| Transcript | Gene symbol | Prediction | Tree vote | Model | Prediction problem | Splice site change | Known ClinVar disease mutation | Potential ClinVar disease mutation | Amino acid changes | Variant type | dbSNP ID | Protein length | Features at a glance |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ENST00000409508(MANE Select) | DNAH11 | Benign | 47|53 | simple_ | No | Single base exchange | Normal |
|
| Analysed issue | Analysis result | ||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr7:21588624C>T (GRCh38) | ||||||||||||||||
| Gene symbol | DNAH11 | ||||||||||||||||
| Gene constraints | LOEUF: 0.91, LOF (oe): 0.84, misssense (oe): 1.25, synonymous (oe): 1.24 (gnomAD) | ||||||||||||||||
| Ensembl transcript ID | ENST00000409508.8 | ||||||||||||||||
| Genbank transcript ID | NM_001277115 (exact from MANE) | ||||||||||||||||
| UniProt / AlphaMissense peptide | DYH11_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||
| Variant type | Single base exchange | ||||||||||||||||
| Gene region | CDS | ||||||||||||||||
| DNA changes | c.1961C>T g.45586C>T | ||||||||||||||||
| AA changes |
| ||||||||||||||||
| Frameshift | No | ||||||||||||||||
| Length of protein | Normal | ||||||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | ||||||||||||||||
| Variant DBs |
| ||||||||||||||||
| Protein conservation | |||||||||||||||||
| Protein features |
| ||||||||||||||||
| Phylogenetic conservation |
| ||||||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | ||||||||||||||||
| Distance from splice site | 13 | ||||||||||||||||
| Kozak consensus sequence altered? | No | ||||||||||||||||
| poly(A) signal | N/A | ||||||||||||||||
| AA sequence altered | Yes | ||||||||||||||||
| Chromosome | 7 | ||||||||||||||||
| Strand | 1 | ||||||||||||||||
| Original gDNA sequence snippet | GTTTTGGTCAAACTTCGCATCTCTCCGTTATCTGTAAGTAG | ||||||||||||||||
| Altered gDNA sequence snippet | GTTTTGGTCAAACTTCGCATTTCTCCGTTATCTGTAAGTAG | ||||||||||||||||
| Original cDNA sequence snippet | GTTTTGGTCAAACTTCGCATCTCTCCGTTATCTATTTTTGG | ||||||||||||||||
| Altered cDNA sequence snippet | GTTTTGGTCAAACTTCGCATTTCTCCGTTATCTATTTTTGG | ||||||||||||||||
| Wildtype AA sequence | MAAQVAAREA RDFREAPTLR LTSGAGLEAV GAVELEEEEE NEEEAAARRA RSFAQDARVR FLGGRLAMML GFTEEKWSQY LESEDNRQVL GEFLESTSPA CLVFSFAASG RLAASQEIPR DANHKLVFIS KKITESIGVN DFSQVVLFGE LPALSLGHVS AFLDEILVPV LSNKNNHKSW SCFTSQDMEY HIEVMKKKMY IFRGKMSRRT LLPIPTVAGK MDLDQNCSEN KPPSNERIIL HAIESVVIEW SHQIQEIIER DSVQRLLNGL HLSPQAELDF WMMRRENLSC IYDQLQAPVV LKMVKILTTK QSSYFPTLKD IFLAVENALL EAQDVELYLR PLRRHIQCLQ ETEFPQTRIL IAPLFHTICL IWSHSKFYNT PARVIVLLQE FCNLFINQAT AYLSPEDLLR GEIEESLEKV QVAVNILKTF KNSFFNYRKK LASYFMGRKL RPWDFQSHLV FCRFDKFLDR LIKIEDIFAT TLEFEKLERL EFGGTKGAIL NGQVHEMSEE LMELCKLFKQ STYDPSDCTN MEFESDYVAF KSKTLEFDRR LGTIICEAFF NCNGLEAAFK LLTIFGNFLE KPVVMEIFSL HYSTLVHMFN TELDVCKQLY NEHMKQIECG HVVLNKNMPF TSGNMKWAQQ VLQRLQMFWS NFASLRYLFL GNPDHALVYQ KYVEMTTLLD QFESRIYNEW KSNVDEICEF NLNQPLVKFS AINGLLCVNF DPKLVAVLRE VKYLLMLKKQ DIPDSALAIF KKRNTILKYI GNLDLLVQGY NKLKQTLLEV EYPLIEDELR AIDEQLTAAT TWLTWQDDCW GYIERVRAAT SELEHRVERT QKNVKVIQQT MRGWARCVLP PRREHRREAA FTLEDKGDLF TKKYKLIQGD GCKIHNLVEE NRKLFKANPS LDTWKIYVEF IDDIVVEGFF QAIMHDLDFF LKNTEKQLKP APFFQAQMIL LPPEIVFKPS LDREAGDGFY DLVEEMLCNS FRMSAQMNRI ATHLEIKNYQ NDMDNMLGLA EVRQEIMNRV VNVINKVLDF RNTLETHTYL WVDDRAEFMK HFLLYGHAVS SDEMDAHANE EIPEQPPTLE QFKEQIDIYE ALYVQMSKFE DFRVFDSWFK VDMKPFKVSL LTIIKKWSWM FQEHLLRFVI DSLNELQEFI KETDSGLQRE LNEGDHDGLV DIMVHLLAVR SRQRATDELF EPLKETITLL ESYGQKMPEQ VYIQLEELPE RWETTKKIAA TVRHEVSPLH NAEVTLIRKK CILFDAKQAE FRERFRHYAP LGFNAENPYT ALDKANEELE ALEEEMLQMQ ESTRLFEVAL PEYKQMKQCR KEIKLLKGLW DVIIYVRRSI DNWTKTQWRQ IHVEQMDVEL RRFAKEIWSL NKEVRVWDAY TGLEGTVKDM TASLRAITEL QSPALRDRHW HQLMKAIGVK FLINEATTLA DLLALRLHRV EDDVRRIVDK AVKELGTEKV ITEISQTWAT MKFSYEVHYR TGIPLLKSDE QLFETLEHNQ VQLQTLLQSK YVEYFIEQVL SWQNKLNIAD LVIFTWMEVQ RTWSHLESIF VCSEDIRIQL VKDARRFDGV DAEFKELMFK TAKVENVLEA TCRPNLYEKL KDLQSRLSLC EKALAEYLET KRIAFPRFYF VSSADLLDIL SKGAQPKQVT CHLAKLFDSI ADLQFEDNQD VSAHRAVGMY SKEKEYVPFQ AECECVGHVE TWLLQLEQTM QETVRHSITE AIVAYEEKPR ELWIFDFPAQ VALTSSQIWW TTDVGIAFSR LEEGYETALK DFHKKQISQL NTLITLLLGE LPPGDRQKIM TICTIDVHAR DVVAKLISQK VVSPQAFTWL SQLRHRWEDT QKHCFVNICD AQFQYFYEYL GNSPRLVITP LTDRCYITLT QSLHLTMSGA PAGPAGTGKT ETTKDLGRAL GMMVYVFNCS EQMDYKSIGN IYKGLVQTGA WGCFDEFNRI SVEVLSVVAV QVKMIHDAIR NRKKRFVFLG EAITLKPSVG IFITMNPGYA GRTELPENLK ALFRPCAMVA PDIELICEIL LVAEGFVDAR ALARKFITLY TLCKELLSKQ DHYDWGLRAI KSVLVVAGSL KRGDKNRPED QVLMRALRDF NMPKIVTDDI PVFLGLVGDL FPALDVPRRR KLHFEQMVRQ STLELRLQPE ESFILKVVQL EELLAVRHSV FVVGNAGTGK SKILRTLNRT YVNMKQKPVW NDLNPKAVTT DELFGFIHHA TREWKDGKIV YSYFIGLFSS ILREQANLKH DGPKWIVLDG DIDPMWIESL NTVMDDNKVL TLASNERIAL TPFMRLLFEI HHLRSATPAT VSRAGILYVN PQDLGWNPYV ASWIDRRRHQ SEKANLTILF DKYVPACLDK LRTSFKTITS IPESSLVQTL CVLLECLLTP ENVPSDSPKE VYEVYFVFAC IWAFGGTLLQ DQISDYQADF SRWWQKEMKA VKFPSQGTIF DYYVDHKTKK LLPWADKIAQ FTMDPDVPLQ TVLVHTTETA RLRYFMELLL EKGKPLMLVG NAGVGKTVFV GDTLASLSED YIVSRVPFNY YTTSTALQKI LEKPLEKKAG HNYGPGGNKK LIYFIDDMNM PEVDLYGTVQ PHTLIRQHID YGHWYDRQKV MLKEIHNCQY VACMNPMVGS FTINPRLQRH FTVFAFNFPS LDALNTIYGQ IFSFHFQQQA FAPSILRSGP TLIQATIAFH QTMMCNFLPT AIKFHYIFNL RDLSNVFQGI LFASPECLKG PLDLIHLWLH ESARVYGDKL IDKKDCDLFQ RRMLETAYKY FEGIDSHMLL QQPLIYCHFA DRGKDPHYMP VKDWEVLKTI LTETLDNYNE LNAAMHLVLF EDAMQHVCRI SRILRTPQGC ALLVGVGGSG KQSLSRLAAY LRGLEVFQIT LTEGYGIQEL RVDLANLYIR TGAKNMPTVF LLTDAQVLDE SFLVLINDLL ASGEIPDLFS DEDVDKIISG IHNEVHALGM VDSRENCWKF FMARVRLQLK IILCFSPVGR TLRVRARKFP AIVNCTAIDW FHAWPQEALV SVSRRFIEET KGIEPVHKDS ISLFMAHVHT TVNEMSTRYY QNERRHNYTT PKSFLEQISL FKNLLKKKQN EVSEKKERLV NGIQKLKTTA SQVGDLKARL ASQEAELQLR NHDAEALITK IGLQTEKVSR EKTIADAEER KVTAIQTEVF QKQRECEADL LKAEPALVAA TAALNTLNRV NLSELKAFPN PPIAVTNVTA AVMVLLAPRG RVPKDRSWKA AKVFMGKVDD FLQALINYDK EHIPENCLKV VNEHYLKDPE FNPNLIRTKS FAAAGLCAWV INIIKFYEVY CDVEPKRQAL AQANLELAAA TEKLEAIRKK LVDLDRNLSR LTASFEKATA EKVRCQEEVN QTNKTIKLAN RLVKELEAKK IRWGQSIKSF EAQEKTLCGD VLLTAAFVSY VGPFTRQYRQ ELVHCKWVPF LQQKVSIPLT EGLDLISMLT DDATIAAWNN EGLPSDRMST ENAAILTHCE RWPLVIDPQQ QGIKWIKNKY GMDLKVTHLG QKGFLNAIET ALAFGDVILI ENLEETIDPV LDPLLGRNTI KKGKYIRIGD KECEFNKNFR LILHTKLANP HYKPELQAQT TLLNFTVTED GLEAQLLAEV VSIERPDLEK LKLVLTKHQN DFKIELKYLE DDLLLRLSAA EGSFLDDTKL VERLEATKTT VAEIEHKVIE AKENERKINE ARECYRPVAA RASLLYFVIN DLQKINPLYQ FSLKAFNVLF HRAIEQADKV EDMQGRISIL MESITHAVFL YTSQALFEKD KLTFLSQMAF QILLRKKEID PLELDFLLRF TVEHTHLSPV DFLTSQSWSA IKAIAVMEEF RGIDRDVEGS AKQWRKWVES ECPEKEKLPQ EWKKKSLIQK LILLRAMRPD RMTYALRNFV EEKLGAKYVE RTRLDLVKAF EESSPATPIF FILSPGVDAL KDLEILGKRL GFTIDSGKFH NVSLGQGQET VAEVALEKAS KGGHWVILQN VHLVAKWLGT LEKLLERFSQ GSHRDYRVFM SAESAPTPDE HIIPQGLLEN SIKITNEPPT GMLANLHAAL YNFDQDTLEI CSKEQEFKSI LFSLCYFHAC VAGRLRFGPQ GWSRSYPFNP GDLTICASVL YNYLEANSKV PWEDLRYLFG EIMYGGHITD DWDRKLCRVY LEEFMNPSLT EDELMLAPGF AAPPYLDYAG YHQYIEEMLP PESPALYGLH PNAEIEFLTV TSNTLFRTLL EMQPRNALSG DELGQSTEEK VKNVLDDILE KLPEEFNMAE IMQKNSNRSP YVLVCFQECE RMNILIREIR ISLEQLDLSL KGELALSPAV EAQQFALSYD TVPDTWSKLA YPSTYGLAQW FNDLLLRCRE LDTWTQDLTL PAVVWLSGFF NPQSFLTAIM QTMARKNEWP LDKTRLTADV TKKTKEDYGH PPREGAYLHG LFMEGARWDT QAGTIVEARL KELACPMPVI FAKATPVDRQ ETKQTYECPV YRTKLRGPSY IWTFRLKSEE KTAKWVLAGV ALLLEA* | ||||||||||||||||
| Mutated AA sequence | MAAQVAAREA RDFREAPTLR LTSGAGLEAV GAVELEEEEE NEEEAAARRA RSFAQDARVR FLGGRLAMML GFTEEKWSQY LESEDNRQVL GEFLESTSPA CLVFSFAASG RLAASQEIPR DANHKLVFIS KKITESIGVN DFSQVVLFGE LPALSLGHVS AFLDEILVPV LSNKNNHKSW SCFTSQDMEY HIEVMKKKMY IFRGKMSRRT LLPIPTVAGK MDLDQNCSEN KPPSNERIIL HAIESVVIEW SHQIQEIIER DSVQRLLNGL HLSPQAELDF WMMRRENLSC IYDQLQAPVV LKMVKILTTK QSSYFPTLKD IFLAVENALL EAQDVELYLR PLRRHIQCLQ ETEFPQTRIL IAPLFHTICL IWSHSKFYNT PARVIVLLQE FCNLFINQAT AYLSPEDLLR GEIEESLEKV QVAVNILKTF KNSFFNYRKK LASYFMGRKL RPWDFQSHLV FCRFDKFLDR LIKIEDIFAT TLEFEKLERL EFGGTKGAIL NGQVHEMSEE LMELCKLFKQ STYDPSDCTN MEFESDYVAF KSKTLEFDRR LGTIICEAFF NCNGLEAAFK LLTIFGNFLE KPVVMEIFSL HYSTLVHMFN TELDVCKQLY NEHMKQIECG HVVLNKNMPF TSGNMKWAQQ VLQRLQMFWS NFAFLRYLFL GNPDHALVYQ KYVEMTTLLD QFESRIYNEW KSNVDEICEF NLNQPLVKFS AINGLLCVNF DPKLVAVLRE VKYLLMLKKQ DIPDSALAIF KKRNTILKYI GNLDLLVQGY NKLKQTLLEV EYPLIEDELR AIDEQLTAAT TWLTWQDDCW GYIERVRAAT SELEHRVERT QKNVKVIQQT MRGWARCVLP PRREHRREAA FTLEDKGDLF TKKYKLIQGD GCKIHNLVEE NRKLFKANPS LDTWKIYVEF IDDIVVEGFF QAIMHDLDFF LKNTEKQLKP APFFQAQMIL LPPEIVFKPS LDREAGDGFY DLVEEMLCNS FRMSAQMNRI ATHLEIKNYQ NDMDNMLGLA EVRQEIMNRV VNVINKVLDF RNTLETHTYL WVDDRAEFMK HFLLYGHAVS SDEMDAHANE EIPEQPPTLE QFKEQIDIYE ALYVQMSKFE DFRVFDSWFK VDMKPFKVSL LTIIKKWSWM FQEHLLRFVI DSLNELQEFI KETDSGLQRE LNEGDHDGLV DIMVHLLAVR SRQRATDELF EPLKETITLL ESYGQKMPEQ VYIQLEELPE RWETTKKIAA TVRHEVSPLH NAEVTLIRKK CILFDAKQAE FRERFRHYAP LGFNAENPYT ALDKANEELE ALEEEMLQMQ ESTRLFEVAL PEYKQMKQCR KEIKLLKGLW DVIIYVRRSI DNWTKTQWRQ IHVEQMDVEL RRFAKEIWSL NKEVRVWDAY TGLEGTVKDM TASLRAITEL QSPALRDRHW HQLMKAIGVK FLINEATTLA DLLALRLHRV EDDVRRIVDK AVKELGTEKV ITEISQTWAT MKFSYEVHYR TGIPLLKSDE QLFETLEHNQ VQLQTLLQSK YVEYFIEQVL SWQNKLNIAD LVIFTWMEVQ RTWSHLESIF VCSEDIRIQL VKDARRFDGV DAEFKELMFK TAKVENVLEA TCRPNLYEKL KDLQSRLSLC EKALAEYLET KRIAFPRFYF VSSADLLDIL SKGAQPKQVT CHLAKLFDSI ADLQFEDNQD VSAHRAVGMY SKEKEYVPFQ AECECVGHVE TWLLQLEQTM QETVRHSITE AIVAYEEKPR ELWIFDFPAQ VALTSSQIWW TTDVGIAFSR LEEGYETALK DFHKKQISQL NTLITLLLGE LPPGDRQKIM TICTIDVHAR DVVAKLISQK VVSPQAFTWL SQLRHRWEDT QKHCFVNICD AQFQYFYEYL GNSPRLVITP LTDRCYITLT QSLHLTMSGA PAGPAGTGKT ETTKDLGRAL GMMVYVFNCS EQMDYKSIGN IYKGLVQTGA WGCFDEFNRI SVEVLSVVAV QVKMIHDAIR NRKKRFVFLG EAITLKPSVG IFITMNPGYA GRTELPENLK ALFRPCAMVA PDIELICEIL LVAEGFVDAR ALARKFITLY TLCKELLSKQ DHYDWGLRAI KSVLVVAGSL KRGDKNRPED QVLMRALRDF NMPKIVTDDI PVFLGLVGDL FPALDVPRRR KLHFEQMVRQ STLELRLQPE ESFILKVVQL EELLAVRHSV FVVGNAGTGK SKILRTLNRT YVNMKQKPVW NDLNPKAVTT DELFGFIHHA TREWKDGKIV YSYFIGLFSS ILREQANLKH DGPKWIVLDG DIDPMWIESL NTVMDDNKVL TLASNERIAL TPFMRLLFEI HHLRSATPAT VSRAGILYVN PQDLGWNPYV ASWIDRRRHQ SEKANLTILF DKYVPACLDK LRTSFKTITS IPESSLVQTL CVLLECLLTP ENVPSDSPKE VYEVYFVFAC IWAFGGTLLQ DQISDYQADF SRWWQKEMKA VKFPSQGTIF DYYVDHKTKK LLPWADKIAQ FTMDPDVPLQ TVLVHTTETA RLRYFMELLL EKGKPLMLVG NAGVGKTVFV GDTLASLSED YIVSRVPFNY YTTSTALQKI LEKPLEKKAG HNYGPGGNKK LIYFIDDMNM PEVDLYGTVQ PHTLIRQHID YGHWYDRQKV MLKEIHNCQY VACMNPMVGS FTINPRLQRH FTVFAFNFPS LDALNTIYGQ IFSFHFQQQA FAPSILRSGP TLIQATIAFH QTMMCNFLPT AIKFHYIFNL RDLSNVFQGI LFASPECLKG PLDLIHLWLH ESARVYGDKL IDKKDCDLFQ RRMLETAYKY FEGIDSHMLL QQPLIYCHFA DRGKDPHYMP VKDWEVLKTI LTETLDNYNE LNAAMHLVLF EDAMQHVCRI SRILRTPQGC ALLVGVGGSG KQSLSRLAAY LRGLEVFQIT LTEGYGIQEL RVDLANLYIR TGAKNMPTVF LLTDAQVLDE SFLVLINDLL ASGEIPDLFS DEDVDKIISG IHNEVHALGM VDSRENCWKF FMARVRLQLK IILCFSPVGR TLRVRARKFP AIVNCTAIDW FHAWPQEALV SVSRRFIEET KGIEPVHKDS ISLFMAHVHT TVNEMSTRYY QNERRHNYTT PKSFLEQISL FKNLLKKKQN EVSEKKERLV NGIQKLKTTA SQVGDLKARL ASQEAELQLR NHDAEALITK IGLQTEKVSR EKTIADAEER KVTAIQTEVF QKQRECEADL LKAEPALVAA TAALNTLNRV NLSELKAFPN PPIAVTNVTA AVMVLLAPRG RVPKDRSWKA AKVFMGKVDD FLQALINYDK EHIPENCLKV VNEHYLKDPE FNPNLIRTKS FAAAGLCAWV INIIKFYEVY CDVEPKRQAL AQANLELAAA TEKLEAIRKK LVDLDRNLSR LTASFEKATA EKVRCQEEVN QTNKTIKLAN RLVKELEAKK IRWGQSIKSF EAQEKTLCGD VLLTAAFVSY VGPFTRQYRQ ELVHCKWVPF LQQKVSIPLT EGLDLISMLT DDATIAAWNN EGLPSDRMST ENAAILTHCE RWPLVIDPQQ QGIKWIKNKY GMDLKVTHLG QKGFLNAIET ALAFGDVILI ENLEETIDPV LDPLLGRNTI KKGKYIRIGD KECEFNKNFR LILHTKLANP HYKPELQAQT TLLNFTVTED GLEAQLLAEV VSIERPDLEK LKLVLTKHQN DFKIELKYLE DDLLLRLSAA EGSFLDDTKL VERLEATKTT VAEIEHKVIE AKENERKINE ARECYRPVAA RASLLYFVIN DLQKINPLYQ FSLKAFNVLF HRAIEQADKV EDMQGRISIL MESITHAVFL YTSQALFEKD KLTFLSQMAF QILLRKKEID PLELDFLLRF TVEHTHLSPV DFLTSQSWSA IKAIAVMEEF RGIDRDVEGS AKQWRKWVES ECPEKEKLPQ EWKKKSLIQK LILLRAMRPD RMTYALRNFV EEKLGAKYVE RTRLDLVKAF EESSPATPIF FILSPGVDAL KDLEILGKRL GFTIDSGKFH NVSLGQGQET VAEVALEKAS KGGHWVILQN VHLVAKWLGT LEKLLERFSQ GSHRDYRVFM SAESAPTPDE HIIPQGLLEN SIKITNEPPT GMLANLHAAL YNFDQDTLEI CSKEQEFKSI LFSLCYFHAC VAGRLRFGPQ GWSRSYPFNP GDLTICASVL YNYLEANSKV PWEDLRYLFG EIMYGGHITD DWDRKLCRVY LEEFMNPSLT EDELMLAPGF AAPPYLDYAG YHQYIEEMLP PESPALYGLH PNAEIEFLTV TSNTLFRTLL EMQPRNALSG DELGQSTEEK VKNVLDDILE KLPEEFNMAE IMQKNSNRSP YVLVCFQECE RMNILIREIR ISLEQLDLSL KGELALSPAV EAQQFALSYD TVPDTWSKLA YPSTYGLAQW FNDLLLRCRE LDTWTQDLTL PAVVWLSGFF NPQSFLTAIM QTMARKNEWP LDKTRLTADV TKKTKEDYGH PPREGAYLHG LFMEGARWDT QAGTIVEARL KELACPMPVI FAKATPVDRQ ETKQTYECPV YRTKLRGPSY IWTFRLKSEE KTAKWVLAGV ALLLEA* | ||||||||||||||||
| Position of stopcodon in wt / mu CDS | 13551 / 13551 | ||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 4517 / 4517 | ||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 13758 / 13758 | ||||||||||||||||
| Position of start ATG in wt / mu cDNA | 208 / 208 | ||||||||||||||||
| Last intron/exon boundary | 13510 | ||||||||||||||||
| Theoretical NMD boundary in CDS | 13252 | ||||||||||||||||
| Length of CDS | 13551 | ||||||||||||||||
| Coding sequence (CDS) position | 1961 | ||||||||||||||||
| cDNA position | 2168 | ||||||||||||||||
| gDNA position | 45586 | ||||||||||||||||
| Chromosomal position | 21588624 | ||||||||||||||||
| Speed | 0.07 s | ||||||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project