PKD1 polycystin 1, transient receptor potential channel interacting

Canonical transcript: NM_000296

1025 unique variant annotations were identified in 226 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
16-2139127-A-T c.*601T>A - 3-UTRSNV 46/46 - 5
16-2139750-T-C c.12887A>G p.Lys4296Arg Missense 46/46 - 1
16-2139775-T-C c.12862A>G p.Arg4288Gly Missense 46/46 - 1
16-2139814-G-A c.12823C>T p.Arg4275Trp Missense 46/46 - 1
16-2139828-G-A c.12809C>T p.Pro4270Leu Missense 46/46 - 1
16-2139866-A-AA c.12772dup p.Ser4258Phefs*127 Frameshift 46/46 - 1
16-2139872-G-A c.12765C>T p.Ala4255Ala Synonymous 46/46 - 1
16-2139875-G-A c.12762C>T p.Pro4254Pro Synonymous 46/46 - 1
16-2139890-CCT-TGT c.12746_12747delinsCA p.Arg4249Thr Missense 46/46 - 1
16-2139896-GG-G c.12742del p.Arg4248Alafs*109 Frameshift 46/46 - 1
16-2139900-TG-GC c.12736_12737delinsGC p.Gln4246Ala Missense 46/46 - 1
16-2139901-G-A c.12736C>T p.Gln4246* Nonsense 46/46 - 1
16-2139903-AG-GC c.12733_12734delinsGC p.Leu4245Ala Missense 46/46 - 1
16-2139906-CT-GC c.12730_12731delinsGC p.Ser4244Ala Missense 46/46 - 1
16-2139909-TG-GC c.12727_12728delinsGC p.His4243Ala Missense 46/46 - 1
16-2139913-G-A c.12724C>T p.Leu4242Leu Synonymous 46/46 - 1
16-2139915-TG-GC c.12721_12722delinsGC p.Gln4241Ala Missense 46/46 - 1
16-2139918-TG-GC c.12718_12719delinsGC p.Gln4240Ala Missense 46/46 - 1
16-2139923-CAG-TGT c.12712_12714delinsACA p.Leu4238Thr Missense 46/46 - 1
16-2139923-CAG-GAC c.12712_12714delinsGTC p.Leu4238Val Missense 46/46 - 1
16-2139924-AG-GC c.12712_12713delinsGC p.Leu4238Ala Missense 46/46 - 1
16-2139925-G-A c.12712C>T p.Leu4238Leu Synonymous 46/46 - 2
16-2139929-G-C c.12708C>G p.Tyr4236* Nonsense 46/46 - 1
16-2139929-G-T c.12708C>A p.Tyr4236* Nonsense 46/46 - 1
16-2139930-TA-CG c.12706_12707delinsCG p.Tyr4236Arg Missense 46/46 - 1
16-2139933-A-T c.12704T>A p.Val4235Asp Missense 46/46 - 1
16-2139936-T-G c.12701A>C p.Asp4234Ala Missense 46/46 - 1
16-2139936-TC-CG c.12700_12701delinsCG p.Asp4234Arg Missense 46/46 - 1
16-2139954-AG-GC c.12682_12683delinsGC p.Leu4228Ala Missense 46/46 - 1
16-2139955-G-A c.12682C>T p.Leu4228Phe Missense 46/46 - 5
16-2139958-G-A c.12679C>T p.Arg4227* Nonsense 46/46 - 19
16-2139963-AA-GC c.12673_12674delinsGC p.Phe4225Ala Missense 46/46 - 1
16-2139966-T-G c.12671A>C p.Gln4224Pro Missense 46/46 - 1
16-2139971-G-A c.12666C>T p.Leu4222Leu Synonymous 46/46 - 1
16-2139979-C-A c.12658G>T p.Ala4220Ser Missense 46/46 - 1
16-2139986-CAC-TGT c.12649_12651delinsACA p.Val4217Thr Missense 46/46 - 1
16-2139987-A-G c.12650T>C p.Val4217Ala Missense 46/46 - 1
16-2139993-T-G c.12644A>C p.Gln4215Pro Missense 46/46 - 3
16-2139999-CG-GC c.12637_12638delinsGC p.Arg4213Ala Missense 46/46 - 1
16-2140008-CTCAGGCTCACACCTTGTCCCCAGCCGGC-C c.12605_12632del p.Arg4202Profs*146 Frameshift 46/46 - 1
16-2140010-A-C c.12627T>G p.Pro4209Pro Synonymous 46/46 - 2
16-2140010-AGG-TAA c.12625_12627delinsTTA p.Pro4209Leu Nonsense 46/46 - 1
16-2140010-A-T c.12627T>A p.Pro4209Pro Synonymous 46/46 - 2
16-2140010-A-G c.12627T>C p.Pro4209Pro Synonymous 46/46 - 3
16-2140049-CAG-GAC c.12586_12588delinsGTC p.Leu4196Val Missense 46/46 - 1
16-2140067-G-A c.12570C>T p.Ser4190Ser Synonymous 46/46 - 1
16-2140068-G-A c.12569C>T p.Ser4190Phe Missense 46/46 - 1
16-2140109-T-TT c.12528dup p.Pro4177Thrfs*32 Frameshift 46/46 - 1
16-2140122-G-A c.12515C>T p.Pro4172Leu Missense 46/46 - 1
16-2140135-A-C c.12502T>G p.Ser4168Ala Missense 46/46 - 1
16-2140177-A-C c.12460T>G p.Phe4154Val Missense 46/46 - 1
16-2140189-G-A c.12448C>T p.His4150Tyr Missense 46/46 - 1
16-2140294-C-G c.12433G>C p.Val4145Leu Missense 45/46 - 2
16-2140294-C-T c.12433G>A p.Val4145Ile Missense 45/46 - 3
16-2140307-C-T c.12420G>A p.Met4140Ile Missense 45/46 - 1
16-2140318-G-A c.12409C>T p.Arg4137Cys Missense 45/46 - 4
16-2140321-G-A c.12406C>T p.Leu4136Leu Synonymous 45/46 - 2
16-2140322-GCCTGCGCAG-G c.12403_12411del p.Arg4135_Arg4137del InFrameDeletion 45/46 - 1
16-2140324-CTGCGCAGGA-C c.12395_12403del p.Phe4132_Arg4135delinsTrp MultiAAMissense 45/46 - 1
16-2140378-A-C c.12349T>G p.Tyr4117Asp Missense 45/46 - 1
16-2140417-T-G c.12310A>C p.Ile4104Leu Missense 45/46 - 1
16-2140454-T-G c.12273A>C p.Ala4091Ala Synonymous 45/46 - 3
16-2140454-T-C c.12273A>G p.Ala4091Ala Synonymous 45/46 - 4
16-2140554-G-A c.12173C>T p.Ala4058Val Missense 45/46 - 4
16-2140554-G-C c.12173C>G p.Ala4058Gly Missense 45/46 - 2
16-2140558-AC-A c.12169del p.Val4057Trpfs*140 Frameshift 45/46 - 1
16-2140562-C-T c.12165G>A p.Trp4055* Nonsense 45/46 - 1
16-2140563-C-T c.12164G>A p.Trp4055* Nonsense 45/46 - 1
16-2140591-G-GG c.12136dup p.Leu4046Profs*110 SpliceAcceptorInsertion - - 1
16-2140680-T-C c.12130A>G p.Ile4044Val Missense 44/46 - 5
16-2140686-G-A c.12124C>T p.Leu4042Leu Synonymous 44/46 - 4
16-2140689-G-A c.12121C>T p.Gln4041* Nonsense 44/46 - 1
16-2140693-G-C c.12117C>G p.Tyr4039* Nonsense 44/46 - 1
16-2140693-G-T c.12117C>A p.Tyr4039* Nonsense 44/46 - 1
16-2140698-C-CC c.12112dup p.Ala4038Glyfs*118 Frameshift 44/46 - 1
16-2140709-CA-C c.12101del p.Val4034Glyfs*4 Frameshift 44/46 - 1
16-2140752-G-A c.12058C>T p.Arg4020* Nonsense 44/46 - 1
16-2140782-G-A c.12028C>T p.Gln4010* Nonsense 44/46 - 1
16-2140797-G-A c.12013C>T p.Leu4005Leu Synonymous 44/46 - 1
16-2140800-G-A c.12010C>T p.Gln4004* Nonsense 44/46 - 7
16-2140805-G-C c.12005C>G p.Ala4002Gly Missense 44/46 - 1
16-2140941-G-A c.11944C>T p.Leu3982Leu Synonymous 43/46 - 2
16-2140969-G-A c.11916C>T p.Arg3972Arg Synonymous 43/46 - 1
16-2141013-C-G c.11872G>C p.Ala3958Pro Missense 43/46 - 1
16-2141022-G-GG c.11863dup p.Leu3955Profs*5 Frameshift 43/46 - 1
16-2141040-AGTGCCGTGGCCGCCGTCAGCGCCACC-A c.11820_11845del p.Val3941Glyfs*10 Frameshift 43/46 - 1
16-2141051-G-A c.11834C>T p.Ala3945Val Missense 43/46 - 2
16-2141068-C-T c.11817G>A p.Leu3939Leu Synonymous 43/46 - 1
16-2141133-C-A c.11752G>T p.Ala3918Ser Missense 43/46 - 1
16-2141433-C-CC c.11700dup p.Leu3901Alafs*59 Frameshift 42/46 - 1
16-2141435-G-A c.11698C>T p.Leu3900Leu Synonymous 42/46 - 1
16-2141442-GCGAG-G c.11690_11693del p.Ser3897Cysfs*46 Frameshift 42/46 - 1
16-2141454-G-A c.11679C>T p.Ser3893Ser Synonymous 42/46 - 1
16-2141488-GAGGGCGGCCAGGGCGCGGCCGGC-G c.11623_11645del p.Ala3875Glnfs*77 Frameshift 42/46 - 1
16-2141496-CCAGGGCGCGGCCGGCCGCCGG-C c.11617_11637del p.Pro3873_Leu3879del InFrameDeletion 42/46 - 1
16-2141522-C-A c.11611G>T p.Glu3871* Nonsense 42/46 - 1
16-2141529-C-G c.11604G>C p.Leu3868Leu Synonymous 42/46 - 1
16-2141580-CC-C c.11554del p.Glu3852Serfs*92 Frameshift 42/46 - 1
16-2141588-AC-A c.11545del p.Val3849Cysfs*95 Frameshift 42/46 - 1
16-2141592-G-C c.11541C>G p.Arg3847Arg Synonymous 42/46 - 1
16-2141777-CCC-CCCCCC c.11534+3_11534+5dup - IntronicInsertion - 41/45 1
16-2141779-C-CC c.11534+5dup - IntronicInsertion - 41/45 1
16-2141804-G-A c.11512C>T p.Leu3838Leu Synonymous 41/46 - 3
16-2141807-G-A c.11509C>T p.Gln3837* Nonsense 41/46 - 1
16-2141836-CTCC-C c.11482_11484del p.Glu3828del InFrameDeletion 41/46 - 1
16-2141862-G-T c.11454C>A p.Tyr3818* Nonsense 41/46 - 1
16-2141862-G-C c.11454C>G p.Tyr3818* Nonsense 41/46 - 1
16-2141870-CC-C c.11450del p.Gly3817Alafs*8 Frameshift 41/46 - 1
16-2142077-AC-A c.11379del p.Trp3794Glyfs*31 Frameshift 40/46 - 1
16-2142080-C-G c.11376G>C p.Gly3792Gly Synonymous 40/46 - 1
16-2142083-C-CTC c.11373_11374insAG p.Gly3792Argfs*34 Frameshift 40/46 - 1
16-2142084-CG-C c.11372del p.Ser3791Trpfs*34 Frameshift 40/46 - 1
16-2142101-C-T c.11355G>A p.Glu3785Glu Synonymous 40/46 - 1
16-2142105-C-A c.11351G>T p.Trp3784Leu Missense 40/46 - 1
16-2142109-C-CGTC c.11347_11348insACG p.Val3782_Gly3783insAsp InFrameInsertion 40/46 - 1
16-2142109-CCAACGTCGT-C c.11339_11347del p.Tyr3780_Gly3783delinsCys MultiAAMissense 40/46 - 1
16-2142110-A-ATCGTAA c.11346_11347insTACGAT p.Val3782_Gly3783insTyrAsp InFrameInsertion 40/46 - 1
16-2142111-A-AA c.11346dup p.Gly3783Trpfs*32 Frameshift 40/46 - 1
16-2142112-C-CTTC c.11344_11345insAAG p.Asp3781_Val3782insGlu InFrameInsertion 40/46 - 1
16-2142113-G-T c.11343C>A p.Asp3781Glu Missense 40/46 - 4
16-2142113-G-A c.11343C>T p.Asp3781Asp Synonymous 40/46 - 2
16-2142120-T-TAATCGC c.11335_11336insGCGATT p.Asp3779delinsGlyAspTyr MultiAAMissense 40/46 - 1
16-2142142-GC-G c.11314del p.Ala3772Glnfs*53 Frameshift 40/46 - 1
16-2142171-G-A c.11285C>T p.Pro3762Leu Missense 40/46 - 1
16-2142353-G-A c.11266+128C>T - IntronicSNV - 39/45 1
16-2142490-G-A c.11257C>T p.Leu3753Leu Synonymous 39/46 - 1
16-2142490-G-T c.11257C>A p.Leu3753Met Missense 39/46 - 1
16-2142499-G-C c.11248C>G p.Gln3750Glu Missense 39/46 - 3
16-2142555-A-T c.11192T>A p.Leu3731Gln Missense 39/46 - 1
16-2142573-C-G c.11174G>C p.Trp3725Ser Missense 39/46 - 1
16-2142574-A-G c.11173T>C p.Trp3725Arg Missense 39/46 - 1
16-2143017-G-GT c.11090_11091insA p.Tyr3698Leufs*23 Frameshift 38/46 - 1
16-2143028-G-A c.11080C>T p.His3694Tyr Missense 38/46 - 1
16-2143585-T-C c.10973A>G p.Glu3658Gly Missense 37/46 - 1
16-2143606-AAAGCCGTG-A c.10945_10952del p.His3649Cysfs*69 Frameshift 37/46 - 1
16-2143606-AA-GC c.10951_10952delinsGC p.Phe3651Ala Missense 37/46 - 1
16-2143626-CG-C c.10932del p.Val3645Tyrfs*38 Frameshift 37/46 - 1
16-2143637-G-A c.10921C>T p.Arg3641Cys Missense 37/46 - 1
16-2143665-C-G c.10893G>C p.Glu3631Asp Missense 37/46 - 1
16-2143665-C-A c.10893G>T p.Glu3631Asp Missense 37/46 - 1
16-2143708-A-G c.10850T>C p.Val3617Ala Missense 37/46 - 1
16-2143884-G-GG c.10746dup p.Val3583Argfs*43 Frameshift 36/46 - 1
16-2144027-GA-G c.10616-13del - IntronicDeletion - 35/45 1
16-2144120-G-A c.10588C>T p.Pro3530Ser Missense 35/46 - 1
16-2144123-G-A c.10585C>T p.Gln3529* Nonsense 35/46 - 1
16-2144154-CCAGCTCCCCC-C c.10548_10557del p.Glu3517Hisfs*6 Frameshift 35/46 - 1
16-2144159-C-A c.10549G>T p.Glu3517* Nonsense 35/46 - 1
16-2144171-G-A c.10537C>T p.Gln3513* Nonsense 35/46 - 1
16-2144176-G-A c.10532C>T p.Ala3511Val Missense 35/46 - 4
16-2144180-G-C c.10528C>G p.Leu3510Val Missense 35/46 - 1
16-2144182-G-A c.10526C>T p.Thr3509Met Missense 35/46 - 2
16-2145129-G-T c.10497-918C>A - IntronicSNV - 34/45 1
16-2145373-G-A c.10497-1162C>T - IntronicSNV - 34/45 1
16-2146288-C-T c.10496+861G>A - IntronicSNV - 34/45 1
16-2147325-G-C c.10397C>G p.Ala3466Gly Missense 33/46 - 1
16-2147354-G-A c.10368C>T p.Ser3456Ser Synonymous 33/46 - 1
16-2147354-G-GAGG c.10369_10370insTCC p.Ser3456_Pro3457insLeu InFrameInsertion 33/46 - 1
16-2147399-C-T c.10323G>A p.Ala3441Ala Synonymous 33/46 - 1
16-2147404-G-A c.10318C>T p.Gln3440* Nonsense 33/46 - 1
16-2147479-C-T c.10243G>A p.Gly3415Arg Missense 33/46 - 1
16-2147518-G-A c.10218-14C>T - IntronicSNV - 32/45 1
16-2147728-C-A c.10217+1G>T - IntronicSNV - 32/45 1
16-2147735-G-T c.10211C>A p.Ser3404Tyr Missense 32/46 - 1
16-2147766-G-A c.10180C>T p.Gln3394* Nonsense 32/46 - 1
16-2147845-CC-C c.10167+26del - IntronicDeletion - 31/45 1
16-2147896-GG-G c.10141del p.Leu3381Serfs*15 Frameshift 31/46 - 1
16-2147929-G-A c.10107C>T p.Ser3369Ser Synonymous 31/46 - 1
16-2147949-G-A c.10087C>T p.Gln3363* Nonsense 31/46 - 1
16-2147952-G-A c.10084C>T p.Gln3362* Nonsense 31/46 - 1
16-2147955-C-T c.10081G>A p.Gly3361Arg Missense 31/46 - 1
16-2147964-GTGG-G c.10071_10073del p.Thr3358del InFrameDeletion 31/46 - 1
16-2147973-G-T c.10063C>A p.Pro3355Thr Missense 31/46 - 1
16-2149591-T-C c.10050+54A>G - IntronicSNV - 30/45 1
16-2149652-C-T c.10043G>A p.Arg3348Gln Missense 30/46 - 3
16-2149697-GACAA-G c.9995_9998del p.Val3332Alafs*63 Frameshift 30/46 - 1
16-2149700-AA-A c.9996del p.Val3333Serfs*63 Frameshift 30/46 - 1
16-2149732-TGT-T c.9965_9966del p.Thr3322Serfs*67 Frameshift 30/46 - 1
16-2149748-C-T c.9947G>A p.Ser3316Asn Missense 30/46 - 1
16-2149774-G-C c.9924-3C>G - IntronicSNV - 29/45 1
16-2149861-C-A c.9923+1G>T - IntronicSNV - 29/45 1
16-2149872-GAG-G c.9914_9915del p.Ser3305Cysfs*84 Frameshift 29/46 - 1
16-2149876-G-C c.9909C>G p.Gly3303Gly Synonymous 29/46 - 1
16-2149876-G-A c.9909C>T p.Gly3303Gly Synonymous 29/46 - 1
16-2149876-G-T c.9909C>A p.Gly3303Gly Synonymous 29/46 - 1
16-2149881-C-G c.9904G>C p.Val3302Leu Missense 29/46 - 1
16-2149891-C-T c.9894G>A p.Trp3298* Nonsense 29/46 - 1
16-2149896-C-T c.9889G>A p.Val3297Met Missense 29/46 - 1
16-2149901-T-C c.9884A>G p.Asn3295Ser Missense 29/46 - 3
16-2149918-G-A c.9867C>T p.Cys3289Cys Synonymous 29/46 - 1
16-2149927-GGAG-G c.9859_9861del p.Leu3287del InFrameDeletion 29/46 - 3
16-2149956-G-A c.9829C>T p.Arg3277Cys Missense 29/46 - 36
16-2149970-C-T c.9815G>A p.Arg3272His Missense 29/46 - 1
16-2149978-CCG-TGT c.9805_9807delinsACA p.Arg3269Thr Missense 29/46 - 3
16-2149979-C-T c.9806G>A p.Arg3269Gln Missense 29/46 - 1
16-2149998-A-G c.9787T>C p.Trp3263Arg Missense 29/46 - 1
16-2150008-TGTCAAAG-T c.9771_9777del p.Phe3257Leufs*57 Frameshift 29/46 - 1
16-2150030-CTCAGC-C c.9755_9759del p.Glu3252Alafs*6 Frameshift 29/46 - 1
16-2150046-G-A c.9739C>T p.Arg3247Cys Missense 29/46 - 2
16-2150054-C-T c.9731G>A p.Arg3244His Missense 29/46 - 1
16-2150067-C-T c.9718G>A p.Ala3240Thr Missense 29/46 - 2
16-2150071-CG-C c.9714del p.Ser3238Argfs*78 Frameshift 29/46 - 1
16-2150137-A-C c.9712+30T>G - IntronicSNV - 28/45 1
16-2150166-C-A c.9712+1G>T - IntronicSNV - 28/45 1
16-2150167-T-TT c.9712dup p.Ser3238Lysfs*15 SpliceDonorInsertion 28/46 - 1
16-2150167-T-TG c.9711_9712insC p.Ser3238Glnfs*15 SpliceDonorInsertion 28/46 - 1
16-2150167-T-TA c.9711_9712insT p.Ser3238* SpliceDonorInsertion 28/46 - 1
16-2150168-C-CC c.9711dup p.Ser3238Glufs*15 SpliceDonorInsertion 28/46 - 1
16-2150181-T-A c.9698A>T p.Glu3233Val Missense 28/46 - 1
16-2150185-T-A c.9694A>T p.Lys3232* Nonsense 28/46 - 1
16-2150185-T-C c.9694A>G p.Lys3232Glu Missense 28/46 - 1
16-2150214-CTC-C c.9666_9667del p.Glu3222Aspfs*30 Frameshift 28/46 - 1
16-2150242-A-C c.9637T>G p.Phe3213Val Missense 28/46 - 1
16-2150263-G-A c.9616C>T p.Gln3206* Nonsense 28/46 - 1
16-2150295-C-T c.9584G>A p.Trp3195* Nonsense 28/46 - 1
16-2150296-A-G c.9583T>C p.Trp3195Arg Missense 28/46 - 1
16-2150296-A-T c.9583T>A p.Trp3195Arg Missense 28/46 - 1
16-2150310-C-A c.9569G>T p.Gly3190Val Missense 28/46 - 1
16-2150323-A-G c.9569-13T>C - IntronicSNV - 27/45 2
16-2150397-C-T c.9568G>A p.Gly3190Arg Missense 27/46 - 1
16-2150401-G-C c.9564C>G p.Asn3188Lys Missense 27/46 - 1
16-2150402-T-A c.9563A>T p.Asn3188Ile Missense 27/46 - 1
16-2150402-T-C c.9563A>G p.Asn3188Ser Missense 27/46 - 3
16-2150403-T-C c.9562A>G p.Asn3188Asp Missense 27/46 - 2
16-2150404-G-T c.9561C>A p.Asp3187Glu Missense 27/46 - 1
16-2150406-TCGT-T c.9559_9561del p.Asp3187del InFrameDeletion 27/46 - 1
16-2150417-C-T c.9548G>A p.Arg3183Gln Missense 27/46 - 4
16-2150426-C-T c.9539G>A p.Trp3180* Nonsense 27/46 - 1
16-2150425-C-T c.9540G>A p.Trp3180* Nonsense 27/46 - 1
16-2150432-C-A c.9533G>T p.Ser3178Ile Missense 27/46 - 1
16-2150459-C-T c.9506G>A p.Arg3169Gln Missense 27/46 - 1
16-2150461-G-C c.9504C>G p.Phe3168Leu Missense 27/46 - 3
16-2150466-T-A c.9499A>T p.Ile3167Phe Missense 27/46 - 2
16-2150474-CT-GA c.9490_9491delinsTC p.Ser3164Ser Missense 27/46 - 1
16-2150474-CT-GC c.9490_9491delinsGC p.Ser3164Ala Missense 27/46 - 1
16-2150480-C-A c.9485G>T p.Arg3162Leu Missense 27/46 - 1
16-2150481-G-A c.9484C>T p.Arg3162Cys Missense 27/46 - 3
16-2150492-TCT-T c.9474_9475del p.Arg3158Serfs*20 Frameshift 27/46 - 1
16-2150509-C-CG c.9455_9456insC p.His3153Alafs*26 Frameshift 27/46 - 1
16-2150553-C-T c.9412G>A p.Val3138Met Missense 27/46 - 2
16-2150558-G-A c.9407C>T p.Ala3136Val Missense 27/46 - 1
16-2150561-G-A c.9404C>T p.Thr3135Met Missense 27/46 - 1
16-2151893-G-C c.9397+169C>G - IntronicSNV - 26/45 1
16-2152071-G-A c.9388C>T p.Arg3130Trp Missense 26/46 - 1
16-2152071-CGGCCCC-C c.9388_9393del p.Arg3130_Gly3131del InFrameDeletion 26/46 - 1
16-2152079-C-G c.9380G>C p.Gly3127Ala Missense 26/46 - 1
16-2152080-C-T c.9379G>A p.Gly3127Ser Missense 26/46 - 1
16-2152082-G-A c.9377C>T p.Thr3126Ile Missense 26/46 - 1
16-2152091-AG-GC c.9367_9368delinsGC p.Leu3123Ala Missense 26/46 - 1
16-2152098-TCGT-T c.9360_9362del p.Tyr3120_Glu3121delins* MultiAAMissense 26/46 - 1
16-2152098-C-T c.9361G>A p.Glu3121Lys Missense 26/46 - 3
16-2152100-T-TT c.9359dup p.Tyr3120* Nonsense 26/46 - 1
16-2152101-A-T c.9358T>A p.Tyr3120Asn Missense 26/46 - 1
16-2152112-C-A c.9347G>T p.Gly3116Val Missense 26/46 - 1
16-2152119-G-A c.9340C>T p.Gln3114* Nonsense 26/46 - 2
16-2152124-C-A c.9335G>T p.Cys3112Phe Missense 26/46 - 1
16-2152129-A-G c.9330T>C p.Pro3110Pro Synonymous 26/46 - 3
16-2152135-G-T c.9324C>A p.Ala3108Ala Synonymous 26/46 - 1
16-2152136-GG-G c.9324del p.Ile3109Serfs*207 Frameshift 26/46 - 1
16-2152146-G-A c.9313C>T p.Arg3105Trp Missense 26/46 - 2
16-2152175-A-G c.9284T>C p.Leu3095Pro Missense 26/46 - 1
16-2152187-A-C c.9272T>G p.Met3091Arg Missense 26/46 - 1
16-2152189-G-A c.9270C>T p.Val3090Val Synonymous 26/46 - 1
16-2152198-G-T c.9261C>A p.Thr3087Thr Synonymous 26/46 - 1
16-2152198-G-A c.9261C>T p.Thr3087Thr Synonymous 26/46 - 1
16-2152198-G-C c.9261C>G p.Thr3087Thr Synonymous 26/46 - 1
16-2152199-G-C c.9260C>G p.Thr3087Ser Missense 26/46 - 1
16-2152218-CAT-C c.9240_9241del p.Ala3082Cysfs*96 Frameshift 26/46 - 3
16-2152218-A-G c.9241T>C p.Cys3081Arg Missense 26/46 - 1
16-2152237-G-C c.9222C>G p.Asn3074Lys Missense 26/46 - 1
16-2152381-C-T c.9201+1G>A - IntronicSNV - 25/45 1
16-2152387-A-G c.9196T>C p.Phe3066Leu Missense 25/46 - 4
16-2152388-C-G c.9195G>C p.Val3065Val Synonymous 25/46 - 4
16-2152391-A-C c.9192T>G p.Phe3064Leu Missense 25/46 - 2
16-2152391-A-T c.9192T>A p.Phe3064Leu Missense 25/46 - 2
16-2152393-A-G c.9190T>C p.Phe3064Leu Missense 25/46 - 2
16-2152396-G-A c.9187C>T p.Arg3063Cys Missense 25/46 - 1
16-2152414-C-T c.9169G>A p.Val3057Met Missense 25/46 - 1
16-2152426-C-T c.9157G>A p.Ala3053Thr Missense 25/46 - 2
16-2152435-C-CC c.9148dup p.Ala3050Glyfs*19 Frameshift 25/46 - 1
16-2152436-GGT-TAA c.9145_9147delinsTTA p.Thr3049Leu Nonsense 25/46 - 1
16-2152437-GT-TG c.9145_9146delinsCA p.Thr3049His Missense 25/46 - 1
16-2152438-T-A c.9145A>T p.Thr3049Ser Missense 25/46 - 1
16-2152437-GT-GG c.9145delinsC p.Thr3049Pro Missense 25/46 - 1
16-2152437-G-C c.9146C>G p.Thr3049Ser Missense 25/46 - 1
16-2152447-G-A c.9136C>T p.Arg3046Cys Missense 25/46 - 2
16-2152456-A-G c.9127T>C p.Cys3043Arg Missense 25/46 - 1
16-2152479-CTCCTCCA-C c.9098_9104del p.Leu3033Argfs*39 Frameshift 25/46 - 1
16-2152488-GGGCAGCAG-G c.9089_9096del p.Leu3030Profs*36 Frameshift 25/46 - 1
16-2152516-T-C c.9067A>G p.Met3023Val Missense 25/46 - 1
16-2152525-C-A c.9058G>T p.Glu3020* Nonsense 25/46 - 2
16-2152531-AA-A c.9053del p.Phe3018Serfs*56 Frameshift 25/46 - 1
16-2152536-T-C c.9047A>G p.Gln3016Arg Missense 25/46 - 7
16-2152540-A-T c.9043T>A p.Cys3015Ser Missense 25/46 - 1
16-2152544-GGGA-G c.9037_9039del p.Ser3013del InFrameDeletion 25/46 - 1
16-2152545-GGACGTG-G c.9034_9039del p.Thr3012_Ser3013del InFrameDeletion 25/46 - 1
16-2152561-C-T c.9022G>A p.Val3008Met Missense 25/46 - 2
16-2152574-C-T c.9009G>A p.Ala3003Ala Synonymous 25/46 - 1
16-2152586-G-GC c.8996_8997insG p.Phe2999Leufs*70 Frameshift 25/46 - 1
16-2152586-GG-G c.8998del p.Arg3000Alafs*74 Frameshift 25/46 - 1
16-2152605-A-G c.8978T>C p.Leu2993Pro Missense 25/46 - 3
16-2152619-C-T c.8964G>A p.Ala2988Ala Synonymous 25/46 - 2
16-2152651-T-C c.8949-17A>G - IntronicSNV - 24/45 2
16-2152798-T-C c.8948+17A>G - IntronicSNV - 24/45 1
16-2152830-GAAG-G c.8935_8937del p.Phe2979del InFrameDeletion 24/46 - 2
16-2152847-G-A c.8916C>T p.Asp2972Asp Synonymous 24/46 - 2
16-2152849-C-T c.8914G>A p.Asp2972Asn Missense 24/46 - 1
16-2152850-A-G c.8913T>C p.Ala2971Ala Synonymous 24/46 - 1
16-2152858-G-A c.8905C>T p.Gln2969* Nonsense 24/46 - 1
16-2152865-C-G c.8898G>C p.Glu2966Asp Missense 24/46 - 1
16-2152903-C-A c.8860G>T p.Glu2954* Nonsense 24/46 - 1
16-2152904-A-AA c.8859dup p.Glu2954* Nonsense 24/46 - 1
16-2152905-T-C c.8858A>G p.Asn2953Ser Missense 24/46 - 1
16-2152920-G-T c.8843C>A p.Ser2948* Nonsense 24/46 - 1
16-2152928-G-C c.8835C>G p.Tyr2945* Nonsense 24/46 - 1
16-2152948-C-A c.8815G>T p.Glu2939* Nonsense 24/46 - 1
16-2152959-G-A c.8804C>T p.Ser2935Phe Missense 24/46 - 1
16-2152966-TAG-T c.8796_8797del p.His2932Glnfs*4 Frameshift 24/46 - 1
16-2152973-T-A c.8792-2A>T - IntronicSNV - 23/45 1
16-2153117-T-C c.8792-146A>G - IntronicSNV - 23/45 1
16-2153271-C-CGCAGCGTATAGTTGAGCTGCAGAT c.8786_8787insATCTGCAGCTCAACTATACGCTGC p.Leu2929_Asp2930insSerAlaAlaGlnLeuTyrAlaAla InFrameInsertion 23/46 - 1
16-2153284-GTTGAG-G c.8772_8776del p.Asn2925Tyrfs*10 Frameshift 23/46 - 1
16-2153296-T-G c.8762A>C p.His2921Pro Missense 23/46 - 1
16-2153308-G-A c.8750C>T p.Ala2917Val Missense 23/46 - 1
16-2153314-T-C c.8744A>G p.Asn2915Ser Missense 23/46 - 1
16-2153342-C-T c.8716G>A p.Gly2906Ser Missense 23/46 - 2
16-2153360-G-A c.8698C>T p.Gln2900* Nonsense 23/46 - 1
16-2153367-CAA-C c.8690_8691del p.Val2897Glyfs*39 Frameshift 23/46 - 1
16-2153383-GTTGGCGGAG-G c.8681_8689del p.Ala2894_Ser2896del InFrameDeletion 23/46 - 2
16-2153414-A-T c.8644T>A p.Trp2882Arg Missense 23/46 - 1
16-2153443-A-C c.8615T>G p.Ile2872Ser Missense 23/46 - 1
16-2153444-AT-A c.8614del p.Ile2872Serfs*3 Frameshift 23/46 - 3
16-2153465-G-A c.8593C>T p.Arg2865Trp Missense 23/46 - 1
16-2153468-C-A c.8590G>T p.Glu2864* Nonsense 23/46 - 1
16-2153480-G-A c.8578C>T p.Gln2860* Nonsense 23/46 - 1
16-2153486-C-T c.8572G>A p.Gly2858Ser Missense 23/46 - 1
16-2153500-A-G c.8558T>C p.Phe2853Ser Missense 23/46 - 3
16-2153510-A-G c.8548T>C p.Ser2850Pro Missense 23/46 - 1
16-2153522-T-G c.8536A>C p.Thr2846Pro Missense 23/46 - 1
16-2153528-C-T c.8530G>A p.Val2844Ile Missense 23/46 - 1
16-2153561-G-A c.8497C>T p.Pro2833Ser Missense 23/46 - 1
16-2153587-T-G c.8471A>C p.Gln2824Pro Missense 23/46 - 1
16-2153594-C-T c.8464G>A p.Val2822Met Missense 23/46 - 3
16-2153611-A-T c.8447T>A p.Leu2816Gln Missense 23/46 - 1
16-2153611-A-G c.8447T>C p.Leu2816Pro Missense 23/46 - 2
16-2153614-G-A c.8444C>T p.Ala2815Val Missense 23/46 - 1
16-2153618-C-T c.8440G>A p.Gly2814Arg Missense 23/46 - 2
16-2153619-G-A c.8439C>T p.Ser2813Ser Synonymous 23/46 - 1
16-2153629-CTCGG-C c.8426_8429del p.Pro2809Argfs*65 Frameshift 23/46 - 1
16-2153630-TCGG-T c.8426_8428del p.Pro2809_Glu2810delinsGln MultiAAMissense 23/46 - 1
16-2153630-C-A c.8428G>T p.Glu2810* Nonsense 23/46 - 2
16-2153638-G-GG c.8421dup p.Ile2808Hisfs*14 Frameshift 23/46 - 1
16-2153653-G-A c.8405C>T p.Pro2802Leu Missense 23/46 - 1
16-2153670-A-T c.8388T>A p.Tyr2796* Nonsense 23/46 - 1
16-2153684-CTCCGCGG-C c.8368_8374del p.Pro2790Alafs*83 Frameshift 23/46 - 1
16-2153686-C-T c.8372G>A p.Arg2791Gln Missense 23/46 - 1
16-2153689-G-A c.8369C>T p.Pro2790Leu Missense 23/46 - 1
16-2153694-C-T c.8364G>A p.Ser2788Ser Synonymous 23/46 - 1
16-2153706-CCT-C c.8351_8352del p.Gln2784Argfs*37 Frameshift 23/46 - 1
16-2153708-G-A c.8350C>T p.Gln2784* Nonsense 23/46 - 1
16-2153711-C-G c.8347G>C p.Ala2783Pro Missense 23/46 - 1
16-2153720-C-A c.8338G>T p.Glu2780* Nonsense 23/46 - 1
16-2153723-C-T c.8335G>A p.Glu2779Lys Missense 23/46 - 1
16-2153747-C-T c.8311G>A p.Glu2771Lys Missense 23/46 - 17
16-2153749-T-A c.8309A>T p.Asn2770Ile Missense 23/46 - 1
16-2153755-CACGC-C c.8302_8305del p.Val2768Serfs*6 Frameshift 23/46 - 1
16-2153756-C-T c.8302G>A p.Val2768Met Missense 23/46 - 2
16-2153759-G-A c.8299C>T p.Arg2767Cys Missense 23/46 - 2
16-2153761-GGAG-G c.8296_8298del p.Ser2766del InFrameDeletion 23/46 - 1
16-2153764-C-T c.8294G>A p.Arg2765His Missense 23/46 - 2
16-2153765-G-A c.8293C>T p.Arg2765Cys Missense 23/46 - 10
16-2153773-GA-G c.8285del p.Ile2762Thrfs*13 Frameshift 23/46 - 1
16-2153788-G-C c.8270C>G p.Ser2757Cys Missense 23/46 - 1
16-2153799-G-C c.8259C>G p.Tyr2753* Nonsense 23/46 - 2
16-2153803-G-T c.8255C>A p.Ala2752Asp Missense 23/46 - 2
16-2153807-G-A c.8251C>T p.Gln2751* Nonsense 23/46 - 1
16-2153834-C-T c.8224G>A p.Glu2742Lys Missense 23/46 - 1
16-2154458-G-A c.8161+41C>T - IntronicSNV - 22/45 1
16-2154460-A-G c.8161+39T>C - IntronicSNV - 22/45 1
16-2154461-C-T c.8161+38G>A - IntronicSNV - 22/45 2
16-2154461-C-G c.8161+38G>C - IntronicSNV - 22/45 1
16-2154461-C-A c.8161+38G>T - IntronicSNV - 22/45 1
16-2154468-G-A c.8161+31C>T - IntronicSNV - 22/45 1
16-2154469-G-C c.8161+30C>G - IntronicSNV - 22/45 1
16-2154470-GC-G c.8161+29del - IntronicDeletion - 22/45 1
16-2154474-T-C c.8161+25A>G - IntronicSNV - 22/45 1
16-2154475-G-C c.8161+24C>G - IntronicSNV - 22/45 1
16-2154476-G-A c.8161+23C>T - IntronicSNV - 22/45 1
16-2154478-A-C c.8161+21T>G - IntronicSNV - 22/45 2
16-2154478-A-G c.8161+21T>C - IntronicSNV - 22/45 2
16-2154498-C-G c.8161+1G>C - IntronicSNV - 22/45 1
16-2154500-CTGT-C c.8158_8160del p.Thr2720del InFrameDeletion 22/46 - 1
16-2154502-T-G c.8158A>C p.Thr2720Pro Missense 22/46 - 1
16-2154531-G-T c.8129C>A p.Thr2710Asn Missense 22/46 - 2
16-2154534-GGGCG-G c.8124_8127del p.Thr2710Profs*45 Frameshift 22/46 - 1
16-2154537-G-A c.8123C>T p.Thr2708Met Missense 22/46 - 2
16-2154549-G-A c.8111C>T p.Ala2704Val Missense 22/46 - 1
16-2154565-G-A c.8095C>T p.Gln2699* Nonsense 22/46 - 2
16-2154573-A-C c.8087T>G p.Leu2696Arg Missense 22/46 - 4
16-2154619-G-A c.8041C>T p.Arg2681Cys Missense 22/46 - 2
16-2154640-G-A c.8020C>T p.Pro2674Ser Missense 22/46 - 2
16-2155246-G-A c.8016+77C>T - IntronicSNV - 21/45 1
16-2155252-C-T c.8016+71G>A - IntronicSNV - 21/45 1
16-2155297-A-G c.8016+26T>C - IntronicSNV - 21/45 2
16-2155323-CC-C c.8016+1del - IntronicDeletion 21/46 - 1
16-2155354-T-TT c.7985dup p.Gln2663Alafs*159 Frameshift 21/46 - 1
16-2155355-G-A c.7984C>T p.Gln2662* Nonsense 21/46 - 2
16-2155361-C-T c.7978G>A p.Asp2660Asn Missense 21/46 - 1
16-2155361-C-A c.7978G>T p.Asp2660Tyr Missense 21/46 - 2
16-2155367-ACA-A c.7973_7974del p.Val2658Glyfs*2 Frameshift 21/46 - 1
16-2155379-T-C c.7960A>G p.Arg2654Gly Missense 21/46 - 1
16-2155392-GAG-G c.7948_7949del p.Leu2650Glyfs*10 Frameshift 21/46 - 1
16-2155399-G-A c.7940C>T p.Thr2647Met Missense 21/46 - 1
16-2155412-CG-C c.7927del p.Arg2643Alafs*11 Frameshift 21/46 - 1
16-2155412-G-A c.7927C>T p.Arg2643Cys Missense 21/46 - 2
16-2155424-G-A c.7915C>T p.Arg2639* Nonsense 21/46 - 3
16-2155425-G-GG c.7915dup p.Arg2639Profs*22 Frameshift 21/46 - 1
16-2155426-T-C c.7913A>G p.His2638Arg Missense 21/46 - 3
16-2155430-G-A c.7909C>T p.Gln2637* Nonsense 21/46 - 2
16-2155472-C-A c.7867G>T p.Glu2623* Nonsense 21/46 - 1
16-2155473-G-C c.7866C>G p.Tyr2622* Nonsense 21/46 - 2
16-2155473-G-A c.7866C>T p.Tyr2622Tyr Synonymous 21/46 - 1
16-2155477-T-C c.7864-2A>G - IntronicSNV - 20/45 1
16-2155819-A-C c.7863+47T>G - IntronicSNV - 20/45 3
16-2155865-C-A c.7863+1G>T - IntronicSNV - 20/45 1
16-2155866-CCTCGT-C c.7859_7863del p.Asn2620Ilefs*39 SpliceDonorDeletion 20/46 - 1
16-2155873-A-G c.7856T>C p.Leu2619Pro Missense 20/46 - 1
16-2155873-A-C c.7856T>G p.Leu2619Arg Missense 20/46 - 1
16-2155894-G-C c.7835C>G p.Ser2612Trp Missense 20/46 - 1
16-2155925-G-A c.7804C>T p.Gln2602* Nonsense 20/46 - 1
16-2155933-A-C c.7796T>G p.Leu2599Arg Missense 20/46 - 1
16-2155968-GCCAG-G c.7761_7764del p.Trp2587Cysfs*32 Frameshift 20/46 - 1
16-2155993-GCCG-G c.7735_7737del p.Gly2579del InFrameDeletion 20/46 - 1
16-2156021-A-G c.7708T>C p.Leu2570Leu Synonymous 20/46 - 3
16-2156037-G-A c.7704-12C>T - IntronicSNV - 19/45 1
16-2156068-G-T c.7703+24C>A - IntronicSNV - 19/45 1
16-2156125-T-C c.7670A>G p.Asp2557Gly Missense 19/46 - 1
16-2156129-G-A c.7666C>T p.Gln2556* Nonsense 19/46 - 7
16-2156153-C-G c.7642G>C p.Glu2548Gln Missense 19/46 - 1
16-2156165-T-A c.7630A>T p.Arg2544Trp Missense 19/46 - 1
16-2156206-C-T c.7589G>A p.Gly2530Asp Missense 19/46 - 2
16-2156208-C-G c.7587G>C p.Lys2529Asn Missense 19/46 - 1
16-2156208-C-A c.7587G>T p.Lys2529Asn Missense 19/46 - 1
16-2156218-ACA-A c.7579_7580del p.Val2527Leufs*67 Frameshift 19/46 - 1
16-2156229-G-T c.7566C>A p.Cys2522* Nonsense 19/46 - 2
16-2156249-G-A c.7546C>T p.Arg2516Cys Missense 19/46 - 1
16-2156282-C-A c.7513G>T p.Gly2505Cys Missense 19/46 - 3
16-2156369-G-A c.7489+30C>T - IntronicSNV - 18/45 1
16-2156404-C-T c.7484G>A p.Cys2495Tyr Missense 18/46 - 1
16-2156405-A-G c.7483T>C p.Cys2495Arg Missense 18/46 - 2
16-2156408-C-T c.7480G>A p.Glu2494Lys Missense 18/46 - 1
16-2156447-G-A c.7441C>T p.Leu2481Leu Synonymous 18/46 - 4
16-2156460-G-C c.7428C>G p.Cys2476Trp Missense 18/46 - 1
16-2156472-C-CC c.7421dup p.Ser2475Leufs*26 Frameshift 18/46 - 1
16-2156488-G-A c.7400C>T p.Pro2467Leu Missense 18/46 - 1
16-2156516-C-A c.7372G>T p.Glu2458* Nonsense 18/46 - 1
16-2156533-GCCCAGCACCGTG-G c.7345_7356del p.Thr2449_Gly2452del InFrameDeletion 18/46 - 1
16-2156564-C-G c.7324G>C p.Glu2442Gln Missense 18/46 - 1
16-2156587-C-T c.7301G>A p.Arg2434Gln Missense 18/46 - 1
16-2156588-G-A c.7300C>T p.Arg2434Trp Missense 18/46 - 3
16-2156591-AGCA-A c.7298_7300del p.Leu2433del InFrameDeletion 18/46 - 2
16-2156600-G-A c.7288C>T p.Arg2430* Nonsense 18/46 - 6
16-2156617-G-A c.7271C>T p.Thr2424Met Missense 18/46 - 1
16-2156620-G-A c.7268C>T p.Ser2423Phe Missense 18/46 - 3
16-2156623-G-T c.7265C>A p.Thr2422Lys Missense 18/46 - 2
16-2156638-A-T c.7250T>A p.Leu2417Gln Missense 18/46 - 1
16-2156647-G-A c.7241C>T p.Thr2414Met Missense 18/46 - 1
16-2156673-C-T c.7215G>A p.Trp2405* Nonsense 18/46 - 1
16-2156674-C-A c.7214G>T p.Trp2405Leu Missense 18/46 - 2
16-2156678-G-A c.7210C>T p.Arg2404Trp Missense 18/46 - 1
16-2156679-C-T c.7210-1G>A - IntronicSNV - 17/45 1
16-2156680-T-C c.7210-2A>G - IntronicSNV - 17/45 1
16-2156688-G-T c.7210-10C>A - IntronicSNV - 17/45 1
16-2156790-C-T c.7209+16G>A - IntronicSNV - 17/45 1
16-2156807-CCCTCGCTTGGAGCCGCTGCTGCAATTGAGGCAGCGGCCCTCCAAGTACACGTAGGAGCT-C c.7150_7208del p.Ser2384Alafs*16 InFrameDeletion 17/46 - 1
16-2156811-G-A c.7204C>T p.Arg2402* Nonsense 17/46 - 2
16-2156831-T-C c.7184A>G p.Asn2395Ser Missense 17/46 - 1
16-2156840-C-G c.7175G>C p.Arg2392Pro Missense 17/46 - 1
16-2156850-A-G c.7165T>C p.Leu2389Leu Synonymous 17/46 - 3
16-2156851-G-C c.7164C>G p.Tyr2388* Nonsense 17/46 - 1
16-2156851-G-T c.7164C>A p.Tyr2388* Nonsense 17/46 - 1
16-2156859-A-AA c.7156dup p.Tyr2386Leufs*34 Frameshift 17/46 - 1
16-2156871-T-G c.7144A>C p.Ser2382Arg Missense 17/46 - 1
16-2156883-C-T c.7132G>A p.Val2378Met Missense 17/46 - 1
16-2156889-G-A c.7126C>T p.Gln2376* Nonsense 17/46 - 1
16-2156896-G-C c.7119C>G p.Cys2373Trp Missense 17/46 - 1
16-2156897-C-T c.7118G>A p.Cys2373Tyr Missense 17/46 - 1
16-2156900-G-C c.7115C>G p.Ser2372Cys Missense 17/46 - 1
16-2156905-A-T c.7110T>A p.Cys2370* Nonsense 17/46 - 1
16-2156907-A-T c.7108T>A p.Cys2370Ser Missense 17/46 - 2
16-2156912-A-G c.7103T>C p.Leu2368Ser Missense 17/46 - 1
16-2156916-A-G c.7099T>C p.Ser2367Pro Missense 17/46 - 1
16-2157900-CT-C c.7049del p.Glu2350Glyfs*8 Frameshift 16/46 - 1
16-2157911-GG-G c.7039del p.Arg2347Alafs*11 Frameshift 16/46 - 1
16-2157936-GAAGGTG-G c.7010_7015del p.Thr2337_Phe2338del InFrameDeletion 16/46 - 1
16-2157941-G-C c.7008C>G p.Tyr2336* Nonsense 16/46 - 1
16-2157941-G-T c.7008C>A p.Tyr2336* Nonsense 16/46 - 1
16-2157943-A-C c.7006T>G p.Tyr2336Asp Missense 16/46 - 1
16-2157963-C-T c.6986G>A p.Arg2329Gln Missense 16/46 - 1
16-2157963-C-G c.6986G>C p.Arg2329Pro Missense 16/46 - 1
16-2157970-G-A c.6979C>T p.Arg2327Trp Missense 16/46 - 2
16-2157980-G-A c.6969C>T p.Val2323Val Synonymous 16/46 - 1
16-2157984-G-A c.6965C>T p.Thr2322Met Missense 16/46 - 1
16-2157988-T-TC c.6960_6961insG p.Ser2321Glufs*99 Frameshift 16/46 - 1
16-2158006-A-AA c.6945dup p.Gly2316Trpfs*104 Frameshift 16/46 - 1
16-2158014-G-A c.6935C>T p.Ala2312Val Missense 16/46 - 1
16-2158022-G-A c.6927C>T p.Gly2309Gly Synonymous 16/46 - 2
16-2158042-C-T c.6916-9G>A - IntronicSNV - 15/45 2
16-2158176-T-A c.6915+77A>T - IntronicSNV - 15/45 1
16-2158251-A-C c.6915+2T>G - IntronicSNV - 15/45 1
16-2158275-CC-C c.6895del p.Ala2299Profs*15 Frameshift 15/46 - 1
16-2158277-G-C c.6891C>G p.His2297Gln Missense 15/46 - 1
16-2158290-G-A c.6878C>T p.Pro2293Leu Missense 15/46 - 2
16-2158341-A-G c.6827T>C p.Leu2276Pro Missense 15/46 - 2
16-2158358-TGT-T c.6813_6814del p.Arg2272Glyfs*147 Frameshift 15/46 - 1
16-2158365-CC-C c.6804del p.Trp2268Cysfs*46 Frameshift 15/46 - 1
16-2158373-G-C c.6795C>G p.Tyr2265* Nonsense 15/46 - 1
16-2158373-G-T c.6795C>A p.Tyr2265* Nonsense 15/46 - 1
16-2158387-TC-T c.6781del p.Glu2261Argfs*53 Frameshift 15/46 - 1
16-2158388-CAAT-C c.6778_6780del p.Ile2260del InFrameDeletion 15/46 - 1
16-2158405-G-A c.6763C>T p.Arg2255Cys Missense 15/46 - 2
16-2158419-G-A c.6749C>T p.Thr2250Met Missense 15/46 - 7
16-2158432-G-A c.6736C>T p.Gln2246* Nonsense 15/46 - 1
16-2158439-TCT-T c.6730_6731del p.Ser2244Hisfs*17 Frameshift 15/46 - 1
16-2158439-TCTGT-T c.6727_6730del p.Gln2243Alafs*6 Frameshift 15/46 - 1
16-2158441-G-A c.6727C>T p.Gln2243* Nonsense 15/46 - 6
16-2158455-T-G c.6713A>C p.Asp2238Ala Missense 15/46 - 1
16-2158462-A-G c.6706T>C p.Phe2236Leu Missense 15/46 - 1
16-2158464-G-A c.6704C>T p.Ser2235Leu Missense 15/46 - 2
16-2158481-G-T c.6687C>A p.Cys2229* Nonsense 15/46 - 1
16-2158485-T-C c.6683A>G p.Tyr2228Cys Missense 15/46 - 1
16-2158496-CAGG-C c.6670_6672del p.Pro2224del InFrameDeletion 15/46 - 1
16-2158500-CAGC-C c.6668_6670del p.Leu2223del InFrameDeletion 15/46 - 1
16-2158510-G-A c.6658C>T p.Arg2220Trp Missense 15/46 - 6
16-2158512-G-A c.6656C>T p.Pro2219Leu Missense 15/46 - 1
16-2158524-C-T c.6644G>A p.Arg2215Gln Missense 15/46 - 1
16-2158533-GC-G c.6635del p.Ser2212Thrfs*30 Frameshift 15/46 - 1
16-2158533-C-T c.6635G>A p.Ser2212Asn Missense 15/46 - 1
16-2158570-G-T c.6598C>A p.Arg2200Ser Missense 15/46 - 1
16-2158570-G-A c.6598C>T p.Arg2200Cys Missense 15/46 - 5
16-2158582-G-A c.6586C>T p.Gln2196* Nonsense 15/46 - 3
16-2158585-CAGCTGGC-C c.6583_6589del p.Cys2195Glyfs*15 Frameshift 15/46 - 2
16-2158588-CTGGCGGT-C c.6574_6580del p.Thr2192Alafs*18 Frameshift 15/46 - 1
16-2158600-TACACCTCCCAG-T c.6558_6568del p.Trp2187Serfs*71 Frameshift 15/46 - 1
16-2158619-CAGTC-C c.6548_6551del p.Thr2183Serfs*28 Frameshift 15/46 - 1
16-2158620-G-A c.6548C>T p.Thr2183Ile Missense 15/46 - 1
16-2158623-T-C c.6545A>G p.Gln2182Arg Missense 15/46 - 1
16-2158624-G-A c.6544C>T p.Gln2182* Nonsense 15/46 - 1
16-2158634-G-T c.6534C>A p.Cys2178* Nonsense 15/46 - 1
16-2158635-C-T c.6533G>A p.Cys2178Tyr Missense 15/46 - 1
16-2158656-G-T c.6512C>A p.Ala2171Asp Missense 15/46 - 1
16-2158669-T-C c.6499A>G p.Asn2167Asp Missense 15/46 - 1
16-2158672-G-A c.6496C>T p.Arg2166Cys Missense 15/46 - 1
16-2158677-G-T c.6491C>A p.Ser2164* Nonsense 15/46 - 2
16-2158681-G-A c.6487C>T p.Arg2163* Nonsense 15/46 - 2
16-2158683-C-T c.6485G>A p.Arg2162Gln Missense 15/46 - 1
16-2158696-G-A c.6472C>T p.Gln2158* Nonsense 15/46 - 4
16-2158704-CAGGAC-C c.6461_6465del p.Val2154Alafs*19 Frameshift 15/46 - 1
16-2158744-G-A c.6424C>T p.Gln2142* Nonsense 15/46 - 2
16-2158773-A-C c.6395T>G p.Phe2132Cys Missense 15/46 - 1
16-2158784-G-T c.6384C>A p.Asn2128Lys Missense 15/46 - 2
16-2158804-AC-A c.6364del p.Val2122Cysfs*3 Frameshift 15/46 - 1
16-2158837-C-T c.6331G>A p.Glu2111Lys Missense 15/46 - 1
16-2158861-G-A c.6307C>T p.Gln2103* Nonsense 15/46 - 1
16-2158871-C-A c.6297G>T p.Gly2099Gly Synonymous 15/46 - 1
16-2158883-G-T c.6285C>A p.Asp2095Glu Missense 15/46 - 1
16-2158886-C-A c.6282G>T p.Trp2094Cys Missense 15/46 - 1
16-2158893-T-C c.6275A>G p.Tyr2092Cys Missense 15/46 - 1
16-2158905-C-CC c.6264dup p.Arg2089Alafs*19 Frameshift 15/46 - 1
16-2158924-C-T c.6244G>A p.Ala2082Thr Missense 15/46 - 1
16-2158944-C-CAA c.6223_6224insTT p.Arg2075Leufs*42 Frameshift 15/46 - 1
16-2158948-TT-T c.6221del p.Asn2074Thrfs*42 Frameshift 15/46 - 1
16-2158969-G-A c.6199C>T p.Gln2067* Nonsense 15/46 - 1
16-2158984-G-A c.6184C>T p.Gln2062* Nonsense 15/46 - 1
16-2158995-T-C c.6173A>G p.Gln2058Arg Missense 15/46 - 2
16-2159016-C-G c.6152G>C p.Arg2051Pro Missense 15/46 - 2
16-2159017-G-A c.6151C>T p.Arg2051Cys Missense 15/46 - 1
16-2159038-T-C c.6130A>G p.Asn2044Asp Missense 15/46 - 1
16-2159053-G-A c.6115C>T p.Gln2039* Nonsense 15/46 - 1
16-2159067-C-T c.6101G>A p.Gly2034Glu Missense 15/46 - 1
16-2159068-C-T c.6100G>A p.Gly2034Arg Missense 15/46 - 1
16-2159068-C-G c.6100G>C p.Gly2034Arg Missense 15/46 - 1
16-2159080-GG-G c.6090del p.Val2031Trpfs*85 Frameshift 15/46 - 1
16-2159106-A-G c.6062T>C p.Leu2021Pro Missense 15/46 - 2
16-2159118-G-T c.6050C>A p.Ser2017* Nonsense 15/46 - 1
16-2159127-CTGGACCTTCTGCAGCGAGAAGTACCAGGCGTAGGCGACC-C c.6005_6043del p.Val2002_Gln2014del InFrameDeletion 15/46 - 1
16-2159128-G-A c.6040C>T p.Gln2014* Nonsense 15/46 - 1
16-2159158-TA-T c.6010del p.Tyr2004Thrfs*112 Frameshift 15/46 - 1
16-2159167-G-A c.6001C>T p.Arg2001Trp Missense 15/46 - 1
16-2159169-G-C c.5999C>G p.Ser2000Cys Missense 15/46 - 1
16-2159173-C-T c.5995G>A p.Gly1999Ser Missense 15/46 - 2
16-2159190-GT-CT c.5978delinsG p.Thr1993Arg Missense 15/46 - 1
16-2159192-G-T c.5976C>A p.Phe1992Leu Missense 15/46 - 2
16-2159192-G-C c.5976C>G p.Phe1992Leu Missense 15/46 - 2
16-2159194-A-G c.5974T>C p.Phe1992Leu Missense 15/46 - 2
16-2159194-AAGTTC-A c.5970_5974del p.Arg1990Serfs*58 Frameshift 15/46 - 1
16-2159211-G-A c.5957C>T p.Thr1986Met Missense 15/46 - 1
16-2159245-G-A c.5923C>T p.Gln1975* Nonsense 15/46 - 1
16-2159256-CAC-C c.5912_5913del p.Val1971Glufs*18 Frameshift 15/46 - 1
16-2159290-G-A c.5878C>T p.Gln1960* Nonsense 15/46 - 1
16-2159295-C-T c.5873G>A p.Trp1958* Nonsense 15/46 - 1
16-2159306-GG-G c.5863del p.His1955Thrfs*2 Frameshift 15/46 - 1
16-2159313-C-T c.5855G>A p.Gly1952Asp Missense 15/46 - 2
16-2159313-GCCCC-G c.5852_5855del p.Arg1951Profs*5 Frameshift 15/46 - 1
16-2159320-C-T c.5848G>A p.Val1950Met Missense 15/46 - 2
16-2159321-G-A c.5847C>T p.Ser1949Ser Synonymous 15/46 - 1
16-2159338-C-T c.5830G>A p.Gly1944Arg Missense 15/46 - 3
16-2159343-C-T c.5825G>A p.Arg1942His Missense 15/46 - 1
16-2159344-G-A c.5824C>T p.Arg1942Cys Missense 15/46 - 1
16-2159354-G-GG c.5814dup p.Ser1939Glnfs*51 Frameshift 15/46 - 1
16-2159383-C-A c.5785G>T p.Glu1929* Nonsense 15/46 - 2
16-2159391-G-A c.5777C>T p.Ala1926Val Missense 15/46 - 1
16-2159404-G-A c.5764C>T p.Gln1922* Nonsense 15/46 - 2
16-2159405-C-T c.5763G>A p.Leu1921Leu Synonymous 15/46 - 3
16-2159427-C-G c.5741G>C p.Gly1914Ala Missense 15/46 - 1
16-2159446-G-A c.5722C>T p.Gln1908* Nonsense 15/46 - 2
16-2159489-C-T c.5679G>A p.Trp1893* Nonsense 15/46 - 1
16-2159490-C-T c.5678G>A p.Trp1893* Nonsense 15/46 - 1
16-2159518-C-A c.5650G>T p.Glu1884* Nonsense 15/46 - 1
16-2159531-G-C c.5637C>G p.Tyr1879* Nonsense 15/46 - 1
16-2159535-G-A c.5633C>T p.Thr1878Met Missense 15/46 - 1
16-2159557-C-T c.5611G>A p.Ala1871Thr Missense 15/46 - 3
16-2159558-G-C c.5610C>G p.Asn1870Lys Missense 15/46 - 1
16-2159568-T-C c.5600A>G p.Asn1867Ser Missense 15/46 - 1
16-2159574-CC-C c.5595del p.Leu1866Serfs*83 Frameshift 15/46 - 1
16-2159597-CC-C c.5572del p.Asp1858Metfs*91 Frameshift 15/46 - 1
16-2159651-C-A c.5517G>T p.Trp1839Cys Missense 15/46 - 2
16-2159674-C-T c.5494G>A p.Gly1832Ser Missense 15/46 - 1
16-2159686-G-A c.5482C>T p.Gln1828* Nonsense 15/46 - 1
16-2159691-C-T c.5477G>A p.Trp1826* Nonsense 15/46 - 1
16-2159773-G-A c.5395C>T p.Gln1799* Nonsense 15/46 - 1
16-2159794-C-T c.5374G>A p.Ala1792Thr Missense 15/46 - 1
16-2159850-G-A c.5318C>T p.Thr1773Ile Missense 15/46 - 1
16-2159863-G-A c.5305C>T p.His1769Tyr Missense 15/46 - 3
16-2159991-GG-G c.5180del p.Pro1727Argfs*32 Frameshift 15/46 - 1
16-2159996-G-A c.5172C>T p.Ala1724Ala Synonymous 15/46 - 4
16-2160048-C-T c.5120G>A p.Trp1707* Nonsense 15/46 - 1
16-2160072-G-T c.5096C>A p.Ala1699Asp Missense 15/46 - 1
16-2160089-G-T c.5079C>A p.Tyr1693* Nonsense 15/46 - 1
16-2160117-G-A c.5051C>T p.Ser1684Leu Missense 15/46 - 1
16-2160153-CCT-C c.5014_5015del p.Arg1672Glyfs*98 Frameshift 15/46 - 16
16-2160154-T-TA c.5013_5014insT p.Arg1672* Nonsense 15/46 - 1
16-2160199-CT-C c.4969del p.Arg1657Glyfs*65 Frameshift 15/46 - 1
16-2160207-G-T c.4961C>A p.Ala1654Asp Missense 15/46 - 1
16-2160211-G-A c.4957C>T p.Gln1653* Nonsense 15/46 - 1
16-2160254-C-CC c.4916dup p.Gly1640Argfs*18 Frameshift 15/46 - 1
16-2160270-T-TA c.4897_4898insT p.Glu1633Valfs*25 Frameshift 15/46 - 1
16-2160280-G-A c.4888C>T p.Gln1630* Nonsense 15/46 - 2
16-2160286-ACATA-A c.4880_4883del p.Tyr1627Serfs*5 Frameshift 15/46 - 1
16-2160287-A-T c.4881T>A p.Tyr1627* Nonsense 15/46 - 1
16-2160307-G-A c.4861C>T p.Gln1621* Nonsense 15/46 - 1
16-2160312-G-A c.4856C>T p.Ser1619Phe Missense 15/46 - 2
16-2160322-C-A c.4846G>T p.Glu1616* Nonsense 15/46 - 1
16-2160337-C-T c.4831G>A p.Val1611Ile Missense 15/46 - 2
16-2160341-TGAT-T c.4828_4830del p.Ile1610del InFrameDeletion 15/46 - 1
16-2160358-C-T c.4810G>A p.Val1604Met Missense 15/46 - 2
16-2160365-GG-G c.4804del p.Arg1602Alafs*31 Frameshift 15/46 - 1
16-2160370-T-TT c.4798dup p.Thr1600Asnfs*15 Frameshift 15/46 - 1
16-2160371-G-C c.4797C>G p.Tyr1599* Nonsense 15/46 - 2
16-2160371-G-T c.4797C>A p.Tyr1599* Nonsense 15/46 - 2
16-2160409-G-A c.4759C>T p.Arg1587Cys Missense 15/46 - 1
16-2160422-C-T c.4746G>A p.Trp1582* Nonsense 15/46 - 1
16-2160423-C-G c.4745G>C p.Trp1582Ser Missense 15/46 - 1
16-2160459-G-A c.4709C>T p.Thr1570Met Missense 15/46 - 3
16-2160470-C-CT c.4697_4698insA p.Ser1567Glufs*11 Frameshift 15/46 - 1
16-2160494-C-T c.4674G>A p.Thr1558Thr Synonymous 15/46 - 4
16-2160503-T-G c.4665A>C p.Ala1555Ala Synonymous 15/46 - 4
16-2160504-G-C c.4664C>G p.Ala1555Gly Missense 15/46 - 1
16-2160540-CGTCAC-C c.4625_4629del p.Val1542Glyfs*34 Frameshift 15/46 - 1
16-2160555-G-C c.4613C>G p.Ala1538Gly Missense 15/46 - 1
16-2160559-C-A c.4609G>T p.Glu1537* Nonsense 15/46 - 5
16-2160587-CCACCCTAACGGTGAAGTCACCTGTGCTGTTG-C c.4551_4581del p.Tyr1517* Frameshift 15/46 - 1
16-2160591-C-T c.4577G>A p.Arg1526Lys Missense 15/46 - 1
16-2160617-G-T c.4551C>A p.Tyr1517* Nonsense 15/46 - 2
16-2160622-C-T c.4546G>A p.Ala1516Thr Missense 15/46 - 4
16-2160661-C-T c.4507G>A p.Gly1503Arg Missense 15/46 - 1
16-2160673-G-A c.4495C>T p.Leu1499Leu Synonymous 15/46 - 1
16-2160674-G-T c.4494C>A p.Tyr1498* Nonsense 15/46 - 1
16-2160674-G-C c.4494C>G p.Tyr1498* Nonsense 15/46 - 1
16-2160693-C-G c.4475G>C p.Arg1492Pro Missense 15/46 - 1
16-2160713-G-C c.4455C>G p.Tyr1485* Nonsense 15/46 - 1
16-2160713-G-T c.4455C>A p.Tyr1485* Nonsense 15/46 - 1
16-2160716-C-T c.4452G>A p.Pro1484Pro Synonymous 15/46 - 1
16-2160721-G-A c.4447C>T p.Gln1483* Nonsense 15/46 - 1
16-2160724-G-A c.4444C>T p.Gln1482* Nonsense 15/46 - 1
16-2160729-T-C c.4439A>G p.Glu1480Gly Missense 15/46 - 1
16-2160733-AG-A c.4435del p.Leu1479Trpfs*55 Frameshift 15/46 - 1
16-2160745-CCA-C c.4422_4423del p.Asn1474Lysfs*48 Frameshift 15/46 - 1
16-2160754-TTGAT-T c.4412_4415del p.Ile1471Argfs*62 Frameshift 15/46 - 1
16-2160789-CAC-C c.4379_4380del p.Val1460Glyfs*62 Frameshift 15/46 - 1
16-2160796-GCTGAG-G c.4369_4373del p.Ser1457Profs*64 Frameshift 15/46 - 2
16-2160799-GAG-G c.4369_4370del p.Ala1458Profs*64 Frameshift 15/46 - 1
16-2160828-G-A c.4340C>T p.Ala1447Val Missense 15/46 - 1
16-2160849-GGAG-G c.4319_4321del p.Ser1440del InFrameDeletion 15/46 - 1
16-2160862-G-A c.4306C>T p.Arg1436* Nonsense 15/46 - 4
16-2160883-G-A c.4285C>T p.Pro1429Ser Missense 15/46 - 1
16-2160895-G-A c.4273C>T p.Arg1425Cys Missense 15/46 - 1
16-2160926-C-G c.4242G>C p.Trp1414Cys Missense 15/46 - 1
16-2160926-C-A c.4242G>T p.Trp1414Cys Missense 15/46 - 1
16-2160926-C-T c.4242G>A p.Trp1414* Nonsense 15/46 - 1
16-2160927-C-T c.4241G>A p.Trp1414* Nonsense 15/46 - 1
16-2160952-G-GG c.4220dup p.Phe1408Valfs*23 Frameshift 15/46 - 1
16-2160969-CA-C c.4199del p.Leu1400Argfs*32 Frameshift 15/46 - 2
16-2160973-A-G c.4195T>C p.Trp1399Arg Missense 15/46 - 5
16-2160985-C-G c.4183G>C p.Gly1395Arg Missense 15/46 - 1
16-2160985-C-T c.4183G>A p.Gly1395Arg Missense 15/46 - 1
16-2160991-G-A c.4177C>T p.Gln1393* Nonsense 15/46 - 1
16-2161044-C-T c.4124G>A p.Cys1375Tyr Missense 15/46 - 1
16-2161084-A-G c.4084T>C p.Ser1362Pro Missense 15/46 - 1
16-2161097-C-A c.4071G>T p.Leu1357Leu Synonymous 15/46 - 1
16-2161103-GG-G c.4069del p.Leu1357Trpfs*9 Frameshift 15/46 - 1
16-2161111-C-T c.4057G>A p.Gly1353Ser Missense 15/46 - 1
16-2161113-C-T c.4055G>A p.Ser1352Asn Missense 15/46 - 1
16-2161118-GCG-G c.4051_4052del p.Arg1351Glufs*79 Frameshift 15/46 - 1
16-2161137-G-A c.4031C>T p.Thr1344Met Missense 15/46 - 1
16-2161150-G-A c.4018C>T p.Arg1340Trp Missense 15/46 - 1
16-2161174-C-T c.3994G>A p.Asp1332Asn Missense 15/46 - 3
16-2161186-A-G c.3982T>C p.Trp1328Arg Missense 15/46 - 1
16-2161213-C-T c.3955G>A p.Gly1319Arg Missense 15/46 - 2
16-2161237-C-T c.3931G>A p.Ala1311Thr Missense 15/46 - 1
16-2161238-CGT-C c.3929_3930del p.Asp1310Glyfs*120 Frameshift 15/46 - 1
16-2161248-CGTGGGGATGC-C c.3914_3923del p.Ile1305Serfs*38 Frameshift 15/46 - 1
16-2161285-C-A c.3883G>T p.Glu1295* Nonsense 15/46 - 1
16-2161292-G-T c.3876C>A p.Phe1292Leu Missense 15/46 - 1
16-2161300-G-C c.3868C>G p.Leu1290Val Missense 15/46 - 2
16-2161311-C-T c.3857G>A p.Ser1286Asn Missense 15/46 - 1
16-2161314-CC-C c.3855del p.Ser1286Alafs*60 Frameshift 15/46 - 1
16-2161322-GGTGGCCGGCGGGGCTGG-G c.3831_3847del p.Ser1278Glyfs*17 Frameshift 15/46 - 1
16-2161334-G-T c.3834C>A p.Ser1278Arg Missense 15/46 - 1
16-2161340-C-T c.3828G>A p.Ala1276Ala Synonymous 15/46 - 1
16-2161346-CC-C c.3824del p.Gly1275Valfs*71 Frameshift 15/46 - 1
16-2161348-C-T c.3820G>A p.Val1274Met Missense 15/46 - 3
16-2161376-G-T c.3792C>A p.Tyr1264* Nonsense 15/46 - 1
16-2161384-G-GG c.3784dup p.His1262Profs*39 Frameshift 15/46 - 1
16-2161387-C-CA c.3780_3781insT p.Glu1261* Nonsense 15/46 - 1
16-2161406-CGA-AAC c.3760_3762delinsGTT p.Ser1254Val Missense 15/46 - 1
16-2161407-G-A c.3761C>T p.Ser1254Leu Missense 15/46 - 1
16-2161427-CC-C c.3745del p.Asp1249Thrfs*24 Frameshift 15/46 - 1
16-2161443-G-A c.3725C>T p.Thr1242Met Missense 15/46 - 1
16-2161525-G-C c.3643C>G p.Leu1215Val Missense 15/46 - 1
16-2161553-CATCCGCCTGGGCCGCCGCAC-C c.3601_3620del p.Ala1201Argfs*3 Frameshift 15/46 - 1
16-2161555-C-G c.3613G>C p.Asp1205His Missense 15/46 - 1
16-2161556-CGC-TGT c.3610_3612delinsACA p.Ala1204Thr Missense 15/46 - 1
16-2161561-G-A c.3607C>T p.Gln1203* Nonsense 15/46 - 1
16-2161566-G-A c.3602C>T p.Ala1201Val Missense 15/46 - 1
16-2161569-G-A c.3599C>T p.Ala1200Val Missense 15/46 - 1
16-2161614-C-T c.3554G>A p.Gly1185Asp Missense 15/46 - 1
16-2161620-G-C c.3548C>G p.Ser1183Trp Missense 15/46 - 2
16-2161626-T-C c.3542A>G p.Tyr1181Cys Missense 15/46 - 1
16-2161654-G-A c.3514C>T p.Gln1172* Nonsense 15/46 - 1
16-2161655-G-C c.3513C>G p.Thr1171Thr Synonymous 15/46 - 1
16-2161662-GACAG-G c.3504_3507del p.Val1169* Frameshift 15/46 - 1
16-2161665-G-C c.3503C>G p.Pro1168Arg Missense 15/46 - 1
16-2161666-G-A c.3502C>T p.Pro1168Ser Missense 15/46 - 2
16-2161672-C-T c.3496G>A p.Gly1166Ser Missense 15/46 - 2
16-2161724-C-A c.3444G>T p.Pro1148Pro Synonymous 15/46 - 1
16-2161724-C-G c.3444G>C p.Pro1148Pro Synonymous 15/46 - 1
16-2161724-C-T c.3444G>A p.Pro1148Pro Synonymous 15/46 - 1
16-2161793-G-A c.3375C>T p.Ser1125Ser Synonymous 15/46 - 3
16-2161796-G-A c.3372C>T p.Ala1124Ala Synonymous 15/46 - 3
16-2161819-G-A c.3349C>T p.Gln1117* Nonsense 15/46 - 1
16-2161852-G-C c.3316C>G p.Leu1106Val Missense 15/46 - 1
16-2161854-A-C c.3314T>G p.Val1105Gly Missense 15/46 - 1
16-2161857-G-GG c.3312dup p.Val1105Argfs*5 Frameshift 15/46 - 1
16-2161874-T-G c.3296-2A>C - IntronicSNV - 14/45 1
16-2161874-T-A c.3296-2A>T - IntronicSNV - 14/45 1
16-2162349-AGCGTAGGTGTGCATGACA-A c.3272_3289del p.Val1091_Ala1096del InFrameDeletion 14/46 - 1
16-2162352-T-C c.3284A>G p.Tyr1095Cys Missense 14/46 - 1
16-2162361-A-G c.3275T>C p.Met1092Thr Missense 14/46 - 3
16-2162400-GT-G c.3236del p.Asp1079Alafs*25 Frameshift 14/46 - 1
16-2162411-GG-G c.3227del p.Pro1076Argfs*28 Frameshift 14/46 - 1
16-2162422-T-TT c.3215dup p.Asn1072Lysfs*29 Frameshift 14/46 - 1
16-2162435-GG-G c.3202del p.Gln1068Serfs*36 Frameshift 14/46 - 1
16-2162442-T-G c.3194A>C p.His1065Pro Missense 14/46 - 1
16-2162443-G-T c.3193C>A p.His1065Asn Missense 14/46 - 1
16-2162452-G-A c.3184C>T p.Gln1062* Nonsense 14/46 - 1
16-2162810-G-T c.3140C>A p.Ser1047* Nonsense 13/46 - 1
16-2162817-C-G c.3133G>C p.Val1045Leu Missense 13/46 - 1
16-2162817-C-T c.3133G>A p.Val1045Met Missense 13/46 - 4
16-2162818-CA-AT c.3131_3132delinsAT p.Leu1044His Missense 13/46 - 1
16-2162839-T-C c.3111A>G p.Leu1037Leu Synonymous 13/46 - 2
16-2162850-T-C c.3100A>G p.Asn1034Asp Missense 13/46 - 1
16-2162882-CT-C c.3068del p.Gln1023Argfs*15 Frameshift 13/46 - 1
16-2162882-T-C c.3068A>G p.Gln1023Arg Missense 13/46 - 1
16-2162887-A-G c.3063T>C p.Gly1021Gly Synonymous 13/46 - 4
16-2162892-G-A c.3058C>T p.Gln1020* Nonsense 13/46 - 2
16-2162938-CGTTG-C c.3009_3012del p.Ser1003Argfs*4 Frameshift 13/46 - 1
16-2162979-G-A c.2986-15C>T - IntronicSNV - 12/45 1
16-2163157-C-T c.2985+5G>A - IntronicSNV - 12/45 1
16-2163158-C-T c.2985+4G>A - IntronicSNV - 12/45 1
16-2163215-G-A c.2932C>T p.Gln978* Nonsense 12/46 - 1
16-2163248-A-G c.2899T>C p.Trp967Arg Missense 12/46 - 2
16-2163248-A-T c.2899T>A p.Trp967Arg Missense 12/46 - 2
16-2163250-C-G c.2897G>C p.Arg966Pro Missense 12/46 - 1
16-2163264-CC-C c.2884del p.Asp962Thrfs*14 Frameshift 12/46 - 1
16-2163268-C-T c.2879G>A p.Gly960Asp Missense 12/46 - 1
16-2163269-C-T c.2878G>A p.Gly960Ser Missense 12/46 - 1
16-2163285-GG-G c.2865del p.Val956Trpfs*20 Frameshift 12/46 - 1
16-2163296-G-C c.2854-3C>G - IntronicSNV - 11/45 1
16-2163298-G-A c.2854-5C>T - IntronicSNV - 11/45 1
16-2163562-A-G c.2854-269T>C - IntronicSNV - 11/45 1
16-2163579-G-C c.2854-286C>G - IntronicSNV - 11/45 2
16-2164172-A-G c.2852T>C p.Val951Ala Missense 11/46 - 1
16-2164185-G-A c.2839C>T p.Gln947* Nonsense 11/46 - 1
16-2164192-CAC-C c.2833_2834del p.Val945Thrfs*155 Frameshift 11/46 - 1
16-2164194-G-A c.2830C>T p.Arg944Cys Missense 11/46 - 1
16-2164244-G-A c.2780C>T p.Thr927Met Missense 11/46 - 1
16-2164276-GCT-GAG c.2746_2747delinsCT p.Ser916Leu Missense 11/46 - 2
16-2164277-CT-GC c.2746_2747delinsGC p.Ser916Ala Missense 11/46 - 8
16-2164277-CT-CC c.2746delinsG p.Ser916Gly Missense 11/46 - 1
16-2164294-G-A c.2730C>T p.Asp910Asp Synonymous 11/46 - 4
16-2164313-CTC-C c.2711_2712del p.Glu904Glyfs*196 Frameshift 11/46 - 1
16-2164324-C-T c.2700G>A p.Pro900Pro Synonymous 11/46 - 3
16-2164330-T-G c.2694A>C p.Ala898Ala Synonymous 11/46 - 1
16-2164336-CCACTGAGAAC-C c.2681_2690del p.Phe894* Frameshift 11/46 - 1
16-2164365-CA-C c.2659del p.Trp887Glyfs*11 Frameshift 11/46 - 1
16-2164380-C-T c.2644G>A p.Val882Met Missense 11/46 - 1
16-2164405-G-GG c.2619dup p.Cys874Leufs*31 Frameshift 11/46 - 1
16-2164406-A-G c.2618T>C p.Val873Ala Missense 11/46 - 1
16-2164421-GG-G c.2605del p.Arg869Alafs*29 Frameshift 11/46 - 1
16-2164442-C-T c.2582G>A p.Trp861* Nonsense 11/46 - 2
16-2164473-GAG-G c.2552_2553del p.Ser851Trpfs*20 Frameshift 11/46 - 1
16-2164487-AC-CC c.2537delinsG p.Val846Gly Missense 11/46 - 1
16-2164490-A-G c.2534T>C p.Leu845Ser Missense 11/46 - 4
16-2164497-A-G c.2527T>C p.Ser843Pro Missense 11/46 - 1
16-2164535-G-GG c.2494dup p.Arg832Profs*40 Frameshift 11/46 - 1
16-2164546-TG-T c.2478del p.Ile827Serfs*71 Frameshift 11/46 - 1
16-2164551-CGC-C c.2473_2474del p.Arg825Glyfs*46 Frameshift 11/46 - 1
16-2164637-T-C c.2387A>G p.Tyr796Cys Missense 11/46 - 1
16-2164695-G-A c.2329C>T p.Gln777* Nonsense 11/46 - 1
16-2164755-G-A c.2269C>T p.Gln757* Nonsense 11/46 - 1
16-2164755-G-T c.2269C>A p.Gln757Lys Missense 11/46 - 1
16-2164778-G-C c.2246C>G p.Ser749* Nonsense 11/46 - 1
16-2164778-G-T c.2246C>A p.Ser749* Nonsense 11/46 - 1
16-2164789-G-A c.2235C>T p.Ala745Ala Synonymous 11/46 - 1
16-2164789-G-T c.2235C>A p.Ala745Ala Synonymous 11/46 - 1
16-2164789-G-C c.2235C>G p.Ala745Ala Synonymous 11/46 - 1
16-2164790-G-C c.2234C>G p.Ala745Gly Missense 11/46 - 1
16-2164792-GGA-GAG c.2230_2231delinsCT p.Ser744Leu Missense 11/46 - 9
16-2164794-A-C c.2230T>G p.Ser744Ala Missense 11/46 - 6
16-2164808-C-G c.2216G>C p.Arg739Pro Missense 11/46 - 3
16-2164808-C-T c.2216G>A p.Arg739Gln Missense 11/46 - 3
16-2164810-G-C c.2214C>G p.Pro738Pro Synonymous 11/46 - 1
16-2164844-A-G c.2180T>C p.Leu727Pro Missense 11/46 - 9
16-2164848-G-A c.2176C>T p.Leu726Phe Missense 11/46 - 1
16-2164865-T-G c.2159A>C p.Asp720Ala Missense 11/46 - 1
16-2164867-CG-C c.2157del p.His719Glnfs*66 Frameshift 11/46 - 1
16-2164889-C-G c.2135G>C p.Gly712Ala Missense 11/46 - 1
16-2164911-G-A c.2113C>T p.Gln705* Nonsense 11/46 - 1
16-2165379-C-A c.2097G>T p.Ser699Ser Synonymous 10/46 - 1
16-2165382-G-C c.2094C>G p.Tyr698* Nonsense 10/46 - 1
16-2165386-TG-GC c.2089_2090delinsGC p.Gln697Ala Missense 10/46 - 1
16-2165390-C-T c.2086G>A p.Ala696Thr Missense 10/46 - 1
16-2165395-G-A c.2081C>T p.Pro694Leu Missense 10/46 - 1
16-2165396-G-GG c.2085dup p.Ala696Argfs*18 Frameshift 10/46 - 2
16-2165402-C-T c.2074G>A p.Ala692Thr Missense 10/46 - 1
16-2165407-A-T c.2069T>A p.Val690Asp Missense 10/46 - 1
16-2165426-T-A c.2050A>T p.Arg684* Nonsense 10/46 - 1
16-2165437-T-A c.2039A>T p.Tyr680Phe Missense 10/46 - 2
16-2165470-C-A c.2006G>T p.Cys669Phe Missense 10/46 - 1
16-2165504-C-T c.1972G>A p.Ala658Thr Missense 10/46 - 1
16-2165539-C-T c.1937G>A p.Trp646* Nonsense 10/46 - 1
16-2165538-C-T c.1938G>A p.Trp646* Nonsense 10/46 - 1
16-2165554-A-G c.1922T>C p.Met641Thr Missense 10/46 - 1
16-2165630-T-C c.1850-4A>G - IntronicSNV - 9/45 3
16-2165969-CACCACCCACCACC-C c.1849+14_1849+26del - IntronicDeletion - 9/45 1
16-2166011-G-A c.1831C>T p.Arg611Trp Missense 9/46 - 1
16-2166012-G-T c.1830C>A p.Tyr610* Nonsense 9/46 - 1
16-2166012-G-C c.1830C>G p.Tyr610* Nonsense 9/46 - 1
16-2166053-G-A c.1789C>T p.Gln597* Nonsense 9/46 - 1
16-2166055-GG-G c.1789del p.Gln597Argfs*188 Frameshift 9/46 - 1
16-2166061-A-T c.1781T>A p.Phe594Tyr Missense 9/46 - 2
16-2166064-TT-T c.1779del p.Glu593Aspfs*192 Frameshift 9/46 - 1
16-2166120-C-T c.1723-1G>A - IntronicSNV - 8/45 1
16-2166121-T-G c.1723-2A>C - IntronicSNV - 8/45 1
16-2166529-C-G c.1722+1G>C - IntronicSNV - 8/45 1
16-2166531-T-A c.1721A>T p.Glu574Val Missense 8/46 - 1
16-2166531-T-C c.1721A>G p.Glu574Gly Missense 8/46 - 1
16-2166538-G-A c.1714C>T p.Pro572Ser Missense 8/46 - 1
16-2166570-G-A c.1682C>T p.Ala561Val Missense 8/46 - 1
16-2166579-G-A c.1673C>T p.Thr558Met Missense 8/46 - 1
16-2166672-G-A c.1607-27C>T - IntronicSNV - 7/45 1
16-2166833-C-G c.1606+1G>C - IntronicSNV - 7/45 1
16-2166833-C-T c.1606+1G>A - IntronicSNV - 7/45 1
16-2166834-C-T c.1606G>A p.Gly536Ser Missense 7/46 - 1
16-2166843-G-A c.1597C>T p.Gln533* Nonsense 7/46 - 1
16-2166846-G-C c.1594C>G p.Leu532Val Missense 7/46 - 1
16-2166849-C-T c.1591G>A p.Glu531Lys Missense 7/46 - 1
16-2166851-C-T c.1589G>A p.Cys530Tyr Missense 7/46 - 1
16-2166857-T-C c.1583A>G p.Tyr528Cys Missense 7/46 - 6
16-2166872-G-C c.1568C>G p.Ser523* Nonsense 7/46 - 1
16-2166876-A-G c.1564T>C p.Cys522Arg Missense 7/46 - 1
16-2166882-C-T c.1558G>A p.Asp520Asn Missense 7/46 - 1
16-2166911-C-G c.1529G>C p.Arg510Pro Missense 7/46 - 1
16-2166916-G-T c.1524C>A p.Cys508* Nonsense 7/46 - 1
16-2166918-A-G c.1522T>C p.Cys508Arg Missense 7/46 - 2
16-2166963-G-A c.1477C>T p.Gln493* Nonsense 7/46 - 1
16-2166965-C-T c.1475G>A p.Cys492Tyr Missense 7/46 - 1
16-2167028-G-A c.1412C>T p.Ser471Leu Missense 7/46 - 1
16-2167490-C-A c.1385G>T p.Arg462Met Missense 6/46 - 1
16-2167491-T-TA c.1383_1384insT p.Arg462* SpliceDonorInsertion 6/46 - 1
16-2167491-T-TC c.1383_1384insG p.Arg462Glufs*57 SpliceDonorInsertion 6/46 - 1
16-2167491-T-TT c.1384dup p.Arg462Lysfs*57 SpliceDonorInsertion 6/46 - 1
16-2167493-G-GG c.1383dup p.Arg462Glnfs*57 SpliceDonorInsertion 6/46 - 1
16-2167495-G-C c.1380C>G p.Val460Val Synonymous 6/46 - 1
16-2167495-G-A c.1380C>T p.Val460Val Synonymous 6/46 - 1
16-2167495-G-T c.1380C>A p.Val460Val Synonymous 6/46 - 1
16-2167496-A-G c.1379T>C p.Val460Ala Missense 6/46 - 1
16-2167499-C-G c.1376G>C p.Arg459Pro Missense 6/46 - 1
16-2167514-C-G c.1361G>C p.Arg454Pro Missense 6/46 - 1
16-2167515-G-A c.1360C>T p.Arg454Cys Missense 6/46 - 1
16-2167524-C-T c.1351G>A p.Ala451Thr Missense 6/46 - 1
16-2167544-A-G c.1331T>C p.Leu444Pro Missense 6/46 - 1
16-2167552-C-T c.1323G>A p.Gly441Gly Synonymous 6/46 - 1
16-2167578-G-A c.1297C>T p.Gln433* Nonsense 6/46 - 1
16-2167580-G-A c.1295C>T p.Ala432Val Missense 6/46 - 1
16-2167583-CTGCAGCCAG-C c.1284_1292del p.Trp429_Gln431del InFrameDeletion 6/46 - 1
16-2167584-G-A c.1291C>T p.Gln431* Nonsense 6/46 - 1
16-2167589-C-G c.1286G>C p.Trp429Ser Missense 6/46 - 1
16-2167589-C-A c.1286G>T p.Trp429Leu Missense 6/46 - 1
16-2167595-CGCC-C c.1281_1283del p.Ala428del InFrameDeletion 6/46 - 1
16-2167614-G-A c.1261C>T p.Arg421Cys Missense 6/46 - 1
16-2167616-T-G c.1259A>C p.Tyr420Ser Missense 6/46 - 1
16-2167619-C-A c.1256G>T p.Cys419Phe Missense 6/46 - 1
16-2167632-CCAGG-C c.1240_1243del p.Pro414Alafs*50 Frameshift 6/46 - 1
16-2167664-G-C c.1211C>G p.Pro404Arg Missense 6/46 - 2
16-2167664-GG-TG c.1211delinsA p.Pro404Gln Missense 6/46 - 1
16-2167666-G-A c.1209C>T p.His403His Synonymous 6/46 - 1
16-2167682-C-T c.1202-9G>A - IntronicSNV - 5/45 2
16-2167792-C-CA c.1200_1201insT p.Ala401Cysfs*118 SpliceDonorInsertion 5/46 - 1
16-2167792-C-CG c.1200_1201insC p.Ala401Argfs*118 SpliceDonorInsertion 5/46 - 1
16-2167793-T-TT c.1200dup p.Ala401Serfs*118 SpliceDonorInsertion 5/46 - 1
16-2167795-G-A c.1198C>T p.Arg400* Nonsense 5/46 - 1
16-2167852-C-T c.1141G>A p.Gly381Ser Missense 5/46 - 1
16-2167855-G-A c.1138C>T p.Arg380Cys Missense 5/46 - 1
16-2167866-CT-GC c.1126_1127delinsGC p.Ser376Ala Missense 5/46 - 1
16-2167874-G-C c.1119C>G p.Leu373Leu Synonymous 5/46 - 2
16-2167874-G-A c.1119C>T p.Leu373Leu Synonymous 5/46 - 2
16-2167878-C-T c.1115G>A p.Ser372Asn Missense 5/46 - 1
16-2167970-G-A c.1023C>T p.Ala341Ala Synonymous 5/46 - 2
16-2167989-GG-G c.1005del p.Val336Cysfs*129 Frameshift 5/46 - 1
16-2168019-T-C c.974A>G p.Tyr325Cys Missense 5/46 - 1
16-2168022-C-A c.971G>T p.Arg324Leu Missense 5/46 - 1
16-2168056-C-A c.937G>T p.Glu313* Nonsense 5/46 - 1
16-2168057-CGGCGGAGCCGTCTC-C c.926_939del p.Asp309Glyfs*57 Frameshift 5/46 - 1
16-2168081-GCG-TGA c.910_912delinsTCA p.Arg304Ser Nonsense 5/46 - 1
16-2168111-G-C c.882C>G p.Ile294Met Missense 5/46 - 1
16-2168131-G-A c.862C>T p.Gln288* Nonsense 5/46 - 2
16-2168134-C-CTA c.858_859insTA p.Gly287* Nonsense 5/46 - 1
16-2168139-G-A c.854C>T p.Ala285Val Missense 5/46 - 1
16-2168140-GCCAGAGG-G c.856_862del p.Gly287* Frameshift 5/46 - 3
16-2168166-G-A c.827C>T p.Thr276Ile Missense 5/46 - 2
16-2168181-G-T c.812C>A p.Ala271Asp Missense 5/46 - 1
16-2168197-G-A c.796C>T p.Gln266* Nonsense 5/46 - 2
16-2168256-GGA-G c.736_737del p.Ser246Profs*14 Frameshift 5/46 - 1
16-2168287-G-A c.706C>T p.Gln236* Nonsense 5/46 - 2
16-2168288-GGGCCGCCC-G c.698_705del p.Gly233Alafs*25 Frameshift 5/46 - 1
16-2168304-C-G c.689G>C p.Cys230Ser Missense 5/46 - 1
16-2168314-G-A c.679C>T p.Gln227* Nonsense 5/46 - 1
16-2168319-G-A c.674C>T p.Ser225Leu Missense 5/46 - 1
16-2168319-G-T c.674C>A p.Ser225* Nonsense 5/46 - 1
16-2168350-A-AAGCA c.643_644insGCTT p.Phe215Cysfs*47 Frameshift 5/46 - 1
16-2168350-A-AA c.644dup p.Ser216Leufs*45 Frameshift 5/46 - 1
16-2168364-C-T c.629G>A p.Cys210Tyr Missense 5/46 - 1
16-2168365-A-C c.628T>G p.Cys210Gly Missense 5/46 - 1
16-2168427-G-C c.566C>G p.Ser189* Nonsense 5/46 - 1
16-2168428-A-C c.565T>G p.Ser189Ala Missense 5/46 - 1
16-2168721-AGCCAGGGAGCCAGGCCCAGCA-A c.467_487del p.Ala156_Ala162del InFrameDeletion 4/46 - 1
16-2168721-AG-A c.485del p.Ala162Valfs*128 Frameshift 4/46 - 1
16-2168722-C-T c.484G>A p.Ala162Thr Missense 4/46 - 1
16-2168742-C-T c.464G>A p.Cys155Tyr Missense 4/46 - 1
16-2168753-CCTCGGGCTGC-C c.450_459del p.Glu151Argfs*136 Frameshift 4/46 - 1
16-2168761-G-A c.445C>T p.Gln149* Nonsense 4/46 - 1
16-2168770-G-C c.436C>G p.Arg146Gly Missense 4/46 - 1
16-2168789-C-G c.417G>C p.Trp139Cys Missense 4/46 - 1
16-2168789-C-A c.417G>T p.Trp139Cys Missense 4/46 - 1
16-2168794-G-A c.412C>T p.Arg138* Nonsense 4/46 - 2
16-2168814-ACA-A c.393_394del p.Cys131Trpfs*47 Frameshift 4/46 - 1
16-2168829-G-A c.377C>T p.Pro126Leu Missense 4/46 - 1
16-2168833-T-C c.373A>G p.Asn125Asp Missense 4/46 - 1
16-2168838-C-G c.368G>C p.Ser123Thr Missense 4/46 - 1
16-2168844-T-A c.362A>T p.Asn121Ile Missense 4/46 - 2
16-2169116-T-TA c.357_358insT p.Ile120Tyrfs*9 SpliceDonorInsertion 3/46 - 1
16-2169116-T-TC c.357_358insG p.Ile120Aspfs*9 SpliceDonorInsertion 3/46 - 1
16-2169116-T-TG c.357_358insC p.Ile120Hisfs*9 SpliceDonorInsertion 3/46 - 1
16-2169118-T-TT c.358dup p.Ile120Asnfs*9 SpliceDonorInsertion 3/46 - 1
16-2169121-CT-GC c.352_353delinsGC p.Ser118Ala Missense 3/46 - 1
16-2169128-TTAAAT-T c.348_352del p.Asn116Lysfs*2 Frameshift 3/46 - 3
16-2169131-A-AA c.345dup p.Asn116* Nonsense 3/46 - 1
16-2169147-T-A c.327A>T p.Gly109Gly Synonymous 3/46 - 1
16-2169154-TTCT-T c.323_325del p.Glu108del InFrameDeletion 3/46 - 1
16-2169157-AA-CC c.316_317delinsGG p.Leu106Gly Missense 3/46 - 1
16-2169171-G-T c.303C>A p.Asn101Lys Missense 3/46 - 1
16-2169171-G-C c.303C>G p.Asn101Lys Missense 3/46 - 1
16-2169173-T-C c.301A>G p.Asn101Asp Missense 3/46 - 1
16-2169175-GTTG-G c.303_305del p.Asn101del InFrameDeletion 3/46 - 1
16-2169178-C-A c.296G>T p.Ser99Ile Missense 3/46 - 3
16-2169185-C-T c.289G>A p.Asp97Asn Missense 3/46 - 1
16-2169188-T-C c.288-2A>G - IntronicSNV - 2/45 1
16-2169352-CGC-TTT c.241_243delinsAAA p.Ala81Lys Missense 2/46 - 1
16-2169371-G-A c.224C>T p.Ser75Phe Missense 2/46 - 1
16-2170577-A-C c.216-1198T>G - IntronicSNV - 1/45 1
16-2185477-G-GG c.214dup p.Leu72Profs*42 SpliceDonorInsertion 1/46 - 1
16-2185477-G-GA c.213_214insT p.Leu72Serfs*42 SpliceDonorInsertion 1/46 - 1
16-2185477-G-GT c.213_214insA p.Leu72Thrfs*42 SpliceDonorInsertion 1/46 - 1
16-2185478-C-CC c.213dup p.Leu72Alafs*42 SpliceDonorInsertion 1/46 - 1
16-2185497-A-T c.194T>A p.Ile65Asn Missense 1/46 - 1
16-2185497-A-G c.194T>C p.Ile65Thr Missense 1/46 - 1
16-2185509-G-A c.182C>T p.Pro61Leu Missense 1/46 - 4
16-2185519-GTCCGCAG-G c.167_173del p.Leu56Argfs*15 Frameshift 1/46 - 1
16-2185521-C-A c.170G>T p.Arg57Leu Missense 1/46 - 1
16-2185529-GCG-TGG c.161_162delinsCA p.Arg54Pro Missense 1/46 - 1
16-2185531-G-A c.160C>T p.Arg54Cys Missense 1/46 - 1
16-2185547-GCG-AAG c.143_144delinsTT p.Arg48Leu Missense 1/46 - 1
16-2185575-C-T c.116G>A p.Cys39Tyr Missense 1/46 - 2
16-2185577-G-A c.114C>T p.Leu38Leu Synonymous 1/46 - 1
16-2185584-G-GA c.106_107insT p.Pro36Leufs*78 Frameshift 1/46 - 1
16-2185584-G-T c.107C>A p.Pro36His Missense 1/46 - 3
16-2185588-G-GG c.108dup p.Cys37Leufs*77 Frameshift 1/46 - 2
16-2185601-G-T c.90C>A p.Cys30* Nonsense 1/46 - 1
16-2185608-C-G c.83G>C p.Arg28Pro Missense 1/46 - 1
16-2185622-C-CC c.74dup p.Gly27Argfs*87 Frameshift 1/46 - 1
16-2185628-CGC-TTT c.61_63delinsAAA p.Ala21Lys Missense 1/46 - 1
16-2185653-A-T c.38T>A p.Leu13Gln Missense 1/46 - 1
16-2185688-GC-G c.3del p.Met1? CdsStartDeletion 1/46 - 2
16-2185690-T-TT c.1dup p.Met1Asnfs*? CdsStartInsertion 1/46 - 2