| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DMD | Benign | 0|200 | without_ | No | Single base exchange | N/A |
| ||||||
ENST00000357033(MANE Select) | DMD | Benign | 0|200 | without_ | No | Single base exchange | N/A |
| |||||
| DMD | Benign | 0|200 | without_ | No | Single base exchange | N/A |
| ||||||
| DMD | Benign | 0|200 | without_ | No | Single base exchange | N/A |
| ||||||
| DMD | Benign | 0|200 | without_ | No | Single base exchange | N/A |
| ||||||
| DMD | Benign | 0|200 | without_ | No | Single base exchange | N/A |
| ||||||
| DMD | Benign | 0|200 | without_ | No | Single base exchange | N/A |
| ||||||
| DMD | Benign | 0|200 | without_ | No | Single base exchange | N/A |
| ||||||
| DMD | Benign | 0|200 | without_ | No | Single base exchange | N/A |
| ||||||
| DMD | Benign | 0|200 | without_ | No | Single base exchange | N/A |
|
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | ChrX:31773947T>C (GRCh38) | |||||||||||||
| Gene symbol | DMD | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000619831.5 | |||||||||||||
| Genbank transcript ID | NM_004011 (by similarity), NM_004012 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | intron | |||||||||||||
| DNA changes | c.3510+13A>G g.1565663A>G | |||||||||||||
| AA changes | N/A | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | N/A | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | 13 | |||||||||||||
| Kozak consensus sequence altered? | N/A | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | N/A | |||||||||||||
| Chromosome | 23 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | AGCAGAAGGTATGAGAAAAAATGATAAAAGTTGGCAGAAGT | |||||||||||||
| Altered gDNA sequence snippet | AGCAGAAGGTATGAGAAAAAGTGATAAAAGTTGGCAGAAGT | |||||||||||||
| Original cDNA sequence snippet | N/A | |||||||||||||
| Altered cDNA sequence snippet | N/A | |||||||||||||
| Wildtype AA sequence | MSARKLRNLS YKKAVRRQKL LEQSIQSAQE TEKSLHLIQE SLTFIDKQLA AYIADKVDAA QMPQEAQKIQ SDLTSHEISL EEMKKHNQGK EAAQRVLSQI DVAQKKLQDV SMKFRLFQKP ANFEQRLQES KMILDEVKMH LPALETKSVE QEVVQSQLNH CVNLYKSLSE VKSEVEMVIK TGRQIVQKKQ TENPKELDER VTALKLHYNE LGAKVTERKQ QLEKCLKLSR KMRKEMNVLT EWLAATDMEL TKRSAVEGMP SNLDSEVAWG KATQKEIEKQ KVHLKSITEV GEALKTVLGK KETLVEDKLS LLNSNWIAVT SRAEEWLNLL LEYQKHMETF DQNVDHITKW IIQADTLLDE SEKKKPQQKE DVLKRLKAEL NDIRPKVDST RDQAANLMAN RGDHCRKLVE PQISELNHRF AAISHRIKTG KASIPLKELE QFNSDIQKLL EPLEAEIQQG VNLKEEDFNK DMNEDNEGTV KELLQRGDNL QQRITDERKR EEIKIKQQLL QTKHNALKDL RSQRRKKALE ISHQWYQYKR QADDLLKCLD DIEKKLASLP EPRDERKIKE IDRELQKKKE ELNAVRRQAE GLSEDGAAMA VEPTQIQLSK RWREIESKFA QFRRLNFAQI HTVREETMMV MTEDMPLEIS YVPSTYLTEI THVSQALLEV EQLLNAPDLC AKDFEDLFKQ EESLKNIKDS LQQSSGRIDI IHSKKTAALQ SATPVERVKL QEALSQLDFQ WEKVNKMYKD RQGRFDRSVE KWRRFHYDIK IFNQWLTEAE QFLRKTQIPE NWEHAKYKWY LKELQDGIGQ RQTVVRTLNA TGEEIIQQSS KTDASILQEK LGSLNLRWQE VCKQLSDRKK RLEEQKNILS EFQRDLNEFV LWLEEADNIA SIPLEPGKEQ QLKEKLEQVK LLVEELPLRQ GILKQLNETG GPVLVSAPIS PEEQDKLENK LKQTNLQWIK VSRALPEKQG EIEAQIKDLG QLEKKLEDLE EQLNHLLLWL SPIRNQLEIY NQPNQEGPFD VKETEIAVQA KQPDVEEILS KGQHLYKEKP ATQPVKRKLE DLSSEWKAVN RLLQELRAKQ PDLAPGLTTI GASPTQTVTL VTQPVVTKET AISKLEMPSS LMLEVPALAD FNRAWTELTD WLSLLDQVIK SQRVMVGDLE DINEMIIKQK ATMQDLEQRR PQLEELITAA QNLKNKTSNQ EARTIITDRI ERIQNQWDEV QEHLQNRRQQ LNEMLKDSTQ WLEAKEEAEQ VLGQARAKLE SWKEGPYTVD AIQKKITETK QLAKDLRQWQ TNVDVANDLA LKLLRDYSAD DTRKVHMITE NINASWRSIH KRVSEREAAL EETHRLLQQF PLDLEKFLAW LTEAETTANV LQDATRKERL LEDSKGVKEL MKQWQDLQGE IEAHTDVYHN LDENSQKILR SLEGSDDAVL LQRRLDNMNF KWSELRKKSL NIRSHLEASS DQWKRLHLSL QELLVWLQLK DDELSRQAPI GGDFPAVQKQ NDVHRAFKRE LKTKEPVIMS TLETVRIFLT EQPLEGLEKL YQEPRELPPE ERAQNVTRLL RKQAEEVNTE WEKLNLHSAD WQRKIDETLE RLRELQEATD ELDLKLRQAE VIKGSWQPVG DLLIDSLQDH LEKVKALRGE IAPLKENVSH VNDLARQLTT LGIQLSPYNL STLEDLNTRW KLLQVAVEDR VRQLHEAHRD FGPASQHFLS TSVQGPWERA ISPNKVPYYI NHETQTTCWD HPKMTELYQS LADLNNVRFS AYRTAMKLRR LQKALCLDLL SLSAACDALD QHNLKQNDQP MDILQIINCL TTIYDRLEQE HNNLVNVPLC VDMCLNWLLN VYDTGRTGRI RVLSFKTGII SLCKAHLEDK YRYLFKQVAS STGFCDQRRL GLLLHDSIQI PRQLGEVASF GGSNIEPSVR SCFQFANNKP EIEAALFLDW MRLEPQSMVW LPVLHRVAAA ETAKHQAKCN ICKECPIIGF RYRSLKHFNY DICQSCFFSG RVAKGHKMHY PMVEYCTPTT SGEDVRDFAK VLKNKFRTKR YFAKHPRMGY LPVQTVLEGD NMETPVTLIN FWPVDSAPAS SPQLSHDDTH SRIEHYASRL AEMENSNGSY LNDSISPNES IDDEHLLIQH YCQSLNQDSP LSQPRSPAQI LISLESEERG ELERILADLE EENRNLQAEY DRLKQQHEHK GLSPLPSPPE MMPTSPQSPR DAELIAEAKL LRQHKGRLEA RMQILEDHNK QLESQLHRLR QLLEQPQAEA KVNGTTVSSP STSLQRSDSS QPMLLRVVGS QTSDSMGEED LLSPPQDTST GLEEVMEQLN NSFPSSRGRN TPGKPMREDT M* | |||||||||||||
| Mutated AA sequence | ||||||||||||||
| Position of stopcodon in wt / mu CDS | N/A | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | N/A | |||||||||||||
| Position of stopcodon in wt / mu cDNA | N/A | |||||||||||||
| Position of start ATG in wt / mu cDNA | 181 / 181 | |||||||||||||
| Last intron/exon boundary | 7194 | |||||||||||||
| Theoretical NMD boundary in CDS | 6963 | |||||||||||||
| Length of CDS | 7026 | |||||||||||||
| Coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position | N/A | |||||||||||||
| gDNA position | 1565663 | |||||||||||||
| Chromosomal position | 31773947 | |||||||||||||
| Speed | 0.03 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
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | ChrX:31773947T>C (GRCh38) | |||||||||||||
| Gene symbol | DMD | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000357033.9 | |||||||||||||
| Genbank transcript ID | NM_004006 (exact from MANE), NM_000109 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | intron | |||||||||||||
| DNA changes | c.7542+13A>G g.1565663A>G | |||||||||||||
| AA changes | N/A | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | N/A | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | 13 | |||||||||||||
| Kozak consensus sequence altered? | N/A | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | N/A | |||||||||||||
| Chromosome | 23 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | AGCAGAAGGTATGAGAAAAAATGATAAAAGTTGGCAGAAGT | |||||||||||||
| Altered gDNA sequence snippet | AGCAGAAGGTATGAGAAAAAGTGATAAAAGTTGGCAGAAGT | |||||||||||||
| Original cDNA sequence snippet | N/A | |||||||||||||
| Altered cDNA sequence snippet | N/A | |||||||||||||
| Wildtype AA sequence | MLWWEEVEDC YEREDVQKKT FTKWVNAQFS KFGKQHIENL FSDLQDGRRL LDLLEGLTGQ KLPKEKGSTR VHALNNVNKA LRVLQNNNVD LVNIGSTDIV DGNHKLTLGL IWNIILHWQV KNVMKNIMAG LQQTNSEKIL LSWVRQSTRN YPQVNVINFT TSWSDGLALN ALIHSHRPDL FDWNSVVCQQ SATQRLEHAF NIARYQLGIE KLLDPEDVDT TYPDKKSILM YITSLFQVLP QQVSIEAIQE VEMLPRPPKV TKEEHFQLHH QMHYSQQITV SLAQGYERTS SPKPRFKSYA YTQAAYVTTS DPTRSPFPSQ HLEAPEDKSF GSSLMESEVN LDRYQTALEE VLSWLLSAED TLQAQGEISN DVEVVKDQFH THEGYMMDLT AHQGRVGNIL QLGSKLIGTG KLSEDEETEV QEQMNLLNSR WECLRVASME KQSNLHRVLM DLQNQKLKEL NDWLTKTEER TRKMEEEPLG PDLEDLKRQV QQHKVLQEDL EQEQVRVNSL THMVVVVDES SGDHATAALE EQLKVLGDRW ANICRWTEDR WVLLQDILLK WQRLTEEQCL FSAWLSEKED AVNKIHTTGF KDQNEMLSSL QKLAVLKADL EKKKQSMGKL YSLKQDLLST LKNKSVTQKT EAWLDNFARC WDNLVQKLEK STAQISQAVT TTQPSLTQTT VMETVTTVTT REQILVKHAQ EELPPPPPQK KRQITVDSEI RKRLDVDITE LHSWITRSEA VLQSPEFAIF RKEGNFSDLK EKVNAIEREK AEKFRKLQDA SRSAQALVEQ MVNEGVNADS IKQASEQLNS RWIEFCQLLS ERLNWLEYQN NIIAFYNQLQ QLEQMTTTAE NWLKIQPTTP SEPTAIKSQL KICKDEVNRL SDLQPQIERL KIQSIALKEK GQGPMFLDAD FVAFTNHFKQ VFSDVQAREK ELQTIFDTLP PMRYQETMSA IRTWVQQSET KLSIPQLSVT DYEIMEQRLG ELQALQSSLQ EQQSGLYYLS TTVKEMSKKA PSEISRKYQS EFEEIEGRWK KLSSQLVEHC QKLEEQMNKL RKIQNHIQTL KKWMAEVDVF LKEEWPALGD SEILKKQLKQ CRLLVSDIQT IQPSLNSVNE GGQKIKNEAE PEFASRLETE LKELNTQWDH MCQQVYARKE ALKGGLEKTV SLQKDLSEMH EWMTQAEEEY LERDFEYKTP DELQKAVEEM KRAKEEAQQK EAKVKLLTES VNSVIAQAPP VAQEALKKEL ETLTTNYQWL CTRLNGKCKT LEEVWACWHE LLSYLEKANK WLNEVEFKLK TTENIPGGAE EISEVLDSLE NLMRHSEDNP NQIRILAQTL TDGGVMDELI NEELETFNSR WRELHEEAVR RQKLLEQSIQ SAQETEKSLH LIQESLTFID KQLAAYIADK VDAAQMPQEA QKIQSDLTSH EISLEEMKKH NQGKEAAQRV LSQIDVAQKK LQDVSMKFRL FQKPANFEQR LQESKMILDE VKMHLPALET KSVEQEVVQS QLNHCVNLYK SLSEVKSEVE MVIKTGRQIV QKKQTENPKE LDERVTALKL HYNELGAKVT ERKQQLEKCL KLSRKMRKEM NVLTEWLAAT DMELTKRSAV EGMPSNLDSE VAWGKATQKE IEKQKVHLKS ITEVGEALKT VLGKKETLVE DKLSLLNSNW IAVTSRAEEW LNLLLEYQKH METFDQNVDH ITKWIIQADT LLDESEKKKP QQKEDVLKRL KAELNDIRPK VDSTRDQAAN LMANRGDHCR KLVEPQISEL NHRFAAISHR IKTGKASIPL KELEQFNSDI QKLLEPLEAE IQQGVNLKEE DFNKDMNEDN EGTVKELLQR GDNLQQRITD ERKREEIKIK QQLLQTKHNA LKDLRSQRRK KALEISHQWY QYKRQADDLL KCLDDIEKKL ASLPEPRDER KIKEIDRELQ KKKEELNAVR RQAEGLSEDG AAMAVEPTQI QLSKRWREIE SKFAQFRRLN FAQIHTVREE TMMVMTEDMP LEISYVPSTY LTEITHVSQA LLEVEQLLNA PDLCAKDFED LFKQEESLKN IKDSLQQSSG RIDIIHSKKT AALQSATPVE RVKLQEALSQ LDFQWEKVNK MYKDRQGRFD RSVEKWRRFH YDIKIFNQWL TEAEQFLRKT QIPENWEHAK YKWYLKELQD GIGQRQTVVR TLNATGEEII QQSSKTDASI LQEKLGSLNL RWQEVCKQLS DRKKRLEEQK NILSEFQRDL NEFVLWLEEA DNIASIPLEP GKEQQLKEKL EQVKLLVEEL PLRQGILKQL NETGGPVLVS APISPEEQDK LENKLKQTNL QWIKVSRALP EKQGEIEAQI KDLGQLEKKL EDLEEQLNHL LLWLSPIRNQ LEIYNQPNQE GPFDVKETEI AVQAKQPDVE EILSKGQHLY KEKPATQPVK RKLEDLSSEW KAVNRLLQEL RAKQPDLAPG LTTIGASPTQ TVTLVTQPVV TKETAISKLE MPSSLMLEVP ALADFNRAWT ELTDWLSLLD QVIKSQRVMV GDLEDINEMI IKQKATMQDL EQRRPQLEEL ITAAQNLKNK TSNQEARTII TDRIERIQNQ WDEVQEHLQN RRQQLNEMLK DSTQWLEAKE EAEQVLGQAR AKLESWKEGP YTVDAIQKKI TETKQLAKDL RQWQTNVDVA NDLALKLLRD YSADDTRKVH MITENINASW RSIHKRVSER EAALEETHRL LQQFPLDLEK FLAWLTEAET TANVLQDATR KERLLEDSKG VKELMKQWQD LQGEIEAHTD VYHNLDENSQ KILRSLEGSD DAVLLQRRLD NMNFKWSELR KKSLNIRSHL EASSDQWKRL HLSLQELLVW LQLKDDELSR QAPIGGDFPA VQKQNDVHRA FKRELKTKEP VIMSTLETVR IFLTEQPLEG LEKLYQEPRE LPPEERAQNV TRLLRKQAEE VNTEWEKLNL HSADWQRKID ETLERLRELQ EATDELDLKL RQAEVIKGSW QPVGDLLIDS LQDHLEKVKA LRGEIAPLKE NVSHVNDLAR QLTTLGIQLS PYNLSTLEDL NTRWKLLQVA VEDRVRQLHE AHRDFGPASQ HFLSTSVQGP WERAISPNKV PYYINHETQT TCWDHPKMTE LYQSLADLNN VRFSAYRTAM KLRRLQKALC LDLLSLSAAC DALDQHNLKQ NDQPMDILQI INCLTTIYDR LEQEHNNLVN VPLCVDMCLN WLLNVYDTGR TGRIRVLSFK TGIISLCKAH LEDKYRYLFK QVASSTGFCD QRRLGLLLHD SIQIPRQLGE VASFGGSNIE PSVRSCFQFA NNKPEIEAAL FLDWMRLEPQ SMVWLPVLHR VAAAETAKHQ AKCNICKECP IIGFRYRSLK HFNYDICQSC FFSGRVAKGH KMHYPMVEYC TPTTSGEDVR DFAKVLKNKF RTKRYFAKHP RMGYLPVQTV LEGDNMETPV TLINFWPVDS APASSPQLSH DDTHSRIEHY ASRLAEMENS NGSYLNDSIS PNESIDDEHL LIQHYCQSLN QDSPLSQPRS PAQILISLES EERGELERIL ADLEEENRNL QAEYDRLKQQ HEHKGLSPLP SPPEMMPTSP QSPRDAELIA EAKLLRQHKG RLEARMQILE DHNKQLESQL HRLRQLLEQP QAEAKVNGTT VSSPSTSLQR SDSSQPMLLR VVGSQTSDSM GEEDLLSPPQ DTSTGLEEVM EQLNNSFPSS RGRNTPGKPM REDTM* | |||||||||||||
| Mutated AA sequence | ||||||||||||||
| Position of stopcodon in wt / mu CDS | N/A | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | N/A | |||||||||||||
| Position of stopcodon in wt / mu cDNA | N/A | |||||||||||||
| Position of start ATG in wt / mu cDNA | 238 / 238 | |||||||||||||
| Last intron/exon boundary | 11283 | |||||||||||||
| Theoretical NMD boundary in CDS | 10995 | |||||||||||||
| Length of CDS | 11058 | |||||||||||||
| Coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position | N/A | |||||||||||||
| gDNA position | 1565663 | |||||||||||||
| Chromosomal position | 31773947 | |||||||||||||
| Speed | 0.04 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
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | ChrX:31773947T>C (GRCh38) | |||||||||||||
| Gene symbol | DMD | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000359836.5 | |||||||||||||
| Genbank transcript ID | NM_004022 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | intron | |||||||||||||
| DNA changes | c.162+13A>G g.1565663A>G | |||||||||||||
| AA changes | N/A | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | N/A | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | 13 | |||||||||||||
| Kozak consensus sequence altered? | N/A | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | N/A | |||||||||||||
| Chromosome | 23 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | AGCAGAAGGTATGAGAAAAAATGATAAAAGTTGGCAGAAGT | |||||||||||||
| Altered gDNA sequence snippet | AGCAGAAGGTATGAGAAAAAGTGATAAAAGTTGGCAGAAGT | |||||||||||||
| Original cDNA sequence snippet | N/A | |||||||||||||
| Altered cDNA sequence snippet | N/A | |||||||||||||
| Wildtype AA sequence | MPSSLMLEVP ALADFNRAWT ELTDWLSLLD QVIKSQRVMV GDLEDINEMI IKQKATMQDL EQRRPQLEEL ITAAQNLKNK TSNQEARTII TDRIERIQNQ WDEVQEHLQN RRQQLNEMLK DSTQWLEAKE EAEQVLGQAR AKLESWKEGP YTVDAIQKKI TETKQLAKDL RQWQTNVDVA NDLALKLLRD YSADDTRKVH MITENINASW RSIHKRVSER EAALEETHRL LQQFPLDLEK FLAWLTEAET TANVLQDATR KERLLEDSKG VKELMKQWQD LQGEIEAHTD VYHNLDENSQ KILRSLEGSD DAVLLQRRLD NMNFKWSELR KKSLNIRSHL EASSDQWKRL HLSLQELLVW LQLKDDELSR QAPIGGDFPA VQKQNDVHRA FKRELKTKEP VIMSTLETVR IFLTEQPLEG LEKLYQEPRE LPPEERAQNV TRLLRKQAEE VNTEWEKLNL HSADWQRKID ETLERLRELQ EATDELDLKL RQAEVIKGSW QPVGDLLIDS LQDHLEKVKA LRGEIAPLKE NVSHVNDLAR QLTTLGIQLS PYNLSTLEDL NTRWKLLQVA VEDRVRQLHE AHRDFGPASQ HFLSTSVQGP WERAISPNKV PYYINHETQT TCWDHPKMTE LYQSLADLNN VRFSAYRTAM KLRRLQKALC LDLLSLSAAC DALDQHNLKQ NDQPMDILQI INCLTTIYDR LEQEHNNLVN VPLCVDMCLN WLLNVYDTGR TGRIRVLSFK TGIISLCKAH LEDKYRYLFK QVASSTGFCD QRRLGLLLHD SIQIPRQLGE VASFGGSNIE PSVRSCFQFA NNKPEIEAAL FLDWMRLEPQ SMVWLPVLHR VAAAETAKHQ AKCNICKECP IIGFRYRSLK HFNYDICQSC FFSGRVAKGH KMHYPMVEYC TPTTSGEDVR DFAKVLKNKF RTKRYFAKHP RMGYLPVQTV LEGDNMETPA SSPQLSHDDT HSRIEHYASR LAEMENSNGS YLNDSISPNE SIDDEHLLIQ HYCQSLNQDS PLSQPRSPAQ ILISLESEER GELERILADL EEENRNLQAE YDRLKQQHEH KGLSPLPSPP EMMPTSPQSP RDAELIAEAK LLRQHKGRLE ARMQILEDHN KQLESQLHRL RQLLEQPQAE AKVNGTTVSS PSTSLQRSDS SQPMLLRVVG SQTSDSMGEE DLLSPPQDTS TGLEEVMEQL NNSFPSSRGH NVGSLFHMAD DLGRAMESLV SVMTDEEGAE * | |||||||||||||
| Mutated AA sequence | ||||||||||||||
| Position of stopcodon in wt / mu CDS | N/A | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | N/A | |||||||||||||
| Position of stopcodon in wt / mu cDNA | N/A | |||||||||||||
| Position of start ATG in wt / mu cDNA | 1042 / 1042 | |||||||||||||
| Last intron/exon boundary | 4636 | |||||||||||||
| Theoretical NMD boundary in CDS | 3544 | |||||||||||||
| Length of CDS | 3693 | |||||||||||||
| Coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position | N/A | |||||||||||||
| gDNA position | 1565663 | |||||||||||||
| Chromosomal position | 31773947 | |||||||||||||
| Speed | 0.03 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
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | ChrX:31773947T>C (GRCh38) | |||||||||||||
| Gene symbol | DMD | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000378707.7 | |||||||||||||
| Genbank transcript ID | NM_004013 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | intron | |||||||||||||
| DNA changes | c.162+13A>G g.1565663A>G | |||||||||||||
| AA changes | N/A | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | N/A | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | 13 | |||||||||||||
| Kozak consensus sequence altered? | N/A | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | N/A | |||||||||||||
| Chromosome | 23 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | AGCAGAAGGTATGAGAAAAAATGATAAAAGTTGGCAGAAGT | |||||||||||||
| Altered gDNA sequence snippet | AGCAGAAGGTATGAGAAAAAGTGATAAAAGTTGGCAGAAGT | |||||||||||||
| Original cDNA sequence snippet | N/A | |||||||||||||
| Altered cDNA sequence snippet | N/A | |||||||||||||
| Wildtype AA sequence | MPSSLMLEVP ALADFNRAWT ELTDWLSLLD QVIKSQRVMV GDLEDINEMI IKQKATMQDL EQRRPQLEEL ITAAQNLKNK TSNQEARTII TDRIERIQNQ WDEVQEHLQN RRQQLNEMLK DSTQWLEAKE EAEQVLGQAR AKLESWKEGP YTVDAIQKKI TETKQLAKDL RQWQTNVDVA NDLALKLLRD YSADDTRKVH MITENINASW RSIHKRVSER EAALEETHRL LQQFPLDLEK FLAWLTEAET TANVLQDATR KERLLEDSKG VKELMKQWQD LQGEIEAHTD VYHNLDENSQ KILRSLEGSD DAVLLQRRLD NMNFKWSELR KKSLNIRSHL EASSDQWKRL HLSLQELLVW LQLKDDELSR QAPIGGDFPA VQKQNDVHRA FKRELKTKEP VIMSTLETVR IFLTEQPLEG LEKLYQEPRE LPPEERAQNV TRLLRKQAEE VNTEWEKLNL HSADWQRKID ETLERLRELQ EATDELDLKL RQAEVIKGSW QPVGDLLIDS LQDHLEKVKA LRGEIAPLKE NVSHVNDLAR QLTTLGIQLS PYNLSTLEDL NTRWKLLQVA VEDRVRQLHE AHRDFGPASQ HFLSTSVQGP WERAISPNKV PYYINHETQT TCWDHPKMTE LYQSLADLNN VRFSAYRTAM KLRRLQKALC LDLLSLSAAC DALDQHNLKQ NDQPMDILQI INCLTTIYDR LEQEHNNLVN VPLCVDMCLN WLLNVYDTGR TGRIRVLSFK TGIISLCKAH LEDKYRYLFK QVASSTGFCD QRRLGLLLHD SIQIPRQLGE VASFGGSNIE PSVRSCFQFA NNKPEIEAAL FLDWMRLEPQ SMVWLPVLHR VAAAETAKHQ AKCNICKECP IIGFRYRSLK HFNYDICQSC FFSGRVAKGH KMHYPMVEYC TPTTSGEDVR DFAKVLKNKF RTKRYFAKHP RMGYLPVQTV LEGDNMETPV TLINFWPVDS APASSPQLSH DDTHSRIEHY ASRLAEMENS NGSYLNDSIS PNESIDDEHL LIQHYCQSLN QDSPLSQPRS PAQILISLES EERGELERIL ADLEEENRNL QAEYDRLKQQ HEHKGLSPLP SPPEMMPTSP QSPRDAELIA EAKLLRQHKG RLEARMQILE DHNKQLESQL HRLRQLLEQP QAEAKVNGTT VSSPSTSLQR SDSSQPMLLR VVGSQTSDSM GEEDLLSPPQ DTSTGLEEVM EQLNNSFPSS RGRNTPGKPM REDTM* | |||||||||||||
| Mutated AA sequence | ||||||||||||||
| Position of stopcodon in wt / mu CDS | N/A | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | N/A | |||||||||||||
| Position of stopcodon in wt / mu cDNA | N/A | |||||||||||||
| Position of start ATG in wt / mu cDNA | 1042 / 1042 | |||||||||||||
| Last intron/exon boundary | 4707 | |||||||||||||
| Theoretical NMD boundary in CDS | 3615 | |||||||||||||
| Length of CDS | 3678 | |||||||||||||
| Coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position | N/A | |||||||||||||
| gDNA position | 1565663 | |||||||||||||
| Chromosomal position | 31773947 | |||||||||||||
| Speed | 0.03 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
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | ChrX:31773947T>C (GRCh38) | |||||||||||||
| Gene symbol | DMD | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000541735.5 | |||||||||||||
| Genbank transcript ID | NM_004020 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | intron | |||||||||||||
| DNA changes | c.162+13A>G g.1565663A>G | |||||||||||||
| AA changes | N/A | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | N/A | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | 13 | |||||||||||||
| Kozak consensus sequence altered? | N/A | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | N/A | |||||||||||||
| Chromosome | 23 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | AGCAGAAGGTATGAGAAAAAATGATAAAAGTTGGCAGAAGT | |||||||||||||
| Altered gDNA sequence snippet | AGCAGAAGGTATGAGAAAAAGTGATAAAAGTTGGCAGAAGT | |||||||||||||
| Original cDNA sequence snippet | N/A | |||||||||||||
| Altered cDNA sequence snippet | N/A | |||||||||||||
| Wildtype AA sequence | MPSSLMLEVP ALADFNRAWT ELTDWLSLLD QVIKSQRVMV GDLEDINEMI IKQKATMQDL EQRRPQLEEL ITAAQNLKNK TSNQEARTII TDRIERIQNQ WDEVQEHLQN RRQQLNEMLK DSTQWLEAKE EAEQVLGQAR AKLESWKEGP YTVDAIQKKI TETKQLAKDL RQWQTNVDVA NDLALKLLRD YSADDTRKVH MITENINASW RSIHKRVSER EAALEETHRL LQQFPLDLEK FLAWLTEAET TANVLQDATR KERLLEDSKG VKELMKQWQD LQGEIEAHTD VYHNLDENSQ KILRSLEGSD DAVLLQRRLD NMNFKWSELR KKSLNIRSHL EASSDQWKRL HLSLQELLVW LQLKDDELSR QAPIGGDFPA VQKQNDVHRA FKRELKTKEP VIMSTLETVR IFLTEQPLEG LEKLYQEPRE LPPEERAQNV TRLLRKQAEE VNTEWEKLNL HSADWQRKID ETLERLRELQ EATDELDLKL RQAEVIKGSW QPVGDLLIDS LQDHLEKVKA LRGEIAPLKE NVSHVNDLAR QLTTLGIQLS PYNLSTLEDL NTRWKLLQVA VEDRVRQLHE AHRDFGPASQ HFLSTSVQGP WERAISPNKV PYYINHETQT TCWDHPKMTE LYQSLADLNN VRFSAYRTAM KLRRLQKALC LDLLSLSAAC DALDQHNLKQ NDQPMDILQI INCLTTIYDR LEQEHNNLVN VPLCVDMCLN WLLNVYDTGR TGRIRVLSFK TGIISLCKAH LEDKYRYLFK QVASSTGFCD QRRLGLLLHD SIQIPRQLGE VASFGGSNIE PSVRSCFQFA NNKPEIEAAL FLDWMRLEPQ SMVWLPVLHR VAAAETAKHQ AKCNICKECP IIGFRYRSLK HFNYDICQSC FFSGRVAKGH KMHYPMVEYC TPTTSGEDVR DFAKVLKNKF RTKRYFAKHP RMGYLPVQTV LEGDNMETNL QAEYDRLKQQ HEHKGLSPLP SPPEMMPTSP QSPRDAELIA EAKLLRQHKG RLEARMQILE DHNKQLESQL HRLRQLLEQP QAEAKVNGTT VSSPSTSLQR SDSSQPMLLR VVGSQTSDSM GEEDLLSPPQ DTSTGLEEVM EQLNNSFPSS RGRNTPGKPM REDTM* | |||||||||||||
| Mutated AA sequence | ||||||||||||||
| Position of stopcodon in wt / mu CDS | N/A | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | N/A | |||||||||||||
| Position of stopcodon in wt / mu cDNA | N/A | |||||||||||||
| Position of start ATG in wt / mu cDNA | 1042 / 1042 | |||||||||||||
| Last intron/exon boundary | 4377 | |||||||||||||
| Theoretical NMD boundary in CDS | 3285 | |||||||||||||
| Length of CDS | 3348 | |||||||||||||
| Coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position | N/A | |||||||||||||
| gDNA position | 1565663 | |||||||||||||
| Chromosomal position | 31773947 | |||||||||||||
| Speed | 0.03 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
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | ChrX:31773947T>C (GRCh38) | |||||||||||||
| Gene symbol | DMD | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000378677.6 | |||||||||||||
| Genbank transcript ID | NM_004009 (by similarity), NM_004010 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | intron | |||||||||||||
| DNA changes | c.7530+13A>G g.1565663A>G | |||||||||||||
| AA changes | N/A | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | N/A | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | 13 | |||||||||||||
| Kozak consensus sequence altered? | N/A | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | N/A | |||||||||||||
| Chromosome | 23 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | AGCAGAAGGTATGAGAAAAAATGATAAAAGTTGGCAGAAGT | |||||||||||||
| Altered gDNA sequence snippet | AGCAGAAGGTATGAGAAAAAGTGATAAAAGTTGGCAGAAGT | |||||||||||||
| Original cDNA sequence snippet | N/A | |||||||||||||
| Altered cDNA sequence snippet | N/A | |||||||||||||
| Wildtype AA sequence | MSEVSSDERE DVQKKTFTKW VNAQFSKFGK QHIENLFSDL QDGRRLLDLL EGLTGQKLPK EKGSTRVHAL NNVNKALRVL QNNNVDLVNI GSTDIVDGNH KLTLGLIWNI ILHWQVKNVM KNIMAGLQQT NSEKILLSWV RQSTRNYPQV NVINFTTSWS DGLALNALIH SHRPDLFDWN SVVCQQSATQ RLEHAFNIAR YQLGIEKLLD PEDVDTTYPD KKSILMYITS LFQVLPQQVS IEAIQEVEML PRPPKVTKEE HFQLHHQMHY SQQITVSLAQ GYERTSSPKP RFKSYAYTQA AYVTTSDPTR SPFPSQHLEA PEDKSFGSSL MESEVNLDRY QTALEEVLSW LLSAEDTLQA QGEISNDVEV VKDQFHTHEG YMMDLTAHQG RVGNILQLGS KLIGTGKLSE DEETEVQEQM NLLNSRWECL RVASMEKQSN LHRVLMDLQN QKLKELNDWL TKTEERTRKM EEEPLGPDLE DLKRQVQQHK VLQEDLEQEQ VRVNSLTHMV VVVDESSGDH ATAALEEQLK VLGDRWANIC RWTEDRWVLL QDILLKWQRL TEEQCLFSAW LSEKEDAVNK IHTTGFKDQN EMLSSLQKLA VLKADLEKKK QSMGKLYSLK QDLLSTLKNK SVTQKTEAWL DNFARCWDNL VQKLEKSTAQ ISQAVTTTQP SLTQTTVMET VTTVTTREQI LVKHAQEELP PPPPQKKRQI TVDSEIRKRL DVDITELHSW ITRSEAVLQS PEFAIFRKEG NFSDLKEKVN AIEREKAEKF RKLQDASRSA QALVEQMVNE GVNADSIKQA SEQLNSRWIE FCQLLSERLN WLEYQNNIIA FYNQLQQLEQ MTTTAENWLK IQPTTPSEPT AIKSQLKICK DEVNRLSDLQ PQIERLKIQS IALKEKGQGP MFLDADFVAF TNHFKQVFSD VQAREKELQT IFDTLPPMRY QETMSAIRTW VQQSETKLSI PQLSVTDYEI MEQRLGELQA LQSSLQEQQS GLYYLSTTVK EMSKKAPSEI SRKYQSEFEE IEGRWKKLSS QLVEHCQKLE EQMNKLRKIQ NHIQTLKKWM AEVDVFLKEE WPALGDSEIL KKQLKQCRLL VSDIQTIQPS LNSVNEGGQK IKNEAEPEFA SRLETELKEL NTQWDHMCQQ VYARKEALKG GLEKTVSLQK DLSEMHEWMT QAEEEYLERD FEYKTPDELQ KAVEEMKRAK EEAQQKEAKV KLLTESVNSV IAQAPPVAQE ALKKELETLT TNYQWLCTRL NGKCKTLEEV WACWHELLSY LEKANKWLNE VEFKLKTTEN IPGGAEEISE VLDSLENLMR HSEDNPNQIR ILAQTLTDGG VMDELINEEL ETFNSRWREL HEEAVRRQKL LEQSIQSAQE TEKSLHLIQE SLTFIDKQLA AYIADKVDAA QMPQEAQKIQ SDLTSHEISL EEMKKHNQGK EAAQRVLSQI DVAQKKLQDV SMKFRLFQKP ANFEQRLQES KMILDEVKMH LPALETKSVE QEVVQSQLNH CVNLYKSLSE VKSEVEMVIK TGRQIVQKKQ TENPKELDER VTALKLHYNE LGAKVTERKQ QLEKCLKLSR KMRKEMNVLT EWLAATDMEL TKRSAVEGMP SNLDSEVAWG KATQKEIEKQ KVHLKSITEV GEALKTVLGK KETLVEDKLS LLNSNWIAVT SRAEEWLNLL LEYQKHMETF DQNVDHITKW IIQADTLLDE SEKKKPQQKE DVLKRLKAEL NDIRPKVDST RDQAANLMAN RGDHCRKLVE PQISELNHRF AAISHRIKTG KASIPLKELE QFNSDIQKLL EPLEAEIQQG VNLKEEDFNK DMNEDNEGTV KELLQRGDNL QQRITDERKR EEIKIKQQLL QTKHNALKDL RSQRRKKALE ISHQWYQYKR QADDLLKCLD DIEKKLASLP EPRDERKIKE IDRELQKKKE ELNAVRRQAE GLSEDGAAMA VEPTQIQLSK RWREIESKFA QFRRLNFAQI HTVREETMMV MTEDMPLEIS YVPSTYLTEI THVSQALLEV EQLLNAPDLC AKDFEDLFKQ EESLKNIKDS LQQSSGRIDI IHSKKTAALQ SATPVERVKL QEALSQLDFQ WEKVNKMYKD RQGRFDRSVE KWRRFHYDIK IFNQWLTEAE QFLRKTQIPE NWEHAKYKWY LKELQDGIGQ RQTVVRTLNA TGEEIIQQSS KTDASILQEK LGSLNLRWQE VCKQLSDRKK RLEEQKNILS EFQRDLNEFV LWLEEADNIA SIPLEPGKEQ QLKEKLEQVK LLVEELPLRQ GILKQLNETG GPVLVSAPIS PEEQDKLENK LKQTNLQWIK VSRALPEKQG EIEAQIKDLG QLEKKLEDLE EQLNHLLLWL SPIRNQLEIY NQPNQEGPFD VKETEIAVQA KQPDVEEILS KGQHLYKEKP ATQPVKRKLE DLSSEWKAVN RLLQELRAKQ PDLAPGLTTI GASPTQTVTL VTQPVVTKET AISKLEMPSS LMLEVPALAD FNRAWTELTD WLSLLDQVIK SQRVMVGDLE DINEMIIKQK ATMQDLEQRR PQLEELITAA QNLKNKTSNQ EARTIITDRI ERIQNQWDEV QEHLQNRRQQ LNEMLKDSTQ WLEAKEEAEQ VLGQARAKLE SWKEGPYTVD AIQKKITETK QLAKDLRQWQ TNVDVANDLA LKLLRDYSAD DTRKVHMITE NINASWRSIH KRVSEREAAL EETHRLLQQF PLDLEKFLAW LTEAETTANV LQDATRKERL LEDSKGVKEL MKQWQDLQGE IEAHTDVYHN LDENSQKILR SLEGSDDAVL LQRRLDNMNF KWSELRKKSL NIRSHLEASS DQWKRLHLSL QELLVWLQLK DDELSRQAPI GGDFPAVQKQ NDVHRAFKRE LKTKEPVIMS TLETVRIFLT EQPLEGLEKL YQEPRELPPE ERAQNVTRLL RKQAEEVNTE WEKLNLHSAD WQRKIDETLE RLRELQEATD ELDLKLRQAE VIKGSWQPVG DLLIDSLQDH LEKVKALRGE IAPLKENVSH VNDLARQLTT LGIQLSPYNL STLEDLNTRW KLLQVAVEDR VRQLHEAHRD FGPASQHFLS TSVQGPWERA ISPNKVPYYI NHETQTTCWD HPKMTELYQS LADLNNVRFS AYRTAMKLRR LQKALCLDLL SLSAACDALD QHNLKQNDQP MDILQIINCL TTIYDRLEQE HNNLVNVPLC VDMCLNWLLN VYDTGRTGRI RVLSFKTGII SLCKAHLEDK YRYLFKQVAS STGFCDQRRL GLLLHDSIQI PRQLGEVASF GGSNIEPSVR SCFQFANNKP EIEAALFLDW MRLEPQSMVW LPVLHRVAAA ETAKHQAKCN ICKECPIIGF RYRSLKHFNY DICQSCFFSG RVAKGHKMHY PMVEYCTPTT SGEDVRDFAK VLKNKFRTKR YFAKHPRMGY LPVQTVLEGD NMETPVTLIN FWPVDSAPAS SPQLSHDDTH SRIEHYASRL AEMENSNGSY LNDSISPNES IDDEHLLIQH YCQSLNQDSP LSQPRSPAQI LISLESEERG ELERILADLE EENRNLQAEY DRLKQQHEHK GLSPLPSPPE MMPTSPQSPR DAELIAEAKL LRQHKGRLEA RMQILEDHNK QLESQLHRLR QLLEQPQAEA KVNGTTVSSP STSLQRSDSS QPMLLRVVGS QTSDSMGEED LLSPPQDTST GLEEVMEQLN NSFPSSRGRN TPGKPMREDT M* | |||||||||||||
| Mutated AA sequence | ||||||||||||||
| Position of stopcodon in wt / mu CDS | N/A | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | N/A | |||||||||||||
| Position of stopcodon in wt / mu cDNA | N/A | |||||||||||||
| Position of start ATG in wt / mu cDNA | 196 / 196 | |||||||||||||
| Last intron/exon boundary | 11229 | |||||||||||||
| Theoretical NMD boundary in CDS | 10983 | |||||||||||||
| Length of CDS | 11046 | |||||||||||||
| Coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position | N/A | |||||||||||||
| gDNA position | 1565663 | |||||||||||||
| Chromosomal position | 31773947 | |||||||||||||
| Speed | 0.03 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
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | ChrX:31773947T>C (GRCh38) | |||||||||||||
| Gene symbol | DMD | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000684130.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | intron | |||||||||||||
| DNA changes | c.162+13A>G g.1565663A>G | |||||||||||||
| AA changes | N/A | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | N/A | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | 13 | |||||||||||||
| Kozak consensus sequence altered? | N/A | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | N/A | |||||||||||||
| Chromosome | 23 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | AGCAGAAGGTATGAGAAAAAATGATAAAAGTTGGCAGAAGT | |||||||||||||
| Altered gDNA sequence snippet | AGCAGAAGGTATGAGAAAAAGTGATAAAAGTTGGCAGAAGT | |||||||||||||
| Original cDNA sequence snippet | N/A | |||||||||||||
| Altered cDNA sequence snippet | N/A | |||||||||||||
| Wildtype AA sequence | MPSSLMLEVP ALADFNRAWT ELTDWLSLLD QVIKSQRVMV GDLEDINEMI IKQKATMQDL EQRRPQLEEL ITAAQNLKNK TSNQEARTII TDRIERIQNQ WDEVQEHLQN RRQQLNEMLK DSTQWLEAKE EAEQVLGQAR AKLESWKEGP YTVDAIQKKI TETKQLAKDL RQWQTNVDVA NDLALKLLRD YSADDTRKVH MITENINASW RSIHKRVSER EAALEETHRL LQQFPLDLEK FLAWLTEAET TANVLQDATR KERLLEDSKG VKELMKQWQD LQGEIEAHTD VYHNLDENSQ KILRSLEGSD DAVLLQRRLD NMNFKWSELR KKSLNIRSHL EASSDQWKRL HLSLQELLVW LQLKDDELSR QAPIGGDFPA VQKQNDVHRA FKRELKTKEP VIMSTLETVR IFLTEQPLEG LEKLYQEPRE LPPEERAQNV TRLLRKQAEE VNTEWEKLNL HSADWQRKID ETLERLRELQ EATDELDLKL RQAEVIKGSW QPVGDLLIDS LQDHLEKVKA LRGEIAPLKE NVSHVNDLAR QLTTLGIQLS PYNLSTLEDL NTRWKLLQVA VEDRVRQLHE AHRDFGPASQ HFLSTSVQGP WERAISPNKV PYYINHETQT TCWDHPKMTE LYQSLADLNN VRFSAYRTAM KLRRLQKALC LDLLSLSAAC DALDQHNLKQ NDQPMDILQI INCLTTIYDR LEQEHNNLVN VPLCVDMCLN WLLNVYDTGR TGRIRVLSFK TGIISLCKAH LEDKYRYLFK QVASSTGFCD QRRLGLLLHD SIQIPRQLGE VASFGGSNIE PSVRSCFQFA NNKPEIEAAL FLDWMRLEPQ SMVWLPVLHR VAAAETAKHQ AKCNICKECP IIGFRYRSLK HFNYDICQSC FFSGRVAKGH KMHYPMVEYC TPTTSGEDVR DFAKVLKNKF RTKRYFAKHP RMGYLPVQTV LEGDNMETPA SSPQLSHDDT HSRIEHYASR LAEMENSNGS YLNDSISPNE SIDDEHLLIQ HYCQSLNQDS PLSQPRSPAQ ILISLESEER GELERILADL EEENRNLQAE YDRLKQQHEH KGLSPLPSPP EMMPTSPQSP RDAELIAEAK LLRQHKGRLE ARMQILEDHN KQLESQLHRL RQLLEQPQAE AKVNGTTVSS PSTSLQRSDS SQPMLLRVVG SQTSDSMGEE DLLSPPQDTS TGLEEVMEQL NNSFPSSRGR NTPGKPMRED TM* | |||||||||||||
| Mutated AA sequence | ||||||||||||||
| Position of stopcodon in wt / mu CDS | N/A | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | N/A | |||||||||||||
| Position of stopcodon in wt / mu cDNA | N/A | |||||||||||||
| Position of start ATG in wt / mu cDNA | 1042 / 1042 | |||||||||||||
| Last intron/exon boundary | 4668 | |||||||||||||
| Theoretical NMD boundary in CDS | 3576 | |||||||||||||
| Length of CDS | 3639 | |||||||||||||
| Coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position | N/A | |||||||||||||
| gDNA position | 1565663 | |||||||||||||
| Chromosomal position | 31773947 | |||||||||||||
| Speed | 0.03 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
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | ChrX:31773947T>C (GRCh38) | |||||||||||||
| Gene symbol | DMD | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000474231.5 | |||||||||||||
| Genbank transcript ID | NM_004021 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | intron | |||||||||||||
| DNA changes | c.162+13A>G g.1565663A>G | |||||||||||||
| AA changes | N/A | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | N/A | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | 13 | |||||||||||||
| Kozak consensus sequence altered? | N/A | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | N/A | |||||||||||||
| Chromosome | 23 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | AGCAGAAGGTATGAGAAAAAATGATAAAAGTTGGCAGAAGT | |||||||||||||
| Altered gDNA sequence snippet | AGCAGAAGGTATGAGAAAAAGTGATAAAAGTTGGCAGAAGT | |||||||||||||
| Original cDNA sequence snippet | N/A | |||||||||||||
| Altered cDNA sequence snippet | N/A | |||||||||||||
| Wildtype AA sequence | MPSSLMLEVP ALADFNRAWT ELTDWLSLLD QVIKSQRVMV GDLEDINEMI IKQKATMQDL EQRRPQLEEL ITAAQNLKNK TSNQEARTII TDRIERIQNQ WDEVQEHLQN RRQQLNEMLK DSTQWLEAKE EAEQVLGQAR AKLESWKEGP YTVDAIQKKI TETKQLAKDL RQWQTNVDVA NDLALKLLRD YSADDTRKVH MITENINASW RSIHKRVSER EAALEETHRL LQQFPLDLEK FLAWLTEAET TANVLQDATR KERLLEDSKG VKELMKQWQD LQGEIEAHTD VYHNLDENSQ KILRSLEGSD DAVLLQRRLD NMNFKWSELR KKSLNIRSHL EASSDQWKRL HLSLQELLVW LQLKDDELSR QAPIGGDFPA VQKQNDVHRA FKRELKTKEP VIMSTLETVR IFLTEQPLEG LEKLYQEPRE LPPEERAQNV TRLLRKQAEE VNTEWEKLNL HSADWQRKID ETLERLRELQ EATDELDLKL RQAEVIKGSW QPVGDLLIDS LQDHLEKVKA LRGEIAPLKE NVSHVNDLAR QLTTLGIQLS PYNLSTLEDL NTRWKLLQVA VEDRVRQLHE AHRDFGPASQ HFLSTSVQGP WERAISPNKV PYYINHETQT TCWDHPKMTE LYQSLADLNN VRFSAYRTAM KLRRLQKALC LDLLSLSAAC DALDQHNLKQ NDQPMDILQI INCLTTIYDR LEQEHNNLVN VPLCVDMCLN WLLNVYDTGR TGRIRVLSFK TGIISLCKAH LEDKYRYLFK QVASSTGFCD QRRLGLLLHD SIQIPRQLGE VASFGGSNIE PSVRSCFQFA NNKPEIEAAL FLDWMRLEPQ SMVWLPVLHR VAAAETAKHQ AKCNICKECP IIGFRYRSLK HFNYDICQSC FFSGRVAKGH KMHYPMVEYC TPTTSGEDVR DFAKVLKNKF RTKRYFAKHP RMGYLPVQTV LEGDNMETPV TLINFWPVDS APASSPQLSH DDTHSRIEHY ASRLAEMENS NGSYLNDSIS PNESIDDEHL LIQHYCQSLN QDSPLSQPRS PAQILISLES EERGELERIL ADLEEENRNL QAEYDRLKQQ HEHKGLSPLP SPPEMMPTSP QSPRDAELIA EAKLLRQHKG RLEARMQILE DHNKQLESQL HRLRQLLEQP QAEAKVNGTT VSSPSTSLQR SDSSQPMLLR VVGSQTSDSM GEEDLLSPPQ DTSTGLEEVM EQLNNSFPSS RGHNVGSLFH MADDLGRAME SLVSVMTDEE GAE* | |||||||||||||
| Mutated AA sequence | ||||||||||||||
| Position of stopcodon in wt / mu CDS | N/A | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | N/A | |||||||||||||
| Position of stopcodon in wt / mu cDNA | N/A | |||||||||||||
| Position of start ATG in wt / mu cDNA | 1042 / 1042 | |||||||||||||
| Last intron/exon boundary | 4675 | |||||||||||||
| Theoretical NMD boundary in CDS | 3583 | |||||||||||||
| Length of CDS | 3732 | |||||||||||||
| Coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position | N/A | |||||||||||||
| gDNA position | 1565663 | |||||||||||||
| Chromosomal position | 31773947 | |||||||||||||
| Speed | 0.04 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
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | ChrX:31773947T>C (GRCh38) | |||||||||||||
| Gene symbol | DMD | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000682238.1 | |||||||||||||
| Genbank transcript ID | NM_004023 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | intron | |||||||||||||
| DNA changes | c.162+13A>G g.1565663A>G | |||||||||||||
| AA changes | N/A | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | N/A | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | 13 | |||||||||||||
| Kozak consensus sequence altered? | N/A | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | N/A | |||||||||||||
| Chromosome | 23 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | AGCAGAAGGTATGAGAAAAAATGATAAAAGTTGGCAGAAGT | |||||||||||||
| Altered gDNA sequence snippet | AGCAGAAGGTATGAGAAAAAGTGATAAAAGTTGGCAGAAGT | |||||||||||||
| Original cDNA sequence snippet | N/A | |||||||||||||
| Altered cDNA sequence snippet | N/A | |||||||||||||
| Wildtype AA sequence | MPSSLMLEVP ALADFNRAWT ELTDWLSLLD QVIKSQRVMV GDLEDINEMI IKQKATMQDL EQRRPQLEEL ITAAQNLKNK TSNQEARTII TDRIERIQNQ WDEVQEHLQN RRQQLNEMLK DSTQWLEAKE EAEQVLGQAR AKLESWKEGP YTVDAIQKKI TETKQLAKDL RQWQTNVDVA NDLALKLLRD YSADDTRKVH MITENINASW RSIHKRVSER EAALEETHRL LQQFPLDLEK FLAWLTEAET TANVLQDATR KERLLEDSKG VKELMKQWQD LQGEIEAHTD VYHNLDENSQ KILRSLEGSD DAVLLQRRLD NMNFKWSELR KKSLNIRSHL EASSDQWKRL HLSLQELLVW LQLKDDELSR QAPIGGDFPA VQKQNDVHRA FKRELKTKEP VIMSTLETVR IFLTEQPLEG LEKLYQEPRE LPPEERAQNV TRLLRKQAEE VNTEWEKLNL HSADWQRKID ETLERLRELQ EATDELDLKL RQAEVIKGSW QPVGDLLIDS LQDHLEKVKA LRGEIAPLKE NVSHVNDLAR QLTTLGIQLS PYNLSTLEDL NTRWKLLQVA VEDRVRQLHE AHRDFGPASQ HFLSTSVQGP WERAISPNKV PYYINHETQT TCWDHPKMTE LYQSLADLNN VRFSAYRTAM KLRRLQKALC LDLLSLSAAC DALDQHNLKQ NDQPMDILQI INCLTTIYDR LEQEHNNLVN VPLCVDMCLN WLLNVYDTGR TGRIRVLSFK TGIISLCKAH LEDKYRYLFK QVASSTGFCD QRRLGLLLHD SIQIPRQLGE VASFGGSNIE PSVRSCFQFA NNKPEIEAAL FLDWMRLEPQ SMVWLPVLHR VAAAETAKHQ AKCNICKECP IIGFRYRSLK HFNYDICQSC FFSGRVAKGH KMHYPMVEYC TPTTSGEDVR DFAKVLKNKF RTKRYFAKHP RMGYLPVQTV LEGDNMETNL QAEYDRLKQQ HEHKGLSPLP SPPEMMPTSP QSPRDAELIA EAKLLRQHKG RLEARMQILE DHNKQLESQL HRLRQLLEQP QAEAKVNGTT VSSPSTSLQR SDSSQPMLLR VVGSQTSDSM GEEDLLSPPQ DTSTGLEEVM EQLNNSFPSS RGHNVGSLFH MADDLGRAME SLVSVMTDEE GAE* | |||||||||||||
| Mutated AA sequence | ||||||||||||||
| Position of stopcodon in wt / mu CDS | N/A | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | N/A | |||||||||||||
| Position of stopcodon in wt / mu cDNA | N/A | |||||||||||||
| Position of start ATG in wt / mu cDNA | 1042 / 1042 | |||||||||||||
| Last intron/exon boundary | 4345 | |||||||||||||
| Theoretical NMD boundary in CDS | 3253 | |||||||||||||
| Length of CDS | 3402 | |||||||||||||
| Coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position | N/A | |||||||||||||
| gDNA position | 1565663 | |||||||||||||
| Chromosomal position | 31773947 | |||||||||||||
| Speed | 0.03 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
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | ChrX:31773947T>C (GRCh38) | |||||||||||||
| Gene symbol | DMD | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000620040.5 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | intron | |||||||||||||
| DNA changes | c.162+13A>G g.1565663A>G | |||||||||||||
| AA changes | N/A | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | N/A | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | 13 | |||||||||||||
| Kozak consensus sequence altered? | N/A | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | N/A | |||||||||||||
| Chromosome | 23 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | AGCAGAAGGTATGAGAAAAAATGATAAAAGTTGGCAGAAGT | |||||||||||||
| Altered gDNA sequence snippet | AGCAGAAGGTATGAGAAAAAGTGATAAAAGTTGGCAGAAGT | |||||||||||||
| Original cDNA sequence snippet | N/A | |||||||||||||
| Altered cDNA sequence snippet | N/A | |||||||||||||
| Wildtype AA sequence | MPSSLMLEVP ALADFNRAWT ELTDWLSLLD QVIKSQRVMV GDLEDINEMI IKQKATMQDL EQRRPQLEEL ITAAQNLKNK TSNQEARTII TDRIERIQNQ WDEVQEHLQN RRQQLNEMLK DSTQWLEAKE EAEQVLGQAR AKLESWKEGP YTVDAIQKKI TETKQLAKDL RQWQTNVDVA NDLALKLLRD YSADDTRKVH MITENINASW RSIHKRVSER EAALEETHRL LQQFPLDLEK FLAWLTEAET TANVLQDATR KERLLEDSKG VKELMKQWQD LQGEIEAHTD VYHNLDENSQ KILRSLEGSD DAVLLQRRLD NMNFKWSELR KKSLNIRSHL EASSDQWKRL HLSLQELLVW LQLKDDELSR QAPIGGDFPA VQKQNDVHRA FKRELKTKEP VIMSTLETVR IFLTEQPLEG LEKLYQEPRE LPPEERAQNV TRLLRKQAEE VNTEWEKLNL HSADWQRKID ETLERLRELQ EATDELDLKL RQAEVIKGSW QPVGDLLIDS LQDHLEKVKA LRGEIAPLKE NVSHVNDLAR QLTTLGIQLS PYNLSTLEDL NTRWKLLQVA VEDRVRQLHE AHRDFGPASQ HFLSTSVQGP WERAISPNKV PYYINHETQT TCWDHPKMTE LYQSLADLNN VRFSAYRTAM KLRRLQKALC LDLLSLSAAC DALDQHNLKQ NDQPMDILQI INCLTTIYDR LEQEHNNLVN VPLCVDMCLN WLLNVYDTGR TGRIRVLSFK TGIISLCKAH LEDKYRYLFK QVASSTGFCD QRRLGLLLHD SIQIPRQLGE VASFGGSNIE PSVRSCFQFA NNKPEIEAAL FLDWMRLEPQ SMVWLPVLHR VAAAETAKHQ AKCNICKECP IIGFRYRSLK HFNYDICQSC FFSGRVAKGH KMHYPMVEYC TPTTSGEDVR DFAKVLKNKF RTKRYFAKHP RMGYLPVQTV LEGDNMETPA SSPQLSHDDT HSRIEHYASR LAEMENSNGS YLNDSISPNE SIDDEHLLIQ HYCQSLNQDS PLSQPRSPAQ ILISLESEER GELERILADL EEENRNLQAE YDRLKQQHEH KGLSPLPSPP EMMPTSPQSP RDAELIAEAK LLRQHKGRLE ARMQILEDHN KQKKYPWKAN ERGHNVGSLF HMADDLGRAM ESLVSVMTDE EGAE* | |||||||||||||
| Mutated AA sequence | ||||||||||||||
| Position of stopcodon in wt / mu CDS | N/A | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | N/A | |||||||||||||
| Position of stopcodon in wt / mu cDNA | N/A | |||||||||||||
| Position of start ATG in wt / mu cDNA | 1042 / 1042 | |||||||||||||
| Last intron/exon boundary | 4408 | |||||||||||||
| Theoretical NMD boundary in CDS | 3316 | |||||||||||||
| Length of CDS | 3465 | |||||||||||||
| Coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position | N/A | |||||||||||||
| gDNA position | 1565663 | |||||||||||||
| Chromosomal position | 31773947 | |||||||||||||
| Speed | 0.03 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