 - 2
2-29432691-G-A c.3797C>T p.A1266V Missense 25/29 - 4
2-29432691-G-C c.3797C>G p.A1266G Missense 25/29 - 1
2-29432692-C-T c.3796G>A p.A1266T Missense 25/29 - 3
2-29432693-C-A c.3795G>T p.V1265= Synonymous 25/29 - 1
2-29432693-C-G c.3795G>C p.V1265= Synonymous 25/29 - 1
2-29432693-C-T c.3795G>A p.V1265= Synonymous 25/29 - 1
2-29432694-A-G c.3794T>C p.V1265A Missense 25/29 - 2
2-29432694-A-T c.3794T>A p.V1265E Missense 25/29 - 1
2-29432695-C-A c.3793G>T p.V1265L Missense 25/29 - 4
2-29432695-C-G c.3793G>C p.V1265L Missense 25/29 - 3
2-29432695-C-T c.3793G>A p.V1265M Missense 25/29 - 4
2-29432696-T-C c.3792A>G p.R1264= Synonymous 25/29 - 1
2-29432698-T-G c.3790A>C p.R1264= Synonymous 25/29 - 1
2-29432697-C-G c.3791G>C p.R1264T Missense 25/29 - 2
2-29432697-C-T c.3791G>A p.R1264K Missense 25/29 - 3
2-29432698-T-C c.3790A>G p.R1264G Missense 25/29 - 1
2-29432699-T-A c.3789A>T p.G1263= Synonymous 25/29 - 1
2-29432699-T-C c.3789A>G p.G1263= Synonymous 25/29 - 1
2-29432699-T-G c.3789A>C p.G1263= Synonymous 25/29 - 1
2-29432700-C-A c.3788G>T p.G1263V Missense 25/29 - 2
2-29432700-C-T c.3788G>A p.G1263E Missense 25/29 - 3
2-29432701-C-G c.3787G>C p.G1263R Missense 25/29 - 3
2-29432701-C-T c.3787G>A p.G1263R Missense 25/29 - 5
2-29432702-A-C c.3786T>G p.P1262= Synonymous 25/29 - 1
2-29432702-A-G c.3786T>C p.P1262= Synonymous 25/29 - 1
2-29432702-A-T c.3786T>A p.P1262= Synonymous 25/29 - 1
2-29432703-G-A c.3785C>T p.P1262L Missense 25/29 - 1
2-29432704-G-A c.3784C>T p.P1262S Missense 25/29 - 5
2-29432705-G-A c.3783C>T p.G1261= Synonymous 25/29 - 3
2-29432705-G-C c.3783C>G p.G1261= Synonymous 25/29 - 1
2-29432705-G-T c.3783C>A p.G1261= Synonymous 25/29 - 1
2-29432706-C-T c.3782G>A p.G1261D Missense 25/29 - 5
2-29432707-C-T c.3781G>A p.G1261S Missense 25/29 - 4
2-29432708-T-A c.3780A>T p.P1260= Synonymous 25/29 - 1
2-29432708-T-C c.3780A>G p.P1260= Synonymous 25/29 - 1
2-29432708-T-G c.3780A>C p.P1260= Synonymous 25/29 - 1
2-29432709-G-A c.3779C>T p.P1260L Missense 25/29 - 1
2-29432709-G-T c.3779C>A p.P1260Q Missense 25/29 - 3
2-29432710-G-A c.3778C>T p.P1260S Missense 25/29 - 2
2-29432710-G-T c.3778C>A p.P1260T Missense 25/29 - 3
2-29432711-A-G c.3777T>C p.C1259= Synonymous 25/29 - 1
2-29432712-C-T c.3776G>A p.C1259Y Missense 25/29 - 4
2-29432713-A-G c.3775T>C p.C1259R Missense 25/29 - 2
2-29432714-G-A c.3774C>T p.T1258= Synonymous 25/29 - 1
2-29432714-G-C c.3774C>G p.T1258= Synonymous 25/29 - 1
2-29432714-G-T c.3774C>A p.T1258= Synonymous 25/29 - 1
2-29432715-G-A c.3773C>T p.T1258I Missense 25/29 - 2
2-29432715-G-T c.3773C>A p.T1258N Missense 25/29 - 1
2-29432716-T-C c.3772A>G p.T1258A Missense 25/29 - 1
2-29432718-A-G c.3770T>C p.L1257S Missense 25/29 - 1
2-29432717-C-T c.3771G>A p.L1257= Synonymous 25/29 - 1
2-29432719-A-C c.3769T>G p.L1257V Missense 25/29 - 1
2-29432719-A-G c.3769T>C p.L1257= Synonymous 25/29 - 1
2-29432720-G-A c.3768C>T p.L1256= Synonymous 25/29 - 3
2-29432720-G-C c.3768C>G p.L1256= Synonymous 25/29 - 2
2-29432720-G-T c.3768C>A p.L1256= Synonymous 25/29 - 2
2-29432722-G-A c.3766C>T p.L1256F Missense 25/29 - 16
2-29432722-G-T c.3766C>A p.L1256I Missense 25/29 - 1
2-29432724-C-A c.3764G>T p.C1255F Missense 25/29 - 1
2-29432724-C-G c.3764G>C p.C1255S Missense 25/29 - 1
2-29432724-C-T c.3764G>A p.C1255Y Missense 25/29 - 1
2-29432727-T-C c.3761A>G p.N1254S Missense 25/29 - 1
2-29432729-TCT-ATG c.3757_3759delinsCAT p.R1253H Missense 25/29 - 1
2-29432730-C-G c.3758G>C p.R1253T Missense 25/29 - 4
2-29432730-C-T c.3758G>A p.R1253K Missense 25/29 - 2
2-29432730-CT-TG c.3757_3758delinsCA p.R1253Q Missense 25/29 - 1
2-29432731-T-A c.3757A>T p.R1253* Nonsense 25/29 - 1
2-29432731-T-C c.3757A>G p.R1253G Missense 25/29 - 3
2-29432732-G-A c.3756C>T p.A1252= Synonymous 25/29 - 3
2-29432733-G-A c.3755C>T p.A1252V Missense 25/29 - 4
2-29432734-C-T c.3754G>A p.A1252T Missense 25/29 - 1
2-29432735-A-G c.3753T>C p.A1251= Synonymous 25/29 - 1
2-29432735-A-T c.3753T>A p.A1251= Synonymous 25/29 - 1
2-29432736-G-C c.3752C>G p.A1251G Missense 25/29 - 1
2-29432736-G-T c.3752C>A p.A1251D Missense 25/29 - 3
2-29432737-C-A c.3751G>T p.A1251S Missense 25/29 - 1
2-29432737-C-T c.3751G>A p.A1251T Missense 25/29 - 2
2-29432738-A-C c.3750T>G p.I1250M Missense 25/29 - 2
2-29432737-C-CA c.3750dup p.A1251Cfs*34 Frameshift 25/29 - 1
2-29432739-A-G c.3749T>C p.I1250T Missense 25/29 - 37
2-29432740-T-C c.3748A>G p.I1250V Missense 25/29 - 4
2-29432742-T-C c.3746A>G p.D1249G Missense 25/29 - 2
2-29432743-C-A c.3745G>T p.D1249Y Missense 25/29 - 2
2-29432743-C-G c.3745G>C p.D1249H Missense 25/29 - 1
2-29432743-C-T c.3745G>A p.D1249N Missense 25/29 - 6
2-29432776-T-C c.3744-32A>G - IntronicSNV - 24/28 8
2-29432982-C-T c.3744-238G>A - IntronicSNV - 24/28 2
2-29433063-T-TCTAA c.3744-323_3744-320dup - IntronicInsertion - 24/28 1
2-29433205-C-T c.3744-461G>A - IntronicSNV - 24/28 2
2-29433290-A-G c.3744-546T>C - IntronicSNV - 24/28 1
2-29433361-C-T c.3744-617G>A - IntronicSNV - 24/28 1
2-29433375-T-C c.3744-631A>G - IntronicSNV - 24/28 1
2-29434034-C-G c.3744-1290G>C - IntronicSNV - 24/28 2
2-29434034-C-T c.3744-1290G>A - IntronicSNV - 24/28 2
2-29434197-C-T c.3744-1453G>A - IntronicSNV - 24/28 2
2-29434213-C-CAAAGT c.3744-1474_3744-1470dup - IntronicInsertion - 24/28 2
2-29434339-T-C c.3744-1595A>G - IntronicSNV - 24/28 2
2-29434500-G-A c.3744-1756C>T - IntronicSNV - 24/28 2
2-29434641-G-A c.3744-1897C>T - IntronicSNV - 24/28 2
2-29434643-C-A c.3744-1899G>T - IntronicSNV - 24/28 1
2-29434987-G-A c.3743+1863C>T - IntronicSNV - 24/28 1
2-29435044-G-A c.3743+1806C>T - IntronicSNV - 24/28 1
2-29435047-G-C c.3743+1803C>G - IntronicSNV - 24/28 1
2-29435058-T-C c.3743+1792A>G - IntronicSNV - 24/28 1
2-29435256-TA-T c.3743+1593del - IntronicDeletion - 24/28 1
2-29435296-G-C c.3743+1554C>G - IntronicSNV - 24/28 1
2-29435447-C-T c.3743+1403G>A - IntronicSNV - 24/28 2
2-29435478-A-C c.3743+1372T>G - IntronicSNV - 24/28 1
2-29435478-A-T c.3743+1372T>A - IntronicSNV - 24/28 1
2-29435515-T-G c.3743+1335A>C - IntronicSNV - 24/28 2
2-29435636-G-A c.3743+1214C>T - IntronicSNV - 24/28 1
2-29435726-C-G c.3743+1124G>C - IntronicSNV - 24/28 1
2-29435728-T-C c.3743+1122A>G - IntronicSNV - 24/28 1
2-29435763-G-A c.3743+1087C>T - IntronicSNV - 24/28 1
2-29435763-G-T c.3743+1087C>A - IntronicSNV - 24/28 1
2-29435846-C-T c.3743+1004G>A - IntronicSNV - 24/28 1
2-29435897-C-A c.3743+953G>T - IntronicSNV - 24/28 2
2-29436309-C-T c.3743+541G>A - IntronicSNV - 24/28 1
2-29436464-T-C c.3743+386A>G - IntronicSNV - 24/28 1
2-29436482-G-A c.3743+368C>T - IntronicSNV - 24/28 1
2-29436482-G-T c.3743+368C>A - IntronicSNV - 24/28 1
2-29436633-G-T c.3743+217C>A - IntronicSNV - 24/28 2
2-29436787-T-A c.3743+63A>T - IntronicSNV - 24/28 1
2-29436847-C-T c.3743+3G>A - IntronicSNV - 24/28 1
2-29436850-C-G c.3743G>C p.R1248P Missense 24/29 - 1
2-29436850-C-T c.3743G>A p.R1248Q Missense 24/29 - 6
2-29436851-G-A c.3742C>T p.R1248* Nonsense 24/29 - 6
2-29436851-G-T c.3742C>A p.R1248= Synonymous 24/29 - 1
2-29436853-GT-G c.3740del p.H1247Pfs*11 Frameshift 24/29 - 1
2-29436854-G-A c.3739C>T p.H1247Y Missense 24/29 - 1
2-29436858-G-A c.3735C>T p.F1245= Synonymous 24/29 - 2
2-29436858-GA-TT c.3734_3735delinsAA p.F1245* Nonsense 24/29 - 1
2-29436859-AA-GC c.3733_3734delinsGC p.F1245A Missense 24/29 - 1
2-29436859-A-C c.3734T>G p.F1245C Missense 24/29 - 105
2-29436859-A-G c.3734T>C p.F1245S Missense 24/29 - 1
2-29436859-A-T c.3734T>A p.F1245Y Missense 24/29 - 4
2-29436858-G-C c.3735C>G p.F1245L Missense 24/29 - 25
2-29436858-G-T c.3735C>A p.F1245L Missense 24/29 - 27
2-29436860-A-C c.3733T>G p.F1245V Missense 24/29 - 63
2-29436860-A-G c.3733T>C p.F1245L Missense 24/29 - 25
2-29436860-A-T c.3733T>A p.F1245I Missense 24/29 - 25
2-29436861-G-T c.3732C>A p.H1244Q Missense 24/29 - 1
2-29436862-T-C c.3731A>G p.H1244R Missense 24/29 - 1
2-29436862-T-G c.3731A>C p.H1244P Missense 24/29 - 1
2-29436863-G-A c.3730C>T p.H1244Y Missense 24/29 - 1
2-29436863-G-C c.3730C>G p.H1244D Missense 24/29 - 1
2-29436868-T-C c.3725A>G p.E1242G Missense 24/29 - 1
2-29436869-C-T c.3724G>A p.E1242K Missense 24/29 - 11
2-29436872-C-T c.3721G>A p.E1241K Missense 24/29 - 4
2-29436873-C-T c.3720G>A p.L1240= Synonymous 24/29 - 2
2-29436875-A-C c.3718T>G p.L1240V Missense 24/29 - 19
2-29436875-A-G c.3718T>C p.L1240= Synonymous 24/29 - 1
2-29436877-T-A c.3716A>T p.Y1239F Missense 24/29 - 1
2-29436878-A-G c.3715T>C p.Y1239H Missense 24/29 - 2
2-29436877-TACTG-T c.3712_3715del p.Q1238Ifs*19 Frameshift 24/29 - 1
2-29436880-T-C c.3713A>G p.Q1238R Missense 24/29 - 1
2-29436881-G-C c.3712C>G p.Q1238E Missense 24/29 - 1
2-29436887-C-G c.3706G>C p.G1236R Missense 24/29 - 1
2-29436887-C-T c.3706G>A p.G1236S Missense 24/29 - 1
2-29436890-A-G c.3703T>C p.C1235R Missense 24/29 - 2
2-29436892-G-A c.3701C>T p.A1234V Missense 24/29 - 2
2-29436893-C-T c.3700G>A p.A1234T Missense 24/29 - 20
2-29436895-A-G c.3698T>C p.I1233T Missense 24/29 - 1
2-29436898-T-C c.3695A>G p.D1232G Missense 24/29 - 2
2-29436901-C-T c.3692G>A p.R1231Q Missense 24/29 - 18
2-29436902-G-A c.3691C>T p.R1231W Missense 24/29 - 9
2-29436905-C-G c.3688G>C p.A1230P Missense 24/29 - 1
2-29436905-C-T c.3688G>A p.A1230T Missense 24/29 - 1
2-29436908-C-A c.3685G>T p.V1229L Missense 24/29 - 1
2-29436908-C-G c.3685G>C p.V1229L Missense 24/29 - 1
2-29436908-C-T c.3685G>A p.V1229M Missense 24/29 - 4
2-29436909-G-C c.3684C>G p.H1228Q Missense 24/29 - 1
2-29436909-G-T c.3684C>A p.H1228Q Missense 24/29 - 1
2-29436911-G-A c.3682C>T p.H1228Y Missense 24/29 - 3
2-29436916-A-T c.3677T>A p.L1226H Missense 24/29 - 1
2-29436918-G-C c.3675C>G p.D1225E Missense 24/29 - 1
2-29436918-G-T c.3675C>A p.D1225E Missense 24/29 - 1
2-29436919-T-C c.3674A>G p.D1225G Missense 24/29 - 1
2-29436919-T-G c.3674A>C p.D1225A Missense 24/29 - 1
2-29436920-C-T c.3673G>A p.D1225N Missense 24/29 - 4
2-29436923-G-A c.3670C>T p.L1224= Synonymous 24/29 - 1
2-29436923-G-T c.3670C>A p.L1224M Missense 24/29 - 1
2-29436924-C-T c.3669G>A p.M1223I Missense 24/29 - 2
2-29436928-G-A c.3665C>T p.A1222V Missense 24/29 - 2
2-29436929-C-G c.3664G>C p.A1222P Missense 24/29 - 2
2-29436930-C-A c.3663G>T p.L1221= Synonymous 24/29 - 2
2-29436930-C-G c.3663G>C p.L1221= Synonymous 24/29 - 2
2-29436930-C-T c.3663G>A p.L1221= Synonymous 24/29 - 2
2-29436931-A-C c.3662T>G p.L1221R Missense 24/29 - 4
2-29436931-A-T c.3662T>A p.L1221Q Missense 24/29 - 1
2-29436932-G-A c.3661C>T p.L1221= Synonymous 24/29 - 4
2-29436932-G-T c.3661C>A p.L1221M Missense 24/29 - 1
2-29436933-G-C c.3660C>G p.S1220= Synonymous 24/29 - 1
2-29436936-G-A c.3657C>T p.S1219= Synonymous 24/29 - 2
2-29436937-G-A c.3656C>T p.S1219F Missense 24/29 - 2
2-29436937-GA-AT c.3655_3656delinsAT p.S1219I Missense 24/29 - 1
2-29436938-A-G c.3655T>C p.S1219P Missense 24/29 - 1
2-29436940-G-A c.3653C>T p.P1218L Missense 24/29 - 1
2-29436941-G-A c.3652C>T p.P1218S Missense 24/29 - 3
2-29436942-C-A c.3651G>T p.Q1217H Missense 24/29 - 1
2-29436943-T-G c.3650A>C p.Q1217P Missense 24/29 - 1
2-29436945-G-A c.3648C>T p.S1216= Synonymous 24/29 - 1
2-29436946-C-T c.3647G>A p.S1216N Missense 24/29 - 1
2-29436947-T-A c.3646A>T p.S1216C Missense 24/29 - 1
2-29436947-T-C c.3646A>G p.S1216G Missense 24/29 - 2
2-29436966-G-A c.3646-19C>T - IntronicSNV - 23/28 1
2-29436966-G-C c.3646-19C>G - IntronicSNV - 23/28 1
2-29436966-G-T c.3646-19C>A - IntronicSNV - 23/28 1
2-29436976-C-A c.3646-29G>T - IntronicSNV - 23/28 1
2-29436976-C-T c.3646-29G>A - IntronicSNV - 23/28 1
2-29437182-T-C c.3646-235A>G - IntronicSNV - 23/28 4
2-29437310-G-A c.3646-363C>T - IntronicSNV - 23/28 2
2-29437509-C-T c.3646-562G>A - IntronicSNV - 23/28 2
2-29437831-C-G c.3646-884G>C - IntronicSNV - 23/28 2
2-29437831-C-T c.3646-884G>A - IntronicSNV - 23/28 2
2-29437842-G-A c.3646-895C>T - IntronicSNV - 23/28 1
2-29437882-A-G c.3646-935T>C - IntronicSNV - 23/28 1
2-29437882-A-T c.3646-935T>A - IntronicSNV - 23/28 1
2-29437883-T-A c.3646-936A>T - IntronicSNV - 23/28 1
2-29437990-C-G c.3646-1043G>C - IntronicSNV - 23/28 2
2-29438333-T-C c.3646-1386A>G - IntronicSNV - 23/28 2
2-29438549-T-C c.3646-1602A>G - IntronicSNV - 23/28 1
2-29438655-C-G c.3646-1708G>C - IntronicSNV - 23/28 2
2-29438655-C-T c.3646-1708G>A - IntronicSNV - 23/28 2
2-29438765-G-A c.3646-1818C>T - IntronicSNV - 23/28 1
2-29439710-A-G c.3646-2763T>C - IntronicSNV - 23/28 1
2-29439979-G-T c.3646-3032C>A - IntronicSNV - 23/28 1
2-29440025-G-A c.3646-3078C>T - IntronicSNV - 23/28 2
2-29440025-G-T c.3646-3078C>A - IntronicSNV - 23/28 2
2-29440454-G-A c.3645+3118C>T - IntronicSNV - 23/28 1
2-29440472-T-A c.3645+3100A>T - IntronicSNV - 23/28 1
2-29440472-T-C c.3645+3100A>G - IntronicSNV - 23/28 1
2-29440749-CAT-C c.3645+2822_3645+2823del - IntronicDeletion - 23/28 1
2-29440916-G-C c.3645+2656C>G - IntronicSNV - 23/28 1
2-29440987-T-A c.3645+2585A>T - IntronicSNV - 23/28 1
2-29440987-T-C c.3645+2585A>G - IntronicSNV - 23/28 1
2-29441435-G-A c.3645+2137C>T - IntronicSNV - 23/28 2
2-29441435-G-C c.3645+2137C>G - IntronicSNV - 23/28 1
2-29441708-T-C c.3645+1864A>G - IntronicSNV - 23/28 2
2-29441785-G-A c.3645+1787C>T - IntronicSNV - 23/28 1
2-29441826-C-A c.3645+1746G>T - IntronicSNV - 23/28 1
2-29441905-C-G c.3645+1667G>C - IntronicSNV - 23/28 1
2-29441954-C-T c.3645+1618G>A - IntronicSNV - 23/28 1
2-29441972-A-G c.3645+1600T>C - IntronicSNV - 23/28 1
2-29442189-C-G c.3645+1383G>C - IntronicSNV - 23/28 2
2-29442189-C-T c.3645+1383G>A - IntronicSNV - 23/28 1
2-29442426-C-T c.3645+1146G>A - IntronicSNV - 23/28 2
2-29442606-C-A c.3645+966G>T - IntronicSNV - 23/28 1
2-29442606-C-T c.3645+966G>A - IntronicSNV - 23/28 1
2-29442639-G-A c.3645+933C>T - IntronicSNV - 23/28 1
2-29442648-T-C c.3645+924A>G - IntronicSNV - 23/28 1
2-29442806-C-T c.3645+766G>A - IntronicSNV - 23/28 1
2-29442807-G-A c.3645+765C>T - IntronicSNV - 23/28 1
2-29443125-T-A c.3645+447A>T - IntronicSNV - 23/28 1
2-29443125-T-C c.3645+447A>G - IntronicSNV - 23/28 1
2-29443373-G-A c.3645+199C>T - IntronicSNV - 23/28 2
2-29443384-C-T c.3645+188G>A - IntronicSNV - 23/28 1
2-29443569-C-T c.3645+3G>A - IntronicSNV - 23/28 1
2-29443571-C-A c.3645+1G>T - IntronicSNV - 23/28 1
2-29443572-C-A c.3645G>T p.P1215= Synonymous 23/29 - 3
2-29443572-C-G c.3645G>C p.P1215= Synonymous 23/29 - 3
2-29443572-C-T c.3645G>A p.P1215= Synonymous 23/29 - 7
2-29443573-G-A c.3644C>T p.P1215L Missense 23/29 - 2
2-29443573-G-T c.3644C>A p.P1215Q Missense 23/29 - 2
2-29443574-G-T c.3643C>A p.P1215T Missense 23/29 - 1
2-29443575-GCG-CCA c.3640_3642delinsTGG p.R1214W Missense 23/29 - 1
2-29443575-GCG-TCA c.3640_3642delinsTGA p.R1214* Nonsense 23/29 - 1
2-29443576-C-T c.3641G>A p.R1214H Missense 23/29 - 8
2-29443577-G-A c.3640C>T p.R1214C Missense 23/29 - 9
2-29443579-G-A c.3638C>T p.P1213L Missense 23/29 - 1
2-29443579-GG-CA c.3637_3638delinsTG p.P1213C Missense 23/29 - 1
2-29443579-G-T c.3638C>A p.P1213H Missense 23/29 - 1
2-29443580-G-A c.3637C>T p.P1213S Missense 23/29 - 6
2-29443581-GC-TT c.3635_3636delinsAA p.R1212Q Missense 23/29 - 1
2-29443582-C-A c.3635G>T p.R1212L Missense 23/29 - 1
2-29443582-C-G c.3635G>C p.R1212P Missense 23/29 - 3
2-29443582-C-T c.3635G>A p.R1212H Missense 23/29 - 8
2-29443583-G-A c.3634C>T p.R1212C Missense 23/29 - 4
2-29443583-G-T c.3634C>A p.R1212S Missense 23/29 - 4
2-29443584-G-A c.3633C>T p.T1211= Synonymous 23/29 - 4
2-29443584-G-C c.3633C>G p.T1211= Synonymous 23/29 - 2
2-29443584-G-T c.3633C>A p.T1211= Synonymous 23/29 - 5
2-29443585-G-T c.3632C>A p.T1211N Missense 23/29 - 1
2-29443586-T-A c.3631A>T p.T1211S Missense 23/29 - 1
2-29443586-T-C c.3631A>G p.T1211A Missense 23/29 - 2
2-29443587-C-T c.3630G>A p.E1210= Synonymous 23/29 - 1
2-29443589-C-G c.3628G>C p.E1210Q Missense 23/29 - 1
2-29443589-C-T c.3628G>A p.E1210K Missense 23/29 - 87
2-29443591-C-G c.3626G>C p.R1209P Missense 23/29 - 5
2-29443591-C-T c.3626G>A p.R1209Q Missense 23/29 - 16
2-29443591-TC-T c.3626del p.R1209Qfs*49 Frameshift 23/29 - 1
2-29443590-T-A c.3627A>T p.R1209= Synonymous 23/29 - 1
2-29443590-T-C c.3627A>G p.R1209= Synonymous 23/29 - 1
2-29443590-T-G c.3627A>C p.R1209= Synonymous 23/29 - 1
2-29443592-G-A c.3625C>T p.R1209* Nonsense 23/29 - 8
2-29443592-G-C c.3625C>G p.R1209G Missense 23/29 - 1
2-29443592-G-T c.3625C>A p.R1209= Synonymous 23/29 - 1
2-29443595-G-A c.3622C>T p.L1208F Missense 23/29 - 1
2-29443596-G-A c.3621C>T p.F1207= Synonymous 23/29 - 2
2-29443596-G-T c.3621C>A p.F1207L Missense 23/29 - 1
2-29443600-G-A c.3617C>T p.S1206F Missense 23/29 - 16
2-29443600-GA-CG c.3616_3617delinsCG p.S1206R Missense 23/29 - 23
2-29443600-G-C c.3617C>G p.S1206C Missense 23/29 - 35
2-29443600-G-T c.3617C>A p.S1206Y Missense 23/29 - 204
2-29443601-A-C c.3616T>G p.S1206A Missense 23/29 - 4
2-29443602-C-T c.3615G>A p.K1205= Synonymous 23/29 - 1
2-29443604-T-G c.3613A>C p.K1205Q Missense 23/29 - 1
2-29443605-G-C c.3612C>G p.L1204= Synonymous 23/29 - 1
2-29443606-A-G c.3611T>C p.L1204P Missense 23/29 - 1
2-29443607-G-A c.3610C>T p.L1204F Missense 23/29 - 10
2-29443607-G-C c.3610C>G p.L1204V Missense 23/29 - 6
2-29443608-GTC-CTT c.3607_3609delinsAAG p.D1203K Missense 23/29 - 1
2-29443609-T-C c.3608A>G p.D1203G Missense 23/29 - 3
2-29443609-T-G c.3608A>C p.D1203A Missense 23/29 - 1
2-29443610-C-G c.3607G>C p.D1203H Missense 23/29 - 1
2-29443610-C-T c.3607G>A p.D1203N Missense 23/29 - 127
2-29443609-TCTC-T c.3605_3607del p.G1202del InFrameDeletion 23/29 - 30
2-29443611-T-A c.3606A>T p.G1202= Synonymous 23/29 - 2
2-29443611-T-C c.3606A>G p.G1202= Synonymous 23/29 - 4
2-29443611-TCC-GCT c.3604_3606delinsAGC p.G1202S Missense 23/29 - 1
2-29443611-TCC-GTT c.3604_3606delinsAAC p.G1202N Missense 23/29 - 1
2-29443611-T-G c.3606A>C p.G1202= Synonymous 23/29 - 2
2-29443612-C-A c.3605G>T p.G1202V Missense 23/29 - 1
2-29443612-CC-AG c.3604_3605delinsCT p.G1202L Missense 23/29 - 1
2-29443612-CC-TT c.3604_3605delinsAA p.G1202K Missense 23/29 - 3
2-29443612-C-T c.3605G>A p.G1202E Missense 23/29 - 7
2-29443613-C-A c.3604G>T p.G1202* Nonsense 23/29 - 1
2-29443613-C-G c.3604G>C p.G1202R Missense 23/29 - 421
2-29443613-C-T c.3604G>A p.G1202R Missense 23/29 - 508
2-29443614-C-A c.3603G>T p.G1201= Synonymous 23/29 - 1
2-29443614-CCC-ACA c.3601_3603delinsTGT p.G1201C Missense 23/29 - 1
2-29443614-C-G c.3603G>C p.G1201= Synonymous 23/29 - 1
2-29443614-C-T c.3603G>A p.G1201= Synonymous 23/29 - 1
2-29443615-C-A c.3602G>T p.G1201V Missense 23/29 - 2
2-29443615-C-G c.3602G>C p.G1201A Missense 23/29 - 3
2-29443615-C-T c.3602G>A p.G1201E Missense 23/29 - 24
2-29443616-C-A c.3601G>T p.G1201W Missense 23/29 - 2
2-29443616-C-G c.3601G>C p.G1201R Missense 23/29 - 6
2-29443616-C-T c.3601G>A p.G1201R Missense 23/29 - 8
2-29443611-TC-T c.3605del p.G1202Efs*56 Frameshift 23/29 - 5
2-29443617-C-A c.3600G>T p.A1200= Synonymous 23/29 - 10
2-29443617-C-G c.3600G>C p.A1200= Synonymous 23/29 - 11
2-29443617-C-T c.3600G>A p.A1200= Synonymous 23/29 - 10
2-29443618-G-A c.3599C>T p.A1200V Missense 23/29 - 39
2-29443618-G-C c.3599C>G p.A1200G Missense 23/29 - 3
2-29443619-C-T c.3598G>A p.A1200T Missense 23/29 - 1
2-29443620-C-A c.3597G>T p.M1199I Missense 23/29 - 2
2-29443620-C-T c.3597G>A p.M1199I Missense 23/29 - 1
2-29443621-A-C c.3596T>G p.M1199R Missense 23/29 - 1
2-29443621-A-G c.3596T>C p.M1199T Missense 23/29 - 1
2-29443622-T-A c.3595A>T p.M1199L Missense 23/29 - 8
2-29443622-T-G c.3595A>C p.M1199L Missense 23/29 - 10
2-29443623-G-A c.3594C>T p.L1198= Synonymous 23/29 - 4
2-29443623-GAG-CAT c.3592_3594delinsATG p.L1198M Missense 23/29 - 1
2-29443623-GAG-TTA c.3592_3594delinsTAA p.L1198* Nonsense 23/29 - 1
2-29443623-G-C c.3594C>G p.L1198= Synonymous 23/29 - 1
2-29443623-G-T c.3594C>A p.L1198= Synonymous 23/29 - 1
2-29443624-A-C c.3593T>G p.L1198R Missense 23/29 - 2
2-29443624-A-G c.3593T>C p.L1198P Missense 23/29 - 14
2-29443624-A-T c.3593T>A p.L1198H Missense 23/29 - 10
2-29443625-G-A c.3592C>T p.L1198F Missense 23/29 - 139
2-29443625-G-C c.3592C>G p.L1198V Missense 23/29 - 3
2-29443625-G-T c.3592C>A p.L1198I Missense 23/29 - 5
2-29443626-C-T c.3591G>A p.E1197= Synonymous 23/29 - 1
2-29443627-T-C c.3590A>G p.E1197G Missense 23/29 - 1
2-29443628-C-T c.3589G>A p.E1197K Missense 23/29 - 7
2-29443629-CAG-AAA c.3586_3588delinsTTT p.L1196F Missense 23/29 - 1
2-29443630-A-T c.3587T>A p.L1196Q Missense 23/29 - 34
2-29443631-G-T c.3586C>A p.L1196M Missense 23/29 - 641
2-29443632-C-A c.3585G>T p.L1195= Synonymous 23/29 - 1
2-29443632-C-G c.3585G>C p.L1195= Synonymous 23/29 - 1
2-29443632-C-T c.3585G>A p.L1195= Synonymous 23/29 - 1
2-29443634-G-A c.3583C>T p.L1195= Synonymous 23/29 - 1
2-29443633-A-G c.3584T>C p.L1195P Missense 23/29 - 1
2-29443634-G-C c.3583C>G p.L1195V Missense 23/29 - 1
2-29443634-G-T c.3583C>A p.L1195M Missense 23/29 - 1
2-29443635-G-A c.3582C>T p.I1194= Synonymous 23/29 - 1
2-29443636-A-G c.3581T>C p.I1194T Missense 23/29 - 1
2-29443637-T-A c.3580A>T p.I1194F Missense 23/29 - 2
2-29443637-T-C c.3580A>G p.I1194V Missense 23/29 - 2
2-29443638-G-A c.3579C>T p.F1193= Synonymous 23/29 - 1
2-29443638-G-C c.3579C>G p.F1193L Missense 23/29 - 2
2-29443638-G-T c.3579C>A p.F1193L Missense 23/29 - 2
2-29443640-A-G c.3577T>C p.F1193L Missense 23/29 - 3
2-29443641-CCG-ACA c.3574_3576delinsTGT p.R1192C Missense 23/29 - 1
2-29443642-C-G c.3575G>C p.R1192P Missense 23/29 - 58
2-29443642-C-T c.3575G>A p.R1192Q Missense 23/29 - 10
2-29443641-C-A c.3576G>T p.R1192= Synonymous 23/29 - 1
2-29443641-C-G c.3576G>C p.R1192= Synonymous 23/29 - 1
2-29443641-C-T c.3576G>A p.R1192= Synonymous 23/29 - 1
2-29443643-G-A c.3574C>T p.R1192W Missense 23/29 - 6
2-29443643-G-C c.3574C>G p.R1192G Missense 23/29 - 5
2-29443643-G-T c.3574C>A p.R1192= Synonymous 23/29 - 1
2-29443644-G-A c.3573C>T p.P1191= Synonymous 23/29 - 1
2-29443644-G-C c.3573C>G p.P1191= Synonymous 23/29 - 1
2-29443644-G-T c.3573C>A p.P1191= Synonymous 23/29 - 1
2-29443645-G-A c.3572C>T p.P1191L Missense 23/29 - 1
2-29443645-GG-AA c.3571_3572delinsTT p.P1191F Missense 23/29 - 1
2-29443645-G-T c.3572C>A p.P1191H Missense 23/29 - 2
2-29443646-G-A c.3571C>T p.P1191S Missense 23/29 - 3
2-29443646-G-C c.3571C>G p.P1191A Missense 23/29 - 2
2-29443645-GGCA-G c.3569_3571del p.L1190del InFrameDeletion 23/29 - 2
2-29443647-C-A c.3570G>T p.L1190= Synonymous 23/29 - 2
2-29443647-C-G c.3570G>C p.L1190= Synonymous 23/29 - 1
2-29443647-C-T c.3570G>A p.L1190= Synonymous 23/29 - 1
2-29443649-G-A c.3568C>T p.L1190= Synonymous 23/29 - 1
2-29443648-A-G c.3569T>C p.L1190P Missense 23/29 - 3
2-29443649-G-T c.3568C>A p.L1190M Missense 23/29 - 6
2-29443650-G-A c.3567C>T p.S1189= Synonymous 23/29 - 5
2-29443650-G-C c.3567C>G p.S1189= Synonymous 23/29 - 2
2-29443650-G-T c.3567C>A p.S1189= Synonymous 23/29 - 2
2-29443651-G-A c.3566C>T p.S1189F Missense 23/29 - 1
2-29443651-G-C c.3566C>G p.S1189C Missense 23/29 - 1
2-29443651-G-T c.3566C>A p.S1189Y Missense 23/29 - 2
2-29443652-A-G c.3565T>C p.S1189P Missense 23/29 - 1
2-29443652-A-T c.3565T>A p.S1189T Missense 23/29 - 1
2-29443653-T-C c.3564A>G p.Q1188= Synonymous 23/29 - 2
2-29443654-T-C c.3563A>G p.Q1188R Missense 23/29 - 1
2-29443655-G-A c.3562C>T p.Q1188* Nonsense 23/29 - 4
2-29443655-G-T c.3562C>A p.Q1188K Missense 23/29 - 1
2-29443656-C-A c.3561G>T p.L1187= Synonymous 23/29 - 2
2-29443656-C-G c.3561G>C p.L1187= Synonymous 23/29 - 1
2-29443656-C-T c.3561G>A p.L1187= Synonymous 23/29 - 1
2-29443657-A-G c.3560T>C p.L1187P Missense 23/29 - 3
2-29443658-G-A c.3559C>T p.L1187= Synonymous 23/29 - 2
2-29443659-G-A c.3558C>T p.S1186= Synonymous 23/29 - 2
2-29443659-G-C c.3558C>G p.S1186R Missense 23/29 - 1
2-29443659-GCT-TCA c.3556_3558delinsTGA p.S1186* Nonsense 23/29 - 1
2-29443659-G-T c.3558C>A p.S1186R Missense 23/29 - 1
2-29443661-T-G c.3556A>C p.S1186R Missense 23/29 - 1
2-29443660-C-T c.3557G>A p.S1186N Missense 23/29 - 3
2-29443660-CT-AA c.3556_3557delinsTT p.S1186F Missense 23/29 - 1
2-29443661-T-C c.3556A>G p.S1186G Missense 23/29 - 2
2-29443662-C-A c.3555G>T p.V1185= Synonymous 23/29 - 1
2-29443662-C-G c.3555G>C p.V1185= Synonymous 23/29 - 1
2-29443662-C-T c.3555G>A p.V1185= Synonymous 23/29 - 1
2-29443663-A-C c.3554T>G p.V1185G Missense 23/29 - 1
2-29443663-A-G c.3554T>C p.V1185A Missense 23/29 - 3
2-29443664-C-A c.3553G>T p.V1185L Missense 23/29 - 9
2-29443664-C-G c.3553G>C p.V1185L Missense 23/29 - 7
2-29443664-C-T c.3553G>A p.V1185M Missense 23/29 - 1
2-29443665-C-A c.3552G>T p.G1184= Synonymous 23/29 - 1
2-29443665-C-G c.3552G>C p.G1184= Synonymous 23/29 - 1
2-29443665-C-T c.3552G>A p.G1184= Synonymous 23/29 - 3
2-29443666-C-A c.3551G>T p.G1184V Missense 23/29 - 1
2-29443666-C-G c.3551G>C p.G1184A Missense 23/29 - 1
2-29443666-C-T c.3551G>A p.G1184E Missense 23/29 - 10
2-29443667-C-G c.3550G>C p.G1184R Missense 23/29 - 1
2-29443667-C-T c.3550G>A p.G1184R Missense 23/29 - 1
2-29443668-A-C c.3549T>G p.I1183M Missense 23/29 - 1
2-29443668-A-G c.3549T>C p.I1183= Synonymous 23/29 - 1
2-29443668-A-T c.3549T>A p.I1183= Synonymous 23/29 - 1
2-29443669-A-G c.3548T>C p.I1183T Missense 23/29 - 9
2-29443670-T-C c.3547A>G p.I1183V Missense 23/29 - 2
2-29443671-G-A c.3546C>T p.C1182= Synonymous 23/29 - 1
2-29443671-G-T c.3546C>A p.C1182* Nonsense 23/29 - 1
2-29443672-C-T c.3545G>A p.C1182Y Missense 23/29 - 3
2-29443673-A-G c.3544T>C p.C1182R Missense 23/29 - 1
2-29443674-G-A c.3543C>T p.R1181= Synonymous 23/29 - 1
2-29443674-G-C c.3543C>G p.R1181= Synonymous 23/29 - 1
2-29443674-G-T c.3543C>A p.R1181= Synonymous 23/29 - 1
2-29443675-C-T c.3542G>A p.R1181H Missense 23/29 - 17
2-29443676-G-A c.3541C>T p.R1181C Missense 23/29 - 19
2-29443676-G-T c.3541C>A p.R1181S Missense 23/29 - 1
2-29443677-A-C c.3540T>G p.V1180= Synonymous 23/29 - 1
2-29443677-A-G c.3540T>C p.V1180= Synonymous 23/29 - 1
2-29443677-A-T c.3540T>A p.V1180= Synonymous 23/29 - 1
2-29443678-A-G c.3539T>C p.V1180A Missense 23/29 - 2
2-29443678-A-T c.3539T>A p.V1180D Missense 23/29 - 1
2-29443679-C-G c.3538G>C p.V1180L Missense 23/29 - 128
2-29443679-C-T c.3538G>A p.V1180I Missense 23/29 - 3
2-29443680-A-G c.3537T>C p.I1179= Synonymous 23/29 - 1
2-29443680-A-T c.3537T>A p.I1179= Synonymous 23/29 - 1
2-29443681-A-G c.3536T>C p.I1179T Missense 23/29 - 2
2-29443682-T-C c.3535A>G p.I1179V Missense 23/29 - 4
2-29443683-G-A c.3534C>T p.N1178= Synonymous 23/29 - 1
2-29443685-T-C c.3532A>G p.N1178D Missense 23/29 - 1
2-29443685-T-G c.3532A>C p.N1178H Missense 23/29 - 5
2-29443686-C-A c.3531G>T p.Q1177H Missense 23/29 - 3
2-29443686-C-G c.3531G>C p.Q1177H Missense 23/29 - 4
2-29443686-C-T c.3531G>A p.Q1177= Synonymous 23/29 - 1
2-29443687-CT-C c.3530del p.Q1177Rfs*9 Frameshift 23/29 - 1
2-29443687-T-C c.3530A>G p.Q1177R Missense 23/29 - 1
2-29443687-T-G c.3530A>C p.Q1177P Missense 23/29 - 1
2-29443688-G-A c.3529C>T p.Q1177* Nonsense 23/29 - 2
2-29443689-G-A c.3528C>T p.H1176= Synonymous 23/29 - 1
2-29443690-T-C c.3527A>G p.H1176R Missense 23/29 - 1
2-29443691-G-A c.3526C>T p.H1176Y Missense 23/29 - 2
2-29443692-G-A c.3525C>T p.N1175= Synonymous 23/29 - 1
2-29443693-T-C c.3524A>G p.N1175S Missense 23/29 - 4
2-29443694-T-C c.3523A>G p.N1175D Missense 23/29 - 3
2-29443695-G-A c.3522C>T p.F1174= Synonymous 23/29 - 4
2-29443695-GAA-CTT c.3520_3522delinsAAG p.F1174K Missense 23/29 - 1
2-29443695-GA-TT c.3521_3522delinsAA p.F1174* Nonsense 23/29 - 11
2-29443696-A-C c.3521T>G p.F1174C Missense 23/29 - 196
2-29443696-A-G c.3521T>C p.F1174S Missense 23/29 - 48
2-29443696-A-T c.3521T>A p.F1174Y Missense 23/29 - 1
2-29443695-G-C c.3522C>G p.F1174L Missense 23/29 - 534
2-29443695-G-T c.3522C>A p.F1174L Missense 23/29 - 591
2-29443697-A-C c.3520T>G p.F1174V Missense 23/29 - 118
2-29443697-A-G c.3520T>C p.F1174L Missense 23/29 - 488
2-29443697-A-T c.3520T>A p.F1174I Missense 23/29 - 56
2-29443698-T-C c.3519A>G p.K1173= Synonymous 23/29 - 2
2-29443699-T-C c.3518A>G p.K1173R Missense 23/29 - 1
2-29443700-T-C c.3517A>G p.K1173E Missense 23/29 - 1
2-29443701-G-A c.3516C>T p.S1172= Synonymous 23/29 - 1
2-29443701-G-C c.3516C>G p.S1172R Missense 23/29 - 2
2-29443701-G-T c.3516C>A p.S1172R Missense 23/29 - 3
2-29445211-T-G c.3514A>C p.S1172R Missense 22/29 - 2
2-29443726-C-G c.3516-25G>C - IntronicSNV - 22/28 1
2-29443749-G-T c.3516-48C>A - IntronicSNV - 22/28 3
2-29443892-C-T c.3516-191G>A - IntronicSNV - 22/28 1
2-29443895-C-T c.3516-194G>A - IntronicSNV - 22/28 1
2-29443927-G-C c.3516-226C>G - IntronicSNV - 22/28 1
2-29443928-A-G c.3516-227T>C - IntronicSNV - 22/28 1
2-29443932-G-A c.3516-231C>T - IntronicSNV - 22/28 1
2-29443936-G-A c.3516-235C>T - IntronicSNV - 22/28 1
2-29443945-G-A c.3516-244C>T - IntronicSNV - 22/28 1
2-29443948-T-C c.3516-247A>G - IntronicSNV - 22/28 1
2-29444038-A-G c.3516-337T>C - IntronicSNV - 22/28 1
2-29444076-G-T c.3516-375C>A - IntronicSNV - 22/28 11
2-29444080-C-T c.3516-379G>A - IntronicSNV - 22/28 1
2-29444095-C-G c.3516-394G>C - IntronicSNV - 22/28 14
2-29444095-C-T c.3516-394G>A - IntronicSNV - 22/28 14
2-29444499-C-T c.3515+711G>A - IntronicSNV - 22/28 1
2-29444656-G-A c.3515+554C>T - IntronicSNV - 22/28 1
2-29444726-G-C c.3515+484C>G - IntronicSNV - 22/28 2
2-29445113-C-T c.3515+97G>A - IntronicSNV - 22/28 2
2-29445134-C-T c.3515+76G>A - IntronicSNV - 22/28 1
2-29445157-G-C c.3515+53C>G - IntronicSNV - 22/28 5
2-29445157-G-T c.3515+53C>A - IntronicSNV - 22/28 4
2-29445164-G-C c.3515+46C>G - IntronicSNV - 22/28 1
2-29445192-G-A c.3515+18C>T - IntronicSNV - 22/28 5
2-29445209-C-T c.3515+1G>A - IntronicSNV - 22/28 1
2-29445210-C-T c.3515G>A p.S1172N Missense 22/29 - 1
2-29445211-T-C c.3514A>G p.S1172G Missense 22/29 - 3
2-29445212-G-A c.3513C>T p.I1171= Synonymous 22/29 - 3
2-29445212-GAT-TTA c.3511_3513delinsTAA p.I1171* Nonsense 22/29 - 17
2-29445212-G-C c.3513C>G p.I1171M Missense 22/29 - 4
2-29445212-G-T c.3513C>A p.I1171= Synonymous 22/29 - 6
2-29445213-A-C c.3512T>G p.I1171S Missense 22/29 - 53
2-29445213-A-G c.3512T>C p.I1171T Missense 22/29 - 212
2-29445213-A-T c.3512T>A p.I1171N Missense 22/29 - 162
2-29445213-AT-GC c.3511_3512delinsGC p.I1171A Missense 22/29 - 1
2-29445213-AT-TG c.3511_3512delinsCA p.I1171H Missense 22/29 - 1
2-29445214-T-C c.3511A>G p.I1171V Missense 22/29 - 1
2-29445214-T-G c.3511A>C p.I1171L Missense 22/29 - 1
2-29445215-G-A c.3510C>T p.I1170= Synonymous 22/29 - 2
2-29445215-G-C c.3510C>G p.I1170M Missense 22/29 - 1
2-29445215-G-T c.3510C>A p.I1170= Synonymous 22/29 - 1
2-29445216-A-C c.3509T>G p.I1170S Missense 22/29 - 9
2-29445216-A-G c.3509T>C p.I1170T Missense 22/29 - 4
2-29445216-A-T c.3509T>A p.I1170N Missense 22/29 - 13
2-29445216-AT-GC c.3508_3509delinsGC p.I1170A Missense 22/29 - 1
2-29445217-T-C c.3508A>G p.I1170V Missense 22/29 - 2
2-29445217-T-G c.3508A>C p.I1170L Missense 22/29 - 1
2-29445218-C-A c.3507G>T p.L1169= Synonymous 22/29 - 7
2-29445218-C-G c.3507G>C p.L1169= Synonymous 22/29 - 9
2-29445218-C-T c.3507G>A p.L1169= Synonymous 22/29 - 7
2-29445220-G-A c.3505C>T p.L1169= Synonymous 22/29 - 7
2-29445219-A-G c.3506T>C p.L1169P Missense 22/29 - 1
2-29445219-A-T c.3506T>A p.L1169Q Missense 22/29 - 1
2-29445220-G-T c.3505C>A p.L1169M Missense 22/29 - 3
2-29445221-G-A c.3504C>T p.A1168= Synonymous 22/29 - 1
2-29445221-G-C c.3504C>G p.A1168= Synonymous 22/29 - 1
2-29445221-G-T c.3504C>A p.A1168= Synonymous 22/29 - 1
2-29445222-G-A c.3503C>T p.A1168V Missense 22/29 - 1
2-29445222-G-C c.3503C>G p.A1168G Missense 22/29 - 1
2-29445222-G-T c.3503C>A p.A1168D Missense 22/29 - 2
2-29445223-C-G c.3502G>C p.A1168P Missense 22/29 - 1
2-29445223-C-T c.3502G>A p.A1168T Missense 22/29 - 3
2-29445224-T-C c.3501A>G p.E1167= Synonymous 22/29 - 1
2-29445225-T-C c.3500A>G p.E1167G Missense 22/29 - 1
2-29445225-T-G c.3500A>C p.E1167A Missense 22/29 - 4
2-29445226-C-A c.3499G>T p.E1167* Nonsense 22/29 - 1
2-29445226-C-T c.3499G>A p.E1167K Missense 22/29 - 1
2-29445227-C-A c.3498G>T p.M1166I Missense 22/29 - 2
2-29445227-CA-GT c.3497_3498delinsAC p.M1166N Missense 22/29 - 2
2-29445227-C-G c.3498G>C p.M1166I Missense 22/29 - 2
2-29445227-C-T c.3498G>A p.M1166I Missense 22/29 - 3
2-29445228-A-C c.3497T>G p.M1166R Missense 22/29 - 26
2-29445228-A-G c.3497T>C p.M1166T Missense 22/29 - 1
2-29445228-A-T c.3497T>A p.M1166K Missense 22/29 - 2
2-29445229-T-A c.3496A>T p.M1166L Missense 22/29 - 1
2-29445229-T-C c.3496A>G p.M1166V Missense 22/29 - 1
2-29445229-T-G c.3496A>C p.M1166L Missense 22/29 - 1
2-29445230-G-A c.3495C>T p.L1165= Synonymous 22/29 - 2
2-29445230-G-C c.3495C>G p.L1165= Synonymous 22/29 - 2
2-29445230-G-T c.3495C>A p.L1165= Synonymous 22/29 - 1
2-29445231-A-G c.3494T>C p.L1165P Missense 22/29 - 1
2-29445231-A-T c.3494T>A p.L1165H Missense 22/29 - 1
2-29445232-G-A c.3493C>T p.L1165F Missense 22/29 - 1
2-29445232-G-T c.3493C>A p.L1165I Missense 22/29 - 1
2-29445233-G-A c.3492C>T p.F1164= Synonymous 22/29 - 4
2-29445234-A-G c.3491T>C p.F1164S Missense 22/29 - 2
2-29445233-G-C c.3492C>G p.F1164L Missense 22/29 - 1
2-29445233-G-T c.3492C>A p.F1164L Missense 22/29 - 1
2-29445235-A-C c.3490T>G p.F1164V Missense 22/29 - 1
2-29445235-A-G c.3490T>C p.F1164L Missense 22/29 - 1
2-29445236-A-G c.3489T>C p.D1163= Synonymous 22/29 - 1
2-29445237-T-C c.3488A>G p.D1163G Missense 22/29 - 1
2-29445237-T-G c.3488A>C p.D1163A Missense 22/29 - 2
2-29445238-C-G c.3487G>C p.D1163H Missense 22/29 - 1
2-29445238-C-T c.3487G>A p.D1163N Missense 22/29 - 5
2-29445239-C-A c.3486G>T p.L1162= Synonymous 22/29 - 1
2-29445239-C-G c.3486G>C p.L1162= Synonymous 22/29 - 1
2-29445239-C-T c.3486G>A p.L1162= Synonymous 22/29 - 1
2-29445241-G-A c.3484C>T p.L1162= Synonymous 22/29 - 1
2-29445240-A-G c.3485T>C p.L1162P Missense 22/29 - 2
2-29445240-A-T c.3485T>A p.L1162Q Missense 22/29 - 1
2-29445242-T-C c.3483A>G p.E1161= Synonymous 22/29 - 1
2-29445243-T-C c.3482A>G p.E1161G Missense 22/29 - 1
2-29445243-TC-GT c.3481_3482delinsAC p.E1161T Missense 22/29 - 1
2-29445243-T-G c.3482A>C p.E1161A Missense 22/29 - 4
2-29445244-C-T c.3481G>A p.E1161K Missense 22/29 - 13
2-29445245-G-A c.3480C>T p.D1160= Synonymous 22/29 - 2
2-29445246-T-C c.3479A>G p.D1160G Missense 22/29 - 2
2-29445247-C-G c.3478G>C p.D1160H Missense 22/29 - 1
2-29445247-C-T c.3478G>A p.D1160N Missense 22/29 - 3
2-29445248-C-T c.3477G>A p.Q1159= Synonymous 22/29 - 1
2-29445249-T-A c.3476A>T p.Q1159L Missense 22/29 - 3
2-29445249-T-C c.3476A>G p.Q1159R Missense 22/29 - 1
2-29445250-G-A c.3475C>T p.Q1159* Nonsense 22/29 - 2
2-29445250-G-C c.3475C>G p.Q1159E Missense 22/29 - 1
2-29445251-T-C c.3474A>G p.E1158= Synonymous 22/29 - 1
2-29445252-T-C c.3473A>G p.E1158G Missense 22/29 - 1
2-29445253-C-G c.3472G>C p.E1158Q Missense 22/29 - 2
2-29445253-C-T c.3472G>A p.E1158K Missense 22/29 - 1
2-29445254-A-C c.3471T>G p.S1157= Synonymous 22/29 - 1
2-29445254-A-G c.3471T>C p.S1157= Synonymous 22/29 - 1
2-29445254-A-T c.3471T>A p.S1157= Synonymous 22/29 - 1
2-29445255-G-A c.3470C>T p.S1157F Missense 22/29 - 1
2-29445250-GTTCAGAGCACAC-G c.3463_3474del p.V1155_E1158del InFrameDeletion 22/29 - 1
2-29445256-A-G c.3469T>C p.S1157P Missense 22/29 - 1
2-29445256-A-T c.3469T>A p.S1157T Missense 22/29 - 1
2-29445257-G-A c.3468C>T p.C1156= Synonymous 22/29 - 5
2-29445258-C-A c.3467G>T p.C1156F Missense 22/29 - 12
2-29445258-CA-GT c.3466_3467delinsAC p.C1156T Missense 22/29 - 4
2-29445258-C-T c.3467G>A p.C1156Y Missense 22/29 - 404
2-29445258-C-G c.3467G>C p.C1156S Missense 22/29 - 4
2-29445259-A-C c.3466T>G p.C1156G Missense 22/29 - 1
2-29445259-A-G c.3466T>C p.C1156R Missense 22/29 - 1
2-29445259-A-T c.3466T>A p.C1156S Missense 22/29 - 5
2-29445260-C-A c.3465G>T p.V1155= Synonymous 22/29 - 1
2-29445260-C-G c.3465G>C p.V1155= Synonymous 22/29 - 1
2-29445260-C-T c.3465G>A p.V1155= Synonymous 22/29 - 1
2-29445261-A-C c.3464T>G p.V1155G Missense 22/29 - 2
2-29445261-A-G c.3464T>C p.V1155A Missense 22/29 - 1
2-29445262-C-A c.3463G>T p.V1155L Missense 22/29 - 1
2-29445262-C-G c.3463G>C p.V1155L Missense 22/29 - 1
2-29445262-C-T c.3463G>A p.V1155M Missense 22/29 - 1
2-29445263-T-A c.3462A>T p.E1154D Missense 22/29 - 1
2-29445263-T-C c.3462A>G p.E1154= Synonymous 22/29 - 1
2-29445263-T-G c.3462A>C p.E1154D Missense 22/29 - 1
2-29445264-T-C c.3461A>G p.E1154G Missense 22/29 - 1
2-29445264-T-G c.3461A>C p.E1154A Missense 22/29 - 2
2-29445265-C-G c.3460G>C p.E1154Q Missense 22/29 - 2
2-29445265-C-T c.3460G>A p.E1154K Missense 22/29 - 9
2-29445266-A-G c.3459T>C p.P1153= Synonymous 22/29 - 2
2-29445267-G-A c.3458C>T p.P1153L Missense 22/29 - 2
2-29445267-G-C c.3458C>G p.P1153R Missense 22/29 - 1
2-29445268-G-A c.3457C>T p.P1153S Missense 22/29 - 4
2-29445269-C-A c.3456G>T p.L1152= Synonymous 22/29 - 1
2-29445269-C-G c.3456G>C p.L1152= Synonymous 22/29 - 1
2-29445269-C-T c.3456G>A p.L1152= Synonymous 22/29 - 1
2-29445271-G-A c.3454C>T p.L1152= Synonymous 22/29 - 1
2-29445270-A-C c.3455T>G p.L1152R Missense 22/29 - 191
2-29445270-A-G c.3455T>C p.L1152P Missense 22/29 - 46
2-29445271-G-C c.3454C>G p.L1152V Missense 22/29 - 6
2-29445271-G-GTGT c.3453_3454insACA p.T1151dup InFrameInsertion 22/29 - 2
2-29445272-C-A c.3453G>T p.T1151= Synonymous 22/29 - 1
2-29445272-C-G c.3453G>C p.T1151= Synonymous 22/29 - 1
2-29445272-CG-GA c.3452_3453delinsTC p.T1151I Missense 22/29 - 1
2-29445272-CGT-ACA c.3451_3453delinsTGT p.T1151C Missense 22/29 - 1
2-29445272-C-T c.3453G>A p.T1151= Synonymous 22/29 - 1
2-29445273-G-A c.3452C>T p.T1151M Missense 22/29 - 58
2-29445273-G-C c.3452C>G p.T1151R Missense 22/29 - 21
2-29445273-G-T c.3452C>A p.T1151K Missense 22/29 - 19
2-29445274-T-A c.3451A>T p.T1151S Missense 22/29 - 1
2-29445274-T-C c.3451A>G p.T1151A Missense 22/29 - 2
2-29445304-G-A c.3451-30C>T - IntronicSNV - 21/28 1
2-29445332-C-T c.3450+51G>A - IntronicSNV - 21/28 1
2-29445367-G-A c.3450+16C>T - IntronicSNV - 21/28 1
2-29445381-A-AC c.3450+1dup - SpliceDonorInsertion 21/29 - 1
2-29445383-C-A c.3450G>T p.K1150N Missense 21/29 - 4
2-29445383-C-G c.3450G>C p.K1150N Missense 21/29 - 3
2-29445384-T-A c.3449A>T p.K1150M Missense 21/29 - 3
2-29445384-T-C c.3449A>G p.K1150R Missense 21/29 - 4
2-29445384-TT-GC c.3448_3449delinsGC p.K1150A Missense 21/29 - 1
2-29445385-T-C c.3448A>G p.K1150E Missense 21/29 - 1
2-29445387-A-C c.3446T>G p.V1149G Missense 21/29 - 1
2-29445387-A-G c.3446T>C p.V1149A Missense 21/29 - 4
2-29445387-A-T c.3446T>A p.V1149E Missense 21/29 - 1
2-29445388-C-A c.3445G>T p.V1149L Missense 21/29 - 2
2-29445388-C-G c.3445G>C p.V1149L Missense 21/29 - 2
2-29445389-A-G c.3444T>C p.A1148= Synonymous 21/29 - 1
2-29445390-G-A c.3443C>T p.A1148V Missense 21/29 - 3
2-29445393-A-C c.3440T>G p.V1147G Missense 21/29 - 1
2-29445394-C-A c.3439G>T p.V1147L Missense 21/29 - 1
2-29445394-C-G c.3439G>C p.V1147L Missense 21/29 - 1
2-29445394-C-T c.3439G>A p.V1147M Missense 21/29 - 1
2-29445395-T-A c.3438A>T p.Q1146H Missense 21/29 - 1
2-29445395-T-G c.3438A>C p.Q1146H Missense 21/29 - 1
2-29445396-T-C c.3437A>G p.Q1146R Missense 21/29 - 1
2-29445396-T-G c.3437A>C p.Q1146P Missense 21/29 - 1
2-29445396-TG-GA c.3436_3437delinsTC p.Q1146S Missense 21/29 - 1
2-29445397-G-T c.3436C>A p.Q1146K Missense 21/29 - 3
2-29445399-A-C c.3434T>G p.L1145R Missense 21/29 - 1
2-29445400-G-T c.3433C>A p.L1145M Missense 21/29 - 2
2-29445402-G-A c.3431C>T p.P1144L Missense 21/29 - 3
2-29445403-G-A c.3430C>T p.P1144S Missense 21/29 - 1
2-29445407-T-G c.3426A>C p.P1142= Synonymous 21/29 - 2
2-29445408-G-T c.3425C>A p.P1142Q Missense 21/29 - 2
2-29445409-G-A c.3424C>T p.P1142S Missense 21/29 - 2
2-29445411-T-G c.3422A>C p.D1141A Missense 21/29 - 1
2-29445412-C-A c.3421G>T p.D1141Y Missense 21/29 - 1
2-29445412-C-T c.3421G>A p.D1141N Missense 21/29 - 5
2-29445413-G-A c.3420C>T p.N1140= Synonymous 21/29 - 2
2-29445413-G-T c.3420C>A p.N1140K Missense 21/29 - 3
2-29445415-T-C c.3418A>G p.N1140D Missense 21/29 - 1
2-29445417-G-A c.3416C>T p.P1139L Missense 21/29 - 1
2-29445418-G-A c.3415C>T p.P1139S Missense 21/29 - 4
2-29445419-C-A c.3414G>T p.M1138I Missense 21/29 - 1
2-29445419-C-G c.3414G>C p.M1138I Missense 21/29 - 1
2-29445419-C-T c.3414G>A p.M1138I Missense 21/29 - 3
2-29445420-A-T c.3413T>A p.M1138K Missense 21/29 - 4
2-29445421-T-C c.3412A>G p.M1138V Missense 21/29 - 1
2-29445424-C-G c.3409G>C p.G1137R Missense 21/29 - 7
2-29445424-C-T c.3409G>A p.G1137R Missense 21/29 - 8
2-29445425-G-A c.3408C>T p.S1136= Synonymous 21/29 - 8
2-29445425-G-C c.3408C>G p.S1136= Synonymous 21/29 - 1
2-29445425-G-T c.3408C>A p.S1136= Synonymous 21/29 - 1
2-29445426-G-A c.3407C>T p.S1136F Missense 21/29 - 2
2-29445429-A-T c.3404T>A p.V1135E Missense 21/29 - 3
2-29445432-T-A c.3401A>T p.Q1134L Missense 21/29 - 1
2-29445433-G-C c.3400C>G p.Q1134E Missense 21/29 - 1
2-29445434-G-A c.3399C>T p.G1133= Synonymous 21/29 - 1
2-29445435-C-A c.3398G>T p.G1133V Missense 21/29 - 1
2-29445435-C-T c.3398G>A p.G1133D Missense 21/29 - 1
2-29445436-C-T c.3397G>A p.G1133S Missense 21/29 - 2
2-29445438-T-C c.3395A>G p.E1132G Missense 21/29 - 1
2-29445439-C-T c.3394G>A p.E1132K Missense 21/29 - 3
2-29445440-A-G c.3393T>C p.Y1131= Synonymous 21/29 - 1
2-29445441-T-A c.3392A>T p.Y1131F Missense 21/29 - 1
2-29445443-C-A c.3390G>T p.V1130= Synonymous 21/29 - 1
2-29445445-C-A c.3388G>T p.V1130L Missense 21/29 - 2
2-29445445-C-G c.3388G>C p.V1130L Missense 21/29 - 1
2-29445445-C-T c.3388G>A p.V1130M Missense 21/29 - 3
2-29445446-C-A c.3387G>T p.E1129D Missense 21/29 - 1
2-29445446-C-G c.3387G>C p.E1129D Missense 21/29 - 1
2-29445447-T-A c.3386A>T p.E1129V Missense 21/29 - 3
2-29445447-T-C c.3386A>G p.E1129G Missense 21/29 - 1
2-29445447-T-G c.3386A>C p.E1129A Missense 21/29 - 1
2-29445448-C-T c.3385G>A p.E1129K Missense 21/29 - 2
2-29445449-CCC-GCT c.3382_3384delinsAGC p.G1128S Missense 21/29 - 5
2-29445450-C-A c.3383G>T p.G1128V Missense 21/29 - 2
2-29445450-C-G c.3383G>C p.G1128A Missense 21/29 - 66
2-29445450-C-T c.3383G>A p.G1128E Missense 21/29 - 2
2-29445447-T-TC c.3385dup p.E1129Gfs*4 Frameshift 21/29 - 1
2-29445451-C-A c.3382G>T p.G1128W Missense 21/29 - 1
2-29445451-C-G c.3382G>C p.G1128R Missense 21/29 - 2
2-29445451-C-T c.3382G>A p.G1128R Missense 21/29 - 3
2-29445453-A-G c.3380T>C p.F1127S Missense 21/29 - 1
2-29445454-A-G c.3379T>C p.F1127L Missense 21/29 - 1
2-29445456-G-C c.3377C>G p.A1126G Missense 21/29 - 1
2-29445457-C-T c.3376G>A p.A1126T Missense 21/29 - 2
2-29445458-G-A c.3375C>T p.G1125= Synonymous 21/29 - 24
2-29445458-G-C c.3375C>G p.G1125= Synonymous 21/29 - 3
2-29445458-G-T c.3375C>A p.G1125= Synonymous 21/29 - 33
2-29445459-C-A c.3374G>T p.G1125V Missense 21/29 - 3
2-29445459-C-G c.3374G>C p.G1125A Missense 21/29 - 1
2-29445461-A-G c.3372T>C p.H1124= Synonymous 21/29 - 1
2-29445461-A-T c.3372T>A p.H1124Q Missense 21/29 - 1
2-29445463-G-C c.3370C>G p.H1124D Missense 21/29 - 1
2-29445463-G-T c.3370C>A p.H1124N Missense 21/29 - 1
2-29445464-G-A c.3369C>T p.G1123= Synonymous 21/29 - 1
2-29445464-GGCCC-G c.3366_3369del p.G1123Mfs*26 Frameshift 21/29 - 1
2-29445465-C-G c.3368G>C p.G1123A Missense 21/29 - 1
2-29445465-C-T c.3368G>A p.G1123D Missense 21/29 - 9
2-29445466-C-T c.3367G>A p.G1123S Missense 21/29 - 50
2-29445469-G-C c.3364C>G p.L1122V Missense 21/29 - 7
2-29445471-C-A c.3362G>T p.G1121V Missense 21/29 - 3
2-29445471-C-T c.3362G>A p.G1121D Missense 21/29 - 16
2-29445472-C-T c.3361G>A p.G1121S Missense 21/29 - 3
2-29445574-C-A c.3360-101G>T - IntronicSNV - 20/28 1
2-29445574-C-G c.3360-101G>C - IntronicSNV - 20/28 1
2-29445574-C-T c.3360-101G>A - IntronicSNV - 20/28 1
2-29445602-G-C c.3360-129C>G - IntronicSNV - 20/28 1
2-29445798-T-C c.3360-325A>G - IntronicSNV - 20/28 2
2-29445798-T-G c.3360-325A>C - IntronicSNV - 20/28 2
2-29445809-T-C c.3360-336A>G - IntronicSNV - 20/28 2
2-29445982-G-C c.3359+226C>G - IntronicSNV - 20/28 2
2-29446043-C-A c.3359+165G>T - IntronicSNV - 20/28 1
2-29446128-A-G c.3359+80T>C - IntronicSNV - 20/28 5
2-29446178-C-G c.3359+30G>C - IntronicSNV - 20/28 1
2-29446184-C-A c.3359+24G>T - IntronicSNV - 20/28 4
2-29446184-C-G c.3359+24G>C - IntronicSNV - 20/28 11
2-29446184-C-T c.3359+24G>A - IntronicSNV - 20/28 4
2-29446191-G-A c.3359+17C>T - IntronicSNV - 20/28 1
2-29446202-G-A c.3359+6C>T - IntronicSNV - 20/28 12
2-29446207-C-T c.3359+1G>A - IntronicSNV - 20/28 1
2-29446208-C-A c.3359G>T p.R1120L Missense 20/29 - 2
2-29446208-C-T c.3359G>A p.R1120Q Missense 20/29 - 6
2-29446209-G-A c.3358C>T p.R1120W Missense 20/29 - 9
2-29446209-G-C c.3358C>G p.R1120G Missense 20/29 - 1
2-29446210-A-C c.3357T>G p.I1119M Missense 20/29 - 1
2-29446212-T-C c.3355A>G p.I1119V Missense 20/29 - 1
2-29446213-G-A c.3354C>T p.L1118= Synonymous 20/29 - 1
2-29446213-G-C c.3354C>G p.L1118= Synonymous 20/29 - 1
2-29446213-G-T c.3354C>A p.L1118= Synonymous 20/29 - 2
2-29446216-GG-CC c.3350_3351inv p.T1117R Missense 20/29 - 1
2-29446214-AG-A c.3352del p.L1118Sfs*32 Frameshift 20/29 - 1
2-29446217-G-A c.3350C>T p.T1117I Missense 20/29 - 3
2-29446217-G-C c.3350C>G p.T1117S Missense 20/29 - 1
2-29446217-G-T c.3350C>A p.T1117N Missense 20/29 - 2
2-29446219-G-C c.3348C>G p.I1116M Missense 20/29 - 1
2-29446220-A-G c.3347T>C p.I1116T Missense 20/29 - 1
2-29446222-G-A c.3345C>T p.N1115= Synonymous 20/29 - 1
2-29446222-G-C c.3345C>G p.N1115K Missense 20/29 - 1
2-29446222-G-T c.3345C>A p.N1115K Missense 20/29 - 1
2-29446222-GT-CA c.3344_3345delinsTG p.N1115M Missense 20/29 - 1
2-29446222-GT-CC c.3344_3345delinsGG p.N1115R Missense 20/29 - 1
2-29446222-GTT-CTC c.3343_3345delinsGAG p.N1115E Missense 20/29 - 1
2-29446222-GTT-TTG c.3343_3345delinsCAA p.N1115Q Missense 20/29 - 1
2-29446223-T-A c.3344A>T p.N1115I Missense 20/29 - 1
2-29446223-T-C c.3344A>G p.N1115S Missense 20/29 - 1
2-29446223-T-G c.3344A>C p.N1115T Missense 20/29 - 1
2-29446223-TT-AA c.3343_3344inv p.N1115F Missense 20/29 - 1
2-29446223-TT-AC c.3343_3344delinsGT p.N1115V Missense 20/29 - 1
2-29446223-TT-AG c.3343_3344delinsCT p.N1115L Missense 20/29 - 1
2-29446223-TT-CA c.3343_3344delinsTG p.N1115C Missense 20/29 - 1
2-29446223-TT-CC c.3343_3344delinsGG p.N1115G Missense 20/29 - 1
2-29446223-TT-GC c.3343_3344delinsGC p.N1115A Missense 20/29 - 1
2-29446223-TT-GG c.3343_3344delinsCC p.N1115P Missense 20/29 - 1
2-29446224-T-C c.3343A>G p.N1115D Missense 20/29 - 2
2-29446224-T-G c.3343A>C p.N1115H Missense 20/29 - 1
2-29446225-T-A c.3342A>T p.K1114N Missense 20/29 - 1
2-29446225-T-C c.3342A>G p.K1114= Synonymous 20/29 - 1
2-29446225-T-G c.3342A>C p.K1114N Missense 20/29 - 1
2-29446225-TT-CA c.3341_3342delinsTG p.K1114M Missense 20/29 - 2
2-29446225-TT-GC c.3341_3342delinsGC p.K1114S Missense 20/29 - 1
2-29446225-TTT-AAA c.3340_3342inv p.K1114F Missense 20/29 - 1
2-29446225-TTT-ACA c.3340_3342delinsTGT p.K1114C Missense 20/29 - 1
2-29446225-TTT-ATA c.3340_3342delinsTAT p.K1114Y Missense 20/29 - 1
2-29446225-TTT-ATG c.3340_3342delinsCAT p.K1114H Missense 20/29 - 1
2-29446225-TTT-CCA c.3340_3342delinsTGG p.K1114W Missense 20/29 - 1
2-29446225-TTT-GTC c.3340_3342delinsGAC p.K1114D Missense 20/29 - 1
2-29446226-T-A c.3341A>T p.K1114I Missense 20/29 - 1
2-29446226-T-C c.3341A>G p.K1114R Missense 20/29 - 3
2-29446226-T-G c.3341A>C p.K1114T Missense 20/29 - 1
2-29446226-TT-AC c.3340_3341delinsGT p.K1114V Missense 20/29 - 1
2-29446226-TT-AG c.3340_3341delinsCT p.K1114L Missense 20/29 - 1
2-29446226-TT-CC c.3340_3341delinsGG p.K1114G Missense 20/29 - 1
2-29446226-TT-GC c.3340_3341delinsGC p.K1114A Missense 20/29 - 1
2-29446226-TT-GG c.3340_3341delinsCC p.K1114P Missense 20/29 - 1
2-29446227-T-C c.3340A>G p.K1114E Missense 20/29 - 1
2-29446227-T-G c.3340A>C p.K1114Q Missense 20/29 - 1
2-29446228-CC-AT c.3338_3339delinsAT p.R1113H Missense 20/29 - 1
2-29446228-CCG-AAA c.3337_3339delinsTTT p.R1113F Missense 20/29 - 1
2-29446228-CCG-ACA c.3337_3339delinsTGT p.R1113C Missense 20/29 - 1
2-29446228-CCG-ATA c.3337_3339delinsTAT p.R1113Y Missense 20/29 - 1
2-29446228-CCG-GAT c.3337_3339delinsATC p.R1113I Missense 20/29 - 1
2-29446228-CCG-GCT c.3337_3339delinsAGC p.R1113S Missense 20/29 - 1
2-29446228-CCG-GTC c.3337_3339delinsGAC p.R1113D Missense 20/29 - 1
2-29446228-CCG-GTT c.3337_3339delinsAAC p.R1113N Missense 20/29 - 1
2-29446229-C-A c.3338G>T p.R1113L Missense 20/29 - 2
2-29446229-C-G c.3338G>C p.R1113P Missense 20/29 - 1
2-29446229-CG-AC c.3337_3338delinsGT p.R1113V Missense 20/29 - 1
2-29446229-CG-AT c.3337_3338delinsAT p.R1113M Missense 20/29 - 1
2-29446229-CG-GC c.3337_3338delinsGC p.R1113A Missense 20/29 - 1
2-29446229-CG-GT c.3337_3338delinsAC p.R1113T Missense 20/29 - 1
2-29446229-CG-TC c.3337_3338delinsGA p.R1113E Missense 20/29 - 1
2-29446229-CG-TT c.3337_3338delinsAA p.R1113K Missense 20/29 - 1
2-29446229-C-T c.3338G>A p.R1113Q Missense 20/29 - 7
2-29446228-C-A c.3339G>T p.R1113= Synonymous 20/29 - 3
2-29446228-C-G c.3339G>C p.R1113= Synonymous 20/29 - 3
2-29446228-C-T c.3339G>A p.R1113= Synonymous 20/29 - 3
2-29446230-G-A c.3337C>T p.R1113W Missense 20/29 - 7
2-29446230-G-C c.3337C>G p.R1113G Missense 20/29 - 1
2-29446230-G-T c.3337C>A p.R1113= Synonymous 20/29 - 6
2-29446231-C-A c.3336G>T p.P1112= Synonymous 20/29 - 5
2-29446231-C-G c.3336G>C p.P1112= Synonymous 20/29 - 5
2-29446231-CG-AT c.3335_3336delinsAT p.P1112H Missense 20/29 - 1
2-29446231-CGG-AAA c.3334_3336delinsTTT p.P1112F Missense 20/29 - 1
2-29446231-CGG-ACA c.3334_3336delinsTGT p.P1112C Missense 20/29 - 1
2-29446231-CGG-ATA c.3334_3336delinsTAT p.P1112Y Missense 20/29 - 1
2-29446231-CGG-GAT c.3334_3336delinsATC p.P1112I Missense 20/29 - 1
2-29446231-CGG-GTC c.3334_3336delinsGAC p.P1112D Missense 20/29 - 1
2-29446231-CGG-GTT c.3334_3336delinsAAC p.P1112N Missense 20/29 - 1
2-29446231-C-T c.3336G>A p.P1112= Synonymous 20/29 - 11
2-29446232-G-A c.3335C>T p.P1112L Missense 20/29 - 6
2-29446232-G-C c.3335C>G p.P1112R Missense 20/29 - 1
2-29446232-GG-AC c.3334_3335delinsGT p.P1112V Missense 20/29 - 1
2-29446232-GG-AT c.3334_3335delinsAT p.P1112M Missense 20/29 - 1
2-29446232-GG-CA c.3334_3335delinsTG p.P1112W Missense 20/29 - 1
2-29446232-GG-CC c.3334_3335inv p.P1112G Missense 20/29 - 1
2-29446232-GG-TC c.3334_3335delinsGA p.P1112E Missense 20/29 - 1
2-29446232-GG-TT c.3334_3335delinsAA p.P1112K Missense 20/29 - 1
2-29446232-G-T c.3335C>A p.P1112Q Missense 20/29 - 3
2-29446233-G-A c.3334C>T p.P1112S Missense 20/29 - 1
2-29446233-G-C c.3334C>G p.P1112A Missense 20/29 - 1
2-29446233-G-T c.3334C>A p.P1112T Missense 20/29 - 2
2-29446234-C-A c.3333G>T p.V1111= Synonymous 20/29 - 1
2-29446234-CAC-AAA c.3331_3333delinsTTT p.V1111F Missense 20/29 - 1
2-29446234-CAC-ACA c.3331_3333delinsTGT p.V1111C Missense 20/29 - 1
2-29446234-CAC-ATA c.3331_3333delinsTAT p.V1111Y Missense 20/29 - 1
2-29446234-CAC-ATG c.3331_3333delinsCAT p.V1111H Missense 20/29 - 1
2-29446234-CAC-GAT c.3331_3333delinsATC p.V1111I Missense 20/29 - 1
2-29446234-CAC-GTT c.3331_3333delinsAAC p.V1111N Missense 20/29 - 1
2-29446234-CA-GT c.3332_3333delinsAC p.V1111D Missense 20/29 - 1
2-29446234-C-G c.3333G>C p.V1111= Synonymous 20/29 - 1
2-29446234-C-T c.3333G>A p.V1111= Synonymous 20/29 - 1
2-29446235-A-C c.3332T>G p.V1111G Missense 20/29 - 1
2-29446235-AC-CA c.3331_3332delinsTG p.V1111W Missense 20/29 - 1
2-29446235-AC-CT c.3331_3332delinsAG p.V1111R Missense 20/29 - 1
2-29446235-AC-GA c.3331_3332delinsTC p.V1111S Missense 20/29 - 1
2-29446235-AC-GG c.3331_3332delinsCC p.V1111P Missense 20/29 - 1
2-29446235-AC-GT c.3331_3332inv p.V1111T Missense 20/29 - 1
2-29446235-AC-TG c.3331_3332delinsCA p.V1111Q Missense 20/29 - 1
2-29446235-AC-TT c.3331_3332delinsAA p.V1111K Missense 20/29 - 1
2-29446235-A-G c.3332T>C p.V1111A Missense 20/29 - 2
2-29446235-A-T c.3332T>A p.V1111E Missense 20/29 - 1
2-29446236-C-A c.3331G>T p.V1111L Missense 20/29 - 6
2-29446236-C-G c.3331G>C p.V1111L Missense 20/29 - 2
2-29446236-C-T c.3331G>A p.V1111M Missense 20/29 - 2
2-29446237-C-A c.3330G>T p.E1110D Missense 20/29 - 2
2-29446237-C-G c.3330G>C p.E1110D Missense 20/29 - 6
2-29446239-C-A c.3328G>T p.E1110* Nonsense 20/29 - 1
2-29446239-C-T c.3328G>A p.E1110K Missense 20/29 - 5
2-29446240-C-A c.3327G>T p.K1109N Missense 20/29 - 3
2-29446240-C-G c.3327G>C p.K1109N Missense 20/29 - 1
2-29446240-C-T c.3327G>A p.K1109= Synonymous 20/29 - 1
2-29446241-T-A c.3326A>T p.K1109M Missense 20/29 - 1
2-29446244-A-C c.3323T>G p.L1108R Missense 20/29 - 1
2-29446247-T-C c.3320A>G p.D1107G Missense 20/29 - 1
2-29446248-C-T c.3319G>A p.D1107N Missense 20/29 - 3
2-29446249-A-C c.3318T>G p.S1106R Missense 20/29 - 2
2-29446249-A-T c.3318T>A p.S1106R Missense 20/29 - 1
2-29446251-T-G c.3316A>C p.S1106R Missense 20/29 - 1
2-29446253-A-C c.3314T>G p.I1105S Missense 20/29 - 1
2-29446253-A-T c.3314T>A p.I1105N Missense 20/29 - 1
2-29446254-T-C c.3313A>G p.I1105V Missense 20/29 - 1
2-29446255-G-A c.3312C>T p.S1104= Synonymous 20/29 - 1
2-29446256-G-A c.3311C>T p.S1104F Missense 20/29 - 1
2-29446257-A-T c.3310T>A p.S1104T Missense 20/29 - 2
2-29446258-G-A c.3309C>T p.S1103= Synonymous 20/29 - 1
2-29446258-G-C c.3309C>G p.S1103= Synonymous 20/29 - 1
2-29446258-G-T c.3309C>A p.S1103= Synonymous 20/29 - 1
2-29446262-G-A c.3305C>T p.T1102I Missense 20/29 - 6
2-29446262-G-C c.3305C>G p.T1102S Missense 20/29 - 1
2-29446262-G-T c.3305C>A p.T1102N Missense 20/29 - 2
2-29446263-T-A c.3304A>T p.T1102S Missense 20/29 - 1
2-29446264-C-A c.3303G>T p.K1101N Missense 20/29 - 1
2-29446264-C-G c.3303G>C p.K1101N Missense 20/29 - 2
2-29446266-T-C c.3301A>G p.K1101E Missense 20/29 - 1
2-29446267-G-A c.3300C>T p.G1100= Synonymous 20/29 - 2
2-29446267-G-C c.3300C>G p.G1100= Synonymous 20/29 - 1
2-29446267-G-T c.3300C>A p.G1100= Synonymous 20/29 - 2
2-29446268-C-T c.3299G>A p.G1100D Missense 20/29 - 2
2-29446269-C-A c.3298G>T p.G1100C Missense 20/29 - 2
2-29446269-C-T c.3298G>A p.G1100S Missense 20/29 - 1
2-29446271-G-A c.3296C>T p.A1099V Missense 20/29 - 2
2-29446271-G-C c.3296C>G p.A1099G Missense 20/29 - 1
2-29446272-C-T c.3295G>A p.A1099T Missense 20/29 - 3
2-29446272-CAA-C c.3293_3294del p.F1098Cfs*9 Frameshift 20/29 - 1
2-29446274-A-G c.3293T>C p.F1098S Missense 20/29 - 2
2-29446273-A-C c.3294T>G p.F1098L Missense 20/29 - 1
2-29446273-A-T c.3294T>A p.F1098L Missense 20/29 - 1
2-29446275-A-C c.3292T>G p.F1098V Missense 20/29 - 1
2-29446275-A-G c.3292T>C p.F1098L Missense 20/29 - 1
2-29446276-G-A c.3291C>T p.C1097= Synonymous 20/29 - 1
2-29446276-G-C c.3291C>G p.C1097W Missense 20/29 - 2
2-29446276-GCA-CTT c.3289_3291delinsAAG p.C1097K Missense 20/29 - 1
2-29446277-CA-GC c.3289_3290delinsGC p.C1097A Missense 20/29 - 2
2-29446277-C-T c.3290G>A p.C1097Y Missense 20/29 - 3
2-29446277-C-G c.3290G>C p.C1097S Missense 20/29 - 2
2-29446278-A-G c.3289T>C p.C1097R Missense 20/29 - 1
2-29446278-A-T c.3289T>A p.C1097S Missense 20/29 - 2
2-29446279-G-A c.3288C>T p.Y1096= Synonymous 20/29 - 1
2-29446280-T-A c.3287A>T p.Y1096F Missense 20/29 - 1
2-29446280-TA-GC c.3286_3287delinsGC p.Y1096A Missense 20/29 - 1
2-29446282-G-C c.3285C>G p.N1095K Missense 20/29 - 1
2-29446285-G-A c.3282C>T p.P1094= Synonymous 20/29 - 1
2-29446285-G-C c.3282C>G p.P1094= Synonymous 20/29 - 1
2-29446285-G-T c.3282C>A p.P1094= Synonymous 20/29 - 1
2-29446286-G-C c.3281C>G p.P1094R Missense 20/29 - 1
2-29446286-G-T c.3281C>A p.P1094H Missense 20/29 - 3
2-29446289-T-C c.3278A>G p.N1093S Missense 20/29 - 1
2-29446291-G-C c.3276C>G p.Y1092* Nonsense 20/29 - 1
2-29446291-G-T c.3276C>A p.Y1092* Nonsense 20/29 - 1
2-29446292-T-C c.3275A>G p.Y1092C Missense 20/29 - 1
2-29446292-T-G c.3275A>C p.Y1092S Missense 20/29 - 1
2-29446295-T-C c.3272A>G p.D1091G Missense 20/29 - 1
2-29446295-T-G c.3272A>C p.D1091A Missense 20/29 - 1
2-29446296-C-T c.3271G>A p.D1091N Missense 20/29 - 36
2-29446297-G-A c.3270C>T p.T1090= Synonymous 20/29 - 2
2-29446297-G-C c.3270C>G p.T1090= Synonymous 20/29 - 1
2-29446297-G-T c.3270C>A p.T1090= Synonymous 20/29 - 1
2-29446298-G-A c.3269C>T p.T1090I Missense 20/29 - 1
2-29446299-T-G c.3268A>C p.T1090P Missense 20/29 - 1
2-29446301-A-G c.3266T>C p.M1089T Missense 20/29 - 1
2-29446302-T-A c.3265A>T p.M1089L Missense 20/29 - 1
2-29446302-T-G c.3265A>C p.M1089L Missense 20/29 - 1
2-29446303-G-A c.3264C>T p.I1088= Synonymous 20/29 - 1
2-29446303-G-C c.3264C>G p.I1088M Missense 20/29 - 1
2-29446303-G-T c.3264C>A p.I1088= Synonymous 20/29 - 1
2-29446304-A-G c.3263T>C p.I1088T Missense 20/29 - 2
2-29446305-T-A c.3262A>T p.I1088F Missense 20/29 - 1
2-29446305-T-C c.3262A>G p.I1088V Missense 20/29 - 2
2-29446305-T-G c.3262A>C p.I1088L Missense 20/29 - 1
2-29446306-G-A c.3261C>T p.T1087= Synonymous 20/29 - 1
2-29446306-G-C c.3261C>G p.T1087= Synonymous 20/29 - 1
2-29446306-G-T c.3261C>A p.T1087= Synonymous 20/29 - 1
2-29446307-G-A c.3260C>T p.T1087I Missense 20/29 - 15
2-29446307-GT-AG c.3259_3260delinsCT p.T1087L Missense 20/29 - 1
2-29446308-T-C c.3259A>G p.T1087A Missense 20/29 - 1
2-29446308-T-G c.3259A>C p.T1087P Missense 20/29 - 2
2-29446309-C-A c.3258G>T p.S1086= Synonymous 20/29 - 1
2-29446309-C-G c.3258G>C p.S1086= Synonymous 20/29 - 1
2-29446309-C-T c.3258G>A p.S1086= Synonymous 20/29 - 1
2-29446310-G-A c.3257C>T p.S1086L Missense 20/29 - 9
2-29446310-G-C c.3257C>G p.S1086W Missense 20/29 - 2
2-29446313-G-T c.3254C>A p.T1085N Missense 20/29 - 2
2-29446315-GCG-TCA c.3250_3252delinsTGA p.R1084* Nonsense 20/29 - 1
2-29446316-C-T c.3251G>A p.R1084H Missense 20/29 - 8
2-29446317-G-A c.3250C>T p.R1084C Missense 20/29 - 5
2-29446317-G-C c.3250C>G p.R1084G Missense 20/29 - 1
2-29446317-G-T c.3250C>A p.R1084S Missense 20/29 - 1
2-29446320-G-A c.3247C>T p.L1083F Missense 20/29 - 1
2-29446322-T-C c.3245A>G p.K1082R Missense 20/29 - 1
2-29446324-G-C c.3243C>G p.S1081R Missense 20/29 - 3
2-29446324-G-T c.3243C>A p.S1081R Missense 20/29 - 2
2-29446326-T-G c.3241A>C p.S1081R Missense 20/29 - 1
2-29446325-C-T c.3242G>A p.S1081N Missense 20/29 - 1
2-29446330-C-A c.3237G>T p.K1079N Missense 20/29 - 2
2-29446330-C-G c.3237G>C p.K1079N Missense 20/29 - 2
2-29446330-C-T c.3237G>A p.K1079= Synonymous 20/29 - 1
2-29446333-G-A c.3234C>T p.Y1078= Synonymous 20/29 - 1
2-29446334-T-C c.3233A>G p.Y1078C Missense 20/29 - 4
2-29446335-A-G c.3232T>C p.Y1078H Missense 20/29 - 1
2-29446336-C-A c.3231G>T p.E1077D Missense 20/29 - 1
2-29446336-C-G c.3231G>C p.E1077D Missense 20/29 - 1
2-29446337-T-C c.3230A>G p.E1077G Missense 20/29 - 1
2-29446338-C-A c.3229G>T p.E1077* Nonsense 20/29 - 1
2-29446338-C-T c.3229G>A p.E1077K Missense 20/29 - 5
2-29446339-A-G c.3228T>C p.P1076= Synonymous 20/29 - 2
2-29446340-G-A c.3227C>T p.P1076L Missense 20/29 - 1
2-29446340-G-C c.3227C>G p.P1076R Missense 20/29 - 1
2-29446341-G-A c.3226C>T p.P1076S Missense 20/29 - 1
2-29446342-G-C c.3225C>G p.S1075R Missense 20/29 - 1
2-29446342-G-T c.3225C>A p.S1075R Missense 20/29 - 1
2-29446344-T-G c.3223A>C p.S1075R Missense 20/29 - 1
2-29446343-C-A c.3224G>T p.S1075I Missense 20/29 - 1
2-29446344-T-C c.3223A>G p.S1075G Missense 20/29 - 1
2-29446349-A-C c.3218T>G p.L1073R Missense 20/29 - 1
2-29446350-G-A c.3217C>T p.L1073= Synonymous 20/29 - 1
2-29446353-C-A c.3214G>T p.E1072* Nonsense 20/29 - 1
2-29446353-C-G c.3214G>C p.E1072Q Missense 20/29 - 1
2-29446353-C-T c.3214G>A p.E1072K Missense 20/29 - 2
2-29446354-C-T c.3213G>A p.M1071I Missense 20/29 - 1
2-29446356-T-A c.3211A>T p.M1071L Missense 20/29 - 2
2-29446356-T-G c.3211A>C p.M1071L Missense 20/29 - 2
2-29446357-C-G c.3210G>C p.Q1070H Missense 20/29 - 2
2-29446357-C-T c.3210G>A p.Q1070= Synonymous 20/29 - 2
2-29446358-T-C c.3209A>G p.Q1070R Missense 20/29 - 1
2-29446361-A-G c.3206T>C p.M1069T Missense 20/29 - 1
2-29446362-T-A c.3205A>T p.M1069L Missense 20/29 - 1
2-29446362-T-C c.3205A>G p.M1069V Missense 20/29 - 1
2-29446362-T-G c.3205A>C p.M1069L Missense 20/29 - 1
2-29446364-G-A c.3203C>T p.A1068V Missense 20/29 - 2
2-29446365-C-T c.3202G>A p.A1068T Missense 20/29 - 1
2-29446370-A-G c.3197T>C p.L1066P Missense 20/29 - 1
2-29446374-C-G c.3193G>C p.E1065Q Missense 20/29 - 1
2-29446374-C-T c.3193G>A p.E1065K Missense 20/29 - 1
2-29446376-T-C c.3191A>G p.Q1064R Missense 20/29 - 2
2-29446377-G-A c.3190C>T p.Q1064* Nonsense 20/29 - 1
2-29446378-G-C c.3189C>G p.H1063Q Missense 20/29 - 1
2-29446378-G-T c.3189C>A p.H1063Q Missense 20/29 - 1
2-29446381-C-G c.3186G>C p.K1062N Missense 20/29 - 1
2-29446382-T-A c.3185A>T p.K1062M Missense 20/29 - 18
2-29446383-T-A c.3184A>T p.K1062* Nonsense 20/29 - 1
2-29446383-T-C c.3184A>G p.K1062E Missense 20/29 - 2
2-29446385-C-A c.3182G>T p.R1061L Missense 20/29 - 1
2-29446385-C-T c.3182G>A p.R1061Q Missense 20/29 - 11
2-29446386-G-A c.3181C>T p.R1061W Missense 20/29 - 7
2-29446386-G-T c.3181C>A p.R1061= Synonymous 20/29 - 1
2-29446388-C-G c.3179G>C p.R1060P Missense 20/29 - 1
2-29446388-C-T c.3179G>A p.R1060H Missense 20/29 - 5
2-29446389-G-A c.3178C>T p.R1060C Missense 20/29 - 8
2-29446390-G-C c.3177C>G p.Y1059* Nonsense 20/29 - 1
2-29446391-T-C c.3176A>G p.Y1059C Missense 20/29 - 1
2-29446394-A-G c.3173T>C p.V1058A Missense 20/29 - 1
2-29446541-A-T c.3173-147T>A - IntronicSNV - 19/28 2
2-29446701-T-C c.3173-307A>G - IntronicSNV - 19/28 4
2-29446721-A-G c.3173-327T>C - IntronicSNV - 19/28 4
2-29446880-C-A c.3173-486G>T - IntronicSNV - 19/28 2
2-29446880-C-G c.3173-486G>C - IntronicSNV - 19/28 2
2-29447108-G-A c.3173-714C>T - IntronicSNV - 19/28 4
2-29447185-G-T c.3173-791C>A - IntronicSNV - 19/28 1
2-29447253-A-C c.3173-859T>G - IntronicSNV - 19/28 3
2-29447253-A-G c.3173-859T>C - IntronicSNV - 19/28 3
2-29447407-C-T c.3172+920G>A - IntronicSNV - 19/28 1
2-29447605-T-C c.3172+722A>G - IntronicSNV - 19/28 1
2-29447615-T-C c.3172+712A>G - IntronicSNV - 19/28 1
2-29448111-G-T c.3172+216C>A - IntronicSNV - 19/28 1
2-29448126-C-T c.3172+201G>A - IntronicSNV - 19/28 1
2-29448320-C-T c.3172+7G>A - IntronicSNV - 19/28 1
2-29448329-A-G c.3170T>C p.I1057T Missense 19/29 - 2
2-29448332-A-G c.3167T>C p.M1056T Missense 19/29 - 1
2-29448333-ATG-A c.3165_3166del p.M1056Dfs*21 Frameshift 19/29 - 1
2-29448334-G-A c.3165C>T p.I1055= Synonymous 19/29 - 1
2-29448334-G-T c.3165C>A p.I1055= Synonymous 19/29 - 2
2-29448339-C-T c.3160G>A p.G1054S Missense 19/29 - 6
2-29448340-G-T c.3159C>A p.S1053= Synonymous 19/29 - 1
2-29448341-GA-AG c.3157_3158delinsCT p.S1053L Missense 19/29 - 1
2-29448341-G-T c.3158C>A p.S1053Y Missense 19/29 - 2
2-29448343-G-T c.3156C>A p.F1052L Missense 19/29 - 2
2-29448344-A-G c.3155T>C p.F1052S Missense 19/29 - 1
2-29448345-A-T c.3154T>A p.F1052I Missense 19/29 - 1
2-29448348-C-T c.3151G>A p.A1051T Missense 19/29 - 1
2-29448351-G-T c.3148C>A p.L1050M Missense 19/29 - 1
2-29448352-G-A c.3147C>T p.V1049= Synonymous 19/29 - 1
2-29448352-G-C c.3147C>G p.V1049= Synonymous 19/29 - 1
2-29448352-G-T c.3147C>A p.V1049= Synonymous 19/29 - 1
2-29448354-C-G c.3145G>C p.V1049L Missense 19/29 - 1
2-29448354-C-T c.3145G>A p.V1049I Missense 19/29 - 1
2-29448355-C-A c.3144G>T p.L1048= Synonymous 19/29 - 5
2-29448355-C-G c.3144G>C p.L1048= Synonymous 19/29 - 4
2-29448355-C-T c.3144G>A p.L1048= Synonymous 19/29 - 6
2-29448357-G-A c.3142C>T p.L1048= Synonymous 19/29 - 4
2-29448356-CA-C c.3143del p.L1048Rfs*9 Frameshift 19/29 - 1
2-29448358-G-A c.3141C>T p.A1047= Synonymous 19/29 - 1
2-29448358-G-C c.3141C>G p.A1047= Synonymous 19/29 - 1
2-29448358-GGC-TTA c.3139_3141delinsTAA p.A1047* Nonsense 19/29 - 1
2-29448358-G-T c.3141C>A p.A1047= Synonymous 19/29 - 1
2-29448359-G-A c.3140C>T p.A1047V Missense 19/29 - 1
2-29448359-G-C c.3140C>G p.A1047G Missense 19/29 - 1
2-29448359-GC-CG c.3139_3140delinsCG p.A1047R Missense 19/29 - 2
2-29448360-C-T c.3139G>A p.A1047T Missense 19/29 - 5
2-29448362-G-A c.3137C>T p.A1046V Missense 19/29 - 2
2-29448363-C-T c.3136G>A p.A1046T Missense 19/29 - 2
2-29448365-A-C c.3134T>G p.V1045G Missense 19/29 - 1
2-29448366-C-A c.3133G>T p.V1045L Missense 19/29 - 1
2-29448366-C-G c.3133G>C p.V1045L Missense 19/29 - 2
2-29448366-C-T c.3133G>A p.V1045M Missense 19/29 - 5
2-29448367-G-A c.3132C>T p.L1044= Synonymous 19/29 - 2
2-29448368-A-T c.3131T>A p.L1044H Missense 19/29 - 1
2-29448369-G-T c.3130C>A p.L1044I Missense 19/29 - 1
2-29448371-G-A c.3128C>T p.A1043V Missense 19/29 - 2
2-29448371-GC-TT c.3127_3128delinsAA p.A1043N Missense 19/29 - 1
2-29448372-C-A c.3127G>T p.A1043S Missense 19/29 - 1
2-29448372-C-T c.3127G>A p.A1043T Missense 19/29 - 1
2-29448374-GA-TC c.3124_3125inv p.S1042D Missense 19/29 - 1
2-29448375-A-C c.3124T>G p.S1042A Missense 19/29 - 1
2-29448377-G-A c.3122C>T p.T1041I Missense 19/29 - 3
2-29448377-G-C c.3122C>G p.T1041S Missense 19/29 - 2
2-29448377-G-T c.3122C>A p.T1041N Missense 19/29 - 2
2-29448378-T-A c.3121A>T p.T1041S Missense 19/29 - 1
2-29448380-AC-TA c.3118_3119delinsTA p.V1040* Nonsense 19/29 - 1
2-29448381-C-T c.3118G>A p.V1040M Missense 19/29 - 1
2-29448380-AC-A c.3118del p.V1040* Frameshift 19/29 - 1
2-29448382-C-A c.3117G>T p.V1039= Synonymous 19/29 - 1
2-29448382-C-G c.3117G>C p.V1039= Synonymous 19/29 - 1
2-29448382-C-T c.3117G>A p.V1039= Synonymous 19/29 - 1
2-29448382-CACAG-C c.3113_3116del p.S1038Wfs*2 Frameshift 19/29 - 1
2-29448384-C-A c.3115G>T p.V1039L Missense 19/29 - 1
2-29448384-C-G c.3115G>C p.V1039L Missense 19/29 - 1
2-29448384-C-T c.3115G>A p.V1039M Missense 19/29 - 6
2-29448386-G-A c.3113C>T p.S1038F Missense 19/29 - 1
2-29448386-GA-TT c.3112_3113delinsAA p.S1038N Missense 19/29 - 1
2-29448387-A-T c.3112T>A p.S1038T Missense 19/29 - 1
2-29448389-A-T c.3110T>A p.L1037H Missense 19/29 - 1
2-29448394-C-T c.3105G>A p.L1035= Synonymous 19/29 - 1
2-29448397-C-A c.3102G>T p.S1034= Synonymous 19/29 - 3
2-29448397-C-G c.3102G>C p.S1034= Synonymous 19/29 - 3
2-29448397-C-T c.3102G>A p.S1034= Synonymous 19/29 - 3
2-29448398-G-A c.3101C>T p.S1034L Missense 19/29 - 1
2-29448398-G-C c.3101C>G p.S1034W Missense 19/29 - 1
2-29448399-A-C c.3100T>G p.S1034A Missense 19/29 - 1
2-29448401-A-G c.3098T>C p.L1033P Missense 19/29 - 1
2-29448401-A-T c.3098T>A p.L1033H Missense 19/29 - 1
2-29448402-G-A c.3097C>T p.L1033F Missense 19/29 - 1
2-29448405-G-A c.3094C>T p.P1032S Missense 19/29 - 1
2-29448407-AGGT-A c.3089_3091del p.H1030del InFrameDeletion 19/29 - 1
2-29448410-T-G c.3089A>C p.H1030P Missense 19/29 - 13
2-29448411-G-A c.3088C>T p.H1030Y Missense 19/29 - 1
2-29448412-T-A c.3087A>T p.P1029= Synonymous 19/29 - 4
2-29448412-T-C c.3087A>G p.P1029= Synonymous 19/29 - 1
2-29448412-T-G c.3087A>C p.P1029= Synonymous 19/29 - 3
2-29448413-G-C c.3086C>G p.P1029R Missense 19/29 - 1
2-29448413-G-T c.3086C>A p.P1029Q Missense 19/29 - 1
2-29448414-G-C c.3085C>G p.P1029A Missense 19/29 - 1
2-29448415-C-A c.3084G>T p.E1028D Missense 19/29 - 2
2-29448415-C-G c.3084G>C p.E1028D Missense 19/29 - 2
2-29448415-GCTCC-G c.3081_3084del p.E1028Hfs*7 Frameshift 19/29 - 1
2-29448416-T-C c.3083A>G p.E1028G Missense 19/29 - 1
2-29448416-T-G c.3083A>C p.E1028A Missense 19/29 - 1
2-29448417-C-G c.3082G>C p.E1028Q Missense 19/29 - 1
2-29448417-C-T c.3082G>A p.E1028K Missense 19/29 - 3
2-29448418-C-G c.3081G>C p.P1027= Synonymous 19/29 - 1
2-29448418-C-T c.3081G>A p.P1027= Synonymous 19/29 - 1
2-29448419-G-A c.3080C>T p.P1027L Missense 19/29 - 10
2-29448420-G-A c.3079C>T p.P1027S Missense 19/29 - 3
2-29448421-GG-CT c.3077_3078delinsAG p.T1026K Missense 19/29 - 2
2-29448423-T-C c.3076A>G p.T1026A Missense 19/29 - 1
2-29448423-T-G c.3076A>C p.T1026P Missense 19/29 - 7
2-29448425-G-T c.3074C>A p.P1025H Missense 19/29 - 1
2-29448426-G-A c.3073C>T p.P1025S Missense 19/29 - 2
2-29448427-T-A c.3072A>T p.S1024= Synonymous 19/29 - 1
2-29448427-T-C c.3072A>G p.S1024= Synonymous 19/29 - 1
2-29448427-T-G c.3072A>C p.S1024= Synonymous 19/29 - 1
2-29448431-A-C c.3068T>G p.V1023G Missense 19/29 - 1
2-29448443-G-A c.3068-12C>T - IntronicSNV - 18/28 1
2-29448443-G-T c.3068-12C>A - IntronicSNV - 18/28 1
2-29448672-C-A c.3068-241G>T - IntronicSNV - 18/28 2
2-29448672-C-T c.3068-241G>A - IntronicSNV - 18/28 2
2-29448760-C-T c.3068-329G>A - IntronicSNV - 18/28 3
2-29448846-C-G c.3068-415G>C - IntronicSNV - 18/28 3
2-29448888-G-A c.3068-457C>T - IntronicSNV - 18/28 1
2-29449005-G-T c.3068-574C>A - IntronicSNV - 18/28 2
2-29449344-CAAAA-C c.3067+440_3067+443del - IntronicDeletion - 18/28 1
2-29449423-G-A c.3067+365C>T - IntronicSNV - 18/28 2
2-29449526-C-T c.3067+262G>A - IntronicSNV - 18/28 1
2-29449672-G-T c.3067+116C>A - IntronicSNV - 18/28 1
2-29449754-G-T c.3067+34C>A - IntronicSNV - 18/28 1
2-29449762-T-C c.3067+26A>G - IntronicSNV - 18/28 3
2-29449775-C-A c.3067+13G>T - IntronicSNV - 18/28 1
2-29449783-C-A c.3067+5G>T - IntronicSNV - 18/28 1
2-29449793-C-T c.3062G>A p.C1021Y Missense 18/29 - 1
2-29449793-C-G c.3062G>C p.C1021S Missense 18/29 - 1
2-29449796-G-A c.3059C>T p.S1020F Missense 18/29 - 1
2-29449796-GA-AG c.3058_3059delinsCT p.S1020L Missense 18/29 - 1
2-29449796-G-C c.3059C>G p.S1020C Missense 18/29 - 1
2-29449797-A-T c.3058T>A p.S1020T Missense 18/29 - 1
2-29449798-G-C c.3057C>G p.V1019= Synonymous 18/29 - 1
2-29449798-G-T c.3057C>A p.V1019= Synonymous 18/29 - 2
2-29449799-A-G c.3056T>C p.V1019A Missense 18/29 - 1
2-29449800-C-T c.3055G>A p.V1019I Missense 18/29 - 3
2-29449801-G-A c.3054C>T p.G1018= Synonymous 18/29 - 1
2-29449801-G-C c.3054C>G p.G1018= Synonymous 18/29 - 1
2-29449801-G-T c.3054C>A p.G1018= Synonymous 18/29 - 1
2-29449802-C-G c.3053G>C p.G1018A Missense 18/29 - 1
2-29449802-C-T c.3053G>A p.G1018D Missense 18/29 - 1
2-29449803-C-T c.3052G>A p.G1018S Missense 18/29 - 1
2-29449804-ATCC-A c.3048_3050del p.E1016del InFrameDeletion 18/29 - 1
2-29449807-C-A c.3048G>T p.E1016D Missense 18/29 - 4
2-29449807-C-G c.3048G>C p.E1016D Missense 18/29 - 1
2-29449808-T-A c.3047A>T p.E1016V Missense 18/29 - 1
2-29449811-AGC-A c.3043_3044del p.A1015* Frameshift 18/29 - 1
2-29449811-G-A c.3044C>T p.A1015V Missense 18/29 - 1
2-29449812-C-A c.3043G>T p.A1015S Missense 18/29 - 1
2-29449812-C-T c.3043G>A p.A1015T Missense 18/29 - 1
2-29449815-G-A c.3040C>T p.L1014= Synonymous 18/29 - 1
2-29449816-C-G c.3039G>C p.V1013= Synonymous 18/29 - 1
2-29449818-C-A c.3037G>T p.V1013L Missense 18/29 - 2
2-29449818-C-G c.3037G>C p.V1013L Missense 18/29 - 1
2-29449819-C-A c.3036G>T p.T1012= Synonymous 18/29 - 4
2-29449819-C-G c.3036G>C p.T1012= Synonymous 18/29 - 4
2-29449819-C-T c.3036G>A p.T1012= Synonymous 18/29 - 26
2-29449820-G-A c.3035C>T p.T1012M Missense 18/29 - 25
2-29449822-C-A c.3033G>T p.G1011= Synonymous 18/29 - 1
2-29449822-C-G c.3033G>C p.G1011= Synonymous 18/29 - 1
2-29449822-C-T c.3033G>A p.G1011= Synonymous 18/29 - 1
2-29449823-C-A c.3032G>T p.G1011V Missense 18/29 - 1
2-29449823-C-T c.3032G>A p.G1011E Missense 18/29 - 1
2-29449824-C-G c.3031G>C p.G1011R Missense 18/29 - 1
2-29449824-C-T c.3031G>A p.G1011R Missense 18/29 - 1
2-29449825-G-A c.3030C>T p.H1010= Synonymous 18/29 - 2
2-29449826-T-C c.3029A>G p.H1010R Missense 18/29 - 2
2-29449827-G-A c.3028C>T p.H1010Y Missense 18/29 - 1
2-29449829-T-G c.3026A>C p.D1009A Missense 18/29 - 2
2-29449830-C-G c.3025G>C p.D1009H Missense 18/29 - 2
2-29449830-C-T c.3025G>A p.D1009N Missense 18/29 - 1
2-29449834-G-A c.3021C>T p.F1007= Synonymous 18/29 - 1
2-29449834-G-C c.3021C>G p.F1007L Missense 18/29 - 1
2-29449834-G-T c.3021C>A p.F1007L Missense 18/29 - 1
2-29449836-A-G c.3019T>C p.F1007L Missense 18/29 - 1
2-29449838-CA-GT c.3016_3017delinsAC p.C1006T Missense 18/29 - 1
2-29449842-T-C c.3013A>G p.I1005V Missense 18/29 - 2
2-29449844-A-G c.3011T>C p.V1004A Missense 18/29 - 1
2-29449847-T-C c.3008A>G p.K1003R Missense 18/29 - 1
2-29449847-TT-GC c.3007_3008delinsGC p.K1003A Missense 18/29 - 1
2-29449848-T-C c.3007A>G p.K1003E Missense 18/29 - 2
2-29449850-T-C c.3005A>G p.H1002R Missense 18/29 - 1
2-29449851-G-A c.3004C>T p.H1002Y Missense 18/29 - 1
2-29449853-CT-AA c.3001_3002delinsTT p.S1001F Missense 18/29 - 1
2-29449855-TTC-CAT c.2998_3000delinsATG p.E1000M Missense 18/29 - 2
2-29449856-T-C c.2999A>G p.E1000G Missense 18/29 - 2
2-29449857-C-T c.2998G>A p.E1000K Missense 18/29 - 1
2-29449858-A-C c.2997T>G p.P999= Synonymous 18/29 - 3
2-29449858-A-G c.2997T>C p.P999= Synonymous 18/29 - 2
2-29449858-A-T c.2997T>A p.P999= Synonymous 18/29 - 2
2-29449859-GG-AT c.2995_2996delinsAT p.P999I Missense 18/29 - 1
2-29449859-G-T c.2996C>A p.P999H Missense 18/29 - 1
2-29449860-G-A c.2995C>T p.P999S Missense 18/29 - 1
2-29449860-G-T c.2995C>A p.P999T Missense 18/29 - 4
2-29449864-C-T c.2991G>A p.M997I Missense 18/29 - 2
2-29449865-A-C c.2990T>G p.M997R Missense 18/29 - 1
2-29449865-A-G c.2990T>C p.M997T Missense 18/29 - 1
2-29449866-T-C c.2989A>G p.M997V Missense 18/29 - 1
2-29449867-G-T c.2988C>A p.H996Q Missense 18/29 - 4
2-29449875-C-A c.2980G>T p.E994* Nonsense 18/29 - 2
2-29449875-C-T c.2980G>A p.E994K Missense 18/29 - 3
2-29449876-G-T c.2979C>A p.D993E Missense 18/29 - 1
2-29449878-C-T c.2977G>A p.D993N Missense 18/29 - 1
2-29449880-A-C c.2975T>G p.V992G Missense 18/29 - 1
2-29449883-T-C c.2972A>G p.E991G Missense 18/29 - 2
2-29449884-C-G c.2971G>C p.E991Q Missense 18/29 - 1
2-29449884-C-T c.2971G>A p.E991K Missense 18/29 - 1
2-29449885-A-C c.2970T>G p.C990W Missense 18/29 - 3
2-29449887-A-G c.2968T>C p.C990R Missense 18/29 - 2
2-29449888-G-A c.2967C>T p.H989= Synonymous 18/29 - 1
2-29449888-G-T c.2967C>A p.H989Q Missense 18/29 - 1
2-29449889-T-C c.2966A>G p.H989R Missense 18/29 - 1
2-29449890-G-A c.2965C>T p.H989Y Missense 18/29 - 2
2-29449890-G-T c.2965C>A p.H989N Missense 18/29 - 1
2-29449891-ACT-TCA c.2962_2964delinsTGA p.S988* Nonsense 18/29 - 1
2-29449892-C-T c.2963G>A p.S988N Missense 18/29 - 1
2-29449893-T-G c.2962A>C p.S988R Missense 18/29 - 1
2-29449894-G-A c.2961C>T p.C987= Synonymous 18/29 - 2
2-29449895-C-G c.2960G>C p.C987S Missense 18/29 - 1
2-29449896-A-G c.2959T>C p.C987R Missense 18/29 - 1
2-29449900-T-A c.2955A>T p.L985= Synonymous 18/29 - 1
2-29449900-TAG-AAA c.2953_2955delinsTTT p.L985F Missense 18/29 - 1
2-29449900-T-C c.2955A>G p.L985= Synonymous 18/29 - 1
2-29449900-T-G c.2955A>C p.L985= Synonymous 18/29 - 1
2-29449902-G-A c.2953C>T p.L985= Synonymous 18/29 - 1
2-29449904-TA-GC c.2950_2951delinsGC p.Y984A Missense 18/29 - 1
2-29449904-T-C c.2951A>G p.Y984C Missense 18/29 - 4
2-29449904-T-G c.2951A>C p.Y984S Missense 18/29 - 1
2-29449908-G-T c.2947C>A p.H983N Missense 18/29 - 1
2-29449909-C-A c.2946G>T p.K982N Missense 18/29 - 1
2-29449909-C-G c.2946G>C p.K982N Missense 18/29 - 1
2-29449909-C-T c.2946G>A p.K982= Synonymous 18/29 - 1
2-29449910-T-A c.2945A>T p.K982M Missense 18/29 - 1
2-29449912-A-C c.2943T>G p.I981M Missense 18/29 - 1
2-29449914-T-C c.2941A>G p.I981V Missense 18/29 - 3
2-29449914-T-G c.2941A>C p.I981L Missense 18/29 - 1
2-29449916-T-A c.2939A>T p.N980I Missense 18/29 - 1
2-29449918-C-A c.2937G>T p.V979= Synonymous 18/29 - 1
2-29449919-A-G c.2936T>C p.V979A Missense 18/29 - 1
2-29449919-A-T c.2936T>A p.V979E Missense 18/29 - 1
2-29449921-T-G c.2934A>C p.E978D Missense 18/29 - 1
2-29449923-C-T c.2932G>A p.E978K Missense 18/29 - 1
2-29449924-C-A c.2931G>T p.G977= Synonymous 18/29 - 1
2-29449924-C-G c.2931G>C p.G977= Synonymous 18/29 - 1
2-29449924-C-T c.2931G>A p.G977= Synonymous 18/29 - 2
2-29449922-TC-T c.2932del p.E978Kfs*2 Frameshift 18/29 - 1
2-29449926-C-A c.2929G>T p.G977W Missense 18/29 - 2
2-29449926-C-G c.2929G>C p.G977R Missense 18/29 - 2
2-29449926-C-T c.2929G>A p.G977R Missense 18/29 - 4
2-29449927-G-A c.2928C>T p.H976= Synonymous 18/29 - 3
2-29449929-G-A c.2926C>T p.H976Y Missense 18/29 - 3
2-29449929-G-T c.2926C>A p.H976N Missense 18/29 - 1
2-29449932-C-T c.2923G>A p.G975S Missense 18/29 - 1
2-29449934-T-A c.2921A>T p.E974V Missense 18/29 - 1
2-29449935-C-G c.2920G>C p.E974Q Missense 18/29 - 1
2-29449935-C-T c.2920G>A p.E974K Missense 18/29 - 2
2-29449937-A-G c.2918T>C p.M973T Missense 18/29 - 1
2-29449959-G-A c.2915-19C>T - IntronicSNV - 17/28 1
2-29450290-ATGTGGTGACC-A c.2914+140_2914+149del - IntronicDeletion - 17/28 1
2-29450373-T-A c.2914+67A>T - IntronicSNV - 17/28 1
2-29450373-T-C c.2914+67A>G - IntronicSNV - 17/28 1
2-29450383-G-A c.2914+57C>T - IntronicSNV - 17/28 3
2-29450383-G-T c.2914+57C>A - IntronicSNV - 17/28 1
2-29450393-A-G c.2914+47T>C - IntronicSNV - 17/28 1
2-29450440-C-T c.2914G>A p.V972M Missense 17/29 - 2
2-29450449-C-T c.2905G>A p.A969T Missense 17/29 - 1
2-29450451-G-A c.2903C>T p.P968L Missense 17/29 - 5
2-29450451-G-T c.2903C>A p.P968Q Missense 17/29 - 1
2-29450452-G-C c.2902C>G p.P968A Missense 17/29 - 1
2-29450453-G-T c.2901C>A p.T967= Synonymous 17/29 - 1
2-29450454-G-T c.2900C>A p.T967N Missense 17/29 - 1
2-29450456-G-A c.2898C>T p.Y966= Synonymous 17/29 - 1
2-29450459-C-A c.2895G>T p.L965= Synonymous 17/29 - 2
2-29450459-C-G c.2895G>C p.L965= Synonymous 17/29 - 1
2-29450459-C-T c.2895G>A p.L965= Synonymous 17/29 - 1
2-29450461-G-A c.2893C>T p.L965= Synonymous 17/29 - 2
2-29450461-G-T c.2893C>A p.L965M Missense 17/29 - 1
2-29450463-A-T c.2891T>A p.I964N Missense 17/29 - 1
2-29450464-T-C c.2890A>G p.I964V Missense 17/29 - 1
2-29450469-A-G c.2885T>C p.L962P Missense 17/29 - 1
2-29450472-G-A c.2882C>T p.P961L Missense 17/29 - 1
2-29450473-G-A c.2881C>T p.P961S Missense 17/29 - 1
2-29450475-C-G c.2879G>C p.S960T Missense 17/29 - 1
2-29450477-G-A c.2877C>T p.I959= Synonymous 17/29 - 1
2-29450477-G-C c.2877C>G p.I959M Missense 17/29 - 1
2-29450482-A-G c.2872T>C p.F958L Missense 17/29 - 1
2-29450482-AG-A c.2871del p.F958Sfs*13 Frameshift 17/29 - 1
2-29450484-G-T c.2870C>A p.S957Y Missense 17/29 - 1
2-29450486-A-C c.2868T>G p.V956= Synonymous 17/29 - 1
2-29450487-A-C c.2867T>G p.V956G Missense 17/29 - 2
2-29450487-A-G c.2867T>C p.V956A Missense 17/29 - 1
2-29450488-C-A c.2866G>T p.V956F Missense 17/29 - 1
2-29450488-C-T c.2866G>A p.V956I Missense 17/29 - 3
2-29450489-C-A c.2865G>T p.G955= Synonymous 17/29 - 1
2-29450489-CC-GT c.2864_2865delinsAC p.G955D Missense 17/29 - 1
2-29450489-C-G c.2865G>C p.G955= Synonymous 17/29 - 1
2-29450489-C-T c.2865G>A p.G955= Synonymous 17/29 - 1
2-29450490-C-A c.2864G>T p.G955V Missense 17/29 - 1
2-29450490-C-T c.2864G>A p.G955E Missense 17/29 - 1
2-29450491-C-T c.2863G>A p.G955R Missense 17/29 - 1
2-29450493-T-G c.2861A>C p.D954A Missense 17/29 - 1
2-29450494-C-G c.2860G>C p.D954H Missense 17/29 - 2
2-29450494-C-T c.2860G>A p.D954N Missense 17/29 - 3
2-29450497-C-T c.2857G>A p.E953K Missense 17/29 - 3
2-29450498-C-T c.2856G>A p.G952= Synonymous 17/29 - 1
2-29450499-C-G c.2855G>C p.G952A Missense 17/29 - 1
2-29450499-C-T c.2855G>A p.G952E Missense 17/29 - 5
2-29450500-C-T c.2854G>A p.G952R Missense 17/29 - 1
2-29450501-A-T c.2853T>A p.D951E Missense 17/29 - 1
2-29450502-T-G c.2852A>C p.D951A Missense 17/29 - 1
2-29450503-C-A c.2851G>T p.D951Y Missense 17/29 - 1
2-29450503-C-T c.2851G>A p.D951N Missense 17/29 - 5
2-29450502-TC-T c.2851del p.D951Mfs*20 Frameshift 17/29 - 1
2-29450504-C-A c.2850G>T p.M950I Missense 17/29 - 2
2-29450504-C-G c.2850G>C p.M950I Missense 17/29 - 2
2-29450504-C-T c.2850G>A p.M950I Missense 17/29 - 2
2-29450505-CA-C c.2849del p.M950Rfs*21 Frameshift 17/29 - 1
2-29450507-T-A c.2847A>T p.E949D Missense 17/29 - 1
2-29450507-T-G c.2847A>C p.E949D Missense 17/29 - 1
2-29450508-T-C c.2846A>G p.E949G Missense 17/29 - 1
2-29450509-C-T c.2845G>A p.E949K Missense 17/29 - 16
2-29450510-G-A c.2844C>T p.P948= Synonymous 17/29 - 2
2-29450510-G-C c.2844C>G p.P948= Synonymous 17/29 - 1
2-29450510-G-T c.2844C>A p.P948= Synonymous 17/29 - 2
2-29450511-G-A c.2843C>T p.P948L Missense 17/29 - 1
2-29450511-G-T c.2843C>A p.P948H Missense 17/29 - 1
2-29450512-G-A c.2842C>T p.P948S Missense 17/29 - 1
2-29450512-G-C c.2842C>G p.P948A Missense 17/29 - 1
2-29450515-C-A c.2839G>T p.D947Y Missense 17/29 - 2
2-29450522-T-A c.2832A>T p.S944= Synonymous 17/29 - 2
2-29450522-T-C c.2832A>G p.S944= Synonymous 17/29 - 2
2-29450522-T-G c.2832A>C p.S944= Synonymous 17/29 - 2
2-29450523-G-C c.2831C>G p.S944* Nonsense 17/29 - 1
2-29450521-TTGAGGC-T c.2827_2832del p.A943_S944del InFrameDeletion 17/29 - 3
2-29450526-G-A c.2828C>T p.A943V Missense 17/29 - 1
2-29450526-G-T c.2828C>A p.A943D Missense 17/29 - 2
2-29450527-C-T c.2827G>A p.A943T Missense 17/29 - 5
2-29450529-G-A c.2825C>T p.A942V Missense 17/29 - 1
2-29450532-T-C c.2822A>G p.N941S Missense 17/29 - 3
2-29450535-C-T c.2819G>A p.G940D Missense 17/29 - 3
2-29450536-C-A c.2818G>T p.G940C Missense 17/29 - 5
2-29450536-C-G c.2818G>C p.G940R Missense 17/29 - 1
2-29450536-C-T c.2818G>A p.G940S Missense 17/29 - 1
2-29450537-G-A c.2817C>T p.G939= Synonymous 17/29 - 4
2-29450537-G-C c.2817C>G p.G939= Synonymous 17/29 - 2
2-29450537-G-T c.2817C>A p.G939= Synonymous 17/29 - 3
2-29450538-C-A c.2816G>T p.G939V Missense 17/29 - 1
2-29450538-C-T c.2816G>A p.G939D Missense 17/29 - 1
2-29450605-G-A c.2816-67C>T - IntronicSNV - 16/28 1
2-29450684-G-A c.2816-146C>T - IntronicSNV - 16/28 2
2-29451354-A-G c.2815+396T>C - IntronicSNV - 16/28 1
2-29451354-A-T c.2815+396T>A - IntronicSNV - 16/28 1
2-29451511-C-G c.2815+239G>C - IntronicSNV - 16/28 1
2-29451566-T-G c.2815+184A>C - IntronicSNV - 16/28 1
2-29451675-A-AGGGCG c.2815+74_2815+75insCGCCC - IntronicInsertion - 16/28 2
2-29451718-G-T c.2815+32C>A - IntronicSNV - 16/28 1
2-29451727-C-T c.2815+23G>A - IntronicSNV - 16/28 1
2-29451750-C-A c.2815G>T p.G939C Missense 16/29 - 1
2-29451750-C-T c.2815G>A p.G939S Missense 16/29 - 2
2-29451752-A-G c.2813T>C p.I938T Missense 16/29 - 1
2-29451755-T-C c.2810A>G p.Y937C Missense 16/29 - 1
2-29451757-TCC-GCT c.2806_2808delinsAGC p.G936S Missense 16/29 - 1
2-29451758-C-G c.2807G>C p.G936A Missense 16/29 - 1
2-29451758-C-T c.2807G>A p.G936E Missense 16/29 - 7
2-29451759-C-G c.2806G>C p.G936R Missense 16/29 - 1
2-29451759-C-T c.2806G>A p.G936R Missense 16/29 - 1
2-29451760-T-G c.2805A>C p.G935= Synonymous 16/29 - 1
2-29451761-C-A c.2804G>T p.G935V Missense 16/29 - 7
2-29451761-C-T c.2804G>A p.G935E Missense 16/29 - 1
2-29451762-C-A c.2803G>T p.G935* Nonsense 16/29 - 2
2-29451762-C-G c.2803G>C p.G935R Missense 16/29 - 2
2-29451762-C-T c.2803G>A p.G935R Missense 16/29 - 7
2-29451763-G-A c.2802C>T p.G934= Synonymous 16/29 - 1
2-29451763-G-C c.2802C>G p.G934= Synonymous 16/29 - 1
2-29451763-G-T c.2802C>A p.G934= Synonymous 16/29 - 1
2-29451764-C-G c.2801G>C p.G934A Missense 16/29 - 2
2-29451764-C-T c.2801G>A p.G934D Missense 16/29 - 1
2-29451765-C-T c.2800G>A p.G934S Missense 16/29 - 1
2-29451768-C-G c.2797G>C p.G933R Missense 16/29 - 1
2-29451768-C-T c.2797G>A p.G933R Missense 16/29 - 1
2-29451769-T-A c.2796A>T p.G932= Synonymous 16/29 - 1
2-29451770-C-G c.2795G>C p.G932A Missense 16/29 - 2
2-29451770-C-T c.2795G>A p.G932E Missense 16/29 - 1
2-29451770-CCA-C c.2793_2794del p.G932Rfs*15 Frameshift 16/29 - 1
2-29451772-A-C c.2793T>G p.G931= Synonymous 16/29 - 1
2-29451772-ACC-T c.2791_2793delinsA p.G931Rfs*16 Frameshift 16/29 - 1
2-29451772-A-T c.2793T>A p.G931= Synonymous 16/29 - 1
2-29451773-C-A c.2792G>T p.G931V Missense 16/29 - 2
2-29451773-C-G c.2792G>C p.G931A Missense 16/29 - 1
2-29451776-G-A c.2789C>T p.S930L Missense 16/29 - 2
2-29451779-G-A c.2786C>T p.S929F Missense 16/29 - 1
2-29451779-GA-TT c.2785_2786delinsAA p.S929N Missense 16/29 - 1
2-29451779-G-C c.2786C>G p.S929C Missense 16/29 - 1
2-29451780-A-G c.2785T>C p.S929P Missense 16/29 - 1
2-29451782-C-A c.2783G>T p.C928F Missense 16/29 - 1
2-29451782-C-T c.2783G>A p.C928Y Missense 16/29 - 2
2-29451782-C-CA c.2782dup p.C928Lfs*20 Frameshift 16/29 - 2
2-29451783-A-C c.2782T>G p.C928G Missense 16/29 - 1
2-29451783-CA-C c.2782del p.C928Afs*11 Frameshift 16/29 - 1
2-29451784-C-A c.2781G>T p.G927= Synonymous 16/29 - 1
2-29451785-C-A c.2780G>T p.G927V Missense 16/29 - 1
2-29451785-C-T c.2780G>A p.G927E Missense 16/29 - 1
2-29451786-C-A c.2779G>T p.G927W Missense 16/29 - 1
2-29451786-C-T c.2779G>A p.G927R Missense 16/29 - 1
2-29451787-C-A c.2778G>T p.G926= Synonymous 16/29 - 1
2-29451787-CCC-ACA c.2776_2778delinsTGT p.G926C Missense 16/29 - 1
2-29451787-C-G c.2778G>C p.G926= Synonymous 16/29 - 1
2-29451787-C-T c.2778G>A p.G926= Synonymous 16/29 - 2
2-29451788-C-A c.2777G>T p.G926V Missense 16/29 - 2
2-29451788-C-G c.2777G>C p.G926A Missense 16/29 - 1
2-29451788-C-T c.2777G>A p.G926E Missense 16/29 - 6
2-29451783-A-AC c.2781dup p.C928Vfs*20 Frameshift 16/29 - 5
2-29451783-AC-A c.2781del p.C928Afs*11 Frameshift 16/29 - 4
2-29451789-C-G c.2776G>C p.G926R Missense 16/29 - 1
2-29451789-C-T c.2776G>A p.G926R Missense 16/29 - 1
2-29451790-T-A c.2775A>T p.G925= Synonymous 16/29 - 2
2-29451790-T-C c.2775A>G p.G925= Synonymous 16/29 - 4
2-29451790-T-G c.2775A>C p.G925= Synonymous 16/29 - 2
2-29451791-C-G c.2774G>C p.G925A Missense 16/29 - 1
2-29451792-C-A c.2773G>T p.G925* Nonsense 16/29 - 1
2-29451792-C-G c.2773G>C p.G925R Missense 16/29 - 1
2-29451792-C-T c.2773G>A p.G925R Missense 16/29 - 5
2-29451793-A-C c.2772T>G p.G924= Synonymous 16/29 - 6
2-29451793-A-G c.2772T>C p.G924= Synonymous 16/29 - 2
2-29451793-A-T c.2772T>A p.G924= Synonymous 16/29 - 2
2-29451794-C-A c.2771G>T p.G924V Missense 16/29 - 1
2-29451794-C-G c.2771G>C p.G924A Missense 16/29 - 1
2-29451794-C-T c.2771G>A p.G924D Missense 16/29 - 3
2-29451795-C-G c.2770G>C p.G924R Missense 16/29 - 2
2-29451795-C-T c.2770G>A p.G924S Missense 16/29 - 5
2-29451796-C-A c.2769G>T p.G923= Synonymous 16/29 - 1
2-29451796-CCC-ACA c.2767_2769delinsTGT p.G923C Missense 16/29 - 1
2-29451796-CCCCTCCG-C c.2763_2769del p.F921Lfs*16 Frameshift 16/29 - 1
2-29451796-C-T c.2769G>A p.G923= Synonymous 16/29 - 3
2-29451797-C-T c.2768G>A p.G923E Missense 16/29 - 4
2-29451798-CCTCCGAA-C c.2761_2767del p.F921Gfs*16 Frameshift 16/29 - 2
2-29451799-CTCCGAAA-C c.2760_2766del p.F921Gfs*16 Frameshift 16/29 - 1
2-29451799-T-A c.2766A>T p.G922= Synonymous 16/29 - 5
2-29451799-T-C c.2766A>G p.G922= Synonymous 16/29 - 11
2-29451799-T-G c.2766A>C p.G922= Synonymous 16/29 - 5
2-29451800-C-G c.2765G>C p.G922A Missense 16/29 - 1
2-29451800-C-T c.2765G>A p.G922E Missense 16/29 - 2
2-29451801-C-G c.2764G>C p.G922R Missense 16/29 - 3
2-29451801-C-T c.2764G>A p.G922R Missense 16/29 - 8
2-29451802-CGAAA-C c.2760_2763del p.F921Efs*17 Frameshift 16/29 - 1
2-29451802-G-A c.2763C>T p.F921= Synonymous 16/29 - 2
2-29451803-A-C c.2762T>G p.F921C Missense 16/29 - 7
2-29451803-A-G c.2762T>C p.F921S Missense 16/29 - 1
2-29451802-G-C c.2763C>G p.F921L Missense 16/29 - 16
2-29451802-G-T c.2763C>A p.F921L Missense 16/29 - 7
2-29451804-A-G c.2761T>C p.F921L Missense 16/29 - 7
2-29451804-A-T c.2761T>A p.F921I Missense 16/29 - 1
2-29451806-C-A c.2759G>T p.G920V Missense 16/29 - 1
2-29451806-C-T c.2759G>A p.G920D Missense 16/29 - 2
2-29451807-C-A c.2758G>T p.G920C Missense 16/29 - 3
2-29451808-C-T c.2757G>A p.G919= Synonymous 16/29 - 6
2-29451810-C-A c.2755G>T p.G919W Missense 16/29 - 1
2-29451811-T-A c.2754A>T p.R918S Missense 16/29 - 1
2-29451811-T-C c.2754A>G p.R918= Synonymous 16/29 - 4
2-29451811-T-G c.2754A>C p.R918S Missense 16/29 - 1
2-29451813-T-G c.2752A>C p.R918= Synonymous 16/29 - 1
2-29451812-C-A c.2753G>T p.R918I Missense 16/29 - 1
2-29451812-C-T c.2753G>A p.R918K Missense 16/29 - 1
2-29451813-CTT-C c.2751_2752del p.G920Ffs*27 Frameshift 16/29 - 2
2-29451815-G-A c.2750C>T p.T917I Missense 16/29 - 3
2-29451815-G-C c.2750C>G p.T917R Missense 16/29 - 1
2-29451815-G-T c.2750C>A p.T917K Missense 16/29 - 1
2-29451816-T-C c.2749A>G p.T917A Missense 16/29 - 2
2-29451818-T-A c.2747A>T p.E916V Missense 16/29 - 1
2-29451818-T-C c.2747A>G p.E916G Missense 16/29 - 3
2-29451819-C-T c.2746G>A p.E916K Missense 16/29 - 2
2-29451820-C-T c.2745G>A p.W915* Nonsense 16/29 - 1
2-29451821-C-A c.2744G>T p.W915L Missense 16/29 - 1
2-29451821-C-T c.2744G>A p.W915* Nonsense 16/29 - 2
2-29451822-A-C c.2743T>G p.W915G Missense 16/29 - 4
2-29451822-CA-C c.2743del p.W915Gfs*24 Frameshift 16/29 - 3
2-29451823-CCC-GCT c.2740_2742delinsAGC p.G914S Missense 16/29 - 1
2-29451823-C-T c.2742G>A p.G914= Synonymous 16/29 - 1
2-29451824-CC-TA c.2740_2741delinsTA p.G914* Nonsense 16/29 - 1
2-29451825-C-A c.2740G>T p.G914W Missense 16/29 - 2
2-29451825-C-G c.2740G>C p.G914R Missense 16/29 - 1
2-29451825-C-T c.2740G>A p.G914R Missense 16/29 - 5
2-29451826-C-A c.2739G>T p.W913C Missense 16/29 - 1
2-29451826-C-G c.2739G>C p.W913C Missense 16/29 - 1
2-29451826-C-T c.2739G>A p.W913* Nonsense 16/29 - 1
2-29451822-AC-A c.2742del p.W915Gfs*24 Frameshift 16/29 - 1
2-29451828-A-C c.2737T>G p.W913G Missense 16/29 - 1
2-29451830-T-C c.2735A>G p.K912R Missense 16/29 - 1
2-29451832-C-A c.2733G>T p.K911N Missense 16/29 - 1
2-29451832-C-G c.2733G>C p.K911N Missense 16/29 - 1
2-29451833-T-C c.2732A>G p.K911R Missense 16/29 - 3
2-29451833-T-G c.2732A>C p.K911T Missense 16/29 - 4
2-29451835-C-A c.2730G>T p.M910I Missense 16/29 - 4
2-29451835-C-G c.2730G>C p.M910I Missense 16/29 - 2
2-29451835-C-T c.2730G>A p.M910I Missense 16/29 - 11
2-29451838-G-A c.2727C>T p.A909= Synonymous 16/29 - 2
2-29451838-G-C c.2727C>G p.A909= Synonymous 16/29 - 2
2-29451838-G-T c.2727C>A p.A909= Synonymous 16/29 - 2
2-29451839-G-A c.2726C>T p.A909V Missense 16/29 - 1
2-29451840-C-T c.2725G>A p.A909T Missense 16/29 - 1
2-29451842-CT-C c.2723del p.Q908Rfs*3 Frameshift 16/29 - 2
2-29451842-T-C c.2723A>G p.Q908R Missense 16/29 - 1
2-29451843-G-A c.2722C>T p.Q908* Nonsense 16/29 - 3
2-29451843-G-T c.2722C>A p.Q908K Missense 16/29 - 2
2-29451844-G-A c.2721C>T p.P907= Synonymous 16/29 - 1
2-29451845-G-A c.2720C>T p.P907L Missense 16/29 - 1
2-29451846-G-A c.2719C>T p.P907S Missense 16/29 - 1
2-29451842-TG-T c.2722del p.Q908Rfs*3 Frameshift 16/29 - 2
2-29451848-C-A c.2717G>T p.C906F Missense 16/29 - 1
2-29451849-A-C c.2716T>G p.C906G Missense 16/29 - 2
2-29451851-G-A c.2714C>T p.S905F Missense 16/29 - 1
2-29451852-A-G c.2713T>C p.S905P Missense 16/29 - 1
2-29451853-A-C c.2712T>G p.H904Q Missense 16/29 - 2
2-29451853-A-G c.2712T>C p.H904= Synonymous 16/29 - 2
2-29451853-A-T c.2712T>A p.H904Q Missense 16/29 - 3
2-29451857-C-G c.2708G>C p.G903A Missense 16/29 - 1
2-29451857-C-T c.2708G>A p.G903E Missense 16/29 - 3
2-29451860-CC-TT c.2704_2705delinsAA p.G902K Missense 16/29 - 2
2-29451860-C-G c.2705G>C p.G902A Missense 16/29 - 3
2-29451860-C-T c.2705G>A p.G902E Missense 16/29 - 3
2-29451861-C-G c.2704G>C p.G902R Missense 16/29 - 2
2-29451861-C-T c.2704G>A p.G902R Missense 16/29 - 5
2-29451862-G-A c.2703C>T p.T901= Synonymous 16/29 - 1
2-29451862-G-C c.2703C>G p.T901= Synonymous 16/29 - 1
2-29451862-G-T c.2703C>A p.T901= Synonymous 16/29 - 1
2-29451864-T-A c.2701A>T p.T901S Missense 16/29 - 1
2-29451864-T-C c.2701A>G p.T901A Missense 16/29 - 6
2-29451865-G-A c.2700C>T p.A900= Synonymous 16/29 - 1
2-29451866-G-C c.2699C>G p.A900G Missense 16/29 - 1
2-29451867-C-T c.2698G>A p.A900T Missense 16/29 - 1
2-29451870-C-T c.2695G>A p.G899S Missense 16/29 - 1
2-29451871-C-A c.2694G>T p.E898D Missense 16/29 - 3
2-29451871-C-G c.2694G>C p.E898D Missense 16/29 - 1
2-29451871-C-T c.2694G>A p.E898= Synonymous 16/29 - 1
2-29451872-T-C c.2693A>G p.E898G Missense 16/29 - 1
2-29451873-C-T c.2692G>A p.E898K Missense 16/29 - 1
2-29451875-T-A c.2690A>T p.Q897L Missense 16/29 - 5
2-29451875-T-C c.2690A>G p.Q897R Missense 16/29 - 1
2-29451883-T-C c.2682A>G p.K894= Synonymous 16/29 - 1
2-29451884-T-C c.2681A>G p.K894R Missense 16/29 - 1
2-29451885-T-G c.2680A>C p.K894Q Missense 16/29 - 2
2-29451887-C-A c.2678G>T p.G893V Missense 16/29 - 2
2-29451887-C-T c.2678G>A p.G893E Missense 16/29 - 2
2-29451888-C-G c.2677G>C p.G893R Missense 16/29 - 2
2-29451888-C-T c.2677G>A p.G893R Missense 16/29 - 8
2-29451889-G-A c.2676C>T p.A892= Synonymous 16/29 - 2
2-29451891-C-T c.2674G>A p.A892T Missense 16/29 - 1
2-29451893-C-A c.2672G>T p.W891L Missense 16/29 - 2
2-29451894-A-G c.2671T>C p.W891R Missense 16/29 - 1
2-29451894-A-T c.2671T>A p.W891R Missense 16/29 - 1
2-29451895-G-A c.2670C>T p.L890= Synonymous 16/29 - 1
2-29451895-G-C c.2670C>G p.L890= Synonymous 16/29 - 2
2-29451895-G-T c.2670C>A p.L890= Synonymous 16/29 - 1
2-29451898-C-A c.2667G>T p.L889F Missense 16/29 - 1
2-29451898-C-G c.2667G>C p.L889F Missense 16/29 - 1
2-29451901-G-A c.2664C>T p.S888= Synonymous 16/29 - 2
2-29451908-T-G c.2657A>C p.N886T Missense 16/29 - 1
2-29451909-T-G c.2656A>C p.N886H Missense 16/29 - 1
2-29451910-A-G c.2655T>C p.D885= Synonymous 16/29 - 1
2-29451911-T-C c.2654A>G p.D885G Missense 16/29 - 2
2-29451911-T-G c.2654A>C p.D885A Missense 16/29 - 1
2-29451912-C-A c.2653G>T p.D885Y Missense 16/29 - 2
2-29451912-C-G c.2653G>C p.D885H Missense 16/29 - 1
2-29451912-C-T c.2653G>A p.D885N Missense 16/29 - 3
2-29451913-A-G c.2652T>C p.N884= Synonymous 16/29 - 1
2-29451914-T-A c.2651A>T p.N884I Missense 16/29 - 1
2-29451917-C-T c.2648G>A p.W883* Nonsense 16/29 - 1
2-29451918-A-G c.2647T>C p.W883R Missense 16/29 - 1
2-29451918-A-T c.2647T>A p.W883R Missense 16/29 - 1
2-29451920-C-G c.2645G>C p.G882A Missense 16/29 - 2
2-29451919-GC-G c.2645del p.G882Afs*29 Frameshift 16/29 - 1
2-29451921-C-A c.2644G>T p.G882C Missense 16/29 - 3
2-29451921-C-T c.2644G>A p.G882S Missense 16/29 - 1
2-29451922-A-G c.2643T>C p.G881= Synonymous 16/29 - 1
2-29451923-C-T c.2642G>A p.G881D Missense 16/29 - 4
2-29451924-C-G c.2641G>C p.G881R Missense 16/29 - 1
2-29451926-C-G c.2639G>C p.G880A Missense 16/29 - 1
2-29451926-C-T c.2639G>A p.G880E Missense 16/29 - 2
2-29451929-C-A c.2636G>T p.G879V Missense 16/29 - 1
2-29451930-C-A c.2635G>T p.G879C Missense 16/29 - 1
2-29451930-C-G c.2635G>C p.G879R Missense 16/29 - 1
2-29451930-C-T c.2635G>A p.G879S Missense 16/29 - 1
2-29451932-C-G c.2633G>C p.G878A Missense 16/29 - 2
2-29451938-G-A c.2633-6C>T - IntronicSNV - 15/28 1
2-29451957-C-A c.2633-25G>T - IntronicSNV - 15/28 2
2-29451957-C-T c.2633-25G>A - IntronicSNV - 15/28 2
2-29451986-C-T c.2633-54G>A - IntronicSNV - 15/28 2
2-29452238-C-G c.2633-306G>C - IntronicSNV - 15/28 1
2-29452238-C-T c.2633-306G>A - IntronicSNV - 15/28 1
2-29452251-G-C c.2633-319C>G - IntronicSNV - 15/28 1
2-29452260-C-T c.2633-328G>A - IntronicSNV - 15/28 1
2-29452616-C-T c.2633-684G>A - IntronicSNV - 15/28 1
2-29453050-C-A c.2633-1118G>T - IntronicSNV - 15/28 1
2-29453250-C-T c.2633-1318G>A - IntronicSNV - 15/28 1
2-29453252-C-G c.2633-1320G>C - IntronicSNV - 15/28 1
2-29453252-C-T c.2633-1320G>A - IntronicSNV - 15/28 1
2-29453721-C-T c.2632+1449G>A - IntronicSNV - 15/28 1
2-29453764-A-G c.2632+1406T>C - IntronicSNV - 15/28 1
2-29453835-T-C c.2632+1335A>G - IntronicSNV - 15/28 1
2-29453911-G-A c.2632+1259C>T - IntronicSNV - 15/28 1
2-29453930-G-A c.2632+1240C>T - IntronicSNV - 15/28 1
2-29453930-G-T c.2632+1240C>A - IntronicSNV - 15/28 1
2-29453969-C-T c.2632+1201G>A - IntronicSNV - 15/28 1
2-29453970-G-A c.2632+1200C>T - IntronicSNV - 15/28 1
2-29454090-G-A c.2632+1080C>T - IntronicSNV - 15/28 1
2-29454131-A-G c.2632+1039T>C - IntronicSNV - 15/28 1
2-29454152-G-A c.2632+1018C>T - IntronicSNV - 15/28 1
2-29454372-A-G c.2632+798T>C - IntronicSNV - 15/28 1
2-29454418-C-T c.2632+752G>A - IntronicSNV - 15/28 1
2-29454633-G-C c.2632+537C>G - IntronicSNV - 15/28 1
2-29454633-G-T c.2632+537C>A - IntronicSNV - 15/28 1
2-29454644-C-G c.2632+526G>C - IntronicSNV - 15/28 1
2-29454644-C-T c.2632+526G>A - IntronicSNV - 15/28 1
2-29454701-A-G c.2632+469T>C - IntronicSNV - 15/28 2
2-29454702-G-A c.2632+468C>T - IntronicSNV - 15/28 1
2-29454725-A-G c.2632+445T>C - IntronicSNV - 15/28 1
2-29454807-A-G c.2632+363T>C - IntronicSNV - 15/28 1
2-29454991-G-A c.2632+179C>T - IntronicSNV - 15/28 1
2-29455016-C-T c.2632+154G>A - IntronicSNV - 15/28 2
2-29455040-G-A c.2632+130C>T - IntronicSNV - 15/28 2
2-29455051-C-T c.2632+119G>A - IntronicSNV - 15/28 1
2-29455170-C-T c.2632G>A p.G878S Missense 15/29 - 3
2-29455173-C-A c.2629G>T p.A877S Missense 15/29 - 6
2-29455173-C-T c.2629G>A p.A877T Missense 15/29 - 5
2-29455174-GG-CT c.2627_2628delinsAG p.A876E Missense 15/29 - 1
2-29455174-G-T c.2628C>A p.A876= Synonymous 15/29 - 2
2-29455175-G-A c.2627C>T p.A876V Missense 15/29 - 1
2-29455175-G-T c.2627C>A p.A876D Missense 15/29 - 1
2-29455176-C-T c.2626G>A p.A876T Missense 15/29 - 2
2-29455177-T-C c.2625A>G p.G875= Synonymous 15/29 - 1
2-29455178-C-T c.2624G>A p.G875E Missense 15/29 - 4
2-29455179-C-A c.2623G>T p.G875* Nonsense 15/29 - 1
2-29455179-C-G c.2623G>C p.G875R Missense 15/29 - 6
2-29455179-C-T c.2623G>A p.G875R Missense 15/29 - 16
2-29455180-G-A c.2622C>T p.S874= Synonymous 15/29 - 1
2-29455181-G-A c.2621C>T p.S874F Missense 15/29 - 1
2-29455182-A-C c.2620T>G p.S874A Missense 15/29 - 1
2-29455184-TT-CC c.2617_2618delinsGG p.N873G Missense 15/29 - 1
2-29455185-T-C c.2617A>G p.N873D Missense 15/29 - 3
2-29455187-C-A c.2615G>T p.G872V Missense 15/29 - 1
2-29455187-C-T c.2615G>A p.G872D Missense 15/29 - 1
2-29455188-C-T c.2614G>A p.G872S Missense 15/29 - 5
2-29455189-G-A c.2613C>T p.N871= Synonymous 15/29 - 5
2-29455189-G-C c.2613C>G p.N871K Missense 15/29 - 2
2-29455189-G-T c.2613C>A p.N871K Missense 15/29 - 7
2-29455191-T-G c.2611A>C p.N871H Missense 15/29 - 1
2-29455194-G-A c.2608C>T p.L870= Synonymous 15/29 - 1
2-29455195-CCC-GCT c.2605_2607delinsAGC p.G869S Missense 15/29 - 1
2-29455195-CC-GT c.2606_2607delinsAC p.G869D Missense 15/29 - 2
2-29455195-C-T c.2607G>A p.G869= Synonymous 15/29 - 1
2-29455196-C-T c.2606G>A p.G869E Missense 15/29 - 1
2-29455194-GC-G c.2607del p.L870* Frameshift 15/29 - 1
2-29455197-C-T c.2605G>A p.G869R Missense 15/29 - 1
2-29455198-TAG-CAT c.2602_2604delinsATG p.L868M Missense 15/29 - 1
2-29455199-A-C c.2603T>G p.L868R Missense 15/29 - 4
2-29455199-A-T c.2603T>A p.L868Q Missense 15/29 - 5
2-29455200-G-GAC c.2601_2602insGT p.L868Vfs*2 Frameshift 15/29 - 1
2-29455201-AAC-CAT c.2599_2601delinsATG p.V867M Missense 15/29 - 1
2-29455202-A-T c.2600T>A p.V867D Missense 15/29 - 1
2-29455203-C-T c.2599G>A p.V867I Missense 15/29 - 1
2-29455204-C-G c.2598G>C p.S866= Synonymous 15/29 - 1
2-29455204-C-T c.2598G>A p.S866= Synonymous 15/29 - 1
2-29455205-G-A c.2597C>T p.S866L Missense 15/29 - 3
2-29455205-G-T c.2597C>A p.S866* Nonsense 15/29 - 1
2-29455206-A-G c.2596T>C p.S866P Missense 15/29 - 1
2-29455204-CGAG-C c.2595_2597del p.S866del InFrameDeletion 15/29 - 1
2-29455208-G-C c.2594C>G p.S865C Missense 15/29 - 1
2-29455209-A-G c.2593T>C p.S865P Missense 15/29 - 6
2-29455211-T-G c.2591A>C p.N864T Missense 15/29 - 1
2-29455213-TA-T c.2589del p.N863Kfs*6 Frameshift 15/29 - 1
2-29455214-T-A c.2588A>T p.N863I Missense 15/29 - 1
2-29455214-T-C c.2588A>G p.N863S Missense 15/29 - 1
2-29455216-C-A c.2586G>T p.E862D Missense 15/29 - 4
2-29455216-C-G c.2586G>C p.E862D Missense 15/29 - 3
2-29455219-C-T c.2583G>A p.L861= Synonymous 15/29 - 1
2-29455220-A-C c.2582T>G p.L861R Missense 15/29 - 2
2-29455220-A-G c.2582T>C p.L861P Missense 15/29 - 2
2-29455220-AG-TA c.2581_2582delinsTA p.L861* Nonsense 15/29 - 1
2-29455220-A-T c.2582T>A p.L861Q Missense 15/29 - 40
2-29455221-G-C c.2581C>G p.L861V Missense 15/29 - 1
2-29455223-C-A c.2579G>T p.R860I Missense 15/29 - 4
2-29455223-C-G c.2579G>C p.R860T Missense