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Schulte.tubingen_variants.txt
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Schulte.tubingen_variants.txt
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Mutation type Variant class HGMD_ID dbsnp Functional Profile Disease/Phenotype Gene symbol Entrez Gene Id HGVS Base change Location Triplet change Amino Acid change Codon number Genomic coordinates (GRCh37/hg19) Genomic Sequence Context (GRCh37/hg19) Genomic coordinates (GRCh38) MutPred Probability of deleterious mutation SIFT Reference
NA rs368275143 GBA 2629 [NM_001005742.2:c.1611+102T>C] T-C chr1:155204684 (-) CTGTGACTAAAGAGGGCACAGCAGGGCCAG[T/C]GTGAGCTTACAGCGACGTAAGCCCAGGGGC chr1:155234893 (-)
NA rs708606 GBA 2629 [NM_001005742.2:c.1611+92G>A] G-A chr1:155204694 (-) CACACGCTGTCTGTGACTAAAGAGGGCACA[G/A]CAGGGCCAGTGTGAGCTTACAGCGACGTAA chr1:155234903 (-)
Missense DM CM980848 Gaucher disease GBA 2629 [NM_001005742.2:c.1453G>C][NP_001005742.1:p.A485P] G-C GCA-CCA Ala-Pro 485 chr1:155205038 (-) CTGGTTGCCAGTCAGAAGAACGACCTGGAC[G/C]CAGTGGCACTGATGCATCCCGATGGCTCTG chr1:155235247 (-) Germain (1998) Am J Hum Genet 63, 415
NA rs12752133 GBA 2629 [NM_001005742.2:c.1388+108G>A] G-A chr1:155205378 (-) acatcactctacaccacgagggagcaggaa[g/a]gtgttcagggtggaacctcggaagaggcac chr1:155235587 (-)
Missense DM CM940814 Gaucher disease GBA 2629 [NM_001005742.2:c.1255G>A][NP_001005742.1:p.D419N] G-A GAC-AAC Asp-Asn 419 chr1:155205605 (-) AACCTCCTGTACCATGTGGTCGGCTGGACC[G/A]ACTGGAACCTTGCCCTGAACCCCGAAGGAG chr1:155235814 (-) Beutler (1994) Mol Med 1, 82
Missense DM? CM057073 Gaucher disease GBA 2629 [NM_001005742.2:c.1227C>A][NP_001005742.1:p.N409K] C-A AAC-AAA Asn-Lys 409 chr1:155205633 (-) tgtctctttgcctttgtccttaccctagAA[C/A]CTCCTGTACCATGTGGTCGGCTGGACCGAC chr1:155235842 (-) Beutler (2005) Blood Cells Mol Dis 35, 355
Splice rs138498426 GBA 2629 [NM_001005742.2:c.1224G>C][NP_001005742.1:p.T408T] G-C ACG-ACC Thr-Thr 408 chr1:155206036 (-) AGGGATGCAGTACAGCCACAGCATCATCAC[G/C]gtaagccaccccagtctcccttcctgcaaa chr1:155236245 (-)
Missense DM? CM960697 rs75548401 Gaucher disease GBA 2629 [NM_001005742.2:c.1223C>T ][NP_001005742.1:p.T408M] C-T ACG-ATG Thr-Met 408 chr1:155206037 (-) GAGGGATGCAGTACAGCCACAGCATCATCA[C/T]Ggtaagccaccccagtctcccttcctgcaa chr1:155236246 (-) 0.11;TOLERATED Beutler (1996) Proc Assoc Am Physicians 108, 179
Missense DM CM074884 Gaucher disease GBA 2629 [NM_001005742.2:c.1208G>A][NP_001005742.1:p.S403N] G-A AGC-AAC Ser-Asn 403 chr1:155206052 (-) TAGGCTCCTGGGATCGAGGGATGCAGTACA[G/A]CCACAGCATCATCACGgtaagccaccccag chr1:155236261 (-) 0.1;TOLERATED Alfonso (2007) J Hum Genet 52, 391
Nonsense GBA 2629 [NM_001005742.2:c.1201C>T][NP_001005742.1:p.Q401X] C-T CAG-TAG Gln-Ter 401 chr1:155206059 (-) GTGCGGCTAGGCTCCTGGGATCGAGGGATG[C/T]AGTACAGCCACAGCATCATCACGgtaagcc chr1:155236268 (-)
Missense DM CM0910859 Parkinson disease GBA 2629 [NM_001005742.2:c.1147G>A][NP_001005742.1:p.G383S] G-A GGC-AGC Gly-Ser 383 chr1:155206113 (-) ACCATGCTCTTTGCCTCAGAGGCCTGTGTG[G/A]GCTCCAAGTTCTGGGAGCAGAGTGTGCGGC chr1:155236322 (-) Sidransky (2009) N Engl J Med 361, 1651
Missense DM? CM910176 rs2230288 Gaucher disease GBA 2629 [NM_001005742.2:c.1093G>A ][NP_001005742.1:p.E365K ] G-A GAG-AAG Glu-Lys 365 chr1:155206167 (-) TTTCTGGCTCCAGCCAAAGCCACCCTAGGG[G/A]AGACACACCGCCTGTTCCCCAACACCATGC chr1:155236376 (-) 0.85;TOLERATED Eyal (1991) Hum Genet 87, 328
Missense GBA 2629 [NM_001005742.2:c.1006A>T][NP_001005742.1:p.T336S] A-T ACA-TCA Thr-Ser 336 chr1:155206254 (-) ggatcagttgctcttcctttgcagGTACTG[A/T]CAGACCCAGAAGCAGCTAAATATGTTCATG chr1:155236463 (-)
Missense rs1057519020 GBA 2629 [NM_001005742.2:c.835C>G ][NP_001005742.1:p.L279V] C-G CTG-GTG Leu-Val 279 chr1:155207296 (-) GTGACAGCTGAAAATGAGCCTTCTGCTGGG[C/G]TGTTGAGTGGATACCCCTTCCAGTGCCTGG chr1:155237505 (-) 0.18;TOLERATED
Missense GBA 2629 [NM_001005742.2:c.809C>T][NP_001005742.1:p.T270I] C-T ACA-ATA Thr-Ile 270 chr1:155207322 (-) CTGAGCACAAGTTACAGTTCTGGGCAGTGA[C/T]AGCTGAAAATGAGCCTTCTGCTGGGCTGTT chr1:155237531 (-) 0;DELETERIOUS
Missense DM CM940805 Gaucher disease GBA 2629 [NM_001005742.2:c.644C>A][NP_001005742.1:p.A2015D] C-A GCC-GAC Ala-Asp 215 chr1:155208042 (-) AGTTGGCCCAGCGTCCCGTTTCACTCCTTG[C/A]CAGCCCCTGGACATCACCCACTTGGCTCAA chr1:155238251 (-) Beutler (1994) Mol Med 1, 82
NA rs71628662 ASH1L 55870 A-G chr1:155359992 (-) ctggcataacattatttataacattccctt[a/g]ttagtctcttaatgagtctaggacctatag chr1:155390201 (-)
NA rs17649050 G-C chr1:171713808 (+) cttcgtagggaaatactctcaggaaagcaa[g/c]gttaaagcaagcaaaaaagcatgtgatttt chr1:171744668 (+)
NA rs10913582 G-A chr1:171715585 (+) accagttaatttaaaaagtcagttacagtg[g/a]tacatatttaaaaatggcaaatatatactt chr1:171746445 (+)
Missense DM CM081739 rs775809722 autosomal recessive Parkinson disease PINK1 65018 [NM_032409.2:c.377A>C ][NP_115785.1:p.Q126P ] A-C CAG-CCG Gln-Pro 126 chr1:20960418 (+) CGGAGAGCCGGCGGGCGGTCTCGGCCTGTC[A/C]GGAGATCCAGgtgagcggggccgggtccta chr1:20633925 (+) Prestel (2008) J Neurol 255, 643
Missense rs71653622 PARK7 11315 [NM_007262.4:c.535G>A][NP_009193.2:p.A179T] G-A GCT-ACT Ala-Thr 179 chr1:8045079 (+) GTTGAAGCCCTGAATGGCAAGGAGGTGGCG[G/A]CTCAAGTGAAGGCTCCACTTGTTCTTAAAG chr1:7985019 (+) 0.42;TOLERATED
NA rs2296887 GBF1 8729 T-C chr10:104005410 (+) GACTTCGGCCTCAATTTCCAGGAAACAGGC[T/C]CCTTCTCTTCTCCCATCTGCTACCAGAGCC chr10:102245653 (+)
NA rs10906923 ITGA8 8516 G-T chr10:15569598 (-) tctgtgtttgtaacaaataaaattcctcat[g/t]tcctgtgatgcttgtcatgtccggagacaa chr10:15527599 (-)
NA rs329648 T-C chr11:133765367 (+) ctgttagggaatttcccatggcagaggttt[t/c]ttcatgtatagatgggcctatttttctgtc chr11:133895472 (+)
NA rs329652 A-G chr11:133769699 (+) gaccgtggtggtctgggaaggcttcaaggt[a/g]ggaagggaacagaatttgcacctcttcttc chr11:133899804 (+)
NA rs11060180 CCDC62 84660 A-G chr12:123303586 (+) aaatgaccgaatctctttagtcaacaaagt[a/g]cagctagaatcagaaaatcatttaattgga chr12:122819039 (+)
Missense DM CM1110090 Parkinson disease LRRK2 120892 [NM_198578.3:c.4310A>G][NP_940980.3:p.N1437S] A-G AAT-AGT Asn-Ser 1437 chr12:40703028 (+) AAGTTGATGCCATGAAGCCTTGGCTCTTCA[A/G]TATAAAGgtgatttgttctgatcatttgaa chr12:40309226 (+) Brockmann (2011) Mov Disord 26, 2335
NA rs7177694 C-T chr15:63379737 (+) ttataaaaattagccgggcgtggtggcggg[c/t]gcctgtagtcccagctacttgggaggctga chr15:63087538 (+)
NA rs7185232 RABEP2 79874 G-A chr16:28933468 (-) caggagtttgagaccagcctgggcaccaaa[g/a]tgagacccttagctgggtatggtggcaagt chr16:28922147 (-)
NA rs7140 SPNS1 83985 C-A chr16:28995757 (+) CTGGGCCGTGTGCCAGCTCCCAGACACTAC[C/A]TGGGTAGCTCAGGGGAGGAGGTGGGGGTCC chr16:28984436 (+)
NA rs14235 BCKDK 10295 [NM_005881.3:c.615G>A ][NP_005872.2:p.T205T] G-A ACG-ACA Thr-Thr 205 chr16:31121793 (+) TTCGAGGCTTGGAATCCGCATGTTGGCCAC[G/A]CATCACCTGGCGCTGCATGAGGACAAGgtg chr16:31110472 (+)
NA rs9925964 KAT8 84148 A-G chr16:31129895 (+) tgtgatgtcatccttgattccccttcaggc[a/g]aagtgagtggttcccttctctatgttcctg chr16:31118574 (+)
Nonsense rs141984778 TRAP1 10131 [NM_016292.2:c.139C>T ][NP_057376.2:p.R47X] C-T CGA-TGA Arg-Ter 47 chr16:3740936 (-) CGGAGGACCACAGCCCAGTTGGGCCCCAGG[C/T]GAAACCCAGCCTGGAGCTTGCAGGCAGGAC chr16:3690935 (-)
NA rs11647841 NOD2 64127 G-A chr16:50743331 (+) gaccatgccaagctcctaccagcctgggac[g/a]ctaaaccagcacttccccatttcctgaaag chr16:50709420 (+)
NA rs11868035 SREBF1 6720 C-T chr17:17715101 (-) TCCCTTCTCACCTCCCAGCTCTGTCCCCAT[C/T]AGGTCCCTGGGTGGCACGGGAGGATGGACT chr17:17811787 (-)
NA rs850733 ITGA2B 3674 C-T chr17:42451305 (-) caccactgcactccagcttgggcaacagag[c/t]gagcctccatctcaaaaaaaaaagaaaaaa chr17:44373937 (-)
NA DFP CR024269 rs4988235 association with Lactase persistence MCM6 4175 [NM_005915.5:c.1917+326C>T] C-T chr2:136608646 (-) tgcgctggcaatacagataagataatgtag[c/t]ccctggcctcaaaggaactctcctccttag chr2:135851076 (-) Enattah (2002) Nat Genet 30, 233
NA DFP CR024379 rs182549 association with Lactase persistence MCM6 4175 [NM_005915.5:c.1362+117G>A] G-A chr2:136616754 (-) tgtccttaaaaacagcattctcagctgggc[g/a]cggtggctcacacctttgtcccagtacttt chr2:135859184 (-) Enattah (2002) Nat Genet 30, 233
NA rs41282950 CRLS1 54675 [NM_001127458.1:c.281C>T ][NP_001120930.1:p.P94L] C-T CCA-CTA Pro-Leu 94 chr20:6011934 (+) taaaattattttatgtttgattttcagTTC[C/T]ACTTACTTACATGATCATTTCGAGAGATGT chr20:6031288 (+)
NA rs9290751 A-G chr3:182732230 (+) aaaagtaacacagaatctagacaaaagtaa[a/g]ctgaatggtttttcttcataatgaaaaaag chr3:183014442 (+)
NA rs12637471 MCCC1 56922 C-T chr3:182762437 (-) tcacctcaaggtcaaagcctcatggtctac[c/t]taaggccacagcattctgggccaggccatc chr3:183044649 (-)
NA rs10463554 PAM 5066 T-C chr5:102318974 (+) tttgagaccagctggccaacatggcaaaac[t/c]ccatgtctactaaaaataataaaaataaaa chr5:102983270 (+)
NA rs2694528 NDUFAF2 91942 C-A chr5:60273923 (+) atatctgtgtgcttggggaagggagagtgc[c/a]gggattatcagacattgcgttagaactcag chr5:60978096 (+)
NA rs9487749 C-T chr6:112232986 (+) aaattttgcttaagtgaataaaaacctgtg[c/t]gtccaaagtactgttactcccagccaaact chr6:111911783 (+)
Missense DM? CM096653 rs760223151 Parkinson disease PRKN 5071 [NM_004562.2:c.1286G>A][NP_004553.2:p.G429E] G-A GGA-GAA Gly-Glu 429 chr6:161771243 (-) caccacacctttgttttctgcccccaacag[G/A]AGGCTGCATGCACATGAAGTGTCCGCAGCC chr6:161350211 (-) 0;DELETERIOUS Brüggemann (2009) Parkinsonism Relat Disord 15, 425
Missense DM? CM056983 rs55830907 Parkinson disease PRKN 5071 [NM_004562.2:c.1204C>T ][NP_004553.2:p.R402C] C-T CGT-TGT Arg-Cys 402 chr6:161781201 (-) AGAGTCGATGAAAGAGCCGCCGAGCAGGCT[C/T]GTTGGGAAGCAGCCTCCAAAGAAACCATCA chr6:161360169 (-) 0.01;DELETERIOUS Bertoli-Avella (2005) Mov Disord 20, 424
Missense DM? CM003865 rs199657839 Parkinson disease PRKN 5071 [NM_004562.2:c.1000C>T][NP_004553.2:p.R334C] C-T CGC-TGC Arg-Cys 334 chr6:161969969 (-) GTCCTGCAGATGGGGGGCGTGTTATGCCCC[C/T]GCCCTGGCTGTGGAGCGGGGCTGCTGCCGG chr6:161548937 (-) 0.04;DELETERIOUS Lucking (2000) N Engl J Med 342, 1560
Missense rs56154308 PRKN 5071 [NM_004562.2:c.848T>C ][NP_004553.2:p.L283P ] T-C CTT-CCT Leu-Pro 283 chr6:162206827 (-) ATGATCGGCAGTTTGTTCACGACCCTCAAC[T/C]TGGCTACTCCCTGCCTTGTGTGGgtaagtc chr6:161785795 (-) 0.05;DELETERIOUS
Missense DM? CM056032 rs1388911686 early-onset Parkinson disease PRKN 5071 [NM_004562.2:c.634T>G ][NP_004553.2:p.C212G] T-G TGT-GGT Cys-Gly 212 chr6:162394434 (-) ttatctttctttcagGAATTTTTCTTTAAA[T/G]GTGGAGCACACCCCACCTCTGACAAGGAAA chr6:161973402 (-) Shyu (2005) Parkinsonism Relat Disord 11, 173
Splice PRKN 5071 [NM_004562.2:c.534+1G>A] G-A IVS4, ds, +1 chr6:162622162 (-) TGCAGGCAGGCAACGCTCACCTTGACCCAG[g/a]taaggaaatgcagtgtcagcatgagactgc chr6:162201130 (-)
Missense DM? CM012632 rs55774500 early-onset Parkinson disease PRKN 5071 [NM_004562.2:c.245C>A ][NP_004553.2:p.A82E] C-A GCA-GAA Ala-Glu 82 chr6:162683724 (-) GACCGTGGAGAAAAGGTCAAGAAATGAATG[C/A]AACTGGAGGCGACGACCCCAGAAACGCGGC chr6:162262692 (-) 0.92;TOLERATED Hedrich (2001) Hum Mol Genet 10, 1649
Nonsense rs1440010564 PRKN 5071 [NM_004562.2:c.73C>T ][NP_004553.2:p.Q25X] C-T CAG-TAG Gln-Ter 25 chr6:162864440 (-) GTGGAGGTCGATTCTGACACCAGCATCTTC[C/T]AGCTCAAGGAGGTGGTTGCTAAGCGACAGG chr6:162443408 (-)
NA rs199347 GPNMB 10457 A-G chr7:23293746 (+) gttagctctaaatgtttatgaacgaaagga[a/g]aaagatgctggatcatcgagccccactttt chr7:23254127 (+)
NA rs858275 GPNMB 10457 T-C chr7:23294144 (+) gacctactgcagcaaaccagtggctctccc[t/c]tgcttggagccctcttcaaaagccacatca chr7:23254525 (+)