Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 23112 single nucleotide variant NM_000430.3(PAFAH1B1):c.446A>G (p.His149Arg) 121434482 MedGen:C1843916,OMIM:607432 17 2573503 2573503 A G 23112 single nucleotide variant NM_000430.3(PAFAH1B1):c.446A>G (p.His149Arg) 121434482 MedGen:C1843916,OMIM:607432 17 2670209 2670209 A G 23113 single nucleotide variant NM_000430.3(PAFAH1B1):c.817C>T (p.Arg273Ter) 121434483 MedGen:C1843916,OMIM:607432;MedGen:CN221809 17 2577499 2577499 C T 23113 single nucleotide variant NM_000430.3(PAFAH1B1):c.817C>T (p.Arg273Ter) 121434483 MedGen:C1843916,OMIM:607432;MedGen:CN221809 17 2674205 2674205 C T 23114 deletion PAFAH1B1, 22-BP DEL -1 MedGen:C1843916,OMIM:607432 na -1 -1 na na 23115 single nucleotide variant NM_000430.3(PAFAH1B1):c.505T>C (p.Ser169Pro) 121434484 MedGen:C1848201,Orphanet:ORPHA99796 17 2573562 2573562 T C 23115 single nucleotide variant NM_000430.3(PAFAH1B1):c.505T>C (p.Ser169Pro) 121434484 MedGen:C1848201,Orphanet:ORPHA99796 17 2670268 2670268 T C 23116 single nucleotide variant NM_000430.3(PAFAH1B1):c.949G>C (p.Asp317His) 121434485 MedGen:C1843916,OMIM:607432 17 2579847 2579847 G C 23116 single nucleotide variant NM_000430.3(PAFAH1B1):c.949G>C (p.Asp317His) 121434485 MedGen:C1843916,OMIM:607432 17 2676553 2676553 G C 23117 single nucleotide variant NM_000430.3(PAFAH1B1):c.92T>C (p.Phe31Ser) 121434486 MedGen:C1843916,OMIM:607432 17 2568725 2568725 T C 23117 single nucleotide variant NM_000430.3(PAFAH1B1):c.92T>C (p.Phe31Ser) 121434486 MedGen:C1843916,OMIM:607432 17 2665431 2665431 T C 23118 single nucleotide variant NM_000430.3(PAFAH1B1):c.484G>A (p.Gly162Ser) 121434487 MedGen:C1843916,OMIM:607432 17 2573541 2573541 G A 23118 single nucleotide variant NM_000430.3(PAFAH1B1):c.484G>A (p.Gly162Ser) 121434487 MedGen:C1843916,OMIM:607432 17 2670247 2670247 G A 23119 single nucleotide variant NM_000430.3(PAFAH1B1):c.722G>C (p.Arg241Pro) 121434488 MedGen:C1848201,Orphanet:ORPHA99796 17 2577404 2577404 G C 23119 single nucleotide variant NM_000430.3(PAFAH1B1):c.722G>C (p.Arg241Pro) 121434488 MedGen:C1848201,Orphanet:ORPHA99796 17 2674110 2674110 G C 23120 single nucleotide variant NM_000430.3(PAFAH1B1):c.22C>T (p.Arg8Ter) 121434489 MedGen:C1843916,OMIM:607432;MedGen:C1848201,Orphanet:ORPHA99796 17 2541604 2541604 C T 23120 single nucleotide variant NM_000430.3(PAFAH1B1):c.22C>T (p.Arg8Ter) 121434489 MedGen:C1843916,OMIM:607432;MedGen:C1848201,Orphanet:ORPHA99796 17 2638310 2638310 C T 23121 single nucleotide variant NM_000430.3(PAFAH1B1):c.830A>C (p.His277Pro) 121434490 MedGen:C1843916,OMIM:607432 17 2577512 2577512 A C 23121 single nucleotide variant NM_000430.3(PAFAH1B1):c.830A>C (p.His277Pro) 121434490 MedGen:C1843916,OMIM:607432 17 2674218 2674218 A C 34032 deletion NM_000430.3(PAFAH1B1):c.162delA (p.Lys54Asnfs) 113994198 MedGen:C1843916,OMIM:607432;MedGen:CN221809 17 2666060 2666060 A - 34027 single nucleotide variant NM_000430.3(PAFAH1B1):c.1002+1G>A 113994203 MedGen:C1843916,OMIM:607432 17 2579901 2579901 G A 34027 single nucleotide variant NM_000430.3(PAFAH1B1):c.1002+1G>A 113994203 MedGen:C1843916,OMIM:607432 17 2676607 2676607 G A 34028 deletion NM_000430.3(PAFAH1B1):c.1050delG (p.Lys351Serfs) 113994200 MedGen:C1843916,OMIM:607432;MedGen:CN221809 17 2583505 2583505 G - 34028 deletion NM_000430.3(PAFAH1B1):c.1050delG (p.Lys351Serfs) 113994200 MedGen:C1843916,OMIM:607432;MedGen:CN221809 17 2680211 2680211 G - 34029 duplication NM_000430.3(PAFAH1B1):c.1050dupG (p.Lys351Glufs) 113994201 MedGen:C1843916,OMIM:607432 17 2583505 2583505 G GG 34029 duplication NM_000430.3(PAFAH1B1):c.1050dupG (p.Lys351Glufs) 113994201 MedGen:C1843916,OMIM:607432 17 2680211 2680211 G GG 34032 deletion NM_000430.3(PAFAH1B1):c.162delA (p.Lys54Asnfs) 113994198 MedGen:C1843916,OMIM:607432;MedGen:CN221809 17 2569354 2569354 A - 34033 duplication NM_000430.3(PAFAH1B1):c.162dupA (p.Trp55Metfs) 113994199 MedGen:C1843916,OMIM:607432;MedGen:CN221809 17 2569354 2569354 A AA 34033 duplication NM_000430.3(PAFAH1B1):c.162dupA (p.Trp55Metfs) 113994199 MedGen:C1843916,OMIM:607432;MedGen:CN221809 17 2666060 2666060 A AA 34034 single nucleotide variant NM_000430.3(PAFAH1B1):c.569-10T>C 113994202 MedGen:C1843916,OMIM:607432 17 2575939 2575939 T C 34034 single nucleotide variant NM_000430.3(PAFAH1B1):c.569-10T>C 113994202 MedGen:C1843916,OMIM:607432 17 2672645 2672645 T C 51341 single nucleotide variant NM_000430.3(PAFAH1B1):c.*17C>T 6628 MedGen:C1843916,OMIM:607432;MedGen:CN239259;MedGen:CN169374 17 2585113 2585113 C T 51341 single nucleotide variant NM_000430.3(PAFAH1B1):c.*17C>T 6628 MedGen:C1843916,OMIM:607432;MedGen:CN239259;MedGen:CN169374 17 2681819 2681819 C T 51342 single nucleotide variant NM_000430.3(PAFAH1B1):c.*3G>T 113994197 MedGen:C1843916,OMIM:607432 17 2585099 2585099 G T 51342 single nucleotide variant NM_000430.3(PAFAH1B1):c.*3G>T 113994197 MedGen:C1843916,OMIM:607432 17 2681805 2681805 G T 98903 single nucleotide variant NM_000430.3(PAFAH1B1):c.1059T>C (p.Ile353=) 1803915 MedGen:CN169374 17 2583514 2583514 T C 98903 single nucleotide variant NM_000430.3(PAFAH1B1):c.1059T>C (p.Ile353=) 1803915 MedGen:CN169374 17 2680220 2680220 T C 98904 single nucleotide variant NM_000430.3(PAFAH1B1):c.38G>A (p.Arg13Gln) 374766360 MedGen:CN169374 17 2568671 2568671 G A 98904 single nucleotide variant NM_000430.3(PAFAH1B1):c.38G>A (p.Arg13Gln) 374766360 MedGen:CN169374 17 2665377 2665377 G A 98905 single nucleotide variant NM_000430.3(PAFAH1B1):c.474C>T (p.Phe158=) 116237011 MedGen:CN239259;MedGen:CN169374 17 2573531 2573531 C T 98905 single nucleotide variant NM_000430.3(PAFAH1B1):c.474C>T (p.Phe158=) 116237011 MedGen:CN239259;MedGen:CN169374 17 2670237 2670237 C T 98906 single nucleotide variant NM_000430.3(PAFAH1B1):c.672-10A>C 77153143 MedGen:CN239259;MedGen:CN169374 17 2577344 2577344 A C 98906 single nucleotide variant NM_000430.3(PAFAH1B1):c.672-10A>C 77153143 MedGen:CN239259;MedGen:CN169374 17 2674050 2674050 A C 98907 single nucleotide variant NM_000430.3(PAFAH1B1):c.780A>G (p.Val260=) 150380620 MedGen:C1843916,OMIM:607432;MedGen:CN239259;MedGen:CN169374 17 2577462 2577462 A G 98907 single nucleotide variant NM_000430.3(PAFAH1B1):c.780A>G (p.Val260=) 150380620 MedGen:C1843916,OMIM:607432;MedGen:CN239259;MedGen:CN169374 17 2674168 2674168 A G 157266 copy number gain GRCh38/hg38 17p13.3(chr17:2599570-2624929)x3 -1 - 17 2502864 2528223 na na 157266 copy number gain GRCh38/hg38 17p13.3(chr17:2599570-2624929)x3 -1 - 17 2599570 2624929 na na 157266 copy number gain GRCh38/hg38 17p13.3(chr17:2599570-2624929)x3 -1 - 17 2449614 2474973 na na 158675 copy number loss GRCh38/hg38 17p13.3(chr17:2592886-2609006)x1 -1 - 17 2496180 2512300 na na 158675 copy number loss GRCh38/hg38 17p13.3(chr17:2592886-2609006)x1 -1 - 17 2592886 2609006 na na 158675 copy number loss GRCh38/hg38 17p13.3(chr17:2592886-2609006)x1 -1 - 17 2442930 2459050 na na 164519 copy number gain GRCh38/hg38 17p13.3(chr17:2599583-2624994)x3 -1 - 17 2502877 2528288 na na 164519 copy number gain GRCh38/hg38 17p13.3(chr17:2599583-2624994)x3 -1 - 17 2599583 2624994 na na 164519 copy number gain GRCh38/hg38 17p13.3(chr17:2599583-2624994)x3 -1 - 17 2449627 2475038 na na 169332 single nucleotide variant NM_000430.3(PAFAH1B1):c.3G>A (p.Met1Ile) 587784265 MedGen:C1843916,OMIM:607432 17 2541585 2541585 G A 169332 single nucleotide variant NM_000430.3(PAFAH1B1):c.3G>A (p.Met1Ile) 587784265 MedGen:C1843916,OMIM:607432 17 2638291 2638291 G A 169333 single nucleotide variant NM_000430.3(PAFAH1B1):c.33-3C>T 587784260 MedGen:C1843916,OMIM:607432 17 2568663 2568663 C T 169333 single nucleotide variant NM_000430.3(PAFAH1B1):c.33-3C>T 587784260 MedGen:C1843916,OMIM:607432 17 2665369 2665369 C T 169334 single nucleotide variant NM_000430.3(PAFAH1B1):c.37C>T (p.Arg13Ter) 587784262 MedGen:C1843916,OMIM:607432 17 2568670 2568670 C T 169334 single nucleotide variant NM_000430.3(PAFAH1B1):c.37C>T (p.Arg13Ter) 587784262 MedGen:C1843916,OMIM:607432 17 2665376 2665376 C T 169335 single nucleotide variant NM_000430.3(PAFAH1B1):c.56T>G (p.Leu19Arg) 587784272 MedGen:C1843916,OMIM:607432 17 2568689 2568689 T G 169335 single nucleotide variant NM_000430.3(PAFAH1B1):c.56T>G (p.Leu19Arg) 587784272 MedGen:C1843916,OMIM:607432 17 2665395 2665395 T G 169336 single nucleotide variant NM_000430.3(PAFAH1B1):c.72T>G (p.Tyr24Ter) 587784285 MedGen:C1843916,OMIM:607432 17 2568705 2568705 T G 169336 single nucleotide variant NM_000430.3(PAFAH1B1):c.72T>G (p.Tyr24Ter) 587784285 MedGen:C1843916,OMIM:607432 17 2665411 2665411 T G 169337 single nucleotide variant NM_000430.3(PAFAH1B1):c.84T>G (p.Tyr28Ter) 369259961 MedGen:C1843916,OMIM:607432 17 2568717 2568717 T G 169337 single nucleotide variant NM_000430.3(PAFAH1B1):c.84T>G (p.Tyr28Ter) 369259961 MedGen:C1843916,OMIM:607432 17 2665423 2665423 T G 169338 single nucleotide variant NM_000430.3(PAFAH1B1):c.121G>A (p.Glu41Lys) 587784250 MedGen:C1843916,OMIM:607432 17 2569313 2569313 G A 169338 single nucleotide variant NM_000430.3(PAFAH1B1):c.121G>A (p.Glu41Lys) 587784250 MedGen:C1843916,OMIM:607432 17 2666019 2666019 G A 169339 deletion NM_000430.3(PAFAH1B1):c.136_137delAA (p.Lys46Valfs) 587784252 MedGen:C1843916,OMIM:607432 17 2569328 2569329 AA - 169339 deletion NM_000430.3(PAFAH1B1):c.136_137delAA (p.Lys46Valfs) 587784252 MedGen:C1843916,OMIM:607432 17 2666034 2666035 AA - 169340 deletion NM_000430.3(PAFAH1B1):c.152delT (p.Leu51Trpfs) 587784253 MedGen:C1843916,OMIM:607432 17 2569344 2569344 T - 169340 deletion NM_000430.3(PAFAH1B1):c.152delT (p.Leu51Trpfs) 587784253 MedGen:C1843916,OMIM:607432 17 2666050 2666050 T - 169341 single nucleotide variant NM_000430.3(PAFAH1B1):c.163T>A (p.Trp55Arg) 587784254 MedGen:C1843916,OMIM:607432 17 2569355 2569355 T A 169341 single nucleotide variant NM_000430.3(PAFAH1B1):c.163T>A (p.Trp55Arg) 587784254 MedGen:C1843916,OMIM:607432 17 2666061 2666061 T A 169342 single nucleotide variant NM_000430.3(PAFAH1B1):c.192G>C (p.Lys64Asn) 587784257 MedGen:C1843916,OMIM:607432 17 2569384 2569384 G C 169342 single nucleotide variant NM_000430.3(PAFAH1B1):c.192G>C (p.Lys64Asn) 587784257 MedGen:C1843916,OMIM:607432 17 2666090 2666090 G C 169343 single nucleotide variant NM_000430.3(PAFAH1B1):c.192+1G>A 587784256 MedGen:C1843916,OMIM:607432 17 2569385 2569385 G A 169343 single nucleotide variant NM_000430.3(PAFAH1B1):c.192+1G>A 587784256 MedGen:C1843916,OMIM:607432 17 2666091 2666091 G A 169344 single nucleotide variant NM_000430.3(PAFAH1B1):c.192+1G>T 587784256 MedGen:C1843916,OMIM:607432 17 2666091 2666091 G T 169344 single nucleotide variant NM_000430.3(PAFAH1B1):c.192+1G>T 587784256 MedGen:C1843916,OMIM:607432 17 2569385 2569385 G T 169345 single nucleotide variant NM_000430.3(PAFAH1B1):c.192+15T>C 587784255 MedGen:C1843916,OMIM:607432 17 2666105 2666105 T C 169345 single nucleotide variant NM_000430.3(PAFAH1B1):c.192+15T>C 587784255 MedGen:C1843916,OMIM:607432 17 2569399 2569399 T C 169346 single nucleotide variant NM_000430.3(PAFAH1B1):c.265C>T (p.Arg89Ter) 587784258 MedGen:C1843916,OMIM:607432 17 2667064 2667064 C T 169346 single nucleotide variant NM_000430.3(PAFAH1B1):c.265C>T (p.Arg89Ter) 587784258 MedGen:C1843916,OMIM:607432 17 2570358 2570358 C T 169347 duplication NM_000430.3(PAFAH1B1):c.305dupA (p.Tyr102Terfs) 587784259 MedGen:C1843916,OMIM:607432 17 2667104 2667104 A AA 169347 duplication NM_000430.3(PAFAH1B1):c.305dupA (p.Tyr102Terfs) 587784259 MedGen:C1843916,OMIM:607432 17 2570398 2570398 A AA 169348 single nucleotide variant NM_000430.3(PAFAH1B1):c.371T>A (p.Val124Asp) 587784261 MedGen:C1843916,OMIM:607432 17 2570464 2570464 T A 169348 single nucleotide variant NM_000430.3(PAFAH1B1):c.371T>A (p.Val124Asp) 587784261 MedGen:C1843916,OMIM:607432 17 2667170 2667170 T A 169349 single nucleotide variant NM_000430.3(PAFAH1B1):c.386A>T (p.Asp129Val) 587784263 MedGen:C1843916,OMIM:607432 17 2570479 2570479 A T 169349 single nucleotide variant NM_000430.3(PAFAH1B1):c.386A>T (p.Asp129Val) 587784263 MedGen:C1843916,OMIM:607432 17 2667185 2667185 A T 169350 single nucleotide variant NM_000430.3(PAFAH1B1):c.387T>C (p.Asp129=) 140936904 MedGen:CN239259;MedGen:CN169374 17 2570480 2570480 T C 169350 single nucleotide variant NM_000430.3(PAFAH1B1):c.387T>C (p.Asp129=) 140936904 MedGen:CN239259;MedGen:CN169374 17 2667186 2667186 T C 169351 single nucleotide variant NM_000430.3(PAFAH1B1):c.399+1G>A 587784264 MedGen:C1843916,OMIM:607432 17 2570493 2570493 G A 169351 single nucleotide variant NM_000430.3(PAFAH1B1):c.399+1G>A 587784264 MedGen:C1843916,OMIM:607432 17 2667199 2667199 G A 169352 single nucleotide variant NM_000430.3(PAFAH1B1):c.405G>A (p.Trp135Ter) 587784266 MedGen:C1843916,OMIM:607432 17 2573462 2573462 G A 169352 single nucleotide variant NM_000430.3(PAFAH1B1):c.405G>A (p.Trp135Ter) 587784266 MedGen:C1843916,OMIM:607432 17 2670168 2670168 G A 169353 single nucleotide variant NM_000430.3(PAFAH1B1):c.430C>T (p.Arg144Ter) 587784267 MedGen:C1843916,OMIM:607432;MedGen:CN221809 17 2573487 2573487 C T 169353 single nucleotide variant NM_000430.3(PAFAH1B1):c.430C>T (p.Arg144Ter) 587784267 MedGen:C1843916,OMIM:607432;MedGen:CN221809 17 2670193 2670193 C T 169354 deletion NM_000430.3(PAFAH1B1):c.455_456delCT (p.Ser152Cysfs) 587784268 MedGen:C1843916,OMIM:607432 17 2573512 2573513 CT - 169354 deletion NM_000430.3(PAFAH1B1):c.455_456delCT (p.Ser152Cysfs) 587784268 MedGen:C1843916,OMIM:607432 17 2670218 2670219 CT - 169355 single nucleotide variant NM_000430.3(PAFAH1B1):c.460C>T (p.Gln154Ter) 587784269 MedGen:C1843916,OMIM:607432 17 2573517 2573517 C T 169355 single nucleotide variant NM_000430.3(PAFAH1B1):c.460C>T (p.Gln154Ter) 587784269 MedGen:C1843916,OMIM:607432 17 2670223 2670223 C T 169356 single nucleotide variant NM_000430.3(PAFAH1B1):c.503G>A (p.Cys168Tyr) 200390886 MedGen:C1843916,OMIM:607432 17 2573560 2573560 G A 169356 single nucleotide variant NM_000430.3(PAFAH1B1):c.503G>A (p.Cys168Tyr) 200390886 MedGen:C1843916,OMIM:607432 17 2670266 2670266 G A 169357 deletion NM_000430.3(PAFAH1B1):c.524_528delAACTA (p.Lys175Metfs) 587784270 MedGen:C1843916,OMIM:607432 17 2573581 2573585 AACTA - 169357 deletion NM_000430.3(PAFAH1B1):c.524_528delAACTA (p.Lys175Metfs) 587784270 MedGen:C1843916,OMIM:607432 17 2670287 2670291 AACTA - 169358 deletion NM_000430.3(PAFAH1B1):c.537delT (p.Gln180Argfs) 587784271 MedGen:C1843916,OMIM:607432 17 2573594 2573594 T - 169358 deletion NM_000430.3(PAFAH1B1):c.537delT (p.Gln180Argfs) 587784271 MedGen:C1843916,OMIM:607432 17 2670300 2670300 T - 169359 single nucleotide variant NM_000430.3(PAFAH1B1):c.568+27C>T 3213696 MedGen:CN169374 17 2573652 2573652 C T 169359 single nucleotide variant NM_000430.3(PAFAH1B1):c.568+27C>T 3213696 MedGen:CN169374 17 2670358 2670358 C T 169360 single nucleotide variant NM_000430.3(PAFAH1B1):c.632C>G (p.Ser211Ter) 587784273 MedGen:C1843916,OMIM:607432 17 2672718 2672718 C G 169360 single nucleotide variant NM_000430.3(PAFAH1B1):c.632C>G (p.Ser211Ter) 587784273 MedGen:C1843916,OMIM:607432 17 2576012 2576012 C G 169361 deletion NM_000430.3(PAFAH1B1):c.644_651delCTATAAAA (p.Thr215Asnfs) 587784274 MedGen:C1843916,OMIM:607432 17 2672730 2672737 CTATAAAA - 169361 deletion NM_000430.3(PAFAH1B1):c.644_651delCTATAAAA (p.Thr215Asnfs) 587784274 MedGen:C1843916,OMIM:607432 17 2576024 2576031 CTATAAAA - 169362 deletion NM_000430.3(PAFAH1B1):c.647_648delTA (p.Ile216Lysfs) 587784275 MedGen:C1843916,OMIM:607432 17 2672733 2672734 TA - 169362 deletion NM_000430.3(PAFAH1B1):c.647_648delTA (p.Ile216Lysfs) 587784275 MedGen:C1843916,OMIM:607432 17 2576027 2576028 TA - 169363 single nucleotide variant NM_000430.3(PAFAH1B1):c.657G>A (p.Trp219Ter) 587784276 MedGen:C1843916,OMIM:607432 17 2672743 2672743 G A 169363 single nucleotide variant NM_000430.3(PAFAH1B1):c.657G>A (p.Trp219Ter) 587784276 MedGen:C1843916,OMIM:607432 17 2576037 2576037 G A 169364 deletion NM_000430.3(PAFAH1B1):c.658delG (p.Glu220Lysfs) 587784277 MedGen:C1843916,OMIM:607432 17 2672744 2672744 G - 169364 deletion NM_000430.3(PAFAH1B1):c.658delG (p.Glu220Lysfs) 587784277 MedGen:C1843916,OMIM:607432 17 2576038 2576038 G - 169365 single nucleotide variant NM_000430.3(PAFAH1B1):c.664C>T (p.Gln222Ter) 587784278 MedGen:C1843916,OMIM:607432 17 2576044 2576044 C T 169365 single nucleotide variant NM_000430.3(PAFAH1B1):c.664C>T (p.Gln222Ter) 587784278 MedGen:C1843916,OMIM:607432 17 2672750 2672750 C T 169366 single nucleotide variant NM_000430.3(PAFAH1B1):c.671G>A (p.Gly224Asp) 587784281 MedGen:C1843916,OMIM:607432 17 2576051 2576051 G A 169366 single nucleotide variant NM_000430.3(PAFAH1B1):c.671G>A (p.Gly224Asp) 587784281 MedGen:C1843916,OMIM:607432 17 2672757 2672757 G A 169367 single nucleotide variant NM_000430.3(PAFAH1B1):c.671+4A>G 587784279 MedGen:C1843916,OMIM:607432 17 2576055 2576055 A G 169367 single nucleotide variant NM_000430.3(PAFAH1B1):c.671+4A>G 587784279 MedGen:C1843916,OMIM:607432 17 2672761 2672761 A G 169368 single nucleotide variant NM_000430.3(PAFAH1B1):c.671+5G>A 587784280 MedGen:C1843916,OMIM:607432 17 2576056 2576056 G A 169368 single nucleotide variant NM_000430.3(PAFAH1B1):c.671+5G>A 587784280 MedGen:C1843916,OMIM:607432 17 2672762 2672762 G A 169369 single nucleotide variant NM_000430.3(PAFAH1B1):c.675C>G (p.Tyr225Ter) 587784282 MedGen:C1843916,OMIM:607432 17 2577357 2577357 C G 169369 single nucleotide variant NM_000430.3(PAFAH1B1):c.675C>G (p.Tyr225Ter) 587784282 MedGen:C1843916,OMIM:607432 17 2674063 2674063 C G 169370 single nucleotide variant NM_000430.3(PAFAH1B1):c.687A>T (p.Thr229=) 587784283 MedGen:C1843916,OMIM:607432 17 2577369 2577369 A T 169370 single nucleotide variant NM_000430.3(PAFAH1B1):c.687A>T (p.Thr229=) 587784283 MedGen:C1843916,OMIM:607432 17 2674075 2674075 A T 169371 single nucleotide variant NM_000430.3(PAFAH1B1):c.693A>T (p.Thr231=) 2228614 MedGen:CN239259;MedGen:CN169374 17 2577375 2577375 A T 169371 single nucleotide variant NM_000430.3(PAFAH1B1):c.693A>T (p.Thr231=) 2228614 MedGen:CN239259;MedGen:CN169374 17 2674081 2674081 A T 169372 duplication NM_000430.3(PAFAH1B1):c.716dupT (p.Met239Ilefs) 587784284 MedGen:C1843916,OMIM:607432 17 2577398 2577398 T TT 169372 duplication NM_000430.3(PAFAH1B1):c.716dupT (p.Met239Ilefs) 587784284 MedGen:C1843916,OMIM:607432 17 2674104 2674104 T TT 169373 single nucleotide variant NM_000430.3(PAFAH1B1):c.730C>T (p.Gln244Ter) 587784286 MedGen:C1843916,OMIM:607432 17 2577412 2577412 C T 169373 single nucleotide variant NM_000430.3(PAFAH1B1):c.730C>T (p.Gln244Ter) 587784286 MedGen:C1843916,OMIM:607432 17 2674118 2674118 C T 169374 single nucleotide variant NM_000430.3(PAFAH1B1):c.751A>C (p.Ser251Arg) 587784287 MedGen:C1843916,OMIM:607432 17 2577433 2577433 A C 169374 single nucleotide variant NM_000430.3(PAFAH1B1):c.751A>C (p.Ser251Arg) 587784287 MedGen:C1843916,OMIM:607432 17 2674139 2674139 A C 169375 single nucleotide variant NM_000430.3(PAFAH1B1):c.841T>C (p.Cys281Arg) 587784288 MedGen:C1843916,OMIM:607432 17 2577523 2577523 T C 169375 single nucleotide variant NM_000430.3(PAFAH1B1):c.841T>C (p.Cys281Arg) 587784288 MedGen:C1843916,OMIM:607432 17 2674229 2674229 T C 169376 single nucleotide variant NM_000430.3(PAFAH1B1):c.851G>A (p.Trp284Ter) 587784289 MedGen:C1843916,OMIM:607432 17 2577533 2577533 G A 169376 single nucleotide variant NM_000430.3(PAFAH1B1):c.851G>A (p.Trp284Ter) 587784289 MedGen:C1843916,OMIM:607432 17 2674239 2674239 G A 169377 single nucleotide variant NM_000430.3(PAFAH1B1):c.900G>A (p.Glu300=) 587784291 MedGen:C1843916,OMIM:607432 17 2674288 2674288 G A 169377 single nucleotide variant NM_000430.3(PAFAH1B1):c.900G>A (p.Glu300=) 587784291 MedGen:C1843916,OMIM:607432 17 2577582 2577582 G A 169378 single nucleotide variant NM_000430.3(PAFAH1B1):c.900+1G>A 587784290 MedGen:C1843916,OMIM:607432 17 2674289 2674289 G A 169378 single nucleotide variant NM_000430.3(PAFAH1B1):c.900+1G>A 587784290 MedGen:C1843916,OMIM:607432 17 2577583 2577583 G A 169379 deletion NM_000430.3(PAFAH1B1):c.910delA (p.Ser304Valfs) 587784292 MedGen:C1843916,OMIM:607432 17 2676514 2676514 A - 169379 deletion NM_000430.3(PAFAH1B1):c.910delA (p.Ser304Valfs) 587784292 MedGen:C1843916,OMIM:607432 17 2579808 2579808 A - 169380 single nucleotide variant NM_000430.3(PAFAH1B1):c.938C>T (p.Ser313Phe) 587784293 MedGen:C1843916,OMIM:607432 17 2676542 2676542 C T 169380 single nucleotide variant NM_000430.3(PAFAH1B1):c.938C>T (p.Ser313Phe) 587784293 MedGen:C1843916,OMIM:607432 17 2579836 2579836 C T 169381 single nucleotide variant NM_000430.3(PAFAH1B1):c.965T>G (p.Met322Arg) 587784294 MedGen:C1843916,OMIM:607432 17 2579863 2579863 T G 169381 single nucleotide variant NM_000430.3(PAFAH1B1):c.965T>G (p.Met322Arg) 587784294 MedGen:C1843916,OMIM:607432 17 2676569 2676569 T G 169382 single nucleotide variant NM_000430.3(PAFAH1B1):c.1002C>T (p.Leu334=) 199648962 MedGen:CN169374 17 2579900 2579900 C T 169382 single nucleotide variant NM_000430.3(PAFAH1B1):c.1002C>T (p.Leu334=) 199648962 MedGen:CN169374 17 2676606 2676606 C T 169383 single nucleotide variant NM_000430.3(PAFAH1B1):c.1002+5G>A 587784235 MedGen:C1843916,OMIM:607432 17 2579905 2579905 G A 169383 single nucleotide variant NM_000430.3(PAFAH1B1):c.1002+5G>A 587784235 MedGen:C1843916,OMIM:607432 17 2676611 2676611 G A 169384 single nucleotide variant NM_000430.3(PAFAH1B1):c.1009C>G (p.His337Asp) 587784236 MedGen:C1843916,OMIM:607432 17 2583464 2583464 C G 169384 single nucleotide variant NM_000430.3(PAFAH1B1):c.1009C>G (p.His337Asp) 587784236 MedGen:C1843916,OMIM:607432 17 2680170 2680170 C G 169385 single nucleotide variant NM_000430.3(PAFAH1B1):c.1009C>T (p.His337Tyr) 587784236 MedGen:C1843916,OMIM:607432 17 2583464 2583464 C T 169385 single nucleotide variant NM_000430.3(PAFAH1B1):c.1009C>T (p.His337Tyr) 587784236 MedGen:C1843916,OMIM:607432 17 2680170 2680170 C T 169386 deletion NM_000430.3(PAFAH1B1):c.1024_1031delCGTGGAGT (p.Arg342Serfs) 587784237 MedGen:C1843916,OMIM:607432 17 2583479 2583486 CGTGGAGT - 169386 deletion NM_000430.3(PAFAH1B1):c.1024_1031delCGTGGAGT (p.Arg342Serfs) 587784237 MedGen:C1843916,OMIM:607432 17 2680185 2680192 CGTGGAGT - 169387 deletion NM_000430.3(PAFAH1B1):c.1063delA (p.Ser355Valfs) 587784238 MedGen:C1843916,OMIM:607432 17 2583518 2583518 A - 169387 deletion NM_000430.3(PAFAH1B1):c.1063delA (p.Ser355Valfs) 587784238 MedGen:C1843916,OMIM:607432 17 2680224 2680224 A - 169388 single nucleotide variant NM_000430.3(PAFAH1B1):c.1064G>A (p.Ser355Asn) 587784239 MedGen:C1843916,OMIM:607432 17 2583519 2583519 G A 169388 single nucleotide variant NM_000430.3(PAFAH1B1):c.1064G>A (p.Ser355Asn) 587784239 MedGen:C1843916,OMIM:607432 17 2680225 2680225 G A 169389 deletion NM_000430.3(PAFAH1B1):c.1100delA (p.Tyr367Serfs) 587784240 MedGen:C1843916,OMIM:607432 17 2583555 2583555 A - 169389 deletion NM_000430.3(PAFAH1B1):c.1100delA (p.Tyr367Serfs) 587784240 MedGen:C1843916,OMIM:607432 17 2680261 2680261 A - 169390 single nucleotide variant NM_000430.3(PAFAH1B1):c.1111C>T (p.Arg371Ter) 587784241 MedGen:C1843916,OMIM:607432 17 2583566 2583566 C T 169390 single nucleotide variant NM_000430.3(PAFAH1B1):c.1111C>T (p.Arg371Ter) 587784241 MedGen:C1843916,OMIM:607432 17 2680272 2680272 C T 169391 single nucleotide variant NM_000430.3(PAFAH1B1):c.1135C>T (p.His379Tyr) 587784242 MedGen:C1843916,OMIM:607432 17 2583590 2583590 C T 169391 single nucleotide variant NM_000430.3(PAFAH1B1):c.1135C>T (p.His379Tyr) 587784242 MedGen:C1843916,OMIM:607432 17 2680296 2680296 C T 169392 single nucleotide variant NM_000430.3(PAFAH1B1):c.1159G>T (p.Asp387Tyr) 587784244 MedGen:C1843916,OMIM:607432 17 2583614 2583614 G T 169392 single nucleotide variant NM_000430.3(PAFAH1B1):c.1159G>T (p.Asp387Tyr) 587784244 MedGen:C1843916,OMIM:607432 17 2680320 2680320 G T 169393 single nucleotide variant NM_000430.3(PAFAH1B1):c.1159+2T>A 587784243 MedGen:C1843916,OMIM:607432 17 2583616 2583616 T A 169393 single nucleotide variant NM_000430.3(PAFAH1B1):c.1159+2T>A 587784243 MedGen:C1843916,OMIM:607432 17 2680322 2680322 T A 169394 single nucleotide variant NM_000430.3(PAFAH1B1):c.1165C>T (p.His389Tyr) 587784245 MedGen:C1843916,OMIM:607432 17 2681734 2681734 C T 169394 single nucleotide variant NM_000430.3(PAFAH1B1):c.1165C>T (p.His389Tyr) 587784245 MedGen:C1843916,OMIM:607432 17 2585028 2585028 C T 169395 single nucleotide variant NM_000430.3(PAFAH1B1):c.1188C>T (p.Val396=) 587784246 MedGen:C1843916,OMIM:607432 17 2681757 2681757 C T 169395 single nucleotide variant NM_000430.3(PAFAH1B1):c.1188C>T (p.Val396=) 587784246 MedGen:C1843916,OMIM:607432 17 2585051 2585051 C T 169396 single nucleotide variant NM_000430.3(PAFAH1B1):c.1193G>A (p.Gly398Asp) 587784247 MedGen:C1843916,OMIM:607432 17 2681762 2681762 G A 169396 single nucleotide variant NM_000430.3(PAFAH1B1):c.1193G>A (p.Gly398Asp) 587784247 MedGen:C1843916,OMIM:607432 17 2585056 2585056 G A 169397 single nucleotide variant NM_000430.3(PAFAH1B1):c.1196G>C (p.Ser399Thr) 587784248 MedGen:C1843916,OMIM:607432 17 2681765 2681765 G C 169397 single nucleotide variant NM_000430.3(PAFAH1B1):c.1196G>C (p.Ser399Thr) 587784248 MedGen:C1843916,OMIM:607432 17 2585059 2585059 G C 169398 single nucleotide variant NM_000430.3(PAFAH1B1):c.1201G>C (p.Asp401His) 587784249 MedGen:C1843916,OMIM:607432 17 2585064 2585064 G C 169398 single nucleotide variant NM_000430.3(PAFAH1B1):c.1201G>C (p.Asp401His) 587784249 MedGen:C1843916,OMIM:607432 17 2681770 2681770 G C 169399 single nucleotide variant NM_000430.3(PAFAH1B1):c.1233A>C (p.Ter411Cys) 587784251 MedGen:C1843916,OMIM:607432 17 2585096 2585096 A C 169399 single nucleotide variant NM_000430.3(PAFAH1B1):c.1233A>C (p.Ter411Cys) 587784251 MedGen:C1843916,OMIM:607432 17 2681802 2681802 A C 193432 single nucleotide variant NM_000430.3(PAFAH1B1):c.112G>A (p.Asp38Asn) 767670214 MedGen:CN169374 17 2568745 2568745 G A 193432 single nucleotide variant NM_000430.3(PAFAH1B1):c.112G>A (p.Asp38Asn) 767670214 MedGen:CN169374 17 2665451 2665451 G A 195582 single nucleotide variant NM_000430.3(PAFAH1B1):c.569-4T>G 765106555 MedGen:CN169374 17 2575945 2575945 T G 195582 single nucleotide variant NM_000430.3(PAFAH1B1):c.569-4T>G 765106555 MedGen:CN169374 17 2672651 2672651 T G 196180 single nucleotide variant NM_000430.3(PAFAH1B1):c.958A>G (p.Ile320Val) 144659773 MedGen:CN239259;MedGen:CN169374 17 2579856 2579856 A G 196180 single nucleotide variant NM_000430.3(PAFAH1B1):c.958A>G (p.Ile320Val) 144659773 MedGen:CN239259;MedGen:CN169374 17 2676562 2676562 A G 196181 deletion NM_000430.3(PAFAH1B1):c.907_910delAAAA (p.Lys303Valfs) 794727958 MedGen:C1843916,OMIM:607432 17 2579805 2579808 AAAA - 196181 deletion NM_000430.3(PAFAH1B1):c.907_910delAAAA (p.Lys303Valfs) 794727958 MedGen:C1843916,OMIM:607432 17 2676511 2676514 AAAA - 198639 single nucleotide variant NM_000430.3(PAFAH1B1):c.818G>A (p.Arg273Gln) 794729199 MedGen:C1843916,OMIM:607432 17 2577500 2577500 G A 198639 single nucleotide variant NM_000430.3(PAFAH1B1):c.818G>A (p.Arg273Gln) 794729199 MedGen:C1843916,OMIM:607432 17 2674206 2674206 G A 205783 single nucleotide variant NM_000430.3(PAFAH1B1):c.523A>T (p.Lys175Ter) 797045061 MedGen:C1843916,OMIM:607432 17 2573580 2573580 A T 205783 single nucleotide variant NM_000430.3(PAFAH1B1):c.523A>T (p.Lys175Ter) 797045061 MedGen:C1843916,OMIM:607432 17 2670286 2670286 A T 208371 single nucleotide variant NM_000430.3(PAFAH1B1):c.33-3C>G 587784260 MedGen:CN169374 17 2568663 2568663 C G 208371 single nucleotide variant NM_000430.3(PAFAH1B1):c.33-3C>G 587784260 MedGen:CN169374 17 2665369 2665369 C G 208372 duplication NM_000430.3(PAFAH1B1):c.71_72dupAT (p.Glu25Metfs) 797045866 MedGen:C1843916,OMIM:607432 17 2568704 2568705 AT ATAT 208372 duplication NM_000430.3(PAFAH1B1):c.71_72dupAT (p.Glu25Metfs) 797045866 MedGen:C1843916,OMIM:607432 17 2665410 2665411 AT ATAT 208373 duplication NM_000430.3(PAFAH1B1):c.190_192+5dup 797045857 MedGen:C1843916,OMIM:607432 17 2569382 2569389 AAGGTAAC AAGGTAACAAGGTAAC 208373 duplication NM_000430.3(PAFAH1B1):c.190_192+5dup 797045857 MedGen:C1843916,OMIM:607432 17 2666088 2666095 AAGGTAAC AAGGTAACAAGGTAAC 208374 duplication NM_000430.3(PAFAH1B1):c.288_289dupCC (p.Arg97Profs) 797045858 MedGen:C1843916,OMIM:607432 17 2667087 2667088 CC CCCC 208374 duplication NM_000430.3(PAFAH1B1):c.288_289dupCC (p.Arg97Profs) 797045858 MedGen:C1843916,OMIM:607432 17 2570381 2570382 CC CCCC 208375 duplication NM_000430.3(PAFAH1B1):c.347dupT (p.His117Profs) 797045859 MedGen:C1843916,OMIM:607432 17 2570440 2570440 T TT 208375 duplication NM_000430.3(PAFAH1B1):c.347dupT (p.His117Profs) 797045859 MedGen:C1843916,OMIM:607432 17 2667146 2667146 T TT 208376 single nucleotide variant NM_000430.3(PAFAH1B1):c.350A>G (p.His117Arg) 797045860 MedGen:CN169374 17 2570443 2570443 A G 208376 single nucleotide variant NM_000430.3(PAFAH1B1):c.350A>G (p.His117Arg) 797045860 MedGen:CN169374 17 2667149 2667149 A G 208377 duplication NM_000430.3(PAFAH1B1):c.441dupA (p.Gly148Argfs) 797045861 MedGen:C1843916,OMIM:607432 17 2573498 2573498 A AA 208377 duplication NM_000430.3(PAFAH1B1):c.441dupA (p.Gly148Argfs) 797045861 MedGen:C1843916,OMIM:607432 17 2670204 2670204 A AA 208378 duplication NM_000430.3(PAFAH1B1):c.537dupT (p.Gln180Serfs) 797045862 MedGen:C1843916,OMIM:607432 17 2573594 2573594 T TT 208378 duplication NM_000430.3(PAFAH1B1):c.537dupT (p.Gln180Serfs) 797045862 MedGen:C1843916,OMIM:607432 17 2670300 2670300 T TT 208379 deletion NM_000430.3(PAFAH1B1):c.569-3delT 797045863 MedGen:C1843916,OMIM:607432 17 2575946 2575946 T - 208379 deletion NM_000430.3(PAFAH1B1):c.569-3delT 797045863 MedGen:C1843916,OMIM:607432 17 2672652 2672652 T - 208380 duplication NM_000430.3(PAFAH1B1):c.667dupA (p.Thr223Asnfs) 797045864 MedGen:C1843916,OMIM:607432 17 2672753 2672753 A AA 208380 duplication NM_000430.3(PAFAH1B1):c.667dupA (p.Thr223Asnfs) 797045864 MedGen:C1843916,OMIM:607432 17 2576047 2576047 A AA 208381 deletion NM_000430.3(PAFAH1B1):c.702_703delAG (p.Glu235Metfs) 797045865 MedGen:C1843916,OMIM:607432 17 2674090 2674091 AG - 208381 deletion NM_000430.3(PAFAH1B1):c.702_703delAG (p.Glu235Metfs) 797045865 MedGen:C1843916,OMIM:607432 17 2577384 2577385 AG - 208382 duplication NM_000430.3(PAFAH1B1):c.728_732dupATCAA (p.Asp245Ilefs) 797045867 MedGen:C1843916,OMIM:607432 17 2577410 2577414 ATCAA ATCAAATCAA 208382 duplication NM_000430.3(PAFAH1B1):c.728_732dupATCAA (p.Asp245Ilefs) 797045867 MedGen:C1843916,OMIM:607432 17 2674116 2674120 ATCAA ATCAAATCAA 208383 indel NM_000430.3(PAFAH1B1):c.770_772delCTGinsTGACCCA (p.Thr257Metfs) 797045868 MedGen:C1843916,OMIM:607432 17 2577452 2577454 CTG TGACCCA 208383 indel NM_000430.3(PAFAH1B1):c.770_772delCTGinsTGACCCA (p.Thr257Metfs) 797045868 MedGen:C1843916,OMIM:607432 17 2674158 2674160 CTG TGACCCA 208384 deletion NM_000430.3(PAFAH1B1):c.771_772delTG (p.Val258Alafs) 797045869 MedGen:C1843916,OMIM:607432 17 2674159 2674160 TG - 208384 deletion NM_000430.3(PAFAH1B1):c.771_772delTG (p.Val258Alafs) 797045869 MedGen:C1843916,OMIM:607432 17 2577453 2577454 TG - 208385 duplication NM_000430.3(PAFAH1B1):c.829dupC (p.His277Profs) 797045870 MedGen:C1843916,OMIM:607432 17 2674217 2674217 C CC 208385 duplication NM_000430.3(PAFAH1B1):c.829dupC (p.His277Profs) 797045870 MedGen:C1843916,OMIM:607432 17 2577511 2577511 C CC 208386 deletion NM_000430.3(PAFAH1B1):c.911delG (p.Ser304Metfs) 797045871 MedGen:C1843916,OMIM:607432 17 2676515 2676515 G - 208386 deletion NM_000430.3(PAFAH1B1):c.911delG (p.Ser304Metfs) 797045871 MedGen:C1843916,OMIM:607432 17 2579809 2579809 G - 208387 duplication NM_000430.3(PAFAH1B1):c.933dupG (p.Leu312Alafs) 797045872 MedGen:C1843916,OMIM:607432 17 2676537 2676537 G GG 208387 duplication NM_000430.3(PAFAH1B1):c.933dupG (p.Leu312Alafs) 797045872 MedGen:C1843916,OMIM:607432 17 2579831 2579831 G GG 208388 deletion NM_000430.3(PAFAH1B1):c.1003-30_1032del -1 MedGen:C1843916,OMIM:607432 17 2583428 2583487 na na 208388 deletion NM_000430.3(PAFAH1B1):c.1003-30_1032del -1 MedGen:C1843916,OMIM:607432 17 2680134 2680193 na na 208389 duplication NM_000430.3(PAFAH1B1):c.1018dupT (p.Trp340Leufs) 797045855 MedGen:C1843916,OMIM:607432 17 2680179 2680179 T TT 208389 duplication NM_000430.3(PAFAH1B1):c.1018dupT (p.Trp340Leufs) 797045855 MedGen:C1843916,OMIM:607432 17 2583473 2583473 T TT 247868 copy number loss NC_000017.10:g.(?_2496180)_(2498568_?)del -1 - 17 2496180 2498568 na na 247986 copy number loss NC_000017.10:g.(?_2497629)_(2585485_?)del -1 - 17 2497629 2585485 na na 256104 single nucleotide variant NM_000430.3(PAFAH1B1):c.118-14T>C 147692085 MedGen:CN239259;MedGen:CN169374 17 2666002 2666002 T C 256104 single nucleotide variant NM_000430.3(PAFAH1B1):c.118-14T>C 147692085 MedGen:CN239259;MedGen:CN169374 17 2569296 2569296 T C 256105 single nucleotide variant NM_000430.3(PAFAH1B1):c.192+43T>C 75468446 MedGen:CN169374 17 2569427 2569427 T C 256105 single nucleotide variant NM_000430.3(PAFAH1B1):c.192+43T>C 75468446 MedGen:CN169374 17 2666133 2666133 T C 256106 single nucleotide variant NM_000430.3(PAFAH1B1):c.192+49C>T 140548168 MedGen:CN169374 17 2666139 2666139 C T 256106 single nucleotide variant NM_000430.3(PAFAH1B1):c.192+49C>T 140548168 MedGen:CN169374 17 2569433 2569433 C T 260162 single nucleotide variant NM_000430.3(PAFAH1B1):c.826G>T (p.Glu276Ter) 886039665 MedGen:CN221809 17 2577508 2577508 G T 260162 single nucleotide variant NM_000430.3(PAFAH1B1):c.826G>T (p.Glu276Ter) 886039665 MedGen:CN221809 17 2674214 2674214 G T 265007 single nucleotide variant NM_000430.3(PAFAH1B1):c.337C>T (p.Arg113Ter) 886041341 MedGen:CN221809 17 2570430 2570430 C T 265007 single nucleotide variant NM_000430.3(PAFAH1B1):c.337C>T (p.Arg113Ter) 886041341 MedGen:CN221809 17 2667136 2667136 C T 265009 deletion NM_000430.3(PAFAH1B1):c.1159+5delG 886041664 MedGen:CN221809 17 2583619 2583619 G - 265009 deletion NM_000430.3(PAFAH1B1):c.1159+5delG 886041664 MedGen:CN221809 17 2680325 2680325 G - 269260 single nucleotide variant NM_000430.3(PAFAH1B1):c.570C>T (p.Gly190=) 758682063 MedGen:CN169374 17 2575950 2575950 C T 269260 single nucleotide variant NM_000430.3(PAFAH1B1):c.570C>T (p.Gly190=) 758682063 MedGen:CN169374 17 2672656 2672656 C T 327704 single nucleotide variant NM_000430.3(PAFAH1B1):c.-507G>C 886052703 MedGen:CN239259 17 2593690 2593690 G C 327704 single nucleotide variant NM_000430.3(PAFAH1B1):c.-507G>C 886052703 MedGen:CN239259 17 2496984 2496984 G C 327708 single nucleotide variant NM_000430.3(PAFAH1B1):c.-335C>T 886052707 MedGen:CN239259 17 2593862 2593862 C T 327708 single nucleotide variant NM_000430.3(PAFAH1B1):c.-335C>T 886052707 MedGen:CN239259 17 2497156 2497156 C T 327720 deletion NM_000430.3(PAFAH1B1):c.-176delA 886052711 MedGen:CN239259 17 2638113 2638113 A - 327720 deletion NM_000430.3(PAFAH1B1):c.-176delA 886052711 MedGen:CN239259 17 2541407 2541407 A - 327728 single nucleotide variant NM_000430.3(PAFAH1B1):c.-62T>G 563543268 MedGen:CN239259 17 2638227 2638227 T G 327728 single nucleotide variant NM_000430.3(PAFAH1B1):c.-62T>G 563543268 MedGen:CN239259 17 2541521 2541521 T G 327729 single nucleotide variant NM_000430.3(PAFAH1B1):c.*532G>A 886052716 MedGen:CN239259 17 2682334 2682334 G A 327729 single nucleotide variant NM_000430.3(PAFAH1B1):c.*532G>A 886052716 MedGen:CN239259 17 2585628 2585628 G A 327730 single nucleotide variant NM_000430.3(PAFAH1B1):c.*686T>A 4790090 MedGen:CN239259 17 2682488 2682488 T A 327730 single nucleotide variant NM_000430.3(PAFAH1B1):c.*686T>A 4790090 MedGen:CN239259 17 2585782 2585782 T A 327732 single nucleotide variant NM_000430.3(PAFAH1B1):c.*1053G>A 115542660 MedGen:CN239259 17 2586149 2586149 G A 327732 single nucleotide variant NM_000430.3(PAFAH1B1):c.*1053G>A 115542660 MedGen:CN239259 17 2682855 2682855 G A 327739 single nucleotide variant NM_000430.3(PAFAH1B1):c.*1121A>G 148413152 MedGen:CN239259 17 2586217 2586217 A G 327739 single nucleotide variant NM_000430.3(PAFAH1B1):c.*1121A>G 148413152 MedGen:CN239259 17 2682923 2682923 A G 327746 single nucleotide variant NM_000430.3(PAFAH1B1):c.*1663G>A 188851173 MedGen:CN239259 17 2586759 2586759 G A 327746 single nucleotide variant NM_000430.3(PAFAH1B1):c.*1663G>A 188851173 MedGen:CN239259 17 2683465 2683465 G A 327747 single nucleotide variant NM_000430.3(PAFAH1B1):c.*1795A>G 886052724 MedGen:CN239259 17 2683597 2683597 A G 327747 single nucleotide variant NM_000430.3(PAFAH1B1):c.*1795A>G 886052724 MedGen:CN239259 17 2586891 2586891 A G 327750 single nucleotide variant NM_000430.3(PAFAH1B1):c.*1914A>T 16952324 MedGen:CN239259 17 2683716 2683716 A T 327750 single nucleotide variant NM_000430.3(PAFAH1B1):c.*1914A>T 16952324 MedGen:CN239259 17 2587010 2587010 A T 327751 single nucleotide variant NM_000430.3(PAFAH1B1):c.*2833C>T 555460880 MedGen:CN239259 17 2684635 2684635 C T 327751 single nucleotide variant NM_000430.3(PAFAH1B1):c.*2833C>T 555460880 MedGen:CN239259 17 2587929 2587929 C T 327758 single nucleotide variant NM_000430.3(PAFAH1B1):c.*2891G>A 182338521 MedGen:CN239259 17 2684693 2684693 G A 327758 single nucleotide variant NM_000430.3(PAFAH1B1):c.*2891G>A 182338521 MedGen:CN239259 17 2587987 2587987 G A 327760 single nucleotide variant NM_000430.3(PAFAH1B1):c.*3187C>T 78230530 MedGen:CN239259 17 2588283 2588283 C T 327760 single nucleotide variant NM_000430.3(PAFAH1B1):c.*3187C>T 78230530 MedGen:CN239259 17 2684989 2684989 C T 327761 duplication NM_000430.3(PAFAH1B1):c.*3331dupA 886052730 MedGen:CN239259 17 2588427 2588427 A AA 327761 duplication NM_000430.3(PAFAH1B1):c.*3331dupA 886052730 MedGen:CN239259 17 2685133 2685133 A AA 337481 single nucleotide variant NM_000430.3(PAFAH1B1):c.-525G>C 536150262 MedGen:CN239259 17 2593672 2593672 G C 337481 single nucleotide variant NM_000430.3(PAFAH1B1):c.-525G>C 536150262 MedGen:CN239259 17 2496966 2496966 G C 337488 duplication NM_000430.3(PAFAH1B1):c.-325_-320dupGGGCCC 886052706 MedGen:CN239259 17 2593872 2593877 GGGCCC GGGCCCGGGCCC 337488 duplication NM_000430.3(PAFAH1B1):c.-325_-320dupGGGCCC 886052706 MedGen:CN239259 17 2497166 2497171 GGGCCC GGGCCCGGGCCC 337491 single nucleotide variant NM_000430.3(PAFAH1B1):c.-306C>A 187878265 MedGen:CN239259 17 2593891 2593891 C A 337491 single nucleotide variant NM_000430.3(PAFAH1B1):c.-306C>A 187878265 MedGen:CN239259 17 2497185 2497185 C A 337494 single nucleotide variant NM_000430.3(PAFAH1B1):c.-304C>A 886052708 MedGen:CN239259 17 2593893 2593893 C A 337494 single nucleotide variant NM_000430.3(PAFAH1B1):c.-304C>A 886052708 MedGen:CN239259 17 2497187 2497187 C A 337497 single nucleotide variant NM_000430.3(PAFAH1B1):c.-192C>T 886052710 MedGen:CN239259 17 2594005 2594005 C T 337497 single nucleotide variant NM_000430.3(PAFAH1B1):c.-192C>T 886052710 MedGen:CN239259 17 2497299 2497299 C T 337501 single nucleotide variant NM_000430.3(PAFAH1B1):c.-84A>T 371416321 MedGen:CN239259 17 2638205 2638205 A T 337501 single nucleotide variant NM_000430.3(PAFAH1B1):c.-84A>T 371416321 MedGen:CN239259 17 2541499 2541499 A T 337507 single nucleotide variant NM_000430.3(PAFAH1B1):c.399+4A>G 886052712 MedGen:CN239259 17 2667202 2667202 A G 337507 single nucleotide variant NM_000430.3(PAFAH1B1):c.399+4A>G 886052712 MedGen:CN239259 17 2570496 2570496 A G 337509 single nucleotide variant NM_000430.3(PAFAH1B1):c.618T>A (p.His206Gln) 781710874 MedGen:CN239259 17 2672704 2672704 T A 337509 single nucleotide variant NM_000430.3(PAFAH1B1):c.618T>A (p.His206Gln) 781710874 MedGen:CN239259 17 2575998 2575998 T A 337511 single nucleotide variant NM_000430.3(PAFAH1B1):c.1181A>G (p.Tyr394Cys) 754775447 MedGen:CN239259 17 2681750 2681750 A G 337511 single nucleotide variant NM_000430.3(PAFAH1B1):c.1181A>G (p.Tyr394Cys) 754775447 MedGen:CN239259 17 2585044 2585044 A G 337514 single nucleotide variant NM_000430.3(PAFAH1B1):c.*279A>G 755908657 MedGen:CN239259 17 2682081 2682081 A G 337514 single nucleotide variant NM_000430.3(PAFAH1B1):c.*279A>G 755908657 MedGen:CN239259 17 2585375 2585375 A G 337526 single nucleotide variant NM_000430.3(PAFAH1B1):c.*468C>A 141878652 MedGen:CN239259 17 2682270 2682270 C A 337526 single nucleotide variant NM_000430.3(PAFAH1B1):c.*468C>A 141878652 MedGen:CN239259 17 2585564 2585564 C A 337527 single nucleotide variant NM_000430.3(PAFAH1B1):c.*588T>C 886052717 MedGen:CN239259 17 2682390 2682390 T C 337527 single nucleotide variant NM_000430.3(PAFAH1B1):c.*588T>C 886052717 MedGen:CN239259 17 2585684 2585684 T C 337531 single nucleotide variant NM_000430.3(PAFAH1B1):c.*701C>T 112662089 MedGen:CN239259 17 2585797 2585797 C T 337531 single nucleotide variant NM_000430.3(PAFAH1B1):c.*701C>T 112662089 MedGen:CN239259 17 2682503 2682503 C T 337532 single nucleotide variant NM_000430.3(PAFAH1B1):c.*806G>A 886052718 MedGen:CN239259 17 2585902 2585902 G A 337532 single nucleotide variant NM_000430.3(PAFAH1B1):c.*806G>A 886052718 MedGen:CN239259 17 2682608 2682608 G A 337535 single nucleotide variant NM_000430.3(PAFAH1B1):c.*863C>G 767091688 MedGen:CN239259 17 2585959 2585959 C G 337535 single nucleotide variant NM_000430.3(PAFAH1B1):c.*863C>G 767091688 MedGen:CN239259 17 2682665 2682665 C G 337536 deletion NM_000430.3(PAFAH1B1):c.*1042_*1043delAG 55976318 MedGen:CN239259 17 2586138 2586139 AG - 337536 deletion NM_000430.3(PAFAH1B1):c.*1042_*1043delAG 55976318 MedGen:CN239259 17 2682844 2682845 AG - 337541 single nucleotide variant NM_000430.3(PAFAH1B1):c.*1056C>T 760380019 MedGen:CN239259 17 2586152 2586152 C T 337541 single nucleotide variant NM_000430.3(PAFAH1B1):c.*1056C>T 760380019 MedGen:CN239259 17 2682858 2682858 C T 337544 single nucleotide variant NM_000430.3(PAFAH1B1):c.*1356C>T 528384739 MedGen:CN239259 17 2683158 2683158 C T 337544 single nucleotide variant NM_000430.3(PAFAH1B1):c.*1356C>T 528384739 MedGen:CN239259 17 2586452 2586452 C T 337548 single nucleotide variant NM_000430.3(PAFAH1B1):c.*1906A>G 886052725 MedGen:CN239259 17 2683708 2683708 A G 337548 single nucleotide variant NM_000430.3(PAFAH1B1):c.*1906A>G 886052725 MedGen:CN239259 17 2587002 2587002 A G 337549 single nucleotide variant NM_000430.3(PAFAH1B1):c.*1990A>G 886052727 MedGen:CN239259 17 2683792 2683792 A G 337549 single nucleotide variant NM_000430.3(PAFAH1B1):c.*1990A>G 886052727 MedGen:CN239259 17 2587086 2587086 A G 337561 single nucleotide variant NM_000430.3(PAFAH1B1):c.*2140A>G 9897737 MedGen:CN239259 17 2683942 2683942 A G 337561 single nucleotide variant NM_000430.3(PAFAH1B1):c.*2140A>G 9897737 MedGen:CN239259 17 2587236 2587236 A G 337562 single nucleotide variant NM_000430.3(PAFAH1B1):c.*2387C>G 142534933 MedGen:CN239259 17 2684189 2684189 C G 337562 single nucleotide variant NM_000430.3(PAFAH1B1):c.*2387C>G 142534933 MedGen:CN239259 17 2587483 2587483 C G 337567 single nucleotide variant NM_000430.3(PAFAH1B1):c.*2603G>C 570116568 MedGen:CN239259 17 2684405 2684405 G C 337567 single nucleotide variant NM_000430.3(PAFAH1B1):c.*2603G>C 570116568 MedGen:CN239259 17 2587699 2587699 G C 337569 single nucleotide variant NM_000430.3(PAFAH1B1):c.*2835G>A 186069162 MedGen:CN239259 17 2684637 2684637 G A 337569 single nucleotide variant NM_000430.3(PAFAH1B1):c.*2835G>A 186069162 MedGen:CN239259 17 2587931 2587931 G A 337574 single nucleotide variant NM_000430.3(PAFAH1B1):c.*2862G>A 145845266 MedGen:CN239259 17 2684664 2684664 G A 337574 single nucleotide variant NM_000430.3(PAFAH1B1):c.*2862G>A 145845266 MedGen:CN239259 17 2587958 2587958 G A 337577 single nucleotide variant NM_000430.3(PAFAH1B1):c.*3072T>C 545489859 MedGen:CN239259 17 2588168 2588168 T C 337577 single nucleotide variant NM_000430.3(PAFAH1B1):c.*3072T>C 545489859 MedGen:CN239259 17 2684874 2684874 T C 337579 single nucleotide variant NM_000430.3(PAFAH1B1):c.*3438A>G 886052731 MedGen:CN239259 17 2588534 2588534 A G 337579 single nucleotide variant NM_000430.3(PAFAH1B1):c.*3438A>G 886052731 MedGen:CN239259 17 2685240 2685240 A G 337580 single nucleotide variant NM_000430.3(PAFAH1B1):c.*3631G>A 886052735 MedGen:CN239259 17 2685433 2685433 G A 337580 single nucleotide variant NM_000430.3(PAFAH1B1):c.*3631G>A 886052735 MedGen:CN239259 17 2588727 2588727 G A 343742 duplication NM_000430.3(PAFAH1B1):c.-534_-529dupTGGAGC 886052702 MedGen:CN239259 17 2593663 2593668 TGGAGC TGGAGCTGGAGC 343742 duplication NM_000430.3(PAFAH1B1):c.-534_-529dupTGGAGC 886052702 MedGen:CN239259 17 2496957 2496962 TGGAGC TGGAGCTGGAGC 343743 single nucleotide variant NM_000430.3(PAFAH1B1):c.-299C>T 193158967 MedGen:CN239259 17 2593898 2593898 C T 343743 single nucleotide variant NM_000430.3(PAFAH1B1):c.-299C>T 193158967 MedGen:CN239259 17 2497192 2497192 C T 343746 single nucleotide variant NM_000430.3(PAFAH1B1):c.-294C>T 575665906 MedGen:CN239259 17 2593903 2593903 C T 343746 single nucleotide variant NM_000430.3(PAFAH1B1):c.-294C>T 575665906 MedGen:CN239259 17 2497197 2497197 C T 343747 single nucleotide variant NM_000430.3(PAFAH1B1):c.-133A>T 184770358 MedGen:CN239259 17 2638156 2638156 A T 343747 single nucleotide variant NM_000430.3(PAFAH1B1):c.-133A>T 184770358 MedGen:CN239259 17 2541450 2541450 A T 343758 duplication NM_000430.3(PAFAH1B1):c.900+11dupT 886052713 MedGen:CN239259 17 2674299 2674299 T TT 343758 duplication NM_000430.3(PAFAH1B1):c.900+11dupT 886052713 MedGen:CN239259 17 2577593 2577593 T TT 343761 single nucleotide variant NM_000430.3(PAFAH1B1):c.*852A>G 144602512 MedGen:CN239259 17 2585948 2585948 A G 343761 single nucleotide variant NM_000430.3(PAFAH1B1):c.*852A>G 144602512 MedGen:CN239259 17 2682654 2682654 A G 343764 single nucleotide variant NM_000430.3(PAFAH1B1):c.*1297T>G 886052719 MedGen:CN239259 17 2586393 2586393 T G 343764 single nucleotide variant NM_000430.3(PAFAH1B1):c.*1297T>G 886052719 MedGen:CN239259 17 2683099 2683099 T G 343768 single nucleotide variant NM_000430.3(PAFAH1B1):c.*1331C>G 755110290 MedGen:CN239259 17 2586427 2586427 C G 343768 single nucleotide variant NM_000430.3(PAFAH1B1):c.*1331C>G 755110290 MedGen:CN239259 17 2683133 2683133 C G 343770 single nucleotide variant NM_000430.3(PAFAH1B1):c.*1378G>A 1803914 MedGen:CN239259 17 2683180 2683180 G A 343770 single nucleotide variant NM_000430.3(PAFAH1B1):c.*1378G>A 1803914 MedGen:CN239259 17 2586474 2586474 G A 343774 deletion NM_000430.3(PAFAH1B1):c.*1523_*1524delAG 886052721 MedGen:CN239259 17 2683325 2683326 AG - 343774 deletion NM_000430.3(PAFAH1B1):c.*1523_*1524delAG 886052721 MedGen:CN239259 17 2586619 2586620 AG - 343776 single nucleotide variant NM_000430.3(PAFAH1B1):c.*1601C>T 886052722 MedGen:CN239259 17 2683403 2683403 C T 343776 single nucleotide variant NM_000430.3(PAFAH1B1):c.*1601C>T 886052722 MedGen:CN239259 17 2586697 2586697 C T 343777 single nucleotide variant NM_000430.3(PAFAH1B1):c.*1848A>G 568932476 MedGen:CN239259 17 2683650 2683650 A G 343777 single nucleotide variant NM_000430.3(PAFAH1B1):c.*1848A>G 568932476 MedGen:CN239259 17 2586944 2586944 A G 343783 deletion NM_000430.3(PAFAH1B1):c.*1934_*1935delAA 886052726 MedGen:CN239259 17 2683736 2683737 AA - 343783 deletion NM_000430.3(PAFAH1B1):c.*1934_*1935delAA 886052726 MedGen:CN239259 17 2587030 2587031 AA - 343787 single nucleotide variant NM_000430.3(PAFAH1B1):c.*2230G>A 117435480 MedGen:CN239259 17 2684032 2684032 G A 343787 single nucleotide variant NM_000430.3(PAFAH1B1):c.*2230G>A 117435480 MedGen:CN239259 17 2587326 2587326 G A 343788 single nucleotide variant NM_000430.3(PAFAH1B1):c.*2355A>G 767681103 MedGen:CN239259 17 2587451 2587451 A G 343788 single nucleotide variant NM_000430.3(PAFAH1B1):c.*2355A>G 767681103 MedGen:CN239259 17 2684157 2684157 A G 343790 single nucleotide variant NM_000430.3(PAFAH1B1):c.*2356T>C 752863133 MedGen:CN239259 17 2684158 2684158 T C 343790 single nucleotide variant NM_000430.3(PAFAH1B1):c.*2356T>C 752863133 MedGen:CN239259 17 2587452 2587452 T C 343791 single nucleotide variant NM_000430.3(PAFAH1B1):c.*2584C>T 150281693 MedGen:CN239259 17 2684386 2684386 C T 343791 single nucleotide variant NM_000430.3(PAFAH1B1):c.*2584C>T 150281693 MedGen:CN239259 17 2587680 2587680 C T 343794 single nucleotide variant NM_000430.3(PAFAH1B1):c.*2922T>C 578108539 MedGen:CN239259 17 2684724 2684724 T C 343794 single nucleotide variant NM_000430.3(PAFAH1B1):c.*2922T>C 578108539 MedGen:CN239259 17 2588018 2588018 T C 343798 single nucleotide variant NM_000430.3(PAFAH1B1):c.*3038C>T 886052729 MedGen:CN239259 17 2684840 2684840 C T 343798 single nucleotide variant NM_000430.3(PAFAH1B1):c.*3038C>T 886052729 MedGen:CN239259 17 2588134 2588134 C T 343801 single nucleotide variant NM_000430.3(PAFAH1B1):c.*3319G>C 527521914 MedGen:CN239259 17 2588415 2588415 G C 343801 single nucleotide variant NM_000430.3(PAFAH1B1):c.*3319G>C 527521914 MedGen:CN239259 17 2685121 2685121 G C 343805 single nucleotide variant NM_000430.3(PAFAH1B1):c.*3371G>T 148118466 MedGen:CN239259 17 2588467 2588467 G T 343805 single nucleotide variant NM_000430.3(PAFAH1B1):c.*3371G>T 148118466 MedGen:CN239259 17 2685173 2685173 G T 343807 single nucleotide variant NM_000430.3(PAFAH1B1):c.*3570G>A 886052733 MedGen:CN239259 17 2685372 2685372 G A 343807 single nucleotide variant NM_000430.3(PAFAH1B1):c.*3570G>A 886052733 MedGen:CN239259 17 2588666 2588666 G A 343810 single nucleotide variant NM_000430.3(PAFAH1B1):c.*3584G>A 886052734 MedGen:CN239259 17 2685386 2685386 G A 343810 single nucleotide variant NM_000430.3(PAFAH1B1):c.*3584G>A 886052734 MedGen:CN239259 17 2588680 2588680 G A 343814 deletion NM_000430.3(PAFAH1B1):c.*3627_*3628delAA 58458769 MedGen:CN239259 17 2685429 2685430 AA - 343814 deletion NM_000430.3(PAFAH1B1):c.*3627_*3628delAA 58458769 MedGen:CN239259 17 2588723 2588724 AA - 343817 single nucleotide variant NM_000430.3(PAFAH1B1):c.*3694C>T 570821627 MedGen:CN239259 17 2685496 2685496 C T 343817 single nucleotide variant NM_000430.3(PAFAH1B1):c.*3694C>T 570821627 MedGen:CN239259 17 2588790 2588790 C T 345208 single nucleotide variant NM_000430.3(PAFAH1B1):c.-504G>A 886052704 MedGen:CN239259 17 2593693 2593693 G A 345208 single nucleotide variant NM_000430.3(PAFAH1B1):c.-504G>A 886052704 MedGen:CN239259 17 2496987 2496987 G A 345211 deletion NM_000430.3(PAFAH1B1):c.-440_-438delAAG 886052705 MedGen:CN239259 17 2593757 2593759 AAG - 345211 deletion NM_000430.3(PAFAH1B1):c.-440_-438delAAG 886052705 MedGen:CN239259 17 2497051 2497053 AAG - 345215 single nucleotide variant NM_000430.3(PAFAH1B1):c.-209G>A 886052709 MedGen:CN239259 17 2593988 2593988 G A 345215 single nucleotide variant NM_000430.3(PAFAH1B1):c.-209G>A 886052709 MedGen:CN239259 17 2497282 2497282 G A 345226 duplication NM_000430.3(PAFAH1B1):c.*68dupC 886052714 MedGen:CN239259 17 2681870 2681870 C CC 345226 duplication NM_000430.3(PAFAH1B1):c.*68dupC 886052714 MedGen:CN239259 17 2585164 2585164 C CC 345227 single nucleotide variant NM_000430.3(PAFAH1B1):c.*387T>C 886052715 MedGen:CN239259 17 2682189 2682189 T C 345227 single nucleotide variant NM_000430.3(PAFAH1B1):c.*387T>C 886052715 MedGen:CN239259 17 2585483 2585483 T C 345228 single nucleotide variant NM_000430.3(PAFAH1B1):c.*793A>G 59721618 MedGen:CN239259 17 2585889 2585889 A G 345228 single nucleotide variant NM_000430.3(PAFAH1B1):c.*793A>G 59721618 MedGen:CN239259 17 2682595 2682595 A G 345238 single nucleotide variant NM_000430.3(PAFAH1B1):c.*1133A>G 4790356 MedGen:CN239259 17 2586229 2586229 A G 345238 single nucleotide variant NM_000430.3(PAFAH1B1):c.*1133A>G 4790356 MedGen:CN239259 17 2682935 2682935 A G 345239 single nucleotide variant NM_000430.3(PAFAH1B1):c.*1496C>G 886052720 MedGen:CN239259 17 2586592 2586592 C G 345239 single nucleotide variant NM_000430.3(PAFAH1B1):c.*1496C>G 886052720 MedGen:CN239259 17 2683298 2683298 C G 345243 single nucleotide variant NM_000430.3(PAFAH1B1):c.*1681G>A 886052723 MedGen:CN239259 17 2683483 2683483 G A 345243 single nucleotide variant NM_000430.3(PAFAH1B1):c.*1681G>A 886052723 MedGen:CN239259 17 2586777 2586777 G A 345250 single nucleotide variant NM_000430.3(PAFAH1B1):c.*1713A>G 538507903 MedGen:CN239259 17 2683515 2683515 A G 345250 single nucleotide variant NM_000430.3(PAFAH1B1):c.*1713A>G 538507903 MedGen:CN239259 17 2586809 2586809 A G 345254 single nucleotide variant NM_000430.3(PAFAH1B1):c.*1991T>C 57089174 MedGen:CN239259 17 2683793 2683793 T C 345254 single nucleotide variant NM_000430.3(PAFAH1B1):c.*1991T>C 57089174 MedGen:CN239259 17 2587087 2587087 T C 345256 single nucleotide variant NM_000430.3(PAFAH1B1):c.*2451A>G 374784256 MedGen:CN239259 17 2684253 2684253 A G 345256 single nucleotide variant NM_000430.3(PAFAH1B1):c.*2451A>G 374784256 MedGen:CN239259 17 2587547 2587547 A G 345265 single nucleotide variant NM_000430.3(PAFAH1B1):c.*2574G>A 886052728 MedGen:CN239259 17 2587670 2587670 G A 345265 single nucleotide variant NM_000430.3(PAFAH1B1):c.*2574G>A 886052728 MedGen:CN239259 17 2684376 2684376 G A 345267 single nucleotide variant NM_000430.3(PAFAH1B1):c.*2600G>A 182473004 MedGen:CN239259 17 2684402 2684402 G A 345267 single nucleotide variant NM_000430.3(PAFAH1B1):c.*2600G>A 182473004 MedGen:CN239259 17 2587696 2587696 G A 345272 single nucleotide variant NM_000430.3(PAFAH1B1):c.*2608C>A 746353611 MedGen:CN239259 17 2684410 2684410 C A 345272 single nucleotide variant NM_000430.3(PAFAH1B1):c.*2608C>A 746353611 MedGen:CN239259 17 2587704 2587704 C A 345276 single nucleotide variant NM_000430.3(PAFAH1B1):c.*2945C>G 186646353 MedGen:CN239259 17 2588041 2588041 C G 345276 single nucleotide variant NM_000430.3(PAFAH1B1):c.*2945C>G 186646353 MedGen:CN239259 17 2684747 2684747 C G 345277 single nucleotide variant NM_000430.3(PAFAH1B1):c.*3040C>T 754076158 MedGen:CN239259 17 2588136 2588136 C T 345277 single nucleotide variant NM_000430.3(PAFAH1B1):c.*3040C>T 754076158 MedGen:CN239259 17 2684842 2684842 C T 345278 single nucleotide variant NM_000430.3(PAFAH1B1):c.*3075C>G 557648415 MedGen:CN239259 17 2588171 2588171 C G 345278 single nucleotide variant NM_000430.3(PAFAH1B1):c.*3075C>G 557648415 MedGen:CN239259 17 2684877 2684877 C G 345279 single nucleotide variant NM_000430.3(PAFAH1B1):c.*3180G>A 370805314 MedGen:CN239259 17 2588276 2588276 G A 345279 single nucleotide variant NM_000430.3(PAFAH1B1):c.*3180G>A 370805314 MedGen:CN239259 17 2684982 2684982 G A 345290 single nucleotide variant NM_000430.3(PAFAH1B1):c.*3294G>A 75472729 MedGen:CN239259 17 2588390 2588390 G A 345290 single nucleotide variant NM_000430.3(PAFAH1B1):c.*3294G>A 75472729 MedGen:CN239259 17 2685096 2685096 G A 345303 single nucleotide variant NM_000430.3(PAFAH1B1):c.*3442T>G 191536229 MedGen:CN239259 17 2588538 2588538 T G 345303 single nucleotide variant NM_000430.3(PAFAH1B1):c.*3442T>G 191536229 MedGen:CN239259 17 2685244 2685244 T G 345309 single nucleotide variant NM_000430.3(PAFAH1B1):c.*3447G>C 560850770 MedGen:CN239259 17 2588543 2588543 G C 345309 single nucleotide variant NM_000430.3(PAFAH1B1):c.*3447G>C 560850770 MedGen:CN239259 17 2685249 2685249 G C 345312 single nucleotide variant NM_000430.3(PAFAH1B1):c.*3528C>G 886052732 MedGen:CN239259 17 2685330 2685330 C G 345312 single nucleotide variant NM_000430.3(PAFAH1B1):c.*3528C>G 886052732 MedGen:CN239259 17 2588624 2588624 C G

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 17 2545473 rs8077351 A G rs8077351 9.90E-06 Urinary metabolites HPOID:0000079 DOID:557 A intron GWASdb_trait 17 2577091 rs2317297 C T rs2317297 1.10E-05 Urinary metabolites HPOID:0000079 DOID:557 T intron GWASdb_trait 17 2578648 rs4790353 G T rs4790353 6.84E-05 Tunica Media HPOID:0001627 DOID:114 T intron GWASdb_trait 17 2589022 rs7216704 C T rs7216704 9.29E-05 Adverse response to chemotherapy (neutropenia/leucopenia) (gemcitabine) HPOID:0001875|HPOID:0001882 DOID:1227 T nearGene-3 GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000007168.12 PAFAH1B1 601545