18-3066944-T-C |
c.*316A>G |
- |
3-UTRSNV |
38/38 |
- |
3 |
18-3067272-C-CT |
c.5045dup |
p.K1683Efs*16 |
Frameshift |
38/38 |
- |
1 |
18-3067278-A-C |
c.5040T>G |
p.G1680= |
Synonymous |
38/38 |
- |
1 |
18-3067278-A-G |
c.5040T>C |
p.G1680= |
Synonymous |
38/38 |
- |
18 |
18-3067278-A-T |
c.5040T>A |
p.G1680= |
Synonymous |
38/38 |
- |
12 |
18-3067283-T-C |
c.5035A>G |
p.K1679E |
Missense |
38/38 |
- |
1 |
18-3067287-G-A |
c.5031C>T |
p.S1677= |
Synonymous |
38/38 |
- |
1 |
18-3067287-G-C |
c.5031C>G |
p.S1677= |
Synonymous |
38/38 |
- |
1 |
18-3067287-G-T |
c.5031C>A |
p.S1677= |
Synonymous |
38/38 |
- |
3 |
18-3067290-C-T |
c.5028G>A |
p.E1676= |
Synonymous |
38/38 |
- |
1 |
18-3067291-T-G |
c.5027A>C |
p.E1676A |
Missense |
38/38 |
- |
3 |
18-3067289-ACTCCAAGGCGGCCATCCTCGC-A |
c.5008_5028del |
p.A1670_E1676del |
InFrameDeletion |
38/38 |
- |
1 |
18-3067299-G-A |
c.5019C>T |
p.A1673= |
Synonymous |
38/38 |
- |
1 |
18-3067299-G-C |
c.5019C>G |
p.A1673= |
Synonymous |
38/38 |
- |
1 |
18-3067299-G-T |
c.5019C>A |
p.A1673= |
Synonymous |
38/38 |
- |
1 |
18-3067309-G-A |
c.5009C>T |
p.A1670V |
Missense |
38/38 |
- |
4 |
18-3067313-C-T |
c.5005G>A |
p.E1669K |
Missense |
38/38 |
- |
1 |
18-3067314-C-A |
c.5004G>T |
p.E1668D |
Missense |
38/38 |
- |
1 |
18-3067314-C-T |
c.5004G>A |
p.E1668= |
Synonymous |
38/38 |
- |
3 |
18-3067316-C-T |
c.5002G>A |
p.E1668K |
Missense |
38/38 |
- |
2 |
18-3067317-C-T |
c.5001G>A |
p.E1667= |
Synonymous |
38/38 |
- |
3 |
18-3067321-G-T |
c.4997C>A |
p.P1666Q |
Missense |
38/38 |
- |
1 |
18-3067323-G-A |
c.4995C>T |
p.I1665= |
Synonymous |
38/38 |
- |
2 |
18-3067326-G-A |
c.4992C>T |
p.F1664= |
Synonymous |
38/38 |
- |
1 |
18-3067329-C-T |
c.4989G>A |
p.V1663= |
Synonymous |
38/38 |
- |
1 |
18-3067331-C-T |
c.4987G>A |
p.V1663M |
Missense |
38/38 |
- |
9 |
18-3067333-C-T |
c.4985G>A |
p.S1662N |
Missense |
38/38 |
- |
1 |
18-3067350-G-A |
c.4968C>T |
p.T1656= |
Synonymous |
38/38 |
- |
1 |
18-3067351-G-A |
c.4967C>T |
p.T1656I |
Missense |
38/38 |
- |
1 |
18-3067355-C-A |
c.4963G>T |
p.E1655* |
Nonsense |
38/38 |
- |
1 |
18-3067355-C-T |
c.4963G>A |
p.E1655K |
Missense |
38/38 |
- |
1 |
18-3067356-C-A |
c.4962G>T |
p.S1654= |
Synonymous |
38/38 |
- |
1 |
18-3067356-C-G |
c.4962G>C |
p.S1654= |
Synonymous |
38/38 |
- |
1 |
18-3067356-C-T |
c.4962G>A |
p.S1654= |
Synonymous |
38/38 |
- |
1 |
18-3067357-G-A |
c.4961C>T |
p.S1654L |
Missense |
38/38 |
- |
3 |
18-3067360-C-G |
c.4958G>C |
p.G1653A |
Missense |
38/38 |
- |
1 |
18-3067361-C-T |
c.4957G>A |
p.G1653S |
Missense |
38/38 |
- |
1 |
18-3067362-A-G |
c.4956T>C |
p.Y1652= |
Synonymous |
38/38 |
- |
1 |
18-3067365-C-A |
c.4953G>T |
p.K1651N |
Missense |
38/38 |
- |
1 |
18-3067365-C-G |
c.4953G>C |
p.K1651N |
Missense |
38/38 |
- |
1 |
18-3067369-T-C |
c.4949A>G |
p.N1650S |
Missense |
38/38 |
- |
2 |
18-3067371-C-T |
c.4947G>A |
p.K1649= |
Synonymous |
38/38 |
- |
1 |
18-3067381-A-G |
c.4937T>C |
p.L1646P |
Missense |
38/38 |
- |
1 |
18-3067385-C-T |
c.4933G>A |
p.G1645R |
Missense |
38/38 |
- |
2 |
18-3067386-G-A |
c.4932C>T |
p.Y1644= |
Synonymous |
38/38 |
- |
1 |
18-3067390-T-C |
c.4928A>G |
p.K1643R |
Missense |
38/38 |
- |
2 |
18-3067394-C-A |
c.4924G>T |
p.G1642C |
Missense |
38/38 |
- |
1 |
18-3067396-G-A |
c.4922C>T |
p.S1641L |
Missense |
38/38 |
- |
8 |
18-3067403-C-T |
c.4915G>A |
p.A1639T |
Missense |
38/38 |
- |
2 |
18-3067404-G-A |
c.4914C>T |
p.T1638= |
Synonymous |
38/38 |
- |
1 |
18-3067404-G-C |
c.4914C>G |
p.T1638= |
Synonymous |
38/38 |
- |
1 |
18-3067404-G-T |
c.4914C>A |
p.T1638= |
Synonymous |
38/38 |
- |
1 |
18-3067412-C-T |
c.4906G>A |
p.V1636M |
Missense |
38/38 |
- |
6 |
18-3067413-G-A |
c.4905C>T |
p.G1635= |
Synonymous |
38/38 |
- |
2 |
18-3067413-G-C |
c.4905C>G |
p.G1635= |
Synonymous |
38/38 |
- |
1 |
18-3067413-G-T |
c.4905C>A |
p.G1635= |
Synonymous |
38/38 |
- |
1 |
18-3067414-C-A |
c.4904G>T |
p.G1635V |
Missense |
38/38 |
- |
1 |
18-3067414-C-T |
c.4904G>A |
p.G1635D |
Missense |
38/38 |
- |
2 |
18-3067415-C-T |
c.4903G>A |
p.G1635S |
Missense |
38/38 |
- |
5 |
18-3067416-G-A |
c.4902C>T |
p.N1634= |
Synonymous |
38/38 |
- |
1 |
18-3067419-G-A |
c.4899C>T |
p.I1633= |
Synonymous |
38/38 |
- |
1 |
18-3067419-G-T |
c.4899C>A |
p.I1633= |
Synonymous |
38/38 |
- |
1 |
18-3067422-G-A |
c.4896C>T |
p.T1632= |
Synonymous |
38/38 |
- |
1 |
18-3067423-G-C |
c.4895C>G |
p.T1632S |
Missense |
38/38 |
- |
1 |
18-3067424-T-A |
c.4894A>T |
p.T1632S |
Missense |
38/38 |
- |
2 |
18-3067431-C-A |
c.4887G>T |
p.A1629= |
Synonymous |
38/38 |
- |
1 |
18-3067431-C-G |
c.4887G>C |
p.A1629= |
Synonymous |
38/38 |
- |
1 |
18-3067431-C-T |
c.4887G>A |
p.A1629= |
Synonymous |
38/38 |
- |
1 |
18-3067437-CCT-ACA |
c.4879_4881delinsTGT |
p.R1627C |
Missense |
38/38 |
- |
1 |
18-3067438-C-T |
c.4880G>A |
p.R1627K |
Missense |
38/38 |
- |
1 |
18-3067442-C-A |
c.4876G>T |
p.G1626W |
Missense |
38/38 |
- |
1 |
18-3067448-C-T |
c.4870G>A |
p.E1624K |
Missense |
38/38 |
- |
1 |
18-3067449-G-A |
c.4869C>T |
p.F1623= |
Synonymous |
38/38 |
- |
4 |
18-3067449-G-C |
c.4869C>G |
p.F1623L |
Missense |
38/38 |
- |
1 |
18-3067449-G-T |
c.4869C>A |
p.F1623L |
Missense |
38/38 |
- |
1 |
18-3067451-A-G |
c.4867T>C |
p.F1623L |
Missense |
38/38 |
- |
1 |
18-3067462-C-A |
c.4856G>T |
p.C1619F |
Missense |
38/38 |
- |
1 |
18-3067467-G-C |
c.4851C>G |
p.D1617E |
Missense |
38/38 |
- |
5 |
18-3067467-G-T |
c.4851C>A |
p.D1617E |
Missense |
38/38 |
- |
4 |
18-3067468-T-C |
c.4850A>G |
p.D1617G |
Missense |
38/38 |
- |
4 |
18-3067469-C-T |
c.4849G>A |
p.D1617N |
Missense |
38/38 |
- |
5 |
18-3067474-G-A |
c.4844C>T |
p.S1615L |
Missense |
38/38 |
- |
2 |
18-3067474-G-C |
c.4844C>G |
p.S1615* |
Nonsense |
38/38 |
- |
1 |
18-3067475-A-G |
c.4843T>C |
p.S1615P |
Missense |
38/38 |
- |
1 |
18-3067484-C-T |
c.4834G>A |
p.A1612T |
Missense |
38/38 |
- |
1 |
18-3067485-C-A |
c.4833G>T |
p.K1611N |
Missense |
38/38 |
- |
1 |
18-3067485-C-G |
c.4833G>C |
p.K1611N |
Missense |
38/38 |
- |
1 |
18-3067487-T-A |
c.4831A>T |
p.K1611* |
Nonsense |
38/38 |
- |
1 |
18-3067490-C-T |
c.4828G>A |
p.E1610K |
Missense |
38/38 |
- |
2 |
18-3067491-G-A |
c.4827C>T |
p.N1609= |
Synonymous |
38/38 |
- |
3 |
18-3067492-GTTCTTCA-G |
c.4820_4826del |
p.L1607Sfs*28 |
Frameshift |
38/38 |
- |
1 |
18-3067496-T-C |
c.4822A>G |
p.K1608E |
Missense |
38/38 |
- |
1 |
18-3067497-C-T |
c.4821G>A |
p.L1607= |
Synonymous |
38/38 |
- |
1 |
18-3067499-A-G |
c.4819T>C |
p.L1607= |
Synonymous |
38/38 |
- |
1 |
18-3067504-G-A |
c.4814C>T |
p.S1605L |
Missense |
38/38 |
- |
2 |
18-3067506-C-T |
c.4812G>A |
p.V1604= |
Synonymous |
38/38 |
- |
1 |
18-3067513-G-A |
c.4805C>T |
p.P1602L |
Missense |
38/38 |
- |
1 |
18-3067517-G-A |
c.4801C>T |
p.P1601S |
Missense |
38/38 |
- |
1 |
18-3067519-G-A |
c.4799C>T |
p.P1600L |
Missense |
38/38 |
- |
2 |
18-3067520-G-A |
c.4798C>T |
p.P1600S |
Missense |
38/38 |
- |
1 |
18-3067521-G-A |
c.4797C>T |
p.D1599= |
Synonymous |
38/38 |
- |
1 |
18-3067523-C-T |
c.4795G>A |
p.D1599N |
Missense |
38/38 |
- |
1 |
18-3067525-C-G |
c.4793G>C |
p.G1598A |
Missense |
38/38 |
- |
1 |
18-3067525-C-T |
c.4793G>A |
p.G1598E |
Missense |
38/38 |
- |
3 |
18-3067526-C-T |
c.4792G>A |
p.G1598R |
Missense |
38/38 |
- |
2 |
18-3067533-G-A |
c.4785C>T |
p.N1595= |
Synonymous |
38/38 |
- |
3 |
18-3067537-C-T |
c.4781G>A |
p.C1594Y |
Missense |
38/38 |
- |
1 |
18-3067542-G-C |
c.4776C>G |
p.L1592= |
Synonymous |
38/38 |
- |
1 |
18-3067552-G-C |
c.4766C>G |
p.A1589G |
Missense |
38/38 |
- |
1 |
18-3067556-G-A |
c.4765-3C>T |
- |
IntronicSNV |
- |
37/37 |
1 |
18-3067599-A-G |
c.4765-46T>C |
- |
IntronicSNV |
- |
37/37 |
1 |
18-3067733-G-C |
c.4765-180C>G |
- |
IntronicSNV |
- |
37/37 |
1 |
18-3067753-C-T |
c.4765-200G>A |
- |
IntronicSNV |
- |
37/37 |
1 |
18-3071085-G-T |
c.4764+747C>A |
- |
IntronicSNV |
- |
37/37 |
1 |
18-3071101-G-GA |
c.4764+730dup |
- |
IntronicInsertion |
- |
37/37 |
1 |
18-3071832-C-T |
c.4764G>A |
p.K1588= |
Synonymous |
37/38 |
- |
1 |
18-3071833-T-G |
c.4763A>C |
p.K1588T |
Missense |
37/38 |
- |
1 |
18-3071837-C-T |
c.4759G>A |
p.G1587R |
Missense |
37/38 |
- |
2 |
18-3071838-C-T |
c.4758G>A |
p.E1586= |
Synonymous |
37/38 |
- |
2 |
18-3071840-C-T |
c.4756G>A |
p.E1586K |
Missense |
37/38 |
- |
2 |
18-3071856-G-A |
c.4740C>T |
p.D1580= |
Synonymous |
37/38 |
- |
1 |
18-3071862-G-A |
c.4734C>T |
p.L1578= |
Synonymous |
37/38 |
- |
2 |
18-3071869-C-T |
c.4727G>A |
p.G1576E |
Missense |
37/38 |
- |
4 |
18-3071871-C-T |
c.4725G>A |
p.L1575= |
Synonymous |
37/38 |
- |
3 |
18-3071873-A-G |
c.4723T>C |
p.L1575= |
Synonymous |
37/38 |
- |
2 |
18-3071876-C-G |
c.4720G>C |
p.V1574L |
Missense |
37/38 |
- |
1 |
18-3071878-C-G |
c.4718G>C |
p.R1573P |
Missense |
37/38 |
- |
2 |
18-3071878-C-T |
c.4718G>A |
p.R1573Q |
Missense |
37/38 |
- |
6 |
18-3071879-G-A |
c.4717C>T |
p.R1573W |
Missense |
37/38 |
- |
3 |
18-3071885-G-A |
c.4711C>T |
p.R1571C |
Missense |
37/38 |
- |
5 |
18-3072153-G-A |
c.4709-266C>T |
- |
IntronicSNV |
- |
36/37 |
1 |
18-3075204-C-A |
c.4708+248G>T |
- |
IntronicSNV |
- |
36/37 |
1 |
18-3075209-T-C |
c.4708+243A>G |
- |
IntronicSNV |
- |
36/37 |
1 |
18-3075257-G-A |
c.4708+195C>T |
- |
IntronicSNV |
- |
36/37 |
1 |
18-3075432-TA-T |
c.4708+19del |
- |
IntronicDeletion |
- |
36/37 |
1 |
18-3075447-C-T |
c.4708+5G>A |
- |
IntronicSNV |
- |
36/37 |
2 |
18-3075458-C-T |
c.4702G>A |
p.E1568K |
Missense |
36/38 |
- |
1 |
18-3075466-G-T |
c.4694C>A |
p.A1565D |
Missense |
36/38 |
- |
1 |
18-3075469-G-A |
c.4691C>T |
p.A1564V |
Missense |
36/38 |
- |
1 |
18-3075503-C-A |
c.4686-29G>T |
- |
IntronicSNV |
- |
35/37 |
1 |
18-3075503-C-CA |
c.4686-30_4686-29insT |
- |
IntronicInsertion |
- |
35/37 |
7 |
18-3075503-C-CAAA |
c.4686-30_4686-29insTTT |
- |
IntronicInsertion |
- |
35/37 |
7 |
18-3075503-C-CAAAA |
c.4686-30_4686-29insTTTT |
- |
IntronicInsertion |
- |
35/37 |
7 |
18-3075503-C-CAAAGAAGAATTTTGTGTTAGTGTTACTTCAAA |
c.4686-30_4686-29insTTTGAAGTAACACTAACACAAAATTCTTCTTT |
- |
IntronicInsertion |
- |
35/37 |
7 |
18-3075554-T-C |
c.4686-80A>G |
- |
IntronicSNV |
- |
35/37 |
7 |
18-3075712-C-A |
c.4685+11G>T |
- |
IntronicSNV |
- |
35/37 |
9 |
18-3075712-C-T |
c.4685+11G>A |
- |
IntronicSNV |
- |
35/37 |
5 |
18-3075729-CT-GG |
c.4678_4679delinsCC |
p.R1560P |
Missense |
35/38 |
- |
1 |
18-3075734-G-C |
c.4674C>G |
p.F1558L |
Missense |
35/38 |
- |
1 |
18-3075734-G-T |
c.4674C>A |
p.F1558L |
Missense |
35/38 |
- |
1 |
18-3075736-A-G |
c.4672T>C |
p.F1558L |
Missense |
35/38 |
- |
1 |
18-3075746-G-A |
c.4662C>T |
p.A1554= |
Synonymous |
35/38 |
- |
10 |
18-3075746-G-C |
c.4662C>G |
p.A1554= |
Synonymous |
35/38 |
- |
3 |
18-3075746-G-T |
c.4662C>A |
p.A1554= |
Synonymous |
35/38 |
- |
3 |
18-3075747-G-A |
c.4661C>T |
p.A1554V |
Missense |
35/38 |
- |
1 |
18-3075751-C-G |
c.4657G>C |
p.E1553Q |
Missense |
35/38 |
- |
1 |
18-3075754-C-T |
c.4654G>A |
p.D1552N |
Missense |
35/38 |
- |
7 |
18-3075756-TA-GG |
c.4651_4652delinsCC |
p.Y1551P |
Missense |
35/38 |
- |
1 |
18-3075778-A-C |
c.4649-19T>G |
- |
IntronicSNV |
- |
34/37 |
2 |
18-3075838-G-A |
c.4649-79C>T |
- |
IntronicSNV |
- |
34/37 |
1 |
18-3079182-C-T |
c.4643G>A |
p.G1548E |
Missense |
34/38 |
- |
1 |
18-3079183-C-T |
c.4642G>A |
p.G1548R |
Missense |
34/38 |
- |
2 |
18-3079184-A-G |
c.4641T>C |
p.S1547= |
Synonymous |
34/38 |
- |
1 |
18-3079189-G-A |
c.4636C>T |
p.L1546F |
Missense |
34/38 |
- |
1 |
18-3079192-C-T |
c.4633G>A |
p.D1545N |
Missense |
34/38 |
- |
1 |
18-3079200-T-C |
c.4625A>G |
p.K1542R |
Missense |
34/38 |
- |
1 |
18-3079204-G-A |
c.4621C>T |
p.Q1541* |
Nonsense |
34/38 |
- |
1 |
18-3079208-TCC-GCT |
c.4615_4617delinsAGC |
p.G1539S |
Missense |
34/38 |
- |
3 |
18-3079208-TC-GT |
c.4616_4617delinsAC |
p.G1539D |
Missense |
34/38 |
- |
1 |
18-3079209-C-T |
c.4616G>A |
p.G1539E |
Missense |
34/38 |
- |
1 |
18-3079219-C-A |
c.4606G>T |
p.G1536C |
Missense |
34/38 |
- |
1 |
18-3079224-A-G |
c.4601T>C |
p.F1534S |
Missense |
34/38 |
- |
3 |
18-3079230-T-C |
c.4595A>G |
p.E1532G |
Missense |
34/38 |
- |
1 |
18-3079231-C-T |
c.4594G>A |
p.E1532K |
Missense |
34/38 |
- |
1 |
18-3079232-C-A |
c.4593G>T |
p.M1531I |
Missense |
34/38 |
- |
1 |
18-3079232-C-G |
c.4593G>C |
p.M1531I |
Missense |
34/38 |
- |
1 |
18-3079232-C-T |
c.4593G>A |
p.M1531I |
Missense |
34/38 |
- |
1 |
18-3079235-G-A |
c.4590C>T |
p.V1530= |
Synonymous |
34/38 |
- |
2 |
18-3079235-GAC-CAT |
c.4588_4590delinsATG |
p.V1530M |
Missense |
34/38 |
- |
1 |
18-3079245-C-A |
c.4580G>T |
p.G1527V |
Missense |
34/38 |
- |
3 |
18-3079252-C-A |
c.4573G>T |
p.D1525Y |
Missense |
34/38 |
- |
3 |
18-3079252-C-T |
c.4573G>A |
p.D1525N |
Missense |
34/38 |
- |
1 |
18-3079256-C-T |
c.4569G>A |
p.P1523= |
Synonymous |
34/38 |
- |
1 |
18-3079257-G-A |
c.4568C>T |
p.P1523L |
Missense |
34/38 |
- |
2 |
18-3079261-TG-T |
c.4563del |
p.T1522Pfs*40 |
Frameshift |
34/38 |
- |
1 |
18-3079264-G-C |
c.4561C>G |
p.P1521A |
Missense |
34/38 |
- |
3 |
18-3079267-C-T |
c.4558G>A |
p.E1520K |
Missense |
34/38 |
- |
3 |
18-3079268-G-A |
c.4557C>T |
p.N1519= |
Synonymous |
34/38 |
- |
5 |
18-3079268-G-C |
c.4557C>G |
p.N1519K |
Missense |
34/38 |
- |
1 |
18-3079268-G-T |
c.4557C>A |
p.N1519K |
Missense |
34/38 |
- |
3 |
18-3079279-AGCCAG-A |
c.4542_4546del |
p.W1515Tfs*9 |
Frameshift |
34/38 |
- |
1 |
18-3079302-C-T |
c.4523G>A |
p.G1508E |
Missense |
34/38 |
- |
1 |
18-3079303-C-A |
c.4522G>T |
p.G1508W |
Missense |
34/38 |
- |
3 |
18-3079304-G-T |
c.4521C>A |
p.T1507= |
Synonymous |
34/38 |
- |
1 |
18-3079307-C-T |
c.4518G>A |
p.K1506= |
Synonymous |
34/38 |
- |
1 |
18-3079308-T-C |
c.4517A>G |
p.K1506R |
Missense |
34/38 |
- |
1 |
18-3079312-CTCTG-C |
c.4509_4512del |
p.D1503Efs*58 |
Frameshift |
34/38 |
- |
1 |
18-3079317-T-G |
c.4508A>C |
p.D1503A |
Missense |
34/38 |
- |
1 |
18-3079318-C-G |
c.4507G>C |
p.D1503H |
Missense |
34/38 |
- |
1 |
18-3079329-A-G |
c.4496T>C |
p.I1499T |
Missense |
34/38 |
- |
1 |
18-3079334-G-A |
c.4491C>T |
p.S1497= |
Synonymous |
34/38 |
- |
2 |
18-3079334-G-C |
c.4491C>G |
p.S1497= |
Synonymous |
34/38 |
- |
1 |
18-3079334-G-T |
c.4491C>A |
p.S1497= |
Synonymous |
34/38 |
- |
2 |
18-3083664-G-A |
c.4484+123C>T |
- |
IntronicSNV |
- |
33/37 |
1 |
18-3083787-T-A |
c.4484A>T |
p.N1495I |
Missense |
33/38 |
- |
3 |
18-3083798-G-A |
c.4473C>T |
p.N1491= |
Synonymous |
33/38 |
- |
1 |
18-3083803-C-T |
c.4468G>A |
p.V1490I |
Missense |
33/38 |
- |
6 |
18-3083808-A-C |
c.4463T>G |
p.L1488W |
Missense |
33/38 |
- |
1 |
18-3083821-A-G |
c.4450T>C |
p.Y1484H |
Missense |
33/38 |
- |
1 |
18-3083823-T-C |
c.4448A>G |
p.Y1483C |
Missense |
33/38 |
- |
1 |
18-3083845-G-T |
c.4426C>A |
p.Q1476K |
Missense |
33/38 |
- |
1 |
18-3083850-C-T |
c.4421G>A |
p.G1474D |
Missense |
33/38 |
- |
1 |
18-3083852-C-A |
c.4419G>T |
p.E1473D |
Missense |
33/38 |
- |
1 |
18-3083852-C-G |
c.4419G>C |
p.E1473D |
Missense |
33/38 |
- |
1 |
18-3083854-C-A |
c.4417G>T |
p.E1473* |
Nonsense |
33/38 |
- |
1 |
18-3083854-C-T |
c.4417G>A |
p.E1473K |
Missense |
33/38 |
- |
3 |
18-3083873-C-A |
c.4398G>T |
p.L1466= |
Synonymous |
33/38 |
- |
1 |
18-3083878-C-CA |
c.4392_4393insT |
p.D1465* |
Nonsense |
33/38 |
- |
1 |
18-3083881-T-G |
c.4390A>C |
p.T1464P |
Missense |
33/38 |
- |
1 |
18-3083882-A-C |
c.4389T>G |
p.A1463= |
Synonymous |
33/38 |
- |
3 |
18-3083882-A-G |
c.4389T>C |
p.A1463= |
Synonymous |
33/38 |
- |
2 |
18-3083882-A-T |
c.4389T>A |
p.A1463= |
Synonymous |
33/38 |
- |
2 |
18-3083884-C-G |
c.4387G>C |
p.A1463P |
Missense |
33/38 |
- |
1 |
18-3083886-G-T |
c.4385C>A |
p.S1462Y |
Missense |
33/38 |
- |
1 |
18-3083989-AT-TA |
c.4375_4376delinsTA |
p.I1459* |
Nonsense |
32/38 |
- |
2 |
18-3083990-T-TTA |
c.4374_4375insTA |
p.I1459* |
Nonsense |
32/38 |
- |
1 |
18-3083994-T-C |
c.4371A>G |
p.K1457= |
Synonymous |
32/38 |
- |
1 |
18-3083995-TT-GG |
c.4369_4370delinsCC |
p.K1457P |
Missense |
32/38 |
- |
1 |
18-3083989-A-AT |
c.4375dup |
p.I1459Nfs*33 |
Frameshift |
32/38 |
- |
4 |
18-3083989-AT-A |
c.4375del |
p.I1459* |
Frameshift |
32/38 |
- |
2 |
18-3084001-A-G |
c.4364T>C |
p.V1455A |
Missense |
32/38 |
- |
1 |
18-3084007-A-G |
c.4358T>C |
p.M1453T |
Missense |
32/38 |
- |
5 |
18-3084014-G-C |
c.4351C>G |
p.L1451V |
Missense |
32/38 |
- |
2 |
18-3084016-T-C |
c.4349A>G |
p.E1450G |
Missense |
32/38 |
- |
1 |
18-3084017-C-T |
c.4348G>A |
p.E1450K |
Missense |
32/38 |
- |
3 |
18-3084018-C-G |
c.4347G>C |
p.K1449N |
Missense |
32/38 |
- |
1 |
18-3084019-T-A |
c.4346A>T |
p.K1449M |
Missense |
32/38 |
- |
2 |
18-3084020-T-C |
c.4345A>G |
p.K1449E |
Missense |
32/38 |
- |
1 |
18-3084024-G-A |
c.4341C>T |
p.A1447= |
Synonymous |
32/38 |
- |
3 |
18-3084024-G-C |
c.4341C>G |
p.A1447= |
Synonymous |
32/38 |
- |
2 |
18-3084024-G-T |
c.4341C>A |
p.A1447= |
Synonymous |
32/38 |
- |
2 |
18-3084152-C-T |
c.4340-127G>A |
- |
IntronicSNV |
- |
31/37 |
6 |
18-3084253-C-A |
c.4340-228G>T |
- |
IntronicSNV |
- |
31/37 |
2 |
18-3084253-C-T |
c.4340-228G>A |
- |
IntronicSNV |
- |
31/37 |
2 |
18-3084937-CA-C |
c.4339+105del |
- |
IntronicDeletion |
- |
31/37 |
1 |
18-3085050-C-A |
c.4332G>T |
p.V1444= |
Synonymous |
31/38 |
- |
2 |
18-3085050-C-G |
c.4332G>C |
p.V1444= |
Synonymous |
31/38 |
- |
2 |
18-3085050-C-T |
c.4332G>A |
p.V1444= |
Synonymous |
31/38 |
- |
2 |
18-3085055-G-T |
c.4327C>A |
p.L1443I |
Missense |
31/38 |
- |
1 |
18-3085060-A-G |
c.4322T>C |
p.L1441P |
Missense |
31/38 |
- |
1 |
18-3085063-C-G |
c.4319G>C |
p.R1440T |
Missense |
31/38 |
- |
1 |
18-3085065-G-C |
c.4317C>G |
p.S1439R |
Missense |
31/38 |
- |
1 |
18-3085065-G-T |
c.4317C>A |
p.S1439R |
Missense |
31/38 |
- |
1 |
18-3085067-T-G |
c.4315A>C |
p.S1439R |
Missense |
31/38 |
- |
1 |
18-3085066-C-T |
c.4316G>A |
p.S1439N |
Missense |
31/38 |
- |
1 |
18-3085081-C-T |
c.4301G>A |
p.R1434Q |
Missense |
31/38 |
- |
5 |
18-3085086-ATC-A |
c.4294_4295del |
p.D1432* |
Frameshift |
31/38 |
- |
1 |
18-3085096-A-C |
c.4286T>G |
p.I1429S |
Missense |
31/38 |
- |
2 |
18-3085102-T-G |
c.4280A>C |
p.E1427A |
Missense |
31/38 |
- |
1 |
18-3085111-C-T |
c.4271G>A |
p.G1424E |
Missense |
31/38 |
- |
4 |
18-3085112-C-T |
c.4270G>A |
p.G1424R |
Missense |
31/38 |
- |
1 |
18-3085119-T-C |
c.4263A>G |
p.K1421= |
Synonymous |
31/38 |
- |
2 |
18-3085124-TTGGAA-T |
c.4254_4258del |
p.F1418Lfs*8 |
Frameshift |
31/38 |
- |
1 |
18-3085125-G-A |
c.4257C>T |
p.S1419= |
Synonymous |
31/38 |
- |
1 |
18-3085192-T-G |
c.4252-62A>C |
- |
IntronicSNV |
- |
30/37 |
1 |
18-3086026-A-T |
c.4251+10T>A |
- |
IntronicSNV |
- |
30/37 |
1 |
18-3086042-T-A |
c.4245A>T |
p.I1415= |
Synonymous |
30/38 |
- |
1 |
18-3086042-T-G |
c.4245A>C |
p.I1415= |
Synonymous |
30/38 |
- |
1 |
18-3086044-T-C |
c.4243A>G |
p.I1415V |
Missense |
30/38 |
- |
1 |
18-3086048-C-A |
c.4239G>T |
p.L1413= |
Synonymous |
30/38 |
- |
1 |
18-3086048-C-G |
c.4239G>C |
p.L1413= |
Synonymous |
30/38 |
- |
1 |
18-3086048-C-T |
c.4239G>A |
p.L1413= |
Synonymous |
30/38 |
- |
1 |
18-3086050-G-A |
c.4237C>T |
p.L1413= |
Synonymous |
30/38 |
- |
1 |
18-3086052-G-C |
c.4235C>G |
p.T1412S |
Missense |
30/38 |
- |
1 |
18-3086053-T-A |
c.4234A>T |
p.T1412S |
Missense |
30/38 |
- |
1 |
18-3086058-A-AT |
c.4228dup |
p.I1410Nfs*18 |
Frameshift |
30/38 |
- |
2 |
18-3086065-C-T |
c.4222G>A |
p.D1408N |
Missense |
30/38 |
- |
17 |
18-3086067-T-G |
c.4220A>C |
p.K1407T |
Missense |
30/38 |
- |
1 |
18-3086069-A-T |
c.4218T>A |
p.F1406L |
Missense |
30/38 |
- |
1 |
18-3086080-T-G |
c.4207A>C |
p.K1403Q |
Missense |
30/38 |
- |
1 |
18-3086083-C-T |
c.4204G>A |
p.E1402K |
Missense |
30/38 |
- |
1 |
18-3086086-C-T |
c.4201G>A |
p.D1401N |
Missense |
30/38 |
- |
1 |
18-3086106-T-C |
c.4181A>G |
p.D1394G |
Missense |
30/38 |
- |
3 |
18-3086107-C-G |
c.4180G>C |
p.D1394H |
Missense |
30/38 |
- |
1 |
18-3086112-T-C |
c.4175A>G |
p.Y1392C |
Missense |
30/38 |
- |
2 |
18-3086119-C-T |
c.4168G>A |
p.V1390M |
Missense |
30/38 |
- |
1 |
18-3086121-A-C |
c.4166T>G |
p.I1389S |
Missense |
30/38 |
- |
3 |
18-3086125-G-C |
c.4162C>G |
p.H1388D |
Missense |
30/38 |
- |
1 |
18-3086126-A-G |
c.4161T>C |
p.T1387= |
Synonymous |
30/38 |
- |
2 |
18-3086130-T-A |
c.4157A>T |
p.E1386V |
Missense |
30/38 |
- |
2 |
18-3086132-C-G |
c.4155G>C |
p.K1385N |
Missense |
30/38 |
- |
1 |
18-3086139-A-G |
c.4148T>C |
p.I1383T |
Missense |
30/38 |
- |
1 |
18-3086145-G-A |
c.4142C>T |
p.A1381V |
Missense |
30/38 |
- |
1 |
18-3086147-C-A |
c.4140G>T |
p.V1380= |
Synonymous |
30/38 |
- |
1 |
18-3087943-C-T |
c.4137+1229G>A |
- |
IntronicSNV |
- |
29/37 |
1 |
18-3088903-T-A |
c.4137+269A>T |
- |
IntronicSNV |
- |
29/37 |
1 |
18-3088903-T-C |
c.4137+269A>G |
- |
IntronicSNV |
- |
29/37 |
1 |
18-3089123-CTATTT-C |
c.4137+44_4137+48del |
- |
IntronicDeletion |
- |
29/37 |
4 |
18-3089174-T-A |
c.4135A>T |
p.K1379* |
Nonsense |
29/38 |
- |
1 |
18-3089175-G-T |
c.4134C>A |
p.C1378* |
Nonsense |
29/38 |
- |
2 |
18-3089189-C-A |
c.4120G>T |
p.V1374L |
Missense |
29/38 |
- |
1 |
18-3089189-C-G |
c.4120G>C |
p.V1374L |
Missense |
29/38 |
- |
1 |
18-3089195-A-C |
c.4114T>G |
p.C1372G |
Missense |
29/38 |
- |
1 |
18-3089200-C-A |
c.4109G>T |
p.G1370V |
Missense |
29/38 |
- |
1 |
18-3089201-C-A |
c.4108G>T |
p.G1370C |
Missense |
29/38 |
- |
1 |
18-3089203-G-A |
c.4106C>T |
p.T1369I |
Missense |
29/38 |
- |
1 |
18-3089205-CAC-GAT |
c.4102_4104delinsATC |
p.V1368I |
Missense |
29/38 |
- |
1 |
18-3089210-C-A |
c.4099G>T |
p.E1367* |
Nonsense |
29/38 |
- |
1 |
18-3089210-C-T |
c.4099G>A |
p.E1367K |
Missense |
29/38 |
- |
1 |
18-3089219-A-C |
c.4090T>G |
p.L1364V |
Missense |
29/38 |
- |
1 |
18-3089230-A-G |
c.4079T>C |
p.F1360S |
Missense |
29/38 |
- |
1 |
18-3089522-G-A |
c.4069+13C>T |
- |
IntronicSNV |
- |
28/37 |
7 |
18-3089522-G-T |
c.4069+13C>A |
- |
IntronicSNV |
- |
28/37 |
11 |
18-3089531-T-G |
c.4069+4A>C |
- |
IntronicSNV |
- |
28/37 |
1 |
18-3089548-C-T |
c.4056G>A |
p.W1352* |
Nonsense |
28/38 |
- |
1 |
18-3089557-C-T |
c.4047G>A |
p.R1349= |
Synonymous |
28/38 |
- |
1 |
18-3089558-C-T |
c.4046G>A |
p.R1349Q |
Missense |
28/38 |
- |
1 |
18-3089559-G-A |
c.4045C>T |
p.R1349W |
Missense |
28/38 |
- |
1 |
18-3089561-TG-GA |
c.4042_4043delinsTC |
p.Q1348S |
Missense |
28/38 |
- |
1 |
18-3089566-T-C |
c.4038A>G |
p.E1346= |
Synonymous |
28/38 |
- |
2 |
18-3089570-G-A |
c.4034C>T |
p.A1345V |
Missense |
28/38 |
- |
1 |
18-3089570-G-C |
c.4034C>G |
p.A1345G |
Missense |
28/38 |
- |
1 |
18-3089571-C-T |
c.4033G>A |
p.A1345T |
Missense |
28/38 |
- |
1 |
18-3089576-T-C |
c.4028A>G |
p.K1343R |
Missense |
28/38 |
- |
1 |
18-3089582-A-G |
c.4022T>C |
p.L1341P |
Missense |
28/38 |
- |
1 |
18-3089719-T-A |
c.4010-125A>T |
- |
IntronicSNV |
- |
27/37 |
1 |
18-3089719-T-G |
c.4010-125A>C |
- |
IntronicSNV |
- |
27/37 |
1 |
18-3090362-T-C |
c.4009+294A>G |
- |
IntronicSNV |
- |
27/37 |
1 |
18-3090493-T-C |
c.4009+163A>G |
- |
IntronicSNV |
- |
27/37 |
1 |
18-3090609-G-T |
c.4009+47C>A |
- |
IntronicSNV |
- |
27/37 |
1 |
18-3090658-T-A |
c.4007A>T |
p.D1336V |
Missense |
27/38 |
- |
1 |
18-3090659-C-A |
c.4006G>T |
p.D1336Y |
Missense |
27/38 |
- |
1 |
18-3090661-C-G |
c.4004G>C |
p.G1335A |
Missense |
27/38 |
- |
1 |
18-3090665-C-T |
c.4000G>A |
p.V1334I |
Missense |
27/38 |
- |
3 |
18-3090668-G-A |
c.3997C>T |
p.L1333F |
Missense |
27/38 |
- |
2 |
18-3090675-A-C |
c.3990T>G |
p.T1330= |
Synonymous |
27/38 |
- |
1 |
18-3090679-G-A |
c.3986C>T |
p.S1329F |
Missense |
27/38 |
- |
1 |
18-3090679-G-T |
c.3986C>A |
p.S1329Y |
Missense |
27/38 |
- |
1 |
18-3090685-T-A |
c.3980A>T |
p.N1327I |
Missense |
27/38 |
- |
1 |
18-3090687-A-C |
c.3978T>G |
p.T1326= |
Synonymous |
27/38 |
- |
1 |
18-3090688-G-A |
c.3977C>T |
p.T1326I |
Missense |
27/38 |
- |
1 |
18-3090697-C-T |
c.3968G>A |
p.G1323E |
Missense |
27/38 |
- |
5 |
18-3090698-C-T |
c.3967G>A |
p.G1323R |
Missense |
27/38 |
- |
1 |
18-3090701-C-G |
c.3964G>C |
p.D1322H |
Missense |
27/38 |
- |
3 |
18-3090720-C-A |
c.3945G>T |
p.T1315= |
Synonymous |
27/38 |
- |
1 |
18-3090720-C-G |
c.3945G>C |
p.T1315= |
Synonymous |
27/38 |
- |
1 |
18-3090720-C-T |
c.3945G>A |
p.T1315= |
Synonymous |
27/38 |
- |
3 |
18-3090721-G-A |
c.3944C>T |
p.T1315M |
Missense |
27/38 |
- |
2 |
18-3090721-G-C |
c.3944C>G |
p.T1315R |
Missense |
27/38 |
- |
2 |
18-3090725-C-G |
c.3940G>C |
p.G1314R |
Missense |
27/38 |
- |
1 |
18-3090725-C-T |
c.3940G>A |
p.G1314R |
Missense |
27/38 |
- |
2 |
18-3090726-C-T |
c.3939G>A |
p.E1313= |
Synonymous |
27/38 |
- |
4 |
18-3090731-C-T |
c.3934G>A |
p.D1312N |
Missense |
27/38 |
- |
7 |
18-3090737-C-A |
c.3928G>T |
p.D1310Y |
Missense |
27/38 |
- |
1 |
18-3090739-T-G |
c.3926A>C |
p.Q1309P |
Missense |
27/38 |
- |
1 |
18-3090741-T-A |
c.3924A>T |
p.L1308= |
Synonymous |
27/38 |
- |
1 |
18-3090741-T-C |
c.3924A>G |
p.L1308= |
Synonymous |
27/38 |
- |
1 |
18-3090741-T-G |
c.3924A>C |
p.L1308= |
Synonymous |
27/38 |
- |
1 |
18-3090743-G-A |
c.3922C>T |
p.L1308= |
Synonymous |
27/38 |
- |
1 |
18-3090749-C-T |
c.3916G>A |
p.E1306K |
Missense |
27/38 |
- |
1 |
18-3090751-A-G |
c.3914T>C |
p.M1305T |
Missense |
27/38 |
- |
2 |
18-3090761-C-T |
c.3904G>A |
p.E1302K |
Missense |
27/38 |
- |
7 |
18-3090778-C-T |
c.3887G>A |
p.R1296Q |
Missense |
27/38 |
- |
4 |
18-3090789-C-T |
c.3876G>A |
p.M1292I |
Missense |
27/38 |
- |
1 |
18-3090793-T-C |
c.3872A>G |
p.K1291R |
Missense |
27/38 |
- |
1 |
18-3090796-T-A |
c.3869A>T |
p.Y1290F |
Missense |
27/38 |
- |
1 |
18-3093474-C-G |
c.3864+694G>C |
- |
IntronicSNV |
- |
26/37 |
1 |
18-3093474-C-T |
c.3864+694G>A |
- |
IntronicSNV |
- |
26/37 |
1 |
18-3094131-A-G |
c.3864+37T>C |
- |
IntronicSNV |
- |
26/37 |
1 |
18-3094165-T-G |
c.3864+3A>C |
- |
IntronicSNV |
- |
26/37 |
1 |
18-3094169-G-A |
c.3863C>T |
p.P1288L |
Missense |
26/38 |
- |
1 |
18-3094169-G-C |
c.3863C>G |
p.P1288R |
Missense |
26/38 |
- |
1 |
18-3094176-C-T |
c.3856G>A |
p.E1286K |
Missense |
26/38 |
- |
4 |
18-3094185-C-T |
c.3847G>A |
p.E1283K |
Missense |
26/38 |
- |
1 |
18-3094187-T-G |
c.3845A>C |
p.K1282T |
Missense |
26/38 |
- |
1 |
18-3094191-C-G |
c.3841G>C |
p.E1281Q |
Missense |
26/38 |
- |
6 |
18-3094191-C-T |
c.3841G>A |
p.E1281K |
Missense |
26/38 |
- |
2 |
18-3094192-G-A |
c.3840C>T |
p.N1280= |
Synonymous |
26/38 |
- |
2 |
18-3094205-T-C |
c.3827A>G |
p.N1276S |
Missense |
26/38 |
- |
1 |
18-3094207-G-A |
c.3825C>T |
p.V1275= |
Synonymous |
26/38 |
- |
1 |
18-3094210-T-G |
c.3822A>C |
p.K1274N |
Missense |
26/38 |
- |
1 |
18-3094221-C-T |
c.3811G>A |
p.G1271S |
Missense |
26/38 |
- |
1 |
18-3094226-A-G |
c.3806T>C |
p.L1269P |
Missense |
26/38 |
- |
1 |
18-3094228-T-C |
c.3804A>G |
p.K1268= |
Synonymous |
26/38 |
- |
1 |
18-3094231-C-A |
c.3801G>T |
p.E1267D |
Missense |
26/38 |
- |
1 |
18-3094239-G-A |
c.3793C>T |
p.Q1265* |
Nonsense |
26/38 |
- |
1 |
18-3094244-C-T |
c.3788G>A |
p.W1263* |
Nonsense |
26/38 |
- |
1 |
18-3094250-C-T |
c.3782G>A |
p.R1261Q |
Missense |
26/38 |
- |
1 |
18-3094251-G-A |
c.3781C>T |
p.R1261W |
Missense |
26/38 |
- |
1 |
18-3094252-G-A |
c.3780C>T |
p.V1260= |
Synonymous |
26/38 |
- |
3 |
18-3094260-C-T |
c.3772G>A |
p.G1258S |
Missense |
26/38 |
- |
1 |
18-3094261-T-A |
c.3771A>T |
p.K1257N |
Missense |
26/38 |
- |
1 |
18-3094261-T-G |
c.3771A>C |
p.K1257N |
Missense |
26/38 |
- |
1 |
18-3094263-T-G |
c.3769A>C |
p.K1257Q |
Missense |
26/38 |
- |
1 |
18-3094266-C-A |
c.3766G>T |
p.E1256* |
Nonsense |
26/38 |
- |
3 |
18-3094267-C-A |
c.3765G>T |
p.L1255F |
Missense |
26/38 |
- |
1 |
18-3094269-A-G |
c.3763T>C |
p.L1255= |
Synonymous |
26/38 |
- |
3 |
18-3094275-C-A |
c.3757G>T |
p.E1253* |
Nonsense |
26/38 |
- |
1 |
18-3094275-C-T |
c.3757G>A |
p.E1253K |
Missense |
26/38 |
- |
5 |
18-3094280-G-A |
c.3752C>T |
p.A1251V |
Missense |
26/38 |
- |
1 |
18-3094282-C-A |
c.3750G>T |
p.L1250F |
Missense |
26/38 |
- |
2 |
18-3094288-TG-AC |
c.3743_3744delinsGT |
p.S1248C |
Missense |
26/38 |
- |
1 |
18-3094299-G-C |
c.3733C>G |
p.P1245A |
Missense |
26/38 |
- |
3 |
18-3094393-C-A |
c.3728-89G>T |
- |
IntronicSNV |
- |
25/37 |
1 |
18-3098420-C-T |
c.3727+1737G>A |
- |
IntronicSNV |
- |
25/37 |
1 |
18-3099681-G-A |
c.3727+476C>T |
- |
IntronicSNV |
- |
25/37 |
1 |
18-3100051-T-C |
c.3727+106A>G |
- |
IntronicSNV |
- |
25/37 |
4 |
18-3100157-T-G |
c.3727A>C |
p.T1243P |
Missense |
25/38 |
- |
1 |
18-3100172-C-T |
c.3712G>A |
p.E1238K |
Missense |
25/38 |
- |
3 |
18-3100175-G-A |
c.3709C>T |
p.H1237Y |
Missense |
25/38 |
- |
1 |
18-3100181-G-A |
c.3703C>T |
p.L1235F |
Missense |
25/38 |
- |
2 |
18-3100185-A-G |
c.3699T>C |
p.L1233= |
Synonymous |
25/38 |
- |
1 |
18-3100192-C-G |
c.3692G>C |
p.R1231P |
Missense |
25/38 |
- |
2 |
18-3100192-C-T |
c.3692G>A |
p.R1231H |
Missense |
25/38 |
- |
2 |
18-3100193-G-A |
c.3691C>T |
p.R1231C |
Missense |
25/38 |
- |
4 |
18-3100197-C-T |
c.3687G>A |
p.L1229= |
Synonymous |
25/38 |
- |
2 |
18-3100198-A-T |
c.3686T>A |
p.L1229* |
Nonsense |
25/38 |
- |
1 |
18-3100199-A-G |
c.3685T>C |
p.L1229= |
Synonymous |
25/38 |
- |
1 |
18-3100200-T-C |
c.3684A>G |
p.E1228= |
Synonymous |
25/38 |
- |
1 |
18-3100200-T-G |
c.3684A>C |
p.E1228D |
Missense |
25/38 |
- |
1 |
18-3100275-C-G |
c.3682+43G>C |
- |
IntronicSNV |
- |
24/37 |
1 |
18-3100321-C-T |
c.3679G>A |
p.E1227K |
Missense |
24/38 |
- |
4 |
18-3100327-C-T |
c.3673G>A |
p.D1225N |
Missense |
24/38 |
- |
2 |
18-3100335-T-C |
c.3665A>G |
p.Y1222C |
Missense |
24/38 |
- |
1 |
18-3100354-C-T |
c.3646G>A |
p.D1216N |
Missense |
24/38 |
- |
1 |
18-3100356-G-A |
c.3644C>T |
p.T1215I |
Missense |
24/38 |
- |
1 |
18-3100360-C-G |
c.3640G>C |
p.D1214H |
Missense |
24/38 |
- |
1 |
18-3100369-C-A |
c.3631G>T |
p.D1211Y |
Missense |
24/38 |
- |
1 |
18-3100370-G-A |
c.3630C>T |
p.C1210= |
Synonymous |
24/38 |
- |
2 |
18-3100374-G-A |
c.3626C>T |
p.S1209F |
Missense |
24/38 |
- |
1 |
18-3100374-G-T |
c.3626C>A |
p.S1209Y |
Missense |
24/38 |
- |
1 |
18-3100384-C-T |
c.3616G>A |
p.G1206S |
Missense |
24/38 |
- |
1 |
18-3100398-C-A |
c.3602G>T |
p.G1201V |
Missense |
24/38 |
- |
1 |
18-3100402-G-A |
c.3598C>T |
p.L1200F |
Missense |
24/38 |
- |
1 |
18-3100420-T-G |
c.3580A>C |
p.K1194Q |
Missense |
24/38 |
- |
1 |
18-3100421-C-A |
c.3579G>T |
p.T1193= |
Synonymous |
24/38 |
- |
4 |
18-3100421-C-G |
c.3579G>C |
p.T1193= |
Synonymous |
24/38 |
- |
2 |
18-3100421-C-T |
c.3579G>A |
p.T1193= |
Synonymous |
24/38 |
- |
5 |
18-3100422-G-A |
c.3578C>T |
p.T1193M |
Missense |
24/38 |
- |
5 |
18-3100422-G-T |
c.3578C>A |
p.T1193K |
Missense |
24/38 |
- |
1 |
18-3100429-G-A |
c.3576-5C>T |
- |
IntronicSNV |
- |
23/37 |
11 |
18-3102257-C-A |
c.3575+215G>T |
- |
IntronicSNV |
- |
23/37 |
1 |
18-3102257-C-G |
c.3575+215G>C |
- |
IntronicSNV |
- |
23/37 |
2 |
18-3102475-T-C |
c.3572A>G |
p.N1191S |
Missense |
23/38 |
- |
1 |
18-3102478-C-G |
c.3569G>C |
p.G1190A |
Missense |
23/38 |
- |
1 |
18-3102479-C-T |
c.3568G>A |
p.G1190S |
Missense |
23/38 |
- |
1 |
18-3102484-C-T |
c.3563G>A |
p.S1188N |
Missense |
23/38 |
- |
5 |
18-3102485-T-A |
c.3562A>T |
p.S1188C |
Missense |
23/38 |
- |
1 |
18-3102488-C-A |
c.3559G>T |
p.E1187* |
Nonsense |
23/38 |
- |
1 |
18-3102488-C-T |
c.3559G>A |
p.E1187K |
Missense |
23/38 |
- |
5 |
18-3102489-G-A |
c.3558C>T |
p.V1186= |
Synonymous |
23/38 |
- |
2 |
18-3102489-G-C |
c.3558C>G |
p.V1186= |
Synonymous |
23/38 |
- |
1 |
18-3102489-G-T |
c.3558C>A |
p.V1186= |
Synonymous |
23/38 |
- |
1 |
18-3102494-C-G |
c.3553G>C |
p.E1185Q |
Missense |
23/38 |
- |
2 |
18-3102494-C-T |
c.3553G>A |
p.E1185K |
Missense |
23/38 |
- |
3 |
18-3102496-A-T |
c.3551T>A |
p.L1184* |
Nonsense |
23/38 |
- |
1 |
18-3102499-C-T |
c.3548G>A |
p.R1183Q |
Missense |
23/38 |
- |
6 |
18-3102500-G-A |
c.3547C>T |
p.R1183* |
Nonsense |
23/38 |
- |
4 |
18-3102502-G-A |
c.3545C>T |
p.P1182L |
Missense |
23/38 |
- |
3 |
18-3102508-T-C |
c.3539A>G |
p.D1180G |
Missense |
23/38 |
- |
1 |
18-3102512-C-T |
c.3535G>A |
p.E1179K |
Missense |
23/38 |
- |
2 |
18-3102520-A-G |
c.3527T>C |
p.V1176A |
Missense |
23/38 |
- |
1 |
18-3102521-C-A |
c.3526G>T |
p.V1176L |
Missense |
23/38 |
- |
2 |
18-3102521-C-G |
c.3526G>C |
p.V1176L |
Missense |
23/38 |
- |
2 |
18-3102523-T-C |
c.3524A>G |
p.Y1175C |
Missense |
23/38 |
- |
3 |
18-3102527-C-A |
c.3520G>T |
p.D1174Y |
Missense |
23/38 |
- |
3 |
18-3102527-C-T |
c.3520G>A |
p.D1174N |
Missense |
23/38 |
- |
5 |
18-3102530-T-C |
c.3517A>G |
p.K1173E |
Missense |
23/38 |
- |
2 |
18-3102535-C-A |
c.3512G>T |
p.W1171L |
Missense |
23/38 |
- |
1 |
18-3102538-G-A |
c.3509C>T |
p.S1170F |
Missense |
23/38 |
- |
1 |
18-3102545-C-G |
c.3502G>C |
p.E1168Q |
Missense |
23/38 |
- |
5 |
18-3102545-C-T |
c.3502G>A |
p.E1168K |
Missense |
23/38 |
- |
2 |
18-3102547-G-A |
c.3500C>T |
p.S1167F |
Missense |
23/38 |
- |
1 |
18-3102548-A-T |
c.3499T>A |
p.S1167T |
Missense |
23/38 |
- |
1 |
18-3102552-T-C |
c.3495A>G |
p.P1165= |
Synonymous |
23/38 |
- |
1 |
18-3102553-G-A |
c.3494C>T |
p.P1165L |
Missense |
23/38 |
- |
3 |
18-3102554-G-A |
c.3493C>T |
p.P1165S |
Missense |
23/38 |
- |
1 |
18-3102558-C-A |
c.3489G>T |
p.M1163I |
Missense |
23/38 |
- |
2 |
18-3102558-C-G |
c.3489G>C |
p.M1163I |
Missense |
23/38 |
- |
2 |
18-3102558-C-T |
c.3489G>A |
p.M1163I |
Missense |
23/38 |
- |
2 |
18-3102561-C-T |
c.3486G>A |
p.K1162= |
Synonymous |
23/38 |
- |
3 |
18-3102572-C-T |
c.3475G>A |
p.E1159K |
Missense |
23/38 |
- |
1 |
18-3102583-G-A |
c.3464C>T |
p.S1155L |
Missense |
23/38 |
- |
3 |
18-3102592-C-T |
c.3455G>A |
p.G1152E |
Missense |
23/38 |
- |
1 |
18-3102591-TC-T |
c.3455del |
p.G1152Efs*5 |
Frameshift |
23/38 |
- |
1 |
18-3102594-A-C |
c.3453T>G |
p.D1151E |
Missense |
23/38 |
- |
1 |
18-3102594-A-T |
c.3453T>A |
p.D1151E |
Missense |
23/38 |
- |
3 |
18-3102608-T-G |
c.3439A>C |
p.N1147H |
Missense |
23/38 |
- |
6 |
18-3102618-C-A |
c.3429G>T |
p.E1143D |
Missense |
23/38 |
- |
1 |
18-3102625-G-A |
c.3422C>T |
p.T1141I |
Missense |
23/38 |
- |
3 |
18-3102628-C-T |
c.3419G>A |
p.G1140E |
Missense |
23/38 |
- |
3 |
18-3107581-C-A |
c.3418+4715G>T |
- |
IntronicSNV |
- |
22/37 |
1 |
18-3108115-TA-T |
c.3418+4180del |
- |
IntronicDeletion |
- |
22/37 |
1 |
18-3112049-A-C |
c.3418+247T>G |
- |
IntronicSNV |
- |
22/37 |
2 |
18-3112096-G-A |
c.3418+200C>T |
- |
IntronicSNV |
- |
22/37 |
4 |
18-3112096-G-T |
c.3418+200C>A |
- |
IntronicSNV |
- |
22/37 |
5 |
18-3112120-T-C |
c.3418+176A>G |
- |
IntronicSNV |
- |
22/37 |
4 |
18-3112231-G-A |
c.3418+65C>T |
- |
IntronicSNV |
- |
22/37 |
4 |
18-3112231-G-C |
c.3418+65C>G |
- |
IntronicSNV |
- |
22/37 |
7 |
18-3112231-G-T |
c.3418+65C>A |
- |
IntronicSNV |
- |
22/37 |
4 |
18-3112252-C-A |
c.3418+44G>T |
- |
IntronicSNV |
- |
22/37 |
3 |
18-3112299-G-A |
c.3415C>T |
p.P1139S |
Missense |
22/38 |
- |
2 |
18-3112301-C-T |
c.3413G>A |
p.R1138H |
Missense |
22/38 |
- |
1 |
18-3112302-G-A |
c.3412C>T |
p.R1138C |
Missense |
22/38 |
- |
1 |
18-3112303-G-T |
c.3411C>A |
p.T1137= |
Synonymous |
22/38 |
- |
1 |
18-3112304-G-A |
c.3410C>T |
p.T1137I |
Missense |
22/38 |
- |
1 |
18-3112305-T-C |
c.3409A>G |
p.T1137A |
Missense |
22/38 |
- |
1 |
18-3112312-CAC-GAT |
c.3400_3402delinsATC |
p.V1134I |
Missense |
22/38 |
- |
1 |
18-3112317-C-G |
c.3397G>C |
p.V1133L |
Missense |
22/38 |
- |
1 |
18-3112319-G-A |
c.3395C>T |
p.P1132L |
Missense |
22/38 |
- |
1 |
18-3112319-G-T |
c.3395C>A |
p.P1132H |
Missense |
22/38 |
- |
1 |
18-3112320-G-A |
c.3394C>T |
p.P1132S |
Missense |
22/38 |
- |
1 |
18-3112322-C-T |
c.3392G>A |
p.G1131D |
Missense |
22/38 |
- |
1 |
18-3112326-C-A |
c.3388G>T |
p.A1130S |
Missense |
22/38 |
- |
1 |
18-3112336-T-A |
c.3378A>T |
p.P1126= |
Synonymous |
22/38 |
- |
1 |
18-3112336-T-C |
c.3378A>G |
p.P1126= |
Synonymous |
22/38 |
- |
1 |
18-3112336-T-G |
c.3378A>C |
p.P1126= |
Synonymous |
22/38 |
- |
1 |
18-3112337-G-T |
c.3377C>A |
p.P1126Q |
Missense |
22/38 |
- |
1 |
18-3112338-G-A |
c.3376C>T |
p.P1126S |
Missense |
22/38 |
- |
1 |
18-3112338-G-T |
c.3376C>A |
p.P1126T |
Missense |
22/38 |
- |
3 |
18-3112343-C-T |
c.3371G>A |
p.G1124E |
Missense |
22/38 |
- |
1 |
18-3112344-C-G |
c.3370G>C |
p.G1124R |
Missense |
22/38 |
- |
1 |
18-3112344-C-T |
c.3370G>A |
p.G1124R |
Missense |
22/38 |
- |
1 |
18-3112350-C-T |
c.3364G>A |
p.G1122R |
Missense |
22/38 |
- |
1 |
18-3112352-G-A |
c.3362C>T |
p.A1121V |
Missense |
22/38 |
- |
2 |
18-3112353-C-G |
c.3361G>C |
p.A1121P |
Missense |
22/38 |
- |
1 |
18-3112358-T-C |
c.3356A>G |
p.N1119S |
Missense |
22/38 |
- |
1 |
18-3112367-C-A |
c.3347G>T |
p.R1116L |
Missense |
22/38 |
- |
1 |
18-3112367-C-T |
c.3347G>A |
p.R1116Q |
Missense |
22/38 |
- |
1 |
18-3112368-G-A |
c.3346C>T |
p.R1116* |
Nonsense |
22/38 |
- |
2 |
18-3112368-G-C |
c.3346C>G |
p.R1116G |
Missense |
22/38 |
- |
1 |
18-3112373-C-T |
c.3341G>A |
p.R1114H |
Missense |
22/38 |
- |
1 |
18-3112374-G-A |
c.3340C>T |
p.R1114C |
Missense |
22/38 |
- |
4 |
18-3112377-A-G |
c.3337T>C |
p.F1113L |
Missense |
22/38 |
- |
1 |
18-3112380-C-T |
c.3334G>A |
p.V1112M |
Missense |
22/38 |
- |
1 |
18-3112381-G-A |
c.3333C>T |
p.Y1111= |
Synonymous |
22/38 |
- |
1 |
18-3112389-C-T |
c.3325G>A |
p.V1109I |
Missense |
22/38 |
- |
1 |
18-3112399-G-A |
c.3315C>T |
p.L1105= |
Synonymous |
22/38 |
- |
1 |
18-3112399-G-C |
c.3315C>G |
p.L1105= |
Synonymous |
22/38 |
- |
1 |
18-3112399-G-T |
c.3315C>A |
p.L1105= |
Synonymous |
22/38 |
- |
1 |
18-3112401-G-A |
c.3313C>T |
p.L1105F |
Missense |
22/38 |
- |
1 |
18-3112406-C-T |
c.3308G>A |
p.R1103Q |
Missense |
22/38 |
- |
3 |
18-3112407-G-A |
c.3307C>T |
p.R1103* |
Nonsense |
22/38 |
- |
3 |
18-3112409-A-G |
c.3305T>C |
p.V1102A |
Missense |
22/38 |
- |
1 |
18-3112568-C-A |
c.3304-158G>T |
- |
IntronicSNV |
- |
21/37 |
4 |
18-3112568-C-T |
c.3304-158G>A |
- |
IntronicSNV |
- |
21/37 |
4 |
18-3112621-G-A |
c.3304-211C>T |
- |
IntronicSNV |
- |
21/37 |
3 |
18-3112621-G-T |
c.3304-211C>A |
- |
IntronicSNV |
- |
21/37 |
3 |
18-3115688-C-T |
c.3303+641G>A |
- |
IntronicSNV |
- |
21/37 |
1 |
18-3116329-C-A |
c.3303G>T |
p.K1101N |
Missense |
21/38 |
- |
1 |
18-3116329-C-G |
c.3303G>C |
p.K1101N |
Missense |
21/38 |
- |
1 |
18-3116330-T-G |
c.3302A>C |
p.K1101T |
Missense |
21/38 |
- |
1 |
18-3116332-C-A |
c.3300G>T |
p.L1100= |
Synonymous |
21/38 |
- |
2 |
18-3116332-C-G |
c.3300G>C |
p.L1100= |
Synonymous |
21/38 |
- |
2 |
18-3116332-C-T |
c.3300G>A |
p.L1100= |
Synonymous |
21/38 |
- |
4 |
18-3116334-G-A |
c.3298C>T |
p.L1100= |
Synonymous |
21/38 |
- |
2 |
18-3116333-A-G |
c.3299T>C |
p.L1100P |
Missense |
21/38 |
- |
1 |
18-3116336-T-C |
c.3296A>G |
p.Y1099C |
Missense |
21/38 |
- |
2 |
18-3116340-C-A |
c.3292G>T |
p.V1098L |
Missense |
21/38 |
- |
2 |
18-3116340-C-G |
c.3292G>C |
p.V1098L |
Missense |
21/38 |
- |
1 |
18-3116340-C-T |
c.3292G>A |
p.V1098I |
Missense |
21/38 |
- |
4 |
18-3116341-G-A |
c.3291C>T |
p.N1097= |
Synonymous |
21/38 |
- |
1 |
18-3116346-T-C |
c.3286A>G |
p.K1096E |
Missense |
21/38 |
- |
2 |
18-3116349-T-C |
c.3283A>G |
p.I1095V |
Missense |
21/38 |
- |
3 |
18-3116354-G-T |
c.3278C>A |
p.A1093E |
Missense |
21/38 |
- |
1 |
18-3116356-C-T |
c.3276G>A |
p.E1092= |
Synonymous |
21/38 |
- |
1 |
18-3116369-C-T |
c.3263G>A |
p.R1088Q |
Missense |
21/38 |
- |
2 |
18-3116370-G-A |
c.3262C>T |
p.R1088* |
Nonsense |
21/38 |
- |
1 |
18-3116371-C-T |
c.3261G>A |
p.W1087* |
Nonsense |
21/38 |
- |
1 |
18-3116372-C-T |
c.3260G>A |
p.W1087* |
Nonsense |
21/38 |
- |
2 |
18-3116374-C-T |
c.3258G>A |
p.Q1086= |
Synonymous |
21/38 |
- |
3 |
18-3116378-T-C |
c.3254A>G |
p.D1085G |
Missense |
21/38 |
- |
1 |
18-3116388-C-T |
c.3244G>A |
p.A1082T |
Missense |
21/38 |
- |
1 |
18-3116397-C-T |
c.3235G>A |
p.E1079K |
Missense |
21/38 |
- |
1 |
18-3116398-C-T |
c.3234G>A |
p.K1078= |
Synonymous |
21/38 |
- |
1 |
18-3116406-C-T |
c.3226G>A |
p.D1076N |
Missense |
21/38 |
- |
4 |
18-3116409-C-T |
c.3223G>A |
p.V1075M |
Missense |
21/38 |
- |
2 |
18-3116410-G-A |
c.3222C>T |
p.F1074= |
Synonymous |
21/38 |
- |
4 |
18-3116410-G-T |
c.3222C>A |
p.F1074L |
Missense |
21/38 |
- |
3 |
18-3116412-A-T |
c.3220T>A |
p.F1074I |
Missense |
21/38 |
- |
1 |
18-3116417-C-G |
c.3215G>C |
p.G1072A |
Missense |
21/38 |
- |
1 |
18-3116422-G-A |
c.3210C>T |
p.V1070= |
Synonymous |
21/38 |
- |
1 |
18-3116422-G-C |
c.3210C>G |
p.V1070= |
Synonymous |
21/38 |
- |
1 |
18-3116422-G-T |
c.3210C>A |
p.V1070= |
Synonymous |
21/38 |
- |
1 |
18-3116423-A-G |
c.3209T>C |
p.V1070A |
Missense |
21/38 |
- |
1 |
18-3116425-C-A |
c.3207G>T |
p.P1069= |
Synonymous |
21/38 |
- |
2 |
18-3116425-C-G |
c.3207G>C |
p.P1069= |
Synonymous |
21/38 |
- |
2 |
18-3116425-C-T |
c.3207G>A |
p.P1069= |
Synonymous |
21/38 |
- |
2 |
18-3116426-G-T |
c.3206C>A |
p.P1069Q |
Missense |
21/38 |
- |
1 |
18-3116432-C-T |
c.3200G>A |
p.R1067Q |
Missense |
21/38 |
- |
4 |
18-3116431-C-A |
c.3201G>T |
p.R1067= |
Synonymous |
21/38 |
- |
1 |
18-3116431-C-G |
c.3201G>C |
p.R1067= |
Synonymous |
21/38 |
- |
1 |
18-3116431-C-T |
c.3201G>A |
p.R1067= |
Synonymous |
21/38 |
- |
1 |
18-3116433-G-A |
c.3199C>T |
p.R1067W |
Missense |
21/38 |
- |
4 |
18-3116433-G-T |
c.3199C>A |
p.R1067= |
Synonymous |
21/38 |
- |
1 |
18-3116435-C-T |
c.3197G>A |
p.G1066E |
Missense |
21/38 |
- |
3 |
18-3116437-G-A |
c.3195C>T |
p.S1065= |
Synonymous |
21/38 |
- |
1 |
18-3116437-G-C |
c.3195C>G |
p.S1065= |
Synonymous |
21/38 |
- |
1 |
18-3116442-G-A |
c.3190C>T |
p.H1064Y |
Missense |
21/38 |
- |
1 |
18-3116443-GAC-CAT |
c.3187_3189delinsATG |
p.V1063M |
Missense |
21/38 |
- |
1 |
18-3116450-G-A |
c.3182C>T |
p.P1061L |
Missense |
21/38 |
- |
1 |
18-3116453-T-C |
c.3179A>G |
p.K1060R |
Missense |
21/38 |
- |
1 |
18-3116472-A-G |
c.3160T>C |
p.S1054P |
Missense |
21/38 |
- |
1 |
18-3116474-T-C |
c.3158A>G |
p.D1053G |
Missense |
21/38 |
- |
1 |
18-3116475-C-A |
c.3157G>T |
p.D1053Y |
Missense |
21/38 |
- |
1 |
18-3116475-C-T |
c.3157G>A |
p.D1053N |
Missense |
21/38 |
- |
1 |
18-3116479-C-T |
c.3153G>A |
p.R1051= |
Synonymous |
21/38 |
- |
1 |
18-3116487-C-T |
c.3145G>A |
p.E1049K |
Missense |
21/38 |
- |
1 |
18-3116491-A-G |
c.3141T>C |
p.C1047= |
Synonymous |
21/38 |
- |
1 |
18-3116497-G-A |
c.3135C>T |
p.L1045= |
Synonymous |
21/38 |
- |
1 |
18-3116497-G-C |
c.3135C>G |
p.L1045= |
Synonymous |
21/38 |
- |
1 |
18-3116497-G-T |
c.3135C>A |
p.L1045= |
Synonymous |
21/38 |
- |
1 |
18-3116499-G-A |
c.3133C>T |
p.L1045F |
Missense |
21/38 |
- |
1 |
18-3116502-T-A |
c.3130A>T |
p.S1044C |
Missense |
21/38 |
- |
1 |
18-3116505-G-A |
c.3127C>T |
p.H1043Y |
Missense |
21/38 |
- |
1 |
18-3116506-CG-AT |
c.3125_3126delinsAT |
p.P1042H |
Missense |
21/38 |
- |
1 |
18-3116506-C-T |
c.3126G>A |
p.P1042= |
Synonymous |
21/38 |
- |
2 |
18-3116507-G-A |
c.3125C>T |
p.P1042L |
Missense |
21/38 |
- |
2 |
18-3116508-G-A |
c.3124C>T |
p.P1042S |
Missense |
21/38 |
- |
1 |
18-3116831-C-G |
c.3119-318G>C |
- |
IntronicSNV |
- |
20/37 |
1 |
18-3116831-C-T |
c.3119-318G>A |
- |
IntronicSNV |
- |
20/37 |
1 |
18-3116859-G-A |
c.3119-346C>T |
- |
IntronicSNV |
- |
20/37 |
1 |
18-3116859-G-T |
c.3119-346C>A |
- |
IntronicSNV |
- |
20/37 |
1 |
18-3119591-G-T |
c.3118+276C>A |
- |
IntronicSNV |
- |
20/37 |
1 |
18-3119871-G-A |
c.3114C>T |
p.V1038= |
Synonymous |
20/38 |
- |
3 |
18-3119873-C-G |
c.3112G>C |
p.V1038L |
Missense |
20/38 |
- |
1 |
18-3119873-C-T |
c.3112G>A |
p.V1038I |
Missense |
20/38 |
- |
1 |
18-3119875-G-A |
c.3110C>T |
p.A1037V |
Missense |
20/38 |
- |
1 |
18-3119876-C-T |
c.3109G>A |
p.A1037T |
Missense |
20/38 |
- |
4 |
18-3119881-G-T |
c.3104C>A |
p.T1035N |
Missense |
20/38 |
- |
1 |
18-3119888-C-G |
c.3097G>C |
p.E1033Q |
Missense |
20/38 |
- |
1 |
18-3119888-C-T |
c.3097G>A |
p.E1033K |
Missense |
20/38 |
- |
1 |
18-3119891-C-T |
c.3094G>A |
p.E1032K |
Missense |
20/38 |
- |
2 |
18-3119896-T-C |
c.3089A>G |
p.K1030R |
Missense |
20/38 |
- |
1 |
18-3119896-T-G |
c.3089A>C |
p.K1030T |
Missense |
20/38 |
- |
1 |
18-3119907-G-C |
c.3078C>G |
p.S1026R |
Missense |
20/38 |
- |
3 |
18-3119907-G-T |
c.3078C>A |
p.S1026R |
Missense |
20/38 |
- |
6 |
18-3119909-T-G |
c.3076A>C |
p.S1026R |
Missense |
20/38 |
- |
3 |
18-3119923-G-A |
c.3062C>T |
p.A1021V |
Missense |
20/38 |
- |
2 |
18-3119924-C-T |
c.3061G>A |
p.A1021T |
Missense |
20/38 |
- |
1 |
18-3119926-C-G |
c.3059G>C |
p.G1020A |
Missense |
20/38 |
- |
1 |
18-3119927-C-A |
c.3058G>T |
p.G1020C |
Missense |
20/38 |
- |
1 |
18-3119932-C-A |
c.3053G>T |
p.G1018V |
Missense |
20/38 |
- |
1 |
18-3119932-CC-TT |
c.3052_3053delinsAA |
p.G1018K |
Missense |
20/38 |
- |
1 |
18-3119939-T-C |
c.3046A>G |
p.M1016V |
Missense |
20/38 |
- |
1 |
18-3119940-G-A |
c.3045C>T |
p.N1015= |
Synonymous |
20/38 |
- |
5 |
18-3119940-G-C |
c.3045C>G |
p.N1015K |
Missense |
20/38 |
- |
1 |
18-3119940-G-T |
c.3045C>A |
p.N1015K |
Missense |
20/38 |
- |
1 |
18-3119942-T-A |
c.3043A>T |
p.N1015Y |
Missense |
20/38 |
- |
3 |
18-3119943-C-A |
c.3042G>T |
p.M1014I |
Missense |
20/38 |
- |
3 |
18-3119943-C-G |
c.3042G>C |
p.M1014I |
Missense |
20/38 |
- |
4 |
18-3119943-C-T |
c.3042G>A |
p.M1014I |
Missense |
20/38 |
- |
4 |
18-3119947-G-A |
c.3038C>T |
p.A1013V |
Missense |
20/38 |
- |
1 |
18-3119951-C-T |
c.3034G>A |
p.A1012T |
Missense |
20/38 |
- |
1 |
18-3119954-C-A |
c.3031G>T |
p.V1011L |
Missense |
20/38 |
- |
1 |
18-3119955-T-C |
c.3030A>G |
p.Q1010= |
Synonymous |
20/38 |
- |
1 |
18-3119975-T-A |
c.3010A>T |
p.N1004Y |
Missense |
20/38 |
- |
1 |
18-3119976-T-A |
c.3009A>T |
p.E1003D |
Missense |
20/38 |
- |
1 |
18-3119976-T-G |
c.3009A>C |
p.E1003D |
Missense |
20/38 |
- |
1 |
18-3120038-T-G |
c.2992-45A>C |
- |
IntronicSNV |
- |
19/37 |
1 |
18-3120060-G-A |
c.2992-67C>T |
- |
IntronicSNV |
- |
19/37 |
7 |
18-3126632-C-T |
c.2991+67G>A |
- |
IntronicSNV |
- |
19/37 |
4 |
18-3126706-G-A |
c.2984C>T |
p.A995V |
Missense |
19/38 |
- |
1 |
18-3126715-C-A |
c.2975G>T |
p.S992I |
Missense |
19/38 |
- |
1 |
18-3126719-C-G |
c.2971G>C |
p.V991L |
Missense |
19/38 |
- |
1 |
18-3126727-A-T |
c.2963T>A |
p.V988D |
Missense |
19/38 |
- |
1 |
18-3126733-G-A |
c.2957C>T |
p.A986V |
Missense |
19/38 |
- |
1 |
18-3126739-C-T |
c.2951G>A |
p.R984K |
Missense |
19/38 |
- |
4 |
18-3126748-C-A |
c.2942G>T |
p.G981V |
Missense |
19/38 |
- |
3 |
18-3126748-C-T |
c.2942G>A |
p.G981E |
Missense |
19/38 |
- |
5 |
18-3126750-T-C |
c.2940A>G |
p.P980= |
Synonymous |
19/38 |
- |
1 |
18-3126752-G-A |
c.2938C>T |
p.P980S |
Missense |
19/38 |
- |
1 |
18-3126752-G-C |
c.2938C>G |
p.P980A |
Missense |
19/38 |
- |
1 |
18-3126755-C-T |
c.2935G>A |
p.V979I |
Missense |
19/38 |
- |
2 |
18-3126761-C-G |
c.2929G>C |
p.D977H |
Missense |
19/38 |
- |
1 |
18-3126768-C-T |
c.2922G>A |
p.E974= |
Synonymous |
19/38 |
- |
2 |
18-3126770-C-T |
c.2920G>A |
p.E974K |
Missense |
19/38 |
- |
1 |
18-3126771-G-A |
c.2919C>T |
p.R973= |
Synonymous |
19/38 |
- |
2 |
18-3126771-GCG-TCA |
c.2917_2919delinsTGA |
p.R973* |
Nonsense |
19/38 |
- |
1 |
18-3126772-C-T |
c.2918G>A |
p.R973H |
Missense |
19/38 |
- |
1 |
18-3126782-C-A |
c.2908G>T |
p.V970L |
Missense |
19/38 |
- |
1 |
18-3126790-C-T |
c.2900G>A |
p.G967D |
Missense |
19/38 |
- |
1 |
18-3126793-G-A |
c.2897C>T |
p.T966I |
Missense |
19/38 |
- |
1 |
18-3126804-C-A |
c.2886G>T |
p.G962= |
Synonymous |
19/38 |
- |
1 |
18-3126804-C-G |
c.2886G>C |
p.G962= |
Synonymous |
19/38 |
- |
1 |
18-3126804-C-T |
c.2886G>A |
p.G962= |
Synonymous |
19/38 |
- |
1 |
18-3126808-C-A |
c.2882G>T |
p.G961V |
Missense |
19/38 |
- |
1 |
18-3126808-C-G |
c.2882G>C |
p.G961A |
Missense |
19/38 |
- |
1 |
18-3126808-C-T |
c.2882G>A |
p.G961E |
Missense |
19/38 |
- |
1 |
18-3126810-A-G |
c.2880T>C |
p.I960= |
Synonymous |
19/38 |
- |
1 |
18-3126810-A-T |
c.2880T>A |
p.I960= |
Synonymous |
19/38 |
- |
1 |
18-3126811-A-G |
c.2879T>C |
p.I960T |
Missense |
19/38 |
- |
30 |
18-3126816-A-G |
c.2874T>C |
p.D958= |
Synonymous |
19/38 |
- |
1 |
18-3126818-C-G |
c.2872G>C |
p.D958H |
Missense |
19/38 |
- |
1 |
18-3126821-G-A |
c.2869C>T |
p.P957S |
Missense |
19/38 |
- |
3 |
18-3126825-C-A |
c.2865G>T |
p.K955N |
Missense |
19/38 |
- |
1 |
18-3126825-C-G |
c.2865G>C |
p.K955N |
Missense |
19/38 |
- |
1 |
18-3126828-C-T |
c.2862G>A |
p.W954* |
Nonsense |
19/38 |
- |
2 |
18-3126832-C-G |
c.2858G>C |
p.G953A |
Missense |
19/38 |
- |
1 |
18-3126832-C-T |
c.2858G>A |
p.G953E |
Missense |
19/38 |
- |
4 |
18-3126833-C-A |
c.2857G>T |
p.G953* |
Nonsense |
19/38 |
- |
1 |
18-3126839-C-A |
c.2851G>T |
p.V951F |
Missense |
19/38 |
- |
1 |
18-3126842-T-C |
c.2848A>G |
p.M950V |
Missense |
19/38 |
- |
2 |
18-3126851-G-A |
c.2839C>T |
p.R947C |
Missense |
19/38 |
- |
10 |
18-3126860-C-A |
c.2830G>T |
p.E944* |
Nonsense |
19/38 |
- |
1 |
18-3126864-A-T |
c.2826T>A |
p.C942* |
Nonsense |
19/38 |
- |
1 |
18-3126874-T-C |
c.2816A>G |
p.D939G |
Missense |
19/38 |
- |
1 |
18-3126880-G-A |
c.2810C>T |
p.P937L |
Missense |
19/38 |
- |
1 |
18-3126886-GA-AG |
c.2803_2804delinsCT |
p.S935L |
Missense |
19/38 |
- |
1 |
18-3126888-T-A |
c.2802A>T |
p.P934= |
Synonymous |
19/38 |
- |
2 |
18-3126888-T-C |
c.2802A>G |
p.P934= |
Synonymous |
19/38 |
- |
3 |
18-3126888-T-G |
c.2802A>C |
p.P934= |
Synonymous |
19/38 |
- |
2 |
18-3129131-T-C |
c.2794+99A>G |
- |
IntronicSNV |
- |
18/37 |
6 |
18-3129232-C-T |
c.2792G>A |
p.R931K |
Missense |
18/38 |
- |
1 |
18-3129257-C-A |
c.2767G>T |
p.D923Y |
Missense |
18/38 |
- |
1 |
18-3129270-C-G |
c.2754G>C |
p.G918= |
Synonymous |
18/38 |
- |
1 |
18-3129276-A-C |
c.2748T>G |
p.P916= |
Synonymous |
18/38 |
- |
1 |
18-3129276-A-G |
c.2748T>C |
p.P916= |
Synonymous |
18/38 |
- |
1 |
18-3129276-A-T |
c.2748T>A |
p.P916= |
Synonymous |
18/38 |
- |
1 |
18-3129295-G-A |
c.2729C>T |
p.P910L |
Missense |
18/38 |
- |
1 |
18-3129295-G-T |
c.2729C>A |
p.P910Q |
Missense |
18/38 |
- |
2 |
18-3129297-C-A |
c.2727G>T |
p.P909= |
Synonymous |
18/38 |
- |
1 |
18-3129297-C-G |
c.2727G>C |
p.P909= |
Synonymous |
18/38 |
- |
1 |
18-3129297-C-T |
c.2727G>A |
p.P909= |
Synonymous |
18/38 |
- |
2 |
18-3129298-G-T |
c.2726C>A |
p.P909Q |
Missense |
18/38 |
- |
1 |
18-3129302-T-G |
c.2722A>C |
p.T908P |
Missense |
18/38 |
- |
2 |
18-3129307-T-G |
c.2717A>C |
p.E906A |
Missense |
18/38 |
- |
1 |
18-3129311-C-A |
c.2713G>T |
p.E905* |
Nonsense |
18/38 |
- |
1 |
18-3129319-G-A |
c.2705C>T |
p.T902I |
Missense |
18/38 |
- |
1 |
18-3129332-T-C |
c.2692A>G |
p.K898E |
Missense |
18/38 |
- |
1 |
18-3129336-C-A |
c.2688G>T |
p.V896= |
Synonymous |
18/38 |
- |
1 |
18-3129336-C-G |
c.2688G>C |
p.V896= |
Synonymous |
18/38 |
- |
1 |
18-3129336-C-T |
c.2688G>A |
p.V896= |
Synonymous |
18/38 |
- |
1 |
18-3129341-C-G |
c.2683G>C |
p.E895Q |
Missense |
18/38 |
- |
1 |
18-3129351-C-G |
c.2673G>C |
p.L891= |
Synonymous |
18/38 |
- |
1 |
18-3129355-T-A |
c.2669A>T |
p.N890I |
Missense |
18/38 |
- |
1 |
18-3129359-G-C |
c.2665C>G |
p.Q889E |
Missense |
18/38 |
- |
3 |
18-3129368-T-C |
c.2656A>G |
p.S886G |
Missense |
18/38 |
- |
3 |
18-3129371-G-C |
c.2653C>G |
p.P885A |
Missense |
18/38 |
- |
1 |
18-3129374-G-T |
c.2650C>A |
p.L884I |
Missense |
18/38 |
- |
1 |
18-3129378-A-C |
c.2646T>G |
p.P882= |
Synonymous |
18/38 |
- |
1 |
18-3129378-A-G |
c.2646T>C |
p.P882= |
Synonymous |
18/38 |
- |
1 |
18-3129378-A-T |
c.2646T>A |
p.P882= |
Synonymous |
18/38 |
- |
1 |
18-3129379-G-A |
c.2645C>T |
p.P882L |
Missense |
18/38 |
- |
1 |
18-3129393-G-C |
c.2631C>G |
p.S877R |
Missense |
18/38 |
- |
2 |
18-3129393-G-T |
c.2631C>A |
p.S877R |
Missense |
18/38 |
- |
2 |
18-3129395-T-G |
c.2629A>C |
p.S877R |
Missense |
18/38 |
- |
2 |
18-3129395-T-TTG |
c.2628_2629insCA |
p.S877Qfs*21 |
Frameshift |
18/38 |
- |
1 |
18-3129398-CCA-C |
c.2625_2626del |
p.G876Qfs*4 |
Frameshift |
18/38 |
- |
1 |
18-3129399-A-G |
c.2625T>C |
p.L875= |
Synonymous |
18/38 |
- |
2 |
18-3129401-G-A |
c.2623C>T |
p.L875F |
Missense |
18/38 |
- |
2 |
18-3129403-A-AAACCT |
c.2620_2621insAGGTT |
p.L874* |
Nonsense |
18/38 |
- |
1 |
18-3129407-C-T |
c.2617G>A |
p.A873T |
Missense |
18/38 |
- |
2 |
18-3129410-C-G |
c.2614G>C |
p.D872H |
Missense |
18/38 |
- |
1 |
18-3129410-C-T |
c.2614G>A |
p.D872N |
Missense |
18/38 |
- |
1 |
18-3129411-T-A |
c.2613A>T |
p.K871N |
Missense |
18/38 |
- |
2 |
18-3129411-T-G |
c.2613A>C |
p.K871N |
Missense |
18/38 |
- |
1 |
18-3129415-T-C |
c.2609A>G |
p.Q870R |
Missense |
18/38 |
- |
1 |
18-3129417-G-A |
c.2607C>T |
p.F869= |
Synonymous |
18/38 |
- |
1 |
18-3129423-T-A |
c.2601A>T |
p.P867= |
Synonymous |
18/38 |
- |
1 |
18-3129423-T-C |
c.2601A>G |
p.P867= |
Synonymous |
18/38 |
- |
1 |
18-3129423-T-G |
c.2601A>C |
p.P867= |
Synonymous |
18/38 |
- |
1 |
18-3129424-G-A |
c.2600C>T |
p.P867L |
Missense |
18/38 |
- |
1 |
18-3129426-CG-C |
c.2597del |
p.P866Rfs*31 |
Frameshift |
18/38 |
- |
2 |
18-3129432-G-A |
c.2592C>T |
p.A864= |
Synonymous |
18/38 |
- |
1 |
18-3129437-C-T |
c.2587G>A |
p.E863K |
Missense |
18/38 |
- |
5 |
18-3129438-A-C |
c.2586T>G |
p.H862Q |
Missense |
18/38 |
- |
1 |
18-3129438-A-T |
c.2586T>A |
p.H862Q |
Missense |
18/38 |
- |
1 |
18-3129442-A-C |
c.2582T>G |
p.V861G |
Missense |
18/38 |
- |
1 |
18-3129443-C-T |
c.2581G>A |
p.V861M |
Missense |
18/38 |
- |
2 |
18-3129445-C-T |
c.2579G>A |
p.R860H |
Missense |
18/38 |
- |
1 |
18-3129448-C-T |
c.2576G>A |
p.G859E |
Missense |
18/38 |
- |
5 |
18-3129446-GC-G |
c.2577del |
p.R860Afs*37 |
Frameshift |
18/38 |
- |
1 |
18-3129451-C-A |
c.2573G>T |
p.R858M |
Missense |
18/38 |
- |
1 |
18-3129459-G-A |
c.2565C>T |
p.T855= |
Synonymous |
18/38 |
- |
1 |
18-3129459-G-C |
c.2565C>G |
p.T855= |
Synonymous |
18/38 |
- |
1 |
18-3129459-G-T |
c.2565C>A |
p.T855= |
Synonymous |
18/38 |
- |
1 |
18-3129466-C-A |
c.2558G>T |
p.G853V |
Missense |
18/38 |
- |
1 |
18-3129467-C-A |
c.2557G>T |
p.G853* |
Nonsense |
18/38 |
- |
3 |
18-3129469-C-A |
c.2555G>T |
p.G852V |
Missense |
18/38 |
- |
1 |
18-3129469-CC-TT |
c.2554_2555delinsAA |
p.G852N |
Missense |
18/38 |
- |
1 |
18-3129469-C-T |
c.2555G>A |
p.G852D |
Missense |
18/38 |
- |
2 |
18-3129470-C-T |
c.2554G>A |
p.G852S |
Missense |
18/38 |
- |
2 |
18-3129472-G-A |
c.2552C>T |
p.P851L |
Missense |
18/38 |
- |
2 |
18-3129476-C-T |
c.2548G>A |
p.E850K |
Missense |
18/38 |
- |
1 |
18-3129479-C-T |
c.2545G>A |
p.D849N |
Missense |
18/38 |
- |
2 |
18-3129485-G-A |
c.2539C>T |
p.L847= |
Synonymous |
18/38 |
- |
1 |
18-3129495-C-A |
c.2529G>T |
p.V843= |
Synonymous |
18/38 |
- |
1 |
18-3129495-C-G |
c.2529G>C |
p.V843= |
Synonymous |
18/38 |
- |
1 |
18-3129495-C-T |
c.2529G>A |
p.V843= |
Synonymous |
18/38 |
- |
1 |
18-3129500-C-G |
c.2524G>C |
p.D842H |
Missense |
18/38 |
- |
1 |
18-3129503-G-A |
c.2521C>T |
p.P841S |
Missense |
18/38 |
- |
1 |
18-3129508-A-C |
c.2516T>G |
p.V839G |
Missense |
18/38 |
- |
1 |
18-3129508-A-G |
c.2516T>C |
p.V839A |
Missense |
18/38 |
- |
1 |
18-3129509-C-A |
c.2515G>T |
p.V839L |
Missense |
18/38 |
- |
1 |
18-3129517-C-A |
c.2507G>T |
p.G836V |
Missense |
18/38 |
- |
2 |
18-3131373-C-G |
c.2506G>C |
p.G836R |
Missense |
17/38 |
- |
1 |
18-3131373-C-T |
c.2506G>A |
p.G836R |
Missense |
17/38 |
- |
1 |
18-3131379-C-T |
c.2500G>A |
p.A834T |
Missense |
17/38 |
- |
2 |
18-3131382-C-T |
c.2497G>A |
p.A833T |
Missense |
17/38 |
- |
1 |
18-3131396-G-C |
c.2483C>G |
p.A828G |
Missense |
17/38 |
- |
1 |
18-3131406-C-A |
c.2473G>T |
p.D825Y |
Missense |
17/38 |
- |
1 |
18-3131411-G-A |
c.2468C>T |
p.S823F |
Missense |
17/38 |
- |
1 |
18-3131413-A-C |
c.2466T>G |
p.Y822* |
Nonsense |
17/38 |
- |
1 |
18-3131413-A-T |
c.2466T>A |
p.Y822* |
Nonsense |
17/38 |
- |
1 |
18-3131418-C-T |
c.2461G>A |
p.E821K |
Missense |
17/38 |
- |
1 |
18-3131423-A-T |
c.2456T>A |
p.L819H |
Missense |
17/38 |
- |
1 |
18-3131425-TCC-GCT |
c.2452_2454delinsAGC |
p.G818S |
Missense |
17/38 |
- |
1 |
18-3131426-C-G |
c.2453G>C |
p.G818A |
Missense |
17/38 |
- |
1 |
18-3131429-G-A |
c.2450C>T |
p.A817V |
Missense |
17/38 |
- |
1 |
18-3131429-G-T |
c.2450C>A |
p.A817D |
Missense |
17/38 |
- |
1 |
18-3131437-G-A |
c.2442C>T |
p.V814= |
Synonymous |
17/38 |
- |
1 |
18-3131437-G-C |
c.2442C>G |
p.V814= |
Synonymous |
17/38 |
- |
2 |
18-3131437-G-T |
c.2442C>A |
p.V814= |
Synonymous |
17/38 |
- |
1 |
18-3131439-C-A |
c.2440G>T |
p.V814F |
Missense |
17/38 |
- |
1 |
18-3131442-C-T |
c.2437G>A |
p.A813T |
Missense |
17/38 |
- |
1 |
18-3131443-T-C |
c.2436A>G |
p.R812= |
Synonymous |
17/38 |
- |
1 |
18-3131446-G-A |
c.2433C>T |
p.V811= |
Synonymous |
17/38 |
- |
1 |
18-3131446-G-C |
c.2433C>G |
p.V811= |
Synonymous |
17/38 |
- |
1 |
18-3131446-G-T |
c.2433C>A |
p.V811= |
Synonymous |
17/38 |
- |
1 |
18-3131450-C-T |
c.2429G>A |
p.R810Q |
Missense |
17/38 |
- |
2 |
18-3131451-G-A |
c.2428C>T |
p.R810W |
Missense |
17/38 |
- |
2 |
18-3131452-G-A |
c.2427C>T |
p.F809= |
Synonymous |
17/38 |
- |
1 |
18-3131469-C-G |
c.2410G>C |
p.G804R |
Missense |
17/38 |
- |
1 |
18-3131469-C-T |
c.2410G>A |
p.G804S |
Missense |
17/38 |
- |
5 |
18-3131473-C-A |
c.2406G>T |
p.V802= |
Synonymous |
17/38 |
- |
1 |
18-3131473-C-G |
c.2406G>C |
p.V802= |
Synonymous |
17/38 |
- |
1 |
18-3131473-C-T |
c.2406G>A |
p.V802= |
Synonymous |
17/38 |
- |
1 |
18-3131475-C-A |
c.2404G>T |
p.V802L |
Missense |
17/38 |
- |
3 |
18-3131475-C-G |
c.2404G>C |
p.V802L |
Missense |
17/38 |
- |
2 |
18-3131480-C-T |
c.2399G>A |
p.G800E |
Missense |
17/38 |
- |
4 |
18-3134481-T-C |
c.2384+167A>G |
- |
IntronicSNV |
- |
16/37 |
2 |
18-3134555-T-A |
c.2384+93A>T |
- |
IntronicSNV |
- |
16/37 |
3 |
18-3134610-A-G |
c.2384+38T>C |
- |
IntronicSNV |
- |
16/37 |
7 |
18-3134644-T-A |
c.2384+4A>T |
- |
IntronicSNV |
- |
16/37 |
1 |
18-3134647-C-T |
c.2384+1G>A |
- |
IntronicSNV |
- |
16/37 |
1 |
18-3134649-G-A |
c.2383C>T |
p.R795* |
Nonsense |
16/38 |
- |
2 |
18-3134652-A-T |
c.2380T>A |
p.S794T |
Missense |
16/38 |
- |
2 |
18-3134655-C-T |
c.2377G>A |
p.G793S |
Missense |
16/38 |
- |
3 |
18-3134662-G-A |
c.2370C>T |
p.P790= |
Synonymous |
16/38 |
- |
5 |
18-3134662-G-C |
c.2370C>G |
p.P790= |
Synonymous |
16/38 |
- |
3 |
18-3134662-G-T |
c.2370C>A |
p.P790= |
Synonymous |
16/38 |
- |
3 |
18-3134663-G-A |
c.2369C>T |
p.P790L |
Missense |
16/38 |
- |
4 |
18-3134665-G-C |
c.2367C>G |
p.N789K |
Missense |
16/38 |
- |
1 |
18-3134669-T-C |
c.2363A>G |
p.N788S |
Missense |
16/38 |
- |
6 |
18-3134677-G-T |
c.2355C>A |
p.P785= |
Synonymous |
16/38 |
- |
1 |
18-3134678-G-A |
c.2354C>T |
p.P785L |
Missense |
16/38 |
- |
3 |
18-3134683-C-T |
c.2349G>A |
p.W783* |
Nonsense |
16/38 |
- |
1 |
18-3134684-C-G |
c.2348G>C |
p.W783S |
Missense |
16/38 |
- |
1 |
18-3134685-A-C |
c.2347T>G |
p.W783G |
Missense |
16/38 |
- |
1 |
18-3134697-C-A |
c.2335G>T |
p.G779C |
Missense |
16/38 |
- |
1 |
18-3134697-C-T |
c.2335G>A |
p.G779S |
Missense |
16/38 |
- |
2 |
18-3134703-C-T |
c.2329G>A |
p.V777I |
Missense |
16/38 |
- |
1 |
18-3134707-C-A |
c.2325G>T |
p.A775= |
Synonymous |
16/38 |
- |
3 |
18-3134707-C-G |
c.2325G>C |
p.A775= |
Synonymous |
16/38 |
- |
1 |
18-3134707-C-T |
c.2325G>A |
p.A775= |
Synonymous |
16/38 |
- |
1 |
18-3134708-G-T |
c.2324C>A |
p.A775E |
Missense |
16/38 |
- |
3 |
18-3134709-C-A |
c.2323G>T |
p.A775S |
Missense |
16/38 |
- |
1 |
18-3134719-G-C |
c.2313C>G |
p.Y771* |
Nonsense |
16/38 |
- |
1 |
18-3134722-C-A |
c.2310G>T |
p.G770= |
Synonymous |
16/38 |
- |
3 |
18-3134722-C-G |
c.2310G>C |
p.G770= |
Synonymous |
16/38 |
- |
1 |
18-3134722-C-T |
c.2310G>A |
p.G770= |
Synonymous |
16/38 |
- |
1 |
18-3134725-GAC-CAT |
c.2305_2307delinsATG |
p.V769M |
Missense |
16/38 |
- |
1 |
18-3134736-T-G |
c.2296A>C |
p.K766Q |
Missense |
16/38 |
- |
1 |
18-3134756-C-A |
c.2276G>T |
p.W759L |
Missense |
16/38 |
- |
1 |
18-3134758-C-T |
c.2274G>A |
p.S758= |
Synonymous |
16/38 |
- |
2 |
18-3134759-G-A |
c.2273C>T |
p.S758L |
Missense |
16/38 |
- |
9 |
18-3134766-C-T |
c.2266G>A |
p.V756I |
Missense |
16/38 |
- |
1 |
18-3134771-G-A |
c.2261C>T |
p.S754L |
Missense |
16/38 |
- |
2 |
18-3134784-T-C |
c.2248A>G |
p.N750D |
Missense |
16/38 |
- |
1 |
18-3134806-A-G |
c.2226T>C |
p.P742= |
Synonymous |
16/38 |
- |
1 |
18-3134808-G-A |
c.2224C>T |
p.P742S |
Missense |
16/38 |
- |
4 |
18-3134810-G-A |
c.2222C>T |
p.A741V |
Missense |
16/38 |
- |
1 |
18-3134811-C-G |
c.2221G>C |
p.A741P |
Missense |
16/38 |
- |
1 |
18-3134818-G-A |
c.2214C>T |
p.I738= |
Synonymous |
16/38 |
- |
3 |
18-3134822-T-A |
c.2210A>T |
p.D737V |
Missense |
16/38 |
- |
1 |
18-3134826-A-C |
c.2210-4T>G |
- |
IntronicSNV |
- |
15/37 |
1 |
18-3135096-T-A |
c.2210-274A>T |
- |
IntronicSNV |
- |
15/37 |
1 |
18-3135096-T-C |
c.2210-274A>G |
- |
IntronicSNV |
- |
15/37 |
1 |
18-3135502-T-A |
c.2209+43A>T |
- |
IntronicSNV |
- |
15/37 |
1 |
18-3135547-A-C |
c.2207T>G |
p.L736R |
Missense |
15/38 |
- |
1 |
18-3135548-G-A |
c.2206C>T |
p.L736F |
Missense |
15/38 |
- |
1 |
18-3135555-C-T |
c.2199G>A |
p.G733= |
Synonymous |
15/38 |
- |
1 |
18-3135553-T-TC |
c.2200dup |
p.D734Gfs*4 |
Frameshift |
15/38 |
- |
1 |
18-3135560-C-G |
c.2194G>C |
p.V732L |
Missense |
15/38 |
- |
1 |
18-3135560-C-T |
c.2194G>A |
p.V732I |
Missense |
15/38 |
- |
2 |
18-3135565-G-T |
c.2189C>A |
p.T730N |
Missense |
15/38 |
- |
1 |
18-3135567-C-A |
c.2187G>T |
p.V729= |
Synonymous |
15/38 |
- |
2 |
18-3135567-C-G |
c.2187G>C |
p.V729= |
Synonymous |
15/38 |
- |
1 |
18-3135567-C-T |
c.2187G>A |
p.V729= |
Synonymous |
15/38 |
- |
1 |
18-3135569-C-T |
c.2185G>A |
p.V729M |
Missense |
15/38 |
- |
1 |
18-3135573-C-A |
c.2181G>T |
p.T727= |
Synonymous |
15/38 |
- |
2 |
18-3135573-C-G |
c.2181G>C |
p.T727= |
Synonymous |
15/38 |
- |
2 |
18-3135573-C-T |
c.2181G>A |
p.T727= |
Synonymous |
15/38 |
- |
2 |
18-3135575-T-C |
c.2179A>G |
p.T727A |
Missense |
15/38 |
- |
5 |
18-3135582-T-G |
c.2172A>C |
p.S724= |
Synonymous |
15/38 |
- |
1 |
18-3135593-C-T |
c.2161G>A |
p.G721S |
Missense |
15/38 |
- |
1 |
18-3135598-C-T |
c.2156G>A |
p.G719E |
Missense |
15/38 |
- |
2 |
18-3135599-C-G |
c.2155G>C |
p.G719R |
Missense |
15/38 |
- |
1 |
18-3135599-C-T |
c.2155G>A |
p.G719R |
Missense |
15/38 |
- |
1 |
18-3135610-G-A |
c.2144C>T |
p.S715F |
Missense |
15/38 |
- |
1 |
18-3135610-GA-AG |
c.2143_2144delinsCT |
p.S715L |
Missense |
15/38 |
- |
1 |
18-3135611-A-C |
c.2143T>G |
p.S715A |
Missense |
15/38 |
- |
3 |
18-3135615-G-A |
c.2139C>T |
p.R713= |
Synonymous |
15/38 |
- |
2 |
18-3135615-G-C |
c.2139C>G |
p.R713= |
Synonymous |
15/38 |
- |
1 |
18-3135615-G-T |
c.2139C>A |
p.R713= |
Synonymous |
15/38 |
- |
1 |
18-3135610-GAACAGCGGACACGGAAACAGTAGGATTTCCCCTCGGCCAAGTCA-G |
c.2100_2143del |
p.D701* |
Frameshift |
15/38 |
- |
1 |
18-3135616-C-A |
c.2138G>T |
p.R713L |
Missense |
15/38 |
- |
4 |
18-3135616-C-T |
c.2138G>A |
p.R713H |
Missense |
15/38 |
- |
1 |
18-3135617-G-A |
c.2137C>T |
p.R713C |
Missense |
15/38 |
- |
7 |
18-3135619-A-G |
c.2135T>C |
p.V712A |
Missense |
15/38 |
- |
1 |
18-3135620-C-G |
c.2134G>C |
p.V712L |
Missense |
15/38 |
- |
1 |
18-3135621-AC-TT |
c.2132_2133delinsAA |
p.R711Q |
Missense |
15/38 |
- |
1 |
18-3135622-C-T |
c.2132G>A |
p.R711H |
Missense |
15/38 |
- |
5 |
18-3135623-G-A |
c.2131C>T |
p.R711C |
Missense |
15/38 |
- |
5 |
18-3135624-G-A |
c.2130C>T |
p.F710= |
Synonymous |
15/38 |
- |
4 |
18-3135628-C-T |
c.2126G>A |
p.C709Y |
Missense |
15/38 |
- |
1 |
18-3135636-T-A |
c.2118A>T |
p.K706N |
Missense |
15/38 |
- |
1 |
18-3135636-T-G |
c.2118A>C |
p.K706N |
Missense |
15/38 |
- |
1 |
18-3135644-C-A |
c.2110G>T |
p.E704* |
Nonsense |
15/38 |
- |
1 |
18-3135644-C-T |
c.2110G>A |
p.E704K |
Missense |
15/38 |
- |
7 |
18-3135647-C-A |
c.2107G>T |
p.A703S |
Missense |
15/38 |
- |
1 |
18-3135667-C-T |
c.2087G>A |
p.R696H |
Missense |
15/38 |
- |
3 |
18-3135668-G-A |
c.2086C>T |
p.R696C |
Missense |
15/38 |
- |
2 |
18-3135668-G-C |
c.2086C>G |
p.R696G |
Missense |
15/38 |
- |
3 |
18-3135668-G-T |
c.2086C>A |
p.R696S |
Missense |
15/38 |
- |
1 |
18-3135667-CG-C |
c.2086del |
p.R696Afs*34 |
Frameshift |
15/38 |
- |
1 |
18-3135673-G-A |
c.2081C>T |
p.S694F |
Missense |
15/38 |
- |
1 |
18-3135681-A-C |
c.2073T>G |
p.P691= |
Synonymous |
15/38 |
- |
1 |
18-3135681-A-G |
c.2073T>C |
p.P691= |
Synonymous |
15/38 |
- |
1 |
18-3135681-A-T |
c.2073T>A |
p.P691= |
Synonymous |
15/38 |
- |
1 |
18-3135683-G-A |
c.2071C>T |
p.P691S |
Missense |
15/38 |
- |
4 |
18-3135690-C-T |
c.2064G>A |
p.T688= |
Synonymous |
15/38 |
- |
1 |
18-3135691-G-A |
c.2063C>T |
p.T688M |
Missense |
15/38 |
- |
1 |
18-3135692-T-A |
c.2062A>T |
p.T688S |
Missense |
15/38 |
- |
7 |
18-3135700-C-T |
c.2054G>A |
p.R685Q |
Missense |
15/38 |
- |
3 |
18-3135708-G-C |
c.2046C>G |
p.N682K |
Missense |
15/38 |
- |
1 |
18-3135708-G-T |
c.2046C>A |
p.N682K |
Missense |
15/38 |
- |
1 |
18-3135711-T-C |
c.2043A>G |
p.E681= |
Synonymous |
15/38 |
- |
1 |
18-3135713-C-G |
c.2041G>C |
p.E681Q |
Missense |
15/38 |
- |
1 |
18-3135715-G-A |
c.2039C>T |
p.T680I |
Missense |
15/38 |
- |
1 |
18-3135721-G-A |
c.2033C>T |
p.A678V |
Missense |
15/38 |
- |
3 |
18-3135723-C-T |
c.2031G>A |
p.E677= |
Synonymous |
15/38 |
- |
1 |
18-3138553-A-G |
c.2026-2825T>C |
- |
IntronicSNV |
- |
14/37 |
1 |
18-3141689-G-A |
c.2025+248C>T |
- |
IntronicSNV |
- |
14/37 |
1 |
18-3141939-T-C |
c.2023A>G |
p.K675E |
Missense |
14/38 |
- |
3 |
18-3141942-C-A |
c.2020G>T |
p.E674* |
Nonsense |
14/38 |
- |
1 |
18-3141943-C-T |
c.2019G>A |
p.V673= |
Synonymous |
14/38 |
- |
2 |
18-3141949-G-C |
c.2013C>G |
p.Y671* |
Nonsense |
14/38 |
- |
1 |
18-3141949-G-T |
c.2013C>A |
p.Y671* |
Nonsense |
14/38 |
- |
1 |
18-3141959-C-G |
c.2003G>C |
p.G668A |
Missense |
14/38 |
- |
1 |
18-3141959-C-T |
c.2003G>A |
p.G668D |
Missense |
14/38 |
- |
2 |
18-3141961-C-A |
c.2001G>T |
p.E667D |
Missense |
14/38 |
- |
1 |
18-3141961-C-T |
c.2001G>A |
p.E667= |
Synonymous |
14/38 |
- |
3 |
18-3141964-A-G |
c.1998T>C |
p.H666= |
Synonymous |
14/38 |
- |
1 |
18-3141969-C-G |
c.1993G>C |
p.G665R |
Missense |
14/38 |
- |
1 |
18-3141971-C-T |
c.1991G>A |
p.R664H |
Missense |
14/38 |
- |
3 |
18-3141972-G-A |
c.1990C>T |
p.R664C |
Missense |
14/38 |
- |
1 |
18-3141978-C-A |
c.1984G>T |
p.G662C |
Missense |
14/38 |
- |
1 |
18-3141978-C-CG |
c.1983_1984insC |
p.G662Rfs*6 |
Frameshift |
14/38 |
- |
1 |
18-3141979-CAGG-C |
c.1981_1983del |
p.P661del |
InFrameDeletion |
14/38 |
- |
1 |
18-3141981-G-A |
c.1981C>T |
p.P661S |
Missense |
14/38 |
- |
1 |
18-3141982-G-A |
c.1980C>T |
p.P660= |
Synonymous |
14/38 |
- |
2 |
18-3141983-G-A |
c.1979C>T |
p.P660L |
Missense |
14/38 |
- |
1 |
18-3141984-G-C |
c.1978C>G |
p.P660A |
Missense |
14/38 |
- |
5 |
18-3141985-C-T |
c.1977G>A |
p.K659= |
Synonymous |
14/38 |
- |
1 |
18-3141991-G-A |
c.1971C>T |
p.S657= |
Synonymous |
14/38 |
- |
1 |
18-3141997-C-T |
c.1965G>A |
p.V655= |
Synonymous |
14/38 |
- |
1 |
18-3141999-C-A |
c.1963G>T |
p.V655L |
Missense |
14/38 |
- |
1 |
18-3142000-C-T |
c.1962G>A |
p.V654= |
Synonymous |
14/38 |
- |
1 |
18-3142010-CG-GT |
c.1951_1952delinsAC |
p.R651T |
Missense |
14/38 |
- |
1 |
18-3142010-C-T |
c.1952G>A |
p.R651Q |
Missense |
14/38 |
- |
1 |
18-3142011-G-A |
c.1951C>T |
p.R651W |
Missense |
14/38 |
- |
2 |
18-3142012-G-A |
c.1950C>T |
p.T650= |
Synonymous |
14/38 |
- |
1 |
18-3142012-G-C |
c.1950C>G |
p.T650= |
Synonymous |
14/38 |
- |
1 |
18-3142012-G-T |
c.1950C>A |
p.T650= |
Synonymous |
14/38 |
- |
1 |
18-3142015-GG-CT |
c.1946_1947delinsAG |
p.A649E |
Missense |
14/38 |
- |
1 |
18-3142029-A-T |
c.1933T>A |
p.S645T |
Missense |
14/38 |
- |
1 |
18-3142030-G-A |
c.1932C>T |
p.L644= |
Synonymous |
14/38 |
- |
1 |
18-3142030-G-C |
c.1932C>G |
p.L644= |
Synonymous |
14/38 |
- |
1 |
18-3142030-G-T |
c.1932C>A |
p.L644= |
Synonymous |
14/38 |
- |
1 |
18-3142038-T-A |
c.1924A>T |
p.T642S |
Missense |
14/38 |
- |
1 |
18-3142039-C-T |
c.1923G>A |
p.P641= |
Synonymous |
14/38 |
- |
1 |
18-3142040-G-A |
c.1922C>T |
p.P641L |
Missense |
14/38 |
- |
1 |
18-3142040-G-T |
c.1922C>A |
p.P641Q |
Missense |
14/38 |
- |
3 |
18-3142044-G-A |
c.1918C>T |
p.P640S |
Missense |
14/38 |
- |
2 |
18-3142039-C-CG |
c.1922dup |
p.T642Dfs*7 |
Frameshift |
14/38 |
- |
1 |
18-3142039-CG-C |
c.1922del |
p.P641Rfs*46 |
Frameshift |
14/38 |
- |
2 |
18-3142053-C-A |
c.1909G>T |
p.V637L |
Missense |
14/38 |
- |
2 |
18-3142053-C-G |
c.1909G>C |
p.V637L |
Missense |
14/38 |
- |
1 |
18-3142063-T-C |
c.1901-2A>G |
- |
IntronicSNV |
- |
13/37 |
1 |
18-3147909-GA-G |
c.1900+1233del |
- |
IntronicDeletion |
- |
13/37 |
1 |
18-3149140-T-G |
c.1900+3A>C |
- |
IntronicSNV |
- |
13/37 |
3 |
18-3149142-C-T |
c.1900+1G>A |
- |
IntronicSNV |
- |
13/37 |
1 |
18-3149143-C-A |
c.1900G>T |
p.E634* |
Nonsense |
13/38 |
- |
1 |
18-3149150-T-C |
c.1893A>G |
p.E631= |
Synonymous |
13/38 |
- |
2 |
18-3149152-C-T |
c.1891G>A |
p.E631K |
Missense |
13/38 |
- |
1 |
18-3149153-C-A |
c.1890G>T |
p.E630D |
Missense |
13/38 |
- |
1 |
18-3149153-C-G |
c.1890G>C |
p.E630D |
Missense |
13/38 |
- |
1 |
18-3149153-C-T |
c.1890G>A |
p.E630= |
Synonymous |
13/38 |
- |
2 |
18-3149159-A-C |
c.1884T>G |
p.T628= |
Synonymous |
13/38 |
- |
1 |
18-3149159-A-G |
c.1884T>C |
p.T628= |
Synonymous |
13/38 |
- |
1 |
18-3149159-A-T |
c.1884T>A |
p.T628= |
Synonymous |
13/38 |
- |
1 |
18-3149161-T-C |
c.1882A>G |
p.T628A |
Missense |
13/38 |
- |
1 |
18-3149163-AC-TA |
c.1879_1880delinsTA |
p.V627Y |
Missense |
13/38 |
- |
1 |
18-3149164-C-T |
c.1879G>A |
p.V627I |
Missense |
13/38 |
- |
1 |
18-3149165-A-G |
c.1878T>C |
p.I626= |
Synonymous |
13/38 |
- |
2 |
18-3149169-A-G |
c.1874T>C |
p.I625T |
Missense |
13/38 |
- |
1 |
18-3149171-C-A |
c.1872G>T |
p.Q624H |
Missense |
13/38 |
- |
1 |
18-3149171-C-G |
c.1872G>C |
p.Q624H |
Missense |
13/38 |
- |
1 |
18-3149174-T-A |
c.1869A>T |
p.G623= |
Synonymous |
13/38 |
- |
2 |
18-3149174-T-C |
c.1869A>G |
p.G623= |
Synonymous |
13/38 |
- |
1 |
18-3149174-T-G |
c.1869A>C |
p.G623= |
Synonymous |
13/38 |
- |
1 |
18-3149177-AG-CT |
c.1865_1866inv |
p.T622K |
Missense |
13/38 |
- |
1 |
18-3149178-GT-AC |
c.1864_1865inv |
p.T622V |
Missense |
13/38 |
- |
1 |
18-3149181-C-T |
c.1862G>A |
p.W621* |
Nonsense |
13/38 |
- |
1 |
18-3149185-G-A |
c.1858C>T |
p.P620S |
Missense |
13/38 |
- |
2 |
18-3149187-G-A |
c.1856C>T |
p.A619V |
Missense |
13/38 |
- |
1 |
18-3149194-G-A |
c.1849C>T |
p.P617S |
Missense |
13/38 |
- |
2 |
18-3149194-G-C |
c.1849C>G |
p.P617A |
Missense |
13/38 |
- |
1 |
18-3149196-C-T |
c.1847G>A |
p.R616H |
Missense |
13/38 |
- |
2 |
18-3151682-A-C |
c.1843+10T>G |
- |
IntronicSNV |
- |
12/37 |
1 |
18-3151698-G-A |
c.1837C>T |
p.L613F |
Missense |
12/38 |
- |
1 |
18-3151703-G-A |
c.1832C>T |
p.A611V |
Missense |
12/38 |
- |
1 |
18-3151707-T-C |
c.1828A>G |
p.K610E |
Missense |
12/38 |
- |
1 |
18-3151719-C-T |
c.1816G>A |
p.D606N |
Missense |
12/38 |
- |
1 |
18-3151721-A-T |
c.1814T>A |
p.L605Q |
Missense |
12/38 |
- |
1 |
18-3151722-G-A |
c.1813C>T |
p.L605= |
Synonymous |
12/38 |
- |
1 |
18-3151723-A-C |
c.1812T>G |
p.A604= |
Synonymous |
12/38 |
- |
1 |
18-3151723-A-G |
c.1812T>C |
p.A604= |
Synonymous |
12/38 |
- |
1 |
18-3151723-A-T |
c.1812T>A |
p.A604= |
Synonymous |
12/38 |
- |
2 |
18-3151729-C-T |
c.1806G>A |
p.V602= |
Synonymous |
12/38 |
- |
1 |
18-3151731-C-T |
c.1804G>A |
p.V602M |
Missense |
12/38 |
- |
3 |
18-3151733-G-C |
c.1802C>G |
p.P601R |
Missense |
12/38 |
- |
3 |
18-3151734-G-A |
c.1801C>T |
p.P601S |
Missense |
12/38 |
- |
1 |
18-3151736-T-A |
c.1799A>T |
p.E600V |
Missense |
12/38 |
- |
6 |
18-3151737-C-A |
c.1798G>T |
p.E600* |
Nonsense |
12/38 |
- |
1 |
18-3151739-GA-AG |
c.1795_1796delinsCT |
p.S599L |
Missense |
12/38 |
- |
1 |
18-3151739-G-T |
c.1796C>A |
p.S599Y |
Missense |
12/38 |
- |
1 |
18-3151742-A-C |
c.1793T>G |
p.V598G |
Missense |
12/38 |
- |
1 |
18-3151742-AC-TA |
c.1792_1793delinsTA |
p.V598Y |
Missense |
12/38 |
- |
1 |
18-3151743-C-G |
c.1792G>C |
p.V598L |
Missense |
12/38 |
- |
1 |
18-3151745-C-T |
c.1790G>A |
p.R597Q |
Missense |
12/38 |
- |
1 |
18-3151746-G-A |
c.1789C>T |
p.R597* |
Nonsense |
12/38 |
- |
1 |
18-3151751-G-A |
c.1784C>T |
p.P595L |
Missense |
12/38 |
- |
2 |
18-3151752-G-A |
c.1783C>T |
p.P595S |
Missense |
12/38 |
- |
1 |
18-3151753-G-A |
c.1782C>T |
p.F594= |
Synonymous |
12/38 |
- |
4 |
18-3151757-C-T |
c.1778G>A |
p.G593D |
Missense |
12/38 |
- |
1 |
18-3151763-C-A |
c.1772G>T |
p.G591V |
Missense |
12/38 |
- |
1 |
18-3151763-C-T |
c.1772G>A |
p.G591E |
Missense |
12/38 |
- |
2 |
18-3151764-C-G |
c.1771G>C |
p.G591R |
Missense |
12/38 |
- |
1 |
18-3151764-C-T |
c.1771G>A |
p.G591R |
Missense |
12/38 |
- |
1 |
18-3151765-C-T |
c.1770G>A |
p.M590I |
Missense |
12/38 |
- |
1 |
18-3151766-A-G |
c.1769T>C |
p.M590T |
Missense |
12/38 |
- |
2 |
18-3151772-T-C |
c.1763A>G |
p.N588S |
Missense |
12/38 |
- |
1 |
18-3151774-C-A |
c.1761G>T |
p.V587= |
Synonymous |
12/38 |
- |
1 |
18-3151774-CAC-GAT |
c.1759_1761delinsATC |
p.V587I |
Missense |
12/38 |
- |
1 |
18-3151774-C-G |
c.1761G>C |
p.V587= |
Synonymous |
12/38 |
- |
1 |
18-3151774-C-T |
c.1761G>A |
p.V587= |
Synonymous |
12/38 |
- |
1 |
18-3151778-G-A |
c.1757C>T |
p.A586V |
Missense |
12/38 |
- |
1 |
18-3151781-C-T |
c.1754G>A |
p.R585Q |
Missense |
12/38 |
- |
1 |
18-3151782-G-A |
c.1753C>T |
p.R585* |
Nonsense |
12/38 |
- |
9 |
18-3151787-C-G |
c.1748G>C |
p.R583P |
Missense |
12/38 |
- |
1 |
18-3151788-G-A |
c.1747C>T |
p.R583* |
Nonsense |
12/38 |
- |
1 |
18-3151797-A-C |
c.1738T>G |
p.Y580D |
Missense |
12/38 |
- |
1 |
18-3151799-G-A |
c.1736C>T |
p.S579F |
Missense |
12/38 |
- |
3 |
18-3151802-C-A |
c.1733G>T |
p.R578L |
Missense |
12/38 |
- |
1 |
18-3151802-C-T |
c.1733G>A |
p.R578H |
Missense |
12/38 |
- |
1 |
18-3151803-G-A |
c.1732C>T |
p.R578C |
Missense |
12/38 |
- |
1 |
18-3151805-C-T |
c.1730G>A |
p.G577D |
Missense |
12/38 |
- |
1 |
18-3151806-C-T |
c.1729G>A |
p.G577S |
Missense |
12/38 |
- |
1 |
18-3151807-T-A |
c.1728A>T |
p.E576D |
Missense |
12/38 |
- |
1 |
18-3151807-T-G |
c.1728A>C |
p.E576D |
Missense |
12/38 |
- |
1 |
18-3151809-C-T |
c.1726G>A |
p.E576K |
Missense |
12/38 |
- |
1 |
18-3151810-G-T |
c.1725C>A |
p.I575= |
Synonymous |
12/38 |
- |
1 |
18-3151817-C-G |
c.1718G>C |
p.G573A |
Missense |
12/38 |
- |
1 |
18-3151820-G-A |
c.1715C>T |
p.T572I |
Missense |
12/38 |
- |
1 |
18-3151831-A-C |
c.1704T>G |
p.R568= |
Synonymous |
12/38 |
- |
1 |
18-3151831-AC-TT |
c.1703_1704delinsAA |
p.R568Q |
Missense |
12/38 |
- |
1 |
18-3151831-A-G |
c.1704T>C |
p.R568= |
Synonymous |
12/38 |
- |
1 |
18-3151831-A-T |
c.1704T>A |
p.R568= |
Synonymous |
12/38 |
- |
1 |
18-3151832-C-T |
c.1703G>A |
p.R568H |
Missense |
12/38 |
- |
4 |
18-3151833-G-A |
c.1702C>T |
p.R568C |
Missense |
12/38 |
- |
1 |
18-3151845-C-T |
c.1690G>A |
p.V564M |
Missense |
12/38 |
- |
1 |
18-3151858-G-A |
c.1677C>T |
p.C559= |
Synonymous |
12/38 |
- |
1 |
18-3151865-G-T |
c.1670C>A |
p.S557* |
Nonsense |
12/38 |
- |
1 |
18-3151867-C-T |
c.1668G>A |
p.W556* |
Nonsense |
12/38 |
- |
1 |
18-3151868-C-T |
c.1667G>A |
p.W556* |
Nonsense |
12/38 |
- |
1 |
18-3151871-C-G |
c.1664G>C |
p.S555T |
Missense |
12/38 |
- |
1 |
18-3151871-C-T |
c.1664G>A |
p.S555N |
Missense |
12/38 |
- |
1 |
18-3151880-C-T |
c.1655G>A |
p.G552D |
Missense |
12/38 |
- |
2 |
18-3151896-A-T |
c.1644-5T>A |
- |
IntronicSNV |
- |
11/37 |
1 |
18-3152450-A-G |
c.1644-559T>C |
- |
IntronicSNV |
- |
11/37 |
1 |
18-3154945-T-G |
c.1643A>C |
p.K548T |
Missense |
11/38 |
- |
1 |
18-3154948-ATC-A |
c.1639_1640del |
p.D547* |
Frameshift |
11/38 |
- |
1 |
18-3154948-T-G |
c.1640A>C |
p.D547A |
Missense |
11/38 |
- |
1 |
18-3154949-C-G |
c.1639G>C |
p.D547H |
Missense |
11/38 |
- |
1 |
18-3154949-C-T |
c.1639G>A |
p.D547N |
Missense |
11/38 |
- |
1 |
18-3154953-A-G |
c.1635T>C |
p.F545= |
Synonymous |
11/38 |
- |
1 |
18-3154956-A-C |
c.1632T>G |
p.Y544* |
Nonsense |
11/38 |
- |
1 |
18-3154956-A-T |
c.1632T>A |
p.Y544* |
Nonsense |
11/38 |
- |
1 |
18-3154960-C-A |
c.1628G>T |
p.G543V |
Missense |
11/38 |
- |
1 |
18-3154961-C-T |
c.1627G>A |
p.G543R |
Missense |
11/38 |
- |
1 |
18-3154962-G-A |
c.1626C>T |
p.L542= |
Synonymous |
11/38 |
- |
2 |
18-3154964-G-T |
c.1624C>A |
p.L542I |
Missense |
11/38 |
- |
2 |
18-3154976-C-G |
c.1612G>C |
p.G538R |
Missense |
11/38 |
- |
1 |
18-3154976-C-T |
c.1612G>A |
p.G538R |
Missense |
11/38 |
- |
2 |
18-3154978-C-A |
c.1610G>T |
p.G537V |
Missense |
11/38 |
- |
1 |
18-3154978-C-T |
c.1610G>A |
p.G537E |
Missense |
11/38 |
- |
1 |
18-3154982-C-T |
c.1606G>A |
p.D536N |
Missense |
11/38 |
- |
1 |
18-3154983-G-A |
c.1605C>T |
p.V535= |
Synonymous |
11/38 |
- |
1 |
18-3154985-C-T |
c.1603G>A |
p.V535I |
Missense |
11/38 |
- |
1 |
18-3154988-C-T |
c.1600G>A |
p.A534T |
Missense |
11/38 |
- |
1 |
18-3155005-A-G |
c.1583T>C |
p.I528T |
Missense |
11/38 |
- |
2 |
18-3155010-G-A |
c.1578C>T |
p.I526= |
Synonymous |
11/38 |
- |
1 |
18-3155010-G-T |
c.1578C>A |
p.I526= |
Synonymous |
11/38 |
- |
1 |
18-3155018-C-T |
c.1570G>A |
p.D524N |
Missense |
11/38 |
- |
1 |
18-3155020-T-C |
c.1568A>G |
p.K523R |
Missense |
11/38 |
- |
1 |
18-3155022-G-C |
c.1566C>G |
p.N522K |
Missense |
11/38 |
- |
1 |
18-3155022-G-T |
c.1566C>A |
p.N522K |
Missense |
11/38 |
- |
2 |
18-3155030-C-T |
c.1558G>A |
p.E520K |
Missense |
11/38 |
- |
1 |
18-3155037-C-T |
c.1551G>A |
p.K517= |
Synonymous |
11/38 |
- |
3 |
18-3155045-C-T |
c.1543G>A |
p.D515N |
Missense |
11/38 |
- |
3 |
18-3155050-G-A |
c.1538C>T |
p.P513L |
Missense |
11/38 |
- |
1 |
18-3155051-G-A |
c.1537C>T |
p.P513S |
Missense |
11/38 |
- |
2 |
18-3155060-G-A |
c.1528C>T |
p.P510S |
Missense |
11/38 |
- |
1 |
18-3155065-C-T |
c.1523G>A |
p.G508E |
Missense |
11/38 |
- |
8 |
18-3155074-T-G |
c.1514A>C |
p.E505A |
Missense |
11/38 |
- |
2 |
18-3155075-C-G |
c.1513G>C |
p.E505Q |
Missense |
11/38 |
- |
1 |
18-3155081-C-T |
c.1507G>A |
p.D503N |
Missense |
11/38 |
- |
1 |
18-3156061-G-A |
c.1502-975C>T |
- |
IntronicSNV |
- |
10/37 |
1 |
18-3159908-C-T |
c.1501+4368G>A |
- |
IntronicSNV |
- |
10/37 |
1 |
18-3159917-T-C |
c.1501+4359A>G |
- |
IntronicSNV |
- |
10/37 |
1 |
18-3160100-C-T |
c.1501+4176G>A |
- |
IntronicSNV |
- |
10/37 |
1 |
18-3162390-A-G |
c.1501+1886T>C |
- |
IntronicSNV |
- |
10/37 |
1 |
18-3163771-C-T |
c.1501+505G>A |
- |
IntronicSNV |
- |
10/37 |
1 |
18-3163821-T-C |
c.1501+455A>G |
- |
IntronicSNV |
- |
10/37 |
1 |
18-3163820-CT-C |
c.1501+455del |
- |
IntronicDeletion |
- |
10/37 |
1 |
18-3164003-G-A |
c.1501+273C>T |
- |
IntronicSNV |
- |
10/37 |
1 |
18-3164018-T-C |
c.1501+258A>G |
- |
IntronicSNV |
- |
10/37 |
1 |
18-3164019-C-A |
c.1501+257G>T |
- |
IntronicSNV |
- |
10/37 |
1 |
18-3164026-A-T |
c.1501+250T>A |
- |
IntronicSNV |
- |
10/37 |
1 |
18-3164026-A-AT |
c.1501+249dup |
- |
IntronicInsertion |
- |
10/37 |
1 |
18-3164129-A-G |
c.1501+147T>C |
- |
IntronicSNV |
- |
10/37 |
2 |
18-3164279-G-A |
c.1498C>T |
p.R500* |
Nonsense |
10/38 |
- |
7 |
18-3164290-T-A |
c.1487A>T |
p.Y496F |
Missense |
10/38 |
- |
1 |
18-3164294-C-G |
c.1483G>C |
p.A495P |
Missense |
10/38 |
- |
1 |
18-3164295-A-C |
c.1482T>G |
p.S494R |
Missense |
10/38 |
- |
1 |
18-3164306-C-A |
c.1471G>T |
p.E491* |
Nonsense |
10/38 |
- |
1 |
18-3164308-T-C |
c.1469A>G |
p.Y490C |
Missense |
10/38 |
- |
1 |
18-3164312-A-AT |
c.1464dup |
p.Y489Ifs*3 |
Frameshift |
10/38 |
- |
1 |
18-3164315-C-T |
c.1462G>A |
p.E488K |
Missense |
10/38 |
- |
4 |
18-3164320-A-G |
c.1457T>C |
p.M486T |
Missense |
10/38 |
- |
1 |
18-3164322-CC-AT |
c.1454_1455delinsAT |
p.R485H |
Missense |
10/38 |
- |
1 |
18-3164322-CCG-GAT |
c.1453_1455delinsATC |
p.R485I |
Missense |
10/38 |
- |
1 |
18-3164322-C-G |
c.1455G>C |
p.R485= |
Synonymous |
10/38 |
- |
2 |
18-3164322-C-T |
c.1455G>A |
p.R485= |
Synonymous |
10/38 |
- |
1 |
18-3164323-C-T |
c.1454G>A |
p.R485Q |
Missense |
10/38 |
- |
2 |
18-3164324-G-A |
c.1453C>T |
p.R485W |
Missense |
10/38 |
- |
4 |
18-3164329-C-T |
c.1448G>A |
p.R483H |
Missense |
10/38 |
- |
1 |
18-3164330-G-A |
c.1447C>T |
p.R483C |
Missense |
10/38 |
- |
2 |
18-3164330-G-C |
c.1447C>G |
p.R483G |
Missense |
10/38 |
- |
1 |
18-3164331-G-A |
c.1446C>T |
p.I482= |
Synonymous |
10/38 |
- |
1 |
18-3164333-T-A |
c.1444A>T |
p.I482F |
Missense |
10/38 |
- |
1 |
18-3164335-G-C |
c.1442C>G |
p.T481R |
Missense |
10/38 |
- |
1 |
18-3164339-A-C |
c.1438T>G |
p.Y480D |
Missense |
10/38 |
- |
1 |
18-3164339-A-G |
c.1438T>C |
p.Y480H |
Missense |
10/38 |
- |
1 |
18-3164342-G-A |
c.1435C>T |
p.L479F |
Missense |
10/38 |
- |
1 |
18-3164344-C-A |
c.1433G>T |
p.G478V |
Missense |
10/38 |
- |
1 |
18-3164344-C-T |
c.1433G>A |
p.G478D |
Missense |
10/38 |
- |
1 |
18-3164365-TG-T |
c.1411del |
p.H471Ifs*46 |
Frameshift |
10/38 |
- |
1 |
18-3164368-G-A |
c.1409C>T |
p.S470F |
Missense |
10/38 |
- |
5 |
18-3164383-G-T |
c.1394C>A |
p.A465E |
Missense |
10/38 |
- |
1 |
18-3164385-C-T |
c.1392G>A |
p.R464= |
Synonymous |
10/38 |
- |
6 |
18-3164387-G-A |
c.1390C>T |
p.R464W |
Missense |
10/38 |
- |
4 |
18-3164389-T-A |
c.1388A>T |
p.E463V |
Missense |
10/38 |
- |
1 |
18-3164390-C-T |
c.1387G>A |
p.E463K |
Missense |
10/38 |
- |
1 |
18-3164392-C-T |
c.1385G>A |
p.G462E |
Missense |
10/38 |
- |
2 |
18-3164393-C-A |
c.1384G>T |
p.G462* |
Nonsense |
10/38 |
- |
1 |
18-3164393-C-G |
c.1384G>C |
p.G462R |
Missense |
10/38 |
- |
1 |
18-3164393-C-T |
c.1384G>A |
p.G462R |
Missense |
10/38 |
- |
1 |
18-3164399-A-T |
c.1378T>A |
p.W460R |
Missense |
10/38 |
- |
1 |
18-3164400-A-G |
c.1377T>C |
p.L459= |
Synonymous |
10/38 |
- |
2 |
18-3164401-A-T |
c.1376T>A |
p.L459H |
Missense |
10/38 |
- |
1 |
18-3164407-T-C |
c.1370A>G |
p.Q457R |
Missense |
10/38 |
- |
1 |
18-3164409-CA-GT |
c.1367_1368delinsAC |
p.V456D |
Missense |
10/38 |
- |
1 |
18-3164415-T-C |
c.1362A>G |
p.K454= |
Synonymous |
10/38 |
- |
1 |
18-3164419-G-A |
c.1358C>T |
p.S453L |
Missense |
10/38 |
- |
2 |
18-3164425-G-A |
c.1352C>T |
p.S451F |
Missense |
10/38 |
- |
1 |
18-3164425-GA-AG |
c.1351_1352delinsCT |
p.S451L |
Missense |
10/38 |
- |
1 |
18-3164427-A-C |
c.1350T>G |
p.L450= |
Synonymous |
10/38 |
- |
1 |
18-3164427-A-G |
c.1350T>C |
p.L450= |
Synonymous |
10/38 |
- |
1 |
18-3164427-A-T |
c.1350T>A |
p.L450= |
Synonymous |
10/38 |
- |
1 |
18-3164435-C-T |
c.1342G>A |
p.V448I |
Missense |
10/38 |
- |
1 |
18-3164436-TC-GT |
c.1340_1341delinsAC |
p.G447D |
Missense |
10/38 |
- |
1 |
18-3164437-C-T |
c.1340G>A |
p.G447E |
Missense |
10/38 |
- |
1 |
18-3164659-G-A |
c.1340-222C>T |
- |
IntronicSNV |
- |
9/37 |
1 |
18-3164670-C-T |
c.1340-233G>A |
- |
IntronicSNV |
- |
9/37 |
1 |
18-3168815-C-G |
c.1339G>C |
p.G447R |
Missense |
9/38 |
- |
1 |
18-3168815-C-T |
c.1339G>A |
p.G447R |
Missense |
9/38 |
- |
1 |
18-3168816-G-A |
c.1338C>T |
p.N446= |
Synonymous |
9/38 |
- |
19 |
18-3168816-G-C |
c.1338C>G |
p.N446K |
Missense |
9/38 |
- |
5 |
18-3168818-T-C |
c.1336A>G |
p.N446D |
Missense |
9/38 |
- |
1 |
18-3168820-C-T |
c.1334G>A |
p.R445K |
Missense |
9/38 |
- |
2 |
18-3168821-T-C |
c.1333A>G |
p.R445G |
Missense |
9/38 |
- |
4 |
18-3168834-TC-T |
c.1320del |
p.I441Sfs*27 |
Frameshift |
9/38 |
- |
1 |
18-3168835-T-C |
c.1319A>G |
p.E440G |
Missense |
9/38 |
- |
2 |
18-3168837-T-A |
c.1317A>T |
p.P439= |
Synonymous |
9/38 |
- |
1 |
18-3168837-T-C |
c.1317A>G |
p.P439= |
Synonymous |
9/38 |
- |
1 |
18-3168837-T-G |
c.1317A>C |
p.P439= |
Synonymous |
9/38 |
- |
1 |
18-3168839-G-C |
c.1315C>G |
p.P439A |
Missense |
9/38 |
- |
1 |
18-3168848-G-A |
c.1306C>T |
p.H436Y |
Missense |
9/38 |
- |
1 |
18-3168850-T-C |
c.1304A>G |
p.K435R |
Missense |
9/38 |
- |
1 |
18-3168858-A-C |
c.1296T>G |
p.P432= |
Synonymous |
9/38 |
- |
1 |
18-3168858-A-G |
c.1296T>C |
p.P432= |
Synonymous |
9/38 |
- |
1 |
18-3168858-A-T |
c.1296T>A |
p.P432= |
Synonymous |
9/38 |
- |
1 |
18-3168860-G-A |
c.1294C>T |
p.P432S |
Missense |
9/38 |
- |
3 |
18-3168860-G-C |
c.1294C>G |
p.P432A |
Missense |
9/38 |
- |
1 |
18-3168864-G-A |
c.1290C>T |
p.I430= |
Synonymous |
9/38 |
- |
1 |
18-3168866-T-A |
c.1288A>T |
p.I430F |
Missense |
9/38 |
- |
1 |
18-3168866-T-C |
c.1288A>G |
p.I430V |
Missense |
9/38 |
- |
1 |
18-3168872-AC-A |
c.1282del |
p.V428Lfs*40 |
Frameshift |
9/38 |
- |
1 |
18-3168873-ACG-TCA |
c.1279_1281delinsTGA |
p.R427* |
Nonsense |
9/38 |
- |
1 |
18-3168874-C-T |
c.1280G>A |
p.R427H |
Missense |
9/38 |
- |
2 |
18-3168875-G-A |
c.1279C>T |
p.R427C |
Missense |
9/38 |
- |
7 |
18-3168878-A-G |
c.1276T>C |
p.C426R |
Missense |
9/38 |
- |
1 |
18-3168880-C-G |
c.1274G>C |
p.G425A |
Missense |
9/38 |
- |
1 |
18-3168890-T-C |
c.1264A>G |
p.M422V |
Missense |
9/38 |
- |
2 |
18-3168894-C-T |
c.1260G>A |
p.E420= |
Synonymous |
9/38 |
- |
1 |
18-3168896-C-T |
c.1258G>A |
p.E420K |
Missense |
9/38 |
- |
2 |
18-3168906-CCC-GCT |
c.1246_1248delinsAGC |
p.G416S |
Missense |
9/38 |
- |
1 |
18-3168909-A-G |
c.1245T>C |
p.F415= |
Synonymous |
9/38 |
- |
2 |
18-3168913-G-A |
c.1241C>T |
p.S414F |
Missense |
9/38 |
- |
2 |
18-3168917-C-T |
c.1237G>A |
p.V413M |
Missense |
9/38 |
- |
1 |
18-3168918-A-T |
c.1236T>A |
p.D412E |
Missense |
9/38 |
- |
1 |
18-3168919-T-C |
c.1235A>G |
p.D412G |
Missense |
9/38 |
- |
1 |
18-3168922-A-C |
c.1232T>G |
p.F411C |
Missense |
9/38 |
- |
3 |
18-3168925-T-G |
c.1229A>C |
p.K410T |
Missense |
9/38 |
- |
2 |
18-3168923-AT-A |
c.1230del |
p.K410Nfs*13 |
Frameshift |
9/38 |
- |
1 |
18-3168928-T-C |
c.1226A>G |
p.D409G |
Missense |
9/38 |
- |
1 |
18-3168934-A-G |
c.1220T>C |
p.F407S |
Missense |
9/38 |
- |
1 |
18-3168945-A-C |
c.1209T>G |
p.F403L |
Missense |
9/38 |
- |
1 |
18-3168945-A-T |
c.1209T>A |
p.F403L |
Missense |
9/38 |
- |
1 |
18-3168947-A-G |
c.1207T>C |
p.F403L |
Missense |
9/38 |
- |
1 |
18-3168949-C-T |
c.1205G>A |
p.R402Q |
Missense |
9/38 |
- |
1 |
18-3168950-G-A |
c.1204C>T |
p.R402W |
Missense |
9/38 |
- |
2 |
18-3168956-C-G |
c.1198G>C |
p.A400P |
Missense |
9/38 |
- |
1 |
18-3168962-C-T |
c.1192G>A |
p.G398S |
Missense |
9/38 |
- |
2 |
18-3168968-G-A |
c.1186C>T |
p.P396S |
Missense |
9/38 |
- |
4 |
18-3168969-G-C |
c.1185C>G |
p.T395= |
Synonymous |
9/38 |
- |
1 |
18-3168970-G-T |
c.1184C>A |
p.T395N |
Missense |
9/38 |
- |
1 |
18-3168975-AC-A |
c.1178del |
p.G393Vfs*2 |
Frameshift |
9/38 |
- |
1 |
18-3168979-A-G |
c.1175T>C |
p.F392S |
Missense |
9/38 |
- |
1 |
18-3169070-C-A |
c.1175-91G>T |
- |
IntronicSNV |
- |
8/37 |
2 |
18-3169123-G-A |
c.1175-144C>T |
- |
IntronicSNV |
- |
8/37 |
2 |
18-3169126-C-A |
c.1175-147G>T |
- |
IntronicSNV |
- |
8/37 |
2 |
18-3169126-C-T |
c.1175-147G>A |
- |
IntronicSNV |
- |
8/37 |
2 |
18-3173816-C-T |
c.1174+120G>A |
- |
IntronicSNV |
- |
8/37 |
2 |
18-3173873-G-A |
c.1174+63C>T |
- |
IntronicSNV |
- |
8/37 |
4 |
18-3173935-C-G |
c.1174+1G>C |
- |
IntronicSNV |
- |
8/37 |
1 |
18-3173942-G-A |
c.1168C>T |
p.L390F |
Missense |
8/38 |
- |
1 |
18-3173945-G-A |
c.1165C>T |
p.P389S |
Missense |
8/38 |
- |
1 |
18-3173950-G-A |
c.1160C>T |
p.T387I |
Missense |
8/38 |
- |
2 |
18-3173953-G-A |
c.1157C>T |
p.S386F |
Missense |
8/38 |
- |
1 |
18-3173957-C-A |
c.1153G>T |
p.A385S |
Missense |
8/38 |
- |
1 |
18-3173949-GGTGGAAGCCCCAGC-G |
c.1147_1160del |
p.A383Hfs*17 |
Frameshift |
8/38 |
- |
1 |
18-3173958-C-A |
c.1152G>T |
p.G384= |
Synonymous |
8/38 |
- |
1 |
18-3173958-C-G |
c.1152G>C |
p.G384= |
Synonymous |
8/38 |
- |
1 |
18-3173958-C-T |
c.1152G>A |
p.G384= |
Synonymous |
8/38 |
- |
1 |
18-3173959-C-A |
c.1151G>T |
p.G384V |
Missense |
8/38 |
- |
1 |
18-3173959-C-T |
c.1151G>A |
p.G384E |
Missense |
8/38 |
- |
3 |
18-3173964-G-A |
c.1146C>T |
p.H382= |
Synonymous |
8/38 |
- |
15 |
18-3173964-G-T |
c.1146C>A |
p.H382Q |
Missense |
8/38 |
- |
4 |
18-3173967-G-A |
c.1143C>T |
p.F381= |
Synonymous |
8/38 |
- |
1 |
18-3173971-C-A |
c.1139G>T |
p.R380L |
Missense |
8/38 |
- |
1 |
18-3173972-G-A |
c.1138C>T |
p.R380C |
Missense |
8/38 |
- |
2 |
18-3173972-G-T |
c.1138C>A |
p.R380S |
Missense |
8/38 |
- |
1 |
18-3173973-A-C |
c.1137T>G |
p.T379= |
Synonymous |
8/38 |
- |
1 |
18-3173973-A-G |
c.1137T>C |
p.T379= |
Synonymous |
8/38 |
- |
1 |
18-3173973-A-T |
c.1137T>A |
p.T379= |
Synonymous |
8/38 |
- |
1 |
18-3173974-G-A |
c.1136C>T |
p.T379I |
Missense |
8/38 |
- |
1 |
18-3173976-C-A |
c.1134G>T |
p.E378D |
Missense |
8/38 |
- |
1 |
18-3173976-C-G |
c.1134G>C |
p.E378D |
Missense |
8/38 |
- |
1 |
18-3173977-T-C |
c.1133A>G |
p.E378G |
Missense |
8/38 |
- |
1 |
18-3173978-C-T |
c.1132G>A |
p.E378K |
Missense |
8/38 |
- |
1 |
18-3173985-C-A |
c.1125G>T |
p.E375D |
Missense |
8/38 |
- |
1 |
18-3173985-C-G |
c.1125G>C |
p.E375D |
Missense |
8/38 |
- |
1 |
18-3173987-C-G |
c.1123G>C |
p.E375Q |
Missense |
8/38 |
- |
1 |
18-3173988-T-A |
c.1122A>T |
p.G374= |
Synonymous |
8/38 |
- |
2 |
18-3173988-T-C |
c.1122A>G |
p.G374= |
Synonymous |
8/38 |
- |
2 |
18-3173988-T-G |
c.1122A>C |
p.G374= |
Synonymous |
8/38 |
- |
2 |
18-3173989-C-G |
c.1121G>C |
p.G374A |
Missense |
8/38 |
- |
3 |
18-3173990-C-A |
c.1120G>T |
p.G374* |
Nonsense |
8/38 |
- |
1 |
18-3173990-C-T |
c.1120G>A |
p.G374R |
Missense |
8/38 |
- |
2 |
18-3173992-T-G |
c.1118A>C |
p.K373T |
Missense |
8/38 |
- |
3 |
18-3174018-C-A |
c.1112-20G>T |
- |
IntronicSNV |
- |
7/37 |
6 |
18-3174018-C-T |
c.1112-20G>A |
- |
IntronicSNV |
- |
7/37 |
6 |
18-3174056-C-A |
c.1112-58G>T |
- |
IntronicSNV |
- |
7/37 |
7 |
18-3174064-G-T |
c.1111+54C>A |
- |
IntronicSNV |
- |
7/37 |
8 |
18-3174116-A-G |
c.1111+2T>C |
- |
IntronicSNV |
- |
7/37 |
1 |
18-3174125-C-A |
c.1104G>T |
p.V368= |
Synonymous |
7/38 |
- |
1 |
18-3174136-C-A |
c.1093G>T |
p.A365S |
Missense |
7/38 |
- |
1 |
18-3174142-C-G |
c.1087G>C |
p.A363P |
Missense |
7/38 |
- |
1 |
18-3174144-G-A |
c.1085C>T |
p.S362L |
Missense |
7/38 |
- |
4 |
18-3174146-A-C |
c.1083T>G |
p.L361= |
Synonymous |
7/38 |
- |
1 |
18-3174146-A-G |
c.1083T>C |
p.L361= |
Synonymous |
7/38 |
- |
1 |
18-3174146-A-T |
c.1083T>A |
p.L361= |
Synonymous |
7/38 |
- |
1 |
18-3174152-T-A |
c.1077A>T |
p.G359= |
Synonymous |
7/38 |
- |
1 |
18-3174152-T-C |
c.1077A>G |
p.G359= |
Synonymous |
7/38 |
- |
1 |
18-3174152-T-G |
c.1077A>C |
p.G359= |
Synonymous |
7/38 |
- |
1 |
18-3174162-T-C |
c.1067A>G |
p.N356S |
Missense |
7/38 |
- |
1 |
18-3174167-C-A |
c.1062G>T |
p.A354= |
Synonymous |
7/38 |
- |
1 |
18-3174167-C-G |
c.1062G>C |
p.A354= |
Synonymous |
7/38 |
- |
1 |
18-3174167-C-T |
c.1062G>A |
p.A354= |
Synonymous |
7/38 |
- |
1 |
18-3174170-C-A |
c.1059G>T |
p.S353= |
Synonymous |
7/38 |
- |
1 |
18-3174170-C-G |
c.1059G>C |
p.S353= |
Synonymous |
7/38 |
- |
1 |
18-3174170-C-T |
c.1059G>A |
p.S353= |
Synonymous |
7/38 |
- |
1 |
18-3174171-G-A |
c.1058C>T |
p.S353L |
Missense |
7/38 |
- |
3 |
18-3174173-G-A |
c.1056C>T |
p.A352= |
Synonymous |
7/38 |
- |
1 |
18-3174173-G-C |
c.1056C>G |
p.A352= |
Synonymous |
7/38 |
- |
1 |
18-3174173-G-T |
c.1056C>A |
p.A352= |
Synonymous |
7/38 |
- |
1 |
18-3174174-G-A |
c.1055C>T |
p.A352V |
Missense |
7/38 |
- |
1 |
18-3174177-C-T |
c.1052G>A |
p.R351Q |
Missense |
7/38 |
- |
3 |
18-3174178-G-A |
c.1051C>T |
p.R351W |
Missense |
7/38 |
- |
3 |
18-3174184-G-T |
c.1045C>A |
p.Q349K |
Missense |
7/38 |
- |
1 |
18-3174189-G-A |
c.1040C>T |
p.T347I |
Missense |
7/38 |
- |
2 |
18-3174189-G-C |
c.1040C>G |
p.T347R |
Missense |
7/38 |
- |
4 |
18-3174193-C-T |
c.1036G>A |
p.D346N |
Missense |
7/38 |
- |
1 |
18-3174196-C-A |
c.1033G>T |
p.E345* |
Nonsense |
7/38 |
- |
1 |
18-3174197-A-C |
c.1032T>G |
p.F344L |
Missense |
7/38 |
- |
1 |
18-3174197-A-T |
c.1032T>A |
p.F344L |
Missense |
7/38 |
- |
1 |
18-3174199-A-G |
c.1030T>C |
p.F344L |
Missense |
7/38 |
- |
1 |
18-3174200-A-G |
c.1029T>C |
p.D343= |
Synonymous |
7/38 |
- |
1 |
18-3174220-C-A |
c.1023-14G>T |
- |
IntronicSNV |
- |
6/37 |
1 |
18-3174220-C-T |
c.1023-14G>A |
- |
IntronicSNV |
- |
6/37 |
1 |
18-3174238-G-A |
c.1023-32C>T |
- |
IntronicSNV |
- |
6/37 |
1 |
18-3174413-G-A |
c.1023-207C>T |
- |
IntronicSNV |
- |
6/37 |
1 |
18-3175997-C-G |
c.1022+43G>C |
- |
IntronicSNV |
- |
6/37 |
1 |
18-3176017-C-T |
c.1022+23G>A |
- |
IntronicSNV |
- |
6/37 |
6 |
18-3176040-C-A |
c.1022G>T |
p.G341V |
Missense |
6/38 |
- |
5 |
18-3176040-C-G |
c.1022G>C |
p.G341A |
Missense |
6/38 |
- |
34 |
18-3176040-C-T |
c.1022G>A |
p.G341E |
Missense |
6/38 |
- |
5 |
18-3176047-T-C |
c.1015A>G |
p.I339V |
Missense |
6/38 |
- |
1 |
18-3176051-C-A |
c.1011G>T |
p.L337= |
Synonymous |
6/38 |
- |
1 |
18-3176051-C-G |
c.1011G>C |
p.L337= |
Synonymous |
6/38 |
- |
1 |
18-3176051-C-T |
c.1011G>A |
p.L337= |
Synonymous |
6/38 |
- |
1 |
18-3176053-G-A |
c.1009C>T |
p.L337= |
Synonymous |
6/38 |
- |
2 |
18-3176061-A-C |
c.1001T>G |
p.M334R |
Missense |
6/38 |
- |
1 |
18-3176063-C-T |
c.999G>A |
p.G333= |
Synonymous |
6/38 |
- |
16 |
18-3176069-T-G |
c.993A>C |
p.R331= |
Synonymous |
6/38 |
- |
1 |
18-3176070-C-T |
c.992G>A |
p.R331Q |
Missense |
6/38 |
- |
1 |
18-3176073-C-T |
c.989G>A |
p.S330N |
Missense |
6/38 |
- |
1 |
18-3176077-CAAT-C |
c.982_984del |
p.I328del |
InFrameDeletion |
6/38 |
- |
2 |
18-3176092-C-G |
c.970G>C |
p.G324R |
Missense |
6/38 |
- |
1 |
18-3176094-G-C |
c.968C>G |
p.P323R |
Missense |
6/38 |
- |
1 |
18-3176095-G-A |
c.967C>T |
p.P323S |
Missense |
6/38 |
- |
2 |
18-3176100-G-A |
c.962C>T |
p.A321V |
Missense |
6/38 |
- |
1 |
18-3176102-A-T |
c.960T>A |
p.H320Q |
Missense |
6/38 |
- |
1 |
18-3176104-G-A |
c.958C>T |
p.H320Y |
Missense |
6/38 |
- |
2 |
18-3176113-T-C |
c.949A>G |
p.I317V |
Missense |
6/38 |
- |
1 |
18-3176122-G-C |
c.940C>G |
p.Q314E |
Missense |
6/38 |
- |
1 |
18-3176132-C-A |
c.930G>T |
p.W310C |
Missense |
6/38 |
- |
1 |
18-3176377-G-A |
c.930-245C>T |
- |
IntronicSNV |
- |
5/37 |
1 |
18-3183354-T-C |
c.929+4124A>G |
- |
IntronicSNV |
- |
5/37 |
1 |
18-3185322-C-T |
c.929+2156G>A |
- |
IntronicSNV |
- |
5/37 |
1 |
18-3187423-A-G |
c.929+55T>C |
- |
IntronicSNV |
- |
5/37 |
1 |
18-3187481-G-A |
c.926C>T |
p.T309M |
Missense |
5/38 |
- |
2 |
18-3187483-GAC-CAT |
c.922_924delinsATG |
p.V308M |
Missense |
5/38 |
- |
1 |
18-3187487-C-G |
c.920G>C |
p.R307P |
Missense |
5/38 |
- |
3 |
18-3187488-G-A |
c.919C>T |
p.R307C |
Missense |
5/38 |
- |
5 |
18-3187488-G-T |
c.919C>A |
p.R307S |
Missense |
5/38 |
- |
2 |
18-3187492-T-A |
c.915A>T |
p.E305D |
Missense |
5/38 |
- |
3 |
18-3187492-T-G |
c.915A>C |
p.E305D |
Missense |
5/38 |
- |
2 |
18-3187493-T-G |
c.914A>C |
p.E305A |
Missense |
5/38 |
- |
1 |
18-3187496-G-A |
c.911C>T |
p.P304L |
Missense |
5/38 |
- |
1 |
18-3187497-G-A |
c.910C>T |
p.P304S |
Missense |
5/38 |
- |
1 |
18-3187502-C-T |
c.905G>A |
p.G302D |
Missense |
5/38 |
- |
7 |
18-3187503-C-T |
c.904G>A |
p.G302S |
Missense |
5/38 |
- |
1 |
18-3187509-T-C |
c.898A>G |
p.I300V |
Missense |
5/38 |
- |
1 |
18-3187510-G-A |
c.897C>T |
p.S299= |
Synonymous |
5/38 |
- |
2 |
18-3187512-A-G |
c.895T>C |
p.S299P |
Missense |
5/38 |
- |
1 |
18-3187514-CA-GT |
c.892_893delinsAC |
p.C298T |
Missense |
5/38 |
- |
1 |
18-3187525-T-A |
c.882A>T |
p.V294= |
Synonymous |
5/38 |
- |
1 |
18-3187529-T-C |
c.878A>G |
p.N293S |
Missense |
5/38 |
- |
1 |
18-3187531-C-A |
c.876G>T |
p.E292D |
Missense |
5/38 |
- |
1 |
18-3187531-C-G |
c.876G>C |
p.E292D |
Missense |
5/38 |
- |
1 |
18-3187531-C-T |
c.876G>A |
p.E292= |
Synonymous |
5/38 |
- |
1 |
18-3187533-C-A |
c.874G>T |
p.E292* |
Nonsense |
5/38 |
- |
2 |
18-3187533-C-T |
c.874G>A |
p.E292K |
Missense |
5/38 |
- |
1 |
18-3187533-CCTT-C |
c.871_873del |
p.K291del |
InFrameDeletion |
5/38 |
- |
1 |
18-3187541-C-T |
c.866G>A |
p.W289* |
Nonsense |
5/38 |
- |
1 |
18-3187543-AAC-CAT |
c.862_864delinsATG |
p.V288M |
Missense |
5/38 |
- |
1 |
18-3187545-C-T |
c.862G>A |
p.V288I |
Missense |
5/38 |
- |
1 |
18-3187546-C-A |
c.861G>T |
p.T287= |
Synonymous |
5/38 |
- |
1 |
18-3187553-G-A |
c.854C>T |
p.S285F |
Missense |
5/38 |
- |
1 |
18-3187556-C-A |
c.851G>T |
p.R284L |
Missense |
5/38 |
- |
1 |
18-3187556-C-T |
c.851G>A |
p.R284H |
Missense |
5/38 |
- |
1 |
18-3187557-G-C |
c.850C>G |
p.R284G |
Missense |
5/38 |
- |
1 |
18-3187561-T-C |
c.846A>G |
p.K282= |
Synonymous |
5/38 |
- |
1 |
18-3187567-G-A |
c.840C>T |
p.I280= |
Synonymous |
5/38 |
- |
1 |
18-3187567-G-T |
c.840C>A |
p.I280= |
Synonymous |
5/38 |
- |
1 |
18-3187571-A-G |
c.836T>C |
p.F279S |
Missense |
5/38 |
- |
1 |
18-3187572-A-C |
c.835T>G |
p.F279V |
Missense |
5/38 |
- |
1 |
18-3187572-A-G |
c.835T>C |
p.F279L |
Missense |
5/38 |
- |
2 |
18-3187575-C-G |
c.832G>C |
p.E278Q |
Missense |
5/38 |
- |
1 |
18-3187575-C-T |
c.832G>A |
p.E278K |
Missense |
5/38 |
- |
1 |
18-3187581-C-T |
c.826G>A |
p.A276T |
Missense |
5/38 |
- |
2 |
18-3187585-G-A |
c.822C>T |
p.L274= |
Synonymous |
5/38 |
- |
5 |
18-3187585-G-C |
c.822C>G |
p.L274= |
Synonymous |
5/38 |
- |
2 |
18-3187585-G-T |
c.822C>A |
p.L274= |
Synonymous |
5/38 |
- |
2 |
18-3187605-G-A |
c.802C>T |
p.L268= |
Synonymous |
5/38 |
- |
1 |
18-3187606-C-T |
c.801G>A |
p.K267= |
Synonymous |
5/38 |
- |
2 |
18-3187610-GC-CA |
c.796_797delinsTG |
p.A266C |
Missense |
5/38 |
- |
1 |
18-3187611-C-CA |
c.795dup |
p.A266Cfs*5 |
Frameshift |
5/38 |
- |
2 |
18-3187612-A-C |
c.795T>G |
p.H265Q |
Missense |
5/38 |
- |
2 |
18-3187612-A-T |
c.795T>A |
p.H265Q |
Missense |
5/38 |
- |
2 |
18-3187624-G-A |
c.783C>T |
p.T261= |
Synonymous |
5/38 |
- |
2 |
18-3187624-G-C |
c.783C>G |
p.T261= |
Synonymous |
5/38 |
- |
1 |
18-3187624-G-T |
c.783C>A |
p.T261= |
Synonymous |
5/38 |
- |
2 |
18-3187627-T-A |
c.780A>T |
p.E260D |
Missense |
5/38 |
- |
1 |
18-3187627-T-G |
c.780A>C |
p.E260D |
Missense |
5/38 |
- |
1 |
18-3187632-C-T |
c.775G>A |
p.E259K |
Missense |
5/38 |
- |
1 |
18-3187860-T-C |
c.772-225A>G |
- |
IntronicSNV |
- |
4/37 |
1 |
18-3188613-T-C |
c.771+133A>G |
- |
IntronicSNV |
- |
4/37 |
1 |
18-3188630-AG-A |
c.771+115del |
- |
IntronicDeletion |
- |
4/37 |
1 |
18-3188642-A-G |
c.771+104T>C |
- |
IntronicSNV |
- |
4/37 |
1 |
18-3188664-TACAC-T |
c.771+78_771+81del |
- |
IntronicDeletion |
- |
4/37 |
2 |
18-3188664-TAC-T |
c.771+80_771+81del |
- |
IntronicDeletion |
- |
4/37 |
3 |
18-3188715-T-C |
c.771+31A>G |
- |
IntronicSNV |
- |
4/37 |
1 |
18-3188750-T-G |
c.767A>C |
p.K256T |
Missense |
4/38 |
- |
1 |
18-3188753-C-T |
c.764G>A |
p.R255K |
Missense |
4/38 |
- |
2 |
18-3188753-CT-TA |
c.763_764delinsTA |
p.R255* |
Nonsense |
4/38 |
- |
1 |
18-3188754-T-C |
c.763A>G |
p.R255G |
Missense |
4/38 |
- |
1 |
18-3188755-C-A |
c.762G>T |
p.L254= |
Synonymous |
4/38 |
- |
1 |
18-3188755-C-G |
c.762G>C |
p.L254= |
Synonymous |
4/38 |
- |
1 |
18-3188755-C-T |
c.762G>A |
p.L254= |
Synonymous |
4/38 |
- |
1 |
18-3188757-G-A |
c.760C>T |
p.L254= |
Synonymous |
4/38 |
- |
1 |
18-3188758-G-A |
c.759C>T |
p.S253= |
Synonymous |
4/38 |
- |
1 |
18-3188758-G-C |
c.759C>G |
p.S253= |
Synonymous |
4/38 |
- |
4 |
18-3188758-G-T |
c.759C>A |
p.S253= |
Synonymous |
4/38 |
- |
1 |
18-3188759-G-A |
c.758C>T |
p.S253F |
Missense |
4/38 |
- |
3 |
18-3188762-AG-TA |
c.754_755delinsTA |
p.L252* |
Nonsense |
4/38 |
- |
1 |
18-3188763-G-C |
c.754C>G |
p.L252V |
Missense |
4/38 |
- |
4 |
18-3188769-C-T |
c.748G>A |
p.E250K |
Missense |
4/38 |
- |
1 |
18-3188772-C-T |
c.745G>A |
p.A249T |
Missense |
4/38 |
- |
1 |
18-3188778-C-T |
c.739G>A |
p.E247K |
Missense |
4/38 |
- |
8 |
18-3188779-TCG-ACA |
c.736_738delinsTGT |
p.R246C |
Missense |
4/38 |
- |
1 |
18-3188780-C-G |
c.737G>C |
p.R246P |
Missense |
4/38 |
- |
2 |
18-3188780-C-T |
c.737G>A |
p.R246Q |
Missense |
4/38 |
- |
5 |
18-3188781-G-A |
c.736C>T |
p.R246* |
Nonsense |
4/38 |
- |
3 |
18-3188794-C-A |
c.723G>T |
p.R241S |
Missense |
4/38 |
- |
1 |
18-3188794-C-G |
c.723G>C |
p.R241S |
Missense |
4/38 |
- |
1 |
18-3188794-C-T |
c.723G>A |
p.R241= |
Synonymous |
4/38 |
- |
2 |
18-3188795-C-T |
c.722G>A |
p.R241K |
Missense |
4/38 |
- |
1 |
18-3188796-T-A |
c.721A>T |
p.R241W |
Missense |
4/38 |
- |
1 |
18-3188808-C-A |
c.709G>T |
p.E237* |
Nonsense |
4/38 |
- |
2 |
18-3188808-C-T |
c.709G>A |
p.E237K |
Missense |
4/38 |
- |
3 |
18-3188810-GA-CC |
c.706_707delinsGG |
p.S236G |
Missense |
4/38 |
- |
1 |
18-3188817-C-G |
c.700G>C |
p.E234Q |
Missense |
4/38 |
- |
3 |
18-3188817-C-T |
c.700G>A |
p.E234K |
Missense |
4/38 |
- |
1 |
18-3188820-C-A |
c.697G>T |
p.E233* |
Nonsense |
4/38 |
- |
2 |
18-3188826-G-C |
c.691C>G |
p.Q231E |
Missense |
4/38 |
- |
2 |
18-3188831-G-A |
c.686C>T |
p.A229V |
Missense |
4/38 |
- |
2 |
18-3188832-C-T |
c.685G>A |
p.A229T |
Missense |
4/38 |
- |
2 |
18-3188834-G-C |
c.683C>G |
p.S228C |
Missense |
4/38 |
- |
1 |
18-3188836-TG-CA |
c.680_681inv |
p.T227M |
Missense |
4/38 |
- |
1 |
18-3188839-G-A |
c.678C>T |
p.A226= |
Synonymous |
4/38 |
- |
1 |
18-3188839-G-C |
c.678C>G |
p.A226= |
Synonymous |
4/38 |
- |
1 |
18-3188839-G-T |
c.678C>A |
p.A226= |
Synonymous |
4/38 |
- |
1 |
18-3188840-G-A |
c.677C>T |
p.A226V |
Missense |
4/38 |
- |
1 |
18-3188841-C-A |
c.676G>T |
p.A226S |
Missense |
4/38 |
- |
1 |
18-3188841-C-T |
c.676G>A |
p.A226T |
Missense |
4/38 |
- |
2 |
18-3188844-G-A |
c.673C>T |
p.Q225* |
Nonsense |
4/38 |
- |
1 |
18-3188857-A-G |
c.660T>C |
p.S220= |
Synonymous |
4/38 |
- |
3 |
18-3188864-C-T |
c.653G>A |
p.R218K |
Missense |
4/38 |
- |
1 |
18-3188868-A-T |
c.649T>A |
p.S217T |
Missense |
4/38 |
- |
1 |
18-3188872-C-T |
c.645G>A |
p.T215= |
Synonymous |
4/38 |
- |
1 |
18-3188873-G-A |
c.644C>T |
p.T215M |
Missense |
4/38 |
- |
11 |
18-3188875-G-A |
c.642C>T |
p.S214= |
Synonymous |
4/38 |
- |
3 |
18-3188875-G-C |
c.642C>G |
p.S214= |
Synonymous |
4/38 |
- |
2 |
18-3188875-G-T |
c.642C>A |
p.S214= |
Synonymous |
4/38 |
- |
2 |
18-3188876-G-A |
c.641C>T |
p.S214F |
Missense |
4/38 |
- |
3 |
18-3188877-A-G |
c.640T>C |
p.S214P |
Missense |
4/38 |
- |
2 |
18-3188880-G-T |
c.637C>A |
p.Q213K |
Missense |
4/38 |
- |
1 |
18-3188879-TGCCTGGATGCCGTGGACTGCTTGGATGCTGTGGACTGCTTGGATGCCGTGGACTGCTTA-T |
c.579_637del |
p.K194Vfs*24 |
InFrameDeletion |
4/38 |
- |
1 |
18-3188881-C-T |
c.636G>A |
p.R212= |
Synonymous |
4/38 |
- |
1 |
18-3188883-T-G |
c.634A>C |
p.R212= |
Synonymous |
4/38 |
- |
1 |
18-3188857-AGACTGCCTGGATGCCGTG-A |
c.642_659del |
p.T215_S220del |
InFrameDeletion |
4/38 |
- |
1 |
18-3188882-C-A |
c.635G>T |
p.R212M |
Missense |
4/38 |
- |
2 |
18-3188882-C-G |
c.635G>C |
p.R212T |
Missense |
4/38 |
- |
1 |
18-3188882-C-T |
c.635G>A |
p.R212K |
Missense |
4/38 |
- |
4 |
18-3188882-C-CTGCTTGCTGTGCTTTGCT |
c.634_635insAGCAAAGCACAGCAAGCA |
p.K206_S211dup |
InFrameInsertion |
4/38 |
- |
1 |
18-3188885-G-A |
c.632C>T |
p.S211F |
Missense |
4/38 |
- |
2 |
18-3188888-G-T |
c.629C>A |
p.A210E |
Missense |
4/38 |
- |
1 |
18-3188889-C-T |
c.628G>A |
p.A210T |
Missense |
4/38 |
- |
6 |
18-3188890-C-A |
c.627G>T |
p.T209= |
Synonymous |
4/38 |
- |
2 |
18-3188890-C-G |
c.627G>C |
p.T209= |
Synonymous |
4/38 |
- |
2 |
18-3188890-C-T |
c.627G>A |
p.T209= |
Synonymous |
4/38 |
- |
3 |
18-3188891-G-A |
c.626C>T |
p.T209M |
Missense |
4/38 |
- |
1 |
18-3188895-A-T |
c.622T>A |
p.S208T |
Missense |
4/38 |
- |
1 |
18-3188897-T-C |
c.620A>G |
p.Q207R |
Missense |
4/38 |
- |
1 |
18-3188897-TGCTTGGATGCTGTGGACTGCTTGGATGCCGTGGACTGCTTAGATGCCGTGGTCTGCTTG-T |
c.561_619del |
p.K188Vfs*30 |
InFrameDeletion |
4/38 |
- |
2 |
18-3188900-T-C |
c.617A>G |
p.K206R |
Missense |
4/38 |
- |
3 |
18-3188901-T-A |
c.616A>T |
p.K206* |
Nonsense |
4/38 |
- |
1 |
18-3188903-G-C |
c.614C>G |
p.S205C |
Missense |
4/38 |
- |
1 |
18-3188906-G-T |
c.611C>A |
p.A204E |
Missense |
4/38 |
- |
1 |
18-3188907-C-A |
c.610G>T |
p.A204S |
Missense |
4/38 |
- |
1 |
18-3188907-C-T |
c.610G>A |
p.A204T |
Missense |
4/38 |
- |
2 |
18-3188908-T-A |
c.609A>T |
p.T203= |
Synonymous |
4/38 |
- |
1 |
18-3188908-T-C |
c.609A>G |
p.T203= |
Synonymous |
4/38 |
- |
3 |
18-3188908-T-G |
c.609A>C |
p.T203= |
Synonymous |
4/38 |
- |
1 |
18-3188909-G-A |
c.608C>T |
p.T203I |
Missense |
4/38 |
- |
1 |
18-3188913-A-T |
c.604T>A |
p.S202T |
Missense |
4/38 |
- |
1 |
18-3188916-G-A |
c.601C>T |
p.Q201* |
Nonsense |
4/38 |
- |
1 |
18-3188918-T-C |
c.599A>G |
p.K200R |
Missense |
4/38 |
- |
1 |
18-3188925-C-T |
c.592G>A |
p.A198T |
Missense |
4/38 |
- |
1 |
18-3188926-C-T |
c.591G>A |
p.T197= |
Synonymous |
4/38 |
- |
1 |
18-3188927-G-A |
c.590C>T |
p.T197M |
Missense |
4/38 |
- |
4 |
18-3188913-ACTGCTTGGATGCCGTGGACTGCTTAGATGCCGTGGT-A |
c.568_603del |
p.T190_Q201del |
InFrameDeletion |
4/38 |
- |
2 |
18-3188937-T-A |
c.580A>T |
p.K194* |
Nonsense |
4/38 |
- |
1 |
18-3188938-A-C |
c.579T>G |
p.S193= |
Synonymous |
4/38 |
- |
1 |
18-3188938-A-G |
c.579T>C |
p.S193= |
Synonymous |
4/38 |
- |
1 |
18-3188938-A-T |
c.579T>A |
p.S193= |
Synonymous |
4/38 |
- |
1 |
18-3188939-G-C |
c.578C>G |
p.S193C |
Missense |
4/38 |
- |
1 |
18-3188940-GA-G |
c.577del |
p.S193Lfs*52 |
Frameshift |
4/38 |
- |
1 |
18-3188943-C-T |
c.574G>A |
p.A192T |
Missense |
4/38 |
- |
1 |
18-3188945-G-A |
c.572C>T |
p.T191M |
Missense |
4/38 |
- |
1 |
18-3188948-G-A |
c.569C>T |
p.T190I |
Missense |
4/38 |
- |
1 |
18-3188948-G-C |
c.569C>G |
p.T190S |
Missense |
4/38 |
- |
1 |
18-3188949-T-A |
c.568A>T |
p.T190S |
Missense |
4/38 |
- |
2 |
18-3188949-T-C |
c.568A>G |
p.T190A |
Missense |
4/38 |
- |
1 |
18-3188950-C-A |
c.567G>T |
p.Q189H |
Missense |
4/38 |
- |
1 |
18-3188950-C-G |
c.567G>C |
p.Q189H |
Missense |
4/38 |
- |
1 |
18-3188951-T-A |
c.566A>T |
p.Q189L |
Missense |
4/38 |
- |
1 |
18-3188953-C-T |
c.564G>A |
p.K188= |
Synonymous |
4/38 |
- |
1 |
18-3188957-G-A |
c.560C>T |
p.S187F |
Missense |
4/38 |
- |
1 |
18-3188960-G-A |
c.557C>T |
p.A186V |
Missense |
4/38 |
- |
1 |
18-3188961-C-T |
c.556G>A |
p.A186T |
Missense |
4/38 |
- |
1 |
18-3188963-G-A |
c.554C>T |
p.T185M |
Missense |
4/38 |
- |
2 |
18-3188966-GA-CC |
c.550_551delinsGG |
p.S184G |
Missense |
4/38 |
- |
1 |
18-3188970-G-C |
c.547C>G |
p.Q183E |
Missense |
4/38 |
- |
1 |
18-3188973-T-C |
c.544A>G |
p.K182E |
Missense |
4/38 |
- |
1 |
18-3188974-A-C |
c.543T>G |
p.S181= |
Synonymous |
4/38 |
- |
1 |
18-3188974-A-G |
c.543T>C |
p.S181= |
Synonymous |
4/38 |
- |
1 |
18-3188974-A-T |
c.543T>A |
p.S181= |
Synonymous |
4/38 |
- |
1 |
18-3188976-A-G |
c.541T>C |
p.S181P |
Missense |
4/38 |
- |
38 |
18-3188978-G-A |
c.539C>T |
p.T180I |
Missense |
4/38 |
- |
3 |
18-3188979-T-C |
c.538A>G |
p.T180A |
Missense |
4/38 |
- |
1 |
18-3188980-TG-GT |
c.536_537delinsAC |
p.T179N |
Missense |
4/38 |
- |
1 |
18-3188981-G-C |
c.536C>G |
p.T179R |
Missense |
4/38 |
- |
1 |
18-3188985-T-C |
c.532A>G |
p.I178V |
Missense |
4/38 |
- |
2 |
18-3188987-C-A |
c.530G>T |
p.G177V |
Missense |
4/38 |
- |
2 |
18-3188987-C-T |
c.530G>A |
p.G177E |
Missense |
4/38 |
- |
4 |
18-3188990-T-C |
c.527A>G |
p.E176G |
Missense |
4/38 |
- |
1 |
18-3188991-C-T |
c.526G>A |
p.E176K |
Missense |
4/38 |
- |
1 |
18-3189006-G-T |
c.511C>A |
p.L171I |
Missense |
4/38 |
- |
1 |
18-3189007-GAT-G |
c.509_510del |
p.N170Tfs*4 |
Frameshift |
4/38 |
- |
1 |
18-3189010-CCT-ACA |
c.505_507delinsTGT |
p.R169C |
Missense |
4/38 |
- |
1 |
18-3189018-C-A |
c.499G>T |
p.A167S |
Missense |
4/38 |
- |
1 |
18-3189030-C-CAGGCTGG |
c.486_487insCCAGCCT |
p.A163Pfs*14 |
Frameshift |
4/38 |
- |
1 |
18-3189036-C-A |
c.481G>T |
p.E161* |
Nonsense |
4/38 |
- |
1 |
18-3189044-CT-TG |
c.472_473delinsCA |
p.R158Q |
Missense |
4/38 |
- |
1 |
18-3189048-C-A |
c.469G>T |
p.E157* |
Nonsense |
4/38 |
- |
1 |
18-3189054-C-T |
c.463G>A |
p.E155K |
Missense |
4/38 |
- |
1 |
18-3189055-CG-GA |
c.461_462delinsTC |
p.T154I |
Missense |
4/38 |
- |
1 |
18-3189055-C-T |
c.462G>A |
p.T154= |
Synonymous |
4/38 |
- |
1 |
18-3189056-G-A |
c.461C>T |
p.T154M |
Missense |
4/38 |
- |
3 |
18-3189059-T-A |
c.458A>T |
p.D153V |
Missense |
4/38 |
- |
1 |
18-3189059-T-C |
c.458A>G |
p.D153G |
Missense |
4/38 |
- |
1 |
18-3189060-C-A |
c.457G>T |
p.D153Y |
Missense |
4/38 |
- |
1 |
18-3189063-T-C |
c.454A>G |
p.T152A |
Missense |
4/38 |
- |
1 |
18-3189065-A-T |
c.452T>A |
p.I151N |
Missense |
4/38 |
- |
1 |
18-3189071-C-T |
c.446G>A |
p.S149N |
Missense |
4/38 |
- |
1 |
18-3189077-T-G |
c.440A>C |
p.H147P |
Missense |
4/38 |
- |
1 |
18-3189084-G-A |
c.433C>T |
p.Q145* |
Nonsense |
4/38 |
- |
1 |
18-3189084-G-T |
c.433C>A |
p.Q145K |
Missense |
4/38 |
- |
1 |
18-3192883-T-A |
c.431+933A>T |
- |
IntronicSNV |
- |
3/37 |
1 |
18-3192962-GT-G |
c.431+853del |
- |
IntronicDeletion |
- |
3/37 |
1 |
18-3193568-G-T |
c.431+248C>A |
- |
IntronicSNV |
- |
3/37 |
1 |
18-3193811-C-G |
c.431+5G>C |
- |
IntronicSNV |
- |
3/37 |
2 |
18-3193816-C-T |
c.431G>A |
p.R144H |
Missense |
3/38 |
- |
1 |
18-3193817-G-A |
c.430C>T |
p.R144C |
Missense |
3/38 |
- |
2 |
18-3193822-G-C |
c.425C>G |
p.S142* |
Nonsense |
3/38 |
- |
3 |
18-3193822-G-T |
c.425C>A |
p.S142* |
Nonsense |
3/38 |
- |
1 |
18-3193823-GA-G |
c.424del |
p.S142Qfs*25 |
Frameshift |
3/38 |
- |
1 |
18-3193831-G-A |
c.416C>T |
p.P139L |
Missense |
3/38 |
- |
1 |
18-3193834-A-T |
c.413T>A |
p.V138E |
Missense |
3/38 |
- |
2 |
18-3193846-C-T |
c.401G>A |
p.S134N |
Missense |
3/38 |
- |
1 |
18-3193846-CT-AA |
c.400_401delinsTT |
p.S134F |
Missense |
3/38 |
- |
1 |
18-3193851-C-CA |
c.395dup |
p.L132Ffs*4 |
Frameshift |
3/38 |
- |
1 |
18-3193870-C-A |
c.377G>T |
p.G126V |
Missense |
3/38 |
- |
1 |
18-3193870-C-T |
c.377G>A |
p.G126E |
Missense |
3/38 |
- |
1 |
18-3193871-C-G |
c.376G>C |
p.G126R |
Missense |
3/38 |
- |
1 |
18-3193871-C-T |
c.376G>A |
p.G126R |
Missense |
3/38 |
- |
1 |
18-3193879-AG-GA |
c.367_368delinsTC |
p.L123S |
Missense |
3/38 |
- |
1 |
18-3193880-G-A |
c.367C>T |
p.L123= |
Synonymous |
3/38 |
- |
1 |
18-3193887-C-A |
c.360G>T |
p.K120N |
Missense |
3/38 |
- |
1 |
18-3193887-C-G |
c.360G>C |
p.K120N |
Missense |
3/38 |
- |
1 |
18-3193891-G-A |
c.356C>T |
p.A119V |
Missense |
3/38 |
- |
1 |
18-3193892-C-A |
c.355G>T |
p.A119S |
Missense |
3/38 |
- |
1 |
18-3193894-CT-TG |
c.352_353delinsCA |
p.R118Q |
Missense |
3/38 |
- |
1 |
18-3193895-T-C |
c.352A>G |
p.R118G |
Missense |
3/38 |
- |
1 |
18-3193899-TGG-AAA |
c.346_348delinsTTT |
p.P116F |
Missense |
3/38 |
- |
1 |
18-3193907-G-A |
c.340C>T |
p.P114S |
Missense |
3/38 |
- |
1 |
18-3193912-A-G |
c.335T>C |
p.L112S |
Missense |
3/38 |
- |
1 |
18-3193911-C-T |
c.336G>A |
p.L112= |
Synonymous |
3/38 |
- |
1 |
18-3193913-A-G |
c.334T>C |
p.L112= |
Synonymous |
3/38 |
- |
1 |
18-3193915-T-C |
c.332A>G |
p.K111R |
Missense |
3/38 |
- |
1 |
18-3193916-T-C |
c.331A>G |
p.K111E |
Missense |
3/38 |
- |
1 |
18-3193928-C-T |
c.319G>A |
p.D107N |
Missense |
3/38 |
- |
2 |
18-3193931-C-T |
c.316G>A |
p.D106N |
Missense |
3/38 |
- |
6 |
18-3193932-T-G |
c.315A>C |
p.L105F |
Missense |
3/38 |
- |
1 |
18-3193933-AA-GG |
c.313_314delinsCC |
p.L105P |
Missense |
3/38 |
- |
1 |
18-3193938-C-A |
c.309G>T |
p.L103= |
Synonymous |
3/38 |
- |
1 |
18-3193938-C-G |
c.309G>C |
p.L103= |
Synonymous |
3/38 |
- |
1 |
18-3193938-C-T |
c.309G>A |
p.L103= |
Synonymous |
3/38 |
- |
1 |
18-3193940-G-A |
c.307C>T |
p.L103= |
Synonymous |
3/38 |
- |
1 |
18-3193939-A-T |
c.308T>A |
p.L103Q |
Missense |
3/38 |
- |
1 |
18-3193940-G-C |
c.307C>G |
p.L103V |
Missense |
3/38 |
- |
1 |
18-3193944-G-A |
c.303C>T |
p.S101= |
Synonymous |
3/38 |
- |
1 |
18-3193944-G-C |
c.303C>G |
p.S101= |
Synonymous |
3/38 |
- |
1 |
18-3193944-G-T |
c.303C>A |
p.S101= |
Synonymous |
3/38 |
- |
1 |
18-3193945-GA-TT |
c.301_302delinsAA |
p.S101N |
Missense |
3/38 |
- |
1 |
18-3193948-T-C |
c.299A>G |
p.D100G |
Missense |
3/38 |
- |
1 |
18-3193949-C-T |
c.298G>A |
p.D100N |
Missense |
3/38 |
- |
1 |
18-3193951-G-T |
c.296C>A |
p.T99K |
Missense |
3/38 |
- |
1 |
18-3193954-AAG-A |
c.292_293del |
p.L98Yfs*9 |
SpliceAcceptorDeletion |
3/38 |
- |
1 |
18-3199084-G-T |
c.291-5128C>A |
- |
IntronicSNV |
- |
2/37 |
1 |
18-3206629-G-A |
c.290+8303C>T |
- |
IntronicSNV |
- |
2/37 |
1 |
18-3208567-C-G |
c.290+6365G>C |
- |
IntronicSNV |
- |
2/37 |
1 |
18-3208669-T-C |
c.290+6263A>G |
- |
IntronicSNV |
- |
2/37 |
1 |
18-3213337-G-T |
c.290+1595C>A |
- |
IntronicSNV |
- |
2/37 |
1 |
18-3214288-C-T |
c.290+644G>A |
- |
IntronicSNV |
- |
2/37 |
1 |
18-3214668-G-A |
c.290+264C>T |
- |
IntronicSNV |
- |
2/37 |
2 |
18-3214668-G-T |
c.290+264C>A |
- |
IntronicSNV |
- |
2/37 |
2 |
18-3214918-G-C |
c.290+14C>G |
- |
IntronicSNV |
- |
2/37 |
6 |
18-3214931-C-A |
c.290+1G>T |
- |
IntronicSNV |
- |
2/37 |
1 |
18-3214932-C-A |
c.290G>T |
p.G97V |
Missense |
2/38 |
- |
2 |
18-3214938-G-A |
c.284C>T |
p.S95F |
Missense |
2/38 |
- |
1 |
18-3214943-G-A |
c.279C>T |
p.G93= |
Synonymous |
2/38 |
- |
1 |
18-3214943-G-C |
c.279C>G |
p.G93= |
Synonymous |
2/38 |
- |
1 |
18-3214943-G-T |
c.279C>A |
p.G93= |
Synonymous |
2/38 |
- |
1 |
18-3214946-A-G |
c.276T>C |
p.Y92= |
Synonymous |
2/38 |
- |
1 |
18-3214947-T-C |
c.275A>G |
p.Y92C |
Missense |
2/38 |
- |
1 |
18-3214951-C-G |
c.271G>C |
p.D91H |
Missense |
2/38 |
- |
1 |
18-3214951-C-T |
c.271G>A |
p.D91N |
Missense |
2/38 |
- |
4 |
18-3214953-T-A |
c.269A>T |
p.Y90F |
Missense |
2/38 |
- |
1 |
18-3214954-A-G |
c.268T>C |
p.Y90H |
Missense |
2/38 |
- |
1 |
18-3214957-C-T |
c.265G>A |
p.A89T |
Missense |
2/38 |
- |
1 |
18-3214959-G-A |
c.263C>T |
p.S88L |
Missense |
2/38 |
- |
1 |
18-3214963-C-G |
c.259G>C |
p.A87P |
Missense |
2/38 |
- |
4 |
18-3214963-C-T |
c.259G>A |
p.A87T |
Missense |
2/38 |
- |
1 |
18-3214966-C-G |
c.256G>C |
p.A86P |
Missense |
2/38 |
- |
1 |
18-3214966-C-T |
c.256G>A |
p.A86T |
Missense |
2/38 |
- |
1 |
18-3214968-T-C |
c.254A>G |
p.K85R |
Missense |
2/38 |
- |
1 |
18-3214970-C-G |
c.252G>C |
p.R84= |
Synonymous |
2/38 |
- |
1 |
18-3214971-C-T |
c.251G>A |
p.R84Q |
Missense |
2/38 |
- |
1 |
18-3214980-T-A |
c.242A>T |
p.E81V |
Missense |
2/38 |
- |
1 |
18-3214981-C-T |
c.241G>A |
p.E81K |
Missense |
2/38 |
- |
2 |
18-3214983-G-A |
c.239C>T |
p.S80F |
Missense |
2/38 |
- |
5 |
18-3214985-G-T |
c.237C>A |
p.S79R |
Missense |
2/38 |
- |
1 |
18-3214986-C-A |
c.236G>T |
p.S79I |
Missense |
2/38 |
- |
1 |
18-3214990-G-A |
c.232C>T |
p.L78= |
Synonymous |
2/38 |
- |
1 |
18-3214999-G-A |
c.223C>T |
p.Q75* |
Nonsense |
2/38 |
- |
1 |
18-3215000-C-T |
c.222G>A |
p.S74= |
Synonymous |
2/38 |
- |
1 |
18-3215001-G-A |
c.221C>T |
p.S74L |
Missense |
2/38 |
- |
2 |
18-3215003-G-A |
c.219C>T |
p.A73= |
Synonymous |
2/38 |
- |
1 |
18-3215003-G-C |
c.219C>G |
p.A73= |
Synonymous |
2/38 |
- |
1 |
18-3215003-G-T |
c.219C>A |
p.A73= |
Synonymous |
2/38 |
- |
1 |
18-3215005-C-G |
c.217G>C |
p.A73P |
Missense |
2/38 |
- |
1 |
18-3215010-T-G |
c.212A>C |
p.Q71P |
Missense |
2/38 |
- |
1 |
18-3215012-C-CT |
c.209dup |
p.Q71Afs*11 |
Frameshift |
2/38 |
- |
1 |
18-3215013-T-A |
c.209A>T |
p.Q70L |
Missense |
2/38 |
- |
3 |
18-3215015-G-A |
c.207C>T |
p.S69= |
Synonymous |
2/38 |
- |
3 |
18-3215016-G-A |
c.206C>T |
p.S69F |
Missense |
2/38 |
- |
2 |
18-3215016-G-T |
c.206C>A |
p.S69Y |
Missense |
2/38 |
- |
3 |
18-3215017-GA-G |
c.205del |
p.S69Pfs*10 |
Frameshift |
2/38 |
- |
1 |
18-3215019-G-A |
c.203C>T |
p.S68F |
Missense |
2/38 |
- |
1 |
18-3215030-C-A |
c.192G>T |
p.A64= |
Synonymous |
2/38 |
- |
5 |
18-3215030-C-G |
c.192G>C |
p.A64= |
Synonymous |
2/38 |
- |
1 |
18-3215030-C-T |
c.192G>A |
p.A64= |
Synonymous |
2/38 |
- |
5 |
18-3215031-G-A |
c.191C>T |
p.A64V |
Missense |
2/38 |
- |
1 |
18-3215031-GC-CT |
c.190_191delinsAG |
p.A64R |
Missense |
2/38 |
- |
1 |
18-3215034-C-T |
c.188G>A |
p.R63Q |
Missense |
2/38 |
- |
6 |
18-3215035-G-A |
c.187C>T |
p.R63W |
Missense |
2/38 |
- |
2 |
18-3215036-A-C |
c.186T>G |
p.R62= |
Synonymous |
2/38 |
- |
2 |
18-3215036-A-G |
c.186T>C |
p.R62= |
Synonymous |
2/38 |
- |
2 |
18-3215036-A-T |
c.186T>A |
p.R62= |
Synonymous |
2/38 |
- |
2 |
18-3215037-C-T |
c.185G>A |
p.R62H |
Missense |
2/38 |
- |
1 |
18-3215038-G-A |
c.184C>T |
p.R62C |
Missense |
2/38 |
- |
5 |
18-3215038-G-C |
c.184C>G |
p.R62G |
Missense |
2/38 |
- |
5 |
18-3215039-G-A |
c.183C>T |
p.F61= |
Synonymous |
2/38 |
- |
3 |
18-3215040-A-C |
c.182T>G |
p.F61C |
Missense |
2/38 |
- |
1 |
18-3215045-C-A |
c.177G>T |
p.E59D |
Missense |
2/38 |
- |
1 |
18-3215046-T-C |
c.176A>G |
p.E59G |
Missense |
2/38 |
- |
1 |
18-3215047-C-T |
c.175G>A |
p.E59K |
Missense |
2/38 |
- |
2 |
18-3215048-G-T |
c.174C>A |
p.S58= |
Synonymous |
2/38 |
- |
1 |
18-3215053-C-T |
c.169G>A |
p.E57K |
Missense |
2/38 |
- |
5 |
18-3215056-G-A |
c.166C>T |
p.R56W |
Missense |
2/38 |
- |
2 |
18-3215057-G-A |
c.165C>T |
p.R55= |
Synonymous |
2/38 |
- |
1 |
18-3215058-C-T |
c.164G>A |
p.R55H |
Missense |
2/38 |
- |
2 |
18-3215059-G-A |
c.163C>T |
p.R55C |
Missense |
2/38 |
- |
1 |
18-3215060-G-C |
c.162C>G |
p.H54Q |
Missense |
2/38 |
- |
1 |
18-3215060-G-T |
c.162C>A |
p.H54Q |
Missense |
2/38 |
- |
1 |
18-3215063-C-T |
c.159G>A |
p.A53= |
Synonymous |
2/38 |
- |
1 |
18-3215064-G-A |
c.158C>T |
p.A53V |
Missense |
2/38 |
- |
2 |
18-3215065-C-T |
c.157G>A |
p.A53T |
Missense |
2/38 |
- |
3 |
18-3215066-GGC-CCA |
c.154_156delinsTGG |
p.A52W |
Missense |
2/38 |
- |
1 |
18-3215068-C-G |
c.154G>C |
p.A52P |
Missense |
2/38 |
- |
1 |
18-3215070-G-A |
c.152C>T |
p.S51F |
Missense |
2/38 |
- |
1 |
18-3215070-GA-TT |
c.151_152delinsAA |
p.S51N |
Missense |
2/38 |
- |
1 |
18-3215072-GG-TT |
c.149_150delinsAA |
p.S50* |
Nonsense |
2/38 |
- |
1 |
18-3215073-GA-TT |
c.148_149delinsAA |
p.S50N |
Missense |
2/38 |
- |
1 |
18-3215075-G-A |
c.147C>T |
p.R49= |
Synonymous |
2/38 |
- |
1 |
18-3215075-G-C |
c.147C>G |
p.R49= |
Synonymous |
2/38 |
- |
1 |
18-3215075-GC-TT |
c.146_147delinsAA |
p.R49Q |
Missense |
2/38 |
- |
1 |
18-3215075-G-T |
c.147C>A |
p.R49= |
Synonymous |
2/38 |
- |
1 |
18-3215076-C-A |
c.146G>T |
p.R49L |
Missense |
2/38 |
- |
1 |
18-3215076-C-T |
c.146G>A |
p.R49H |
Missense |
2/38 |
- |
3 |
18-3215077-G-A |
c.145C>T |
p.R49C |
Missense |
2/38 |
- |
1 |
18-3215083-T-C |
c.139A>G |
p.S47G |
Missense |
2/38 |
- |
8 |
18-3215086-A-G |
c.136T>C |
p.Y46H |
Missense |
2/38 |
- |
1 |
18-3215087-G-A |
c.135C>T |
p.A45= |
Synonymous |
2/38 |
- |
1 |
18-3215087-G-C |
c.135C>G |
p.A45= |
Synonymous |
2/38 |
- |
1 |
18-3215087-G-T |
c.135C>A |
p.A45= |
Synonymous |
2/38 |
- |
1 |
18-3215089-C-T |
c.133G>A |
p.A45T |
Missense |
2/38 |
- |
3 |
18-3215090-C-G |
c.132G>C |
p.T44= |
Synonymous |
2/38 |
- |
1 |
18-3215090-C-T |
c.132G>A |
p.T44= |
Synonymous |
2/38 |
- |
1 |
18-3215091-G-A |
c.131C>T |
p.T44M |
Missense |
2/38 |
- |
1 |
18-3215092-T-C |
c.130A>G |
p.T44A |
Missense |
2/38 |
- |
1 |
18-3215093-G-A |
c.129C>T |
p.S43= |
Synonymous |
2/38 |
- |
1 |
18-3215093-G-C |
c.129C>G |
p.S43= |
Synonymous |
2/38 |
- |
1 |
18-3215093-G-T |
c.129C>A |
p.S43= |
Synonymous |
2/38 |
- |
1 |
18-3215096-G-A |
c.126C>T |
p.G42= |
Synonymous |
2/38 |
- |
2 |
18-3215097-C-A |
c.125G>T |
p.G42V |
Missense |
2/38 |
- |
1 |
18-3215101-G-C |
c.121C>G |
p.Q41E |
Missense |
2/38 |
- |
3 |
18-3215101-G-T |
c.121C>A |
p.Q41K |
Missense |
2/38 |
- |
1 |
18-3215102-G-A |
c.120C>T |
p.T40= |
Synonymous |
2/38 |
- |
1 |
18-3215104-T-C |
c.118A>G |
p.T40A |
Missense |
2/38 |
- |
1 |
18-3215104-T-G |
c.118A>C |
p.T40P |
Missense |
2/38 |
- |
1 |
18-3215110-C-G |
c.112G>C |
p.V38L |
Missense |
2/38 |
- |
1 |
18-3215110-C-T |
c.112G>A |
p.V38I |
Missense |
2/38 |
- |
1 |
18-3215111-G-A |
c.111C>T |
p.A37= |
Synonymous |
2/38 |
- |
1 |
18-3215112-G-A |
c.110C>T |
p.A37V |
Missense |
2/38 |
- |
3 |
18-3215113-C-A |
c.109G>T |
p.A37S |
Missense |
2/38 |
- |
1 |
18-3215113-C-T |
c.109G>A |
p.A37T |
Missense |
2/38 |
- |
7 |
18-3215115-G-A |
c.107C>T |
p.S36F |
Missense |
2/38 |
- |
1 |
18-3215115-GA-AG |
c.106_107delinsCT |
p.S36L |
Missense |
2/38 |
- |
1 |
18-3215119-G-A |
c.103C>T |
p.R35C |
Missense |
2/38 |
- |
2 |
18-3215124-T-G |
c.98A>C |
p.K33T |
Missense |
2/38 |
- |
1 |
18-3215125-T-C |
c.97A>G |
p.K33E |
Missense |
2/38 |
- |
1 |
18-3215125-T-G |
c.97A>C |
p.K33Q |
Missense |
2/38 |
- |
3 |
18-3215127-T-G |
c.95A>C |
p.E32A |
Missense |
2/38 |
- |
1 |
18-3215129-CCG-ACA |
c.91_93delinsTGT |
p.R31C |
Missense |
2/38 |
- |
1 |
18-3215130-C-A |
c.92G>T |
p.R31L |
Missense |
2/38 |
- |
3 |
18-3215130-C-T |
c.92G>A |
p.R31Q |
Missense |
2/38 |
- |
3 |
18-3215131-G-A |
c.91C>T |
p.R31W |
Missense |
2/38 |
- |
1 |
18-3215131-G-C |
c.91C>G |
p.R31G |
Missense |
2/38 |
- |
1 |
18-3215131-G-T |
c.91C>A |
p.R31= |
Synonymous |
2/38 |
- |
4 |
18-3215129-CCGCTGGTAGTGACTCA-C |
c.77_92del |
p.V26Gfs*48 |
Frameshift |
2/38 |
- |
1 |
18-3215132-C-T |
c.90G>A |
p.Q30= |
Synonymous |
2/38 |
- |
1 |
18-3215137-A-G |
c.85T>C |
p.Y29H |
Missense |
2/38 |
- |
1 |
18-3215140-G-C |
c.82C>G |
p.H28D |
Missense |
2/38 |
- |
1 |
18-3215141-A-G |
c.81T>C |
p.S27= |
Synonymous |
2/38 |
- |
1 |
18-3215142-C-T |
c.80G>A |
p.S27N |
Missense |
2/38 |
- |
2 |
18-3215142-CT-AA |
c.79_80delinsTT |
p.S27F |
Missense |
2/38 |
- |
1 |
18-3215144-C-T |
c.78G>A |
p.V26= |
Synonymous |
2/38 |
- |
1 |
18-3215146-C-T |
c.76G>A |
p.V26M |
Missense |
2/38 |
- |
3 |
18-3215143-TCACGGTGCTGCG-T |
c.67_78del |
p.R23_V26del |
InFrameDeletion |
2/38 |
- |
1 |
18-3215153-G-A |
c.69C>T |
p.R23= |
Synonymous |
2/38 |
- |
1 |
18-3215153-G-C |
c.69C>G |
p.R23= |
Synonymous |
2/38 |
- |
1 |
18-3215153-G-T |
c.69C>A |
p.R23= |
Synonymous |
2/38 |
- |
1 |
18-3215154-C-A |
c.68G>T |
p.R23L |
Missense |
2/38 |
- |
1 |
18-3215154-C-CG |
c.67dup |
p.R23Pfs*59 |
Frameshift |
2/38 |
- |
1 |
18-3215155-G-A |
c.67C>T |
p.R23C |
Missense |
2/38 |
- |
1 |
18-3215156-C-A |
c.66G>T |
p.V22= |
Synonymous |
2/38 |
- |
7 |
18-3215156-CAC-GAT |
c.64_66delinsATC |
p.V22I |
Missense |
2/38 |
- |
1 |
18-3215156-C-G |
c.66G>C |
p.V22= |
Synonymous |
2/38 |
- |
9 |
18-3215156-C-T |
c.66G>A |
p.V22= |
Synonymous |
2/38 |
- |
7 |
18-3215157-A-C |
c.65T>G |
p.V22G |
Missense |
2/38 |
- |
2 |
18-3215157-AC-CT |
c.64_65delinsAG |
p.V22R |
Missense |
2/38 |
- |
1 |
18-3215158-C-A |
c.64G>T |
p.V22L |
Missense |
2/38 |
- |
13 |
18-3215158-C-G |
c.64G>C |
p.V22L |
Missense |
2/38 |
- |
14 |
18-3215158-C-T |
c.64G>A |
p.V22M |
Missense |
2/38 |
- |
5 |
18-3215159-G-A |
c.63C>T |
p.D21= |
Synonymous |
2/38 |
- |
1 |
18-3215164-T-TA |
c.57_58insT |
p.K20* |
Nonsense |
2/38 |
- |
1 |
18-3215165-G-C |
c.57C>G |
p.N19K |
Missense |
2/38 |
- |
1 |
18-3215165-G-T |
c.57C>A |
p.N19K |
Missense |
2/38 |
- |
1 |
18-3215166-T-C |
c.56A>G |
p.N19S |
Missense |
2/38 |
- |
1 |
18-3215167-T-C |
c.55A>G |
p.N19D |
Missense |
2/38 |
- |
5 |
18-3215169-C-T |
c.53G>A |
p.R18H |
Missense |
2/38 |
- |
1 |
18-3215170-G-A |
c.52C>T |
p.R18C |
Missense |
2/38 |
- |
1 |
18-3215171-G-A |
c.51C>T |
p.Y17= |
Synonymous |
2/38 |
- |
3 |
18-3215171-G-C |
c.51C>G |
p.Y17* |
Nonsense |
2/38 |
- |
1 |
18-3215171-G-T |
c.51C>A |
p.Y17* |
Nonsense |
2/38 |
- |
1 |
18-3215179-G-A |
c.43C>T |
p.L15F |
Missense |
2/38 |
- |
1 |
18-3215182-C-T |
c.40G>A |
p.D14N |
Missense |
2/38 |
- |
1 |
18-3215183-A-T |
c.39T>A |
p.Y13* |
Nonsense |
2/38 |
- |
2 |
18-3215190-T-C |
c.32A>G |
p.Q11R |
Missense |
2/38 |
- |
2 |
18-3215192-G-C |
c.30C>G |
p.H10Q |
Missense |
2/38 |
- |
2 |
18-3215192-G-T |
c.30C>A |
p.H10Q |
Missense |
2/38 |
- |
2 |
18-3215193-T-C |
c.29A>G |
p.H10R |
Missense |
2/38 |
- |
1 |
18-3215210-A-C |
c.12T>G |
p.P4= |
Synonymous |
2/38 |
- |
1 |
18-3215210-A-G |
c.12T>C |
p.P4= |
Synonymous |
2/38 |
- |
1 |
18-3215210-A-T |
c.12T>A |
p.P4= |
Synonymous |
2/38 |
- |
1 |
18-3215215-A-C |
c.7T>G |
p.L3V |
Missense |
2/38 |
- |
1 |
18-3215215-A-T |
c.7T>A |
p.L3M |
Missense |
2/38 |
- |
1 |
18-3215217-G-T |
c.5C>A |
p.S2Y |
Missense |
2/38 |
- |
2 |
18-3215230-C-T |
c.-9G>A |
- |
5-UTRSNV |
2/38 |
- |
11 |
18-3215742-T-A |
c.-28-493A>T |
- |
IntronicSNV |
- |
1/37 |
1 |
18-3219851-G-A |
c.-79C>T |
- |
5_prime_UTR_variant |
1/38 |
- |
1 |