ACAP2

ACAP2 ArfGAP with coiled-coil, ankyrin repeat and PH domains 2

Annotation transcript: NM_012287.6

748 unique variant annotations were identified in 252 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
3-194996737-A-C c.*3320T>G - 3-UTRSNV 23/23 - 4
3-194996737-A-G c.*3320T>C - 3-UTRSNV 23/23 - 4
3-194997552-C-G c.*2505G>C - 3-UTRSNV 23/23 - 3
3-194997620-C-T c.*2437G>A - 3-UTRSNV 23/23 - 2
3-194998493-G-T c.*1564C>A - 3-UTRSNV 23/23 - 1
3-194998608-C-T c.*1449G>A - 3-UTRSNV 23/23 - 1
3-194998812-G-A c.*1245C>T - 3-UTRSNV 23/23 - 1
3-194998812-G-C c.*1245C>G - 3-UTRSNV 23/23 - 1
3-194999609-G-T c.*448C>A - 3-UTRSNV 23/23 - 4
3-194999664-T-C c.*393A>G - 3-UTRSNV 23/23 - 1
3-194999816-C-T c.*241G>A - 3-UTRSNV 23/23 - 1
3-194999891-A-G c.*166T>C - 3-UTRSNV 23/23 - 4
3-194999996-T-A c.*61A>T - 3-UTRSNV 23/23 - 9
3-195000059-A-T c.2335T>A p.*779Rext*12 Missense 23/23 - 2
3-195000060-G-C c.2334C>G p.F778L Missense 23/23 - 1
3-195000066-C-A c.2328G>T p.Q776H Missense 23/23 - 2
3-195000066-C-G c.2328G>C p.Q776H Missense 23/23 - 1
3-195000067-T-C c.2327A>G p.Q776R Missense 23/23 - 1
3-195000067-T-G c.2327A>C p.Q776P Missense 23/23 - 1
3-195000068-G-T c.2326C>A p.Q776K Missense 23/23 - 3
3-195000075-T-C c.2319A>G p.Q773= Synonymous 23/23 - 1
3-195000077-G-A c.2317C>T p.Q773* Nonsense 23/23 - 1
3-195000079-T-C c.2315A>G p.Q772R Missense 23/23 - 2
3-195000085-C-T c.2309G>A p.R770H Missense 23/23 - 2
3-195000086-G-A c.2308C>T p.R770C Missense 23/23 - 2
3-195000086-G-T c.2308C>A p.R770S Missense 23/23 - 1
3-195000100-G-T c.2294C>A p.P765Q Missense 23/23 - 2
3-195000106-T-A c.2288A>T p.N763I Missense 23/23 - 1
3-195000109-G-A c.2285C>T p.S762F Missense 23/23 - 1
3-195000113-C-T c.2281G>A p.A761T Missense 23/23 - 3
3-195000115-A-G c.2279T>C p.M760T Missense 23/23 - 2
3-195000119-G-A c.2275C>T p.Q759* Nonsense 23/23 - 4
3-195000121-G-A c.2273C>T p.S758F Missense 23/23 - 1
3-195000125-A-G c.2269T>C p.F757L Missense 23/23 - 1
3-195000121-GA-G c.2272del p.S758Pfs*11 Frameshift 23/23 - 1
3-195000126-A-G c.2268T>C p.D756= Synonymous 23/23 - 1
3-195000130-C-T c.2264G>A p.R755H Missense 23/23 - 5
3-195000131-G-A c.2263C>T p.R755C Missense 23/23 - 1
3-195000141-C-A c.2253G>T p.Q751H Missense 23/23 - 1
3-195000152-C-A c.2242G>T p.E748* Nonsense 23/23 - 1
3-195000152-C-T c.2242G>A p.E748K Missense 23/23 - 2
3-195000203-T-G c.2237-46A>C - IntronicSNV - 22/22 1
3-195003413-C-T c.2236+3112G>A - IntronicSNV - 22/22 1
3-195005887-C-T c.2236+638G>A - IntronicSNV - 22/22 1
3-195006056-AT-A c.2236+468del - IntronicDeletion - 22/22 1
3-195006113-A-C c.2236+412T>G - IntronicSNV - 22/22 1
3-195006526-T-C c.2235A>G p.P745= Synonymous 22/23 - 2
3-195006529-C-A c.2232G>T p.Q744H Missense 22/23 - 2
3-195006529-C-G c.2232G>C p.Q744H Missense 22/23 - 1
3-195006539-A-T c.2222T>A p.L741H Missense 22/23 - 1
3-195006553-C-A c.2208G>T p.R736= Synonymous 22/23 - 1
3-195006553-C-G c.2208G>C p.R736= Synonymous 22/23 - 1
3-195006553-C-T c.2208G>A p.R736= Synonymous 22/23 - 1
3-195006555-G-A c.2206C>T p.R736W Missense 22/23 - 1
3-195006555-G-T c.2206C>A p.R736= Synonymous 22/23 - 1
3-195006559-C-G c.2202G>C p.E734D Missense 22/23 - 1
3-195006559-C-T c.2202G>A p.E734= Synonymous 22/23 - 1
3-195006575-G-A c.2186C>T p.A729V Missense 22/23 - 2
3-195006576-C-T c.2185G>A p.A729T Missense 22/23 - 1
3-195006578-A-C c.2183T>G p.L728* Nonsense 22/23 - 1
3-195006578-A-T c.2183T>A p.L728* Nonsense 22/23 - 1
3-195006580-AC-TT c.2180_2181delinsAA p.R727Q Missense 22/23 - 1
3-195006581-C-T c.2180G>A p.R727H Missense 22/23 - 3
3-195006791-C-A c.2175-205G>T - IntronicSNV - 21/22 2
3-195006791-C-T c.2175-205G>A - IntronicSNV - 21/22 2
3-195009854-T-G c.2170A>C p.T724P Missense 21/23 - 1
3-195009856-A-G c.2168T>C p.V723A Missense 21/23 - 1
3-195009863-C-A c.2161G>T p.D721Y Missense 21/23 - 1
3-195009868-T-A c.2156A>T p.N719I Missense 21/23 - 1
3-195009868-T-C c.2156A>G p.N719S Missense 21/23 - 1
3-195009875-C-G c.2149G>C p.A717P Missense 21/23 - 1
3-195009879-CAC-GAT c.2143_2145delinsATC p.V715I Missense 21/23 - 1
3-195009889-C-A c.2135G>T p.S712I Missense 21/23 - 1
3-195009893-A-G c.2131T>C p.L711= Synonymous 21/23 - 2
3-195009895-G-A c.2129C>T p.P710L Missense 21/23 - 1
3-195009895-G-C c.2129C>G p.P710R Missense 21/23 - 1
3-195009904-C-G c.2120G>C p.G707A Missense 21/23 - 1
3-195009905-C-A c.2119G>T p.G707W Missense 21/23 - 1
3-195009907-T-C c.2117A>G p.E706G Missense 21/23 - 1
3-195009916-G-A c.2108C>T p.T703I Missense 21/23 - 3
3-195009928-T-C c.2096A>G p.N699S Missense 21/23 - 1
3-195009934-C-T c.2090G>A p.G697D Missense 21/23 - 1
3-195009937-C-T c.2087G>A p.R696Q Missense 21/23 - 3
3-195009938-G-A c.2086C>T p.R696* Nonsense 21/23 - 1
3-195009952-C-T c.2072G>A p.C691Y Missense 21/23 - 1
3-195009954-T-A c.2070A>T p.V690= Synonymous 21/23 - 3
3-195009954-T-C c.2070A>G p.V690= Synonymous 21/23 - 2
3-195009954-T-G c.2070A>C p.V690= Synonymous 21/23 - 2
3-195009955-A-C c.2069T>G p.V690G Missense 21/23 - 1
3-195009955-A-T c.2069T>A p.V690E Missense 21/23 - 1
3-195009959-G-C c.2065C>G p.Q689E Missense 21/23 - 1
3-195009960-C-T c.2064G>A p.G688= Synonymous 21/23 - 1
3-195009994-C-A c.2064-34G>T - IntronicSNV - 20/22 1
3-195009994-C-T c.2064-34G>A - IntronicSNV - 20/22 1
3-195011581-T-A c.2063+854A>T - IntronicSNV - 20/22 1
3-195011582-A-T c.2063+853T>A - IntronicSNV - 20/22 1
3-195012433-A-T c.2063+2T>A - IntronicSNV - 20/22 1
3-195012437-T-A c.2061A>T p.T687= Synonymous 20/23 - 1
3-195012437-T-C c.2061A>G p.T687= Synonymous 20/23 - 1
3-195012437-T-G c.2061A>C p.T687= Synonymous 20/23 - 1
3-195012440-G-A c.2058C>T p.H686= Synonymous 20/23 - 1
3-195012456-G-A c.2042C>T p.A681V Missense 20/23 - 1
3-195012456-G-T c.2042C>A p.A681D Missense 20/23 - 1
3-195012457-C-A c.2041G>T p.A681S Missense 20/23 - 1
3-195012457-C-T c.2041G>A p.A681T Missense 20/23 - 1
3-195012462-T-A c.2036A>T p.H679L Missense 20/23 - 1
3-195012463-G-A c.2035C>T p.H679Y Missense 20/23 - 1
3-195012468-G-A c.2030C>T p.P677L Missense 20/23 - 1
3-195012473-C-T c.2025G>A p.R675= Synonymous 20/23 - 2
3-195012473-C-A c.2025G>T p.R675= Synonymous 20/23 - 1
3-195012473-C-G c.2025G>C p.R675= Synonymous 20/23 - 1
3-195012475-G-A c.2023C>T p.R675W Missense 20/23 - 1
3-195012475-G-T c.2023C>A p.R675= Synonymous 20/23 - 1
3-195012484-C-G c.2014G>C p.V672L Missense 20/23 - 4
3-195012486-T-C c.2012A>G p.D671G Missense 20/23 - 1
3-195012507-C-T c.1991G>A p.G664D Missense 20/23 - 1
3-195012518-G-A c.1980C>T p.L660= Synonymous 20/23 - 1
3-195012518-G-C c.1980C>G p.L660= Synonymous 20/23 - 1
3-195012518-G-T c.1980C>A p.L660= Synonymous 20/23 - 1
3-195012520-G-C c.1978C>G p.L660V Missense 20/23 - 1
3-195012523-A-G c.1975T>C p.F659L Missense 20/23 - 1
3-195012530-C-T c.1968G>A p.T656= Synonymous 20/23 - 1
3-195012536-C-G c.1962G>C p.L654F Missense 20/23 - 2
3-195012540-G-C c.1958C>G p.S653C Missense 20/23 - 1
3-195012544-C-A c.1954G>T p.G652C Missense 20/23 - 1
3-195012630-G-A c.1954-86C>T - IntronicSNV - 19/22 1
3-195012862-T-C c.1953+132A>G - IntronicSNV - 19/22 1
3-195012933-A-G c.1953+61T>C - IntronicSNV - 19/22 3
3-195012941-AT-A c.1953+52del - IntronicDeletion - 19/22 1
3-195012994-C-T c.1953G>A p.G651= Synonymous 19/23 - 1
3-195013000-T-C c.1947A>G p.V649= Synonymous 19/23 - 1
3-195013001-A-G c.1946T>C p.V649A Missense 19/23 - 2
3-195013010-A-T c.1937T>A p.I646N Missense 19/23 - 2
3-195013011-T-A c.1936A>T p.I646F Missense 19/23 - 1
3-195013013-A-T c.1934T>A p.L645H Missense 19/23 - 1
3-195013016-G-A c.1931C>T p.P644L Missense 19/23 - 1
3-195013021-C-T c.1926G>A p.A642= Synonymous 19/23 - 1
3-195013022-G-A c.1925C>T p.A642V Missense 19/23 - 4
3-195013030-T-A c.1917A>T p.E639D Missense 19/23 - 1
3-195013030-T-G c.1917A>C p.E639D Missense 19/23 - 1
3-195013035-C-G c.1912G>C p.E638Q Missense 19/23 - 1
3-195013040-T-C c.1907A>G p.N636S Missense 19/23 - 1
3-195013042-G-A c.1905C>T p.A635= Synonymous 19/23 - 1
3-195013042-G-C c.1905C>G p.A635= Synonymous 19/23 - 1
3-195013042-G-T c.1905C>A p.A635= Synonymous 19/23 - 1
3-195013043-G-A c.1904C>T p.A635V Missense 19/23 - 1
3-195013044-C-T c.1903G>A p.A635T Missense 19/23 - 1
3-195013052-A-G c.1895T>C p.V632A Missense 19/23 - 1
3-195013053-C-T c.1894G>A p.V632M Missense 19/23 - 1
3-195013057-T-C c.1890A>G p.A630= Synonymous 19/23 - 1
3-195013065-G-A c.1882C>T p.H628Y Missense 19/23 - 1
3-195013069-C-A c.1878G>T p.L626F Missense 19/23 - 1
3-195013069-C-G c.1878G>C p.L626F Missense 19/23 - 1
3-195013065-GAGCCAA-G c.1876_1881del p.L626_A627del InFrameDeletion 19/23 - 1
3-195013077-C-T c.1870G>A p.E624K Missense 19/23 - 2
3-195013080-C-T c.1867G>A p.A623T Missense 19/23 - 1
3-195013086-T-A c.1861A>T p.K621* Nonsense 19/23 - 1
3-195013089-G-A c.1858C>T p.P620S Missense 19/23 - 1
3-195013092-G-A c.1855C>T p.L619F Missense 19/23 - 1
3-195013094-T-C c.1853A>G p.N618S Missense 19/23 - 6
3-195013094-T-G c.1853A>C p.N618T Missense 19/23 - 1
3-195013095-T-TA c.1851_1852insT p.N618* Nonsense 19/23 - 1
3-195013093-G-GT c.1853dup p.N618Kfs*4 Frameshift 19/23 - 1
3-195013093-GT-G c.1853del p.N618Tfs*15 Frameshift 19/23 - 3
3-195013108-C-T c.1839G>A p.A613= Synonymous 19/23 - 2
3-195013109-G-A c.1838C>T p.A613V Missense 19/23 - 2
3-195013111-C-T c.1836G>A p.R612= Synonymous 19/23 - 2
3-195013113-T-G c.1834A>C p.R612= Synonymous 19/23 - 2
3-195013126-TC-GT c.1820_1821delinsAC p.G607D Missense 19/23 - 1
3-195013132-A-G c.1815T>C p.N605= Synonymous 19/23 - 1
3-195013139-T-C c.1808A>G p.H603R Missense 19/23 - 1
3-195013148-T-A c.1799A>T p.D600V Missense 19/23 - 1
3-195013159-AG-TT c.1787_1788delinsAA p.S596* Nonsense 19/23 - 1
3-195013160-G-A c.1787C>T p.S596F Missense 19/23 - 1
3-195013160-GA-TT c.1786_1787delinsAA p.S596N Missense 19/23 - 1
3-195013158-TAGA-T c.1786_1788del p.S596del InFrameDeletion 19/23 - 1
3-195013163-G-C c.1784C>G p.S595C Missense 19/23 - 1
3-195013165-A-C c.1782T>G p.D594E Missense 19/23 - 1
3-195013167-C-G c.1780G>C p.D594H Missense 19/23 - 1
3-195013171-CC-GA c.1775_1776delinsTC p.R592I Missense 19/23 - 1
3-195013191-A-G c.1766-10T>C - IntronicSNV - 18/22 1
3-195013302-A-C c.1766-121T>G - IntronicSNV - 18/22 1
3-195015334-AAAATT-A c.1765+109_1765+113del - IntronicDeletion - 18/22 1
3-195015338-ATT-A c.1765+109_1765+110del - IntronicDeletion - 18/22 1
3-195015338-T-A c.1765+110A>T - IntronicSNV - 18/22 1
3-195015341-AT-A c.1765+107del - IntronicDeletion - 18/22 1
3-195015343-AT-A c.1765+105del - IntronicDeletion - 18/22 1
3-195015449-A-G c.1764T>C p.P588= Synonymous 18/23 - 1
3-195015452-C-G c.1761G>C p.E587D Missense 18/23 - 1
3-195015455-A-G c.1758T>C p.Y586= Synonymous 18/23 - 2
3-195015462-CT-AG c.1750_1751inv p.S584L Missense 18/23 - 1
3-195015464-A-G c.1749T>C p.N583= Synonymous 18/23 - 1
3-195015468-G-A c.1745C>T p.A582V Missense 18/23 - 1
3-195015470-T-A c.1743A>T p.S581= Synonymous 18/23 - 1
3-195015470-T-C c.1743A>G p.S581= Synonymous 18/23 - 2
3-195015470-T-G c.1743A>C p.S581= Synonymous 18/23 - 1
3-195015474-A-G c.1739T>C p.V580A Missense 18/23 - 1
3-195015475-C-A c.1738G>T p.V580L Missense 18/23 - 4
3-195015475-C-G c.1738G>C p.V580L Missense 18/23 - 3
3-195015477-G-A c.1736C>T p.T579M Missense 18/23 - 2
3-195015481-A-G c.1732T>C p.S578P Missense 18/23 - 2
3-195015484-G-T c.1729C>A p.P577T Missense 18/23 - 1
3-195015505-C-G c.1708G>C p.D570H Missense 18/23 - 1
3-195015528-T-C c.1685A>G p.D562G Missense 18/23 - 1
3-195016197-C-T c.1672+240G>A - IntronicSNV - 17/22 1
3-195016326-G-A c.1672+111C>T - IntronicSNV - 17/22 1
3-195016343-T-TA c.1672+93dup - IntronicInsertion - 17/22 1
3-195016438-T-A c.1671A>T p.S557= Synonymous 17/23 - 3
3-195016438-T-C c.1671A>G p.S557= Synonymous 17/23 - 4
3-195016438-T-G c.1671A>C p.S557= Synonymous 17/23 - 3
3-195016439-GA-CC c.1669_1670delinsGG p.S557G Missense 17/23 - 1
3-195016449-C-T c.1660G>A p.A554T Missense 17/23 - 1
3-195016467-C-T c.1642G>A p.D548N Missense 17/23 - 1
3-195016473-G-A c.1636C>T p.P546S Missense 17/23 - 1
3-195016475-C-A c.1634G>T p.G545V Missense 17/23 - 1
3-195016478-A-G c.1631T>C p.F544S Missense 17/23 - 1
3-195016486-A-C c.1623T>G p.I541M Missense 17/23 - 1
3-195016488-T-C c.1621A>G p.I541V Missense 17/23 - 1
3-195016491-T-C c.1618A>G p.S540G Missense 17/23 - 1
3-195016492-C-A c.1617G>T p.L539= Synonymous 17/23 - 1
3-195016492-C-G c.1617G>C p.L539= Synonymous 17/23 - 2
3-195016492-C-T c.1617G>A p.L539= Synonymous 17/23 - 1
3-195016494-G-A c.1615C>T p.L539= Synonymous 17/23 - 1
3-195016494-G-C c.1615C>G p.L539V Missense 17/23 - 1
3-195016498-C-A c.1611G>T p.K537N Missense 17/23 - 2
3-195016498-C-G c.1611G>C p.K537N Missense 17/23 - 3
3-195016504-T-C c.1605A>G p.E535= Synonymous 17/23 - 1
3-195016508-G-A c.1601C>T p.S534F Missense 17/23 - 1
3-195016510-A-C c.1599T>G p.S533R Missense 17/23 - 1
3-195016510-A-T c.1599T>A p.S533R Missense 17/23 - 1
3-195016512-T-G c.1597A>C p.S533R Missense 17/23 - 1
3-195016515-T-C c.1594A>G p.K532E Missense 17/23 - 1
3-195016519-G-A c.1590C>T p.V530= Synonymous 17/23 - 1
3-195016527-T-TA c.1581_1582insT p.K528* Nonsense 17/23 - 1
3-195016525-C-CT c.1583dup p.F529Vfs*4 Frameshift 17/23 - 1
3-195016525-CT-C c.1583del p.K528Sfs*12 Frameshift 17/23 - 4
3-195016535-T-C c.1574A>G p.Q525R Missense 17/23 - 1
3-195016541-G-C c.1568C>G p.P523R Missense 17/23 - 3
3-195016546-T-A c.1563A>T p.S521= Synonymous 17/23 - 1
3-195016546-T-C c.1563A>G p.S521= Synonymous 17/23 - 1
3-195016546-T-G c.1563A>C p.S521= Synonymous 17/23 - 1
3-195016553-G-A c.1556C>T p.S519L Missense 17/23 - 1
3-195016553-G-C c.1556C>G p.S519* Nonsense 17/23 - 1
3-195016553-G-T c.1556C>A p.S519* Nonsense 17/23 - 1
3-195016559-G-C c.1550C>G p.S517C Missense 17/23 - 1
3-195016576-T-A c.1533A>T p.K511N Missense 17/23 - 1
3-195016576-T-G c.1533A>C p.K511N Missense 17/23 - 1
3-195016577-T-A c.1532A>T p.K511I Missense 17/23 - 3
3-195016577-T-C c.1532A>G p.K511R Missense 17/23 - 2
3-195016579-CC-GA c.1529_1530delinsTC p.R510I Missense 17/23 - 1
3-195016581-T-A c.1528A>T p.R510W Missense 17/23 - 1
3-195016588-A-C c.1521T>G p.Y507* Nonsense 17/23 - 1
3-195016588-A-T c.1521T>A p.Y507* Nonsense 17/23 - 1
3-195016595-G-A c.1514C>T p.A505V Missense 17/23 - 2
3-195016608-C-T c.1501G>A p.A501T Missense 17/23 - 1
3-195016613-T-G c.1496A>C p.K499T Missense 17/23 - 4
3-195016620-G-T c.1489C>A p.Q497K Missense 17/23 - 1
3-195016626-C-T c.1488-5G>A - IntronicSNV - 16/22 3
3-195017572-T-C c.1487+347A>G - IntronicSNV - 16/22 1
3-195017897-G-A c.1487+22C>T - IntronicSNV - 16/22 4
3-195017917-A-G c.1487+2T>C - IntronicSNV - 16/22 1
3-195017930-T-A c.1476A>T p.Q492H Missense 16/23 - 1
3-195017930-T-G c.1476A>C p.Q492H Missense 16/23 - 1
3-195017932-G-A c.1474C>T p.Q492* Nonsense 16/23 - 1
3-195017934-G-A c.1472C>T p.P491L Missense 16/23 - 2
3-195017938-T-G c.1468A>C p.K490Q Missense 16/23 - 1
3-195017943-A-G c.1463T>C p.I488T Missense 16/23 - 1
3-195017952-T-G c.1454A>C p.K485T Missense 16/23 - 1
3-195017949-A-AT c.1456dup p.M486Nfs*30 Frameshift 16/23 - 1
3-195017976-C-T c.1430G>A p.R477Q Missense 16/23 - 3
3-195017983-T-C c.1423A>G p.I475V Missense 16/23 - 1
3-195017989-C-A c.1417G>T p.D473Y Missense 16/23 - 1
3-195017993-C-G c.1413G>C p.G471= Synonymous 16/23 - 1
3-195018005-C-T c.1401G>A p.M467I Missense 16/23 - 3
3-195018010-G-C c.1396C>G p.L466V Missense 16/23 - 1
3-195022006-G-A c.1395+298C>T - IntronicSNV - 15/22 1
3-195022313-T-C c.1386A>G p.E462= Synonymous 15/23 - 1
3-195022331-T-A c.1368A>T p.L456F Missense 15/23 - 1
3-195022333-A-C c.1366T>G p.L456V Missense 15/23 - 1
3-195022337-T-A c.1362A>T p.L454F Missense 15/23 - 1
3-195022341-G-C c.1358C>G p.S453C Missense 15/23 - 4
3-195022344-C-T c.1355G>A p.R452Q Missense 15/23 - 1
3-195022345-G-A c.1354C>T p.R452* Nonsense 15/23 - 1
3-195022359-T-G c.1340A>C p.H447P Missense 15/23 - 2
3-195022362-A-G c.1337T>C p.V446A Missense 15/23 - 1
3-195022365-C-T c.1334G>A p.G445E Missense 15/23 - 3
3-195022368-A-G c.1331T>C p.L444P Missense 15/23 - 1
3-195022368-A-T c.1331T>A p.L444H Missense 15/23 - 1
3-195022369-G-T c.1330C>A p.L444I Missense 15/23 - 2
3-195022428-G-A c.1326-55C>T - IntronicSNV - 14/22 6
3-195022534-G-C c.1325+161C>G - IntronicSNV - 14/22 3
3-195022534-G-T c.1325+161C>A - IntronicSNV - 14/22 4
3-195022592-A-C c.1325+103T>G - IntronicSNV - 14/22 2
3-195022657-C-T c.1325+38G>A - IntronicSNV - 14/22 3
3-195022695-C-T c.1325G>A p.R442Q Missense 14/23 - 3
3-195022704-C-T c.1316G>A p.G439E Missense 14/23 - 1
3-195022705-C-A c.1315G>T p.G439* Nonsense 14/23 - 1
3-195022705-C-G c.1315G>C p.G439R Missense 14/23 - 1
3-195022705-C-T c.1315G>A p.G439R Missense 14/23 - 1
3-195022712-C-A c.1308G>T p.E436D Missense 14/23 - 1
3-195022714-C-T c.1306G>A p.E436K Missense 14/23 - 1
3-195022715-G-A c.1305C>T p.I435= Synonymous 14/23 - 2
3-195022718-A-T c.1302T>A p.C434* Nonsense 14/23 - 1
3-195022724-G-A c.1296C>T p.T432= Synonymous 14/23 - 1
3-195022724-G-C c.1296C>G p.T432= Synonymous 14/23 - 1
3-195022724-G-T c.1296C>A p.T432= Synonymous 14/23 - 1
3-195022725-G-A c.1295C>T p.T432I Missense 14/23 - 3
3-195022729-T-C c.1291A>G p.I431V Missense 14/23 - 1
3-195022730-G-A c.1290C>T p.G430= Synonymous 14/23 - 1
3-195022730-G-C c.1290C>G p.G430= Synonymous 14/23 - 1
3-195022730-G-T c.1290C>A p.G430= Synonymous 14/23 - 1
3-195022735-AGGTTGATGCTGGCCCACCG-A c.1267_1285del p.R423Wfs*26 Frameshift 14/23 - 1
3-195022736-G-A c.1284C>T p.N428= Synonymous 14/23 - 1
3-195022746-G-A c.1274C>T p.A425V Missense 14/23 - 1
3-195022753-G-A c.1267C>T p.R423W Missense 14/23 - 2
3-195022754-T-A c.1266A>T p.P422= Synonymous 14/23 - 1
3-195022754-T-C c.1266A>G p.P422= Synonymous 14/23 - 1
3-195022754-T-G c.1266A>C p.P422= Synonymous 14/23 - 1
3-195022755-G-A c.1265C>T p.P422L Missense 14/23 - 5
3-195022759-C-A c.1261G>T p.D421Y Missense 14/23 - 1
3-195022765-G-C c.1255C>G p.L419V Missense 14/23 - 1
3-195022769-A-C c.1251T>G p.C417W Missense 14/23 - 1
3-195022769-A-G c.1251T>C p.C417= Synonymous 14/23 - 1
3-195022773-T-G c.1247A>C p.D416A Missense 14/23 - 1
3-195022774-C-A c.1246G>T p.D416Y Missense 14/23 - 3
3-195022779-C-T c.1241G>A p.C414Y Missense 14/23 - 1
3-195022792-C-A c.1228G>T p.G410C Missense 14/23 - 1
3-195022792-C-G c.1228G>C p.G410R Missense 14/23 - 1
3-195022794-G-A c.1226C>T p.P409L Missense 14/23 - 1
3-195022795-G-A c.1225C>T p.P409S Missense 14/23 - 1
3-195022796-G-C c.1224C>G p.I408M Missense 14/23 - 1
3-195022799-A-G c.1221T>C p.C407= Synonymous 14/23 - 1
3-195022802-C-T c.1218G>A p.Q406= Synonymous 14/23 - 1
3-195022806-A-G c.1214T>C p.V405A Missense 14/23 - 1
3-195022810-G-A c.1210C>T p.R404W Missense 14/23 - 2
3-195022813-G-A c.1207C>T p.Q403* Nonsense 14/23 - 1
3-195022818-G-A c.1202C>T p.A401V Missense 14/23 - 3
3-195022825-C-A c.1195G>T p.E399* Nonsense 14/23 - 1
3-195022827-C-A c.1193G>T p.G398V Missense 14/23 - 1
3-195022829-T-A c.1191A>T p.K397N Missense 14/23 - 1
3-195022835-T-A c.1185A>T p.L395F Missense 14/23 - 1
3-195022838-T-A c.1182A>T p.K394N Missense 14/23 - 1
3-195022838-T-G c.1182A>C p.K394N Missense 14/23 - 1
3-195022841-C-A c.1179G>T p.E393D Missense 14/23 - 1
3-195022841-C-G c.1179G>C p.E393D Missense 14/23 - 1
3-195022841-C-T c.1179G>A p.E393= Synonymous 14/23 - 1
3-195022847-G-A c.1173C>T p.S391= Synonymous 14/23 - 1
3-195022848-G-A c.1172C>T p.S391F Missense 14/23 - 1
3-195022852-C-A c.1168G>T p.E390* Nonsense 14/23 - 3
3-195022854-T-C c.1166A>G p.N389S Missense 14/23 - 1
3-195022857-C-T c.1163G>A p.G388E Missense 14/23 - 1
3-195022859-A-C c.1161T>G p.S387= Synonymous 14/23 - 1
3-195022859-A-G c.1161T>C p.S387= Synonymous 14/23 - 1
3-195022859-A-T c.1161T>A p.S387= Synonymous 14/23 - 1
3-195022864-C-T c.1156G>A p.D386N Missense 14/23 - 1
3-195022868-G-A c.1152C>T p.S384= Synonymous 14/23 - 1
3-195022872-C-T c.1148G>A p.G383E Missense 14/23 - 1
3-195022874-T-A c.1146A>T p.T382= Synonymous 14/23 - 1
3-195022874-T-C c.1146A>G p.T382= Synonymous 14/23 - 1
3-195022874-T-G c.1146A>C p.T382= Synonymous 14/23 - 1
3-195022881-G-A c.1139C>T p.P380L Missense 14/23 - 1
3-195022883-A-C c.1137T>G p.S379= Synonymous 14/23 - 1
3-195022883-A-G c.1137T>C p.S379= Synonymous 14/23 - 1
3-195022883-A-T c.1137T>A p.S379= Synonymous 14/23 - 1
3-195022884-GA-CG c.1135_1136delinsCG p.S379R Missense 14/23 - 1
3-195022890-T-A c.1130A>T p.K377I Missense 14/23 - 2
3-195022892-C-A c.1128G>T p.K376N Missense 14/23 - 1
3-195022892-C-G c.1128G>C p.K376N Missense 14/23 - 2
3-195026564-GA-G c.1116+675del - IntronicDeletion - 13/22 1
3-195026629-G-A c.1116+611C>T - IntronicSNV - 13/22 1
3-195027003-C-T c.1116+237G>A - IntronicSNV - 13/22 1
3-195027255-C-A c.1101G>T p.K367N Missense 13/23 - 1
3-195027255-C-G c.1101G>C p.K367N Missense 13/23 - 1
3-195027263-T-A c.1093A>T p.R365* Nonsense 13/23 - 1
3-195027268-G-T c.1088C>A p.A363D Missense 13/23 - 1
3-195027282-G-A c.1074C>T p.T358= Synonymous 13/23 - 2
3-195027282-G-C c.1074C>G p.T358= Synonymous 13/23 - 1
3-195027282-G-T c.1074C>A p.T358= Synonymous 13/23 - 2
3-195027284-T-C c.1072A>G p.T358A Missense 13/23 - 1
3-195027287-G-A c.1069C>T p.Q357* Nonsense 13/23 - 1
3-195027290-C-T c.1066G>A p.V356I Missense 13/23 - 1
3-195027303-T-C c.1053A>G p.A351= Synonymous 13/23 - 1
3-195027309-G-A c.1047C>T p.R349= Synonymous 13/23 - 4
3-195027309-G-C c.1047C>G p.R349= Synonymous 13/23 - 3
3-195027309-GCG-CCA c.1045_1047delinsTGG p.R349W Missense 13/23 - 1
3-195027309-G-T c.1047C>A p.R349= Synonymous 13/23 - 3
3-195027310-C-T c.1046G>A p.R349H Missense 13/23 - 6
3-195027311-G-A c.1045C>T p.R349C Missense 13/23 - 4
3-195027312-C-A c.1044G>T p.L348= Synonymous 13/23 - 1
3-195027317-T-C c.1039A>G p.K347E Missense 13/23 - 1
3-195027320-C-G c.1036G>C p.E346Q Missense 13/23 - 1
3-195027320-C-T c.1036G>A p.E346K Missense 13/23 - 1
3-195027322-G-A c.1034C>T p.S345F Missense 13/23 - 1
3-195027329-C-T c.1027G>A p.A343T Missense 13/23 - 1
3-195027330-C-A c.1026G>T p.Q342H Missense 13/23 - 1
3-195027330-C-G c.1026G>C p.Q342H Missense 13/23 - 1
3-195027339-G-A c.1017C>T p.C339= Synonymous 13/23 - 6
3-195027344-CTT-C c.1011_1012del p.S338Lfs*16 SpliceAcceptorDeletion 13/23 - 1
3-195027489-T-C c.1011-144A>G - IntronicSNV - 12/22 1
3-195027596-C-A c.1011-251G>T - IntronicSNV - 12/22 1
3-195027645-T-C c.1011-300A>G - IntronicSNV - 12/22 1
3-195027822-A-T c.1010+130T>A - IntronicSNV - 12/22 2
3-195027954-T-A c.1008A>T p.T336= Synonymous 12/23 - 1
3-195027954-T-C c.1008A>G p.T336= Synonymous 12/23 - 1
3-195027954-T-G c.1008A>C p.T336= Synonymous 12/23 - 1
3-195027960-C-A c.1002G>T p.S334= Synonymous 12/23 - 1
3-195027960-C-G c.1002G>C p.S334= Synonymous 12/23 - 1
3-195027960-C-T c.1002G>A p.S334= Synonymous 12/23 - 2
3-195027982-C-A c.980G>T p.R327L Missense 12/23 - 1
3-195027985-C-T c.977G>A p.R326Q Missense 12/23 - 1
3-195027995-C-G c.967G>C p.D323H Missense 12/23 - 1
3-195027998-C-G c.964G>C p.E322Q Missense 12/23 - 1
3-195027998-C-CA c.963dup p.E322* Nonsense 12/23 - 1
3-195028003-T-C c.959A>G p.H320R Missense 12/23 - 2
3-195028018-A-C c.944T>G p.L315R Missense 12/23 - 1
3-195028020-CCT-ATG c.940_942delinsCAT p.R314H Missense 12/23 - 1
3-195028024-A-C c.938T>G p.L313R Missense 12/23 - 1
3-195028031-C-A c.931G>T p.E311* Nonsense 12/23 - 2
3-195028032-A-C c.930T>G p.V310= Synonymous 12/23 - 1
3-195028032-A-G c.930T>C p.V310= Synonymous 12/23 - 1
3-195028032-A-T c.930T>A p.V310= Synonymous 12/23 - 1
3-195028038-C-T c.924G>A p.V308= Synonymous 12/23 - 2
3-195028044-C-A c.918G>T p.P306= Synonymous 12/23 - 1
3-195028044-C-G c.918G>C p.P306= Synonymous 12/23 - 1
3-195028044-C-T c.918G>A p.P306= Synonymous 12/23 - 2
3-195028045-G-A c.917C>T p.P306L Missense 12/23 - 2
3-195028052-C-T c.910G>A p.D304N Missense 12/23 - 1
3-195028185-G-A c.910-133C>T - IntronicSNV - 11/22 1
3-195028284-A-C c.910-232T>G - IntronicSNV - 11/22 1
3-195029427-A-C c.909+88T>G - IntronicSNV - 11/22 1
3-195029500-T-C c.909+15A>G - IntronicSNV - 11/22 2
3-195029516-T-A c.908A>T p.K303M Missense 11/23 - 1
3-195029522-T-A c.902A>T p.K301I Missense 11/23 - 1
3-195029528-T-C c.896A>G p.Q299R Missense 11/23 - 1
3-195029547-T-TA c.876_877insT p.N293* Nonsense 11/23 - 1
3-195029549-T-C c.875A>G p.Q292R Missense 11/23 - 1
3-195029557-A-C c.867T>G p.F289L Missense 11/23 - 2
3-195029557-A-T c.867T>A p.F289L Missense 11/23 - 2
3-195029559-A-G c.865T>C p.F289L Missense 11/23 - 3
3-195029563-G-A c.861C>T p.R287= Synonymous 11/23 - 1
3-195029565-G-A c.859C>T p.R287C Missense 11/23 - 1
3-195029736-C-A c.858-170G>T - IntronicSNV - 10/22 1
3-195029736-C-T c.858-170G>A - IntronicSNV - 10/22 1
3-195029738-G-T c.858-172C>A - IntronicSNV - 10/22 1
3-195029738-G-GAAAGT c.858-173_858-172insACTTT - IntronicInsertion - 10/22 3
3-195029743-A-T c.858-177T>A - IntronicSNV - 10/22 1
3-195037276-G-A c.857+4154C>T - IntronicSNV - 10/22 1
3-195038287-C-T c.857+3143G>A - IntronicSNV - 10/22 1
3-195041341-A-G c.857+89T>C - IntronicSNV - 10/22 2
3-195041443-T-C c.844A>G p.K282E Missense 10/23 - 2
3-195041449-C-T c.838G>A p.A280T Missense 10/23 - 1
3-195041453-G-A c.834C>T p.S278= Synonymous 10/23 - 1
3-195041457-G-A c.830C>T p.A277V Missense 10/23 - 1
3-195041458-C-T c.829G>A p.A277T Missense 10/23 - 1
3-195041468-CAG-GAT c.817_819delinsATC p.L273I Missense 10/23 - 1
3-195041469-A-G c.818T>C p.L273P Missense 10/23 - 1
3-195041470-G-T c.817C>A p.L273M Missense 10/23 - 1
3-195041472-T-C c.815A>G p.Y272C Missense 10/23 - 1
3-195041483-AAC-CAT c.802_804delinsATG p.V268M Missense 10/23 - 1
3-195041487-A-G c.800T>C p.I267T Missense 10/23 - 1
3-195041489-G-C c.798C>G p.G266= Synonymous 10/23 - 1
3-195041490-C-T c.797G>A p.G266D Missense 10/23 - 1
3-195041506-C-A c.781G>T p.V261L Missense 10/23 - 1
3-195041506-C-G c.781G>C p.V261L Missense 10/23 - 1
3-195041506-C-T c.781G>A p.V261I Missense 10/23 - 2
3-195041507-G-A c.780C>T p.N260= Synonymous 10/23 - 3
3-195041507-G-C c.780C>G p.N260K Missense 10/23 - 1
3-195041507-G-T c.780C>A p.N260K Missense 10/23 - 1
3-195041515-C-CA c.771_772insT p.E258* Nonsense 10/23 - 1
3-195041515-C-T c.772G>A p.E258K Missense 10/23 - 1
3-195041517-A-C c.770T>G p.L257* Nonsense 10/23 - 1
3-195041517-A-T c.770T>A p.L257* Nonsense 10/23 - 1
3-195041537-G-A c.750C>T p.F250= Synonymous 10/23 - 1
3-195041537-G-C c.750C>G p.F250L Missense 10/23 - 1
3-195041537-G-T c.750C>A p.F250L Missense 10/23 - 1
3-195041539-A-G c.748T>C p.F250L Missense 10/23 - 1
3-195041540-A-C c.747T>G p.D249E Missense 10/23 - 2
3-195041540-A-T c.747T>A p.D249E Missense 10/23 - 1
3-195041548-C-A c.745-6G>T - IntronicSNV - 9/22 1
3-195041548-C-G c.745-6G>C - IntronicSNV - 9/22 1
3-195041548-C-T c.745-6G>A - IntronicSNV - 9/22 1
3-195043119-G-T c.745-1577C>A - IntronicSNV - 9/22 1
3-195046143-ATTT-A c.744+1468_744+1470del - IntronicDeletion - 9/22 1
3-195046143-ATT-A c.744+1469_744+1470del - IntronicDeletion - 9/22 2
3-195046143-AT-A c.744+1470del - IntronicDeletion - 9/22 1
3-195046293-A-G c.744+1321T>C - IntronicSNV - 9/22 1
3-195046322-T-A c.744+1292A>T - IntronicSNV - 9/22 1
3-195047258-A-G c.744+356T>C - IntronicSNV - 9/22 1
3-195047498-G-A c.744+116C>T - IntronicSNV - 9/22 1
3-195047585-A-G c.744+29T>C - IntronicSNV - 9/22 1
3-195047604-C-T c.744+10G>A - IntronicSNV - 9/22 1
3-195047612-A-G c.744+2T>C - IntronicSNV - 9/22 1
3-195047614-C-A c.744G>T p.K248N Missense 9/23 - 1
3-195047614-C-G c.744G>C p.K248N Missense 9/23 - 1
3-195047622-G-A c.736C>T p.Q246* Nonsense 9/23 - 3
3-195047626-G-A c.732C>T p.T244= Synonymous 9/23 - 1
3-195047634-GT-G c.723del p.K241Nfs*17 Frameshift 9/23 - 1
3-195047643-C-T c.715G>A p.E239K Missense 9/23 - 1
3-195047644-C-A c.714G>T p.M238I Missense 9/23 - 2
3-195047644-C-G c.714G>C p.M238I Missense 9/23 - 2
3-195047644-C-T c.714G>A p.M238I Missense 9/23 - 2
3-195047645-A-G c.713T>C p.M238T Missense 9/23 - 1
3-195047646-T-C c.712A>G p.M238V Missense 9/23 - 1
3-195047650-T-C c.708A>G p.R236= Synonymous 9/23 - 1
3-195047650-TCT-CCA c.706_708delinsTGG p.R236W Missense 9/23 - 1
3-195047659-C-A c.699G>T p.K233N Missense 9/23 - 1
3-195047659-C-G c.699G>C p.K233N Missense 9/23 - 1
3-195047660-T-G c.698A>C p.K233T Missense 9/23 - 2
3-195047663-G-A c.695C>T p.A232V Missense 9/23 - 1
3-195047668-A-C c.690T>G p.D230E Missense 9/23 - 1
3-195047668-A-T c.690T>A p.D230E Missense 9/23 - 1
3-195047676-C-T c.682G>A p.V228I Missense 9/23 - 1
3-195047681-C-T c.677G>A p.R226Q Missense 9/23 - 2
3-195047727-A-C c.670-39T>G - IntronicSNV - 8/22 1
3-195047747-A-C c.670-59T>G - IntronicSNV - 8/22 1
3-195047756-C-A c.670-68G>T - IntronicSNV - 8/22 1
3-195047777-T-TA c.670-90dup - IntronicInsertion - 8/22 1
3-195047856-T-C c.670-168A>G - IntronicSNV - 8/22 1
3-195047912-C-A c.670-224G>T - IntronicSNV - 8/22 2
3-195047912-C-T c.670-224G>A - IntronicSNV - 8/22 2
3-195051895-A-G c.669+1862T>C - IntronicSNV - 8/22 1
3-195052426-A-T c.669+1331T>A - IntronicSNV - 8/22 1
3-195053768-G-A c.658C>T p.L220F Missense 8/23 - 1
3-195053777-T-A c.649A>T p.M217L Missense 8/23 - 1
3-195053777-T-G c.649A>C p.M217L Missense 8/23 - 1
3-195053781-G-C c.645C>G p.P215= Synonymous 8/23 - 1
3-195053804-C-T c.622G>A p.D208N Missense 8/23 - 1
3-195053808-T-A c.618A>T p.G206= Synonymous 8/23 - 1
3-195053808-T-C c.618A>G p.G206= Synonymous 8/23 - 1
3-195053808-T-G c.618A>C p.G206= Synonymous 8/23 - 1
3-195053810-C-T c.616G>A p.G206R Missense 8/23 - 1
3-195053811-T-A c.615A>T p.Q205H Missense 8/23 - 1
3-195053816-G-C c.610C>G p.H204D Missense 8/23 - 1
3-195053824-G-A c.602C>T p.A201V Missense 8/23 - 1
3-195053825-C-T c.601G>A p.A201T Missense 8/23 - 1
3-195053828-A-T c.598T>A p.L200M Missense 8/23 - 1
3-195053838-C-T c.588G>A p.M196I Missense 8/23 - 1
3-195053852-T-A c.574A>T p.M192L Missense 8/23 - 2
3-195053852-T-G c.574A>C p.M192L Missense 8/23 - 1
3-195053897-T-C c.574-45A>G - IntronicSNV - 7/22 2
3-195053916-C-T c.574-64G>A - IntronicSNV - 7/22 4
3-195054032-G-A c.574-180C>T - IntronicSNV - 7/22 1
3-195054032-G-C c.574-180C>G - IntronicSNV - 7/22 1
3-195057066-G-A c.573+595C>T - IntronicSNV - 7/22 1
3-195057661-T-A c.573A>T p.S191= Synonymous 7/23 - 1
3-195057661-T-C c.573A>G p.S191= Synonymous 7/23 - 1
3-195057661-T-G c.573A>C p.S191= Synonymous 7/23 - 1
3-195057662-GA-CC c.571_572delinsGG p.S191G Missense 7/23 - 1
3-195057668-AG-TA c.565_566delinsTA p.L189* Nonsense 7/23 - 1
3-195057677-G-A c.557C>T p.S186L Missense 7/23 - 1
3-195057678-A-G c.556T>C p.S186P Missense 7/23 - 1
3-195057686-T-C c.548A>G p.K183R Missense 7/23 - 1
3-195057689-G-A c.545C>T p.S182L Missense 7/23 - 1
3-195057695-A-C c.539T>G p.L180R Missense 7/23 - 1
3-195057696-G-T c.538C>A p.L180I Missense 7/23 - 1
3-195057699-C-T c.535G>A p.V179I Missense 7/23 - 1
3-195057700-A-G c.534T>C p.N178= Synonymous 7/23 - 1
3-195059278-C-A c.529-1573G>T - IntronicSNV - 6/22 1
3-195059278-C-T c.529-1573G>A - IntronicSNV - 6/22 1
3-195060872-G-A c.528+2328C>T - IntronicSNV - 6/22 1
3-195063158-G-A c.528+42C>T - IntronicSNV - 6/22 1
3-195063202-G-A c.526C>T p.Q176* Nonsense 6/23 - 3
3-195063202-G-C c.526C>G p.Q176E Missense 6/23 - 1
3-195063205-G-A c.523C>T p.L175F Missense 6/23 - 3
3-195063206-C-A c.522G>T p.V174= Synonymous 6/23 - 1
3-195063206-C-G c.522G>C p.V174= Synonymous 6/23 - 1
3-195063206-C-T c.522G>A p.V174= Synonymous 6/23 - 1
3-195063214-C-T c.514G>A p.D172N Missense 6/23 - 4
3-195063215-G-A c.513C>T p.L171= Synonymous 6/23 - 1
3-195063219-G-A c.509C>T p.A170V Missense 6/23 - 1
3-195063225-T-A c.503A>T p.H168L Missense 6/23 - 3
3-195063231-A-G c.497T>C p.F166S Missense 6/23 - 1
3-195063232-A-G c.496T>C p.F166L Missense 6/23 - 1
3-195063236-T-C c.492A>G p.K164= Synonymous 6/23 - 1
3-195063239-TCT-ACA c.487_489delinsTGT p.R163C Missense 6/23 - 2
3-195063240-CT-TG c.487_488delinsCA p.R163Q Missense 6/23 - 1
3-195063241-T-A c.487A>T p.R163* Nonsense 6/23 - 3
3-195063243-G-T c.485C>A p.T162K Missense 6/23 - 1
3-195063251-C-A c.477G>T p.L159= Synonymous 6/23 - 1
3-195063251-C-G c.477G>C p.L159= Synonymous 6/23 - 1
3-195063251-C-T c.477G>A p.L159= Synonymous 6/23 - 1
3-195063253-G-A c.475C>T p.L159= Synonymous 6/23 - 1
3-195063261-G-A c.467C>T p.T156I Missense 6/23 - 1
3-195063261-G-C c.467C>G p.T156S Missense 6/23 - 1
3-195063263-G-A c.465C>T p.A155= Synonymous 6/23 - 3
3-195063263-G-C c.465C>G p.A155= Synonymous 6/23 - 2
3-195063263-G-T c.465C>A p.A155= Synonymous 6/23 - 2
3-195063265-C-T c.463G>A p.A155T Missense 6/23 - 1
3-195063266-T-C c.462A>G p.E154= Synonymous 6/23 - 1
3-195063274-C-G c.454G>C p.V152L Missense 6/23 - 1
3-195063281-T-A c.447A>T p.Q149H Missense 6/23 - 1
3-195063285-T-C c.443A>G p.K148R Missense 6/23 - 1
3-195063291-C-A c.437G>T p.R146I Missense 6/23 - 4
3-195063296-T-A c.432A>T p.V144= Synonymous 6/23 - 3
3-195063296-T-C c.432A>G p.V144= Synonymous 6/23 - 3
3-195063296-T-G c.432A>C p.V144= Synonymous 6/23 - 3
3-195063307-T-TA c.420_421insT p.N141* Nonsense 6/23 - 1
3-195063313-C-G c.415G>C p.V139L Missense 6/23 - 1
3-195063314-CTAA-C c.412_414del p.L138del InFrameDeletion 6/23 - 1
3-195063317-C-A c.411G>T p.A137= Synonymous 6/23 - 1
3-195063317-C-G c.411G>C p.A137= Synonymous 6/23 - 1
3-195063317-C-T c.411G>A p.A137= Synonymous 6/23 - 1
3-195063318-G-A c.410C>T p.A137V Missense 6/23 - 3
3-195063319-C-T c.409G>A p.A137T Missense 6/23 - 1
3-195063325-C-G c.403G>C p.E135Q Missense 6/23 - 2
3-195063330-T-G c.398A>C p.E133A Missense 6/23 - 1
3-195063331-C-G c.397G>C p.E133Q Missense 6/23 - 1
3-195063334-C-T c.394G>A p.E132K Missense 6/23 - 1
3-195063340-AC-A c.388del p.V130Sfs*9 Frameshift 6/23 - 1
3-195063346-C-T c.382G>A p.E128K Missense 6/23 - 8
3-195063347-G-A c.381C>T p.F127= Synonymous 6/23 - 5
3-195063351-T-A c.377A>T p.Q126L Missense 6/23 - 1
3-195063352-G-A c.376C>T p.Q126* Nonsense 6/23 - 1
3-195063361-C-A c.367G>T p.A123S Missense 6/23 - 1
3-195063362-A-G c.366T>C p.D122= Synonymous 6/23 - 1
3-195063364-C-A c.364G>T p.D122Y Missense 6/23 - 1
3-195063364-C-G c.364G>C p.D122H Missense 6/23 - 1
3-195063368-G-C c.360C>G p.F120L Missense 6/23 - 1
3-195063368-G-T c.360C>A p.F120L Missense 6/23 - 1
3-195063370-A-G c.358T>C p.F120L Missense 6/23 - 1
3-195063380-A-C c.348T>G p.D116E Missense 6/23 - 1
3-195063380-A-T c.348T>A p.D116E Missense 6/23 - 1
3-195063451-G-A c.345-68C>T - IntronicSNV - 5/22 1
3-195063453-G-A c.345-70C>T - IntronicSNV - 5/22 4
3-195065978-A-C c.344+10T>G - IntronicSNV - 5/22 1
3-195065978-A-G c.344+10T>C - IntronicSNV - 5/22 1
3-195065989-C-T c.343G>A p.E115K Missense 5/23 - 1
3-195066001-T-C c.331A>G p.N111D Missense 5/23 - 1
3-195066024-C-A c.308G>T p.R103I Missense 5/23 - 3
3-195066030-G-A c.302C>T p.T101I Missense 5/23 - 1
3-195066030-G-T c.302C>A p.T101N Missense 5/23 - 1
3-195066034-G-C c.298C>G p.Q100E Missense 5/23 - 1
3-195076877-C-G c.286-10831G>C - IntronicSNV - 4/22 5
3-195076877-C-T c.286-10831G>A - IntronicSNV - 4/22 5
3-195097389-G-A c.285+4349C>T - IntronicSNV - 4/22 1
3-195098532-G-A c.285+3206C>T - IntronicSNV - 4/22 1
3-195101743-G-A c.280C>T p.H94Y Missense 4/23 - 1
3-195101743-G-T c.280C>A p.H94N Missense 4/23 - 2
3-195101749-T-C c.274A>G p.N92D Missense 4/23 - 2
3-195101755-T-C c.268A>G p.M90V Missense 4/23 - 1
3-195101758-C-A c.265G>T p.E89* Nonsense 4/23 - 3
3-195101763-A-G c.260T>C p.L87P Missense 4/23 - 1
3-195101764-G-A c.259C>T p.L87F Missense 4/23 - 1
3-195101766-C-T c.257G>A p.S86N Missense 4/23 - 1
3-195101772-G-C c.251C>G p.S84C Missense 4/23 - 1
3-195102447-T-A c.231+185A>T - IntronicSNV - 3/22 3
3-195102630-A-G c.231+2T>C - IntronicSNV - 3/22 1
3-195102634-C-T c.229G>A p.E77K Missense 3/23 - 2
3-195102638-G-A c.225C>T p.V75= Synonymous 3/23 - 2
3-195102640-C-G c.223G>C p.V75L Missense 3/23 - 1
3-195102643-C-T c.220G>A p.A74T Missense 3/23 - 1
3-195102652-T-A c.211A>T p.S71C Missense 3/23 - 1
3-195102660-T-A c.203A>T p.Q68L Missense 3/23 - 2
3-195102661-G-A c.202C>T p.Q68* Nonsense 3/23 - 1
3-195102664-C-T c.199G>A p.A67T Missense 3/23 - 1
3-195102665-CAG-AAA c.196_198delinsTTT p.L66F Missense 3/23 - 2
3-195102672-C-T c.191G>A p.R64Q Missense 3/23 - 2
3-195102673-G-A c.190C>T p.R64* Nonsense 3/23 - 7
3-195102677-C-A c.186G>T p.G62= Synonymous 3/23 - 1
3-195102681-T-C c.182A>G p.N61S Missense 3/23 - 2
3-195102683-C-A c.180G>T p.M60I Missense 3/23 - 2
3-195102683-C-G c.180G>C p.M60I Missense 3/23 - 1
3-195102683-C-T c.180G>A p.M60I Missense 3/23 - 1
3-195102684-A-G c.179T>C p.M60T Missense 3/23 - 1
3-195102686-G-A c.177C>T p.F59= Synonymous 3/23 - 1
3-195102690-T-C c.173A>G p.Q58R Missense 3/23 - 2
3-195102697-T-G c.166A>C p.N56H Missense 3/23 - 2
3-195102716-T-A c.147A>T p.G49= Synonymous 3/23 - 1
3-195102716-T-C c.147A>G p.G49= Synonymous 3/23 - 1
3-195102716-T-G c.147A>C p.G49= Synonymous 3/23 - 1
3-195102720-GT-AC c.142_143inv p.T48V Missense 3/23 - 1
3-195102721-T-C c.142A>G p.T48A Missense 3/23 - 1
3-195102723-T-C c.140A>G p.D47G Missense 3/23 - 1
3-195102724-C-A c.139G>T p.D47Y Missense 3/23 - 1
3-195102724-C-T c.139G>A p.D47N Missense 3/23 - 1
3-195102728-C-A c.135G>T p.M45I Missense 3/23 - 1
3-195102728-C-G c.135G>C p.M45I Missense 3/23 - 1
3-195102728-C-T c.135G>A p.M45I Missense 3/23 - 1
3-195102729-A-C c.134T>G p.M45R Missense 3/23 - 1
3-195102729-A-G c.134T>C p.M45T Missense 3/23 - 3
3-195102746-C-A c.117G>T p.V39= Synonymous 3/23 - 2
3-195102746-C-G c.117G>C p.V39= Synonymous 3/23 - 1
3-195102746-C-T c.117G>A p.V39= Synonymous 3/23 - 1
3-195102787-T-A c.112-36A>T - IntronicSNV - 2/22 6
3-195102787-T-C c.112-36A>G - IntronicSNV - 2/22 6
3-195110925-CA-C c.111+1893del - IntronicDeletion - 2/22 1
3-195112702-C-T c.111+117G>A - IntronicSNV - 2/22 1
3-195112717-CTG-C c.111+100_111+101del - IntronicDeletion - 2/22 1
3-195112736-A-T c.111+83T>A - IntronicSNV - 2/22 1
3-195112820-TTATCAAGTTTTAG-T c.97_109del p.L33Sfs*3 Frameshift 2/23 - 1
3-195112843-T-A c.87A>T p.A29= Synonymous 2/23 - 3
3-195112843-T-C c.87A>G p.A29= Synonymous 2/23 - 1
3-195112843-T-G c.87A>C p.A29= Synonymous 2/23 - 1
3-195112843-TG-GT c.86_87delinsAC p.A29D Missense 2/23 - 1
3-195112844-GC-AG c.85_86delinsCT p.A29L Missense 2/23 - 1
3-195112844-GC-AT c.85_86delinsAT p.A29I Missense 2/23 - 2
3-195112844-G-T c.86C>A p.A29E Missense 2/23 - 1
3-195112845-C-A c.85G>T p.A29S Missense 2/23 - 2
3-195112845-C-T c.85G>A p.A29T Missense 2/23 - 1
3-195112848-C-A c.82G>T p.V28L Missense 2/23 - 1
3-195112848-C-G c.82G>C p.V28L Missense 2/23 - 1
3-195112848-C-T c.82G>A p.V28M Missense 2/23 - 1
3-195112851-C-A c.79G>T p.D27Y Missense 2/23 - 1
3-195112856-T-C c.74A>G p.E25G Missense 2/23 - 1
3-195112863-C-T c.67G>A p.E23K Missense 2/23 - 1
3-195112866-C-A c.64G>T p.E22* Nonsense 2/23 - 1
3-195112866-C-G c.64G>C p.E22Q Missense 2/23 - 1
3-195112870-AGC-CCA c.58_60delinsTGG p.A20W Missense 2/23 - 1
3-195112871-GC-AT c.58_59delinsAT p.A20I Missense 2/23 - 1
3-195112871-GC-CA c.58_59delinsTG p.A20C Missense 2/23 - 3
3-195112871-G-T c.59C>A p.A20D Missense 2/23 - 2
3-195112873-T-A c.57A>T p.A19= Synonymous 2/23 - 1
3-195112873-T-C c.57A>G p.A19= Synonymous 2/23 - 1
3-195112873-T-G c.57A>C p.A19= Synonymous 2/23 - 1
3-195112874-GC-TT c.55_56delinsAA p.A19K Missense 2/23 - 1
3-195112875-C-T c.55G>A p.A19T Missense 2/23 - 1
3-195112876-C-A c.54G>T p.R18S Missense 2/23 - 1
3-195112876-C-G c.54G>C p.R18S Missense 2/23 - 1
3-195117255-G-A c.54-4379C>T - IntronicSNV - 1/22 1
3-195120736-T-C c.54-7860A>G - IntronicSNV - 1/22 1
3-195121072-A-G c.54-8196T>C - IntronicSNV - 1/22 1
3-195121110-C-T c.54-8234G>A - IntronicSNV - 1/22 1
3-195130160-A-C c.54-17284T>G - IntronicSNV - 1/22 1
3-195130160-A-G c.54-17284T>C - IntronicSNV - 1/22 1
3-195131970-A-C c.54-19094T>G - IntronicSNV - 1/22 1
3-195133474-G-A c.54-20598C>T - IntronicSNV - 1/22 2
3-195133475-T-TAAC c.54-20602_54-20600dup - IntronicInsertion - 1/22 1
3-195133478-C-CAAA c.54-20603_54-20602insTTT - IntronicInsertion - 1/22 3
3-195133478-C-CAAT c.54-20603_54-20602insATT - IntronicInsertion - 1/22 3
3-195140143-T-A c.53+23381A>T - IntronicSNV - 1/22 1
3-195141790-G-A c.53+21734C>T - IntronicSNV - 1/22 1
3-195141790-G-C c.53+21734C>G - IntronicSNV - 1/22 1
3-195141790-G-T c.53+21734C>A - IntronicSNV - 1/22 1
3-195143887-A-G c.53+19637T>C - IntronicSNV - 1/22 1
3-195143886-GA-G c.53+19637del - IntronicDeletion - 1/22 1
3-195149078-C-T c.53+14446G>A - IntronicSNV - 1/22 1
3-195155912-CT-C c.53+7611del - IntronicDeletion - 1/22 1
3-195158522-C-T c.53+5002G>A - IntronicSNV - 1/22 1
3-195160974-CA-C c.53+2549del - IntronicDeletion - 1/22 1
3-195163512-C-T c.53+12G>A - IntronicSNV - 1/22 1
3-195163524-CT-TG c.52_53delinsCA p.R18Q Missense 1/23 - 1
3-195163530-C-G c.47G>C p.R16P Missense 1/23 - 1
3-195163531-G-A c.46C>T p.R16C Missense 1/23 - 2
3-195163539-T-G c.38A>C p.D13A Missense 1/23 - 1
3-195163543-T-C c.34A>G p.K12E Missense 1/23 - 1
3-195163555-C-T c.22G>A p.E8K Missense 1/23 - 1
3-195163556-G-A c.21C>T p.F7= Synonymous 1/23 - 2
3-195163575-A-T c.2T>A p.M1? Missense 1/23 - 1