SNPMiner Trials by Shray Alag

L858R (324) T790M (316) V600E (256) T315I (102) L861Q (92) M184V (67) V617F (54) G20210A (53) K65R (52) V600K (51) C282Y (50) V66M (49) G551D (42) P13K (39) C677T (34) A118G (29) I84V (27) V158M (26) H63D (25) V32I (24) S768I (24) I50V (23) I47V (21) K103N (21) Y181C (20) L33F (19) K27M (19) T380A (18) L76V (18) D842V (18) D816V (17) S1251N (17) S1255P (17) G178R (17) G1244E (17) S549R (17) G1349D (17) V82A (16) R117H (16) M41L (16) S549N (16) G12C (16) C3435T (16) G551S (16) Q151M (16) Q12H (15) K219Q (15) I54L (15) G719A (14) K70E (14) C797S (14) L90M (13) L74V (13) E138A (13) D67N (13) K70R (13) L89V (13) L210W (13) Y188L (13) P4503A (12) G11778A (12) L265P (12) M46I (12) I54M (12) G12D (12) V11I (12) R132H (12) G48V (11) D961H (11) T74P (11) R192G (11) E255K (11) V299L (10) K101E (10) G2677T (9) T25W (9) V106A (9) G12V (9) M184I (9) H221Y (9) V30M (9) V600D (9) G1691A (8) F227C (8) T215Y (8) I50L (8) A1298C (8) L100I (8) Y253H (8) F317L (7) N155H (7) S298P (7) G190A (7) M230I (7) C1236T (7) V600R (7) Y188C (7) G2019S (7) P225H (6) Y93H (6) F359C (6) V108I (6) A3243G (6) G73S (6) P12A (6) Y115F (6) E545K (6) Q148H (6) Y537S (6) E542K (6) I10A (6) M230L (6) H1047R (6) N40D (6) D299G (6) D30N (6) M235T (6) D538G (6) Q12W (5) I148M (5) T87Q (5) I47A (5) L74I (5) E92Q (5) N680S (5) G93A (5) A455E (5) M204V (5) D1152H (5) L755S (5) G13D (5) G190S (5) N363S (5) A181V (5) V179L (5) L24I (5) N88S (5) A2143G (5) T399I (5) M36I (5) F53L (5) T315A (5) R263K (5) R132C (5) V777L (5) T1405N (4) D579G (4) G719C (4) N370S (4) R117C (4) Q16W (4) L98H (4) A98G (4) K20M (4) E138G (4) E138K (4) L31M (4) E157Q (4) L10F (4) Q80K (4) C31G (4) L206W (4) P140K (4) I54V (4) K76T (4) Y537C (4) I1314L (4) S945L (4) Y402H (4) P1446A (4) V179D (4) N88D (4) A6986G (4) N236T (4) A1166C (4) G970R (4) Y181I (4) R352Q (4) G2385R (4) S310F (4) P67L (4) R1070W (4) G140A (4) E23K (4) S463P (4) T14484C (3) G719S (3) R206H (3) S1400A (3) S1400I (3) A71V (3) C134W (3) R24W (3) C481S (3) T24H (3) V122I 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T215F (2) E56K (2) A2063G (2) D769H (2) L248V (2) E280A (2) Q21D (2) E504K (2) Q141K (2) R496H (2) S100P (2) L536R (2) L536Q (2) L536P (2) A143T (2) C19P (2) T97A (2) G3556C (2) Q24W (2) K751Q (2) T4396G (2) V151L (2) G170R (2) A581G (2) L536H (2) G12R (2) G193E (2) F876L (2) R479H (2) Q28D (2) G190E (2) R347H (2) K601E (2) G16R (2) R831C (2) G5271C (2) V75I (2) G681A (2) A270S (2) L63P (2) L869R (2) P236L (2) R831H (2) T13D (2) H1047L (2) C3670T (2) V34L (2) E255V (2) G469A (2) V57I (2) L144F (2) M233I (2) C825T (2) C8092A (2) G776C (2) G776V (2) F121Y (2) R172S (2) R172W (2) R172M (2) Q192R (2) R172G (2) E380Q (2) Y121F (2) K101P (2) R61C (2) V600M (2) F31I (2) K540E (2) K103H (2) R132V (2) D1270N (2) R1628P (2) R132S (2) V534E (2) R132G (2) R132L (2) K238N (2) G4655A (2) S112A (2) I84A (2) Y129S (1) G1388A (1) S77F (1) R20A (1) V140A (1) C686A (1) I1768V (1) E25K (1) K652E (1) C420R (1) S9304A (1) R337H (1) C421A (1) V189I (1) K304E (1) A7445G (1) D19H (1) L304P (1) Q36W (1) Y454S 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(1) I305F (1) N682S (1) T1010I (1) I655V (1) R885H (1) G7444A (1) R776G (1) E354Q (1) A21443C (1) R620W (1) A54T (1) D594G (1) T49A (1) F116Y (1) H870R (1) G205S (1) R535H (1) I767M (1) L55M (1) E571K (1) L55R (1) M2540A (1) E92K (1) G238A (1) L838P (1) E6V (1) L814P (1) K509I (1) V21I (1) G699A (1) V167F (1) L33P (1) M66V (1) D61804R (1) R849W (1) V762A (1) D816H (1) V326L (1) V108M (1) L58H (1) V411L (1) E158K (1) N334K (1) A1067T (1) S1800A (1) G894T (1) G202A (1) C282T (1) I191V (1) G435A (1) K1060T (1) A10H (1) R272G (1) V654A (1) V106T (1) C1091T (1) I638F (1) P317R (1) V433M (1) S230R (1) R4E (1) N550H (1) P1058A (1) N550K (1) E709Q (1) G304A (1) T124A (1) S253N (1) G1316A (1) M552V (1) M552I (1) R182H (1) D835V (1) A871E (1) D835Y (1) A677G (1) C1950G (1) H1505R (1) A893S (1) L597Q (1) S2808A (1) N55H (1) K28M (1) D89E (1) L485W (1) M9346A (1) L159F (1) A437G (1) R92Q (1) V29C (1) L38V (1) G135C (1) A677V (1) C34T (1) G93R (1) R270H (1) V321A (1) C10D (1) R122W (1) G308V (1) 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SNPMiner SNPMiner Trials (Home Page)


Report for Mutation G71R

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 2 clinical trials

Clinical Trials


1 A Phase I Clinical Trial to Investigate the Correlation Between UGT1A1 Genotype and Irinotecan (CPT-11) Pharmacokinetics and Toxicity in Cancer Patients

Phase I trial to study genetic testing and the effectiveness of irinotecan in treating patients who have solid tumors and lymphoma. Drugs used in chemotherapy use different ways to stop cancer cells from dividing so they stop growing or die. Genetic testing for a specific enzyme may help doctors determine whether side effects from or response to chemotherapy are related to a person's genetic makeup

NCT00003970
Conditions
  1. AIDS-related Peripheral/Systemic Lymphoma
  2. AIDS-related Primary CNS Lymphoma
  3. Anaplastic Large Cell Lymphoma
  4. Angioimmunoblastic T-cell Lymphoma
  5. Extranodal Marginal Zone B-cell Lymphoma of Mucosa-associated Lymphoid Tissue
  6. Intraocular Lymphoma
  7. Nodal Marginal Zone B-cell Lymphoma
  8. Primary Central Nervous System Non-Hodgkin Lymphoma
  9. Recurrent Adult Burkitt Lymphoma
  10. Recurrent Adult Diffuse Large Cell Lymphoma
  11. Recurrent Adult Diffuse Mixed Cell Lymphoma
  12. Recurrent Adult Diffuse Small Cleaved Cell Lymphoma
  13. Recurrent Adult Hodgkin Lymphoma
  14. Recurrent Adult Immunoblastic Large Cell Lymphoma
  15. Recurrent Adult Lymphoblastic Lymphoma
  16. Recurrent Adult T-cell Leukemia/Lymphoma
  17. Recurrent Cutaneous T-cell Non-Hodgkin Lymphoma
  18. Recurrent Grade 1 Follicular Lymphoma
  19. Recurrent Grade 2 Follicular Lymphoma
  20. Recurrent Grade 3 Follicular Lymphoma
  21. Recurrent Mantle Cell Lymphoma
  22. Recurrent Marginal Zone Lymphoma
  23. Recurrent Mycosis Fungoides/Sezary Syndrome
  24. Recurrent Small Lymphocytic Lymphoma
  25. Small Intestine Lymphoma
  26. Splenic Marginal Zone Lymphoma
  27. Stage III Adult Burkitt Lymphoma
  28. Stage III Adult Diffuse Large Cell Lymphoma
  29. Stage III Adult Diffuse Mixed Cell Lymphoma
  30. Stage III Adult Diffuse Small Cleaved Cell Lymphoma
  31. Stage III Adult Hodgkin Lymphoma
  32. Stage III Adult Immunoblastic Large Cell Lymphoma
  33. Stage III Adult Lymphoblastic Lymphoma
  34. Stage III Adult T-cell Leukemia/Lymphoma
  35. Stage III Cutaneous T-cell Non-Hodgkin Lymphoma
  36. Stage III Grade 1 Follicular Lymphoma
  37. Stage III Grade 2 Follicular Lymphoma
  38. Stage III Grade 3 Follicular Lymphoma
  39. Stage III Mantle Cell Lymphoma
  40. Stage III Marginal Zone Lymphoma
  41. Stage III Mycosis Fungoides/Sezary Syndrome
  42. Stage III Small Lymphocytic Lymphoma
  43. Stage IV Adult Burkitt Lymphoma
  44. Stage IV Adult Diffuse Large Cell Lymphoma
  45. Stage IV Adult Diffuse Mixed Cell Lymphoma
  46. Stage IV Adult Diffuse
  47. Stage IV Adult Diffuse Small Cleaved Cell Lymphoma
  48. Stage IV Adult Hodgkin Lymphoma
  49. Stage IV Adult Immunoblastic Large Cell Lymphoma
  50. Stage IV Adult Lymphoblastic Lymphoma
  51. Stage IV Adult T-cell Leukemia/Lymphoma
  52. Stage IV Cutaneous T-cell Non-Hodgkin Lymphoma
  53. Stage IV Grade 1 Follicular Lymphoma
  54. Stage IV Grade 2 Follicular Lymphoma
  55. Stage IV Grade 3 Follicular Lymphoma
  56. Stage IV Mantle Cell Lymphoma
  57. Stage IV Marginal Zone Lymphoma
  58. Stage IV Mycosis Fungoides/Sezary Syndrome
  59. Stage IV Small Lymphocytic Lymphoma
  60. Unspecified Adult Solid Tumor, Protocol Specific
Interventions
  1. Drug: irinotecan hydrochloride
MeSH:Mycoses Burkitt Lymphoma Lymphoma Leukemia Lymphoma, Follicular Lymphoma, Non-Hodgkin Lymphoma, B-Cell Hodgkin Disease Lymphoma, Mantle-Cell Lymphoma, B-Cell, Marginal Zone Leukemia, Lymphocytic, Chronic, B-Cell Lymphoma, T-Cell Precursor Cell Lymphoblastic Leukemia-Lymphoma Lymphoma, Large B-Cell, Diffuse Lymphoma, Large-Cell, Immunoblastic Plasmablastic Lymphoma Mycosis Fungoides Sezary Syndrome Lymphoma, T-Cell, Cutaneous Leukemia, T-Cell Leukemia-Lymphoma, Adult T-Cell Lymphoma, Large-Cell, Anaplastic Intraocular Lymphoma Immunoblastic Lymphadenopathy Syndrome
HPO:Anaplastic large-cell lymphoma B-cell lymphoma Burkitt lymphoma Chronic lymphatic leukemia Cutaneous T-cell lymphoma Hodgkin lymphoma Leukemia Lymphoma Non-Hodgkin lymphoma T-cell lymphoma

Inclusion Criteria: - Histologically proven solid tumor or lymphoma - Responded to irinotecan OR no existing curative therapy - No leukemia - Measurable or evaluable disease - Performance status - Karnofsky 70-100% - WBC at least 3500/mm^3 - Absolute neutrophil count at least 1500/mm^3 - Platelet count at least 100,000/mm^3 - Bilirubin normal - SGOT/SGPT less than 5 times upper limit of normal (unless due to disease) - Creatinine no greater than 1.5 mg/dL - Creatinine clearance at least 60 mL/min - Not pregnant or nursing - Fertile patients must use effective contraception - No inflammatory bowel disease requiring therapy - No chronic diarrhea syndrome or paralytic ileus - At least 2 weeks since prior colony stimulating factor - At least 4 weeks since prior biologic therapy - No concurrent biologic therapy - See Disease Characteristics - At least 4 weeks since prior chemotherapy (6 weeks for nitrosoureas or mitomycin) - No other concurrent chemotherapy - At least 4 weeks since prior radiotherapy to greater than 25% of bone marrow - No concurrent palliative radiotherapy - No prior transplant - No concurrent substrates of UGT1A1 enzyme - No concurrent inducers or inhibitors of UGT1A1 enzyme activity Inclusion Criteria: - Histologically proven solid tumor or lymphoma - Responded to irinotecan OR no existing curative therapy - No leukemia - Measurable or evaluable disease - Performance status - Karnofsky 70-100% - WBC at least 3500/mm^3 - Absolute neutrophil count at least 1500/mm^3 - Platelet count at least 100,000/mm^3 - Bilirubin normal - SGOT/SGPT less than 5 times upper limit of normal (unless due to disease) - Creatinine no greater than 1.5 mg/dL - Creatinine clearance at least 60 mL/min - Not pregnant or nursing - Fertile patients must use effective contraception - No inflammatory bowel disease requiring therapy - No chronic diarrhea syndrome or paralytic ileus - At least 2 weeks since prior colony stimulating factor - At least 4 weeks since prior biologic therapy - No concurrent biologic therapy - See Disease Characteristics - At least 4 weeks since prior chemotherapy (6 weeks for nitrosoureas or mitomycin) - No other concurrent chemotherapy - At least 4 weeks since prior radiotherapy to greater than 25% of bone marrow - No concurrent palliative radiotherapy - No prior transplant - No concurrent substrates of UGT1A1 enzyme - No concurrent inducers or inhibitors of UGT1A1 enzyme activity AIDS-related Peripheral/Systemic Lymphoma AIDS-related Primary CNS Lymphoma Anaplastic Large Cell Lymphoma Angioimmunoblastic T-cell Lymphoma Extranodal Marginal Zone B-cell Lymphoma of Mucosa-associated Lymphoid Tissue Intraocular Lymphoma Nodal Marginal Zone B-cell Lymphoma Primary Central Nervous System Non-Hodgkin Lymphoma Recurrent Adult Burkitt Lymphoma Recurrent Adult Diffuse Large Cell Lymphoma Recurrent Adult Diffuse Mixed Cell Lymphoma Recurrent Adult Diffuse Small Cleaved Cell Lymphoma Recurrent Adult Hodgkin Lymphoma Recurrent Adult Immunoblastic Large Cell Lymphoma Recurrent Adult Lymphoblastic Lymphoma Recurrent Adult T-cell Leukemia/Lymphoma Recurrent Cutaneous T-cell Non-Hodgkin Lymphoma Recurrent Grade 1 Follicular Lymphoma Recurrent Grade 2 Follicular Lymphoma Recurrent Grade 3 Follicular Lymphoma Recurrent Mantle Cell Lymphoma Recurrent Marginal Zone Lymphoma Recurrent Mycosis Fungoides/Sezary Syndrome Recurrent Small Lymphocytic Lymphoma Small Intestine Lymphoma Splenic Marginal Zone Lymphoma Stage III Adult Burkitt Lymphoma Stage III Adult Diffuse Large Cell Lymphoma Stage III Adult Diffuse Mixed Cell Lymphoma Stage III Adult Diffuse Small Cleaved Cell Lymphoma Stage III Adult Hodgkin Lymphoma Stage III Adult Immunoblastic Large Cell Lymphoma Stage III Adult Lymphoblastic Lymphoma Stage III Adult T-cell Leukemia/Lymphoma Stage III Cutaneous T-cell Non-Hodgkin Lymphoma Stage III Grade 1 Follicular Lymphoma Stage III Grade 2 Follicular Lymphoma Stage III Grade 3 Follicular Lymphoma Stage III Mantle Cell Lymphoma Stage III Marginal Zone Lymphoma Stage III Mycosis Fungoides/Sezary Syndrome Stage III Small Lymphocytic Lymphoma Stage IV Adult Burkitt Lymphoma Stage IV Adult Diffuse Large Cell Lymphoma Stage IV Adult Diffuse Mixed Cell Lymphoma Stage IV Adult Diffuse Stage IV Adult Diffuse Small Cleaved Cell Lymphoma Stage IV Adult Hodgkin Lymphoma Stage IV Adult Immunoblastic Large Cell Lymphoma Stage IV Adult Lymphoblastic Lymphoma Stage IV Adult T-cell Leukemia/Lymphoma Stage IV Cutaneous T-cell Non-Hodgkin Lymphoma Stage IV Grade 1 Follicular Lymphoma Stage IV Grade 2 Follicular Lymphoma Stage IV Grade 3 Follicular Lymphoma Stage IV Mantle Cell Lymphoma Stage IV Marginal Zone Lymphoma Stage IV Mycosis Fungoides/Sezary Syndrome Stage IV Small Lymphocytic Lymphoma Unspecified Adult Solid Tumor, Protocol Specific Mycoses Burkitt Lymphoma Lymphoma Leukemia Lymphoma, Follicular Lymphoma, Non-Hodgkin Lymphoma, B-Cell Hodgkin Disease Lymphoma, Mantle-Cell Lymphoma, B-Cell, Marginal Zone Leukemia, Lymphocytic, Chronic, B-Cell Lymphoma, T-Cell Precursor Cell Lymphoblastic Leukemia-Lymphoma Lymphoma, Large B-Cell, Diffuse Lymphoma, Large-Cell, Immunoblastic Plasmablastic Lymphoma Mycosis Fungoides Sezary Syndrome Lymphoma, T-Cell, Cutaneous Leukemia, T-Cell Leukemia-Lymphoma, Adult T-Cell Lymphoma, Large-Cell, Anaplastic Intraocular Lymphoma Immunoblastic Lymphadenopathy Syndrome OBJECTIVES: I. Classify patients with solid tumors or lymphoma according to UGT1A1 promoter (TATA box) and coding region (Gly71Arg) mutation, and CYP3A4 promoter (G to A) polymorphisms. --- Gly71Arg ---

The DNA is analyzed for the UGT1A1 coding region mutation (Gly71Arg) and CYP3A4 promoter polymorphism. --- Gly71Arg ---

Primary Outcomes

Description: A Cochran-Armitage test for trend will be used to determine whether there is a linear trend in the proportion of patients within each genotype experiencing grade 3-4 diarrhea. Similarly, trend analysis will be performed to determine if there is a linear trend in the proportion of patients within each phenotype experiencing grade 3-4 myelosuppression. Genotype (3 ordered levels) will be modeled as a function of metabolic ratios and biliary index to determine whether these are independent.

Measure: Grade 3-4 diarrhea

Time: Up to 4 years

Secondary Outcomes

Description: A chi-squared test will be used to determine whether genotype and phenotype are independent.

Measure: Genotype

Time: Up to 4 years

Description: A chi-squared test will be used to determine whether genotype and phenotype are independent. Modeled as a function of metabolic ratios and biliary index.

Measure: Phenotype

Time: Up to 4 years

2 Establishing Novel Detection Techniques for Various Genetic-Related Diseases by Applying DHPLC Platform.

In this, here we want to present a new method for analysis variation in gene copy number for patients and carriers of SMA. This is a relative quantitation method and, therefore, relies on the inclusion of one or more internal control or reference sequences; quantitation of DNA is relative to this reference sequence of known copy number. A peak height from within a potentially duplicated or deleted target region is amplified simultaneously with a disomic reference region in a multiplex PCR system.

NCT00154960
Conditions
  1. Spinal Muscular Atrophy
  2. Neonatal Hyperbilirubinemia
  3. Colon Cancer
MeSH:Muscular Atrophy Muscular Atrophy, Spinal Hyperbilirubinemia, Neonatal Atrophy Hyperbilirubinemia
HPO:Neonatal hyperbilirubinemia Skeletal muscle atrophy Spinal muscular atrophy

The high allele-frequency of Gly71Arg and promoter polymorphism in UGT1A1 gene was found to be responsible for neonatal hyperbilirubinemia without obvious cause. --- Gly71Arg ---



HPO Nodes


HP:0003202: Skeletal muscle atrophy
Genes 752
ATP7A LMNA CHRNA1 VCP PNPLA6 SDCCAG8 PUS1 CAPN1 TBC1D23 AIFM1 ITGA7 RBM28 SMCHD1 POLG ERCC8 NEB BICD2 GBA2 COL7A1 C12ORF65 SYT2 POMT2 YARS2 GJB1 PSAT1 GNE HSPB3 LEMD3 ADK EGR2 MCCC2 KLC2 TGFB1 SUCLA2 BBS12 TRNL1 VPS13D TRNE C19ORF12 RYR1 NPHP1 BVES CHN1 LMNA VAMP1 SLC16A2 FBXO38 TTN ZBTB20 SYNE2 COL6A1 C9ORF72 TDP1 EXOSC3 HNRNPDL MFN2 FBXL4 IFRD1 GDAP1 PIEZO2 SYNE1 TMEM43 ZFYVE26 KY TARDBP TRPV4 MUSK ACTA1 LARGE1 BBS7 EMD NEFL WARS2 SPAST GPR35 RYR1 PMP22 NEB PIP5K1C MPZ C12ORF65 KLHL41 CHCHD10 FUS VCP CTLA4 SETX HINT1 SGCD TRIM32 FHL1 LMNA SDHA LRP4 SCN9A SMCHD1 FLNC MAG NEFL B3GALNT2 DCTN1 REEP1 PDK3 CHRNB1 RYR1 AGL MECP2 DHH TCF4 SPRTN NAGA SGCG SLC52A2 LAMB2 DAG1 SIL1 KLHL41 MUSK PUS1 TIA1 CPLANE1 VCP DOK7 LZTFL1 PAX7 FIG4 TNNT1 PMP22 NEB KIF1A PRPH SLC46A1 CD59 SLC5A7 B4GALT7 DHTKD1 COL6A3 BBS9 TPM2 CRPPA PLP1 ALDH18A1 CHRNE NBN ANO5 COL13A1 ACTA1 TTC8 POMT1 COASY MPZ SEPTIN9 PSMB8 VAMP1 FKBP14 CHRNB1 WDPCP CUL4B ADSS1 MECP2 PHGDH ACADM PON1 WNK1 COL12A1 CPT1A SELENON NIPA1 PYGM TBCD ATXN2 SLC33A1 BAG3 POLG ACADSB COL6A1 SIGMAR1 PMP22 PTEN PDE11A AP1S2 BMP1 MSTO1 DNM2 PRPS1 WRN MYOT BSCL2 CHMP2B SVBP TFG PEX5 TK2 MYOT C12ORF65 KLHL40 RNASEH1 YY1 OPA1 NEU1 POMT1 HSPB1 OPTN SGCB ANTXR2 PRUNE1 COL2A1 PRKACA KIF1C VCP TK2 ATXN1 RRM2B FHL1 MYH7 GNE MPZ OPA1 PLEKHG5 NEB HARS1 GBE1 LMNA COA7 DGUOK DALRD3 RXYLT1 STAC3 TARDBP MKS1 BBS2 PHF6 MAFB ATXN3 SMN1 NDUFA9 GDAP1 TPM3 TBCK UBA1 FIG4 FBLN5 INPP5K FLVCR1 TAF15 MTAP PLEC ADSL TMEM43 IBA57 MST1 LMNB2 TPI1 SIL1 CCT5 ADARB1 PYROXD1 SFXN4 NEU1 NARS2 MYH7 NEFH CA8 SMN1 DGUOK VCP MORC2 NEFH MYOD1 BIN1 TRAPPC11 TRAPPC11 FKRP CHP1 HNRNPA2B1 SLC39A13 CAPN3 TBK1 SQSTM1 MAP3K20 GDAP1 MRE11 PNKP LMNA DNAJB2 LMNA ABCA1 RYR1 SURF1 BBS5 VAPB PRKAR1A ACTN2 SOX10 PEX6 LRP12 BSCL2 UNC13A MYH7 C19ORF12 BIN1 TNFRSF1B ATXN2 ATP8A2 SLC25A21 MYH14 SYNE1 WARS2 MKKS ASAH1 PHKA1 CHRND TK2 ANG NDE1 STAC3 TRIP4 RYR1 CHRNA1 PNKP CAV3 RPS6KA3 RETREG1 TIA1 MYH7 SPART BBS10 TTN CCNF DCTN1 CHRNG TYMP DNM1L CAPN3 TNXB GDAP1 HEXB LRSAM1 ANXA11 DAO SOD1 PGAP1 FLRT1 DMD HSPB1 RAB7A C19ORF12 ATAD3A LEMD3 TPM3 PYCR2 ERBB3 ACTB DUX4 BICD2 CYP7B1 SLC25A1 TRPV4 EPHA4 TIA1 SALL4 AIFM1 MED25 SLC12A6 TUBB2B SETX DCTN1 REEP1 COL13A1 PEX7 ZC4H2 FRG1 AFG3L2 FKTN REEP1 SQSTM1 B4GALNT1 SPEG SPART ACTA1 CHAT GLE1 ADSS1 GFPT1 AIFM1 MME COG7 NEK1 C9ORF72 ANO5 ERLIN1 SLC18A3 TRPV4 SH3TC2 PLOD3 COL6A1 PNPLA6 SACS SLC39A13 COL4A1 PFN1 ACTA1 ARSI HNRNPA1 BBIP1 TBK1 SCN4A SMN1 CHRNE CRPPA TDP1 FKBP14 SMN1 B4GALNT1 KIF1A SELENON PDE8B IFT27 PNPLA2 LMNA GARS1 AARS1 FKTN AMPD2 ANO5 TBCE LIMS2 HINT1 TNNT1 ERLIN2 FARS2 DOK7 PON3 SLC52A3 C8ORF37 KLC2 RNASEH1 IGHMBP2 FKRP FUS TPI1 POLG LITAF SPG11 HNRNPA1 TBK1 CD28 PTRH2 FXN ATM HNRNPA1 DYSF SDHD SLC25A4 PLXND1 KDM5C CEP290 GJB1 KLHL41 TBCE SLC9A6 FUS NUP88 TPM3 TTC19 TRIM32 TTN AP1S2 AIP KY TTN B4GAT1 VRK1 MTM1 SGCD HSPB8 DCAF8 GLB1 ATL1 SOD1 FKTN NUP88 MTMR2 POMGNT1 PFN1 VCP IFT172 GLE1 JPH1 TPM2 TCAP ATXN3 MPV17 DYNC1H1 TTPA PNKP GNAS ALDH18A1 SLC18A3 ATL1 CHRNE INSR EGR2 ABHD12 ERGIC1 INF2 SLC7A7 CRPPA DARS2 LDB3 CRPPA PIK3R2 FLNC TNXB FGD4 MYPN PEX10 STIM1 YARS1 ALDH18A1 GLE1 VLDLR KAT6A REEP1 ALS2 MGME1 CAPN3 GJB1 OGDH DAG1 DYSF DOK7 BICD2 SPTBN4 COL6A2 MATR3 MYMK AMPD2 SACS MPZ SCO2 CHRND NDUFS4 PON2 PPARGC1A HUWE1 MYBPC1 ACTA1 CHCHD10 DNAJC19 PNPT1 ATP8 REV3L VMA21 NDUFAF6 ACTA1 ENTPD1 RAPSN CHMP2B NDRG1 KIF5A ATXN3 KIF1B MYPN SDHAF1 VCP AGRN SCYL1 HK1 GLE1 SUCLG1 SLC25A19 BSCL2 MUSK GFPT1 ERCC6 WASHC5 COLQ SNAP25 USP8 CARS1 HMGA2 MGME1 INSR SQSTM1 RTN2 POMK TFG GYG1 DMD CCDC115 FLNA KLHL9 AGRN GARS1 CHCHD10 RBM28 KBTBD13 ASAH1 SPG11 FITM2 AGTPBP1 TARDBP MYH3 COL6A3 TRPV4 AFG3L2 BBS1 PRX FKRP TPM2 SLC5A7 CNTNAP1 COL6A2 DNA2 EXOSC8 RAPSN PHKA2 MATR3 PMP22 ATL1 COL6A3 POMT1 COG8 CFAP410 KIF1A KCNK9 TGFB1 POMGNT2 HSPG2 VAPB ZFYVE26 RAI1 SQSTM1 MPZ PMP22 NALCN POMT2 COL6A2 MME TRAPPC11 SLC33A1 CPT1C PHKG2 GMPPB MDH2 SCN4A VPS13A C9ORF72 NOP56 VPS13A COL6A1 NGLY1 CEP126 CTNS NEFH STUB1 SQSTM1 ATAD3A ATXN3 BSCL2 MPZ COL6A2 FRG1 ASCC1 DNMT3B COL12A1 KIF1C FARS2 NDUFA12 PLEC FAM111B COL6A3 HNRNPA2B1 DYSF PNPLA6 PRX NOP56 PMP22 COQ2 CPT1C SMN2 MPZ LTBP4 WDR81 AK9 YARS2 TBCD HSPG2 ALS2 SLC16A2 GARS1 GLT8D1 MYO9A ATXN1 BBS4 TTN VAPB ERLIN1 DARS2 PNPLA6 CCT5 MYMK APTX ERBB4 ARL6 UBQLN2 DNM1L LAMP2 SELENON SGCA TREM2 PHYH MYOT PFKM SYNE1 GDAP1 FAM126A LMOD3 AR DYSF ERLIN2 RRM2B POLR2A SYT2 CAPN1 EGR2 POLR3A ERGIC1 CHRNB1 SPTLC1 MFN2 ANG DMPK GAN ZC4H2 MFN2 NAGA SYNE2 SLC52A2 SBF2 TOE1 TPM3 MPZ PRPH MPZ COL6A2 PYCR2 LMOD3 DES HARS1 SDHB
Protein Mutations 1
G71R
SNP 0