BTK

BTK Bruton tyrosine kinase

Annotation transcript: NM_000061.3

9582 unique variant annotations were identified in 1364 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
X-100604681-C-T c.*192G>A - 3-UTRSNV 19/19 - 8
X-100604757-T-G c.*116A>C - 3-UTRSNV 19/19 - 14
X-100604880-T-C c.1973A>G p.E658G Missense 19/19 - 1
X-100604881-C-G c.1972G>C p.E658Q Missense 19/19 - 1
X-100604881-C-T c.1972G>A p.E658K Missense 19/19 - 1
X-100604883-T-C c.1970A>G p.E657G Missense 19/19 - 1
X-100604884-C-A c.1969G>T p.E657* Nonsense 19/19 - 1
X-100604885-ATC-CTT c.1966_1968delinsAAG p.D656K Missense 19/19 - 2
X-100604888-C-A c.1965G>T p.M655I Missense 19/19 - 2
X-100604888-C-G c.1965G>C p.M655I Missense 19/19 - 2
X-100604888-C-T c.1965G>A p.M655I Missense 19/19 - 2
X-100604889-A-C c.1964T>G p.M655R Missense 19/19 - 1
X-100604889-A-G c.1964T>C p.M655T Missense 19/19 - 1
X-100604889-A-T c.1964T>A p.M655K Missense 19/19 - 1
X-100604890-T-A c.1963A>T p.M655L Missense 19/19 - 1
X-100604890-T-C c.1963A>G p.M655V Missense 19/19 - 1
X-100604890-T-G c.1963A>C p.M655L Missense 19/19 - 1
X-100604891-GAC-CAT c.1960_1962delinsATG p.V654M Missense 19/19 - 1
X-100604891-GAC-CCA c.1960_1962delinsTGG p.V654W Missense 19/19 - 1
X-100604891-GAC-CTT c.1960_1962delinsAAG p.V654K Missense 19/19 - 1
X-100604891-GA-CT c.1961_1962delinsAG p.V654E Missense 19/19 - 1
X-100604891-GAC-TTG c.1960_1962delinsCAA p.V654Q Missense 19/19 - 1
X-100604892-A-C c.1961T>G p.V654G Missense 19/19 - 2
X-100604892-AC-CA c.1960_1961delinsTG p.V654C Missense 19/19 - 1
X-100604892-AC-CG c.1960_1961delinsCG p.V654R Missense 19/19 - 1
X-100604892-AC-CT c.1960_1961delinsAG p.V654S Missense 19/19 - 1
X-100604892-AC-GG c.1960_1961delinsCC p.V654P Missense 19/19 - 1
X-100604892-AC-GT c.1960_1961inv p.V654T Missense 19/19 - 1
X-100604892-AC-TA c.1960_1961delinsTA p.V654Y Missense 19/19 - 1
X-100604892-AC-TG c.1960_1961delinsCA p.V654H Missense 19/19 - 1
X-100604892-AC-TT c.1960_1961delinsAA p.V654N Missense 19/19 - 1
X-100604892-A-G c.1961T>C p.V654A Missense 19/19 - 16
X-100604892-A-T c.1961T>A p.V654D Missense 19/19 - 3
X-100604893-C-A c.1960G>T p.V654F Missense 19/19 - 2
X-100604893-C-G c.1960G>C p.V654L Missense 19/19 - 2
X-100604893-C-T c.1960G>A p.V654I Missense 19/19 - 4
X-100604894-A-C c.1959T>G p.D653E Missense 19/19 - 3
X-100604894-A-T c.1959T>A p.D653E Missense 19/19 - 3
X-100604894-ATC-CAT c.1957_1959delinsATG p.D653M Missense 19/19 - 1
X-100604894-ATC-CCA c.1957_1959delinsTGG p.D653W Missense 19/19 - 1
X-100604894-ATC-CTT c.1957_1959delinsAAG p.D653K Missense 19/19 - 1
X-100604894-ATC-TTG c.1957_1959delinsCAA p.D653Q Missense 19/19 - 1
X-100604895-T-A c.1958A>T p.D653V Missense 19/19 - 2
X-100604895-T-C c.1958A>G p.D653G Missense 19/19 - 2
X-100604895-TC-AA c.1957_1958delinsTT p.D653F Missense 19/19 - 1
X-100604895-TC-AG c.1957_1958delinsCT p.D653L Missense 19/19 - 1
X-100604895-TC-AT c.1957_1958delinsAT p.D653I Missense 19/19 - 1
X-100604895-TC-CA c.1957_1958delinsTG p.D653C Missense 19/19 - 1
X-100604895-TC-CG c.1957_1958delinsCG p.D653R Missense 19/19 - 1
X-100604895-TC-CT c.1957_1958delinsAG p.D653S Missense 19/19 - 1
X-100604895-TC-GG c.1957_1958delinsCC p.D653P Missense 19/19 - 1
X-100604895-TC-GT c.1957_1958delinsAC p.D653T Missense 19/19 - 1
X-100604895-T-G c.1958A>C p.D653A Missense 19/19 - 2
X-100604896-C-A c.1957G>T p.D653Y Missense 19/19 - 2
X-100604896-C-G c.1957G>C p.D653H Missense 19/19 - 2
X-100604896-C-T c.1957G>A p.D653N Missense 19/19 - 2
X-100604896-TC-T c.1957del p.D653Mfs*60 Frameshift 19/19 - 1
X-100604897-TA-AT c.1955_1956delinsAT p.L652H Missense 19/19 - 1
X-100604897-TAG-AAA c.1954_1956delinsTTT p.L652F Missense 19/19 - 2
X-100604897-TAG-ACA c.1954_1956delinsTGT p.L652C Missense 19/19 - 1
X-100604897-TAG-ATA c.1954_1956delinsTAT p.L652Y Missense 19/19 - 1
X-100604897-TAG-CAT c.1954_1956delinsATG p.L652M Missense 19/19 - 1
X-100604897-TAG-CCA c.1954_1956delinsTGG p.L652W Missense 19/19 - 1
X-100604897-TAG-GTC c.1954_1956delinsGAC p.L652D Missense 19/19 - 1
X-100604897-TAG-GTT c.1954_1956delinsAAC p.L652N Missense 19/19 - 1
X-100604898-A-C c.1955T>G p.L652R Missense 19/19 - 2
X-100604898-A-G c.1955T>C p.L652P Missense 19/19 - 8
X-100604898-AG-CC c.1954_1955delinsGG p.L652G Missense 19/19 - 1
X-100604898-AG-GA c.1954_1955delinsTC p.L652S Missense 19/19 - 1
X-100604898-AG-GC c.1954_1955delinsGC p.L652A Missense 19/19 - 1
X-100604898-AG-GT c.1954_1955delinsAC p.L652T Missense 19/19 - 1
X-100604898-AG-TC c.1954_1955delinsGA p.L652E Missense 19/19 - 1
X-100604898-AG-TT c.1954_1955delinsAA p.L652K Missense 19/19 - 1
X-100604898-A-T c.1955T>A p.L652Q Missense 19/19 - 2
X-100604899-G-A c.1954C>T p.L652= Synonymous 19/19 - 1
X-100604899-G-C c.1954C>G p.L652V Missense 19/19 - 4
X-100604899-G-T c.1954C>A p.L652I Missense 19/19 - 2
X-100604900-AA-CC c.1952_1953delinsGG p.I651R Missense 19/19 - 1
X-100604900-AA-CT c.1952_1953delinsAG p.I651K Missense 19/19 - 1
X-100604900-AAT-CCA c.1951_1953delinsTGG p.I651W Missense 19/19 - 1
X-100604900-AAT-CTC c.1951_1953delinsGAG p.I651E Missense 19/19 - 1
X-100604900-AAT-TTG c.1951_1953delinsCAA p.I651Q Missense 19/19 - 1
X-100604900-A-C c.1953T>G p.I651M Missense 19/19 - 2
X-100604899-GA-G c.1953del p.L652* Frameshift 19/19 - 1
X-100604901-A-C c.1952T>G p.I651S Missense 19/19 - 3
X-100604901-A-G c.1952T>C p.I651T Missense 19/19 - 4
X-100604901-A-T c.1952T>A p.I651N Missense 19/19 - 3
X-100604901-AT-CA c.1951_1952delinsTG p.I651C Missense 19/19 - 1
X-100604901-AT-CC c.1951_1952delinsGG p.I651G Missense 19/19 - 1
X-100604901-AT-GC c.1951_1952delinsGC p.I651A Missense 19/19 - 1
X-100604901-AT-GG c.1951_1952delinsCC p.I651P Missense 19/19 - 1
X-100604901-AT-TA c.1951_1952delinsTA p.I651Y Missense 19/19 - 1
X-100604901-AT-TC c.1951_1952delinsGA p.I651D Missense 19/19 - 1
X-100604901-AT-TG c.1951_1952delinsCA p.I651H Missense 19/19 - 1
X-100604902-T-A c.1951A>T p.I651F Missense 19/19 - 2
X-100604902-T-C c.1951A>G p.I651V Missense 19/19 - 2
X-100604902-T-G c.1951A>C p.I651L Missense 19/19 - 2
X-100604903-A-C c.1950T>G p.N650K Missense 19/19 - 3
X-100604903-A-T c.1950T>A p.N650K Missense 19/19 - 3
X-100604903-AT-CA c.1949_1950delinsTG p.N650M Missense 19/19 - 1
X-100604903-AT-CC c.1949_1950delinsGG p.N650R Missense 19/19 - 1
X-100604903-ATT-CCA c.1948_1950delinsTGG p.N650W Missense 19/19 - 1
X-100604903-ATT-CTC c.1948_1950delinsGAG p.N650E Missense 19/19 - 1
X-100604903-ATT-TTG c.1948_1950delinsCAA p.N650Q Missense 19/19 - 1
X-100604904-T-A c.1949A>T p.N650I Missense 19/19 - 2
X-100604904-T-C c.1949A>G p.N650S Missense 19/19 - 3
X-100604904-T-G c.1949A>C p.N650T Missense 19/19 - 2
X-100604904-TT-AA c.1948_1949inv p.N650F Missense 19/19 - 1
X-100604904-TT-AC c.1948_1949delinsGT p.N650V Missense 19/19 - 1
X-100604904-TT-AG c.1948_1949delinsCT p.N650L Missense 19/19 - 1
X-100604904-TT-CA c.1948_1949delinsTG p.N650C Missense 19/19 - 1
X-100604904-TT-CC c.1948_1949delinsGG p.N650G Missense 19/19 - 1
X-100604904-TT-GC c.1948_1949delinsGC p.N650A Missense 19/19 - 1
X-100604904-TT-GG c.1948_1949delinsCC p.N650P Missense 19/19 - 1
X-100604905-T-A c.1948A>T p.N650Y Missense 19/19 - 2
X-100604905-T-C c.1948A>G p.N650D Missense 19/19 - 3
X-100604905-T-G c.1948A>C p.N650H Missense 19/19 - 2
X-100604906-G-C c.1947C>G p.S649R Missense 19/19 - 2
X-100604906-GC-CA c.1946_1947delinsTG p.S649M Missense 19/19 - 1
X-100604906-GC-CT c.1946_1947delinsAG p.S649K Missense 19/19 - 1
X-100604906-GCT-CCA c.1945_1947delinsTGG p.S649W Missense 19/19 - 1
X-100604906-GCT-CTC c.1945_1947delinsGAG p.S649E Missense 19/19 - 1
X-100604906-GCT-TTG c.1945_1947delinsCAA p.S649Q Missense 19/19 - 1
X-100604906-G-T c.1947C>A p.S649R Missense 19/19 - 2
X-100604908-T-G c.1945A>C p.S649R Missense 19/19 - 2
X-100604907-C-A c.1946G>T p.S649I Missense 19/19 - 2
X-100604907-C-G c.1946G>C p.S649T Missense 19/19 - 2
X-100604907-C-T c.1946G>A p.S649N Missense 19/19 - 4
X-100604907-CT-AA c.1945_1946delinsTT p.S649F Missense 19/19 - 2
X-100604907-CT-AC c.1945_1946delinsGT p.S649V Missense 19/19 - 1
X-100604907-CT-AG c.1945_1946inv p.S649L Missense 19/19 - 1
X-100604907-CT-GC c.1945_1946delinsGC p.S649A Missense 19/19 - 1
X-100604907-CT-GG c.1945_1946delinsCC p.S649P Missense 19/19 - 1
X-100604907-CT-TA c.1945_1946delinsTA p.S649Y Missense 19/19 - 1
X-100604907-CT-TC c.1945_1946delinsGA p.S649D Missense 19/19 - 1
X-100604907-CT-TG c.1945_1946delinsCA p.S649H Missense 19/19 - 1
X-100604907-GC-G c.1946del p.S649Tfs*4 Frameshift 19/19 - 1
X-100604908-T-A c.1945A>T p.S649C Missense 19/19 - 3
X-100604908-T-C c.1945A>G p.S649G Missense 19/19 - 2
X-100604909-CA-AT c.1943_1944delinsAT p.L648H Missense 19/19 - 1
X-100604909-CAG-AAA c.1942_1944delinsTTT p.L648F Missense 19/19 - 1
X-100604909-CAG-ACA c.1942_1944delinsTGT p.L648C Missense 19/19 - 1
X-100604909-CAG-ATA c.1942_1944delinsTAT p.L648Y Missense 19/19 - 1
X-100604909-CAG-GAT c.1942_1944delinsATC p.L648I Missense 19/19 - 1
X-100604909-CAG-GTC c.1942_1944delinsGAC p.L648D Missense 19/19 - 1
X-100604909-CAG-GTT c.1942_1944delinsAAC p.L648N Missense 19/19 - 1
X-100604910-A-C c.1943T>G p.L648R Missense 19/19 - 2
X-100604910-A-G c.1943T>C p.L648P Missense 19/19 - 4
X-100604910-AG-CA c.1942_1943delinsTG p.L648W Missense 19/19 - 1
X-100604910-AG-CC c.1942_1943delinsGG p.L648G Missense 19/19 - 1
X-100604910-AG-GA c.1942_1943delinsTC p.L648S Missense 19/19 - 1
X-100604910-AG-GC c.1942_1943delinsGC p.L648A Missense 19/19 - 1
X-100604910-AG-GT c.1942_1943delinsAC p.L648T Missense 19/19 - 1
X-100604910-AG-TC c.1942_1943delinsGA p.L648E Missense 19/19 - 1
X-100604910-AG-TT c.1942_1943delinsAA p.L648K Missense 19/19 - 1
X-100604910-A-T c.1943T>A p.L648Q Missense 19/19 - 2
X-100604911-G-C c.1942C>G p.L648V Missense 19/19 - 2
X-100604911-G-T c.1942C>A p.L648M Missense 19/19 - 2
X-100604912-AAG-CAT c.1939_1941delinsATG p.L647M Missense 19/19 - 1
X-100604912-AAG-CCA c.1939_1941delinsTGG p.L647W Missense 19/19 - 1
X-100604912-AAG-CTC c.1939_1941delinsGAG p.L647E Missense 19/19 - 1
X-100604912-AAG-CTT c.1939_1941inv p.L647K Missense 19/19 - 1
X-100604912-AA-TT c.1940_1941inv p.L647Q Missense 19/19 - 1
X-100604913-A-C c.1940T>G p.L647R Missense 19/19 - 4
X-100604913-A-G c.1940T>C p.L647P Missense 19/19 - 7
X-100604913-AG-CA c.1939_1940delinsTG p.L647C Missense 19/19 - 1
X-100604913-AG-CC c.1939_1940delinsGG p.L647G Missense 19/19 - 1
X-100604913-AG-CT c.1939_1940inv p.L647S Missense 19/19 - 1
X-100604913-AG-GC c.1939_1940delinsGC p.L647A Missense 19/19 - 1
X-100604913-AG-GT c.1939_1940delinsAC p.L647T Missense 19/19 - 1
X-100604913-AG-TA c.1939_1940delinsTA p.L647Y Missense 19/19 - 1
X-100604913-AG-TC c.1939_1940delinsGA p.L647D Missense 19/19 - 1
X-100604913-AG-TT c.1939_1940delinsAA p.L647N Missense 19/19 - 1
X-100604913-A-T c.1940T>A p.L647H Missense 19/19 - 2
X-100604914-G-A c.1939C>T p.L647F Missense 19/19 - 6
X-100604914-G-C c.1939C>G p.L647V Missense 19/19 - 2
X-100604914-G-T c.1939C>A p.L647I Missense 19/19 - 2
X-100604915-AA-CC c.1937_1938delinsGG p.I646R Missense 19/19 - 1
X-100604915-AA-CT c.1937_1938delinsAG p.I646K Missense 19/19 - 1
X-100604915-AAT-CCA c.1936_1938delinsTGG p.I646W Missense 19/19 - 1
X-100604915-AAT-CTC c.1936_1938delinsGAG p.I646E Missense 19/19 - 1
X-100604915-AAT-TTG c.1936_1938delinsCAA p.I646Q Missense 19/19 - 1
X-100604915-A-C c.1938T>G p.I646M Missense 19/19 - 2
X-100604916-A-C c.1937T>G p.I646S Missense 19/19 - 2
X-100604916-A-G c.1937T>C p.I646T Missense 19/19 - 2
X-100604916-A-T c.1937T>A p.I646N Missense 19/19 - 2
X-100604916-AT-CA c.1936_1937delinsTG p.I646C Missense 19/19 - 1
X-100604916-AT-CC c.1936_1937delinsGG p.I646G Missense 19/19 - 1
X-100604916-AT-GC c.1936_1937delinsGC p.I646A Missense 19/19 - 1
X-100604916-AT-GG c.1936_1937delinsCC p.I646P Missense 19/19 - 1
X-100604916-AT-TA c.1936_1937delinsTA p.I646Y Missense 19/19 - 1
X-100604916-AT-TC c.1936_1937delinsGA p.I646D Missense 19/19 - 1
X-100604916-AT-TG c.1936_1937delinsCA p.I646H Missense 19/19 - 1
X-100604917-T-A c.1936A>T p.I646F Missense 19/19 - 2
X-100604917-T-C c.1936A>G p.I646V Missense 19/19 - 2
X-100604917-T-G c.1936A>C p.I646L Missense 19/19 - 2
X-100604918-T-A c.1935A>T p.K645N Missense 19/19 - 2
X-100604918-T-G c.1935A>C p.K645N Missense 19/19 - 5
X-100604918-TT-CA c.1934_1935delinsTG p.K645M Missense 19/19 - 1
X-100604918-TT-GC c.1934_1935delinsGC p.K645S Missense 19/19 - 1
X-100604918-TTT-AAA c.1933_1935inv p.K645F Missense 19/19 - 1
X-100604918-TTT-ACA c.1933_1935delinsTGT p.K645C Missense 19/19 - 1
X-100604918-TTT-ATA c.1933_1935delinsTAT p.K645Y Missense 19/19 - 1
X-100604918-TTT-ATG c.1933_1935delinsCAT p.K645H Missense 19/19 - 1
X-100604918-TTT-CCA c.1933_1935delinsTGG p.K645W Missense 19/19 - 1
X-100604918-TTT-GTC c.1933_1935delinsGAC p.K645D Missense 19/19 - 1
X-100604919-T-A c.1934A>T p.K645I Missense 19/19 - 2
X-100604919-T-C c.1934A>G p.K645R Missense 19/19 - 3
X-100604919-T-G c.1934A>C p.K645T Missense 19/19 - 2
X-100604919-TT-AC c.1933_1934delinsGT p.K645V Missense 19/19 - 1
X-100604919-TT-AG c.1933_1934delinsCT p.K645L Missense 19/19 - 1
X-100604919-TT-CC c.1933_1934delinsGG p.K645G Missense 19/19 - 1
X-100604919-TT-GC c.1933_1934delinsGC p.K645A Missense 19/19 - 1
X-100604919-TT-GG c.1933_1934delinsCC p.K645P Missense 19/19 - 1
X-100604920-T-C c.1933A>G p.K645E Missense 19/19 - 3
X-100604920-T-G c.1933A>C p.K645Q Missense 19/19 - 2
X-100604921-GAA-CAT c.1930_1932delinsATG p.F644M Missense 19/19 - 1
X-100604921-GAA-CTC c.1930_1932delinsGAG p.F644E Missense 19/19 - 1
X-100604921-GAA-CTT c.1930_1932delinsAAG p.F644K Missense 19/19 - 1
X-100604921-GAA-TTG c.1930_1932delinsCAA p.F644Q Missense 19/19 - 1
X-100604921-GA-CC c.1931_1932delinsGG p.F644W Missense 19/19 - 1
X-100604922-AA-CC c.1930_1931delinsGG p.F644G Missense 19/19 - 1
X-100604922-AA-CG c.1930_1931delinsCG p.F644R Missense 19/19 - 1
X-100604922-AA-GC c.1930_1931delinsGC p.F644A Missense 19/19 - 1
X-100604922-AA-GG c.1930_1931delinsCC p.F644P Missense 19/19 - 1
X-100604922-AA-GT c.1930_1931delinsAC p.F644T Missense 19/19 - 1
X-100604922-AA-TC c.1930_1931delinsGA p.F644D Missense 19/19 - 1
X-100604922-AA-TG c.1930_1931delinsCA p.F644H Missense 19/19 - 1
X-100604922-AA-TT c.1930_1931inv p.F644N Missense 19/19 - 1
X-100604922-A-C c.1931T>G p.F644C Missense 19/19 - 2
X-100604922-A-G c.1931T>C p.F644S Missense 19/19 - 7
X-100604922-A-T c.1931T>A p.F644Y Missense 19/19 - 2
X-100604921-G-C c.1932C>G p.F644L Missense 19/19 - 4
X-100604921-G-T c.1932C>A p.F644L Missense 19/19 - 4
X-100604923-A-C c.1930T>G p.F644V Missense 19/19 - 2
X-100604923-A-G c.1930T>C p.F644L Missense 19/19 - 4
X-100604923-A-T c.1930T>A p.F644I Missense 19/19 - 2
X-100604924-AG-CA c.1928_1929delinsTG p.T643M Missense 19/19 - 1
X-100604924-AG-CC c.1928_1929delinsGG p.T643R Missense 19/19 - 1
X-100604924-AG-CT c.1928_1929inv p.T643K Missense 19/19 - 1
X-100604924-AGT-CCA c.1927_1929delinsTGG p.T643W Missense 19/19 - 1
X-100604924-AGT-CTC c.1927_1929delinsGAG p.T643E Missense 19/19 - 1
X-100604924-AGT-TTG c.1927_1929delinsCAA p.T643Q Missense 19/19 - 1
X-100604925-G-A c.1928C>T p.T643I Missense 19/19 - 2
X-100604925-G-C c.1928C>G p.T643S Missense 19/19 - 2
X-100604925-G-T c.1928C>A p.T643N Missense 19/19 - 2
X-100604925-GT-AA c.1927_1928delinsTT p.T643F Missense 19/19 - 1
X-100604925-GT-AC c.1927_1928inv p.T643V Missense 19/19 - 1
X-100604925-GT-AG c.1927_1928delinsCT p.T643L Missense 19/19 - 1
X-100604925-GT-CA c.1927_1928delinsTG p.T643C Missense 19/19 - 1
X-100604925-GT-CC c.1927_1928delinsGG p.T643G Missense 19/19 - 1
X-100604925-GT-TA c.1927_1928delinsTA p.T643Y Missense 19/19 - 1
X-100604925-GT-TC c.1927_1928delinsGA p.T643D Missense 19/19 - 1
X-100604925-GT-TG c.1927_1928delinsCA p.T643H Missense 19/19 - 1
X-100604926-T-A c.1927A>T p.T643S Missense 19/19 - 2
X-100604926-T-C c.1927A>G p.T643A Missense 19/19 - 2
X-100604926-T-G c.1927A>C p.T643P Missense 19/19 - 2
X-100604927-GGG-CAT c.1924_1926delinsATG p.P642M Missense 19/19 - 1
X-100604927-GGG-CCA c.1924_1926delinsTGG p.P642W Missense 19/19 - 1
X-100604927-GGG-CTC c.1924_1926delinsGAG p.P642E Missense 19/19 - 1
X-100604927-GGG-CTT c.1924_1926delinsAAG p.P642K Missense 19/19 - 1
X-100604927-GG-TT c.1925_1926delinsAA p.P642Q Missense 19/19 - 1
X-100604928-G-A c.1925C>T p.P642L Missense 19/19 - 2
X-100604928-G-C c.1925C>G p.P642R Missense 19/19 - 3
X-100604928-GG-AA c.1924_1925delinsTT p.P642F Missense 19/19 - 1
X-100604928-GG-AC c.1924_1925delinsGT p.P642V Missense 19/19 - 1
X-100604928-GG-AT c.1924_1925delinsAT p.P642I Missense 19/19 - 1
X-100604928-GG-CA c.1924_1925delinsTG p.P642C Missense 19/19 - 1
X-100604928-GG-CC c.1924_1925inv p.P642G Missense 19/19 - 1
X-100604928-GG-TA c.1924_1925delinsTA p.P642Y Missense 19/19 - 1
X-100604928-GG-TC c.1924_1925delinsGA p.P642D Missense 19/19 - 1
X-100604928-GG-TT c.1924_1925delinsAA p.P642N Missense 19/19 - 1
X-100604928-G-T c.1925C>A p.P642H Missense 19/19 - 2
X-100604929-G-A c.1924C>T p.P642S Missense 19/19 - 4
X-100604929-G-C c.1924C>G p.P642A Missense 19/19 - 2
X-100604929-G-T c.1924C>A p.P642T Missense 19/19 - 2
X-100604930-ACG-CAT c.1921_1923delinsATG p.R641M Missense 19/19 - 1
X-100604930-ACG-CCA c.1921_1923delinsTGG p.R641W Missense 19/19 - 3
X-100604930-ACG-CTC c.1921_1923delinsGAG p.R641E Missense 19/19 - 1
X-100604930-ACG-CTT c.1921_1923delinsAAG p.R641K Missense 19/19 - 1
X-100604930-AC-TT c.1922_1923delinsAA p.R641Q Missense 19/19 - 2
X-100604931-C-A c.1922G>T p.R641L Missense 19/19 - 3
X-100604931-C-G c.1922G>C p.R641P Missense 19/19 - 2
X-100604931-CG-AA c.1921_1922delinsTT p.R641F Missense 19/19 - 1
X-100604931-CG-AC c.1921_1922delinsGT p.R641V Missense 19/19 - 1
X-100604931-CG-AT c.1921_1922delinsAT p.R641I Missense 19/19 - 2
X-100604931-CG-GC c.1921_1922delinsGC p.R641A Missense 19/19 - 1
X-100604931-CG-GT c.1921_1922delinsAC p.R641T Missense 19/19 - 1
X-100604931-CG-TA c.1921_1922delinsTA p.R641Y Missense 19/19 - 1
X-100604931-CG-TC c.1921_1922delinsGA p.R641D Missense 19/19 - 1
X-100604931-CG-TT c.1921_1922delinsAA p.R641N Missense 19/19 - 1
X-100604931-C-T c.1922G>A p.R641H Missense 19/19 - 14
X-100604932-G-A c.1921C>T p.R641C Missense 19/19 - 9
X-100604932-G-C c.1921C>G p.R641G Missense 19/19 - 3
X-100604932-G-T c.1921C>A p.R641S Missense 19/19 - 3
X-100604933-C-A c.1920G>T p.E640D Missense 19/19 - 1
X-100604933-C-G c.1920G>C p.E640D Missense 19/19 - 1
X-100604933-C-T c.1920G>A p.E640= Synonymous 19/19 - 1
X-100604933-CTC-AAA c.1918_1920delinsTTT p.E640F Missense 19/19 - 1
X-100604933-CTC-ACA c.1918_1920delinsTGT p.E640C Missense 19/19 - 1
X-100604933-CTC-ATA c.1918_1920delinsTAT p.E640Y Missense 19/19 - 1
X-100604933-CTC-ATG c.1918_1920delinsCAT p.E640H Missense 19/19 - 1
X-100604933-CTC-GAT c.1918_1920delinsATC p.E640I Missense 19/19 - 1
X-100604933-CTC-GTT c.1918_1920delinsAAC p.E640N Missense 19/19 - 1
X-100604934-T-A c.1919A>T p.E640V Missense 19/19 - 2
X-100604934-T-C c.1919A>G p.E640G Missense 19/19 - 2
X-100604934-TC-AG c.1918_1919delinsCT p.E640L Missense 19/19 - 1
X-100604934-TC-AT c.1918_1919delinsAT p.E640M Missense 19/19 - 1
X-100604934-TC-CA c.1918_1919delinsTG p.E640W Missense 19/19 - 1
X-100604934-TC-CT c.1918_1919delinsAG p.E640R Missense 19/19 - 1
X-100604934-TC-GA c.1918_1919inv p.E640S Missense 19/19 - 1
X-100604934-TC-GG c.1918_1919delinsCC p.E640P Missense 19/19 - 1
X-100604934-TC-GT c.1918_1919delinsAC p.E640T Missense 19/19 - 1
X-100604934-T-G c.1919A>C p.E640A Missense 19/19 - 2
X-100604935-C-A c.1918G>T p.E640* Nonsense 19/19 - 1
X-100604935-C-G c.1918G>C p.E640Q Missense 19/19 - 3
X-100604935-C-T c.1918G>A p.E640K Missense 19/19 - 6
X-100604936-A-C c.1917T>G p.D639E Missense 19/19 - 4
X-100604936-A-T c.1917T>A p.D639E Missense 19/19 - 4
X-100604936-ATC-CAT c.1915_1917delinsATG p.D639M Missense 19/19 - 1
X-100604936-ATC-CCA c.1915_1917delinsTGG p.D639W Missense 19/19 - 1
X-100604936-ATC-CTT c.1915_1917delinsAAG p.D639K Missense 19/19 - 1
X-100604936-ATC-TTG c.1915_1917delinsCAA p.D639Q Missense 19/19 - 1
X-100604937-T-A c.1916A>T p.D639V Missense 19/19 - 2
X-100604937-T-C c.1916A>G p.D639G Missense 19/19 - 2
X-100604937-TC-AA c.1915_1916delinsTT p.D639F Missense 19/19 - 1
X-100604937-TC-AG c.1915_1916delinsCT p.D639L Missense 19/19 - 1
X-100604937-TC-AT c.1915_1916delinsAT p.D639I Missense 19/19 - 1
X-100604937-TC-CA c.1915_1916delinsTG p.D639C Missense 19/19 - 1
X-100604937-TC-CG c.1915_1916delinsCG p.D639R Missense 19/19 - 1
X-100604937-TC-CT c.1915_1916delinsAG p.D639S Missense 19/19 - 1
X-100604937-TC-GG c.1915_1916delinsCC p.D639P Missense 19/19 - 1
X-100604937-TC-GT c.1915_1916delinsAC p.D639T Missense 19/19 - 1
X-100604937-T-G c.1916A>C p.D639A Missense 19/19 - 2
X-100604938-C-A c.1915G>T p.D639Y Missense 19/19 - 2
X-100604938-C-G c.1915G>C p.D639H Missense 19/19 - 2
X-100604938-C-T c.1915G>A p.D639N Missense 19/19 - 3
X-100604939-TGC-AAA c.1912_1914delinsTTT p.A638F Missense 19/19 - 1
X-100604939-TGC-ACA c.1912_1914delinsTGT p.A638C Missense 19/19 - 1
X-100604939-TGC-ATA c.1912_1914delinsTAT p.A638Y Missense 19/19 - 1
X-100604939-TGC-ATG c.1912_1914delinsCAT p.A638H Missense 19/19 - 1
X-100604939-TGC-CAT c.1912_1914delinsATG p.A638M Missense 19/19 - 1
X-100604939-TGC-CCA c.1912_1914delinsTGG p.A638W Missense 19/19 - 1
X-100604939-TGC-GTT c.1912_1914delinsAAC p.A638N Missense 19/19 - 1
X-100604939-TG-GT c.1913_1914delinsAC p.A638D Missense 19/19 - 1
X-100604940-G-A c.1913C>T p.A638V Missense 19/19 - 2
X-100604940-G-C c.1913C>G p.A638G Missense 19/19 - 2
X-100604940-GC-AG c.1912_1913delinsCT p.A638L Missense 19/19 - 1
X-100604940-GC-AT c.1912_1913delinsAT p.A638I Missense 19/19 - 1
X-100604940-GC-CT c.1912_1913delinsAG p.A638R Missense 19/19 - 1
X-100604940-GC-TG c.1912_1913delinsCA p.A638Q Missense 19/19 - 1
X-100604940-GC-TT c.1912_1913delinsAA p.A638K Missense 19/19 - 1
X-100604940-G-T c.1913C>A p.A638E Missense 19/19 - 2
X-100604940-TG-T c.1913del p.A638Efs*11 Frameshift 19/19 - 1
X-100604941-C-A c.1912G>T p.A638S Missense 19/19 - 2
X-100604941-C-G c.1912G>C p.A638P Missense 19/19 - 2
X-100604941-C-T c.1912G>A p.A638T Missense 19/19 - 2
X-100604942-T-A c.1911A>T p.K637N Missense 19/19 - 3
X-100604942-T-G c.1911A>C p.K637N Missense 19/19 - 3
X-100604942-TT-CA c.1910_1911delinsTG p.K637M Missense 19/19 - 1
X-100604942-TT-GC c.1910_1911delinsGC p.K637S Missense 19/19 - 1
X-100604942-TTT-AAA c.1909_1911inv p.K637F Missense 19/19 - 1
X-100604942-TTT-ACA c.1909_1911delinsTGT p.K637C Missense 19/19 - 1
X-100604942-TTT-ATA c.1909_1911delinsTAT p.K637Y Missense 19/19 - 1
X-100604942-TTT-ATG c.1909_1911delinsCAT p.K637H Missense 19/19 - 1
X-100604942-TTT-CCA c.1909_1911delinsTGG p.K637W Missense 19/19 - 1
X-100604942-TTT-GTC c.1909_1911delinsGAC p.K637D Missense 19/19 - 1
X-100604943-T-A c.1910A>T p.K637I Missense 19/19 - 2
X-100604943-T-C c.1910A>G p.K637R Missense 19/19 - 2
X-100604943-T-G c.1910A>C p.K637T Missense 19/19 - 2
X-100604943-TT-AC c.1909_1910delinsGT p.K637V Missense 19/19 - 1
X-100604943-TT-AG c.1909_1910delinsCT p.K637L Missense 19/19 - 1
X-100604943-TT-CC c.1909_1910delinsGG p.K637G Missense 19/19 - 1
X-100604943-TT-GC c.1909_1910delinsGC p.K637A Missense 19/19 - 1
X-100604943-TT-GG c.1909_1910delinsCC p.K637P Missense 19/19 - 1
X-100604941-CT-C c.1911del p.A638Qfs*11 Frameshift 19/19 - 1
X-100604944-T-C c.1909A>G p.K637E Missense 19/19 - 4
X-100604944-T-G c.1909A>C p.K637Q Missense 19/19 - 2
X-100608058-TA-T c.1908+123del - IntronicDeletion - 18/18 1
X-100608058-T-TA c.1908+123dup - IntronicInsertion - 18/18 1
X-100608087-T-A c.1908+95A>T - IntronicSNV - 18/18 1
X-100608097-T-A c.1908+85A>T - IntronicSNV - 18/18 1
X-100608126-T-C c.1908+56A>G - IntronicSNV - 18/18 1
X-100608180-TA-T c.1908+2del - IntronicDeletion - 18/18 2
X-100608181-C-G c.1908+1G>C - IntronicSNV - 18/18 3
X-100608181-C-T c.1908+1G>A - IntronicSNV - 18/18 2
X-100608182-C-A c.1908G>T p.E636D Missense 18/19 - 2
X-100608182-C-G c.1908G>C p.E636D Missense 18/19 - 2
X-100608182-CTC-AAA c.1906_1908delinsTTT p.E636F Missense 18/19 - 2
X-100608182-CTC-ACA c.1906_1908delinsTGT p.E636C Missense 18/19 - 1
X-100608182-CTC-ATA c.1906_1908delinsTAT p.E636Y Missense 18/19 - 1
X-100608182-CTC-ATG c.1906_1908delinsCAT p.E636H Missense 18/19 - 1
X-100608182-CTC-GAT c.1906_1908delinsATC p.E636I Missense 18/19 - 1
X-100608182-CTC-GTT c.1906_1908delinsAAC p.E636N Missense 18/19 - 1
X-100608183-T-A c.1907A>T p.E636V Missense 18/19 - 4
X-100608183-T-C c.1907A>G p.E636G Missense 18/19 - 2
X-100608183-TC-AG c.1906_1907delinsCT p.E636L Missense 18/19 - 1
X-100608183-TC-AT c.1906_1907delinsAT p.E636M Missense 18/19 - 1
X-100608183-TC-CA c.1906_1907delinsTG p.E636W Missense 18/19 - 1
X-100608183-TC-CT c.1906_1907delinsAG p.E636R Missense 18/19 - 1
X-100608183-TC-GA c.1906_1907inv p.E636S Missense 18/19 - 1
X-100608183-TC-GG c.1906_1907delinsCC p.E636P Missense 18/19 - 1
X-100608183-TC-GT c.1906_1907delinsAC p.E636T Missense 18/19 - 1
X-100608183-T-G c.1907A>C p.E636A Missense 18/19 - 2
X-100608184-C-G c.1906G>C p.E636Q Missense 18/19 - 2
X-100608184-C-T c.1906G>A p.E636K Missense 18/19 - 5
X-100608185-A-C c.1905T>G p.H635Q Missense 18/19 - 2
X-100608185-A-T c.1905T>A p.H635Q Missense 18/19 - 3
X-100608185-ATG-CAT c.1903_1905inv p.H635M Missense 18/19 - 1
X-100608185-ATG-CCA c.1903_1905delinsTGG p.H635W Missense 18/19 - 1
X-100608185-ATG-CTC c.1903_1905delinsGAG p.H635E Missense 18/19 - 1
X-100608185-ATG-CTT c.1903_1905delinsAAG p.H635K Missense 18/19 - 1
X-100608186-T-A c.1904A>T p.H635L Missense 18/19 - 2
X-100608186-T-C c.1904A>G p.H635R Missense 18/19 - 2
X-100608186-T-G c.1904A>C p.H635P Missense 18/19 - 2
X-100608186-TG-AA c.1903_1904delinsTT p.H635F Missense 18/19 - 1
X-100608186-TG-AC c.1903_1904delinsGT p.H635V Missense 18/19 - 1
X-100608186-TG-AT c.1903_1904delinsAT p.H635I Missense 18/19 - 1
X-100608186-TG-CA c.1903_1904inv p.H635C Missense 18/19 - 1
X-100608186-TG-CC c.1903_1904delinsGG p.H635G Missense 18/19 - 1
X-100608186-TG-CT c.1903_1904delinsAG p.H635S Missense 18/19 - 1
X-100608186-TG-GC c.1903_1904delinsGC p.H635A Missense 18/19 - 1
X-100608186-TG-GT c.1903_1904delinsAC p.H635T Missense 18/19 - 1
X-100608187-G-A c.1903C>T p.H635Y Missense 18/19 - 2
X-100608187-G-C c.1903C>G p.H635D Missense 18/19 - 2
X-100608187-G-T c.1903C>A p.H635N Missense 18/19 - 2
X-100608188-C-A c.1902G>T p.W634C Missense 18/19 - 5
X-100608188-CC-AA c.1901_1902delinsTT p.W634F Missense 18/19 - 1
X-100608188-CCA-ATG c.1900_1902delinsCAT p.W634H Missense 18/19 - 1
X-100608188-CCA-GAT c.1900_1902delinsATC p.W634I Missense 18/19 - 1
X-100608188-CCA-GTC c.1900_1902delinsGAC p.W634D Missense 18/19 - 1
X-100608188-CCA-GTT c.1900_1902delinsAAC p.W634N Missense 18/19 - 1
X-100608188-CC-AT c.1901_1902delinsAT p.W634Y Missense 18/19 - 1
X-100608188-C-G c.1902G>C p.W634C Missense 18/19 - 5
X-100608188-C-T c.1902G>A p.W634* Nonsense 18/19 - 1
X-100608189-C-A c.1901G>T p.W634L Missense 18/19 - 3
X-100608189-CA-AC c.1900_1901delinsGT p.W634V Missense 18/19 - 1
X-100608189-CA-AT c.1900_1901delinsAT p.W634M Missense 18/19 - 1
X-100608189-CA-GC c.1900_1901delinsGC p.W634A Missense 18/19 - 1
X-100608189-CA-GG c.1900_1901delinsCC p.W634P Missense 18/19 - 1
X-100608189-CA-GT c.1900_1901delinsAC p.W634T Missense 18/19 - 1
X-100608189-CA-TC c.1900_1901delinsGA p.W634E Missense 18/19 - 1
X-100608189-CA-TG c.1900_1901inv p.W634Q Missense 18/19 - 1
X-100608189-CA-TT c.1900_1901delinsAA p.W634K Missense 18/19 - 1
X-100608189-C-G c.1901G>C p.W634S Missense 18/19 - 4
X-100608189-C-T c.1901G>A p.W634* Nonsense 18/19 - 1
X-100608190-A-C c.1900T>G p.W634G Missense 18/19 - 2
X-100608190-A-G c.1900T>C p.W634R Missense 18/19 - 2
X-100608190-A-T c.1900T>A p.W634R Missense 18/19 - 2
X-100608191-G-A c.1899C>T p.C633= Synonymous 18/19 - 25
X-100608191-G-C c.1899C>G p.C633W Missense 18/19 - 2
X-100608191-GCA-CAT c.1897_1899delinsATG p.C633M Missense 18/19 - 1
X-100608191-GCA-CTC c.1897_1899delinsGAG p.C633E Missense 18/19 - 1
X-100608191-GCA-CTT c.1897_1899delinsAAG p.C633K Missense 18/19 - 1
X-100608191-GCA-TTG c.1897_1899delinsCAA p.C633Q Missense 18/19 - 1
X-100608191-G-T c.1899C>A p.C633* Nonsense 18/19 - 4
X-100608192-C-A c.1898G>T p.C633F Missense 18/19 - 2
X-100608192-CA-AC c.1897_1898delinsGT p.C633V Missense 18/19 - 1
X-100608192-CA-AG c.1897_1898delinsCT p.C633L Missense 18/19 - 1
X-100608192-CA-AT c.1897_1898delinsAT p.C633I Missense 18/19 - 1
X-100608192-CA-GC c.1897_1898delinsGC p.C633A Missense 18/19 - 1
X-100608192-CA-GG c.1897_1898delinsCC p.C633P Missense 18/19 - 1
X-100608192-CA-GT c.1897_1898delinsAC p.C633T Missense 18/19 - 1
X-100608192-CA-TC c.1897_1898delinsGA p.C633D Missense 18/19 - 1
X-100608192-CA-TG c.1897_1898inv p.C633H Missense 18/19 - 1
X-100608192-CA-TT c.1897_1898delinsAA p.C633N Missense 18/19 - 1
X-100608192-C-T c.1898G>A p.C633Y Missense 18/19 - 6
X-100608192-C-G c.1898G>C p.C633S Missense 18/19 - 2
X-100608193-A-C c.1897T>G p.C633G Missense 18/19 - 2
X-100608193-A-G c.1897T>C p.C633R Missense 18/19 - 2
X-100608193-A-T c.1897T>A p.C633S Missense 18/19 - 2
X-100608194-A-C c.1896T>G p.S632R Missense 18/19 - 2
X-100608194-AC-CA c.1895_1896delinsTG p.S632M Missense 18/19 - 1
X-100608194-AC-CT c.1895_1896delinsAG p.S632K Missense 18/19 - 1
X-100608194-ACT-CCA c.1894_1896delinsTGG p.S632W Missense 18/19 - 1
X-100608194-ACT-CTC c.1894_1896delinsGAG p.S632E Missense 18/19 - 1
X-100608194-ACT-TTG c.1894_1896delinsCAA p.S632Q Missense 18/19 - 1
X-100608194-A-T c.1896T>A p.S632R Missense 18/19 - 2
X-100608196-T-G c.1894A>C p.S632R Missense 18/19 - 2
X-100608195-C-A c.1895G>T p.S632I Missense 18/19 - 3
X-100608195-C-G c.1895G>C p.S632T Missense 18/19 - 2
X-100608195-C-T c.1895G>A p.S632N Missense 18/19 - 4
X-100608195-CT-AA c.1894_1895delinsTT p.S632F Missense 18/19 - 1
X-100608195-CT-AC c.1894_1895delinsGT p.S632V Missense 18/19 - 1
X-100608195-CT-AG c.1894_1895inv p.S632L Missense 18/19 - 1
X-100608195-CT-GC c.1894_1895delinsGC p.S632A Missense 18/19 - 2
X-100608195-CT-GG c.1894_1895delinsCC p.S632P Missense 18/19 - 2
X-100608195-CT-TA c.1894_1895delinsTA p.S632Y Missense 18/19 - 1
X-100608195-CT-TC c.1894_1895delinsGA p.S632D Missense 18/19 - 1
X-100608195-CT-TG c.1894_1895delinsCA p.S632H Missense 18/19 - 1
X-100608196-T-A c.1894A>T p.S632C Missense 18/19 - 2
X-100608196-T-C c.1894A>G p.S632G Missense 18/19 - 2
X-100608197-G-A c.1893C>T p.Y631= Synonymous 18/19 - 1
X-100608197-G-C c.1893C>G p.Y631* Nonsense 18/19 - 4
X-100608197-G-T c.1893C>A p.Y631* Nonsense 18/19 - 2
X-100608197-GTA-CAT c.1891_1893delinsATG p.Y631M Missense 18/19 - 1
X-100608197-GTA-CTC c.1891_1893delinsGAG p.Y631E Missense 18/19 - 1
X-100608197-GTA-CTT c.1891_1893delinsAAG p.Y631K Missense 18/19 - 1
X-100608197-GTA-TTG c.1891_1893delinsCAA p.Y631Q Missense 18/19 - 1
X-100608197-GT-CC c.1892_1893delinsGG p.Y631W Missense 18/19 - 1
X-100608198-T-A c.1892A>T p.Y631F Missense 18/19 - 3
X-100608198-TA-AC c.1891_1892delinsGT p.Y631V Missense 18/19 - 1
X-100608198-TA-AG c.1891_1892delinsCT p.Y631L Missense 18/19 - 1
X-100608198-TA-AT c.1891_1892delinsAT p.Y631I Missense 18/19 - 1
X-100608198-TA-CC c.1891_1892delinsGG p.Y631G Missense 18/19 - 1
X-100608198-TA-CG c.1891_1892delinsCG p.Y631R Missense 18/19 - 1
X-100608198-TA-GC c.1891_1892delinsGC p.Y631A Missense 18/19 - 1
X-100608198-TA-GG c.1891_1892delinsCC p.Y631P Missense 18/19 - 1
X-100608198-TA-GT c.1891_1892delinsAC p.Y631T Missense 18/19 - 1
X-100608198-T-C c.1892A>G p.Y631C Missense 18/19 - 2
X-100608198-T-G c.1892A>C p.Y631S Missense 18/19 - 2
X-100608199-A-C c.1891T>G p.Y631D Missense 18/19 - 2
X-100608199-A-G c.1891T>C p.Y631H Missense 18/19 - 2
X-100608199-A-T c.1891T>A p.Y631N Missense 18/19 - 2
X-100608200-C-A c.1890G>T p.M630I Missense 18/19 - 5
X-100608200-CA-GC c.1889_1890delinsGC p.M630S Missense 18/19 - 1
X-100608200-CA-GT c.1889_1890delinsAC p.M630N Missense 18/19 - 1
X-100608200-CAT-AAA c.1888_1890delinsTTT p.M630F Missense 18/19 - 1
X-100608200-CAT-ACA c.1888_1890delinsTGT p.M630C Missense 18/19 - 1
X-100608200-CAT-ATA c.1888_1890delinsTAT p.M630Y Missense 18/19 - 1
X-100608200-CAT-ATG c.1888_1890inv p.M630H Missense 18/19 - 1
X-100608200-CAT-GTC c.1888_1890delinsGAC p.M630D Missense 18/19 - 1
X-100608200-C-G c.1890G>C p.M630I Missense 18/19 - 5
X-100608200-C-T c.1890G>A p.M630I Missense 18/19 - 5
X-100608201-A-C c.1889T>G p.M630R Missense 18/19 - 4
X-100608201-A-G c.1889T>C p.M630T Missense 18/19 - 6
X-100608201-A-T c.1889T>A p.M630K Missense 18/19 - 9
X-100608201-AT-CA c.1888_1889delinsTG p.M630W Missense 18/19 - 1
X-100608201-AT-CC c.1888_1889delinsGG p.M630G Missense 18/19 - 1
X-100608201-AT-GC c.1888_1889delinsGC p.M630A Missense 18/19 - 1
X-100608201-AT-GG c.1888_1889delinsCC p.M630P Missense 18/19 - 1
X-100608201-AT-TC c.1888_1889delinsGA p.M630E Missense 18/19 - 1
X-100608201-AT-TG c.1888_1889delinsCA p.M630Q Missense 18/19 - 1
X-100608202-T-A c.1888A>T p.M630L Missense 18/19 - 6
X-100608202-T-C c.1888A>G p.M630V Missense 18/19 - 3
X-100608202-T-G c.1888A>C p.M630L Missense 18/19 - 4
X-100608203-GA-CC c.1886_1887delinsGG p.I629R Missense 18/19 - 1
X-100608203-GA-CT c.1886_1887delinsAG p.I629K Missense 18/19 - 1
X-100608203-GAT-CCA c.1885_1887delinsTGG p.I629W Missense 18/19 - 1
X-100608203-GAT-CTC c.1885_1887delinsGAG p.I629E Missense 18/19 - 1
X-100608203-GAT-TTG c.1885_1887delinsCAA p.I629Q Missense 18/19 - 1
X-100608203-G-C c.1887C>G p.I629M Missense 18/19 - 2
X-100608204-A-C c.1886T>G p.I629S Missense 18/19 - 2
X-100608204-A-G c.1886T>C p.I629T Missense 18/19 - 2
X-100608204-A-T c.1886T>A p.I629N Missense 18/19 - 2
X-100608204-AT-CA c.1885_1886delinsTG p.I629C Missense 18/19 - 1
X-100608204-AT-CC c.1885_1886delinsGG p.I629G Missense 18/19 - 1
X-100608204-AT-GC c.1885_1886delinsGC p.I629A Missense 18/19 - 1
X-100608204-AT-GG c.1885_1886delinsCC p.I629P Missense 18/19 - 1
X-100608204-AT-TA c.1885_1886delinsTA p.I629Y Missense 18/19 - 1
X-100608204-AT-TC c.1885_1886delinsGA p.I629D Missense 18/19 - 1
X-100608204-AT-TG c.1885_1886delinsCA p.I629H Missense 18/19 - 1
X-100608205-T-A c.1885A>T p.I629F Missense 18/19 - 2
X-100608205-T-C c.1885A>G p.I629V Missense 18/19 - 2
X-100608205-T-G c.1885A>C p.I629L Missense 18/19 - 2
X-100608204-ATGG-A c.1883_1885del p.T628del InFrameDeletion 18/19 - 1
X-100608206-GG-CA c.1883_1884delinsTG p.T628M Missense 18/19 - 1
X-100608206-GG-CC c.1883_1884inv p.T628R Missense 18/19 - 1
X-100608206-GG-CT c.1883_1884delinsAG p.T628K Missense 18/19 - 1
X-100608206-GGT-CCA c.1882_1884delinsTGG p.T628W Missense 18/19 - 1
X-100608206-GGT-CTC c.1882_1884delinsGAG p.T628E Missense 18/19 - 1
X-100608206-GGT-TTG c.1882_1884delinsCAA p.T628Q Missense 18/19 - 1
X-100608205-TG-T c.1884del p.I629Sfs*20 Frameshift 18/19 - 1
X-100608207-G-A c.1883C>T p.T628I Missense 18/19 - 2
X-100608207-G-C c.1883C>G p.T628S Missense 18/19 - 3
X-100608207-G-T c.1883C>A p.T628N Missense 18/19 - 2
X-100608207-GT-AA c.1882_1883delinsTT p.T628F Missense 18/19 - 1
X-100608207-GT-AC c.1882_1883inv p.T628V Missense 18/19 - 1
X-100608207-GT-AG c.1882_1883delinsCT p.T628L Missense 18/19 - 1
X-100608207-GT-CA c.1882_1883delinsTG p.T628C Missense 18/19 - 1
X-100608207-GT-CC c.1882_1883delinsGG p.T628G Missense 18/19 - 1
X-100608207-GT-TA c.1882_1883delinsTA p.T628Y Missense 18/19 - 1
X-100608207-GT-TC c.1882_1883delinsGA p.T628D Missense 18/19 - 1
X-100608207-GT-TG c.1882_1883delinsCA p.T628H Missense 18/19 - 1
X-100608208-T-A c.1882A>T p.T628S Missense 18/19 - 3
X-100608208-T-C c.1882A>G p.T628A Missense 18/19 - 3
X-100608208-T-G c.1882A>C p.T628P Missense 18/19 - 2
X-100608209-A-C c.1881T>G p.Y627* Nonsense 18/19 - 2
X-100608209-A-T c.1881T>A p.Y627* Nonsense 18/19 - 2
X-100608209-ATA-CAT c.1879_1881delinsATG p.Y627M Missense 18/19 - 1
X-100608209-ATA-CTC c.1879_1881delinsGAG p.Y627E Missense 18/19 - 1
X-100608209-ATA-CTT c.1879_1881delinsAAG p.Y627K Missense 18/19 - 1
X-100608209-ATA-TTG c.1879_1881delinsCAA p.Y627Q Missense 18/19 - 1
X-100608209-AT-CC c.1880_1881delinsGG p.Y627W Missense 18/19 - 1
X-100608210-T-A c.1880A>T p.Y627F Missense 18/19 - 2
X-100608210-TA-AC c.1879_1880delinsGT p.Y627V Missense 18/19 - 1
X-100608210-TA-AG c.1879_1880delinsCT p.Y627L Missense 18/19 - 1
X-100608210-TA-AT c.1879_1880delinsAT p.Y627I Missense 18/19 - 1
X-100608210-TA-CC c.1879_1880delinsGG p.Y627G Missense 18/19 - 1
X-100608210-TA-CG c.1879_1880delinsCG p.Y627R Missense 18/19 - 1
X-100608210-TA-GC c.1879_1880delinsGC p.Y627A Missense 18/19 - 1
X-100608210-TA-GG c.1879_1880delinsCC p.Y627P Missense 18/19 - 1
X-100608210-TA-GT c.1879_1880delinsAC p.Y627T Missense 18/19 - 1
X-100608210-T-C c.1880A>G p.Y627C Missense 18/19 - 6
X-100608210-T-G c.1880A>C p.Y627S Missense 18/19 - 2
X-100608211-A-C c.1879T>G p.Y627D Missense 18/19 - 2
X-100608211-A-G c.1879T>C p.Y627H Missense 18/19 - 2
X-100608211-A-T c.1879T>A p.Y627N Missense 18/19 - 2
X-100608207-GTA-G c.1881_1882del p.T628Hfs*8 Frameshift 18/19 - 1
X-100608212-TAC-AAA c.1876_1878delinsTTT p.V626F Missense 18/19 - 1
X-100608212-TAC-ACA c.1876_1878delinsTGT p.V626C Missense 18/19 - 1
X-100608212-TAC-ATA c.1876_1878delinsTAT p.V626Y Missense 18/19 - 1
X-100608212-TAC-ATG c.1876_1878delinsCAT p.V626H Missense 18/19 - 1
X-100608212-TAC-CAT c.1876_1878delinsATG p.V626M Missense 18/19 - 1
X-100608212-TAC-CCA c.1876_1878delinsTGG p.V626W Missense 18/19 - 1
X-100608212-TAC-GTT c.1876_1878delinsAAC p.V626N Missense 18/19 - 1
X-100608212-TA-GT c.1877_1878delinsAC p.V626D Missense 18/19 - 1
X-100608212-T-C c.1878A>G p.V626= Synonymous 18/19 - 1
X-100608213-A-C c.1877T>G p.V626G Missense 18/19 - 4
X-100608213-AC-CT c.1876_1877delinsAG p.V626R Missense 18/19 - 1
X-100608213-AC-GA c.1876_1877delinsTC p.V626S Missense 18/19 - 1
X-100608213-AC-GG c.1876_1877delinsCC p.V626P Missense 18/19 - 1
X-100608213-AC-GT c.1876_1877inv p.V626T Missense 18/19 - 1
X-100608213-AC-TG c.1876_1877delinsCA p.V626Q Missense 18/19 - 1
X-100608213-AC-TT c.1876_1877delinsAA p.V626K Missense 18/19 - 1
X-100608213-A-G c.1877T>C p.V626A Missense 18/19 - 3
X-100608213-A-T c.1877T>A p.V626E Missense 18/19 - 2
X-100608214-C-A c.1876G>T p.V626L Missense 18/19 - 3
X-100608214-C-G c.1876G>C p.V626L Missense 18/19 - 2
X-100608214-C-T c.1876G>A p.V626I Missense 18/19 - 2
X-100608213-AC-A c.1876del p.V626Yfs*23 Frameshift 18/19 - 1
X-100608215-C-A c.1875G>T p.K625N Missense 18/19 - 2
X-100608215-C-G c.1875G>C p.K625N Missense 18/19 - 2
X-100608215-CT-GA c.1874_1875delinsTC p.K625I Missense 18/19 - 1
X-100608215-CT-GC c.1874_1875delinsGC p.K625S Missense 18/19 - 1
X-100608215-CTT-AAA c.1873_1875delinsTTT p.K625F Missense 18/19 - 1
X-100608215-CTT-ACA c.1873_1875delinsTGT p.K625C Missense 18/19 - 1
X-100608215-CTT-ATA c.1873_1875delinsTAT p.K625Y Missense 18/19 - 1
X-100608215-CTT-ATG c.1873_1875delinsCAT p.K625H Missense 18/19 - 1
X-100608215-CTT-GTC c.1873_1875delinsGAC p.K625D Missense 18/19 - 1
X-100608216-T-A c.1874A>T p.K625M Missense 18/19 - 2
X-100608216-T-C c.1874A>G p.K625R Missense 18/19 - 3
X-100608216-T-G c.1874A>C p.K625T Missense 18/19 - 2
X-100608216-TT-AC c.1873_1874delinsGT p.K625V Missense 18/19 - 1
X-100608216-TT-AG c.1873_1874delinsCT p.K625L Missense 18/19 - 1
X-100608216-TT-CA c.1873_1874delinsTG p.K625W Missense 18/19 - 1
X-100608216-TT-CC c.1873_1874delinsGG p.K625G Missense 18/19 - 1
X-100608216-TT-GC c.1873_1874delinsGC p.K625A Missense 18/19 - 1
X-100608216-TT-GG c.1873_1874delinsCC p.K625P Missense 18/19 - 1
X-100608217-T-A c.1873A>T p.K625* Nonsense 18/19 - 1
X-100608217-T-C c.1873A>G p.K625E Missense 18/19 - 3
X-100608217-T-G c.1873A>C p.K625Q Missense 18/19 - 2
X-100608218-C-A c.1872G>T p.E624D Missense 18/19 - 2
X-100608218-C-G c.1872G>C p.E624D Missense 18/19 - 2
X-100608218-CTC-AAA c.1870_1872delinsTTT p.E624F Missense 18/19 - 1
X-100608218-CTC-ACA c.1870_1872delinsTGT p.E624C Missense 18/19 - 1
X-100608218-CTC-ATA c.1870_1872delinsTAT p.E624Y Missense 18/19 - 1
X-100608218-CTC-ATG c.1870_1872delinsCAT p.E624H Missense 18/19 - 1
X-100608218-CTC-GAT c.1870_1872delinsATC p.E624I Missense 18/19 - 1
X-100608218-CTC-GTT c.1870_1872delinsAAC p.E624N Missense 18/19 - 1
X-100608219-T-A c.1871A>T p.E624V Missense 18/19 - 2
X-100608219-T-C c.1871A>G p.E624G Missense 18/19 - 2
X-100608219-TC-AG c.1870_1871delinsCT p.E624L Missense 18/19 - 1
X-100608219-TC-AT c.1870_1871delinsAT p.E624M Missense 18/19 - 1
X-100608219-TC-CA c.1870_1871delinsTG p.E624W Missense 18/19 - 1
X-100608219-TC-CT c.1870_1871delinsAG p.E624R Missense 18/19 - 1
X-100608219-TC-GA c.1870_1871inv p.E624S Missense 18/19 - 1
X-100608219-TC-GG c.1870_1871delinsCC p.E624P Missense 18/19 - 1
X-100608219-TC-GT c.1870_1871delinsAC p.E624T Missense 18/19 - 1
X-100608219-T-G c.1871A>C p.E624A Missense 18/19 - 2
X-100608220-C-G c.1870G>C p.E624Q Missense 18/19 - 3
X-100608220-C-T c.1870G>A p.E624K Missense 18/19 - 8
X-100608221-TG-AA c.1868_1869delinsTT p.S623F Missense 18/19 - 1
X-100608221-TGA-ATG c.1867_1869delinsCAT p.S623H Missense 18/19 - 1
X-100608221-TG-AC c.1868_1869delinsGT p.S623C Missense 18/19 - 1
X-100608221-TGA-CAT c.1867_1869delinsATG p.S623M Missense 18/19 - 1
X-100608221-TGA-GTC c.1867_1869delinsGAC p.S623D Missense 18/19 - 1
X-100608221-TGA-GTT c.1867_1869delinsAAC p.S623N Missense 18/19 - 1
X-100608221-TG-AT c.1868_1869delinsAT p.S623Y Missense 18/19 - 1
X-100608221-TG-CC c.1868_1869delinsGG p.S623W Missense 18/19 - 1
X-100608222-G-A c.1868C>T p.S623L Missense 18/19 - 1
X-100608222-GA-AC c.1867_1868delinsGT p.S623V Missense 18/19 - 1
X-100608222-GA-AT c.1867_1868delinsAT p.S623I Missense 18/19 - 1
X-100608222-GA-CC c.1867_1868delinsGG p.S623G Missense 18/19 - 1
X-100608222-GA-CT c.1867_1868delinsAG p.S623R Missense 18/19 - 1
X-100608222-GA-TC c.1867_1868inv p.S623E Missense 18/19 - 1
X-100608222-GA-TG c.1867_1868delinsCA p.S623Q Missense 18/19 - 1
X-100608222-GA-TT c.1867_1868delinsAA p.S623K Missense 18/19 - 1
X-100608223-A-C c.1867T>G p.S623A Missense 18/19 - 2
X-100608223-A-G c.1867T>C p.S623P Missense 18/19 - 2
X-100608223-A-T c.1867T>A p.S623T Missense 18/19 - 2
X-100608224-AGC-CAT c.1864_1866delinsATG p.A622M Missense 18/19 - 1
X-100608224-AGC-CCA c.1864_1866delinsTGG p.A622W Missense 18/19 - 1
X-100608224-AGC-CTT c.1864_1866delinsAAG p.A622K Missense 18/19 - 1
X-100608224-AG-CT c.1865_1866inv p.A622E Missense 18/19 - 1
X-100608224-AGC-TTG c.1864_1866delinsCAA p.A622Q Missense 18/19 - 1
X-100608225-G-A c.1865C>T p.A622V Missense 18/19 - 3
X-100608225-G-C c.1865C>G p.A622G Missense 18/19 - 6
X-100608225-GC-AA c.1864_1865delinsTT p.A622F Missense 18/19 - 1
X-100608225-GC-AG c.1864_1865delinsCT p.A622L Missense 18/19 - 1
X-100608225-GC-AT c.1864_1865delinsAT p.A622I Missense 18/19 - 1
X-100608225-GC-CA c.1864_1865delinsTG p.A622C Missense 18/19 - 1
X-100608225-GC-CG c.1864_1865delinsCG p.A622R Missense 18/19 - 1
X-100608225-GC-TA c.1864_1865delinsTA p.A622Y Missense 18/19 - 1
X-100608225-GC-TG c.1864_1865delinsCA p.A622H Missense 18/19 - 1
X-100608225-GC-TT c.1864_1865delinsAA p.A622N Missense 18/19 - 1
X-100608225-G-T c.1865C>A p.A622D Missense 18/19 - 2
X-100608226-C-A c.1864G>T p.A622S Missense 18/19 - 2
X-100608226-C-G c.1864G>C p.A622P Missense 18/19 - 5
X-100608226-C-T c.1864G>A p.A622T Missense 18/19 - 2
X-100608227-CA-AT c.1862_1863delinsAT p.L621H Missense 18/19 - 1
X-100608227-CAG-AAA c.1861_1863delinsTTT p.L621F Missense 18/19 - 1
X-100608227-CAG-ACA c.1861_1863delinsTGT p.L621C Missense 18/19 - 1
X-100608227-CAG-ATA c.1861_1863delinsTAT p.L621Y Missense 18/19 - 1
X-100608227-CAG-GAT c.1861_1863delinsATC p.L621I Missense 18/19 - 1
X-100608227-CAG-GTC c.1861_1863delinsGAC p.L621D Missense 18/19 - 1
X-100608227-CAG-GTT c.1861_1863delinsAAC p.L621N Missense 18/19 - 1
X-100608228-A-C c.1862T>G p.L621R Missense 18/19 - 2
X-100608228-A-G c.1862T>C p.L621P Missense 18/19 - 2
X-100608228-AG-CA c.1861_1862delinsTG p.L621W Missense 18/19 - 1
X-100608228-AG-CC c.1861_1862delinsGG p.L621G Missense 18/19 - 1
X-100608228-AG-GA c.1861_1862delinsTC p.L621S Missense 18/19 - 1
X-100608228-AG-GC c.1861_1862delinsGC p.L621A Missense 18/19 - 1
X-100608228-AG-GT c.1861_1862delinsAC p.L621T Missense 18/19 - 1
X-100608228-AG-TC c.1861_1862delinsGA p.L621E Missense 18/19 - 1
X-100608228-AG-TT c.1861_1862delinsAA p.L621K Missense 18/19 - 1
X-100608228-A-T c.1862T>A p.L621Q Missense 18/19 - 2
X-100608229-G-C c.1861C>G p.L621V Missense 18/19 - 2
X-100608229-G-T c.1861C>A p.L621M Missense 18/19 - 5
X-100608230-A-C c.1860T>G p.H620Q Missense 18/19 - 2
X-100608230-A-T c.1860T>A p.H620Q Missense 18/19 - 2
X-100608230-ATG-CAT c.1858_1860inv p.H620M Missense 18/19 - 1
X-100608230-ATG-CCA c.1858_1860delinsTGG p.H620W Missense 18/19 - 1
X-100608230-ATG-CTC c.1858_1860delinsGAG p.H620E Missense 18/19 - 1
X-100608230-ATG-CTT c.1858_1860delinsAAG p.H620K Missense 18/19 - 1
X-100608231-T-A c.1859A>T p.H620L Missense 18/19 - 2
X-100608231-T-C c.1859A>G p.H620R Missense 18/19 - 2
X-100608231-T-G c.1859A>C p.H620P Missense 18/19 - 2
X-100608231-TG-AA c.1858_1859delinsTT p.H620F Missense 18/19 - 1
X-100608231-TG-AC c.1858_1859delinsGT p.H620V Missense 18/19 - 1
X-100608231-TG-AT c.1858_1859delinsAT p.H620I Missense 18/19 - 1
X-100608231-TG-CA c.1858_1859inv p.H620C Missense 18/19 - 1
X-100608231-TG-CC c.1858_1859delinsGG p.H620G Missense 18/19 - 1
X-100608231-TG-CT c.1858_1859delinsAG p.H620S Missense 18/19 - 1
X-100608231-TG-GC c.1858_1859delinsGC p.H620A Missense 18/19 - 1
X-100608231-TG-GT c.1858_1859delinsAC p.H620T Missense 18/19 - 1
X-100608232-G-A c.1858C>T p.H620Y Missense 18/19 - 2
X-100608232-G-C c.1858C>G p.H620D Missense 18/19 - 2
X-100608232-G-T c.1858C>A p.H620N Missense 18/19 - 2
X-100608233-AGG-CAT c.1855_1857delinsATG p.P619M Missense 18/19 - 1
X-100608233-AGG-CCA c.1855_1857delinsTGG p.P619W Missense 18/19 - 1
X-100608233-AGG-CTC c.1855_1857delinsGAG p.P619E Missense 18/19 - 1
X-100608233-AGG-CTT c.1855_1857delinsAAG p.P619K Missense 18/19 - 1
X-100608233-AG-TT c.1856_1857delinsAA p.P619Q Missense 18/19 - 1
X-100608234-G-A c.1856C>T p.P619L Missense 18/19 - 6
X-100608234-G-C c.1856C>G p.P619R Missense 18/19 - 2
X-100608234-GG-AA c.1855_1856delinsTT p.P619F Missense 18/19 - 1
X-100608234-GG-AC c.1855_1856delinsGT p.P619V Missense 18/19 - 1
X-100608234-GG-AT c.1855_1856delinsAT p.P619I Missense 18/19 - 1
X-100608234-GG-CA c.1855_1856delinsTG p.P619C Missense 18/19 - 1
X-100608234-GG-CC c.1855_1856inv p.P619G Missense 18/19 - 1
X-100608234-GG-TA c.1855_1856delinsTA p.P619Y Missense 18/19 - 1
X-100608234-GG-TC c.1855_1856delinsGA p.P619D Missense 18/19 - 1
X-100608234-GG-TT c.1855_1856delinsAA p.P619N Missense 18/19 - 1
X-100608234-G-T c.1856C>A p.P619H Missense 18/19 - 2
X-100608235-G-A c.1855C>T p.P619S Missense 18/19 - 6
X-100608235-G-C c.1855C>G p.P619A Missense 18/19 - 7
X-100608235-G-T c.1855C>A p.P619T Missense 18/19 - 6
X-100608236-C-A c.1854G>T p.R618S Missense 18/19 - 2
X-100608236-CC-GA c.1853_1854delinsTC p.R618I Missense 18/19 - 1
X-100608236-CC-GT c.1853_1854delinsAC p.R618N Missense 18/19 - 1
X-100608236-CCT-AAA c.1852_1854delinsTTT p.R618F Missense 18/19 - 1
X-100608236-CCT-ACA c.1852_1854delinsTGT p.R618C Missense 18/19 - 1
X-100608236-CCT-ATA c.1852_1854delinsTAT p.R618Y Missense 18/19 - 1
X-100608236-CCT-ATG c.1852_1854delinsCAT p.R618H Missense 18/19 - 2
X-100608236-CCT-GTC c.1852_1854delinsGAC p.R618D Missense 18/19 - 1
X-100608236-C-G c.1854G>C p.R618S Missense 18/19 - 2
X-100608237-C-A c.1853G>T p.R618M Missense 18/19 - 2
X-100608237-C-G c.1853G>C p.R618T Missense 18/19 - 2
X-100608237-C-T c.1853G>A p.R618K Missense 18/19 - 3
X-100608237-CT-AC c.1852_1853delinsGT p.R618V Missense 18/19 - 1
X-100608237-CT-AG c.1852_1853inv p.R618L Missense 18/19 - 1
X-100608237-CT-GC c.1852_1853delinsGC p.R618A Missense 18/19 - 1
X-100608237-CT-GG c.1852_1853delinsCC p.R618P Missense 18/19 - 1
X-100608237-CT-TC c.1852_1853delinsGA p.R618E Missense 18/19 - 1
X-100608237-CT-TG c.1852_1853delinsCA p.R618Q Missense 18/19 - 2
X-100608238-T-A c.1852A>T p.R618W Missense 18/19 - 2
X-100608238-T-C c.1852A>G p.R618G Missense 18/19 - 3
X-100608239-G-T c.1851C>A p.Y617* Nonsense 18/19 - 1
X-100608239-GTA-CAT c.1849_1851delinsATG p.Y617M Missense 18/19 - 1
X-100608239-GTA-CTC c.1849_1851delinsGAG p.Y617E Missense 18/19 - 1
X-100608239-GTA-CTT c.1849_1851delinsAAG p.Y617K Missense 18/19 - 1
X-100608239-GTA-TTG c.1849_1851delinsCAA p.Y617Q Missense 18/19 - 1
X-100608239-GT-CC c.1850_1851delinsGG p.Y617W Missense 18/19 - 1
X-100608240-T-A c.1850A>T p.Y617F Missense 18/19 - 2
X-100608240-TA-AC c.1849_1850delinsGT p.Y617V Missense 18/19 - 1
X-100608240-TA-AG c.1849_1850delinsCT p.Y617L Missense 18/19 - 1
X-100608240-TA-AT c.1849_1850delinsAT p.Y617I Missense 18/19 - 1
X-100608240-TA-CC c.1849_1850delinsGG p.Y617G Missense 18/19 - 1
X-100608240-TA-CG c.1849_1850delinsCG p.Y617R Missense 18/19 - 1
X-100608240-TA-GC c.1849_1850delinsGC p.Y617A Missense 18/19 - 1
X-100608240-TA-GG c.1849_1850delinsCC p.Y617P Missense 18/19 - 4
X-100608240-TA-GT c.1849_1850delinsAC p.Y617T Missense 18/19 - 1
X-100608240-T-C c.1850A>G p.Y617C Missense 18/19 - 2
X-100608240-T-G c.1850A>C p.Y617S Missense 18/19 - 2
X-100608241-A-C c.1849T>G p.Y617D Missense 18/19 - 2
X-100608241-A-G c.1849T>C p.Y617H Missense 18/19 - 2
X-100608241-A-T c.1849T>A p.Y617N Missense 18/19 - 2
X-100608242-G-A c.1848C>T p.L616= Synonymous 18/19 - 1
X-100608242-GAG-CAT c.1846_1848delinsATG p.L616M Missense 18/19 - 1
X-100608242-GAG-CCA c.1846_1848delinsTGG p.L616W Missense 18/19 - 1
X-100608242-GAG-CTC c.1846_1848inv p.L616E Missense 18/19 - 1
X-100608242-GAG-CTT c.1846_1848delinsAAG p.L616K Missense 18/19 - 1
X-100608242-GA-TT c.1847_1848delinsAA p.L616Q Missense 18/19 - 1
X-100608243-A-C c.1847T>G p.L616R Missense 18/19 - 2
X-100608243-A-G c.1847T>C p.L616P Missense 18/19 - 2
X-100608243-AG-CA c.1846_1847delinsTG p.L616C Missense 18/19 - 1
X-100608243-AG-CC c.1846_1847delinsGG p.L616G Missense 18/19 - 1
X-100608243-AG-CT c.1846_1847inv p.L616S Missense 18/19 - 1
X-100608243-AG-GC c.1846_1847delinsGC p.L616A Missense 18/19 - 1
X-100608243-AG-GT c.1846_1847delinsAC p.L616T Missense 18/19 - 1
X-100608243-AG-TA c.1846_1847delinsTA p.L616Y Missense 18/19 - 1
X-100608243-AG-TC c.1846_1847delinsGA p.L616D Missense 18/19 - 1
X-100608243-AG-TT c.1846_1847delinsAA p.L616N Missense 18/19 - 1
X-100608243-A-T c.1847T>A p.L616H Missense 18/19 - 2
X-100608244-G-A c.1846C>T p.L616F Missense 18/19 - 3
X-100608244-G-C c.1846C>G p.L616V Missense 18/19 - 2
X-100608244-G-T c.1846C>A p.L616I Missense 18/19 - 3
X-100608245-A-C c.1845T>G p.R615= Synonymous 18/19 - 1
X-100608245-ACG-CAT c.1843_1845delinsATG p.R615M Missense 18/19 - 1
X-100608245-ACG-CCA c.1843_1845delinsTGG p.R615W Missense 18/19 - 1
X-100608245-ACG-CTC c.1843_1845delinsGAG p.R615E Missense 18/19 - 1
X-100608245-ACG-CTT c.1843_1845delinsAAG p.R615K Missense 18/19 - 1
X-100608245-AC-TT c.1844_1845delinsAA p.R615Q Missense 18/19 - 2
X-100608246-C-A c.1844G>T p.R615L Missense 18/19 - 2
X-100608246-C-G c.1844G>C p.R615P Missense 18/19 - 4
X-100608246-CG-AA c.1843_1844delinsTT p.R615F Missense 18/19 - 1
X-100608246-CG-AC c.1843_1844delinsGT p.R615V Missense 18/19 - 1
X-100608246-CG-AT c.1843_1844delinsAT p.R615I Missense 18/19 - 1
X-100608246-CG-GC c.1843_1844delinsGC p.R615A Missense 18/19 - 1
X-100608246-CG-GT c.1843_1844delinsAC p.R615T Missense 18/19 - 1
X-100608246-CG-TA c.1843_1844delinsTA p.R615Y Missense 18/19 - 1
X-100608246-CG-TC c.1843_1844delinsGA p.R615D Missense 18/19 - 1
X-100608246-CG-TT c.1843_1844delinsAA p.R615N Missense 18/19 - 1
X-100608246-C-T c.1844G>A p.R615H Missense 18/19 - 4
X-100608247-G-A c.1843C>T p.R615C Missense 18/19 - 5
X-100608247-G-C c.1843C>G p.R615G Missense 18/19 - 2
X-100608247-G-T c.1843C>A p.R615S Missense 18/19 - 3
X-100608248-TA-AT c.1841_1842delinsAT p.L614H Missense 18/19 - 1
X-100608248-TAG-AAA c.1840_1842delinsTTT p.L614F Missense 18/19 - 1
X-100608248-TAG-ACA c.1840_1842delinsTGT p.L614C Missense 18/19 - 1
X-100608248-TAG-ATA c.1840_1842delinsTAT p.L614Y Missense 18/19 - 1
X-100608248-TAG-CAT c.1840_1842delinsATG p.L614M Missense 18/19 - 1
X-100608248-TAG-CCA c.1840_1842delinsTGG p.L614W Missense 18/19 - 1
X-100608248-TAG-GTC c.1840_1842delinsGAC p.L614D Missense 18/19 - 1
X-100608248-TAG-GTT c.1840_1842delinsAAC p.L614N Missense 18/19 - 1
X-100608249-A-C c.1841T>G p.L614R Missense 18/19 - 2
X-100608249-A-G c.1841T>C p.L614P Missense 18/19 - 2
X-100608249-AG-CC c.1840_1841delinsGG p.L614G Missense 18/19 - 1
X-100608249-AG-GA c.1840_1841delinsTC p.L614S Missense 18/19 - 1
X-100608249-AG-GC c.1840_1841delinsGC p.L614A Missense 18/19 - 1
X-100608249-AG-GT c.1840_1841delinsAC p.L614T Missense 18/19 - 1
X-100608249-AG-TC c.1840_1841delinsGA p.L614E Missense 18/19 - 1
X-100608249-AG-TT c.1840_1841delinsAA p.L614K Missense 18/19 - 1
X-100608249-A-T c.1841T>A p.L614Q Missense 18/19 - 4
X-100608250-G-C c.1840C>G p.L614V Missense 18/19 - 2
X-100608250-G-T c.1840C>A p.L614I Missense 18/19 - 2
X-100608251-GCC-CAT c.1837_1839delinsATG p.G613M Missense 18/19 - 1
X-100608251-GCC-CCA c.1837_1839delinsTGG p.G613W Missense 18/19 - 1
X-100608251-GCC-CTT c.1837_1839delinsAAG p.G613K Missense 18/19 - 1
X-100608251-GC-CT c.1838_1839delinsAG p.G613E Missense 18/19 - 1
X-100608251-GCC-TTG c.1837_1839delinsCAA p.G613Q Missense 18/19 - 1
X-100608252-C-A c.1838G>T p.G613V Missense 18/19 - 3
X-100608252-CC-AA c.1837_1838delinsTT p.G613F Missense 18/19 - 1
X-100608252-CC-AG c.1837_1838delinsCT p.G613L Missense 18/19 - 1
X-100608252-CC-AT c.1837_1838delinsAT p.G613I Missense 18/19 - 1
X-100608252-CC-GG c.1837_1838inv p.G613P Missense 18/19 - 1
X-100608252-CC-GT c.1837_1838delinsAC p.G613T Missense 18/19 - 1
X-100608252-CC-TA c.1837_1838delinsTA p.G613Y Missense 18/19 - 1
X-100608252-CC-TG c.1837_1838delinsCA p.G613H Missense 18/19 - 1
X-100608252-CC-TT c.1837_1838delinsAA p.G613N Missense 18/19 - 1
X-100608252-C-G c.1838G>C p.G613A Missense 18/19 - 3
X-100608252-C-T c.1838G>A p.G613D Missense 18/19 - 11
X-100608253-C-A c.1837G>T p.G613C Missense 18/19 - 2
X-100608253-C-G c.1837G>C p.G613R Missense 18/19 - 2
X-100608253-C-T c.1837G>A p.G613S Missense 18/19 - 3
X-100608254-T-A c.1836A>T p.Q612H Missense 18/19 - 2
X-100608254-T-G c.1836A>C p.Q612H Missense 18/19 - 2
X-100608254-TTG-AAA c.1834_1836delinsTTT p.Q612F Missense 18/19 - 1
X-100608254-TTG-ACA c.1834_1836delinsTGT p.Q612C Missense 18/19 - 1
X-100608254-TTG-ATA c.1834_1836delinsTAT p.Q612Y Missense 18/19 - 1
X-100608254-TTG-CAT c.1834_1836delinsATG p.Q612M Missense 18/19 - 1
X-100608254-TTG-CCA c.1834_1836delinsTGG p.Q612W Missense 18/19 - 1
X-100608254-TTG-GTC c.1834_1836delinsGAC p.Q612D Missense 18/19 - 1
X-100608254-TTG-GTT c.1834_1836delinsAAC p.Q612N Missense 18/19 - 1
X-100608255-T-A c.1835A>T p.Q612L Missense 18/19 - 2
X-100608255-T-C c.1835A>G p.Q612R Missense 18/19 - 3
X-100608255-T-G c.1835A>C p.Q612P Missense 18/19 - 3
X-100608255-TG-AC c.1834_1835delinsGT p.Q612V Missense 18/19 - 1
X-100608255-TG-AT c.1834_1835delinsAT p.Q612I Missense 18/19 - 1
X-100608255-TG-CC c.1834_1835delinsGG p.Q612G Missense 18/19 - 1
X-100608255-TG-GA c.1834_1835delinsTC p.Q612S Missense 18/19 - 1
X-100608255-TG-GC c.1834_1835delinsGC p.Q612A Missense 18/19 - 1
X-100608255-TG-GT c.1834_1835delinsAC p.Q612T Missense 18/19 - 1
X-100608256-G-A c.1834C>T p.Q612* Nonsense 18/19 - 1
X-100608256-G-C c.1834C>G p.Q612E Missense 18/19 - 3
X-100608256-G-T c.1834C>A p.Q612K Missense 18/19 - 2
X-100608257-GGC-CAT c.1831_1833delinsATG p.A611M Missense 18/19 - 1
X-100608257-GGC-CCA c.1831_1833delinsTGG p.A611W Missense 18/19 - 1
X-100608257-GGC-CTT c.1831_1833delinsAAG p.A611K Missense 18/19 - 1
X-100608257-GG-CT c.1832_1833delinsAG p.A611E Missense 18/19 - 1
X-100608257-GGC-TTG c.1831_1833delinsCAA p.A611Q Missense 18/19 - 1
X-100608255-TG-T c.1834del p.Q612Kfs*37 Frameshift 18/19 - 1
X-100608258-G-A c.1832C>T p.A611V Missense 18/19 - 2
X-100608258-G-C c.1832C>G p.A611G Missense 18/19 - 2
X-100608258-GC-AA c.1831_1832delinsTT p.A611F Missense 18/19 - 1
X-100608258-GC-AG c.1831_1832delinsCT p.A611L Missense 18/19 - 1
X-100608258-GC-AT c.1831_1832delinsAT p.A611I Missense 18/19 - 1
X-100608258-GC-CA c.1831_1832delinsTG p.A611C Missense 18/19 - 1
X-100608258-GC-CG c.1831_1832delinsCG p.A611R Missense 18/19 - 1
X-100608258-GC-TA c.1831_1832delinsTA p.A611Y Missense 18/19 - 1
X-100608258-GC-TG c.1831_1832delinsCA p.A611H Missense 18/19 - 1
X-100608258-GC-TT c.1831_1832delinsAA p.A611N Missense 18/19 - 1
X-100608258-G-T c.1832C>A p.A611D Missense 18/19 - 2
X-100608259-C-A c.1831G>T p.A611S Missense 18/19 - 3
X-100608259-C-G c.1831G>C p.A611P Missense 18/19 - 2
X-100608259-C-T c.1831G>A p.A611T Missense 18/19 - 3
X-100608260-AA-CC c.1829_1830delinsGG p.I610R Missense 18/19 - 1
X-100608260-AA-CT c.1829_1830delinsAG p.I610K Missense 18/19 - 1
X-100608260-AAT-CCA c.1828_1830delinsTGG p.I610W Missense 18/19 - 1
X-100608260-AAT-CTC c.1828_1830delinsGAG p.I610E Missense 18/19 - 1
X-100608260-AAT-TTG c.1828_1830delinsCAA p.I610Q Missense 18/19 - 1
X-100608260-A-C c.1830T>G p.I610M Missense 18/19 - 2
X-100608261-A-C c.1829T>G p.I610S Missense 18/19 - 2
X-100608261-A-G c.1829T>C p.I610T Missense 18/19 - 2
X-100608261-A-T c.1829T>A p.I610N Missense 18/19 - 2
X-100608261-AT-CA c.1828_1829delinsTG p.I610C Missense 18/19 - 1
X-100608261-AT-CC c.1828_1829delinsGG p.I610G Missense 18/19 - 1
X-100608261-AT-GC c.1828_1829delinsGC p.I610A Missense 18/19 - 1
X-100608261-AT-GG c.1828_1829delinsCC p.I610P Missense 18/19 - 1
X-100608261-AT-TA c.1828_1829delinsTA p.I610Y Missense 18/19 - 1
X-100608261-AT-TC c.1828_1829delinsGA p.I610D Missense 18/19 - 1
X-100608261-AT-TG c.1828_1829delinsCA p.I610H Missense 18/19 - 1
X-100608262-T-A c.1828A>T p.I610F Missense 18/19 - 2
X-100608262-T-C c.1828A>G p.I610V Missense 18/19 - 2
X-100608262-T-G c.1828A>C p.I610L Missense 18/19 - 2
X-100608263-G-C c.1827C>G p.H609Q Missense 18/19 - 2
X-100608263-G-T c.1827C>A p.H609Q Missense 18/19 - 2
X-100608263-GTG-CAT c.1825_1827delinsATG p.H609M Missense 18/19 - 1
X-100608263-GTG-CCA c.1825_1827delinsTGG p.H609W Missense 18/19 - 1
X-100608263-GTG-CTC c.1825_1827delinsGAG p.H609E Missense 18/19 - 1
X-100608263-GTG-CTT c.1825_1827delinsAAG p.H609K Missense 18/19 - 1
X-100608264-T-A c.1826A>T p.H609L Missense 18/19 - 3
X-100608264-T-C c.1826A>G p.H609R Missense 18/19 - 2
X-100608264-T-G c.1826A>C p.H609P Missense 18/19 - 2
X-100608264-TG-AA c.1825_1826delinsTT p.H609F Missense 18/19 - 1
X-100608264-TG-AC c.1825_1826delinsGT p.H609V Missense 18/19 - 1
X-100608264-TG-AT c.1825_1826delinsAT p.H609I Missense 18/19 - 1
X-100608264-TG-CA c.1825_1826inv p.H609C Missense 18/19 - 1
X-100608264-TG-CC c.1825_1826delinsGG p.H609G Missense 18/19 - 1
X-100608264-TG-CT c.1825_1826delinsAG p.H609S Missense 18/19 - 1
X-100608264-TG-GC c.1825_1826delinsGC p.H609A Missense 18/19 - 1
X-100608264-TG-GT c.1825_1826delinsAC p.H609T Missense 18/19 - 1
X-100608265-G-A c.1825C>T p.H609Y Missense 18/19 - 2
X-100608265-G-C c.1825C>G p.H609D Missense 18/19 - 2
X-100608265-G-T c.1825C>A p.H609N Missense 18/19 - 2
X-100608266-T-A c.1824A>T p.E608D Missense 18/19 - 3
X-100608266-T-G c.1824A>C p.E608D Missense 18/19 - 3
X-100608266-TTC-AAA c.1822_1824delinsTTT p.E608F Missense 18/19 - 1
X-100608266-TTC-ACA c.1822_1824delinsTGT p.E608C Missense 18/19 - 1
X-100608266-TTC-ATA c.1822_1824delinsTAT p.E608Y Missense 18/19 - 1
X-100608266-TTC-ATG c.1822_1824delinsCAT p.E608H Missense 18/19 - 1
X-100608266-TTC-CAT c.1822_1824delinsATG p.E608M Missense 18/19 - 1
X-100608266-TTC-CCA c.1822_1824delinsTGG p.E608W Missense 18/19 - 1
X-100608266-TTC-GTT c.1822_1824delinsAAC p.E608N Missense 18/19 - 1
X-100608267-T-A c.1823A>T p.E608V Missense 18/19 - 2
X-100608267-T-C c.1823A>G p.E608G Missense 18/19 - 3
X-100608267-TC-AG c.1822_1823delinsCT p.E608L Missense 18/19 - 1
X-100608267-TC-AT c.1822_1823delinsAT p.E608I Missense 18/19 - 1
X-100608267-TC-CT c.1822_1823delinsAG p.E608R Missense 18/19 - 1
X-100608267-TC-GA c.1822_1823inv p.E608S Missense 18/19 - 1
X-100608267-TC-GG c.1822_1823delinsCC p.E608P Missense 18/19 - 1
X-100608267-TC-GT c.1822_1823delinsAC p.E608T Missense 18/19 - 1
X-100608267-T-G c.1823A>C p.E608A Missense 18/19 - 2
X-100608268-C-A c.1822G>T p.E608* Nonsense 18/19 - 1
X-100608268-C-G c.1822G>C p.E608Q Missense 18/19 - 2
X-100608268-C-T c.1822G>A p.E608K Missense 18/19 - 3
X-100608269-AGC-CAT c.1819_1821delinsATG p.A607M Missense 18/19 - 1
X-100608269-AGC-CCA c.1819_1821delinsTGG p.A607W Missense 18/19 - 1
X-100608269-AGC-CTT c.1819_1821delinsAAG p.A607K Missense 18/19 - 1
X-100608269-AG-CT c.1820_1821inv p.A607E Missense 18/19 - 1
X-100608269-AGC-TTG c.1819_1821delinsCAA p.A607Q Missense 18/19 - 1
X-100608270-G-A c.1820C>T p.A607V Missense 18/19 - 2
X-100608270-G-C c.1820C>G p.A607G Missense 18/19 - 2
X-100608270-GC-AA c.1819_1820delinsTT p.A607F Missense 18/19 - 1
X-100608270-GC-AG c.1819_1820delinsCT p.A607L Missense 18/19 - 1
X-100608270-GC-AT c.1819_1820delinsAT p.A607I Missense 18/19 - 1
X-100608270-GC-CA c.1819_1820delinsTG p.A607C Missense 18/19 - 1
X-100608270-GC-CG c.1819_1820delinsCG p.A607R Missense 18/19 - 1
X-100608270-GC-TA c.1819_1820delinsTA p.A607Y Missense 18/19 - 1
X-100608270-GC-TG c.1819_1820delinsCA p.A607H Missense 18/19 - 1
X-100608270-GC-TT c.1819_1820delinsAA p.A607N Missense 18/19 - 1
X-100608270-G-T c.1820C>A p.A607D Missense 18/19 - 7
X-100608271-C-A c.1819G>T p.A607S Missense 18/19 - 2
X-100608271-C-G c.1819G>C p.A607P Missense 18/19 - 2
X-100608271-C-T c.1819G>A p.A607T Missense 18/19 - 3
X-100608272-A-C c.1818T>G p.T606= Synonymous 18/19 - 3
X-100608272-A-G c.1818T>C p.T606= Synonymous 18/19 - 2
X-100608272-AG-CA c.1817_1818delinsTG p.T606M Missense 18/19 - 1
X-100608272-AG-CC c.1817_1818delinsGG p.T606R Missense 18/19 - 1
X-100608272-AG-CT c.1817_1818inv p.T606K Missense 18/19 - 1
X-100608272-AGT-CCA c.1816_1818delinsTGG p.T606W Missense 18/19 - 1
X-100608272-AGT-CTC c.1816_1818delinsGAG p.T606E Missense 18/19 - 1
X-100608272-AGT-TTG c.1816_1818delinsCAA p.T606Q Missense 18/19 - 1
X-100608272-A-T c.1818T>A p.T606= Synonymous 18/19 - 2
X-100608273-G-A c.1817C>T p.T606I Missense 18/19 - 2
X-100608273-G-C c.1817C>G p.T606S Missense 18/19 - 2
X-100608273-G-T c.1817C>A p.T606N Missense 18/19 - 2
X-100608273-GT-AA c.1816_1817delinsTT p.T606F Missense 18/19 - 1
X-100608273-GT-AC c.1816_1817inv p.T606V Missense 18/19 - 1
X-100608273-GT-AG c.1816_1817delinsCT p.T606L Missense 18/19 - 1
X-100608273-GT-CA c.1816_1817delinsTG p.T606C Missense 18/19 - 1
X-100608273-GT-CC c.1816_1817delinsGG p.T606G Missense 18/19 - 1
X-100608273-GT-TA c.1816_1817delinsTA p.T606Y Missense 18/19 - 1
X-100608273-GT-TC c.1816_1817delinsGA p.T606D Missense 18/19 - 1
X-100608273-GT-TG c.1816_1817delinsCA p.T606H Missense 18/19 - 1
X-100608274-T-A c.1816A>T p.T606S Missense 18/19 - 2
X-100608274-T-C c.1816A>G p.T606A Missense 18/19 - 2
X-100608274-T-G c.1816A>C p.T606P Missense 18/19 - 2
X-100608275-C-A c.1815G>T p.E605D Missense 18/19 - 3
X-100608275-C-G c.1815G>C p.E605D Missense 18/19 - 3
X-100608275-CTC-AAA c.1813_1815delinsTTT p.E605F Missense 18/19 - 1
X-100608275-CTC-ACA c.1813_1815delinsTGT p.E605C Missense 18/19 - 1
X-100608275-CTC-ATA c.1813_1815delinsTAT p.E605Y Missense 18/19 - 1
X-100608275-CTC-ATG c.1813_1815delinsCAT p.E605H Missense 18/19 - 1
X-100608275-CTC-GAT c.1813_1815delinsATC p.E605I Missense 18/19 - 1
X-100608275-CTC-GTT c.1813_1815delinsAAC p.E605N Missense 18/19 - 1
X-100608276-T-A c.1814A>T p.E605V Missense 18/19 - 3
X-100608276-T-C c.1814A>G p.E605G Missense 18/19 - 2
X-100608276-TC-AG c.1813_1814delinsCT p.E605L Missense 18/19 - 1
X-100608276-TC-AT c.1813_1814delinsAT p.E605M Missense 18/19 - 1
X-100608276-TC-CA c.1813_1814delinsTG p.E605W Missense 18/19 - 1
X-100608276-TC-CT c.1813_1814delinsAG p.E605R Missense 18/19 - 1
X-100608276-TC-GA c.1813_1814inv p.E605S Missense 18/19 - 1
X-100608276-TC-GG c.1813_1814delinsCC p.E605P Missense 18/19 - 1
X-100608276-TC-GT c.1813_1814delinsAC p.E605T Missense 18/19 - 1
X-100608276-T-G c.1814A>C p.E605A Missense 18/19 - 2
X-100608277-C-A c.1813G>T p.E605* Nonsense 18/19 - 1
X-100608277-C-G c.1813G>C p.E605Q Missense 18/19 - 2
X-100608277-C-T c.1813G>A p.E605K Missense 18/19 - 9
X-100608278-A-C c.1812T>G p.S604R Missense 18/19 - 2
X-100608278-AC-CA c.1811_1812delinsTG p.S604M Missense 18/19 - 1
X-100608278-AC-CT c.1811_1812delinsAG p.S604K Missense 18/19 - 1
X-100608278-ACT-CCA c.1810_1812delinsTGG p.S604W Missense 18/19 - 1
X-100608278-ACT-CTC c.1810_1812delinsGAG p.S604E Missense 18/19 - 1
X-100608278-ACT-TTG c.1810_1812delinsCAA p.S604Q Missense 18/19 - 1
X-100608278-A-T c.1812T>A p.S604R Missense 18/19 - 2
X-100608280-T-G c.1810A>C p.S604R Missense 18/19 - 2
X-100608279-C-A c.1811G>T p.S604I Missense 18/19 - 5
X-100608279-C-G c.1811G>C p.S604T Missense 18/19 - 2
X-100608279-C-T c.1811G>A p.S604N Missense 18/19 - 2
X-100608279-CT-AA c.1810_1811delinsTT p.S604F Missense 18/19 - 1
X-100608279-CT-AC c.1810_1811delinsGT p.S604V Missense 18/19 - 1
X-100608279-CT-AG c.1810_1811inv p.S604L Missense 18/19 - 2
X-100608279-CT-GC c.1810_1811delinsGC p.S604A Missense 18/19 - 1
X-100608279-CT-GG c.1810_1811delinsCC p.S604P Missense 18/19 - 1
X-100608279-CT-TA c.1810_1811delinsTA p.S604Y Missense 18/19 - 1
X-100608279-CT-TC c.1810_1811delinsGA p.S604D Missense 18/19 - 1
X-100608279-CT-TG c.1810_1811delinsCA p.S604H Missense 18/19 - 1
X-100608280-T-A c.1810A>T p.S604C Missense 18/19 - 2
X-100608280-T-C c.1810A>G p.S604G Missense 18/19 - 2
X-100608281-G-C c.1809C>G p.N603K Missense 18/19 - 2
X-100608281-G-T c.1809C>A p.N603K Missense 18/19 - 2
X-100608281-GT-CA c.1808_1809delinsTG p.N603M Missense 18/19 - 1
X-100608281-GT-CC c.1808_1809delinsGG p.N603R Missense 18/19 - 1
X-100608281-GTT-CCA c.1807_1809delinsTGG p.N603W Missense 18/19 - 1
X-100608281-GTT-CTC c.1807_1809delinsGAG p.N603E Missense 18/19 - 1
X-100608281-GTT-TTG c.1807_1809delinsCAA p.N603Q Missense 18/19 - 1
X-100608282-T-A c.1808A>T p.N603I Missense 18/19 - 2
X-100608282-T-C c.1808A>G p.N603S Missense 18/19 - 3
X-100608282-T-G c.1808A>C p.N603T Missense 18/19 - 2
X-100608282-TT-AA c.1807_1808inv p.N603F Missense 18/19 - 1
X-100608282-TT-AC c.1807_1808delinsGT p.N603V Missense 18/19 - 1
X-100608282-TT-AG c.1807_1808delinsCT p.N603L Missense 18/19 - 1
X-100608282-TT-CA c.1807_1808delinsTG p.N603C Missense 18/19 - 1
X-100608282-TT-CC c.1807_1808delinsGG p.N603G Missense 18/19 - 1
X-100608282-TT-GC c.1807_1808delinsGC p.N603A Missense 18/19 - 1
X-100608282-TT-GG c.1807_1808delinsCC p.N603P Missense 18/19 - 1
X-100608283-T-A c.1807A>T p.N603Y Missense 18/19 - 2
X-100608283-T-C c.1807A>G p.N603D Missense 18/19 - 6
X-100608283-T-G c.1807A>C p.N603H Missense 18/19 - 2
X-100608284-AG-CA c.1805_1806delinsTG p.T602M Missense 18/19 - 1
X-100608284-AG-CC c.1805_1806delinsGG p.T602R Missense 18/19 - 1
X-100608284-AG-CT c.1805_1806inv p.T602K Missense 18/19 - 1
X-100608284-AGT-CCA c.1804_1806delinsTGG p.T602W Missense 18/19 - 1
X-100608284-AGT-CTC c.1804_1806delinsGAG p.T602E Missense 18/19 - 1
X-100608284-AGT-TTG c.1804_1806delinsCAA p.T602Q Missense 18/19 - 1
X-100608285-G-A c.1805C>T p.T602I Missense 18/19 - 4
X-100608285-G-C c.1805C>G p.T602S Missense 18/19 - 2
X-100608285-G-T c.1805C>A p.T602N Missense 18/19 - 2
X-100608285-GT-AA c.1804_1805delinsTT p.T602F Missense 18/19 - 1
X-100608285-GT-AC c.1804_1805inv p.T602V Missense 18/19 - 1
X-100608285-GT-AG c.1804_1805delinsCT p.T602L Missense 18/19 - 1
X-100608285-GT-CA c.1804_1805delinsTG p.T602C Missense 18/19 - 1
X-100608285-GT-CC c.1804_1805delinsGG p.T602G Missense 18/19 - 1
X-100608285-GT-TA c.1804_1805delinsTA p.T602Y Missense 18/19 - 1
X-100608285-GT-TC c.1804_1805delinsGA p.T602D Missense 18/19 - 1
X-100608285-GT-TG c.1804_1805delinsCA p.T602H Missense 18/19 - 1
X-100608286-T-A c.1804A>T p.T602S Missense 18/19 - 2
X-100608286-T-C c.1804A>G p.T602A Missense 18/19 - 2
X-100608286-T-G c.1804A>C p.T602P Missense 18/19 - 2
X-100608287-AAA-CAT c.1801_1803delinsATG p.F601M Missense 18/19 - 1
X-100608287-AAA-CTC c.1801_1803delinsGAG p.F601E Missense 18/19 - 1
X-100608287-AAA-CTT c.1801_1803delinsAAG p.F601K Missense 18/19 - 1
X-100608287-AAA-TTG c.1801_1803delinsCAA p.F601Q Missense 18/19 - 1
X-100608287-AA-CC c.1802_1803delinsGG p.F601W Missense 18/19 - 1
X-100608287-A-G c.1803T>C p.F601= Synonymous 18/19 - 1
X-100608288-AA-CC c.1801_1802delinsGG p.F601G Missense 18/19 - 1
X-100608288-AA-CG c.1801_1802delinsCG p.F601R Missense 18/19 - 1
X-100608288-AA-GC c.1801_1802delinsGC p.F601A Missense 18/19 - 1
X-100608288-AA-GG c.1801_1802delinsCC p.F601P Missense 18/19 - 1
X-100608288-AA-GT c.1801_1802delinsAC p.F601T Missense 18/19 - 1
X-100608288-AA-TC c.1801_1802delinsGA p.F601D Missense 18/19 - 1
X-100608288-AA-TG c.1801_1802delinsCA p.F601H Missense 18/19 - 1
X-100608288-AA-TT c.1801_1802inv p.F601N Missense 18/19 - 1
X-100608288-A-C c.1802T>G p.F601C Missense 18/19 - 2
X-100608288-A-G c.1802T>C p.F601S Missense 18/19 - 2
X-100608288-A-T c.1802T>A p.F601Y Missense 18/19 - 2
X-100608287-A-C c.1803T>G p.F601L Missense 18/19 - 3
X-100608287-A-T c.1803T>A p.F601L Missense 18/19 - 3
X-100608289-A-C c.1801T>G p.F601V Missense 18/19 - 2
X-100608289-A-G c.1801T>C p.F601L Missense 18/19 - 3
X-100608289-A-T c.1801T>A p.F601I Missense 18/19 - 2
X-100608290-T-A c.1800A>T p.R600S Missense 18/19 - 3
X-100608290-TC-CA c.1799_1800delinsTG p.R600M Missense 18/19 - 1
X-100608290-TC-GT c.1799_1800delinsAC p.R600N Missense 18/19 - 1
X-100608290-TCT-AAA c.1798_1800delinsTTT p.R600F Missense 18/19 - 1
X-100608290-TCT-ACA c.1798_1800delinsTGT p.R600C Missense 18/19 - 2
X-100608290-TCT-ATA c.1798_1800delinsTAT p.R600Y Missense 18/19 - 1
X-100608290-TCT-ATG c.1798_1800delinsCAT p.R600H Missense 18/19 - 2
X-100608290-TCT-CCA c.1798_1800delinsTGG p.R600W Missense 18/19 - 1
X-100608290-TCT-GTC c.1798_1800delinsGAC p.R600D Missense 18/19 - 1
X-100608290-T-G c.1800A>C p.R600S Missense 18/19 - 3
X-100608291-C-A c.1799G>T p.R600I Missense 18/19 - 3
X-100608291-C-G c.1799G>C p.R600T Missense 18/19 - 2
X-100608291-C-T c.1799G>A p.R600K Missense 18/19 - 3
X-100608291-CT-AC c.1798_1799delinsGT p.R600V Missense 18/19 - 1
X-100608291-CT-AG c.1798_1799inv p.R600L Missense 18/19 - 1
X-100608291-CT-GC c.1798_1799delinsGC p.R600A Missense 18/19 - 1
X-100608291-CT-GG c.1798_1799delinsCC p.R600P Missense 18/19 - 1
X-100608291-CT-TC c.1798_1799delinsGA p.R600E Missense 18/19 - 1
X-100608291-CT-TG c.1798_1799delinsCA p.R600Q Missense 18/19 - 1
X-100608292-T-C c.1798A>G p.R600G Missense 18/19 - 2
X-100608293-C-A c.1797G>T p.E599D Missense 18/19 - 4
X-100608293-C-G c.1797G>C p.E599D Missense 18/19 - 6
X-100608293-CTC-AAA c.1795_1797delinsTTT p.E599F Missense 18/19 - 1
X-100608293-CTC-ACA c.1795_1797delinsTGT p.E599C Missense 18/19 - 1
X-100608293-CTC-ATA c.1795_1797delinsTAT p.E599Y Missense 18/19 - 1
X-100608293-CTC-ATG c.1795_1797delinsCAT p.E599H Missense 18/19 - 1
X-100608293-CTC-GAT c.1795_1797delinsATC p.E599I Missense 18/19 - 1
X-100608293-CTC-GTT c.1795_1797delinsAAC p.E599N Missense 18/19 - 1
X-100608294-T-A c.1796A>T p.E599V Missense 18/19 - 3
X-100608294-T-C c.1796A>G p.E599G Missense 18/19 - 2
X-100608294-TC-AG c.1795_1796delinsCT p.E599L Missense 18/19 - 1
X-100608294-TC-AT c.1795_1796delinsAT p.E599M Missense 18/19 - 1
X-100608294-TC-CA c.1795_1796delinsTG p.E599W Missense 18/19 - 1
X-100608294-TC-CT c.1795_1796delinsAG p.E599R Missense 18/19 - 1
X-100608294-TC-GA c.1795_1796inv p.E599S Missense 18/19 - 1
X-100608294-TC-GG c.1795_1796delinsCC p.E599P Missense 18/19 - 1
X-100608294-TC-GT c.1795_1796delinsAC p.E599T Missense 18/19 - 1
X-100608294-T-G c.1796A>C p.E599A Missense 18/19 - 2
X-100608295-C-G c.1795G>C p.E599Q Missense 18/19 - 2
X-100608295-C-T c.1795G>A p.E599K Missense 18/19 - 3
X-100608296-A-C c.1794T>G p.Y598* Nonsense 18/19 - 1
X-100608296-A-G c.1794T>C p.Y598= Synonymous 18/19 - 1
X-100608296-A-T c.1794T>A p.Y598* Nonsense 18/19 - 1
X-100608296-ATA-CAT c.1792_1794delinsATG p.Y598M Missense 18/19 - 1
X-100608296-ATA-CTC c.1792_1794delinsGAG p.Y598E Missense 18/19 - 1
X-100608296-ATA-CTT c.1792_1794delinsAAG p.Y598K Missense 18/19 - 1
X-100608296-ATA-TTG c.1792_1794delinsCAA p.Y598Q Missense 18/19 - 1
X-100608296-AT-CC c.1793_1794delinsGG p.Y598W Missense 18/19 - 1
X-100608297-T-A c.1793A>T p.Y598F Missense 18/19 - 3
X-100608297-TA-AC c.1792_1793delinsGT p.Y598V Missense 18/19 - 1
X-100608297-TA-AG c.1792_1793delinsCT p.Y598L Missense 18/19 - 1
X-100608297-TA-AT c.1792_1793delinsAT p.Y598I Missense 18/19 - 1
X-100608297-TA-CC c.1792_1793delinsGG p.Y598G Missense 18/19 - 1
X-100608297-TA-CG c.1792_1793delinsCG p.Y598R Missense 18/19 - 1
X-100608297-TA-GC c.1792_1793delinsGC p.Y598A Missense 18/19 - 1
X-100608297-TA-GG c.1792_1793delinsCC p.Y598P Missense 18/19 - 1
X-100608297-TA-GT c.1792_1793delinsAC p.Y598T Missense 18/19 - 1
X-100608297-T-C c.1793A>G p.Y598C Missense 18/19 - 5
X-100608297-T-G c.1793A>C p.Y598S Missense 18/19 - 2
X-100608298-A-C c.1792T>G p.Y598D Missense 18/19 - 2
X-100608298-A-G c.1792T>C p.Y598H Missense 18/19 - 2
X-100608298-A-T c.1792T>A p.Y598N Missense 18/19 - 2
X-100608299-TG-AT c.1790_1791delinsAT p.P597H Missense 18/19 - 1
X-100608299-TGG-AAA c.1789_1791delinsTTT p.P597F Missense 18/19 - 1
X-100608299-TGG-ACA c.1789_1791delinsTGT p.P597C Missense 18/19 - 1
X-100608299-TGG-ATA c.1789_1791delinsTAT p.P597Y Missense 18/19 - 1
X-100608299-TGG-CAT c.1789_1791delinsATG p.P597M Missense 18/19 - 1
X-100608299-TGG-CCA c.1789_1791inv p.P597W Missense 18/19 - 1
X-100608299-TGG-GTC c.1789_1791delinsGAC p.P597D Missense 18/19 - 1
X-100608299-TGG-GTT c.1789_1791delinsAAC p.P597N Missense 18/19 - 1
X-100608300-G-A c.1790C>T p.P597L Missense 18/19 - 2
X-100608300-G-C c.1790C>G p.P597R Missense 18/19 - 2
X-100608300-GG-AC c.1789_1790delinsGT p.P597V Missense 18/19 - 1
X-100608300-GG-AT c.1789_1790delinsAT p.P597I Missense 18/19 - 1
X-100608300-GG-CC c.1789_1790inv p.P597G Missense 18/19 - 1
X-100608300-GG-TC c.1789_1790delinsGA p.P597E Missense 18/19 - 1
X-100608300-GG-TT c.1789_1790delinsAA p.P597K Missense 18/19 - 1
X-100608300-G-T c.1790C>A p.P597Q Missense 18/19 - 2
X-100608301-G-A c.1789C>T p.P597S Missense 18/19 - 3
X-100608301-G-C c.1789C>G p.P597A Missense 18/19 - 2
X-100608301-G-T c.1789C>A p.P597T Missense 18/19 - 3
X-100608302-C-A c.1788G>T p.M596I Missense 18/19 - 2
X-100608302-CA-GC c.1787_1788delinsGC p.M596S Missense 18/19 - 1
X-100608302-CA-GT c.1787_1788delinsAC p.M596N Missense 18/19 - 1
X-100608302-CAT-AAA c.1786_1788delinsTTT p.M596F Missense 18/19 - 1
X-100608302-CAT-ACA c.1786_1788delinsTGT p.M596C Missense 18/19 - 1
X-100608302-CAT-ATA c.1786_1788delinsTAT p.M596Y Missense 18/19 - 1
X-100608302-CAT-ATG c.1786_1788inv p.M596H Missense 18/19 - 1
X-100608302-CAT-GTC c.1786_1788delinsGAC p.M596D Missense 18/19 - 1
X-100608302-C-G c.1788G>C p.M596I Missense 18/19 - 2
X-100608302-C-T c.1788G>A p.M596I Missense 18/19 - 2
X-100608303-A-C c.1787T>G p.M596R Missense 18/19 - 2
X-100608303-A-G c.1787T>C p.M596T Missense 18/19 - 2
X-100608303-A-T c.1787T>A p.M596K Missense 18/19 - 2
X-100608303-AT-CA c.1786_1787delinsTG p.M596W Missense 18/19 - 1
X-100608303-AT-CC c.1786_1787delinsGG p.M596G Missense 18/19 - 1
X-100608303-AT-GC c.1786_1787delinsGC p.M596A Missense 18/19 - 1
X-100608303-AT-GG c.1786_1787delinsCC p.M596P Missense 18/19 - 1
X-100608303-AT-TC c.1786_1787delinsGA p.M596E Missense 18/19 - 1
X-100608303-AT-TG c.1786_1787delinsCA p.M596Q Missense 18/19 - 1
X-100608304-T-A c.1786A>T p.M596L Missense 18/19 - 3
X-100608304-T-C c.1786A>G p.M596V Missense 18/19 - 2
X-100608304-T-G c.1786A>C p.M596L Missense 18/19 - 1
X-100608305-C-A c.1785G>T p.K595N Missense 18/19 - 3
X-100608305-C-G c.1785G>C p.K595N Missense 18/19 - 2
X-100608305-CT-GA c.1784_1785delinsTC p.K595I Missense 18/19 - 2
X-100608305-CT-GC c.1784_1785delinsGC p.K595S Missense 18/19 - 1
X-100608305-CTT-AAA c.1783_1785delinsTTT p.K595F Missense 18/19 - 1
X-100608305-CTT-ACA c.1783_1785delinsTGT p.K595C Missense 18/19 - 1
X-100608305-CTT-ATA c.1783_1785delinsTAT p.K595Y Missense 18/19 - 1
X-100608305-CTT-ATG c.1783_1785delinsCAT p.K595H Missense 18/19 - 1
X-100608305-CTT-GTC c.1783_1785delinsGAC p.K595D Missense 18/19 - 1
X-100608306-T-A c.1784A>T p.K595M Missense 18/19 - 2
X-100608306-T-C c.1784A>G p.K595R Missense 18/19 - 2
X-100608306-T-G c.1784A>C p.K595T Missense 18/19 - 2
X-100608306-TT-AC c.1783_1784delinsGT p.K595V Missense 18/19 - 1
X-100608306-TT-AG c.1783_1784delinsCT p.K595L Missense 18/19 - 1
X-100608306-TT-CA c.1783_1784delinsTG p.K595W Missense 18/19 - 1
X-100608306-TT-CC c.1783_1784delinsGG p.K595G Missense 18/19 - 1
X-100608306-TT-GC c.1783_1784delinsGC p.K595A Missense 18/19 - 1
X-100608306-TT-GG c.1783_1784delinsCC p.K595P Missense 18/19 - 1
X-100608305-C-CT c.1784dup p.M596Dfs*4 Frameshift 18/19 - 1
X-100608307-T-C c.1783A>G p.K595E Missense 18/19 - 2
X-100608307-T-G c.1783A>C p.K595Q Missense 18/19 - 2
X-100608307-TTCCC-T c.1780_1783del p.G594Rfs*54 Frameshift 18/19 - 1
X-100608308-C-A c.1782G>T p.G594= Synonymous 18/19 - 2
X-100608308-CCC-AAA c.1780_1782delinsTTT p.G594F Missense 18/19 - 1
X-100608308-CCC-ACA c.1780_1782delinsTGT p.G594C Missense 18/19 - 1
X-100608308-CCC-ATA c.1780_1782delinsTAT p.G594Y Missense 18/19 - 1
X-100608308-CCC-ATG c.1780_1782delinsCAT p.G594H Missense 18/19 - 1
X-100608308-CCC-GAT c.1780_1782delinsATC p.G594I Missense 18/19 - 1
X-100608308-CCC-GCT c.1780_1782delinsAGC p.G594S Missense 18/19 - 1
X-100608308-CCC-GTT c.1780_1782delinsAAC p.G594N Missense 18/19 - 1
X-100608308-CC-GT c.1781_1782delinsAC p.G594D Missense 18/19 - 1
X-100608308-C-G c.1782G>C p.G594= Synonymous 18/19 - 2
X-100608308-C-T c.1782G>A p.G594= Synonymous 18/19 - 5
X-100608309-C-A c.1781G>T p.G594V Missense 18/19 - 2
X-100608309-CC-AG c.1780_1781delinsCT p.G594L Missense 18/19 - 1
X-100608309-CC-AT c.1780_1781delinsAT p.G594M Missense 18/19 - 1
X-100608309-CC-GG c.1780_1781inv p.G594P Missense 18/19 - 1
X-100608309-CC-GT c.1780_1781delinsAC p.G594T Missense 18/19 - 1
X-100608309-CC-TG c.1780_1781delinsCA p.G594Q Missense 18/19 - 1
X-100608309-CC-TT c.1780_1781delinsAA p.G594K Missense 18/19 - 1
X-100608309-C-G c.1781G>C p.G594A Missense 18/19 - 2
X-100608309-C-T c.1781G>A p.G594E Missense 18/19 - 10
X-100608310-C-A c.1780G>T p.G594W Missense 18/19 - 3
X-100608310-C-G c.1780G>C p.G594R Missense 18/19 - 5
X-100608310-C-T c.1780G>A p.G594R Missense 18/19 - 8
X-100608307-TC-T c.1782del p.K595Rfs*54 Frameshift 18/19 - 3
X-100608311-C-A c.1779G>T p.L593= Synonymous 18/19 - 1
X-100608311-CA-AT c.1778_1779delinsAT p.L593H Missense 18/19 - 1
X-100608311-CAG-AAA c.1777_1779delinsTTT p.L593F Missense 18/19 - 1
X-100608311-CAG-ACA c.1777_1779delinsTGT p.L593C Missense 18/19 - 1
X-100608311-CAG-ATA c.1777_1779delinsTAT p.L593Y Missense 18/19 - 1
X-100608311-CAG-GAT c.1777_1779delinsATC p.L593I Missense 18/19 - 1
X-100608311-CAG-GTC c.1777_1779delinsGAC p.L593D Missense 18/19 - 1
X-100608311-CAG-GTT c.1777_1779delinsAAC p.L593N Missense 18/19 - 1
X-100608311-C-G c.1779G>C p.L593= Synonymous 18/19 - 1
X-100608311-C-T c.1779G>A p.L593= Synonymous 18/19 - 1
X-100608312-A-C c.1778T>G p.L593R Missense 18/19 - 2
X-100608312-A-G c.1778T>C p.L593P Missense 18/19 - 2
X-100608312-AG-CA c.1777_1778delinsTG p.L593W Missense 18/19 - 1
X-100608312-AG-CC c.1777_1778delinsGG p.L593G Missense 18/19 - 1
X-100608312-AG-GA c.1777_1778delinsTC p.L593S Missense 18/19 - 1
X-100608312-AG-GC c.1777_1778delinsGC p.L593A Missense 18/19 - 1
X-100608312-AG-GT c.1777_1778delinsAC p.L593T Missense 18/19 - 1
X-100608312-AG-TC c.1777_1778delinsGA p.L593E Missense 18/19 - 1
X-100608312-AG-TT c.1777_1778delinsAA p.L593K Missense 18/19 - 1
X-100608312-A-T c.1778T>A p.L593Q Missense 18/19 - 2
X-100608313-G-A c.1777C>T p.L593= Synonymous 18/19 - 2
X-100608313-G-C c.1777C>G p.L593V Missense 18/19 - 2
X-100608313-G-T c.1777C>A p.L593M Missense 18/19 - 2
X-100608314-G-A c.1776C>T p.S592= Synonymous 18/19 - 1
X-100608314-GGA-CAT c.1774_1776delinsATG p.S592M Missense 18/19 - 1
X-100608314-GGA-CTC c.1774_1776delinsGAG p.S592E Missense 18/19 - 1
X-100608314-GGA-CTT c.1774_1776delinsAAG p.S592K Missense 18/19 - 1
X-100608314-GGA-TTG c.1774_1776delinsCAA p.S592Q Missense 18/19 - 1
X-100608314-GG-CC c.1775_1776inv p.S592W Missense 18/19 - 1
X-100608314-G-T c.1776C>A p.S592= Synonymous 18/19 - 1
X-100608315-G-A c.1775C>T p.S592F Missense 18/19 - 13
X-100608315-GA-AC c.1774_1775delinsGT p.S592V Missense 18/19 - 1
X-100608315-GA-AG c.1774_1775delinsCT p.S592L Missense 18/19 - 1
X-100608315-GA-AT c.1774_1775delinsAT p.S592I Missense 18/19 - 1
X-100608315-GA-CC c.1774_1775delinsGG p.S592G Missense 18/19 - 1
X-100608315-GA-CG c.1774_1775delinsCG p.S592R Missense 18/19 - 1
X-100608315-GA-TC c.1774_1775inv p.S592D Missense 18/19 - 1
X-100608315-GA-TG c.1774_1775delinsCA p.S592H Missense 18/19 - 1
X-100608315-GA-TT c.1774_1775delinsAA p.S592N Missense 18/19 - 1
X-100608315-G-C c.1775C>G p.S592C Missense 18/19 - 2
X-100608315-G-T c.1775C>A p.S592Y Missense 18/19 - 3
X-100608316-A-C c.1774T>G p.S592A Missense 18/19 - 2
X-100608316-A-G c.1774T>C p.S592P Missense 18/19 - 4
X-100608316-A-T c.1774T>A p.S592T Missense 18/19 - 2
X-100608317-GTA-CAT c.1771_1773delinsATG p.Y591M Missense 18/19 - 1
X-100608317-GTA-CTC c.1771_1773delinsGAG p.Y591E Missense 18/19 - 1
X-100608317-GTA-CTT c.1771_1773delinsAAG p.Y591K Missense 18/19 - 1
X-100608317-GTA-TTG c.1771_1773delinsCAA p.Y591Q Missense 18/19 - 1
X-100608317-GT-CC c.1772_1773delinsGG p.Y591W Missense 18/19 - 1
X-100608318-T-A c.1772A>T p.Y591F Missense 18/19 - 3
X-100608318-TA-AC c.1771_1772delinsGT p.Y591V Missense 18/19 - 1
X-100608318-TA-AG c.1771_1772delinsCT p.Y591L Missense 18/19 - 1
X-100608318-TA-AT c.1771_1772delinsAT p.Y591I Missense 18/19 - 1
X-100608318-TA-CC c.1771_1772delinsGG p.Y591G Missense 18/19 - 1
X-100608318-TA-CG c.1771_1772delinsCG p.Y591R Missense 18/19 - 1
X-100608318-TA-GC c.1771_1772delinsGC p.Y591A Missense 18/19 - 1
X-100608318-TA-GG c.1771_1772delinsCC p.Y591P Missense 18/19 - 1
X-100608318-TA-GT c.1771_1772delinsAC p.Y591T Missense 18/19 - 1
X-100608318-T-C c.1772A>G p.Y591C Missense 18/19 - 2
X-100608318-T-G c.1772A>C p.Y591S Missense 18/19 - 3
X-100608319-A-C c.1771T>G p.Y591D Missense 18/19 - 2
X-100608319-A-G c.1771T>C p.Y591H Missense 18/19 - 6
X-100608319-A-T c.1771T>A p.Y591N Missense 18/19 - 2
X-100608320-AA-CC c.1769_1770delinsGG p.I590R Missense 18/19 - 1
X-100608320-AA-CT c.1769_1770delinsAG p.I590K Missense 18/19 - 1
X-100608320-AAT-CCA c.1768_1770delinsTGG p.I590W Missense 18/19 - 1
X-100608320-AAT-CTC c.1768_1770delinsGAG p.I590E Missense 18/19 - 1
X-100608320-AAT-TTG c.1768_1770delinsCAA p.I590Q Missense 18/19 - 1
X-100608320-A-C c.1770T>G p.I590M Missense 18/19 - 2
X-100608320-A-T c.1770T>A p.I590= Synonymous 18/19 - 1
X-100608321-A-C c.1769T>G p.I590S Missense 18/19 - 2
X-100608321-A-G c.1769T>C p.I590T Missense 18/19 - 2
X-100608321-A-T c.1769T>A p.I590N Missense 18/19 - 2
X-100608321-AT-CA c.1768_1769delinsTG p.I590C Missense 18/19 - 1
X-100608321-AT-CC c.1768_1769delinsGG p.I590G Missense 18/19 - 1
X-100608321-AT-GC c.1768_1769delinsGC p.I590A Missense 18/19 - 1
X-100608321-AT-GG c.1768_1769delinsCC p.I590P Missense 18/19 - 1
X-100608321-AT-TA c.1768_1769delinsTA p.I590Y Missense 18/19 - 1
X-100608321-AT-TC c.1768_1769delinsGA p.I590D Missense 18/19 - 1
X-100608321-AT-TG c.1768_1769delinsCA p.I590H Missense 18/19 - 1
X-100608322-T-A c.1768A>T p.I590F Missense 18/19 - 9
X-100608322-T-C c.1768A>G p.I590V Missense 18/19 - 2
X-100608322-T-G c.1768A>C p.I590L Missense 18/19 - 2
X-100608323-T-A c.1767A>T p.E589D Missense 18/19 - 6
X-100608323-T-G c.1767A>C p.E589D Missense 18/19 - 5
X-100608323-TTC-AAA c.1765_1767delinsTTT p.E589F Missense 18/19 - 1
X-100608323-TTC-ACA c.1765_1767delinsTGT p.E589C Missense 18/19 - 1
X-100608323-TTC-ATA c.1765_1767delinsTAT p.E589Y Missense 18/19 - 1
X-100608323-TTC-ATG c.1765_1767delinsCAT p.E589H Missense 18/19 - 1
X-100608323-TTC-CAT c.1765_1767delinsATG p.E589M Missense 18/19 - 1
X-100608323-TTC-CCA c.1765_1767delinsTGG p.E589W Missense 18/19 - 1
X-100608323-TTC-GTT c.1765_1767delinsAAC p.E589N Missense 18/19 - 1
X-100608324-T-A c.1766A>T p.E589V Missense 18/19 - 2
X-100608324-T-C c.1766A>G p.E589G Missense 18/19 - 13
X-100608324-TC-AG c.1765_1766delinsCT p.E589L Missense 18/19 - 1
X-100608324-TC-AT c.1765_1766delinsAT p.E589I Missense 18/19 - 1
X-100608324-TC-CT c.1765_1766delinsAG p.E589R Missense 18/19 - 1
X-100608324-TC-GA c.1765_1766inv p.E589S Missense 18/19 - 1
X-100608324-TC-GG c.1765_1766delinsCC p.E589P Missense 18/19 - 1
X-100608324-TC-GT c.1765_1766delinsAC p.E589T Missense 18/19 - 1
X-100608324-T-G c.1766A>C p.E589A Missense 18/19 - 2
X-100608325-C-G c.1765G>C p.E589Q Missense 18/19 - 3
X-100608325-C-T c.1765G>A p.E589K Missense 18/19 - 8
X-100608326-C-A c.1764G>T p.W588C Missense 18/19 - 5
X-100608326-CC-AA c.1763_1764delinsTT p.W588F Missense 18/19 - 1
X-100608326-CCA-ATG c.1762_1764delinsCAT p.W588H Missense 18/19 - 1
X-100608326-CCA-GAT c.1762_1764delinsATC p.W588I Missense 18/19 - 1
X-100608326-CCA-GTC c.1762_1764delinsGAC p.W588D Missense 18/19 - 1
X-100608326-CCA-GTT c.1762_1764delinsAAC p.W588N Missense 18/19 - 1
X-100608326-CC-AT c.1763_1764delinsAT p.W588Y Missense 18/19 - 1
X-100608326-C-G c.1764G>C p.W588C Missense 18/19 - 3
X-100608324-T-TC c.1765dup p.E589Gfs*11 Frameshift 18/19 - 1
X-100608326-C-T c.1764G>A p.W588* Nonsense 18/19 - 2
X-100608327-C-A c.1763G>T p.W588L Missense 18/19 - 2
X-100608327-CA-AC c.1762_1763delinsGT p.W588V Missense 18/19 - 1
X-100608327-CA-AT c.1762_1763delinsAT p.W588M Missense 18/19 - 1
X-100608327-CA-GC c.1762_1763delinsGC p.W588A Missense 18/19 - 1
X-100608327-CA-GG c.1762_1763delinsCC p.W588P Missense 18/19 - 1
X-100608327-CA-GT c.1762_1763delinsAC p.W588T Missense 18/19 - 1
X-100608327-CA-TC c.1762_1763delinsGA p.W588E Missense 18/19 - 1
X-100608327-CA-TG c.1762_1763inv p.W588Q Missense 18/19 - 1
X-100608327-CA-TT c.1762_1763delinsAA p.W588K Missense 18/19 - 1
X-100608327-C-G c.1763G>C p.W588S Missense 18/19 - 2
X-100608327-C-T c.1763G>A p.W588* Nonsense 18/19 - 3
X-100608328-A-C c.1762T>G p.W588G Missense 18/19 - 4
X-100608328-A-G c.1762T>C p.W588R Missense 18/19 - 3
X-100608328-A-T c.1762T>A p.W588R Missense 18/19 - 3
X-100608329-C-A c.1761G>T p.M587I Missense 18/19 - 2
X-100608329-CA-GC c.1760_1761delinsGC p.M587S Missense 18/19 - 1
X-100608329-CA-GT c.1760_1761delinsAC p.M587N Missense 18/19 - 1
X-100608329-CAT-AAA c.1759_1761delinsTTT p.M587F Missense 18/19 - 1
X-100608329-CAT-ACA c.1759_1761delinsTGT p.M587C Missense 18/19 - 1
X-100608329-CAT-ATA c.1759_1761delinsTAT p.M587Y Missense 18/19 - 1
X-100608329-CAT-ATG c.1759_1761inv p.M587H Missense 18/19 - 1
X-100608329-CAT-GTC c.1759_1761delinsGAC p.M587D Missense 18/19 - 1
X-100608329-C-G c.1761G>C p.M587I Missense 18/19 - 2
X-100608329-C-T c.1761G>A p.M587I Missense 18/19 - 2
X-100608330-A-C c.1760T>G p.M587R Missense 18/19 - 2
X-100608330-A-G c.1760T>C p.M587T Missense 18/19 - 3
X-100608330-A-T c.1760T>A p.M587K Missense 18/19 - 3
X-100608330-AT-CA c.1759_1760delinsTG p.M587W Missense 18/19 - 1
X-100608330-AT-CC c.1759_1760delinsGG p.M587G Missense 18/19 - 1
X-100608330-AT-GC c.1759_1760delinsGC p.M587A Missense 18/19 - 1
X-100608330-AT-GG c.1759_1760delinsCC p.M587P Missense 18/19 - 1
X-100608330-AT-TC c.1759_1760delinsGA p.M587E Missense 18/19 - 1
X-100608330-AT-TG c.1759_1760delinsCA p.M587Q Missense 18/19 - 1
X-100608331-T-A c.1759A>T p.M587L Missense 18/19 - 6
X-100608331-T-C c.1759A>G p.M587V Missense 18/19 - 2
X-100608331-T-G c.1759A>C p.M587L Missense 18/19 - 6
X-100608332-C-A c.1758G>T p.L586F Missense 18/19 - 2
X-100608332-CAA-ATG c.1756_1758delinsCAT p.L586H Missense 18/19 - 1
X-100608332-CA-AC c.1757_1758delinsGT p.L586C Missense 18/19 - 1
X-100608332-CAA-GAT c.1756_1758delinsATC p.L586I Missense 18/19 - 1
X-100608332-CAA-GTC c.1756_1758delinsGAC p.L586D Missense 18/19 - 1
X-100608332-CAA-GTT c.1756_1758delinsAAC p.L586N Missense 18/19 - 1
X-100608332-CA-AT c.1757_1758delinsAT p.L586Y Missense 18/19 - 1
X-100608332-C-G c.1758G>C p.L586F Missense 18/19 - 2
X-100608333-AA-CC c.1756_1757delinsGG p.L586G Missense 18/19 - 1
X-100608333-AA-CT c.1756_1757delinsAG p.L586R Missense 18/19 - 1
X-100608333-AA-GC c.1756_1757delinsGC p.L586A Missense 18/19 - 1
X-100608333-AA-GG c.1756_1757delinsCC p.L586P Missense 18/19 - 1
X-100608333-AA-GT c.1756_1757delinsAC p.L586T Missense 18/19 - 1
X-100608333-AA-TC c.1756_1757delinsGA p.L586E Missense 18/19 - 1
X-100608333-AA-TG c.1756_1757delinsCA p.L586Q Missense 18/19 - 2
X-100608333-AA-TT c.1756_1757inv p.L586K Missense 18/19 - 1
X-100608333-A-C c.1757T>G p.L586W Missense 18/19 - 2
X-100608333-A-G c.1757T>C p.L586S Missense 18/19 - 4
X-100608334-A-C c.1756T>G p.L586V Missense 18/19 - 2
X-100608334-A-T c.1756T>A p.L586M Missense 18/19 - 2
X-100608335-AAC-CAT c.1753_1755delinsATG p.V585M Missense 18/19 - 2
X-100608335-AAC-CCA c.1753_1755delinsTGG p.V585W Missense 18/19 - 1
X-100608335-AAC-CTT c.1753_1755delinsAAG p.V585K Missense 18/19 - 1
X-100608335-AA-CT c.1754_1755delinsAG p.V585E Missense 18/19 - 1
X-100608335-AAC-TTG c.1753_1755delinsCAA p.V585Q Missense 18/19 - 1
X-100608332-CA-C c.1757del p.L586* Frameshift 18/19 - 1
X-100608332-C-CA c.1757dup p.L586Ffs*14 Frameshift 18/19 - 1
X-100608336-A-C c.1754T>G p.V585G Missense 18/19 - 3
X-100608336-AC-CA c.1753_1754delinsTG p.V585C Missense 18/19 - 1
X-100608336-AC-CG c.1753_1754delinsCG p.V585R Missense 18/19 - 1
X-100608336-AC-CT c.1753_1754delinsAG p.V585S Missense 18/19 - 1
X-100608336-AC-GG c.1753_1754delinsCC p.V585P Missense 18/19 - 1
X-100608336-AC-GT c.1753_1754inv p.V585T Missense 18/19 - 1
X-100608336-AC-TA c.1753_1754delinsTA p.V585Y Missense 18/19 - 1
X-100608336-AC-TG c.1753_1754delinsCA p.V585H Missense 18/19 - 1
X-100608336-AC-TT c.1753_1754delinsAA p.V585N Missense 18/19 - 1
X-100608336-A-G c.1754T>C p.V585A Missense 18/19 - 3
X-100608336-A-T c.1754T>A p.V585D Missense 18/19 - 2
X-100608337-C-A c.1753G>T p.V585F Missense 18/19 - 3
X-100608337-C-G c.1753G>C p.V585L Missense 18/19 - 2
X-100608337-C-T c.1753G>A p.V585I Missense 18/19 - 5
X-100608338-C-A c.1752G>T p.G584= Synonymous 18/19 - 1
X-100608338-CC-GT c.1751_1752delinsAC p.G584D Missense 18/19 - 2
X-100608338-C-G c.1752G>C p.G584= Synonymous 18/19 - 1
X-100608338-C-T c.1752G>A p.G584= Synonymous 18/19 - 1
X-100608339-C-A c.1751G>T p.G584V Missense 18/19 - 4
X-100608339-C-G c.1751G>C p.G584A Missense 18/19 - 2
X-100608339-C-T c.1751G>A p.G584E Missense 18/19 - 6
X-100608778-T-C c.1750+80A>G - IntronicSNV - 17/18 1
X-100608851-CCACT-C c.1750+4_1750+7del - IntronicDeletion - 17/18 1
X-100608853-C-T c.1750+5G>A - IntronicSNV - 17/18 1
X-100608856-A-G c.1750+2T>C - IntronicSNV - 17/18 1
X-100608857-C-A c.1750+1G>T - IntronicSNV - 17/18 1
X-100608857-C-T c.1750+1G>A - IntronicSNV - 17/18 1
X-100608858-C-A c.1750G>T p.G584W Missense 17/19 - 2
X-100608858-C-G c.1750G>C p.G584R Missense 17/19 - 3
X-100608858-C-T c.1750G>A p.G584R Missense 17/19 - 4
X-100608859-AAA-CAT c.1747_1749delinsATG p.F583M Missense 17/19 - 1
X-100608859-AAA-CTC c.1747_1749delinsGAG p.F583E Missense 17/19 - 1
X-100608859-AAA-CTT c.1747_1749delinsAAG p.F583K Missense 17/19 - 1
X-100608859-AAA-TTG c.1747_1749delinsCAA p.F583Q Missense 17/19 - 1
X-100608859-AA-CC c.1748_1749delinsGG p.F583W Missense 17/19 - 1
X-100608860-AA-CC c.1747_1748delinsGG p.F583G Missense 17/19 - 1
X-100608860-AA-CG c.1747_1748delinsCG p.F583R Missense 17/19 - 1
X-100608860-AA-GC c.1747_1748delinsGC p.F583A Missense 17/19 - 1
X-100608860-AA-GG c.1747_1748delinsCC p.F583P Missense 17/19 - 1
X-100608860-AA-GT c.1747_1748delinsAC p.F583T Missense 17/19 - 1
X-100608860-AA-TC c.1747_1748delinsGA p.F583D Missense 17/19 - 1
X-100608860-AA-TG c.1747_1748delinsCA p.F583H Missense 17/19 - 1
X-100608860-AA-TT c.1747_1748inv p.F583N Missense 17/19 - 1
X-100608860-A-C c.1748T>G p.F583C Missense 17/19 - 3
X-100608860-A-G c.1748T>C p.F583S Missense 17/19 - 5
X-100608860-A-T c.1748T>A p.F583Y Missense 17/19 - 2
X-100608859-A-C c.1749T>G p.F583L Missense 17/19 - 4
X-100608859-A-T c.1749T>A p.F583L Missense 17/19 - 4
X-100608861-A-C c.1747T>G p.F583V Missense 17/19 - 2
X-100608861-A-G c.1747T>C p.F583L Missense 17/19 - 4
X-100608861-A-T c.1747T>A p.F583I Missense 17/19 - 2
X-100608862-AGC-CAT c.1744_1746delinsATG p.A582M Missense 17/19 - 1
X-100608862-AGC-CCA c.1744_1746delinsTGG p.A582W Missense 17/19 - 1
X-100608862-AGC-CTT c.1744_1746delinsAAG p.A582K Missense 17/19 - 1
X-100608862-AG-CT c.1745_1746inv p.A582E Missense 17/19 - 1
X-100608862-AGC-TTG c.1744_1746delinsCAA p.A582Q Missense 17/19 - 1
X-100608863-G-A c.1745C>T p.A582V Missense 17/19 - 6
X-100608863-G-C c.1745C>G p.A582G Missense 17/19 - 2
X-100608863-GC-AA c.1744_1745delinsTT p.A582F Missense 17/19 - 1
X-100608863-GC-AG c.1744_1745delinsCT p.A582L Missense 17/19 - 1
X-100608863-GC-AT c.1744_1745delinsAT p.A582I Missense 17/19 - 1
X-100608863-GC-CA c.1744_1745delinsTG p.A582C Missense 17/19 - 1
X-100608863-GC-CG c.1744_1745delinsCG p.A582R Missense 17/19 - 1
X-100608863-GC-TA c.1744_1745delinsTA p.A582Y Missense 17/19 - 1
X-100608863-GC-TG c.1744_1745delinsCA p.A582H Missense 17/19 - 1
X-100608863-GC-TT c.1744_1745delinsAA p.A582N Missense 17/19 - 1
X-100608863-G-T c.1745C>A p.A582D Missense 17/19 - 4
X-100608864-C-A c.1744G>T p.A582S Missense 17/19 - 2
X-100608864-C-G c.1744G>C p.A582P Missense 17/19 - 3
X-100608864-C-T c.1744G>A p.A582T Missense 17/19 - 2
X-100608865-C-A c.1743G>T p.W581C Missense 17/19 - 3
X-100608865-CC-AA c.1742_1743delinsTT p.W581F Missense 17/19 - 1
X-100608865-CCA-ATG c.1741_1743delinsCAT p.W581H Missense 17/19 - 1
X-100608865-CCA-GAT c.1741_1743delinsATC p.W581I Missense 17/19 - 1
X-100608865-CCA-GTC c.1741_1743delinsGAC p.W581D Missense 17/19 - 1
X-100608865-CCA-GTT c.1741_1743delinsAAC p.W581N Missense 17/19 - 1
X-100608865-CC-AT c.1742_1743delinsAT p.W581Y Missense 17/19 - 1
X-100608865-C-G c.1743G>C p.W581C Missense 17/19 - 4
X-100608863-GC-G c.1744del p.A582Lfs*5 Frameshift 17/19 - 3
X-100608866-C-A c.1742G>T p.W581L Missense 17/19 - 2
X-100608866-CA-AC c.1741_1742delinsGT p.W581V Missense 17/19 - 1
X-100608866-CA-AT c.1741_1742delinsAT p.W581M Missense 17/19 - 1
X-100608866-CA-GC c.1741_1742delinsGC p.W581A Missense 17/19 - 1
X-100608866-CA-GG c.1741_1742delinsCC p.W581P Missense 17/19 - 1
X-100608866-CA-GT c.1741_1742delinsAC p.W581T Missense 17/19 - 1
X-100608866-CA-TC c.1741_1742delinsGA p.W581E Missense 17/19 - 1
X-100608866-CA-TG c.1741_1742inv p.W581Q Missense 17/19 - 1
X-100608866-CA-TT c.1741_1742delinsAA p.W581K Missense 17/19 - 1
X-100608866-C-G c.1742G>C p.W581S Missense 17/19 - 2
X-100608867-A-C c.1741T>G p.W581G Missense 17/19 - 2
X-100608867-A-G c.1741T>C p.W581R Missense 17/19 - 6
X-100608867-A-T c.1741T>A p.W581R Missense 17/19 - 5
X-100608868-AA-CC c.1739_1740delinsGG p.I580R Missense 17/19 - 1
X-100608868-AA-CT c.1739_1740delinsAG p.I580K Missense 17/19 - 1
X-100608868-AAT-CCA c.1738_1740delinsTGG p.I580W Missense 17/19 - 1
X-100608868-AAT-CTC c.1738_1740delinsGAG p.I580E Missense 17/19 - 1
X-100608868-AAT-TTG c.1738_1740delinsCAA p.I580Q Missense 17/19 - 1
X-100608868-A-C c.1740T>G p.I580M Missense 17/19 - 2
X-100608869-A-C c.1739T>G p.I580S Missense 17/19 - 2
X-100608869-A-G c.1739T>C p.I580T Missense 17/19 - 3
X-100608869-A-T c.1739T>A p.I580N Missense 17/19 - 2
X-100608869-AT-CA c.1738_1739delinsTG p.I580C Missense 17/19 - 1
X-100608869-AT-CC c.1738_1739delinsGG p.I580G Missense 17/19 - 1
X-100608869-AT-GC c.1738_1739delinsGC p.I580A Missense 17/19 - 1
X-100608869-AT-GG c.1738_1739delinsCC p.I580P Missense 17/19 - 1
X-100608869-AT-TA c.1738_1739delinsTA p.I580Y Missense 17/19 - 1
X-100608869-AT-TC c.1738_1739delinsGA p.I580D Missense 17/19 - 1
X-100608869-AT-TG c.1738_1739delinsCA p.I580H Missense 17/19 - 1
X-100608870-T-A c.1738A>T p.I580F Missense 17/19 - 2
X-100608870-T-C c.1738A>G p.I580V Missense 17/19 - 2
X-100608870-T-G c.1738A>C p.I580L Missense 17/19 - 3
X-100608871-G-C c.1737C>G p.D579E Missense 17/19 - 2
X-100608871-G-T c.1737C>A p.D579E Missense 17/19 - 2
X-100608871-GTC-CAT c.1735_1737delinsATG p.D579M Missense 17/19 - 1
X-100608871-GTC-CCA c.1735_1737delinsTGG p.D579W Missense 17/19 - 1
X-100608871-GTC-CTT c.1735_1737delinsAAG p.D579K Missense 17/19 - 1
X-100608871-GTC-TTG c.1735_1737delinsCAA p.D579Q Missense 17/19 - 1
X-100608872-T-A c.1736A>T p.D579V Missense 17/19 - 3
X-100608872-T-C c.1736A>G p.D579G Missense 17/19 - 2
X-100608872-TC-AA c.1735_1736delinsTT p.D579F Missense 17/19 - 1
X-100608872-TC-AG c.1735_1736delinsCT p.D579L Missense 17/19 - 1
X-100608872-TC-AT c.1735_1736delinsAT p.D579I Missense 17/19 - 1
X-100608872-TC-CA c.1735_1736delinsTG p.D579C Missense 17/19 - 1
X-100608872-TC-CG c.1735_1736delinsCG p.D579R Missense 17/19 - 1
X-100608872-TC-CT c.1735_1736delinsAG p.D579S Missense 17/19 - 1
X-100608872-TC-GG c.1735_1736delinsCC p.D579P Missense 17/19 - 1
X-100608872-TC-GT c.1735_1736delinsAC p.D579T Missense 17/19 - 1
X-100608872-T-G c.1736A>C p.D579A Missense 17/19 - 2
X-100608873-C-A c.1735G>T p.D579Y Missense 17/19 - 3
X-100608873-C-G c.1735G>C p.D579H Missense 17/19 - 4
X-100608873-C-T c.1735G>A p.D579N Missense 17/19 - 3
X-100608874-AGA-CAT c.1732_1734delinsATG p.S578M Missense 17/19 - 1
X-100608874-AGA-CTC c.1732_1734delinsGAG p.S578E Missense 17/19 - 1
X-100608874-AGA-CTT c.1732_1734delinsAAG p.S578K Missense 17/19 - 1
X-100608874-AGA-TTG c.1732_1734delinsCAA p.S578Q Missense 17/19 - 1
X-100608874-AG-CC c.1733_1734delinsGG p.S578W Missense 17/19 - 1
X-100608875-G-A c.1733C>T p.S578F Missense 17/19 - 4
X-100608875-GA-AC c.1732_1733delinsGT p.S578V Missense 17/19 - 1
X-100608875-GA-AG c.1732_1733delinsCT p.S578L Missense 17/19 - 1
X-100608875-GA-AT c.1732_1733delinsAT p.S578I Missense 17/19 - 1
X-100608875-GA-CC c.1732_1733delinsGG p.S578G Missense 17/19 - 1
X-100608875-GA-CG c.1732_1733delinsCG p.S578R Missense 17/19 - 1
X-100608875-GA-TC c.1732_1733inv p.S578D Missense 17/19 - 1
X-100608875-GA-TG c.1732_1733delinsCA p.S578H Missense 17/19 - 1
X-100608875-GA-TT c.1732_1733delinsAA p.S578N Missense 17/19 - 1
X-100608875-G-C c.1733C>G p.S578C Missense 17/19 - 2
X-100608875-G-T c.1733C>A p.S578Y Missense 17/19 - 7
X-100608876-A-C c.1732T>G p.S578A Missense 17/19 - 2
X-100608876-A-G c.1732T>C p.S578P Missense 17/19 - 3
X-100608876-A-T c.1732T>A p.S578T Missense 17/19 - 2
X-100608877-T-A c.1731A>T p.K577N Missense 17/19 - 4
X-100608877-T-G c.1731A>C p.K577N Missense 17/19 - 4
X-100608877-TT-CA c.1730_1731delinsTG p.K577M Missense 17/19 - 1
X-100608877-TT-GC c.1730_1731delinsGC p.K577S Missense 17/19 - 1
X-100608877-TTT-AAA c.1729_1731inv p.K577F Missense 17/19 - 1
X-100608877-TTT-ACA c.1729_1731delinsTGT p.K577C Missense 17/19 - 1
X-100608877-TTT-ATA c.1729_1731delinsTAT p.K577Y Missense 17/19 - 1
X-100608877-TTT-ATG c.1729_1731delinsCAT p.K577H Missense 17/19 - 1
X-100608877-TTT-CCA c.1729_1731delinsTGG p.K577W Missense 17/19 - 1
X-100608877-TTT-GTC c.1729_1731delinsGAC p.K577D Missense 17/19 - 1
X-100608878-T-A c.1730A>T p.K577I Missense 17/19 - 3
X-100608878-T-C c.1730A>G p.K577R Missense 17/19 - 2
X-100608878-T-G c.1730A>C p.K577T Missense 17/19 - 2
X-100608878-TT-AC c.1729_1730delinsGT p.K577V Missense 17/19 - 1
X-100608878-TT-AG c.1729_1730delinsCT p.K577L Missense 17/19 - 1
X-100608878-TT-CC c.1729_1730delinsGG p.K577G Missense 17/19 - 1
X-100608878-TT-GC c.1729_1730delinsGC p.K577A Missense 17/19 - 1
X-100608878-TT-GG c.1729_1730delinsCC p.K577P Missense 17/19 - 1
X-100608876-AT-A c.1731del p.K577Nfs*10 Frameshift 17/19 - 1
X-100608879-T-C c.1729A>G p.K577E Missense 17/19 - 2
X-100608879-T-G c.1729A>C p.K577Q Missense 17/19 - 2
X-100608880-G-C c.1728C>G p.S576R Missense 17/19 - 2
X-100608880-GC-CA c.1727_1728delinsTG p.S576M Missense 17/19 - 1
X-100608880-GC-CT c.1727_1728delinsAG p.S576K Missense 17/19 - 1
X-100608880-GCT-CCA c.1726_1728delinsTGG p.S576W Missense 17/19 - 1
X-100608880-GCT-CTC c.1726_1728delinsGAG p.S576E Missense 17/19 - 1
X-100608880-GCT-TTG c.1726_1728delinsCAA p.S576Q Missense 17/19 - 1
X-100608880-G-T c.1728C>A p.S576R Missense 17/19 - 3
X-100608882-T-G c.1726A>C p.S576R Missense 17/19 - 2
X-100608881-C-A c.1727G>T p.S576I Missense 17/19 - 2
X-100608881-C-G c.1727G>C p.S576T Missense 17/19 - 2
X-100608881-C-T c.1727G>A p.S576N Missense 17/19 - 2
X-100608881-CT-AA c.1726_1727delinsTT p.S576F Missense 17/19 - 1
X-100608881-CT-AC c.1726_1727delinsGT p.S576V Missense 17/19 - 1
X-100608881-CT-AG c.1726_1727inv p.S576L Missense 17/19 - 2
X-100608881-CT-GC c.1726_1727delinsGC p.S576A Missense 17/19 - 1
X-100608881-CT-GG c.1726_1727delinsCC p.S576P Missense 17/19 - 1
X-100608881-CT-TA c.1726_1727delinsTA p.S576Y Missense 17/19 - 1
X-100608881-CT-TC c.1726_1727delinsGA p.S576D Missense 17/19 - 1
X-100608881-CT-TG c.1726_1727delinsCA p.S576H Missense 17/19 - 1
X-100608882-T-A c.1726A>T p.S576C Missense 17/19 - 3
X-100608882-T-C c.1726A>G p.S576G Missense 17/19 - 2
X-100608883-G-C c.1725C>G p.S575R Missense 17/19 - 3
X-100608883-GC-CA c.1724_1725delinsTG p.S575M Missense 17/19 - 1
X-100608883-GC-CT c.1724_1725delinsAG p.S575K Missense 17/19 - 1
X-100608883-GCT-CCA c.1723_1725delinsTGG p.S575W Missense 17/19 - 1
X-100608883-GCT-CTC c.1723_1725delinsGAG p.S575E Missense 17/19 - 1
X-100608883-GCT-TTG c.1723_1725delinsCAA p.S575Q Missense 17/19 - 1
X-100608883-G-T c.1725C>A p.S575R Missense 17/19 - 3
X-100608885-T-G c.1723A>C p.S575R Missense 17/19 - 3
X-100608884-C-A c.1724G>T p.S575I Missense 17/19 - 3
X-100608884-C-G c.1724G>C p.S575T Missense 17/19 - 2
X-100608884-C-T c.1724G>A p.S575N Missense 17/19 - 2
X-100608884-CT-AA c.1723_1724delinsTT p.S575F Missense 17/19 - 1
X-100608884-CT-AC c.1723_1724delinsGT p.S575V Missense 17/19 - 1
X-100608884-CT-AG c.1723_1724inv p.S575L Missense 17/19 - 1
X-100608884-CT-GC c.1723_1724delinsGC p.S575A Missense 17/19 - 1
X-100608884-CT-GG c.1723_1724delinsCC p.S575P Missense 17/19 - 1
X-100608884-CT-TA c.1723_1724delinsTA p.S575Y Missense 17/19 - 1
X-100608884-CT-TC c.1723_1724delinsGA p.S575D Missense 17/19 - 1
X-100608884-CT-TG c.1723_1724delinsCA p.S575H Missense 17/19 - 1
X-100608885-T-A c.1723A>T p.S575C Missense 17/19 - 3
X-100608885-T-C c.1723A>G p.S575G Missense 17/19 - 2
X-100608886-GAA-CAT c.1720_1722delinsATG p.F574M Missense 17/19 - 1
X-100608886-GAA-CTC c.1720_1722delinsGAG p.F574E Missense 17/19 - 1
X-100608886-GAA-CTT c.1720_1722delinsAAG p.F574K Missense 17/19 - 1
X-100608886-GAA-TTG c.1720_1722delinsCAA p.F574Q Missense 17/19 - 1
X-100608886-GA-CC c.1721_1722delinsGG p.F574W Missense 17/19 - 1
X-100608886-TG-T c.1722del p.F574Lfs*13 Frameshift 17/19 - 1
X-100608887-AA-CC c.1720_1721delinsGG p.F574G Missense 17/19 - 1
X-100608887-AA-CG c.1720_1721delinsCG p.F574R Missense 17/19 - 1
X-100608887-AA-GC c.1720_1721delinsGC p.F574A Missense 17/19 - 1
X-100608887-AA-GG c.1720_1721delinsCC p.F574P Missense 17/19 - 1
X-100608887-AA-GT c.1720_1721delinsAC p.F574T Missense 17/19 - 1
X-100608887-AA-TC c.1720_1721delinsGA p.F574D Missense 17/19 - 1
X-100608887-AA-TG c.1720_1721delinsCA p.F574H Missense 17/19 - 1
X-100608887-AA-TT c.1720_1721inv p.F574N Missense 17/19 - 1
X-100608887-A-C c.1721T>G p.F574C Missense 17/19 - 3
X-100608887-A-G c.1721T>C p.F574S Missense 17/19 - 2
X-100608887-A-T c.1721T>A p.F574Y Missense 17/19 - 2
X-100608886-G-C c.1722C>G p.F574L Missense 17/19 - 2
X-100608886-G-T c.1722C>A p.F574L Missense 17/19 - 2
X-100608888-A-C c.1720T>G p.F574V Missense 17/19 - 2
X-100608888-A-G c.1720T>C p.F574L Missense 17/19 - 2
X-100608888-A-T c.1720T>A p.F574I Missense 17/19 - 2
X-100608889-C-A c.1719G>T p.K573N Missense 17/19 - 2
X-100608889-C-G c.1719G>C p.K573N Missense 17/19 - 2
X-100608889-CT-GA c.1718_1719delinsTC p.K573I Missense 17/19 - 1
X-100608889-CT-GC c.1718_1719delinsGC p.K573S Missense 17/19 - 1
X-100608889-CTT-AAA c.1717_1719delinsTTT p.K573F Missense 17/19 - 1
X-100608889-CTT-ACA c.1717_1719delinsTGT p.K573C Missense 17/19 - 1
X-100608889-CTT-ATA c.1717_1719delinsTAT p.K573Y Missense 17/19 - 1
X-100608889-CTT-ATG c.1717_1719delinsCAT p.K573H Missense 17/19 - 1
X-100608889-CTT-GTC c.1717_1719delinsGAC p.K573D Missense 17/19 - 1
X-100608890-T-A c.1718A>T p.K573M Missense 17/19 - 3
X-100608890-T-C c.1718A>G p.K573R Missense 17/19 - 2
X-100608890-T-G c.1718A>C p.K573T Missense 17/19 - 2
X-100608890-TT-AC c.1717_1718delinsGT p.K573V Missense 17/19 - 1
X-100608890-TT-AG c.1717_1718delinsCT p.K573L Missense 17/19 - 1
X-100608890-TT-CA c.1717_1718delinsTG p.K573W Missense 17/19 - 1
X-100608890-TT-CC c.1717_1718delinsGG p.K573G Missense 17/19 - 1
X-100608890-TT-GC c.1717_1718delinsGC p.K573A Missense 17/19 - 1
X-100608890-TT-GG c.1717_1718delinsCC p.K573P Missense 17/19 - 1
X-100608891-T-C c.1717A>G p.K573E Missense 17/19 - 2
X-100608891-T-G c.1717A>C p.K573Q Missense 17/19 - 2
X-100608892-G-C c.1716C>G p.S572R Missense 17/19 - 2
X-100608892-GC-CA c.1715_1716delinsTG p.S572M Missense 17/19 - 1
X-100608892-GC-CT c.1715_1716delinsAG p.S572K Missense 17/19 - 1
X-100608892-GCT-CCA c.1714_1716delinsTGG p.S572W Missense 17/19 - 1
X-100608892-GCT-CTC c.1714_1716delinsGAG p.S572E Missense 17/19 - 1
X-100608892-GCT-TTG c.1714_1716delinsCAA p.S572Q Missense 17/19 - 1
X-100608892-G-T c.1716C>A p.S572R Missense 17/19 - 3
X-100608894-T-G c.1714A>C p.S572R Missense 17/19 - 2
X-100608893-C-A c.1715G>T p.S572I Missense 17/19 - 2
X-100608893-C-G c.1715G>C p.S572T Missense 17/19 - 2
X-100608893-C-T c.1715G>A p.S572N Missense 17/19 - 1
X-100608893-CT-AA c.1714_1715delinsTT p.S572F Missense 17/19 - 2
X-100608893-CT-AC c.1714_1715delinsGT p.S572V Missense 17/19 - 1
X-100608893-CT-AG c.1714_1715inv p.S572L Missense 17/19 - 1
X-100608893-CT-GC c.1714_1715delinsGC p.S572A Missense 17/19 - 1
X-100608893-CT-GG c.1714_1715delinsCC p.S572P Missense 17/19 - 1
X-100608893-CT-TA c.1714_1715delinsTA p.S572Y Missense 17/19 - 1
X-100608893-CT-TC c.1714_1715delinsGA p.S572D Missense 17/19 - 1
X-100608893-CT-TG c.1714_1715delinsCA p.S572H Missense 17/19 - 1
X-100608894-T-A c.1714A>T p.S572C Missense 17/19 - 2
X-100608894-T-C c.1714A>G p.S572G Missense 17/19 - 2
X-100608895-A-C c.1713T>G p.Y571* Nonsense 17/19 - 1
X-100608895-A-T c.1713T>A p.Y571* Nonsense 17/19 - 1
X-100608895-ATA-CAT c.1711_1713delinsATG p.Y571M Missense 17/19 - 1
X-100608895-ATA-CTC c.1711_1713delinsGAG p.Y571E Missense 17/19 - 1
X-100608895-ATA-CTT c.1711_1713delinsAAG p.Y571K Missense 17/19 - 1
X-100608895-ATA-TTG c.1711_1713delinsCAA p.Y571Q Missense 17/19 - 1
X-100608895-AT-CC c.1712_1713delinsGG p.Y571W Missense 17/19 - 1
X-100608896-T-A c.1712A>T p.Y571F Missense 17/19 - 2
X-100608896-TA-AC c.1711_1712delinsGT p.Y571V Missense 17/19 - 1
X-100608896-TA-AG c.1711_1712delinsCT p.Y571L Missense 17/19 - 1
X-100608896-TA-AT c.1711_1712delinsAT p.Y571I Missense 17/19 - 1
X-100608896-TA-CC c.1711_1712delinsGG p.Y571G Missense 17/19 - 1
X-100608896-TA-CG c.1711_1712delinsCG p.Y571R Missense 17/19 - 1
X-100608896-TA-GC c.1711_1712delinsGC p.Y571A Missense 17/19 - 1
X-100608896-TA-GG c.1711_1712delinsCC p.Y571P Missense 17/19 - 1
X-100608896-TA-GT c.1711_1712delinsAC p.Y571T Missense 17/19 - 1
X-100608896-T-C c.1712A>G p.Y571C Missense 17/19 - 2
X-100608896-T-G c.1712A>C p.Y571S Missense 17/19 - 2
X-100608897-A-C c.1711T>G p.Y571D Missense 17/19 - 2
X-100608897-A-G c.1711T>C p.Y571H Missense 17/19 - 2
X-100608897-A-T c.1711T>A p.Y571N Missense 17/19 - 2
X-100608898-C-A c.1710G>T p.M570I Missense 17/19 - 2
X-100608898-CA-GC c.1709_1710delinsGC p.M570S Missense 17/19 - 1
X-100608898-CA-GT c.1709_1710delinsAC p.M570N Missense 17/19 - 1
X-100608898-CAT-AAA c.1708_1710delinsTTT p.M570F Missense 17/19 - 1
X-100608898-CAT-ACA c.1708_1710delinsTGT p.M570C Missense 17/19 - 1
X-100608898-CAT-ATA c.1708_1710delinsTAT p.M570Y Missense 17/19 - 1
X-100608898-CAT-ATG c.1708_1710inv p.M570H Missense 17/19 - 1
X-100608898-CAT-GTC c.1708_1710delinsGAC p.M570D Missense 17/19 - 1
X-100608898-C-G c.1710G>C p.M570I Missense 17/19 - 2
X-100608898-C-T c.1710G>A p.M570I Missense 17/19 - 2
X-100608899-A-C c.1709T>G p.M570R Missense 17/19 - 2
X-100608899-A-G c.1709T>C p.M570T Missense 17/19 - 2
X-100608899-A-T c.1709T>A p.M570K Missense 17/19 - 2
X-100608899-AT-CA c.1708_1709delinsTG p.M570W Missense 17/19 - 1
X-100608899-AT-CC c.1708_1709delinsGG p.M570G Missense 17/19 - 1
X-100608899-AT-GC c.1708_1709delinsGC p.M570A Missense 17/19 - 1
X-100608899-AT-GG c.1708_1709delinsCC p.M570P Missense 17/19 - 1
X-100608899-AT-TC c.1708_1709delinsGA p.M570E Missense 17/19 - 1
X-100608899-AT-TG c.1708_1709delinsCA p.M570Q Missense 17/19 - 1
X-100608900-T-A c.1708A>T p.M570L Missense 17/19 - 3
X-100608900-T-C c.1708A>G p.M570V Missense 17/19 - 2
X-100608900-T-G c.1708A>C p.M570L Missense 17/19 - 3
X-100608901-CA-AT c.1706_1707delinsAT p.L569H Missense 17/19 - 1
X-100608901-CAG-AAA c.1705_1707delinsTTT p.L569F Missense 17/19 - 1
X-100608901-CAG-ACA c.1705_1707delinsTGT p.L569C Missense 17/19 - 1
X-100608901-CAG-ATA c.1705_1707delinsTAT p.L569Y Missense 17/19 - 1
X-100608901-CAG-GAT c.1705_1707delinsATC p.L569I Missense 17/19 - 1
X-100608901-CAG-GTC c.1705_1707delinsGAC p.L569D Missense 17/19 - 1
X-100608901-CAG-GTT c.1705_1707delinsAAC p.L569N Missense 17/19 - 1
X-100608902-A-C c.1706T>G p.L569R Missense 17/19 - 2
X-100608902-A-G c.1706T>C p.L569P Missense 17/19 - 6
X-100608902-AG-CA c.1705_1706delinsTG p.L569W Missense 17/19 - 1
X-100608902-AG-CC c.1705_1706delinsGG p.L569G Missense 17/19 - 1
X-100608902-AG-GA c.1705_1706delinsTC p.L569S Missense 17/19 - 1
X-100608902-AG-GC c.1705_1706delinsGC p.L569A Missense 17/19 - 2
X-100608902-AG-GT c.1705_1706delinsAC p.L569T Missense 17/19 - 1
X-100608902-AG-TC c.1705_1706delinsGA p.L569E Missense 17/19 - 1
X-100608902-AG-TT c.1705_1706delinsAA p.L569K Missense 17/19 - 1
X-100608902-A-T c.1706T>A p.L569Q Missense 17/19 - 2
X-100608903-G-C c.1705C>G p.L569V Missense 17/19 - 2
X-100608903-G-T c.1705C>A p.L569M Missense 17/19 - 2
X-100608904-GAC-CAT c.1702_1704delinsATG p.V568M Missense 17/19 - 2
X-100608904-GAC-CCA c.1702_1704delinsTGG p.V568W Missense 17/19 - 1
X-100608904-GAC-CTT c.1702_1704delinsAAG p.V568K Missense 17/19 - 1
X-100608904-GA-CT c.1703_1704delinsAG p.V568E Missense 17/19 - 1
X-100608904-GAC-TTG c.1702_1704delinsCAA p.V568Q Missense 17/19 - 1
X-100608905-A-C c.1703T>G p.V568G Missense 17/19 - 2
X-100608905-AC-CA c.1702_1703delinsTG p.V568C Missense 17/19 - 1
X-100608905-AC-CG c.1702_1703delinsCG p.V568R Missense 17/19 - 1
X-100608905-AC-CT c.1702_1703delinsAG p.V568S Missense 17/19 - 1
X-100608905-AC-GG c.1702_1703delinsCC p.V568P Missense 17/19 - 1
X-100608905-AC-GT c.1702_1703inv p.V568T Missense 17/19 - 1
X-100608905-AC-TA c.1702_1703delinsTA p.V568Y Missense 17/19 - 1
X-100608905-AC-TG c.1702_1703delinsCA p.V568H Missense 17/19 - 1
X-100608905-AC-TT c.1702_1703delinsAA p.V568N Missense 17/19 - 1
X-100608905-A-G c.1703T>C p.V568A Missense 17/19 - 2
X-100608905-A-T c.1703T>A p.V568D Missense 17/19 - 4
X-100608906-C-A c.1702G>T p.V568F Missense 17/19 - 3
X-100608906-C-G c.1702G>C p.V568L Missense 17/19 - 2
X-100608906-C-T c.1702G>A p.V568I Missense 17/19 - 3
X-100608907-T-A c.1701A>T p.E567D Missense 17/19 - 4
X-100608907-T-G c.1701A>C p.E567D Missense 17/19 - 4
X-100608907-TTC-AAA c.1699_1701delinsTTT p.E567F Missense 17/19 - 1
X-100608907-TTC-ACA c.1699_1701delinsTGT p.E567C Missense 17/19 - 1
X-100608907-TTC-ATA c.1699_1701delinsTAT p.E567Y Missense 17/19 - 1
X-100608907-TTC-ATG c.1699_1701delinsCAT p.E567H Missense 17/19 - 1
X-100608907-TTC-CAT c.1699_1701delinsATG p.E567M Missense 17/19 - 1
X-100608907-TTC-CCA c.1699_1701delinsTGG p.E567W Missense 17/19 - 1
X-100608907-TTC-GTT c.1699_1701delinsAAC p.E567N Missense 17/19 - 1
X-100608906-CT-C c.1701del p.V568Sfs*2 Frameshift 17/19 - 1
X-100608908-T-A c.1700A>T p.E567V Missense 17/19 - 2
X-100608908-T-C c.1700A>G p.E567G Missense 17/19 - 3
X-100608908-TC-AG c.1699_1700delinsCT p.E567L Missense 17/19 - 1
X-100608908-TC-AT c.1699_1700delinsAT p.E567I Missense 17/19 - 1
X-100608908-TC-CT c.1699_1700delinsAG p.E567R Missense 17/19 - 1
X-100608908-TC-GA c.1699_1700inv p.E567S Missense 17/19 - 1
X-100608908-TC-GG c.1699_1700delinsCC p.E567P Missense 17/19 - 1
X-100608908-TC-GT c.1699_1700delinsAC p.E567T Missense 17/19 - 1
X-100608908-T-G c.1700A>C p.E567A Missense 17/19 - 3
X-100608909-C-G c.1699G>C p.E567Q Missense 17/19 - 4
X-100608909-C-T c.1699G>A p.E567K Missense 17/19 - 8
X-100608910-C-A c.1698G>T p.P566= Synonymous 17/19 - 1
X-100608910-C-G c.1698G>C p.P566= Synonymous 17/19 - 1
X-100608910-CG-AT c.1697_1698delinsAT p.P566H Missense 17/19 - 1
X-100608910-CGG-AAA c.1696_1698delinsTTT p.P566F Missense 17/19 - 1
X-100608910-CGG-ACA c.1696_1698delinsTGT p.P566C Missense 17/19 - 1
X-100608910-CGG-ATA c.1696_1698delinsTAT p.P566Y Missense 17/19 - 1
X-100608910-CGG-GAT c.1696_1698delinsATC p.P566I Missense 17/19 - 1
X-100608910-CGG-GTC c.1696_1698delinsGAC p.P566D Missense 17/19 - 1
X-100608910-CGG-GTT c.1696_1698delinsAAC p.P566N Missense 17/19 - 1
X-100608910-C-T c.1698G>A p.P566= Synonymous 17/19 - 2
X-100608911-G-A c.1697C>T p.P566L Missense 17/19 - 9
X-100608911-G-C c.1697C>G p.P566R Missense 17/19 - 5
X-100608911-GG-AC c.1696_1697delinsGT p.P566V Missense 17/19 - 1
X-100608911-GG-AT c.1696_1697delinsAT p.P566M Missense 17/19 - 1
X-100608911-GG-CA c.1696_1697delinsTG p.P566W Missense 17/19 - 1
X-100608911-GG-CC c.1696_1697inv p.P566G Missense 17/19 - 1
X-100608911-GG-TC c.1696_1697delinsGA p.P566E Missense 17/19 - 1
X-100608911-GG-TT c.1696_1697delinsAA p.P566K Missense 17/19 - 1
X-100608911-G-T c.1697C>A p.P566Q Missense 17/19 - 3
X-100608912-G-A c.1696C>T p.P566S Missense 17/19 - 7
X-100608912-G-C c.1696C>G p.P566A Missense 17/19 - 3
X-100608912-GGTGGGGACCAC-G c.1686_1696del p.W563Gfs*6 Frameshift 17/19 - 1
X-100608912-G-T c.1696C>A p.P566T Missense 17/19 - 2
X-100608913-TG-AT c.1694_1695delinsAT p.P565H Missense 17/19 - 1
X-100608913-TGG-AAA c.1693_1695delinsTTT p.P565F Missense 17/19 - 1
X-100608913-TGG-ACA c.1693_1695delinsTGT p.P565C Missense 17/19 - 1
X-100608913-TGG-ATA c.1693_1695delinsTAT p.P565Y Missense 17/19 - 1
X-100608913-TGG-CAT c.1693_1695delinsATG p.P565M Missense 17/19 - 1
X-100608913-TGG-CCA c.1693_1695inv p.P565W Missense 17/19 - 1
X-100608913-TGG-GTC c.1693_1695delinsGAC p.P565D Missense 17/19 - 1
X-100608913-TGG-GTT c.1693_1695delinsAAC p.P565N Missense 17/19 - 1
X-100608914-G-A c.1694C>T p.P565L Missense 17/19 - 7
X-100608914-G-C c.1694C>G p.P565R Missense 17/19 - 2
X-100608914-GG-AC c.1693_1694delinsGT p.P565V Missense 17/19 - 1
X-100608914-GG-AT c.1693_1694delinsAT p.P565I Missense 17/19 - 1
X-100608914-GG-CC c.1693_1694inv p.P565G Missense 17/19 - 1
X-100608914-GG-TC c.1693_1694delinsGA p.P565E Missense 17/19 - 1
X-100608914-GG-TT c.1693_1694delinsAA p.P565K Missense 17/19 - 1
X-100608914-G-T c.1694C>A p.P565Q Missense 17/19 - 2
X-100608915-G-A c.1693C>T p.P565S Missense 17/19 - 3
X-100608915-G-C c.1693C>G p.P565A Missense 17/19 - 2
X-100608915-G-T c.1693C>A p.P565T Missense 17/19 - 3
X-100608916-G-C c.1692C>G p.S564= Synonymous 17/19 - 1
X-100608916-GGA-CAT c.1690_1692delinsATG p.S564M Missense 17/19 - 1
X-100608916-GGA-CTC c.1690_1692delinsGAG p.S564E Missense 17/19 - 1
X-100608916-GGA-CTT c.1690_1692delinsAAG p.S564K Missense 17/19 - 1
X-100608916-GGA-TTG c.1690_1692delinsCAA p.S564Q Missense 17/19 - 1
X-100608916-GG-CC c.1691_1692inv p.S564W Missense 17/19 - 1
X-100608917-G-A c.1691C>T p.S564F Missense 17/19 - 3
X-100608917-GA-AC c.1690_1691delinsGT p.S564V Missense 17/19 - 1
X-100608917-GA-AG c.1690_1691delinsCT p.S564L Missense 17/19 - 2
X-100608917-GA-AT c.1690_1691delinsAT p.S564I Missense 17/19 - 1
X-100608917-GA-CC c.1690_1691delinsGG p.S564G Missense 17/19 - 1
X-100608917-GA-CG c.1690_1691delinsCG p.S564R Missense 17/19 - 1
X-100608917-GA-TC c.1690_1691inv p.S564D Missense 17/19 - 1
X-100608917-GA-TG c.1690_1691delinsCA p.S564H Missense 17/19 - 1
X-100608917-GA-TT c.1690_1691delinsAA p.S564N Missense 17/19 - 1
X-100608917-G-C c.1691C>G p.S564C Missense 17/19 - 3
X-100608917-G-T c.1691C>A p.S564Y Missense 17/19 - 2
X-100608918-A-C c.1690T>G p.S564A Missense 17/19 - 4
X-100608918-A-G c.1690T>C p.S564P Missense 17/19 - 3
X-100608918-A-T c.1690T>A p.S564T Missense 17/19 - 2
X-100608919-C-A c.1689G>T p.W563C Missense 17/19 - 3
X-100608919-CC-AA c.1688_1689delinsTT p.W563F Missense 17/19 - 1
X-100608919-CCA-ATG c.1687_1689delinsCAT p.W563H Missense 17/19 - 1
X-100608919-CCA-GAT c.1687_1689delinsATC p.W563I Missense 17/19 - 1
X-100608919-CCA-GTC c.1687_1689delinsGAC p.W563D Missense 17/19 - 1
X-100608919-CCA-GTT c.1687_1689delinsAAC p.W563N Missense 17/19 - 1
X-100608919-CC-AT c.1688_1689delinsAT p.W563Y Missense 17/19 - 1
X-100608919-C-G c.1689G>C p.W563C Missense 17/19 - 2
X-100608920-C-A c.1688G>T p.W563L Missense 17/19 - 5
X-100608920-CA-AC c.1687_1688delinsGT p.W563V Missense 17/19 - 1
X-100608920-CA-AT c.1687_1688delinsAT p.W563M Missense 17/19 - 1
X-100608920-CA-GC c.1687_1688delinsGC p.W563A Missense 17/19 - 1
X-100608920-CA-GG c.1687_1688delinsCC p.W563P Missense 17/19 - 1
X-100608920-CA-GT c.1687_1688delinsAC p.W563T Missense 17/19 - 1
X-100608920-CA-TC c.1687_1688delinsGA p.W563E Missense 17/19 - 1
X-100608920-CA-TG c.1687_1688inv p.W563Q Missense 17/19 - 1
X-100608920-CA-TT c.1687_1688delinsAA p.W563K Missense 17/19 - 1
X-100608920-C-G c.1688G>C p.W563S Missense 17/19 - 2
X-100608920-C-T c.1688G>A p.W563* Nonsense 17/19 - 1
X-100608921-A-C c.1687T>G p.W563G Missense 17/19 - 2
X-100608921-A-G c.1687T>C p.W563R Missense 17/19 - 3
X-100608921-A-T c.1687T>A p.W563R Missense 17/19 - 3
X-100608922-CC-AT c.1685_1686delinsAT p.R562H Missense 17/19 - 2
X-100608922-CCG-AAA c.1684_1686delinsTTT p.R562F Missense 17/19 - 1
X-100608922-CCG-ACA c.1684_1686delinsTGT p.R562C Missense 17/19 - 1
X-100608922-CCG-ATA c.1684_1686delinsTAT p.R562Y Missense 17/19 - 1
X-100608922-CCG-GAT c.1684_1686delinsATC p.R562I Missense 17/19 - 1
X-100608922-CCG-GCT c.1684_1686delinsAGC p.R562S Missense 17/19 - 1
X-100608922-CCG-GTC c.1684_1686delinsGAC p.R562D Missense 17/19 - 1
X-100608922-CCG-GTT c.1684_1686delinsAAC p.R562N Missense 17/19 - 1
X-100608923-C-A c.1685G>T p.R562L Missense 17/19 - 4
X-100608923-C-G c.1685G>C p.R562P Missense 17/19 - 8
X-100608923-CG-A c.1684_1685delinsT p.R562Cfs*8 Frameshift 17/19 - 1
X-100608923-CG-AC c.1684_1685delinsGT p.R562V Missense 17/19 - 1
X-100608923-CG-AT c.1684_1685delinsAT p.R562M Missense 17/19 - 1
X-100608923-CG-GC c.1684_1685delinsGC p.R562A Missense 17/19 - 1
X-100608923-CG-GT c.1684_1685delinsAC p.R562T Missense 17/19 - 2
X-100608923-CG-TA c.1684_1685delinsTA p.R562* Nonsense 17/19 - 1
X-100608923-CG-TC c.1684_1685delinsGA p.R562E Missense 17/19 - 2
X-100608923-CG-TT c.1684_1685delinsAA p.R562K Missense 17/19 - 2
X-100608923-C-T c.1685G>A p.R562Q Missense 17/19 - 6
X-100608924-G-A c.1684C>T p.R562W Missense 17/19 - 21
X-100608924-G-C c.1684C>G p.R562G Missense 17/19 - 3
X-100608925-GAC-CAT c.1681_1683delinsATG p.V561M Missense 17/19 - 4
X-100608925-GAC-CCA c.1681_1683delinsTGG p.V561W Missense 17/19 - 1
X-100608925-GAC-CTT c.1681_1683delinsAAG p.V561K Missense 17/19 - 1
X-100608925-GA-CT c.1682_1683delinsAG p.V561E Missense 17/19 - 1
X-100608925-GAC-TTG c.1681_1683delinsCAA p.V561Q Missense 17/19 - 1
X-100608926-A-C c.1682T>G p.V561G Missense 17/19 - 2
X-100608926-AC-CA c.1681_1682delinsTG p.V561C Missense 17/19 - 1
X-100608926-AC-CG c.1681_1682delinsCG p.V561R Missense 17/19 - 1
X-100608926-AC-CT c.1681_1682delinsAG p.V561S Missense 17/19 - 1
X-100608926-AC-GG c.1681_1682delinsCC p.V561P Missense 17/19 - 1
X-100608926-AC-GT c.1681_1682inv p.V561T Missense 17/19 - 1
X-100608926-AC-TA c.1681_1682delinsTA p.V561Y Missense 17/19 - 1
X-100608926-AC-TG c.1681_1682delinsCA p.V561H Missense 17/19 - 1
X-100608926-AC-TT c.1681_1682delinsAA p.V561N Missense 17/19 - 1
X-100608926-A-G c.1682T>C p.V561A Missense 17/19 - 2
X-100608926-A-T c.1682T>A p.V561D Missense 17/19 - 7
X-100608927-C-A c.1681G>T p.V561F Missense 17/19 - 2
X-100608927-C-G c.1681G>C p.V561L Missense 17/19 - 2
X-100608927-C-T c.1681G>A p.V561I Missense 17/19 - 2
X-100608928-TG-AT c.1679_1680delinsAT p.P560H Missense 17/19 - 1
X-100608928-TGG-AAA c.1678_1680delinsTTT p.P560F Missense 17/19 - 1
X-100608928-TGG-ACA c.1678_1680delinsTGT p.P560C Missense 17/19 - 1
X-100608928-TGG-ATA c.1678_1680delinsTAT p.P560Y Missense 17/19 - 1
X-100608928-TGG-CAT c.1678_1680delinsATG p.P560M Missense 17/19 - 1
X-100608928-TGG-CCA c.1678_1680inv p.P560W Missense 17/19 - 1
X-100608928-TGG-GTC c.1678_1680delinsGAC p.P560D Missense 17/19 - 1
X-100608928-TGG-GTT c.1678_1680delinsAAC p.P560N Missense 17/19 - 1
X-100608929-G-A c.1679C>T p.P560L Missense 17/19 - 2
X-100608929-G-C c.1679C>G p.P560R Missense 17/19 - 2
X-100608929-GG-AC c.1678_1679delinsGT p.P560V Missense 17/19 - 1
X-100608929-GG-AT c.1678_1679delinsAT p.P560I Missense 17/19 - 1
X-100608929-GG-CC c.1678_1679inv p.P560G Missense 17/19 - 1
X-100608929-GG-TC c.1678_1679delinsGA p.P560E Missense 17/19 - 1
X-100608929-GG-TT c.1678_1679delinsAA p.P560K Missense 17/19 - 1
X-100608929-G-T c.1679C>A p.P560Q Missense 17/19 - 2
X-100608928-TG-T c.1679del p.P560Qfs*10 Frameshift 17/19 - 1
X-100608930-G-A c.1678C>T p.P560S Missense 17/19 - 2
X-100608930-G-C c.1678C>G p.P560A Missense 17/19 - 4
X-100608930-G-T c.1678C>A p.P560T Missense 17/19 - 3
X-100608931-AAA-CAT c.1675_1677delinsATG p.F559M Missense 17/19 - 1
X-100608931-AAA-CTC c.1675_1677delinsGAG p.F559E Missense 17/19 - 1
X-100608931-AAA-CTT c.1675_1677delinsAAG p.F559K Missense 17/19 - 1
X-100608931-AAA-TTG c.1675_1677delinsCAA p.F559Q Missense 17/19 - 1
X-100608931-AA-CC c.1676_1677delinsGG p.F559W Missense 17/19 - 1
X-100608927-CTGGAAATT-C c.1673_1680del p.K558Sfs*12 Frameshift 17/19 - 2
X-100608932-AA-CC c.1675_1676delinsGG p.F559G Missense 17/19 - 1
X-100608932-AA-CG c.1675_1676delinsCG p.F559R Missense 17/19 - 1
X-100608932-AA-GC c.1675_1676delinsGC p.F559A Missense 17/19 - 2
X-100608932-AA-GG c.1675_1676delinsCC p.F559P Missense 17/19 - 1
X-100608932-AA-GT c.1675_1676delinsAC p.F559T Missense 17/19 - 1
X-100608932-AA-TC c.1675_1676delinsGA p.F559D Missense 17/19 - 1
X-100608932-AA-TG c.1675_1676delinsCA p.F559H Missense 17/19 - 1
X-100608932-AA-TT c.1675_1676inv p.F559N Missense 17/19 - 1
X-100608932-A-C c.1676T>G p.F559C Missense 17/19 - 2
X-100608932-A-G c.1676T>C p.F559S Missense 17/19 - 6
X-100608932-A-T c.1676T>A p.F559Y Missense 17/19 - 2
X-100608931-A-C c.1677T>G p.F559L Missense 17/19 - 2
X-100608931-A-T c.1677T>A p.F559L Missense 17/19 - 2
X-100608933-A-C c.1675T>G p.F559V Missense 17/19 - 2
X-100608933-A-G c.1675T>C p.F559L Missense 17/19 - 2
X-100608933-A-T c.1675T>A p.F559I Missense 17/19 - 2
X-100608934-T-A c.1674A>T p.K558N Missense 17/19 - 5
X-100608934-T-G c.1674A>C p.K558N Missense 17/19 - 5
X-100608934-TT-CA c.1673_1674delinsTG p.K558M Missense 17/19 - 1
X-100608934-TT-GC c.1673_1674delinsGC p.K558S Missense 17/19 - 1
X-100608934-TTT-AAA c.1672_1674inv p.K558F Missense 17/19 - 1
X-100608934-TTT-ACA c.1672_1674delinsTGT p.K558C Missense 17/19 - 1
X-100608934-TTT-ATA c.1672_1674delinsTAT p.K558Y Missense 17/19 - 1
X-100608934-TTT-ATG c.1672_1674delinsCAT p.K558H Missense 17/19 - 1
X-100608934-TTT-CCA c.1672_1674delinsTGG p.K558W Missense 17/19 - 1
X-100608934-TTT-GTC c.1672_1674delinsGAC p.K558D Missense 17/19 - 1
X-100608935-T-A c.1673A>T p.K558I Missense 17/19 - 2
X-100608935-T-C c.1673A>G p.K558R Missense 17/19 - 2
X-100608935-T-G c.1673A>C p.K558T Missense 17/19 - 2
X-100608935-TT-AC c.1672_1673delinsGT p.K558V Missense 17/19 - 1
X-100608935-TT-AG c.1672_1673delinsCT p.K558L Missense 17/19 - 1
X-100608935-TT-CC c.1672_1673delinsGG p.K558G Missense 17/19 - 1
X-100608935-TT-GC c.1672_1673delinsGC p.K558A Missense 17/19 - 1
X-100608935-TT-GG c.1672_1673delinsCC p.K558P Missense 17/19 - 1
X-100608936-T-C c.1672A>G p.K558E Missense 17/19 - 2
X-100608936-T-G c.1672A>C p.K558Q Missense 17/19 - 2
X-100608937-GGA-CAT c.1669_1671delinsATG p.S557M Missense 17/19 - 1
X-100608937-GGA-CTC c.1669_1671delinsGAG p.S557E Missense 17/19 - 1
X-100608937-GGA-CTT c.1669_1671delinsAAG p.S557K Missense 17/19 - 1
X-100608937-GGA-TTG c.1669_1671delinsCAA p.S557Q Missense 17/19 - 1
X-100608937-GG-CC c.1670_1671inv p.S557W Missense 17/19 - 1
X-100608938-G-A c.1670C>T p.S557F Missense 17/19 - 2
X-100608938-GA-AC c.1669_1670delinsGT p.S557V Missense 17/19 - 1
X-100608938-GA-AG c.1669_1670delinsCT p.S557L Missense 17/19 - 1
X-100608938-GA-AT c.1669_1670delinsAT p.S557I Missense 17/19 - 1
X-100608938-GA-CC c.1669_1670delinsGG p.S557G Missense 17/19 - 1
X-100608938-GA-CG c.1669_1670delinsCG p.S557R Missense 17/19 - 1
X-100608938-GA-TC c.1669_1670inv p.S557D Missense 17/19 - 1
X-100608938-GA-TG c.1669_1670delinsCA p.S557H Missense 17/19 - 1
X-100608938-GA-TT c.1669_1670delinsAA p.S557N Missense 17/19 - 2
X-100608938-G-C c.1670C>G p.S557C Missense 17/19 - 2
X-100608938-G-T c.1670C>A p.S557Y Missense 17/19 - 2
X-100608939-A-C c.1669T>G p.S557A Missense 17/19 - 2
X-100608939-A-G c.1669T>C p.S557P Missense 17/19 - 2
X-100608939-A-T c.1669T>A p.S557T Missense 17/19 - 2
X-100608940-GCC-CAT c.1666_1668delinsATG p.G556M Missense 17/19 - 1
X-100608940-GCC-CCA c.1666_1668delinsTGG p.G556W Missense 17/19 - 1
X-100608940-GCC-CTT c.1666_1668delinsAAG p.G556K Missense 17/19 - 1
X-100608940-GC-CT c.1667_1668delinsAG p.G556E Missense 17/19 - 1
X-100608940-GCC-TTG c.1666_1668delinsCAA p.G556Q Missense 17/19 - 1
X-100608941-C-A c.1667G>T p.G556V Missense 17/19 - 2
X-100608941-CC-AA c.1666_1667delinsTT p.G556F Missense 17/19 - 1
X-100608941-CC-AG c.1666_1667delinsCT p.G556L Missense 17/19 - 1
X-100608941-CC-AT c.1666_1667delinsAT p.G556I Missense 17/19 - 1
X-100608941-CC-GG c.1666_1667inv p.G556P Missense 17/19 - 1
X-100608941-CC-GT c.1666_1667delinsAC p.G556T Missense 17/19 - 1
X-100608941-CC-TA c.1666_1667delinsTA p.G556Y Missense 17/19 - 1
X-100608941-CC-TG c.1666_1667delinsCA p.G556H Missense 17/19 - 1
X-100608941-CC-TT c.1666_1667delinsAA p.G556N Missense 17/19 - 1
X-100608941-C-G c.1667G>C p.G556A Missense 17/19 - 2
X-100608941-C-T c.1667G>A p.G556D Missense 17/19 - 2
X-100608942-C-A c.1666G>T p.G556C Missense 17/19 - 2
X-100608942-C-G c.1666G>C p.G556R Missense 17/19 - 2
X-100608942-C-T c.1666G>A p.G556S Missense 17/19 - 3
X-100608943-TAC-AAA c.1663_1665delinsTTT p.V555F Missense 17/19 - 1
X-100608943-TAC-ACA c.1663_1665delinsTGT p.V555C Missense 17/19 - 1
X-100608943-TAC-ATA c.1663_1665delinsTAT p.V555Y Missense 17/19 - 1
X-100608943-TAC-ATG c.1663_1665delinsCAT p.V555H Missense 17/19 - 1
X-100608943-TAC-CAT c.1663_1665delinsATG p.V555M Missense 17/19 - 2
X-100608943-TAC-CCA c.1663_1665delinsTGG p.V555W Missense 17/19 - 1
X-100608943-TAC-GTT c.1663_1665delinsAAC p.V555N Missense 17/19 - 1
X-100608943-TA-GT c.1664_1665delinsAC p.V555D Missense 17/19 - 1
X-100608944-A-C c.1664T>G p.V555G Missense 17/19 - 2
X-100608944-AC-CT c.1663_1664delinsAG p.V555R Missense 17/19 - 2
X-100608944-AC-GA c.1663_1664delinsTC p.V555S Missense 17/19 - 1
X-100608944-AC-GG c.1663_1664delinsCC p.V555P Missense 17/19 - 1
X-100608944-AC-GT c.1663_1664inv p.V555T Missense 17/19 - 1
X-100608944-AC-TG c.1663_1664delinsCA p.V555Q Missense 17/19 - 1
X-100608944-AC-TT c.1663_1664delinsAA p.V555K Missense 17/19 - 1
X-100608944-A-G c.1664T>C p.V555A Missense 17/19 - 2
X-100608944-A-T c.1664T>A p.V555E Missense 17/19 - 1
X-100608945-C-A c.1663G>T p.V555L Missense 17/19 - 2
X-100608945-C-G c.1663G>C p.V555L Missense 17/19 - 2
X-100608945-C-T c.1663G>A p.V555I Missense 17/19 - 3
X-100608946-T-A c.1662A>T p.S554= Synonymous 17/19 - 2
X-100608946-TG-AA c.1661_1662delinsTT p.S554F Missense 17/19 - 1
X-100608946-TGA-ATG c.1660_1662delinsCAT p.S554H Missense 17/19 - 1
X-100608946-TG-AC c.1661_1662delinsGT p.S554C Missense 17/19 - 1
X-100608946-TGA-CAT c.1660_1662delinsATG p.S554M Missense 17/19 - 1
X-100608946-TGA-GTC c.1660_1662delinsGAC p.S554D Missense 17/19 - 1
X-100608946-TGA-GTT c.1660_1662delinsAAC p.S554N Missense 17/19 - 1
X-100608946-TG-AT c.1661_1662delinsAT p.S554Y Missense 17/19 - 1
X-100608946-TG-CC c.1661_1662delinsGG p.S554W Missense 17/19 - 1
X-100608947-G-A c.1661C>T p.S554L Missense 17/19 - 2
X-100608947-GA-AC c.1660_1661delinsGT p.S554V Missense 17/19 - 1
X-100608947-GA-AT c.1660_1661delinsAT p.S554I Missense 17/19 - 1
X-100608947-GA-CC c.1660_1661delinsGG p.S554G Missense 17/19 - 1
X-100608947-GA-CT c.1660_1661delinsAG p.S554R Missense 17/19 - 1
X-100608947-GA-TC c.1660_1661inv p.S554E Missense 17/19 - 1
X-100608947-GA-TG c.1660_1661delinsCA p.S554Q Missense 17/19 - 1
X-100608947-GA-TT c.1660_1661delinsAA p.S554K Missense 17/19 - 1
X-100608948-A-C c.1660T>G p.S554A Missense 17/19 - 2
X-100608948-A-G c.1660T>C p.S554P Missense 17/19 - 2
X-100608948-A-T c.1660T>A p.S554T Missense 17/19 - 2
X-100608949-G-A c.1659C>T p.S553= Synonymous 17/19 - 1
X-100608949-G-C c.1659C>G p.S553R Missense 17/19 - 2
X-100608949-GC-CA c.1658_1659delinsTG p.S553M Missense 17/19 - 1
X-100608949-GC-CT c.1658_1659delinsAG p.S553K Missense 17/19 - 1
X-100608949-GCT-CCA c.1657_1659delinsTGG p.S553W Missense 17/19 - 1
X-100608949-GCT-CTC c.1657_1659delinsGAG p.S553E Missense 17/19 - 1
X-100608949-GCT-TTG c.1657_1659delinsCAA p.S553Q Missense 17/19 - 1
X-100608949-G-T c.1659C>A p.S553R Missense 17/19 - 2
X-100608951-T-G c.1657A>C p.S553R Missense 17/19 - 2
X-100608950-C-A c.1658G>T p.S553I Missense 17/19 - 2
X-100608950-C-G c.1658G>C p.S553T Missense 17/19 - 2
X-100608950-C-T c.1658G>A p.S553N Missense 17/19 - 3
X-100608950-CT-AA c.1657_1658delinsTT p.S553F Missense 17/19 - 1
X-100608950-CT-AC c.1657_1658delinsGT p.S553V Missense 17/19 - 1
X-100608950-CT-AG c.1657_1658inv p.S553L Missense 17/19 - 1
X-100608950-CT-GC c.1657_1658delinsGC p.S553A Missense 17/19 - 1
X-100608950-CT-GG c.1657_1658delinsCC p.S553P Missense 17/19 - 1
X-100608950-CT-TA c.1657_1658delinsTA p.S553Y Missense 17/19 - 1
X-100608950-CT-TC c.1657_1658delinsGA p.S553D Missense 17/19 - 1
X-100608950-CT-TG c.1657_1658delinsCA p.S553H Missense 17/19 - 1
X-100608951-T-A c.1657A>T p.S553C Missense 17/19 - 2
X-100608951-T-C c.1657A>G p.S553G Missense 17/19 - 2
X-100608950-CT-C c.1657del p.S553Afs*3 Frameshift 17/19 - 4
X-100608952-TG-CA c.1655_1656inv p.T552M Missense 17/19 - 1
X-100608952-TG-GT c.1655_1656delinsAC p.T552N Missense 17/19 - 1
X-100608952-TGT-AAA c.1654_1656delinsTTT p.T552F Missense 17/19 - 1
X-100608952-TGT-ACA c.1654_1656inv p.T552C Missense 17/19 - 1
X-100608952-TGT-ATA c.1654_1656delinsTAT p.T552Y Missense 17/19 - 1
X-100608952-TGT-ATG c.1654_1656delinsCAT p.T552H Missense 17/19 - 1
X-100608952-TGT-CCA c.1654_1656delinsTGG p.T552W Missense 17/19 - 1
X-100608952-TGT-GTC c.1654_1656delinsGAC p.T552D Missense 17/19 - 1
X-100608953-G-A c.1655C>T p.T552I Missense 17/19 - 2
X-100608953-G-C c.1655C>G p.T552R Missense 17/19 - 2
X-100608953-G-T c.1655C>A p.T552K Missense 17/19 - 3
X-100608953-GT-AC c.1654_1655inv p.T552V Missense 17/19 - 1
X-100608953-GT-AG c.1654_1655delinsCT p.T552L Missense 17/19 - 1
X-100608953-GT-CC c.1654_1655delinsGG p.T552G Missense 17/19 - 1
X-100608953-GT-TC c.1654_1655delinsGA p.T552E Missense 17/19 - 1
X-100608953-GT-TG c.1654_1655delinsCA p.T552Q Missense 17/19 - 1
X-100608954-T-A c.1654A>T p.T552S Missense 17/19 - 2
X-100608954-T-C c.1654A>G p.T552A Missense 17/19 - 2
X-100608954-T-G c.1654A>C p.T552P Missense 17/19 - 2
X-100608955-GTA-CAT c.1651_1653delinsATG p.Y551M Missense 17/19 - 1
X-100608955-GTA-CTC c.1651_1653delinsGAG p.Y551E Missense 17/19 - 5
X-100608955-GTA-CTT c.1651_1653delinsAAG p.Y551K Missense 17/19 - 1
X-100608955-GTA-TTG c.1651_1653delinsCAA p.Y551Q Missense 17/19 - 1
X-100608955-GT-CC c.1652_1653delinsGG p.Y551W Missense 17/19 - 1
X-100608956-T-A c.1652A>T p.Y551F Missense 17/19 - 11
X-100608956-TA-AC c.1651_1652delinsGT p.Y551V Missense 17/19 - 1
X-100608956-TA-AG c.1651_1652delinsCT p.Y551L Missense 17/19 - 1
X-100608956-TA-AT c.1651_1652delinsAT p.Y551I Missense 17/19 - 1
X-100608956-TA-CC c.1651_1652delinsGG p.Y551G Missense 17/19 - 1
X-100608956-TA-CG c.1651_1652delinsCG p.Y551R Missense 17/19 - 1
X-100608956-TA-GC c.1651_1652delinsGC p.Y551A Missense 17/19 - 2
X-100608956-TA-GG c.1651_1652delinsCC p.Y551P Missense 17/19 - 1
X-100608956-TA-GT c.1651_1652delinsAC p.Y551T Missense 17/19 - 1
X-100608956-T-C c.1652A>G p.Y551C Missense 17/19 - 3
X-100608956-T-G c.1652A>C p.Y551S Missense 17/19 - 2
X-100608957-A-C c.1651T>G p.Y551D Missense 17/19 - 3
X-100608957-A-G c.1651T>C p.Y551H Missense 17/19 - 4
X-100608957-A-T c.1651T>A p.Y551N Missense 17/19 - 5
X-100608958-ATTCAT-A c.1646_1650del p.D549Vfs*22 Frameshift 17/19 - 1
X-100608958-T-A c.1650A>T p.E550D Missense 17/19 - 2
X-100608958-T-G c.1650A>C p.E550D Missense 17/19 - 2
X-100608958-TTC-AAA c.1648_1650delinsTTT p.E550F Missense 17/19 - 1
X-100608958-TTC-ACA c.1648_1650delinsTGT p.E550C Missense 17/19 - 1
X-100608958-TTC-ATA c.1648_1650delinsTAT p.E550Y Missense 17/19 - 1
X-100608958-TTC-ATG c.1648_1650delinsCAT p.E550H Missense 17/19 - 1
X-100608958-TTC-CAT c.1648_1650delinsATG p.E550M Missense 17/19 - 1
X-100608958-TTC-CCA c.1648_1650delinsTGG p.E550W Missense 17/19 - 1
X-100608958-TTC-GTT c.1648_1650delinsAAC p.E550N Missense 17/19 - 1
X-100608959-T-A c.1649A>T p.E550V Missense 17/19 - 2
X-100608959-T-C c.1649A>G p.E550G Missense 17/19 - 2
X-100608959-TC-AG c.1648_1649delinsCT p.E550L Missense 17/19 - 1
X-100608959-TC-AT c.1648_1649delinsAT p.E550I Missense 17/19 - 1
X-100608959-TC-CT c.1648_1649delinsAG p.E550R Missense 17/19 - 1
X-100608959-TC-GA c.1648_1649inv p.E550S Missense 17/19 - 1
X-100608959-TC-GG c.1648_1649delinsCC p.E550P Missense 17/19 - 1
X-100608959-TC-GT c.1648_1649delinsAC p.E550T Missense 17/19 - 1
X-100608959-T-G c.1649A>C p.E550A Missense 17/19 - 2
X-100608960-C-G c.1648G>C p.E550Q Missense 17/19 - 2
X-100608960-C-T c.1648G>A p.E550K Missense 17/19 - 4
X-100608961-A-C c.1647T>G p.D549E Missense 17/19 - 3
X-100608961-A-T c.1647T>A p.D549E Missense 17/19 - 3
X-100608961-ATC-CAT c.1645_1647delinsATG p.D549M Missense 17/19 - 1
X-100608961-ATC-CCA c.1645_1647delinsTGG p.D549W Missense 17/19 - 1
X-100608961-ATC-CTT c.1645_1647delinsAAG p.D549K Missense 17/19 - 1
X-100608961-ATC-TTG c.1645_1647delinsCAA p.D549Q Missense 17/19 - 1
X-100608962-T-A c.1646A>T p.D549V Missense 17/19 - 3
X-100608962-T-C c.1646A>G p.D549G Missense 17/19 - 2
X-100608962-TC-AA c.1645_1646delinsTT p.D549F Missense 17/19 - 1
X-100608962-TC-AG c.1645_1646delinsCT p.D549L Missense 17/19 - 1
X-100608962-TC-AT c.1645_1646delinsAT p.D549I Missense 17/19 - 1
X-100608962-TC-CA c.1645_1646delinsTG p.D549C Missense 17/19 - 1
X-100608962-TC-CG c.1645_1646delinsCG p.D549R Missense 17/19 - 1
X-100608962-TC-CT c.1645_1646delinsAG p.D549S Missense 17/19 - 1
X-100608962-TC-GG c.1645_1646delinsCC p.D549P Missense 17/19 - 1
X-100608962-TC-GT c.1645_1646delinsAC p.D549T Missense 17/19 - 1
X-100608962-T-G c.1646A>C p.D549A Missense 17/19 - 3
X-100608963-C-A c.1645G>T p.D549Y Missense 17/19 - 3
X-100608963-C-G c.1645G>C p.D549H Missense 17/19 - 2
X-100608963-C-T c.1645G>A p.D549N Missense 17/19 - 7
X-100608964-A-C c.1644T>G p.D548E Missense 17/19 - 2
X-100608964-A-T c.1644T>A p.D548E Missense 17/19 - 2
X-100608964-ATC-CAT c.1642_1644delinsATG p.D548M Missense 17/19 - 1
X-100608964-ATC-CCA c.1642_1644delinsTGG p.D548W Missense 17/19 - 1
X-100608964-ATC-CTT c.1642_1644delinsAAG p.D548K Missense 17/19 - 1
X-100608964-ATC-TTG c.1642_1644delinsCAA p.D548Q Missense 17/19 - 1
X-100608965-T-A c.1643A>T p.D548V Missense 17/19 - 2
X-100608965-T-C c.1643A>G p.D548G Missense 17/19 - 2
X-100608965-TC-AA c.1642_1643delinsTT p.D548F Missense 17/19 - 1
X-100608965-TC-AG c.1642_1643delinsCT p.D548L Missense 17/19 - 1
X-100608965-TC-AT c.1642_1643delinsAT p.D548I Missense 17/19 - 1
X-100608965-TC-CA c.1642_1643delinsTG p.D548C Missense 17/19 - 1
X-100608965-TC-CG c.1642_1643delinsCG p.D548R Missense 17/19 - 1
X-100608965-TC-CT c.1642_1643delinsAG p.D548S Missense 17/19 - 1
X-100608965-TC-GG c.1642_1643delinsCC p.D548P Missense 17/19 - 1
X-100608965-TC-GT c.1642_1643delinsAC p.D548T Missense 17/19 - 1
X-100608965-T-G c.1643A>C p.D548A Missense 17/19 - 2
X-100608966-C-A c.1642G>T p.D548Y Missense 17/19 - 2
X-100608966-C-G c.1642G>C p.D548H Missense 17/19 - 2
X-100608966-C-T c.1642G>A p.D548N Missense 17/19 - 3
X-100608967-C-A c.1641G>T p.L547= Synonymous 17/19 - 1
X-100608967-CA-AT c.1640_1641delinsAT p.L547H Missense 17/19 - 1
X-100608967-CAG-AAA c.1639_1641delinsTTT p.L547F Missense 17/19 - 1
X-100608967-CAG-ACA c.1639_1641delinsTGT p.L547C Missense 17/19 - 1
X-100608967-CAG-ATA c.1639_1641delinsTAT p.L547Y Missense 17/19 - 1
X-100608967-CAG-GAT c.1639_1641delinsATC p.L547I Missense 17/19 - 1
X-100608967-CAG-GTC c.1639_1641delinsGAC p.L547D Missense 17/19 - 1
X-100608967-CAG-GTT c.1639_1641delinsAAC p.L547N Missense 17/19 - 1
X-100608967-C-G c.1641G>C p.L547= Synonymous 17/19 - 1
X-100608967-C-T c.1641G>A p.L547= Synonymous 17/19 - 1
X-100608969-G-A c.1639C>T p.L547= Synonymous 17/19 - 1
X-100608968-A-C c.1640T>G p.L547R Missense 17/19 - 2
X-100608968-A-G c.1640T>C p.L547P Missense 17/19 - 7
X-100608968-AG-CA c.1639_1640delinsTG p.L547W Missense 17/19 - 1
X-100608968-AG-CC c.1639_1640delinsGG p.L547G Missense 17/19 - 1
X-100608968-AG-GA c.1639_1640delinsTC p.L547S Missense 17/19 - 1
X-100608968-AG-GC c.1639_1640delinsGC p.L547A Missense 17/19 - 1
X-100608968-AG-GT c.1639_1640delinsAC p.L547T Missense 17/19 - 1
X-100608968-AG-TC c.1639_1640delinsGA p.L547E Missense 17/19 - 1
X-100608968-AG-TT c.1639_1640delinsAA p.L547K Missense 17/19 - 1
X-100608968-A-T c.1640T>A p.L547Q Missense 17/19 - 2
X-100608969-G-C c.1639C>G p.L547V Missense 17/19 - 2
X-100608969-G-T c.1639C>A p.L547M Missense 17/19 - 2
X-100608970-G-A c.1638C>T p.V546= Synonymous 17/19 - 1
X-100608970-GAC-CAT c.1636_1638delinsATG p.V546M Missense 17/19 - 1
X-100608970-GAC-CCA c.1636_1638delinsTGG p.V546W Missense 17/19 - 1
X-100608970-GAC-CTT c.1636_1638delinsAAG p.V546K Missense 17/19 - 1
X-100608970-GA-CT c.1637_1638delinsAG p.V546E Missense 17/19 - 1
X-100608970-GAC-TTG c.1636_1638delinsCAA p.V546Q Missense 17/19 - 1
X-100608970-G-C c.1638C>G p.V546= Synonymous 17/19 - 3
X-100608970-G-T c.1638C>A p.V546= Synonymous 17/19 - 1
X-100608971-A-C c.1637T>G p.V546G Missense 17/19 - 2
X-100608971-AC-CA c.1636_1637delinsTG p.V546C Missense 17/19 - 1
X-100608971-AC-CG c.1636_1637delinsCG p.V546R Missense 17/19 - 1
X-100608971-AC-CT c.1636_1637delinsAG p.V546S Missense 17/19 - 1
X-100608971-AC-GG c.1636_1637delinsCC p.V546P Missense 17/19 - 1
X-100608971-AC-GT c.1636_1637inv p.V546T Missense 17/19 - 1
X-100608971-AC-TA c.1636_1637delinsTA p.V546Y Missense 17/19 - 1
X-100608971-AC-TG c.1636_1637delinsCA p.V546H Missense 17/19 - 1
X-100608971-AC-TT c.1636_1637delinsAA p.V546N Missense 17/19 - 1
X-100608971-A-G c.1637T>C p.V546A Missense 17/19 - 3
X-100608971-A-T c.1637T>A p.V546D Missense 17/19 - 2
X-100608972-C-A c.1636G>T p.V546F Missense 17/19 - 2
X-100608972-C-G c.1636G>C p.V546L Missense 17/19 - 2
X-100608972-C-T c.1636G>A p.V546I Missense 17/19 - 2
X-100608973-ATA-CAT c.1633_1635delinsATG p.Y545M Missense 17/19 - 1
X-100608973-ATA-CTC c.1633_1635delinsGAG p.Y545E Missense 17/19 - 1
X-100608973-ATA-CTT c.1633_1635delinsAAG p.Y545K Missense 17/19 - 1
X-100608973-ATA-TTG c.1633_1635delinsCAA p.Y545Q Missense 17/19 - 1
X-100608973-AT-CC c.1634_1635delinsGG p.Y545W Missense 17/19 - 1
X-100608974-T-A c.1634A>T p.Y545F Missense 17/19 - 2
X-100608974-TA-AC c.1633_1634delinsGT p.Y545V Missense 17/19 - 1
X-100608974-TA-AG c.1633_1634delinsCT p.Y545L Missense 17/19 - 1
X-100608974-TA-AT c.1633_1634delinsAT p.Y545I Missense 17/19 - 1
X-100608974-TA-CC c.1633_1634delinsGG p.Y545G Missense 17/19 - 1
X-100608974-TA-CG c.1633_1634delinsCG p.Y545R Missense 17/19 - 1
X-100608974-TA-GC c.1633_1634delinsGC p.Y545A Missense 17/19 - 1
X-100608974-TA-GG c.1633_1634delinsCC p.Y545P Missense 17/19 - 1
X-100608974-TA-GT c.1633_1634delinsAC p.Y545T Missense 17/19 - 1
X-100608974-T-C c.1634A>G p.Y545C Missense 17/19 - 2
X-100608974-T-G c.1634A>C p.Y545S Missense 17/19 - 2
X-100608975-A-C c.1633T>G p.Y545D Missense 17/19 - 2
X-100608975-A-G c.1633T>C p.Y545H Missense 17/19 - 3
X-100608975-A-T c.1633T>A p.Y545N Missense 17/19 - 2
X-100608976-C-A c.1632G>T p.R544S Missense 17/19 - 8
X-100608976-C-G c.1632G>C p.R544S Missense 17/19 - 7
X-100609418-GGAAAGGGATATGACAATAAAACAAAAGGATGAAAGAGGTGGCTTAAATAACTCAGAGGA-G c.1631+142_1631+200del - Unclassified - 16/18 1
X-100609547-G-A c.1631+71C>T - IntronicSNV - 16/18 8
X-100609613-C-G c.1631+5G>C - IntronicSNV - 16/18 3
X-100609614-T-G c.1631+4A>C - IntronicSNV - 16/18 1
X-100609612-ACTCAC-A c.1631+1_1631+5del - SpliceDonorDeletion 16/19 16/18 1
X-100609616-A-T c.1631+2T>A - IntronicSNV - 16/18 1
X-100609617-C-A c.1631+1G>T - IntronicSNV - 16/18 1
X-100609617-C-T c.1631+1G>A - IntronicSNV - 16/18 2
X-100609618-C-A c.1631G>T p.R544M Missense 16/19 - 7
X-100609618-C-G c.1631G>C p.R544T Missense 16/19 - 2
X-100609618-C-T c.1631G>A p.R544K Missense 16/19 - 7
X-100609618-CT-AC c.1630_1631delinsGT p.R544V Missense 16/19 - 1
X-100609618-CT-AG c.1630_1631inv p.R544L Missense 16/19 - 1
X-100609618-CT-GC c.1630_1631delinsGC p.R544A Missense 16/19 - 1
X-100609618-CT-GG c.1630_1631delinsCC p.R544P Missense 16/19 - 1
X-100609618-CT-TC c.1630_1631delinsGA p.R544E Missense 16/19 - 2
X-100609618-CT-TG c.1630_1631delinsCA p.R544Q Missense 16/19 - 1
X-100609619-T-A c.1630A>T p.R544W Missense 16/19 - 3
X-100609619-T-C c.1630A>G p.R544G Missense 16/19 - 8
X-100609620-GGA-CAT c.1627_1629delinsATG p.S543M Missense 16/19 - 1
X-100609620-GGA-CTC c.1627_1629delinsGAG p.S543E Missense 16/19 - 1
X-100609620-GGA-CTT c.1627_1629delinsAAG p.S543K Missense 16/19 - 1
X-100609620-GGA-TTG c.1627_1629delinsCAA p.S543Q Missense 16/19 - 1
X-100609620-GG-CC c.1628_1629inv p.S543W Missense 16/19 - 1
X-100609621-G-A c.1628C>T p.S543F Missense 16/19 - 2
X-100609621-GA-AC c.1627_1628delinsGT p.S543V Missense 16/19 - 1
X-100609621-GA-AG c.1627_1628delinsCT p.S543L Missense 16/19 - 1
X-100609621-GA-AT c.1627_1628delinsAT p.S543I Missense 16/19 - 1
X-100609621-GA-CC c.1627_1628delinsGG p.S543G Missense 16/19 - 1
X-100609621-GA-CG c.1627_1628delinsCG p.S543R Missense 16/19 - 1
X-100609621-GA-TC c.1627_1628inv p.S543D Missense 16/19 - 1
X-100609621-GA-TG c.1627_1628delinsCA p.S543H Missense 16/19 - 1
X-100609621-GA-TT c.1627_1628delinsAA p.S543N Missense 16/19 - 1
X-100609621-G-C c.1628C>G p.S543C Missense 16/19 - 2
X-100609621-G-T c.1628C>A p.S543Y Missense 16/19 - 2
X-100609622-A-C c.1627T>G p.S543A Missense 16/19 - 2
X-100609622-A-G c.1627T>C p.S543P Missense 16/19 - 2
X-100609622-A-T c.1627T>A p.S543T Missense 16/19 - 2
X-100609623-CA-AT c.1625_1626delinsAT p.L542H Missense 16/19 - 1
X-100609623-CAG-AAA c.1624_1626delinsTTT p.L542F Missense 16/19 - 1
X-100609623-CAG-ACA c.1624_1626delinsTGT p.L542C Missense 16/19 - 1
X-100609623-CAG-ATA c.1624_1626delinsTAT p.L542Y Missense 16/19 - 1
X-100609623-CAG-GAT c.1624_1626delinsATC p.L542I Missense 16/19 - 1
X-100609623-CAG-GTC c.1624_1626delinsGAC p.L542D Missense 16/19 - 1
X-100609623-CAG-GTT c.1624_1626delinsAAC p.L542N Missense 16/19 - 1
X-100609624-A-C c.1625T>G p.L542R Missense 16/19 - 2
X-100609624-A-G c.1625T>C p.L542P Missense 16/19 - 5
X-100609624-AG-CA c.1624_1625delinsTG p.L542W Missense 16/19 - 1
X-100609624-AG-CC c.1624_1625delinsGG p.L542G Missense 16/19 - 1
X-100609624-AG-GA c.1624_1625delinsTC p.L542S Missense 16/19 - 1
X-100609624-AG-GC c.1624_1625delinsGC p.L542A Missense 16/19 - 1
X-100609624-AG-GT c.1624_1625delinsAC p.L542T Missense 16/19 - 1
X-100609624-AG-TC c.1624_1625delinsGA p.L542E Missense 16/19 - 1
X-100609624-AG-TT c.1624_1625delinsAA p.L542K Missense 16/19 - 1
X-100609624-A-T c.1625T>A p.L542Q Missense 16/19 - 2
X-100609625-G-C c.1624C>G p.L542V Missense 16/19 - 2
X-100609625-G-T c.1624C>A p.L542M Missense 16/19 - 3
X-100609626-GCC-CAT c.1621_1623delinsATG p.G541M Missense 16/19 - 1
X-100609626-GCC-CCA c.1621_1623delinsTGG p.G541W Missense 16/19 - 1
X-100609626-GCC-CTT c.1621_1623delinsAAG p.G541K Missense 16/19 - 1
X-100609626-GC-CT c.1622_1623delinsAG p.G541E Missense 16/19 - 2
X-100609626-GCC-TTG c.1621_1623delinsCAA p.G541Q Missense 16/19 - 1
X-100609627-C-A c.1622G>T p.G541V Missense 16/19 - 3
X-100609627-CC-AA c.1621_1622delinsTT p.G541F Missense 16/19 - 1
X-100609627-CC-AG c.1621_1622delinsCT p.G541L Missense 16/19 - 2
X-100609627-CC-AT c.1621_1622delinsAT p.G541I Missense 16/19 - 1
X-100609627-CC-GG c.1621_1622inv p.G541P Missense 16/19 - 1
X-100609627-CC-GT c.1621_1622delinsAC p.G541T Missense 16/19 - 1
X-100609627-CC-TA c.1621_1622delinsTA p.G541Y Missense 16/19 - 1
X-100609627-CC-TG c.1621_1622delinsCA p.G541H Missense 16/19 - 1
X-100609627-CC-TT c.1621_1622delinsAA p.G541N Missense 16/19 - 1
X-100609627-C-G c.1622G>C p.G541A Missense 16/19 - 3
X-100609627-C-T c.1622G>A p.G541D Missense 16/19 - 3
X-100609626-GC-G c.1622del p.G541Afs*15 Frameshift 16/19 - 1
X-100609628-C-A c.1621G>T p.G541C Missense 16/19 - 3
X-100609628-C-G c.1621G>C p.G541R Missense 16/19 - 2
X-100609628-CG-AT c.1620_1621delinsAT p.F540_G541delinsLC MultiAAMissense 16/19 - 1
X-100609628-C-T c.1621G>A p.G541S Missense 16/19 - 5
X-100609629-G-A c.1620C>T p.F540= Synonymous 16/19 - 1
X-100609629-GAA-CAT c.1618_1620delinsATG p.F540M Missense 16/19 - 1
X-100609629-GAA-CTC c.1618_1620delinsGAG p.F540E Missense 16/19 - 1
X-100609629-GAA-CTT c.1618_1620delinsAAG p.F540K Missense 16/19 - 1
X-100609629-GAA-TTG c.1618_1620delinsCAA p.F540Q Missense 16/19 - 1
X-100609629-GA-CC c.1619_1620delinsGG p.F540W Missense 16/19 - 1
X-100609630-AA-CC c.1618_1619delinsGG p.F540G Missense 16/19 - 1
X-100609630-AA-CG c.1618_1619delinsCG p.F540R Missense 16/19 - 1
X-100609630-AA-GC c.1618_1619delinsGC p.F540A Missense 16/19 - 1
X-100609630-AA-GG c.1618_1619delinsCC p.F540P Missense 16/19 - 1
X-100609630-AA-GT c.1618_1619delinsAC p.F540T Missense 16/19 - 1
X-100609630-AA-TC c.1618_1619delinsGA p.F540D Missense 16/19 - 1
X-100609630-AA-TG c.1618_1619delinsCA p.F540H Missense 16/19 - 1
X-100609630-AA-TT c.1618_1619inv p.F540N Missense 16/19 - 1
X-100609630-A-C c.1619T>G p.F540C Missense 16/19 - 2
X-100609630-A-G c.1619T>C p.F540S Missense 16/19 - 4
X-100609630-A-T c.1619T>A p.F540Y Missense 16/19 - 2
X-100609629-G-C c.1620C>G p.F540L Missense 16/19 - 3
X-100609629-G-T c.1620C>A p.F540L Missense 16/19 - 3
X-100609631-A-C c.1618T>G p.F540V Missense 16/19 - 2
X-100609631-A-G c.1618T>C p.F540L Missense 16/19 - 3
X-100609631-A-T c.1618T>A p.F540I Missense 16/19 - 2
X-100609632-A-C c.1617T>G p.D539E Missense 16/19 - 2
X-100609632-A-T c.1617T>A p.D539E Missense 16/19 - 2
X-100609632-ATC-CAT c.1615_1617delinsATG p.D539M Missense 16/19 - 1
X-100609632-ATC-CCA c.1615_1617delinsTGG p.D539W Missense 16/19 - 1
X-100609632-ATC-CTT c.1615_1617delinsAAG p.D539K Missense 16/19 - 1
X-100609632-ATC-TTG c.1615_1617delinsCAA p.D539Q Missense 16/19 - 1
X-100609633-T-A c.1616A>T p.D539V Missense 16/19 - 2
X-100609633-T-C c.1616A>G p.D539G Missense 16/19 - 2
X-100609633-TC-AA c.1615_1616delinsTT p.D539F Missense 16/19 - 1
X-100609633-TC-AG c.1615_1616delinsCT p.D539L Missense 16/19 - 1
X-100609633-TC-AT c.1615_1616delinsAT p.D539I Missense 16/19 - 1
X-100609633-TC-CA c.1615_1616delinsTG p.D539C Missense 16/19 - 1
X-100609633-TC-CG c.1615_1616delinsCG p.D539R Missense 16/19 - 1
X-100609633-TC-CT c.1615_1616delinsAG p.D539S Missense 16/19 - 1
X-100609633-TC-GG c.1615_1616delinsCC p.D539P Missense 16/19 - 1
X-100609633-TC-GT c.1615_1616delinsAC p.D539T Missense 16/19 - 1
X-100609633-T-G c.1616A>C p.D539A Missense 16/19 - 3
X-100609634-C-A c.1615G>T p.D539Y Missense 16/19 - 3
X-100609634-C-G c.1615G>C p.D539H Missense 16/19 - 2
X-100609634-C-T c.1615G>A p.D539N Missense 16/19 - 5
X-100609635-AGA-CAT c.1612_1614delinsATG p.S538M Missense 16/19 - 1
X-100609635-AGA-CTC c.1612_1614delinsGAG p.S538E Missense 16/19 - 1
X-100609635-AGA-CTT c.1612_1614delinsAAG p.S538K Missense 16/19 - 1
X-100609635-AGA-TTG c.1612_1614delinsCAA p.S538Q Missense 16/19 - 1
X-100609635-AG-CC c.1613_1614delinsGG p.S538W Missense 16/19 - 1
X-100609636-G-A c.1613C>T p.S538F Missense 16/19 - 1
X-100609636-GA-AC c.1612_1613delinsGT p.S538V Missense 16/19 - 1
X-100609636-GA-AG c.1612_1613delinsCT p.S538L Missense 16/19 - 1
X-100609636-GA-AT c.1612_1613delinsAT p.S538I Missense 16/19 - 1
X-100609636-GA-CC c.1612_1613delinsGG p.S538G Missense 16/19 - 1
X-100609636-GA-CG c.1612_1613delinsCG p.S538R Missense 16/19 - 1
X-100609636-GA-TC c.1612_1613inv p.S538D Missense 16/19 - 1
X-100609636-GA-TG c.1612_1613delinsCA p.S538H Missense 16/19 - 1
X-100609636-GA-TT c.1612_1613delinsAA p.S538N Missense 16/19 - 1
X-100609636-G-C c.1613C>G p.S538C Missense 16/19 - 2
X-100609636-G-T c.1613C>A p.S538Y Missense 16/19 - 2
X-100609637-A-C c.1612T>G p.S538A Missense 16/19 - 4
X-100609637-A-G c.1612T>C p.S538P Missense 16/19 - 3
X-100609637-A-T c.1612T>A p.S538T Missense 16/19 - 2
X-100609638-TAC-AAA c.1609_1611delinsTTT p.V537F Missense 16/19 - 1
X-100609638-TAC-ACA c.1609_1611delinsTGT p.V537C Missense 16/19 - 1
X-100609638-TAC-ATA c.1609_1611delinsTAT p.V537Y Missense 16/19 - 1
X-100609638-TAC-ATG c.1609_1611delinsCAT p.V537H Missense 16/19 - 1
X-100609638-TAC-CAT c.1609_1611delinsATG p.V537M Missense 16/19 - 1
X-100609638-TAC-CCA c.1609_1611delinsTGG p.V537W Missense 16/19 - 1
X-100609638-TAC-GTT c.1609_1611delinsAAC p.V537N Missense 16/19 - 1
X-100609638-TA-GT c.1610_1611delinsAC p.V537D Missense 16/19 - 1
X-100609639-A-C c.1610T>G p.V537G Missense 16/19 - 2
X-100609639-AC-CT c.1609_1610delinsAG p.V537R Missense 16/19 - 1
X-100609639-AC-GA c.1609_1610delinsTC p.V537S Missense 16/19 - 1
X-100609639-AC-GG c.1609_1610delinsCC p.V537P Missense 16/19 - 1
X-100609639-AC-GT c.1609_1610inv p.V537T Missense 16/19 - 1
X-100609639-AC-TG c.1609_1610delinsCA p.V537Q Missense 16/19 - 1
X-100609639-AC-TT c.1609_1610delinsAA p.V537K Missense 16/19 - 1
X-100609639-A-G c.1610T>C p.V537A Missense 16/19 - 3
X-100609639-A-T c.1610T>A p.V537E Missense 16/19 - 2
X-100609639-TA-T c.1610del p.V537Dfs*19 Frameshift 16/19 - 3
X-100609640-C-A c.1609G>T p.V537L Missense 16/19 - 3
X-100609640-C-G c.1609G>C p.V537L Missense 16/19 - 3
X-100609640-C-T c.1609G>A p.V537I Missense 16/19 - 8
X-100609641-T-A c.1608A>T p.K536N Missense 16/19 - 2
X-100609641-T-G c.1608A>C p.K536N Missense 16/19 - 2
X-100609641-TT-CA c.1607_1608delinsTG p.K536M Missense 16/19 - 1
X-100609641-TT-GC c.1607_1608delinsGC p.K536S Missense 16/19 - 1
X-100609641-TTT-AAA c.1606_1608inv p.K536F Missense 16/19 - 1
X-100609641-TTT-ACA c.1606_1608delinsTGT p.K536C Missense 16/19 - 1
X-100609641-TTT-ATA c.1606_1608delinsTAT p.K536Y Missense 16/19 - 1
X-100609641-TTT-ATG c.1606_1608delinsCAT p.K536H Missense 16/19 - 1
X-100609641-TTT-CCA c.1606_1608delinsTGG p.K536W Missense 16/19 - 1
X-100609641-TTT-GTC c.1606_1608delinsGAC p.K536D Missense 16/19 - 1
X-100609642-T-A c.1607A>T p.K536I Missense 16/19 - 2
X-100609642-T-C c.1607A>G p.K536R Missense 16/19 - 4
X-100609642-T-G c.1607A>C p.K536T Missense 16/19 - 2
X-100609642-TT-AC c.1606_1607delinsGT p.K536V Missense 16/19 - 1
X-100609642-TT-AG c.1606_1607delinsCT p.K536L Missense 16/19 - 1
X-100609642-TT-CC c.1606_1607delinsGG p.K536G Missense 16/19 - 1
X-100609642-TT-GC c.1606_1607delinsGC p.K536A Missense 16/19 - 1
X-100609642-TT-GG c.1606_1607delinsCC p.K536P Missense 16/19 - 1
X-100609643-T-C c.1606A>G p.K536E Missense 16/19 - 2
X-100609643-T-G c.1606A>C p.K536Q Missense 16/19 - 2
X-100609644-AAC-CAT c.1603_1605delinsATG p.V535M Missense 16/19 - 1
X-100609644-AAC-CCA c.1603_1605delinsTGG p.V535W Missense 16/19 - 1
X-100609644-AAC-CTT c.1603_1605delinsAAG p.V535K Missense 16/19 - 1
X-100609644-AA-CT c.1604_1605delinsAG p.V535E Missense 16/19 - 1
X-100609644-AAC-TTG c.1603_1605delinsCAA p.V535Q Missense 16/19 - 1
X-100609645-A-C c.1604T>G p.V535G Missense 16/19 - 2
X-100609645-AC-CA c.1603_1604delinsTG p.V535C Missense 16/19 - 1
X-100609645-AC-CG c.1603_1604delinsCG p.V535R Missense 16/19 - 1
X-100609645-AC-CT c.1603_1604delinsAG p.V535S Missense 16/19 - 1
X-100609645-AC-GG c.1603_1604delinsCC p.V535P Missense 16/19 - 1
X-100609645-AC-GT c.1603_1604inv p.V535T Missense 16/19 - 1
X-100609645-AC-TA c.1603_1604delinsTA p.V535Y Missense 16/19 - 1
X-100609645-AC-TG c.1603_1604delinsCA p.V535H Missense 16/19 - 1
X-100609645-AC-TT c.1603_1604delinsAA p.V535N Missense 16/19 - 1
X-100609645-A-G c.1604T>C p.V535A Missense 16/19 - 3
X-100609645-A-T c.1604T>A p.V535D Missense 16/19 - 2
X-100609646-C-A c.1603G>T p.V535F Missense 16/19 - 7
X-100609646-C-G c.1603G>C p.V535L Missense 16/19 - 2
X-100609646-C-T c.1603G>A p.V535I Missense 16/19 - 2
X-100609647-AAC-CAT c.1600_1602delinsATG p.V534M Missense 16/19 - 1
X-100609647-AAC-CCA c.1600_1602delinsTGG p.V534W Missense 16/19 - 1
X-100609647-AAC-CTT c.1600_1602delinsAAG p.V534K Missense 16/19 - 1
X-100609647-AA-CT c.1601_1602delinsAG p.V534E Missense 16/19 - 1
X-100609647-AAC-TTG c.1600_1602delinsCAA p.V534Q Missense 16/19 - 1
X-100609648-A-C c.1601T>G p.V534G Missense 16/19 - 2
X-100609648-AC-CA c.1600_1601delinsTG p.V534C Missense 16/19 - 1
X-100609648-AC-CG c.1600_1601delinsCG p.V534R Missense 16/19 - 1
X-100609648-AC-CT c.1600_1601delinsAG p.V534S Missense 16/19 - 1
X-100609648-AC-GG c.1600_1601delinsCC p.V534P Missense 16/19 - 1
X-100609648-AC-GT c.1600_1601inv p.V534T Missense 16/19 - 1
X-100609648-AC-TA c.1600_1601delinsTA p.V534Y Missense 16/19 - 1
X-100609648-AC-TG c.1600_1601delinsCA p.V534H Missense 16/19 - 1
X-100609648-AC-TT c.1600_1601delinsAA p.V534N Missense 16/19 - 1
X-100609648-A-G c.1601T>C p.V534A Missense 16/19 - 2
X-100609648-A-T c.1601T>A p.V534D Missense 16/19 - 2
X-100609649-C-A c.1600G>T p.V534F Missense 16/19 - 2
X-100609649-C-G c.1600G>C p.V534L Missense 16/19 - 2
X-100609649-C-T c.1600G>A p.V534I Missense 16/19 - 3
X-100609650-T-A c.1599A>T p.G533= Synonymous 16/19 - 1
X-100609650-TCC-AAA c.1597_1599delinsTTT p.G533F Missense 16/19 - 1
X-100609650-TCC-ACA c.1597_1599delinsTGT p.G533C Missense 16/19 - 1
X-100609650-TCC-ATA c.1597_1599delinsTAT p.G533Y Missense 16/19 - 1
X-100609650-TCC-ATG c.1597_1599delinsCAT p.G533H Missense 16/19 - 1
X-100609650-TCC-CAT c.1597_1599delinsATG p.G533M Missense 16/19 - 1
X-100609650-TCC-CCA c.1597_1599delinsTGG p.G533W Missense 16/19 - 1
X-100609650-TCC-GCT c.1597_1599delinsAGC p.G533S Missense 16/19 - 2
X-100609650-TCC-GTT c.1597_1599delinsAAC p.G533N Missense 16/19 - 1
X-100609650-TC-GT c.1598_1599delinsAC p.G533D Missense 16/19 - 1
X-100609651-C-A c.1598G>T p.G533V Missense 16/19 - 2
X-100609651-CC-AG c.1597_1598delinsCT p.G533L Missense 16/19 - 1
X-100609651-CC-AT c.1597_1598delinsAT p.G533I Missense 16/19 - 1
X-100609651-CC-GG c.1597_1598inv p.G533P Missense 16/19 - 1
X-100609651-CC-GT c.1597_1598delinsAC p.G533T Missense 16/19 - 1
X-100609651-CC-TG c.1597_1598delinsCA p.G533Q Missense 16/19 - 1
X-100609651-CC-TT c.1597_1598delinsAA p.G533K Missense 16/19 - 1
X-100609651-C-G c.1598G>C p.G533A Missense 16/19 - 3
X-100609651-C-T c.1598G>A p.G533E Missense 16/19 - 2
X-100609652-C-A c.1597G>T p.G533* Nonsense 16/19 - 1
X-100609652-C-G c.1597G>C p.G533R Missense 16/19 - 2
X-100609652-C-T c.1597G>A p.G533R Missense 16/19 - 2
X-100609653-T-A c.1596A>T p.Q532H Missense 16/19 - 2
X-100609653-T-G c.1596A>C p.Q532H Missense 16/19 - 2
X-100609653-TTG-AAA c.1594_1596delinsTTT p.Q532F Missense 16/19 - 1
X-100609653-TTG-ACA c.1594_1596delinsTGT p.Q532C Missense 16/19 - 1
X-100609653-TTG-ATA c.1594_1596delinsTAT p.Q532Y Missense 16/19 - 1
X-100609653-TTG-CAT c.1594_1596delinsATG p.Q532M Missense 16/19 - 1
X-100609653-TTG-CCA c.1594_1596delinsTGG p.Q532W Missense 16/19 - 1
X-100609653-TTG-GTC c.1594_1596delinsGAC p.Q532D Missense 16/19 - 1
X-100609653-TTG-GTT c.1594_1596delinsAAC p.Q532N Missense 16/19 - 1
X-100609654-T-A c.1595A>T p.Q532L Missense 16/19 - 2
X-100609654-T-C c.1595A>G p.Q532R Missense 16/19 - 2
X-100609654-T-G c.1595A>C p.Q532P Missense 16/19 - 2
X-100609654-TG-AC c.1594_1595delinsGT p.Q532V Missense 16/19 - 1
X-100609654-TG-AT c.1594_1595delinsAT p.Q532I Missense 16/19 - 1
X-100609654-TG-CC c.1594_1595delinsGG p.Q532G Missense 16/19 - 1
X-100609654-TG-GA c.1594_1595delinsTC p.Q532S Missense 16/19 - 1
X-100609654-TG-GC c.1594_1595delinsGC p.Q532A Missense 16/19 - 1
X-100609654-TG-GT c.1594_1595delinsAC p.Q532T Missense 16/19 - 1
X-100609655-G-A c.1594C>T p.Q532* Nonsense 16/19 - 2
X-100609655-G-C c.1594C>G p.Q532E Missense 16/19 - 4
X-100609655-G-T c.1594C>A p.Q532K Missense 16/19 - 2
X-100609656-A-C c.1593T>G p.D531E Missense 16/19 - 3
X-100609656-A-T c.1593T>A p.D531E Missense 16/19 - 3
X-100609656-ATC-CAT c.1591_1593delinsATG p.D531M Missense 16/19 - 1
X-100609656-ATC-CCA c.1591_1593delinsTGG p.D531W Missense 16/19 - 1
X-100609656-ATC-CTT c.1591_1593delinsAAG p.D531K Missense 16/19 - 1
X-100609656-ATC-TTG c.1591_1593delinsCAA p.D531Q Missense 16/19 - 1
X-100609657-T-A c.1592A>T p.D531V Missense 16/19 - 2
X-100609657-T-C c.1592A>G p.D531G Missense 16/19 - 2
X-100609657-TC-AA c.1591_1592delinsTT p.D531F Missense 16/19 - 1
X-100609657-TC-AG c.1591_1592delinsCT p.D531L Missense 16/19 - 1
X-100609657-TC-AT c.1591_1592delinsAT p.D531I Missense 16/19 - 1
X-100609657-TC-CA c.1591_1592delinsTG p.D531C Missense 16/19 - 1
X-100609657-TC-CG c.1591_1592delinsCG p.D531R Missense 16/19 - 1
X-100609657-TC-CT c.1591_1592delinsAG p.D531S Missense 16/19 - 1
X-100609657-TC-GG c.1591_1592delinsCC p.D531P Missense 16/19 - 1
X-100609657-TC-GT c.1591_1592delinsAC p.D531T Missense 16/19 - 1
X-100609657-T-G c.1592A>C p.D531A Missense 16/19 - 2
X-100609658-C-A c.1591G>T p.D531Y Missense 16/19 - 2
X-100609658-C-G c.1591G>C p.D531H Missense 16/19 - 2
X-100609658-C-T c.1591G>A p.D531N Missense 16/19 - 4
X-100609659-G-A c.1590C>T p.N530= Synonymous 16/19 - 2
X-100609659-G-C c.1590C>G p.N530K Missense 16/19 - 2
X-100609659-G-T c.1590C>A p.N530K Missense 16/19 - 2
X-100609659-GT-CA c.1589_1590delinsTG p.N530M Missense 16/19 - 1
X-100609659-GT-CC c.1589_1590delinsGG p.N530R Missense 16/19 - 1
X-100609659-GTT-CCA c.1588_1590delinsTGG p.N530W Missense 16/19 - 1
X-100609659-GTT-CTC c.1588_1590delinsGAG p.N530E Missense 16/19 - 1
X-100609659-GTT-TTG c.1588_1590delinsCAA p.N530Q Missense 16/19 - 1
X-100609660-T-A c.1589A>T p.N530I Missense 16/19 - 2
X-100609660-T-C c.1589A>G p.N530S Missense 16/19 - 2
X-100609660-T-G c.1589A>C p.N530T Missense 16/19 - 2
X-100609660-TT-AA c.1588_1589inv p.N530F Missense 16/19 - 1
X-100609660-TT-AC c.1588_1589delinsGT p.N530V Missense 16/19 - 1
X-100609660-TT-AG c.1588_1589delinsCT p.N530L Missense 16/19 - 1
X-100609660-TT-CA c.1588_1589delinsTG p.N530C Missense 16/19 - 1
X-100609660-TT-CC c.1588_1589delinsGG p.N530G Missense 16/19 - 1
X-100609660-TT-GC c.1588_1589delinsGC p.N530A Missense 16/19 - 1
X-100609660-TT-GG c.1588_1589delinsCC p.N530P Missense 16/19 - 1
X-100609661-T-A c.1588A>T p.N530Y Missense 16/19 - 2
X-100609661-T-C c.1588A>G p.N530D Missense 16/19 - 2
X-100609661-T-G c.1588A>C p.N530H Missense 16/19 - 2
X-100609662-TAC-AAA c.1585_1587delinsTTT p.V529F Missense 16/19 - 1
X-100609662-TAC-ACA c.1585_1587delinsTGT p.V529C Missense 16/19 - 1
X-100609662-TAC-ATA c.1585_1587delinsTAT p.V529Y Missense 16/19 - 1
X-100609662-TAC-ATG c.1585_1587delinsCAT p.V529H Missense 16/19 - 1
X-100609662-TAC-CAT c.1585_1587delinsATG p.V529M Missense 16/19 - 1
X-100609662-TAC-CCA c.1585_1587delinsTGG p.V529W Missense 16/19 - 1
X-100609662-TAC-GTT c.1585_1587delinsAAC p.V529N Missense 16/19 - 1
X-100609662-TA-GT c.1586_1587delinsAC p.V529D Missense 16/19 - 1
X-100609663-A-C c.1586T>G p.V529G Missense 16/19 - 2
X-100609663-AC-CT c.1585_1586delinsAG p.V529R Missense 16/19 - 1
X-100609663-AC-GA c.1585_1586delinsTC p.V529S Missense 16/19 - 1
X-100609663-AC-GG c.1585_1586delinsCC p.V529P Missense 16/19 - 1
X-100609663-AC-GT c.1585_1586inv p.V529T Missense 16/19 - 1
X-100609663-AC-TG c.1585_1586delinsCA p.V529Q Missense 16/19 - 1
X-100609663-AC-TT c.1585_1586delinsAA p.V529K Missense 16/19 - 1
X-100609663-A-G c.1586T>C p.V529A Missense 16/19 - 2
X-100609663-A-T c.1586T>A p.V529E Missense 16/19 - 2
X-100609664-C-A c.1585G>T p.V529L Missense 16/19 - 2
X-100609664-C-G c.1585G>C p.V529L Missense 16/19 - 2
X-100609664-C-T c.1585G>A p.V529I Missense 16/19 - 2
X-100609665-C-A c.1584G>T p.L528F Missense 16/19 - 6
X-100609665-CAA-ATG c.1582_1584delinsCAT p.L528H Missense 16/19 - 1
X-100609665-CA-AC c.1583_1584delinsGT p.L528C Missense 16/19 - 1
X-100609665-CAA-GAT c.1582_1584delinsATC p.L528I Missense 16/19 - 1
X-100609665-CAA-GTC c.1582_1584delinsGAC p.L528D Missense 16/19 - 1
X-100609665-CAA-GTT c.1582_1584delinsAAC p.L528N Missense 16/19 - 1
X-100609665-CA-AT c.1583_1584delinsAT p.L528Y Missense 16/19 - 1
X-100609665-C-G c.1584G>C p.L528F Missense 16/19 - 2
X-100609666-AA-CC c.1582_1583delinsGG p.L528G Missense 16/19 - 1
X-100609666-AA-CT c.1582_1583delinsAG p.L528R Missense 16/19 - 1
X-100609666-AA-GC c.1582_1583delinsGC p.L528A Missense 16/19 - 1
X-100609666-AA-GG c.1582_1583delinsCC p.L528P Missense 16/19 - 1
X-100609666-AA-GT c.1582_1583delinsAC p.L528T Missense 16/19 - 1
X-100609666-AA-TC c.1582_1583delinsGA p.L528E Missense 16/19 - 1
X-100609666-AA-TG c.1582_1583delinsCA p.L528Q Missense 16/19 - 1
X-100609666-AA-TT c.1582_1583inv p.L528K Missense 16/19 - 1
X-100609666-A-C c.1583T>G p.L528W Missense 16/19 - 36
X-100609666-A-G c.1583T>C p.L528S Missense 16/19 - 2
X-100609664-CCAAA-C c.1581_1584del p.C527Wfs*2 Frameshift 16/19 - 7
X-100609665-C-T c.1584G>A p.L528= Synonymous 16/19 - 1
X-100609667-A-C c.1582T>G p.L528V Missense 16/19 - 2
X-100609667-A-G c.1582T>C p.L528= Synonymous 16/19 - 1
X-100609667-A-T c.1582T>A p.L528M Missense 16/19 - 2
X-100609668-A-C c.1581T>G p.C527W Missense 16/19 - 2
X-100609668-ACA-CAT c.1579_1581delinsATG p.C527M Missense 16/19 - 1
X-100609668-ACA-CTC c.1579_1581delinsGAG p.C527E Missense 16/19 - 1
X-100609668-ACA-CTT c.1579_1581delinsAAG p.C527K Missense 16/19 - 1
X-100609668-ACA-TTG c.1579_1581delinsCAA p.C527Q Missense 16/19 - 1
X-100609669-C-A c.1580G>T p.C527F Missense 16/19 - 2
X-100609669-CA-AC c.1579_1580delinsGT p.C527V Missense 16/19 - 1
X-100609669-CA-AG c.1579_1580delinsCT p.C527L Missense 16/19 - 1
X-100609669-CA-AT c.1579_1580delinsAT p.C527I Missense 16/19 - 1
X-100609669-CA-GC c.1579_1580delinsGC p.C527A Missense 16/19 - 1
X-100609669-CA-GG c.1579_1580delinsCC p.C527P Missense 16/19 - 1
X-100609669-CA-GT c.1579_1580delinsAC p.C527T Missense 16/19 - 1
X-100609669-CA-TC c.1579_1580delinsGA p.C527D Missense 16/19 - 1
X-100609669-CA-TG c.1579_1580inv p.C527H Missense 16/19 - 1
X-100609669-CA-TT c.1579_1580delinsAA p.C527N Missense 16/19 - 1
X-100609669-C-T c.1580G>A p.C527Y Missense 16/19 - 2
X-100609669-C-G c.1580G>C p.C527S Missense 16/19 - 6
X-100609670-A-C c.1579T>G p.C527G Missense 16/19 - 2
X-100609670-A-G c.1579T>C p.C527R Missense 16/19 - 2
X-100609670-A-T c.1579T>A p.C527S Missense 16/19 - 3
X-100609671-AG-A c.1578del p.C527Vfs*3 Frameshift 16/19 - 1
X-100609671-G-C c.1578C>G p.N526K Missense 16/19 - 6
X-100609671-G-T c.1578C>A p.N526K Missense 16/19 - 5
X-100609671-GT-CA c.1577_1578delinsTG p.N526M Missense 16/19 - 1
X-100609671-GT-CC c.1577_1578delinsGG p.N526R Missense 16/19 - 1
X-100609671-GTT-CCA c.1576_1578delinsTGG p.N526W Missense 16/19 - 1
X-100609671-GTT-CTC c.1576_1578delinsGAG p.N526E Missense 16/19 - 1
X-100609671-GTT-TTG c.1576_1578delinsCAA p.N526Q Missense 16/19 - 1
X-100609672-T-A c.1577A>T p.N526I Missense 16/19 - 2
X-100609672-T-C c.1577A>G p.N526S Missense 16/19 - 2
X-100609672-T-G c.1577A>C p.N526T Missense 16/19 - 3
X-100609672-TT-AA c.1576_1577inv p.N526F Missense 16/19 - 1
X-100609672-TT-AC c.1576_1577delinsGT p.N526V Missense 16/19 - 1
X-100609672-TT-AG c.1576_1577delinsCT p.N526L Missense 16/19 - 1
X-100609672-TT-CA c.1576_1577delinsTG p.N526C Missense 16/19 - 1
X-100609672-TT-CC c.1576_1577delinsGG p.N526G Missense 16/19 - 1
X-100609672-TT-GC c.1576_1577delinsGC p.N526A Missense 16/19 - 1
X-100609672-TT-GG c.1576_1577delinsCC p.N526P Missense 16/19 - 1
X-100609673-T-A c.1576A>T p.N526Y Missense 16/19 - 2
X-100609673-T-C c.1576A>G p.N526D Missense 16/19 - 2
X-100609673-T-G c.1576A>C p.N526H Missense 16/19 - 2
X-100609671-G-GT c.1577dup p.N526Kfs*11 Frameshift 16/19 - 1
X-100609674-TC-AT c.1574_1575delinsAT p.R525H Missense 16/19 - 2
X-100609674-TCG-AAA c.1573_1575delinsTTT p.R525F Missense 16/19 - 1
X-100609674-TCG-ACA c.1573_1575delinsTGT p.R525C Missense 16/19 - 2
X-100609674-TCG-ATA c.1573_1575delinsTAT p.R525Y Missense 16/19 - 1
X-100609674-TCG-CAT c.1573_1575delinsATG p.R525M Missense 16/19 - 1
X-100609674-TCG-CCA c.1573_1575delinsTGG p.R525W Missense 16/19 - 1
X-100609674-TCG-GCT c.1573_1575delinsAGC p.R525S Missense 16/19 - 1
X-100609674-TCG-GTC c.1573_1575delinsGAC p.R525D Missense 16/19 - 1
X-100609674-TCG-GTT c.1573_1575delinsAAC p.R525N Missense 16/19 - 1
X-100609675-C-A c.1574G>T p.R525L Missense 16/19 - 3
X-100609675-C-G c.1574G>C p.R525P Missense 16/19 - 11
X-100609675-CG-AC c.1573_1574delinsGT p.R525V Missense 16/19 - 1
X-100609675-CG-AT c.1573_1574delinsAT p.R525I Missense 16/19 - 2
X-100609675-CG-GC c.1573_1574delinsGC p.R525A Missense 16/19 - 1
X-100609675-CG-GT c.1573_1574delinsAC p.R525T Missense 16/19 - 1
X-100609675-CG-TC c.1573_1574delinsGA p.R525E Missense 16/19 - 1
X-100609675-CG-TT c.1573_1574delinsAA p.R525K Missense 16/19 - 2
X-100609675-C-T c.1574G>A p.R525Q Missense 16/19 - 23
X-100609676-G-A c.1573C>T p.R525* Nonsense 16/19 - 6
X-100609676-G-C c.1573C>G p.R525G Missense 16/19 - 9
X-100609677-AGC-CAT c.1570_1572delinsATG p.A524M Missense 16/19 - 1
X-100609677-AGC-CCA c.1570_1572delinsTGG p.A524W Missense 16/19 - 1
X-100609677-AGC-CTT c.1570_1572delinsAAG p.A524K Missense 16/19 - 1
X-100609677-AG-CT c.1571_1572inv p.A524E Missense 16/19 - 1
X-100609677-AGC-TTG c.1570_1572delinsCAA p.A524Q Missense 16/19 - 1
X-100609678-G-A c.1571C>T p.A524V Missense 16/19 - 5
X-100609678-G-C c.1571C>G p.A524G Missense 16/19 - 2
X-100609678-GC-AA c.1570_1571delinsTT p.A524F Missense 16/19 - 1
X-100609678-GC-AG c.1570_1571delinsCT p.A524L Missense 16/19 - 1
X-100609678-GC-AT c.1570_1571delinsAT p.A524I Missense 16/19 - 1
X-100609678-GC-CA c.1570_1571delinsTG p.A524C Missense 16/19 - 1
X-100609678-GC-CG c.1570_1571delinsCG p.A524R Missense 16/19 - 1
X-100609678-GC-TA c.1570_1571delinsTA p.A524Y Missense 16/19 - 1
X-100609678-GC-TG c.1570_1571delinsCA p.A524H Missense 16/19 - 1
X-100609678-GC-TT c.1570_1571delinsAA p.A524N Missense 16/19 - 1
X-100609678-G-T c.1571C>A p.A524D Missense 16/19 - 2
X-100609679-C-A c.1570G>T p.A524S Missense 16/19 - 2
X-100609679-C-G c.1570G>C p.A524P Missense 16/19 - 3
X-100609679-C-T c.1570G>A p.A524T Missense 16/19 - 2
X-100609680-TGC-AAA c.1567_1569delinsTTT p.A523F Missense 16/19 - 1
X-100609680-TGC-ACA c.1567_1569delinsTGT p.A523C Missense 16/19 - 1
X-100609680-TGC-ATA c.1567_1569delinsTAT p.A523Y Missense 16/19 - 1
X-100609680-TGC-ATG c.1567_1569delinsCAT p.A523H Missense 16/19 - 1
X-100609680-TGC-CAT c.1567_1569delinsATG p.A523M Missense 16/19 - 1
X-100609680-TGC-CCA c.1567_1569delinsTGG p.A523W Missense 16/19 - 1
X-100609680-TGC-GTT c.1567_1569delinsAAC p.A523N Missense 16/19 - 1
X-100609680-TG-GT c.1568_1569delinsAC p.A523D Missense 16/19 - 1
X-100609681-G-A c.1568C>T p.A523V Missense 16/19 - 4
X-100609681-G-C c.1568C>G p.A523G Missense 16/19 - 2
X-100609681-GC-AG c.1567_1568delinsCT p.A523L Missense 16/19 - 1
X-100609681-GC-AT c.1567_1568delinsAT p.A523I Missense 16/19 - 1
X-100609681-GC-CT c.1567_1568delinsAG p.A523R Missense 16/19 - 1
X-100609681-GC-TG c.1567_1568delinsCA p.A523Q Missense 16/19 - 1
X-100609681-GC-TT c.1567_1568delinsAA p.A523K Missense 16/19 - 1
X-100609681-G-T c.1568C>A p.A523E Missense 16/19 - 5
X-100609682-C-A c.1567G>T p.A523S Missense 16/19 - 2
X-100609682-C-G c.1567G>C p.A523P Missense 16/19 - 2
X-100609682-C-T c.1567G>A p.A523T Missense 16/19 - 2
X-100610632-A-T c.1566+408T>A - IntronicSNV - 15/18 1
X-100610904-C-T c.1566+136G>A - IntronicSNV - 15/18 1
X-100610934-G-A c.1566+106C>T - IntronicSNV - 15/18 1
X-100610986-G-T c.1566+54C>A - IntronicSNV - 15/18 1
X-100611038-A-G c.1566+2T>C - IntronicSNV - 15/18 1
X-100611038-A-T c.1566+2T>A - IntronicSNV - 15/18 1
X-100611040-CA-AT c.1565_1566delinsAT p.L522H Missense 15/19 - 1
X-100611040-CAG-AAA c.1564_1566delinsTTT p.L522F Missense 15/19 - 1
X-100611040-CAG-ACA c.1564_1566delinsTGT p.L522C Missense 15/19 - 1
X-100611040-CAG-ATA c.1564_1566delinsTAT p.L522Y Missense 15/19 - 1
X-100611040-CAG-GAT c.1564_1566delinsATC p.L522I Missense 15/19 - 1
X-100611040-CAG-GTC c.1564_1566delinsGAC p.L522D Missense 15/19 - 1
X-100611040-CAG-GTT c.1564_1566delinsAAC p.L522N Missense 15/19 - 1
X-100611041-A-C c.1565T>G p.L522R Missense 15/19 - 2
X-100611041-A-G c.1565T>C p.L522P Missense 15/19 - 3
X-100611041-AG-CA c.1564_1565delinsTG p.L522W Missense 15/19 - 1
X-100611041-AG-CC c.1564_1565delinsGG p.L522G Missense 15/19 - 1
X-100611041-AG-GA c.1564_1565delinsTC p.L522S Missense 15/19 - 1
X-100611041-AG-GC c.1564_1565delinsGC p.L522A Missense 15/19 - 1
X-100611041-AG-GT c.1564_1565delinsAC p.L522T Missense 15/19 - 1
X-100611041-AG-TC c.1564_1565delinsGA p.L522E Missense 15/19 - 1
X-100611041-AG-TT c.1564_1565delinsAA p.L522K Missense 15/19 - 1
X-100611041-A-T c.1565T>A p.L522Q Missense 15/19 - 2
X-100611042-G-A c.1564C>T p.L522= Synonymous 15/19 - 1
X-100611042-G-C c.1564C>G p.L522V Missense 15/19 - 3
X-100611042-G-T c.1564C>A p.L522M Missense 15/19 - 2
X-100611043-G-C c.1563C>G p.D521E Missense 15/19 - 3
X-100611043-G-T c.1563C>A p.D521E Missense 15/19 - 3
X-100611043-GTC-CAT c.1561_1563delinsATG p.D521M Missense 15/19 - 1
X-100611043-GTC-CCA c.1561_1563delinsTGG p.D521W Missense 15/19 - 1
X-100611043-GTC-CTT c.1561_1563delinsAAG p.D521K Missense 15/19 - 1
X-100611043-GTC-TTG c.1561_1563delinsCAA p.D521Q Missense 15/19 - 1
X-100611044-T-A c.1562A>T p.D521V Missense 15/19 - 4
X-100611044-T-C c.1562A>G p.D521G Missense 15/19 - 6
X-100611044-TC-AA c.1561_1562delinsTT p.D521F Missense 15/19 - 1
X-100611044-TC-AG c.1561_1562delinsCT p.D521L Missense 15/19 - 1
X-100611044-TC-AT c.1561_1562delinsAT p.D521I Missense 15/19 - 1
X-100611044-TC-CA c.1561_1562delinsTG p.D521C Missense 15/19 - 1
X-100611044-TC-CG c.1561_1562delinsCG p.D521R Missense 15/19 - 1
X-100611044-TC-CT c.1561_1562delinsAG p.D521S Missense 15/19 - 1
X-100611044-TC-GG c.1561_1562delinsCC p.D521P Missense 15/19 - 1
X-100611044-TC-GT c.1561_1562delinsAC p.D521T Missense 15/19 - 1
X-100611044-T-G c.1562A>C p.D521A Missense 15/19 - 1
X-100611045-C-A c.1561G>T p.D521Y Missense 15/19 - 3
X-100611045-C-G c.1561G>C p.D521H Missense 15/19 - 6
X-100611045-C-T c.1561G>A p.D521N Missense 15/19 - 8
X-100611046-TC-AT c.1559_1560delinsAT p.R520H Missense 15/19 - 2
X-100611046-TCG-AAA c.1558_1560delinsTTT p.R520F Missense 15/19 - 1
X-100611046-TCG-ACA c.1558_1560delinsTGT p.R520C Missense 15/19 - 2
X-100611046-TCG-ATA c.1558_1560delinsTAT p.R520Y Missense 15/19 - 1
X-100611046-TCG-CAT c.1558_1560delinsATG p.R520M Missense 15/19 - 1
X-100611046-TCG-CCA c.1558_1560delinsTGG p.R520W Missense 15/19 - 2
X-100611046-TCG-GCT c.1558_1560delinsAGC p.R520S Missense 15/19 - 1
X-100611046-TCG-GTC c.1558_1560delinsGAC p.R520D Missense 15/19 - 1
X-100611046-TCG-GTT c.1558_1560delinsAAC p.R520N Missense 15/19 - 1
X-100611047-C-A c.1559G>T p.R520L Missense 15/19 - 3
X-100611047-C-G c.1559G>C p.R520P Missense 15/19 - 4
X-100611047-CG-AC c.1558_1559delinsGT p.R520V Missense 15/19 - 1
X-100611047-CG-AT c.1558_1559delinsAT p.R520I Missense 15/19 - 1
X-100611047-CG-GC c.1558_1559delinsGC p.R520A Missense 15/19 - 1
X-100611047-CG-GT c.1558_1559delinsAC p.R520T Missense 15/19 - 1
X-100611047-CG-TC c.1558_1559delinsGA p.R520E Missense 15/19 - 1
X-100611047-CG-TT c.1558_1559delinsAA p.R520K Missense 15/19 - 2
X-100611047-C-T c.1559G>A p.R520Q Missense 15/19 - 26
X-100611048-G-A c.1558C>T p.R520* Nonsense 15/19 - 8
X-100611048-G-C c.1558C>G p.R520G Missense 15/19 - 7
X-100611048-G-T c.1558C>A p.R520= Synonymous 15/19 - 2
X-100611049-G-C c.1557C>G p.H519Q Missense 15/19 - 4
X-100611049-G-T c.1557C>A p.H519Q Missense 15/19 - 4
X-100611049-GTG-CAT c.1555_1557delinsATG p.H519M Missense 15/19 - 1
X-100611049-GTG-CCA c.1555_1557delinsTGG p.H519W Missense 15/19 - 1
X-100611049-GTG-CTC c.1555_1557delinsGAG p.H519E Missense 15/19 - 1
X-100611049-GTG-CTT c.1555_1557delinsAAG p.H519K Missense 15/19 - 1
X-100611050-T-A c.1556A>T p.H519L Missense 15/19 - 2
X-100611050-T-C c.1556A>G p.H519R Missense 15/19 - 2
X-100611050-T-G c.1556A>C p.H519P Missense 15/19 - 2
X-100611050-TG-AA c.1555_1556delinsTT p.H519F Missense 15/19 - 1
X-100611050-TG-AC c.1555_1556delinsGT p.H519V Missense 15/19 - 1
X-100611050-TG-AT c.1555_1556delinsAT p.H519I Missense 15/19 - 1
X-100611050-TG-CA c.1555_1556inv p.H519C Missense 15/19 - 1
X-100611050-TG-CC c.1555_1556delinsGG p.H519G Missense 15/19 - 1
X-100611050-TG-CT c.1555_1556delinsAG p.H519S Missense 15/19 - 1
X-100611050-TG-GC c.1555_1556delinsGC p.H519A Missense 15/19 - 2
X-100611050-TG-GT c.1555_1556delinsAC p.H519T Missense 15/19 - 1
X-100611051-G-A c.1555C>T p.H519Y Missense 15/19 - 3
X-100611051-G-C c.1555C>G p.H519D Missense 15/19 - 2
X-100611051-G-T c.1555C>A p.H519N Missense 15/19 - 3
X-100611052-AAG-CAT c.1552_1554delinsATG p.L518M Missense 15/19 - 1
X-100611052-AAG-CCA c.1552_1554delinsTGG p.L518W Missense 15/19 - 1
X-100611052-AAG-CTC c.1552_1554delinsGAG p.L518E Missense 15/19 - 1
X-100611052-AAG-CTT c.1552_1554inv p.L518K Missense 15/19 - 1
X-100611052-AA-TT c.1553_1554inv p.L518Q Missense 15/19 - 1
X-100611053-A-C c.1553T>G p.L518R Missense 15/19 - 4
X-100611053-A-G c.1553T>C p.L518P Missense 15/19 - 3
X-100611053-AG-CA c.1552_1553delinsTG p.L518C Missense 15/19 - 1
X-100611053-AG-CC c.1552_1553delinsGG p.L518G Missense 15/19 - 1
X-100611053-AG-CT c.1552_1553inv p.L518S Missense 15/19 - 1
X-100611053-AG-GC c.1552_1553delinsGC p.L518A Missense 15/19 - 1
X-100611053-AG-GT c.1552_1553delinsAC p.L518T Missense 15/19 - 1
X-100611053-AG-TA c.1552_1553delinsTA p.L518Y Missense 15/19 - 1
X-100611053-AG-TC c.1552_1553delinsGA p.L518D Missense 15/19 - 1
X-100611053-AG-TT c.1552_1553delinsAA p.L518N Missense 15/19 - 1
X-100611053-A-T c.1553T>A p.L518H Missense 15/19 - 2
X-100611054-G-A c.1552C>T p.L518F Missense 15/19 - 2
X-100611054-G-C c.1552C>G p.L518V Missense 15/19 - 2
X-100611054-G-T c.1552C>A p.L518I Missense 15/19 - 2
X-100611055-GAA-CAT c.1549_1551delinsATG p.F517M Missense 15/19 - 1
X-100611055-GAA-CTC c.1549_1551delinsGAG p.F517E Missense 15/19 - 1
X-100611055-GAA-CTT c.1549_1551delinsAAG p.F517K Missense 15/19 - 1
X-100611055-GAA-TTG c.1549_1551delinsCAA p.F517Q Missense 15/19 - 1
X-100611055-GA-CC c.1550_1551delinsGG p.F517W Missense 15/19 - 1
X-100611056-AA-CC c.1549_1550delinsGG p.F517G Missense 15/19 - 1
X-100611056-AA-CG c.1549_1550delinsCG p.F517R Missense 15/19 - 1
X-100611056-AA-GC c.1549_1550delinsGC p.F517A Missense 15/19 - 1
X-100611056-AA-GG c.1549_1550delinsCC p.F517P Missense 15/19 - 1
X-100611056-AA-GT c.1549_1550delinsAC p.F517T Missense 15/19 - 1
X-100611056-AA-TC c.1549_1550delinsGA p.F517D Missense 15/19 - 1
X-100611056-AA-TG c.1549_1550delinsCA p.F517H Missense 15/19 - 1
X-100611056-AA-TT c.1549_1550inv p.F517N Missense 15/19 - 1
X-100611056-A-C c.1550T>G p.F517C Missense 15/19 - 2
X-100611056-A-G c.1550T>C p.F517S Missense 15/19 - 2
X-100611056-A-T c.1550T>A p.F517Y Missense 15/19 - 2
X-100611055-G-C c.1551C>G p.F517L Missense 15/19 - 7
X-100611055-G-T c.1551C>A p.F517L Missense 15/19 - 7
X-100611057-A-C c.1549T>G p.F517V Missense 15/19 - 2
X-100611057-A-G c.1549T>C p.F517L Missense 15/19 - 7
X-100611057-A-T c.1549T>A p.F517I Missense 15/19 - 2
X-100611058-C-A c.1548G>T p.Q516H Missense 15/19 - 2
X-100611058-C-G c.1548G>C p.Q516H Missense 15/19 - 2
X-100611058-C-T c.1548G>A p.Q516= Synonymous 15/19 - 3
X-100611058-CTG-AAA c.1546_1548delinsTTT p.Q516F Missense 15/19 - 1
X-100611058-CTG-ACA c.1546_1548delinsTGT p.Q516C Missense 15/19 - 1
X-100611058-CTG-ATA c.1546_1548delinsTAT p.Q516Y Missense 15/19 - 1
X-100611058-CTG-GAT c.1546_1548delinsATC p.Q516I Missense 15/19 - 1
X-100611058-CTG-GTC c.1546_1548delinsGAC p.Q516D Missense 15/19 - 1
X-100611058-CTG-GTT c.1546_1548delinsAAC p.Q516N Missense 15/19 - 1
X-100611059-T-A c.1547A>T p.Q516L Missense 15/19 - 2
X-100611059-T-C c.1547A>G p.Q516R Missense 15/19 - 2
X-100611059-T-G c.1547A>C p.Q516P Missense 15/19 - 2
X-100611059-TG-AC c.1546_1547delinsGT p.Q516V Missense 15/19 - 1
X-100611059-TG-AT c.1546_1547delinsAT p.Q516M Missense 15/19 - 1
X-100611059-TG-CA c.1546_1547inv p.Q516W Missense 15/19 - 1
X-100611059-TG-CC c.1546_1547delinsGG p.Q516G Missense 15/19 - 1
X-100611059-TG-GA c.1546_1547delinsTC p.Q516S Missense 15/19 - 1
X-100611059-TG-GC c.1546_1547delinsGC p.Q516A Missense 15/19 - 1
X-100611059-TG-GT c.1546_1547delinsAC p.Q516T Missense 15/19 - 1
X-100611060-G-A c.1546C>T p.Q516* Nonsense 15/19 - 1
X-100611060-G-C c.1546C>G p.Q516E Missense 15/19 - 2
X-100611060-G-T c.1546C>A p.Q516K Missense 15/19 - 5
X-100611061-C-A c.1545G>T p.K515N Missense 15/19 - 3
X-100611061-C-G c.1545G>C p.K515N Missense 15/19 - 3
X-100611061-CT-GA c.1544_1545delinsTC p.K515I Missense 15/19 - 1
X-100611061-CT-GC c.1544_1545delinsGC p.K515S Missense 15/19 - 1
X-100611061-CTT-AAA c.1543_1545delinsTTT p.K515F Missense 15/19 - 1
X-100611061-CTT-ACA c.1543_1545delinsTGT p.K515C Missense 15/19 - 1
X-100611061-CTT-ATA c.1543_1545delinsTAT p.K515Y Missense 15/19 - 1
X-100611061-CTT-ATG c.1543_1545delinsCAT p.K515H Missense 15/19 - 1
X-100611061-CTT-GTC c.1543_1545delinsGAC p.K515D Missense 15/19 - 1
X-100611062-T-A c.1544A>T p.K515M Missense 15/19 - 2
X-100611062-T-C c.1544A>G p.K515R Missense 15/19 - 2
X-100611062-T-G c.1544A>C p.K515T Missense 15/19 - 2
X-100611062-TT-AC c.1543_1544delinsGT p.K515V Missense 15/19 - 1
X-100611062-TT-AG c.1543_1544delinsCT p.K515L Missense 15/19 - 1
X-100611062-TT-CA c.1543_1544delinsTG p.K515W Missense 15/19 - 1
X-100611062-TT-CC c.1543_1544delinsGG p.K515G Missense 15/19 - 1
X-100611062-TT-GC c.1543_1544delinsGC p.K515A Missense 15/19 - 1
X-100611062-TT-GG c.1543_1544delinsCC p.K515P Missense 15/19 - 1
X-100611063-T-C c.1543A>G p.K515E Missense 15/19 - 2
X-100611063-T-G c.1543A>C p.K515Q Missense 15/19 - 2
X-100611064-TG-AA c.1541_1542delinsTT p.S514F Missense 15/19 - 1
X-100611064-TGA-ATG c.1540_1542delinsCAT p.S514H Missense 15/19 - 1
X-100611064-TG-AC c.1541_1542delinsGT p.S514C Missense 15/19 - 1
X-100611064-TGA-CAT c.1540_1542delinsATG p.S514M Missense