CCDC110

CCDC110 coiled-coil domain containing 110

Annotation transcript: NM_152775.4

657 unique variant annotations were identified in 271 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
4-186366675-C-T c.2483G>A p.R828K Missense 7/7 - 1
4-186366679-C-A c.2479G>T p.D827Y Missense 7/7 - 1
4-186366679-C-CT c.2478dup p.D827Rfs*25 Frameshift 7/7 - 1
4-186366689-G-C c.2469C>G p.F823L Missense 7/7 - 1
4-186366691-A-C c.2467T>G p.F823V Missense 7/7 - 1
4-186366696-C-T c.2462G>A p.G821D Missense 7/7 - 1
4-186378541-C-G c.2461+739G>C - IntronicSNV - 6/6 5
4-186378790-T-A c.2461+490A>T - IntronicSNV - 6/6 3
4-186378790-T-C c.2461+490A>G - IntronicSNV - 6/6 5
4-186378976-A-G c.2461+304T>C - IntronicSNV - 6/6 1
4-186378975-GA-G c.2461+304del - IntronicDeletion - 6/6 2
4-186379104-T-C c.2461+176A>G - IntronicSNV - 6/6 4
4-186379223-C-T c.2461+57G>A - IntronicSNV - 6/6 1
4-186379254-C-G c.2461+26G>C - IntronicSNV - 6/6 1
4-186379276-G-A c.2461+4C>T - IntronicSNV - 6/6 1
4-186379278-A-C c.2461+2T>G - IntronicSNV - 6/6 1
4-186379284-C-A c.2457G>T p.L819F Missense 6/7 - 2
4-186379284-C-G c.2457G>C p.L819F Missense 6/7 - 4
4-186379286-A-T c.2455T>A p.L819M Missense 6/7 - 8
4-186379289-C-T c.2452G>A p.D818N Missense 6/7 - 1
4-186379290-C-A c.2451G>T p.S817= Synonymous 6/7 - 1
4-186379290-C-G c.2451G>C p.S817= Synonymous 6/7 - 1
4-186379290-C-T c.2451G>A p.S817= Synonymous 6/7 - 2
4-186379291-G-A c.2450C>T p.S817L Missense 6/7 - 3
4-186379295-C-G c.2446G>C p.A816P Missense 6/7 - 1
4-186379295-C-T c.2446G>A p.A816T Missense 6/7 - 1
4-186379296-CA-C c.2444del p.L815Wfs*5 Frameshift 6/7 - 1
4-186379300-G-A c.2441C>T p.P814L Missense 6/7 - 2
4-186379306-CT-AG c.2434_2435inv p.S812L Missense 6/7 - 2
4-186379307-T-C c.2434A>G p.S812G Missense 6/7 - 3
4-186379309-T-G c.2432A>C p.Q811P Missense 6/7 - 1
4-186379310-G-C c.2431C>G p.Q811E Missense 6/7 - 3
4-186379315-C-T c.2426G>A p.S809N Missense 6/7 - 1
4-186379318-G-A c.2423C>T p.S808F Missense 6/7 - 1
4-186379322-T-C c.2419A>G p.T807A Missense 6/7 - 1
4-186379328-C-T c.2413G>A p.E805K Missense 6/7 - 9
4-186379329-G-A c.2412C>T p.H804= Synonymous 6/7 - 2
4-186379329-G-T c.2412C>A p.H804Q Missense 6/7 - 1
4-186379331-G-T c.2410C>A p.H804N Missense 6/7 - 1
4-186379348-T-C c.2393A>G p.H798R Missense 6/7 - 1
4-186379349-G-A c.2392C>T p.H798Y Missense 6/7 - 1
4-186379350-G-A c.2391C>T p.F797= Synonymous 6/7 - 1
4-186379356-C-A c.2385G>T p.E795D Missense 6/7 - 1
4-186379356-C-G c.2385G>C p.E795D Missense 6/7 - 1
4-186379357-T-A c.2384A>T p.E795V Missense 6/7 - 1
4-186379371-G-A c.2370C>T p.Y790= Synonymous 6/7 - 20
4-186379373-A-G c.2368T>C p.Y790H Missense 6/7 - 1
4-186379377-T-C c.2364A>G p.T788= Synonymous 6/7 - 1
4-186379379-T-C c.2362A>G p.T788A Missense 6/7 - 1
4-186379385-A-G c.2356T>C p.S786P Missense 6/7 - 1
4-186379391-C-A c.2350G>T p.D784Y Missense 6/7 - 1
4-186379410-T-C c.2331A>G p.K777= Synonymous 6/7 - 2
4-186379411-T-G c.2330A>C p.K777T Missense 6/7 - 1
4-186379415-C-T c.2326G>A p.D776N Missense 6/7 - 9
4-186379417-C-A c.2324G>T p.S775I Missense 6/7 - 2
4-186379430-A-T c.2311T>A p.Y771N Missense 6/7 - 2
4-186379436-G-A c.2305C>T p.R769* Nonsense 6/7 - 1
4-186379440-A-C c.2301T>G p.L767= Synonymous 6/7 - 1
4-186379440-A-G c.2301T>C p.L767= Synonymous 6/7 - 2
4-186379440-A-T c.2301T>A p.L767= Synonymous 6/7 - 1
4-186379447-C-G c.2294G>C p.R765P Missense 6/7 - 1
4-186379447-C-T c.2294G>A p.R765Q Missense 6/7 - 4
4-186379454-C-T c.2287G>A p.E763K Missense 6/7 - 1
4-186379464-G-A c.2277C>T p.T759= Synonymous 6/7 - 2
4-186379463-AG-A c.2277del p.L760Wfs*13 Frameshift 6/7 - 1
4-186379465-G-C c.2276C>G p.T759S Missense 6/7 - 1
4-186379466-T-A c.2275A>T p.T759S Missense 6/7 - 2
4-186379470-CCT-ACA c.2269_2271delinsTGT p.R757C Missense 6/7 - 2
4-186379476-AT-A c.2264del p.N755Mfs*18 Frameshift 6/7 - 3
4-186379482-T-A c.2259A>T p.I753= Synonymous 6/7 - 1
4-186379482-T-G c.2259A>C p.I753= Synonymous 6/7 - 1
4-186379488-T-C c.2253A>G p.R751= Synonymous 6/7 - 1
4-186379489-CT-TG c.2251_2252delinsCA p.R751Q Missense 6/7 - 1
4-186379493-C-T c.2248G>A p.V750I Missense 6/7 - 5
4-186379494-G-A c.2247C>T p.Y749= Synonymous 6/7 - 4
4-186379496-A-C c.2245T>G p.Y749D Missense 6/7 - 1
4-186379501-T-C c.2240A>G p.E747G Missense 6/7 - 1
4-186379518-T-A c.2223A>T p.E741D Missense 6/7 - 1
4-186379522-G-A c.2219C>T p.T740I Missense 6/7 - 3
4-186379527-GTCTACT-G c.2209_2214del p.S737_R738del InFrameDeletion 6/7 - 1
4-186379533-G-C c.2208C>G p.I736M Missense 6/7 - 1
4-186379542-T-C c.2199A>G p.E733= Synonymous 6/7 - 1
4-186379559-C-A c.2182G>T p.E728* Nonsense 6/7 - 1
4-186379567-T-C c.2174A>G p.H725R Missense 6/7 - 1
4-186379571-T-C c.2170A>G p.K724E Missense 6/7 - 1
4-186379601-C-G c.2140G>C p.D714H Missense 6/7 - 1
4-186379618-A-G c.2123T>C p.V708A Missense 6/7 - 1
4-186379622-T-C c.2119A>G p.M707V Missense 6/7 - 1
4-186379622-T-G c.2119A>C p.M707L Missense 6/7 - 1
4-186379625-T-A c.2116A>T p.K706* Nonsense 6/7 - 1
4-186379621-A-AT c.2119dup p.M707Nfs*9 Frameshift 6/7 - 3
4-186379642-T-C c.2099A>G p.E700G Missense 6/7 - 3
4-186379647-G-T c.2094C>A p.G698= Synonymous 6/7 - 1
4-186379652-T-C c.2089A>G p.I697V Missense 6/7 - 1
4-186379657-G-C c.2084C>G p.S695* Nonsense 6/7 - 1
4-186379657-G-T c.2084C>A p.S695* Nonsense 6/7 - 1
4-186379664-T-C c.2077A>G p.S693G Missense 6/7 - 1
4-186379671-A-G c.2070T>C p.Y690= Synonymous 6/7 - 1
4-186379674-A-G c.2067T>C p.I689= Synonymous 6/7 - 1
4-186379674-A-T c.2067T>A p.I689= Synonymous 6/7 - 1
4-186379678-C-A c.2063G>T p.S688I Missense 6/7 - 1
4-186379678-C-T c.2063G>A p.S688N Missense 6/7 - 1
4-186379697-T-TA c.2043_2044insT p.N682* Nonsense 6/7 - 1
4-186379695-AT-A c.2045del p.N682Mfs*27 Frameshift 6/7 - 1
4-186379706-C-A c.2035G>T p.E679* Nonsense 6/7 - 3
4-186379706-C-T c.2035G>A p.E679K Missense 6/7 - 2
4-186379713-A-G c.2028T>C p.F676= Synonymous 6/7 - 1
4-186379719-C-A c.2022G>T p.E674D Missense 6/7 - 3
4-186379719-C-G c.2022G>C p.E674D Missense 6/7 - 2
4-186379721-C-T c.2020G>A p.E674K Missense 6/7 - 1
4-186379724-C-T c.2017G>A p.E673K Missense 6/7 - 1
4-186379732-G-A c.2009C>T p.S670F Missense 6/7 - 1
4-186379732-G-T c.2009C>A p.S670Y Missense 6/7 - 1
4-186379734-T-C c.2007A>G p.Q669= Synonymous 6/7 - 1
4-186379735-T-C c.2006A>G p.Q669R Missense 6/7 - 23
4-186379754-C-A c.1987G>T p.E663* Nonsense 6/7 - 1
4-186379754-C-T c.1987G>A p.E663K Missense 6/7 - 1
4-186379760-C-A c.1981G>T p.E661* Nonsense 6/7 - 1
4-186379760-C-G c.1981G>C p.E661Q Missense 6/7 - 1
4-186379761-T-A c.1980A>T p.R660S Missense 6/7 - 2
4-186379761-T-G c.1980A>C p.R660S Missense 6/7 - 2
4-186379762-TC-T c.1979del p.R660Kfs*21 Frameshift 6/7 - 1
4-186379767-C-T c.1974G>A p.M658I Missense 6/7 - 1
4-186379768-A-G c.1973T>C p.M658T Missense 6/7 - 2
4-186379774-T-C c.1967A>G p.Q656R Missense 6/7 - 1
4-186379777-CT-TG c.1963_1964delinsCA p.R655Q Missense 6/7 - 1
4-186379782-A-G c.1959T>C p.A653= Synonymous 6/7 - 1
4-186379786-G-A c.1955C>T p.T652I Missense 6/7 - 1
4-186379789-G-T c.1952C>A p.S651Y Missense 6/7 - 3
4-186379794-T-C c.1947A>G p.Q649= Synonymous 6/7 - 1
4-186379795-T-A c.1946A>T p.Q649L Missense 6/7 - 1
4-186379808-C-G c.1933G>C p.E645Q Missense 6/7 - 2
4-186379811-G-T c.1930C>A p.L644I Missense 6/7 - 1
4-186379814-T-A c.1927A>T p.N643Y Missense 6/7 - 1
4-186379815-GAG-CAT c.1924_1926delinsATG p.L642M Missense 6/7 - 1
4-186379815-G-C c.1926C>G p.L642= Synonymous 6/7 - 1
4-186379817-G-A c.1924C>T p.L642F Missense 6/7 - 3
4-186379820-T-A c.1921A>T p.K641* Nonsense 6/7 - 1
4-186379820-T-G c.1921A>C p.K641Q Missense 6/7 - 1
4-186379822-T-C c.1919A>G p.E640G Missense 6/7 - 1
4-186379834-GT-G c.1906del p.T636Qfs*45 Frameshift 6/7 - 1
4-186379838-C-A c.1903G>T p.E635* Nonsense 6/7 - 1
4-186379842-T-C c.1899A>G p.I633M Missense 6/7 - 1
4-186379846-T-C c.1895A>G p.Q632R Missense 6/7 - 9
4-186379847-G-C c.1894C>G p.Q632E Missense 6/7 - 1
4-186379853-G-A c.1888C>T p.L630F Missense 6/7 - 3
4-186379859-C-T c.1882G>A p.E628K Missense 6/7 - 1
4-186379860-T-G c.1881A>C p.Q627H Missense 6/7 - 1
4-186379866-C-A c.1875G>T p.T625= Synonymous 6/7 - 1
4-186379866-C-G c.1875G>C p.T625= Synonymous 6/7 - 1
4-186379866-C-T c.1875G>A p.T625= Synonymous 6/7 - 2
4-186379867-G-A c.1874C>T p.T625M Missense 6/7 - 1
4-186379869-T-G c.1872A>C p.K624N Missense 6/7 - 1
4-186379867-G-GT c.1873dup p.T625Nfs*14 Frameshift 6/7 - 1
4-186379874-C-T c.1867G>A p.A623T Missense 6/7 - 1
4-186379879-C-G c.1862G>C p.R621T Missense 6/7 - 1
4-186379887-C-A c.1854G>T p.E618D Missense 6/7 - 1
4-186379887-C-G c.1854G>C p.E618D Missense 6/7 - 1
4-186379885-TTC-T c.1854_1855del p.K619Rfs*19 Frameshift 6/7 - 1
4-186379896-C-A c.1845G>T p.Q615H Missense 6/7 - 1
4-186379896-C-G c.1845G>C p.Q615H Missense 6/7 - 1
4-186379898-G-A c.1843C>T p.Q615* Nonsense 6/7 - 2
4-186379899-G-C c.1842C>G p.I614M Missense 6/7 - 27
4-186379915-C-T c.1826G>A p.S609N Missense 6/7 - 1
4-186379920-T-A c.1821A>T p.K607N Missense 6/7 - 1
4-186379923-T-A c.1818A>T p.L606= Synonymous 6/7 - 1
4-186379923-T-C c.1818A>G p.L606= Synonymous 6/7 - 1
4-186379923-T-G c.1818A>C p.L606= Synonymous 6/7 - 1
4-186379925-G-A c.1816C>T p.L606= Synonymous 6/7 - 1
4-186379927-T-G c.1814A>C p.E605A Missense 6/7 - 1
4-186379928-C-T c.1813G>A p.E605K Missense 6/7 - 1
4-186379933-C-A c.1808G>T p.G603V Missense 6/7 - 1
4-186379933-C-T c.1808G>A p.G603E Missense 6/7 - 2
4-186379939-G-A c.1802C>T p.S601L Missense 6/7 - 1
4-186379943-T-G c.1798A>C p.S600R Missense 6/7 - 1
4-186379942-CT-C c.1798del p.S600Afs*7 Frameshift 6/7 - 1
4-186379955-G-T c.1786C>A p.L596I Missense 6/7 - 2
4-186379959-C-T c.1782G>A p.Q594= Synonymous 6/7 - 2
4-186379965-T-A c.1776A>T p.T592= Synonymous 6/7 - 1
4-186379965-T-C c.1776A>G p.T592= Synonymous 6/7 - 1
4-186379965-T-G c.1776A>C p.T592= Synonymous 6/7 - 1
4-186379966-G-GT c.1774dup p.T592Nfs*14 Frameshift 6/7 - 2
4-186379966-GT-G c.1774del p.T592Hfs*5 Frameshift 6/7 - 5
4-186379973-T-C c.1768A>G p.K590E Missense 6/7 - 1
4-186379979-A-G c.1762T>C p.L588= Synonymous 6/7 - 1
4-186379980-C-A c.1761G>T p.M587I Missense 6/7 - 1
4-186379980-C-G c.1761G>C p.M587I Missense 6/7 - 1
4-186379980-C-T c.1761G>A p.M587I Missense 6/7 - 1
4-186379985-C-A c.1756G>T p.E586* Nonsense 6/7 - 6
4-186379991-C-T c.1750G>A p.E584K Missense 6/7 - 1
4-186379996-T-G c.1745A>C p.Q582P Missense 6/7 - 1
4-186380006-G-A c.1735C>T p.L579= Synonymous 6/7 - 1
4-186380007-A-C c.1734T>G p.I578M Missense 6/7 - 1
4-186380010-A-G c.1731T>C p.N577= Synonymous 6/7 - 1
4-186380014-G-A c.1727C>T p.T576I Missense 6/7 - 1
4-186380024-C-CT c.1716dup p.A573Sfs*12 Frameshift 6/7 - 1
4-186380028-C-T c.1713G>A p.M571I Missense 6/7 - 1
4-186380033-C-A c.1708G>T p.E570* Nonsense 6/7 - 2
4-186380035-A-G c.1706T>C p.I569T Missense 6/7 - 1
4-186380045-G-A c.1696C>T p.R566* Nonsense 6/7 - 1
4-186380050-T-C c.1691A>G p.N564S Missense 6/7 - 1
4-186380071-A-G c.1670T>C p.M557T Missense 6/7 - 1
4-186380074-T-C c.1667A>G p.D556G Missense 6/7 - 1
4-186380077-CT-C c.1663del p.S555Vfs*6 Frameshift 6/7 - 1
4-186380083-G-A c.1658C>T p.T553I Missense 6/7 - 1
4-186380089-T-C c.1652A>G p.H551R Missense 6/7 - 1
4-186380090-G-A c.1651C>T p.H551Y Missense 6/7 - 1
4-186380094-C-A c.1647G>T p.K549N Missense 6/7 - 3
4-186380094-C-G c.1647G>C p.K549N Missense 6/7 - 2
4-186380103-T-A c.1638A>T p.L546= Synonymous 6/7 - 1
4-186380103-T-C c.1638A>G p.L546= Synonymous 6/7 - 1
4-186380103-T-G c.1638A>C p.L546= Synonymous 6/7 - 1
4-186380105-G-A c.1636C>T p.L546= Synonymous 6/7 - 1
4-186380111-C-T c.1630G>A p.D544N Missense 6/7 - 2
4-186380117-C-T c.1624G>A p.A542T Missense 6/7 - 6
4-186380123-T-C c.1618A>G p.M540V Missense 6/7 - 1
4-186380127-T-A c.1614A>T p.Q538H Missense 6/7 - 1
4-186380127-T-G c.1614A>C p.Q538H Missense 6/7 - 1
4-186380129-G-A c.1612C>T p.Q538* Nonsense 6/7 - 3
4-186380140-A-G c.1601T>C p.L534S Missense 6/7 - 4
4-186380141-A-G c.1600T>C p.L534= Synonymous 6/7 - 3
4-186380143-G-A c.1598C>T p.S533F Missense 6/7 - 2
4-186380143-G-T c.1598C>A p.S533Y Missense 6/7 - 1
4-186380144-A-C c.1597T>G p.S533A Missense 6/7 - 1
4-186380145-A-C c.1596T>G p.L532= Synonymous 6/7 - 2
4-186380145-A-G c.1596T>C p.L532= Synonymous 6/7 - 2
4-186380145-A-T c.1596T>A p.L532= Synonymous 6/7 - 2
4-186380147-G-C c.1594C>G p.L532V Missense 6/7 - 4
4-186380148-T-C c.1593A>G p.Q531= Synonymous 6/7 - 2
4-186380152-A-G c.1589T>C p.I530T Missense 6/7 - 1
4-186380154-AT-A c.1586del p.N529Ifs*6 Frameshift 6/7 - 1
4-186380162-C-T c.1579G>A p.E527K Missense 6/7 - 2
4-186380171-T-C c.1570A>G p.T524A Missense 6/7 - 1
4-186380183-C-CA c.1557_1558insT p.G520Wfs*4 Frameshift 6/7 - 1
4-186380183-C-G c.1558G>C p.G520R Missense 6/7 - 8
4-186380191-A-G c.1550T>C p.V517A Missense 6/7 - 3
4-186380195-T-C c.1546A>G p.N516D Missense 6/7 - 2
4-186380213-T-C c.1528A>G p.K510E Missense 6/7 - 1
4-186380209-A-AT c.1531dup p.I511Nfs*3 Frameshift 6/7 - 3
4-186380216-T-A c.1525A>T p.K509* Nonsense 6/7 - 2
4-186380222-C-A c.1519G>T p.E507* Nonsense 6/7 - 1
4-186380243-A-C c.1498T>G p.Y500D Missense 6/7 - 24
4-186380243-A-G c.1498T>C p.Y500H Missense 6/7 - 5
4-186380254-T-G c.1487A>C p.K496T Missense 6/7 - 1
4-186380257-C-A c.1484G>T p.S495I Missense 6/7 - 1
4-186380262-C-T c.1479G>A p.K493= Synonymous 6/7 - 1
4-186380271-A-C c.1470T>G p.I490M Missense 6/7 - 1
4-186380283-T-A c.1458A>T p.E486D Missense 6/7 - 1
4-186380283-T-G c.1458A>C p.E486D Missense 6/7 - 1
4-186380286-T-G c.1455A>C p.E485D Missense 6/7 - 3
4-186380291-C-T c.1450G>A p.V484I Missense 6/7 - 1
4-186380295-A-C c.1446T>G p.N482K Missense 6/7 - 2
4-186380295-A-G c.1446T>C p.N482= Synonymous 6/7 - 13
4-186380303-G-C c.1438C>G p.L480V Missense 6/7 - 1
4-186380308-T-G c.1433A>C p.K478T Missense 6/7 - 1
4-186380312-C-A c.1429G>T p.E477* Nonsense 6/7 - 1
4-186380314-T-C c.1427A>G p.Y476C Missense 6/7 - 1
4-186380315-A-C c.1426T>G p.Y476D Missense 6/7 - 6
4-186380315-A-G c.1426T>C p.Y476H Missense 6/7 - 1
4-186380317-G-GT c.1423dup p.T475Nfs*3 Frameshift 6/7 - 1
4-186380330-G-C c.1411C>G p.Q471E Missense 6/7 - 1
4-186380336-G-A c.1405C>T p.L469F Missense 6/7 - 4
4-186380336-G-T c.1405C>A p.L469I Missense 6/7 - 1
4-186380338-G-A c.1403C>T p.S468F Missense 6/7 - 4
4-186380342-G-T c.1399C>A p.Q467K Missense 6/7 - 1
4-186380357-G-C c.1384C>G p.L462V Missense 6/7 - 1
4-186380370-G-T c.1371C>A p.S457= Synonymous 6/7 - 1
4-186380371-G-A c.1370C>T p.S457F Missense 6/7 - 1
4-186380373-C-A c.1368G>T p.K456N Missense 6/7 - 1
4-186380376-A-C c.1365T>G p.L455= Synonymous 6/7 - 3
4-186380376-A-G c.1365T>C p.L455= Synonymous 6/7 - 3
4-186380376-A-T c.1365T>A p.L455= Synonymous 6/7 - 3
4-186380392-C-T c.1349G>A p.S450N Missense 6/7 - 1
4-186380397-C-A c.1344G>T p.L448= Synonymous 6/7 - 1
4-186380397-C-G c.1344G>C p.L448= Synonymous 6/7 - 1
4-186380397-C-T c.1344G>A p.L448= Synonymous 6/7 - 1
4-186380399-G-A c.1342C>T p.L448= Synonymous 6/7 - 2
4-186380403-C-T c.1338G>A p.M446I Missense 6/7 - 1
4-186380407-AC-TA c.1333_1334delinsTA p.V445* Nonsense 6/7 - 2
4-186380408-C-CTA c.1332_1333insTA p.V445* Nonsense 6/7 - 1
4-186380409-T-A c.1332A>T p.K444N Missense 6/7 - 1
4-186380408-C-CT c.1332dup p.V445Sfs*7 Frameshift 6/7 - 1
4-186380408-CT-C c.1332del p.V445* Frameshift 6/7 - 1
4-186380419-A-G c.1322T>C p.I441T Missense 6/7 - 1
4-186380421-C-A c.1320G>T p.Q440H Missense 6/7 - 1
4-186380421-C-G c.1320G>C p.Q440H Missense 6/7 - 1
4-186380437-A-T c.1304T>A p.L435Q Missense 6/7 - 1
4-186380438-G-T c.1303C>A p.L435I Missense 6/7 - 2
4-186380443-T-A c.1298A>T p.N433I Missense 6/7 - 1
4-186380446-T-A c.1295A>T p.Q432L Missense 6/7 - 1
4-186380447-G-A c.1294C>T p.Q432* Nonsense 6/7 - 2
4-186380447-G-C c.1294C>G p.Q432E Missense 6/7 - 1
4-186380457-A-C c.1284T>G p.I428M Missense 6/7 - 3
4-186380464-G-T c.1277C>A p.A426E Missense 6/7 - 1
4-186380465-C-A c.1276G>T p.A426S Missense 6/7 - 1
4-186380465-C-T c.1276G>A p.A426T Missense 6/7 - 1
4-186380468-C-T c.1273G>A p.V425I Missense 6/7 - 2
4-186380470-C-T c.1271G>A p.C424Y Missense 6/7 - 1
4-186380474-G-A c.1267C>T p.Q423* Nonsense 6/7 - 2
4-186380483-C-T c.1258G>A p.V420I Missense 6/7 - 1
4-186380484-G-A c.1257C>T p.S419= Synonymous 6/7 - 1
4-186380485-G-A c.1256C>T p.S419F Missense 6/7 - 1
4-186380512-T-A c.1229A>T p.E410V Missense 6/7 - 1
4-186380512-T-C c.1229A>G p.E410G Missense 6/7 - 1
4-186380514-A-C c.1227T>G p.S409= Synonymous 6/7 - 2
4-186380514-A-G c.1227T>C p.S409= Synonymous 6/7 - 2
4-186380514-A-T c.1227T>A p.S409= Synonymous 6/7 - 2
4-186380515-G-A c.1226C>T p.S409F Missense 6/7 - 30
4-186380522-T-C c.1219A>G p.I407V Missense 6/7 - 1
4-186380530-T-G c.1211A>C p.Q404P Missense 6/7 - 1
4-186380532-T-C c.1209A>G p.K403= Synonymous 6/7 - 1
4-186380535-T-A c.1206A>T p.V402= Synonymous 6/7 - 1
4-186380539-A-G c.1202T>C p.L401P Missense 6/7 - 1
4-186380540-G-T c.1201C>A p.L401I Missense 6/7 - 3
4-186380548-T-C c.1193A>G p.Q398R Missense 6/7 - 1
4-186380551-C-T c.1190G>A p.R397K Missense 6/7 - 1
4-186380555-C-A c.1186G>T p.E396* Nonsense 6/7 - 1
4-186380562-T-A c.1179A>T p.K393N Missense 6/7 - 3
4-186380562-T-C c.1179A>G p.K393= Synonymous 6/7 - 1
4-186380562-T-G c.1179A>C p.K393N Missense 6/7 - 1
4-186380565-C-A c.1176G>T p.M392I Missense 6/7 - 1
4-186380565-C-G c.1176G>C p.M392I Missense 6/7 - 1
4-186380565-C-T c.1176G>A p.M392I Missense 6/7 - 1
4-186380566-A-C c.1175T>G p.M392R Missense 6/7 - 2
4-186380566-A-G c.1175T>C p.M392T Missense 6/7 - 1
4-186380573-G-C c.1168C>G p.H390D Missense 6/7 - 1
4-186380574-T-A c.1167A>T p.K389N Missense 6/7 - 1
4-186380574-T-G c.1167A>C p.K389N Missense 6/7 - 1
4-186380578-TG-T c.1163del p.T388Kfs*5 Frameshift 6/7 - 1
4-186380582-G-A c.1159C>T p.Q387* Nonsense 6/7 - 1
4-186380585-C-T c.1156G>A p.D386N Missense 6/7 - 1
4-186380586-G-A c.1155C>T p.L385= Synonymous 6/7 - 3
4-186380588-G-T c.1153C>A p.L385I Missense 6/7 - 1
4-186380589-G-C c.1152C>G p.F384L Missense 6/7 - 3
4-186380589-G-T c.1152C>A p.F384L Missense 6/7 - 2
4-186380591-A-G c.1150T>C p.F384L Missense 6/7 - 2
4-186380597-G-A c.1144C>T p.L382= Synonymous 6/7 - 2
4-186380597-G-T c.1144C>A p.L382M Missense 6/7 - 2
4-186380600-T-C c.1141A>G p.T381A Missense 6/7 - 1
4-186380602-T-C c.1139A>G p.Y380C Missense 6/7 - 1
4-186380606-T-A c.1135A>T p.R379* Nonsense 6/7 - 3
4-186380606-T-C c.1135A>G p.R379G Missense 6/7 - 1
4-186380612-C-T c.1129G>A p.V377I Missense 6/7 - 1
4-186380617-G-A c.1124C>T p.S375F Missense 6/7 - 2
4-186380625-T-A c.1116A>T p.K372N Missense 6/7 - 1
4-186380625-T-G c.1116A>C p.K372N Missense 6/7 - 1
4-186380629-AA-GG c.1111_1112delinsCC p.L371P Missense 6/7 - 1
4-186380631-A-C c.1110T>G p.D370E Missense 6/7 - 1
4-186380631-A-T c.1110T>A p.D370E Missense 6/7 - 1
4-186380633-C-G c.1108G>C p.D370H Missense 6/7 - 1
4-186380633-C-T c.1108G>A p.D370N Missense 6/7 - 2
4-186380642-T-C c.1099A>G p.N367D Missense 6/7 - 1
4-186380645-T-A c.1096A>T p.K366* Nonsense 6/7 - 1
4-186380647-C-T c.1094G>A p.G365D Missense 6/7 - 3
4-186380652-G-A c.1089C>T p.I363= Synonymous 6/7 - 1
4-186380652-G-C c.1089C>G p.I363M Missense 6/7 - 1
4-186380653-A-G c.1088T>C p.I363T Missense 6/7 - 1
4-186380657-G-A c.1084C>T p.P362S Missense 6/7 - 5
4-186380657-G-T c.1084C>A p.P362T Missense 6/7 - 1
4-186380658-A-G c.1083T>C p.I361= Synonymous 6/7 - 1
4-186380658-A-T c.1083T>A p.I361= Synonymous 6/7 - 1
4-186380661-T-A c.1080A>T p.E360D Missense 6/7 - 1
4-186380661-T-G c.1080A>C p.E360D Missense 6/7 - 1
4-186380662-T-G c.1079A>C p.E360A Missense 6/7 - 1
4-186380663-C-T c.1078G>A p.E360K Missense 6/7 - 1
4-186380666-T-A c.1075A>T p.K359* Nonsense 6/7 - 1
4-186380670-TG-T c.1071del p.N357Kfs*15 Frameshift 6/7 - 1
4-186380673-T-A c.1068A>T p.K356N Missense 6/7 - 3
4-186380673-T-G c.1068A>C p.K356N Missense 6/7 - 3
4-186380684-T-C c.1057A>G p.K353E Missense 6/7 - 2
4-186380690-C-G c.1051G>C p.G351R Missense 6/7 - 1
4-186380690-C-T c.1051G>A p.G351R Missense 6/7 - 1
4-186380692-C-CA c.1048_1049insT p.R350Mfs*6 Frameshift 6/7 - 1
4-186380700-T-A c.1041A>T p.E347D Missense 6/7 - 1
4-186380700-T-G c.1041A>C p.E347D Missense 6/7 - 1
4-186380701-T-C c.1040A>G p.E347G Missense 6/7 - 1
4-186380706-C-A c.1035G>T p.K345N Missense 6/7 - 1
4-186380707-T-G c.1034A>C p.K345T Missense 6/7 - 1
4-186380710-GA-AG c.1030_1031delinsCT p.S344L Missense 6/7 - 1
4-186380710-G-C c.1031C>G p.S344C Missense 6/7 - 6
4-186380712-T-A c.1029A>T p.L343F Missense 6/7 - 1
4-186380712-T-G c.1029A>C p.L343F Missense 6/7 - 1
4-186380716-T-G c.1025A>C p.K342T Missense 6/7 - 1
4-186380723-A-G c.1018T>C p.C340R Missense 6/7 - 1
4-186380731-AC-A c.1010del p.C337Lfs*35 Frameshift 6/7 - 1
4-186380751-T-A c.990A>T p.S330= Synonymous 6/7 - 1
4-186380751-T-C c.990A>G p.S330= Synonymous 6/7 - 1
4-186380751-T-G c.990A>C p.S330= Synonymous 6/7 - 1
4-186380752-GAC-G c.987_988del p.S330Kfs*8 Frameshift 6/7 - 1
4-186380765-T-C c.976A>G p.R326G Missense 6/7 - 1
4-186380766-G-A c.975C>T p.F325= Synonymous 6/7 - 1
4-186380770-G-A c.971C>T p.P324L Missense 6/7 - 1
4-186380772-G-A c.969C>T p.L323= Synonymous 6/7 - 1
4-186380772-G-C c.969C>G p.L323= Synonymous 6/7 - 1
4-186380772-G-T c.969C>A p.L323= Synonymous 6/7 - 1
4-186380776-AA-GG c.964_965delinsCC p.L322P Missense 6/7 - 1
4-186380777-A-C c.964T>G p.L322V Missense 6/7 - 2
4-186380781-C-T c.960G>A p.K320= Synonymous 6/7 - 3
4-186380808-T-A c.933A>T p.R311S Missense 6/7 - 1
4-186380809-C-A c.932G>T p.R311I Missense 6/7 - 4
4-186380815-G-C c.926C>G p.S309* Nonsense 6/7 - 2
4-186380815-G-T c.926C>A p.S309* Nonsense 6/7 - 1
4-186380822-T-C c.919A>G p.I307V Missense 6/7 - 4
4-186380825-C-A c.916G>T p.D306Y Missense 6/7 - 1
4-186380831-T-G c.910A>C p.N304H Missense 6/7 - 1
4-186380840-C-T c.901G>A p.G301S Missense 6/7 - 1
4-186380841-G-A c.900C>T p.D300= Synonymous 6/7 - 1
4-186380844-C-T c.897G>A p.L299= Synonymous 6/7 - 2
4-186380846-A-C c.895T>G p.L299V Missense 6/7 - 5
4-186380846-A-G c.895T>C p.L299= Synonymous 6/7 - 7
4-186380846-A-T c.895T>A p.L299M Missense 6/7 - 30
4-186380847-G-A c.894C>T p.N298= Synonymous 6/7 - 2
4-186380855-C-T c.886G>A p.E296K Missense 6/7 - 3
4-186380860-A-G c.881T>C p.I294T Missense 6/7 - 1
4-186380862-A-G c.879T>C p.F293= Synonymous 6/7 - 1
4-186380862-A-C c.879T>G p.F293L Missense 6/7 - 1
4-186380862-A-T c.879T>A p.F293L Missense 6/7 - 1
4-186380864-AAG-A c.876_877del p.F293Yfs*2 Frameshift 6/7 - 1
4-186380864-A-G c.877T>C p.F293L Missense 6/7 - 1
4-186380869-A-G c.872T>C p.M291T Missense 6/7 - 1
4-186380870-T-A c.871A>T p.M291L Missense 6/7 - 1
4-186380870-T-G c.871A>C p.M291L Missense 6/7 - 1
4-186380872-T-C c.869A>G p.K290R Missense 6/7 - 1
4-186380882-G-A c.859C>T p.H287Y Missense 6/7 - 1
4-186380887-G-A c.854C>T p.P285L Missense 6/7 - 1
4-186380892-C-A c.849G>T p.M283I Missense 6/7 - 1
4-186380892-C-G c.849G>C p.M283I Missense 6/7 - 1
4-186380892-C-T c.849G>A p.M283I Missense 6/7 - 1
4-186380896-T-C c.845A>G p.D282G Missense 6/7 - 3
4-186380905-C-T c.836G>A p.G279D Missense 6/7 - 1
4-186380906-C-T c.835G>A p.G279S Missense 6/7 - 4
4-186380910-CCT-ATG c.829_831delinsCAT p.R277H Missense 6/7 - 2
4-186380912-T-A c.829A>T p.R277W Missense 6/7 - 1
4-186380912-T-C c.829A>G p.R277G Missense 6/7 - 2
4-186380916-A-C c.825T>G p.V275= Synonymous 6/7 - 1
4-186380916-A-G c.825T>C p.V275= Synonymous 6/7 - 1
4-186380916-A-T c.825T>A p.V275= Synonymous 6/7 - 1
4-186380928-A-T c.813T>A p.T271= Synonymous 6/7 - 1
4-186380941-T-C c.800A>G p.Q267R Missense 6/7 - 1
4-186380947-T-G c.794A>C p.E265A Missense 6/7 - 1
4-186380953-G-T c.788C>A p.T263K Missense 6/7 - 1
4-186380955-AAG-CAT c.784_786delinsATG p.L262M Missense 6/7 - 18
4-186380956-A-T c.785T>A p.L262H Missense 6/7 - 1
4-186380963-C-T c.778G>A p.V260M Missense 6/7 - 1
4-186380965-T-G c.776A>C p.E259A Missense 6/7 - 1
4-186380966-C-T c.775G>A p.E259K Missense 6/7 - 3
4-186380971-T-A c.770A>T p.D257V Missense 6/7 - 2
4-186380980-T-G c.761A>C p.K254T Missense 6/7 - 1
4-186380984-G-T c.757C>A p.Q253K Missense 6/7 - 1
4-186380990-C-T c.751G>A p.E251K Missense 6/7 - 1
4-186380999-T-C c.742A>G p.M248V Missense 6/7 - 1
4-186381000-T-A c.741A>T p.Q247H Missense 6/7 - 2
4-186381000-T-G c.741A>C p.Q247H Missense 6/7 - 2
4-186381005-T-A c.736A>T p.K246* Nonsense 6/7 - 1
4-186381015-G-A c.726C>T p.C242= Synonymous 6/7 - 1
4-186381019-A-G c.722T>C p.I241T Missense 6/7 - 1
4-186381022-T-A c.719A>T p.D240V Missense 6/7 - 1
4-186381022-T-C c.719A>G p.D240G Missense 6/7 - 1
4-186381026-C-G c.715G>C p.D239H Missense 6/7 - 1
4-186381035-C-A c.706G>T p.E236* Nonsense 6/7 - 1
4-186381035-C-T c.706G>A p.E236K Missense 6/7 - 1
4-186381046-T-C c.695A>G p.H232R Missense 6/7 - 1
4-186381047-G-T c.694C>A p.H232N Missense 6/7 - 1
4-186381051-GAG-TTA c.688_690delinsTAA p.L230* Nonsense 6/7 - 1
4-186381059-G-A c.682C>T p.P228S Missense 6/7 - 3
4-186381064-G-T c.677C>A p.T226N Missense 6/7 - 2
4-186381070-T-G c.671A>C p.K224T Missense 6/7 - 1
4-186381073-G-A c.668C>T p.S223F Missense 6/7 - 1
4-186381076-T-A c.665A>T p.K222I Missense 6/7 - 1
4-186381076-T-C c.665A>G p.K222R Missense 6/7 - 1
4-186381077-T-A c.664A>T p.K222* Nonsense 6/7 - 1
4-186381079-T-C c.662A>G p.D221G Missense 6/7 - 2
4-186381082-A-G c.659T>C p.L220P Missense 6/7 - 1
4-186381084-A-C c.657T>G p.I219M Missense 6/7 - 1
4-186381089-C-A c.652G>T p.V218L Missense 6/7 - 1
4-186381095-C-T c.646G>A p.D216N Missense 6/7 - 1
4-186381100-T-C c.641A>G p.Q214R Missense 6/7 - 1
4-186381101-G-A c.640C>T p.Q214* Nonsense 6/7 - 1
4-186381105-C-A c.636G>T p.M212I Missense 6/7 - 4
4-186381105-C-G c.636G>C p.M212I Missense 6/7 - 1
4-186381108-C-T c.633G>A p.V211= Synonymous 6/7 - 1
4-186381114-T-A c.627A>T p.P209= Synonymous 6/7 - 2
4-186381114-T-C c.627A>G p.P209= Synonymous 6/7 - 2
4-186381114-T-G c.627A>C p.P209= Synonymous 6/7 - 2
4-186381115-G-T c.626C>A p.P209Q Missense 6/7 - 27
4-186381122-C-T c.619G>A p.A207T Missense 6/7 - 2
4-186381127-G-T c.614C>A p.P205H Missense 6/7 - 1
4-186381128-G-A c.613C>T p.P205S Missense 6/7 - 1
4-186381135-AC-TT c.605_606delinsAA p.R202Q Missense 6/7 - 1
4-186381137-G-A c.604C>T p.R202C Missense 6/7 - 4
4-186381139-T-C c.602A>G p.Y201C Missense 6/7 - 1
4-186381142-A-C c.599T>G p.F200C Missense 6/7 - 2
4-186381146-T-A c.595A>T p.N199Y Missense 6/7 - 4
4-186381154-T-C c.587A>G p.N196S Missense 6/7 - 2
4-186381165-G-A c.576C>T p.D192= Synonymous 6/7 - 15
4-186381170-A-T c.571T>A p.S191T Missense 6/7 - 1
4-186381171-A-C c.570T>G p.N190K Missense 6/7 - 2
4-186381171-A-T c.570T>A p.N190K Missense 6/7 - 1
4-186381174-T-A c.567A>T p.E189D Missense 6/7 - 1
4-186381174-T-G c.567A>C p.E189D Missense 6/7 - 1
4-186381188-T-A c.553A>T p.I185L Missense 6/7 - 1
4-186381189-AATT-A c.549_551del p.I185del InFrameDeletion 6/7 - 1
4-186381198-TG-AT c.542_543delinsAT p.S181Y Missense 6/7 - 1
4-186381199-G-C c.542C>G p.S181* Nonsense 6/7 - 1
4-186381199-G-T c.542C>A p.S181* Nonsense 6/7 - 1
4-186381206-A-C c.535T>G p.L179V Missense 6/7 - 1
4-186381209-T-G c.532A>C p.N178H Missense 6/7 - 2
4-186381213-TG-CA c.527_528inv p.T176M Missense 6/7 - 1
4-186381223-C-A c.518G>T p.R173I Missense 6/7 - 5
4-186381227-G-T c.514C>A p.L172M Missense 6/7 - 1
4-186381231-T-A c.510A>T p.L170F Missense 6/7 - 1
4-186381231-T-G c.510A>C p.L170F Missense 6/7 - 1
4-186381232-A-G c.509T>C p.L170S Missense 6/7 - 1
4-186381238-T-C c.503A>G p.D168G Missense 6/7 - 1
4-186381242-C-T c.499G>A p.E167K Missense 6/7 - 3
4-186381243-G-A c.498C>T p.S166= Synonymous 6/7 - 4
4-186381243-G-C c.498C>G p.S166= Synonymous 6/7 - 3
4-186381243-G-T c.498C>A p.S166= Synonymous 6/7 - 3
4-186381255-G-A c.486C>T p.S162= Synonymous 6/7 - 3
4-186381255-G-C c.486C>G p.S162= Synonymous 6/7 - 2
4-186381255-G-T c.486C>A p.S162= Synonymous 6/7 - 2
4-186381256-G-A c.485C>T p.S162F Missense 6/7 - 2
4-186381259-G-A c.482C>T p.P161L Missense 6/7 - 1
4-186381268-A-C c.473T>G p.V158G Missense 6/7 - 1
4-186381278-G-A c.463C>T p.P155S Missense 6/7 - 1
4-186381281-G-A c.460C>T p.L154F Missense 6/7 - 1
4-186381287-T-C c.454A>G p.N152D Missense 6/7 - 1
4-186381293-T-C c.448A>G p.S150G Missense 6/7 - 1
4-186381301-ACTT-A c.438_440del p.L146_S147delinsF MultiAAMissense 6/7 - 1
4-186381301-C-T c.440G>A p.S147N Missense 6/7 - 4
4-186381303-T-C c.438A>G p.L146= Synonymous 6/7 - 1
4-186381305-A-G c.436T>C p.L146= Synonymous 6/7 - 1
4-186381328-G-T c.413C>A p.T138K Missense 6/7 - 2
4-186381342-A-C c.399T>G p.F133L Missense 6/7 - 3
4-186381345-A-G c.396T>C p.H132= Synonymous 6/7 - 1
4-186381347-G-C c.394C>G p.H132D Missense 6/7 - 1
4-186381350-G-A c.391C>T p.H131Y Missense 6/7 - 3
4-186381352-C-CT c.388dup p.S130Kfs*5 Frameshift 6/7 - 2
4-186381357-C-T c.384G>A p.E128= Synonymous 6/7 - 1
4-186381361-A-G c.380T>C p.M127T Missense 6/7 - 1
4-186381368-G-A c.373C>T p.L125F Missense 6/7 - 1
4-186381369-G-A c.372C>T p.N124= Synonymous 6/7 - 1
4-186381384-C-A c.357G>T p.E119D Missense 6/7 - 1
4-186381384-C-G c.357G>C p.E119D Missense 6/7 - 1
4-186381385-T-C c.356A>G p.E119G Missense 6/7 - 1
4-186381934-C-T c.348+269G>A - IntronicSNV - 5/6 2
4-186381943-A-G c.348+260T>C - IntronicSNV - 5/6 1
4-186382038-G-T c.348+165C>A - IntronicSNV - 5/6 1
4-186382144-G-T c.348+59C>A - IntronicSNV - 5/6 1
4-186382146-T-C c.348+57A>G - IntronicSNV - 5/6 1
4-186382206-A-G c.345T>C p.D115= Synonymous 5/7 - 14
4-186382212-T-A c.339A>T p.E113D Missense 5/7 - 1
4-186382212-T-G c.339A>C p.E113D Missense 5/7 - 1
4-186382214-C-T c.337G>A p.E113K Missense 5/7 - 2
4-186382217-T-C c.334A>G p.I112V Missense 5/7 - 1
4-186382219-C-T c.332G>A p.R111H Missense 5/7 - 1
4-186382220-G-A c.331C>T p.R111C Missense 5/7 - 6
4-186382221-C-T c.330G>A p.T110= Synonymous 5/7 - 1
4-186382224-G-A c.327C>T p.G109= Synonymous 5/7 - 1
4-186382224-G-C c.327C>G p.G109= Synonymous 5/7 - 1
4-186382224-G-T c.327C>A p.G109= Synonymous 5/7 - 1
4-186382236-A-C c.315T>G p.N105K Missense 5/7 - 1
4-186382236-A-T c.315T>A p.N105K Missense 5/7 - 1
4-186382240-T-C c.311A>G p.K104R Missense 5/7 - 1
4-186382236-A-AT c.314dup p.N105Kfs*9 Frameshift 5/7 - 1
4-186382236-AT-A c.314del p.N105Ifs*42 Frameshift 5/7 - 1
4-186382244-C-G c.307G>C p.E103Q Missense 5/7 - 1
4-186382249-C-T c.302G>A p.S101N Missense 5/7 - 1
4-186382250-T-C c.301A>G p.S101G Missense 5/7 - 1
4-186382259-G-C c.292C>G p.P98A Missense 5/7 - 1
4-186382261-T-C c.290A>G p.N97S Missense 5/7 - 1
4-186382269-T-A c.282A>T p.E94D Missense 5/7 - 1
4-186382270-T-G c.281A>C p.E94A Missense 5/7 - 1
4-186382271-C-A c.280G>T p.E94* Nonsense 5/7 - 2
4-186382280-T-C c.271A>G p.S91G Missense 5/7 - 1
4-186382284-G-A c.267C>T p.N89= Synonymous 5/7 - 1
4-186382290-TA-GC c.260_261delinsGC p.I87S Missense 5/7 - 1
4-186382295-C-A c.256G>T p.E86* Nonsense 5/7 - 1
4-186382298-T-C c.253A>G p.S85G Missense 5/7 - 1
4-186382305-C-A c.246G>T p.S82= Synonymous 5/7 - 1
4-186382305-C-G c.246G>C p.S82= Synonymous 5/7 - 1
4-186382305-C-T c.246G>A p.S82= Synonymous 5/7 - 2
4-186382306-G-A c.245C>T p.S82L Missense 5/7 - 5
4-186382308-C-T c.243G>A p.Q81= Synonymous 5/7 - 1
4-186382312-A-G c.239T>C p.V80A Missense 5/7 - 1
4-186382407-A-T c.238-94T>A - IntronicSNV - 4/6 1
4-186383811-G-A c.223C>T p.Q75* Nonsense 4/7 - 1
4-186383812-C-A c.222G>T p.L74F Missense 4/7 - 1
4-186383812-C-G c.222G>C p.L74F Missense 4/7 - 1
4-186383814-A-ATGTTTGAAG c.219_220insCTTCAAACA p.T73_Q75dup InFrameInsertion 4/7 - 1
4-186383820-G-C c.214C>G p.Q72E Missense 4/7 - 1
4-186383823-T-A c.211A>T p.M71L Missense 4/7 - 1
4-186383823-T-G c.211A>C p.M71L Missense 4/7 - 1
4-186383835-G-A c.199C>T p.Q67* Nonsense 4/7 - 1
4-186383843-T-C c.191A>G p.E64G Missense 4/7 - 1
4-186383851-C-A c.183G>T p.Q61H Missense 4/7 - 1
4-186383851-C-G c.183G>C p.Q61H Missense 4/7 - 1
4-186384164-G-T c.155C>A p.P52Q Missense 3/7 - 4
4-186384165-G-A c.154C>T p.P52S Missense 3/7 - 2
4-186384172-T-A c.147A>T p.Q49H Missense 3/7 - 1
4-186384180-C-T c.139G>A p.E47K Missense 3/7 - 1
4-186384184-T-A c.135A>T p.E45D Missense 3/7 - 1
4-186384184-T-G c.135A>C p.E45D Missense 3/7 - 1
4-186384186-C-T c.133G>A p.E45K Missense 3/7 - 1
4-186384187-TGC-GTT c.130_132delinsAAC p.A44N Missense 3/7 - 1
4-186384194-C-A c.125G>T p.C42F Missense 3/7 - 2
4-186384194-C-G c.125G>C p.C42S Missense 3/7 - 1
4-186384195-A-T c.124T>A p.C42S Missense 3/7 - 1
4-186384203-T-C c.116A>G p.E39G Missense 3/7 - 1
4-186384203-T-G c.116A>C p.E39A Missense 3/7 - 1
4-186391759-G-A c.115+340C>T - IntronicSNV - 2/6 3
4-186391868-T-C c.115+231A>G - IntronicSNV - 2/6 4
4-186391898-C-T c.115+201G>A - IntronicSNV - 2/6 3
4-186392054-G-T c.115+45C>A - IntronicSNV - 2/6 1
4-186392097-A-C c.115+2T>G - IntronicSNV - 2/6 1
4-186392107-CT-TA c.106_107delinsTA p.S36Y Missense 2/7 - 1
4-186392108-T-C c.106A>G p.S36G Missense 2/7 - 1
4-186392112-GCC-TCA c.100_102delinsTGA p.G34* Nonsense 2/7 - 1
4-186392113-C-T c.101G>A p.G34D Missense 2/7 - 1
4-186392125-AC-TA c.88_89delinsTA p.V30* Nonsense 2/7 - 2
4-186392125-A-G c.89T>C p.V30A Missense 2/7 - 1
4-186392141-T-C c.73A>G p.N25D Missense 2/7 - 1
4-186392141-T-G c.73A>C p.N25H Missense 2/7 - 1
4-186392144-G-A c.70C>T p.L24= Synonymous 2/7 - 1
4-186392145-G-A c.69C>T p.I23= Synonymous 2/7 - 1
4-186392145-G-C c.69C>G p.I23M Missense 2/7 - 2
4-186392145-G-T c.69C>A p.I23= Synonymous 2/7 - 1
4-186392146-A-T c.68T>A p.I23N Missense 2/7 - 1
4-186392147-T-G c.67A>C p.I23L Missense 2/7 - 1
4-186392154-CGC-AAA c.58_60delinsTTT p.A20F Missense 2/7 - 1
4-186392154-CGC-ACA c.58_60delinsTGT p.A20C Missense 2/7 - 3
4-186392154-CG-GT c.59_60delinsAC p.A20D Missense 2/7 - 1
4-186392158-G-A c.56C>T p.S19L Missense 2/7 - 3
4-186392161-AG-CT c.52_53inv p.L18S Missense 2/7 - 1
4-186392174-C-T c.40G>A p.D14N Missense 2/7 - 1
4-186392182-T-G c.32A>C p.D11A Missense 2/7 - 1
4-186392194-T-C c.20A>G p.H7R Missense 2/7 - 1
4-186392198-G-A c.16C>T p.Q6* Nonsense 2/7 - 1
4-186392255-G-A c.11-52C>T - IntronicSNV - 1/6 2
4-186392255-G-T c.11-52C>A - IntronicSNV - 1/6 2
4-186392287-C-A c.11-84G>T - IntronicSNV - 1/6 2
4-186392287-C-G c.11-84G>C - IntronicSNV - 1/6 2
4-186392299-A-G c.11-96T>C - IntronicSNV - 1/6 1
4-186392301-C-A c.11-98G>T - IntronicSNV - 1/6 1
4-186392301-C-G c.11-98G>C - IntronicSNV - 1/6 1
4-186392445-C-A c.11-242G>T - IntronicSNV - 1/6 1
4-186392445-C-G c.11-242G>C - IntronicSNV - 1/6 1
4-186392516-G-A c.10+312C>T - IntronicSNV - 1/6 1
4-186392608-C-T c.10+220G>A - IntronicSNV - 1/6 1
4-186392832-G-C c.6C>G p.S2R Missense 1/7 - 1
4-186392832-G-T c.6C>A p.S2R Missense 1/7 - 1
4-186392834-T-G c.4A>C p.S2R Missense 1/7 - 1
4-186392835-C-A c.3G>T p.M1? Missense 1/7 - 1
4-186392835-C-G c.3G>C p.M1? Missense 1/7 - 1
4-186392835-C-T c.3G>A p.M1? Missense 1/7 - 1
4-186392879-C-G c.-42G>C - 5-UTRSNV 1/7 - 1
4-186392879-C-T c.-42G>A - 5-UTRSNV 1/7 - 1