Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 39273 single nucleotide variant CUL3, IVS8, A-G, -26 -1 MedGen:C3469606,OMIM:614496,Orphanet:ORPHA300530 na -1 -1 na na 39274 single nucleotide variant CUL3, IVS8, T-G, -28 -1 MedGen:C3469606,OMIM:614496,Orphanet:ORPHA300530 na -1 -1 na na 39275 single nucleotide variant CUL3, IVS8, T-G, -12 -1 MedGen:C3469606,OMIM:614496,Orphanet:ORPHA300530 na -1 -1 na na 39276 single nucleotide variant CUL3, IVS8, T-A, -5 -1 MedGen:C3469606,OMIM:614496,Orphanet:ORPHA300530 na -1 -1 na na 39277 single nucleotide variant CUL3, IVS8, C-T, -3 -1 MedGen:C3469606,OMIM:614496,Orphanet:ORPHA300530 na -1 -1 na na 39278 single nucleotide variant CUL3, IVS8, G-A, -1 -1 MedGen:C3469606,OMIM:614496,Orphanet:ORPHA300530 na -1 -1 na na 39279 single nucleotide variant NM_003590.4(CUL3):c.1238A>G (p.Asp413Gly) 199469656 MedGen:C3469606,OMIM:614496,Orphanet:ORPHA300530;Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 2 225368508 225368508 T C 39279 single nucleotide variant NM_003590.4(CUL3):c.1238A>G (p.Asp413Gly) 199469656 MedGen:C3469606,OMIM:614496,Orphanet:ORPHA300530;Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 2 224503791 224503791 T C 106392 single nucleotide variant NM_003590.4(CUL3):c.1207-12T>G 199469651 Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 2 225368551 225368551 A C 106392 single nucleotide variant NM_003590.4(CUL3):c.1207-12T>G 199469651 Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 2 224503834 224503834 A C 106393 single nucleotide variant NM_003590.4(CUL3):c.1207-1G>A 199469654 Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 2 225368540 225368540 C T 106393 single nucleotide variant NM_003590.4(CUL3):c.1207-1G>A 199469654 Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 2 224503823 224503823 C T 106394 single nucleotide variant NM_003590.4(CUL3):c.1207-26A>G 199469650 Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 2 225368565 225368565 T C 106394 single nucleotide variant NM_003590.4(CUL3):c.1207-26A>G 199469650 Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 2 224503848 224503848 T C 106395 single nucleotide variant NM_003590.4(CUL3):c.1207-28T>G 199469649 Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 2 225368567 225368567 A C 106395 single nucleotide variant NM_003590.4(CUL3):c.1207-28T>G 199469649 Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 2 224503850 224503850 A C 106396 single nucleotide variant NM_003590.4(CUL3):c.1207-3C>T 199469653 Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 2 225368542 225368542 G A 106396 single nucleotide variant NM_003590.4(CUL3):c.1207-3C>T 199469653 Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 2 224503825 224503825 G A 106397 single nucleotide variant NM_003590.4(CUL3):c.1207-5T>A 199469652 Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 2 225368544 225368544 A T 106397 single nucleotide variant NM_003590.4(CUL3):c.1207-5T>A 199469652 Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 2 224503827 224503827 A T 106398 single nucleotide variant NM_003590.4(CUL3):c.1236G>A (p.Leu412=) 199469655 Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 2 225368510 225368510 C T 106398 single nucleotide variant NM_003590.4(CUL3):c.1236G>A (p.Leu412=) 199469655 Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 2 224503793 224503793 C T 106399 single nucleotide variant NM_003590.4(CUL3):c.1376A>G (p.Lys459Arg) 199469658 Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 2 225368370 225368370 T C 106399 single nucleotide variant NM_003590.4(CUL3):c.1376A>G (p.Lys459Arg) 199469658 Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 2 224503653 224503653 T C 106400 deletion NM_003590.4(CUL3):c.1376_1377+4delAGGTAA 199469657 Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 2 225368365 225368370 TTACCT - 106400 deletion NM_003590.4(CUL3):c.1376_1377+4delAGGTAA 199469657 Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 2 224503648 224503653 TTACCT - 106401 duplication NM_003590.4(CUL3):c.1377dupG (p.Thr460Aspfs) 199469659 Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 2 225368369 225368369 C CC 106401 duplication NM_003590.4(CUL3):c.1377dupG (p.Thr460Aspfs) 199469659 Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 2 224503652 224503652 C CC 106402 single nucleotide variant NM_003590.4(CUL3):c.1377+1G>C 199469660 Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 2 225368368 225368368 C G 106402 single nucleotide variant NM_003590.4(CUL3):c.1377+1G>C 199469660 Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 2 224503651 224503651 C G 106403 single nucleotide variant NM_003590.4(CUL3):c.1377+3A>G 199469661 Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 2 225368366 225368366 T C 106403 single nucleotide variant NM_003590.4(CUL3):c.1377+3A>G 199469661 Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 2 224503649 224503649 T C 250580 single nucleotide variant NM_003590.4(CUL3):c.1992A>G (p.Gln664=) 2070127 MedGen:CN239441;MedGen:CN169374 2 225346646 225346646 T C 250580 single nucleotide variant NM_003590.4(CUL3):c.1992A>G (p.Gln664=) 2070127 MedGen:CN239441;MedGen:CN169374 2 224481929 224481929 T C 250581 single nucleotide variant NM_003590.4(CUL3):c.1699G>A (p.Val567Ile) 3738952 MedGen:CN239441;MedGen:CN169374 2 225362478 225362478 C T 250581 single nucleotide variant NM_003590.4(CUL3):c.1699G>A (p.Val567Ile) 3738952 MedGen:CN239441;MedGen:CN169374 2 224497761 224497761 C T 250582 single nucleotide variant NM_003590.4(CUL3):c.1485+13G>A 3754629 MedGen:CN239441;MedGen:CN169374 2 225367669 225367669 C T 250582 single nucleotide variant NM_003590.4(CUL3):c.1485+13G>A 3754629 MedGen:CN239441;MedGen:CN169374 2 224502952 224502952 C T 260864 single nucleotide variant NM_003590.4(CUL3):c.1377G>A (p.Lys459=) 886038765 Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 2 224503652 224503652 C T 260864 single nucleotide variant NM_003590.4(CUL3):c.1377G>A (p.Lys459=) 886038765 Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:C1449844 2 225368369 225368369 G A 284895 single nucleotide variant NM_003590.4(CUL3):c.*3156A>G 78383940 MedGen:CN239441 2 225335806 225335806 T C 284895 single nucleotide variant NM_003590.4(CUL3):c.*3156A>G 78383940 MedGen:CN239441 2 224471089 224471089 T C 284896 single nucleotide variant NM_003590.4(CUL3):c.*3096G>C 886055681 MedGen:CN239441 2 225335866 225335866 C G 284888 single nucleotide variant NM_003590.4(CUL3):c.*4088T>C 556849083 MedGen:CN239441 2 224470157 224470157 A G 284888 single nucleotide variant NM_003590.4(CUL3):c.*4088T>C 556849083 MedGen:CN239441 2 225334874 225334874 A G 284890 single nucleotide variant NM_003590.4(CUL3):c.*3766G>A 886055679 MedGen:CN239441 2 224470479 224470479 C T 284890 single nucleotide variant NM_003590.4(CUL3):c.*3766G>A 886055679 MedGen:CN239441 2 225335196 225335196 C T 284891 single nucleotide variant NM_003590.4(CUL3):c.*3672T>C 2396092 MedGen:CN239441 2 224470573 224470573 A G 284891 single nucleotide variant NM_003590.4(CUL3):c.*3672T>C 2396092 MedGen:CN239441 2 225335290 225335290 A G 284896 single nucleotide variant NM_003590.4(CUL3):c.*3096G>C 886055681 MedGen:CN239441 2 224471149 224471149 C G 284900 deletion NM_003590.4(CUL3):c.*2946_*2949delCCTG 886055682 MedGen:CN239441 2 225336013 225336016 CAGG - 284900 deletion NM_003590.4(CUL3):c.*2946_*2949delCCTG 886055682 MedGen:CN239441 2 224471296 224471299 CAGG - 284901 single nucleotide variant NM_003590.4(CUL3):c.*2912T>C 567860520 MedGen:CN239441 2 225336050 225336050 A G 284901 single nucleotide variant NM_003590.4(CUL3):c.*2912T>C 567860520 MedGen:CN239441 2 224471333 224471333 A G 284908 single nucleotide variant NM_003590.4(CUL3):c.*2863T>G 536790634 MedGen:CN239441 2 224471382 224471382 A C 284908 single nucleotide variant NM_003590.4(CUL3):c.*2863T>G 536790634 MedGen:CN239441 2 225336099 225336099 A C 284917 single nucleotide variant NM_003590.4(CUL3):c.*2431G>T 10498160 MedGen:CN239441 2 224471814 224471814 C A 284917 single nucleotide variant NM_003590.4(CUL3):c.*2431G>T 10498160 MedGen:CN239441 2 225336531 225336531 C A 284918 single nucleotide variant NM_003590.4(CUL3):c.*2272T>C 556914502 MedGen:CN239441 2 224471973 224471973 A G 284918 single nucleotide variant NM_003590.4(CUL3):c.*2272T>C 556914502 MedGen:CN239441 2 225336690 225336690 A G 284919 single nucleotide variant NM_003590.4(CUL3):c.*2195A>G 886055688 MedGen:CN239441 2 225336767 225336767 T C 284919 single nucleotide variant NM_003590.4(CUL3):c.*2195A>G 886055688 MedGen:CN239441 2 224472050 224472050 T C 284927 single nucleotide variant NM_003590.4(CUL3):c.*2130A>G 555995940 MedGen:CN239441 2 224472115 224472115 T C 284927 single nucleotide variant NM_003590.4(CUL3):c.*2130A>G 555995940 MedGen:CN239441 2 225336832 225336832 T C 284928 deletion NM_003590.4(CUL3):c.*1934_*1937delAAGT 533374759 MedGen:CN239441 2 224472308 224472311 ACTT - 284928 deletion NM_003590.4(CUL3):c.*1934_*1937delAAGT 533374759 MedGen:CN239441 2 225337025 225337028 ACTT - 284929 single nucleotide variant NM_003590.4(CUL3):c.*1403A>C 575153722 MedGen:CN239441 2 224472842 224472842 T G 284929 single nucleotide variant NM_003590.4(CUL3):c.*1403A>C 575153722 MedGen:CN239441 2 225337559 225337559 T G 284931 single nucleotide variant NM_003590.4(CUL3):c.*905A>G 764172604 MedGen:CN239441 2 224473340 224473340 T C 284931 single nucleotide variant NM_003590.4(CUL3):c.*905A>G 764172604 MedGen:CN239441 2 225338057 225338057 T C 284932 single nucleotide variant NM_003590.4(CUL3):c.*545A>G 886055693 MedGen:CN239441 2 225338417 225338417 T C 284932 single nucleotide variant NM_003590.4(CUL3):c.*545A>G 886055693 MedGen:CN239441 2 224473700 224473700 T C 284933 single nucleotide variant NM_003590.4(CUL3):c.*207G>A 886055694 MedGen:CN239441 2 225338755 225338755 C T 284933 single nucleotide variant NM_003590.4(CUL3):c.*207G>A 886055694 MedGen:CN239441 2 224474038 224474038 C T 284937 single nucleotide variant NM_003590.4(CUL3):c.2029+14T>C 201363693 MedGen:CN239441 2 225346595 225346595 A G 284937 single nucleotide variant NM_003590.4(CUL3):c.2029+14T>C 201363693 MedGen:CN239441 2 224481878 224481878 A G 284944 single nucleotide variant NM_003590.4(CUL3):c.883+13G>C 147823056 MedGen:CN239441 2 225376058 225376058 C G 284944 single nucleotide variant NM_003590.4(CUL3):c.883+13G>C 147823056 MedGen:CN239441 2 224511341 224511341 C G 284950 single nucleotide variant NM_003590.4(CUL3):c.264+9C>T 200018000 MedGen:CN239441 2 224557650 224557650 G A 284950 single nucleotide variant NM_003590.4(CUL3):c.264+9C>T 200018000 MedGen:CN239441 2 225422367 225422367 G A 285544 single nucleotide variant NM_003590.4(CUL3):c.*3789C>T 4234054 MedGen:CN239441 2 224470456 224470456 G A 285544 single nucleotide variant NM_003590.4(CUL3):c.*3789C>T 4234054 MedGen:CN239441 2 225335173 225335173 G A 285558 deletion NM_003590.4(CUL3):c.*3736delT 5839066 MedGen:CN239441 2 224470509 224470509 A - 285558 deletion NM_003590.4(CUL3):c.*3736delT 5839066 MedGen:CN239441 2 225335226 225335226 A - 285564 single nucleotide variant NM_003590.4(CUL3):c.*3665T>A 374191606 MedGen:CN239441 2 225335297 225335297 A T 285564 single nucleotide variant NM_003590.4(CUL3):c.*3665T>A 374191606 MedGen:CN239441 2 224470580 224470580 A T 285572 single nucleotide variant NM_003590.4(CUL3):c.*3463T>C 76433087 MedGen:CN239441 2 225335499 225335499 A G 285572 single nucleotide variant NM_003590.4(CUL3):c.*3463T>C 76433087 MedGen:CN239441 2 224470782 224470782 A G 285574 single nucleotide variant NM_003590.4(CUL3):c.*3367T>C 4674908 MedGen:CN239441 2 225335595 225335595 A G 285574 single nucleotide variant NM_003590.4(CUL3):c.*3367T>C 4674908 MedGen:CN239441 2 224470878 224470878 A G 285576 single nucleotide variant NM_003590.4(CUL3):c.*2923A>C 73077720 MedGen:CN239441 2 225336039 225336039 T G 285576 single nucleotide variant NM_003590.4(CUL3):c.*2923A>C 73077720 MedGen:CN239441 2 224471322 224471322 T G 285577 single nucleotide variant NM_003590.4(CUL3):c.*2766G>C 747359530 MedGen:CN239441 2 224471479 224471479 C G 285577 single nucleotide variant NM_003590.4(CUL3):c.*2766G>C 747359530 MedGen:CN239441 2 225336196 225336196 C G 285578 single nucleotide variant NM_003590.4(CUL3):c.*2653G>A 3768899 MedGen:CN239441 2 224471592 224471592 C T 285578 single nucleotide variant NM_003590.4(CUL3):c.*2653G>A 3768899 MedGen:CN239441 2 225336309 225336309 C T 285579 single nucleotide variant NM_003590.4(CUL3):c.*2424C>T 886055687 MedGen:CN239441 2 224471821 224471821 G A 285579 single nucleotide variant NM_003590.4(CUL3):c.*2424C>T 886055687 MedGen:CN239441 2 225336538 225336538 G A 285590 single nucleotide variant NM_003590.4(CUL3):c.*2193G>A 73993899 MedGen:CN239441 2 224472052 224472052 C T 285590 single nucleotide variant NM_003590.4(CUL3):c.*2193G>A 73993899 MedGen:CN239441 2 225336769 225336769 C T 285593 single nucleotide variant NM_003590.4(CUL3):c.*1872G>C 140669610 MedGen:CN239441 2 225337090 225337090 C G 285593 single nucleotide variant NM_003590.4(CUL3):c.*1872G>C 140669610 MedGen:CN239441 2 224472373 224472373 C G 285595 single nucleotide variant NM_003590.4(CUL3):c.*1774G>T 13016316 MedGen:CN239441 2 225337188 225337188 C A 285595 single nucleotide variant NM_003590.4(CUL3):c.*1774G>T 13016316 MedGen:CN239441 2 224472471 224472471 C A 285596 deletion NM_003590.4(CUL3):c.*1454_*1456delAAC 756120079 MedGen:CN239441 2 224472789 224472791 GTT - 285596 deletion NM_003590.4(CUL3):c.*1454_*1456delAAC 756120079 MedGen:CN239441 2 225337506 225337508 GTT - 285597 deletion NM_003590.4(CUL3):c.*265_*269delCTGTA 527449132 MedGen:CN239441 2 224473976 224473980 TACAG - 285597 deletion NM_003590.4(CUL3):c.*265_*269delCTGTA 527449132 MedGen:CN239441 2 225338693 225338697 TACAG - 285598 single nucleotide variant NM_003590.4(CUL3):c.*89A>T 192166927 MedGen:CN239441 2 225338873 225338873 T A 285598 single nucleotide variant NM_003590.4(CUL3):c.*89A>T 192166927 MedGen:CN239441 2 224474156 224474156 T A 285604 single nucleotide variant NM_003590.4(CUL3):c.600C>G (p.Val200=) 561338665 MedGen:CN239441 2 225378295 225378295 G C 285604 single nucleotide variant NM_003590.4(CUL3):c.600C>G (p.Val200=) 561338665 MedGen:CN239441 2 224513578 224513578 G C 285612 single nucleotide variant NM_003590.4(CUL3):c.310A>T (p.Thr104Ser) 886055696 MedGen:CN239441 2 225400313 225400313 T A 285612 single nucleotide variant NM_003590.4(CUL3):c.310A>T (p.Thr104Ser) 886055696 MedGen:CN239441 2 224535596 224535596 T A 287888 single nucleotide variant NM_003590.4(CUL3):c.*3991A>G 12470077 MedGen:CN239441 2 224470254 224470254 T C 287888 single nucleotide variant NM_003590.4(CUL3):c.*3991A>G 12470077 MedGen:CN239441 2 225334971 225334971 T C 287890 single nucleotide variant NM_003590.4(CUL3):c.*3753T>C 558805673 MedGen:CN239441 2 225335209 225335209 A G 287890 single nucleotide variant NM_003590.4(CUL3):c.*3753T>C 558805673 MedGen:CN239441 2 224470492 224470492 A G 287893 deletion NM_003590.4(CUL3):c.*3531_*3532delAG 10612010 MedGen:CN239441 2 225335430 225335431 CT - 287893 deletion NM_003590.4(CUL3):c.*3531_*3532delAG 10612010 MedGen:CN239441 2 224470713 224470714 CT - 287895 single nucleotide variant NM_003590.4(CUL3):c.*3392A>G 886055680 MedGen:CN239441 2 225335570 225335570 T C 287895 single nucleotide variant NM_003590.4(CUL3):c.*3392A>G 886055680 MedGen:CN239441 2 224470853 224470853 T C 287908 single nucleotide variant NM_003590.4(CUL3):c.*2945G>C 41529948 MedGen:CN239441 2 225336017 225336017 C G 287908 single nucleotide variant NM_003590.4(CUL3):c.*2945G>C 41529948 MedGen:CN239441 2 224471300 224471300 C G 287920 single nucleotide variant NM_003590.4(CUL3):c.*2854A>G 772430576 MedGen:CN239441 2 224471391 224471391 T C 287920 single nucleotide variant NM_003590.4(CUL3):c.*2854A>G 772430576 MedGen:CN239441 2 225336108 225336108 T C 287924 single nucleotide variant NM_003590.4(CUL3):c.*2469G>C 886055686 MedGen:CN239441 2 224471776 224471776 C G 287924 single nucleotide variant NM_003590.4(CUL3):c.*2469G>C 886055686 MedGen:CN239441 2 225336493 225336493 C G 287926 single nucleotide variant NM_003590.4(CUL3):c.*2073A>G 10498161 MedGen:CN239441 2 224472172 224472172 T C 287926 single nucleotide variant NM_003590.4(CUL3):c.*2073A>G 10498161 MedGen:CN239441 2 225336889 225336889 T C 287927 single nucleotide variant NM_003590.4(CUL3):c.*1518A>T 886055690 MedGen:CN239441 2 224472727 224472727 T A 287927 single nucleotide variant NM_003590.4(CUL3):c.*1518A>T 886055690 MedGen:CN239441 2 225337444 225337444 T A 287928 deletion NM_003590.4(CUL3):c.*1245_*1249delTATTT 144788294 MedGen:CN239441 2 224472996 224473000 AAATA - 287928 deletion NM_003590.4(CUL3):c.*1245_*1249delTATTT 144788294 MedGen:CN239441 2 225337713 225337717 AAATA - 287930 single nucleotide variant NM_003590.4(CUL3):c.*940C>T 3768897 MedGen:CN239441 2 224473305 224473305 G A 287930 single nucleotide variant NM_003590.4(CUL3):c.*940C>T 3768897 MedGen:CN239441 2 225338022 225338022 G A 287931 single nucleotide variant NM_003590.4(CUL3):c.*294A>G 532967850 MedGen:CN239441 2 225338668 225338668 T C 287931 single nucleotide variant NM_003590.4(CUL3):c.*294A>G 532967850 MedGen:CN239441 2 224473951 224473951 T C 287932 single nucleotide variant NM_003590.4(CUL3):c.2052C>T (p.Ser684=) 61743301 MedGen:CN239441 2 225343040 225343040 G A 287932 single nucleotide variant NM_003590.4(CUL3):c.2052C>T (p.Ser684=) 61743301 MedGen:CN239441 2 224478323 224478323 G A 287933 deletion NM_003590.4(CUL3):c.1708-14delT 777017393 MedGen:CN239441 2 225360697 225360697 A - 287933 deletion NM_003590.4(CUL3):c.1708-14delT 777017393 MedGen:CN239441 2 224495980 224495980 A - 287934 single nucleotide variant NM_003590.4(CUL3):c.693A>C (p.Ser231=) 181190157 MedGen:CN239441 2 225376261 225376261 T G 287934 single nucleotide variant NM_003590.4(CUL3):c.693A>C (p.Ser231=) 181190157 MedGen:CN239441 2 224511544 224511544 T G 288133 duplication NM_003590.4(CUL3):c.*3785dupA 886055678 MedGen:CN239441 2 224470460 224470460 T TT 288133 duplication NM_003590.4(CUL3):c.*3785dupA 886055678 MedGen:CN239441 2 225335177 225335177 T TT 288135 single nucleotide variant NM_003590.4(CUL3):c.*3148A>G 17479770 MedGen:CN239441 2 225335814 225335814 T C 288135 single nucleotide variant NM_003590.4(CUL3):c.*3148A>G 17479770 MedGen:CN239441 2 224471097 224471097 T C 288136 single nucleotide variant NM_003590.4(CUL3):c.*3026G>A 748865811 MedGen:CN239441 2 225335936 225335936 C T 288136 single nucleotide variant NM_003590.4(CUL3):c.*3026G>A 748865811 MedGen:CN239441 2 224471219 224471219 C T 288137 single nucleotide variant NM_003590.4(CUL3):c.*2868T>C 886055683 MedGen:CN239441 2 225336094 225336094 A G 288137 single nucleotide variant NM_003590.4(CUL3):c.*2868T>C 886055683 MedGen:CN239441 2 224471377 224471377 A G 288146 single nucleotide variant NM_003590.4(CUL3):c.*2756G>A 886055684 MedGen:CN239441 2 224471489 224471489 C T 288146 single nucleotide variant NM_003590.4(CUL3):c.*2756G>A 886055684 MedGen:CN239441 2 225336206 225336206 C T 288149 single nucleotide variant NM_003590.4(CUL3):c.*2584T>C 886055685 MedGen:CN239441 2 224471661 224471661 A G 288149 single nucleotide variant NM_003590.4(CUL3):c.*2584T>C 886055685 MedGen:CN239441 2 225336378 225336378 A G 288151 single nucleotide variant NM_003590.4(CUL3):c.*2192T>C 3768898 MedGen:CN239441 2 224472053 224472053 A G 288151 single nucleotide variant NM_003590.4(CUL3):c.*2192T>C 3768898 MedGen:CN239441 2 225336770 225336770 A G 288168 duplication NM_003590.4(CUL3):c.*2117dupT 572505388 MedGen:CN239441 2 224472128 224472128 A AA 288168 duplication NM_003590.4(CUL3):c.*2117dupT 572505388 MedGen:CN239441 2 225336845 225336845 A AA 288169 single nucleotide variant NM_003590.4(CUL3):c.*2093A>G 886055689 MedGen:CN239441 2 224472152 224472152 T C 288169 single nucleotide variant NM_003590.4(CUL3):c.*2093A>G 886055689 MedGen:CN239441 2 225336869 225336869 T C 288183 deletion NM_003590.4(CUL3):c.*2037delT 770315174 MedGen:CN239441 2 224472208 224472208 A - 288183 deletion NM_003590.4(CUL3):c.*2037delT 770315174 MedGen:CN239441 2 225336925 225336925 A - 288184 single nucleotide variant NM_003590.4(CUL3):c.*1506G>A 886055691 MedGen:CN239441 2 224472739 224472739 C T 288184 single nucleotide variant NM_003590.4(CUL3):c.*1506G>A 886055691 MedGen:CN239441 2 225337456 225337456 C T 288186 single nucleotide variant NM_003590.4(CUL3):c.*1498C>G 886055692 MedGen:CN239441 2 224472747 224472747 G C 288186 single nucleotide variant NM_003590.4(CUL3):c.*1498C>G 886055692 MedGen:CN239441 2 225337464 225337464 G C 288198 single nucleotide variant NM_003590.4(CUL3):c.*1483C>G 79297951 MedGen:CN239441 2 224472762 224472762 G C 288198 single nucleotide variant NM_003590.4(CUL3):c.*1483C>G 79297951 MedGen:CN239441 2 225337479 225337479 G C 288199 single nucleotide variant NM_003590.4(CUL3):c.*896G>C 141660429 MedGen:CN239441 2 224473349 224473349 C G 288199 single nucleotide variant NM_003590.4(CUL3):c.*896G>C 141660429 MedGen:CN239441 2 225338066 225338066 C G 288200 single nucleotide variant NM_003590.4(CUL3):c.2102A>T (p.His701Leu) 886055695 MedGen:CN239441 2 225342990 225342990 T A 288200 single nucleotide variant NM_003590.4(CUL3):c.2102A>T (p.His701Leu) 886055695 MedGen:CN239441 2 224478273 224478273 T A 288204 single nucleotide variant NM_003590.4(CUL3):c.1581A>T (p.Ala527=) 41373148 MedGen:CN239441 2 225365109 225365109 T A 288204 single nucleotide variant NM_003590.4(CUL3):c.1581A>T (p.Ala527=) 41373148 MedGen:CN239441 2 224500392 224500392 T A 288206 single nucleotide variant NM_003590.4(CUL3):c.304C>A (p.Leu102Ile) 886055697 MedGen:CN239441 2 224535602 224535602 G T 288206 single nucleotide variant NM_003590.4(CUL3):c.304C>A (p.Leu102Ile) 886055697 MedGen:CN239441 2 225400319 225400319 G T

Disease associated variation - GWASdb Chr Pos SNP ID(dbSNP 142) Ref Alt Ori SNP ID P-value Drug Name Drug Anno GWAS Trait HPO ID DO ID AA Type Trait or Drug 2 225439844 rs16866061 A G rs16866061 9.74E-04 Multiple complex diseases HPOID:0000118 NA A intron GWASdb_trait 2 225439844 rs16866061 A G rs16866061 8.70E-06 Serum metabolites HPOID:0011111 NA A intron GWASdb_trait

Disease associated variation - GWAS Central Study Name Source Marker Accession Chromosome Marker Start Marker Stop Alleles Gene Section P-value -log(p-value) GWAS of prostate cancer rs3738952 2 225362478 225362478 exonic 0.980626 0.00849659619402523 GWAS of prostate cancer rs10498162 2 225375894 225375894 intronic 0.964558 0.0156716526000751 GWAS of prostate cancer rs4674910 2 225341625 225341625 intronic 0.907455 0.042174902089365106 GWAS of prostate cancer rs4674919 2 225397170 225397170 intronic 0.697497 0.156457655991637

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000036257.12 CUL3 603136