THSD7A

THSD7A thrombospondin type 1 domain containing 7A

Annotation transcript: NM_015204.3

2480 unique variant annotations were identified in 752 publications

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