Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
7-11410643-A-G | c.*4778T>C | - | 3-UTRSNV | 28/28 | - | 1 |
7-11411388-T-C | c.*4033A>G | - | 3-UTRSNV | 28/28 | - | 2 |
7-11412531-C-A | c.*2890G>T | - | 3-UTRSNV | 28/28 | - | 1 |
7-11412704-G-A | c.*2717C>T | - | 3-UTRSNV | 28/28 | - | 1 |
7-11412704-G-T | c.*2717C>A | - | 3-UTRSNV | 28/28 | - | 1 |
7-11412771-A-G | c.*2650T>C | - | 3-UTRSNV | 28/28 | - | 1 |
7-11412771-A-T | c.*2650T>A | - | 3-UTRSNV | 28/28 | - | 1 |
7-11414246-C-CTTTTT | c.*1170_*1174dup | - | 3-UTRInsertion | 28/28 | - | 1 |
7-11414246-C-CTTTT | c.*1171_*1174dup | - | 3-UTRInsertion | 28/28 | - | 1 |
7-11414246-C-CTTT | c.*1172_*1174dup | - | 3-UTRInsertion | 28/28 | - | 1 |
7-11414246-C-CTTTTTTT | c.*1174_*1175insAAAAAAA | - | 3-UTRInsertion | 28/28 | - | 1 |
7-11414246-C-CTTTTTTTT | c.*1174_*1175insAAAAAAAA | - | 3-UTRInsertion | 28/28 | - | 1 |
7-11415289-T-C | c.*132A>G | - | 3-UTRSNV | 28/28 | - | 1 |
7-11415367-G-A | c.*54C>T | - | 3-UTRSNV | 28/28 | - | 1 |
7-11415426-T-C | c.4969A>G | p.M1657V | Missense | 28/28 | - | 1 |
7-11415426-T-G | c.4969A>C | p.M1657L | Missense | 28/28 | - | 1 |
7-11415429-C-T | c.4966G>A | p.D1656N | Missense | 28/28 | - | 1 |
7-11415430-G-A | c.4965C>T | p.A1655= | Synonymous | 28/28 | - | 1 |
7-11415434-T-A | c.4961A>T | p.D1654V | Missense | 28/28 | - | 2 |
7-11415435-C-A | c.4960G>T | p.D1654Y | Missense | 28/28 | - | 1 |
7-11415435-C-G | c.4960G>C | p.D1654H | Missense | 28/28 | - | 1 |
7-11415437-C-A | c.4958G>T | p.G1653V | Missense | 28/28 | - | 1 |
7-11415437-C-T | c.4958G>A | p.G1653E | Missense | 28/28 | - | 1 |
7-11415439-A-C | c.4956T>G | p.D1652E | Missense | 28/28 | - | 1 |
7-11415439-A-G | c.4956T>C | p.D1652= | Synonymous | 28/28 | - | 3 |
7-11415439-A-T | c.4956T>A | p.D1652E | Missense | 28/28 | - | 1 |
7-11415445-G-A | c.4950C>T | p.A1650= | Synonymous | 28/28 | - | 1 |
7-11415445-G-C | c.4950C>G | p.A1650= | Synonymous | 28/28 | - | 1 |
7-11415445-G-T | c.4950C>A | p.A1650= | Synonymous | 28/28 | - | 1 |
7-11415446-G-A | c.4949C>T | p.A1650V | Missense | 28/28 | - | 4 |
7-11415450-A-C | c.4945T>G | p.L1649V | Missense | 28/28 | - | 2 |
7-11415450-A-T | c.4945T>A | p.L1649I | Missense | 28/28 | - | 1 |
7-11415452-G-A | c.4943C>T | p.T1648I | Missense | 28/28 | - | 2 |
7-11415452-G-C | c.4943C>G | p.T1648S | Missense | 28/28 | - | 1 |
7-11415458-G-T | c.4937C>A | p.P1646H | Missense | 28/28 | - | 1 |
7-11415460-T-A | c.4935A>T | p.K1645N | Missense | 28/28 | - | 1 |
7-11415460-T-G | c.4935A>C | p.K1645N | Missense | 28/28 | - | 1 |
7-11415463-C-A | c.4932G>T | p.L1644= | Synonymous | 28/28 | - | 2 |
7-11415463-C-G | c.4932G>C | p.L1644= | Synonymous | 28/28 | - | 1 |
7-11415463-C-T | c.4932G>A | p.L1644= | Synonymous | 28/28 | - | 1 |
7-11415465-G-A | c.4930C>T | p.L1644= | Synonymous | 28/28 | - | 1 |
7-11415465-G-T | c.4930C>A | p.L1644M | Missense | 28/28 | - | 2 |
7-11415466-T-A | c.4929A>T | p.R1643= | Synonymous | 28/28 | - | 2 |
7-11415467-C-T | c.4928G>A | p.R1643Q | Missense | 28/28 | - | 2 |
7-11415468-G-T | c.4927C>A | p.R1643= | Synonymous | 28/28 | - | 1 |
7-11415470-T-C | c.4925A>G | p.N1642S | Missense | 28/28 | - | 1 |
7-11415475-T-A | c.4920A>T | p.Q1640H | Missense | 28/28 | - | 2 |
7-11415475-T-G | c.4920A>C | p.Q1640H | Missense | 28/28 | - | 1 |
7-11415477-G-C | c.4918C>G | p.Q1640E | Missense | 28/28 | - | 1 |
7-11415478-CCT-ACA | c.4915_4917delinsTGT | p.R1639C | Missense | 28/28 | - | 1 |
7-11415479-C-A | c.4916G>T | p.R1639M | Missense | 28/28 | - | 1 |
7-11415481-T-C | c.4914A>G | p.R1638= | Synonymous | 28/28 | - | 1 |
7-11415482-C-A | c.4913G>T | p.R1638I | Missense | 28/28 | - | 3 |
7-11415486-G-A | c.4909C>T | p.Q1637* | Nonsense | 28/28 | - | 1 |
7-11415486-G-T | c.4909C>A | p.Q1637K | Missense | 28/28 | - | 2 |
7-11415487-G-A | c.4908C>T | p.P1636= | Synonymous | 28/28 | - | 3 |
7-11415488-G-A | c.4907C>T | p.P1636L | Missense | 28/28 | - | 7 |
7-11415490-T-C | c.4905A>G | p.K1635= | Synonymous | 28/28 | - | 2 |
7-11415494-T-C | c.4901A>G | p.K1634R | Missense | 28/28 | - | 1 |
7-11415495-T-C | c.4900A>G | p.K1634E | Missense | 28/28 | - | 2 |
7-11415497-G-T | c.4898C>A | p.P1633Q | Missense | 28/28 | - | 1 |
7-11415498-G-A | c.4897C>T | p.P1633S | Missense | 28/28 | - | 2 |
7-11415500-T-C | c.4895A>G | p.K1632R | Missense | 28/28 | - | 1 |
7-11415500-T-G | c.4895A>C | p.K1632T | Missense | 28/28 | - | 1 |
7-11415505-G-T | c.4890C>A | p.C1630* | Nonsense | 28/28 | - | 1 |
7-11416199-A-C | c.4887T>G | p.A1629= | Synonymous | 27/28 | - | 1 |
7-11416199-A-G | c.4887T>C | p.A1629= | Synonymous | 27/28 | - | 1 |
7-11416199-A-T | c.4887T>A | p.A1629= | Synonymous | 27/28 | - | 2 |
7-11416203-A-G | c.4883T>C | p.L1628P | Missense | 27/28 | - | 1 |
7-11416211-C-A | c.4875G>T | p.M1625I | Missense | 27/28 | - | 2 |
7-11416211-C-G | c.4875G>C | p.M1625I | Missense | 27/28 | - | 2 |
7-11416211-C-T | c.4875G>A | p.M1625I | Missense | 27/28 | - | 5 |
7-11416215-G-A | c.4871C>T | p.S1624F | Missense | 27/28 | - | 1 |
7-11416215-G-C | c.4871C>G | p.S1624C | Missense | 27/28 | - | 2 |
7-11416217-G-A | c.4869C>T | p.V1623= | Synonymous | 27/28 | - | 2 |
7-11416222-T-A | c.4864A>T | p.I1622F | Missense | 27/28 | - | 1 |
7-11416222-T-C | c.4864A>G | p.I1622V | Missense | 27/28 | - | 1 |
7-11416226-G-A | c.4860C>T | p.I1620= | Synonymous | 27/28 | - | 1 |
7-11416229-G-C | c.4857C>G | p.L1619= | Synonymous | 27/28 | - | 4 |
7-11416251-G-A | c.4835C>T | p.A1612V | Missense | 27/28 | - | 1 |
7-11416254-A-C | c.4832T>G | p.V1611G | Missense | 27/28 | - | 3 |
7-11416258-C-T | c.4828G>A | p.G1610S | Missense | 27/28 | - | 3 |
7-11416259-G-A | c.4827C>T | p.Y1609= | Synonymous | 27/28 | - | 2 |
7-11416260-T-C | c.4826A>G | p.Y1609C | Missense | 27/28 | - | 2 |
7-11416265-C-A | c.4821G>T | p.W1607C | Missense | 27/28 | - | 1 |
7-11416268-G-A | c.4818C>T | p.T1606= | Synonymous | 27/28 | - | 3 |
7-11416274-T-A | c.4812A>T | p.L1604= | Synonymous | 27/28 | - | 1 |
7-11416274-T-C | c.4812A>G | p.L1604= | Synonymous | 27/28 | - | 2 |
7-11416274-T-G | c.4812A>C | p.L1604= | Synonymous | 27/28 | - | 1 |
7-11416276-G-A | c.4810C>T | p.L1604= | Synonymous | 27/28 | - | 1 |
7-11416278-C-G | c.4808G>C | p.R1603T | Missense | 27/28 | - | 3 |
7-11416278-C-T | c.4808G>A | p.R1603K | Missense | 27/28 | - | 2 |
7-11416281-C-G | c.4805G>C | p.G1602A | Missense | 27/28 | - | 1 |
7-11416284-T-A | c.4802A>T | p.D1601V | Missense | 27/28 | - | 2 |
7-11416378-A-G | c.4802-94T>C | - | IntronicSNV | - | 26/27 | 4 |
7-11416507-A-T | c.4802-223T>A | - | IntronicSNV | - | 26/27 | 1 |
7-11418181-T-C | c.4801+516A>G | - | IntronicSNV | - | 26/27 | 1 |
7-11418528-T-C | c.4801+169A>G | - | IntronicSNV | - | 26/27 | 1 |
7-11418670-C-A | c.4801+27G>T | - | IntronicSNV | - | 26/27 | 4 |
7-11418670-C-G | c.4801+27G>C | - | IntronicSNV | - | 26/27 | 3 |
7-11418695-A-G | c.4801+2T>C | - | IntronicSNV | - | 26/27 | 1 |
7-11418699-G-A | c.4799C>T | p.P1600L | Missense | 26/28 | - | 1 |
7-11418702-C-T | c.4796G>A | p.G1599E | Missense | 26/28 | - | 5 |
7-11418700-GC-G | c.4797del | p.P1600Qfs*5 | Frameshift | 26/28 | - | 1 |
7-11418707-T-A | c.4791A>T | p.P1597= | Synonymous | 26/28 | - | 1 |
7-11418707-T-C | c.4791A>G | p.P1597= | Synonymous | 26/28 | - | 1 |
7-11418707-T-G | c.4791A>C | p.P1597= | Synonymous | 26/28 | - | 1 |
7-11418708-G-T | c.4790C>A | p.P1597Q | Missense | 26/28 | - | 2 |
7-11418709-G-A | c.4789C>T | p.P1597S | Missense | 26/28 | - | 4 |
7-11418710-C-T | c.4788G>A | p.Q1596= | Synonymous | 26/28 | - | 1 |
7-11418712-G-A | c.4786C>T | p.Q1596* | Nonsense | 26/28 | - | 1 |
7-11418714-A-G | c.4784T>C | p.L1595P | Missense | 26/28 | - | 1 |
7-11418719-C-T | c.4779G>A | p.W1593* | Nonsense | 26/28 | - | 1 |
7-11418720-C-T | c.4778G>A | p.W1593* | Nonsense | 26/28 | - | 1 |
7-11418726-C-T | c.4772G>A | p.R1591K | Missense | 26/28 | - | 1 |
7-11418727-T-C | c.4771A>G | p.R1591G | Missense | 26/28 | - | 1 |
7-11418726-C-CT | c.4771dup | p.R1591Kfs*62 | Frameshift | 26/28 | - | 2 |
7-11418729-C-T | c.4769G>A | p.G1590E | Missense | 26/28 | - | 1 |
7-11418730-C-G | c.4768G>C | p.G1590R | Missense | 26/28 | - | 2 |
7-11418730-C-T | c.4768G>A | p.G1590R | Missense | 26/28 | - | 1 |
7-11418731-C-A | c.4767G>T | p.R1589= | Synonymous | 26/28 | - | 1 |
7-11418728-T-TC | c.4769dup | p.R1591Kfs*62 | Frameshift | 26/28 | - | 1 |
7-11418732-C-T | c.4766G>A | p.R1589Q | Missense | 26/28 | - | 1 |
7-11418733-G-A | c.4765C>T | p.R1589W | Missense | 26/28 | - | 3 |
7-11418736-C-G | c.4762G>C | p.G1588R | Missense | 26/28 | - | 2 |
7-11418736-C-T | c.4762G>A | p.G1588R | Missense | 26/28 | - | 2 |
7-11418740-T-A | c.4758A>T | p.P1586= | Synonymous | 26/28 | - | 2 |
7-11418740-T-C | c.4758A>G | p.P1586= | Synonymous | 26/28 | - | 2 |
7-11418740-T-G | c.4758A>C | p.P1586= | Synonymous | 26/28 | - | 3 |
7-11418742-G-A | c.4756C>T | p.P1586S | Missense | 26/28 | - | 2 |
7-11418747-C-G | c.4751G>C | p.S1584T | Missense | 26/28 | - | 2 |
7-11418752-G-A | c.4746C>T | p.P1582= | Synonymous | 26/28 | - | 2 |
7-11418752-G-C | c.4746C>G | p.P1582= | Synonymous | 26/28 | - | 2 |
7-11418752-G-T | c.4746C>A | p.P1582= | Synonymous | 26/28 | - | 2 |
7-11418755-T-C | c.4743A>G | p.Q1581= | Synonymous | 26/28 | - | 1 |
7-11418760-T-C | c.4738A>G | p.T1580A | Missense | 26/28 | - | 1 |
7-11418763-G-C | c.4735C>G | p.P1579A | Missense | 26/28 | - | 1 |
7-11418771-G-A | c.4727C>T | p.A1576V | Missense | 26/28 | - | 1 |
7-11418775-G-A | c.4723C>T | p.R1575W | Missense | 26/28 | - | 3 |
7-11418777-C-A | c.4721G>T | p.S1574I | Missense | 26/28 | - | 1 |
7-11418785-C-T | c.4713G>A | p.V1571= | Synonymous | 26/28 | - | 1 |
7-11418786-A-G | c.4712T>C | p.V1571A | Missense | 26/28 | - | 4 |
7-11418790-C-A | c.4708G>T | p.D1570Y | Missense | 26/28 | - | 1 |
7-11418790-C-T | c.4708G>A | p.D1570N | Missense | 26/28 | - | 2 |
7-11418795-C-G | c.4703G>C | p.R1568T | Missense | 26/28 | - | 3 |
7-11418795-C-T | c.4703G>A | p.R1568K | Missense | 26/28 | - | 1 |
7-11418796-T-C | c.4702A>G | p.R1568G | Missense | 26/28 | - | 1 |
7-11418802-C-A | c.4696G>T | p.D1566Y | Missense | 26/28 | - | 1 |
7-11418803-C-A | c.4695G>T | p.E1565D | Missense | 26/28 | - | 1 |
7-11418805-C-T | c.4693G>A | p.E1565K | Missense | 26/28 | - | 3 |
7-11418810-G-A | c.4688C>T | p.T1563I | Missense | 26/28 | - | 2 |
7-11418810-G-T | c.4688C>A | p.T1563N | Missense | 26/28 | - | 1 |
7-11418814-G-T | c.4684C>A | p.P1562T | Missense | 26/28 | - | 1 |
7-11418819-A-G | c.4679T>C | p.V1560A | Missense | 26/28 | - | 1 |
7-11418824-C-T | c.4674G>A | p.V1558= | Synonymous | 26/28 | - | 1 |
7-11418826-C-A | c.4672G>T | p.V1558L | Missense | 26/28 | - | 1 |
7-11418826-C-T | c.4672G>A | p.V1558M | Missense | 26/28 | - | 1 |
7-11418827-G-A | c.4671C>T | p.P1557= | Synonymous | 26/28 | - | 1 |
7-11418827-G-C | c.4671C>G | p.P1557= | Synonymous | 26/28 | - | 1 |
7-11418827-G-T | c.4671C>A | p.P1557= | Synonymous | 26/28 | - | 1 |
7-11418829-G-A | c.4669C>T | p.P1557S | Missense | 26/28 | - | 2 |
7-11418833-A-C | c.4665T>G | p.L1555= | Synonymous | 26/28 | - | 1 |
7-11418833-A-G | c.4665T>C | p.L1555= | Synonymous | 26/28 | - | 1 |
7-11418833-A-T | c.4665T>A | p.L1555= | Synonymous | 26/28 | - | 1 |
7-11418835-G-A | c.4663C>T | p.L1555F | Missense | 26/28 | - | 1 |
7-11418838-T-A | c.4660A>T | p.T1554S | Missense | 26/28 | - | 1 |
7-11418847-C-T | c.4651G>A | p.E1551K | Missense | 26/28 | - | 1 |
7-11418849-A-G | c.4649T>C | p.L1550P | Missense | 26/28 | - | 3 |
7-11418860-A-G | c.4638T>C | p.S1546= | Synonymous | 26/28 | - | 1 |
7-11418869-G-A | c.4629C>T | p.V1543= | Synonymous | 26/28 | - | 1 |
7-11418869-G-C | c.4629C>G | p.V1543= | Synonymous | 26/28 | - | 1 |
7-11418869-G-T | c.4629C>A | p.V1543= | Synonymous | 26/28 | - | 2 |
7-11418873-T-C | c.4625A>G | p.E1542G | Missense | 26/28 | - | 4 |
7-11418876-G-A | c.4622C>T | p.T1541I | Missense | 26/28 | - | 1 |
7-11418879-T-C | c.4619A>G | p.Y1540C | Missense | 26/28 | - | 1 |
7-11418880-A-T | c.4618T>A | p.Y1540N | Missense | 26/28 | - | 2 |
7-11418883-C-G | c.4615G>C | p.G1539R | Missense | 26/28 | - | 1 |
7-11418883-C-T | c.4615G>A | p.G1539R | Missense | 26/28 | - | 1 |
7-11418886-C-A | c.4612G>T | p.E1538* | Nonsense | 26/28 | - | 1 |
7-11418888-T-G | c.4610A>C | p.E1537A | Missense | 26/28 | - | 1 |
7-11418889-C-T | c.4609G>A | p.E1537K | Missense | 26/28 | - | 5 |
7-11418892-A-T | c.4606T>A | p.C1536S | Missense | 26/28 | - | 1 |
7-11418896-G-C | c.4602C>G | p.C1534W | Missense | 26/28 | - | 1 |
7-11418900-G-A | c.4598C>T | p.T1533I | Missense | 26/28 | - | 1 |
7-11418900-G-T | c.4598C>A | p.T1533K | Missense | 26/28 | - | 2 |
7-11418901-T-G | c.4597A>C | p.T1533P | Missense | 26/28 | - | 1 |
7-11418906-G-C | c.4592C>G | p.T1531R | Missense | 26/28 | - | 1 |
7-11418931-T-C | c.4591-24A>G | - | IntronicSNV | - | 25/27 | 6 |
7-11419104-G-T | c.4590+153C>A | - | IntronicSNV | - | 25/27 | 3 |
7-11419257-C-A | c.4590G>T | p.E1530D | Missense | 25/28 | - | 1 |
7-11419257-C-G | c.4590G>C | p.E1530D | Missense | 25/28 | - | 1 |
7-11419259-C-T | c.4588G>A | p.E1530K | Missense | 25/28 | - | 1 |
7-11419260-G-A | c.4587C>T | p.S1529= | Synonymous | 25/28 | - | 1 |
7-11419267-T-A | c.4580A>T | p.Y1527F | Missense | 25/28 | - | 1 |
7-11419267-T-G | c.4580A>C | p.Y1527S | Missense | 25/28 | - | 1 |
7-11419269-C-G | c.4578G>C | p.S1526= | Synonymous | 25/28 | - | 1 |
7-11419270-G-A | c.4577C>T | p.S1526L | Missense | 25/28 | - | 2 |
7-11419271-A-T | c.4576T>A | p.S1526T | Missense | 25/28 | - | 2 |
7-11419280-G-T | c.4567C>A | p.Q1523K | Missense | 25/28 | - | 1 |
7-11419281-A-G | c.4566T>C | p.S1522= | Synonymous | 25/28 | - | 1 |
7-11419283-T-C | c.4564A>G | p.S1522G | Missense | 25/28 | - | 3 |
7-11419287-C-A | c.4560G>T | p.P1520= | Synonymous | 25/28 | - | 1 |
7-11419287-C-G | c.4560G>C | p.P1520= | Synonymous | 25/28 | - | 1 |
7-11419287-C-T | c.4560G>A | p.P1520= | Synonymous | 25/28 | - | 2 |
7-11419288-G-A | c.4559C>T | p.P1520L | Missense | 25/28 | - | 1 |
7-11419301-A-T | c.4546T>A | p.S1516T | Missense | 25/28 | - | 1 |
7-11419305-G-A | c.4542C>T | p.D1514= | Synonymous | 25/28 | - | 2 |
7-11419307-C-A | c.4540G>T | p.D1514Y | Missense | 25/28 | - | 3 |
7-11419307-C-T | c.4540G>A | p.D1514N | Missense | 25/28 | - | 2 |
7-11419308-G-A | c.4539C>T | p.A1513= | Synonymous | 25/28 | - | 4 |
7-11419308-G-C | c.4539C>G | p.A1513= | Synonymous | 25/28 | - | 2 |
7-11419308-G-T | c.4539C>A | p.A1513= | Synonymous | 25/28 | - | 2 |
7-11419307-CG-C | c.4539del | p.D1514Tfs*58 | Frameshift | 25/28 | - | 1 |
7-11419310-C-G | c.4537G>C | p.A1513P | Missense | 25/28 | - | 1 |
7-11419311-A-T | c.4536T>A | p.D1512E | Missense | 25/28 | - | 1 |
7-11419317-C-A | c.4530G>T | p.Q1510H | Missense | 25/28 | - | 2 |
7-11419317-C-G | c.4530G>C | p.Q1510H | Missense | 25/28 | - | 1 |
7-11419318-T-A | c.4529A>T | p.Q1510L | Missense | 25/28 | - | 1 |
7-11419327-A-G | c.4520T>C | p.V1507A | Missense | 25/28 | - | 1 |
7-11419336-C-A | c.4511G>T | p.G1504V | Missense | 25/28 | - | 1 |
7-11419336-C-T | c.4511G>A | p.G1504D | Missense | 25/28 | - | 1 |
7-11419337-C-G | c.4510G>C | p.G1504R | Missense | 25/28 | - | 1 |
7-11419337-C-T | c.4510G>A | p.G1504S | Missense | 25/28 | - | 2 |
7-11419338-C-A | c.4509G>T | p.G1503= | Synonymous | 25/28 | - | 1 |
7-11419338-C-G | c.4509G>C | p.G1503= | Synonymous | 25/28 | - | 1 |
7-11419338-C-T | c.4509G>A | p.G1503= | Synonymous | 25/28 | - | 2 |
7-11419378-T-C | c.4508-39A>G | - | IntronicSNV | - | 24/27 | 6 |
7-11420981-T-C | c.4507+1167A>G | - | IntronicSNV | - | 24/27 | 1 |
7-11421689-C-A | c.4507+459G>T | - | IntronicSNV | - | 24/27 | 1 |
7-11422150-G-A | c.4505C>T | p.T1502I | Missense | 24/28 | - | 3 |
7-11422161-A-C | c.4494T>G | p.G1498= | Synonymous | 24/28 | - | 1 |
7-11422161-A-G | c.4494T>C | p.G1498= | Synonymous | 24/28 | - | 1 |
7-11422161-A-T | c.4494T>A | p.G1498= | Synonymous | 24/28 | - | 1 |
7-11422162-C-T | c.4493G>A | p.G1498D | Missense | 24/28 | - | 3 |
7-11422165-T-G | c.4490A>C | p.D1497A | Missense | 24/28 | - | 1 |
7-11422168-G-C | c.4487C>G | p.S1496* | Nonsense | 24/28 | - | 1 |
7-11422168-G-T | c.4487C>A | p.S1496* | Nonsense | 24/28 | - | 2 |
7-11422170-C-G | c.4485G>C | p.R1495S | Missense | 24/28 | - | 1 |
7-11422171-C-A | c.4484G>T | p.R1495M | Missense | 24/28 | - | 1 |
7-11422171-C-T | c.4484G>A | p.R1495K | Missense | 24/28 | - | 1 |
7-11422175-G-C | c.4480C>G | p.Q1494E | Missense | 24/28 | - | 1 |
7-11422173-TTGACACCACAC-T | c.4471_4481del | p.V1491Kfs*18 | Frameshift | 24/28 | - | 1 |
7-11422184-C-A | c.4471G>T | p.V1491L | Missense | 24/28 | - | 2 |
7-11422184-C-G | c.4471G>C | p.V1491L | Missense | 24/28 | - | 3 |
7-11422186-G-A | c.4469C>T | p.T1490I | Missense | 24/28 | - | 4 |
7-11422188-TCG-ACA | c.4465_4467delinsTGT | p.R1489C | Missense | 24/28 | - | 1 |
7-11422189-C-T | c.4466G>A | p.R1489Q | Missense | 24/28 | - | 2 |
7-11422190-G-A | c.4465C>T | p.R1489* | Nonsense | 24/28 | - | 1 |
7-11422192-G-T | c.4463C>A | p.S1488Y | Missense | 24/28 | - | 1 |
7-11422200-C-T | c.4455G>A | p.K1485= | Synonymous | 24/28 | - | 2 |
7-11422203-C-T | c.4452G>A | p.W1484* | Nonsense | 24/28 | - | 1 |
7-11422208-C-A | c.4447G>T | p.A1483S | Missense | 24/28 | - | 1 |
7-11422213-G-A | c.4442C>T | p.A1481V | Missense | 24/28 | - | 2 |
7-11422218-C-T | c.4437G>A | p.W1479* | Nonsense | 24/28 | - | 3 |
7-11422219-C-T | c.4436G>A | p.W1479* | Nonsense | 24/28 | - | 3 |
7-11422229-C-G | c.4426G>C | p.E1476Q | Missense | 24/28 | - | 1 |
7-11422233-G-C | c.4422C>G | p.C1474W | Missense | 24/28 | - | 1 |
7-11422234-C-T | c.4421G>A | p.C1474Y | Missense | 24/28 | - | 1 |
7-11422235-A-C | c.4420T>G | p.C1474G | Missense | 24/28 | - | 1 |
7-11422240-C-T | c.4415G>A | p.G1472E | Missense | 24/28 | - | 1 |
7-11422241-C-G | c.4414G>C | p.G1472R | Missense | 24/28 | - | 1 |
7-11422241-C-T | c.4414G>A | p.G1472R | Missense | 24/28 | - | 1 |
7-11432157-C-A | c.4411+9265G>T | - | IntronicSNV | - | 23/27 | 1 |
7-11432157-C-T | c.4411+9265G>A | - | IntronicSNV | - | 23/27 | 1 |
7-11433422-G-T | c.4411+8000C>A | - | IntronicSNV | - | 23/27 | 1 |
7-11436354-C-A | c.4411+5068G>T | - | IntronicSNV | - | 23/27 | 1 |
7-11436425-G-A | c.4411+4997C>T | - | IntronicSNV | - | 23/27 | 1 |
7-11437377-A-G | c.4411+4045T>C | - | IntronicSNV | - | 23/27 | 1 |
7-11438914-G-C | c.4411+2508C>G | - | IntronicSNV | - | 23/27 | 1 |
7-11441207-AT-A | c.4411+214del | - | IntronicDeletion | - | 23/27 | 1 |
7-11441358-A-T | c.4411+64T>A | - | IntronicSNV | - | 23/27 | 3 |
7-11441363-AT-A | c.4411+58del | - | IntronicDeletion | - | 23/27 | 1 |
7-11441426-A-G | c.4407T>C | p.C1469= | Synonymous | 23/28 | - | 1 |
7-11441430-G-A | c.4403C>T | p.S1468L | Missense | 23/28 | - | 3 |
7-11441431-A-C | c.4402T>G | p.S1468A | Missense | 23/28 | - | 1 |
7-11441433-T-A | c.4400A>T | p.K1467I | Missense | 23/28 | - | 1 |
7-11441433-T-G | c.4400A>C | p.K1467T | Missense | 23/28 | - | 3 |
7-11441438-T-G | c.4395A>C | p.E1465D | Missense | 23/28 | - | 1 |
7-11441440-C-G | c.4393G>C | p.E1465Q | Missense | 23/28 | - | 1 |
7-11441441-T-C | c.4392A>G | p.L1464= | Synonymous | 23/28 | - | 1 |
7-11441443-A-G | c.4390T>C | p.L1464= | Synonymous | 23/28 | - | 1 |
7-11441447-C-A | c.4386G>T | p.Q1462H | Missense | 23/28 | - | 1 |
7-11441449-G-T | c.4384C>A | p.Q1462K | Missense | 23/28 | - | 1 |
7-11441455-G-T | c.4378C>A | p.P1460T | Missense | 23/28 | - | 1 |
7-11441457-CA-GT | c.4375_4376delinsAC | p.C1459T | Missense | 23/28 | - | 1 |
7-11441457-C-G | c.4376G>C | p.C1459S | Missense | 23/28 | - | 1 |
7-11441461-G-A | c.4372C>T | p.L1458= | Synonymous | 23/28 | - | 1 |
7-11441465-C-A | c.4368G>T | p.Q1456H | Missense | 23/28 | - | 1 |
7-11441465-C-G | c.4368G>C | p.Q1456H | Missense | 23/28 | - | 1 |
7-11441466-T-C | c.4367A>G | p.Q1456R | Missense | 23/28 | - | 1 |
7-11441471-C-G | c.4362G>C | p.E1454D | Missense | 23/28 | - | 1 |
7-11441484-A-G | c.4349T>C | p.I1450T | Missense | 23/28 | - | 1 |
7-11441485-T-A | c.4348A>T | p.I1450L | Missense | 23/28 | - | 1 |
7-11441485-T-G | c.4348A>C | p.I1450L | Missense | 23/28 | - | 1 |
7-11441487-A-G | c.4346T>C | p.I1449T | Missense | 23/28 | - | 1 |
7-11441488-T-G | c.4345A>C | p.I1449L | Missense | 23/28 | - | 1 |
7-11441492-C-A | c.4341G>T | p.P1447= | Synonymous | 23/28 | - | 1 |
7-11441492-C-G | c.4341G>C | p.P1447= | Synonymous | 23/28 | - | 1 |
7-11441492-C-T | c.4341G>A | p.P1447= | Synonymous | 23/28 | - | 2 |
7-11441494-G-T | c.4339C>A | p.P1447T | Missense | 23/28 | - | 2 |
7-11441496-C-A | c.4337G>T | p.R1446I | Missense | 23/28 | - | 1 |
7-11441499-G-A | c.4334C>T | p.S1445F | Missense | 23/28 | - | 1 |
7-11441502-C-T | c.4331G>A | p.R1444K | Missense | 23/28 | - | 1 |
7-11441506-C-G | c.4327G>C | p.V1443L | Missense | 23/28 | - | 1 |
7-11441507-C-T | c.4326G>A | p.Q1442= | Synonymous | 23/28 | - | 3 |
7-11441509-G-A | c.4324C>T | p.Q1442* | Nonsense | 23/28 | - | 1 |
7-11441511-AT-A | c.4321del | p.I1441Yfs*8 | Frameshift | 23/28 | - | 1 |
7-11441514-C-T | c.4319G>A | p.G1440E | Missense | 23/28 | - | 1 |
7-11441515-C-T | c.4318G>A | p.G1440R | Missense | 23/28 | - | 3 |
7-11441518-C-T | c.4315G>A | p.G1439S | Missense | 23/28 | - | 1 |
7-11441521-A-G | c.4312T>C | p.F1438L | Missense | 23/28 | - | 1 |
7-11441524-CCTA-C | c.4307_4309del | p.L1436_G1437delinsR | MultiAAMissense | 23/28 | - | 1 |
7-11441528-A-T | c.4305T>A | p.D1435E | Missense | 23/28 | - | 1 |
7-11441529-T-A | c.4304A>T | p.D1435V | Missense | 23/28 | - | 1 |
7-11441533-C-T | c.4300G>A | p.E1434K | Missense | 23/28 | - | 1 |
7-11441535-C-A | c.4298G>T | p.G1433V | Missense | 23/28 | - | 1 |
7-11441536-C-A | c.4297G>T | p.G1433C | Missense | 23/28 | - | 1 |
7-11441543-A-G | c.4290T>C | p.C1430= | Synonymous | 23/28 | - | 2 |
7-11441547-G-A | c.4286C>T | p.T1429I | Missense | 23/28 | - | 1 |
7-11441551-G-T | c.4282C>A | p.L1428M | Missense | 23/28 | - | 1 |
7-11441554-G-A | c.4279C>T | p.Q1427* | Nonsense | 23/28 | - | 1 |
7-11441558-C-T | c.4275G>A | p.L1425= | Synonymous | 23/28 | - | 1 |
7-11441561-G-C | c.4272C>G | p.S1424R | Missense | 23/28 | - | 1 |
7-11441561-G-T | c.4272C>A | p.S1424R | Missense | 23/28 | - | 1 |
7-11441563-T-G | c.4270A>C | p.S1424R | Missense | 23/28 | - | 1 |
7-11441564-C-T | c.4269G>A | p.W1423* | Nonsense | 23/28 | - | 1 |
7-11441568-G-A | c.4265C>T | p.S1422F | Missense | 23/28 | - | 2 |
7-11441568-G-T | c.4265C>A | p.S1422Y | Missense | 23/28 | - | 2 |
7-11441571-G-T | c.4262C>A | p.S1421Y | Missense | 23/28 | - | 1 |
7-11441579-C-T | c.4254G>A | p.K1418= | Synonymous | 23/28 | - | 1 |
7-11441582-C-G | c.4251G>C | p.L1417F | Missense | 23/28 | - | 1 |
7-11441585-A-G | c.4248T>C | p.Y1416= | Synonymous | 23/28 | - | 2 |
7-11441585-A-T | c.4248T>A | p.Y1416* | Nonsense | 23/28 | - | 2 |
7-11441589-C-G | c.4244G>C | p.C1415S | Missense | 23/28 | - | 1 |
7-11441590-A-T | c.4243T>A | p.C1415S | Missense | 23/28 | - | 1 |
7-11441595-C-T | c.4238G>A | p.G1413D | Missense | 23/28 | - | 1 |
7-11441700-G-A | c.4238-105C>T | - | IntronicSNV | - | 22/27 | 3 |
7-11441700-G-T | c.4238-105C>A | - | IntronicSNV | - | 22/27 | 3 |
7-11445927-C-T | c.4237G>A | p.G1413S | Missense | 22/28 | - | 5 |
7-11445931-G-T | c.4233C>A | p.C1411* | Nonsense | 22/28 | - | 3 |
7-11445933-A-G | c.4231T>C | p.C1411R | Missense | 22/28 | - | 1 |
7-11445940-G-T | c.4224C>A | p.S1408R | Missense | 22/28 | - | 1 |
7-11445943-G-T | c.4221C>A | p.C1407* | Nonsense | 22/28 | - | 1 |
7-11445947-G-A | c.4217C>T | p.S1406F | Missense | 22/28 | - | 3 |
7-11445951-C-T | c.4213G>A | p.E1405K | Missense | 22/28 | - | 6 |
7-11445955-CAG-GAT | c.4207_4209delinsATC | p.L1403I | Missense | 22/28 | - | 1 |
7-11445957-G-C | c.4207C>G | p.L1403V | Missense | 22/28 | - | 1 |
7-11445957-G-T | c.4207C>A | p.L1403M | Missense | 22/28 | - | 1 |
7-11445961-C-A | c.4203G>T | p.M1401I | Missense | 22/28 | - | 2 |
7-11445961-C-G | c.4203G>C | p.M1401I | Missense | 22/28 | - | 1 |
7-11445961-C-T | c.4203G>A | p.M1401I | Missense | 22/28 | - | 1 |
7-11445965-T-C | c.4199A>G | p.N1400S | Missense | 22/28 | - | 3 |
7-11445972-T-G | c.4192A>C | p.N1398H | Missense | 22/28 | - | 1 |
7-11445978-C-A | c.4186G>T | p.D1396Y | Missense | 22/28 | - | 1 |
7-11445979-T-C | c.4185A>G | p.I1395M | Missense | 22/28 | - | 1 |
7-11445983-A-G | c.4181T>C | p.I1394T | Missense | 22/28 | - | 1 |
7-11445985-G-A | c.4179C>T | p.L1393= | Synonymous | 22/28 | - | 1 |
7-11445985-G-C | c.4179C>G | p.L1393= | Synonymous | 22/28 | - | 1 |
7-11445985-G-T | c.4179C>A | p.L1393= | Synonymous | 22/28 | - | 1 |
7-11445990-C-A | c.4174G>T | p.E1392* | Nonsense | 22/28 | - | 2 |
7-11445992-A-T | c.4172T>A | p.I1391N | Missense | 22/28 | - | 1 |
7-11445994-G-A | c.4170C>T | p.D1390= | Synonymous | 22/28 | - | 1 |
7-11445998-G-C | c.4166C>G | p.A1389G | Missense | 22/28 | - | 1 |
7-11445999-C-G | c.4165G>C | p.A1389P | Missense | 22/28 | - | 1 |
7-11446000-A-G | c.4164T>C | p.C1388= | Synonymous | 22/28 | - | 3 |
7-11446002-A-C | c.4162T>G | p.C1388G | Missense | 22/28 | - | 1 |
7-11446003-G-C | c.4161C>G | p.F1387L | Missense | 22/28 | - | 1 |
7-11446008-C-T | c.4156G>A | p.E1386K | Missense | 22/28 | - | 5 |
7-11446009-C-T | c.4155G>A | p.E1385= | Synonymous | 22/28 | - | 1 |
7-11446011-C-T | c.4153G>A | p.E1385K | Missense | 22/28 | - | 1 |
7-11446024-G-A | c.4140C>T | p.S1380= | Synonymous | 22/28 | - | 1 |
7-11446027-G-A | c.4137C>T | p.F1379= | Synonymous | 22/28 | - | 2 |
7-11446040-G-T | c.4124C>A | p.S1375* | Nonsense | 22/28 | - | 1 |
7-11446051-T-C | c.4113A>G | p.V1371= | Synonymous | 22/28 | - | 1 |
7-11446058-C-T | c.4106G>A | p.C1369Y | Missense | 22/28 | - | 1 |
7-11446058-C-CA | c.4105dup | p.C1369Lfs*5 | Frameshift | 22/28 | - | 2 |
7-11446061-G-A | c.4103C>T | p.S1368F | Missense | 22/28 | - | 3 |
7-11446061-G-T | c.4103C>A | p.S1368Y | Missense | 22/28 | - | 1 |
7-11446067-T-A | c.4097A>T | p.N1366I | Missense | 22/28 | - | 1 |
7-11446078-G-A | c.4086C>T | p.T1362= | Synonymous | 22/28 | - | 1 |
7-11446080-T-G | c.4084A>C | p.T1362P | Missense | 22/28 | - | 1 |
7-11446082-C-T | c.4082G>A | p.G1361E | Missense | 22/28 | - | 1 |
7-11446087-T-A | c.4077A>T | p.G1359= | Synonymous | 22/28 | - | 1 |
7-11446087-T-C | c.4077A>G | p.G1359= | Synonymous | 22/28 | - | 1 |
7-11446087-T-G | c.4077A>C | p.G1359= | Synonymous | 22/28 | - | 1 |
7-11446096-G-A | c.4068C>T | p.A1356= | Synonymous | 22/28 | - | 1 |
7-11446096-G-C | c.4068C>G | p.A1356= | Synonymous | 22/28 | - | 1 |
7-11446096-G-T | c.4068C>A | p.A1356= | Synonymous | 22/28 | - | 2 |
7-11446524-T-G | c.4062+13A>C | - | IntronicSNV | - | 21/27 | 1 |
7-11446535-A-G | c.4062+2T>C | - | IntronicSNV | - | 21/27 | 1 |
7-11446536-C-A | c.4062+1G>T | - | IntronicSNV | - | 21/27 | 1 |
7-11446542-C-T | c.4057G>A | p.V1353M | Missense | 21/28 | - | 1 |
7-11446551-G-A | c.4048C>T | p.P1350S | Missense | 21/28 | - | 1 |
7-11446553-G-T | c.4046C>A | p.S1349Y | Missense | 21/28 | - | 2 |
7-11446558-CTGGCCATATTGCCACCGATAACAAGGCT-C | c.4013_4040del | p.K1338Sfs*24 | Frameshift | 21/28 | - | 1 |
7-11446574-C-T | c.4025G>A | p.R1342Q | Missense | 21/28 | - | 3 |
7-11446575-G-A | c.4024C>T | p.R1342W | Missense | 21/28 | - | 4 |
7-11446588-C-A | c.4011G>T | p.V1337= | Synonymous | 21/28 | - | 1 |
7-11446588-C-G | c.4011G>C | p.V1337= | Synonymous | 21/28 | - | 1 |
7-11446588-C-T | c.4011G>A | p.V1337= | Synonymous | 21/28 | - | 1 |
7-11446590-C-T | c.4009G>A | p.V1337M | Missense | 21/28 | - | 1 |
7-11446591-T-A | c.4008A>T | p.P1336= | Synonymous | 21/28 | - | 1 |
7-11446591-T-C | c.4008A>G | p.P1336= | Synonymous | 21/28 | - | 1 |
7-11446591-T-G | c.4008A>C | p.P1336= | Synonymous | 21/28 | - | 1 |
7-11446593-G-A | c.4006C>T | p.P1336S | Missense | 21/28 | - | 2 |
7-11446593-G-C | c.4006C>G | p.P1336A | Missense | 21/28 | - | 1 |
7-11446609-G-C | c.3990C>G | p.D1330E | Missense | 21/28 | - | 1 |
7-11446609-G-T | c.3990C>A | p.D1330E | Missense | 21/28 | - | 1 |
7-11446610-T-G | c.3989A>C | p.D1330A | Missense | 21/28 | - | 1 |
7-11446611-C-G | c.3988G>C | p.D1330H | Missense | 21/28 | - | 3 |
7-11446615-C-T | c.3984G>A | p.L1328= | Synonymous | 21/28 | - | 1 |
7-11446617-G-A | c.3982C>T | p.L1328= | Synonymous | 21/28 | - | 1 |
7-11446619-G-A | c.3980C>T | p.S1327F | Missense | 21/28 | - | 3 |
7-11446621-A-C | c.3978T>G | p.P1326= | Synonymous | 21/28 | - | 1 |
7-11446621-A-G | c.3978T>C | p.P1326= | Synonymous | 21/28 | - | 1 |
7-11446621-A-T | c.3978T>A | p.P1326= | Synonymous | 21/28 | - | 1 |
7-11446623-G-A | c.3976C>T | p.P1326S | Missense | 21/28 | - | 2 |
7-11446623-G-C | c.3976C>G | p.P1326A | Missense | 21/28 | - | 1 |
7-11446625-C-T | c.3974G>A | p.C1325Y | Missense | 21/28 | - | 1 |
7-11446627-T-C | c.3972A>G | p.P1324= | Synonymous | 21/28 | - | 1 |
7-11446628-G-A | c.3971C>T | p.P1324L | Missense | 21/28 | - | 1 |
7-11446634-C-T | c.3965G>A | p.G1322E | Missense | 21/28 | - | 3 |
7-11446636-A-C | c.3963T>G | p.D1321E | Missense | 21/28 | - | 4 |
7-11446643-T-G | c.3956A>C | p.Q1319P | Missense | 21/28 | - | 1 |
7-11446644-G-A | c.3955C>T | p.Q1319* | Nonsense | 21/28 | - | 4 |
7-11446653-G-T | c.3946C>A | p.Q1316K | Missense | 21/28 | - | 1 |
7-11446654-G-A | c.3945C>T | p.T1315= | Synonymous | 21/28 | - | 1 |
7-11446654-G-C | c.3945C>G | p.T1315= | Synonymous | 21/28 | - | 1 |
7-11446654-G-T | c.3945C>A | p.T1315= | Synonymous | 21/28 | - | 1 |
7-11446656-T-C | c.3943A>G | p.T1315A | Missense | 21/28 | - | 1 |
7-11446658-A-G | c.3941T>C | p.V1314A | Missense | 21/28 | - | 2 |
7-11446661-G-C | c.3938C>G | p.T1313R | Missense | 21/28 | - | 1 |
7-11446664-C-A | c.3935G>T | p.R1312L | Missense | 21/28 | - | 2 |
7-11446664-C-T | c.3935G>A | p.R1312Q | Missense | 21/28 | - | 9 |
7-11446665-G-A | c.3934C>T | p.R1312* | Nonsense | 21/28 | - | 5 |
7-11446670-C-T | c.3929G>A | p.R1310Q | Missense | 21/28 | - | 9 |
7-11446671-G-T | c.3928C>A | p.R1310= | Synonymous | 21/28 | - | 1 |
7-11446675-C-A | c.3924G>T | p.M1308I | Missense | 21/28 | - | 2 |
7-11446675-C-G | c.3924G>C | p.M1308I | Missense | 21/28 | - | 2 |
7-11446675-C-T | c.3924G>A | p.M1308I | Missense | 21/28 | - | 2 |
7-11446680-T-C | c.3919A>G | p.K1307E | Missense | 21/28 | - | 1 |
7-11446682-C-T | c.3917G>A | p.G1306E | Missense | 21/28 | - | 4 |
7-11446769-A-G | c.3917-87T>C | - | IntronicSNV | - | 20/27 | 2 |
7-11446902-T-G | c.3916+31A>C | - | IntronicSNV | - | 20/27 | 6 |
7-11446932-C-A | c.3916+1G>T | - | IntronicSNV | - | 20/27 | 1 |
7-11446939-G-T | c.3910C>A | p.L1304I | Missense | 20/28 | - | 3 |
7-11446941-C-T | c.3908G>A | p.G1303D | Missense | 20/28 | - | 3 |
7-11446953-G-A | c.3896C>T | p.S1299F | Missense | 20/28 | - | 7 |
7-11446964-C-T | c.3885G>A | p.W1295* | Nonsense | 20/28 | - | 2 |
7-11446968-G-A | c.3881C>T | p.P1294L | Missense | 20/28 | - | 2 |
7-11446969-G-A | c.3880C>T | p.P1294S | Missense | 20/28 | - | 3 |
7-11446969-G-T | c.3880C>A | p.P1294T | Missense | 20/28 | - | 1 |
7-11446978-C-T | c.3871G>A | p.D1291N | Missense | 20/28 | - | 1 |
7-11446979-A-C | c.3870T>G | p.S1290= | Synonymous | 20/28 | - | 1 |
7-11446980-G-A | c.3869C>T | p.S1290F | Missense | 20/28 | - | 2 |
7-11446988-A-G | c.3861T>C | p.C1287= | Synonymous | 20/28 | - | 1 |
7-11446989-C-A | c.3860G>T | p.C1287F | Missense | 20/28 | - | 3 |
7-11446992-T-G | c.3857A>C | p.N1286T | Missense | 20/28 | - | 1 |
7-11446994-C-A | c.3855G>T | p.V1285= | Synonymous | 20/28 | - | 2 |
7-11446994-C-G | c.3855G>C | p.V1285= | Synonymous | 20/28 | - | 2 |
7-11446994-C-T | c.3855G>A | p.V1285= | Synonymous | 20/28 | - | 3 |
7-11446995-A-T | c.3854T>A | p.V1285E | Missense | 20/28 | - | 1 |
7-11446997-A-AT | c.3851_3852insA | p.V1285Cfs*7 | Frameshift | 20/28 | - | 1 |
7-11447005-C-T | c.3844G>A | p.E1282K | Missense | 20/28 | - | 2 |
7-11447006-C-A | c.3843G>T | p.V1281= | Synonymous | 20/28 | - | 1 |
7-11447006-C-G | c.3843G>C | p.V1281= | Synonymous | 20/28 | - | 1 |
7-11447006-C-T | c.3843G>A | p.V1281= | Synonymous | 20/28 | - | 2 |
7-11447015-G-A | c.3834C>T | p.S1278= | Synonymous | 20/28 | - | 1 |
7-11447016-G-A | c.3833C>T | p.S1278F | Missense | 20/28 | - | 1 |
7-11447018-C-A | c.3831G>T | p.T1277= | Synonymous | 20/28 | - | 1 |
7-11447019-G-T | c.3830C>A | p.T1277K | Missense | 20/28 | - | 5 |
7-11447020-T-A | c.3829A>T | p.T1277S | Missense | 20/28 | - | 2 |
7-11447024-C-T | c.3825G>A | p.M1275I | Missense | 20/28 | - | 1 |
7-11447025-A-G | c.3824T>C | p.M1275T | Missense | 20/28 | - | 1 |
7-11447028-T-A | c.3821A>T | p.Q1274L | Missense | 20/28 | - | 1 |
7-11447032-A-T | c.3817T>A | p.W1273R | Missense | 20/28 | - | 1 |
7-11447036-C-A | c.3813G>T | p.K1271N | Missense | 20/28 | - | 1 |
7-11447036-C-G | c.3813G>C | p.K1271N | Missense | 20/28 | - | 1 |
7-11447033-GTTC-G | c.3813_3815del | p.K1271del | InFrameDeletion | 20/28 | - | 2 |
7-11447040-T-C | c.3809A>G | p.E1270G | Missense | 20/28 | - | 1 |
7-11447041-C-T | c.3808G>A | p.E1270K | Missense | 20/28 | - | 1 |
7-11447042-C-T | c.3807G>A | p.L1269= | Synonymous | 20/28 | - | 1 |
7-11447047-C-A | c.3802G>T | p.G1268C | Missense | 20/28 | - | 1 |
7-11447049-A-G | c.3800T>C | p.L1267P | Missense | 20/28 | - | 1 |
7-11447159-G-A | c.3799-109C>T | - | IntronicSNV | - | 19/27 | 3 |
7-11447159-G-C | c.3799-109C>G | - | IntronicSNV | - | 19/27 | 3 |
7-11447301-A-C | c.3799-251T>G | - | IntronicSNV | - | 19/27 | 1 |
7-11447301-A-G | c.3799-251T>C | - | IntronicSNV | - | 19/27 | 1 |
7-11447943-G-A | c.3799-893C>T | - | IntronicSNV | - | 19/27 | 1 |
7-11449231-C-A | c.3798+1603G>T | - | IntronicSNV | - | 19/27 | 1 |
7-11449370-G-A | c.3798+1464C>T | - | IntronicSNV | - | 19/27 | 1 |
7-11450677-A-G | c.3798+157T>C | - | IntronicSNV | - | 19/27 | 1 |
7-11450835-G-A | c.3797C>T | p.A1266V | Missense | 19/28 | - | 4 |
7-11450836-C-T | c.3796G>A | p.A1266T | Missense | 19/28 | - | 3 |
7-11450837-T-A | c.3795A>T | p.E1265D | Missense | 19/28 | - | 1 |
7-11450837-T-G | c.3795A>C | p.E1265D | Missense | 19/28 | - | 1 |
7-11450846-T-C | c.3786A>G | p.K1262= | Synonymous | 19/28 | - | 1 |
7-11450849-C-A | c.3783G>T | p.L1261= | Synonymous | 19/28 | - | 2 |
7-11450849-C-G | c.3783G>C | p.L1261= | Synonymous | 19/28 | - | 2 |
7-11450849-C-T | c.3783G>A | p.L1261= | Synonymous | 19/28 | - | 5 |
7-11450851-G-A | c.3781C>T | p.L1261= | Synonymous | 19/28 | - | 2 |
7-11450857-C-G | c.3775G>C | p.V1259L | Missense | 19/28 | - | 1 |
7-11450858-T-G | c.3774A>C | p.S1258= | Synonymous | 19/28 | - | 1 |
7-11450859-G-A | c.3773C>T | p.S1258L | Missense | 19/28 | - | 3 |
7-11450865-C-T | c.3767G>A | p.G1256D | Missense | 19/28 | - | 2 |
7-11450869-C-A | c.3763G>T | p.D1255Y | Missense | 19/28 | - | 2 |
7-11450874-C-T | c.3758G>A | p.R1253Q | Missense | 19/28 | - | 6 |
7-11450875-G-A | c.3757C>T | p.R1253* | Nonsense | 19/28 | - | 2 |
7-11450882-A-G | c.3750T>C | p.D1250= | Synonymous | 19/28 | - | 3 |
7-11450888-C-T | c.3744G>A | p.M1248I | Missense | 19/28 | - | 1 |
7-11450899-T-G | c.3733A>C | p.K1245Q | Missense | 19/28 | - | 1 |
7-11450904-C-T | c.3728G>A | p.G1243E | Missense | 19/28 | - | 5 |
7-11450905-C-T | c.3727G>A | p.G1243R | Missense | 19/28 | - | 2 |
7-11450907-T-G | c.3725A>C | p.N1242T | Missense | 19/28 | - | 1 |
7-11450910-C-T | c.3722G>A | p.G1241E | Missense | 19/28 | - | 4 |
7-11450918-T-A | c.3714A>T | p.A1238= | Synonymous | 19/28 | - | 1 |
7-11450918-T-C | c.3714A>G | p.A1238= | Synonymous | 19/28 | - | 1 |
7-11450918-T-G | c.3714A>C | p.A1238= | Synonymous | 19/28 | - | 1 |
7-11450922-T-G | c.3710A>C | p.K1237T | Missense | 19/28 | - | 1 |
7-11450924-C-A | c.3708G>T | p.E1236D | Missense | 19/28 | - | 1 |
7-11450925-T-C | c.3707A>G | p.E1236G | Missense | 19/28 | - | 1 |
7-11450926-C-A | c.3706G>T | p.E1236* | Nonsense | 19/28 | - | 2 |
7-11450926-C-T | c.3706G>A | p.E1236K | Missense | 19/28 | - | 3 |
7-11450927-A-C | c.3705T>G | p.S1235R | Missense | 19/28 | - | 1 |
7-11450927-A-T | c.3705T>A | p.S1235R | Missense | 19/28 | - | 1 |
7-11450929-T-G | c.3703A>C | p.S1235R | Missense | 19/28 | - | 1 |
7-11450930-C-G | c.3702G>C | p.L1234= | Synonymous | 19/28 | - | 1 |
7-11450931-A-C | c.3701T>G | p.L1234R | Missense | 19/28 | - | 3 |
7-11450937-C-T | c.3695G>A | p.C1232Y | Missense | 19/28 | - | 1 |
7-11450945-C-T | c.3687G>A | p.W1229* | Nonsense | 19/28 | - | 1 |
7-11450946-C-T | c.3686G>A | p.W1229* | Nonsense | 19/28 | - | 1 |
7-11452107-TA-T | c.3682+175del | - | IntronicDeletion | - | 18/27 | 1 |
7-11452204-C-G | c.3682+79G>C | - | IntronicSNV | - | 18/27 | 5 |
7-11452261-G-A | c.3682+22C>T | - | IntronicSNV | - | 18/27 | 1 |
7-11452283-C-A | c.3682G>T | p.D1228Y | Missense | 18/28 | - | 1 |
7-11452289-C-A | c.3676G>T | p.V1226L | Missense | 18/28 | - | 1 |
7-11452292-T-A | c.3673A>T | p.N1225Y | Missense | 18/28 | - | 1 |
7-11452292-T-C | c.3673A>G | p.N1225D | Missense | 18/28 | - | 1 |
7-11452297-T-A | c.3668A>T | p.D1223V | Missense | 18/28 | - | 1 |
7-11452302-G-C | c.3663C>G | p.H1221Q | Missense | 18/28 | - | 2 |
7-11452302-G-T | c.3663C>A | p.H1221Q | Missense | 18/28 | - | 3 |
7-11452308-G-T | c.3657C>A | p.C1219* | Nonsense | 18/28 | - | 1 |
7-11452309-C-A | c.3656G>T | p.C1219F | Missense | 18/28 | - | 1 |
7-11452310-A-G | c.3655T>C | p.C1219R | Missense | 18/28 | - | 1 |
7-11452317-TG-T | c.3648del | p.N1216Kfs*11 | Frameshift | 18/28 | - | 1 |
7-11452318-T-G | c.3647A>C | p.N1216T | Missense | 18/28 | - | 1 |
7-11452320-C-T | c.3645G>A | p.L1215= | Synonymous | 18/28 | - | 1 |
7-11452329-G-A | c.3636C>T | p.P1212= | Synonymous | 18/28 | - | 3 |
7-11452332-T-G | c.3633A>C | p.E1211D | Missense | 18/28 | - | 1 |
7-11452338-C-A | c.3627G>T | p.E1209D | Missense | 18/28 | - | 2 |
7-11452338-C-G | c.3627G>C | p.E1209D | Missense | 18/28 | - | 2 |
7-11452338-C-T | c.3627G>A | p.E1209= | Synonymous | 18/28 | - | 3 |
7-11452339-T-C | c.3626A>G | p.E1209G | Missense | 18/28 | - | 1 |
7-11452340-C-G | c.3625G>C | p.E1209Q | Missense | 18/28 | - | 1 |
7-11452340-C-T | c.3625G>A | p.E1209K | Missense | 18/28 | - | 4 |
7-11452341-A-C | c.3624T>G | p.V1208= | Synonymous | 18/28 | - | 2 |
7-11452341-A-G | c.3624T>C | p.V1208= | Synonymous | 18/28 | - | 2 |
7-11452341-A-T | c.3624T>A | p.V1208= | Synonymous | 18/28 | - | 2 |
7-11452343-C-A | c.3622G>T | p.V1208F | Missense | 18/28 | - | 1 |
7-11452343-C-T | c.3622G>A | p.V1208I | Missense | 18/28 | - | 1 |
7-11452349-T-C | c.3616A>G | p.N1206D | Missense | 18/28 | - | 1 |
7-11452352-G-A | c.3613C>T | p.P1205S | Missense | 18/28 | - | 2 |
7-11452352-G-C | c.3613C>G | p.P1205A | Missense | 18/28 | - | 1 |
7-11452357-G-A | c.3608C>T | p.S1203F | Missense | 18/28 | - | 2 |
7-11452363-C-T | c.3602G>A | p.G1201E | Missense | 18/28 | - | 1 |
7-11452367-C-T | c.3598G>A | p.E1200K | Missense | 18/28 | - | 1 |
7-11452370-C-A | c.3595G>T | p.D1199Y | Missense | 18/28 | - | 1 |
7-11452370-C-G | c.3595G>C | p.D1199H | Missense | 18/28 | - | 1 |
7-11452375-G-A | c.3590C>T | p.P1197L | Missense | 18/28 | - | 1 |
7-11452381-C-T | c.3584G>A | p.R1195K | Missense | 18/28 | - | 2 |
7-11452384-A-G | c.3581T>C | p.I1194T | Missense | 18/28 | - | 1 |
7-11452386-G-A | c.3579C>T | p.P1193= | Synonymous | 18/28 | - | 2 |
7-11452388-G-A | c.3577C>T | p.P1193S | Missense | 18/28 | - | 1 |
7-11452391-C-A | c.3574G>T | p.D1192Y | Missense | 18/28 | - | 1 |
7-11452391-C-T | c.3574G>A | p.D1192N | Missense | 18/28 | - | 3 |
7-11452393-G-A | c.3572C>T | p.A1191V | Missense | 18/28 | - | 1 |
7-11452394-C-A | c.3571G>T | p.A1191S | Missense | 18/28 | - | 1 |
7-11452399-C-T | c.3566G>A | p.R1189K | Missense | 18/28 | - | 1 |
7-11452402-T-A | c.3563A>T | p.Q1188L | Missense | 18/28 | - | 2 |
7-11452405-C-T | c.3560G>A | p.R1187Q | Missense | 18/28 | - | 1 |
7-11452406-G-A | c.3559C>T | p.R1187W | Missense | 18/28 | - | 5 |
7-11452416-T-C | c.3549A>G | p.Q1183= | Synonymous | 18/28 | - | 1 |
7-11452418-G-A | c.3547C>T | p.Q1183* | Nonsense | 18/28 | - | 1 |
7-11452418-G-C | c.3547C>G | p.Q1183E | Missense | 18/28 | - | 3 |
7-11452422-G-C | c.3543C>G | p.C1181W | Missense | 18/28 | - | 1 |
7-11452423-C-A | c.3542G>T | p.C1181F | Missense | 18/28 | - | 1 |
7-11453475-C-T | c.3538-1048G>A | - | IntronicSNV | - | 17/27 | 1 |
7-11457076-C-G | c.3537+1G>C | - | IntronicSNV | - | 17/27 | 1 |
7-11457077-C-T | c.3537G>A | p.L1179= | Synonymous | 17/28 | - | 1 |
7-11457079-A-G | c.3535T>C | p.L1179= | Synonymous | 17/28 | - | 1 |
7-11457082-C-T | c.3532G>A | p.V1178I | Missense | 17/28 | - | 1 |
7-11457083-A-C | c.3531T>G | p.C1177W | Missense | 17/28 | - | 2 |
7-11457083-A-T | c.3531T>A | p.C1177* | Nonsense | 17/28 | - | 1 |
7-11457084-C-T | c.3530G>A | p.C1177Y | Missense | 17/28 | - | 1 |
7-11457087-T-G | c.3527A>C | p.Q1176P | Missense | 17/28 | - | 1 |
7-11457089-G-A | c.3525C>T | p.T1175= | Synonymous | 17/28 | - | 1 |
7-11457089-G-C | c.3525C>G | p.T1175= | Synonymous | 17/28 | - | 1 |
7-11457089-G-T | c.3525C>A | p.T1175= | Synonymous | 17/28 | - | 1 |
7-11457093-C-A | c.3521G>T | p.W1174L | Missense | 17/28 | - | 1 |
7-11457094-A-T | c.3520T>A | p.W1174R | Missense | 17/28 | - | 1 |
7-11457097-G-C | c.3517C>G | p.P1173A | Missense | 17/28 | - | 1 |
7-11457100-C-A | c.3514G>T | p.G1172C | Missense | 17/28 | - | 1 |
7-11457106-C-T | c.3508G>A | p.E1170K | Missense | 17/28 | - | 1 |
7-11457109-A-G | c.3505T>C | p.S1169P | Missense | 17/28 | - | 2 |
7-11457113-C-T | c.3501G>A | p.V1167= | Synonymous | 17/28 | - | 2 |
7-11457127-G-A | c.3487C>T | p.P1163S | Missense | 17/28 | - | 1 |
7-11457127-G-T | c.3487C>A | p.P1163T | Missense | 17/28 | - | 2 |
7-11457132-G-T | c.3482C>A | p.P1161Q | Missense | 17/28 | - | 1 |
7-11457134-T-C | c.3480A>G | p.L1160= | Synonymous | 17/28 | - | 1 |
7-11457136-A-G | c.3478T>C | p.L1160= | Synonymous | 17/28 | - | 1 |
7-11457137-T-G | c.3477A>C | p.K1159N | Missense | 17/28 | - | 1 |
7-11457139-T-C | c.3475A>G | p.K1159E | Missense | 17/28 | - | 1 |
7-11457141-C-T | c.3473G>A | p.C1158Y | Missense | 17/28 | - | 2 |
7-11457143-C-A | c.3471G>T | p.V1157= | Synonymous | 17/28 | - | 1 |
7-11457143-C-G | c.3471G>C | p.V1157= | Synonymous | 17/28 | - | 1 |
7-11457143-C-T | c.3471G>A | p.V1157= | Synonymous | 17/28 | - | 1 |
7-11457146-TCT-ACA | c.3466_3468delinsTGT | p.R1156C | Missense | 17/28 | - | 1 |
7-11457147-C-T | c.3467G>A | p.R1156K | Missense | 17/28 | - | 1 |
7-11457160-G-C | c.3454C>G | p.P1152A | Missense | 17/28 | - | 1 |
7-11457160-G-T | c.3454C>A | p.P1152T | Missense | 17/28 | - | 3 |
7-11457166-C-T | c.3448G>A | p.E1150K | Missense | 17/28 | - | 1 |
7-11457169-C-T | c.3445G>A | p.E1149K | Missense | 17/28 | - | 4 |
7-11457170-T-A | c.3444A>T | p.P1148= | Synonymous | 17/28 | - | 1 |
7-11457170-T-C | c.3444A>G | p.P1148= | Synonymous | 17/28 | - | 1 |
7-11457170-T-G | c.3444A>C | p.P1148= | Synonymous | 17/28 | - | 1 |
7-11457172-G-T | c.3442C>A | p.P1148T | Missense | 17/28 | - | 1 |
7-11457174-T-A | c.3440A>T | p.D1147V | Missense | 17/28 | - | 2 |
7-11457179-G-T | c.3435C>A | p.L1145= | Synonymous | 17/28 | - | 2 |
7-11457181-G-A | c.3433C>T | p.L1145F | Missense | 17/28 | - | 2 |
7-11457181-G-T | c.3433C>A | p.L1145I | Missense | 17/28 | - | 1 |
7-11457183-T-C | c.3431A>G | p.Y1144C | Missense | 17/28 | - | 1 |
7-11457196-G-C | c.3418C>G | p.H1140D | Missense | 17/28 | - | 1 |
7-11457199-C-A | c.3415G>T | p.E1139* | Nonsense | 17/28 | - | 1 |
7-11457204-G-A | c.3410C>T | p.P1137L | Missense | 17/28 | - | 2 |
7-11457205-G-A | c.3409C>T | p.P1137S | Missense | 17/28 | - | 1 |
7-11457211-C-A | c.3403G>T | p.D1135Y | Missense | 17/28 | - | 1 |
7-11457215-T-A | c.3399A>T | p.T1133= | Synonymous | 17/28 | - | 1 |
7-11457215-T-C | c.3399A>G | p.T1133= | Synonymous | 17/28 | - | 1 |
7-11457215-T-G | c.3399A>C | p.T1133= | Synonymous | 17/28 | - | 1 |
7-11457224-C-A | c.3390G>T | p.M1130I | Missense | 17/28 | - | 1 |
7-11457224-C-G | c.3390G>C | p.M1130I | Missense | 17/28 | - | 1 |
7-11457224-C-T | c.3390G>A | p.M1130I | Missense | 17/28 | - | 1 |
7-11457225-A-T | c.3389T>A | p.M1130K | Missense | 17/28 | - | 1 |
7-11462104-A-G | c.3383+2219T>C | - | IntronicSNV | - | 16/27 | 1 |
7-11463615-T-A | c.3383+708A>T | - | IntronicSNV | - | 16/27 | 1 |
7-11464233-C-T | c.3383+90G>A | - | IntronicSNV | - | 16/27 | 1 |
7-11464297-T-C | c.3383+26A>G | - | IntronicSNV | - | 16/27 | 6 |
7-11464318-TCTTACCTCACTTTTCG-T | c.3373_3383+5del | - | SpliceDonorDeletion | 16/28 | 16/27 | 1 |
7-11464326-A-G | c.3380T>C | p.V1127A | Missense | 16/28 | - | 1 |
7-11464331-TCG-ACA | c.3373_3375delinsTGT | p.R1125C | Missense | 16/28 | - | 1 |
7-11464331-T-G | c.3375A>C | p.R1125= | Synonymous | 16/28 | - | 1 |
7-11464328-TTTTCGGG-T | c.3371_3377del | p.T1124Kfs*2 | Frameshift | 16/28 | - | 1 |
7-11464332-C-T | c.3374G>A | p.R1125Q | Missense | 16/28 | - | 6 |
7-11464333-G-A | c.3373C>T | p.R1125* | Nonsense | 16/28 | - | 5 |
7-11464335-G-T | c.3371C>A | p.T1124N | Missense | 16/28 | - | 1 |
7-11464339-G-C | c.3367C>G | p.Q1123E | Missense | 16/28 | - | 1 |
7-11464340-C-A | c.3366G>T | p.V1122= | Synonymous | 16/28 | - | 2 |
7-11464340-C-G | c.3366G>C | p.V1122= | Synonymous | 16/28 | - | 2 |
7-11464340-C-T | c.3366G>A | p.V1122= | Synonymous | 16/28 | - | 3 |
7-11464342-C-A | c.3364G>T | p.V1122L | Missense | 16/28 | - | 1 |
7-11464342-C-T | c.3364G>A | p.V1122M | Missense | 16/28 | - | 2 |
7-11464343-G-A | c.3363C>T | p.G1121= | Synonymous | 16/28 | - | 4 |
7-11464343-G-C | c.3363C>G | p.G1121= | Synonymous | 16/28 | - | 1 |
7-11464343-G-T | c.3363C>A | p.G1121= | Synonymous | 16/28 | - | 1 |
7-11464348-C-G | c.3358G>C | p.E1120Q | Missense | 16/28 | - | 2 |
7-11464348-C-T | c.3358G>A | p.E1120K | Missense | 16/28 | - | 1 |
7-11464349-T-A | c.3357A>T | p.G1119= | Synonymous | 16/28 | - | 1 |
7-11464349-T-C | c.3357A>G | p.G1119= | Synonymous | 16/28 | - | 1 |
7-11464349-T-G | c.3357A>C | p.G1119= | Synonymous | 16/28 | - | 1 |
7-11464354-A-C | c.3352T>G | p.C1118G | Missense | 16/28 | - | 1 |
7-11464360-C-T | c.3346G>A | p.E1116K | Missense | 16/28 | - | 1 |
7-11464361-C-A | c.3345G>T | p.R1115= | Synonymous | 16/28 | - | 1 |
7-11464361-C-T | c.3345G>A | p.R1115= | Synonymous | 16/28 | - | 2 |
7-11464362-C-A | c.3344G>T | p.R1115L | Missense | 16/28 | - | 2 |
7-11464362-C-T | c.3344G>A | p.R1115Q | Missense | 16/28 | - | 2 |
7-11464363-G-A | c.3343C>T | p.R1115W | Missense | 16/28 | - | 1 |
7-11464371-A-G | c.3335T>C | p.V1112A | Missense | 16/28 | - | 1 |
7-11464372-C-A | c.3334G>T | p.V1112L | Missense | 16/28 | - | 2 |
7-11464372-C-G | c.3334G>C | p.V1112L | Missense | 16/28 | - | 1 |
7-11464376-G-T | c.3330C>A | p.T1110= | Synonymous | 16/28 | - | 1 |
7-11464379-C-A | c.3327G>T | p.V1109= | Synonymous | 16/28 | - | 2 |
7-11464381-C-T | c.3325G>A | p.V1109M | Missense | 16/28 | - | 1 |
7-11464382-C-G | c.3324G>C | p.K1108N | Missense | 16/28 | - | 1 |
7-11464385-G-A | c.3321C>T | p.C1107= | Synonymous | 16/28 | - | 1 |
7-11464386-CA-GT | c.3319_3320delinsAC | p.C1107T | Missense | 16/28 | - | 1 |
7-11464386-C-G | c.3320G>C | p.C1107S | Missense | 16/28 | - | 2 |
7-11464387-A-T | c.3319T>A | p.C1107S | Missense | 16/28 | - | 3 |
7-11464388-G-A | c.3318C>T | p.I1106= | Synonymous | 16/28 | - | 1 |
7-11464388-G-T | c.3318C>A | p.I1106= | Synonymous | 16/28 | - | 1 |
7-11464391-G-A | c.3315C>T | p.S1105= | Synonymous | 16/28 | - | 1 |
7-11464392-C-A | c.3314G>T | p.S1105I | Missense | 16/28 | - | 1 |
7-11464392-C-G | c.3314G>C | p.S1105T | Missense | 16/28 | - | 2 |
7-11464392-C-T | c.3314G>A | p.S1105N | Missense | 16/28 | - | 2 |
7-11464389-ATGCTCCAGGGCTCTGTGACCCATAGGTACTGGT-A | c.3284_3316del | p.N1095_S1105del | InFrameDeletion | 16/28 | - | 1 |
7-11464393-T-C | c.3313A>G | p.S1105G | Missense | 16/28 | - | 1 |
7-11464398-G-A | c.3308C>T | p.P1103L | Missense | 16/28 | - | 1 |
7-11464399-G-T | c.3307C>A | p.P1103T | Missense | 16/28 | - | 1 |
7-11464400-C-A | c.3306G>T | p.E1102D | Missense | 16/28 | - | 1 |
7-11464401-T-C | c.3305A>G | p.E1102G | Missense | 16/28 | - | 1 |
7-11464415-G-C | c.3291C>G | p.Y1097* | Nonsense | 16/28 | - | 3 |
7-11464415-G-T | c.3291C>A | p.Y1097* | Nonsense | 16/28 | - | 2 |
7-11464416-T-C | c.3290A>G | p.Y1097C | Missense | 16/28 | - | 1 |
7-11464421-G-A | c.3285C>T | p.N1095= | Synonymous | 16/28 | - | 1 |
7-11464427-G-C | c.3279C>G | p.D1093E | Missense | 16/28 | - | 5 |
7-11464427-G-T | c.3279C>A | p.D1093E | Missense | 16/28 | - | 6 |
7-11464429-C-T | c.3277G>A | p.D1093N | Missense | 16/28 | - | 2 |
7-11464432-T-C | c.3274A>G | p.S1092G | Missense | 16/28 | - | 3 |
7-11464434-T-C | c.3272A>G | p.H1091R | Missense | 16/28 | - | 1 |
7-11464435-G-A | c.3271C>T | p.H1091Y | Missense | 16/28 | - | 1 |
7-11464441-G-A | c.3265C>T | p.P1089S | Missense | 16/28 | - | 1 |
7-11464442-G-T | c.3264C>A | p.V1088= | Synonymous | 16/28 | - | 1 |
7-11464450-C-T | c.3256G>A | p.E1086K | Missense | 16/28 | - | 3 |
7-11465998-T-C | c.3249+295A>G | - | IntronicSNV | - | 15/27 | 1 |
7-11466172-A-G | c.3249+121T>C | - | IntronicSNV | - | 15/27 | 1 |
7-11468513-G-GA | c.3243+60dup | - | IntronicInsertion | - | 14/27 | 1 |
7-11468538-C-G | c.3243+36G>C | - | IntronicSNV | - | 14/27 | 1 |
7-11468538-C-T | c.3243+36G>A | - | IntronicSNV | - | 14/27 | 1 |
7-11468584-T-C | c.3233A>G | p.H1078R | Missense | 14/28 | - | 2 |
7-11468589-C-A | c.3228G>T | p.L1076= | Synonymous | 14/28 | - | 1 |
7-11468589-C-G | c.3228G>C | p.L1076= | Synonymous | 14/28 | - | 1 |
7-11468589-C-T | c.3228G>A | p.L1076= | Synonymous | 14/28 | - | 1 |
7-11468591-G-A | c.3226C>T | p.L1076= | Synonymous | 14/28 | - | 2 |
7-11468591-G-C | c.3226C>G | p.L1076V | Missense | 14/28 | - | 1 |
7-11468595-G-T | c.3222C>A | p.P1074= | Synonymous | 14/28 | - | 2 |
7-11468598-G-A | c.3219C>T | p.C1073= | Synonymous | 14/28 | - | 1 |
7-11468598-G-T | c.3219C>A | p.C1073* | Nonsense | 14/28 | - | 1 |
7-11468604-C-A | c.3213G>T | p.R1071S | Missense | 14/28 | - | 1 |
7-11468604-C-G | c.3213G>C | p.R1071S | Missense | 14/28 | - | 1 |
7-11468604-C-T | c.3213G>A | p.R1071= | Synonymous | 14/28 | - | 1 |
7-11468606-T-G | c.3211A>C | p.R1071= | Synonymous | 14/28 | - | 1 |
7-11468605-C-G | c.3212G>C | p.R1071T | Missense | 14/28 | - | 1 |
7-11468611-C-G | c.3206G>C | p.G1069A | Missense | 14/28 | - | 1 |
7-11468614-T-C | c.3203A>G | p.N1068S | Missense | 14/28 | - | 1 |
7-11468620-G-C | c.3197C>G | p.P1066R | Missense | 14/28 | - | 1 |
7-11468628-A-C | c.3189T>G | p.R1063= | Synonymous | 14/28 | - | 1 |
7-11468633-G-C | c.3184C>G | p.L1062V | Missense | 14/28 | - | 1 |
7-11468641-G-A | c.3176C>T | p.S1059F | Missense | 14/28 | - | 4 |
7-11468641-G-T | c.3176C>A | p.S1059Y | Missense | 14/28 | - | 1 |
7-11468644-C-T | c.3173G>A | p.R1058H | Missense | 14/28 | - | 1 |
7-11468645-G-A | c.3172C>T | p.R1058C | Missense | 14/28 | - | 8 |
7-11468646-A-C | c.3171T>G | p.V1057= | Synonymous | 14/28 | - | 1 |
7-11468646-A-G | c.3171T>C | p.V1057= | Synonymous | 14/28 | - | 1 |
7-11468646-A-T | c.3171T>A | p.V1057= | Synonymous | 14/28 | - | 1 |
7-11468652-C-A | c.3165G>T | p.V1055= | Synonymous | 14/28 | - | 1 |
7-11468652-C-G | c.3165G>C | p.V1055= | Synonymous | 14/28 | - | 1 |
7-11468652-C-T | c.3165G>A | p.V1055= | Synonymous | 14/28 | - | 1 |
7-11468654-C-A | c.3163G>T | p.V1055L | Missense | 14/28 | - | 1 |
7-11468661-C-A | c.3156G>T | p.G1052= | Synonymous | 14/28 | - | 1 |
7-11468661-C-G | c.3156G>C | p.G1052= | Synonymous | 14/28 | - | 2 |
7-11468661-C-T | c.3156G>A | p.G1052= | Synonymous | 14/28 | - | 1 |
7-11468668-G-A | c.3149C>T | p.S1050F | Missense | 14/28 | - | 2 |
7-11468680-C-T | c.3137G>A | p.R1046H | Missense | 14/28 | - | 3 |
7-11468681-G-A | c.3136C>T | p.R1046C | Missense | 14/28 | - | 7 |
7-11468683-G-A | c.3134C>T | p.S1045L | Missense | 14/28 | - | 1 |
7-11468692-G-A | c.3125C>T | p.S1042F | Missense | 14/28 | - | 3 |
7-11468695-C-A | c.3122G>T | p.W1041L | Missense | 14/28 | - | 1 |
7-11468699-C-T | c.3118G>A | p.E1040K | Missense | 14/28 | - | 1 |
7-11468700-A-C | c.3117T>G | p.S1039R | Missense | 14/28 | - | 1 |
7-11468700-A-G | c.3117T>C | p.S1039= | Synonymous | 14/28 | - | 1 |
7-11468710-C-A | c.3107G>T | p.C1036F | Missense | 14/28 | - | 4 |
7-11468712-G-C | c.3105C>G | p.D1035E | Missense | 14/28 | - | 1 |
7-11468712-G-T | c.3105C>A | p.D1035E | Missense | 14/28 | - | 1 |
7-11468716-G-A | c.3101C>T | p.S1034L | Missense | 14/28 | - | 2 |
7-11468719-G-A | c.3098C>T | p.P1033L | Missense | 14/28 | - | 1 |
7-11468722-C-A | c.3095G>T | p.C1032F | Missense | 14/28 | - | 3 |
7-11468724-G-T | c.3093C>A | p.P1031= | Synonymous | 14/28 | - | 1 |
7-11468727-G-A | c.3090C>T | p.I1030= | Synonymous | 14/28 | - | 3 |
7-11468738-C-T | c.3079G>A | p.A1027T | Missense | 14/28 | - | 3 |
7-11468748-G-A | c.3069C>T | p.Y1023= | Synonymous | 14/28 | - | 1 |
7-11468751-A-C | c.3066T>G | p.G1022= | Synonymous | 14/28 | - | 1 |
7-11468751-A-G | c.3066T>C | p.G1022= | Synonymous | 14/28 | - | 1 |
7-11468751-A-T | c.3066T>A | p.G1022= | Synonymous | 14/28 | - | 1 |
7-11480694-T-C | c.3064+4994A>G | - | IntronicSNV | - | 13/27 | 1 |
7-11485054-C-T | c.3064+634G>A | - | IntronicSNV | - | 13/27 | 1 |
7-11485105-A-T | c.3064+583T>A | - | IntronicSNV | - | 13/27 | 1 |
7-11485527-T-A | c.3064+161A>T | - | IntronicSNV | - | 13/27 | 2 |
7-11485527-T-C | c.3064+161A>G | - | IntronicSNV | - | 13/27 | 4 |
7-11485591-G-A | c.3064+97C>T | - | IntronicSNV | - | 13/27 | 1 |
7-11485671-A-G | c.3064+17T>C | - | IntronicSNV | - | 13/27 | 1 |
7-11485680-T-C | c.3064+8A>G | - | IntronicSNV | - | 13/27 | 1 |
7-11485690-T-C | c.3062A>G | p.H1021R | Missense | 13/28 | - | 1 |
7-11485695-G-C | c.3057C>G | p.N1019K | Missense | 13/28 | - | 1 |
7-11485695-G-T | c.3057C>A | p.N1019K | Missense | 13/28 | - | 1 |
7-11485696-T-C | c.3056A>G | p.N1019S | Missense | 13/28 | - | 1 |
7-11485699-C-A | c.3053G>T | p.C1018F | Missense | 13/28 | - | 3 |
7-11485703-T-A | c.3049A>T | p.R1017* | Nonsense | 13/28 | - | 4 |
7-11485708-G-A | c.3044C>T | p.T1015I | Missense | 13/28 | - | 1 |
7-11485712-C-T | c.3040G>A | p.E1014K | Missense | 13/28 | - | 1 |
7-11485715-C-T | c.3037G>A | p.V1013M | Missense | 13/28 | - | 1 |
7-11485722-G-A | c.3030C>T | p.G1010= | Synonymous | 13/28 | - | 1 |
7-11485722-G-T | c.3030C>A | p.G1010= | Synonymous | 13/28 | - | 1 |
7-11485723-C-G | c.3029G>C | p.G1010A | Missense | 13/28 | - | 1 |
7-11485723-C-T | c.3029G>A | p.G1010D | Missense | 13/28 | - | 1 |
7-11485726-T-C | c.3026A>G | p.N1009S | Missense | 13/28 | - | 1 |
7-11485725-AT-A | c.3026del | p.N1009Mfs*47 | Frameshift | 13/28 | - | 1 |
7-11485733-C-T | c.3019G>A | p.D1007N | Missense | 13/28 | - | 8 |
7-11485734-G-A | c.3018C>T | p.Y1006= | Synonymous | 13/28 | - | 3 |
7-11485738-C-T | c.3014G>A | p.C1005Y | Missense | 13/28 | - | 2 |
7-11485742-C-T | c.3010G>A | p.A1004T | Missense | 13/28 | - | 3 |
7-11485751-G-C | c.3001C>G | p.Q1001E | Missense | 13/28 | - | 1 |
7-11485751-G-T | c.3001C>A | p.Q1001K | Missense | 13/28 | - | 2 |
7-11485756-C-T | c.2996G>A | p.R999H | Missense | 13/28 | - | 1 |
7-11485757-G-A | c.2995C>T | p.R999C | Missense | 13/28 | - | 10 |
7-11485757-G-T | c.2995C>A | p.R999S | Missense | 13/28 | - | 1 |
7-11485763-C-A | c.2989G>T | p.G997* | Nonsense | 13/28 | - | 1 |
7-11485769-C-G | c.2983G>C | p.G995R | Missense | 13/28 | - | 3 |
7-11485769-C-T | c.2983G>A | p.G995R | Missense | 13/28 | - | 3 |
7-11485770-G-T | c.2982C>A | p.C994* | Nonsense | 13/28 | - | 2 |
7-11485772-A-C | c.2980T>G | p.C994G | Missense | 13/28 | - | 1 |
7-11485773-T-C | c.2979A>G | p.E993= | Synonymous | 13/28 | - | 2 |
7-11485776-C-T | c.2976G>A | p.K992= | Synonymous | 13/28 | - | 1 |
7-11485779-G-A | c.2973C>T | p.I991= | Synonymous | 13/28 | - | 1 |
7-11485779-G-T | c.2973C>A | p.I991= | Synonymous | 13/28 | - | 1 |
7-11485781-T-C | c.2971A>G | p.I991V | Missense | 13/28 | - | 1 |
7-11485783-T-G | c.2969A>C | p.D990A | Missense | 13/28 | - | 1 |
7-11485784-C-A | c.2968G>T | p.D990Y | Missense | 13/28 | - | 4 |
7-11485784-C-T | c.2968G>A | p.D990N | Missense | 13/28 | - | 1 |
7-11485792-A-G | c.2960T>C | p.V987A | Missense | 13/28 | - | 2 |
7-11485796-T-C | c.2956A>G | p.K986E | Missense | 13/28 | - | 3 |
7-11485797-C-A | c.2955G>T | p.M985I | Missense | 13/28 | - | 1 |
7-11485797-C-T | c.2955G>A | p.M985I | Missense | 13/28 | - | 4 |
7-11485803-C-A | c.2949G>T | p.L983= | Synonymous | 13/28 | - | 2 |
7-11485804-A-T | c.2948T>A | p.L983Q | Missense | 13/28 | - | 1 |
7-11485806-C-A | c.2946G>T | p.L982F | Missense | 13/28 | - | 2 |
7-11485806-C-G | c.2946G>C | p.L982F | Missense | 13/28 | - | 1 |
7-11485816-A-C | c.2936T>G | p.V979G | Missense | 13/28 | - | 1 |
7-11485816-A-G | c.2936T>C | p.V979A | Missense | 13/28 | - | 1 |
7-11485817-C-T | c.2935G>A | p.V979M | Missense | 13/28 | - | 1 |
7-11485822-CC-TT | c.2929_2930delinsAA | p.G977K | Missense | 13/28 | - | 2 |
7-11485822-C-T | c.2930G>A | p.G977E | Missense | 13/28 | - | 4 |
7-11485824-C-A | c.2928G>T | p.E976D | Missense | 13/28 | - | 1 |
7-11485824-C-G | c.2928G>C | p.E976D | Missense | 13/28 | - | 1 |
7-11485827-T-A | c.2925A>T | p.P975= | Synonymous | 13/28 | - | 2 |
7-11485827-T-C | c.2925A>G | p.P975= | Synonymous | 13/28 | - | 1 |
7-11485827-T-G | c.2925A>C | p.P975= | Synonymous | 13/28 | - | 1 |
7-11485830-T-C | c.2922A>G | p.L974= | Synonymous | 13/28 | - | 1 |
7-11485843-G-T | c.2909C>A | p.S970* | Nonsense | 13/28 | - | 1 |
7-11485849-T-C | c.2903A>G | p.N968S | Missense | 13/28 | - | 1 |
7-11485851-C-T | c.2901G>A | p.G967= | Synonymous | 13/28 | - | 2 |
7-11485856-C-T | c.2896G>A | p.V966M | Missense | 13/28 | - | 1 |
7-11485858-G-A | c.2894C>T | p.P965L | Missense | 13/28 | - | 4 |
7-11485860-T-C | c.2892A>G | p.Q964= | Synonymous | 13/28 | - | 1 |
7-11485864-G-T | c.2888C>A | p.A963E | Missense | 13/28 | - | 2 |
7-11485867-T-G | c.2885A>C | p.N962T | Missense | 13/28 | - | 1 |
7-11485868-T-C | c.2884A>G | p.N962D | Missense | 13/28 | - | 2 |
7-11485874-T-C | c.2878A>G | p.K960E | Missense | 13/28 | - | 1 |
7-11485875-G-C | c.2877C>G | p.D959E | Missense | 13/28 | - | 1 |
7-11485875-G-T | c.2877C>A | p.D959E | Missense | 13/28 | - | 1 |
7-11485876-T-A | c.2876A>T | p.D959V | Missense | 13/28 | - | 1 |
7-11485877-C-T | c.2875G>A | p.D959N | Missense | 13/28 | - | 1 |
7-11485882-G-T | c.2870C>A | p.P957H | Missense | 13/28 | - | 1 |
7-11485883-G-A | c.2869C>T | p.P957S | Missense | 13/28 | - | 1 |
7-11485888-T-C | c.2864A>G | p.Y955C | Missense | 13/28 | - | 1 |
7-11485894-G-C | c.2858C>G | p.T953S | Missense | 13/28 | - | 1 |
7-11485895-T-A | c.2857A>T | p.T953S | Missense | 13/28 | - | 1 |
7-11485898-C-T | c.2854G>A | p.E952K | Missense | 13/28 | - | 1 |
7-11485902-C-A | c.2850G>T | p.L950= | Synonymous | 13/28 | - | 1 |
7-11485902-C-G | c.2850G>C | p.L950= | Synonymous | 13/28 | - | 1 |
7-11485902-C-T | c.2850G>A | p.L950= | Synonymous | 13/28 | - | 1 |
7-11485904-G-A | c.2848C>T | p.L950= | Synonymous | 13/28 | - | 1 |
7-11485905-G-A | c.2847C>T | p.P949= | Synonymous | 13/28 | - | 1 |
7-11485906-G-A | c.2846C>T | p.P949L | Missense | 13/28 | - | 6 |
7-11485907-G-A | c.2845C>T | p.P949S | Missense | 13/28 | - | 1 |
7-11485907-G-T | c.2845C>A | p.P949T | Missense | 13/28 | - | 1 |
7-11485916-G-A | c.2836C>T | p.H946Y | Missense | 13/28 | - | 1 |
7-11485918-G-A | c.2834C>T | p.S945F | Missense | 13/28 | - | 1 |
7-11485918-G-T | c.2834C>A | p.S945Y | Missense | 13/28 | - | 1 |
7-11485921-T-C | c.2831A>G | p.N944S | Missense | 13/28 | - | 1 |
7-11485926-A-C | c.2826T>G | p.C942W | Missense | 13/28 | - | 1 |
7-11485934-C-T | c.2818G>A | p.E940K | Missense | 13/28 | - | 7 |
7-11485935-C-G | c.2817G>C | p.K939N | Missense | 13/28 | - | 1 |
7-11485935-C-T | c.2817G>A | p.K939= | Synonymous | 13/28 | - | 3 |
7-11485937-T-TA | c.2814_2815insT | p.K939* | Nonsense | 13/28 | - | 1 |
7-11485938-C-A | c.2814G>T | p.K938N | Missense | 13/28 | - | 3 |
7-11485938-C-G | c.2814G>C | p.K938N | Missense | 13/28 | - | 2 |
7-11485938-C-T | c.2814G>A | p.K938= | Synonymous | 13/28 | - | 1 |
7-11485942-T-A | c.2810A>T | p.K937I | Missense | 13/28 | - | 3 |
7-11485944-A-G | c.2808T>C | p.S936= | Synonymous | 13/28 | - | 1 |
7-11485945-C-A | c.2807G>T | p.S936I | Missense | 13/28 | - | 2 |
7-11485949-T-G | c.2803A>C | p.K935Q | Missense | 13/28 | - | 1 |
7-11485945-CT-C | c.2806del | p.S936Vfs*15 | Frameshift | 13/28 | - | 1 |
7-11485951-C-T | c.2801G>A | p.G934E | Missense | 13/28 | - | 2 |
7-11486811-C-G | c.2800+46G>C | - | IntronicSNV | - | 12/27 | 1 |
7-11486856-C-G | c.2800+1G>C | - | IntronicSNV | - | 12/27 | 1 |
7-11486855-AC-A | c.2800+1del | - | IntronicDeletion | 12/28 | - | 1 |
7-11486857-C-A | c.2800G>T | p.G934* | Nonsense | 12/28 | - | 2 |
7-11486861-A-C | c.2796T>G | p.L932= | Synonymous | 12/28 | - | 1 |
7-11486861-A-G | c.2796T>C | p.L932= | Synonymous | 12/28 | - | 1 |
7-11486861-A-T | c.2796T>A | p.L932= | Synonymous | 12/28 | - | 1 |
7-11486862-A-G | c.2795T>C | p.L932P | Missense | 12/28 | - | 3 |
7-11486865-G-A | c.2792C>T | p.T931I | Missense | 12/28 | - | 1 |
7-11486868-C-A | c.2789G>T | p.R930L | Missense | 12/28 | - | 1 |
7-11486868-C-G | c.2789G>C | p.R930P | Missense | 12/28 | - | 1 |
7-11486868-C-T | c.2789G>A | p.R930H | Missense | 12/28 | - | 2 |
7-11486869-G-A | c.2788C>T | p.R930C | Missense | 12/28 | - | 2 |
7-11486869-G-C | c.2788C>G | p.R930G | Missense | 12/28 | - | 3 |
7-11486870-C-T | c.2787G>A | p.K929= | Synonymous | 12/28 | - | 1 |
7-11486874-C-A | c.2783G>T | p.R928I | Missense | 12/28 | - | 1 |
7-11486874-C-T | c.2783G>A | p.R928K | Missense | 12/28 | - | 1 |
7-11486880-C-T | c.2777G>A | p.R926K | Missense | 12/28 | - | 1 |
7-11486880-CT-TG | c.2776_2777delinsCA | p.R926Q | Missense | 12/28 | - | 1 |
7-11486881-T-A | c.2776A>T | p.R926W | Missense | 12/28 | - | 1 |
7-11486883-A-C | c.2774T>G | p.V925G | Missense | 12/28 | - | 1 |
7-11486888-A-G | c.2769T>C | p.G923= | Synonymous | 12/28 | - | 1 |
7-11486890-C-G | c.2767G>C | p.G923R | Missense | 12/28 | - | 1 |
7-11486892-C-G | c.2765G>C | p.C922S | Missense | 12/28 | - | 2 |
7-11486893-A-T | c.2764T>A | p.C922S | Missense | 12/28 | - | 2 |
7-11486894-G-A | c.2763C>T | p.D921= | Synonymous | 12/28 | - | 1 |
7-11486905-A-G | c.2752T>C | p.C918R | Missense | 12/28 | - | 3 |
7-11486907-G-A | c.2750C>T | p.S917L | Missense | 12/28 | - | 1 |
7-11486910-G-A | c.2747C>T | p.S916F | Missense | 12/28 | - | 2 |
7-11486916-T-G | c.2741A>C | p.K914T | Missense | 12/28 | - | 1 |
7-11486919-G-T | c.2738C>A | p.S913Y | Missense | 12/28 | - | 3 |
7-11486925-C-A | c.2732G>T | p.S911I | Missense | 12/28 | - | 1 |
7-11486929-T-TC | c.2727dup | p.T910Dfs*17 | Frameshift | 12/28 | - | 1 |
7-11486935-G-T | c.2722C>A | p.Q908K | Missense | 12/28 | - | 1 |
7-11486939-G-A | c.2718C>T | p.D906= | Synonymous | 12/28 | - | 5 |
7-11486939-G-C | c.2718C>G | p.D906E | Missense | 12/28 | - | 1 |
7-11486939-G-T | c.2718C>A | p.D906E | Missense | 12/28 | - | 1 |
7-11486945-C-T | c.2712G>A | p.Q904= | Synonymous | 12/28 | - | 2 |
7-11486948-G-A | c.2709C>T | p.C903= | Synonymous | 12/28 | - | 1 |
7-11486951-G-A | c.2706C>T | p.P902= | Synonymous | 12/28 | - | 2 |
7-11486951-G-C | c.2706C>G | p.P902= | Synonymous | 12/28 | - | 2 |
7-11486951-G-T | c.2706C>A | p.P902= | Synonymous | 12/28 | - | 2 |
7-11486952-G-A | c.2705C>T | p.P902L | Missense | 12/28 | - | 1 |
7-11486953-G-A | c.2704C>T | p.P902S | Missense | 12/28 | - | 5 |
7-11486953-G-T | c.2704C>A | p.P902T | Missense | 12/28 | - | 1 |
7-11486950-AG-A | c.2706del | p.C903Afs*7 | Frameshift | 12/28 | - | 1 |
7-11486954-G-A | c.2703C>T | p.I901= | Synonymous | 12/28 | - | 1 |
7-11486954-G-T | c.2703C>A | p.I901= | Synonymous | 12/28 | - | 2 |
7-11486960-G-A | c.2697C>T | p.C899= | Synonymous | 12/28 | - | 1 |
7-11486961-C-G | c.2696G>C | p.C899S | Missense | 12/28 | - | 1 |
7-11486962-A-T | c.2695T>A | p.C899S | Missense | 12/28 | - | 1 |
7-11486964-G-A | c.2693C>T | p.A898V | Missense | 12/28 | - | 1 |
7-11486967-T-C | c.2690A>G | p.Q897R | Missense | 12/28 | - | 1 |
7-11486970-G-A | c.2687C>T | p.T896I | Missense | 12/28 | - | 1 |
7-11486975-G-A | c.2682C>T | p.A894= | Synonymous | 12/28 | - | 2 |
7-11486975-G-C | c.2682C>G | p.A894= | Synonymous | 12/28 | - | 1 |
7-11486975-G-T | c.2682C>A | p.A894= | Synonymous | 12/28 | - | 1 |
7-11486977-C-A | c.2680G>T | p.A894S | Missense | 12/28 | - | 3 |
7-11486980-G-A | c.2677C>T | p.P893S | Missense | 12/28 | - | 1 |
7-11486981-C-A | c.2676G>T | p.V892= | Synonymous | 12/28 | - | 2 |
7-11486981-C-G | c.2676G>C | p.V892= | Synonymous | 12/28 | - | 2 |
7-11486981-C-T | c.2676G>A | p.V892= | Synonymous | 12/28 | - | 2 |
7-11486999-T-C | c.2658A>G | p.L886= | Synonymous | 12/28 | - | 1 |
7-11487002-G-T | c.2655C>A | p.C885* | Nonsense | 12/28 | - | 1 |
7-11487003-C-T | c.2654G>A | p.C885Y | Missense | 12/28 | - | 1 |
7-11487006-T-C | c.2651A>G | p.E884G | Missense | 12/28 | - | 1 |
7-11487012-A-G | c.2645T>C | p.I882T | Missense | 12/28 | - | 1 |
7-11487022-G-A | c.2635C>T | p.Q879* | Nonsense | 12/28 | - | 8 |
7-11487024-C-A | c.2633G>T | p.G878V | Missense | 12/28 | - | 1 |
7-11487027-C-T | c.2630G>A | p.G877E | Missense | 12/28 | - | 3 |
7-11487031-C-T | c.2626G>A | p.D876N | Missense | 12/28 | - | 2 |
7-11487036-T-G | c.2621A>C | p.K874T | Missense | 12/28 | - | 1 |
7-11487039-C-T | c.2618G>A | p.R873H | Missense | 12/28 | - | 3 |
7-11487040-G-A | c.2617C>T | p.R873C | Missense | 12/28 | - | 1 |
7-11487045-G-A | c.2612C>T | p.T871I | Missense | 12/28 | - | 1 |
7-11487045-G-T | c.2612C>A | p.T871N | Missense | 12/28 | - | 3 |
7-11487100-C-G | c.2606-49G>C | - | IntronicSNV | - | 11/27 | 7 |
7-11493950-A-C | c.2605+6339T>G | - | IntronicSNV | - | 11/27 | 1 |
7-11494566-T-C | c.2605+5723A>G | - | IntronicSNV | - | 11/27 | 1 |
7-11494566-T-G | c.2605+5723A>C | - | IntronicSNV | - | 11/27 | 1 |
7-11496226-A-G | c.2605+4063T>C | - | IntronicSNV | - | 11/27 | 1 |
7-11496406-A-G | c.2605+3883T>C | - | IntronicSNV | - | 11/27 | 1 |
7-11496478-T-A | c.2605+3811A>T | - | IntronicSNV | - | 11/27 | 1 |
7-11496478-T-C | c.2605+3811A>G | - | IntronicSNV | - | 11/27 | 1 |
7-11500028-G-T | c.2605+261C>A | - | IntronicSNV | - | 11/27 | 1 |
7-11500251-G-A | c.2605+38C>T | - | IntronicSNV | - | 11/27 | 1 |
7-11500280-G-T | c.2605+9C>A | - | IntronicSNV | - | 11/27 | 1 |
7-11500282-C-T | c.2605+7G>A | - | IntronicSNV | - | 11/27 | 1 |
7-11500291-C-T | c.2603G>A | p.R868K | Missense | 11/28 | - | 1 |
7-11500292-T-A | c.2602A>T | p.R868* | Nonsense | 11/28 | - | 1 |
7-11500296-C-G | c.2598G>C | p.Q866H | Missense | 11/28 | - | 1 |
7-11500300-C-A | c.2594G>T | p.R865L | Missense | 11/28 | - | 1 |
7-11500300-C-T | c.2594G>A | p.R865Q | Missense | 11/28 | - | 2 |
7-11500301-G-A | c.2593C>T | p.R865* | Nonsense | 11/28 | - | 2 |
7-11500305-A-C | c.2589T>G | p.P863= | Synonymous | 11/28 | - | 1 |
7-11500305-A-G | c.2589T>C | p.P863= | Synonymous | 11/28 | - | 1 |
7-11500305-A-T | c.2589T>A | p.P863= | Synonymous | 11/28 | - | 1 |
7-11500306-G-A | c.2588C>T | p.P863L | Missense | 11/28 | - | 1 |
7-11500307-G-A | c.2587C>T | p.P863S | Missense | 11/28 | - | 2 |
7-11500310-C-T | c.2584G>A | p.G862R | Missense | 11/28 | - | 1 |
7-11500319-C-T | c.2575G>A | p.E859K | Missense | 11/28 | - | 1 |
7-11500322-G-C | c.2572C>G | p.Q858E | Missense | 11/28 | - | 1 |
7-11500324-G-A | c.2570C>T | p.A857V | Missense | 11/28 | - | 1 |
7-11500336-T-C | c.2558A>G | p.D853G | Missense | 11/28 | - | 2 |
7-11500340-G-T | c.2554C>A | p.Q852K | Missense | 11/28 | - | 1 |
7-11500346-C-T | c.2548G>A | p.V850M | Missense | 11/28 | - | 3 |
7-11500349-T-A | c.2545A>T | p.S849C | Missense | 11/28 | - | 1 |
7-11500350-C-G | c.2544G>C | p.W848C | Missense | 11/28 | - | 1 |
7-11500352-A-C | c.2542T>G | p.W848G | Missense | 11/28 | - | 1 |
7-11500354-G-T | c.2540C>A | p.P847H | Missense | 11/28 | - | 1 |
7-11500355-G-A | c.2539C>T | p.P847S | Missense | 11/28 | - | 3 |
7-11500362-T-A | c.2532A>T | p.Q844H | Missense | 11/28 | - | 1 |
7-11500362-T-G | c.2532A>C | p.Q844H | Missense | 11/28 | - | 1 |
7-11500369-C-T | c.2525G>A | p.R842K | Missense | 11/28 | - | 1 |
7-11500371-G-A | c.2523C>T | p.R841= | Synonymous | 11/28 | - | 1 |
7-11500371-G-C | c.2523C>G | p.R841= | Synonymous | 11/28 | - | 1 |
7-11500371-G-T | c.2523C>A | p.R841= | Synonymous | 11/28 | - | 1 |
7-11500372-C-A | c.2522G>T | p.R841L | Missense | 11/28 | - | 2 |
7-11500372-C-T | c.2522G>A | p.R841H | Missense | 11/28 | - | 10 |
7-11500373-G-A | c.2521C>T | p.R841C | Missense | 11/28 | - | 1 |
7-11500374-C-A | c.2520G>T | p.W840C | Missense | 11/28 | - | 2 |
7-11500374-C-G | c.2520G>C | p.W840C | Missense | 11/28 | - | 1 |
7-11500377-T-G | c.2517A>C | p.K839N | Missense | 11/28 | - | 1 |
7-11500381-T-C | c.2513A>G | p.H838R | Missense | 11/28 | - | 3 |
7-11500384-G-A | c.2510C>T | p.T837I | Missense | 11/28 | - | 1 |
7-11500386-C-A | c.2508G>T | p.K836N | Missense | 11/28 | - | 1 |
7-11500386-C-G | c.2508G>C | p.K836N | Missense | 11/28 | - | 2 |
7-11500388-T-A | c.2506A>T | p.K836* | Nonsense | 11/28 | - | 1 |
7-11500389-C-A | c.2505G>T | p.W835C | Missense | 11/28 | - | 1 |
7-11500389-C-G | c.2505G>C | p.W835C | Missense | 11/28 | - | 1 |
7-11500389-C-T | c.2505G>A | p.W835* | Nonsense | 11/28 | - | 1 |
7-11500390-C-T | c.2504G>A | p.W835* | Nonsense | 11/28 | - | 1 |
7-11501514-A-G | c.2501+124T>C | - | IntronicSNV | - | 10/27 | 1 |
7-11501528-T-C | c.2501+110A>G | - | IntronicSNV | - | 10/27 | 6 |
7-11501569-C-T | c.2501+69G>A | - | IntronicSNV | - | 10/27 | 1 |
7-11501617-G-C | c.2501+21C>G | - | IntronicSNV | - | 10/27 | 1 |
7-11501635-T-C | c.2501+3A>G | - | IntronicSNV | - | 10/27 | 1 |
7-11501638-CT-TG | c.2500_2501delinsCA | p.R834Q | Missense | 10/28 | - | 1 |
7-11501650-C-A | c.2489G>T | p.C830F | Missense | 10/28 | - | 3 |
7-11501650-C-G | c.2489G>C | p.C830S | Missense | 10/28 | - | 1 |
7-11501651-A-T | c.2488T>A | p.C830S | Missense | 10/28 | - | 1 |
7-11501652-C-A | c.2487G>T | p.A829= | Synonymous | 10/28 | - | 3 |
7-11501652-C-G | c.2487G>C | p.A829= | Synonymous | 10/28 | - | 2 |
7-11501652-C-T | c.2487G>A | p.A829= | Synonymous | 10/28 | - | 3 |
7-11501653-G-A | c.2486C>T | p.A829V | Missense | 10/28 | - | 2 |
7-11501654-C-A | c.2485G>T | p.A829S | Missense | 10/28 | - | 1 |
7-11501657-G-A | c.2482C>T | p.Q828* | Nonsense | 10/28 | - | 2 |
7-11501657-G-C | c.2482C>G | p.Q828E | Missense | 10/28 | - | 1 |
7-11501662-G-A | c.2477C>T | p.A826V | Missense | 10/28 | - | 1 |
7-11501670-G-A | c.2469C>T | p.A823= | Synonymous | 10/28 | - | 1 |
7-11501671-G-A | c.2468C>T | p.A823V | Missense | 10/28 | - | 3 |
7-11501672-C-A | c.2467G>T | p.A823S | Missense | 10/28 | - | 1 |
7-11501677-T-C | c.2462A>G | p.E821G | Missense | 10/28 | - | 1 |
7-11501681-C-A | c.2458G>T | p.E820* | Nonsense | 10/28 | - | 1 |
7-11501681-C-T | c.2458G>A | p.E820K | Missense | 10/28 | - | 7 |
7-11501683-T-C | c.2456A>G | p.Y819C | Missense | 10/28 | - | 4 |
7-11501686-A-G | c.2453T>C | p.L818P | Missense | 10/28 | - | 1 |
7-11501688-G-A | c.2451C>T | p.P817= | Synonymous | 10/28 | - | 1 |
7-11501689-G-A | c.2450C>T | p.P817L | Missense | 10/28 | - | 2 |
7-11501689-GG-AT | c.2449_2450delinsAT | p.P817I | Missense | 10/28 | - | 1 |
7-11501690-G-A | c.2449C>T | p.P817S | Missense | 10/28 | - | 2 |
7-11501693-C-CA | c.2445_2446insT | p.D816* | Nonsense | 10/28 | - | 1 |
7-11501698-C-A | c.2441G>T | p.C814F | Missense | 10/28 | - | 3 |
7-11501698-C-T | c.2441G>A | p.C814Y | Missense | 10/28 | - | 1 |
7-11501698-C-G | c.2441G>C | p.C814S | Missense | 10/28 | - | 2 |
7-11501699-A-T | c.2440T>A | p.C814S | Missense | 10/28 | - | 3 |
7-11501700-G-T | c.2439C>A | p.D813E | Missense | 10/28 | - | 1 |
7-11501704-C-A | c.2435G>T | p.R812L | Missense | 10/28 | - | 1 |
7-11501704-C-T | c.2435G>A | p.R812Q | Missense | 10/28 | - | 2 |
7-11501705-G-A | c.2434C>T | p.R812* | Nonsense | 10/28 | - | 1 |
7-11501707-C-A | c.2432G>T | p.G811V | Missense | 10/28 | - | 1 |
7-11501707-C-T | c.2432G>A | p.G811D | Missense | 10/28 | - | 1 |
7-11501708-C-T | c.2431G>A | p.G811S | Missense | 10/28 | - | 2 |
7-11501710-C-A | c.2429G>T | p.G810V | Missense | 10/28 | - | 2 |
7-11501711-C-A | c.2428G>T | p.G810W | Missense | 10/28 | - | 3 |
7-11501712-G-A | c.2427C>T | p.N809= | Synonymous | 10/28 | - | 3 |
7-11501716-G-A | c.2423C>T | p.A808V | Missense | 10/28 | - | 1 |
7-11501717-C-T | c.2422G>A | p.A808T | Missense | 10/28 | - | 1 |
7-11501718-T-A | c.2421A>T | p.P807= | Synonymous | 10/28 | - | 1 |
7-11501718-T-C | c.2421A>G | p.P807= | Synonymous | 10/28 | - | 1 |
7-11501718-T-G | c.2421A>C | p.P807= | Synonymous | 10/28 | - | 1 |
7-11501720-G-T | c.2419C>A | p.P807T | Missense | 10/28 | - | 5 |
7-11501728-A-G | c.2411T>C | p.I804T | Missense | 10/28 | - | 1 |
7-11501730-G-A | c.2409C>T | p.I803= | Synonymous | 10/28 | - | 1 |
7-11501730-G-T | c.2409C>A | p.I803= | Synonymous | 10/28 | - | 1 |
7-11501732-T-C | c.2407A>G | p.I803V | Missense | 10/28 | - | 1 |
7-11501733-G-T | c.2406C>A | p.V802= | Synonymous | 10/28 | - | 1 |
7-11501737-C-A | c.2402G>T | p.R801L | Missense | 10/28 | - | 3 |
7-11501737-CG-TA | c.2401_2402delinsTA | p.R801* | Nonsense | 10/28 | - | 1 |
7-11501737-C-T | c.2402G>A | p.R801Q | Missense | 10/28 | - | 1 |
7-11501738-G-A | c.2401C>T | p.R801W | Missense | 10/28 | - | 4 |
7-11501738-G-C | c.2401C>G | p.R801G | Missense | 10/28 | - | 1 |
7-11501742-CCT-ACA | c.2395_2397delinsTGT | p.R799C | Missense | 10/28 | - | 1 |
7-11501743-C-T | c.2396G>A | p.R799K | Missense | 10/28 | - | 2 |
7-11501754-C-T | c.2385G>A | p.R795= | Synonymous | 10/28 | - | 2 |
7-11501756-T-G | c.2383A>C | p.R795= | Synonymous | 10/28 | - | 2 |
7-11501763-G-A | c.2376C>T | p.S792= | Synonymous | 10/28 | - | 1 |
7-11501763-G-C | c.2376C>G | p.S792= | Synonymous | 10/28 | - | 1 |
7-11501763-G-T | c.2376C>A | p.S792= | Synonymous | 10/28 | - | 1 |
7-11501765-A-G | c.2374T>C | p.S792P | Missense | 10/28 | - | 1 |
7-11501768-C-G | c.2371G>C | p.D791H | Missense | 10/28 | - | 1 |
7-11501768-C-T | c.2371G>A | p.D791N | Missense | 10/28 | - | 1 |
7-11509438-A-G | c.2368+68T>C | - | IntronicSNV | - | 9/27 | 2 |
7-11509448-A-G | c.2368+58T>C | - | IntronicSNV | - | 9/27 | 1 |
7-11509504-A-G | c.2368+2T>C | - | IntronicSNV | - | 9/27 | 1 |
7-11509509-CTT-C | c.2363_2364del | p.K788Rfs*11 | Frameshift | 9/28 | - | 1 |
7-11509516-C-A | c.2358G>T | p.S786= | Synonymous | 9/28 | - | 3 |
7-11509516-C-G | c.2358G>C | p.S786= | Synonymous | 9/28 | - | 3 |
7-11509516-C-T | c.2358G>A | p.S786= | Synonymous | 9/28 | - | 4 |
7-11509517-G-A | c.2357C>T | p.S786L | Missense | 9/28 | - | 5 |
7-11509522-G-A | c.2352C>T | p.P784= | Synonymous | 9/28 | - | 2 |
7-11509522-G-C | c.2352C>G | p.P784= | Synonymous | 9/28 | - | 2 |
7-11509522-G-T | c.2352C>A | p.P784= | Synonymous | 9/28 | - | 2 |
7-11509538-T-C | c.2336A>G | p.D779G | Missense | 9/28 | - | 2 |
7-11509539-C-A | c.2335G>T | p.D779Y | Missense | 9/28 | - | 1 |
7-11509541-CT-AG | c.2332_2333inv | p.S778L | Missense | 9/28 | - | 1 |
7-11509544-T-C | c.2330A>G | p.Y777C | Missense | 9/28 | - | 1 |
7-11509548-G-A | c.2326C>T | p.P776S | Missense | 9/28 | - | 2 |
7-11509549-GG-CA | c.2324_2325delinsTG | p.T775M | Missense | 9/28 | - | 1 |
7-11509551-T-C | c.2323A>G | p.T775A | Missense | 9/28 | - | 1 |
7-11509559-C-A | c.2315G>T | p.C772F | Missense | 9/28 | - | 4 |
7-11509561-G-A | c.2313C>T | p.D771= | Synonymous | 9/28 | - | 7 |
7-11509561-G-C | c.2313C>G | p.D771E | Missense | 9/28 | - | 31 |
7-11509561-G-T | c.2313C>A | p.D771E | Missense | 9/28 | - | 28 |
7-11509563-C-T | c.2311G>A | p.D771N | Missense | 9/28 | - | 1 |
7-11509564-C-T | c.2310G>A | p.K770= | Synonymous | 9/28 | - | 1 |
7-11509574-G-A | c.2300C>T | p.P767L | Missense | 9/28 | - | 1 |
7-11509578-G-A | c.2296C>T | p.L766F | Missense | 9/28 | - | 4 |
7-11509578-G-T | c.2296C>A | p.L766I | Missense | 9/28 | - | 1 |
7-11509584-A-G | c.2290T>C | p.C764R | Missense | 9/28 | - | 1 |
7-11509590-T-TA | c.2283_2284insT | p.R762* | Nonsense | 9/28 | - | 1 |
7-11509599-C-G | c.2275G>C | p.E759Q | Missense | 9/28 | - | 1 |
7-11509604-C-T | c.2270G>A | p.R757Q | Missense | 9/28 | - | 2 |
7-11509605-G-A | c.2269C>T | p.R757* | Nonsense | 9/28 | - | 1 |
7-11509606-A-C | c.2268T>G | p.L756= | Synonymous | 9/28 | - | 1 |
7-11509606-A-G | c.2268T>C | p.L756= | Synonymous | 9/28 | - | 1 |
7-11509606-A-T | c.2268T>A | p.L756= | Synonymous | 9/28 | - | 1 |
7-11509607-A-T | c.2267T>A | p.L756H | Missense | 9/28 | - | 1 |
7-11509614-C-T | c.2260G>A | p.E754K | Missense | 9/28 | - | 1 |
7-11509615-A-T | c.2259T>A | p.P753= | Synonymous | 9/28 | - | 1 |
7-11509616-G-T | c.2258C>A | p.P753H | Missense | 9/28 | - | 1 |
7-11512876-A-AT | c.2252+1084dup | - | IntronicInsertion | - | 8/27 | 1 |
7-11513968-G-T | c.2245C>A | p.P749T | Missense | 8/28 | - | 2 |
7-11513971-C-T | c.2242G>A | p.G748R | Missense | 8/28 | - | 1 |
7-11513975-T-G | c.2238A>C | p.Q746H | Missense | 8/28 | - | 3 |
7-11513978-GCC-TCA | c.2233_2235delinsTGA | p.G745* | Nonsense | 8/28 | - | 1 |
7-11513985-T-C | c.2228A>G | p.N743S | Missense | 8/28 | - | 1 |
7-11513991-C-T | c.2222G>A | p.R741Q | Missense | 8/28 | - | 4 |
7-11513990-T-A | c.2223A>T | p.R741= | Synonymous | 8/28 | - | 1 |
7-11513990-T-C | c.2223A>G | p.R741= | Synonymous | 8/28 | - | 1 |
7-11513990-T-G | c.2223A>C | p.R741= | Synonymous | 8/28 | - | 1 |
7-11513992-G-A | c.2221C>T | p.R741* | Nonsense | 8/28 | - | 3 |
7-11513992-G-T | c.2221C>A | p.R741= | Synonymous | 8/28 | - | 1 |
7-11513999-G-A | c.2214C>T | p.I738= | Synonymous | 8/28 | - | 3 |
7-11514005-T-A | c.2208A>T | p.K736N | Missense | 8/28 | - | 2 |
7-11514005-T-G | c.2208A>C | p.K736N | Missense | 8/28 | - | 3 |
7-11514009-C-A | c.2204G>T | p.R735I | Missense | 8/28 | - | 4 |
7-11514012-G-C | c.2201C>G | p.T734R | Missense | 8/28 | - | 1 |
7-11514014-C-A | c.2199G>T | p.Q733H | Missense | 8/28 | - | 1 |
7-11514014-C-G | c.2199G>C | p.Q733H | Missense | 8/28 | - | 1 |
7-11514018-A-G | c.2195T>C | p.M732T | Missense | 8/28 | - | 1 |
7-11514021-C-T | c.2192G>A | p.G731D | Missense | 8/28 | - | 3 |
7-11514022-C-A | c.2191G>T | p.G731C | Missense | 8/28 | - | 1 |
7-11514022-C-T | c.2191G>A | p.G731S | Missense | 8/28 | - | 4 |
7-11514023-G-A | c.2190C>T | p.V730= | Synonymous | 8/28 | - | 1 |
7-11514023-G-C | c.2190C>G | p.V730= | Synonymous | 8/28 | - | 1 |
7-11514023-G-T | c.2190C>A | p.V730= | Synonymous | 8/28 | - | 1 |
7-11514027-G-A | c.2186C>T | p.S729F | Missense | 8/28 | - | 3 |
7-11514029-G-A | c.2184C>T | p.C728= | Synonymous | 8/28 | - | 1 |
7-11514030-C-A | c.2183G>T | p.C728F | Missense | 8/28 | - | 4 |
7-11514039-T-G | c.2174A>C | p.E725A | Missense | 8/28 | - | 1 |
7-11514040-C-T | c.2173G>A | p.E725K | Missense | 8/28 | - | 1 |
7-11514042-C-A | c.2171G>T | p.G724V | Missense | 8/28 | - | 1 |
7-11514043-C-A | c.2170G>T | p.G724W | Missense | 8/28 | - | 1 |
7-11514045-T-C | c.2168A>G | p.N723S | Missense | 8/28 | - | 1 |
7-11514049-A-G | c.2164T>C | p.W722R | Missense | 8/28 | - | 1 |
7-11514053-C-T | c.2160G>A | p.T720= | Synonymous | 8/28 | - | 6 |
7-11514054-G-A | c.2159C>T | p.T720M | Missense | 8/28 | - | 5 |
7-11514055-T-C | c.2158A>G | p.T720A | Missense | 8/28 | - | 2 |
7-11514078-G-A | c.2135C>T | p.S712L | Missense | 8/28 | - | 2 |
7-11514080-G-A | c.2133C>T | p.T711= | Synonymous | 8/28 | - | 1 |
7-11514080-G-C | c.2133C>G | p.T711= | Synonymous | 8/28 | - | 1 |
7-11514080-G-T | c.2133C>A | p.T711= | Synonymous | 8/28 | - | 1 |
7-11514081-G-C | c.2132C>G | p.T711S | Missense | 8/28 | - | 1 |
7-11514082-T-C | c.2131A>G | p.T711A | Missense | 8/28 | - | 1 |
7-11514083-G-A | c.2130C>T | p.D710= | Synonymous | 8/28 | - | 1 |
7-11514088-C-G | c.2125G>C | p.E709Q | Missense | 8/28 | - | 1 |
7-11514090-A-G | c.2123T>C | p.I708T | Missense | 8/28 | - | 1 |
7-11514095-C-T | c.2118G>A | p.Q706= | Synonymous | 8/28 | - | 1 |
7-11514100-C-A | c.2113G>T | p.G705C | Missense | 8/28 | - | 1 |
7-11514100-C-T | c.2113G>A | p.G705S | Missense | 8/28 | - | 2 |
7-11514101-C-T | c.2112G>A | p.W704* | Nonsense | 8/28 | - | 1 |
7-11514102-C-T | c.2111G>A | p.W704* | Nonsense | 8/28 | - | 1 |
7-11514105-G-A | c.2108C>T | p.P703L | Missense | 8/28 | - | 1 |
7-11514105-G-T | c.2108C>A | p.P703H | Missense | 8/28 | - | 2 |
7-11514108-C-T | c.2105G>A | p.G702D | Missense | 8/28 | - | 1 |
7-11514115-G-T | c.2098C>A | p.Q700K | Missense | 8/28 | - | 1 |
7-11514117-C-T | c.2096G>A | p.W699* | Nonsense | 8/28 | - | 1 |
7-11514123-T-C | c.2090A>G | p.Y697C | Missense | 8/28 | - | 1 |
7-11514124-A-T | c.2089T>A | p.Y697N | Missense | 8/28 | - | 1 |
7-11514131-G-C | c.2082C>G | p.C694W | Missense | 8/28 | - | 1 |
7-11514131-G-T | c.2082C>A | p.C694* | Nonsense | 8/28 | - | 4 |
7-11514132-C-A | c.2081G>T | p.C694F | Missense | 8/28 | - | 2 |
7-11514132-C-T | c.2081G>A | p.C694Y | Missense | 8/28 | - | 1 |
7-11514135-G-C | c.2078C>G | p.P693R | Missense | 8/28 | - | 1 |
7-11514135-G-T | c.2078C>A | p.P693H | Missense | 8/28 | - | 2 |
7-11514138-T-A | c.2075A>T | p.H692L | Missense | 8/28 | - | 2 |
7-11514144-T-C | c.2069A>G | p.N690S | Missense | 8/28 | - | 1 |
7-11514150-CT-AG | c.2062_2063inv | p.S688L | Missense | 8/28 | - | 1 |
7-11514150-C-CT | c.2062dup | p.S688Kfs*3 | Frameshift | 8/28 | - | 1 |
7-11514154-G-A | c.2059C>T | p.R687* | Nonsense | 8/28 | - | 3 |
7-11514154-G-T | c.2059C>A | p.R687= | Synonymous | 8/28 | - | 1 |
7-11514155-T-C | c.2058A>G | p.V686= | Synonymous | 8/28 | - | 1 |
7-11514157-C-T | c.2056G>A | p.V686I | Missense | 8/28 | - | 1 |
7-11514158-T-A | c.2055A>T | p.E685D | Missense | 8/28 | - | 1 |
7-11514158-T-G | c.2055A>C | p.E685D | Missense | 8/28 | - | 3 |
7-11514168-G-A | c.2045C>T | p.A682V | Missense | 8/28 | - | 1 |
7-11514169-C-A | c.2044G>T | p.A682S | Missense | 8/28 | - | 1 |
7-11514174-C-T | c.2039G>A | p.S680N | Missense | 8/28 | - | 1 |
7-11514176-A-G | c.2037T>C | p.N679= | Synonymous | 8/28 | - | 1 |
7-11514180-G-T | c.2033C>A | p.P678Q | Missense | 8/28 | - | 1 |
7-11514183-CA-GT | c.2029_2030delinsAC | p.C677T | Missense | 8/28 | - | 3 |
7-11514185-GCG-CTT | c.2026_2028delinsAAG | p.R676K | Missense | 8/28 | - | 1 |
7-11514186-C-T | c.2027G>A | p.R676H | Missense | 8/28 | - | 1 |
7-11514187-G-A | c.2026C>T | p.R676C | Missense | 8/28 | - | 1 |
7-11514192-C-A | c.2021G>T | p.G674V | Missense | 8/28 | - | 3 |
7-11514193-C-G | c.2020G>C | p.G674R | Missense | 8/28 | - | 1 |
7-11514193-C-T | c.2020G>A | p.G674R | Missense | 8/28 | - | 3 |
7-11517770-T-C | c.2018-3575A>G | - | IntronicSNV | - | 7/27 | 1 |
7-11517874-G-C | c.2017+3541C>G | - | IntronicSNV | - | 7/27 | 1 |
7-11521381-C-T | c.2017+34G>A | - | IntronicSNV | - | 7/27 | 1 |
7-11521382-G-A | c.2017+33C>T | - | IntronicSNV | - | 7/27 | 1 |
7-11521394-C-T | c.2017+21G>A | - | IntronicSNV | - | 7/27 | 1 |
7-11521416-T-G | c.2016A>C | p.E672D | Missense | 7/28 | - | 1 |
7-11521418-C-G | c.2014G>C | p.E672Q | Missense | 7/28 | - | 2 |
7-11521419-T-C | c.2013A>G | p.E671= | Synonymous | 7/28 | - | 1 |
7-11521423-C-A | c.2009G>T | p.G670V | Missense | 7/28 | - | 1 |
7-11521423-C-T | c.2009G>A | p.G670D | Missense | 7/28 | - | 5 |
7-11521424-C-A | c.2008G>T | p.G670C | Missense | 7/28 | - | 1 |
7-11521424-C-T | c.2008G>A | p.G670S | Missense | 7/28 | - | 3 |
7-11521425-C-A | c.2007G>T | p.A669= | Synonymous | 7/28 | - | 1 |
7-11521426-G-A | c.2006C>T | p.A669V | Missense | 7/28 | - | 7 |
7-11521427-C-G | c.2005G>C | p.A669P | Missense | 7/28 | - | 1 |
7-11521428-A-G | c.2004T>C | p.Y668= | Synonymous | 7/28 | - | 3 |
7-11521431-G-A | c.2001C>T | p.A667= | Synonymous | 7/28 | - | 2 |
7-11521431-G-C | c.2001C>G | p.A667= | Synonymous | 7/28 | - | 2 |
7-11521431-G-T | c.2001C>A | p.A667= | Synonymous | 7/28 | - | 3 |
7-11521432-G-A | c.2000C>T | p.A667V | Missense | 7/28 | - | 1 |
7-11521436-G-C | c.1996C>G | p.L666V | Missense | 7/28 | - | 1 |
7-11521436-G-T | c.1996C>A | p.L666M | Missense | 7/28 | - | 1 |
7-11521440-G-A | c.1992C>T | p.S664= | Synonymous | 7/28 | - | 2 |
7-11521440-G-C | c.1992C>G | p.S664= | Synonymous | 7/28 | - | 1 |
7-11521440-G-T | c.1992C>A | p.S664= | Synonymous | 7/28 | - | 1 |
7-11521441-G-A | c.1991C>T | p.S664F | Missense | 7/28 | - | 3 |
7-11521442-A-G | c.1990T>C | p.S664P | Missense | 7/28 | - | 1 |
7-11521443-TCG-ACA | c.1987_1989delinsTGT | p.R663C | Missense | 7/28 | - | 1 |
7-11521443-TCG-CAT | c.1987_1989delinsATG | p.R663M | Missense | 7/28 | - | 1 |
7-11521444-C-T | c.1988G>A | p.R663Q | Missense | 7/28 | - | 7 |
7-11521445-G-A | c.1987C>T | p.R663* | Nonsense | 7/28 | - | 2 |
7-11521448-C-T | c.1984G>A | p.A662T | Missense | 7/28 | - | 2 |
7-11521450-C-A | c.1982G>T | p.R661L | Missense | 7/28 | - | 1 |
7-11521450-C-T | c.1982G>A | p.R661Q | Missense | 7/28 | - | 1 |
7-11521451-G-A | c.1981C>T | p.R661* | Nonsense | 7/28 | - | 7 |
7-11521455-C-T | c.1977G>A | p.Q659= | Synonymous | 7/28 | - | 2 |
7-11521456-T-G | c.1976A>C | p.Q659P | Missense | 7/28 | - | 1 |
7-11521457-G-A | c.1975C>T | p.Q659* | Nonsense | 7/28 | - | 1 |
7-11521461-C-A | c.1971G>T | p.G657= | Synonymous | 7/28 | - | 1 |
7-11521461-C-G | c.1971G>C | p.G657= | Synonymous | 7/28 | - | 1 |
7-11521461-C-T | c.1971G>A | p.G657= | Synonymous | 7/28 | - | 1 |
7-11521463-C-T | c.1969G>A | p.G657R | Missense | 7/28 | - | 1 |
7-11521470-C-A | c.1962G>T | p.T654= | Synonymous | 7/28 | - | 2 |
7-11521471-G-A | c.1961C>T | p.T654M | Missense | 7/28 | - | 10 |
7-11521472-T-C | c.1960A>G | p.T654A | Missense | 7/28 | - | 1 |
7-11521473-T-C | c.1959A>G | p.K653= | Synonymous | 7/28 | - | 1 |
7-11521476-C-A | c.1956G>T | p.G652= | Synonymous | 7/28 | - | 1 |
7-11521477-C-T | c.1955G>A | p.G652E | Missense | 7/28 | - | 1 |
7-11521483-C-T | c.1949G>A | p.C650Y | Missense | 7/28 | - | 1 |
7-11521485-G-T | c.1947C>A | p.T649= | Synonymous | 7/28 | - | 1 |
7-11521488-G-A | c.1944C>T | p.H648= | Synonymous | 7/28 | - | 1 |
7-11521489-T-G | c.1943A>C | p.H648P | Missense | 7/28 | - | 1 |
7-11521492-G-T | c.1940C>A | p.S647* | Nonsense | 7/28 | - | 1 |
7-11521503-C-A | c.1929G>T | p.W643C | Missense | 7/28 | - | 1 |
7-11521506-C-A | c.1926G>T | p.T642= | Synonymous | 7/28 | - | 2 |
7-11521506-C-G | c.1926G>C | p.T642= | Synonymous | 7/28 | - | 3 |
7-11521506-C-T | c.1926G>A | p.T642= | Synonymous | 7/28 | - | 4 |
7-11521507-G-A | c.1925C>T | p.T642M | Missense | 7/28 | - | 1 |
7-11521508-T-G | c.1924A>C | p.T642P | Missense | 7/28 | - | 2 |
7-11521509-A-C | c.1923T>G | p.S641= | Synonymous | 7/28 | - | 1 |
7-11521509-A-G | c.1923T>C | p.S641= | Synonymous | 7/28 | - | 1 |
7-11521509-A-T | c.1923T>A | p.S641= | Synonymous | 7/28 | - | 1 |
7-11521510-G-A | c.1922C>T | p.S641F | Missense | 7/28 | - | 3 |
7-11521519-C-A | c.1913G>T | p.S638I | Missense | 7/28 | - | 3 |
7-11521523-G-A | c.1909C>T | p.L637F | Missense | 7/28 | - | 2 |
7-11521532-C-T | c.1900G>A | p.D634N | Missense | 7/28 | - | 1 |
7-11521536-C-A | c.1896G>T | p.P632= | Synonymous | 7/28 | - | 3 |
7-11521536-C-G | c.1896G>C | p.P632= | Synonymous | 7/28 | - | 2 |
7-11521536-C-T | c.1896G>A | p.P632= | Synonymous | 7/28 | - | 2 |
7-11521537-G-A | c.1895C>T | p.P632L | Missense | 7/28 | - | 4 |
7-11521539-G-C | c.1893C>G | p.C631W | Missense | 7/28 | - | 1 |
7-11521542-T-A | c.1890A>T | p.P630= | Synonymous | 7/28 | - | 13 |
7-11521542-T-C | c.1890A>G | p.P630= | Synonymous | 7/28 | - | 14 |
7-11521542-T-G | c.1890A>C | p.P630= | Synonymous | 7/28 | - | 5 |
7-11521544-G-T | c.1888C>A | p.P630T | Missense | 7/28 | - | 1 |
7-11521546-G-A | c.1886C>T | p.A629V | Missense | 7/28 | - | 2 |
7-11521546-G-C | c.1886C>G | p.A629G | Missense | 7/28 | - | 2 |
7-11521547-C-A | c.1885G>T | p.A629S | Missense | 7/28 | - | 1 |
7-11521554-G-A | c.1878C>T | p.A626= | Synonymous | 7/28 | - | 1 |
7-11521554-G-C | c.1878C>G | p.A626= | Synonymous | 7/28 | - | 1 |
7-11521554-G-T | c.1878C>A | p.A626= | Synonymous | 7/28 | - | 1 |
7-11521555-G-T | c.1877C>A | p.A626D | Missense | 7/28 | - | 1 |
7-11521561-G-A | c.1871C>T | p.P624L | Missense | 7/28 | - | 1 |
7-11521561-G-T | c.1871C>A | p.P624H | Missense | 7/28 | - | 1 |
7-11521563-G-A | c.1869C>T | p.I623= | Synonymous | 7/28 | - | 1 |
7-11521567-GG-TT | c.1864_1865delinsAA | p.P622N | Missense | 7/28 | - | 1 |
7-11521568-G-T | c.1864C>A | p.P622T | Missense | 7/28 | - | 1 |
7-11521576-G-A | c.1856C>T | p.A619V | Missense | 7/28 | - | 3 |
7-11521582-C-G | c.1850G>C | p.R617T | Missense | 7/28 | - | 3 |
7-11521584-G-T | c.1848C>A | p.C616* | Nonsense | 7/28 | - | 2 |
7-11521587-C-A | c.1845G>T | p.L615= | Synonymous | 7/28 | - | 2 |
7-11521587-C-G | c.1845G>C | p.L615= | Synonymous | 7/28 | - | 1 |
7-11521587-C-T | c.1845G>A | p.L615= | Synonymous | 7/28 | - | 1 |
7-11521589-G-A | c.1843C>T | p.L615= | Synonymous | 7/28 | - | 1 |
7-11521593-TCT-ATG | c.1837_1839delinsCAT | p.R613H | Missense | 7/28 | - | 1 |
7-11521594-C-T | c.1838G>A | p.R613K | Missense | 7/28 | - | 2 |
7-11521595-T-A | c.1837A>T | p.R613* | Nonsense | 7/28 | - | 2 |
7-11521605-T-G | c.1827A>C | p.E609D | Missense | 7/28 | - | 4 |
7-11521606-T-C | c.1826A>G | p.E609G | Missense | 7/28 | - | 1 |
7-11521608-T-A | c.1824A>T | p.G608= | Synonymous | 7/28 | - | 1 |
7-11521941-C-T | c.1823-332G>A | - | IntronicSNV | - | 6/27 | 1 |
7-11528233-T-C | c.1823-6624A>G | - | IntronicSNV | - | 6/27 | 1 |
7-11528500-C-A | c.1823-6891G>T | - | IntronicSNV | - | 6/27 | 2 |
7-11534902-T-C | c.1823-13293A>G | - | IntronicSNV | - | 6/27 | 1 |
7-11554096-A-G | c.1822+26950T>C | - | IntronicSNV | - | 6/27 | 1 |
7-11555373-C-T | c.1822+25673G>A | - | IntronicSNV | - | 6/27 | 1 |
7-11555852-G-T | c.1822+25194C>A | - | IntronicSNV | - | 6/27 | 1 |
7-11558248-G-A | c.1822+22798C>T | - | IntronicSNV | - | 6/27 | 1 |
7-11559580-T-C | c.1822+21466A>G | - | IntronicSNV | - | 6/27 | 1 |
7-11562352-C-T | c.1822+18694G>A | - | IntronicSNV | - | 6/27 | 1 |
7-11564385-C-G | c.1822+16661G>C | - | IntronicSNV | - | 6/27 | 2 |
7-11566980-TA-T | c.1822+14065del | - | IntronicDeletion | - | 6/27 | 1 |
7-11567275-A-C | c.1822+13771T>G | - | IntronicSNV | - | 6/27 | 1 |
7-11567275-A-G | c.1822+13771T>C | - | IntronicSNV | - | 6/27 | 1 |
7-11567370-A-G | c.1822+13676T>C | - | IntronicSNV | - | 6/27 | 1 |
7-11568530-G-A | c.1822+12516C>T | - | IntronicSNV | - | 6/27 | 1 |
7-11569734-A-G | c.1822+11312T>C | - | IntronicSNV | - | 6/27 | 1 |
7-11574137-G-A | c.1822+6909C>T | - | IntronicSNV | - | 6/27 | 1 |
7-11577480-C-A | c.1822+3566G>T | - | IntronicSNV | - | 6/27 | 1 |
7-11577542-C-T | c.1822+3504G>A | - | IntronicSNV | - | 6/27 | 1 |
7-11580711-A-T | c.1822+335T>A | - | IntronicSNV | - | 6/27 | 1 |
7-11580770-C-T | c.1822+276G>A | - | IntronicSNV | - | 6/27 | 1 |
7-11580819-T-A | c.1822+227A>T | - | IntronicSNV | - | 6/27 | 1 |
7-11580903-A-G | c.1822+143T>C | - | IntronicSNV | - | 6/27 | 2 |
7-11580910-G-A | c.1822+136C>T | - | IntronicSNV | - | 6/27 | 1 |
7-11581003-G-A | c.1822+43C>T | - | IntronicSNV | - | 6/27 | 5 |
7-11581040-T-C | c.1822+6A>G | - | IntronicSNV | - | 6/27 | 1 |
7-11581049-C-T | c.1819G>A | p.D607N | Missense | 6/28 | - | 1 |
7-11581053-G-C | c.1815C>G | p.N605K | Missense | 6/28 | - | 1 |
7-11581053-G-T | c.1815C>A | p.N605K | Missense | 6/28 | - | 1 |
7-11581055-T-A | c.1813A>T | p.N605Y | Missense | 6/28 | - | 1 |
7-11581057-A-C | c.1811T>G | p.I604S | Missense | 6/28 | - | 2 |
7-11581057-A-G | c.1811T>C | p.I604T | Missense | 6/28 | - | 1 |
7-11581062-CAC-GAT | c.1804_1806delinsATC | p.V602I | Missense | 6/28 | - | 1 |
7-11581069-T-G | c.1799A>C | p.E600A | Missense | 6/28 | - | 1 |
7-11581073-G-A | c.1795C>T | p.Q599* | Nonsense | 6/28 | - | 1 |
7-11581073-G-T | c.1795C>A | p.Q599K | Missense | 6/28 | - | 2 |
7-11581080-C-T | c.1788G>A | p.T596= | Synonymous | 6/28 | - | 1 |
7-11581081-G-A | c.1787C>T | p.T596M | Missense | 6/28 | - | 2 |
7-11581081-G-T | c.1787C>A | p.T596K | Missense | 6/28 | - | 1 |
7-11581083-G-A | c.1785C>T | p.G595= | Synonymous | 6/28 | - | 1 |
7-11581084-C-T | c.1784G>A | p.G595D | Missense | 6/28 | - | 1 |
7-11581087-G-A | c.1781C>T | p.P594L | Missense | 6/28 | - | 1 |
7-11581087-G-C | c.1781C>G | p.P594R | Missense | 6/28 | - | 1 |
7-11581089-A-C | c.1779T>G | p.G593= | Synonymous | 6/28 | - | 1 |
7-11581089-AC-CT | c.1778_1779delinsAG | p.G593E | Missense | 6/28 | - | 1 |
7-11581089-A-G | c.1779T>C | p.G593= | Synonymous | 6/28 | - | 1 |
7-11581089-A-T | c.1779T>A | p.G593= | Synonymous | 6/28 | - | 1 |
7-11581097-C-A | c.1771G>T | p.E591* | Nonsense | 6/28 | - | 1 |
7-11581097-C-T | c.1771G>A | p.E591K | Missense | 6/28 | - | 3 |
7-11581102-C-T | c.1766G>A | p.G589E | Missense | 6/28 | - | 1 |
7-11581103-C-G | c.1765G>C | p.G589R | Missense | 6/28 | - | 3 |
7-11581103-C-T | c.1765G>A | p.G589R | Missense | 6/28 | - | 4 |
7-11581104-G-A | c.1764C>T | p.N588= | Synonymous | 6/28 | - | 4 |
7-11581105-T-G | c.1763A>C | p.N588T | Missense | 6/28 | - | 1 |
7-11581109-C-T | c.1759G>A | p.D587N | Missense | 6/28 | - | 1 |
7-11581111-G-T | c.1757C>A | p.P586Q | Missense | 6/28 | - | 1 |
7-11581112-G-T | c.1756C>A | p.P586T | Missense | 6/28 | - | 1 |
7-11581115-C-T | c.1753G>A | p.E585K | Missense | 6/28 | - | 4 |
7-11581116-G-A | c.1752C>T | p.C584= | Synonymous | 6/28 | - | 1 |
7-11581117-C-T | c.1751G>A | p.C584Y | Missense | 6/28 | - | 1 |
7-11581118-A-G | c.1750T>C | p.C584R | Missense | 6/28 | - | 1 |
7-11581119-G-A | c.1749C>T | p.N583= | Synonymous | 6/28 | - | 1 |
7-11581121-T-C | c.1747A>G | p.N583D | Missense | 6/28 | - | 31 |
7-11581121-T-G | c.1747A>C | p.N583H | Missense | 6/28 | - | 1 |
7-11581123-C-T | c.1745G>A | p.G582E | Missense | 6/28 | - | 1 |
7-11581131-C-T | c.1737G>A | p.V579= | Synonymous | 6/28 | - | 1 |
7-11581134-T-A | c.1734A>T | p.A578= | Synonymous | 6/28 | - | 12 |
7-11581134-T-C | c.1734A>G | p.A578= | Synonymous | 6/28 | - | 16 |
7-11581134-T-G | c.1734A>C | p.A578= | Synonymous | 6/28 | - | 1 |
7-11581145-C-T | c.1723G>A | p.D575N | Missense | 6/28 | - | 2 |
7-11581157-G-A | c.1711C>T | p.P571S | Missense | 6/28 | - | 2 |
7-11581160-C-T | c.1708G>A | p.E570K | Missense | 6/28 | - | 2 |
7-11581161-T-A | c.1707A>T | p.E569D | Missense | 6/28 | - | 2 |
7-11581161-T-G | c.1707A>C | p.E569D | Missense | 6/28 | - | 2 |
7-11581163-C-T | c.1705G>A | p.E569K | Missense | 6/28 | - | 4 |
7-11581165-C-T | c.1703G>A | p.C568Y | Missense | 6/28 | - | 1 |
7-11581167-G-A | c.1701C>T | p.P567= | Synonymous | 6/28 | - | 1 |
7-11581167-G-C | c.1701C>G | p.P567= | Synonymous | 6/28 | - | 1 |
7-11581167-G-T | c.1701C>A | p.P567= | Synonymous | 6/28 | - | 2 |
7-11581169-G-A | c.1699C>T | p.P567S | Missense | 6/28 | - | 4 |
7-11581169-G-T | c.1699C>A | p.P567T | Missense | 6/28 | - | 1 |
7-11581176-T-A | c.1692A>T | p.E564D | Missense | 6/28 | - | 1 |
7-11581176-T-G | c.1692A>C | p.E564D | Missense | 6/28 | - | 1 |
7-11581178-C-T | c.1690G>A | p.E564K | Missense | 6/28 | - | 4 |
7-11581185-G-A | c.1683C>T | p.H561= | Synonymous | 6/28 | - | 1 |
7-11581192-C-A | c.1676G>T | p.C559F | Missense | 6/28 | - | 2 |
7-11581192-C-T | c.1676G>A | p.C559Y | Missense | 6/28 | - | 3 |
7-11581193-A-G | c.1675T>C | p.C559R | Missense | 6/28 | - | 1 |
7-11581198-C-A | c.1670G>T | p.G557V | Missense | 6/28 | - | 1 |
7-11581198-C-T | c.1670G>A | p.G557E | Missense | 6/28 | - | 1 |
7-11581199-C-G | c.1669G>C | p.G557R | Missense | 6/28 | - | 1 |
7-11581199-C-T | c.1669G>A | p.G557R | Missense | 6/28 | - | 2 |
7-11581200-G-A | c.1668C>T | p.T556= | Synonymous | 6/28 | - | 2 |
7-11581201-G-C | c.1667C>G | p.T556S | Missense | 6/28 | - | 1 |
7-11581202-T-C | c.1666A>G | p.T556A | Missense | 6/28 | - | 1 |
7-11581205-C-A | c.1663G>T | p.V555L | Missense | 6/28 | - | 1 |
7-11581205-C-G | c.1663G>C | p.V555L | Missense | 6/28 | - | 1 |
7-11581206-CCC-GCT | c.1660_1662delinsAGC | p.G554S | Missense | 6/28 | - | 1 |
7-11581206-C-G | c.1662G>C | p.G554= | Synonymous | 6/28 | - | 3 |
7-11581210-G-A | c.1658C>T | p.S553F | Missense | 6/28 | - | 1 |
7-11581210-G-C | c.1658C>G | p.S553C | Missense | 6/28 | - | 1 |
7-11581213-C-A | c.1655G>T | p.G552V | Missense | 6/28 | - | 1 |
7-11581214-C-A | c.1654G>T | p.G552C | Missense | 6/28 | - | 1 |
7-11581214-C-G | c.1654G>C | p.G552R | Missense | 6/28 | - | 1 |
7-11581216-C-T | c.1652G>A | p.G551E | Missense | 6/28 | - | 1 |
7-11581217-C-A | c.1651G>T | p.G551* | Nonsense | 6/28 | - | 1 |
7-11581223-G-A | c.1645C>T | p.P549S | Missense | 6/28 | - | 1 |
7-11581223-G-T | c.1645C>A | p.P549T | Missense | 6/28 | - | 1 |
7-11581224-C-A | c.1644G>T | p.E548D | Missense | 6/28 | - | 3 |
7-11581224-C-G | c.1644G>C | p.E548D | Missense | 6/28 | - | 2 |
7-11581226-C-A | c.1642G>T | p.E548* | Nonsense | 6/28 | - | 3 |
7-11581228-T-C | c.1640A>G | p.N547S | Missense | 6/28 | - | 1 |
7-11581231-G-A | c.1637C>T | p.T546I | Missense | 6/28 | - | 1 |
7-11581232-T-G | c.1636A>C | p.T546P | Missense | 6/28 | - | 2 |
7-11581236-TG-T | c.1632del | p.I545Lfs*11 | Frameshift | 6/28 | - | 1 |
7-11581237-C-T | c.1631G>A | p.R544H | Missense | 6/28 | - | 10 |
7-11581238-G-A | c.1630C>T | p.R544C | Missense | 6/28 | - | 7 |
7-11581241-G-A | c.1627C>T | p.R543W | Missense | 6/28 | - | 3 |
7-11581244-T-A | c.1624A>T | p.K542* | Nonsense | 6/28 | - | 1 |
7-11581253-T-A | c.1615A>T | p.K539* | Nonsense | 6/28 | - | 1 |
7-11581254-G-A | c.1614C>T | p.F538= | Synonymous | 6/28 | - | 3 |
7-11581254-G-T | c.1614C>A | p.F538L | Missense | 6/28 | - | 1 |
7-11581256-A-T | c.1612T>A | p.F538I | Missense | 6/28 | - | 1 |
7-11581257-G-A | c.1611C>T | p.G537= | Synonymous | 6/28 | - | 1 |
7-11581258-C-T | c.1610G>A | p.G537D | Missense | 6/28 | - | 2 |
7-11581381-G-A | c.1610-123C>T | - | IntronicSNV | - | 5/27 | 2 |
7-11582515-G-C | c.1609+74C>G | - | IntronicSNV | - | 5/27 | 1 |
7-11582589-C-T | c.1609G>A | p.G537S | Missense | 5/28 | - | 1 |
7-11582590-T-G | c.1608A>C | p.K536N | Missense | 5/28 | - | 2 |
7-11582589-CT-C | c.1608del | p.G537Afs*4 | Frameshift | 5/28 | - | 1 |
7-11582595-T-C | c.1603A>G | p.K535E | Missense | 5/28 | - | 1 |
7-11582596-C-A | c.1602G>T | p.G534= | Synonymous | 5/28 | - | 1 |
7-11582596-C-G | c.1602G>C | p.G534= | Synonymous | 5/28 | - | 1 |
7-11582596-C-T | c.1602G>A | p.G534= | Synonymous | 5/28 | - | 5 |
7-11582597-C-T | c.1601G>A | p.G534E | Missense | 5/28 | - | 2 |
7-11582598-C-T | c.1600G>A | p.G534R | Missense | 5/28 | - | 1 |
7-11582602-C-A | c.1596G>T | p.Q532H | Missense | 5/28 | - | 7 |
7-11582602-C-G | c.1596G>C | p.Q532H | Missense | 5/28 | - | 5 |
7-11582607-C-T | c.1591G>A | p.D531N | Missense | 5/28 | - | 2 |
7-11582609-T-C | c.1589A>G | p.N530S | Missense | 5/28 | - | 1 |
7-11582609-T-G | c.1589A>C | p.N530T | Missense | 5/28 | - | 1 |
7-11582619-C-T | c.1579G>A | p.E527K | Missense | 5/28 | - | 3 |
7-11582620-A-G | c.1578T>C | p.Y526= | Synonymous | 5/28 | - | 3 |
7-11582623-A-C | c.1575T>G | p.T525= | Synonymous | 5/28 | - | 2 |
7-11582624-G-T | c.1574C>A | p.T525N | Missense | 5/28 | - | 1 |
7-11582626-A-G | c.1572T>C | p.C524= | Synonymous | 5/28 | - | 1 |
7-11582630-G-T | c.1568C>A | p.P523H | Missense | 5/28 | - | 2 |
7-11582631-G-T | c.1567C>A | p.P523T | Missense | 5/28 | - | 1 |
7-11582632-T-C | c.1566A>G | p.G522= | Synonymous | 5/28 | - | 1 |
7-11582634-C-G | c.1564G>C | p.G522R | Missense | 5/28 | - | 1 |
7-11582634-C-T | c.1564G>A | p.G522R | Missense | 5/28 | - | 2 |
7-11582635-C-T | c.1563G>A | p.W521* | Nonsense | 5/28 | - | 1 |
7-11582636-C-T | c.1562G>A | p.W521* | Nonsense | 5/28 | - | 1 |
7-11582638-A-C | c.1560T>G | p.A520= | Synonymous | 5/28 | - | 1 |
7-11582638-A-G | c.1560T>C | p.A520= | Synonymous | 5/28 | - | 1 |
7-11582638-A-T | c.1560T>A | p.A520= | Synonymous | 5/28 | - | 1 |
7-11582642-G-A | c.1556C>T | p.S519L | Missense | 5/28 | - | 1 |
7-11582644-C-A | c.1554G>T | p.W518C | Missense | 5/28 | - | 6 |
7-11582644-C-G | c.1554G>C | p.W518C | Missense | 5/28 | - | 8 |
7-11582647-AG-TT | c.1550_1551delinsAA | p.P517Q | Missense | 5/28 | - | 1 |
7-11582648-G-T | c.1550C>A | p.P517H | Missense | 5/28 | - | 1 |
7-11582650-T-A | c.1548A>T | p.S516= | Synonymous | 5/28 | - | 1 |
7-11582650-T-C | c.1548A>G | p.S516= | Synonymous | 5/28 | - | 1 |
7-11582650-T-G | c.1548A>C | p.S516= | Synonymous | 5/28 | - | 1 |
7-11582653-AAC-CAT | c.1543_1545delinsATG | p.V515M | Missense | 5/28 | - | 1 |
7-11582654-A-G | c.1544T>C | p.V515A | Missense | 5/28 | - | 1 |
7-11582655-C-A | c.1543G>T | p.V515F | Missense | 5/28 | - | 1 |
7-11582656-T-C | c.1542A>G | p.E514= | Synonymous | 5/28 | - | 1 |
7-11582662-T-G | c.1536A>C | p.E512D | Missense | 5/28 | - | 1 |
7-11582666-G-A | c.1532C>T | p.T511I | Missense | 5/28 | - | 1 |
7-11582666-G-C | c.1532C>G | p.T511S | Missense | 5/28 | - | 2 |
7-11582667-T-A | c.1531A>T | p.T511S | Missense | 5/28 | - | 3 |
7-11582667-T-C | c.1531A>G | p.T511A | Missense | 5/28 | - | 1 |
7-11582669-G-T | c.1529C>A | p.P510Q | Missense | 5/28 | - | 2 |
7-11582675-G-A | c.1523C>T | p.P508L | Missense | 5/28 | - | 2 |
7-11582676-G-A | c.1522C>T | p.P508S | Missense | 5/28 | - | 1 |
7-11582681-T-C | c.1517A>G | p.H506R | Missense | 5/28 | - | 6 |
7-11582683-G-A | c.1515C>T | p.C505= | Synonymous | 5/28 | - | 1 |
7-11582687-A-G | c.1511T>C | p.L504P | Missense | 5/28 | - | 1 |
7-11582696-G-A | c.1502C>T | p.T501I | Missense | 5/28 | - | 1 |
7-11582697-T-C | c.1501A>G | p.T501A | Missense | 5/28 | - | 1 |
7-11582701-A-C | c.1497T>G | p.P499= | Synonymous | 5/28 | - | 2 |
7-11582701-A-G | c.1497T>C | p.P499= | Synonymous | 5/28 | - | 2 |
7-11582701-A-T | c.1497T>A | p.P499= | Synonymous | 5/28 | - | 2 |
7-11582703-G-A | c.1495C>T | p.P499S | Missense | 5/28 | - | 2 |
7-11582709-G-A | c.1489C>T | p.P497S | Missense | 5/28 | - | 1 |
7-11582709-G-C | c.1489C>G | p.P497A | Missense | 5/28 | - | 1 |
7-11582710-TCC-GCT | c.1486_1488delinsAGC | p.G496S | Missense | 5/28 | - | 1 |
7-11582714-G-A | c.1484C>T | p.T495I | Missense | 5/28 | - | 1 |
7-11582714-G-C | c.1484C>G | p.T495S | Missense | 5/28 | - | 1 |
7-11582715-T-A | c.1483A>T | p.T495S | Missense | 5/28 | - | 1 |
7-11582719-T-G | c.1479A>C | p.L493F | Missense | 5/28 | - | 1 |
7-11582721-A-C | c.1477T>G | p.L493V | Missense | 5/28 | - | 1 |
7-11582725-T-C | c.1473A>G | p.L491= | Synonymous | 5/28 | - | 1 |
7-11582730-C-T | c.1468G>A | p.D490N | Missense | 5/28 | - | 1 |
7-11582732-A-G | c.1466T>C | p.M489T | Missense | 5/28 | - | 2 |
7-11582733-T-C | c.1465A>G | p.M489V | Missense | 5/28 | - | 1 |
7-11582734-T-C | c.1464A>G | p.P488= | Synonymous | 5/28 | - | 1 |
7-11582736-G-T | c.1462C>A | p.P488T | Missense | 5/28 | - | 3 |
7-11582740-T-A | c.1458A>T | p.S486= | Synonymous | 5/28 | - | 1 |
7-11582740-T-C | c.1458A>G | p.S486= | Synonymous | 5/28 | - | 1 |
7-11582740-T-G | c.1458A>C | p.S486= | Synonymous | 5/28 | - | 1 |
7-11582890-G-C | c.1454-146C>G | - | IntronicSNV | - | 4/27 | 2 |
7-11583968-A-G | c.1454-1224T>C | - | IntronicSNV | - | 4/27 | 1 |
7-11600040-T-C | c.1454-17296A>G | - | IntronicSNV | - | 4/27 | 1 |
7-11602163-T-C | c.1454-19419A>G | - | IntronicSNV | - | 4/27 | 10 |
7-11602203-A-C | c.1454-19459T>G | - | IntronicSNV | - | 4/27 | 5 |
7-11602203-A-T | c.1454-19459T>A | - | IntronicSNV | - | 4/27 | 5 |
7-11602409-C-G | c.1454-19665G>C | - | IntronicSNV | - | 4/27 | 10 |
7-11602409-C-T | c.1454-19665G>A | - | IntronicSNV | - | 4/27 | 10 |
7-11602434-C-T | c.1454-19690G>A | - | IntronicSNV | - | 4/27 | 8 |
7-11613585-A-G | c.1453+16502T>C | - | IntronicSNV | - | 4/27 | 1 |
7-11615543-CT-C | c.1453+14543del | - | IntronicDeletion | - | 4/27 | 1 |
7-11617118-AT-A | c.1453+12968del | - | IntronicDeletion | - | 4/27 | 1 |
7-11617252-C-G | c.1453+12835G>C | - | IntronicSNV | - | 4/27 | 1 |
7-11617403-T-C | c.1453+12684A>G | - | IntronicSNV | - | 4/27 | 1 |
7-11617925-T-C | c.1453+12162A>G | - | IntronicSNV | - | 4/27 | 1 |
7-11619598-C-T | c.1453+10489G>A | - | IntronicSNV | - | 4/27 | 1 |
7-11621328-AT-A | c.1453+8758del | - | IntronicDeletion | - | 4/27 | 1 |
7-11625652-C-T | c.1453+4435G>A | - | IntronicSNV | - | 4/27 | 1 |
7-11626393-GT-G | c.1453+3693del | - | IntronicDeletion | - | 4/27 | 1 |
7-11626717-C-T | c.1453+3370G>A | - | IntronicSNV | - | 4/27 | 1 |
7-11629878-C-A | c.1453+209G>T | - | IntronicSNV | - | 4/27 | 1 |
7-11630029-C-T | c.1453+58G>A | - | IntronicSNV | - | 4/27 | 1 |
7-11630090-C-T | c.1450G>A | p.E484K | Missense | 4/28 | - | 1 |
7-11630092-T-G | c.1448A>C | p.K483T | Missense | 4/28 | - | 1 |
7-11630095-T-A | c.1445A>T | p.N482I | Missense | 4/28 | - | 1 |
7-11630095-T-C | c.1445A>G | p.N482S | Missense | 4/28 | - | 4 |
7-11630097-C-T | c.1443G>A | p.K481= | Synonymous | 4/28 | - | 3 |
7-11630100-G-T | c.1440C>A | p.H480Q | Missense | 4/28 | - | 1 |
7-11630102-G-A | c.1438C>T | p.H480Y | Missense | 4/28 | - | 1 |
7-11630103-G-A | c.1437C>T | p.T479= | Synonymous | 4/28 | - | 1 |
7-11630103-G-C | c.1437C>G | p.T479= | Synonymous | 4/28 | - | 1 |
7-11630103-G-T | c.1437C>A | p.T479= | Synonymous | 4/28 | - | 1 |
7-11630106-A-C | c.1434T>G | p.S478R | Missense | 4/28 | - | 4 |
7-11630106-A-T | c.1434T>A | p.S478R | Missense | 4/28 | - | 5 |
7-11630108-T-G | c.1432A>C | p.S478R | Missense | 4/28 | - | 4 |
7-11630107-C-T | c.1433G>A | p.S478N | Missense | 4/28 | - | 1 |
7-11630112-T-A | c.1428A>T | p.Q476H | Missense | 4/28 | - | 1 |
7-11630113-T-G | c.1427A>C | p.Q476P | Missense | 4/28 | - | 1 |
7-11630116-G-A | c.1424C>T | p.S475L | Missense | 4/28 | - | 1 |
7-11630118-G-A | c.1422C>T | p.L474= | Synonymous | 4/28 | - | 2 |
7-11630124-G-A | c.1416C>T | p.N472= | Synonymous | 4/28 | - | 1 |
7-11630127-T-C | c.1413A>G | p.E471= | Synonymous | 4/28 | - | 1 |
7-11630124-GT-G | c.1415del | p.N472Tfs*6 | Frameshift | 4/28 | - | 1 |
7-11630129-C-T | c.1411G>A | p.E471K | Missense | 4/28 | - | 11 |
7-11630130-G-C | c.1410C>G | p.N470K | Missense | 4/28 | - | 1 |
7-11630130-G-T | c.1410C>A | p.N470K | Missense | 4/28 | - | 1 |
7-11630141-C-T | c.1399G>A | p.V467M | Missense | 4/28 | - | 1 |
7-11630142-G-A | c.1398C>T | p.C466= | Synonymous | 4/28 | - | 3 |
7-11630143-C-T | c.1397G>A | p.C466Y | Missense | 4/28 | - | 3 |
7-11630150-C-T | c.1390G>A | p.V464M | Missense | 4/28 | - | 2 |
7-11630153-C-T | c.1387G>A | p.E463K | Missense | 4/28 | - | 1 |
7-11630155-C-A | c.1385G>T | p.R462L | Missense | 4/28 | - | 6 |
7-11630155-C-T | c.1385G>A | p.R462Q | Missense | 4/28 | - | 3 |
7-11630154-T-A | c.1386A>T | p.R462= | Synonymous | 4/28 | - | 1 |
7-11630154-T-C | c.1386A>G | p.R462= | Synonymous | 4/28 | - | 1 |
7-11630154-T-G | c.1386A>C | p.R462= | Synonymous | 4/28 | - | 1 |
7-11630156-G-T | c.1384C>A | p.R462= | Synonymous | 4/28 | - | 1 |
7-11630158-G-C | c.1382C>G | p.T461S | Missense | 4/28 | - | 1 |
7-11630159-T-A | c.1381A>T | p.T461S | Missense | 4/28 | - | 1 |
7-11630160-C-A | c.1380G>T | p.Q460H | Missense | 4/28 | - | 1 |
7-11630160-C-G | c.1380G>C | p.Q460H | Missense | 4/28 | - | 1 |
7-11630162-G-A | c.1378C>T | p.Q460* | Nonsense | 4/28 | - | 2 |
7-11630163-G-T | c.1377C>A | p.I459= | Synonymous | 4/28 | - | 1 |
7-11630167-C-T | c.1373G>A | p.G458D | Missense | 4/28 | - | 1 |
7-11630168-C-T | c.1372G>A | p.G458S | Missense | 4/28 | - | 1 |
7-11630169-C-A | c.1371G>T | p.G457= | Synonymous | 4/28 | - | 1 |
7-11630169-C-G | c.1371G>C | p.G457= | Synonymous | 4/28 | - | 1 |
7-11630169-C-T | c.1371G>A | p.G457= | Synonymous | 4/28 | - | 2 |
7-11630170-C-T | c.1370G>A | p.G457E | Missense | 4/28 | - | 1 |
7-11630171-C-T | c.1369G>A | p.G457R | Missense | 4/28 | - | 1 |
7-11630174-C-T | c.1366G>A | p.G456R | Missense | 4/28 | - | 2 |
7-11630175-A-T | c.1365T>A | p.C455* | Nonsense | 4/28 | - | 1 |
7-11630177-A-G | c.1363T>C | p.C455R | Missense | 4/28 | - | 1 |
7-11630184-C-A | c.1356G>T | p.T452= | Synonymous | 4/28 | - | 1 |
7-11630184-C-G | c.1356G>C | p.T452= | Synonymous | 4/28 | - | 2 |
7-11630184-C-T | c.1356G>A | p.T452= | Synonymous | 4/28 | - | 2 |
7-11630185-G-A | c.1355C>T | p.T452M | Missense | 4/28 | - | 15 |
7-11630187-C-A | c.1353G>T | p.Q451H | Missense | 4/28 | - | 1 |
7-11630187-C-G | c.1353G>C | p.Q451H | Missense | 4/28 | - | 1 |
7-11630187-C-T | c.1353G>A | p.Q451= | Synonymous | 4/28 | - | 1 |
7-11630193-GCC-CCA | c.1345_1347delinsTGG | p.G449W | Missense | 4/28 | - | 1 |
7-11630193-GC-CT | c.1346_1347delinsAG | p.G449E | Missense | 4/28 | - | 1 |
7-11630195-C-T | c.1345G>A | p.G449S | Missense | 4/28 | - | 1 |
7-11630196-G-A | c.1344C>T | p.R448= | Synonymous | 4/28 | - | 2 |
7-11630196-G-C | c.1344C>G | p.R448= | Synonymous | 4/28 | - | 2 |
7-11630196-G-T | c.1344C>A | p.R448= | Synonymous | 4/28 | - | 2 |
7-11630197-C-A | c.1343G>T | p.R448L | Missense | 4/28 | - | 1 |
7-11630197-C-T | c.1343G>A | p.R448H | Missense | 4/28 | - | 4 |
7-11630198-G-A | c.1342C>T | p.R448C | Missense | 4/28 | - | 3 |
7-11630198-G-T | c.1342C>A | p.R448S | Missense | 4/28 | - | 2 |
7-11630200-CT-TA | c.1339_1340delinsTA | p.R447* | Nonsense | 4/28 | - | 1 |
7-11630201-T-A | c.1339A>T | p.R447W | Missense | 4/28 | - | 2 |
7-11630205-G-C | c.1335C>G | p.D445E | Missense | 4/28 | - | 1 |
7-11630205-G-T | c.1335C>A | p.D445E | Missense | 4/28 | - | 1 |
7-11630207-C-T | c.1333G>A | p.D445N | Missense | 4/28 | - | 4 |
7-11630208-C-A | c.1332G>T | p.Q444H | Missense | 4/28 | - | 1 |
7-11630208-C-G | c.1332G>C | p.Q444H | Missense | 4/28 | - | 1 |
7-11630211-C-A | c.1329G>T | p.Q443H | Missense | 4/28 | - | 2 |
7-11630211-C-G | c.1329G>C | p.Q443H | Missense | 4/28 | - | 2 |
7-11630215-C-G | c.1325G>C | p.S442T | Missense | 4/28 | - | 1 |
7-11630225-G-A | c.1315C>T | p.P439S | Missense | 4/28 | - | 1 |
7-11630229-C-T | c.1311G>A | p.V437= | Synonymous | 4/28 | - | 3 |
7-11630230-A-T | c.1310T>A | p.V437E | Missense | 4/28 | - | 1 |
7-11630232-AC-TT | c.1307_1308delinsAA | p.R436Q | Missense | 4/28 | - | 1 |
7-11630233-C-T | c.1307G>A | p.R436H | Missense | 4/28 | - | 1 |
7-11630234-G-T | c.1306C>A | p.R436S | Missense | 4/28 | - | 1 |
7-11630235-G-A | c.1305C>T | p.C435= | Synonymous | 4/28 | - | 2 |
7-11630235-G-T | c.1305C>A | p.C435* | Nonsense | 4/28 | - | 1 |
7-11630239-T-C | c.1301A>G | p.E434G | Missense | 4/28 | - | 1 |
7-11630240-C-G | c.1300G>C | p.E434Q | Missense | 4/28 | - | 2 |
7-11630241-A-C | c.1299T>G | p.T433= | Synonymous | 4/28 | - | 1 |
7-11630241-A-G | c.1299T>C | p.T433= | Synonymous | 4/28 | - | 1 |
7-11630241-A-T | c.1299T>A | p.T433= | Synonymous | 4/28 | - | 1 |
7-11630245-C-T | c.1295G>A | p.W432* | Nonsense | 4/28 | - | 1 |
7-11630249-C-T | c.1291G>A | p.E431K | Missense | 4/28 | - | 1 |
7-11630252-T-A | c.1288A>T | p.T430S | Missense | 4/28 | - | 1 |
7-11630253-A-T | c.1287T>A | p.T429= | Synonymous | 4/28 | - | 1 |
7-11630255-T-C | c.1285A>G | p.T429A | Missense | 4/28 | - | 3 |
7-11630256-T-C | c.1284A>G | p.R428= | Synonymous | 4/28 | - | 1 |
7-11630258-T-G | c.1282A>C | p.R428= | Synonymous | 4/28 | - | 1 |
7-11630257-C-A | c.1283G>T | p.R428I | Missense | 4/28 | - | 1 |
7-11630258-T-C | c.1282A>G | p.R428G | Missense | 4/28 | - | 2 |
7-11630259-C-T | c.1281G>A | p.W427* | Nonsense | 4/28 | - | 1 |
7-11630260-C-T | c.1280G>A | p.W427* | Nonsense | 4/28 | - | 1 |
7-11630263-C-A | c.1277G>T | p.G426V | Missense | 4/28 | - | 1 |
7-11630268-C-A | c.1272G>T | p.T424= | Synonymous | 4/28 | - | 2 |
7-11630268-C-G | c.1272G>C | p.T424= | Synonymous | 4/28 | - | 2 |
7-11630268-C-T | c.1272G>A | p.T424= | Synonymous | 4/28 | - | 2 |
7-11630298-C-A | c.1272-30G>T | - | IntronicSNV | - | 3/27 | 4 |
7-11631891-T-A | c.1271+990A>T | - | IntronicSNV | - | 3/27 | 1 |
7-11631891-T-C | c.1271+990A>G | - | IntronicSNV | - | 3/27 | 1 |
7-11631890-AT-A | c.1271+990del | - | IntronicDeletion | - | 3/27 | 1 |
7-11632486-CT-C | c.1271+394del | - | IntronicDeletion | - | 3/27 | 1 |
7-11632761-G-A | c.1271+120C>T | - | IntronicSNV | - | 3/27 | 1 |
7-11632761-G-C | c.1271+120C>G | - | IntronicSNV | - | 3/27 | 1 |
7-11632773-AT-A | c.1271+107del | - | IntronicDeletion | - | 3/27 | 1 |
7-11632862-C-A | c.1271+19G>T | - | IntronicSNV | - | 3/27 | 1 |
7-11632880-C-A | c.1271+1G>T | - | IntronicSNV | - | 3/27 | 1 |
7-11632881-G-A | c.1271C>T | p.T424M | Missense | 3/28 | - | 4 |
7-11632882-T-A | c.1270A>T | p.T424S | Missense | 3/28 | - | 1 |
7-11632884-G-A | c.1268C>T | p.A423V | Missense | 3/28 | - | 1 |
7-11632885-C-T | c.1267G>A | p.A423T | Missense | 3/28 | - | 2 |
7-11632890-G-A | c.1262C>T | p.P421L | Missense | 3/28 | - | 1 |
7-11632891-G-A | c.1261C>T | p.P421S | Missense | 3/28 | - | 2 |
7-11632896-A-G | c.1256T>C | p.V419A | Missense | 3/28 | - | 2 |
7-11632897-C-T | c.1255G>A | p.V419I | Missense | 3/28 | - | 2 |
7-11632900-C-T | c.1252G>A | p.G418R | Missense | 3/28 | - | 1 |
7-11632904-T-A | c.1248A>T | p.G416= | Synonymous | 3/28 | - | 1 |
7-11632904-T-C | c.1248A>G | p.G416= | Synonymous | 3/28 | - | 2 |
7-11632904-T-G | c.1248A>C | p.G416= | Synonymous | 3/28 | - | 1 |
7-11632906-C-G | c.1246G>C | p.G416R | Missense | 3/28 | - | 1 |
7-11632906-C-T | c.1246G>A | p.G416R | Missense | 3/28 | - | 3 |
7-11632909-G-A | c.1243C>T | p.Q415* | Nonsense | 3/28 | - | 2 |
7-11632919-G-A | c.1233C>T | p.P411= | Synonymous | 3/28 | - | 2 |
7-11632919-G-C | c.1233C>G | p.P411= | Synonymous | 3/28 | - | 2 |
7-11632919-G-T | c.1233C>A | p.P411= | Synonymous | 3/28 | - | 2 |
7-11632920-G-A | c.1232C>T | p.P411L | Missense | 3/28 | - | 1 |
7-11632924-C-A | c.1228G>T | p.E410* | Nonsense | 3/28 | - | 4 |
7-11632930-C-T | c.1222G>A | p.E408K | Missense | 3/28 | - | 1 |
7-11632935-A-C | c.1217T>G | p.F406C | Missense | 3/28 | - | 1 |
7-11632936-A-C | c.1216T>G | p.F406V | Missense | 3/28 | - | 1 |
7-11632944-C-T | c.1208G>A | p.C403Y | Missense | 3/28 | - | 1 |
7-11632946-C-A | c.1206G>T | p.E402D | Missense | 3/28 | - | 1 |
7-11632946-C-G | c.1206G>C | p.E402D | Missense | 3/28 | - | 1 |
7-11632948-C-G | c.1204G>C | p.E402Q | Missense | 3/28 | - | 1 |
7-11632949-C-A | c.1203G>T | p.K401N | Missense | 3/28 | - | 1 |
7-11632954-C-T | c.1198G>A | p.E400K | Missense | 3/28 | - | 1 |
7-11632957-T-A | c.1195A>T | p.S399C | Missense | 3/28 | - | 1 |
7-11632960-C-A | c.1192G>T | p.G398C | Missense | 3/28 | - | 1 |
7-11632962-A-G | c.1190T>C | p.I397T | Missense | 3/28 | - | 3 |
7-11632966-G-A | c.1186C>T | p.P396S | Missense | 3/28 | - | 1 |
7-11632968-A-T | c.1184T>A | p.F395Y | Missense | 3/28 | - | 2 |
7-11632972-G-A | c.1180C>T | p.Q394* | Nonsense | 3/28 | - | 1 |
7-11632972-G-T | c.1180C>A | p.Q394K | Missense | 3/28 | - | 1 |
7-11632973-C-A | c.1179G>T | p.R393S | Missense | 3/28 | - | 1 |
7-11632975-T-A | c.1177A>T | p.R393W | Missense | 3/28 | - | 2 |
7-11632979-G-A | c.1173C>T | p.T391= | Synonymous | 3/28 | - | 3 |
7-11632982-TCG-ACA | c.1168_1170delinsTGT | p.R390C | Missense | 3/28 | - | 1 |
7-11632983-C-T | c.1169G>A | p.R390Q | Missense | 3/28 | - | 11 |
7-11632984-G-A | c.1168C>T | p.R390* | Nonsense | 3/28 | - | 1 |
7-11632987-T-C | c.1165A>G | p.T389A | Missense | 3/28 | - | 1 |
7-11632988-C-A | c.1164G>T | p.R388S | Missense | 3/28 | - | 3 |
7-11632988-C-G | c.1164G>C | p.R388S | Missense | 3/28 | - | 2 |
7-11632989-C-G | c.1163G>C | p.R388T | Missense | 3/28 | - | 1 |
7-11632995-C-T | c.1157G>A | p.R386H | Missense | 3/28 | - | 3 |
7-11632996-G-A | c.1156C>T | p.R386C | Missense | 3/28 | - | 2 |
7-11633001-C-A | c.1151G>T | p.G384V | Missense | 3/28 | - | 1 |
7-11633002-C-A | c.1150G>T | p.G384C | Missense | 3/28 | - | 1 |
7-11633004-G-T | c.1148C>A | p.A383E | Missense | 3/28 | - | 1 |
7-11633005-C-G | c.1147G>C | p.A383P | Missense | 3/28 | - | 1 |
7-11633007-G-A | c.1145C>T | p.P382L | Missense | 3/28 | - | 2 |
7-11633008-G-T | c.1144C>A | p.P382T | Missense | 3/28 | - | 1 |
7-11633009-G-A | c.1143C>T | p.S381= | Synonymous | 3/28 | - | 2 |
7-11633009-G-C | c.1143C>G | p.S381= | Synonymous | 3/28 | - | 1 |
7-11633009-G-T | c.1143C>A | p.S381= | Synonymous | 3/28 | - | 1 |
7-11633010-G-C | c.1142C>G | p.S381C | Missense | 3/28 | - | 1 |
7-11633010-G-T | c.1142C>A | p.S381Y | Missense | 3/28 | - | 1 |
7-11633012-C-T | c.1140G>A | p.V380= | Synonymous | 3/28 | - | 1 |
7-11633013-A-G | c.1139T>C | p.V380A | Missense | 3/28 | - | 2 |
7-11633022-T-C | c.1130A>G | p.H377R | Missense | 3/28 | - | 1 |
7-11633032-T-C | c.1120A>G | p.K374E | Missense | 3/28 | - | 1 |
7-11633034-G-C | c.1118C>G | p.S373* | Nonsense | 3/28 | - | 2 |
7-11633034-G-T | c.1118C>A | p.S373* | Nonsense | 3/28 | - | 3 |
7-11633039-G-T | c.1113C>A | p.P371= | Synonymous | 3/28 | - | 1 |
7-11633041-G-A | c.1111C>T | p.P371S | Missense | 3/28 | - | 2 |
7-11633043-C-T | c.1109G>A | p.S370N | Missense | 3/28 | - | 1 |
7-11633043-CT-TA | c.1108_1109delinsTA | p.S370Y | Missense | 3/28 | - | 1 |
7-11633045-C-T | c.1107G>A | p.W369* | Nonsense | 3/28 | - | 1 |
7-11633046-C-T | c.1106G>A | p.W369* | Nonsense | 3/28 | - | 1 |
7-11633050-C-G | c.1102G>C | p.E368Q | Missense | 3/28 | - | 2 |
7-11633050-C-T | c.1102G>A | p.E368K | Missense | 3/28 | - | 1 |
7-11633050-C-CT | c.1101dup | p.E368Rfs*11 | Frameshift | 3/28 | - | 1 |
7-11633052-G-C | c.1100C>G | p.S367* | Nonsense | 3/28 | - | 1 |
7-11633052-G-T | c.1100C>A | p.S367* | Nonsense | 3/28 | - | 1 |
7-11633055-C-T | c.1097G>A | p.W366* | Nonsense | 3/28 | - | 2 |
7-11633057-C-T | c.1095G>A | p.E365= | Synonymous | 3/28 | - | 1 |
7-11633059-C-T | c.1093G>A | p.E365K | Missense | 3/28 | - | 2 |
7-11633060-G-A | c.1092C>T | p.S364= | Synonymous | 3/28 | - | 2 |
7-11633060-G-C | c.1092C>G | p.S364= | Synonymous | 3/28 | - | 5 |
7-11633060-G-T | c.1092C>A | p.S364= | Synonymous | 3/28 | - | 2 |
7-11633061-G-A | c.1091C>T | p.S364F | Missense | 3/28 | - | 4 |
7-11633064-A-C | c.1088T>G | p.V363G | Missense | 3/28 | - | 1 |
7-11633066-C-A | c.1086G>T | p.Q362H | Missense | 3/28 | - | 1 |
7-11633066-C-T | c.1086G>A | p.Q362= | Synonymous | 3/28 | - | 1 |
7-11633067-CT-C | c.1085del | p.Q362Rfs*26 | Frameshift | 3/28 | - | 1 |
7-11633070-C-A | c.1082G>T | p.C361F | Missense | 3/28 | - | 1 |
7-11633070-C-T | c.1082G>A | p.C361Y | Missense | 3/28 | - | 2 |
7-11633072-C-A | c.1080G>T | p.E360D | Missense | 3/28 | - | 1 |
7-11633072-C-G | c.1080G>C | p.E360D | Missense | 3/28 | - | 3 |
7-11633076-T-C | c.1076A>G | p.K359R | Missense | 3/28 | - | 1 |
7-11633077-T-C | c.1075A>G | p.K359E | Missense | 3/28 | - | 1 |
7-11633079-G-A | c.1073C>T | p.T358I | Missense | 3/28 | - | 1 |
7-11633089-A-C | c.1063T>G | p.C355G | Missense | 3/28 | - | 1 |
7-11633094-T-C | c.1058A>G | p.Q353R | Missense | 3/28 | - | 1 |
7-11633095-G-A | c.1057C>T | p.Q353* | Nonsense | 3/28 | - | 1 |
7-11633101-T-C | c.1051A>G | p.T351A | Missense | 3/28 | - | 2 |
7-11633102-C-A | c.1050G>T | p.M350I | Missense | 3/28 | - | 2 |
7-11633104-T-A | c.1048A>T | p.M350L | Missense | 3/28 | - | 1 |
7-11633104-T-C | c.1048A>G | p.M350V | Missense | 3/28 | - | 1 |
7-11633104-T-G | c.1048A>C | p.M350L | Missense | 3/28 | - | 1 |
7-11633105-TG-AT | c.1046_1047delinsAT | p.P349H | Missense | 3/28 | - | 1 |
7-11633110-G-T | c.1042C>A | p.L348I | Missense | 3/28 | - | 1 |
7-11633114-C-A | c.1038G>T | p.E346D | Missense | 3/28 | - | 1 |
7-11633114-C-G | c.1038G>C | p.E346D | Missense | 3/28 | - | 1 |
7-11633116-C-T | c.1036G>A | p.E346K | Missense | 3/28 | - | 6 |
7-11633117-T-C | c.1035A>G | p.Q345= | Synonymous | 3/28 | - | 1 |
7-11633118-T-C | c.1034A>G | p.Q345R | Missense | 3/28 | - | 1 |
7-11633119-G-T | c.1033C>A | p.Q345K | Missense | 3/28 | - | 1 |
7-11633120-C-T | c.1032G>A | p.Q344= | Synonymous | 3/28 | - | 2 |
7-11633128-A-G | c.1024T>C | p.F342L | Missense | 3/28 | - | 1 |
7-11633193-G-A | c.1023-64C>T | - | IntronicSNV | - | 2/27 | 8 |
7-11633193-G-C | c.1023-64C>G | - | IntronicSNV | - | 2/27 | 8 |
7-11633193-G-T | c.1023-64C>A | - | IntronicSNV | - | 2/27 | 8 |
7-11637091-C-G | c.1023-3962G>C | - | IntronicSNV | - | 2/27 | 1 |
7-11637091-C-T | c.1023-3962G>A | - | IntronicSNV | - | 2/27 | 1 |
7-11637661-C-T | c.1023-4532G>A | - | IntronicSNV | - | 2/27 | 1 |
7-11643656-A-T | c.1023-10527T>A | - | IntronicSNV | - | 2/27 | 1 |
7-11648066-C-A | c.1023-14937G>T | - | IntronicSNV | - | 2/27 | 1 |
7-11648066-C-T | c.1023-14937G>A | - | IntronicSNV | - | 2/27 | 1 |
7-11648939-A-C | c.1023-15810T>G | - | IntronicSNV | - | 2/27 | 2 |
7-11655863-C-T | c.1022+19894G>A | - | IntronicSNV | - | 2/27 | 1 |
7-11664684-A-T | c.1022+11073T>A | - | IntronicSNV | - | 2/27 | 1 |
7-11665049-A-G | c.1022+10708T>C | - | IntronicSNV | - | 2/27 | 1 |
7-11665277-C-T | c.1022+10480G>A | - | IntronicSNV | - | 2/27 | 1 |
7-11668299-G-T | c.1022+7458C>A | - | IntronicSNV | - | 2/27 | 1 |
7-11669523-T-G | c.1022+6234A>C | - | IntronicSNV | - | 2/27 | 1 |
7-11670413-C-T | c.1022+5344G>A | - | IntronicSNV | - | 2/27 | 1 |
7-11675579-A-G | c.1022+178T>C | - | IntronicSNV | - | 2/27 | 1 |
7-11675614-C-A | c.1022+143G>T | - | IntronicSNV | - | 2/27 | 1 |
7-11675662-C-T | c.1022+95G>A | - | IntronicSNV | - | 2/27 | 1 |
7-11675706-C-G | c.1022+51G>C | - | IntronicSNV | - | 2/27 | 1 |
7-11675757-C-T | c.1022G>A | p.S341N | Missense | 2/28 | - | 1 |
7-11675764-C-A | c.1015G>T | p.D339Y | Missense | 2/28 | - | 1 |
7-11675766-G-A | c.1013C>T | p.A338V | Missense | 2/28 | - | 1 |
7-11675767-C-A | c.1012G>T | p.A338S | Missense | 2/28 | - | 1 |
7-11675774-C-T | c.1005G>A | p.G335= | Synonymous | 2/28 | - | 1 |
7-11675775-C-T | c.1004G>A | p.G335E | Missense | 2/28 | - | 4 |
7-11675776-C-A | c.1003G>T | p.G335W | Missense | 2/28 | - | 2 |
7-11675776-C-G | c.1003G>C | p.G335R | Missense | 2/28 | - | 1 |
7-11675776-C-T | c.1003G>A | p.G335R | Missense | 2/28 | - | 3 |
7-11675777-C-A | c.1002G>T | p.T334= | Synonymous | 2/28 | - | 2 |
7-11675777-C-G | c.1002G>C | p.T334= | Synonymous | 2/28 | - | 1 |
7-11675777-C-T | c.1002G>A | p.T334= | Synonymous | 2/28 | - | 1 |
7-11675779-T-A | c.1000A>T | p.T334S | Missense | 2/28 | - | 1 |
7-11675780-C-A | c.999G>T | p.K333N | Missense | 2/28 | - | 1 |
7-11675780-C-G | c.999G>C | p.K333N | Missense | 2/28 | - | 1 |
7-11675780-C-T | c.999G>A | p.K333= | Synonymous | 2/28 | - | 1 |
7-11675782-T-C | c.997A>G | p.K333E | Missense | 2/28 | - | 3 |
7-11675787-A-T | c.992T>A | p.I331N | Missense | 2/28 | - | 1 |
7-11675795-A-G | c.984T>C | p.V328= | Synonymous | 2/28 | - | 1 |
7-11675798-C-A | c.981G>T | p.E327D | Missense | 2/28 | - | 2 |
7-11675798-C-G | c.981G>C | p.E327D | Missense | 2/28 | - | 2 |
7-11675801-T-A | c.978A>T | p.R326S | Missense | 2/28 | - | 1 |
7-11675801-TCT-ACA | c.976_978delinsTGT | p.R326C | Missense | 2/28 | - | 1 |
7-11675801-T-G | c.978A>C | p.R326S | Missense | 2/28 | - | 1 |
7-11675804-G-A | c.975C>T | p.T325= | Synonymous | 2/28 | - | 1 |
7-11675809-G-A | c.970C>T | p.Q324* | Nonsense | 2/28 | - | 1 |
7-11675809-G-T | c.970C>A | p.Q324K | Missense | 2/28 | - | 1 |
7-11675814-C-A | c.965G>T | p.G322V | Missense | 2/28 | - | 1 |
7-11675814-C-G | c.965G>C | p.G322A | Missense | 2/28 | - | 2 |
7-11675815-C-A | c.964G>T | p.G322* | Nonsense | 2/28 | - | 2 |
7-11675819-C-T | c.960G>A | p.Q320= | Synonymous | 2/28 | - | 3 |
7-11675820-T-C | c.959A>G | p.Q320R | Missense | 2/28 | - | 1 |
7-11675821-G-A | c.958C>T | p.Q320* | Nonsense | 2/28 | - | 5 |
7-11675822-G-A | c.957C>T | p.I319= | Synonymous | 2/28 | - | 1 |
7-11675822-G-T | c.957C>A | p.I319= | Synonymous | 2/28 | - | 1 |
7-11675825-G-C | c.954C>G | p.D318E | Missense | 2/28 | - | 1 |
7-11675825-G-T | c.954C>A | p.D318E | Missense | 2/28 | - | 3 |
7-11675826-T-C | c.953A>G | p.D318G | Missense | 2/28 | - | 1 |
7-11675827-C-A | c.952G>T | p.D318Y | Missense | 2/28 | - | 1 |
7-11675827-C-T | c.952G>A | p.D318N | Missense | 2/28 | - | 1 |
7-11675828-C-A | c.951G>T | p.W317C | Missense | 2/28 | - | 1 |
7-11675828-C-G | c.951G>C | p.W317C | Missense | 2/28 | - | 1 |
7-11675831-A-AT | c.947dup | p.Y316* | Nonsense | 2/28 | - | 1 |
7-11675832-T-A | c.947A>T | p.Y316F | Missense | 2/28 | - | 2 |
7-11675833-A-G | c.946T>C | p.Y316H | Missense | 2/28 | - | 1 |
7-11675842-C-T | c.937G>A | p.E313K | Missense | 2/28 | - | 2 |
7-11675848-T-A | c.931A>T | p.R311* | Nonsense | 2/28 | - | 1 |
7-11675849-G-A | c.930C>T | p.N310= | Synonymous | 2/28 | - | 1 |
7-11675852-C-A | c.927G>T | p.Q309H | Missense | 2/28 | - | 1 |
7-11675852-C-G | c.927G>C | p.Q309H | Missense | 2/28 | - | 1 |
7-11675852-C-T | c.927G>A | p.Q309= | Synonymous | 2/28 | - | 1 |
7-11675855-C-G | c.924G>C | p.R308S | Missense | 2/28 | - | 1 |
7-11675855-C-T | c.924G>A | p.R308= | Synonymous | 2/28 | - | 9 |
7-11675857-T-G | c.922A>C | p.R308= | Synonymous | 2/28 | - | 4 |
7-11675856-C-T | c.923G>A | p.R308K | Missense | 2/28 | - | 4 |
7-11675859-T-C | c.920A>G | p.N307S | Missense | 2/28 | - | 2 |
7-11675860-T-C | c.919A>G | p.N307D | Missense | 2/28 | - | 1 |
7-11675862-C-T | c.917G>A | p.R306K | Missense | 2/28 | - | 1 |
7-11675863-T-G | c.916A>C | p.R306= | Synonymous | 2/28 | - | 1 |
7-11675865-T-C | c.914A>G | p.N305S | Missense | 2/28 | - | 1 |
7-11675875-T-A | c.904A>T | p.K302* | Nonsense | 2/28 | - | 3 |
7-11675876-C-T | c.903G>A | p.K301= | Synonymous | 2/28 | - | 1 |
7-11675880-A-C | c.899T>G | p.I300S | Missense | 2/28 | - | 1 |
7-11675882-A-C | c.897T>G | p.L299= | Synonymous | 2/28 | - | 1 |
7-11675882-A-G | c.897T>C | p.L299= | Synonymous | 2/28 | - | 1 |
7-11675882-A-T | c.897T>A | p.L299= | Synonymous | 2/28 | - | 1 |
7-11675884-G-A | c.895C>T | p.L299F | Missense | 2/28 | - | 1 |
7-11675887-C-A | c.892G>T | p.E298* | Nonsense | 2/28 | - | 2 |
7-11675887-C-G | c.892G>C | p.E298Q | Missense | 2/28 | - | 1 |
7-11675887-C-T | c.892G>A | p.E298K | Missense | 2/28 | - | 8 |
7-11675888-G-A | c.891C>T | p.R297= | Synonymous | 2/28 | - | 7 |
7-11675888-G-C | c.891C>G | p.R297= | Synonymous | 2/28 | - | 2 |
7-11675888-G-T | c.891C>A | p.R297= | Synonymous | 2/28 | - | 2 |
7-11675889-C-T | c.890G>A | p.R297H | Missense | 2/28 | - | 9 |
7-11675890-G-A | c.889C>T | p.R297C | Missense | 2/28 | - | 4 |
7-11675890-G-T | c.889C>A | p.R297S | Missense | 2/28 | - | 1 |
7-11675891-G-A | c.888C>T | p.A296= | Synonymous | 2/28 | - | 1 |
7-11675891-G-C | c.888C>G | p.A296= | Synonymous | 2/28 | - | 1 |
7-11675891-G-T | c.888C>A | p.A296= | Synonymous | 2/28 | - | 1 |
7-11675902-C-T | c.877G>A | p.D293N | Missense | 2/28 | - | 7 |
7-11675903-C-T | c.876G>A | p.K292= | Synonymous | 2/28 | - | 1 |
7-11675908-C-T | c.871G>A | p.V291I | Missense | 2/28 | - | 2 |
7-11675910-C-A | c.869G>T | p.G290V | Missense | 2/28 | - | 1 |
7-11675914-T-C | c.865A>G | p.K289E | Missense | 2/28 | - | 1 |
7-11675915-G-A | c.864C>T | p.S288= | Synonymous | 2/28 | - | 1 |
7-11675916-C-T | c.863G>A | p.S288N | Missense | 2/28 | - | 1 |
7-11675919-C-A | c.860G>T | p.R287L | Missense | 2/28 | - | 1 |
7-11675919-C-G | c.860G>C | p.R287P | Missense | 2/28 | - | 1 |
7-11675919-C-T | c.860G>A | p.R287H | Missense | 2/28 | - | 5 |
7-11675920-G-A | c.859C>T | p.R287C | Missense | 2/28 | - | 1 |
7-11675923-C-T | c.856G>A | p.D286N | Missense | 2/28 | - | 1 |
7-11675924-C-A | c.855G>T | p.K285N | Missense | 2/28 | - | 1 |
7-11675924-C-T | c.855G>A | p.K285= | Synonymous | 2/28 | - | 3 |
7-11675925-T-A | c.854A>T | p.K285M | Missense | 2/28 | - | 1 |
7-11675928-T-C | c.851A>G | p.E284G | Missense | 2/28 | - | 1 |
7-11675929-C-A | c.850G>T | p.E284* | Nonsense | 2/28 | - | 1 |
7-11675930-CCG-ACA | c.847_849delinsTGT | p.R283C | Missense | 2/28 | - | 1 |
7-11675930-CCG-GCT | c.847_849delinsAGC | p.R283S | Missense | 2/28 | - | 1 |
7-11675930-C-T | c.849G>A | p.R283= | Synonymous | 2/28 | - | 3 |
7-11675931-C-T | c.848G>A | p.R283Q | Missense | 2/28 | - | 1 |
7-11675932-G-A | c.847C>T | p.R283W | Missense | 2/28 | - | 2 |
7-11675933-T-A | c.846A>T | p.E282D | Missense | 2/28 | - | 1 |
7-11675933-T-G | c.846A>C | p.E282D | Missense | 2/28 | - | 1 |
7-11675935-C-A | c.844G>T | p.E282* | Nonsense | 2/28 | - | 1 |
7-11675935-C-T | c.844G>A | p.E282K | Missense | 2/28 | - | 4 |
7-11675938-T-C | c.841A>G | p.K281E | Missense | 2/28 | - | 1 |
7-11675946-C-G | c.833G>C | p.G278A | Missense | 2/28 | - | 6 |
7-11675947-C-A | c.832G>T | p.G278W | Missense | 2/28 | - | 1 |
7-11675947-C-G | c.832G>C | p.G278R | Missense | 2/28 | - | 1 |
7-11675947-C-T | c.832G>A | p.G278R | Missense | 2/28 | - | 6 |
7-11675948-G-A | c.831C>T | p.R277= | Synonymous | 2/28 | - | 3 |
7-11675948-G-C | c.831C>G | p.R277= | Synonymous | 2/28 | - | 1 |
7-11675948-G-T | c.831C>A | p.R277= | Synonymous | 2/28 | - | 2 |
7-11675949-C-T | c.830G>A | p.R277H | Missense | 2/28 | - | 2 |
7-11675950-G-A | c.829C>T | p.R277C | Missense | 2/28 | - | 7 |
7-11675951-TCT-CCA | c.826_828delinsTGG | p.R276W | Missense | 2/28 | - | 1 |
7-11675952-C-T | c.827G>A | p.R276K | Missense | 2/28 | - | 1 |
7-11675953-T-A | c.826A>T | p.R276* | Nonsense | 2/28 | - | 3 |
7-11675954-CCT-ATG | c.823_825delinsCAT | p.R275H | Missense | 2/28 | - | 1 |
7-11675954-C-T | c.825G>A | p.R275= | Synonymous | 2/28 | - | 2 |
7-11675956-T-G | c.823A>C | p.R275= | Synonymous | 2/28 | - | 1 |
7-11675955-C-A | c.824G>T | p.R275M | Missense | 2/28 | - | 1 |
7-11675955-C-G | c.824G>C | p.R275T | Missense | 2/28 | - | 1 |
7-11675955-C-T | c.824G>A | p.R275K | Missense | 2/28 | - | 3 |
7-11675958-G-A | c.821C>T | p.A274V | Missense | 2/28 | - | 1 |
7-11675962-G-A | c.817C>T | p.Q273* | Nonsense | 2/28 | - | 2 |
7-11675963-TCT-ACA | c.814_816delinsTGT | p.R272C | Missense | 2/28 | - | 1 |
7-11675964-C-A | c.815G>T | p.R272I | Missense | 2/28 | - | 1 |
7-11675964-CT-TG | c.814_815delinsCA | p.R272Q | Missense | 2/28 | - | 1 |
7-11675970-T-C | c.809A>G | p.Q270R | Missense | 2/28 | - | 1 |
7-11675973-C-A | c.806G>T | p.R269L | Missense | 2/28 | - | 3 |
7-11675973-C-T | c.806G>A | p.R269Q | Missense | 2/28 | - | 2 |
7-11675974-G-A | c.805C>T | p.R269* | Nonsense | 2/28 | - | 1 |
7-11675976-G-A | c.803C>T | p.S268F | Missense | 2/28 | - | 2 |
7-11675981-G-T | c.798C>A | p.P266= | Synonymous | 2/28 | - | 1 |
7-11675988-G-A | c.791C>T | p.S264L | Missense | 2/28 | - | 1 |
7-11675990-G-T | c.789C>A | p.C263* | Nonsense | 2/28 | - | 1 |
7-11675993-G-A | c.786C>T | p.T262= | Synonymous | 2/28 | - | 1 |
7-11675994-G-T | c.785C>A | p.T262N | Missense | 2/28 | - | 3 |
7-11675995-T-C | c.784A>G | p.T262A | Missense | 2/28 | - | 1 |
7-11675996-G-A | c.783C>T | p.S261= | Synonymous | 2/28 | - | 1 |
7-11675996-G-C | c.783C>G | p.S261R | Missense | 2/28 | - | 1 |
7-11675996-G-T | c.783C>A | p.S261R | Missense | 2/28 | - | 1 |
7-11675998-T-G | c.781A>C | p.S261R | Missense | 2/28 | - | 1 |
7-11675999-C-A | c.780G>T | p.W260C | Missense | 2/28 | - | 1 |
7-11675999-C-T | c.780G>A | p.W260* | Nonsense | 2/28 | - | 2 |
7-11676000-C-T | c.779G>A | p.W260* | Nonsense | 2/28 | - | 1 |
7-11676002-G-A | c.777C>T | p.P259= | Synonymous | 2/28 | - | 1 |
7-11676002-G-C | c.777C>G | p.P259= | Synonymous | 2/28 | - | 1 |
7-11676003-G-A | c.776C>T | p.P259L | Missense | 2/28 | - | 2 |
7-11676004-G-A | c.775C>T | p.P259S | Missense | 2/28 | - | 2 |
7-11676005-C-A | c.774G>T | p.G258= | Synonymous | 2/28 | - | 1 |
7-11676005-C-G | c.774G>C | p.G258= | Synonymous | 2/28 | - | 1 |
7-11676005-C-T | c.774G>A | p.G258= | Synonymous | 2/28 | - | 1 |
7-11676006-C-T | c.773G>A | p.G258E | Missense | 2/28 | - | 1 |
7-11676012-T-G | c.767A>C | p.H256P | Missense | 2/28 | - | 1 |
7-11676015-A-T | c.764T>A | p.L255Q | Missense | 2/28 | - | 1 |
7-11676016-G-T | c.763C>A | p.L255M | Missense | 2/28 | - | 1 |
7-11676020-G-A | c.759C>T | p.Y253= | Synonymous | 2/28 | - | 1 |
7-11676020-G-C | c.759C>G | p.Y253* | Nonsense | 2/28 | - | 1 |
7-11676020-G-T | c.759C>A | p.Y253* | Nonsense | 2/28 | - | 1 |
7-11676023-C-A | c.756G>T | p.R252S | Missense | 2/28 | - | 1 |
7-11676023-CCT-ACA | c.754_756delinsTGT | p.R252C | Missense | 2/28 | - | 1 |
7-11676026-G-A | c.753C>T | p.L251= | Synonymous | 2/28 | - | 1 |
7-11676026-G-C | c.753C>G | p.L251= | Synonymous | 2/28 | - | 2 |
7-11676026-G-T | c.753C>A | p.L251= | Synonymous | 2/28 | - | 1 |
7-11676031-C-G | c.748G>C | p.E250Q | Missense | 2/28 | - | 1 |
7-11676031-C-T | c.748G>A | p.E250K | Missense | 2/28 | - | 2 |
7-11676033-T-G | c.746A>C | p.E249A | Missense | 2/28 | - | 1 |
7-11676034-C-T | c.745G>A | p.E249K | Missense | 2/28 | - | 1 |
7-11676035-G-A | c.744C>T | p.A248= | Synonymous | 2/28 | - | 1 |
7-11676035-G-C | c.744C>G | p.A248= | Synonymous | 2/28 | - | 1 |
7-11676035-G-T | c.744C>A | p.A248= | Synonymous | 2/28 | - | 1 |
7-11676037-C-A | c.742G>T | p.A248S | Missense | 2/28 | - | 1 |
7-11676039-T-A | c.740A>T | p.E247V | Missense | 2/28 | - | 1 |
7-11676040-C-A | c.739G>T | p.E247* | Nonsense | 2/28 | - | 1 |
7-11676040-C-G | c.739G>C | p.E247Q | Missense | 2/28 | - | 1 |
7-11676040-C-T | c.739G>A | p.E247K | Missense | 2/28 | - | 9 |
7-11676041-G-A | c.738C>T | p.C246= | Synonymous | 2/28 | - | 4 |
7-11676041-G-C | c.738C>G | p.C246W | Missense | 2/28 | - | 1 |
7-11676045-G-A | c.734C>T | p.P245L | Missense | 2/28 | - | 1 |
7-11676045-G-T | c.734C>A | p.P245Q | Missense | 2/28 | - | 1 |
7-11676046-G-A | c.733C>T | p.P245S | Missense | 2/28 | - | 1 |
7-11676051-G-A | c.728C>T | p.S243F | Missense | 2/28 | - | 4 |
7-11676051-G-C | c.728C>G | p.S243C | Missense | 2/28 | - | 1 |
7-11676061-C-A | c.718G>T | p.V240L | Missense | 2/28 | - | 1 |
7-11676061-C-G | c.718G>C | p.V240L | Missense | 2/28 | - | 1 |
7-11676062-C-A | c.717G>T | p.Q239H | Missense | 2/28 | - | 1 |
7-11676062-C-G | c.717G>C | p.Q239H | Missense | 2/28 | - | 1 |
7-11676064-G-A | c.715C>T | p.Q239* | Nonsense | 2/28 | - | 1 |
7-11676065-G-C | c.714C>G | p.F238L | Missense | 2/28 | - | 8 |
7-11676065-G-T | c.714C>A | p.F238L | Missense | 2/28 | - | 5 |
7-11676067-A-G | c.712T>C | p.F238L | Missense | 2/28 | - | 5 |
7-11676067-A-T | c.712T>A | p.F238I | Missense | 2/28 | - | 1 |
7-11676070-C-A | c.709G>T | p.E237* | Nonsense | 2/28 | - | 1 |
7-11676070-C-T | c.709G>A | p.E237K | Missense | 2/28 | - | 3 |
7-11676071-C-A | c.708G>T | p.T236= | Synonymous | 2/28 | - | 1 |
7-11676071-C-G | c.708G>C | p.T236= | Synonymous | 2/28 | - | 1 |
7-11676071-C-T | c.708G>A | p.T236= | Synonymous | 2/28 | - | 3 |
7-11676072-G-A | c.707C>T | p.T236M | Missense | 2/28 | - | 8 |
7-11676074-CAG-GAT | c.703_705delinsATC | p.L235I | Missense | 2/28 | - | 1 |
7-11676079-T-C | c.700A>G | p.N234D | Missense | 2/28 | - | 1 |
7-11676083-A-T | c.696T>A | p.C232* | Nonsense | 2/28 | - | 3 |
7-11676084-C-A | c.695G>T | p.C232F | Missense | 2/28 | - | 1 |
7-11676086-G-A | c.693C>T | p.G231= | Synonymous | 2/28 | - | 2 |
7-11676086-G-C | c.693C>G | p.G231= | Synonymous | 2/28 | - | 1 |
7-11676086-G-T | c.693C>A | p.G231= | Synonymous | 2/28 | - | 1 |
7-11676094-C-T | c.685G>A | p.G229S | Missense | 2/28 | - | 1 |
7-11676098-G-A | c.681C>T | p.F227= | Synonymous | 2/28 | - | 4 |
7-11676102-T-C | c.677A>G | p.Q226R | Missense | 2/28 | - | 1 |
7-11676107-G-A | c.672C>T | p.P224= | Synonymous | 2/28 | - | 5 |
7-11676107-G-C | c.672C>G | p.P224= | Synonymous | 2/28 | - | 1 |
7-11676107-G-T | c.672C>A | p.P224= | Synonymous | 2/28 | - | 1 |
7-11676108-G-A | c.671C>T | p.P224L | Missense | 2/28 | - | 3 |
7-11676108-G-T | c.671C>A | p.P224H | Missense | 2/28 | - | 1 |
7-11676104-CG-C | c.674del | p.P225Rfs*11 | Frameshift | 2/28 | - | 2 |
7-11676109-G-A | c.670C>T | p.P224S | Missense | 2/28 | - | 1 |
7-11676109-G-T | c.670C>A | p.P224T | Missense | 2/28 | - | 1 |
7-11676110-C-T | c.669G>A | p.A223= | Synonymous | 2/28 | - | 1 |
7-11676111-G-A | c.668C>T | p.A223V | Missense | 2/28 | - | 3 |
7-11676112-C-G | c.667G>C | p.A223P | Missense | 2/28 | - | 1 |
7-11676112-C-T | c.667G>A | p.A223T | Missense | 2/28 | - | 1 |
7-11676115-C-A | c.664G>T | p.V222L | Missense | 2/28 | - | 1 |
7-11676115-C-G | c.664G>C | p.V222L | Missense | 2/28 | - | 1 |
7-11676115-C-T | c.664G>A | p.V222M | Missense | 2/28 | - | 2 |
7-11676118-C-T | c.661G>A | p.V221M | Missense | 2/28 | - | 1 |
7-11676121-G-A | c.658C>T | p.H220Y | Missense | 2/28 | - | 2 |
7-11676122-A-C | c.657T>G | p.R219= | Synonymous | 2/28 | - | 1 |
7-11676122-A-G | c.657T>C | p.R219= | Synonymous | 2/28 | - | 1 |
7-11676122-A-T | c.657T>A | p.R219= | Synonymous | 2/28 | - | 1 |
7-11676123-C-A | c.656G>T | p.R219L | Missense | 2/28 | - | 1 |
7-11676123-C-G | c.656G>C | p.R219P | Missense | 2/28 | - | 1 |
7-11676123-C-T | c.656G>A | p.R219H | Missense | 2/28 | - | 4 |
7-11676124-G-A | c.655C>T | p.R219C | Missense | 2/28 | - | 1 |
7-11676125-C-A | c.654G>T | p.T218= | Synonymous | 2/28 | - | 2 |
7-11676125-C-G | c.654G>C | p.T218= | Synonymous | 2/28 | - | 2 |
7-11676125-C-T | c.654G>A | p.T218= | Synonymous | 2/28 | - | 2 |
7-11676126-G-A | c.653C>T | p.T218M | Missense | 2/28 | - | 1 |
7-11676126-G-T | c.653C>A | p.T218K | Missense | 2/28 | - | 1 |
7-11676128-C-G | c.651G>C | p.R217= | Synonymous | 2/28 | - | 3 |
7-11676129-C-T | c.650G>A | p.R217Q | Missense | 2/28 | - | 8 |
7-11676128-C-A | c.651G>T | p.R217= | Synonymous | 2/28 | - | 2 |
7-11676128-C-T | c.651G>A | p.R217= | Synonymous | 2/28 | - | 3 |
7-11676130-G-A | c.649C>T | p.R217W | Missense | 2/28 | - | 2 |
7-11676130-G-T | c.649C>A | p.R217= | Synonymous | 2/28 | - | 2 |
7-11676136-G-A | c.643C>T | p.Q215* | Nonsense | 2/28 | - | 2 |
7-11676137-G-A | c.642C>T | p.L214= | Synonymous | 2/28 | - | 1 |
7-11676137-G-C | c.642C>G | p.L214= | Synonymous | 2/28 | - | 1 |
7-11676137-G-T | c.642C>A | p.L214= | Synonymous | 2/28 | - | 1 |
7-11676139-G-A | c.640C>T | p.L214F | Missense | 2/28 | - | 1 |
7-11676141-C-T | c.638G>A | p.G213E | Missense | 2/28 | - | 3 |
7-11676142-C-G | c.637G>C | p.G213R | Missense | 2/28 | - | 1 |
7-11676142-C-T | c.637G>A | p.G213R | Missense | 2/28 | - | 1 |
7-11676143-G-A | c.636C>T | p.S212= | Synonymous | 2/28 | - | 3 |
7-11676143-G-T | c.636C>A | p.S212R | Missense | 2/28 | - | 1 |
7-11676144-CT-AG | c.634_635inv | p.S212L | Missense | 2/28 | - | 1 |
7-11676147-C-T | c.632G>A | p.G211D | Missense | 2/28 | - | 1 |
7-11676148-C-G | c.631G>C | p.G211R | Missense | 2/28 | - | 2 |
7-11676148-C-T | c.631G>A | p.G211S | Missense | 2/28 | - | 2 |
7-11676149-G-A | c.630C>T | p.C210= | Synonymous | 2/28 | - | 2 |
7-11676151-A-G | c.628T>C | p.C210R | Missense | 2/28 | - | 1 |
7-11676156-T-G | c.623A>C | p.K208T | Missense | 2/28 | - | 1 |
7-11676159-G-A | c.620C>T | p.S207F | Missense | 2/28 | - | 1 |
7-11676159-G-T | c.620C>A | p.S207Y | Missense | 2/28 | - | 1 |
7-11676161-G-A | c.618C>T | p.C206= | Synonymous | 2/28 | - | 2 |
7-11676162-C-T | c.617G>A | p.C206Y | Missense | 2/28 | - | 1 |
7-11676166-C-T | c.613G>A | p.E205K | Missense | 2/28 | - | 3 |
7-11676167-G-A | c.612C>T | p.S204= | Synonymous | 2/28 | - | 4 |
7-11676167-G-C | c.612C>G | p.S204= | Synonymous | 2/28 | - | 4 |
7-11676167-G-T | c.612C>A | p.S204= | Synonymous | 2/28 | - | 4 |
7-11676171-C-A | c.608G>T | p.W203L | Missense | 2/28 | - | 1 |
7-11676171-C-G | c.608G>C | p.W203S | Missense | 2/28 | - | 1 |
7-11676173-G-A | c.606C>T | p.A202= | Synonymous | 2/28 | - | 3 |
7-11676173-G-C | c.606C>G | p.A202= | Synonymous | 2/28 | - | 3 |
7-11676173-G-T | c.606C>A | p.A202= | Synonymous | 2/28 | - | 3 |
7-11676175-C-A | c.604G>T | p.A202S | Missense | 2/28 | - | 1 |
7-11676176-AG-TT | c.602_603delinsAA | p.S201* | Nonsense | 2/28 | - | 1 |
7-11676180-A-C | c.599T>G | p.F200C | Missense | 2/28 | - | 1 |
7-11676182-T-C | c.597A>G | p.E199= | Synonymous | 2/28 | - | 1 |
7-11676184-C-T | c.595G>A | p.E199K | Missense | 2/28 | - | 7 |
7-11676186-G-A | c.593C>T | p.S198F | Missense | 2/28 | - | 3 |
7-11676190-C-T | c.589G>A | p.V197M | Missense | 2/28 | - | 1 |
7-11676191-G-A | c.588C>T | p.I196= | Synonymous | 2/28 | - | 6 |
7-11676191-G-T | c.588C>A | p.I196= | Synonymous | 2/28 | - | 1 |
7-11676196-A-T | c.583T>A | p.C195S | Missense | 2/28 | - | 1 |
7-11676199-C-G | c.580G>C | p.D194H | Missense | 2/28 | - | 1 |
7-11676200-T-TTGG | c.578_579insCCA | p.Q192_Q193insH | InFrameInsertion | 2/28 | - | 1 |
7-11676204-T-A | c.575A>T | p.Q192L | Missense | 2/28 | - | 1 |
7-11676205-G-A | c.574C>T | p.Q192* | Nonsense | 2/28 | - | 1 |
7-11676205-G-C | c.574C>G | p.Q192E | Missense | 2/28 | - | 1 |
7-11676205-G-T | c.574C>A | p.Q192K | Missense | 2/28 | - | 1 |
7-11676206-G-T | c.573C>A | p.C191* | Nonsense | 2/28 | - | 2 |
7-11676209-A-C | c.570T>G | p.P190= | Synonymous | 2/28 | - | 2 |
7-11676211-G-A | c.568C>T | p.P190S | Missense | 2/28 | - | 2 |
7-11676214-T-C | c.565A>G | p.I189V | Missense | 2/28 | - | 1 |
7-11676215-G-A | c.564C>T | p.L188= | Synonymous | 2/28 | - | 1 |
7-11676215-G-C | c.564C>G | p.L188= | Synonymous | 2/28 | - | 1 |
7-11676215-G-T | c.564C>A | p.L188= | Synonymous | 2/28 | - | 1 |
7-11676217-G-T | c.562C>A | p.L188I | Missense | 2/28 | - | 1 |
7-11676219-C-T | c.560G>A | p.C187Y | Missense | 2/28 | - | 1 |
7-11676226-G-A | c.553C>T | p.Q185* | Nonsense | 2/28 | - | 1 |
7-11676229-C-A | c.550G>T | p.E184* | Nonsense | 2/28 | - | 1 |
7-11676229-C-G | c.550G>C | p.E184Q | Missense | 2/28 | - | 1 |
7-11676229-C-T | c.550G>A | p.E184K | Missense | 2/28 | - | 2 |
7-11676233-G-A | c.546C>T | p.L182= | Synonymous | 2/28 | - | 1 |
7-11676233-G-C | c.546C>G | p.L182= | Synonymous | 2/28 | - | 1 |
7-11676233-G-T | c.546C>A | p.L182= | Synonymous | 2/28 | - | 1 |
7-11676237-G-A | c.542C>T | p.P181L | Missense | 2/28 | - | 1 |
7-11676239-C-CT | c.539dup | p.P181Afs*19 | Frameshift | 2/28 | - | 1 |
7-11676243-G-T | c.536C>A | p.P179H | Missense | 2/28 | - | 1 |
7-11676244-G-A | c.535C>T | p.P179S | Missense | 2/28 | - | 2 |
7-11676247-C-G | c.532G>C | p.E178Q | Missense | 2/28 | - | 2 |
7-11676253-A-G | c.526T>C | p.Y176H | Missense | 2/28 | - | 1 |
7-11676257-A-G | c.522T>C | p.C174= | Synonymous | 2/28 | - | 1 |
7-11676260-G-C | c.519C>G | p.I173M | Missense | 2/28 | - | 2 |
7-11676262-T-G | c.517A>C | p.I173L | Missense | 2/28 | - | 1 |
7-11676263-G-A | c.516C>T | p.I172= | Synonymous | 2/28 | - | 4 |
7-11676265-T-C | c.514A>G | p.I172V | Missense | 2/28 | - | 3 |
7-11676269-C-G | c.510G>C | p.E170D | Missense | 2/28 | - | 1 |
7-11676271-C-T | c.508G>A | p.E170K | Missense | 2/28 | - | 2 |
7-11676273-G-A | c.506C>T | p.A169V | Missense | 2/28 | - | 3 |
7-11676273-G-C | c.506C>G | p.A169G | Missense | 2/28 | - | 1 |
7-11676273-G-T | c.506C>A | p.A169E | Missense | 2/28 | - | 2 |
7-11676275-A-T | c.504T>A | p.P168= | Synonymous | 2/28 | - | 1 |
7-11676276-G-A | c.503C>T | p.P168L | Missense | 2/28 | - | 2 |
7-11676276-G-T | c.503C>A | p.P168H | Missense | 2/28 | - | 1 |
7-11676277-G-A | c.502C>T | p.P168S | Missense | 2/28 | - | 6 |
7-11676282-T-C | c.497A>G | p.D166G | Missense | 2/28 | - | 3 |
7-11676282-T-G | c.497A>C | p.D166A | Missense | 2/28 | - | 1 |
7-11676283-C-A | c.496G>T | p.D166Y | Missense | 2/28 | - | 2 |
7-11676285-T-C | c.494A>G | p.K165R | Missense | 2/28 | - | 3 |
7-11676289-C-G | c.490G>C | p.D164H | Missense | 2/28 | - | 1 |
7-11676289-C-T | c.490G>A | p.D164N | Missense | 2/28 | - | 3 |
7-11676293-C-T | c.486G>A | p.Q162= | Synonymous | 2/28 | - | 2 |
7-11676296-G-A | c.483C>T | p.I161= | Synonymous | 2/28 | - | 2 |
7-11676296-G-T | c.483C>A | p.I161= | Synonymous | 2/28 | - | 3 |
7-11676303-G-A | c.476C>T | p.A159V | Missense | 2/28 | - | 1 |
7-11676304-C-G | c.475G>C | p.A159P | Missense | 2/28 | - | 2 |
7-11676304-C-T | c.475G>A | p.A159T | Missense | 2/28 | - | 3 |
7-11676308-C-A | c.471G>T | p.E157D | Missense | 2/28 | - | 2 |
7-11676308-C-G | c.471G>C | p.E157D | Missense | 2/28 | - | 2 |
7-11676308-C-T | c.471G>A | p.E157= | Synonymous | 2/28 | - | 2 |
7-11676310-C-T | c.469G>A | p.E157K | Missense | 2/28 | - | 4 |
7-11676311-C-T | c.468G>A | p.R156= | Synonymous | 2/28 | - | 1 |
7-11676312-C-A | c.467G>T | p.R156M | Missense | 2/28 | - | 2 |
7-11676312-C-T | c.467G>A | p.R156K | Missense | 2/28 | - | 1 |
7-11676312-CT-TA | c.466_467delinsTA | p.R156* | Nonsense | 2/28 | - | 1 |
7-11676315-A-G | c.464T>C | p.V155A | Missense | 2/28 | - | 1 |
7-11676315-A-T | c.464T>A | p.V155E | Missense | 2/28 | - | 1 |
7-11676316-C-A | c.463G>T | p.V155L | Missense | 2/28 | - | 1 |
7-11676316-C-G | c.463G>C | p.V155L | Missense | 2/28 | - | 1 |
7-11676317-C-T | c.462G>A | p.Q154= | Synonymous | 2/28 | - | 1 |
7-11676318-T-C | c.461A>G | p.Q154R | Missense | 2/28 | - | 1 |
7-11676319-G-A | c.460C>T | p.Q154* | Nonsense | 2/28 | - | 6 |
7-11676323-A-G | c.456T>C | p.G152= | Synonymous | 2/28 | - | 1 |
7-11676324-C-A | c.455G>T | p.G152V | Missense | 2/28 | - | 1 |
7-11676325-C-A | c.454G>T | p.G152C | Missense | 2/28 | - | 1 |
7-11676325-C-T | c.454G>A | p.G152S | Missense | 2/28 | - | 3 |
7-11676326-T-A | c.453A>T | p.E151D | Missense | 2/28 | - | 1 |
7-11676326-T-G | c.453A>C | p.E151D | Missense | 2/28 | - | 1 |
7-11676327-T-C | c.452A>G | p.E151G | Missense | 2/28 | - | 3 |
7-11676327-T-G | c.452A>C | p.E151A | Missense | 2/28 | - | 3 |
7-11676330-T-C | c.449A>G | p.E150G | Missense | 2/28 | - | 1 |
7-11676331-C-T | c.448G>A | p.E150K | Missense | 2/28 | - | 6 |
7-11676334-C-A | c.445G>T | p.G149W | Missense | 2/28 | - | 1 |
7-11676334-C-G | c.445G>C | p.G149R | Missense | 2/28 | - | 2 |
7-11676334-C-T | c.445G>A | p.G149R | Missense | 2/28 | - | 4 |
7-11676330-TC-T | c.448del | p.E150Kfs*6 | Frameshift | 2/28 | - | 1 |
7-11676335-C-A | c.444G>T | p.K148N | Missense | 2/28 | - | 4 |
7-11676339-A-C | c.440T>G | p.I147S | Missense | 2/28 | - | 1 |
7-11676341-G-C | c.438C>G | p.C146W | Missense | 2/28 | - | 1 |
7-11676342-C-T | c.437G>A | p.C146Y | Missense | 2/28 | - | 1 |
7-11676342-C-G | c.437G>C | p.C146S | Missense | 2/28 | - | 2 |
7-11676343-A-T | c.436T>A | p.C146S | Missense | 2/28 | - | 3 |
7-11676350-A-C | c.429T>G | p.P143= | Synonymous | 2/28 | - | 1 |
7-11676350-A-G | c.429T>C | p.P143= | Synonymous | 2/28 | - | 1 |
7-11676350-A-T | c.429T>A | p.P143= | Synonymous | 2/28 | - | 1 |
7-11676351-G-A | c.428C>T | p.P143L | Missense | 2/28 | - | 1 |
7-11676351-G-T | c.428C>A | p.P143H | Missense | 2/28 | - | 2 |
7-11676353-T-C | c.426A>G | p.K142= | Synonymous | 2/28 | - | 1 |
7-11676356-C-T | c.423G>A | p.E141= | Synonymous | 2/28 | - | 4 |
7-11676358-C-A | c.421G>T | p.E141* | Nonsense | 2/28 | - | 2 |
7-11676358-C-G | c.421G>C | p.E141Q | Missense | 2/28 | - | 1 |
7-11676362-G-A | c.417C>T | p.S139= | Synonymous | 2/28 | - | 2 |
7-11676363-C-T | c.416G>A | p.S139N | Missense | 2/28 | - | 1 |
7-11676366-T-C | c.413A>G | p.K138R | Missense | 2/28 | - | 1 |
7-11676368-TG-AC | c.410_411delinsGT | p.S137C | Missense | 2/28 | - | 1 |
7-11676369-GA-CC | c.409_410delinsGG | p.S137G | Missense | 2/28 | - | 1 |
7-11676371-A-C | c.408T>G | p.I136M | Missense | 2/28 | - | 1 |
7-11676369-GA-G | c.409del | p.S137Qfs*4 | Frameshift | 2/28 | - | 1 |
7-11676372-A-C | c.407T>G | p.I136S | Missense | 2/28 | - | 3 |
7-11676374-C-A | c.405G>T | p.V135= | Synonymous | 2/28 | - | 1 |
7-11676374-C-G | c.405G>C | p.V135= | Synonymous | 2/28 | - | 1 |
7-11676374-C-T | c.405G>A | p.V135= | Synonymous | 2/28 | - | 3 |
7-11676376-C-A | c.403G>T | p.V135L | Missense | 2/28 | - | 2 |
7-11676376-C-G | c.403G>C | p.V135L | Missense | 2/28 | - | 1 |
7-11676376-C-T | c.403G>A | p.V135M | Missense | 2/28 | - | 4 |
7-11676377-G-A | c.402C>T | p.P134= | Synonymous | 2/28 | - | 14 |
7-11676377-G-C | c.402C>G | p.P134= | Synonymous | 2/28 | - | 4 |
7-11676377-G-T | c.402C>A | p.P134= | Synonymous | 2/28 | - | 12 |
7-11676378-G-A | c.401C>T | p.P134L | Missense | 2/28 | - | 1 |
7-11676382-G-C | c.397C>G | p.Q133E | Missense | 2/28 | - | 2 |
7-11676384-C-G | c.395G>C | p.C132S | Missense | 2/28 | - | 1 |
7-11676385-A-T | c.394T>A | p.C132S | Missense | 2/28 | - | 1 |
7-11676386-C-A | c.393G>T | p.Q131H | Missense | 2/28 | - | 1 |
7-11676386-C-G | c.393G>C | p.Q131H | Missense | 2/28 | - | 1 |
7-11676391-T-G | c.388A>C | p.N130H | Missense | 2/28 | - | 1 |
7-11676392-C-T | c.387G>A | p.W129* | Nonsense | 2/28 | - | 4 |
7-11676396-G-T | c.383C>A | p.P128H | Missense | 2/28 | - | 3 |
7-11676400-C-G | c.379G>C | p.G127R | Missense | 2/28 | - | 1 |
7-11676400-C-T | c.379G>A | p.G127R | Missense | 2/28 | - | 2 |
7-11676404-TCT-ATG | c.373_375delinsCAT | p.R125H | Missense | 2/28 | - | 1 |
7-11676405-C-T | c.374G>A | p.R125K | Missense | 2/28 | - | 1 |
7-11676407-C-T | c.372G>A | p.W124* | Nonsense | 2/28 | - | 2 |
7-11676408-C-T | c.371G>A | p.W124* | Nonsense | 2/28 | - | 2 |
7-11676409-A-G | c.370T>C | p.W124R | Missense | 2/28 | - | 2 |
7-11676409-A-T | c.370T>A | p.W124R | Missense | 2/28 | - | 2 |
7-11676412-C-A | c.367G>T | p.D123Y | Missense | 2/28 | - | 1 |
7-11676412-C-G | c.367G>C | p.D123H | Missense | 2/28 | - | 1 |
7-11676412-C-T | c.367G>A | p.D123N | Missense | 2/28 | - | 4 |
7-11676413-G-A | c.366C>T | p.Y122= | Synonymous | 2/28 | - | 1 |
7-11676416-C-T | c.363G>A | p.L121= | Synonymous | 2/28 | - | 1 |
7-11676421-C-G | c.358G>C | p.E120Q | Missense | 2/28 | - | 1 |
7-11676421-C-T | c.358G>A | p.E120K | Missense | 2/28 | - | 1 |
7-11676429-C-A | c.350G>T | p.W117L | Missense | 2/28 | - | 1 |
7-11676431-A-G | c.348T>C | p.D116= | Synonymous | 2/28 | - | 1 |
7-11676433-C-A | c.346G>T | p.D116Y | Missense | 2/28 | - | 2 |
7-11676433-C-T | c.346G>A | p.D116N | Missense | 2/28 | - | 3 |
7-11676434-G-A | c.345C>T | p.C115= | Synonymous | 2/28 | - | 2 |
7-11676439-C-T | c.340G>A | p.V114I | Missense | 2/28 | - | 1 |
7-11676440-T-A | c.339A>T | p.K113N | Missense | 2/28 | - | 1 |
7-11676440-T-C | c.339A>G | p.K113= | Synonymous | 2/28 | - | 1 |
7-11676440-T-G | c.339A>C | p.K113N | Missense | 2/28 | - | 1 |
7-11676443-G-A | c.336C>T | p.F112= | Synonymous | 2/28 | - | 1 |
7-11676447-C-T | c.332G>A | p.C111Y | Missense | 2/28 | - | 1 |
7-11676449-A-G | c.330T>C | p.N110= | Synonymous | 2/28 | - | 2 |
7-11676453-T-G | c.326A>C | p.Q109P | Missense | 2/28 | - | 2 |
7-11676456-T-G | c.323A>C | p.Q108P | Missense | 2/28 | - | 2 |
7-11676457-G-A | c.322C>T | p.Q108* | Nonsense | 2/28 | - | 1 |
7-11676458-G-A | c.321C>T | p.N107= | Synonymous | 2/28 | - | 1 |
7-11676458-G-T | c.321C>A | p.N107K | Missense | 2/28 | - | 1 |
7-11676463-T-A | c.316A>T | p.N106Y | Missense | 2/28 | - | 4 |
7-11676464-G-A | c.315C>T | p.P105= | Synonymous | 2/28 | - | 3 |
7-11676464-G-C | c.315C>G | p.P105= | Synonymous | 2/28 | - | 2 |
7-11676464-G-T | c.315C>A | p.P105= | Synonymous | 2/28 | - | 2 |
7-11676465-G-C | c.314C>G | p.P105R | Missense | 2/28 | - | 1 |
7-11676467-TC-CA | c.311_312delinsTG | p.R104M | Missense | 2/28 | - | 1 |
7-11676467-TCT-ATG | c.310_312delinsCAT | p.R104H | Missense | 2/28 | - | 1 |
7-11676468-C-T | c.311G>A | p.R104K | Missense | 2/28 | - | 1 |
7-11676470-C-G | c.309G>C | p.E103D | Missense | 2/28 | - | 1 |
7-11676471-T-A | c.308A>T | p.E103V | Missense | 2/28 | - | 3 |
7-11676472-C-A | c.307G>T | p.E103* | Nonsense | 2/28 | - | 1 |
7-11676472-C-G | c.307G>C | p.E103Q | Missense | 2/28 | - | 1 |
7-11676473-G-A | c.306C>T | p.A102= | Synonymous | 2/28 | - | 5 |
7-11676473-G-C | c.306C>G | p.A102= | Synonymous | 2/28 | - | 1 |
7-11676473-G-T | c.306C>A | p.A102= | Synonymous | 2/28 | - | 1 |
7-11676475-C-A | c.304G>T | p.A102S | Missense | 2/28 | - | 1 |
7-11676479-C-T | c.300G>A | p.K100= | Synonymous | 2/28 | - | 3 |
7-11676481-T-A | c.298A>T | p.K100* | Nonsense | 2/28 | - | 1 |
7-11676481-T-C | c.298A>G | p.K100E | Missense | 2/28 | - | 1 |
7-11676483-C-G | c.296G>C | p.C99S | Missense | 2/28 | - | 1 |
7-11676485-G-A | c.294C>T | p.N98= | Synonymous | 2/28 | - | 1 |
7-11676491-A-G | c.288T>C | p.H96= | Synonymous | 2/28 | - | 1 |
7-11676492-T-C | c.287A>G | p.H96R | Missense | 2/28 | - | 1 |
7-11676495-A-G | c.284T>C | p.L95P | Missense | 2/28 | - | 1 |
7-11676495-A-T | c.284T>A | p.L95Q | Missense | 2/28 | - | 1 |
7-11676497-T-A | c.282A>T | p.T94= | Synonymous | 2/28 | - | 1 |
7-11676497-T-C | c.282A>G | p.T94= | Synonymous | 2/28 | - | 1 |
7-11676497-T-G | c.282A>C | p.T94= | Synonymous | 2/28 | - | 1 |
7-11676499-T-C | c.280A>G | p.T94A | Missense | 2/28 | - | 1 |
7-11676501-G-A | c.278C>T | p.T93I | Missense | 2/28 | - | 2 |
7-11676505-A-G | c.274T>C | p.W92R | Missense | 2/28 | - | 1 |
7-11676505-A-T | c.274T>A | p.W92R | Missense | 2/28 | - | 1 |
7-11676508-C-G | c.271G>C | p.G91R | Missense | 2/28 | - | 1 |
7-11676508-C-T | c.271G>A | p.G91R | Missense | 2/28 | - | 1 |
7-11676509-C-A | c.270G>T | p.E90D | Missense | 2/28 | - | 1 |
7-11676509-C-G | c.270G>C | p.E90D | Missense | 2/28 | - | 1 |
7-11676511-C-T | c.268G>A | p.E90K | Missense | 2/28 | - | 1 |
7-11676517-G-A | c.262C>T | p.H88Y | Missense | 2/28 | - | 1 |
7-11676524-C-T | c.255G>A | p.W85* | Nonsense | 2/28 | - | 3 |
7-11676525-C-T | c.254G>A | p.W85* | Nonsense | 2/28 | - | 7 |
7-11676529-C-T | c.250G>A | p.V84M | Missense | 2/28 | - | 1 |
7-11676530-AGC-CAT | c.247_249delinsATG | p.A83M | Missense | 2/28 | - | 1 |
7-11676531-G-A | c.248C>T | p.A83V | Missense | 2/28 | - | 5 |
7-11676531-GC-AG | c.247_248delinsCT | p.A83L | Missense | 2/28 | - | 1 |
7-11676531-GC-TT | c.247_248delinsAA | p.A83N | Missense | 2/28 | - | 1 |
7-11676533-CCT-ACA | c.244_246delinsTGT | p.R82C | Missense | 2/28 | - | 1 |
7-11676533-C-G | c.246G>C | p.R82S | Missense | 2/28 | - | 1 |
7-11676533-C-T | c.246G>A | p.R82= | Synonymous | 2/28 | - | 2 |
7-11676535-T-G | c.244A>C | p.R82= | Synonymous | 2/28 | - | 2 |
7-11676534-C-A | c.245G>T | p.R82M | Missense | 2/28 | - | 4 |
7-11676536-C-A | c.243G>T | p.T81= | Synonymous | 2/28 | - | 1 |
7-11676536-C-G | c.243G>C | p.T81= | Synonymous | 2/28 | - | 1 |
7-11676536-C-T | c.243G>A | p.T81= | Synonymous | 2/28 | - | 4 |
7-11676538-T-C | c.241A>G | p.T81A | Missense | 2/28 | - | 1 |
7-11676540-T-A | c.239A>T | p.Q80L | Missense | 2/28 | - | 1 |
7-11676541-G-C | c.238C>G | p.Q80E | Missense | 2/28 | - | 1 |
7-11676545-G-A | c.234C>T | p.G78= | Synonymous | 2/28 | - | 3 |
7-11676545-G-C | c.234C>G | p.G78= | Synonymous | 2/28 | - | 1 |
7-11676545-G-T | c.234C>A | p.G78= | Synonymous | 2/28 | - | 1 |
7-11676547-C-T | c.232G>A | p.G78S | Missense | 2/28 | - | 3 |
7-11676550-C-A | c.229G>T | p.G77* | Nonsense | 2/28 | - | 1 |
7-11676550-C-G | c.229G>C | p.G77R | Missense | 2/28 | - | 1 |
7-11676550-C-T | c.229G>A | p.G77R | Missense | 2/28 | - | 5 |
7-11676551-G-A | c.228C>T | p.P76= | Synonymous | 2/28 | - | 1 |
7-11676551-G-T | c.228C>A | p.P76= | Synonymous | 2/28 | - | 2 |
7-11676553-G-A | c.226C>T | p.P76S | Missense | 2/28 | - | 1 |
7-11676553-G-T | c.226C>A | p.P76T | Missense | 2/28 | - | 1 |
7-11676554-A-C | c.225T>G | p.G75= | Synonymous | 2/28 | - | 2 |
7-11676554-A-G | c.225T>C | p.G75= | Synonymous | 2/28 | - | 2 |
7-11676554-A-T | c.225T>A | p.G75= | Synonymous | 2/28 | - | 2 |
7-11676558-C-G | c.221G>C | p.C74S | Missense | 2/28 | - | 1 |
7-11676558-C-T | c.221G>A | p.C74Y | Missense | 2/28 | - | 1 |
7-11676562-C-T | c.217G>A | p.E73K | Missense | 2/28 | - | 1 |
7-11676563-A-G | c.216T>C | p.D72= | Synonymous | 2/28 | - | 1 |
7-11676567-C-T | c.212G>A | p.G71E | Missense | 2/28 | - | 3 |
7-11676569-C-A | c.210G>T | p.M70I | Missense | 2/28 | - | 1 |
7-11676569-C-G | c.210G>C | p.M70I | Missense | 2/28 | - | 2 |
7-11676569-C-T | c.210G>A | p.M70I | Missense | 2/28 | - | 1 |
7-11676575-TCG-CAT | c.202_204delinsATG | p.R68M | Missense | 2/28 | - | 1 |
7-11676576-C-T | c.203G>A | p.R68Q | Missense | 2/28 | - | 7 |
7-11676578-G-A | c.201C>T | p.G67= | Synonymous | 2/28 | - | 1 |
7-11676579-C-T | c.200G>A | p.G67D | Missense | 2/28 | - | 4 |
7-11676580-C-T | c.199G>A | p.G67S | Missense | 2/28 | - | 3 |
7-11676581-C-T | c.198G>A | p.W66* | Nonsense | 2/28 | - | 1 |
7-11676583-A-G | c.196T>C | p.W66R | Missense | 2/28 | - | 1 |
7-11676583-A-T | c.196T>A | p.W66R | Missense | 2/28 | - | 1 |
7-11676584-T-A | c.195A>T | p.P65= | Synonymous | 2/28 | - | 1 |
7-11676584-T-C | c.195A>G | p.P65= | Synonymous | 2/28 | - | 1 |
7-11676584-T-G | c.195A>C | p.P65= | Synonymous | 2/28 | - | 1 |
7-11676585-G-A | c.194C>T | p.P65L | Missense | 2/28 | - | 1 |
7-11676587-AC-CT | c.191_192delinsAG | p.G64E | Missense | 2/28 | - | 1 |
7-11676588-C-T | c.191G>A | p.G64D | Missense | 2/28 | - | 2 |
7-11676694-C-A | c.191-106G>T | - | IntronicSNV | - | 1/27 | 6 |
7-11677452-A-G | c.191-864T>C | - | IntronicSNV | - | 1/27 | 2 |
7-11677778-T-C | c.191-1190A>G | - | IntronicSNV | - | 1/27 | 1 |
7-11679113-A-G | c.191-2525T>C | - | IntronicSNV | - | 1/27 | 4 |
7-11679431-C-T | c.191-2843G>A | - | IntronicSNV | - | 1/27 | 1 |
7-11681764-T-C | c.191-5176A>G | - | IntronicSNV | - | 1/27 | 1 |
7-11681776-C-T | c.191-5188G>A | - | IntronicSNV | - | 1/27 | 1 |
7-11683379-C-A | c.191-6791G>T | - | IntronicSNV | - | 1/27 | 1 |
7-11683379-C-G | c.191-6791G>C | - | IntronicSNV | - | 1/27 | 1 |
7-11696429-C-T | c.191-19841G>A | - | IntronicSNV | - | 1/27 | 1 |
7-11699149-G-A | c.191-22561C>T | - | IntronicSNV | - | 1/27 | 1 |
7-11705056-G-A | c.191-28468C>T | - | IntronicSNV | - | 1/27 | 1 |
7-11705786-T-C | c.191-29198A>G | - | IntronicSNV | - | 1/27 | 3 |
7-11712490-G-C | c.191-35902C>G | - | IntronicSNV | - | 1/27 | 1 |
7-11735302-C-T | c.191-58714G>A | - | IntronicSNV | - | 1/27 | 1 |
7-11739881-A-G | c.191-63293T>C | - | IntronicSNV | - | 1/27 | 1 |
7-11742205-G-A | c.191-65617C>T | - | IntronicSNV | - | 1/27 | 1 |
7-11766174-T-A | c.191-89586A>T | - | IntronicSNV | - | 1/27 | 1 |
7-11766174-T-C | c.191-89586A>G | - | IntronicSNV | - | 1/27 | 1 |
7-11777712-G-C | c.190+93671C>G | - | IntronicSNV | - | 1/27 | 1 |
7-11777747-C-A | c.190+93636G>T | - | IntronicSNV | - | 1/27 | 1 |
7-11777747-C-G | c.190+93636G>C | - | IntronicSNV | - | 1/27 | 1 |
7-11777747-C-T | c.190+93636G>A | - | IntronicSNV | - | 1/27 | 1 |
7-11777769-C-T | c.190+93614G>A | - | IntronicSNV | - | 1/27 | 1 |
7-11778975-A-G | c.190+92408T>C | - | IntronicSNV | - | 1/27 | 1 |
7-11779217-TA-T | c.190+92166del | - | IntronicDeletion | - | 1/27 | 1 |
7-11783800-T-C | c.190+87583A>G | - | IntronicSNV | - | 1/27 | 1 |
7-11783917-G-A | c.190+87466C>T | - | IntronicSNV | - | 1/27 | 2 |
7-11783957-T-C | c.190+87426A>G | - | IntronicSNV | - | 1/27 | 2 |
7-11785000-T-A | c.190+86383A>T | - | IntronicSNV | - | 1/27 | 1 |
7-11785000-T-C | c.190+86383A>G | - | IntronicSNV | - | 1/27 | 1 |
7-11787092-C-T | c.190+84291G>A | - | IntronicSNV | - | 1/27 | 1 |
7-11791621-A-C | c.190+79762T>G | - | IntronicSNV | - | 1/27 | 1 |
7-11795697-G-T | c.190+75686C>A | - | IntronicSNV | - | 1/27 | 1 |
7-11798784-TA-T | c.190+72598del | - | IntronicDeletion | - | 1/27 | 1 |
7-11800956-C-A | c.190+70427G>T | - | IntronicSNV | - | 1/27 | 1 |
7-11806289-C-A | c.190+65094G>T | - | IntronicSNV | - | 1/27 | 1 |
7-11809525-C-A | c.190+61858G>T | - | IntronicSNV | - | 1/27 | 1 |
7-11809525-C-T | c.190+61858G>A | - | IntronicSNV | - | 1/27 | 1 |
7-11814045-A-G | c.190+57338T>C | - | IntronicSNV | - | 1/27 | 1 |
7-11814271-G-A | c.190+57112C>T | - | IntronicSNV | - | 1/27 | 1 |
7-11816438-C-T | c.190+54945G>A | - | IntronicSNV | - | 1/27 | 1 |
7-11822409-T-A | c.190+48974A>T | - | IntronicSNV | - | 1/27 | 1 |
7-11822408-AT-A | c.190+48974del | - | IntronicDeletion | - | 1/27 | 1 |
7-11833555-G-C | c.190+37828C>G | - | IntronicSNV | - | 1/27 | 1 |
7-11834021-G-A | c.190+37362C>T | - | IntronicSNV | - | 1/27 | 1 |
7-11854145-T-C | c.190+17238A>G | - | IntronicSNV | - | 1/27 | 1 |
7-11856420-C-A | c.190+14963G>T | - | IntronicSNV | - | 1/27 | 1 |
7-11857827-G-T | c.190+13556C>A | - | IntronicSNV | - | 1/27 | 1 |
7-11859885-C-A | c.190+11498G>T | - | IntronicSNV | - | 1/27 | 1 |
7-11864927-GA-G | c.190+6455del | - | IntronicDeletion | - | 1/27 | 1 |
7-11867621-C-T | c.190+3762G>A | - | IntronicSNV | - | 1/27 | 1 |
7-11868651-G-A | c.190+2732C>T | - | IntronicSNV | - | 1/27 | 1 |
7-11871382-C-G | c.190+1G>C | - | IntronicSNV | - | 1/27 | 1 |
7-11871381-A-AC | c.190+1dup | - | SpliceDonorInsertion | 1/28 | - | 1 |
7-11871383-C-T | c.190G>A | p.G64S | Missense | 1/28 | - | 1 |
7-11871384-A-C | c.189T>G | p.T63= | Synonymous | 1/28 | - | 1 |
7-11871384-A-G | c.189T>C | p.T63= | Synonymous | 1/28 | - | 1 |
7-11871384-A-T | c.189T>A | p.T63= | Synonymous | 1/28 | - | 1 |
7-11871390-C-T | c.183G>A | p.W61* | Nonsense | 1/28 | - | 1 |
7-11871391-C-T | c.182G>A | p.W61* | Nonsense | 1/28 | - | 1 |
7-11871392-A-G | c.181T>C | p.W61R | Missense | 1/28 | - | 1 |
7-11871394-A-G | c.179T>C | p.L60P | Missense | 1/28 | - | 1 |
7-11871397-T-C | c.176A>G | p.Y59C | Missense | 1/28 | - | 1 |
7-11871399-GAG-CAT | c.172_174delinsATG | p.L58M | Missense | 1/28 | - | 1 |
7-11871403-G-A | c.170C>T | p.T57I | Missense | 1/28 | - | 1 |
7-11871405-G-A | c.168C>T | p.P56= | Synonymous | 1/28 | - | 1 |
7-11871406-G-A | c.167C>T | p.P56L | Missense | 1/28 | - | 1 |
7-11871406-G-C | c.167C>G | p.P56R | Missense | 1/28 | - | 5 |
7-11871407-G-T | c.166C>A | p.P56T | Missense | 1/28 | - | 1 |
7-11871408-C-G | c.165G>C | p.A55= | Synonymous | 1/28 | - | 1 |
7-11871412-T-C | c.161A>G | p.E54G | Missense | 1/28 | - | 1 |
7-11871414-CGC-GAT | c.157_159delinsATC | p.A53I | Missense | 1/28 | - | 1 |
7-11871416-C-T | c.157G>A | p.A53T | Missense | 1/28 | - | 1 |
7-11871417-C-A | c.156G>T | p.E52D | Missense | 1/28 | - | 3 |
7-11871417-C-G | c.156G>C | p.E52D | Missense | 1/28 | - | 2 |
7-11871419-C-T | c.154G>A | p.E52K | Missense | 1/28 | - | 1 |
7-11871424-T-C | c.149A>G | p.Q50R | Missense | 1/28 | - | 1 |
7-11871426-C-A | c.147G>T | p.A49= | Synonymous | 1/28 | - | 1 |
7-11871426-C-G | c.147G>C | p.A49= | Synonymous | 1/28 | - | 1 |
7-11871426-CGC-ATA | c.145_147delinsTAT | p.A49Y | Missense | 1/28 | - | 1 |
7-11871426-C-T | c.147G>A | p.A49= | Synonymous | 1/28 | - | 1 |
7-11871427-G-A | c.146C>T | p.A49V | Missense | 1/28 | - | 1 |
7-11871427-G-C | c.146C>G | p.A49G | Missense | 1/28 | - | 1 |
7-11871427-GC-CA | c.145_146delinsTG | p.A49W | Missense | 1/28 | - | 1 |
7-11871428-C-G | c.145G>C | p.A49P | Missense | 1/28 | - | 1 |
7-11871428-C-T | c.145G>A | p.A49T | Missense | 1/28 | - | 1 |
7-11871430-G-A | c.143C>T | p.A48V | Missense | 1/28 | - | 1 |
7-11871431-C-T | c.142G>A | p.A48T | Missense | 1/28 | - | 1 |
7-11871434-C-A | c.139G>T | p.A47S | Missense | 1/28 | - | 1 |
7-11871429-CGCAGCCCTGCCGGCGCCCGGGCGTA-C | c.119_143del | p.L40Rfs*88 | Frameshift | 1/28 | - | 1 |
7-11871437-T-A | c.136A>T | p.R46W | Missense | 1/28 | - | 2 |
7-11871439-C-G | c.134G>C | p.G45A | Missense | 1/28 | - | 1 |
7-11871440-C-T | c.133G>A | p.G45S | Missense | 1/28 | - | 1 |
7-11871442-GC-CG | c.130_131delinsCG | p.A44R | Missense | 1/28 | - | 2 |
7-11871448-G-A | c.125C>T | p.P42L | Missense | 1/28 | - | 2 |
7-11871451-C-T | c.122G>A | p.R41H | Missense | 1/28 | - | 2 |
7-11871458-G-A | c.115C>T | p.L39= | Synonymous | 1/28 | - | 1 |
7-11871464-G-T | c.109C>A | p.L37M | Missense | 1/28 | - | 1 |
7-11871467-G-GGGCAGC | c.105_106insGCTGCC | p.L35_L36insAA | InFrameInsertion | 1/28 | - | 1 |
7-11871469-A-G | c.104T>C | p.L35P | Missense | 1/28 | - | 1 |
7-11871469-A-AGAAGAG | c.103_104insCTCTTC | p.P33_L34dup | InFrameInsertion | 1/28 | - | 2 |
7-11871469-A-AGAAGAGGAAGAG | c.103_104insCTCTTCCTCTTC | p.P31_L34dup | InFrameInsertion | 1/28 | - | 1 |
7-11871471-C-G | c.102G>C | p.L34= | Synonymous | 1/28 | - | 1 |
7-11871468-GAGC-G | c.102_104del | p.L40del | InFrameDeletion | 1/28 | - | 1 |
7-11871472-A-G | c.101T>C | p.L34P | Missense | 1/28 | - | 1 |
7-11871475-G-A | c.98C>T | p.P33L | Missense | 1/28 | - | 1 |
7-11871477-C-T | c.96G>A | p.L32= | Synonymous | 1/28 | - | 1 |
7-11871480-C-A | c.93G>T | p.P31= | Synonymous | 1/28 | - | 1 |
7-11871480-C-G | c.93G>C | p.P31= | Synonymous | 1/28 | - | 1 |
7-11871480-C-T | c.93G>A | p.P31= | Synonymous | 1/28 | - | 1 |
7-11871481-G-A | c.92C>T | p.P31L | Missense | 1/28 | - | 1 |
7-11871481-GGCA-G | c.89_91del | p.L30del | InFrameDeletion | 1/28 | - | 1 |
7-11871484-A-G | c.89T>C | p.L30P | Missense | 1/28 | - | 1 |
7-11871469-AGCAGCGGCAGCG-A | c.92_103del | p.P31_L34del | InFrameDeletion | 1/28 | - | 7 |
7-11871487-G-A | c.86C>T | p.P29L | Missense | 1/28 | - | 1 |
7-11871488-G-A | c.85C>T | p.P29S | Missense | 1/28 | - | 1 |
7-11871493-G-A | c.80C>T | p.P27L | Missense | 1/28 | - | 1 |
7-11871496-A-T | c.77T>A | p.L26Q | Missense | 1/28 | - | 1 |
7-11871497-G-GGGCAGC | c.75_76insGCTGCC | p.L25_L26insAA | InFrameInsertion | 1/28 | - | 1 |
7-11871499-A-G | c.74T>C | p.L25P | Missense | 1/28 | - | 1 |
7-11871502-T-A | c.71A>T | p.Q24L | Missense | 1/28 | - | 1 |
7-11871502-T-G | c.71A>C | p.Q24P | Missense | 1/28 | - | 1 |
7-11871503-G-T | c.70C>A | p.Q24K | Missense | 1/28 | - | 1 |
7-11871513-C-T | c.60G>A | p.R20= | Synonymous | 1/28 | - | 1 |
7-11871514-C-A | c.59G>T | p.R20L | Missense | 1/28 | - | 1 |
7-11871514-C-G | c.59G>C | p.R20P | Missense | 1/28 | - | 1 |
7-11871514-C-T | c.59G>A | p.R20Q | Missense | 1/28 | - | 1 |
7-11871516-GCG-CCA | c.55_57delinsTGG | p.R19W | Missense | 1/28 | - | 1 |
7-11871521-G-T | c.52C>A | p.P18T | Missense | 1/28 | - | 1 |
7-11871522-C-G | c.51G>C | p.G17= | Synonymous | 1/28 | - | 1 |
7-11871522-C-T | c.51G>A | p.G17= | Synonymous | 1/28 | - | 1 |
7-11871523-C-A | c.50G>T | p.G17V | Missense | 1/28 | - | 1 |
7-11871523-CC-TA | c.49_50delinsTA | p.G17* | Nonsense | 1/28 | - | 1 |
7-11871523-C-T | c.50G>A | p.G17E | Missense | 1/28 | - | 1 |
7-11871525-CGC-AAA | c.46_48delinsTTT | p.A16F | Missense | 1/28 | - | 1 |
7-11871525-CGC-ATA | c.46_48delinsTAT | p.A16Y | Missense | 1/28 | - | 1 |
7-11871526-G-A | c.47C>T | p.A16V | Missense | 1/28 | - | 2 |
7-11871526-GC-TA | c.46_47delinsTA | p.A16* | Nonsense | 1/28 | - | 2 |
7-11871526-G-T | c.47C>A | p.A16E | Missense | 1/28 | - | 1 |
7-11871528-A-C | c.45T>G | p.A15= | Synonymous | 1/28 | - | 1 |
7-11871528-A-G | c.45T>C | p.A15= | Synonymous | 1/28 | - | 1 |
7-11871528-AGC-CAT | c.43_45delinsATG | p.A15M | Missense | 1/28 | - | 1 |
7-11871528-AGC-TTA | c.43_45delinsTAA | p.A15* | Nonsense | 1/28 | - | 1 |
7-11871528-A-T | c.45T>A | p.A15= | Synonymous | 1/28 | - | 1 |
7-11871529-GC-CA | c.43_44delinsTG | p.A15C | Missense | 1/28 | - | 1 |
7-11871530-C-G | c.43G>C | p.A15P | Missense | 1/28 | - | 1 |
7-11871533-C-G | c.40G>C | p.G14R | Missense | 1/28 | - | 1 |
7-11871535-C-G | c.38G>C | p.R13P | Missense | 1/28 | - | 1 |
7-11871535-C-T | c.38G>A | p.R13Q | Missense | 1/28 | - | 2 |
7-11871538-C-A | c.35G>T | p.S12I | Missense | 1/28 | - | 2 |
7-11871539-T-A | c.34A>T | p.S12C | Missense | 1/28 | - | 1 |
7-11871544-G-A | c.29C>T | p.S10F | Missense | 1/28 | - | 1 |
7-11871546-C-A | c.27G>T | p.A9= | Synonymous | 1/28 | - | 1 |
7-11871546-C-G | c.27G>C | p.A9= | Synonymous | 1/28 | - | 1 |
7-11871546-C-T | c.27G>A | p.A9= | Synonymous | 1/28 | - | 1 |
7-11871547-G-A | c.26C>T | p.A9V | Missense | 1/28 | - | 1 |
7-11871550-C-G | c.23G>C | p.W8S | Missense | 1/28 | - | 1 |
7-11871551-A-G | c.22T>C | p.W8R | Missense | 1/28 | - | 1 |
7-11871553-C-T | c.20G>A | p.R7H | Missense | 1/28 | - | 1 |
7-11871554-G-A | c.19C>T | p.R7C | Missense | 1/28 | - | 1 |
7-11871571-A-AT | c.1dup | p.M1Nfs*? | CdsStartInsertion | 1/28 | - | 1 |
7-11871787-G-A | c.-215C>T | - | 5-UTRSNV | 1/28 | - | 13 |