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 |