CDH1 cadherin 1

Canonical transcript: NM_004360

1076 unique variant annotations were identified in 652 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
16-68771248-C-G c.-71C>G - 5-UTRSNV 1/16 - 2
16-68771265-G-C c.-54G>C - 5-UTRSNV 1/16 - 1
16-68771270-G-T c.-49G>T - 5-UTRSNV 1/16 - 1
16-68771319-A-G c.1A>G p.Met1? Missense 1/16 - 1
16-68771321-G-A c.3G>A p.Met1? Missense 1/16 - 3
16-68771321-G-C c.3G>C p.Met1? Missense 1/16 - 2
16-68771324-C-A c.6C>A p.Gly2Gly Synonymous 1/16 - 1
16-68771324-C-G c.6C>G p.Gly2Gly Synonymous 1/16 - 1
16-68771324-C-T c.6C>T p.Gly2Gly Synonymous 1/16 - 1
16-68771326-C-G c.8C>G p.Pro3Arg Missense 1/16 - 2
16-68771344-C-A c.26C>A p.Ser9* Nonsense 1/16 - 2
16-68771349-CTG-TGT c.31_33delinsTGT p.Leu11Cys Missense 1/16 - 1
16-68771349-GC-G c.31del p.Leu11Cysfs*45 Frameshift 1/16 - 1
16-68771353-T-C c.35T>C p.Leu12Pro Missense 1/16 - 1
16-68771355-CT-GC c.37_38delinsGC p.Leu13Ala Missense 1/16 - 2
16-68771356-CTGCTGCTGC-C c.38_46del p.Leu13_Leu15del InFrameDeletion 1/16 - 1
16-68771359-CTGCTGC-C c.41_46del p.Leu14_Leu15del InFrameDeletion 1/16 - 1
16-68771362-CTGC-C c.44_46del p.Leu15del InFrameDeletion 1/16 - 2
16-68771363-G-GT c.45_46insT p.Gln16Serfs*18 Frameshift 1/16 - 2
16-68771366-G-C c.48G>C p.Gln16His Missense 1/16 - 1
16-68771367-G-A c.48+1G>A - IntronicSNV - 1/15 3
16-68771368-T-C c.48+2T>C - IntronicSNV - 1/15 1
16-68771372-CC-TT c.48+6_48+7delinsTT - IntronicBlockSubstitution - 1/15 1
16-68771372-C-T c.48+6C>T - IntronicSNV - 1/15 22
16-68771373-C-T c.48+7C>T - IntronicSNV - 1/15 1
16-68771428-C-CCG c.48+62_48+63insCG - IntronicInsertion - 1/15 1
16-68771428-C-CCGTGCCCCAGCCC c.48+62_48+63insCGTGCCCCAGCCC - IntronicInsertion - 1/15 1
16-68771428-CCT-C c.48+62_48+63del - IntronicDeletion - 1/15 1
16-68771429-T-C c.48+63T>C - IntronicSNV - 1/15 1
16-68771431-C-T c.48+65C>T - IntronicSNV - 1/15 1
16-68771905-A-C c.49-295A>C - IntronicSNV - 1/15 1
16-68772139-T-G c.49-61T>G - IntronicSNV - 1/15 1
16-68772141-G-T c.49-59G>T - IntronicSNV - 1/15 1
16-68772198-A-C c.49-2A>C - IntronicSNV - 1/15 1
16-68772198-A-G c.49-2A>G - IntronicSNV - 1/15 3
16-68772198-A-T c.49-2A>T - IntronicSNV - 1/15 1
16-68772199-G-C c.49-1G>C - IntronicSNV - 1/15 1
16-68772202-TCTCCTCTTGGCTCTGCCAGGAGCCGGAGCCCTGCCACCCTGGCTTTGACGCCGAGAGCT-T c.51_109del p.Ser18Hisfs*21 Unclassified 2/16 - 1
16-68772203-T-G c.52T>G p.Ser18Ala Missense 2/16 - 1
16-68772205-C-A c.54C>A p.Ser18Ser Synonymous 2/16 - 1
16-68772206-TC-GA c.55_56inv p.Ser19Asp Missense 2/16 - 1
16-68772206-T-G c.55T>G p.Ser19Ala Missense 2/16 - 5
16-68772207-C-G c.56C>G p.Ser19Cys Missense 2/16 - 1
16-68772210-G-A c.59G>A p.Trp20* Nonsense 2/16 - 6
16-68772211-G-A c.60G>A p.Trp20* Nonsense 2/16 - 2
16-68772218-C-A c.67C>A p.Gln23Lys Missense 2/16 - 1
16-68772218-C-T c.67C>T p.Gln23* Nonsense 2/16 - 10
16-68772221-G-T c.70G>T p.Glu24* Nonsense 2/16 - 4
16-68772230-C-T c.79C>T p.Pro27Ser Missense 2/16 - 2
16-68772230-GCCCTGCC-G c.79_85del p.Pro27Thrfs*27 Frameshift 2/16 - 2
16-68772233-T-A c.82T>A p.Cys28Ser Missense 2/16 - 1
16-68772233-TG-GC c.82_83delinsGC p.Cys28Ala Missense 2/16 - 1
16-68772233-T-TA c.82_83insA p.Cys28* Nonsense 2/16 - 1
16-68772234-G-C c.83G>C p.Cys28Ser Missense 2/16 - 1
16-68772235-GCC-G c.84_85del p.Cys28* Frameshift 2/16 - 1
16-68772237-CA-C c.86del p.His29Profs*27 Frameshift 2/16 - 1
16-68772239-C-A c.88C>A p.Pro30Thr Missense 2/16 - 17
16-68772248-GAC-AAG c.97_99delinsAAG p.Asp33Lys Missense 2/16 - 1
16-68772251-G-T c.100G>T p.Ala34Ser Missense 2/16 - 1
16-68772252-C-G c.101C>G p.Ala34Gly Missense 2/16 - 1
16-68772254-G-T c.103G>T p.Glu35* Nonsense 2/16 - 1
16-68772256-G-A c.105G>A p.Glu35Glu Synonymous 2/16 - 1
16-68772261-A-AA c.110dup p.Tyr37* Nonsense 2/16 - 1
16-68772262-ACAC-A c.111_113del p.Tyr37_Thr38delins* MultiAAMissense 2/16 - 1
16-68772266-TT-GA c.115_116delinsGA p.Phe39Asp Missense 2/16 - 1
16-68772276-C-T c.125C>T p.Pro42Leu Missense 2/16 - 1
16-68772281-C-A c.130C>A p.Arg44Ser Missense 2/16 - 1
16-68772283-C-T c.132C>T p.Arg44Arg Synonymous 2/16 - 1
16-68772285-CACCTGGAGAGAGGCCGCGTCCTGGGCAGAGGTGAGGGCGCGCTGCCGGTGTCCCTGGGC-C c.134_163+29del - SpliceDonorDeletion 2/16 2/15 1
16-68772287-C-A c.136C>A p.Leu46Met Missense 2/16 - 1
16-68772287-C-G c.136C>G p.Leu46Val Missense 2/16 - 1
16-68772293-AGA-CAT c.142_144delinsCAT p.Arg48His Missense 2/16 - 1
16-68772297-G-C c.146G>C p.Gly49Ala Missense 2/16 - 2
16-68772300-G-A c.149G>A p.Arg50His UnclassifiedSNV 2/16 - 1
16-68772305-C-G c.154C>G p.Leu52Val Missense 2/16 - 1
16-68772305-C-T c.154C>T p.Leu52Leu Synonymous 2/16 - 1
16-68772311-A-G c.160A>G p.Arg54Gly Missense 2/16 - 2
16-68772311-AGA-TGT c.160_162delinsTGT p.Arg54Cys Missense 2/16 - 1
16-68772316-T-G c.163+2T>G - IntronicSNV - 2/15 1
16-68772371-G-A c.163+57G>A - IntronicSNV - 2/15 1
16-68772373-G-C c.163+59G>C - IntronicSNV - 2/15 1
16-68772681-G-C c.163+367G>C - IntronicSNV - 2/15 1
16-68772681-G-T c.163+367G>T - IntronicSNV - 2/15 1
16-68773860-C-G c.163+1546C>G - IntronicSNV - 2/15 2
16-68773860-C-T c.163+1546C>T - IntronicSNV - 2/15 2
16-68773912-C-T c.163+1598C>T - IntronicSNV - 2/15 1
16-68774168-C-G c.163+1854C>G - IntronicSNV - 2/15 4
16-68774168-C-T c.163+1854C>T - IntronicSNV - 2/15 4
16-68774283-T-C c.163+1969T>C - IntronicSNV - 2/15 3
16-68774800-G-C c.163+2486G>C - IntronicSNV - 2/15 5
16-68774800-G-T c.163+2486G>T - IntronicSNV - 2/15 5
16-68776246-G-A c.163+3932G>A - IntronicSNV - 2/15 1
16-68776416-G-A c.163+4102G>A - IntronicSNV - 2/15 1
16-68776416-G-C c.163+4102G>C - IntronicSNV - 2/15 1
16-68778457-C-T c.163+6143C>T - IntronicSNV - 2/15 5
16-68778858-A-C c.163+6544A>C - IntronicSNV - 2/15 1
16-68778996-G-A c.163+6682G>A - IntronicSNV - 2/15 6
16-68779452-A-T c.163+7138A>T - IntronicSNV - 2/15 1
16-68779514-A-G c.163+7200A>G - IntronicSNV - 2/15 1
16-68780069-G-A c.163+7755G>A - IntronicSNV - 2/15 1
16-68783671-C-T c.163+11357C>T - IntronicSNV - 2/15 2
16-68784587-G-A c.163+12273G>A - IntronicSNV - 2/15 4
16-68784587-G-C c.163+12273G>C - IntronicSNV - 2/15 4
16-68784587-G-T c.163+12273G>T - IntronicSNV - 2/15 4
16-68784603-T-C c.163+12289T>C - IntronicSNV - 2/15 1
16-68786748-C-G c.163+14434C>G - IntronicSNV - 2/15 2
16-68786748-C-T c.163+14434C>T - IntronicSNV - 2/15 2
16-68786857-C-T c.163+14543C>T - IntronicSNV - 2/15 1
16-68787529-C-T c.163+15215C>T - IntronicSNV - 2/15 1
16-68787875-G-A c.163+15561G>A - IntronicSNV - 2/15 1
16-68788909-G-T c.163+16595G>T - IntronicSNV - 2/15 3
16-68789445-G-A c.163+17131G>A - IntronicSNV - 2/15 1
16-68789445-G-T c.163+17131G>T - IntronicSNV - 2/15 1
16-68790394-G-A c.163+18080G>A - IntronicSNV - 2/15 9
16-68790502-C-T c.163+18188C>T - IntronicSNV - 2/15 6
16-68791183-G-A c.163+18869G>A - IntronicSNV - 2/15 1
16-68791183-G-C c.163+18869G>C - IntronicSNV - 2/15 1
16-68791231-A-G c.163+18917A>G - IntronicSNV - 2/15 1
16-68791306-C-A c.163+18992C>A - IntronicSNV - 2/15 2
16-68791306-C-G c.163+18992C>G - IntronicSNV - 2/15 2
16-68791644-C-G c.163+19330C>G - IntronicSNV - 2/15 1
16-68792093-T-C c.163+19779T>C - IntronicSNV - 2/15 1
16-68792093-T-G c.163+19779T>G - IntronicSNV - 2/15 1
16-68793683-C-T c.163+21369C>T - IntronicSNV - 2/15 2
16-68795374-C-T c.163+23060C>T - IntronicSNV - 2/15 2
16-68796746-A-G c.163+24432A>G - IntronicSNV - 2/15 5
16-68797893-C-A c.163+25579C>A - IntronicSNV - 2/15 2
16-68797893-C-T c.163+25579C>T - IntronicSNV - 2/15 2
16-68798682-A-G c.163+26368A>G - IntronicSNV - 2/15 1
16-68798682-A-T c.163+26368A>T - IntronicSNV - 2/15 1
16-68799611-A-G c.163+27297A>G - IntronicSNV - 2/15 1
16-68799611-A-T c.163+27297A>T - IntronicSNV - 2/15 1
16-68799944-T-C c.163+27630T>C - IntronicSNV - 2/15 1
16-68800035-G-A c.163+27721G>A - IntronicSNV - 2/15 1
16-68800035-G-C c.163+27721G>C - IntronicSNV - 2/15 1
16-68800452-T-C c.163+28138T>C - IntronicSNV - 2/15 2
16-68800643-TTTTTTTT-TTTTTTTTTTTTTTTT c.163+28329_163+28336dup - IntronicInsertion - 2/15 1
16-68800649-TT-TTTT c.163+28335_163+28336dup - IntronicInsertion - 2/15 1
16-68800650-T-TT c.163+28336dup - IntronicInsertion - 2/15 1
16-68800650-T-TTTTTTTTTTTTTTT c.163+28336_163+28337insTTTTTTTTTTTTTT - IntronicInsertion - 2/15 1
16-68800756-G-A c.163+28442G>A - IntronicSNV - 2/15 1
16-68800756-G-C c.163+28442G>C - IntronicSNV - 2/15 1
16-68800838-T-C c.163+28524T>C - IntronicSNV - 2/15 1
16-68800849-C-T c.163+28535C>T - IntronicSNV - 2/15 1
16-68801077-A-C c.163+28763A>C - IntronicSNV - 2/15 3
16-68801077-A-T c.163+28763A>T - IntronicSNV - 2/15 3
16-68802282-G-A c.163+29968G>A - IntronicSNV - 2/15 4
16-68802423-A-G c.163+30109A>G - IntronicSNV - 2/15 2
16-68802787-A-G c.163+30473A>G - IntronicSNV - 2/15 3
16-68802936-C-T c.163+30622C>T - IntronicSNV - 2/15 3
16-68803222-T-A c.163+30908T>A - IntronicSNV - 2/15 1
16-68803222-T-G c.163+30908T>G - IntronicSNV - 2/15 1
16-68803614-G-A c.163+31300G>A - IntronicSNV - 2/15 1
16-68803726-T-G c.163+31412T>G - IntronicSNV - 2/15 1
16-68803844-A-C c.163+31530A>C - IntronicSNV - 2/15 1
16-68803844-A-G c.163+31530A>G - IntronicSNV - 2/15 1
16-68804068-G-A c.164-31505G>A - IntronicSNV - 2/15 3
16-68804342-T-C c.164-31231T>C - IntronicSNV - 2/15 2
16-68805610-G-A c.164-29963G>A - IntronicSNV - 2/15 1
16-68805610-G-C c.164-29963G>C - IntronicSNV - 2/15 1
16-68805805-C-T c.164-29768C>T - IntronicSNV - 2/15 1
16-68806508-C-A c.164-29065C>A - IntronicSNV - 2/15 2
16-68806539-G-T c.164-29034G>T - IntronicSNV - 2/15 2
16-68806586-C-T c.164-28987C>T - IntronicSNV - 2/15 1
16-68806778-C-T c.164-28795C>T - IntronicSNV - 2/15 1
16-68809207-C-T c.164-26366C>T - IntronicSNV - 2/15 1
16-68809273-T-C c.164-26300T>C - IntronicSNV - 2/15 3
16-68809599-G-A c.164-25974G>A - IntronicSNV - 2/15 4
16-68809640-T-A c.164-25933T>A - IntronicSNV - 2/15 3
16-68810923-T-C c.164-24650T>C - IntronicSNV - 2/15 3
16-68811307-T-C c.164-24266T>C - IntronicSNV - 2/15 1
16-68814502-A-G c.164-21071A>G - IntronicSNV - 2/15 1
16-68814502-A-T c.164-21071A>T - IntronicSNV - 2/15 1
16-68814590-T-C c.164-20983T>C - IntronicSNV - 2/15 1
16-68814826-G-A c.164-20747G>A - IntronicSNV - 2/15 7
16-68814948-T-A c.164-20625T>A - IntronicSNV - 2/15 3
16-68815000-C-G c.164-20573C>G - IntronicSNV - 2/15 2
16-68815000-C-T c.164-20573C>T - IntronicSNV - 2/15 2
16-68815549-T-A c.164-20024T>A - IntronicSNV - 2/15 1
16-68815566-A-G c.164-20007A>G - IntronicSNV - 2/15 1
16-68815566-A-T c.164-20007A>T - IntronicSNV - 2/15 1
16-68815838-T-A c.164-19735T>A - IntronicSNV - 2/15 1
16-68816260-G-A c.164-19313G>A - IntronicSNV - 2/15 5
16-68816260-G-C c.164-19313G>C - IntronicSNV - 2/15 5
16-68817439-C-G c.164-18134C>G - IntronicSNV - 2/15 8
16-68817439-C-T c.164-18134C>T - IntronicSNV - 2/15 8
16-68818245-T-G c.164-17328T>G - IntronicSNV - 2/15 6
16-68818390-C-T c.164-17183C>T - IntronicSNV - 2/15 5
16-68818903-T-A c.164-16670T>A - IntronicSNV - 2/15 5
16-68818903-T-C c.164-16670T>C - IntronicSNV - 2/15 5
16-68819007-C-T c.164-16566C>T - IntronicSNV - 2/15 3
16-68819207-C-G c.164-16366C>G - IntronicSNV - 2/15 2
16-68819207-C-T c.164-16366C>T - IntronicSNV - 2/15 2
16-68819444-G-A c.164-16129G>A - IntronicSNV - 2/15 1
16-68819614-C-T c.164-15959C>T - IntronicSNV - 2/15 4
16-68820946-G-A c.164-14627G>A - IntronicSNV - 2/15 152
16-68821126-C-T c.164-14447C>T - IntronicSNV - 2/15 4
16-68821271-G-C c.164-14302G>C - IntronicSNV - 2/15 2
16-68821890-C-A c.164-13683C>A - IntronicSNV - 2/15 1
16-68821890-C-G c.164-13683C>G - IntronicSNV - 2/15 1
16-68821890-C-T c.164-13683C>T - IntronicSNV - 2/15 1
16-68822019-C-T c.164-13554C>T - IntronicSNV - 2/15 3
16-68822341-C-G c.164-13232C>G - IntronicSNV - 2/15 6
16-68822479-G-A c.164-13094G>A - IntronicSNV - 2/15 2
16-68822599-G-A c.164-12974G>A - IntronicSNV - 2/15 1
16-68822971-A-G c.164-12602A>G - IntronicSNV - 2/15 1
16-68824008-A-G c.164-11565A>G - IntronicSNV - 2/15 2
16-68824220-A-C c.164-11353A>C - IntronicSNV - 2/15 1
16-68824965-T-C c.164-10608T>C - IntronicSNV - 2/15 1
16-68829021-C-T c.164-6552C>T - IntronicSNV - 2/15 4
16-68830473-A-G c.164-5100A>G - IntronicSNV - 2/15 1
16-68830511-A-G c.164-5062A>G - IntronicSNV - 2/15 4
16-68830511-A-T c.164-5062A>T - IntronicSNV - 2/15 4
16-68830807-G-T c.164-4766G>T - IntronicSNV - 2/15 1
16-68832414-T-C c.164-3159T>C - IntronicSNV - 2/15 3
16-68832750-A-G c.164-2823A>G - IntronicSNV - 2/15 1
16-68832943-C-T c.164-2630C>T - IntronicSNV - 2/15 15
16-68833157-T-C c.164-2416T>C - IntronicSNV - 2/15 1
16-68833550-A-G c.164-2023A>G - IntronicSNV - 2/15 1
16-68833682-G-A c.164-1891G>A - IntronicSNV - 2/15 1
16-68833682-G-C c.164-1891G>C - IntronicSNV - 2/15 1
16-68833888-C-A c.164-1685C>A - IntronicSNV - 2/15 1
16-68833888-C-G c.164-1685C>G - IntronicSNV - 2/15 1
16-68833888-C-T c.164-1685C>T - IntronicSNV - 2/15 1
16-68834107-C-A c.164-1466C>A - IntronicSNV - 2/15 3
16-68834107-C-G c.164-1466C>G - IntronicSNV - 2/15 3
16-68834107-C-T c.164-1466C>T - IntronicSNV - 2/15 3
16-68834156-C-G c.164-1417C>G - IntronicSNV - 2/15 4
16-68834156-C-T c.164-1417C>T - IntronicSNV - 2/15 4
16-68835573-T-G c.164T>G p.Val55Gly Missense 3/16 - 5
16-68835581-G-T c.172G>T p.Glu58* Nonsense 3/16 - 3
16-68835591-C-T c.182C>T p.Thr61Ile Missense 3/16 - 1
16-68835593-G-A c.184G>A p.Gly62Ser Missense 3/16 - 4
16-68835594-G-A c.185G>A p.Gly62Asp Missense 3/16 - 2
16-68835594-G-T c.185G>T p.Gly62Val Missense 3/16 - 6
16-68835596-C-G c.187C>G p.Arg63Gly Missense 3/16 - 1
16-68835596-C-T c.187C>T p.Arg63* Nonsense 3/16 - 9
16-68835597-G-A c.188G>A p.Arg63Gln Missense 3/16 - 1
16-68835599-C-T c.190C>T p.Gln64* Nonsense 3/16 - 3
16-68835603-G-T c.194G>T p.Arg65Met Missense 3/16 - 1
16-68835608-G-A c.199G>A p.Ala67Thr Missense 3/16 - 1
16-68835608-G-T c.199G>T p.Ala67Ser Missense 3/16 - 2
16-68835617-TCCC-CCTT c.208_211delinsCCTT p.Ser70_Leu71delinsProPhe MultiAAMissense 3/16 - 1
16-68835617-TTCCCTC-T c.208_213del p.Ser70_Leu71del InFrameDeletion 3/16 - 1
16-68835617-TT-T c.208del p.Ser70Profs*13 Frameshift 3/16 - 2
16-68835618-C-T c.209C>T p.Ser70Phe Missense 3/16 - 1
16-68835620-C-T c.211C>T p.Leu71Phe Missense 3/16 - 1
16-68835622-C-A c.213C>A p.Leu71Leu Synonymous 3/16 - 1
16-68835622-C-G c.213C>G p.Leu71Leu Synonymous 3/16 - 1
16-68835622-C-T c.213C>T p.Leu71Leu Synonymous 3/16 - 1
16-68835623-G-A c.214G>A p.Asp72Asn Missense 3/16 - 4
16-68835623-G-C c.214G>C p.Asp72His Missense 3/16 - 3
16-68835629-C-T c.220C>T p.Arg74* Nonsense 3/16 - 3
16-68835630-G-A c.221G>A p.Arg74Gln Missense 3/16 - 1
16-68835634-C-G c.225C>G p.Phe75Leu Missense 3/16 - 1
16-68835641-G-A c.232G>A p.Gly78Ser Missense 3/16 - 1
16-68835642-G-A c.233G>A p.Gly78Asp Missense 3/16 - 1
16-68835644-A-G c.235A>G p.Thr79Ala Missense 3/16 - 1
16-68835646-A-G c.237A>G p.Thr79Thr Synonymous 3/16 - 1
16-68835647-G-A c.238G>A p.Asp80Asn Missense 3/16 - 1
16-68835650-TGGTGTGATTACAGTCAAAAGGCCTCTACGGTTT-T c.241_273del p.Gly81_Phe91del InFrameDeletion 3/16 - 1
16-68835654-T-C c.245T>C p.Val82Ala Missense 3/16 - 1
16-68835663-T-C c.254T>C p.Val85Ala Missense 3/16 - 2
16-68835667-A-C c.258A>C p.Lys86Asn Missense 3/16 - 1
16-68835668-A-G c.259A>G p.Arg87Gly Missense 3/16 - 1
16-68835670-G-C c.261G>C p.Arg87Ser Missense 3/16 - 1
16-68835672-C-A c.263C>A p.Pro88His Missense 3/16 - 1
16-68835672-C-G c.263C>G p.Pro88Arg Missense 3/16 - 1
16-68835678-G-A c.269G>A p.Arg90Gln Missense 3/16 - 2
16-68835682-TT-T c.273del p.His92Ilefs*25 Frameshift 3/16 - 1
16-68835683-C-T c.274C>T p.His92Tyr Missense 3/16 - 1
16-68835689-C-A c.280C>A p.Pro94Thr Missense 3/16 - 2
16-68835690-C-CC c.281dup p.Gln95Thrfs*73 Frameshift 3/16 - 1
16-68835692-C-T c.283C>T p.Gln95* Nonsense 3/16 - 5
16-68835695-A-G c.286A>G p.Ile96Val Missense 3/16 - 2
16-68835696-T-C c.287T>C p.Ile96Thr Missense 3/16 - 1
16-68835706-G-C c.297G>C p.Leu99Phe Missense 3/16 - 1
16-68835711-A-G c.302A>G p.Tyr101Cys Missense 3/16 - 2
16-68835713-G-A c.304G>A p.Ala102Thr Missense 3/16 - 3
16-68835713-G-T c.304G>T p.Ala102Ser Missense 3/16 - 1
16-68835714-CC-AG c.305_306delinsAG p.Ala102Glu Missense 3/16 - 1
16-68835717-G-A c.308G>A p.Trp103* Nonsense 3/16 - 1
16-68835722-T-A c.313T>A p.Ser105Thr Missense 3/16 - 1
16-68835728-TAC-GAG c.319_321delinsGAG p.Tyr107Glu Missense 3/16 - 1
16-68835729-A-T c.320A>T p.Tyr107Phe Missense 3/16 - 1
16-68835731-AG-CA c.322_323delinsCA p.Arg108Gln Missense 3/16 - 1
16-68835731-CA-C c.322del p.Arg108Glufs*9 Frameshift 3/16 - 1
16-68835733-A-G c.324A>G p.Arg108Arg Synonymous 3/16 - 3
16-68835745-CC-C c.336del p.Val114Serfs*3 Frameshift 3/16 - 1
16-68835746-A-G c.337A>G p.Lys113Glu Missense 3/16 - 1
16-68835752-A-AA c.343dup p.Thr115Asnfs*53 Frameshift 3/16 - 1
16-68835753-C-T c.344C>T p.Thr115Met Missense 3/16 - 2
16-68835754-G-A c.345G>A p.Thr115Thr Synonymous 3/16 - 7
16-68835757-G-A c.348G>A p.Leu116Leu Synonymous 3/16 - 1
16-68835758-A-G c.349A>G p.Asn117Asp Missense 3/16 - 1
16-68835762-C-G c.353C>G p.Thr118Arg Missense 3/16 - 4
16-68835769-G-GG c.360dup p.His121Alafs*47 Frameshift 3/16 - 2
16-68835769-GG-G c.360del p.His121Thrfs*94 Frameshift 3/16 - 4
16-68835770-CA-AC c.361_362delinsAC p.His121Thr Missense 3/16 - 2
16-68835771-A-G c.362A>G p.His121Arg Missense 3/16 - 1
16-68835776-C-G c.367C>G p.His123Asp Missense 3/16 - 1
16-68835776-C-T c.367C>T p.His123Tyr Missense 3/16 - 1
16-68835778-C-A c.369C>A p.His123Gln Missense 3/16 - 1
16-68835778-C-G c.369C>G p.His123Gln Missense 3/16 - 1
16-68835779-C-T c.370C>T p.Arg124Cys Missense 3/16 - 2
16-68835783-C-T c.374C>T p.Pro125Leu Missense 3/16 - 1
16-68835786-C-A c.377C>A p.Pro126Gln Missense 3/16 - 1
16-68835786-C-CC c.377dup p.Pro127Alafs*41 Frameshift 3/16 - 1
16-68835786-CC-C c.377del p.Pro126Argfs*89 Frameshift 3/16 - 2
16-68835786-C-G c.377C>G p.Pro126Arg Missense 3/16 - 2
16-68835786-C-T c.377C>T p.Pro126Leu Missense 3/16 - 3
16-68835787-G-A c.378G>A p.Pro126Pro Synonymous 3/16 - 1
16-68835787-G-T c.378G>T p.Pro126Pro Synonymous 3/16 - 1
16-68835788-C-T c.379C>T p.Pro127Ser Missense 3/16 - 1
16-68835791-CA-AT c.382_383delinsAT p.His128Ile Missense 3/16 - 1
16-68835791-CC-C c.382del p.His128Ilefs*87 Frameshift 3/16 - 2
16-68835794-C-T c.385C>T p.Gln129* Nonsense 3/16 - 3
16-68835796-G-T c.387G>T p.Gln129His Missense 3/16 - 2
16-68835797-G-A c.387+1G>A - IntronicSNV - 3/15 2
16-68835801-G-A c.387+5G>A - IntronicSNV - 3/15 2
16-68835823-C-A c.387+27C>A - IntronicSNV - 3/15 1
16-68835823-C-T c.387+27C>T - IntronicSNV - 3/15 2
16-68836665-C-T c.387+869C>T - IntronicSNV - 3/15 2
16-68837496-A-G c.387+1700A>G - IntronicSNV - 3/15 4
16-68837876-G-A c.387+2080G>A - IntronicSNV - 3/15 1
16-68837876-G-C c.387+2080G>C - IntronicSNV - 3/15 1
16-68838716-G-A c.387+2920G>A - IntronicSNV - 3/15 1
16-68839263-G-T c.388-3064G>T - IntronicSNV - 3/15 7
16-68839293-A-G c.388-3034A>G - IntronicSNV - 3/15 6
16-68839302-T-C c.388-3025T>C - IntronicSNV - 3/15 4
16-68840588-A-G c.388-1739A>G - IntronicSNV - 3/15 7
16-68842283-G-A c.388-44G>A - IntronicSNV - 3/15 2
16-68842327-G-A c.388G>A p.Ala130Thr Missense 4/16 - 1
16-68842333-G-A c.394G>A p.Val132Ile Missense 4/16 - 1
16-68842336-T-G c.397T>G p.Ser133Ala Missense 4/16 - 1
16-68842351-G-T c.412G>T p.Glu138* Nonsense 4/16 - 1
16-68842357-C-T c.418C>T p.Leu140Phe Missense 4/16 - 1
16-68842361-C-G c.422C>G p.Thr141Arg Missense 4/16 - 1
16-68842376-C-G c.437C>G p.Ser146Cys Missense 4/16 - 1
16-68842378-C-G c.439C>G p.Pro147Ala Missense 4/16 - 1
16-68842384-CTC-ATG c.445_447delinsATG p.Leu149Met Missense 4/16 - 1
16-68842388-G-A c.449G>A p.Arg150Lys Missense 4/16 - 1
16-68842393-ACAGAAGA-A c.454_460del p.Gln152Glufs*61 Frameshift 4/16 - 1
16-68842394-A-G c.455A>G p.Gln152Arg Missense 4/16 - 1
16-68842395-G-C c.456G>C p.Gln152His Missense 4/16 - 1
16-68842400-G-C c.461G>C p.Arg154Thr Missense 4/16 - 1
16-68842401-A-C c.462A>C p.Arg154Ser Missense 4/16 - 1
16-68842401-A-T c.462A>T p.Arg154Ser Missense 4/16 - 1
16-68842405-T-G c.466T>G p.Trp156Gly Missense 4/16 - 1
16-68842405-TG-GC c.466_467delinsGC p.Trp156Ala Missense 4/16 - 1
16-68842407-G-T c.468G>T p.Trp156Cys Missense 4/16 - 1
16-68842408-G-C c.469G>C p.Val157Leu Missense 4/16 - 1
16-68842408-G-T c.469G>T p.Val157Phe Missense 4/16 - 1
16-68842410-TTATTCCTCCCATCAGCTGCCCAGAAAATGAAAAAGGCCCATTTCCTAAAAACCTGGTTC-T c.471_529del p.Ile158Aspfs*21 InFrameDeletion 4/16 - 1
16-68842414-C-CATA c.475_476insATA p.Pro159delinsHisThr MultiAAMissense 4/16 - 1
16-68842414-C-G c.475C>G p.Pro159Ala Missense 4/16 - 1
16-68842414-C-T c.475C>T p.Pro159Ser Missense 4/16 - 1
16-68842415-C-T c.476C>T p.Pro159Leu Missense 4/16 - 1
16-68842419-C-T c.480C>T p.Pro160Pro Synonymous 4/16 - 1
16-68842426-CT-C c.487del p.Cys163Alafs*52 Frameshift 4/16 - 1
16-68842428-C-A c.489C>A p.Cys163* Nonsense 4/16 - 3
16-68842438-G-A c.499G>A p.Glu167Lys Missense 4/16 - 1
16-68842439-A-C c.500A>C p.Glu167Ala Missense 4/16 - 1
16-68842441-A-G c.502A>G p.Lys168Glu Missense 4/16 - 1
16-68842443-A-AA c.504dup p.Gly169Argfs*5 Frameshift 4/16 - 1
16-68842444-G-A c.505G>A p.Gly169Ser Missense 4/16 - 1
16-68842448-C-T c.509C>T p.Pro170Leu Missense 4/16 - 1
16-68842454-C-G c.515C>G p.Pro172Arg Missense 4/16 - 2
16-68842460-A-AA c.521dup p.Asn174Lysfs*25 Frameshift 4/16 - 2
16-68842463-T-C c.524T>C p.Leu175Pro Missense 4/16 - 1
16-68842471-G-C c.531+1G>C - IntronicSNV - 4/15 1
16-68842472-T-A c.531+2T>A - IntronicSNV - 4/15 2
16-68842473-A-G c.531+3A>G - IntronicSNV - 4/15 1
16-68842480-G-C c.531+10G>C - IntronicSNV - 4/15 7
16-68842578-C-A c.532-18C>A - IntronicSNV - 4/15 1
16-68842578-C-T c.532-18C>T - IntronicSNV - 4/15 5
16-68842595-G-A c.532-1G>A - IntronicSNV - 4/15 1
16-68842599-A-G c.535A>G p.Lys179Glu Missense 5/16 - 2
16-68842603-C-T c.539C>T p.Ser180Phe Missense 5/16 - 1
16-68842610-A-C c.546A>C p.Lys182Asn Missense 5/16 - 4
16-68842610-A-G c.546A>G p.Lys182Lys Synonymous 5/16 - 2
16-68842618-A-T c.554A>T p.Glu185Val Missense 5/16 - 3
16-68842622-C-T c.558C>T p.Gly186Gly Synonymous 5/16 - 1
16-68842624-A-G c.560A>G p.Lys187Arg Missense 5/16 - 2
16-68842627-T-A c.563T>A p.Val188Asp Missense 5/16 - 1
16-68842633-A-G c.569A>G p.Tyr190Cys Missense 5/16 - 1
16-68842639-T-A c.575T>A p.Ile192Asn Missense 5/16 - 1
16-68842641-A-C c.577A>C p.Thr193Pro Missense 5/16 - 1
16-68842650-G-T c.586G>T p.Gly196* Nonsense 5/16 - 3
16-68842666-CCT-C c.602_603del p.Pro201Argfs*7 Frameshift 5/16 - 1
16-68842666-C-T c.602C>T p.Pro201Leu Missense 5/16 - 1
16-68842667-CT-C c.603del p.Val202Leufs*13 Frameshift 5/16 - 3
16-68842668-G-A c.604G>A p.Val202Ile Missense 5/16 - 4
16-68842668-G-C c.604G>C p.Val202Leu Missense 5/16 - 1
16-68842678-T-C c.614T>C p.Phe205Ser Missense 5/16 - 4
16-68842692-G-C c.628G>C p.Glu210Gln Missense 5/16 - 3
16-68842692-G-T c.628G>T p.Glu210* Nonsense 5/16 - 1
16-68842699-G-A c.635G>A p.Gly212Glu Missense 5/16 - 1
16-68842699-G-T c.635G>T p.Gly212Val Missense 5/16 - 2
16-68842700-A-G c.636A>G p.Gly212Gly Synonymous 5/16 - 1
16-68842702-G-A c.638G>A p.Trp213* Nonsense 5/16 - 1
16-68842702-G-C c.638G>C p.Trp213Ser Missense 5/16 - 1
16-68842703-G-A c.639G>A p.Trp213* Nonsense 5/16 - 1
16-68842704-CT-GC c.640_641delinsGC p.Leu214Ala Missense 5/16 - 1
16-68842705-T-A c.641T>A p.Leu214Gln Missense 5/16 - 1
16-68842705-T-C c.641T>C p.Leu214Pro Missense 5/16 - 6
16-68842705-T-G c.641T>G p.Leu214Arg Missense 5/16 - 1
16-68842716-G-GTA c.652_653insTA p.Glu218Valfs*33 Frameshift 5/16 - 1
16-68842726-A-G c.662A>G p.Asp221Gly Missense 5/16 - 1
16-68842728-A-G c.664A>G p.Arg222Gly Missense 5/16 - 1
16-68842731-G-C c.667G>C p.Glu223Gln Missense 5/16 - 1
16-68842734-C-T c.670C>T p.Arg224Cys Missense 5/16 - 6
16-68842735-G-A c.671G>A p.Arg224His Missense 5/16 - 6
16-68842738-T-C c.674T>C p.Ile225Thr Missense 5/16 - 1
16-68842747-A-AA c.683dup p.Tyr228* Nonsense 5/16 - 2
16-68842752-G-A c.687+1G>A - IntronicSNV - 5/15 1
16-68842752-G-T c.687+1G>T - IntronicSNV - 5/15 2
16-68842756-G-C c.687+5G>C - IntronicSNV - 5/15 1
16-68842895-G-A c.687+144G>A - IntronicSNV - 5/15 6
16-68842895-G-T c.687+144G>T - IntronicSNV - 5/15 6
16-68844017-G-A c.688-83G>A - IntronicSNV - 5/15 1
16-68844017-G-T c.688-83G>T - IntronicSNV - 5/15 1
16-68844086-C-T c.688-14C>T - IntronicSNV - 5/15 1
16-68844098-A-G c.688-2A>G - IntronicSNV - 5/15 1
16-68844099-G-C c.688-1G>C - IntronicSNV - 5/15 2
16-68844100-GCTCTTCTCTCACGCTGTGTCATCCAACGGGAATGCAGTTGAGGATCCAATGGAGATTTT-G c.688_746del p.Leu230Aspfs*8 Unclassified 6/16 - 1
16-68844102-C-G c.690C>G p.Leu230Leu Synonymous 6/16 - 1
16-68844102-C-T c.690C>T p.Leu230Leu Synonymous 6/16 - 1
16-68844107-C-G c.695C>G p.Ser232Cys Missense 6/16 - 3
16-68844109-C-A c.697C>A p.His233Asn Missense 6/16 - 1
16-68844111-C-G c.699C>G p.His233Gln Missense 6/16 - 3
16-68844111-C-T c.699C>T p.His233His Synonymous 6/16 - 3
16-68844124-A-G c.712A>G p.Asn238Asp Missense 6/16 - 2
16-68844127-G-A c.715G>A p.Gly239Arg Missense 6/16 - 8
16-68844136-G-A c.724G>A p.Val242Ile Missense 6/16 - 1
16-68844139-G-A c.727G>A p.Glu243Lys Missense 6/16 - 1
16-68844139-G-T c.727G>T p.Glu243* Nonsense 6/16 - 1
16-68844143-A-G c.731A>G p.Asp244Gly Missense 6/16 - 4
16-68844146-C-T c.734C>T p.Pro245Leu Missense 6/16 - 1
16-68844151-G-T c.739G>T p.Glu247* Nonsense 6/16 - 1
16-68844154-A-T c.742A>T p.Ile248Phe Missense 6/16 - 1
16-68844155-T-A c.743T>A p.Ile248Asn Missense 6/16 - 1
16-68844161-T-G c.749T>G p.Ile250Ser Missense 6/16 - 1
16-68844164-C-T c.752C>T p.Thr251Met Missense 6/16 - 2
16-68844167-T-G c.755T>G p.Val252Gly Missense 6/16 - 2
16-68844171-C-A c.759C>A p.Thr253Thr Synonymous 6/16 - 1
16-68844171-C-G c.759C>G p.Thr253Thr Synonymous 6/16 - 1
16-68844171-C-T c.759C>T p.Thr253Thr Synonymous 6/16 - 1
16-68844172-G-A c.760G>A p.Asp254Asn Missense 6/16 - 7
16-68844172-G-C c.760G>C p.Asp254His Missense 6/16 - 2
16-68844172-G-T c.760G>T p.Asp254Tyr Missense 6/16 - 7
16-68844173-A-G c.761A>G p.Asp254Gly Missense 6/16 - 2
16-68844173-A-T c.761A>T p.Asp254Val Missense 6/16 - 1
16-68844177-G-C c.765G>C p.Gln255His Missense 6/16 - 1
16-68844177-G-T c.765G>T p.Gln255His Missense 6/16 - 1
16-68844179-A-G c.767A>G p.Asn256Ser Missense 6/16 - 2
16-68844180-T-A c.768T>A p.Asn256Lys Missense 6/16 - 4
16-68844180-T-G c.768T>G p.Asn256Lys Missense 6/16 - 3
16-68844181-G-A c.769G>A p.Asp257Asn Missense 6/16 - 2
16-68844181-G-T c.769G>T p.Asp257Tyr Missense 6/16 - 1
16-68844182-A-C c.770A>C p.Asp257Ala Missense 6/16 - 1
16-68844182-A-G c.770A>G p.Asp257Gly Missense 6/16 - 2
16-68844182-A-T c.770A>T p.Asp257Val Missense 6/16 - 2
16-68844188-A-C c.776A>C p.Lys259Thr Missense 6/16 - 1
16-68844189-G-A c.777G>A p.Lys259Lys Synonymous 6/16 - 1
16-68844191-C-G c.779C>G p.Pro260Arg Missense 6/16 - 1
16-68844191-C-T c.779C>T p.Pro260Leu Missense 6/16 - 1
16-68844193-G-A c.781G>A p.Glu261Lys Missense 6/16 - 1
16-68844193-G-T c.781G>T p.Glu261* Nonsense 6/16 - 1
16-68844196-T-G c.784T>G p.Phe262Val Missense 6/16 - 1
16-68844202-C-T c.790C>T p.Gln264* Nonsense 6/16 - 1
16-68844207-G-C c.795G>C p.Glu265Asp Missense 6/16 - 1
16-68844207-G-T c.795G>T p.Glu265Asp Missense 6/16 - 1
16-68844210-TC-T c.798del p.Phe267Leufs*15 Frameshift 6/16 - 1
16-68844220-T-G c.808T>G p.Ser270Ala Missense 6/16 - 5
16-68844232-G-A c.820G>A p.Gly274Ser Missense 6/16 - 4
16-68844233-G-A c.821G>A p.Gly274Asp Missense 6/16 - 1
16-68844244-G-A c.832G>A p.Gly278Arg Missense 6/16 - 1
16-68844245-G-A c.832+1G>A - IntronicSNV - 6/15 1
16-68844245-G-T c.832+1G>T - IntronicSNV - 6/15 3
16-68844836-C-T c.832+592C>T - IntronicSNV - 6/15 1
16-68844967-A-G c.833-620A>G - IntronicSNV - 6/15 2
16-68845211-A-C c.833-376A>C - IntronicSNV - 6/15 1
16-68845571-C-G c.833-16C>G - IntronicSNV - 6/15 1
16-68845585-A-G c.833-2A>G - IntronicSNV - 6/15 2
16-68845600-G-A c.846G>A p.Met282Ile Missense 7/16 - 2
16-68845600-G-C c.846G>C p.Met282Ile Missense 7/16 - 2
16-68845600-G-T c.846G>T p.Met282Ile Missense 7/16 - 2
16-68845610-G-A c.856G>A p.Ala286Thr Missense 7/16 - 1
16-68845616-G-A c.862G>A p.Asp288Asn Missense 7/16 - 2
16-68845616-G-C c.862G>C p.Asp288His Missense 7/16 - 2
16-68845617-A-T c.863A>T p.Asp288Val Missense 7/16 - 1
16-68845618-C-A c.864C>A p.Asp288Glu Missense 7/16 - 1
16-68845618-C-G c.864C>G p.Asp288Glu Missense 7/16 - 1
16-68845619-G-A c.865G>A p.Ala289Thr Missense 7/16 - 2
16-68845620-C-T c.866C>T p.Ala289Val Missense 7/16 - 2
16-68845620-GC-G c.866del p.Ala289Glyfs*5 Frameshift 7/16 - 1
16-68845621-G-A c.867G>A p.Ala289Ala Synonymous 7/16 - 1
16-68845622-G-A c.868G>A p.Asp290Asn Missense 7/16 - 1
16-68845623-A-G c.869A>G p.Asp290Gly Missense 7/16 - 1
16-68845625-G-A c.871G>A p.Asp291Asn Missense 7/16 - 1
16-68845638-C-T c.884C>T p.Thr295Ile Missense 7/16 - 1
16-68845644-A-G c.890A>G p.Asn297Ser Missense 7/16 - 1
16-68845646-G-A c.892G>A p.Ala298Thr Missense 7/16 - 14
16-68845647-C-A c.893C>A p.Ala298Asp Missense 7/16 - 1
16-68845648-C-T c.894C>T p.Ala298Ala Synonymous 7/16 - 2
16-68845649-G-A c.895G>A p.Ala299Thr Missense 7/16 - 1
16-68845649-G-T c.895G>T p.Ala299Ser Missense 7/16 - 1
16-68845652-A-G c.898A>G p.Ile300Val Missense 7/16 - 1
16-68845654-C-G c.900C>G p.Ile300Met Missense 7/16 - 1
16-68845661-A-T c.907A>T p.Thr303Ser Missense 7/16 - 1
16-68845667-C-A c.913C>A p.Leu305Ile Missense 7/16 - 1
16-68845671-G-C c.917G>C p.Ser306Thr Missense 7/16 - 1
16-68845675-A-G c.921A>G p.Gln307Gln Synonymous 7/16 - 2
16-68845676-G-A c.922G>A p.Asp308Asn Missense 7/16 - 1
16-68845679-C-T c.925C>T p.Pro309Ser Missense 7/16 - 1
16-68845685-C-T c.931C>T p.Leu311Phe Missense 7/16 - 1
16-68845687-C-A c.933C>A p.Leu311Leu Synonymous 7/16 - 1
16-68845687-C-G c.933C>G p.Leu311Leu Synonymous 7/16 - 1
16-68845687-C-T c.933C>T p.Leu311Leu Synonymous 7/16 - 1
16-68845688-C-A c.934C>A p.Pro312Thr Missense 7/16 - 1
16-68845693-C-G c.939C>G p.Asp313Glu Missense 7/16 - 1
16-68845694-A-T c.940A>T p.Lys314* Nonsense 7/16 - 1
16-68845698-A-AA c.944dup p.Asn315Lysfs*6 Frameshift 7/16 - 1
16-68845698-A-G c.944A>G p.Asn315Ser Missense 7/16 - 1
16-68845699-T-A c.945T>A p.Asn315Lys Missense 7/16 - 1
16-68845699-T-G c.945T>G p.Asn315Lys Missense 7/16 - 1
16-68845701-ATGTTCA-A c.947_952del p.Met316_Phe317del InFrameDeletion 7/16 - 1
16-68845702-TGTT-T c.948_950del p.Met316_Phe317delinsIle MultiAAMissense 7/16 - 1
16-68845704-T-C c.950T>C p.Phe317Ser Missense 7/16 - 1
16-68845709-A-G c.955A>G p.Ile319Val Missense 7/16 - 1
16-68845731-T-A c.977T>A p.Ile326Asn Missense 7/16 - 1
16-68845732-C-A c.978C>A p.Ile326Ile Synonymous 7/16 - 1
16-68845739-G-T c.985G>T p.Val329Phe Missense 7/16 - 1
16-68845743-C-T c.989C>T p.Thr330Ile Missense 7/16 - 1
16-68845754-G-C c.1000G>C p.Asp334His Missense 7/16 - 1
16-68845757-C-CT c.1003_1004insT p.Arg335Leufs*15 Frameshift 7/16 - 1
16-68845757-C-G c.1003C>G p.Arg335Gly Missense 7/16 - 2
16-68845757-C-T c.1003C>T p.Arg335* Nonsense 7/16 - 17
16-68845758-G-A c.1004G>A p.Arg335Gln Missense 7/16 - 3
16-68845760-G-A c.1006G>A p.Glu336Lys Missense 7/16 - 1
16-68845762-G-A c.1008G>A p.Glu336Glu Synonymous 7/16 - 2
16-68845762-G-T c.1008G>T p.Glu336Asp Missense 7/16 - 7
16-68845764-T-G c.1008+2T>G - IntronicSNV - 7/15 1
16-68845809-T-C c.1008+47T>C - IntronicSNV - 7/15 1
16-68846036-A-C c.1009-2A>C - IntronicSNV - 7/15 1
16-68846036-A-G c.1009-2A>G - IntronicSNV - 7/15 1
16-68846045-C-T c.1016C>T p.Pro339Leu Missense 8/16 - 1
16-68846047-A-G c.1018A>G p.Thr340Ala Missense 8/16 - 30
16-68846047-A-T c.1018A>T p.Thr340Ser Missense 8/16 - 4
16-68846048-C-T c.1019C>T p.Thr340Met Missense 8/16 - 2
16-68846049-G-A c.1020G>A p.Thr340Thr Synonymous 8/16 - 1
16-68846049-G-T c.1020G>T p.Thr340Thr Synonymous 8/16 - 1
16-68846050-T-C c.1021T>C p.Tyr341His Missense 8/16 - 1
16-68846050-T-G c.1021T>G p.Tyr341Asp Missense 8/16 - 1
16-68846052-T-G c.1023T>G p.Tyr341* Nonsense 8/16 - 6
16-68846054-C-T c.1025C>T p.Thr342Ile Missense 8/16 - 1
16-68846056-C-A c.1027C>A p.Leu343Met Missense 8/16 - 1
16-68846057-T-A c.1028T>A p.Leu343Gln Missense 8/16 - 1
16-68846057-T-C c.1028T>C p.Leu343Pro Missense 8/16 - 1
16-68846059-G-A c.1030G>A p.Val344Met Missense 8/16 - 1
16-68846065-C-T c.1036C>T p.Gln346* Nonsense 8/16 - 3
16-68846069-C-T c.1040C>T p.Ala347Val Missense 8/16 - 1
16-68846071-G-A c.1042G>A p.Ala348Thr Missense 8/16 - 1
16-68846072-C-T c.1043C>T p.Ala348Val Missense 8/16 - 2
16-68846074-G-T c.1045G>T p.Asp349Tyr Missense 8/16 - 1
16-68846076-C-T c.1047C>T p.Asp349Asp Synonymous 8/16 - 1
16-68846080-C-G c.1051C>G p.Gln351Glu Missense 8/16 - 1
16-68846080-C-T c.1051C>T p.Gln351* Nonsense 8/16 - 1
16-68846086-G-A c.1057G>A p.Glu353Lys Missense 8/16 - 3
16-68846089-G-T c.1060G>T p.Gly354Trp Missense 8/16 - 1
16-68846091-G-A c.1062G>A p.Gly354Gly Synonymous 8/16 - 1
16-68846091-G-C c.1062G>C p.Gly354Gly Synonymous 8/16 - 1
16-68846091-G-T c.1062G>T p.Gly354Gly Synonymous 8/16 - 1
16-68846092-T-C c.1063T>C p.Leu355Leu Synonymous 8/16 - 1
16-68846092-TT-AC c.1063_1064delinsAC p.Leu355Thr Missense 8/16 - 1
16-68846093-T-TT c.1064dup p.Leu355Phefs*13 Frameshift 8/16 - 1
16-68846093-TT-T c.1064del p.Leu355* Frameshift 8/16 - 1
16-68846099-C-T c.1070C>T p.Thr357Ile Missense 8/16 - 1
16-68846107-A-G c.1078A>G p.Thr360Ala Missense 8/16 - 1
16-68846114-GT-G c.1085del p.Val362Glyfs*31 Frameshift 8/16 - 1
16-68846119-A-T c.1090A>T p.Thr364Ser Missense 8/16 - 2
16-68846122-G-A c.1093G>A p.Val365Ile Missense 8/16 - 1
16-68846122-G-C c.1093G>C p.Val365Leu Missense 8/16 - 1
16-68846126-ACT-A c.1097_1098del p.Thr366Argfs*5 Frameshift 8/16 - 1
16-68846126-C-A c.1097C>A p.Thr366Asn Missense 8/16 - 1
16-68846128-G-A c.1099G>A p.Asp367Asn Missense 8/16 - 1
16-68846131-A-G c.1102A>G p.Thr368Ala Missense 8/16 - 1
16-68846132-C-G c.1103C>G p.Thr368Ser Missense 8/16 - 1
16-68846134-A-G c.1105A>G p.Asn369Asp Missense 8/16 - 1
16-68846136-C-T c.1107C>T p.Asn369Asn Synonymous 8/16 - 1
16-68846137-G-A c.1108G>A p.Asp370Asn Missense 8/16 - 2
16-68846137-G-C c.1108G>C p.Asp370His Missense 8/16 - 3
16-68846137-G-T c.1108G>T p.Asp370Tyr Missense 8/16 - 4
16-68846138-A-C c.1109A>C p.Asp370Ala Missense 8/16 - 1
16-68846141-A-G c.1112A>G p.Asn371Ser Missense 8/16 - 1
16-68846144-C-A c.1115C>A p.Pro372His Missense 8/16 - 1
16-68846146-C-G c.1117C>G p.Pro373Ala Missense 8/16 - 1
16-68846147-C-G c.1118C>G p.Pro373Arg Missense 8/16 - 2
16-68846147-C-T c.1118C>T p.Pro373Leu Missense 8/16 - 15
16-68846151-C-A c.1122C>A p.Ile374Ile Synonymous 8/16 - 1
16-68846151-C-T c.1122C>T p.Ile374Ile Synonymous 8/16 - 1
16-68846159-C-G c.1130C>G p.Pro377Arg Missense 8/16 - 1
16-68846159-C-T c.1130C>T p.Pro377Leu Missense 8/16 - 1
16-68846164-CACG-C c.1135_1137del p.Thr379del InFrameDeletion 8/16 - 1
16-68846164-CACGGTAAT-C c.1135_1137+5del - SpliceDonorDeletion 8/16 8/15 2
16-68846165-C-T c.1136C>T p.Thr379Met Missense 8/16 - 2
16-68846166-G-A c.1137G>A p.Thr379Thr Synonymous 8/16 - 15
16-68846166-G-T c.1137G>T p.Thr379Thr Synonymous 8/16 - 5
16-68846167-G-A c.1137+1G>A - IntronicSNV - 8/15 1
16-68846167-GG-G c.1137+1del - IntronicDeletion - 8/15 1
16-68847213-C-T c.1138-3C>T - IntronicSNV - 8/15 2
16-68847216-GTACAAGGGTCAGGTGCCTGAGAACGAGGCTAACGTCGTAATCACCACACTGAAAGTGAC-G c.1139_1197del p.Tyr380* Unclassified 9/16 - 2
16-68847223-G-A c.1145G>A p.Gly382Asp Missense 9/16 - 1
16-68847225-C-T c.1147C>T p.Gln383* Nonsense 9/16 - 2
16-68847227-G-T c.1149G>T p.Gln383His Missense 9/16 - 1
16-68847232-C-T c.1154C>T p.Pro385Leu Missense 9/16 - 1
16-68847234-G-A c.1156G>A p.Glu386Lys Missense 9/16 - 2
16-68847239-C-A c.1161C>A p.Asn387Lys Missense 9/16 - 1
16-68847239-C-T c.1161C>T p.Asn387Asn Synonymous 9/16 - 1
16-68847240-G-A c.1162G>A p.Glu388Lys Missense 9/16 - 2
16-68847247-A-G c.1169A>G p.Asn390Ser Missense 9/16 - 1
16-68847248-C-T c.1170C>T p.Asn390Asn Synonymous 9/16 - 1
16-68847249-G-A c.1171G>A p.Val391Ile Missense 9/16 - 2
16-68847249-G-T c.1171G>T p.Val391Phe Missense 9/16 - 1
16-68847251-C-T c.1173C>T p.Val391Val Synonymous 9/16 - 1
16-68847256-T-A c.1178T>A p.Ile393Asn Missense 9/16 - 2
16-68847267-A-T c.1189A>T p.Lys397* Nonsense 9/16 - 2
16-68847273-A-G c.1195A>G p.Thr399Ala Missense 9/16 - 1
16-68847274-C-T c.1196C>T p.Thr399Ile Missense 9/16 - 3
16-68847276-G-A c.1198G>A p.Asp400Asn Missense 9/16 - 1
16-68847276-G-C c.1198G>C p.Asp400His Missense 9/16 - 1
16-68847276-G-T c.1198G>T p.Asp400Tyr Missense 9/16 - 1
16-68847277-A-T c.1199A>T p.Asp400Val Missense 9/16 - 4
16-68847279-G-A c.1201G>A p.Ala401Thr Missense 9/16 - 1
16-68847280-C-T c.1202C>T p.Ala401Val Missense 9/16 - 1
16-68847282-G-A c.1204G>A p.Asp402Asn Missense 9/16 - 3
16-68847282-G-C c.1204G>C p.Asp402His Missense 9/16 - 3
16-68847283-A-C c.1205A>C p.Asp402Ala Missense 9/16 - 1
16-68847290-CC-C c.1212del p.Asn405Ilefs*12 Frameshift 9/16 - 4
16-68847291-AA-GC c.1213_1214delinsGC p.Asn405Ala Missense 9/16 - 2
16-68847292-A-C c.1214A>C p.Asn405Thr Missense 9/16 - 1
16-68847292-A-G c.1214A>G p.Asn405Ser Missense 9/16 - 2
16-68847294-A-G c.1216A>G p.Thr406Ala Missense 9/16 - 1
16-68847297-C-T c.1219C>T p.Pro407Ser Missense 9/16 - 1
16-68847301-C-G c.1223C>G p.Ala408Gly Missense 9/16 - 2
16-68847301-C-T c.1223C>T p.Ala408Val Missense 9/16 - 5
16-68847302-G-A c.1224G>A p.Ala408Ala Synonymous 9/16 - 2
16-68847302-G-T c.1224G>T p.Ala408Ala Synonymous 9/16 - 1
16-68847303-T-C c.1225T>C p.Trp409Arg Missense 9/16 - 7
16-68847304-G-A c.1226G>A p.Trp409* Nonsense 9/16 - 2
16-68847309-G-GG c.1231dup p.Ala411Glyfs*8 Frameshift 9/16 - 1
16-68847313-T-C c.1235T>C p.Val412Ala Missense 9/16 - 1
16-68847319-C-T c.1241C>T p.Thr414Ile Missense 9/16 - 1
16-68847321-A-C c.1243A>C p.Ile415Leu Missense 9/16 - 2
16-68847322-T-C c.1244T>C p.Ile415Thr Missense 9/16 - 1
16-68847330-G-A c.1252G>A p.Asp418Asn Missense 9/16 - 1
16-68847333-G-A c.1255G>A p.Asp419Asn Missense 9/16 - 1
16-68847337-G-A c.1259G>A p.Gly420Asp Missense 9/16 - 1
16-68847342-C-A c.1264C>A p.Gln422Lys Missense 9/16 - 1
16-68847350-C-T c.1272C>T p.Val424Val Synonymous 9/16 - 3
16-68847351-G-A c.1273G>A p.Val425Ile Missense 9/16 - 4
16-68847351-G-C c.1273G>C p.Val425Leu Missense 9/16 - 2
16-68847363-C-T c.1285C>T p.Pro429Ser Missense 9/16 - 5
16-68847364-C-T c.1286C>T p.Pro429Leu Missense 9/16 - 1
16-68847367-T-G c.1289T>G p.Val430Gly Missense 9/16 - 1
16-68847374-C-G c.1296C>G p.Asn432Lys Missense 9/16 - 5
16-68847374-C-T c.1296C>T p.Asn432Asn Synonymous 9/16 - 2
16-68847375-G-A c.1297G>A p.Asp433Asn Missense 9/16 - 9
16-68847376-A-G c.1298A>G p.Asp433Gly Missense 9/16 - 3
16-68847381-A-AA c.1303dup p.Ile435Asnfs*11 Frameshift 9/16 - 1
16-68847382-T-C c.1304T>C p.Ile435Thr Missense 9/16 - 1
16-68847393-G-A c.1315G>A p.Ala439Thr Missense 9/16 - 1
16-68847398-G-T c.1320G>T p.Lys440Asn Missense 9/16 - 2
16-68847399-G-A c.1320+1G>A - IntronicSNV - 9/15 1
16-68847399-G-C c.1320+1G>C - IntronicSNV - 9/15 1
16-68847399-G-T c.1320+1G>T - IntronicSNV - 9/15 2
16-68847403-G-A c.1320+5G>A - IntronicSNV - 9/15 1
16-68847405-A-G c.1320+7A>G - IntronicSNV - 9/15 1
16-68847433-C-T c.1320+35C>T - IntronicSNV - 9/15 1
16-68847576-A-G c.1320+178A>G - IntronicSNV - 9/15 1
16-68847584-T-C c.1320+186T>C - IntronicSNV - 9/15 3
16-68847584-T-G c.1320+186T>G - IntronicSNV - 9/15 3
16-68849431-A-C c.1334A>C p.Glu445Ala Missense 10/16 - 1
16-68849442-C-T c.1345C>T p.Gln449* Nonsense 10/16 - 1
16-68849445-T-A c.1348T>A p.Tyr450Asn Missense 10/16 - 1
16-68849456-C-T c.1359C>T p.His453His Synonymous 10/16 - 1
16-68849457-G-A c.1360G>A p.Val454Ile Missense 10/16 - 1
16-68849458-GTAG-G c.1361_1363del p.Val454del InFrameDeletion 10/16 - 1
16-68849458-T-A c.1361T>A p.Val454Glu Missense 10/16 - 1
16-68849463-G-A c.1366G>A p.Val456Met Missense 10/16 - 1
16-68849470-A-T c.1373A>T p.Asn458Ile Missense 10/16 - 1
16-68849472-G-A c.1375G>A p.Val459Met Missense 10/16 - 1
16-68849477-TA-T c.1380del p.Pro461Leufs*20 Frameshift 10/16 - 3
16-68849481-T-C c.1384T>C p.Phe462Leu Missense 10/16 - 1
16-68849483-T-A c.1386T>A p.Phe462Leu Missense 10/16 - 1
16-68849483-T-G c.1386T>G p.Phe462Leu Missense 10/16 - 1
16-68849483-TT-T c.1386del p.Phe462Leufs*19 Frameshift 10/16 - 2
16-68849484-G-C c.1387G>C p.Glu463Gln Missense 10/16 - 2
16-68849484-G-T c.1387G>T p.Glu463* Nonsense 10/16 - 1
16-68849501-CC-C c.1404del p.Ser469Profs*12 Frameshift 10/16 - 2
16-68849506-C-T c.1409C>T p.Thr470Ile Missense 10/16 - 3
16-68849513-C-T c.1416C>T p.Thr472Thr Synonymous 10/16 - 1
16-68849514-G-A c.1417G>A p.Val473Ile Missense 10/16 - 2
16-68849515-T-A c.1418T>A p.Val473Asp Missense 10/16 - 1
16-68849519-C-T c.1422C>T p.Thr474Thr Synonymous 10/16 - 1
16-68849520-G-A c.1423G>A p.Val475Met Missense 10/16 - 1
16-68849530-T-C c.1433T>C p.Leu478Pro Missense 10/16 - 1
16-68849533-A-G c.1436A>G p.Asp479Gly Missense 10/16 - 1
16-68849553-T-G c.1456T>G p.Phe486Val Missense 10/16 - 1
16-68849557-T-C c.1460T>C p.Val487Ala Missense 10/16 - 3
16-68849563-C-CC c.1466dup p.Glu490* Nonsense 10/16 - 1
16-68849563-C-T c.1466C>T p.Pro489Leu Missense 10/16 - 1
16-68849565-G-A c.1468G>A p.Glu490Lys Missense 10/16 - 1
16-68849565-GA-AC c.1468_1469delinsAC p.Glu490Thr Missense 10/16 - 1
16-68849567-AAAAGAGAGTGGAAG-A c.1470_1483del p.Glu490Aspfs*42 Frameshift 10/16 - 1
16-68849569-A-AA c.1472dup p.Arg492Glufs*45 Frameshift 10/16 - 1
16-68849573-GA-G c.1476del p.Val493Trpfs*29 Frameshift 10/16 - 1
16-68849574-G-A c.1477G>A p.Val493Met Missense 10/16 - 1
16-68849574-G-C c.1477G>C p.Val493Leu Missense 10/16 - 1
16-68849575-T-C c.1478T>C p.Val493Ala Missense 10/16 - 1
16-68849575-T-G c.1478T>G p.Val493Gly Missense 10/16 - 1
16-68849586-CG-C c.1489del p.Glu497Argfs*25 Frameshift 10/16 - 1
16-68849586-G-A c.1489G>A p.Glu497Lys Missense 10/16 - 4
16-68849591-C-A c.1494C>A p.Asp498Glu Missense 10/16 - 1
16-68849591-C-T c.1494C>T p.Asp498Asp Synonymous 10/16 - 1
16-68849598-G-A c.1501G>A p.Val501Met Missense 10/16 - 2
16-68849598-G-T c.1501G>T p.Val501Leu Missense 10/16 - 1
16-68849604-C-T c.1507C>T p.Gln503* Nonsense 10/16 - 1
16-68849609-A-C c.1512A>C p.Glu504Asp Missense 10/16 - 1
16-68849609-A-T c.1512A>T p.Glu504Asp Missense 10/16 - 1
16-68849611-T-C c.1514T>C p.Ile505Thr Missense 10/16 - 1
16-68849625-G-A c.1528G>A p.Ala510Thr Missense 10/16 - 1
16-68849628-C-T c.1531C>T p.Gln511* Nonsense 10/16 - 2
16-68849638-A-G c.1541A>G p.Asp514Gly Missense 10/16 - 1
16-68849662-C-A c.1565C>A p.Thr522Lys Missense 10/16 - 1
16-68849662-C-T c.1565C>T p.Thr522Ile Missense 10/16 - 2
16-68849663-G-A c.1565+1G>A - IntronicSNV - 10/15 10
16-68849663-G-C c.1565+1G>C - IntronicSNV - 10/15 2
16-68849663-G-T c.1565+1G>T - IntronicSNV - 10/15 4
16-68849664-T-TT c.1565+2dup - IntronicInsertion - 10/15 3
16-68849837-C-T c.1565+175C>T - IntronicSNV - 10/15 2
16-68849904-A-G c.1565+242A>G - IntronicSNV - 10/15 1
16-68850384-C-T c.1565+722C>T - IntronicSNV - 10/15 1
16-68850406-A-T c.1565+744A>T - IntronicSNV - 10/15 1
16-68850783-A-G c.1565+1121A>G - IntronicSNV - 10/15 4
16-68852074-T-C c.1566-1109T>C - IntronicSNV - 10/15 1
16-68852074-T-G c.1566-1109T>G - IntronicSNV - 10/15 1
16-68852748-G-A c.1566-435G>A - IntronicSNV - 10/15 1
16-68853103-C-A c.1566-80C>A - IntronicSNV - 10/15 2
16-68853103-C-G c.1566-80C>G - IntronicSNV - 10/15 2
16-68853185-A-G c.1568A>G p.Tyr523Cys Missense 11/16 - 2
16-68853194-G-A c.1577G>A p.Trp526* Nonsense 11/16 - 1
16-68853202-A-C c.1585A>C p.Thr529Pro Missense 11/16 - 1
16-68853202-A-G c.1585A>G p.Thr529Ala Missense 11/16 - 2
16-68853204-CT-C c.1587del p.Ala530Profs*27 Frameshift 11/16 - 1
16-68853212-G-A c.1595G>A p.Trp532* Nonsense 11/16 - 3
16-68853213-G-A c.1596G>A p.Trp532* Nonsense 11/16 - 3
16-68853213-G-T c.1596G>T p.Trp532Cys Missense 11/16 - 2
16-68853220-A-C c.1603A>C p.Ile535Leu Missense 11/16 - 1
16-68853227-C-T c.1610C>T p.Pro537Leu Missense 11/16 - 1
16-68853229-GG-G c.1612del p.Asp538Thrfs*19 Frameshift 11/16 - 2
16-68853230-A-G c.1613A>G p.Asp538Gly Missense 11/16 - 1
16-68853231-C-A c.1614C>A p.Asp538Glu Missense 11/16 - 1
16-68853236-G-GG c.1619dup p.Ala541Cysfs*7 Frameshift 11/16 - 1
16-68853238-G-A c.1621G>A p.Ala541Thr Missense 11/16 - 1
16-68853250-C-T c.1633C>T p.Arg545Trp Missense 11/16 - 1
16-68853256-G-T c.1639G>T p.Glu547* Nonsense 11/16 - 1
16-68853262-G-T c.1645G>T p.Asp549Tyr Missense 11/16 - 1
16-68853263-A-C c.1646A>C p.Asp549Ala Missense 11/16 - 1
16-68853268-GG-G c.1651del p.Glu551Argfs*6 Frameshift 11/16 - 1
16-68853283-G-C c.1666G>C p.Val556Leu Missense 11/16 - 1
16-68853283-G-T c.1666G>T p.Val556Leu Missense 11/16 - 1
16-68853288-G-C c.1671G>C p.Lys557Asn Missense 11/16 - 1
16-68853293-G-A c.1676G>A p.Ser559Asn Missense 11/16 - 3
16-68853296-C-G c.1679C>G p.Thr560Arg Missense 11/16 - 9
16-68853296-C-T c.1679C>T p.Thr560Met Missense 11/16 - 1
16-68853297-G-A c.1680G>A p.Thr560Thr Synonymous 11/16 - 3
16-68853297-G-C c.1680G>C p.Thr560Thr Synonymous 11/16 - 4
16-68853297-G-T c.1680G>T p.Thr560Thr Synonymous 11/16 - 3
16-68853299-A-AA c.1682dup p.Tyr561* Nonsense 11/16 - 1
16-68853306-C-A c.1689C>A p.Ala563Ala Synonymous 11/16 - 1
16-68853306-C-G c.1689C>G p.Ala563Ala Synonymous 11/16 - 1
16-68853306-C-T c.1689C>T p.Ala563Ala Synonymous 11/16 - 1
16-68853320-C-G c.1703C>G p.Thr568Arg Missense 11/16 - 1
16-68853327-T-C c.1710T>C p.Asn570Asn Synonymous 11/16 - 2
16-68853328-G-A c.1711G>A p.Gly571Ser Missense 11/16 - 1
16-68853329-G-GG c.1711+1dup - SpliceDonorInsertion - 11/15 1
16-68853330-GTAAGGG-G c.1711+2_1711+7del - IntronicDeletion - 11/15 1
16-68853333-G-A c.1711+5G>A - IntronicSNV - 11/15 1
16-68853671-C-T c.1711+343C>T - IntronicSNV - 11/15 5
16-68854135-T-C c.1711+807T>C - IntronicSNV - 11/15 1
16-68854703-G-C c.1712-1201G>C - IntronicSNV - 11/15 1
16-68855064-A-G c.1712-840A>G - IntronicSNV - 11/15 1
16-68855852-G-C c.1712-52G>C - IntronicSNV - 11/15 1
16-68855885-T-C c.1712-19T>C - IntronicSNV - 11/15 1
16-68855902-A-C c.1712-2A>C - IntronicSNV - 11/15 1
16-68855903-G-A c.1712-1G>A - IntronicSNV - 11/15 1
16-68855915-G-C c.1723G>C p.Ala575Pro Missense 12/16 - 1
16-68855925-C-CC c.1733dup p.Gly579Argfs*9 Frameshift 12/16 - 1
16-68855934-T-C c.1742T>C p.Leu581Pro Missense 12/16 - 1
16-68855939-CTG-ATC c.1747_1749delinsATC p.Leu583Ile Missense 12/16 - 3
16-68855940-T-C c.1748T>C p.Leu583Pro Missense 12/16 - 1
16-68855940-T-G c.1748T>G p.Leu583Arg Missense 12/16 - 5
16-68855951-G-T c.1759G>T p.Asp587Tyr Missense 12/16 - 1
16-68855955-GTG-G c.1763_1764del p.Val588Glufs*2 Frameshift 12/16 - 2
16-68855958-A-C c.1766A>C p.Asn589Thr Missense 12/16 - 1
16-68855958-A-G c.1766A>G p.Asn589Ser Missense 12/16 - 2
16-68855958-A-T c.1766A>T p.Asn589Ile Missense 12/16 - 2
16-68855966-G-A c.1774G>A p.Ala592Thr Missense 12/16 - 35
16-68855966-G-C c.1774G>C p.Ala592Pro Missense 12/16 - 1
16-68855966-G-T c.1774G>T p.Ala592Ser Missense 12/16 - 12
16-68855981-C-T c.1789C>T p.Pro597Ser Missense 12/16 - 1
16-68855984-C-G c.1792C>G p.Arg598Gly Missense 12/16 - 1
16-68855984-C-T c.1792C>T p.Arg598* Nonsense 12/16 - 15
16-68855985-G-A c.1793G>A p.Arg598Gln Missense 12/16 - 5
16-68855987-A-G c.1795A>G p.Thr599Ala Missense 12/16 - 1
16-68855988-C-G c.1796C>G p.Thr599Ser Missense 12/16 - 3
16-68855992-A-G c.1800A>G p.Ile600Met Missense 12/16 - 1
16-68856005-A-G c.1813A>G p.Arg605Gly Missense 12/16 - 1
16-68856020-C-T c.1828C>T p.Gln610* Nonsense 12/16 - 2
16-68856032-A-G c.1840A>G p.Ile614Val Missense 12/16 - 1
16-68856041-G-A c.1849G>A p.Ala617Thr Missense 12/16 - 26
16-68856041-G-T c.1849G>T p.Ala617Ser Missense 12/16 - 8
16-68856068-T-G c.1876T>G p.Phe626Val Missense 12/16 - 3
16-68856079-A-AA c.1887dup p.Leu630Thrfs*33 Frameshift 12/16 - 1
16-68856080-C-G c.1888C>G p.Leu630Val Missense 12/16 - 14
16-68856085-A-AA c.1893dup p.His632Thrfs*31 Frameshift 12/16 - 1
16-68856085-A-C c.1893A>C p.Thr631Thr Synonymous 12/16 - 1
16-68856085-A-T c.1893A>T p.Thr631Thr Synonymous 12/16 - 1
16-68856088-C-G c.1896C>G p.His632Gln Missense 12/16 - 4
16-68856088-C-T c.1896C>T p.His632His Synonymous 12/16 - 9
16-68856093-C-T c.1901C>T p.Ala634Val Missense 12/16 - 17
16-68856105-G-A c.1913G>A p.Trp638* Nonsense 12/16 - 8
16-68856106-G-A c.1914G>A p.Trp638* Nonsense 12/16 - 6
16-68856108-CC-TG c.1916_1917delinsTG p.Thr639Met Missense 12/16 - 1
16-68856113-C-T c.1921C>T p.Gln641* Nonsense 12/16 - 4
16-68856122-G-A c.1930G>A p.Asp644Asn Missense 12/16 - 1
16-68856122-G-C c.1930G>C p.Asp644His Missense 12/16 - 1
16-68856129-G-C c.1936+1G>C - IntronicSNV - 12/15 1
16-68856951-A-G c.1937-351A>G - IntronicSNV - 12/15 1
16-68857000-G-A c.1937-302G>A - IntronicSNV - 12/15 6
16-68857191-C-A c.1937-111C>A - IntronicSNV - 12/15 1
16-68857277-C-A c.1937-25C>A - IntronicSNV - 12/15 1
16-68857277-C-G c.1937-25C>G - IntronicSNV - 12/15 1
16-68857289-T-C c.1937-13T>C - IntronicSNV - 12/15 14
16-68857304-C-T c.1939C>T p.Gln647* Nonsense 13/16 - 1
16-68857307-G-T c.1942G>T p.Glu648* Nonsense 13/16 - 3
16-68857326-C-T c.1961C>T p.Pro654Leu Missense 13/16 - 1
16-68857329-AA-A c.1964del p.Lys655Argfs*4 Frameshift 13/16 - 1
16-68857330-AG-A c.1965del p.Met656Trpfs*3 Frameshift 13/16 - 1
16-68857331-AT-TG c.1966_1967delinsTG p.Met656Trp Missense 13/16 - 1
16-68857335-C-G c.1970C>G p.Ala657Gly Missense 13/16 - 1
16-68857340-G-A c.1975G>A p.Glu659Lys Missense 13/16 - 1
16-68857340-G-C c.1975G>C p.Glu659Gln Missense 13/16 - 1
16-68857343-G-A c.1978G>A p.Val660Met Missense 13/16 - 1
16-68857351-C-G c.1986C>G p.Asp662Glu Missense 13/16 - 1
16-68857353-A-G c.1988A>G p.Tyr663Cys Missense 13/16 - 1
16-68857354-C-CT c.1989_1990insT p.Lys664* Nonsense 13/16 - 1
16-68857361-A-C c.1996A>C p.Asn666His Missense 13/16 - 1
16-68857371-T-A c.2006T>A p.Leu669His Missense 13/16 - 1
16-68857389-A-G c.2024A>G p.Lys675Arg Missense 13/16 - 1
16-68857393-C-A c.2028C>A p.Asp676Glu Missense 13/16 - 2
16-68857394-C-T c.2029C>T p.Gln677* Nonsense 13/16 - 3
16-68857398-T-C c.2033T>C p.Val678Ala Missense 13/16 - 1
16-68857403-A-G c.2038A>G p.Thr680Ala Missense 13/16 - 1
16-68857417-C-T c.2052C>T p.Ser684Ser Synonymous 13/16 - 1
16-68857421-T-C c.2056T>C p.Cys686Arg Missense 13/16 - 1
16-68857423-GTG-G c.2058_2059del p.Cys686* Frameshift 13/16 - 1
16-68857429-GTG-G c.2064_2065del p.Cys688* Frameshift 13/16 - 1
16-68857436-G-A c.2071G>A p.Ala691Thr Missense 13/16 - 1
16-68857438-C-T c.2073C>T p.Ala691Ala Synonymous 13/16 - 1
16-68857439-G-A c.2074G>A p.Ala692Thr Missense 13/16 - 1
16-68857440-C-T c.2075C>T p.Ala692Val Missense 13/16 - 1
16-68857441-T-A c.2076T>A p.Ala692Ala Synonymous 13/16 - 9
16-68857441-T-C c.2076T>C p.Ala692Ala Synonymous 13/16 - 38
16-68857441-T-G c.2076T>G p.Ala692Ala Synonymous 13/16 - 9
16-68857442-G-A c.2077G>A p.Gly693Ser Missense 13/16 - 2
16-68857445-G-A c.2080G>A p.Val694Ile Missense 13/16 - 3
16-68857448-T-C c.2083T>C p.Cys695Arg Missense 13/16 - 2
16-68857460-C-A c.2095C>A p.Gln699Lys Missense 13/16 - 1
16-68857460-C-G c.2095C>G p.Gln699Glu Missense 13/16 - 1
16-68857460-C-T c.2095C>T p.Gln699* Nonsense 13/16 - 4
16-68857465-CT-C c.2100del p.Val701Serfs*21 Frameshift 13/16 - 2
16-68857469-G-A c.2104G>A p.Glu702Lys Missense 13/16 - 3
16-68857469-G-C c.2104G>C p.Glu702Gln Missense 13/16 - 1
16-68857469-G-T c.2104G>T p.Glu702* Nonsense 13/16 - 1
16-68857479-TG-GT c.2114_2115delinsGT p.Leu705Cys Missense 13/16 - 1
16-68857479-TT-T c.2114del p.Leu705Cysfs*17 Frameshift 13/16 - 1
16-68857481-CA-GC c.2116_2117delinsGC p.Gln706Ala Missense 13/16 - 1
16-68857481-C-T c.2116C>T p.Gln706* Nonsense 13/16 - 1
16-68857496-C-G c.2131C>G p.Leu711Val Missense 13/16 - 1
16-68857500-G-C c.2135G>C p.Gly712Ala Missense 13/16 - 1
16-68857508-G-T c.2143G>T p.Gly715* Nonsense 13/16 - 1
16-68857514-AT-GC c.2149_2150delinsGC p.Ile717Ala Missense 13/16 - 1
16-68857520-TG-T c.2155del p.Ala719Leufs*3 Frameshift 13/16 - 1
16-68857526-C-G c.2161C>G p.Leu721Val Missense 13/16 - 3
16-68857530-G-C c.2164+1G>C - IntronicSNV - 13/15 1
16-68857531-T-A c.2164+2T>A - IntronicSNV - 13/15 2
16-68857534-G-C c.2164+5G>C - IntronicSNV - 13/15 1
16-68857546-A-AA c.2164+17dup - IntronicInsertion - 13/15 2
16-68857755-CCAGGTTTCTTCTACCTTGTCTCTTTTCATTCTTCAAGACAGTGCATCCCAAGCTTGAGA-C c.2164+226_2164+284del - Unclassified - 13/15 1
16-68857851-A-T c.2164+322A>T - IntronicSNV - 13/15 1
16-68860067-T-A c.2165-2010T>A - IntronicSNV - 13/15 1
16-68860698-A-G c.2165-1379A>G - IntronicSNV - 13/15 1
16-68861656-T-C c.2165-421T>C - IntronicSNV - 13/15 4
16-68861864-G-A c.2165-213G>A - IntronicSNV - 13/15 2
16-68861904-G-A c.2165-173G>A - IntronicSNV - 13/15 1
16-68862088-C-G c.2176C>G p.Leu726Val Missense 14/16 - 1
16-68862090-G-A c.2178G>A p.Leu726Leu Synonymous 14/16 - 1
16-68862099-G-GG c.2187dup p.Phe730Valfs*18 Frameshift 14/16 - 1
16-68862103-C-T c.2191C>T p.Leu731Phe Missense 14/16 - 1
16-68862107-G-A c.2195G>A p.Arg732Gln Missense 14/16 - 8
16-68862116-C-T c.2204C>T p.Ala735Val Missense 14/16 - 2
16-68862117-G-A c.2205G>A p.Ala735Ala Synonymous 14/16 - 1
16-68862117-G-C c.2205G>C p.Ala735Ala Synonymous 14/16 - 1
16-68862125-A-C c.2213A>C p.Lys738Thr Missense 14/16 - 1
16-68862130-C-G c.2218C>G p.Pro740Ala Missense 14/16 - 1
16-68862130-C-T c.2218C>T p.Pro740Ser Missense 14/16 - 1
16-68862132-CC-C c.2220del p.Leu741Tyrfs*29 Frameshift 14/16 - 1
16-68862138-G-A c.2226G>A p.Leu742Leu Synonymous 14/16 - 1
16-68862144-A-G c.2232A>G p.Pro744Pro Synonymous 14/16 - 1
16-68862145-G-T c.2233G>T p.Glu745* Nonsense 14/16 - 1
16-68862157-C-T c.2245C>T p.Arg749Trp Missense 14/16 - 7
16-68862158-G-A c.2246G>A p.Arg749Gln Missense 14/16 - 1
16-68862158-G-T c.2246G>T p.Arg749Leu Missense 14/16 - 1
16-68862160-G-A c.2248G>A p.Asp750Asn Missense 14/16 - 1
16-68862165-C-A c.2253C>A p.Asn751Lys Missense 14/16 - 11
16-68862165-C-G c.2253C>G p.Asn751Lys Missense 14/16 - 11
16-68862165-C-T c.2253C>T p.Asn751Asn Synonymous 14/16 - 20
16-68862166-G-A c.2254G>A p.Val752Ile Missense 14/16 - 2
16-68862177-T-A c.2265T>A p.Tyr755* Nonsense 14/16 - 2
16-68862178-G-T c.2266G>T p.Asp756Tyr Missense 14/16 - 1
16-68862181-G-A c.2269G>A p.Glu757Lys Missense 14/16 - 4
16-68862187-G-T c.2275G>T p.Gly759* Nonsense 14/16 - 2
16-68862193-G-A c.2281G>A p.Gly761Arg Missense 14/16 - 1
16-68862194-G-A c.2282G>A p.Gly761Glu Missense 14/16 - 1
16-68862196-G-T c.2284G>T p.Glu762* Nonsense 14/16 - 1
16-68862199-G-T c.2287G>T p.Glu763* Nonsense 14/16 - 4
16-68862204-C-T c.2292C>T p.Asp764Asp Synonymous 14/16 - 1
16-68862209-T-G c.2295+2T>G - IntronicSNV - 14/15 1
16-68862597-T-C c.2295+390T>C - IntronicSNV - 14/15 5
16-68862647-A-C c.2295+440A>C - IntronicSNV - 14/15 2
16-68862695-T-A c.2295+488T>A - IntronicSNV - 14/15 1
16-68862695-T-C c.2295+488T>C - IntronicSNV - 14/15 1
16-68862915-A-C c.2296-642A>C - IntronicSNV - 14/15 2
16-68862941-G-A c.2296-616G>A - IntronicSNV - 14/15 6
16-68862941-G-C c.2296-616G>C - IntronicSNV - 14/15 6
16-68863314-T-C c.2296-243T>C - IntronicSNV - 14/15 3
16-68863383-T-A c.2296-174T>A - IntronicSNV - 14/15 1
16-68863412-C-T c.2296-145C>T - IntronicSNV - 14/15 1
16-68863557-G-C c.2296G>C p.Asp766His Missense 15/16 - 1
16-68863559-C-T c.2298C>T p.Asp766Asp Synonymous 15/16 - 1
16-68863561-T-C c.2300T>C p.Phe767Ser Missense 15/16 - 1
16-68863568-G-C c.2307G>C p.Leu769Phe Missense 15/16 - 1
16-68863568-G-T c.2307G>T p.Leu769Phe Missense 15/16 - 1
16-68863571-C-T c.2310C>T p.Ser770Ser Synonymous 15/16 - 1
16-68863572-CC-C c.2311del p.Gln771Serfs*12 Frameshift 15/16 - 1
16-68863572-C-T c.2311C>T p.Gln771* Nonsense 15/16 - 1
16-68863576-T-C c.2315T>C p.Leu772Pro Missense 15/16 - 1
16-68863575-C-T c.2314C>T p.Leu772Leu Synonymous 15/16 - 2
16-68863581-AG-CT c.2320_2321inv p.Arg774Leu Missense 15/16 - 1
16-68863587-C-A c.2326C>A p.Leu776Met Missense 15/16 - 1
16-68863590-G-A c.2329G>A p.Asp777Asn Missense 15/16 - 5
16-68863590-GGACGCTCGGCCTG-G c.2329_2341del p.Asp777Lysfs*2 Frameshift 15/16 - 1
16-68863592-C-T c.2331C>T p.Asp777Asp Synonymous 15/16 - 1
16-68863594-GC-G c.2333del p.Ala778Valfs*5 Frameshift 15/16 - 1
16-68863597-G-A c.2336G>A p.Arg779Gln Missense 15/16 - 2
16-68863600-C-T c.2339C>T p.Pro780Leu Missense 15/16 - 1
16-68863604-A-T c.2343A>T p.Glu781Asp Missense 15/16 - 6
16-68863607-G-A c.2346G>A p.Val782Val Synonymous 15/16 - 1
16-68863612-G-A c.2351G>A p.Arg784His Missense 15/16 - 2
16-68863616-C-T c.2355C>T p.Asn785Asn Synonymous 15/16 - 1
16-68863617-G-A c.2356G>A p.Asp786Asn Missense 15/16 - 1
16-68863619-C-T c.2358C>T p.Asp786Asp Synonymous 15/16 - 1
16-68863620-G-A c.2359G>A p.Val787Ile Missense 15/16 - 2
16-68863624-C-T c.2363C>T p.Ala788Val Missense 15/16 - 1
16-68863629-A-G c.2368A>G p.Thr790Ala Missense 15/16 - 1
16-68863630-CC-TG c.2369_2370delinsTG p.Thr790Met Missense 15/16 - 2
16-68863630-C-T c.2369C>T p.Thr790Ile Missense 15/16 - 2
16-68863632-C-T c.2371C>T p.Leu791Phe Missense 15/16 - 1
16-68863641-G-A c.2380G>A p.Val794Ile Missense 15/16 - 1
16-68863647-C-CC c.2386dup p.Arg796Profs*11 Frameshift 15/16 - 2
16-68863648-G-A c.2387G>A p.Arg796Gln Missense 15/16 - 4
16-68863653-C-G c.2392C>G p.Leu798Val Missense 15/16 - 1
16-68863655-T-C c.2394T>C p.Leu798Leu Synonymous 15/16 - 1
16-68863657-C-G c.2396C>G p.Pro799Arg Missense 15/16 - 6
16-68863659-CC-C c.2398del p.Arg800Alafs*16 Frameshift 15/16 - 7
16-68863659-C-T c.2398C>T p.Arg800Cys Missense 15/16 - 2
16-68863660-CG-C c.2399del p.Arg800Profs*16 Frameshift 15/16 - 2
16-68863660-G-C c.2399G>C p.Arg800Pro Missense 15/16 - 1
16-68863661-C-A c.2400C>A p.Arg800Arg Synonymous 15/16 - 1
16-68863661-C-G c.2400C>G p.Arg800Arg Synonymous 15/16 - 1
16-68863661-C-T c.2400C>T p.Arg800Arg Synonymous 15/16 - 1
16-68863668-AA-GC c.2407_2408delinsGC p.Asn803Ala Missense 15/16 - 1
16-68863674-G-A c.2413G>A p.Asp805Asn Missense 15/16 - 7
16-68863677-G-A c.2416G>A p.Glu806Lys Missense 15/16 - 1
16-68863677-G-T c.2416G>T p.Glu806* Nonsense 15/16 - 1
16-68863685-A-AT c.2424_2425insT p.Asn809* Nonsense 15/16 - 1
16-68863687-AAT-A c.2426_2427del p.Asn809Ilefs*3 Frameshift 15/16 - 3
16-68863691-TT-T c.2430del p.Phe810Leufs*6 Frameshift 15/16 - 3
16-68863701-G-C c.2439+1G>C - IntronicSNV - 15/15 1
16-68863705-AGTAA-A c.2439+5_2439+8del - IntronicDeletion - 15/15 2
16-68863710-C-T c.2439+10C>T - IntronicSNV - 15/15 2
16-68863752-G-A c.2439+52G>A - IntronicSNV - 15/15 5
16-68863756-T-G c.2439+56T>G - IntronicSNV - 15/15 1
16-68863862-C-T c.2439+162C>T - IntronicSNV - 15/15 1
16-68863863-T-C c.2439+163T>C - IntronicSNV - 15/15 1
16-68864430-A-G c.2439+730A>G - IntronicSNV - 15/15 1
16-68867187-C-G c.2440-6C>G - IntronicSNV - 15/15 3
16-68867187-C-T c.2440-6C>T - IntronicSNV - 15/15 2
16-68867191-A-G c.2440-2A>G - IntronicSNV - 15/15 1
16-68867199-A-T c.2446A>T p.Lys816* Nonsense 16/16 - 1
16-68867203-C-T c.2450C>T p.Ala817Val Missense 16/16 - 1
16-68867204-G-A c.2451G>A p.Ala817Ala Synonymous 16/16 - 1
16-68867206-C-T c.2453C>T p.Ala818Val Missense 16/16 - 1
16-68867218-C-G c.2465C>G p.Pro822Arg Missense 16/16 - 1
16-68867219-CC-C c.2466del p.Thr823Glnfs*23 Frameshift 16/16 - 1
16-68867227-C-CC c.2474dup p.Pro826Alafs*3 Frameshift 16/16 - 1
16-68867227-C-T c.2474C>T p.Pro825Leu Missense 16/16 - 2
16-68867228-G-A c.2475G>A p.Pro825Pro Synonymous 16/16 - 1
16-68867243-G-GG c.2490dup p.Leu831Alafs*4 Frameshift 16/16 - 1
16-68867247-G-A c.2494G>A p.Val832Met Missense 16/16 - 23
16-68867247-G-C c.2494G>C p.Val832Leu Missense 16/16 - 4
16-68867251-T-A c.2498T>A p.Phe833Tyr Missense 16/16 - 1
16-68867254-A-G c.2501A>G p.Asp834Gly Missense 16/16 - 1
16-68867258-T-C c.2505T>C p.Tyr835Tyr Synonymous 16/16 - 1
16-68867259-G-T c.2506G>T p.Glu836* Nonsense 16/16 - 5
16-68867265-A-G c.2512A>G p.Ser838Gly Missense 16/16 - 8
16-68867271-T-A c.2518T>A p.Ser840Thr Missense 16/16 - 1
16-68867273-C-T c.2520C>T p.Ser840Ser Synonymous 16/16 - 1
16-68867274-G-A c.2521G>A p.Glu841Lys Missense 16/16 - 2
16-68867289-A-C c.2536A>C p.Ser846Arg Missense 16/16 - 1
16-68867293-C-T c.2540C>T p.Ser847Phe Missense 16/16 - 1
16-68867302-TCC-T c.2549_2550del p.Ser850Phefs*10 Frameshift 16/16 - 1
16-68867305-C-A c.2552C>A p.Ser851* Nonsense 16/16 - 1
16-68867305-C-G c.2552C>G p.Ser851* Nonsense 16/16 - 1
16-68867309-G-T c.2556G>T p.Glu852Asp Missense 16/16 - 1
16-68867310-T-C c.2557T>C p.Ser853Pro Missense 16/16 - 1
16-68867325-G-C c.2572G>C p.Asp858His Missense 16/16 - 1
16-68867329-A-G c.2576A>G p.Tyr859Cys Missense 16/16 - 1
16-68867331-G-A c.2578G>A p.Asp860Asn Missense 16/16 - 1
16-68867342-C-A c.2589C>A p.Asn863Lys Missense 16/16 - 1
16-68867342-C-T c.2589C>T p.Asn863Asn Synonymous 16/16 - 1
16-68867343-G-A c.2590G>A p.Glu864Lys Missense 16/16 - 1
16-68867347-G-A c.2594G>A p.Trp865* Nonsense 16/16 - 1
16-68867348-G-C c.2595G>C p.Trp865Cys Missense 16/16 - 2
16-68867356-G-A c.2603G>A p.Arg868His Missense 16/16 - 2
16-68867382-G-A c.2629G>A p.Gly877Arg Missense 16/16 - 2
16-68867387-C-A c.2634C>A p.Gly878Gly Synonymous 16/16 - 7
16-68867387-C-G c.2634C>G p.Gly878Gly Synonymous 16/16 - 7
16-68867387-C-T c.2634C>T p.Gly878Gly Synonymous 16/16 - 8
16-68867388-G-A c.2635G>A p.Gly879Ser Missense 16/16 - 5
16-68867388-G-C c.2635G>C p.Gly879Arg Missense 16/16 - 1
16-68867391-G-A c.2638G>A p.Glu880Lys Missense 16/16 - 4
16-68867391-G-C c.2638G>C p.Glu880Gln Missense 16/16 - 3
16-68867396-C-T c.2643C>T p.Asp881Asp Synonymous 16/16 - 1
16-68867397-G-A c.2644G>A p.Asp882Asn Missense 16/16 - 1
16-68867400-T-C c.2647T>C p.*883Glnext*29 Missense 16/16 - 1
16-68867456-C-A c.*54C>A - 3-UTRSNV 16/16 - 16
16-68867456-C-G c.*54C>G - 3-UTRSNV 16/16 - 16
16-68867456-C-T c.*54C>T - 3-UTRSNV 16/16 - 16
16-68867503-G-A c.*101G>A - 3-UTRSNV 16/16 - 1
16-68867611-C-T c.*209C>T - 3-UTRSNV 16/16 - 2
16-68867991-C-T c.*589C>T - 3-UTRSNV 16/16 - 2
16-68868023-C-T c.*621C>T - 3-UTRSNV 16/16 - 1
16-68868072-G-A c.*670G>A - 3-UTRSNV 16/16 - 1
16-68868148-C-A c.*746C>A - 3-UTRSNV 16/16 - 2
16-68868390-G-A c.*988G>A - 3-UTRSNV 16/16 - 1
16-68868522-T-A c.*1120T>A - 3-UTRSNV 16/16 - 12
16-68868522-T-C c.*1120T>C - 3-UTRSNV 16/16 - 12
16-68868522-T-G c.*1120T>G - 3-UTRSNV 16/16 - 12
16-68868578-T-C c.*1176T>C - 3-UTRSNV 16/16 - 1
16-68868578-T-G c.*1176T>G - 3-UTRSNV 16/16 - 1
16-68869064-G-C c.*1662G>C - 3-UTRSNV 16/16 - 1
16-68869396-C-A c.*1994C>A - 3-UTRSNV 16/16 - 1