SIPA1L2

SIPA1L2 signal induced proliferation associated 1 like 2

Annotation transcript: NM_020808.5

2148 unique variant annotations were identified in 638 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
1-232533832-T-C c.*1041A>G - 3-UTRSNV 23/23 - 1
1-232534776-C-T c.*97G>A - 3-UTRSNV 23/23 - 3
1-232534836-G-A c.*37C>T - 3-UTRSNV 23/23 - 1
1-232534836-G-T c.*37C>A - 3-UTRSNV 23/23 - 1
1-232534876-A-G c.5166T>C p.S1722= Synonymous 23/23 - 1
1-232534882-T-G c.5160A>C p.K1720N Missense 23/23 - 1
1-232534885-G-T c.5157C>A p.D1719E Missense 23/23 - 1
1-232534886-T-C c.5156A>G p.D1719G Missense 23/23 - 3
1-232534887-C-T c.5155G>A p.D1719N Missense 23/23 - 2
1-232534888-G-A c.5154C>T p.I1718= Synonymous 23/23 - 6
1-232534888-G-T c.5154C>A p.I1718= Synonymous 23/23 - 2
1-232534890-T-C c.5152A>G p.I1718V Missense 23/23 - 1
1-232534891-G-A c.5151C>T p.T1717= Synonymous 23/23 - 1
1-232534891-G-C c.5151C>G p.T1717= Synonymous 23/23 - 1
1-232534891-G-T c.5151C>A p.T1717= Synonymous 23/23 - 1
1-232534894-G-C c.5148C>G p.T1716= Synonymous 23/23 - 1
1-232534895-G-A c.5147C>T p.T1716I Missense 23/23 - 1
1-232534902-A-C c.5140T>G p.F1714V Missense 23/23 - 1
1-232534906-T-C c.5136A>G p.E1712= Synonymous 23/23 - 1
1-232534910-G-A c.5132C>T p.T1711I Missense 23/23 - 1
1-232534915-T-C c.5127A>G p.K1709= Synonymous 23/23 - 2
1-232534918-C-T c.5124G>A p.R1708= Synonymous 23/23 - 3
1-232534919-C-T c.5123G>A p.R1708Q Missense 23/23 - 10
1-232534930-T-A c.5112A>T p.T1704= Synonymous 23/23 - 1
1-232534931-G-T c.5111C>A p.T1704K Missense 23/23 - 4
1-232534933-C-T c.5109G>A p.A1703= Synonymous 23/23 - 2
1-232534935-C-T c.5107G>A p.A1703T Missense 23/23 - 1
1-232534936-G-A c.5106C>T p.T1702= Synonymous 23/23 - 1
1-232534936-G-C c.5106C>G p.T1702= Synonymous 23/23 - 1
1-232534936-G-T c.5106C>A p.T1702= Synonymous 23/23 - 2
1-232534942-G-T c.5100C>A p.S1700= Synonymous 23/23 - 2
1-232534943-G-T c.5099C>A p.S1700Y Missense 23/23 - 2
1-232534947-C-T c.5095G>A p.E1699K Missense 23/23 - 1
1-232534950-C-T c.5092G>A p.E1698K Missense 23/23 - 2
1-232534957-T-C c.5085A>G p.R1695= Synonymous 23/23 - 15
1-232534959-T-G c.5083A>C p.R1695= Synonymous 23/23 - 1
1-232534960-C-T c.5082G>A p.M1694I Missense 23/23 - 1
1-232534969-C-G c.5073G>C p.Q1691H Missense 23/23 - 1
1-232534975-C-T c.5067G>A p.L1689= Synonymous 23/23 - 1
1-232534982-T-A c.5060A>T p.Q1687L Missense 23/23 - 1
1-232534982-T-G c.5060A>C p.Q1687P Missense 23/23 - 2
1-232534986-C-T c.5056G>A p.V1686M Missense 23/23 - 1
1-232534989-C-T c.5053G>A p.E1685K Missense 23/23 - 2
1-232534998-G-A c.5044C>T p.L1682F Missense 23/23 - 2
1-232534998-G-T c.5044C>A p.L1682I Missense 23/23 - 5
1-232535030-C-A c.5023-11G>T - IntronicSNV - 22/22 10
1-232535030-C-G c.5023-11G>C - IntronicSNV - 22/22 10
1-232535030-C-T c.5023-11G>A - IntronicSNV - 22/22 10
1-232535037-A-G c.5023-18T>C - IntronicSNV - 22/22 1
1-232535253-G-A c.5023-234C>T - IntronicSNV - 22/22 1
1-232535253-G-T c.5023-234C>A - IntronicSNV - 22/22 1
1-232538141-C-T c.5019G>A p.R1673= Synonymous 22/23 - 3
1-232538142-C-T c.5018G>A p.R1673Q Missense 22/23 - 2
1-232538141-C-A c.5019G>T p.R1673= Synonymous 22/23 - 1
1-232538141-C-G c.5019G>C p.R1673= Synonymous 22/23 - 1
1-232538143-G-A c.5017C>T p.R1673W Missense 22/23 - 10
1-232538143-G-T c.5017C>A p.R1673= Synonymous 22/23 - 1
1-232538146-G-A c.5014C>T p.L1672F Missense 22/23 - 4
1-232538148-T-C c.5012A>G p.D1671G Missense 22/23 - 1
1-232538149-C-A c.5011G>T p.D1671Y Missense 22/23 - 2
1-232538155-G-T c.5005C>A p.Q1669K Missense 22/23 - 1
1-232538157-A-G c.5003T>C p.L1668P Missense 22/23 - 1
1-232538163-C-T c.4997G>A p.R1666Q Missense 22/23 - 6
1-232538164-G-A c.4996C>T p.R1666* Nonsense 22/23 - 9
1-232538167-G-T c.4993C>A p.L1665I Missense 22/23 - 5
1-232538176-C-G c.4984G>C p.E1662Q Missense 22/23 - 2
1-232538176-C-T c.4984G>A p.E1662K Missense 22/23 - 3
1-232538182-G-A c.4978C>T p.Q1660* Nonsense 22/23 - 1
1-232538182-G-C c.4978C>G p.Q1660E Missense 22/23 - 2
1-232538187-A-T c.4973T>A p.V1658D Missense 22/23 - 2
1-232538194-C-A c.4966G>T p.G1656W Missense 22/23 - 1
1-232538194-C-G c.4966G>C p.G1656R Missense 22/23 - 1
1-232538194-C-T c.4966G>A p.G1656R Missense 22/23 - 1
1-232538195-G-A c.4965C>T p.T1655= Synonymous 22/23 - 1
1-232538195-G-T c.4965C>A p.T1655= Synonymous 22/23 - 3
1-232538200-G-T c.4960C>A p.L1654M Missense 22/23 - 1
1-232538202-G-A c.4958C>T p.P1653L Missense 22/23 - 1
1-232538202-G-T c.4958C>A p.P1653Q Missense 22/23 - 2
1-232538204-T-A c.4956A>T p.S1652= Synonymous 22/23 - 1
1-232538204-T-C c.4956A>G p.S1652= Synonymous 22/23 - 1
1-232538204-T-G c.4956A>C p.S1652= Synonymous 22/23 - 1
1-232538209-G-A c.4951C>T p.P1651S Missense 22/23 - 2
1-232538212-A-G c.4948T>C p.S1650P Missense 22/23 - 1
1-232538214-C-T c.4946G>A p.R1649H Missense 22/23 - 2
1-232538215-G-A c.4945C>T p.R1649C Missense 22/23 - 1
1-232538234-T-G c.4941-15A>C - IntronicSNV - 21/22 2
1-232538236-G-A c.4941-17C>T - IntronicSNV - 21/22 1
1-232539194-C-G c.4940G>C p.G1647A Missense 21/23 - 3
1-232539195-C-A c.4939G>T p.G1647W Missense 21/23 - 1
1-232539197-G-A c.4937C>T p.T1646I Missense 21/23 - 3
1-232539198-T-C c.4936A>G p.T1646A Missense 21/23 - 1
1-232539201-T-C c.4933A>G p.T1645A Missense 21/23 - 1
1-232539202-G-A c.4932C>T p.D1644= Synonymous 21/23 - 1
1-232539208-G-T c.4926C>A p.F1642L Missense 21/23 - 2
1-232539208-G-C c.4926C>G p.F1642L Missense 21/23 - 1
1-232539210-A-G c.4924T>C p.F1642L Missense 21/23 - 1
1-232539211-C-A c.4923G>T p.E1641D Missense 21/23 - 1
1-232539213-C-G c.4921G>C p.E1641Q Missense 21/23 - 3
1-232539215-T-C c.4919A>G p.K1640R Missense 21/23 - 1
1-232539217-G-A c.4917C>T p.G1639= Synonymous 21/23 - 1
1-232539217-G-C c.4917C>G p.G1639= Synonymous 21/23 - 1
1-232539217-G-T c.4917C>A p.G1639= Synonymous 21/23 - 1
1-232539219-C-G c.4915G>C p.G1639R Missense 21/23 - 3
1-232539219-C-T c.4915G>A p.G1639S Missense 21/23 - 20
1-232539223-G-A c.4911C>T p.G1637= Synonymous 21/23 - 3
1-232539224-C-T c.4910G>A p.G1637D Missense 21/23 - 1
1-232539227-G-T c.4907C>A p.P1636Q Missense 21/23 - 5
1-232539228-G-A c.4906C>T p.P1636S Missense 21/23 - 1
1-232539232-T-A c.4902A>T p.V1634= Synonymous 21/23 - 1
1-232539232-T-C c.4902A>G p.V1634= Synonymous 21/23 - 1
1-232539232-T-G c.4902A>C p.V1634= Synonymous 21/23 - 1
1-232539238-T-A c.4896A>T p.L1632F Missense 21/23 - 1
1-232539238-T-G c.4896A>C p.L1632F Missense 21/23 - 1
1-232539242-G-A c.4892C>T p.P1631L Missense 21/23 - 5
1-232539242-G-T c.4892C>A p.P1631H Missense 21/23 - 1
1-232539243-G-A c.4891C>T p.P1631S Missense 21/23 - 2
1-232539249-C-T c.4885G>A p.E1629K Missense 21/23 - 2
1-232539250-T-C c.4884A>G p.Q1628= Synonymous 21/23 - 1
1-232539255-C-T c.4879G>A p.A1627T Missense 21/23 - 2
1-232539257-C-T c.4877G>A p.G1626E Missense 21/23 - 2
1-232539258-C-T c.4876G>A p.G1626R Missense 21/23 - 1
1-232539261-C-T c.4873G>A p.E1625K Missense 21/23 - 2
1-232539265-G-C c.4869C>G p.D1623E Missense 21/23 - 1
1-232539265-G-T c.4869C>A p.D1623E Missense 21/23 - 1
1-232539268-C-A c.4866G>T p.Q1622H Missense 21/23 - 1
1-232539279-G-A c.4855C>T p.Q1619* Nonsense 21/23 - 1
1-232539288-T-C c.4846A>G p.T1616A Missense 21/23 - 1
1-232539292-G-A c.4842C>T p.T1614= Synonymous 21/23 - 1
1-232539296-C-A c.4838G>T p.C1613F Missense 21/23 - 1
1-232539299-A-G c.4835T>C p.F1612S Missense 21/23 - 1
1-232539301-G-C c.4833C>G p.S1611= Synonymous 21/23 - 1
1-232539302-G-A c.4832C>T p.S1611F Missense 21/23 - 1
1-232539305-G-A c.4829C>T p.A1610V Missense 21/23 - 1
1-232539306-C-A c.4828G>T p.A1610S Missense 21/23 - 1
1-232539310-CCT-ATG c.4822_4824delinsCAT p.R1608H Missense 21/23 - 1
1-232539311-C-T c.4823G>A p.R1608K Missense 21/23 - 2
1-232539412-T-C c.4817-95A>G - IntronicSNV - 20/22 5
1-232539629-C-T c.4816+242G>A - IntronicSNV - 20/22 1
1-232539811-T-A c.4816+60A>T - IntronicSNV - 20/22 5
1-232539811-T-C c.4816+60A>G - IntronicSNV - 20/22 4
1-232539871-C-T c.4816G>A p.D1606N Missense 20/23 - 1
1-232539872-T-A c.4815A>T p.L1605= Synonymous 20/23 - 1
1-232539873-A-G c.4814T>C p.L1605P Missense 20/23 - 1
1-232539881-C-A c.4806G>T p.T1602= Synonymous 20/23 - 1
1-232539881-C-G c.4806G>C p.T1602= Synonymous 20/23 - 1
1-232539881-C-T c.4806G>A p.T1602= Synonymous 20/23 - 1
1-232539882-G-A c.4805C>T p.T1602M Missense 20/23 - 1
1-232539895-G-A c.4792C>T p.L1598F Missense 20/23 - 1
1-232539897-A-G c.4790T>C p.L1597P Missense 20/23 - 3
1-232539901-C-G c.4786G>C p.G1596R Missense 20/23 - 1
1-232539901-C-T c.4786G>A p.G1596R Missense 20/23 - 1
1-232539917-G-C c.4770C>G p.D1590E Missense 20/23 - 2
1-232539917-G-T c.4770C>A p.D1590E Missense 20/23 - 3
1-232539919-C-T c.4768G>A p.D1590N Missense 20/23 - 2
1-232550109-C-T c.4762+1131G>A - IntronicSNV - 19/22 1
1-232550840-T-C c.4762+400A>G - IntronicSNV - 19/22 1
1-232551006-G-C c.4762+234C>G - IntronicSNV - 19/22 1
1-232551243-C-A c.4759G>T p.E1587* Nonsense 19/23 - 1
1-232551251-C-T c.4751G>A p.R1584Q Missense 19/23 - 1
1-232551252-G-C c.4750C>G p.R1584G Missense 19/23 - 1
1-232551255-C-G c.4747G>C p.A1583P Missense 19/23 - 1
1-232551265-G-A c.4737C>T p.L1579= Synonymous 19/23 - 4
1-232551265-G-C c.4737C>G p.L1579= Synonymous 19/23 - 4
1-232551265-G-T c.4737C>A p.L1579= Synonymous 19/23 - 3
1-232551268-G-T c.4734C>A p.H1578Q Missense 19/23 - 1
1-232551269-T-C c.4733A>G p.H1578R Missense 19/23 - 1
1-232551270-G-A c.4732C>T p.H1578Y Missense 19/23 - 1
1-232551271-G-A c.4731C>T p.T1577= Synonymous 19/23 - 1
1-232551271-G-C c.4731C>G p.T1577= Synonymous 19/23 - 1
1-232551271-G-T c.4731C>A p.T1577= Synonymous 19/23 - 1
1-232551274-C-A c.4728G>T p.W1576C Missense 19/23 - 1
1-232551274-C-G c.4728G>C p.W1576C Missense 19/23 - 1
1-232551274-C-T c.4728G>A p.W1576* Nonsense 19/23 - 1
1-232551278-T-A c.4724A>T p.D1575V Missense 19/23 - 1
1-232551279-C-G c.4723G>C p.D1575H Missense 19/23 - 2
1-232551284-C-A c.4718G>T p.G1573V Missense 19/23 - 1
1-232551291-C-T c.4711G>A p.A1571T Missense 19/23 - 2
1-232551297-C-G c.4705G>C p.D1569H Missense 19/23 - 1
1-232551299-G-A c.4703C>T p.P1568L Missense 19/23 - 1
1-232551299-G-T c.4703C>A p.P1568Q Missense 19/23 - 1
1-232551300-G-A c.4702C>T p.P1568S Missense 19/23 - 1
1-232551300-G-C c.4702C>G p.P1568A Missense 19/23 - 2
1-232551301-G-A c.4701C>T p.L1567= Synonymous 19/23 - 1
1-232551310-C-A c.4692G>T p.L1564= Synonymous 19/23 - 1
1-232551310-C-G c.4692G>C p.L1564= Synonymous 19/23 - 1
1-232551310-C-T c.4692G>A p.L1564= Synonymous 19/23 - 2
1-232551312-G-A c.4690C>T p.L1564= Synonymous 19/23 - 1
1-232551311-A-G c.4691T>C p.L1564P Missense 19/23 - 1
1-232551313-G-T c.4689C>A p.G1563= Synonymous 19/23 - 1
1-232551320-T-C c.4682A>G p.D1561G Missense 19/23 - 2
1-232551321-C-T c.4681G>A p.D1561N Missense 19/23 - 1
1-232551322-T-C c.4680A>G p.A1560= Synonymous 19/23 - 1
1-232551324-C-T c.4678G>A p.A1560T Missense 19/23 - 4
1-232551325-G-A c.4677C>T p.C1559= Synonymous 19/23 - 3
1-232551330-T-C c.4672A>G p.K1558E Missense 19/23 - 1
1-232551331-G-A c.4671C>T p.S1557= Synonymous 19/23 - 1
1-232551334-C-T c.4668G>A p.K1556= Synonymous 19/23 - 1
1-232551336-T-C c.4666A>G p.K1556E Missense 19/23 - 1
1-232551341-G-C c.4661C>G p.S1554* Nonsense 19/23 - 2
1-232551341-G-T c.4661C>A p.S1554* Nonsense 19/23 - 2
1-232551342-A-G c.4660T>C p.S1554P Missense 19/23 - 1
1-232551349-C-A c.4653G>T p.G1551= Synonymous 19/23 - 1
1-232551349-C-G c.4653G>C p.G1551= Synonymous 19/23 - 1
1-232551349-C-T c.4653G>A p.G1551= Synonymous 19/23 - 1
1-232551355-G-A c.4647C>T p.S1549= Synonymous 19/23 - 1
1-232551355-G-C c.4647C>G p.S1549= Synonymous 19/23 - 1
1-232551355-G-T c.4647C>A p.S1549= Synonymous 19/23 - 1
1-232551360-A-T c.4642T>A p.F1548I Missense 19/23 - 1
1-232551362-C-T c.4640G>A p.W1547* Nonsense 19/23 - 1
1-232551366-A-G c.4636T>C p.F1546L Missense 19/23 - 1
1-232551368-T-A c.4634A>T p.E1545V Missense 19/23 - 1
1-232551416-G-A c.4631-45C>T - IntronicSNV - 18/22 5
1-232551416-G-C c.4631-45C>G - IntronicSNV - 18/22 5
1-232551425-C-A c.4631-54G>T - IntronicSNV - 18/22 1
1-232551425-C-G c.4631-54G>C - IntronicSNV - 18/22 1
1-232551425-C-T c.4631-54G>A - IntronicSNV - 18/22 1
1-232551533-T-C c.4631-162A>G - IntronicSNV - 18/22 1
1-232551604-C-T c.4631-233G>A - IntronicSNV - 18/22 1
1-232551645-T-C c.4631-274A>G - IntronicSNV - 18/22 1
1-232551645-T-G c.4631-274A>C - IntronicSNV - 18/22 1
1-232551761-T-C c.4631-390A>G - IntronicSNV - 18/22 1
1-232551795-C-G c.4631-424G>C - IntronicSNV - 18/22 1
1-232551795-C-T c.4631-424G>A - IntronicSNV - 18/22 1
1-232558598-C-T c.4630+2737G>A - IntronicSNV - 18/22 1
1-232560611-A-T c.4630+724T>A - IntronicSNV - 18/22 1
1-232561340-AG-TA c.4624_4625delinsTA p.L1542* Nonsense 18/23 - 1
1-232561347-C-G c.4618G>C p.G1540R Missense 18/23 - 1
1-232561347-C-T c.4618G>A p.G1540R Missense 18/23 - 1
1-232561348-C-A c.4617G>T p.M1539I Missense 18/23 - 5
1-232561348-C-G c.4617G>C p.M1539I Missense 18/23 - 5
1-232561348-C-T c.4617G>A p.M1539I Missense 18/23 - 8
1-232561350-T-G c.4615A>C p.M1539L Missense 18/23 - 1
1-232561351-G-A c.4614C>T p.S1538= Synonymous 18/23 - 1
1-232561351-G-C c.4614C>G p.S1538R Missense 18/23 - 1
1-232561351-G-T c.4614C>A p.S1538R Missense 18/23 - 1
1-232561353-T-G c.4612A>C p.S1538R Missense 18/23 - 1
1-232561359-C-T c.4606G>A p.A1536T Missense 18/23 - 1
1-232561364-T-G c.4601A>C p.H1534P Missense 18/23 - 1
1-232561367-G-A c.4598C>T p.A1533V Missense 18/23 - 1
1-232561368-C-T c.4597G>A p.A1533T Missense 18/23 - 1
1-232561370-C-T c.4595G>A p.R1532Q Missense 18/23 - 1
1-232561371-G-A c.4594C>T p.R1532W Missense 18/23 - 1
1-232561372-C-A c.4593G>T p.P1531= Synonymous 18/23 - 1
1-232561372-C-T c.4593G>A p.P1531= Synonymous 18/23 - 4
1-232561373-G-A c.4592C>T p.P1531L Missense 18/23 - 2
1-232561377-G-A c.4588C>T p.P1530S Missense 18/23 - 1
1-232561382-G-A c.4583C>T p.T1528M Missense 18/23 - 3
1-232561382-G-T c.4583C>A p.T1528K Missense 18/23 - 1
1-232561395-G-A c.4570C>T p.P1524S Missense 18/23 - 2
1-232561396-T-A c.4569A>T p.P1523= Synonymous 18/23 - 1
1-232561396-T-C c.4569A>G p.P1523= Synonymous 18/23 - 4
1-232561396-T-G c.4569A>C p.P1523= Synonymous 18/23 - 4
1-232561398-G-A c.4567C>T p.P1523S Missense 18/23 - 1
1-232561399-G-A c.4566C>T p.T1522= Synonymous 18/23 - 4
1-232561399-G-C c.4566C>G p.T1522= Synonymous 18/23 - 3
1-232561399-G-T c.4566C>A p.T1522= Synonymous 18/23 - 3
1-232561403-G-C c.4562C>G p.T1521S Missense 18/23 - 1
1-232561412-A-G c.4553T>C p.L1518P Missense 18/23 - 1
1-232561415-A-G c.4550T>C p.I1517T Missense 18/23 - 1
1-232561420-G-A c.4545C>T p.N1515= Synonymous 18/23 - 5
1-232561420-G-T c.4545C>A p.N1515K Missense 18/23 - 1
1-232561430-G-T c.4535C>A p.A1512D Missense 18/23 - 1
1-232561431-C-T c.4534G>A p.A1512T Missense 18/23 - 4
1-232561435-G-A c.4530C>T p.D1510= Synonymous 18/23 - 3
1-232561437-C-G c.4528G>C p.D1510H Missense 18/23 - 1
1-232561442-A-G c.4523T>C p.V1508A Missense 18/23 - 1
1-232561443-C-T c.4522G>A p.V1508M Missense 18/23 - 2
1-232561444-CGG-C c.4520_4521del p.S1507Cfs*3 Frameshift 18/23 - 1
1-232561444-G-A c.4521C>T p.S1507= Synonymous 18/23 - 1
1-232561444-G-C c.4521C>G p.S1507= Synonymous 18/23 - 1
1-232561444-G-T c.4521C>A p.S1507= Synonymous 18/23 - 1
1-232561445-G-A c.4520C>T p.S1507F Missense 18/23 - 1
1-232561450-C-A c.4515G>T p.R1505= Synonymous 18/23 - 4
1-232561450-C-G c.4515G>C p.R1505= Synonymous 18/23 - 5
1-232561450-C-T c.4515G>A p.R1505= Synonymous 18/23 - 4
1-232561452-G-A c.4513C>T p.R1505W Missense 18/23 - 1
1-232561452-G-C c.4513C>G p.R1505G Missense 18/23 - 1
1-232561452-G-T c.4513C>A p.R1505= Synonymous 18/23 - 4
1-232561465-G-A c.4500C>T p.S1500= Synonymous 18/23 - 3
1-232561468-G-A c.4497C>T p.S1499= Synonymous 18/23 - 1
1-232561468-G-C c.4497C>G p.S1499= Synonymous 18/23 - 1
1-232561468-G-T c.4497C>A p.S1499= Synonymous 18/23 - 1
1-232561472-C-A c.4493G>T p.G1498V Missense 18/23 - 1
1-232561474-C-A c.4491G>T p.R1497S Missense 18/23 - 1
1-232561474-CCT-ATG c.4489_4491delinsCAT p.R1497H Missense 18/23 - 1
1-232561474-C-G c.4491G>C p.R1497S Missense 18/23 - 1
1-232561477-C-A c.4488G>T p.R1496S Missense 18/23 - 1
1-232561477-C-G c.4488G>C p.R1496S Missense 18/23 - 1
1-232561477-C-T c.4488G>A p.R1496= Synonymous 18/23 - 1
1-232561479-T-G c.4486A>C p.R1496= Synonymous 18/23 - 1
1-232561478-C-T c.4487G>A p.R1496K Missense 18/23 - 1
1-232561484-C-G c.4481G>C p.S1494T Missense 18/23 - 1
1-232561495-C-A c.4470G>T p.E1490D Missense 18/23 - 3
1-232561495-C-G c.4470G>C p.E1490D Missense 18/23 - 4
1-232561497-C-T c.4468G>A p.E1490K Missense 18/23 - 1
1-232561501-A-C c.4464T>G p.S1488= Synonymous 18/23 - 1
1-232561501-A-G c.4464T>C p.S1488= Synonymous 18/23 - 2
1-232561501-A-T c.4464T>A p.S1488= Synonymous 18/23 - 1
1-232561507-C-T c.4458G>A p.T1486= Synonymous 18/23 - 1
1-232561511-C-A c.4454G>T p.R1485L Missense 18/23 - 1
1-232561512-G-A c.4453C>T p.R1485C Missense 18/23 - 2
1-232561513-G-A c.4452C>T p.Y1484= Synonymous 18/23 - 1
1-232561518-G-A c.4447C>T p.L1483F Missense 18/23 - 1
1-232561520-G-A c.4445C>T p.S1482L Missense 18/23 - 14
1-232561520-G-C c.4445C>G p.S1482W Missense 18/23 - 1
1-232561526-C-A c.4439G>T p.R1480M Missense 18/23 - 2
1-232561528-T-A c.4437A>T p.P1479= Synonymous 18/23 - 1
1-232561528-T-C c.4437A>G p.P1479= Synonymous 18/23 - 1
1-232561528-T-G c.4437A>C p.P1479= Synonymous 18/23 - 1
1-232561530-G-A c.4435C>T p.P1479S Missense 18/23 - 2
1-232561531-A-C c.4434T>G p.S1478= Synonymous 18/23 - 1
1-232561531-A-G c.4434T>C p.S1478= Synonymous 18/23 - 1
1-232561531-A-T c.4434T>A p.S1478= Synonymous 18/23 - 1
1-232561532-GA-TT c.4432_4433delinsAA p.S1478N Missense 18/23 - 1
1-232561538-T-A c.4427A>T p.N1476I Missense 18/23 - 1
1-232561540-CCC-GAT c.4423_4425delinsATC p.G1475I Missense 18/23 - 1
1-232561541-C-T c.4424G>A p.G1475E Missense 18/23 - 1
1-232561544-T-C c.4421A>G p.Y1474C Missense 18/23 - 4
1-232561545-A-G c.4420T>C p.Y1474H Missense 18/23 - 2
1-232561550-G-A c.4415C>T p.S1472L Missense 18/23 - 18
1-232564013-C-T c.4410+144G>A - IntronicSNV - 17/22 1
1-232564097-T-G c.4410+60A>C - IntronicSNV - 17/22 1
1-232564096-CTTT-C c.4410+58_4410+60del - IntronicDeletion - 17/22 1
1-232564096-CTT-C c.4410+59_4410+60del - IntronicDeletion - 17/22 1
1-232564096-CT-C c.4410+60del - IntronicDeletion - 17/22 1
1-232564118-TA-T c.4410+39del - IntronicDeletion - 17/22 1
1-232564149-T-A c.4410+8A>T - IntronicSNV - 17/22 1
1-232564157-C-T c.4410G>A p.K1470= Synonymous 17/23 - 2
1-232564158-T-C c.4409A>G p.K1470R Missense 17/23 - 1
1-232564160-T-C c.4407A>G p.R1469= Synonymous 17/23 - 1
1-232564162-T-G c.4405A>C p.R1469= Synonymous 17/23 - 1
1-232564161-C-A c.4406G>T p.R1469I Missense 17/23 - 1
1-232564161-C-T c.4406G>A p.R1469K Missense 17/23 - 2
1-232564162-T-C c.4405A>G p.R1469G Missense 17/23 - 14
1-232564164-C-T c.4403G>A p.R1468Q Missense 17/23 - 1
1-232564165-G-A c.4402C>T p.R1468* Nonsense 17/23 - 1
1-232564167-C-T c.4400G>A p.G1467E Missense 17/23 - 4
1-232564168-C-G c.4399G>C p.G1467R Missense 17/23 - 1
1-232564168-C-T c.4399G>A p.G1467R Missense 17/23 - 1
1-232564181-G-A c.4386C>T p.P1462= Synonymous 17/23 - 1
1-232564182-G-A c.4385C>T p.P1462L Missense 17/23 - 2
1-232564184-G-A c.4383C>T p.S1461= Synonymous 17/23 - 2
1-232564188-GT-G c.4379del p.D1460Afs*4 Frameshift 17/23 - 1
1-232564191-G-A c.4376C>T p.P1459L Missense 17/23 - 4
1-232564199-C-T c.4368G>A p.L1456= Synonymous 17/23 - 1
1-232564201-A-G c.4366T>C p.L1456= Synonymous 17/23 - 1
1-232564210-A-C c.4357T>G p.F1453V Missense 17/23 - 1
1-232564212-T-C c.4355A>G p.D1452G Missense 17/23 - 1
1-232564213-C-G c.4354G>C p.D1452H Missense 17/23 - 4
1-232564213-C-T c.4354G>A p.D1452N Missense 17/23 - 2
1-232564222-A-G c.4345T>C p.S1449P Missense 17/23 - 2
1-232564223-C-A c.4344G>T p.L1448= Synonymous 17/23 - 1
1-232564223-C-G c.4344G>C p.L1448= Synonymous 17/23 - 1
1-232564223-C-T c.4344G>A p.L1448= Synonymous 17/23 - 1
1-232564225-G-A c.4342C>T p.L1448= Synonymous 17/23 - 1
1-232564227-A-G c.4340T>C p.V1447A Missense 17/23 - 1
1-232564233-T-A c.4334A>T p.Q1445L Missense 17/23 - 1
1-232564233-T-TG c.4333dup p.Q1445Pfs*6 Frameshift 17/23 - 1
1-232564234-G-A c.4333C>T p.Q1445* Nonsense 17/23 - 1
1-232564248-G-C c.4319C>G p.A1440G Missense 17/23 - 1
1-232564251-AT-A c.4316del p.D1439Vfs*16 Frameshift 17/23 - 1
1-232564254-CCCA-C c.4310_4312del p.V1437del InFrameDeletion 17/23 - 1
1-232564259-CAC-AAA c.4306_4308delinsTTT p.V1436F Missense 17/23 - 1
1-232564260-A-C c.4307T>G p.V1436G Missense 17/23 - 1
1-232564261-C-A c.4306G>T p.V1436L Missense 17/23 - 2
1-232564261-C-G c.4306G>C p.V1436L Missense 17/23 - 1
1-232564263-G-A c.4304C>T p.T1435I Missense 17/23 - 1
1-232564265-C-A c.4302G>T p.Q1434H Missense 17/23 - 1
1-232564265-C-G c.4302G>C p.Q1434H Missense 17/23 - 1
1-232564266-T-A c.4301A>T p.Q1434L Missense 17/23 - 2
1-232564275-G-A c.4292C>T p.T1431I Missense 17/23 - 1
1-232564278-G-A c.4289C>T p.A1430V Missense 17/23 - 5
1-232564279-C-T c.4288G>A p.A1430T Missense 17/23 - 1
1-232564281-G-A c.4286C>T p.T1429I Missense 17/23 - 1
1-232564288-T-A c.4279A>T p.M1427L Missense 17/23 - 1
1-232564288-T-G c.4279A>C p.M1427L Missense 17/23 - 13
1-232564295-C-T c.4272G>A p.M1424I Missense 17/23 - 1
1-232564297-T-A c.4270A>T p.M1424L Missense 17/23 - 15
1-232564297-T-G c.4270A>C p.M1424L Missense 17/23 - 1
1-232564299-T-TC c.4267dup p.E1423Gfs*28 Frameshift 17/23 - 1
1-232564300-C-T c.4267G>A p.E1423K Missense 17/23 - 1
1-232564300-C-CA c.4266dup p.E1423* Nonsense 17/23 - 2
1-232564301-A-G c.4266T>C p.S1422= Synonymous 17/23 - 1
1-232567163-AT-A c.4256+829del - IntronicDeletion - 16/22 1
1-232567786-C-A c.4256+207G>T - IntronicSNV - 16/22 1
1-232567946-C-T c.4256+47G>A - IntronicSNV - 16/22 5
1-232567984-C-T c.4256+9G>A - IntronicSNV - 16/22 1
1-232567994-C-G c.4255G>C p.G1419R Missense 16/23 - 1
1-232567994-C-T c.4255G>A p.G1419R Missense 16/23 - 2
1-232567995-G-A c.4254C>T p.P1418= Synonymous 16/23 - 2
1-232567995-G-C c.4254C>G p.P1418= Synonymous 16/23 - 2
1-232567995-G-T c.4254C>A p.P1418= Synonymous 16/23 - 2
1-232567996-G-A c.4253C>T p.P1418L Missense 16/23 - 4
1-232567997-G-A c.4252C>T p.P1418S Missense 16/23 - 3
1-232568003-C-T c.4246G>A p.E1416K Missense 16/23 - 1
1-232568008-A-T c.4241T>A p.V1414E Missense 16/23 - 1
1-232568013-A-C c.4236T>G p.P1412= Synonymous 16/23 - 1
1-232568013-A-G c.4236T>C p.P1412= Synonymous 16/23 - 1
1-232568013-A-T c.4236T>A p.P1412= Synonymous 16/23 - 1
1-232568018-C-A c.4231G>T p.E1411* Nonsense 16/23 - 3
1-232568021-C-A c.4228G>T p.E1410* Nonsense 16/23 - 4
1-232568021-C-T c.4228G>A p.E1410K Missense 16/23 - 4
1-232568022-G-A c.4227C>T p.P1409= Synonymous 16/23 - 1
1-232568022-G-C c.4227C>G p.P1409= Synonymous 16/23 - 1
1-232568022-G-T c.4227C>A p.P1409= Synonymous 16/23 - 1
1-232568025-C-A c.4224G>T p.P1408= Synonymous 16/23 - 2
1-232568025-C-G c.4224G>C p.P1408= Synonymous 16/23 - 2
1-232568025-C-T c.4224G>A p.P1408= Synonymous 16/23 - 4
1-232568030-G-A c.4219C>T p.P1407S Missense 16/23 - 1
1-232568030-G-C c.4219C>G p.P1407A Missense 16/23 - 1
1-232568031-G-A c.4218C>T p.S1406= Synonymous 16/23 - 1
1-232568035-C-A c.4214G>T p.G1405V Missense 16/23 - 1
1-232568036-C-T c.4213G>A p.G1405S Missense 16/23 - 3
1-232568039-C-T c.4210G>A p.E1404K Missense 16/23 - 1
1-232568040-C-A c.4209G>T p.S1403= Synonymous 16/23 - 1
1-232568040-C-G c.4209G>C p.S1403= Synonymous 16/23 - 1
1-232568040-C-T c.4209G>A p.S1403= Synonymous 16/23 - 1
1-232568041-G-A c.4208C>T p.S1403L Missense 16/23 - 23
1-232568046-C-A c.4203G>T p.K1401N Missense 16/23 - 4
1-232568046-C-G c.4203G>C p.K1401N Missense 16/23 - 2
1-232568052-G-A c.4197C>T p.G1399= Synonymous 16/23 - 1
1-232568052-G-C c.4197C>G p.G1399= Synonymous 16/23 - 1
1-232568052-G-T c.4197C>A p.G1399= Synonymous 16/23 - 1
1-232568055-G-A c.4194C>T p.I1398= Synonymous 16/23 - 4
1-232568055-G-T c.4194C>A p.I1398= Synonymous 16/23 - 3
1-232568058-GAC-CAT c.4189_4191delinsATG p.V1397M Missense 16/23 - 1
1-232568088-G-A c.4161C>T p.Y1387= Synonymous 16/23 - 1
1-232568092-G-T c.4157C>A p.P1386H Missense 16/23 - 1
1-232568100-C-A c.4149G>T p.M1383I Missense 16/23 - 1
1-232568100-C-G c.4149G>C p.M1383I Missense 16/23 - 1
1-232568100-C-T c.4149G>A p.M1383I Missense 16/23 - 1
1-232568104-G-A c.4145C>T p.S1382F Missense 16/23 - 1
1-232568104-G-C c.4145C>G p.S1382C Missense 16/23 - 1
1-232568105-A-G c.4144T>C p.S1382P Missense 16/23 - 2
1-232568108-C-A c.4141G>T p.G1381W Missense 16/23 - 3
1-232568108-C-G c.4141G>C p.G1381R Missense 16/23 - 1
1-232568108-C-T c.4141G>A p.G1381R Missense 16/23 - 1
1-232568113-A-G c.4136T>C p.V1379A Missense 16/23 - 2
1-232568115-C-A c.4134G>T p.Q1378H Missense 16/23 - 1
1-232568115-C-G c.4134G>C p.Q1378H Missense 16/23 - 1
1-232568121-TCC-GCT c.4126_4128delinsAGC p.G1376S Missense 16/23 - 1
1-232568123-C-G c.4126G>C p.G1376R Missense 16/23 - 1
1-232568123-C-T c.4126G>A p.G1376R Missense 16/23 - 1
1-232568124-G-A c.4125C>T p.S1375= Synonymous 16/23 - 2
1-232568124-G-C c.4125C>G p.S1375R Missense 16/23 - 1
1-232568125-C-A c.4124G>T p.S1375I Missense 16/23 - 1
1-232568126-T-C c.4123A>G p.S1375G Missense 16/23 - 1
1-232568131-TGA-T c.4116_4117del p.H1373Qfs*40 Frameshift 16/23 - 1
1-232568139-G-A c.4110C>T p.I1370= Synonymous 16/23 - 1
1-232568140-A-G c.4109T>C p.I1370T Missense 16/23 - 1
1-232568146-A-C c.4103T>G p.V1368G Missense 16/23 - 2
1-232568152-G-A c.4097C>T p.S1366F Missense 16/23 - 3
1-232568155-G-A c.4094C>T p.S1365L Missense 16/23 - 4
1-232568158-T-A c.4091A>T p.D1364V Missense 16/23 - 1
1-232568164-G-A c.4085C>T p.S1362F Missense 16/23 - 2
1-232568164-GA-AG c.4084_4085delinsCT p.S1362L Missense 16/23 - 1
1-232568164-G-C c.4085C>G p.S1362C Missense 16/23 - 1
1-232568167-C-A c.4082G>T p.G1361V Missense 16/23 - 1
1-232568170-C-T c.4079G>A p.S1360N Missense 16/23 - 1
1-232568176-T-A c.4073A>T p.K1358I Missense 16/23 - 2
1-232568177-T-C c.4072A>G p.K1358E Missense 16/23 - 2
1-232568184-G-A c.4065C>T p.H1355= Synonymous 16/23 - 1
1-232568185-T-C c.4064A>G p.H1355R Missense 16/23 - 1
1-232568186-G-A c.4063C>T p.H1355Y Missense 16/23 - 1
1-232568191-G-A c.4058C>T p.S1353L Missense 16/23 - 1
1-232568201-C-T c.4048G>A p.G1350R Missense 16/23 - 1
1-232568203-G-A c.4046C>T p.S1349L Missense 16/23 - 1
1-232568209-T-C c.4040A>G p.H1347R Missense 16/23 - 1
1-232568216-C-CG c.4032_4033insC p.G1345Rfs*16 SpliceAcceptorInsertion 16/23 - 1
1-232568216-C-CT c.4032_4033insA p.G1345Rfs*16 SpliceAcceptorInsertion 16/23 - 1
1-232568216-C-CA c.4032dup p.G1345Wfs*16 SpliceAcceptorInsertion - - 1
1-232568223-G-A c.4032-6C>T - IntronicSNV - 15/22 1
1-232568223-G-C c.4032-6C>G - IntronicSNV - 15/22 1
1-232568293-A-G c.4032-76T>C - IntronicSNV - 15/22 6
1-232568409-C-T c.4032-192G>A - IntronicSNV - 15/22 1
1-232569050-G-C c.4032-833C>G - IntronicSNV - 15/22 1
1-232569124-G-A c.4032-907C>T - IntronicSNV - 15/22 4
1-232569624-T-C c.4032-1407A>G - IntronicSNV - 15/22 1
1-232572461-C-T c.4031+2393G>A - IntronicSNV - 15/22 1
1-232572495-A-G c.4031+2359T>C - IntronicSNV - 15/22 1
1-232573701-C-T c.4031+1153G>A - IntronicSNV - 15/22 1
1-232574770-T-C c.4031+84A>G - IntronicSNV - 15/22 1
1-232574863-G-C c.4022C>G p.S1341C Missense 15/23 - 2
1-232574866-G-A c.4019C>T p.S1340F Missense 15/23 - 1
1-232574868-T-C c.4017A>G p.I1339M Missense 15/23 - 1
1-232574882-C-T c.4003G>A p.D1335N Missense 15/23 - 2
1-232574888-T-C c.3997A>G p.M1333V Missense 15/23 - 1
1-232574893-C-G c.3992G>C p.G1331A Missense 15/23 - 1
1-232574894-C-T c.3991G>A p.G1331S Missense 15/23 - 1
1-232574897-C-T c.3988G>A p.E1330K Missense 15/23 - 1
1-232574902-G-A c.3983C>T p.A1328V Missense 15/23 - 1
1-232574906-T-A c.3979A>T p.S1327C Missense 15/23 - 1
1-232574908-C-T c.3977G>A p.G1326D Missense 15/23 - 1
1-232574909-C-T c.3976G>A p.G1326S Missense 15/23 - 4
1-232574913-G-A c.3972C>T p.S1324= Synonymous 15/23 - 1
1-232574914-G-A c.3971C>T p.S1324F Missense 15/23 - 3
1-232574919-G-A c.3966C>T p.T1322= Synonymous 15/23 - 1
1-232574919-G-C c.3966C>G p.T1322= Synonymous 15/23 - 1
1-232574919-G-T c.3966C>A p.T1322= Synonymous 15/23 - 1
1-232574921-T-C c.3964A>G p.T1322A Missense 15/23 - 31
1-232574923-G-A c.3962C>T p.S1321F Missense 15/23 - 3
1-232574925-C-T c.3960G>A p.A1320= Synonymous 15/23 - 2
1-232574927-C-T c.3958G>A p.A1320T Missense 15/23 - 2
1-232574928-G-A c.3957C>T p.Y1319= Synonymous 15/23 - 1
1-232574933-C-A c.3952G>T p.G1318C Missense 15/23 - 1
1-232574934-A-G c.3951T>C p.H1317= Synonymous 15/23 - 1
1-232574935-T-C c.3950A>G p.H1317R Missense 15/23 - 1
1-232574937-C-A c.3948G>T p.V1316= Synonymous 15/23 - 1
1-232574937-CAC-GAT c.3946_3948delinsATC p.V1316I Missense 15/23 - 1
1-232574942-A-T c.3943T>A p.S1315T Missense 15/23 - 1
1-232574960-C-T c.3925G>A p.E1309K Missense 15/23 - 1
1-232574961-G-A c.3924C>T p.D1308= Synonymous 15/23 - 1
1-232574963-C-T c.3922G>A p.D1308N Missense 15/23 - 2
1-232574964-G-A c.3921C>T p.D1307= Synonymous 15/23 - 2
1-232574968-G-A c.3917C>T p.P1306L Missense 15/23 - 1
1-232574968-G-C c.3917C>G p.P1306R Missense 15/23 - 3
1-232574972-C-G c.3913G>C p.G1305R Missense 15/23 - 1
1-232574972-C-T c.3913G>A p.G1305R Missense 15/23 - 1
1-232574974-G-A c.3911C>T p.S1304F Missense 15/23 - 2
1-232574979-G-A c.3906C>T p.D1302= Synonymous 15/23 - 4
1-232574981-C-T c.3904G>A p.D1302N Missense 15/23 - 2
1-232574983-G-A c.3902C>T p.A1301V Missense 15/23 - 1
1-232574990-C-T c.3895G>A p.D1299N Missense 15/23 - 1
1-232574991-A-C c.3894T>G p.A1298= Synonymous 15/23 - 1
1-232574991-A-G c.3894T>C p.A1298= Synonymous 15/23 - 1
1-232574991-A-T c.3894T>A p.A1298= Synonymous 15/23 - 1
1-232574993-C-A c.3892G>T p.A1298S Missense 15/23 - 4
1-232574998-T-A c.3887A>T p.Q1296L Missense 15/23 - 1
1-232575001-T-C c.3884A>G p.E1295G Missense 15/23 - 2
1-232575004-G-A c.3881C>T p.A1294V Missense 15/23 - 1
1-232575005-C-T c.3880G>A p.A1294T Missense 15/23 - 1
1-232575007-C-A c.3878G>T p.R1293L Missense 15/23 - 2
1-232575007-C-T c.3878G>A p.R1293Q Missense 15/23 - 4
1-232575010-C-A c.3875G>T p.S1292I Missense 15/23 - 1
1-232575016-A-G c.3869T>C p.I1290T Missense 15/23 - 2
1-232575018-C-A c.3867G>T p.L1289= Synonymous 15/23 - 1
1-232575018-C-G c.3867G>C p.L1289= Synonymous 15/23 - 1
1-232575018-C-T c.3867G>A p.L1289= Synonymous 15/23 - 1
1-232575020-G-A c.3865C>T p.L1289= Synonymous 15/23 - 1
1-232575019-A-G c.3866T>C p.L1289P Missense 15/23 - 1
1-232575022-G-A c.3863C>T p.S1288F Missense 15/23 - 4
1-232575022-G-T c.3863C>A p.S1288Y Missense 15/23 - 1
1-232575023-A-T c.3862T>A p.S1288T Missense 15/23 - 3
1-232575031-C-T c.3854G>A p.G1285D Missense 15/23 - 1
1-232575035-C-T c.3850G>A p.A1284T Missense 15/23 - 2
1-232575041-G-A c.3844C>T p.H1282Y Missense 15/23 - 1
1-232575044-C-G c.3841G>C p.V1281L Missense 15/23 - 1
1-232575050-C-A c.3835G>T p.G1279C Missense 15/23 - 1
1-232575051-G-A c.3834C>T p.L1278= Synonymous 15/23 - 1
1-232575051-G-T c.3834C>A p.L1278= Synonymous 15/23 - 2
1-232575057-G-A c.3828C>T p.T1276= Synonymous 15/23 - 1
1-232575061-G-A c.3824C>T p.A1275V Missense 15/23 - 1
1-232575068-T-C c.3817A>G p.M1273V Missense 15/23 - 2
1-232575072-G-A c.3813C>T p.P1271= Synonymous 15/23 - 2
1-232575072-G-C c.3813C>G p.P1271= Synonymous 15/23 - 1
1-232575072-G-T c.3813C>A p.P1271= Synonymous 15/23 - 1
1-232575074-G-T c.3811C>A p.P1271T Missense 15/23 - 1
1-232575071-AG-A c.3813del p.C1272Afs*18 Frameshift 15/23 - 1
1-232575078-C-A c.3807G>T p.T1269= Synonymous 15/23 - 3
1-232575078-C-G c.3807G>C p.T1269= Synonymous 15/23 - 3
1-232575078-C-T c.3807G>A p.T1269= Synonymous 15/23 - 3
1-232575079-G-A c.3806C>T p.T1269M Missense 15/23 - 4
1-232575083-C-T c.3802G>A p.D1268N Missense 15/23 - 2
1-232575084-G-A c.3801C>T p.I1267= Synonymous 15/23 - 1
1-232575085-A-G c.3800T>C p.I1267T Missense 15/23 - 1
1-232575087-G-A c.3798C>T p.G1266= Synonymous 15/23 - 1
1-232575087-G-C c.3798C>G p.G1266= Synonymous 15/23 - 1
1-232575087-G-T c.3798C>A p.G1266= Synonymous 15/23 - 1
1-232575088-C-T c.3797G>A p.G1266D Missense 15/23 - 2
1-232575094-T-C c.3791A>G p.D1264G Missense 15/23 - 1
1-232575095-C-T c.3790G>A p.D1264N Missense 15/23 - 4
1-232575096-G-A c.3789C>T p.T1263= Synonymous 15/23 - 1
1-232575096-G-C c.3789C>G p.T1263= Synonymous 15/23 - 1
1-232575096-G-T c.3789C>A p.T1263= Synonymous 15/23 - 1
1-232575097-G-A c.3788C>T p.T1263I Missense 15/23 - 1
1-232575095-CGGT-C c.3787_3789del p.T1263del InFrameDeletion 15/23 - 1
1-232575102-G-A c.3783C>T p.A1261= Synonymous 15/23 - 1
1-232575102-G-C c.3783C>G p.A1261= Synonymous 15/23 - 1
1-232575102-G-T c.3783C>A p.A1261= Synonymous 15/23 - 1
1-232575106-C-T c.3779G>A p.G1260E Missense 15/23 - 1
1-232575113-T-A c.3772A>T p.I1258F Missense 15/23 - 4
1-232575113-T-C c.3772A>G p.I1258V Missense 15/23 - 1
1-232575118-G-A c.3767C>T p.T1256I Missense 15/23 - 1
1-232575122-G-A c.3763C>T p.L1255= Synonymous 15/23 - 1
1-232575123-C-A c.3762G>T p.G1254= Synonymous 15/23 - 1
1-232575123-C-G c.3762G>C p.G1254= Synonymous 15/23 - 1
1-232575123-C-T c.3762G>A p.G1254= Synonymous 15/23 - 1
1-232575126-C-A c.3759G>T p.L1253= Synonymous 15/23 - 1
1-232575136-G-A c.3749C>T p.P1250L Missense 15/23 - 1
1-232575141-C-A c.3744G>T p.M1248I Missense 15/23 - 1
1-232575141-C-G c.3744G>C p.M1248I Missense 15/23 - 1
1-232575141-C-T c.3744G>A p.M1248I Missense 15/23 - 1
1-232575147-G-C c.3738C>G p.D1246E Missense 15/23 - 1
1-232575147-G-T c.3738C>A p.D1246E Missense 15/23 - 1
1-232575150-G-A c.3735C>T p.G1245= Synonymous 15/23 - 1
1-232575153-A-C c.3732T>G p.S1244= Synonymous 15/23 - 1
1-232575153-A-G c.3732T>C p.S1244= Synonymous 15/23 - 1
1-232575153-A-T c.3732T>A p.S1244= Synonymous 15/23 - 1
1-232575155-A-G c.3730T>C p.S1244P Missense 15/23 - 1
1-232575163-T-C c.3722A>G p.H1241R Missense 15/23 - 1
1-232575164-G-A c.3721C>T p.H1241Y Missense 15/23 - 2
1-232575166-T-C c.3719A>G p.K1240R Missense 15/23 - 1
1-232575170-C-T c.3715G>A p.D1239N Missense 15/23 - 1
1-232575175-C-G c.3710G>C p.S1237T Missense 15/23 - 1
1-232575181-C-T c.3704G>A p.S1235N Missense 15/23 - 1
1-232575187-G-A c.3698C>T p.T1233I Missense 15/23 - 1
1-232575198-G-C c.3687C>G p.L1229= Synonymous 15/23 - 1
1-232575199-A-G c.3686T>C p.L1229P Missense 15/23 - 1
1-232575201-C-A c.3684G>T p.T1228= Synonymous 15/23 - 3
1-232575201-C-G c.3684G>C p.T1228= Synonymous 15/23 - 3
1-232575201-C-T c.3684G>A p.T1228= Synonymous 15/23 - 5
1-232575202-G-A c.3683C>T p.T1228M Missense 15/23 - 1
1-232575207-G-C c.3678C>G p.S1226R Missense 15/23 - 1
1-232575207-G-T c.3678C>A p.S1226R Missense 15/23 - 1
1-232575209-T-G c.3676A>C p.S1226R Missense 15/23 - 1
1-232575208-C-T c.3677G>A p.S1226N Missense 15/23 - 1
1-232575211-C-T c.3674G>A p.S1225N Missense 15/23 - 3
1-232575214-G-T c.3671C>A p.S1224Y Missense 15/23 - 3
1-232575217-T-A c.3668A>T p.H1223L Missense 15/23 - 1
1-232575218-G-A c.3667C>T p.H1223Y Missense 15/23 - 2
1-232575241-A-G c.3644T>C p.I1215T Missense 15/23 - 1
1-232575539-G-A c.3643-297C>T - IntronicSNV - 14/22 1
1-232576594-C-A c.3642+443G>T - IntronicSNV - 14/22 1
1-232576594-C-T c.3642+443G>A - IntronicSNV - 14/22 1
1-232576967-T-C c.3642+70A>G - IntronicSNV - 14/22 1
1-232576998-T-A c.3642+39A>T - IntronicSNV - 14/22 7
1-232577037-G-A c.3642C>T p.H1214= Synonymous 14/23 - 6
1-232577041-G-T c.3638C>A p.S1213Y Missense 14/23 - 3
1-232577045-G-T c.3634C>A p.L1212I Missense 14/23 - 1
1-232577048-T-C c.3631A>G p.K1211E Missense 14/23 - 1
1-232577053-G-A c.3626C>T p.P1209L Missense 14/23 - 2
1-232577054-G-A c.3625C>T p.P1209S Missense 14/23 - 2
1-232577056-G-A c.3623C>T p.S1208F Missense 14/23 - 1
1-232577060-C-A c.3619G>T p.D1207Y Missense 14/23 - 2
1-232577068-C-T c.3611G>A p.S1204N Missense 14/23 - 1
1-232577069-T-C c.3610A>G p.S1204G Missense 14/23 - 1
1-232577078-T-C c.3601A>G p.K1201E Missense 14/23 - 2
1-232577082-C-A c.3597G>T p.L1199= Synonymous 14/23 - 1
1-232577089-C-T c.3590G>A p.R1197K Missense 14/23 - 2
1-232577093-CT-C c.3585del p.E1196Kfs*52 Frameshift 14/23 - 1
1-232577098-T-C c.3581A>G p.Y1194C Missense 14/23 - 4
1-232577103-A-C c.3576T>G p.G1192= Synonymous 14/23 - 1
1-232577103-A-G c.3576T>C p.G1192= Synonymous 14/23 - 1
1-232577103-A-T c.3576T>A p.G1192= Synonymous 14/23 - 3
1-232577107-A-G c.3572T>C p.L1191P Missense 14/23 - 1
1-232577108-G-A c.3571C>T p.L1191= Synonymous 14/23 - 2
1-232577111-C-G c.3568G>C p.V1190L Missense 14/23 - 2
1-232577115-G-C c.3564C>G p.S1188= Synonymous 14/23 - 2
1-232577125-C-T c.3554G>A p.G1185D Missense 14/23 - 1
1-232577126-C-A c.3553G>T p.G1185C Missense 14/23 - 1
1-232577129-G-A c.3550C>T p.H1184Y Missense 14/23 - 1
1-232577135-T-C c.3544A>G p.K1182E Missense 14/23 - 1
1-232577262-C-T c.3539-122G>A - IntronicSNV - 13/22 1
1-232577281-T-G c.3539-141A>C - IntronicSNV - 13/22 6
1-232577517-G-T c.3535C>A p.P1179T Missense 13/23 - 1
1-232577519-T-G c.3533A>C p.H1178P Missense 13/23 - 1
1-232577520-GC-G c.3531del p.R1177Sfs*71 Frameshift 13/23 - 1
1-232577524-G-C c.3528C>G p.S1176R Missense 13/23 - 2
1-232577524-G-T c.3528C>A p.S1176R Missense 13/23 - 1
1-232577526-T-G c.3526A>C p.S1176R Missense 13/23 - 1
1-232577525-C-T c.3527G>A p.S1176N Missense 13/23 - 2
1-232577529-C-T c.3523G>A p.A1175T Missense 13/23 - 2
1-232577532-C-A c.3520G>T p.E1174* Nonsense 13/23 - 1
1-232577536-G-A c.3516C>T p.T1172= Synonymous 13/23 - 1
1-232577541-C-CT c.3510dup p.D1171Rfs*25 Frameshift 13/23 - 1
1-232577544-CCCT-C c.3505_3507del p.R1169del InFrameDeletion 13/23 - 1
1-232577546-C-A c.3506G>T p.R1169M Missense 13/23 - 1
1-232577550-C-T c.3502G>A p.E1168K Missense 13/23 - 1
1-232577551-C-T c.3501G>A p.R1167= Synonymous 13/23 - 1
1-232577553-T-C c.3499A>G p.R1167G Missense 13/23 - 2
1-232577556-C-T c.3496G>A p.A1166T Missense 13/23 - 1
1-232577558-C-A c.3494G>T p.G1165V Missense 13/23 - 1
1-232577559-C-G c.3493G>C p.G1165R Missense 13/23 - 1
1-232577559-C-T c.3493G>A p.G1165R Missense 13/23 - 1
1-232577560-G-A c.3492C>T p.D1164= Synonymous 13/23 - 2
1-232577564-C-T c.3488G>A p.C1163Y Missense 13/23 - 1
1-232577574-G-A c.3478C>T p.P1160S Missense 13/23 - 1
1-232577575-G-A c.3477C>T p.G1159= Synonymous 13/23 - 1
1-232577575-G-C c.3477C>G p.G1159= Synonymous 13/23 - 1
1-232577575-G-T c.3477C>A p.G1159= Synonymous 13/23 - 1
1-232577578-T-A c.3474A>T p.S1158= Synonymous 13/23 - 1
1-232577578-T-C c.3474A>G p.S1158= Synonymous 13/23 - 1
1-232577578-T-G c.3474A>C p.S1158= Synonymous 13/23 - 1
1-232577582-C-A c.3470G>T p.G1157V Missense 13/23 - 1
1-232577583-C-A c.3469G>T p.G1157C Missense 13/23 - 1
1-232577592-C-T c.3460G>A p.E1154K Missense 13/23 - 1
1-232577593-G-A c.3459C>T p.L1153= Synonymous 13/23 - 1
1-232577593-G-C c.3459C>G p.L1153= Synonymous 13/23 - 1
1-232577593-G-T c.3459C>A p.L1153= Synonymous 13/23 - 2
1-232577603-G-A c.3449C>T p.P1150L Missense 13/23 - 2
1-232577604-G-T c.3448C>A p.P1150T Missense 13/23 - 1
1-232577605-G-A c.3447C>T p.S1149= Synonymous 13/23 - 1
1-232577605-G-C c.3447C>G p.S1149= Synonymous 13/23 - 1
1-232577605-G-T c.3447C>A p.S1149= Synonymous 13/23 - 1
1-232577611-G-A c.3441C>T p.C1147= Synonymous 13/23 - 1
1-232577612-C-T c.3440G>A p.C1147Y Missense 13/23 - 1
1-232577614-C-A c.3438G>T p.G1146= Synonymous 13/23 - 3
1-232577614-C-G c.3438G>C p.G1146= Synonymous 13/23 - 3
1-232577614-C-T c.3438G>A p.G1146= Synonymous 13/23 - 3
1-232578956-C-T c.3437+392G>A - IntronicSNV - 12/22 1
1-232579003-CA-C c.3437+344del - IntronicDeletion - 12/22 1
1-232579347-C-A c.3437+1G>T - IntronicSNV - 12/22 1
1-232579348-C-T c.3437G>A p.G1146E Missense 12/23 - 1
1-232579349-C-G c.3436G>C p.G1146R Missense 12/23 - 2
1-232579349-C-T c.3436G>A p.G1146R Missense 12/23 - 2
1-232579350-G-A c.3435C>T p.D1145= Synonymous 12/23 - 1
1-232579355-A-G c.3430T>C p.Y1144H Missense 12/23 - 1
1-232579360-A-G c.3425T>C p.V1142A Missense 12/23 - 3
1-232579361-C-A c.3424G>T p.V1142L Missense 12/23 - 1
1-232579361-C-G c.3424G>C p.V1142L Missense 12/23 - 1
1-232579365-T-G c.3420A>C p.P1140= Synonymous 12/23 - 1
1-232579369-C-A c.3416G>T p.R1139I Missense 12/23 - 1
1-232579369-C-T c.3416G>A p.R1139K Missense 12/23 - 2
1-232579369-CT-AG c.3415_3416inv p.R1139L Missense 12/23 - 1
1-232579371-C-T c.3414G>A p.W1138* Nonsense 12/23 - 2
1-232579372-C-T c.3413G>A p.W1138* Nonsense 12/23 - 4
1-232579376-G-T c.3409C>A p.P1137T Missense 12/23 - 1
1-232579379-C-G c.3406G>C p.G1136R Missense 12/23 - 1
1-232579379-C-T c.3406G>A p.G1136R Missense 12/23 - 1
1-232579380-G-A c.3405C>T p.S1135= Synonymous 12/23 - 1
1-232579383-CC-GT c.3401_3402delinsAC p.G1134D Missense 12/23 - 1
1-232579384-C-T c.3401G>A p.G1134E Missense 12/23 - 2
1-232579385-C-G c.3400G>C p.G1134R Missense 12/23 - 1
1-232579385-C-T c.3400G>A p.G1134R Missense 12/23 - 1
1-232579386-G-A c.3399C>T p.G1133= Synonymous 12/23 - 1
1-232579386-G-C c.3399C>G p.G1133= Synonymous 12/23 - 1
1-232579386-G-T c.3399C>A p.G1133= Synonymous 12/23 - 1
1-232579389-G-A c.3396C>T p.P1132= Synonymous 12/23 - 1
1-232579393-C-G c.3392G>C p.G1131A Missense 12/23 - 1
1-232579394-C-A c.3391G>T p.G1131* Nonsense 12/23 - 1
1-232579394-C-T c.3391G>A p.G1131R Missense 12/23 - 1
1-232579395-AG-TT c.3389_3390delinsAA p.P1130Q Missense 12/23 - 1
1-232579400-C-T c.3385G>A p.D1129N Missense 12/23 - 3
1-232579402-C-T c.3383G>A p.S1128N Missense 12/23 - 1
1-232579402-CT-AA c.3382_3383delinsTT p.S1128F Missense 12/23 - 1
1-232579408-G-T c.3377C>A p.S1126Y Missense 12/23 - 1
1-232579413-C-T c.3372G>A p.Q1124= Synonymous 12/23 - 1
1-232579419-G-T c.3366C>A p.S1122R Missense 12/23 - 1
1-232579422-G-C c.3363C>G p.P1121= Synonymous 12/23 - 1
1-232579424-G-T c.3361C>A p.P1121T Missense 12/23 - 4
1-232579597-T-A c.3354-166A>T - IntronicSNV - 11/22 8
1-232581247-C-A c.3353+28G>T - IntronicSNV - 11/22 4
1-232581247-C-G c.3353+28G>C - IntronicSNV - 11/22 7
1-232581261-G-A c.3353+14C>T - IntronicSNV - 11/22 1
1-232581275-C-A c.3353G>T p.R1118I Missense 11/23 - 2
1-232581277-C-T c.3351G>A p.T1117= Synonymous 11/23 - 2
1-232581279-T-C c.3349A>G p.T1117A Missense 11/23 - 1
1-232581285-C-A c.3343G>T p.D1115Y Missense 11/23 - 1
1-232581285-C-T c.3343G>A p.D1115N Missense 11/23 - 7
1-232581295-C-T c.3333G>A p.R1111= Synonymous 11/23 - 1
1-232581296-C-T c.3332G>A p.R1111Q Missense 11/23 - 4
1-232581297-G-A c.3331C>T p.R1111W Missense 11/23 - 1
1-232581298-G-A c.3330C>T p.D1110= Synonymous 11/23 - 1
1-232581298-G-C c.3330C>G p.D1110E Missense 11/23 - 2
1-232581301-G-A c.3327C>T p.F1109= Synonymous 11/23 - 3
1-232581305-GA-AG c.3322_3323delinsCT p.S1108L Missense 11/23 - 1
1-232581311-C-A c.3317G>T p.S1106I Missense 11/23 - 1
1-232581314-C-A c.3314G>T p.R1105L Missense 11/23 - 2
1-232581315-G-A c.3313C>T p.R1105* Nonsense 11/23 - 5
1-232581315-G-C c.3313C>G p.R1105G Missense 11/23 - 1
1-232581321-T-A c.3307A>T p.I1103F Missense 11/23 - 1
1-232581327-C-A c.3301G>T p.A1101S Missense 11/23 - 1
1-232581327-C-T c.3301G>A p.A1101T Missense 11/23 - 1
1-232581332-G-A c.3296C>T p.A1099V Missense 11/23 - 1
1-232581334-C-A c.3294G>T p.Q1098H Missense 11/23 - 1
1-232581334-C-G c.3294G>C p.Q1098H Missense 11/23 - 1
1-232581335-T-C c.3293A>G p.Q1098R Missense 11/23 - 2
1-232581337-C-A c.3291G>T p.Q1097H Missense 11/23 - 2
1-232581337-C-G c.3291G>C p.Q1097H Missense 11/23 - 2
1-232581339-G-A c.3289C>T p.Q1097* Nonsense 11/23 - 3
1-232581341-A-C c.3287T>G p.L1096R Missense 11/23 - 1
1-232581351-G-A c.3277C>T p.Q1093* Nonsense 11/23 - 2
1-232581353-C-G c.3275G>C p.C1092S Missense 11/23 - 1
1-232581354-A-T c.3274T>A p.C1092S Missense 11/23 - 1
1-232581355-C-T c.3273G>A p.P1091= Synonymous 11/23 - 1
1-232581362-C-A c.3266G>T p.R1089L Missense 11/23 - 2
1-232581363-G-A c.3265C>T p.R1089W Missense 11/23 - 3
1-232581365-T-C c.3263A>G p.D1088G Missense 11/23 - 1
1-232581366-C-T c.3262G>A p.D1088N Missense 11/23 - 8
1-232581367-G-A c.3261C>T p.P1087= Synonymous 11/23 - 3
1-232581367-G-C c.3261C>G p.P1087= Synonymous 11/23 - 1
1-232581367-G-T c.3261C>A p.P1087= Synonymous 11/23 - 1
1-232581369-G-A c.3259C>T p.P1087S Missense 11/23 - 3
1-232581370-C-A c.3258G>T p.T1086= Synonymous 11/23 - 1
1-232581370-C-G c.3258G>C p.T1086= Synonymous 11/23 - 1
1-232581370-C-T c.3258G>A p.T1086= Synonymous 11/23 - 1
1-232581371-G-A c.3257C>T p.T1086M Missense 11/23 - 2
1-232581375-C-T c.3253G>A p.G1085S Missense 11/23 - 2
1-232581376-G-A c.3252C>T p.P1084= Synonymous 11/23 - 7
1-232581376-G-C c.3252C>G p.P1084= Synonymous 11/23 - 3
1-232581376-G-T c.3252C>A p.P1084= Synonymous 11/23 - 3
1-232581378-G-A c.3250C>T p.P1084S Missense 11/23 - 1
1-232581381-T-G c.3247A>C p.I1083L Missense 11/23 - 1
1-232581385-G-A c.3243C>T p.S1081= Synonymous 11/23 - 1
1-232581385-G-C c.3243C>G p.S1081= Synonymous 11/23 - 1
1-232581385-G-T c.3243C>A p.S1081= Synonymous 11/23 - 1
1-232581386-G-A c.3242C>T p.S1081F Missense 11/23 - 1
1-232581392-C-G c.3236G>C p.R1079T Missense 11/23 - 1
1-232581393-T-C c.3235A>G p.R1079G Missense 11/23 - 5
1-232581396-A-C c.3232T>G p.S1078A Missense 11/23 - 1
1-232581397-G-A c.3231C>T p.L1077= Synonymous 11/23 - 1
1-232581397-G-C c.3231C>G p.L1077= Synonymous 11/23 - 1
1-232581397-G-T c.3231C>A p.L1077= Synonymous 11/23 - 1
1-232581398-A-G c.3230T>C p.L1077P Missense 11/23 - 2
1-232581399-G-T c.3229C>A p.L1077I Missense 11/23 - 1
1-232581400-G-A c.3228C>T p.P1076= Synonymous 11/23 - 1
1-232581401-G-A c.3227C>T p.P1076L Missense 11/23 - 1
1-232581403-C-T c.3225G>A p.Q1075= Synonymous 11/23 - 1
1-232581405-G-A c.3223C>T p.Q1075* Nonsense 11/23 - 3
1-232581406-C-A c.3222G>T p.L1074= Synonymous 11/23 - 1
1-232581406-C-G c.3222G>C p.L1074= Synonymous 11/23 - 1
1-232581406-C-T c.3222G>A p.L1074= Synonymous 11/23 - 1
1-232581408-G-A c.3220C>T p.L1074= Synonymous 11/23 - 1
1-232581409-G-A c.3219C>T p.A1073= Synonymous 11/23 - 1
1-232581410-G-A c.3218C>T p.A1073V Missense 11/23 - 1
1-232581413-G-A c.3215C>T p.P1072L Missense 11/23 - 5
1-232581415-A-C c.3213T>G p.T1071= Synonymous 11/23 - 1
1-232581415-A-G c.3213T>C p.T1071= Synonymous 11/23 - 2
1-232581415-A-T c.3213T>A p.T1071= Synonymous 11/23 - 1
1-232581422-A-G c.3206T>C p.V1069A Missense 11/23 - 1
1-232581425-C-T c.3203G>A p.R1068Q Missense 11/23 - 2
1-232581426-G-A c.3202C>T p.R1068W Missense 11/23 - 1
1-232581427-G-C c.3201C>G p.H1067Q Missense 11/23 - 1
1-232581427-G-T c.3201C>A p.H1067Q Missense 11/23 - 1
1-232581428-T-C c.3200A>G p.H1067R Missense 11/23 - 1
1-232581428-T-G c.3200A>C p.H1067P Missense 11/23 - 1
1-232581433-C-A c.3195G>T p.T1065= Synonymous 11/23 - 4
1-232581433-C-G c.3195G>C p.T1065= Synonymous 11/23 - 4
1-232581433-C-T c.3195G>A p.T1065= Synonymous 11/23 - 5
1-232581434-G-A c.3194C>T p.T1065M Missense 11/23 - 2
1-232581435-T-C c.3193A>G p.T1065A Missense 11/23 - 1
1-232581436-G-A c.3192C>T p.T1064= Synonymous 11/23 - 4
1-232581436-G-C c.3192C>G p.T1064= Synonymous 11/23 - 3
1-232581445-C-T c.3183G>A p.R1061= Synonymous 11/23 - 1
1-232581447-T-A c.3181A>T p.R1061W Missense 11/23 - 1
1-232581452-G-A c.3176C>T p.P1059L Missense 11/23 - 3
1-232581453-G-A c.3175C>T p.P1059S Missense 11/23 - 2
1-232581454-G-A c.3174C>T p.T1058= Synonymous 11/23 - 1
1-232581455-G-A c.3173C>T p.T1058I Missense 11/23 - 3
1-232581459-T-A c.3169A>T p.K1057* Nonsense 11/23 - 2
1-232581460-A-G c.3168T>C p.Y1056= Synonymous 11/23 - 4
1-232581470-G-A c.3158C>T p.P1053L Missense 11/23 - 4
1-232581471-G-A c.3157C>T p.P1053S Missense 11/23 - 1
1-232581468-AG-A c.3159del p.C1054Afs*194 Frameshift 11/23 - 2
1-232581473-G-A c.3155C>T p.T1052I Missense 11/23 - 1
1-232581473-G-C c.3155C>G p.T1052S Missense 11/23 - 2
1-232581474-T-A c.3154A>T p.T1052S Missense 11/23 - 1
1-232581477-C-T c.3151G>A p.G1051S Missense 11/23 - 2
1-232581486-C-T c.3142G>A p.D1048N Missense 11/23 - 2
1-232581492-T-C c.3136A>G p.K1046E Missense 11/23 - 5
1-232581498-C-T c.3130G>A p.E1044K Missense 11/23 - 3
1-232581501-C-T c.3127G>A p.V1043M Missense 11/23 - 2
1-232581507-G-A c.3121C>T p.P1041S Missense 11/23 - 3
1-232581507-G-T c.3121C>A p.P1041T Missense 11/23 - 1
1-232581512-C-T c.3116G>A p.R1039Q Missense 11/23 - 6
1-232581514-G-A c.3114C>T p.C1038= Synonymous 11/23 - 1
1-232581514-G-C c.3114C>G p.C1038W Missense 11/23 - 1
1-232581519-G-A c.3109C>T p.L1037F Missense 11/23 - 1
1-232581522-C-A c.3106G>T p.E1036* Nonsense 11/23 - 2
1-232581523-TG-AC c.3104_3105delinsGT p.S1035C Missense 11/23 - 1
1-232581528-A-G c.3100T>C p.C1034R Missense 11/23 - 3
1-232581530-C-A c.3098G>T p.G1033V Missense 11/23 - 1
1-232581667-G-A c.3096-135C>T - IntronicSNV - 10/22 1
1-232581667-G-T c.3096-135C>A - IntronicSNV - 10/22 1
1-232583227-C-T c.3096-1695G>A - IntronicSNV - 10/22 1
1-232584375-C-T c.3096-2843G>A - IntronicSNV - 10/22 1
1-232584462-G-A c.3096-2930C>T - IntronicSNV - 10/22 1
1-232590092-A-G c.3095+6541T>C - IntronicSNV - 10/22 1
1-232590866-A-G c.3095+5767T>C - IntronicSNV - 10/22 1
1-232591262-C-T c.3095+5371G>A - IntronicSNV - 10/22 1
1-232591925-A-C c.3095+4708T>G - IntronicSNV - 10/22 1
1-232592298-C-T c.3095+4335G>A - IntronicSNV - 10/22 1
1-232592930-G-GC c.3095+3702dup - IntronicInsertion - 10/22 1
1-232593206-T-C c.3095+3427A>G - IntronicSNV - 10/22 1
1-232593292-A-G c.3095+3341T>C - IntronicSNV - 10/22 1
1-232593475-T-C c.3095+3158A>G - IntronicSNV - 10/22 1
1-232594264-T-C c.3095+2369A>G - IntronicSNV - 10/22 1
1-232594857-T-C c.3095+1776A>G - IntronicSNV - 10/22 1
1-232595474-C-G c.3095+1159G>C - IntronicSNV - 10/22 1
1-232595474-C-T c.3095+1159G>A - IntronicSNV - 10/22 1
1-232596004-G-A c.3095+629C>T - IntronicSNV - 10/22 1
1-232596463-C-T c.3095+170G>A - IntronicSNV - 10/22 1
1-232596469-C-T c.3095+164G>A - IntronicSNV - 10/22 2
1-232596625-C-A c.3095+8G>T - IntronicSNV - 10/22 1
1-232596625-C-T c.3095+8G>A - IntronicSNV - 10/22 1
1-232596632-C-T c.3095+1G>A - IntronicSNV - 10/22 1
1-232596636-C-A c.3092G>T p.R1031L Missense 10/23 - 1
1-232596637-G-A c.3091C>T p.R1031* Nonsense 10/23 - 1
1-232596647-G-A c.3081C>T p.D1027= Synonymous 10/23 - 1
1-232596653-A-G c.3075T>C p.H1025= Synonymous 10/23 - 4
1-232596654-T-A c.3074A>T p.H1025L Missense 10/23 - 5
1-232596659-C-A c.3069G>T p.Q1023H Missense 10/23 - 2
1-232596659-C-G c.3069G>C p.Q1023H Missense 10/23 - 1
1-232596665-GA-CT c.3062_3063delinsAG p.I1021K Missense 10/23 - 1
1-232596675-T-C c.3053A>G p.K1018R Missense 10/23 - 1
1-232596678-A-G c.3050T>C p.V1017A Missense 10/23 - 1
1-232596679-C-T c.3049G>A p.V1017M Missense 10/23 - 2
1-232596680-A-G c.3048T>C p.T1016= Synonymous 10/23 - 1
1-232596693-C-T c.3035G>A p.R1012H Missense 10/23 - 4
1-232596694-G-A c.3034C>T p.R1012C Missense 10/23 - 1
1-232596695-G-A c.3033C>T p.L1011= Synonymous 10/23 - 2
1-232596695-G-C c.3033C>G p.L1011= Synonymous 10/23 - 1
1-232596695-G-T c.3033C>A p.L1011= Synonymous 10/23 - 1
1-232596703-C-T c.3025G>A p.D1009N Missense 10/23 - 3
1-232596704-G-A c.3024C>T p.I1008= Synonymous 10/23 - 2
1-232596707-C-A c.3021G>T p.M1007I Missense 10/23 - 1
1-232596707-C-G c.3021G>C p.M1007I Missense 10/23 - 1
1-232596707-C-T c.3021G>A p.M1007I Missense 10/23 - 1
1-232596712-G-C c.3016C>G p.Q1006E Missense 10/23 - 1
1-232596715-C-T c.3013G>A p.E1005K Missense 10/23 - 1
1-232596716-G-A c.3012C>T p.H1004= Synonymous 10/23 - 1
1-232596722-C-T c.3006G>A p.L1002= Synonymous 10/23 - 1
1-232596728-G-A c.3000C>T p.A1000= Synonymous 10/23 - 1
1-232596732-A-G c.2996T>C p.V999A Missense 10/23 - 1
1-232596734-G-A c.2994C>T p.A998= Synonymous 10/23 - 1
1-232596735-G-A c.2993C>T p.A998V Missense 10/23 - 2
1-232596737-TAC-AAA c.2989_2991delinsTTT p.V997F Missense 10/23 - 1
1-232596746-G-T c.2982C>A p.I994= Synonymous 10/23 - 1
1-232596749-C-G c.2979G>C p.E993D Missense 10/23 - 1
1-232596751-C-T c.2977G>A p.E993K Missense 10/23 - 1
1-232596754-C-T c.2974G>A p.V992M Missense 10/23 - 2
1-232596760-G-A c.2968C>T p.R990C Missense 10/23 - 1
1-232596761-G-A c.2967C>T p.S989= Synonymous 10/23 - 1
1-232596761-G-C c.2967C>G p.S989R Missense 10/23 - 1
1-232596761-G-T c.2967C>A p.S989R Missense 10/23 - 1
1-232596763-T-G c.2965A>C p.S989R Missense 10/23 - 1
1-232596765-C-T c.2963G>A p.G988E Missense 10/23 - 1
1-232596771-C-T c.2957G>A p.R986H Missense 10/23 - 1
1-232596772-G-A c.2956C>T p.R986C Missense 10/23 - 1
1-232596773-A-C c.2955T>G p.L985= Synonymous 10/23 - 1
1-232596775-G-A c.2953C>T p.L985F Missense 10/23 - 1
1-232596775-G-T c.2953C>A p.L985I Missense 10/23 - 1
1-232596785-C-A c.2943G>T p.W981C Missense 10/23 - 1
1-232596794-G-A c.2934C>T p.G978= Synonymous 10/23 - 2
1-232596806-C-A c.2922G>T p.V974= Synonymous 10/23 - 1
1-232596815-G-A c.2913C>T p.V971= Synonymous 10/23 - 2
1-232596815-G-C c.2913C>G p.V971= Synonymous 10/23 - 1
1-232596815-G-T c.2913C>A p.V971= Synonymous 10/23 - 1
1-232596822-C-T c.2906G>A p.G969E Missense 10/23 - 3
1-232596839-G-A c.2889C>T p.F963= Synonymous 10/23 - 1
1-232596848-C-A c.2880G>T p.Q960H Missense 10/23 - 2
1-232596848-C-G c.2880G>C p.Q960H Missense 10/23 - 2
1-232596854-C-A c.2874G>T p.L958= Synonymous 10/23 - 1
1-232596859-C-A c.2869G>T p.G957W Missense 10/23 - 2
1-232596860-G-A c.2868C>T p.N956= Synonymous 10/23 - 2
1-232596863-C-T c.2865G>A p.R955= Synonymous 10/23 - 2
1-232596865-T-G c.2863A>C p.R955= Synonymous 10/23 - 1
1-232596864-C-G c.2864G>C p.R955T Missense 10/23 - 1
1-232596867-C-T c.2861G>A p.R954K Missense 10/23 - 1
1-232596869-C-A c.2859G>T p.L953= Synonymous 10/23 - 1
1-232596869-C-G c.2859G>C p.L953= Synonymous 10/23 - 1
1-232596869-C-T c.2859G>A p.L953= Synonymous 10/23 - 3
1-232596871-G-A c.2857C>T p.L953= Synonymous 10/23 - 1
1-232596877-T-C c.2851A>G p.M951V Missense 10/23 - 2
1-232596880-CCA-C c.2846_2847del p.V949Gfs*19 Frameshift 10/23 - 2
1-232596889-C-T c.2839G>A p.E947K Missense 10/23 - 5
1-232596890-G-A c.2838C>T p.C946= Synonymous 10/23 - 4
1-232596895-C-T c.2833G>A p.G945S Missense 10/23 - 1
1-232596897-C-T c.2831G>A p.R944K Missense 10/23 - 4
1-232596905-T-G c.2823A>C p.I941= Synonymous 10/23 - 1
1-232597084-A-C c.2821-177T>G - IntronicSNV - 9/22 2
1-232597084-A-G c.2821-177T>C - IntronicSNV - 9/22 2
1-232597527-C-G c.2821-620G>C - IntronicSNV - 9/22 1
1-232597629-C-G c.2821-722G>C - IntronicSNV - 9/22 1
1-232597629-C-T c.2821-722G>A - IntronicSNV - 9/22 1
1-232597919-C-T c.2821-1012G>A - IntronicSNV - 9/22 2
1-232597940-G-A c.2821-1033C>T - IntronicSNV - 9/22 1
1-232597987-T-A c.2821-1080A>T - IntronicSNV - 9/22 4
1-232597987-T-C c.2821-1080A>G - IntronicSNV - 9/22 4
1-232598385-T-C c.2821-1478A>G - IntronicSNV - 9/22 1
1-232598503-T-G c.2821-1596A>C - IntronicSNV - 9/22 1
1-232598925-C-T c.2820+1661G>A - IntronicSNV - 9/22 1
1-232599049-C-A c.2820+1537G>T - IntronicSNV - 9/22 1
1-232599189-C-T c.2820+1397G>A - IntronicSNV - 9/22 1
1-232599226-C-T c.2820+1360G>A - IntronicSNV - 9/22 1
1-232599550-G-C c.2820+1036C>G - IntronicSNV - 9/22 1
1-232600403-C-T c.2820+183G>A - IntronicSNV - 9/22 2
1-232600588-C-A c.2818G>T p.V940L Missense 9/23 - 2
1-232600588-C-G c.2818G>C p.V940L Missense 9/23 - 3
1-232600588-C-T c.2818G>A p.V940I Missense 9/23 - 1
1-232600593-C-T c.2813G>A p.R938Q Missense 9/23 - 1
1-232600606-C-T c.2800G>A p.E934K Missense 9/23 - 2
1-232600607-C-A c.2799G>T p.R933S Missense 9/23 - 1
1-232600607-C-G c.2799G>C p.R933S Missense 9/23 - 1
1-232600608-C-T c.2798G>A p.R933K Missense 9/23 - 2
1-232600610-G-A c.2796C>T p.I932= Synonymous 9/23 - 2
1-232600616-T-A c.2790A>T p.E930D Missense 9/23 - 1
1-232600619-A-C c.2787T>G p.A929= Synonymous 9/23 - 1
1-232600619-A-G c.2787T>C p.A929= Synonymous 9/23 - 1
1-232600619-A-T c.2787T>A p.A929= Synonymous 9/23 - 1
1-232600633-C-A c.2773G>T p.V925L Missense 9/23 - 1
1-232600634-C-A c.2772G>T p.S924= Synonymous 9/23 - 2
1-232600638-G-A c.2768C>T p.S923F Missense 9/23 - 1
1-232600645-G-T c.2761C>A p.L921I Missense 9/23 - 1
1-232600652-T-A c.2754A>T p.E918D Missense 9/23 - 1
1-232600652-T-G c.2754A>C p.E918D Missense 9/23 - 1
1-232600659-C-G c.2747G>C p.R916T Missense 9/23 - 1
1-232600661-T-A c.2745A>T p.E915D Missense 9/23 - 1
1-232600661-T-G c.2745A>C p.E915D Missense 9/23 - 1
1-232600663-C-T c.2743G>A p.E915K Missense 9/23 - 2
1-232600667-A-C c.2739T>G p.F913L Missense 9/23 - 2
1-232600667-A-T c.2739T>A p.F913L Missense 9/23 - 1
1-232600669-A-G c.2737T>C p.F913L Missense 9/23 - 1
1-232600674-T-C c.2732A>G p.K911R Missense 9/23 - 1
1-232600684-C-A c.2722G>T p.V908L Missense 9/23 - 1
1-232600684-C-G c.2722G>C p.V908L Missense 9/23 - 1
1-232600688-T-A c.2718A>T p.G906= Synonymous 9/23 - 1
1-232600688-T-C c.2718A>G p.G906= Synonymous 9/23 - 1
1-232600688-T-G c.2718A>C p.G906= Synonymous 9/23 - 1
1-232600689-C-A c.2717G>T p.G906V Missense 9/23 - 1
1-232600692-G-A c.2714C>T p.S905F Missense 9/23 - 1
1-232600692-G-C c.2714C>G p.S905C Missense 9/23 - 1
1-232600694-T-C c.2712A>G p.T904= Synonymous 9/23 - 2
1-232600700-C-T c.2706G>A p.G902= Synonymous 9/23 - 1
1-232600702-C-T c.2704G>A p.G902R Missense 9/23 - 1
1-232600705-T-C c.2701A>G p.I901V Missense 9/23 - 1
1-232600710-T-C c.2696A>G p.D899G Missense 9/23 - 1
1-232600712-C-A c.2694G>T p.R898S Missense 9/23 - 1
1-232600716-C-A c.2690G>T p.C897F Missense 9/23 - 1
1-232600719-G-A c.2687C>T p.S896F Missense 9/23 - 3
1-232600725-T-G c.2681A>C p.N894T Missense 9/23 - 1
1-232600730-TAC-CAT c.2674_2676delinsATG p.V892M Missense 9/23 - 1
1-232600742-G-A c.2664C>T p.S888= Synonymous 9/23 - 2
1-232600762-T-C c.2644A>G p.M882V Missense 9/23 - 1
1-232600766-G-A c.2640C>T p.F880= Synonymous 9/23 - 1
1-232600766-G-C c.2640C>G p.F880L Missense 9/23 - 1
1-232600766-G-T c.2640C>A p.F880L Missense 9/23 - 1
1-232600768-A-G c.2638T>C p.F880L Missense 9/23 - 1
1-232600771-C-A c.2635G>T p.E879* Nonsense 9/23 - 1
1-232600771-C-T c.2635G>A p.E879K Missense 9/23 - 1
1-232600773-T-C c.2633A>G p.N878S Missense 9/23 - 1
1-232600775-G-A c.2631C>T p.S877= Synonymous 9/23 - 2
1-232600782-C-A c.2624G>T p.G875V Missense 9/23 - 3
1-232600783-C-G c.2623G>C p.G875R Missense 9/23 - 1
1-232600783-C-T c.2623G>A p.G875R Missense 9/23 - 2
1-232600788-A-C c.2618T>G p.L873R Missense 9/23 - 1
1-232600793-T-C c.2613A>G p.E871= Synonymous 9/23 - 1
1-232600795-C-G c.2611G>C p.E871Q Missense 9/23 - 1
1-232600804-C-T c.2602G>A p.A868T Missense 9/23 - 2
1-232600806-G-C c.2600C>G p.S867C Missense 9/23 - 1
1-232600813-C-A c.2593G>T p.G865C Missense 9/23 - 4
1-232600813-C-T c.2593G>A p.G865S Missense 9/23 - 1
1-232600814-G-A c.2592C>T p.F864= Synonymous 9/23 - 4
1-232600814-G-C c.2592C>G p.F864L Missense 9/23 - 2
1-232600814-G-T c.2592C>A p.F864L Missense 9/23 - 1
1-232600816-A-G c.2590T>C p.F864L Missense 9/23 - 1
1-232600818-T-G c.2588A>C p.D863A Missense 9/23 - 1
1-232600819-C-A c.2587G>T p.D863Y Missense 9/23 - 1
1-232600824-G-C c.2582C>G p.A861G Missense 9/23 - 1
1-232600826-T-C c.2580A>G p.I860M Missense 9/23 - 1
1-232600828-T-A c.2578A>T p.I860L Missense 9/23 - 1
1-232600828-T-C c.2578A>G p.I860V Missense 9/23 - 1
1-232600828-T-G c.2578A>C p.I860L Missense 9/23 - 1
1-232600829-C-G c.2577G>C p.V859= Synonymous 9/23 - 2
1-232600832-G-A c.2574C>T p.H858= Synonymous 9/23 - 4
1-232600835-C-T c.2571G>A p.W857* Nonsense 9/23 - 1
1-232600836-C-T c.2570G>A p.W857* Nonsense 9/23 - 1
1-232600841-G-A c.2565C>T p.I855= Synonymous 9/23 - 1
1-232600841-G-T c.2565C>A p.I855= Synonymous 9/23 - 1
1-232600845-GC-G c.2560del p.A854Pfs*6 Frameshift 9/23 - 1
1-232600849-C-A c.2557G>T p.G853W Missense 9/23 - 1
1-232600861-A-T c.2545T>A p.L849M Missense 9/23 - 2
1-232600863-T-G c.2543A>C p.H848P Missense 9/23 - 1
1-232600867-C-A c.2539G>T p.A847S Missense 9/23 - 1
1-232600867-C-T c.2539G>A p.A847T Missense 9/23 - 3
1-232600880-C-A c.2526G>T p.K842N Missense 9/23 - 1
1-232600880-C-G c.2526G>C p.K842N Missense 9/23 - 1
1-232600885-C-T c.2521G>A p.V841I Missense 9/23 - 1
1-232600887-T-A c.2519A>T p.K840M Missense 9/23 - 5
1-232600887-T-C c.2519A>G p.K840R Missense 9/23 - 1
1-232600891-C-G c.2515G>C p.E839Q Missense 9/23 - 2
1-232600891-C-T c.2515G>A p.E839K Missense 9/23 - 1
1-232600892-CT-C c.2513del p.K838Rfs*4 Frameshift 9/23 - 1
1-232600897-T-C c.2509A>G p.K837E Missense 9/23 - 1
1-232600901-C-T c.2505G>A p.A835= Synonymous 9/23 - 1
1-232600902-G-A c.2504C>T p.A835V Missense 9/23 - 1
1-232600907-C-A c.2499G>T p.L833= Synonymous 9/23 - 3
1-232600907-C-G c.2499G>C p.L833= Synonymous 9/23 - 1
1-232600907-C-T c.2499G>A p.L833= Synonymous 9/23 - 1
1-232600909-G-A c.2497C>T p.L833= Synonymous 9/23 - 1
1-232600911-G-A c.2495C>T p.T832M Missense 9/23 - 2
1-232600916-G-A c.2490C>T p.F830= Synonymous 9/23 - 3
1-232600917-A-G c.2489T>C p.F830S Missense 9/23 - 1
1-232600916-G-C c.2490C>G p.F830L Missense 9/23 - 1
1-232600916-G-T c.2490C>A p.F830L Missense 9/23 - 1
1-232600918-A-G c.2488T>C p.F830L Missense 9/23 - 2
1-232600929-A-G c.2477T>C p.V826A Missense 9/23 - 1
1-232600939-C-T c.2467G>A p.D823N Missense 9/23 - 1
1-232600942-C-T c.2464G>A p.V822M Missense 9/23 - 3
1-232600943-G-A c.2463C>T p.T821= Synonymous 9/23 - 1
1-232600949-G-A c.2457C>T p.T819= Synonymous 9/23 - 1
1-232600949-G-C c.2457C>G p.T819= Synonymous 9/23 - 1
1-232600949-G-T c.2457C>A p.T819= Synonymous 9/23 - 1
1-232600958-AAAGTTCTCCGCCAGATCTTTC-A c.2427_2447del p.L809_N815del InFrameDeletion 9/23 - 1
1-232600963-T-C c.2443A>G p.N815D Missense 9/23 - 2
1-232600967-C-T c.2439G>A p.A813= Synonymous 9/23 - 2
1-232600968-G-A c.2438C>T p.A813V Missense 9/23 - 3
1-232600970-C-A c.2436G>T p.L812= Synonymous 9/23 - 1
1-232600970-C-G c.2436G>C p.L812= Synonymous 9/23 - 1
1-232600970-C-T c.2436G>A p.L812= Synonymous 9/23 - 1
1-232600972-G-A c.2434C>T p.L812= Synonymous 9/23 - 1
1-232600974-T-C c.2432A>G p.D811G Missense 9/23 - 1
1-232600985-C-G c.2421G>C p.E807D Missense 9/23 - 1
1-232600987-C-G c.2419G>C p.E807Q Missense 9/23 - 1
1-232600990-GC-G c.2415del p.R805Sfs*5 Frameshift 9/23 - 1
1-232600994-C-A c.2412G>T p.T804= Synonymous 9/23 - 2
1-232600994-C-G c.2412G>C p.T804= Synonymous 9/23 - 2
1-232600994-C-T c.2412G>A p.T804= Synonymous 9/23 - 3
1-232600995-G-A c.2411C>T p.T804M Missense 9/23 - 1
1-232601006-C-A c.2400G>T p.M800I Missense 9/23 - 1
1-232601006-C-G c.2400G>C p.M800I Missense 9/23 - 1
1-232601006-C-T c.2400G>A p.M800I Missense 9/23 - 1
1-232601010-G-A c.2396C>T p.A799V Missense 9/23 - 1
1-232601013-C-A c.2393G>T p.R798L Missense 9/23 - 2
1-232601013-C-T c.2393G>A p.R798Q Missense 9/23 - 1
1-232601012-T-A c.2394A>T p.R798= Synonymous 9/23 - 1
1-232601012-T-C c.2394A>G p.R798= Synonymous 9/23 - 1
1-232601012-T-G c.2394A>C p.R798= Synonymous 9/23 - 1
1-232601014-G-A c.2392C>T p.R798* Nonsense 9/23 - 5
1-232601014-G-T c.2392C>A p.R798= Synonymous 9/23 - 1
1-232601021-T-A c.2385A>T p.E795D Missense 9/23 - 1
1-232601021-T-G c.2385A>C p.E795D Missense 9/23 - 1
1-232601023-C-A c.2383G>T p.E795* Nonsense 9/23 - 4
1-232601031-T-G c.2375A>C p.H792P Missense 9/23 - 1
1-232601032-G-T c.2374C>A p.H792N Missense 9/23 - 2
1-232601035-C-G c.2371G>C p.A791P Missense 9/23 - 1
1-232601037-G-A c.2369C>T p.A790V Missense 9/23 - 2
1-232601044-C-G c.2362G>C p.E788Q Missense 9/23 - 1
1-232601044-C-T c.2362G>A p.E788K Missense 9/23 - 1
1-232601047-C-A c.2359G>T p.A787S Missense 9/23 - 3
1-232601047-C-T c.2359G>A p.A787T Missense 9/23 - 2
1-232601049-T-A c.2357A>T p.N786I Missense 9/23 - 1
1-232601052-A-T c.2354T>A p.I785N Missense 9/23 - 4
1-232601059-T-C c.2347A>G p.K783E Missense 9/23 - 1
1-232601064-A-C c.2342T>G p.L781* Nonsense 9/23 - 1
1-232601066-AAG-CAT c.2338_2340delinsATG p.L780M Missense 9/23 - 1
1-232601069-G-A c.2337C>T p.F779= Synonymous 9/23 - 1
1-232601071-A-C c.2335T>G p.F779V Missense 9/23 - 1
1-232601072-G-A c.2334C>T p.D778= Synonymous 9/23 - 2
1-232601073-T-A c.2333A>T p.D778V Missense 9/23 - 3
1-232601074-C-A c.2332G>T p.D778Y Missense 9/23 - 3
1-232601076-C-T c.2330G>A p.R777Q Missense 9/23 - 4
1-232601075-C-A c.2331G>T p.R777= Synonymous 9/23 - 1
1-232601075-C-G c.2331G>C p.R777= Synonymous 9/23 - 1
1-232601075-C-T c.2331G>A p.R777= Synonymous 9/23 - 1
1-232601077-G-A c.2329C>T p.R777W Missense 9/23 - 3
1-232601077-G-T c.2329C>A p.R777= Synonymous 9/23 - 1
1-232601088-G-T c.2318C>A p.S773* Nonsense 9/23 - 1
1-232601096-A-C c.2310T>G p.F770L Missense 9/23 - 1
1-232601096-A-T c.2310T>A p.F770L Missense 9/23 - 1
1-232601098-A-G c.2308T>C p.F770L Missense 9/23 - 1
1-232601107-C-A c.2299G>T p.G767C Missense 9/23 - 1
1-232601113-G-A c.2293C>T p.P765S Missense 9/23 - 4
1-232601117-C-G c.2289G>C p.P763= Synonymous 9/23 - 1
1-232601117-C-T c.2289G>A p.P763= Synonymous 9/23 - 2
1-232601118-G-A c.2288C>T p.P763L Missense 9/23 - 5
1-232601128-A-G c.2278T>C p.F760L Missense 9/23 - 1
1-232601130-G-A c.2276C>T p.P759L Missense 9/23 - 2
1-232601134-G-C c.2272C>G p.P758A Missense 9/23 - 1
1-232601148-C-T c.2258G>A p.R753K Missense 9/23 - 1
1-232601170-A-G c.2244-8T>C - IntronicSNV - 8/22 1
1-232601208-A-G c.2244-46T>C - IntronicSNV - 8/22 7
1-232601239-T-C c.2244-77A>G - IntronicSNV - 8/22 1
1-232601241-T-C c.2244-79A>G - IntronicSNV - 8/22 3
1-232601291-C-T c.2244-129G>A - IntronicSNV - 8/22 3
1-232601355-C-G c.2244-193G>C - IntronicSNV - 8/22 2
1-232603970-A-T c.2244-2808T>A - IntronicSNV - 8/22 1
1-232606283-G-A c.2243+834C>T - IntronicSNV - 8/22 1
1-232606593-G-C c.2243+524C>G - IntronicSNV - 8/22 1
1-232606993-GTGTC-G c.2243+120_2243+123del - IntronicDeletion - 8/22 3
1-232607050-T-A c.2243+67A>T - IntronicSNV - 8/22 4
1-232607065-G-A c.2243+52C>T - IntronicSNV - 8/22 4
1-232607094-T-C c.2243+23A>G - IntronicSNV - 8/22 5
1-232607123-C-G c.2237G>C p.C746S Missense 8/23 - 1
1-232607127-C-A c.2233G>T p.V745L Missense 8/23 - 1
1-232607127-C-G c.2233G>C p.V745L Missense 8/23 - 1
1-232607131-T-C c.2229A>G p.E743= Synonymous 8/23 - 1
1-232607133-C-T c.2227G>A p.E743K Missense 8/23 - 2
1-232607134-G-A c.2226C>T p.T742= Synonymous 8/23 - 3
1-232607134-G-C c.2226C>G p.T742= Synonymous 8/23 - 4
1-232607134-GG-CT c.2225_2226delinsAG p.T742K Missense 8/23 - 1
1-232607134-G-T c.2226C>A p.T742= Synonymous 8/23 - 2
1-232607141-G-T c.2219C>A p.P740Q Missense 8/23 - 5
1-232607142-G-A c.2218C>T p.P740S Missense 8/23 - 1
1-232607147-T-C c.2213A>G p.H738R Missense 8/23 - 1
1-232607149-C-T c.2211G>A p.V737= Synonymous 8/23 - 1
1-232607184-A-G c.2176T>C p.S726P Missense 8/23 - 1
1-232607185-C-A c.2175G>T p.R725= Synonymous 8/23 - 1
1-232607186-C-A c.2174G>T p.R725L Missense 8/23 - 2
1-232607186-C-T c.2174G>A p.R725Q Missense 8/23 - 2
1-232607188-G-A c.2172C>T p.I724= Synonymous 8/23 - 1
1-232607192-C-T c.2168G>A p.S723N Missense 8/23 - 2
1-232607193-T-A c.2167A>T p.S723C Missense 8/23 - 1
1-232607201-G-A c.2159C>T p.T720I Missense 8/23 - 1
1-232607201-G-GT c.2158dup p.T720Nfs*20 Frameshift 8/23 - 1
1-232607204-A-C c.2156T>G p.F719C Missense 8/23 - 1
1-232607205-A-C c.2155T>G p.F719V Missense 8/23 - 1
1-232607207-G-A c.2153C>T p.P718L Missense 8/23 - 5
1-232607212-T-A c.2148A>T p.A716= Synonymous 8/23 - 2
1-232607212-T-C c.2148A>G p.A716= Synonymous 8/23 - 1
1-232607212-T-G c.2148A>C p.A716= Synonymous 8/23 - 1
1-232607217-C-G c.2143G>C p.G715R Missense 8/23 - 1
1-232607217-C-T c.2143G>A p.G715R Missense 8/23 - 2
1-232607219-G-A c.2141C>T p.P714L Missense 8/23 - 1
1-232607219-G-T c.2141C>A p.P714H Missense 8/23 - 3
1-232607220-G-A c.2140C>T p.P714S Missense 8/23 - 3
1-232607220-G-C c.2140C>G p.P714A Missense 8/23 - 1
1-232607220-G-T c.2140C>A p.P714T Missense 8/23 - 1
1-232607226-G-T c.2134C>A p.Q712K Missense 8/23 - 1
1-232607229-A-T c.2131T>A p.F711I Missense 8/23 - 1
1-232607231-A-G c.2129T>C p.V710A Missense 8/23 - 1
1-232607231-A-T c.2129T>A p.V710D Missense 8/23 - 1
1-232607232-C-T c.2128G>A p.V710I Missense 8/23 - 3
1-232607233-G-A c.2127C>T p.I709= Synonymous 8/23 - 1
1-232607233-G-T c.2127C>A p.I709= Synonymous 8/23 - 1
1-232607241-C-T c.2119G>A p.V707I Missense 8/23 - 1
1-232607242-G-A c.2118C>T p.I706= Synonymous 8/23 - 2
1-232607242-G-T c.2118C>A p.I706= Synonymous 8/23 - 2
1-232607243-A-C c.2117T>G p.I706S Missense 8/23 - 3
1-232607246-T-A c.2114A>T p.D705V Missense 8/23 - 2
1-232607247-C-T c.2113G>A p.D705N Missense 8/23 - 1
1-232607249-T-C c.2111A>G p.N704S Missense 8/23 - 5
1-232607252-C-A c.2108G>T p.G703V Missense 8/23 - 1
1-232607252-C-T c.2108G>A p.G703E Missense 8/23 - 1
1-232607260-C-T c.2100G>A p.R700= Synonymous 8/23 - 2
1-232607262-T-G c.2098A>C p.R700= Synonymous 8/23 - 1
1-232607267-C-T c.2093G>A p.R698K Missense 8/23 - 1
1-232607269-C-A c.2091G>T p.L697= Synonymous 8/23 - 1
1-232607269-C-G c.2091G>C p.L697= Synonymous 8/23 - 1
1-232607269-C-T c.2091G>A p.L697= Synonymous 8/23 - 1
1-232607271-G-A c.2089C>T p.L697= Synonymous 8/23 - 1
1-232607274-G-A c.2086C>T p.L696= Synonymous 8/23 - 1
1-232608616-A-G c.2086-1342T>C - IntronicSNV - 7/22 1
1-232610508-A-T c.2086-3234T>A - IntronicSNV - 7/22 1
1-232611404-G-C c.2085+3969C>G - IntronicSNV - 7/22 1
1-232615374-T-C c.2084A>G p.Q695R Missense 7/23 - 1
1-232615375-G-T c.2083C>A p.Q695K Missense 7/23 - 1
1-232615381-T-A c.2077A>T p.R693* Nonsense 7/23 - 1
1-232615390-G-A c.2068C>T p.P690S Missense 7/23 - 1
1-232615398-G-A c.2060C>T p.P687L Missense 7/23 - 3
1-232615399-G-A c.2059C>T p.P687S Missense 7/23 - 3
1-232615408-T-C c.2050A>G p.T684A Missense 7/23 - 1
1-232615414-C-T c.2044G>A p.V682M Missense 7/23 - 1
1-232615415-G-A c.2043C>T p.H681= Synonymous 7/23 - 2
1-232615415-G-T c.2043C>A p.H681Q Missense 7/23 - 1
1-232615418-G-A c.2040C>T p.F680= Synonymous 7/23 - 3
1-232615423-T-C c.2035A>G p.M679V Missense 7/23 - 2
1-232615429-C-T c.2029G>A p.E677K Missense 7/23 - 9
1-232615430-G-A c.2028C>T p.Y676= Synonymous 7/23 - 1
1-232615432-A-T c.2026T>A p.Y676N Missense 7/23 - 1
1-232615435-C-A c.2023G>T p.D675Y Missense 7/23 - 1
1-232615440-T-A c.2018A>T p.Y673F Missense 7/23 - 1
1-232615440-T-C c.2018A>G p.Y673C Missense 7/23 - 2
1-232615446-GGT-G c.2011_2012del p.T671Hfs*34 Frameshift 7/23 - 2
1-232615447-T-C c.2011A>G p.T671A Missense 7/23 - 9
1-232615457-G-A c.2001C>T p.H667= Synonymous 7/23 - 1
1-232615458-T-A c.2000A>T p.H667L Missense 7/23 - 1
1-232615458-T-C c.2000A>G p.H667R Missense 7/23 - 1
1-232615459-G-A c.1999C>T p.H667Y Missense 7/23 - 1
1-232615460-C-A c.1998G>T p.T666= Synonymous 7/23 - 2
1-232615460-C-G c.1998G>C p.T666= Synonymous 7/23 - 1
1-232615460-C-T c.1998G>A p.T666= Synonymous 7/23 - 4
1-232615461-G-T c.1997C>A p.T666K Missense 7/23 - 1
1-232615463-GC-CT c.1994_1995delinsAG p.G665E Missense 7/23 - 1
1-232615465-C-A c.1993G>T p.G665C Missense 7/23 - 1
1-232615466-C-A c.1992G>T p.T664= Synonymous 7/23 - 1
1-232615466-C-G c.1992G>C p.T664= Synonymous 7/23 - 1
1-232615466-C-T c.1992G>A p.T664= Synonymous 7/23 - 1
1-232615467-G-A c.1991C>T p.T664M Missense 7/23 - 2
1-232615467-G-T c.1991C>A p.T664K Missense 7/23 - 1
1-232615468-T-C c.1990A>G p.T664A Missense 7/23 - 1
1-232615472-A-C c.1986T>G p.D662E Missense 7/23 - 1
1-232615472-A-T c.1986T>A p.D662E Missense 7/23 - 1
1-232615474-C-T c.1984G>A p.D662N Missense 7/23 - 2
1-232615792-G-A c.1982-316C>T - IntronicSNV - 6/22 1
1-232618615-C-T c.1981+923G>A - IntronicSNV - 6/22 1
1-232618974-T-C c.1981+564A>G - IntronicSNV - 6/22 1
1-232619538-T-A c.1981A>T p.T661S Missense 6/23 - 2
1-232619540-T-C c.1979A>G p.K660R Missense 6/23 - 1
1-232619545-G-C c.1974C>G p.D658E Missense 6/23 - 1
1-232619545-G-T c.1974C>A p.D658E Missense 6/23 - 1
1-232619552-T-G c.1967A>C p.Q656P Missense 6/23 - 1
1-232619553-G-C c.1966C>G p.Q656E Missense 6/23 - 1
1-232619556-C-T c.1963G>A p.A655T Missense 6/23 - 1
1-232619559-G-A c.1960C>T p.R654* Nonsense 6/23 - 4
1-232619564-T-G c.1955A>C p.K652T Missense 6/23 - 1
1-232619566-A-C c.1953T>G p.S651R Missense 6/23 - 1
1-232619566-A-T c.1953T>A p.S651R Missense 6/23 - 1
1-232619568-T-G c.1951A>C p.S651R Missense 6/23 - 1
1-232619570-A-C c.1949T>G p.F650C Missense 6/23 - 3
1-232619571-A-C c.1948T>G p.F650V Missense 6/23 - 1
1-232619573-C-A c.1946G>T p.G649V Missense 6/23 - 1
1-232619573-CC-TT c.1945_1946delinsAA p.G649K Missense 6/23 - 1
1-232619573-C-T c.1946G>A p.G649E Missense 6/23 - 1
1-232619574-C-G c.1945G>C p.G649R Missense 6/23 - 1
1-232619575-TT-CA c.1943_1944delinsTG p.K648M Missense 6/23 - 1
1-232619580-G-A c.1939C>T p.L647= Synonymous 6/23 - 1
1-232619581-TC-AT c.1937_1938delinsAT p.R646H Missense 6/23 - 1
1-232619583-G-A c.1936C>T p.R646* Nonsense 6/23 - 1
1-232619587-T-C c.1932A>G p.R644= Synonymous 6/23 - 2
1-232619589-T-G c.1930A>C p.R644= Synonymous 6/23 - 1
1-232619588-C-T c.1931G>A p.R644K Missense 6/23 - 1
1-232619588-CT-TG c.1930_1931delinsCA p.R644Q Missense 6/23 - 1
1-232619592-G-A c.1927C>T p.Q643* Nonsense 6/23 - 1
1-232619593-GC-CT c.1925_1926delinsAG p.G642E Missense 6/23 - 1
1-232619595-C-A c.1924G>T p.G642C Missense 6/23 - 2
1-232619595-C-G c.1924G>C p.G642R Missense 6/23 - 1
1-232619595-C-T c.1924G>A p.G642S Missense 6/23 - 1
1-232619597-AG-GC c.1921_1922delinsGC p.L641A Missense 6/23 - 1
1-232619600-A-C c.1919T>G p.L640R Missense 6/23 - 3
1-232619600-AGATCAAGGAATTCTTCAAAAGCTG-A c.1895_1918del p.P632_D639del InFrameDeletion 6/23 - 1
1-232619603-T-C c.1916A>G p.D639G Missense 6/23 - 1
1-232619607-G-T c.1912C>A p.L638I Missense 6/23 - 2
1-232619609-A-C c.1910T>G p.F637C Missense 6/23 - 1
1-232619613-C-A c.1906G>T p.E636* Nonsense 6/23 - 1
1-232619616-C-T c.1903G>A p.E635K Missense 6/23 - 1
1-232619617-A-C c.1902T>G p.F634L Missense 6/23 - 1
1-232619617-A-T c.1902T>A p.F634L Missense 6/23 - 1
1-232619619-A-G c.1900T>C p.F634L Missense 6/23 - 1
1-232619620-A-C c.1899T>G p.A633= Synonymous 6/23 - 1
1-232619620-A-G c.1899T>C p.A633= Synonymous 6/23 - 1
1-232619620-A-T c.1899T>A p.A633= Synonymous 6/23 - 1
1-232619621-G-A c.1898C>T p.A633V Missense 6/23 - 1
1-232619621-GC-AG c.1897_1898delinsCT p.A633L Missense 6/23 - 1
1-232619623-CT-C c.1896del p.A633Lfs*15 Frameshift 6/23 - 1
1-232619624-G-C c.1895C>G p.P632R Missense 6/23 - 1
1-232619624-G-T c.1895C>A p.P632Q Missense 6/23 - 1
1-232619625-G-A c.1894C>T p.P632S Missense 6/23 - 3
1-232619625-G-C c.1894C>G p.P632A Missense 6/23 - 1
1-232619626-TC-GT c.1892_1893delinsAC p.G631D Missense 6/23 - 1
1-232619629-C-T c.1890G>A p.A630= Synonymous 6/23 - 2
1-232619630-G-A c.1889C>T p.A630V Missense 6/23 - 1
1-232619630-G-C c.1889C>G p.A630G Missense 6/23 - 1
1-232619631-C-T c.1888G>A p.A630T Missense 6/23 - 1
1-232619633-G-A c.1886C>T p.T629M Missense 6/23 - 8
1-232619633-G-C c.1886C>G p.T629R Missense 6/23 - 2
1-232619633-G-GTT c.1885_1886insAA p.T629Kfs*20 Frameshift 6/23 - 2
1-232619633-G-GTCA c.1885_1886insTGA p.E628_T629insM InFrameInsertion 6/23 - 1
1-232619635-C-T c.1884G>A p.E628= Synonymous 6/23 - 1
1-232619639-T-C c.1880A>G p.N627S Missense 6/23 - 3
1-232619647-C-A c.1872G>T p.M624I Missense 6/23 - 1
1-232619647-C-G c.1872G>C p.M624I Missense 6/23 - 1
1-232619647-C-T c.1872G>A p.M624I Missense 6/23 - 1
1-232619649-T-C c.1870A>G p.M624V Missense 6/23 - 1
1-232619650-C-A c.1869G>T p.E623D Missense 6/23 - 1
1-232619657-T-C c.1862A>G p.E621G Missense 6/23 - 2
1-232619658-C-G c.1861G>C p.E621Q Missense 6/23 - 2
1-232619659-T-C c.1860A>G p.T620= Synonymous 6/23 - 1
1-232619668-G-A c.1851C>T p.G617= Synonymous 6/23 - 1
1-232619668-G-C c.1851C>G p.G617= Synonymous 6/23 - 1
1-232619668-G-T c.1851C>A p.G617= Synonymous 6/23 - 3
1-232619670-C-A c.1849G>T p.G617C Missense 6/23 - 5
1-232619683-A-C c.1836T>G p.L612= Synonymous 6/23 - 1
1-232619690-C-A c.1829G>T p.G610V Missense 6/23 - 1
1-232619695-C-T c.1824G>A p.K608= Synonymous 6/23 - 2
1-232619697-T-A c.1822A>T p.K608* Nonsense 6/23 - 1
1-232619700-G-A c.1819C>T p.H607Y Missense 6/23 - 1
1-232619701-C-A c.1818G>T p.Q606H Missense 6/23 - 1
1-232619701-C-G c.1818G>C p.Q606H Missense 6/23 - 1
1-232619710-C-A c.1809G>T p.L603= Synonymous 6/23 - 1
1-232619710-C-G c.1809G>C p.L603= Synonymous 6/23 - 1
1-232619710-C-T c.1809G>A p.L603= Synonymous 6/23 - 1
1-232619712-G-A c.1807C>T p.L603= Synonymous 6/23 - 1
1-232619711-A-G c.1808T>C p.L603P Missense 6/23 - 1
1-232619711-AG-TA c.1807_1808delinsTA p.L603* Nonsense 6/23 - 2
1-232623334-T-G c.1806+3286A>C - IntronicSNV - 5/22 1
1-232623522-G-C c.1806+3098C>G - IntronicSNV - 5/22 1
1-232625553-G-A c.1806+1067C>T - IntronicSNV - 5/22 1
1-232626439-T-C c.1806+181A>G - IntronicSNV - 5/22 1
1-232626620-C-T c.1806G>A p.G602= Synonymous 5/23 - 1
1-232626621-C-G c.1805G>C p.G602A Missense 5/23 - 1
1-232626621-C-T c.1805G>A p.G602E Missense 5/23 - 1
1-232626622-C-G c.1804G>C p.G602R Missense 5/23 - 3
1-232626622-C-T c.1804G>A p.G602R Missense 5/23 - 3
1-232626634-G-A c.1792C>T p.L598F Missense 5/23 - 1
1-232626653-G-A c.1773C>T p.V591= Synonymous 5/23 - 1
1-232626653-G-C c.1773C>G p.V591= Synonymous 5/23 - 1
1-232626653-G-T c.1773C>A p.V591= Synonymous 5/23 - 1
1-232626654-A-G c.1772T>C p.V591A Missense 5/23 - 1
1-232626655-C-T c.1771G>A p.V591I Missense 5/23 - 2
1-232626658-T-A c.1768A>T p.K590* Nonsense 5/23 - 1
1-232626660-G-T c.1766C>A p.P589H Missense 5/23 - 1
1-232626661-G-A c.1765C>T p.P589S Missense 5/23 - 3
1-232626663-G-A c.1763C>T p.S588L Missense 5/23 - 3
1-232626665-G-T c.1761C>A p.N587K Missense 5/23 - 1
1-232626668-G-A c.1758C>T p.S586= Synonymous 5/23 - 1
1-232626676-G-T c.1750C>A p.Q584K Missense 5/23 - 1
1-232626677-T-C c.1749A>G p.R583= Synonymous 5/23 - 1
1-232626679-G-A c.1747C>T p.R583* Nonsense 5/23 - 11
1-232626689-A-G c.1737T>C p.I579= Synonymous 5/23 - 1
1-232626695-C-A c.1731G>T p.L577= Synonymous 5/23 - 1
1-232626695-C-G c.1731G>C p.L577= Synonymous 5/23 - 1
1-232626695-C-T c.1731G>A p.L577= Synonymous 5/23 - 1
1-232626697-G-A c.1729C>T p.L577= Synonymous 5/23 - 1
1-232626702-G-A c.1724C>T p.P575L Missense 5/23 - 6
1-232626707-G-A c.1719C>T p.V573= Synonymous 5/23 - 1
1-232626707-G-C c.1719C>G p.V573= Synonymous 5/23 - 1
1-232626709-C-T c.1717G>A p.V573I Missense 5/23 - 3
1-232626710-G-A c.1716C>T p.Y572= Synonymous 5/23 - 2
1-232626715-C-T c.1711G>A p.E571K Missense 5/23 - 2
1-232626716-C-A c.1710G>T p.L570F Missense 5/23 - 1
1-232626716-C-G c.1710G>C p.L570F Missense 5/23 - 1
1-232626721-C-A c.1705G>T p.V569F Missense 5/23 - 2
1-232626722-T-A c.1704A>T p.E568D Missense 5/23 - 1
1-232626722-T-G c.1704A>C p.E568D Missense 5/23 - 1
1-232626723-T-C c.1703A>G p.E568G Missense 5/23 - 2
1-232626724-C-A c.1702G>T p.E568* Nonsense 5/23 - 2
1-232626728-G-A c.1698C>T p.L566= Synonymous 5/23 - 1
1-232626728-G-C c.1698C>G p.L566= Synonymous 5/23 - 1
1-232626728-G-T c.1698C>A p.L566= Synonymous 5/23 - 1
1-232626730-G-A c.1696C>T p.L566F Missense 5/23 - 1
1-232626730-G-C c.1696C>G p.L566V Missense 5/23 - 4
1-232626730-G-T c.1696C>A p.L566I Missense 5/23 - 1
1-232626732-GG-AT c.1693_1694delinsAT p.P565I Missense 5/23 - 3
1-232626733-G-A c.1693C>T p.P565S Missense 5/23 - 1
1-232626734-T-C c.1692A>G p.L564= Synonymous 5/23 - 1
1-232626735-A-G c.1691T>C p.L564P Missense 5/23 - 2
1-232626739-C-A c.1687G>T p.G563* Nonsense 5/23 - 1
1-232626741-C-T c.1685G>A p.R562Q Missense 5/23 - 1
1-232626742-G-A c.1684C>T p.R562* Nonsense 5/23 - 4
1-232626745-C-T c.1681G>A p.A561T Missense 5/23 - 1
1-232626746-G-A c.1680C>T p.T560= Synonymous 5/23 - 4
1-232626746-G-C c.1680C>G p.T560= Synonymous 5/23 - 1
1-232626746-G-T c.1680C>A p.T560= Synonymous 5/23 - 1
1-232626748-T-C c.1678A>G p.T560A Missense 5/23 - 1
1-232626760-C-A c.1666G>T p.A556S Missense 5/23 - 1
1-232626760-C-T c.1666G>A p.A556T Missense 5/23 - 1
1-232626772-T-C c.1654A>G p.I552V Missense 5/23 - 2
1-232626774-G-A c.1652C>T p.A551V Missense 5/23 - 1
1-232626775-C-G c.1651G>C p.A551P Missense 5/23 - 1
1-232626779-T-G c.1647A>C p.E549D Missense 5/23 - 1
1-232626781-C-G c.1645G>C p.E549Q Missense 5/23 - 5
1-232626793-C-G c.1633G>C p.G545R Missense 5/23 - 1
1-232626793-C-T c.1633G>A p.G545R Missense 5/23 - 1
1-232626796-T-A c.1630A>T p.R544* Nonsense 5/23 - 1
1-232626797-C-A c.1629G>T p.L543= Synonymous 5/23 - 1
1-232626797-C-G c.1629G>C p.L543= Synonymous 5/23 - 1
1-232626797-C-T c.1629G>A p.L543= Synonymous 5/23 - 2
1-232626799-G-A c.1627C>T p.L543= Synonymous 5/23 - 1
1-232626799-G-T c.1627C>A p.L543M Missense 5/23 - 1
1-232626801-G-A c.1625C>T p.T542I Missense 5/23 - 1
1-232626803-T-A c.1623A>T p.T541= Synonymous 5/23 - 1
1-232626803-T-C c.1623A>G p.T541= Synonymous 5/23 - 1
1-232626803-T-G c.1623A>C p.T541= Synonymous 5/23 - 1
1-232626804-G-A c.1622C>T p.T541I Missense 5/23 - 1
1-232629171-A-T c.1617+102T>A - IntronicSNV - 4/22 2
1-232629170-TA-T c.1617+102del - IntronicDeletion - 4/22 2
1-232629254-C-T c.1617+19G>A - IntronicSNV - 4/22 1
1-232629283-CT-TG c.1606_1607delinsCA p.R536Q Missense 4/23 - 1
1-232629302-T-C c.1588A>G p.N530D Missense 4/23 - 1
1-232629306-C-A c.1584G>T p.Q528H Missense 4/23 - 2
1-232629306-C-G c.1584G>C p.Q528H Missense 4/23 - 1
1-232629308-G-T c.1582C>A p.Q528K Missense 4/23 - 1
1-232629309-G-A c.1581C>T p.S527= Synonymous 4/23 - 2
1-232629323-C-A c.1567G>T p.E523* Nonsense 4/23 - 1
1-232629323-C-T c.1567G>A p.E523K Missense 4/23 - 1
1-232629335-C-A c.1555G>T p.E519* Nonsense 4/23 - 2
1-232629336-C-A c.1554G>T p.V518= Synonymous 4/23 - 2
1-232629337-A-G c.1553T>C p.V518A Missense 4/23 - 1
1-232629340-T-C c.1550A>G p.K517R Missense 4/23 - 1
1-232629341-T-TA c.1548_1549insT p.K517* Nonsense 4/23 - 1
1-232629342-C-T c.1548G>A p.E516= Synonymous 4/23 - 1
1-232629344-C-T c.1546G>A p.E516K Missense 4/23 - 1
1-232629349-C-T c.1541G>A p.R514Q Missense 4/23 - 1
1-232629348-C-A c.1542G>T p.R514= Synonymous 4/23 - 1
1-232629348-C-G c.1542G>C p.R514= Synonymous 4/23 - 1
1-232629348-C-T c.1542G>A p.R514= Synonymous 4/23 - 2
1-232629350-G-A c.1540C>T p.R514W Missense 4/23 - 3
1-232629350-G-T c.1540C>A p.R514= Synonymous 4/23 - 1
1-232629351-G-A c.1539C>T p.I513= Synonymous 4/23 - 1
1-232629353-T-A c.1537A>T p.I513F Missense 4/23 - 1
1-232629353-T-C c.1537A>G p.I513V Missense 4/23 - 1
1-232629364-A-G c.1526T>C p.V509A Missense 4/23 - 3
1-232629365-C-T c.1525G>A p.V509I Missense 4/23 - 1
1-232629366-T-A c.1524A>T p.P508= Synonymous 4/23 - 1
1-232629366-T-C c.1524A>G p.P508= Synonymous 4/23 - 1
1-232629366-T-G c.1524A>C p.P508= Synonymous 4/23 - 1
1-232629367-G-A c.1523C>T p.P508L Missense 4/23 - 6
1-232629374-G-A c.1516C>T p.L506F Missense 4/23 - 1
1-232629374-G-T c.1516C>A p.L506I Missense 4/23 - 1
1-232629380-C-T c.1510G>A p.E504K Missense 4/23 - 6
1-232629383-C-G c.1507G>C p.D503H Missense 4/23 - 1
1-232629388-C-T c.1502G>A p.G501E Missense 4/23 - 1
1-232629393-G-T c.1497C>A p.Y499* Nonsense 4/23 - 1
1-232629400-T-C c.1490A>G p.Q497R Missense 4/23 - 1
1-232629405-C-T c.1485G>A p.E495= Synonymous 4/23 - 1
1-232629475-C-T c.1484-69G>A - IntronicSNV - 3/22 5
1-232639262-T-A c.1484-9856A>T - IntronicSNV - 3/22 1
1-232640919-C-T c.1483+8684G>A - IntronicSNV - 3/22 1
1-232645802-G-A c.1483+3801C>T - IntronicSNV - 3/22 1
1-232649603-C-A c.1483G>T p.E495* Nonsense 3/23 - 2
1-232649604-T-G c.1482A>C p.K494N Missense 3/23 - 1
1-232649605-T-C c.1481A>G p.K494R Missense 3/23 - 1
1-232649613-G-A c.1473C>T p.F491= Synonymous 3/23 - 1
1-232649613-G-C c.1473C>G p.F491L Missense 3/23 - 1
1-232649613-G-T c.1473C>A p.F491L Missense 3/23 - 1
1-232649615-A-G c.1471T>C p.F491L Missense 3/23 - 1
1-232649618-A-T c.1468T>A p.F490I Missense 3/23 - 2
1-232649620-T-C c.1466A>G p.K489R Missense 3/23 - 1
1-232649623-C-T c.1463G>A p.R488H Missense 3/23 - 7
1-232649624-G-A c.1462C>T p.R488C Missense 3/23 - 1
1-232649629-T-G c.1457A>C p.Y486S Missense 3/23 - 1
1-232649633-A-G c.1453T>C p.Y485H Missense 3/23 - 1
1-232649634-G-A c.1452C>T p.A484= Synonymous 3/23 - 1
1-232649637-C-A c.1449G>T p.G483= Synonymous 3/23 - 1
1-232649638-C-A c.1448G>T p.G483V Missense 3/23 - 2
1-232649643-G-A c.1443C>T p.D481= Synonymous 3/23 - 2
1-232649660-T-C c.1426A>G p.I476V Missense 3/23 - 1
1-232649661-G-A c.1425C>T p.Y475= Synonymous 3/23 - 1
1-232649662-T-C c.1424A>G p.Y475C Missense 3/23 - 3
1-232649665-C-T c.1421G>A p.R474H Missense 3/23 - 3
1-232649666-G-A c.1420C>T p.R474C Missense 3/23 - 2
1-232649668-T-C c.1418A>G p.K473R Missense 3/23 - 1
1-232649672-C-G c.1414G>C p.V472L Missense 3/23 - 1
1-232649673-T-A c.1413A>T p.K471N Missense 3/23 - 1
1-232649678-C-A c.1408G>T p.E470* Nonsense 3/23 - 1
1-232649682-G-A c.1404C>T p.H468= Synonymous 3/23 - 1
1-232649687-T-G c.1399A>C p.I467L Missense 3/23 - 1
1-232649688-A-C c.1398T>G p.P466= Synonymous 3/23 - 2
1-232649688-A-G c.1398T>C p.P466= Synonymous 3/23 - 2
1-232649688-A-T c.1398T>A p.P466= Synonymous 3/23 - 2
1-232649691-C-T c.1395G>A p.Q465= Synonymous 3/23 - 2
1-232649694-G-T c.1392C>A p.N464K Missense 3/23 - 1
1-232649699-C-A c.1387G>T p.E463* Nonsense 3/23 - 1
1-232649701-C-T c.1385G>A p.R462K Missense 3/23 - 1
1-232649711-C-T c.1375G>A p.E459K Missense 3/23 - 1
1-232649712-C-A c.1374G>T p.L458F Missense 3/23 - 1
1-232649712-C-G c.1374G>C p.L458F Missense 3/23 - 1
1-232649715-G-A c.1371C>T p.V457= Synonymous 3/23 - 1
1-232649715-G-C c.1371C>G p.V457= Synonymous 3/23 - 1
1-232649715-G-T c.1371C>A p.V457= Synonymous 3/23 - 1
1-232649717-C-T c.1369G>A p.V457I Missense 3/23 - 7
1-232649718-G-A c.1368C>T p.S456= Synonymous 3/23 - 1
1-232649718-G-C c.1368C>G p.S456= Synonymous 3/23 - 1
1-232649719-G-A c.1367C>T p.S456F Missense 3/23 - 2
1-232649719-GA-AG c.1366_1367delinsCT p.S456L Missense 3/23 - 1
1-232649719-G-C c.1367C>G p.S456C Missense 3/23 - 2
1-232649720-A-G c.1366T>C p.S456P Missense 3/23 - 1
1-232649720-A-T c.1366T>A p.S456T Missense 3/23 - 1
1-232649721-G-A c.1365C>T p.V455= Synonymous 3/23 - 1
1-232649721-G-C c.1365C>G p.V455= Synonymous 3/23 - 1
1-232649721-G-T c.1365C>A p.V455= Synonymous 3/23 - 1
1-232649723-C-A c.1363G>T p.V455F Missense 3/23 - 1
1-232649736-G-A c.1350C>T p.C450= Synonymous 3/23 - 2
1-232649737-C-T c.1349G>A p.C450Y Missense 3/23 - 1
1-232649739-G-A c.1347C>T p.H449= Synonymous 3/23 - 1
1-232649741-G-A c.1345C>T p.H449Y Missense 3/23 - 3
1-232649742-A-G c.1344T>C p.S448= Synonymous 3/23 - 1
1-232649743-G-C c.1343C>G p.S448C Missense 3/23 - 1
1-232649746-C-T c.1340G>A p.S447N Missense 3/23 - 1
1-232649754-C-T c.1332G>A p.S444= Synonymous 3/23 - 2
1-232649759-C-G c.1327G>C p.E443Q Missense 3/23 - 2
1-232649759-C-T c.1327G>A p.E443K Missense 3/23 - 1
1-232649760-G-A c.1326C>T p.F442= Synonymous 3/23 - 1
1-232649770-CT-AG c.1315_1316inv p.S439L Missense 3/23 - 1
1-232649774-C-A c.1312G>T p.E438* Nonsense 3/23 - 1
1-232649774-C-CA c.1311_1312insT p.E438* Nonsense 3/23 - 1
1-232649777-C-G c.1309G>C p.G437R Missense 3/23 - 1
1-232649777-C-T c.1309G>A p.G437R Missense 3/23 - 1
1-232649779-G-A c.1307C>T p.S436F Missense 3/23 - 1
1-232649779-G-C c.1307C>G p.S436C Missense 3/23 - 1
1-232649782-C-A c.1304G>T p.S435I Missense 3/23 - 1
1-232649782-C-G c.1304G>C p.S435T Missense 3/23 - 1
1-232649784-G-A c.1302C>T p.F434= Synonymous 3/23 - 2
1-232649788-GA-TT c.1297_1298delinsAA p.S433N Missense 3/23 - 1
1-232649788-G-C c.1298C>G p.S433C Missense 3/23 - 2
1-232649791-G-A c.1295C>T p.S432F Missense 3/23 - 1
1-232649794-G-A c.1292C>T p.S431L Missense 3/23 - 2
1-232649794-G-C c.1292C>G p.S431* Nonsense 3/23 - 1
1-232649794-G-T c.1292C>A p.S431* Nonsense 3/23 - 1
1-232649794-TG-T c.1292del p.S431Yfs*42 Frameshift 3/23 - 1
1-232649796-G-C c.1290C>G p.N430K Missense 3/23 - 1
1-232649796-G-T c.1290C>A p.N430K Missense 3/23 - 1
1-232649797-T-G c.1289A>C p.N430T Missense 3/23 - 2
1-232649801-C-A c.1285G>T p.A429S Missense 3/23 - 2
1-232649802-TCG-ACA c.1282_1284delinsTGT p.R428C Missense 3/23 - 1
1-232649803-C-T c.1283G>A p.R428Q Missense 3/23 - 1
1-232649804-G-A c.1282C>T p.R428* Nonsense 3/23 - 4
1-232649811-C-A c.1275G>T p.A425= Synonymous 3/23 - 1
1-232649811-C-G c.1275G>C p.A425= Synonymous 3/23 - 1
1-232649811-C-T c.1275G>A p.A425= Synonymous 3/23 - 1
1-232649814-A-G c.1272T>C p.I424= Synonymous 3/23 - 1
1-232649814-A-T c.1272T>A p.I424= Synonymous 3/23 - 2
1-232649815-A-C c.1271T>G p.I424S Missense 3/23 - 3
1-232649818-C-T c.1268G>A p.R423Q Missense 3/23 - 1
1-232649819-G-A c.1267C>T p.R423W Missense 3/23 - 1
1-232649825-C-T c.1261G>A p.D421N Missense 3/23 - 2
1-232649826-G-A c.1260C>T p.G420= Synonymous 3/23 - 3
1-232649826-G-C c.1260C>G p.G420= Synonymous 3/23 - 1
1-232649826-G-T c.1260C>A p.G420= Synonymous 3/23 - 2
1-232649828-C-T c.1258G>A p.G420S Missense 3/23 - 1
1-232649834-C-G c.1252G>C p.G418R Missense 3/23 - 1
1-232649834-C-T c.1252G>A p.G418R Missense 3/23 - 3
1-232649836-C-G c.1250G>C p.G417A Missense 3/23 - 1
1-232649836-C-T c.1250G>A p.G417E Missense 3/23 - 1
1-232649838-A-C c.1248T>G p.T416= Synonymous 3/23 - 3
1-232649838-A-G c.1248T>C p.T416= Synonymous 3/23 - 4
1-232649838-A-T c.1248T>A p.T416= Synonymous 3/23 - 3
1-232649839-GTC-G c.1245_1246del p.E415Dfs*66 Frameshift 3/23 - 1
1-232649843-C-T c.1243G>A p.E415K Missense 3/23 - 1
1-232649843-C-CA c.1242dup p.E415* Nonsense 3/23 - 1
1-232649848-C-A c.1238G>T p.R413I Missense 3/23 - 1
1-232649857-G-A c.1229C>T p.P410L Missense 3/23 - 1
1-232649863-CT-GG c.1222_1223delinsCC p.S408P Missense 3/23 - 1
1-232649876-C-T c.1210G>A p.D404N Missense 3/23 - 2
1-232649877-G-A c.1209C>T p.N403= Synonymous 3/23 - 4
1-232649877-G-C c.1209C>G p.N403K Missense 3/23 - 1
1-232649877-G-T c.1209C>A p.N403K Missense 3/23 - 1
1-232649881-CT-AG c.1204_1205inv p.S402L Missense 3/23 - 1
1-232649883-T-A c.1203A>T p.K401N Missense 3/23 - 1
1-232649883-T-G c.1203A>C p.K401N Missense 3/23 - 1
1-232649884-T-C c.1202A>G p.K401R Missense 3/23 - 1
1-232649887-C-T c.1199G>A p.G400E Missense 3/23 - 1
1-232649889-A-C c.1197T>G p.D399E Missense 3/23 - 1
1-232649889-A-T c.1197T>A p.D399E Missense 3/23 - 2
1-232649896-T-C c.1190A>G p.E397G Missense 3/23 - 2
1-232649898-A-C c.1188T>G p.D396E Missense 3/23 - 1
1-232649898-A-G c.1188T>C p.D396= Synonymous 3/23 - 1
1-232649898-A-T c.1188T>A p.D396E Missense 3/23 - 1
1-232649899-T-A c.1187A>T p.D396V Missense 3/23 - 1
1-232649900-C-T c.1186G>A p.D396N Missense 3/23 - 5
1-232649902-G-A c.1184C>T p.A395V Missense 3/23 - 2
1-232649906-C-A c.1180G>T p.D394Y Missense 3/23 - 1
1-232649906-C-G c.1180G>C p.D394H Missense 3/23 - 1
1-232649912-T-C c.1174A>G p.N392D Missense 3/23 - 1
1-232649913-C-T c.1173G>A p.E391= Synonymous 3/23 - 2
1-232649919-G-A c.1167C>T p.S389= Synonymous 3/23 - 2
1-232649919-G-C c.1167C>G p.S389= Synonymous 3/23 - 1
1-232649919-G-T c.1167C>A p.S389= Synonymous 3/23 - 1
1-232649920-G-A c.1166C>T p.S389F Missense 3/23 - 1
1-232649920-G-C c.1166C>G p.S389C Missense 3/23 - 1
1-232649930-C-A c.1156G>T p.D386Y Missense 3/23 - 1
1-232649933-C-T c.1153G>A p.E385K Missense 3/23 - 6
1-232649937-G-A c.1149C>T p.S383= Synonymous 3/23 - 1
1-232649940-C-T c.1146G>A p.G382= Synonymous 3/23 - 3
1-232649942-C-G c.1144G>C p.G382R Missense 3/23 - 1
1-232649942-C-T c.1144G>A p.G382R Missense 3/23 - 4
1-232649947-G-C c.1139C>G p.P380R Missense 3/23 - 1
1-232649949-G-A c.1137C>T p.S379= Synonymous 3/23 - 3
1-232649949-G-C c.1137C>G p.S379= Synonymous 3/23 - 2
1-232649949-G-T c.1137C>A p.S379= Synonymous 3/23 - 2
1-232649950-G-A c.1136C>T p.S379F Missense 3/23 - 6
1-232649954-C-T c.1132G>A p.E378K Missense 3/23 - 1
1-232649956-C-T c.1130G>A p.C377Y Missense 3/23 - 3
1-232649957-A-G c.1129T>C p.C377R Missense 3/23 - 2
1-232649959-T-C c.1127A>G p.N376S Missense 3/23 - 1
1-232649964-T-A c.1122A>T p.T374= Synonymous 3/23 - 1
1-232649964-T-C c.1122A>G p.T374= Synonymous 3/23 - 1
1-232649964-T-G c.1122A>C p.T374= Synonymous 3/23 - 1
1-232649965-G-C c.1121C>G p.T374R Missense 3/23 - 1
1-232649965-G-T c.1121C>A p.T374K Missense 3/23 - 1
1-232649972-C-A c.1114G>T p.G372C Missense 3/23 - 1
1-232649972-C-T c.1114G>A p.G372S Missense 3/23 - 1
1-232649973-CG-GA c.1112_1113delinsTC p.T371I Missense 3/23 - 1
1-232649974-G-A c.1112C>T p.T371M Missense 3/23 - 4
1-232649974-G-T c.1112C>A p.T371K Missense 3/23 - 1
1-232649977-G-A c.1109C>T p.P370L Missense 3/23 - 1
1-232649979-C-T c.1107G>A p.M369I Missense 3/23 - 1
1-232649983-T-C c.1103A>G p.Q368R Missense 3/23 - 1
1-232649984-G-A c.1102C>T p.Q368* Nonsense 3/23 - 2
1-232649984-G-C c.1102C>G p.Q368E Missense 3/23 - 1
1-232649987-T-C c.1099A>G p.T367A Missense 3/23 - 1
1-232649989-T-A c.1097A>T p.Q366L Missense 3/23 - 1
1-232649994-T-A c.1092A>T p.A364= Synonymous 3/23 - 1
1-232649994-T-C c.1092A>G p.A364= Synonymous 3/23 - 1
1-232649994-T-G c.1092A>C p.A364= Synonymous 3/23 - 1
1-232649999-C-T c.1087G>A p.A363T Missense 3/23 - 2
1-232650001-G-A c.1085C>T p.S362F Missense 3/23 - 6
1-232650001-G-T c.1085C>A p.S362Y Missense 3/23 - 1
1-232650005-C-A c.1081G>T p.A361S Missense 3/23 - 1
1-232650007-C-A c.1079G>T p.G360V Missense 3/23 - 1
1-232650007-C-T c.1079G>A p.G360E Missense 3/23 - 1
1-232650009-A-C c.1077T>G p.T359= Synonymous 3/23 - 1
1-232650009-A-G c.1077T>C p.T359= Synonymous 3/23 - 1
1-232650009-AG-CA c.1076_1077delinsTG p.T359M Missense 3/23 - 1
1-232650009-A-T c.1077T>A p.T359= Synonymous 3/23 - 1
1-232650016-A-G c.1070T>C p.I357T Missense 3/23 - 1
1-232650019-T-C c.1067A>G p.N356S Missense 3/23 - 1
1-232650021-T-A c.1065A>T p.K355N Missense 3/23 - 1
1-232650021-T-G c.1065A>C p.K355N Missense 3/23 - 1
1-232650022-T-C c.1064A>G p.K355R Missense 3/23 - 1
1-232650018-GT-G c.1067del p.N356Tfs*2 Frameshift 3/23 - 1
1-232650028-T-C c.1058A>G p.K353R Missense 3/23 - 1
1-232650032-C-G c.1054G>C p.G352R Missense 3/23 - 1
1-232650032-C-T c.1054G>A p.G352R Missense 3/23 - 1
1-232650040-G-A c.1046C>T p.A349V Missense 3/23 - 1
1-232650040-G-C c.1046C>G p.A349G Missense 3/23 - 1
1-232650044-T-C c.1042A>G p.R348G Missense 3/23 - 1
1-232650046-G-A c.1040C>T p.T347M Missense 3/23 - 1
1-232650047-T-C c.1039A>G p.T347A Missense 3/23 - 1
1-232650053-T-C c.1033A>G p.M345V Missense 3/23 - 1
1-232650055-G-A c.1031C>T p.A344V Missense 3/23 - 1
1-232650057-T-A c.1029A>T p.E343D Missense 3/23 - 2
1-232650057-T-G c.1029A>C p.E343D Missense 3/23 - 2
1-232650059-C-A c.1027G>T p.E343* Nonsense 3/23 - 1
1-232650059-C-T c.1027G>A p.E343K Missense 3/23 - 5
1-232650060-G-A c.1026C>T p.N342= Synonymous 3/23 - 1
1-232650063-G-C c.1023C>G p.I341M Missense 3/23 - 1
1-232650066-A-G c.1020T>C p.N340= Synonymous 3/23 - 1
1-232650068-T-A c.1018A>T p.N340Y Missense 3/23 - 3
1-232650077-T-C c.1009A>G p.I337V Missense 3/23 - 1
1-232650077-T-G c.1009A>C p.I337L Missense 3/23 - 1
1-232650078-G-C c.1008C>G p.S336R Missense 3/23 - 1
1-232650078-G-T c.1008C>A p.S336R Missense 3/23 - 1
1-232650080-T-G c.1006A>C p.S336R Missense 3/23 - 1
1-232650079-C-T c.1007G>A p.S336N Missense 3/23 - 1
1-232650082-T-A c.1004A>T p.Q335L Missense 3/23 - 1
1-232650095-G-A c.991C>T p.H331Y Missense 3/23 - 3
1-232650098-C-T c.988G>A p.A330T Missense 3/23 - 1
1-232650098-CAAA-C c.985_987del p.F329del InFrameDeletion 3/23 - 1
1-232650102-A-G c.984T>C p.C328= Synonymous 3/23 - 1
1-232650106-C-T c.980G>A p.R327Q Missense 3/23 - 4
1-232650107-G-A c.979C>T p.R327* Nonsense 3/23 - 1
1-232650107-G-T c.979C>A p.R327= Synonymous 3/23 - 1
1-232650113-A-G c.973T>C p.C325R Missense 3/23 - 1
1-232650123-G-A c.963C>T p.R321= Synonymous 3/23 - 2
1-232650123-G-C c.963C>G p.R321= Synonymous 3/23 - 1
1-232650123-GC-TT c.962_963delinsAA p.R321Q Missense 3/23 - 1
1-232650123-G-T c.963C>A p.R321= Synonymous 3/23 - 1
1-232650124-C-T c.962G>A p.R321H Missense 3/23 - 6
1-232650125-G-A c.961C>T p.R321C Missense 3/23 - 2
1-232650131-C-A c.955G>T p.G319C Missense 3/23 - 1
1-232650133-C-T c.953G>A p.R318K Missense 3/23 - 1
1-232650135-C-T c.951G>A p.E317= Synonymous 3/23 - 1
1-232650137-C-A c.949G>T p.E317* Nonsense 3/23 - 2
1-232650137-C-T c.949G>A p.E317K Missense 3/23 - 1
1-232650138-C-T c.948G>A p.L316= Synonymous 3/23 - 1
1-232650140-G-T c.946C>A p.L316M Missense 3/23 - 1
1-232650142-C-A c.944G>T p.R315L Missense 3/23 - 4
1-232650143-G-A c.943C>T p.R315* Nonsense 3/23 - 1
1-232650149-C-T c.937G>A p.E313K Missense 3/23 - 1
1-232650150-C-A c.936G>T p.E312D Missense 3/23 - 1
1-232650153-C-A c.933G>T p.L311= Synonymous 3/23 - 1
1-232650153-C-G c.933G>C p.L311= Synonymous 3/23 - 1
1-232650153-C-T c.933G>A p.L311= Synonymous 3/23 - 1
1-232650155-G-A c.931C>T p.L311= Synonymous 3/23 - 1
1-232650162-C-T c.924G>A p.T308= Synonymous 3/23 - 1
1-232650163-G-A c.923C>T p.T308M Missense 3/23 - 1
1-232650163-G-T c.923C>A p.T308K Missense 3/23 - 1
1-232650164-T-C c.922A>G p.T308A Missense 3/23 - 5
1-232650165-G-C c.921C>G p.F307L Missense 3/23 - 1
1-232650171-G-A c.915C>T p.F305= Synonymous 3/23 - 1
1-232650175-G-T c.911C>A p.T304N Missense 3/23 - 1
1-232650179-C-T c.907G>A p.E303K Missense 3/23 - 9
1-232650180-G-A c.906C>T p.H302= Synonymous 3/23 - 2
1-232650181-T-C c.905A>G p.H302R Missense 3/23 - 1
1-232650186-A-G c.900T>C p.S300= Synonymous 3/23 - 1
1-232650187-C-T c.899G>A p.S300N Missense 3/23 - 1
1-232650199-C-T c.887G>A p.R296Q Missense 3/23 - 7
1-232650198-T-A c.888A>T p.R296= Synonymous 3/23 - 1
1-232650198-T-C c.888A>G p.R296= Synonymous 3/23 - 1
1-232650198-T-G c.888A>C p.R296= Synonymous 3/23 - 1
1-232650200-G-A c.886C>T p.R296* Nonsense 3/23 - 2
1-232650200-G-T c.886C>A p.R296= Synonymous 3/23 - 1
1-232650201-A-C c.885T>G p.L295= Synonymous 3/23 - 1
1-232650201-A-G c.885T>C p.L295= Synonymous 3/23 - 1
1-232650201-A-T c.885T>A p.L295= Synonymous 3/23 - 1
1-232650203-G-T c.883C>A p.L295I Missense 3/23 - 1
1-232650209-G-A c.877C>T p.R293* Nonsense 3/23 - 3
1-232650210-G-T c.876C>A p.F292L Missense 3/23 - 1
1-232650215-G-A c.871C>T p.L291F Missense 3/23 - 2
1-232650215-G-C c.871C>G p.L291V Missense 3/23 - 1
1-232650218-A-G c.868T>C p.S290P Missense 3/23 - 1
1-232650219-TG-CA c.866_867inv p.T289M Missense 3/23 - 1
1-232650220-G-A c.866C>T p.T289I Missense 3/23 - 1
1-232650224-C-T c.862G>A p.E288K Missense 3/23 - 1
1-232650228-C-A c.858G>T p.S286= Synonymous 3/23 - 1
1-232650228-C-T c.858G>A p.S286= Synonymous 3/23 - 3
1-232650233-C-T c.853G>A p.E285K Missense 3/23 - 1
1-232650234-T-A c.852A>T p.S284= Synonymous 3/23 - 1
1-232650234-T-C c.852A>G p.S284= Synonymous 3/23 - 1
1-232650234-T-G c.852A>C p.S284= Synonymous 3/23 - 2
1-232650236-A-C c.850T>G p.S284A Missense 3/23 - 1
1-232650239-T-C c.847A>G p.K283E Missense 3/23 - 1
1-232650243-C-A c.843G>T p.R281S Missense 3/23 - 1
1-232650243-C-G c.843G>C p.R281S Missense 3/23 - 2
1-232650248-G-A c.838C>T p.R280W Missense 3/23 - 1
1-232650253-A-G c.833T>C p.F278S Missense 3/23 - 1
1-232650252-G-C c.834C>G p.F278L Missense 3/23 - 1
1-232650252-G-T c.834C>A p.F278L Missense 3/23 - 1
1-232650254-A-G c.832T>C p.F278L Missense 3/23 - 1
1-232650258-C-A c.828G>T p.K276N Missense 3/23 - 1
1-232650258-C-G c.828G>C p.K276N Missense 3/23 - 1
1-232650261-G-T c.825C>A p.D275E Missense 3/23 - 1
1-232650263-C-T c.823G>A p.D275N Missense 3/23 - 4
1-232650266-T-A c.820A>T p.R274W Missense 3/23 - 1
1-232650269-C-T c.817G>A p.D273N Missense 3/23 - 1
1-232650273-CCC-GCT c.811_813delinsAGC p.G271S Missense 3/23 - 1
1-232650274-C-T c.812G>A p.G271E Missense 3/23 - 3
1-232650272-T-TC c.813dup p.R272Efs*28 Frameshift 3/23 - 1
1-232650277-A-G c.809T>C p.M270T Missense 3/23 - 1
1-232650279-C-A c.807G>T p.L269= Synonymous 3/23 - 1
1-232650279-C-G c.807G>C p.L269= Synonymous 3/23 - 1
1-232650279-C-T c.807G>A p.L269= Synonymous 3/23 - 1
1-232650281-G-A c.805C>T p.L269= Synonymous 3/23 - 1
1-232650283-A-T c.803T>A p.L268H Missense 3/23 - 1
1-232650284-G-C c.802C>G p.L268V Missense 3/23 - 1
1-232650286-G-A c.800C>T p.A267V Missense 3/23 - 4
1-232650287-C-A c.799G>T p.A267S Missense 3/23 - 1
1-232650287-C-T c.799G>A p.A267T Missense 3/23 - 1
1-232650288-A-T c.798T>A p.S266R Missense 3/23 - 1
1-232650289-C-T c.797G>A p.S266N Missense 3/23 - 1
1-232650291-G-A c.795C>T p.D265= Synonymous 3/23 - 1
1-232650294-C-T c.792G>A p.V264= Synonymous 3/23 - 1
1-232650296-C-A c.790G>T p.V264L Missense 3/23 - 1
1-232650296-C-G c.790G>C p.V264L Missense 3/23 - 1
1-232650302-C-T c.784G>A p.D262N Missense 3/23 - 2
1-232650310-G-A c.776C>T p.S259L Missense 3/23 - 1
1-232650310-GA-CC c.775_776delinsGG p.S259G Missense 3/23 - 1
1-232650316-C-A c.770G>T p.R257L Missense 3/23 - 1
1-232650317-G-A c.769C>T p.R257C Missense 3/23 - 2
1-232650317-G-C c.769C>G p.R257G Missense 3/23 - 1
1-232650329-C-T c.757G>A p.G253R Missense 3/23 - 1
1-232650330-C-T c.756G>A p.R252= Synonymous 3/23 - 4
1-232650332-T-G c.754A>C p.R252= Synonymous 3/23 - 1
1-232650331-C-A c.755G>T p.R252M Missense 3/23 - 1
1-232650362-G-T c.724C>A p.P242T Missense 3/23 - 1
1-232650366-G-A c.720C>T p.I240= Synonymous 3/23 - 3
1-232650368-T-C c.718A>G p.I240V Missense 3/23 - 1
1-232650370-G-A c.716C>T p.A239V Missense 3/23 - 1
1-232650373-G-A c.713C>T p.P238L Missense 3/23 - 1
1-232650377-C-T c.709G>A p.D237N Missense 3/23 - 1
1-232650378-A-G c.708T>C p.C236= Synonymous 3/23 - 1
1-232650382-C-T c.704G>A p.R235H Missense 3/23 - 2
1-232650383-G-A c.703C>T p.R235C Missense 3/23 - 3
1-232650383-G-C c.703C>G p.R235G Missense 3/23 - 1
1-232650392-C-T c.694G>A p.E232K Missense 3/23 - 1
1-232650395-G-C c.691C>G p.P231A Missense 3/23 - 1
1-232650395-G-T c.691C>A p.P231T Missense 3/23 - 3
1-232650396-G-A c.690C>T p.F230= Synonymous 3/23 - 1
1-232650396-G-C c.690C>G p.F230L Missense 3/23 - 1
1-232650396-G-T c.690C>A p.F230L Missense 3/23 - 1
1-232650398-A-G c.688T>C p.F230L Missense 3/23 - 1
1-232650402-A-G c.684T>C p.F228= Synonymous 3/23 - 1
1-232650405-A-C c.681T>G p.P227= Synonymous 3/23 - 1
1-232650405-A-G c.681T>C p.P227= Synonymous 3/23 - 2
1-232650405-A-T c.681T>A p.P227= Synonymous 3/23 - 1
1-232650406-G-A c.680C>T p.P227L Missense 3/23 - 1
1-232650407-G-A c.679C>T p.P227S Missense 3/23 - 5
1-232650408-G-A c.678C>T p.V226= Synonymous 3/23 - 1
1-232650408-G-C c.678C>G p.V226= Synonymous 3/23 - 2
1-232650409-A-G c.677T>C p.V226A Missense 3/23 - 1
1-232650410-C-A c.676G>T p.V226F Missense 3/23 - 1
1-232650410-C-G c.676G>C p.V226L Missense 3/23 - 1
1-232650410-C-T c.676G>A p.V226I Missense 3/23 - 3
1-232650413-T-A c.673A>T p.M225L Missense 3/23 - 1
1-232650413-T-C c.673A>G p.M225V Missense 3/23 - 1
1-232650413-T-G c.673A>C p.M225L Missense 3/23 - 1
1-232650416-C-A c.670G>T p.A224S Missense 3/23 - 2
1-232650416-C-T c.670G>A p.A224T Missense 3/23 - 1
1-232650420-G-A c.666C>T p.H222= Synonymous 3/23 - 1
1-232650421-T-C c.665A>G p.H222R Missense 3/23 - 1
1-232650434-C-A c.652G>T p.E218* Nonsense 3/23 - 1
1-232650439-C-A c.647G>T p.R216L Missense 3/23 - 2
1-232650439-C-T c.647G>A p.R216Q Missense 3/23 - 2
1-232650442-T-C c.644A>G p.Y215C Missense 3/23 - 1
1-232650450-G-A c.636C>T p.L212= Synonymous 3/23 - 1
1-232650454-A-G c.632T>C p.M211T Missense 3/23 - 2
1-232650458-C-T c.628G>A p.A210T Missense 3/23 - 1
1-232650459-A-C c.627T>G p.F209L Missense 3/23 - 2
1-232650459-A-T c.627T>A p.F209L Missense 3/23 - 2
1-232650461-A-G c.625T>C p.F209L Missense 3/23 - 2
1-232650470-C-T c.616G>A p.E206K Missense 3/23 - 2
1-232650470-C-CA c.615dup p.E206* Nonsense 3/23 - 1
1-232650471-ACC-TCA c.613_615delinsTGA p.G205* Nonsense 3/23 - 1
1-232650472-C-A c.614G>T p.G205V Missense 3/23 - 1
1-232650472-C-T c.614G>A p.G205D Missense 3/23 - 1
1-232650475-GA-TT c.610_611delinsAA p.S204N Missense 3/23 - 1
1-232650475-G-T c.611C>A p.S204Y Missense 3/23 - 1
1-232650477-T-C c.609A>G p.L203= Synonymous 3/23 - 1
1-232650479-A-G c.607T>C p.L203= Synonymous 3/23 - 1
1-232650491-C-T c.595G>A p.D199N Missense 3/23 - 3
1-232650492-G-A c.594C>T p.I198= Synonymous 3/23 - 3
1-232650492-G-T c.594C>A p.I198= Synonymous 3/23 - 1
1-232650496-G-C c.590C>G p.S197C Missense 3/23 - 1
1-232650497-A-T c.589T>A p.S197T Missense 3/23 - 1
1-232650499-G-A c.587C>T p.S196L Missense 3/23 - 1
1-232650503-T-C c.583A>G p.T195A Missense 3/23 - 1
1-232650505-CT-AG c.580_581inv p.S194L Missense 3/23 - 1
1-232650507-T-C c.579A>G p.G193= Synonymous 3/23 - 1
1-232650508-C-G c.578G>C p.G193A Missense 3/23 - 1
1-232650515-C-T c.571G>A p.E191K Missense 3/23 - 2
1-232650517-CCT-C c.568_569del p.R190Gfs*16 Frameshift 3/23 - 1
1-232650518-T-A c.568A>T p.R190W Missense 3/23 - 2
1-232650521-G-A c.565C>T p.H189Y Missense 3/23 - 1
1-232650524-G-T c.562C>A p.L188M Missense 3/23 - 2
1-232650533-C-G c.553G>C p.G185R Missense 3/23 - 1
1-232650533-C-T c.553G>A p.G185R Missense 3/23 - 6
1-232650536-T-C c.550A>G p.T184A Missense 3/23 - 1
1-232650538-T-C c.548A>G p.N183S Missense 3/23 - 8
1-232650541-G-A c.545C>T p.P182L Missense 3/23 - 1
1-232650542-G-A c.544C>T p.P182S Missense 3/23 - 1
1-232650543-G-A c.543C>T p.N181= Synonymous 3/23 - 1
1-232650545-T-A c.541A>T p.N181Y Missense 3/23 - 1
1-232650548-C-G c.538G>C p.V180L Missense 3/23 - 1
1-232650550-G-A c.536C>T p.A179V Missense 3/23 - 1
1-232650559-T-A c.527A>T p.D176V Missense 3/23 - 1
1-232650560-C-T c.526G>A p.D176N Missense 3/23 - 1
1-232650566-C-T c.520G>A p.V174I Missense 3/23 - 2
1-232650572-C-A c.514G>T p.E172* Nonsense 3/23 - 1
1-232650572-C-T c.514G>A p.E172K Missense 3/23 - 1
1-232650574-G-A c.512C>T p.A171V Missense 3/23 - 2
1-232650579-A-G c.507T>C p.I169= Synonymous 3/23 - 1
1-232650579-A-T c.507T>A p.I169= Synonymous 3/23 - 1
1-232650584-C-A c.502G>T p.D168Y Missense 3/23 - 1
1-232650588-G-A c.498C>T p.I166= Synonymous 3/23 - 3
1-232650588-G-C c.498C>G p.I166M Missense 3/23 - 1
1-232650588-G-T c.498C>A p.I166= Synonymous 3/23 - 2
1-232650590-T-C c.496A>G p.I166V Missense 3/23 - 4
1-232650598-T-A c.488A>T p.D163V Missense 3/23 - 3
1-232650607-C-A c.479G>T p.S160I Missense 3/23 - 1
1-232650607-CT-GC c.478_479delinsGC p.S160A Missense 3/23 - 1
1-232650610-C-A c.476G>T p.R159M Missense 3/23 - 1
1-232650612-C-T c.474G>A p.Q158= Synonymous 3/23 - 1
1-232650614-G-A c.472C>T p.Q158* Nonsense 3/23 - 1
1-232650615-T-A c.471A>T p.R157S Missense 3/23 - 1
1-232650615-TC-CA c.470_471delinsTG p.R157M Missense 3/23 - 1
1-232650615-TCT-CCA c.469_471delinsTGG p.R157W Missense 3/23 - 1
1-232650615-T-G c.471A>C p.R157S Missense 3/23 - 1
1-232650626-G-A c.460C>T p.H154Y Missense 3/23 - 5
1-232650626-G-T c.460C>A p.H154N Missense 3/23 - 1
1-232650631-C-G c.455G>C p.G152A Missense 3/23 - 1
1-232650634-C-G c.452G>C p.R151T Missense 3/23 - 1
1-232650641-G-A c.445C>T p.P149S Missense 3/23 - 2
1-232650642-G-A c.444C>T p.S148= Synonymous 3/23 - 1
1-232650642-G-C c.444C>G p.S148= Synonymous 3/23 - 1
1-232650642-G-T c.444C>A p.S148= Synonymous 3/23 - 1
1-232650637-T-TG c.448dup p.Q150Pfs*13 Frameshift 3/23 - 1
1-232650649-A-G c.437T>C p.V146A Missense 3/23 - 2
1-232650650-C-G c.436G>C p.V146L Missense 3/23 - 1
1-232650653-A-C c.433T>G p.F145V Missense 3/23 - 1
1-232650654-G-A c.432C>T p.I144= Synonymous 3/23 - 1
1-232650662-C-G c.424G>C p.G142R Missense 3/23 - 1
1-232650663-G-A c.423C>T p.I141= Synonymous 3/23 - 1
1-232650663-G-T c.423C>A p.I141= Synonymous 3/23 - 1
1-232650665-T-C c.421A>G p.I141V Missense 3/23 - 1
1-232650680-C-A c.406G>T p.E136* Nonsense 3/23 - 1
1-232650683-C-A c.403G>T p.V135L Missense 3/23 - 1
1-232650683-C-T c.403G>A p.V135M Missense 3/23 - 2
1-232650684-G-A c.402C>T p.F134= Synonymous 3/23 - 7
1-232650684-G-C c.402C>G p.F134L Missense 3/23 - 1
1-232650689-C-G c.397G>C p.D133H Missense 3/23 - 1
1-232650691-A-G c.395T>C p.L132P Missense 3/23 - 1
1-232650693-A-C c.393T>G p.D131E Missense 3/23 - 1
1-232650693-A-T c.393T>A p.D131E Missense 3/23 - 1
1-232650695-C-T c.391G>A p.D131N Missense 3/23 - 2
1-232650696-G-A c.390C>T p.L130= Synonymous 3/23 - 5
1-232650696-G-C c.390C>G p.L130= Synonymous 3/23 - 1
1-232650696-G-T c.390C>A p.L130= Synonymous 3/23 - 1
1-232650699-C-A c.387G>T p.Q129H Missense 3/23 - 1
1-232650699-C-G c.387G>C p.Q129H Missense 3/23 - 1
1-232650703-T-C c.383A>G p.E128G Missense 3/23 - 1
1-232650711-C-A c.375G>T p.Q125H Missense 3/23 - 1
1-232650711-C-G c.375G>C p.Q125H Missense 3/23 - 1
1-232650719-C-T c.367G>A p.E123K Missense 3/23 - 2
1-232650724-T-C c.362A>G p.Q121R Missense 3/23 - 1
1-232650725-G-A c.361C>T p.Q121* Nonsense 3/23 - 2
1-232650730-C-G c.356G>C p.S119T Missense 3/23 - 3
1-232650738-A-T c.348T>A p.N116K Missense 3/23 - 1
1-232650739-T-C c.347A>G p.N116S Missense 3/23 - 1
1-232650740-T-C c.346A>G p.N116D Missense 3/23 - 1
1-232650741-C-T c.345G>A p.Q115= Synonymous 3/23 - 1
1-232650743-G-C c.343C>G p.Q115E Missense 3/23 - 1
1-232650746-G-T c.340C>A p.L114M Missense 3/23 - 1
1-232650749-C-A c.337G>T p.V113F Missense 3/23 - 1
1-232650749-C-T c.337G>A p.V113I Missense 3/23 - 4
1-232650750-A-C c.336T>G p.S112= Synonymous 3/23 - 1
1-232650750-A-G c.336T>C p.S112= Synonymous 3/23 - 22
1-232650750-A-T c.336T>A p.S112= Synonymous 3/23 - 17
1-232650751-G-A c.335C>T p.S112F Missense 3/23 - 1
1-232650756-G-A c.330C>T p.I110= Synonymous 3/23 - 2
1-232650774-C-A c.312G>T p.Q104H Missense 3/23 - 3
1-232650774-C-G c.312G>C p.Q104H Missense 3/23 - 2
1-232650774-C-T c.312G>A p.Q104= Synonymous 3/23 - 2
1-232650776-G-A c.310C>T p.Q104* Nonsense 3/23 - 1
1-232650778-G-A c.308C>T p.S103F Missense 3/23 - 1
1-232650780-C-A c.306G>T p.R102= Synonymous 3/23 - 3
1-232650781-C-A c.305G>T p.R102L Missense 3/23 - 1
1-232650781-C-T c.305G>A p.R102Q Missense 3/23 - 2
1-232650780-C-G c.306G>C p.R102= Synonymous 3/23 - 1
1-232650780-C-T c.306G>A p.R102= Synonymous 3/23 - 1
1-232650782-G-A c.304C>T p.R102W Missense 3/23 - 2
1-232650782-G-C c.304C>G p.R102G Missense 3/23 - 1
1-232650782-G-T c.304C>A p.R102= Synonymous 3/23 - 1
1-232650789-C-A c.297G>T p.W99C Missense 3/23 - 2
1-232650789-C-T c.297G>A p.W99* Nonsense 3/23 - 2
1-232650790-C-A c.296G>T p.W99L Missense 3/23 - 2
1-232650790-C-T c.296G>A p.W99* Nonsense 3/23 - 1
1-232650791-A-C c.295T>G p.W99G Missense 3/23 - 1
1-232650793-A-C c.293T>G p.L98R Missense 3/23 - 1
1-232650796-G-A c.290C>T p.A97V Missense 3/23 - 3
1-232650798-C-T c.288G>A p.K96= Synonymous 3/23 - 2
1-232650803-A-T c.283T>A p.C95S Missense 3/23 - 1
1-232650810-C-G c.276G>C p.E92D Missense 3/23 - 1
1-232650812-C-T c.274G>A p.E92K Missense 3/23 - 1
1-232650816-G-C c.270C>G p.S90= Synonymous 3/23 - 1
1-232650817-G-A c.269C>T p.S90F Missense 3/23 - 1
1-232650824-C-G c.262G>C p.D88H Missense 3/23 - 1
1-232650826-T-C c.260A>G p.K87R Missense 3/23 - 1
1-232650827-T-C c.259A>G p.K87E Missense 3/23 - 1
1-232650833-G-A c.253C>T p.P85S Missense 3/23 - 3
1-232650836-G-C c.250C>G p.P84A Missense 3/23 - 1
1-232650836-G-T c.250C>A p.P84T Missense 3/23 - 4
1-232650842-C-G c.244G>C p.E82Q Missense 3/23 - 4
1-232650846-C-A c.240G>T p.V80= Synonymous 3/23 - 1
1-232650846-C-G c.240G>C p.V80= Synonymous 3/23 - 1
1-232650846-C-T c.240G>A p.V80= Synonymous 3/23 - 1
1-232650848-C-A c.238G>T p.V80L Missense 3/23 - 1
1-232650848-C-T c.238G>A p.V80M Missense 3/23 - 1
1-232650849-CCT-ACA c.235_237delinsTGT p.R79C Missense 3/23 - 1
1-232650854-C-T c.232G>A p.A78T Missense 3/23 - 1
1-232650855-T-C c.231A>G p.R77= Synonymous 3/23 - 1
1-232650855-TCT-ACA c.229_231delinsTGT p.R77C Missense 3/23 - 1
1-232650857-T-G c.229A>C p.R77= Synonymous 3/23 - 1
1-232650856-C-T c.230G>A p.R77K Missense 3/23 - 3
1-232650860-C-A c.226G>T p.V76L Missense 3/23 - 1
1-232650860-C-G c.226G>C p.V76L Missense 3/23 - 1
1-232650867-C-A c.219G>T p.K73N Missense 3/23 - 1
1-232650867-C-G c.219G>C p.K73N Missense 3/23 - 1
1-232650867-C-T c.219G>A p.K73= Synonymous 3/23 - 25
1-232650873-C-G c.213G>C p.V71= Synonymous 3/23 - 1
1-232650878-C-T c.208G>A p.A70T Missense 3/23 - 2
1-232650880-G-A c.206C>T p.P69L Missense 3/23 - 1
1-232650880-G-T c.206C>A p.P69Q Missense 3/23 - 1
1-232650886-C-T c.200G>A p.G67D Missense 3/23 - 1
1-232650891-A-C c.195T>G p.A65= Synonymous 3/23 - 1
1-232650891-A-G c.195T>C p.A65= Synonymous 3/23 - 1
1-232650891-A-T c.195T>A p.A65= Synonymous 3/23 - 1
1-232650892-G-C c.194C>G p.A65G Missense 3/23 - 1
1-232650894-CG-AT c.191_192delinsAT p.P64H Missense 3/23 - 2
1-232650895-G-A c.191C>T p.P64L Missense 3/23 - 4
1-232650895-G-T c.191C>A p.P64Q Missense 3/23 - 1
1-232650896-G-A c.190C>T p.P64S Missense 3/23 - 1
1-232650898-C-G c.188G>C p.G63A Missense 3/23 - 1
1-232650899-C-A c.187G>T p.G63C Missense 3/23 - 4
1-232650900-A-C c.186T>G p.G62= Synonymous 3/23 - 1
1-232650903-A-C c.183T>G p.G61= Synonymous 3/23 - 1
1-232650903-A-G c.183T>C p.G61= Synonymous 3/23 - 1
1-232650903-A-T c.183T>A p.G61= Synonymous 3/23 - 1
1-232650904-C-T c.182G>A p.G61D Missense 3/23 - 1
1-232650905-C-A c.181G>T p.G61C Missense 3/23 - 3
1-232650905-C-T c.181G>A p.G61S Missense 3/23 - 2
1-232650906-G-A c.180C>T p.G60= Synonymous 3/23 - 2
1-232650906-G-C c.180C>G p.G60= Synonymous 3/23 - 2
1-232650906-G-T c.180C>A p.G60= Synonymous 3/23 - 2
1-232650909-AG-CA c.176_177delinsTG p.T59M Missense 3/23 - 1
1-232650916-T-C c.170A>G p.N57S Missense 3/23 - 1
1-232650924-C-A c.162G>T p.S54= Synonymous 3/23 - 1
1-232650924-C-G c.162G>C p.S54= Synonymous 3/23 - 1
1-232650924-C-T c.162G>A p.S54= Synonymous 3/23 - 1
1-232650928-GC-AT c.157_158delinsAT p.A53I Missense 3/23 - 1
1-232650928-G-T c.158C>A p.A53D Missense 3/23 - 1
1-232650934-A-C c.152T>G p.L51* Nonsense 3/23 - 1
1-232650934-A-T c.152T>A p.L51* Nonsense 3/23 - 1
1-232650937-GA-TC c.148_149inv p.S50D Missense 3/23 - 1
1-232650938-A-C c.148T>G p.S50A Missense 3/23 - 1
1-232650941-T-C c.145A>G p.T49A Missense 3/23 - 5
1-232650945-G-A c.141C>T p.P47= Synonymous 3/23 - 1
1-232650945-G-C c.141C>G p.P47= Synonymous 3/23 - 1
1-232650945-G-T c.141C>A p.P47= Synonymous 3/23 - 1
1-232650946-G-A c.140C>T p.P47L Missense 3/23 - 1
1-232650944-TG-T c.141del p.T48Lfs*4 Frameshift 3/23 - 1
1-232650953-T-C c.133A>G p.M45V Missense 3/23 - 1
1-232650958-C-T c.128G>A p.G43D Missense 3/23 - 1
1-232650959-C-T c.127G>A p.G43S Missense 3/23 - 1
1-232650961-T-C c.125A>G p.N42S Missense 3/23 - 2
1-232650966-G-A c.120C>T p.A40= Synonymous 3/23 - 1
1-232650966-GG-CT c.119_120delinsAG p.A40E Missense 3/23 - 1
1-232650967-GC-CA c.118_119delinsTG p.A40C Missense 3/23 - 1
1-232650968-C-T c.118G>A p.A40T Missense 3/23 - 1
1-232650971-T-C c.115A>G p.K39E Missense 3/23 - 1
1-232650973-A-C c.113T>G p.F38C Missense 3/23 - 1
1-232650976-T-A c.110A>T p.K37I Missense 3/23 - 3
1-232650978-C-A c.108G>T p.R36= Synonymous 3/23 - 1
1-232650994-T-A c.92A>T p.D31V Missense 3/23 - 1
1-232650994-T-C c.92A>G p.D31G Missense 3/23 - 1
1-232650997-G-C c.89C>G p.S30* Nonsense 3/23 - 1
1-232650997-G-T c.89C>A p.S30* Nonsense 3/23 - 1
1-232651001-G-A c.85C>T p.Q29* Nonsense 3/23 - 1
1-232651004-T-A c.82A>T p.M28L Missense 3/23 - 1
1-232651004-T-G c.82A>C p.M28L Missense 3/23 - 1
1-232651005-G-A c.81C>T p.I27= Synonymous 3/23 - 1
1-232651005-G-T c.81C>A p.I27= Synonymous 3/23 - 1
1-232651012-G-T c.74C>A p.P25H Missense 3/23 - 1
1-232651017-GAT-G c.68_69del p.D23Afs*3 Frameshift 3/23 - 1
1-232651019-C-T c.67G>A p.D23N Missense 3/23 - 2
1-232651020-C-G c.66G>C p.K22N Missense 3/23 - 1
1-232651023-G-C c.63C>G p.F21L Missense 3/23 - 1
1-232651023-G-T c.63C>A p.F21L Missense 3/23 - 1
1-232651025-A-G c.61T>C p.F21L Missense 3/23 - 1
1-232651029-T-C c.57A>G p.S19= Synonymous 3/23 - 1
1-232651030-G-C c.56C>G p.S19* Nonsense 3/23 - 1
1-232651030-G-T c.56C>A p.S19* Nonsense 3/23 - 1
1-232651033-G-A c.53C>T p.S18F Missense 3/23 - 1
1-232651035-G-A c.51C>T p.A17= Synonymous 3/23 - 1
1-232651035-G-C c.51C>G p.A17= Synonymous 3/23 - 1
1-232651035-GGC-CAT c.49_51delinsATG p.A17M Missense 3/23 - 1
1-232651035-G-T c.51C>A p.A17= Synonymous 3/23 - 1
1-232651037-C-T c.49G>A p.A17T Missense 3/23 - 1
1-232651039-C-G c.47G>C p.R16T Missense 3/23 - 1
1-232651042-C-A c.44G>T p.G15V Missense 3/23 - 1
1-232651047-C-A c.39G>T p.K13N Missense 3/23 - 1
1-232651047-C-G c.39G>C p.K13N Missense 3/23 - 1
1-232651049-T-G c.37A>C p.K13Q Missense 3/23 - 1
1-232651053-C-A c.33G>T p.K11N Missense 3/23 - 1
1-232651059-T-A c.27A>T p.E9D Missense 3/23 - 3
1-232651059-T-G c.27A>C p.E9D Missense 3/23 - 5
1-232651061-C-A c.25G>T p.E9* Nonsense 3/23 - 3
1-232651065-T-C c.21A>G p.S7= Synonymous 3/23 - 1
1-232651070-G-A c.16C>T p.Q6* Nonsense 3/23 - 2
1-232651073-T-A c.13A>T p.R5W Missense 3/23 - 1
1-232651074-T-A c.12A>T p.P4= Synonymous 3/23 - 1
1-232651074-T-C c.12A>G p.P4= Synonymous 3/23 - 1
1-232651074-T-G c.12A>C p.P4= Synonymous 3/23 - 1
1-232651075-G-A c.11C>T p.P4L Missense 3/23 - 1
1-232651084-A-T c.2T>A p.M1? Missense 3/23 - 1
1-232765308-A-G c.-319+307T>C - 5-UTRSNV - 1/22 1
1-232651151-C-T c.-66G>A - 5-UTRSNV 3/23 - 1
1-232651197-G-T c.-112C>A - 5-UTRSNV 3/23 - 1
1-232660040-A-G c.-269-8686T>C - IntergenicSNV - 2/22 1
1-232660899-T-G c.-269-9545A>C - IntergenicSNV - 2/22 1
1-232664611-C-T c.-269-13257G>A - IntergenicSNV - 2/22 28
1-232665973-G-GCC c.-269-14621_-269-14620dup - UnclassifiedInsertion - 2/22 1
1-232665973-G-GC c.-269-14620dup - UnclassifiedInsertion - 2/22 1
1-232727151-C-T c.-318-17183G>A - IntergenicSNV - 1/22 1
1-232669231-C-T c.-269-17877G>A - IntergenicSNV - 2/22 2
1-232669272-T-A c.-269-17918A>T - IntergenicSNV - 2/22 3
1-232673235-A-T c.-269-21881T>A - IntergenicSNV - 2/22 1
1-232735234-G-A c.-318-25266C>T - IntergenicSNV - 1/22 1
1-232684139-T-C c.-270+25781A>G - intron_variant - 2/22 1
1-232684801-C-G c.-270+25119G>C - intron_variant - 2/22 1
1-232684801-C-T c.-270+25119G>A - intron_variant - 2/22 1
1-232684827-C-T c.-270+25093G>A - intron_variant - 2/22 1
1-232684859-T-C c.-270+25061A>G - intron_variant - 2/22 1
1-232693851-A-C c.-270+16069T>G - intron_variant - 2/22 1
1-232693851-A-G c.-270+16069T>C - intron_variant - 2/22 1
1-232717335-T-C c.-318-7367A>G - intron_variant - 1/22 1
1-232721837-T-A c.-318-11869A>T - intron_variant - 1/22 1
1-232721837-T-G c.-318-11869A>C - intron_variant - 1/22 1
1-232724509-A-C c.-318-14541T>G - intron_variant - 1/22 1
1-232736249-A-G c.-318-26281T>C - intron_variant - 1/22 1
1-232736520-A-C c.-318-26552T>G - intron_variant - 1/22 1
1-232736520-A-T c.-318-26552T>A - intron_variant - 1/22 1
1-232739527-C-T c.-319+26088G>A - intron_variant - 1/22 1
1-232746866-C-T c.-319+18749G>A - intron_variant - 1/22 1
1-232759071-A-G c.-319+6544T>C - intron_variant - 1/22 1
1-232759072-A-C c.-319+6543T>G - intron_variant - 1/22 1
1-232764044-T-A c.-319+1571A>T - intron_variant - 1/22 1