Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 27906 duplication SPTAN1, 6-BP DUP, NT6923 -1 MedGen:C3150731,OMIM:613477 na -1 -1 na na 44156 deletion NM_001130438.2(SPTAN1):c.6605_6607delAGC (p.Gln2202del) 398122865 MedGen:C3150731,OMIM:613477 9 131389693 131389695 AGC - 44156 deletion NM_001130438.2(SPTAN1):c.6605_6607delAGC (p.Gln2202del) 398122865 MedGen:C3150731,OMIM:613477 9 128627414 128627416 AGC - 44157 single nucleotide variant NM_001130438.2(SPTAN1):c.1697G>C (p.Arg566Pro) 370304886 - 9 131345019 131345019 G C 44157 single nucleotide variant NM_001130438.2(SPTAN1):c.1697G>C (p.Arg566Pro) 370304886 - 9 128582740 128582740 G C 142967 single nucleotide variant NM_001130438.2(SPTAN1):c.652-6G>A 115815276 MedGen:CN169374 9 131339096 131339096 G A 142967 single nucleotide variant NM_001130438.2(SPTAN1):c.652-6G>A 115815276 MedGen:CN169374 9 128576817 128576817 G A 142968 single nucleotide variant NM_001130438.2(SPTAN1):c.774G>A (p.Gln258=) 138609094 MedGen:CN169374 9 131339224 131339224 G A 142968 single nucleotide variant NM_001130438.2(SPTAN1):c.774G>A (p.Gln258=) 138609094 MedGen:CN169374 9 128576945 128576945 G A 142969 single nucleotide variant NM_001130438.2(SPTAN1):c.930+17G>A 117436936 MedGen:CN169374 9 131339569 131339569 G A 142969 single nucleotide variant NM_001130438.2(SPTAN1):c.930+17G>A 117436936 MedGen:CN169374 9 128577290 128577290 G A 142970 single nucleotide variant NM_001130438.2(SPTAN1):c.931-16C>T 149289060 MedGen:CN169374 9 131339615 131339615 C T 142970 single nucleotide variant NM_001130438.2(SPTAN1):c.931-16C>T 149289060 MedGen:CN169374 9 128577336 128577336 C T 142971 single nucleotide variant NM_001130438.2(SPTAN1):c.1221+11C>T 113357847 MedGen:CN239232;MedGen:CN169374 9 131340535 131340535 C T 142971 single nucleotide variant NM_001130438.2(SPTAN1):c.1221+11C>T 113357847 MedGen:CN239232;MedGen:CN169374 9 128578256 128578256 C T 142972 single nucleotide variant NM_001130438.2(SPTAN1):c.1330G>A (p.Val444Ile) 77358650 MedGen:CN239232;MedGen:C3150731,OMIM:613477;MedGen:CN169374 9 131343207 131343207 G A 142972 single nucleotide variant NM_001130438.2(SPTAN1):c.1330G>A (p.Val444Ile) 77358650 MedGen:CN239232;MedGen:C3150731,OMIM:613477;MedGen:CN169374 9 128580928 128580928 G A 142973 single nucleotide variant NM_001130438.2(SPTAN1):c.1461+14A>C 376751145 MedGen:CN169374 9 131343352 131343352 A C 142973 single nucleotide variant NM_001130438.2(SPTAN1):c.1461+14A>C 376751145 MedGen:CN169374 9 128581073 128581073 A C 142974 single nucleotide variant NM_001130438.2(SPTAN1):c.1710C>T (p.Ala570=) 115428827 MedGen:C0393706,Orphanet:ORPHA1934;MedGen:C3150731,OMIM:613477;MedGen:CN169374 9 131345032 131345032 C T 142974 single nucleotide variant NM_001130438.2(SPTAN1):c.1710C>T (p.Ala570=) 115428827 MedGen:C0393706,Orphanet:ORPHA1934;MedGen:C3150731,OMIM:613477;MedGen:CN169374 9 128582753 128582753 C T 142975 single nucleotide variant NM_001130438.2(SPTAN1):c.1737C>T (p.Phe579=) 143941068 MedGen:CN169374 9 131345059 131345059 C T 142975 single nucleotide variant NM_001130438.2(SPTAN1):c.1737C>T (p.Phe579=) 143941068 MedGen:CN169374 9 128582780 128582780 C T 142976 single nucleotide variant NM_001130438.2(SPTAN1):c.1807-11T>C 139049596 MedGen:CN239232;MedGen:CN169374 9 131345345 131345345 T C 142976 single nucleotide variant NM_001130438.2(SPTAN1):c.1807-11T>C 139049596 MedGen:CN239232;MedGen:CN169374 9 128583066 128583066 T C 142977 single nucleotide variant NM_001130438.2(SPTAN1):c.2011+10G>A 377437879 MedGen:CN169374 9 131345570 131345570 G A 142977 single nucleotide variant NM_001130438.2(SPTAN1):c.2011+10G>A 377437879 MedGen:CN169374 9 128583291 128583291 G A 142978 single nucleotide variant NM_001130438.2(SPTAN1):c.2163C>A (p.Ala721=) 10760566 MedGen:C0393706,Orphanet:ORPHA1934;MedGen:CN169374 9 131346218 131346218 A A 142978 single nucleotide variant NM_001130438.2(SPTAN1):c.2163C>A (p.Ala721=) 10760566 MedGen:C0393706,Orphanet:ORPHA1934;MedGen:CN169374 9 128583939 128583939 A A 142979 single nucleotide variant NM_001130438.2(SPTAN1):c.2194-13T>G 28676915 MedGen:CN239232;MedGen:CN169374 9 131346548 131346548 T G 142979 single nucleotide variant NM_001130438.2(SPTAN1):c.2194-13T>G 28676915 MedGen:CN239232;MedGen:CN169374 9 128584269 128584269 T G 142980 single nucleotide variant NM_001130438.2(SPTAN1):c.2343C>A (p.Ala781=) 34084388 MedGen:CN239232;MedGen:CN169374 9 131346710 131346710 C A 142980 single nucleotide variant NM_001130438.2(SPTAN1):c.2343C>A (p.Ala781=) 34084388 MedGen:CN239232;MedGen:CN169374 9 128584431 128584431 C A 142981 single nucleotide variant NM_001130438.2(SPTAN1):c.2610A>G (p.Gln870=) 138101005 MedGen:CN239232;MedGen:CN221809;MedGen:CN169374 9 131348076 131348076 A G 142981 single nucleotide variant NM_001130438.2(SPTAN1):c.2610A>G (p.Gln870=) 138101005 MedGen:CN239232;MedGen:CN221809;MedGen:CN169374 9 128585797 128585797 A G 142982 single nucleotide variant NM_001130438.2(SPTAN1):c.2700C>T (p.Asn900=) 147466898 MedGen:CN239232;MedGen:CN169374 9 131348166 131348166 C T 142991 single nucleotide variant NM_001130438.2(SPTAN1):c.3970C>T (p.Leu1324=) 147233101 MedGen:CN169374 9 128605401 128605401 C T 142982 single nucleotide variant NM_001130438.2(SPTAN1):c.2700C>T (p.Asn900=) 147466898 MedGen:CN239232;MedGen:CN169374 9 128585887 128585887 C T 142983 single nucleotide variant NM_001130438.2(SPTAN1):c.2778+18G>A 372896131 MedGen:CN169374 9 131348262 131348262 G A 142983 single nucleotide variant NM_001130438.2(SPTAN1):c.2778+18G>A 372896131 MedGen:CN169374 9 128585983 128585983 G A 142984 single nucleotide variant NM_001130438.2(SPTAN1):c.2880G>A (p.Val960=) 150731568 MedGen:CN239232;MedGen:CN169374 9 131351096 131351096 G A 142984 single nucleotide variant NM_001130438.2(SPTAN1):c.2880G>A (p.Val960=) 150731568 MedGen:CN239232;MedGen:CN169374 9 128588817 128588817 G A 142985 single nucleotide variant NM_001130438.2(SPTAN1):c.3051G>A (p.Pro1017=) 140279996 MedGen:CN239232;MedGen:CN169374 9 131353800 131353800 G A 142985 single nucleotide variant NM_001130438.2(SPTAN1):c.3051G>A (p.Pro1017=) 140279996 MedGen:CN239232;MedGen:CN169374 9 128591521 128591521 G A 142986 single nucleotide variant NM_001130438.2(SPTAN1):c.3300G>A (p.Ala1100=) 2227865 MedGen:CN239232;MedGen:CN169374 9 131356538 131356538 G A 142986 single nucleotide variant NM_001130438.2(SPTAN1):c.3300G>A (p.Ala1100=) 2227865 MedGen:CN239232;MedGen:CN169374 9 128594259 128594259 G A 142987 single nucleotide variant NM_001130438.2(SPTAN1):c.3520-19T>G 373387372 MedGen:CN169374 9 131361223 131361223 T G 142987 single nucleotide variant NM_001130438.2(SPTAN1):c.3520-19T>G 373387372 MedGen:CN169374 9 128598944 128598944 T G 142988 single nucleotide variant NM_001130438.2(SPTAN1):c.3520-14C>G 142682344 MedGen:CN239232;MedGen:CN169374 9 131361228 131361228 C G 142988 single nucleotide variant NM_001130438.2(SPTAN1):c.3520-14C>G 142682344 MedGen:CN239232;MedGen:CN169374 9 128598949 128598949 C G 142989 single nucleotide variant NM_001130438.2(SPTAN1):c.3849G>A (p.Ala1283=) 117614529 MedGen:CN239232;MedGen:CN169374 9 131367442 131367442 G A 142989 single nucleotide variant NM_001130438.2(SPTAN1):c.3849G>A (p.Ala1283=) 117614529 MedGen:CN239232;MedGen:CN169374 9 128605163 128605163 G A 142990 single nucleotide variant NM_001130438.2(SPTAN1):c.3912C>T (p.Pro1304=) 143844598 MedGen:CN169374 9 131367622 131367622 C T 142990 single nucleotide variant NM_001130438.2(SPTAN1):c.3912C>T (p.Pro1304=) 143844598 MedGen:CN169374 9 128605343 128605343 C T 142991 single nucleotide variant NM_001130438.2(SPTAN1):c.3970C>T (p.Leu1324=) 147233101 MedGen:CN169374 9 131367680 131367680 C T 142992 single nucleotide variant NM_001130438.2(SPTAN1):c.4224C>T (p.His1408=) 200180598 MedGen:CN169374 9 131370208 131370208 C T 142992 single nucleotide variant NM_001130438.2(SPTAN1):c.4224C>T (p.His1408=) 200180598 MedGen:CN169374 9 128607929 128607929 C T 142993 single nucleotide variant NM_001130438.2(SPTAN1):c.4410C>T (p.Thr1470=) 2228951 MedGen:CN239232;MedGen:C3150731,OMIM:613477;MedGen:CN169374 9 131370474 131370474 C T 142993 single nucleotide variant NM_001130438.2(SPTAN1):c.4410C>T (p.Thr1470=) 2228951 MedGen:CN239232;MedGen:C3150731,OMIM:613477;MedGen:CN169374 9 128608195 128608195 C T 142994 single nucleotide variant NM_001130438.2(SPTAN1):c.4595+4G>T 185925523 MedGen:CN169374 9 131371260 131371260 G T 142994 single nucleotide variant NM_001130438.2(SPTAN1):c.4595+4G>T 185925523 MedGen:CN169374 9 128608981 128608981 G T 142995 single nucleotide variant NM_001130438.2(SPTAN1):c.4773+13T>A 539111821 MedGen:CN169374 9 131371957 131371957 T A 142995 single nucleotide variant NM_001130438.2(SPTAN1):c.4773+13T>A 539111821 MedGen:CN169374 9 128609678 128609678 T A 142996 single nucleotide variant NM_001130438.2(SPTAN1):c.4905+20G>A 200959763 MedGen:CN169374 9 131374144 131374144 G A 142996 single nucleotide variant NM_001130438.2(SPTAN1):c.4905+20G>A 200959763 MedGen:CN169374 9 128611865 128611865 G A 142997 single nucleotide variant NM_001130438.2(SPTAN1):c.5019G>A (p.Lys1673=) 114745823 MedGen:CN169374 9 131374501 131374501 G A 142997 single nucleotide variant NM_001130438.2(SPTAN1):c.5019G>A (p.Lys1673=) 114745823 MedGen:CN169374 9 128612222 128612222 G A 142998 single nucleotide variant NM_001130438.2(SPTAN1):c.5085G>A (p.Leu1695=) 1415568 MedGen:CN169374 9 128613422 128613422 A A 142998 single nucleotide variant NM_001130438.2(SPTAN1):c.5085G>A (p.Leu1695=) 1415568 MedGen:CN169374 9 131375701 131375701 A A 142999 single nucleotide variant NM_001130438.2(SPTAN1):c.5358-16C>T 143969764 MedGen:CN169374 9 131379903 131379903 C T 142999 single nucleotide variant NM_001130438.2(SPTAN1):c.5358-16C>T 143969764 MedGen:CN169374 9 128617624 128617624 C T 143000 single nucleotide variant NM_001130438.2(SPTAN1):c.5406C>T (p.Thr1802=) 2227862 MedGen:CN239232;MedGen:CN169374 9 131379967 131379967 C T 143000 single nucleotide variant NM_001130438.2(SPTAN1):c.5406C>T (p.Thr1802=) 2227862 MedGen:CN239232;MedGen:CN169374 9 128617688 128617688 C T 143001 single nucleotide variant NM_001130438.2(SPTAN1):c.5415G>A (p.Gln1805=) 142964132 MedGen:CN169374 9 131379976 131379976 G A 143001 single nucleotide variant NM_001130438.2(SPTAN1):c.5415G>A (p.Gln1805=) 142964132 MedGen:CN169374 9 128617697 128617697 G A 143002 single nucleotide variant NM_001130438.2(SPTAN1):c.5460G>A (p.Ala1820=) 140191388 MedGen:CN169374 9 131380021 131380021 G A 143002 single nucleotide variant NM_001130438.2(SPTAN1):c.5460G>A (p.Ala1820=) 140191388 MedGen:CN169374 9 128617742 128617742 G A 143003 single nucleotide variant NM_001130438.2(SPTAN1):c.5478+12G>A 41275900 MedGen:C3150731,OMIM:613477;MedGen:CN169374 9 131380051 131380051 G A 143003 single nucleotide variant NM_001130438.2(SPTAN1):c.5478+12G>A 41275900 MedGen:C3150731,OMIM:613477;MedGen:CN169374 9 128617772 128617772 G A 143004 single nucleotide variant NM_001130438.2(SPTAN1):c.5523C>T (p.Ile1841=) 79569204 MedGen:CN239232;MedGen:C0393706,Orphanet:ORPHA1934;MedGen:CN169374 9 131380310 131380310 C T 143004 single nucleotide variant NM_001130438.2(SPTAN1):c.5523C>T (p.Ile1841=) 79569204 MedGen:CN239232;MedGen:C0393706,Orphanet:ORPHA1934;MedGen:CN169374 9 128618031 128618031 C T 143005 single nucleotide variant NM_001130438.2(SPTAN1):c.5552C>T (p.Ala1851Val) 11543347 MedGen:C3150731,OMIM:613477;MedGen:CN169374 9 131380339 131380339 C T 143005 single nucleotide variant NM_001130438.2(SPTAN1):c.5552C>T (p.Ala1851Val) 11543347 MedGen:C3150731,OMIM:613477;MedGen:CN169374 9 128618060 128618060 C T 143006 single nucleotide variant NM_001130438.2(SPTAN1):c.5775C>T (p.Thr1925=) 140353002 MedGen:CN169374 9 131383478 131383478 C T 143006 single nucleotide variant NM_001130438.2(SPTAN1):c.5775C>T (p.Thr1925=) 140353002 MedGen:CN169374 9 128621199 128621199 C T 143007 single nucleotide variant NM_001130438.2(SPTAN1):c.5790C>T (p.Arg1930=) 144435438 MedGen:CN169374 9 131383493 131383493 C T 143007 single nucleotide variant NM_001130438.2(SPTAN1):c.5790C>T (p.Arg1930=) 144435438 MedGen:CN169374 9 128621214 128621214 C T 143008 single nucleotide variant NM_001130438.2(SPTAN1):c.5925G>A (p.Ala1975=) 11543345 MedGen:CN239232;MedGen:CN169374 9 131386699 131386699 G A 143008 single nucleotide variant NM_001130438.2(SPTAN1):c.5925G>A (p.Ala1975=) 11543345 MedGen:CN239232;MedGen:CN169374 9 128624420 128624420 G A 143009 single nucleotide variant NM_001130438.2(SPTAN1):c.6111C>T (p.Gly2037=) 139799727 MedGen:CN239232;MedGen:CN169374 9 131388089 131388089 C T 143009 single nucleotide variant NM_001130438.2(SPTAN1):c.6111C>T (p.Gly2037=) 139799727 MedGen:CN239232;MedGen:CN169374 9 128625810 128625810 C T 143010 single nucleotide variant NM_001130438.2(SPTAN1):c.6159C>T (p.His2053=) 150902677 MedGen:CN239232;MedGen:CN169374 9 131388137 131388137 C T 143010 single nucleotide variant NM_001130438.2(SPTAN1):c.6159C>T (p.His2053=) 150902677 MedGen:CN239232;MedGen:CN169374 9 128625858 128625858 C T 143011 single nucleotide variant NM_001130438.2(SPTAN1):c.6234C>T (p.Ala2078=) 147132904 MedGen:CN169374 9 131388212 131388212 C T 143011 single nucleotide variant NM_001130438.2(SPTAN1):c.6234C>T (p.Ala2078=) 147132904 MedGen:CN169374 9 128625933 128625933 C T 143012 single nucleotide variant NM_001130438.2(SPTAN1):c.6498C>T (p.Arg2166=) 72758823 MedGen:CN239232;MedGen:C3150731,OMIM:613477;MedGen:CN169374 9 131388888 131388888 C T 143012 single nucleotide variant NM_001130438.2(SPTAN1):c.6498C>T (p.Arg2166=) 72758823 MedGen:CN239232;MedGen:C3150731,OMIM:613477;MedGen:CN169374 9 128626609 128626609 C T 143013 single nucleotide variant NM_001130438.2(SPTAN1):c.6549C>A (p.Thr2183=) 116778543 MedGen:CN239232;MedGen:CN169374 9 131388939 131388939 C A 143013 single nucleotide variant NM_001130438.2(SPTAN1):c.6549C>A (p.Thr2183=) 116778543 MedGen:CN239232;MedGen:CN169374 9 128626660 128626660 C A 143014 single nucleotide variant NM_001130438.2(SPTAN1):c.6660C>T (p.Asn2220=) 112955915 MedGen:CN239232;MedGen:CN169374 9 131389748 131389748 C T 143014 single nucleotide variant NM_001130438.2(SPTAN1):c.6660C>T (p.Asn2220=) 112955915 MedGen:CN239232;MedGen:CN169374 9 128627469 128627469 C T 143015 single nucleotide variant NM_001130438.2(SPTAN1):c.6708-7C>T 16930539 MedGen:CN239232;MedGen:CN169374 9 131392593 131392593 C T 143015 single nucleotide variant NM_001130438.2(SPTAN1):c.6708-7C>T 16930539 MedGen:CN239232;MedGen:CN169374 9 128630314 128630314 C T 143016 single nucleotide variant NM_001130438.2(SPTAN1):c.6762+10C>A 367706466 MedGen:CN169374 9 131392664 131392664 C A 143016 single nucleotide variant NM_001130438.2(SPTAN1):c.6762+10C>A 367706466 MedGen:CN169374 9 128630385 128630385 C A 143017 single nucleotide variant NM_001130438.2(SPTAN1):c.7146G>A (p.Thr2382=) 75028792 MedGen:CN169374 9 131394983 131394983 G A 143017 single nucleotide variant NM_001130438.2(SPTAN1):c.7146G>A (p.Thr2382=) 75028792 MedGen:CN169374 9 128632704 128632704 G A 143018 single nucleotide variant NM_001130438.2(SPTAN1):c.7155G>A (p.Pro2385=) 200456378 MedGen:CN169374 9 131394992 131394992 G A 143018 single nucleotide variant NM_001130438.2(SPTAN1):c.7155G>A (p.Pro2385=) 200456378 MedGen:CN169374 9 128632713 128632713 G A 143019 single nucleotide variant NM_001130438.2(SPTAN1):c.7161-9C>T 187613754 MedGen:C3150731,OMIM:613477;MedGen:CN169374 9 131395078 131395078 C T 143019 single nucleotide variant NM_001130438.2(SPTAN1):c.7161-9C>T 187613754 MedGen:C3150731,OMIM:613477;MedGen:CN169374 9 128632799 128632799 C T 143020 single nucleotide variant NM_001130438.2(SPTAN1):c.7161-8G>A 202180736 MedGen:CN169374 9 131395079 131395079 G A 143020 single nucleotide variant NM_001130438.2(SPTAN1):c.7161-8G>A 202180736 MedGen:CN169374 9 128632800 128632800 G A 143021 single nucleotide variant NM_001130438.2(SPTAN1):c.7359C>T (p.Tyr2453=) 138634476 MedGen:CN169374 9 131395538 131395538 C T 143021 single nucleotide variant NM_001130438.2(SPTAN1):c.7359C>T (p.Tyr2453=) 138634476 MedGen:CN169374 9 128633259 128633259 C T 143022 single nucleotide variant NM_001130438.2(SPTAN1):c.7365C>T (p.Asp2455=) 142777123 MedGen:CN169374 9 131395544 131395544 C T 143022 single nucleotide variant NM_001130438.2(SPTAN1):c.7365C>T (p.Asp2455=) 142777123 MedGen:CN169374 9 128633265 128633265 C T 143023 single nucleotide variant NM_001130438.2(SPTAN1):c.7389C>T (p.Thr2463=) 2228952 MedGen:CN239232;MedGen:CN169374 9 131395568 131395568 C T 143023 single nucleotide variant NM_001130438.2(SPTAN1):c.7389C>T (p.Thr2463=) 2228952 MedGen:CN239232;MedGen:CN169374 9 128633289 128633289 C T 168756 single nucleotide variant NM_001130438.2(SPTAN1):c.651+37A>C 2297769 MedGen:CN169374 9 128575382 128575382 A C 168756 single nucleotide variant NM_001130438.2(SPTAN1):c.651+37A>C 2297769 MedGen:CN169374 9 131337661 131337661 A C 168757 single nucleotide variant NM_001130438.2(SPTAN1):c.979C>T (p.Leu327=) 587784442 MedGen:CN169374 9 128577400 128577400 C T 168757 single nucleotide variant NM_001130438.2(SPTAN1):c.979C>T (p.Leu327=) 587784442 MedGen:CN169374 9 131339679 131339679 C T 168758 single nucleotide variant NM_001130438.2(SPTAN1):c.1303T>G (p.Ser435Ala) 144787939 MedGen:CN239232;MedGen:CN169374 9 128579718 128579718 T G 168758 single nucleotide variant NM_001130438.2(SPTAN1):c.1303T>G (p.Ser435Ala) 144787939 MedGen:CN239232;MedGen:CN169374 9 131341997 131341997 T G 168759 single nucleotide variant NM_001130438.2(SPTAN1):c.1389C>T (p.Tyr463=) 587784431 MedGen:C3150731,OMIM:613477 9 128580987 128580987 C T 168759 single nucleotide variant NM_001130438.2(SPTAN1):c.1389C>T (p.Tyr463=) 587784431 MedGen:C3150731,OMIM:613477 9 131343266 131343266 C T 168760 single nucleotide variant NM_001130438.2(SPTAN1):c.1462-27T>A 7040737 MedGen:CN169374 9 128581755 128581755 T A 168760 single nucleotide variant NM_001130438.2(SPTAN1):c.1462-27T>A 7040737 MedGen:CN169374 9 131344034 131344034 T A 168761 single nucleotide variant NM_001130438.2(SPTAN1):c.1603C>A (p.Gln535Lys) 79650677 MedGen:C3150731,OMIM:613477 9 128582509 128582509 C A 168761 single nucleotide variant NM_001130438.2(SPTAN1):c.1603C>A (p.Gln535Lys) 79650677 MedGen:C3150731,OMIM:613477 9 131344788 131344788 C A 168762 single nucleotide variant NM_001130438.2(SPTAN1):c.1677C>G (p.His559Gln) 587784432 MedGen:C3150731,OMIM:613477 9 128582720 128582720 C G 168762 single nucleotide variant NM_001130438.2(SPTAN1):c.1677C>G (p.His559Gln) 587784432 MedGen:C3150731,OMIM:613477 9 131344999 131344999 C G 168763 single nucleotide variant NM_001130438.2(SPTAN1):c.1697G>A (p.Arg566Gln) 370304886 MedGen:C3150731,OMIM:613477 9 128582740 128582740 G A 168763 single nucleotide variant NM_001130438.2(SPTAN1):c.1697G>A (p.Arg566Gln) 370304886 MedGen:C3150731,OMIM:613477 9 131345019 131345019 G A 168764 single nucleotide variant NM_001130438.2(SPTAN1):c.2064G>A (p.Glu688=) 587784433 MedGen:C3150731,OMIM:613477 9 128583840 128583840 G A 168764 single nucleotide variant NM_001130438.2(SPTAN1):c.2064G>A (p.Glu688=) 587784433 MedGen:C3150731,OMIM:613477 9 131346119 131346119 G A 168765 single nucleotide variant NM_001130438.2(SPTAN1):c.2438-13T>G 587784434 MedGen:C3150731,OMIM:613477 9 128584708 128584708 T G 168765 single nucleotide variant NM_001130438.2(SPTAN1):c.2438-13T>G 587784434 MedGen:C3150731,OMIM:613477 9 131346987 131346987 T G 168766 single nucleotide variant NM_001130438.2(SPTAN1):c.2560+43G>A 4836615 MedGen:CN169374 9 128584886 128584886 G A 168766 single nucleotide variant NM_001130438.2(SPTAN1):c.2560+43G>A 4836615 MedGen:CN169374 9 131347165 131347165 G A 168767 single nucleotide variant NM_001130438.2(SPTAN1):c.2560+47C>T 4837284 MedGen:CN169374 9 128584890 128584890 C T 168767 single nucleotide variant NM_001130438.2(SPTAN1):c.2560+47C>T 4837284 MedGen:CN169374 9 131347169 131347169 C T 168768 single nucleotide variant NM_001130438.2(SPTAN1):c.2674G>T (p.Ala892Ser) 587784435 MedGen:C3150731,OMIM:613477 9 128585861 128585861 G T 168768 single nucleotide variant NM_001130438.2(SPTAN1):c.2674G>T (p.Ala892Ser) 587784435 MedGen:C3150731,OMIM:613477 9 131348140 131348140 G T 168769 single nucleotide variant NM_001130438.2(SPTAN1):c.2872-42G>A 4307429 MedGen:CN169374 9 128588767 128588767 G A 168769 single nucleotide variant NM_001130438.2(SPTAN1):c.2872-42G>A 4307429 MedGen:CN169374 9 131351046 131351046 G A 168770 single nucleotide variant NM_001130438.2(SPTAN1):c.2889G>A (p.Thr963=) 34654141 MedGen:CN239232;MedGen:C3150731,OMIM:613477;MedGen:CN169374 9 128588826 128588826 G A 168770 single nucleotide variant NM_001130438.2(SPTAN1):c.2889G>A (p.Thr963=) 34654141 MedGen:CN239232;MedGen:C3150731,OMIM:613477;MedGen:CN169374 9 131351105 131351105 G A 168771 single nucleotide variant NM_001130438.2(SPTAN1):c.3193C>T (p.Arg1065Cys) 587784436 MedGen:C3150731,OMIM:613477 9 128593020 128593020 C T 168771 single nucleotide variant NM_001130438.2(SPTAN1):c.3193C>T (p.Arg1065Cys) 587784436 MedGen:C3150731,OMIM:613477 9 131355299 131355299 C T 168772 single nucleotide variant NM_001130438.2(SPTAN1):c.3415-9G>T 199802986 MedGen:C3150731,OMIM:613477 9 128598391 128598391 G T 168772 single nucleotide variant NM_001130438.2(SPTAN1):c.3415-9G>T 199802986 MedGen:C3150731,OMIM:613477 9 131360670 131360670 G T 168773 single nucleotide variant NM_001130438.2(SPTAN1):c.3486C>G (p.Leu1162=) 2227864 MedGen:CN169374 9 128598471 128598471 C G 168773 single nucleotide variant NM_001130438.2(SPTAN1):c.3486C>G (p.Leu1162=) 2227864 MedGen:CN169374 9 131360750 131360750 C G 168774 single nucleotide variant NM_001130438.2(SPTAN1):c.3486C>T (p.Leu1162=) 2227864 MedGen:CN239232;MedGen:CN169374 9 128598471 128598471 C T 168774 single nucleotide variant NM_001130438.2(SPTAN1):c.3486C>T (p.Leu1162=) 2227864 MedGen:CN239232;MedGen:CN169374 9 131360750 131360750 C T 168775 single nucleotide variant NM_001130438.2(SPTAN1):c.3546T>C (p.Asp1182=) 945831 MedGen:CN239232;MedGen:CN169374 9 128600082 128600082 T C 168775 single nucleotide variant NM_001130438.2(SPTAN1):c.3546T>C (p.Asp1182=) 945831 MedGen:CN239232;MedGen:CN169374 9 131362361 131362361 T C 168776 single nucleotide variant NM_001130438.2(SPTAN1):c.3899T>C (p.Ile1300Thr) 1048236 MedGen:C3150731,OMIM:613477 9 128605330 128605330 T C 168776 single nucleotide variant NM_001130438.2(SPTAN1):c.3899T>C (p.Ile1300Thr) 1048236 MedGen:C3150731,OMIM:613477 9 131367609 131367609 T C 168777 single nucleotide variant NM_001130438.2(SPTAN1):c.4199A>T (p.Gln1400Leu) 143108250 MedGen:C3150731,OMIM:613477;MedGen:CN169374 9 128607904 128607904 A T 168777 single nucleotide variant NM_001130438.2(SPTAN1):c.4199A>T (p.Gln1400Leu) 143108250 MedGen:C3150731,OMIM:613477;MedGen:CN169374 9 131370183 131370183 A T 168778 single nucleotide variant NM_001130438.2(SPTAN1):c.4905+41C>G 7024498 MedGen:CN169374 9 128611886 128611886 C G 168778 single nucleotide variant NM_001130438.2(SPTAN1):c.4905+41C>G 7024498 MedGen:CN169374 9 131374165 131374165 C G 168779 single nucleotide variant NM_001130438.2(SPTAN1):c.5023T>A (p.Phe1675Ile) 1129924 MedGen:C3150731,OMIM:613477 9 128612226 128612226 T A 168779 single nucleotide variant NM_001130438.2(SPTAN1):c.5023T>A (p.Phe1675Ile) 1129924 MedGen:C3150731,OMIM:613477 9 131374505 131374505 T A 168780 single nucleotide variant NM_001130438.2(SPTAN1):c.5149-10C>T 587784437 MedGen:C3150731,OMIM:613477;MedGen:CN169374 9 128615622 128615622 C T 168780 single nucleotide variant NM_001130438.2(SPTAN1):c.5149-10C>T 587784437 MedGen:C3150731,OMIM:613477;MedGen:CN169374 9 131377901 131377901 C T 168781 single nucleotide variant NM_001130438.2(SPTAN1):c.5406C>G (p.Thr1802=) 2227862 MedGen:CN169374 9 128617688 128617688 C G 168781 single nucleotide variant NM_001130438.2(SPTAN1):c.5406C>G (p.Thr1802=) 2227862 MedGen:CN169374 9 131379967 131379967 C G 168782 single nucleotide variant NM_001130438.2(SPTAN1):c.5437C>A (p.Arg1813=) 3750333 MedGen:CN239232;MedGen:CN169374 9 128617719 128617719 C A 168782 single nucleotide variant NM_001130438.2(SPTAN1):c.5437C>A (p.Arg1813=) 3750333 MedGen:CN239232;MedGen:CN169374 9 131379998 131379998 C A 168783 single nucleotide variant NM_001130438.2(SPTAN1):c.5479-41A>C 7864187 MedGen:CN169374 9 128617946 128617946 A C 168783 single nucleotide variant NM_001130438.2(SPTAN1):c.5479-41A>C 7864187 MedGen:CN169374 9 131380225 131380225 A C 168784 single nucleotide variant NM_001130438.2(SPTAN1):c.5981A>G (p.Glu1994Gly) 11543346 MedGen:C3150731,OMIM:613477 9 128624476 128624476 A G 168784 single nucleotide variant NM_001130438.2(SPTAN1):c.5981A>G (p.Glu1994Gly) 11543346 MedGen:C3150731,OMIM:613477 9 131386755 131386755 A G 168785 single nucleotide variant NM_001130438.2(SPTAN1):c.6042T>G (p.Ser2014=) 142830725 MedGen:CN239232;MedGen:C0393706,Orphanet:ORPHA1934;MedGen:CN169374 9 128625152 128625152 T G 168785 single nucleotide variant NM_001130438.2(SPTAN1):c.6042T>G (p.Ser2014=) 142830725 MedGen:CN239232;MedGen:C0393706,Orphanet:ORPHA1934;MedGen:CN169374 9 131387431 131387431 T G 168786 single nucleotide variant NM_001130438.2(SPTAN1):c.6280-27C>T 3737308 MedGen:CN169374 9 128626364 128626364 C T 168786 single nucleotide variant NM_001130438.2(SPTAN1):c.6280-27C>T 3737308 MedGen:CN169374 9 131388643 131388643 C T 168787 single nucleotide variant NM_001130438.2(SPTAN1):c.6498C>A (p.Arg2166=) 72758823 MedGen:C3150731,OMIM:613477 9 128626609 128626609 C A 168787 single nucleotide variant NM_001130438.2(SPTAN1):c.6498C>A (p.Arg2166=) 72758823 MedGen:C3150731,OMIM:613477 9 131388888 131388888 C A 168788 deletion NM_001130438.2(SPTAN1):c.6619_6621delGAG (p.Glu2207del) 587784438 MedGen:C3150731,OMIM:613477;MedGen:CN221809 9 128627428 128627430 GAG - 168788 deletion NM_001130438.2(SPTAN1):c.6619_6621delGAG (p.Glu2207del) 587784438 MedGen:C3150731,OMIM:613477;MedGen:CN221809 9 131389707 131389709 GAG - 168789 single nucleotide variant NM_001130438.2(SPTAN1):c.6708-47G>A 7866175 MedGen:CN169374 9 128630274 128630274 G A 168789 single nucleotide variant NM_001130438.2(SPTAN1):c.6708-47G>A 7866175 MedGen:CN169374 9 131392553 131392553 G A 168790 single nucleotide variant NM_001130438.2(SPTAN1):c.6763-7C>T 587784439 MedGen:C3150731,OMIM:613477 9 128632120 128632120 C T 168790 single nucleotide variant NM_001130438.2(SPTAN1):c.6763-7C>T 587784439 MedGen:C3150731,OMIM:613477 9 131394399 131394399 C T 168792 duplication NM_001130438.2(SPTAN1):c.6908_6916dupACCAGCTGG (p.Leu2305_Gly2306insAspGlnLeu) 587784440 MedGen:C3150731,OMIM:613477;MedGen:CN221809 9 128632272 128632280 ACCAGCTGG ACCAGCTGGACCAGCTGG 168792 duplication NM_001130438.2(SPTAN1):c.6908_6916dupACCAGCTGG (p.Leu2305_Gly2306insAspGlnLeu) 587784440 MedGen:C3150731,OMIM:613477;MedGen:CN221809 9 131394551 131394559 ACCAGCTGG ACCAGCTGGACCAGCTGG 168793 single nucleotide variant NM_001130438.2(SPTAN1):c.6960-8T>C 140241053 MedGen:CN239232;MedGen:CN169374 9 128632423 128632423 T C 168793 single nucleotide variant NM_001130438.2(SPTAN1):c.6960-8T>C 140241053 MedGen:CN239232;MedGen:CN169374 9 131394702 131394702 T C 168794 single nucleotide variant NM_001130438.2(SPTAN1):c.7309-15T>C 370705867 MedGen:C3150731,OMIM:613477 9 128633194 128633194 T C 168794 single nucleotide variant NM_001130438.2(SPTAN1):c.7309-15T>C 370705867 MedGen:C3150731,OMIM:613477 9 131395473 131395473 T C 178089 single nucleotide variant NM_001130438.2(SPTAN1):c.3720-5T>G 200543425 MedGen:CN239232;MedGen:CN169374 9 131367308 131367308 T G 178089 single nucleotide variant NM_001130438.2(SPTAN1):c.3720-5T>G 200543425 MedGen:CN239232;MedGen:CN169374 9 128605029 128605029 T G 188760 duplication SPTAN1, 9-BP DUP, NT6908 -1 MedGen:C3150731,OMIM:613477 na -1 -1 na na 190997 single nucleotide variant NM_001130438.2(SPTAN1):c.1337C>T (p.Ser446Phe) 794727023 MedGen:CN169374 9 131343214 131343214 C T 190997 single nucleotide variant NM_001130438.2(SPTAN1):c.1337C>T (p.Ser446Phe) 794727023 MedGen:CN169374 9 128580935 128580935 C T 191189 single nucleotide variant NM_001130438.2(SPTAN1):c.1511C>T (p.Ala504Val) 148727077 MedGen:CN239232;MedGen:CN169374 9 131344110 131344110 C T 191189 single nucleotide variant NM_001130438.2(SPTAN1):c.1511C>T (p.Ala504Val) 148727077 MedGen:CN239232;MedGen:CN169374 9 128581831 128581831 C T 192288 single nucleotide variant NM_001130438.2(SPTAN1):c.131A>G (p.Tyr44Cys) 368482631 MedGen:CN169374 9 131329150 131329150 A G 192288 single nucleotide variant NM_001130438.2(SPTAN1):c.131A>G (p.Tyr44Cys) 368482631 MedGen:CN169374 9 128566871 128566871 A G 192825 single nucleotide variant NM_001130438.2(SPTAN1):c.3133C>T (p.Arg1045Trp) 794727356 MedGen:CN169374 9 131353882 131353882 C T 192825 single nucleotide variant NM_001130438.2(SPTAN1):c.3133C>T (p.Arg1045Trp) 794727356 MedGen:CN169374 9 128591603 128591603 C T 192967 single nucleotide variant NM_001130438.2(SPTAN1):c.3414+4T>C 794727389 MedGen:CN169374 9 131356656 131356656 T C 192967 single nucleotide variant NM_001130438.2(SPTAN1):c.3414+4T>C 794727389 MedGen:CN169374 9 128594377 128594377 T C 194022 single nucleotide variant NM_001130438.2(SPTAN1):c.4283C>G (p.Ala1428Gly) 143166100 MedGen:CN239232;MedGen:CN169374 9 131370267 131370267 C G 194022 single nucleotide variant NM_001130438.2(SPTAN1):c.4283C>G (p.Ala1428Gly) 143166100 MedGen:CN239232;MedGen:CN169374 9 128607988 128607988 C G 194102 single nucleotide variant NM_001130438.2(SPTAN1):c.4580A>G (p.Asn1527Ser) 145038571 MedGen:CN239232;MedGen:CN169374 9 131371241 131371241 A G 194102 single nucleotide variant NM_001130438.2(SPTAN1):c.4580A>G (p.Asn1527Ser) 145038571 MedGen:CN239232;MedGen:CN169374 9 128608962 128608962 A G 194103 single nucleotide variant NM_001130438.2(SPTAN1):c.4558G>A (p.Gly1520Arg) 374801331 MedGen:CN169374 9 131371219 131371219 G A 194103 single nucleotide variant NM_001130438.2(SPTAN1):c.4558G>A (p.Gly1520Arg) 374801331 MedGen:CN169374 9 128608940 128608940 G A 194221 single nucleotide variant NM_001130438.2(SPTAN1):c.4950A>G (p.Gln1650=) 375199636 MedGen:CN169374 9 131374432 131374432 A G 194221 single nucleotide variant NM_001130438.2(SPTAN1):c.4950A>G (p.Gln1650=) 375199636 MedGen:CN169374 9 128612153 128612153 A G 195149 single nucleotide variant NM_001130438.2(SPTAN1):c.7233C>T (p.Ser2411=) 138985089 MedGen:CN169374 9 128632880 128632880 C T 195149 single nucleotide variant NM_001130438.2(SPTAN1):c.7233C>T (p.Ser2411=) 138985089 MedGen:CN169374 9 131395159 131395159 C T 195161 single nucleotide variant NM_001130438.2(SPTAN1):c.7392G>A (p.Ala2464=) 149318543 MedGen:CN239232;MedGen:CN169374 9 128633292 128633292 G A 195161 single nucleotide variant NM_001130438.2(SPTAN1):c.7392G>A (p.Ala2464=) 149318543 MedGen:CN239232;MedGen:CN169374 9 131395571 131395571 G A 195283 single nucleotide variant NM_001130438.2(SPTAN1):c.761C>A (p.Ala254Glu) 794727784 MedGen:CN169374 9 131339211 131339211 C A 195283 single nucleotide variant NM_001130438.2(SPTAN1):c.761C>A (p.Ala254Glu) 794727784 MedGen:CN169374 9 128576932 128576932 C A 195927 single nucleotide variant NM_001130438.2(SPTAN1):c.958C>T (p.Arg320Cys) 794727910 MedGen:CN169374 9 131339658 131339658 C T 195927 single nucleotide variant NM_001130438.2(SPTAN1):c.958C>T (p.Arg320Cys) 794727910 MedGen:CN169374 9 128577379 128577379 C T 202334 single nucleotide variant NM_001130438.2(SPTAN1):c.-34C>G 796053308 MedGen:CN169374 9 131314945 131314945 C G 202334 single nucleotide variant NM_001130438.2(SPTAN1):c.-34C>G 796053308 MedGen:CN169374 9 128552666 128552666 C G 202335 single nucleotide variant NM_001130438.2(SPTAN1):c.-4G>A 796053319 MedGen:CN169374 9 128552696 128552696 G A 202335 single nucleotide variant NM_001130438.2(SPTAN1):c.-4G>A 796053319 MedGen:CN169374 9 131314975 131314975 G A 202336 single nucleotide variant NM_001130438.2(SPTAN1):c.237+10A>G 746224717 MedGen:CN169374 9 131329266 131329266 A G 202336 single nucleotide variant NM_001130438.2(SPTAN1):c.237+10A>G 746224717 MedGen:CN169374 9 128566987 128566987 A G 202337 single nucleotide variant NM_001130438.2(SPTAN1):c.368G>A (p.Arg123His) 775634580 MedGen:CN169374 9 131336958 131336958 G A 202337 single nucleotide variant NM_001130438.2(SPTAN1):c.368G>A (p.Arg123His) 775634580 MedGen:CN169374 9 128574679 128574679 G A 202338 single nucleotide variant NM_001130438.2(SPTAN1):c.413T>C (p.Met138Thr) 767527240 MedGen:CN169374 9 131337003 131337003 T C 202338 single nucleotide variant NM_001130438.2(SPTAN1):c.413T>C (p.Met138Thr) 767527240 MedGen:CN169374 9 128574724 128574724 T C 202339 single nucleotide variant NM_001130438.2(SPTAN1):c.416G>A (p.Arg139Gln) 773288631 MedGen:CN169374 9 128574727 128574727 G A 202339 single nucleotide variant NM_001130438.2(SPTAN1):c.416G>A (p.Arg139Gln) 773288631 MedGen:CN169374 9 131337006 131337006 G A 202340 single nucleotide variant NM_001130438.2(SPTAN1):c.615T>A (p.Val205=) 763385120 MedGen:CN169374 9 131337588 131337588 T A 202340 single nucleotide variant NM_001130438.2(SPTAN1):c.615T>A (p.Val205=) 763385120 MedGen:CN169374 9 128575309 128575309 T A 202341 single nucleotide variant NM_001130438.2(SPTAN1):c.641A>G (p.Lys214Arg) 760419507 MedGen:CN169374 9 131337614 131337614 A G 202341 single nucleotide variant NM_001130438.2(SPTAN1):c.641A>G (p.Lys214Arg) 760419507 MedGen:CN169374 9 128575335 128575335 A G 202342 single nucleotide variant NM_001130438.2(SPTAN1):c.785+20T>C 529962403 MedGen:CN169374 9 131339255 131339255 T C 202342 single nucleotide variant NM_001130438.2(SPTAN1):c.785+20T>C 529962403 MedGen:CN169374 9 128576976 128576976 T C 202343 single nucleotide variant NM_001130438.2(SPTAN1):c.862G>C (p.Ala288Pro) 796053298 MedGen:CN169374 9 128577205 128577205 G C 202343 single nucleotide variant NM_001130438.2(SPTAN1):c.862G>C (p.Ala288Pro) 796053298 MedGen:CN169374 9 131339484 131339484 G C 202344 single nucleotide variant NM_001130438.2(SPTAN1):c.943T>C (p.Cys315Arg) 776064912 MedGen:CN169374 9 128577364 128577364 T C 202344 single nucleotide variant NM_001130438.2(SPTAN1):c.943T>C (p.Cys315Arg) 776064912 MedGen:CN169374 9 131339643 131339643 T C 202345 single nucleotide variant NM_001130438.2(SPTAN1):c.959G>A (p.Arg320His) 140076136 MedGen:CN169374 9 131339659 131339659 G A 202345 single nucleotide variant NM_001130438.2(SPTAN1):c.959G>A (p.Arg320His) 140076136 MedGen:CN169374 9 128577380 128577380 G A 202346 single nucleotide variant NM_001130438.2(SPTAN1):c.1040G>A (p.Arg347His) 796053314 MedGen:CN169374 9 131339740 131339740 G A 202346 single nucleotide variant NM_001130438.2(SPTAN1):c.1040G>A (p.Arg347His) 796053314 MedGen:CN169374 9 128577461 128577461 G A 202347 single nucleotide variant NM_001130438.2(SPTAN1):c.1154A>G (p.Asn385Ser) 2227863 MedGen:CN169374 9 128578178 128578178 A G 202347 single nucleotide variant NM_001130438.2(SPTAN1):c.1154A>G (p.Asn385Ser) 2227863 MedGen:CN169374 9 131340457 131340457 A G 202348 single nucleotide variant NM_001130438.2(SPTAN1):c.1247G>A (p.Ser416Asn) 773663318 MedGen:CN169374 9 131341941 131341941 G A 202348 single nucleotide variant NM_001130438.2(SPTAN1):c.1247G>A (p.Ser416Asn) 773663318 MedGen:CN169374 9 128579662 128579662 G A 202349 single nucleotide variant NM_001130438.2(SPTAN1):c.1348G>T (p.Ala450Ser) 768940761 MedGen:CN169374 9 131343225 131343225 G T 202349 single nucleotide variant NM_001130438.2(SPTAN1):c.1348G>T (p.Ala450Ser) 768940761 MedGen:CN169374 9 128580946 128580946 G T 202350 single nucleotide variant NM_001130438.2(SPTAN1):c.1362G>C (p.Glu454Asp) 144590741 MedGen:CN169374 9 131343239 131343239 G C 202350 single nucleotide variant NM_001130438.2(SPTAN1):c.1362G>C (p.Glu454Asp) 144590741 MedGen:CN169374 9 128580960 128580960 G C 202351 single nucleotide variant NM_001130438.2(SPTAN1):c.1375C>T (p.Arg459Cys) 772281075 MedGen:CN169374 9 131343252 131343252 C T 202351 single nucleotide variant NM_001130438.2(SPTAN1):c.1375C>T (p.Arg459Cys) 772281075 MedGen:CN169374 9 128580973 128580973 C T 202352 single nucleotide variant NM_001130438.2(SPTAN1):c.1418A>G (p.Tyr473Cys) 200948972 MedGen:CN169374 9 131343295 131343295 A G 202352 single nucleotide variant NM_001130438.2(SPTAN1):c.1418A>G (p.Tyr473Cys) 200948972 MedGen:CN169374 9 128581016 128581016 A G 202353 single nucleotide variant NM_001130438.2(SPTAN1):c.1621A>G (p.Met541Val) 796053315 MedGen:CN169374 9 131344806 131344806 A G 202353 single nucleotide variant NM_001130438.2(SPTAN1):c.1621A>G (p.Met541Val) 796053315 MedGen:CN169374 9 128582527 128582527 A G 202354 single nucleotide variant NM_001130438.2(SPTAN1):c.1688T>C (p.Met563Thr) 377387388 MedGen:CN169374 9 131345010 131345010 T C 202354 single nucleotide variant NM_001130438.2(SPTAN1):c.1688T>C (p.Met563Thr) 377387388 MedGen:CN169374 9 128582731 128582731 T C 202355 single nucleotide variant NM_001130438.2(SPTAN1):c.1689G>T (p.Met563Ile) 373973880 MedGen:CN169374 9 131345011 131345011 G T 202355 single nucleotide variant NM_001130438.2(SPTAN1):c.1689G>T (p.Met563Ile) 373973880 MedGen:CN169374 9 128582732 128582732 G T 202356 single nucleotide variant NM_001130438.2(SPTAN1):c.1770T>G (p.Asn590Lys) 781048881 MedGen:CN169374 9 131345092 131345092 T G 202356 single nucleotide variant NM_001130438.2(SPTAN1):c.1770T>G (p.Asn590Lys) 781048881 MedGen:CN169374 9 128582813 128582813 T G 202357 single nucleotide variant NM_001130438.2(SPTAN1):c.1799C>A (p.Ala600Asp) 745720603 MedGen:CN169374 9 131345121 131345121 C A 202357 single nucleotide variant NM_001130438.2(SPTAN1):c.1799C>A (p.Ala600Asp) 745720603 MedGen:CN169374 9 128582842 128582842 C A 202358 single nucleotide variant NM_001130438.2(SPTAN1):c.1806+4A>G 770046688 MedGen:CN169374 9 131345132 131345132 A G 202358 single nucleotide variant NM_001130438.2(SPTAN1):c.1806+4A>G 770046688 MedGen:CN169374 9 128582853 128582853 A G 202359 single nucleotide variant NM_001130438.2(SPTAN1):c.2209A>G (p.Ile737Val) 1129922 MedGen:CN169374 9 131346576 131346576 A G 202359 single nucleotide variant NM_001130438.2(SPTAN1):c.2209A>G (p.Ile737Val) 1129922 MedGen:CN169374 9 128584297 128584297 A G 202360 single nucleotide variant NM_001130438.2(SPTAN1):c.2221G>T (p.Ala741Ser) 200241514 MedGen:CN169374 9 131346588 131346588 G T 202360 single nucleotide variant NM_001130438.2(SPTAN1):c.2221G>T (p.Ala741Ser) 200241514 MedGen:CN169374 9 128584309 128584309 G T 202361 single nucleotide variant NM_001130438.2(SPTAN1):c.2225G>A (p.Arg742His) 146412583 MedGen:CN169374 9 131346592 131346592 G A 202361 single nucleotide variant NM_001130438.2(SPTAN1):c.2225G>A (p.Arg742His) 146412583 MedGen:CN169374 9 128584313 128584313 G A 202362 single nucleotide variant NM_001130438.2(SPTAN1):c.2233C>A (p.Gln745Lys) 769094437 MedGen:CN169374 9 128584321 128584321 C A 202362 single nucleotide variant NM_001130438.2(SPTAN1):c.2233C>A (p.Gln745Lys) 769094437 MedGen:CN169374 9 131346600 131346600 C A 202363 single nucleotide variant NM_001130438.2(SPTAN1):c.2344G>A (p.Asp782Asn) 199720383 MedGen:CN169374 9 131346711 131346711 G A 202363 single nucleotide variant NM_001130438.2(SPTAN1):c.2344G>A (p.Asp782Asn) 199720383 MedGen:CN169374 9 128584432 128584432 G A 202364 single nucleotide variant NM_001130438.2(SPTAN1):c.2402G>A (p.Arg801Gln) 774283264 MedGen:CN169374 9 131346769 131346769 G A 202364 single nucleotide variant NM_001130438.2(SPTAN1):c.2402G>A (p.Arg801Gln) 774283264 MedGen:CN169374 9 128584490 128584490 G A 202365 single nucleotide variant NM_001130438.2(SPTAN1):c.2422G>A (p.Ala808Thr) 766491965 MedGen:CN169374 9 131346789 131346789 G A 202365 single nucleotide variant NM_001130438.2(SPTAN1):c.2422G>A (p.Ala808Thr) 766491965 MedGen:CN169374 9 128584510 128584510 G A 202366 single nucleotide variant NM_001130438.2(SPTAN1):c.2588C>G (p.Ala863Gly) 775545003 MedGen:CN169374 9 131348054 131348054 C G 202366 single nucleotide variant NM_001130438.2(SPTAN1):c.2588C>G (p.Ala863Gly) 775545003 MedGen:CN169374 9 128585775 128585775 C G 202367 single nucleotide variant NM_001130438.2(SPTAN1):c.2660A>G (p.Glu887Gly) 796053299 MedGen:CN169374 9 131348126 131348126 A G 202367 single nucleotide variant NM_001130438.2(SPTAN1):c.2660A>G (p.Glu887Gly) 796053299 MedGen:CN169374 9 128585847 128585847 A G 202368 deletion NM_001130438.2(SPTAN1):c.2666_2668delCTC (p.Ser889del) 796053332 MedGen:CN221809 9 131348132 131348134 CTC - 202368 deletion NM_001130438.2(SPTAN1):c.2666_2668delCTC (p.Ser889del) 796053332 MedGen:CN221809 9 128585853 128585855 CTC - 202369 single nucleotide variant NM_001130438.2(SPTAN1):c.2753A>G (p.Tyr918Cys) 138275607 MedGen:CN169374 9 131348219 131348219 A G 202369 single nucleotide variant NM_001130438.2(SPTAN1):c.2753A>G (p.Tyr918Cys) 138275607 MedGen:CN169374 9 128585940 128585940 A G 202370 single nucleotide variant NM_001130438.2(SPTAN1):c.2778+20G>A 201463905 MedGen:CN169374 9 131348264 131348264 G A 202370 single nucleotide variant NM_001130438.2(SPTAN1):c.2778+20G>A 201463905 MedGen:CN169374 9 128585985 128585985 G A 202371 single nucleotide variant NM_001130438.2(SPTAN1):c.2857G>T (p.Ala953Ser) 796053300 MedGen:CN169374 9 131349963 131349963 G T 202371 single nucleotide variant NM_001130438.2(SPTAN1):c.2857G>T (p.Ala953Ser) 796053300 MedGen:CN169374 9 128587684 128587684 G T 202372 single nucleotide variant NM_001130438.2(SPTAN1):c.2861A>C (p.Gln954Pro) 796053301 MedGen:CN169374 9 131349967 131349967 A C 202372 single nucleotide variant NM_001130438.2(SPTAN1):c.2861A>C (p.Gln954Pro) 796053301 MedGen:CN169374 9 128587688 128587688 A C 202373 single nucleotide variant NM_001130438.2(SPTAN1):c.2888C>T (p.Thr963Met) 375623472 MedGen:CN169374 9 128588825 128588825 C T 202373 single nucleotide variant NM_001130438.2(SPTAN1):c.2888C>T (p.Thr963Met) 375623472 MedGen:CN169374 9 131351104 131351104 C T 202374 single nucleotide variant NM_001130438.2(SPTAN1):c.2950C>T (p.Arg984Ter) 749672064 MedGen:CN221809 9 131351166 131351166 C T 202374 single nucleotide variant NM_001130438.2(SPTAN1):c.2950C>T (p.Arg984Ter) 749672064 MedGen:CN221809 9 128588887 128588887 C T 202375 single nucleotide variant NM_001130438.2(SPTAN1):c.3057G>A (p.Ala1019=) 759833805 MedGen:CN169374 9 131353806 131353806 G A 202375 single nucleotide variant NM_001130438.2(SPTAN1):c.3057G>A (p.Ala1019=) 759833805 MedGen:CN169374 9 128591527 128591527 G A 202376 single nucleotide variant NM_001130438.2(SPTAN1):c.3079G>A (p.Ala1027Thr) 779759134 MedGen:CN169374 9 128591549 128591549 G A 202376 single nucleotide variant NM_001130438.2(SPTAN1):c.3079G>A (p.Ala1027Thr) 779759134 MedGen:CN169374 9 131353828 131353828 G A 202377 single nucleotide variant NM_001130438.2(SPTAN1):c.3101A>G (p.Asn1034Ser) 773333330 MedGen:CN169374 9 128591571 128591571 A G 202377 single nucleotide variant NM_001130438.2(SPTAN1):c.3101A>G (p.Asn1034Ser) 773333330 MedGen:CN169374 9 131353850 131353850 A G 202378 single nucleotide variant NM_001130438.2(SPTAN1):c.3118G>A (p.Gly1040Ser) 796053302 MedGen:CN169374 9 131353867 131353867 G A 202378 single nucleotide variant NM_001130438.2(SPTAN1):c.3118G>A (p.Gly1040Ser) 796053302 MedGen:CN169374 9 128591588 128591588 G A 202380 deletion NM_001130438.2(SPTAN1):c.3215+15_3215+16delAG 551595039 MedGen:CN169374 9 128593057 128593058 AG - 202380 deletion NM_001130438.2(SPTAN1):c.3215+15_3215+16delAG 551595039 MedGen:CN169374 9 131355336 131355337 AG - 202381 single nucleotide variant NM_001130438.2(SPTAN1):c.3248G>A (p.Arg1083His) 369611161 MedGen:CN169374 9 128594207 128594207 G A 202381 single nucleotide variant NM_001130438.2(SPTAN1):c.3248G>A (p.Arg1083His) 369611161 MedGen:CN169374 9 131356486 131356486 G A 202382 single nucleotide variant NM_001130438.2(SPTAN1):c.3337G>A (p.Ala1113Thr) 143309753 MedGen:CN169374 9 131356575 131356575 G A 202382 single nucleotide variant NM_001130438.2(SPTAN1):c.3337G>A (p.Ala1113Thr) 143309753 MedGen:CN169374 9 128594296 128594296 G A 202383 single nucleotide variant NM_001130438.2(SPTAN1):c.3490G>A (p.Ala1164Thr) 796053316 MedGen:CN169374 9 128598475 128598475 G A 202383 single nucleotide variant NM_001130438.2(SPTAN1):c.3490G>A (p.Ala1164Thr) 796053316 MedGen:CN169374 9 131360754 131360754 G A 202384 single nucleotide variant NM_001130438.2(SPTAN1):c.3518A>C (p.Gln1173Pro) 141696651 MedGen:CN169374 9 131360782 131360782 A C 202384 single nucleotide variant NM_001130438.2(SPTAN1):c.3518A>C (p.Gln1173Pro) 141696651 MedGen:CN169374 9 128598503 128598503 A C 202385 single nucleotide variant NM_001130438.2(SPTAN1):c.3572C>T (p.Pro1191Leu) 796053304 MedGen:CN169374 9 131362387 131362387 C T 202385 single nucleotide variant NM_001130438.2(SPTAN1):c.3572C>T (p.Pro1191Leu) 796053304 MedGen:CN169374 9 128600108 128600108 C T 202386 single nucleotide variant NM_001130438.2(SPTAN1):c.3574T>C (p.Trp1192Arg) 796053305 MedGen:CN169374 9 131362389 131362389 T C 202386 single nucleotide variant NM_001130438.2(SPTAN1):c.3574T>C (p.Trp1192Arg) 796053305 MedGen:CN169374 9 128600110 128600110 T C 202387 single nucleotide variant NM_001130438.2(SPTAN1):c.3640C>T (p.Arg1214Cys) 756099218 MedGen:CN169374 9 128604338 128604338 C T 202387 single nucleotide variant NM_001130438.2(SPTAN1):c.3640C>T (p.Arg1214Cys) 756099218 MedGen:CN169374 9 131366617 131366617 C T 202388 single nucleotide variant NM_001130438.2(SPTAN1):c.3664G>T (p.Ala1222Ser) 796053306 MedGen:CN169374 9 131366641 131366641 G T 202388 single nucleotide variant NM_001130438.2(SPTAN1):c.3664G>T (p.Ala1222Ser) 796053306 MedGen:CN169374 9 128604362 128604362 G T 202389 single nucleotide variant NM_001130438.2(SPTAN1):c.3779A>G (p.Asn1260Ser) 552623597 MedGen:CN169374 9 131367372 131367372 A G 202389 single nucleotide variant NM_001130438.2(SPTAN1):c.3779A>G (p.Asn1260Ser) 552623597 MedGen:CN169374 9 128605093 128605093 A G 202390 single nucleotide variant NM_001130438.2(SPTAN1):c.3803T>C (p.Val1268Ala) 146153626 MedGen:CN239232;MedGen:CN169374 9 131367396 131367396 T C 202390 single nucleotide variant NM_001130438.2(SPTAN1):c.3803T>C (p.Val1268Ala) 146153626 MedGen:CN239232;MedGen:CN169374 9 128605117 128605117 T C 202391 single nucleotide variant NM_001130438.2(SPTAN1):c.3967A>G (p.Ser1323Gly) 796053307 MedGen:CN169374 9 131367677 131367677 A G 202391 single nucleotide variant NM_001130438.2(SPTAN1):c.3967A>G (p.Ser1323Gly) 796053307 MedGen:CN169374 9 128605398 128605398 A G 202392 single nucleotide variant NM_001130438.2(SPTAN1):c.4039G>A (p.Asp1347Asn) 574740801 MedGen:CN169374 9 131367749 131367749 G A 202392 single nucleotide variant NM_001130438.2(SPTAN1):c.4039G>A (p.Asp1347Asn) 574740801 MedGen:CN169374 9 128605470 128605470 G A 202393 single nucleotide variant NM_001130438.2(SPTAN1):c.4046G>A (p.Arg1349Gln) 149367932 MedGen:CN169374 9 131367756 131367756 G A 202393 single nucleotide variant NM_001130438.2(SPTAN1):c.4046G>A (p.Arg1349Gln) 149367932 MedGen:CN169374 9 128605477 128605477 G A 202394 single nucleotide variant NM_001130438.2(SPTAN1):c.4046+4C>T 370704701 MedGen:CN169374 9 128605481 128605481 C T 202394 single nucleotide variant NM_001130438.2(SPTAN1):c.4046+4C>T 370704701 MedGen:CN169374 9 131367760 131367760 C T 202395 single nucleotide variant NM_001130438.2(SPTAN1):c.4046+5G>A 541570752 MedGen:CN169374 9 131367761 131367761 G A 202395 single nucleotide variant NM_001130438.2(SPTAN1):c.4046+5G>A 541570752 MedGen:CN169374 9 128605482 128605482 G A 202396 single nucleotide variant NM_001130438.2(SPTAN1):c.4116C>T (p.Thr1372=) 148554113 MedGen:C0393706,Orphanet:ORPHA1934;MedGen:CN169374 9 131369952 131369952 C T 202396 single nucleotide variant NM_001130438.2(SPTAN1):c.4116C>T (p.Thr1372=) 148554113 MedGen:C0393706,Orphanet:ORPHA1934;MedGen:CN169374 9 128607673 128607673 C T 202397 single nucleotide variant NM_001130438.2(SPTAN1):c.4188G>A (p.Gln1396=) 763156575 MedGen:CN169374 9 131370172 131370172 G A 202397 single nucleotide variant NM_001130438.2(SPTAN1):c.4188G>A (p.Gln1396=) 763156575 MedGen:CN169374 9 128607893 128607893 G A 202398 single nucleotide variant NM_001130438.2(SPTAN1):c.4261G>T (p.Asp1421Tyr) 749333383 MedGen:CN169374 9 131370245 131370245 G T 202398 single nucleotide variant NM_001130438.2(SPTAN1):c.4261G>T (p.Asp1421Tyr) 749333383 MedGen:CN169374 9 128607966 128607966 G T 202399 single nucleotide variant NM_001130438.2(SPTAN1):c.4280G>A (p.Arg1427His) 762216368 MedGen:CN169374 9 131370264 131370264 G A 202399 single nucleotide variant NM_001130438.2(SPTAN1):c.4280G>A (p.Arg1427His) 762216368 MedGen:CN169374 9 128607985 128607985 G A 202400 single nucleotide variant NM_001130438.2(SPTAN1):c.4309C>T (p.Arg1437Cys) 373033857 MedGen:CN169374 9 128608014 128608014 C T 202400 single nucleotide variant NM_001130438.2(SPTAN1):c.4309C>T (p.Arg1437Cys) 373033857 MedGen:CN169374 9 131370293 131370293 C T 202401 single nucleotide variant NM_001130438.2(SPTAN1):c.4310G>A (p.Arg1437His) 752347538 MedGen:CN169374 9 131370294 131370294 G A 202401 single nucleotide variant NM_001130438.2(SPTAN1):c.4310G>A (p.Arg1437His) 752347538 MedGen:CN169374 9 128608015 128608015 G A 202402 single nucleotide variant NM_001130438.2(SPTAN1):c.4525G>A (p.Asp1509Asn) 757714696 MedGen:CN169374 9 131371186 131371186 G A 202402 single nucleotide variant NM_001130438.2(SPTAN1):c.4525G>A (p.Asp1509Asn) 757714696 MedGen:CN169374 9 128608907 128608907 G A 202403 single nucleotide variant NM_001130438.2(SPTAN1):c.4527C>A (p.Asp1509Glu) 139113273 MedGen:CN169374 9 128608909 128608909 C A 202403 single nucleotide variant NM_001130438.2(SPTAN1):c.4527C>A (p.Asp1509Glu) 139113273 MedGen:CN169374 9 131371188 131371188 C A 202404 single nucleotide variant NM_001130438.2(SPTAN1):c.4576C>T (p.Arg1526Cys) 796053317 MedGen:CN169374 9 131371237 131371237 C T 202404 single nucleotide variant NM_001130438.2(SPTAN1):c.4576C>T (p.Arg1526Cys) 796053317 MedGen:CN169374 9 128608958 128608958 C T 202405 single nucleotide variant NM_001130438.2(SPTAN1):c.4604G>A (p.Arg1535His) 745394212 MedGen:CN239232;MedGen:CN169374 9 131371409 131371409 G A 202405 single nucleotide variant NM_001130438.2(SPTAN1):c.4604G>A (p.Arg1535His) 745394212 MedGen:CN239232;MedGen:CN169374 9 128609130 128609130 G A 202406 single nucleotide variant NM_001130438.2(SPTAN1):c.4673G>A (p.Arg1558Gln) 796053318 MedGen:CN169374 9 131371478 131371478 G A 202406 single nucleotide variant NM_001130438.2(SPTAN1):c.4673G>A (p.Arg1558Gln) 796053318 MedGen:CN169374 9 128609199 128609199 G A 202407 single nucleotide variant NM_001130438.2(SPTAN1):c.4958C>A (p.Ala1653Glu) 374723711 MedGen:CN169374 9 131374440 131374440 C A 202407 single nucleotide variant NM_001130438.2(SPTAN1):c.4958C>A (p.Ala1653Glu) 374723711 MedGen:CN169374 9 128612161 128612161 C A 202408 single nucleotide variant NM_001130438.2(SPTAN1):c.5171G>T (p.Ser1724Ile) 375195855 MedGen:CN169374 9 131377933 131377933 G T 202408 single nucleotide variant NM_001130438.2(SPTAN1):c.5171G>T (p.Ser1724Ile) 375195855 MedGen:CN169374 9 128615654 128615654 G T 202409 single nucleotide variant NM_001130438.2(SPTAN1):c.5239A>G (p.Ile1747Val) 780622472 MedGen:CN169374 9 128615722 128615722 A G 202409 single nucleotide variant NM_001130438.2(SPTAN1):c.5239A>G (p.Ile1747Val) 780622472 MedGen:CN169374 9 131378001 131378001 A G 202410 single nucleotide variant NM_001130438.2(SPTAN1):c.5350T>C (p.Trp1784Arg) 796053309 MedGen:CN169374 9 128615833 128615833 T C 202410 single nucleotide variant NM_001130438.2(SPTAN1):c.5350T>C (p.Trp1784Arg) 796053309 MedGen:CN169374 9 131378112 131378112 T C 202411 single nucleotide variant NM_001130438.2(SPTAN1):c.5470G>A (p.Ala1824Thr) 796053320 MedGen:CN169374 9 128617752 128617752 G A 202411 single nucleotide variant NM_001130438.2(SPTAN1):c.5470G>A (p.Ala1824Thr) 796053320 MedGen:CN169374 9 131380031 131380031 G A 202412 single nucleotide variant NM_001130438.2(SPTAN1):c.5545C>T (p.Arg1849Trp) 148402616 MedGen:CN169374 9 131380332 131380332 C T 202412 single nucleotide variant NM_001130438.2(SPTAN1):c.5545C>T (p.Arg1849Trp) 148402616 MedGen:CN169374 9 128618053 128618053 C T 202413 single nucleotide variant NM_001130438.2(SPTAN1):c.5648A>G (p.Asn1883Ser) 200248814 MedGen:CN169374 9 128618918 128618918 A G 202413 single nucleotide variant NM_001130438.2(SPTAN1):c.5648A>G (p.Asn1883Ser) 200248814 MedGen:CN169374 9 131381197 131381197 A G 202414 single nucleotide variant NM_001130438.2(SPTAN1):c.5664A>C (p.Glu1888Asp) 796053321 MedGen:CN221809 9 131381213 131381213 A C 202414 single nucleotide variant NM_001130438.2(SPTAN1):c.5664A>C (p.Glu1888Asp) 796053321 MedGen:CN221809 9 128618934 128618934 A C 202415 single nucleotide variant NM_001130438.2(SPTAN1):c.5809A>C (p.Asn1937His) 796053337 MedGen:CN169374 9 128621233 128621233 A C 202415 single nucleotide variant NM_001130438.2(SPTAN1):c.5809A>C (p.Asn1937His) 796053337 MedGen:CN169374 9 131383512 131383512 A C 202416 single nucleotide variant NM_001130438.2(SPTAN1):c.5922G>C (p.Lys1974Asn) 777407223 MedGen:CN169374 9 131386696 131386696 G C 202416 single nucleotide variant NM_001130438.2(SPTAN1):c.5922G>C (p.Lys1974Asn) 777407223 MedGen:CN169374 9 128624417 128624417 G C 202417 single nucleotide variant NM_001130438.2(SPTAN1):c.6014A>G (p.Lys2005Arg) 754276364 MedGen:CN169374 9 131387403 131387403 A G 202417 single nucleotide variant NM_001130438.2(SPTAN1):c.6014A>G (p.Lys2005Arg) 754276364 MedGen:CN169374 9 128625124 128625124 A G 202418 single nucleotide variant NM_001130438.2(SPTAN1):c.6055C>A (p.Leu2019Ile) 796053310 MedGen:CN169374 9 128625165 128625165 C A 202418 single nucleotide variant NM_001130438.2(SPTAN1):c.6055C>A (p.Leu2019Ile) 796053310 MedGen:CN169374 9 131387444 131387444 C A 202419 single nucleotide variant NM_001130438.2(SPTAN1):c.6103C>T (p.Gln2035Ter) 145129059 MedGen:CN221809 9 128625802 128625802 C T 202419 single nucleotide variant NM_001130438.2(SPTAN1):c.6103C>T (p.Gln2035Ter) 145129059 MedGen:CN221809 9 131388081 131388081 C T 202420 single nucleotide variant NM_001130438.2(SPTAN1):c.6148G>A (p.Ala2050Thr) 762645157 MedGen:CN169374 9 131388126 131388126 G A 202420 single nucleotide variant NM_001130438.2(SPTAN1):c.6148G>A (p.Ala2050Thr) 762645157 MedGen:CN169374 9 128625847 128625847 G A 202421 single nucleotide variant NM_001130438.2(SPTAN1):c.6183C>T (p.Ala2061=) 775886527 MedGen:CN169374 9 128625882 128625882 C T 202421 single nucleotide variant NM_001130438.2(SPTAN1):c.6183C>T (p.Ala2061=) 775886527 MedGen:CN169374 9 131388161 131388161 C T 202433 single nucleotide variant NM_001130438.2(SPTAN1):c.6488A>G (p.Lys2163Arg) 144289764 MedGen:CN169374 9 128626599 128626599 A G 202422 single nucleotide variant NM_001130438.2(SPTAN1):c.6190G>A (p.Ala2064Thr) 201411901 MedGen:C0393706,Orphanet:ORPHA1934;MedGen:CN169374 9 131388168 131388168 G A 202422 single nucleotide variant NM_001130438.2(SPTAN1):c.6190G>A (p.Ala2064Thr) 201411901 MedGen:C0393706,Orphanet:ORPHA1934;MedGen:CN169374 9 128625889 128625889 G A 202423 single nucleotide variant NM_001130438.2(SPTAN1):c.6193T>C (p.Ser2065Pro) 796053311 MedGen:CN169374 9 128625892 128625892 T C 202423 single nucleotide variant NM_001130438.2(SPTAN1):c.6193T>C (p.Ser2065Pro) 796053311 MedGen:CN169374 9 131388171 131388171 T C 202424 single nucleotide variant NM_001130438.2(SPTAN1):c.6208T>G (p.Trp2070Gly) 766038302 MedGen:CN169374 9 131388186 131388186 T G 202424 single nucleotide variant NM_001130438.2(SPTAN1):c.6208T>G (p.Trp2070Gly) 766038302 MedGen:CN169374 9 128625907 128625907 T G 202425 single nucleotide variant NM_001130438.2(SPTAN1):c.6235G>A (p.Ala2079Thr) 377253398 MedGen:CN169374 9 131388213 131388213 G A 202425 single nucleotide variant NM_001130438.2(SPTAN1):c.6235G>A (p.Ala2079Thr) 377253398 MedGen:CN169374 9 128625934 128625934 G A 202426 single nucleotide variant NM_001130438.2(SPTAN1):c.6270C>A (p.His2090Gln) 370102482 MedGen:CN169374 9 128625969 128625969 C A 202426 single nucleotide variant NM_001130438.2(SPTAN1):c.6270C>A (p.His2090Gln) 370102482 MedGen:CN169374 9 131388248 131388248 C A 202427 indel NM_001130438.2(SPTAN1):c.6273_6274delCCinsTT (p.Arg2092Cys) 796053333 MedGen:CN169374 9 131388251 131388252 CC TT 202427 indel NM_001130438.2(SPTAN1):c.6273_6274delCCinsTT (p.Arg2092Cys) 796053333 MedGen:CN169374 9 128625972 128625973 CC TT 202428 single nucleotide variant NM_001130438.2(SPTAN1):c.6308A>G (p.Lys2103Arg) 796053322 MedGen:CN169374 9 128626419 128626419 A G 202428 single nucleotide variant NM_001130438.2(SPTAN1):c.6308A>G (p.Lys2103Arg) 796053322 MedGen:CN169374 9 131388698 131388698 A G 202429 single nucleotide variant NM_001130438.2(SPTAN1):c.6408G>C (p.Glu2136Asp) 199930602 MedGen:CN169374 9 131388798 131388798 G C 202429 single nucleotide variant NM_001130438.2(SPTAN1):c.6408G>C (p.Glu2136Asp) 199930602 MedGen:CN169374 9 128626519 128626519 G C 202430 single nucleotide variant NM_001130438.2(SPTAN1):c.6416A>C (p.Asp2139Ala) 796053312 MedGen:CN169374 9 128626527 128626527 A C 202430 single nucleotide variant NM_001130438.2(SPTAN1):c.6416A>C (p.Asp2139Ala) 796053312 MedGen:CN169374 9 131388806 131388806 A C 202431 single nucleotide variant NM_001130438.2(SPTAN1):c.6424C>T (p.Arg2142Cys) 796053323 MedGen:CN221809;MedGen:CN169374 9 128626535 128626535 C T 202431 single nucleotide variant NM_001130438.2(SPTAN1):c.6424C>T (p.Arg2142Cys) 796053323 MedGen:CN221809;MedGen:CN169374 9 131388814 131388814 C T 202432 single nucleotide variant NM_001130438.2(SPTAN1):c.6425G>A (p.Arg2142His) 796053324 MedGen:CN169374 9 128626536 128626536 G A 202432 single nucleotide variant NM_001130438.2(SPTAN1):c.6425G>A (p.Arg2142His) 796053324 MedGen:CN169374 9 131388815 131388815 G A 202433 single nucleotide variant NM_001130438.2(SPTAN1):c.6488A>G (p.Lys2163Arg) 144289764 MedGen:CN169374 9 131388878 131388878 A G 202434 single nucleotide variant NM_001130438.2(SPTAN1):c.6496C>T (p.Arg2166Cys) 775190610 MedGen:CN169374 9 131388886 131388886 C T 202434 single nucleotide variant NM_001130438.2(SPTAN1):c.6496C>T (p.Arg2166Cys) 775190610 MedGen:CN169374 9 128626607 128626607 C T 202435 single nucleotide variant NM_001130438.2(SPTAN1):c.6608G>A (p.Arg2203Gln) 560719289 MedGen:CN169374 9 131389696 131389696 G A 202435 single nucleotide variant NM_001130438.2(SPTAN1):c.6608G>A (p.Arg2203Gln) 560719289 MedGen:CN169374 9 128627417 128627417 G A 202436 single nucleotide variant NM_001130438.2(SPTAN1):c.6690-17G>A 796053325 MedGen:CN169374 9 131390187 131390187 G A 202436 single nucleotide variant NM_001130438.2(SPTAN1):c.6690-17G>A 796053325 MedGen:CN169374 9 128627908 128627908 G A 202437 single nucleotide variant NM_001130438.2(SPTAN1):c.6794G>C (p.Ser2265Thr) 796053326 MedGen:CN169374 9 131394437 131394437 G C 202437 single nucleotide variant NM_001130438.2(SPTAN1):c.6794G>C (p.Ser2265Thr) 796053326 MedGen:CN169374 9 128632158 128632158 G C 202438 single nucleotide variant NM_001130438.2(SPTAN1):c.6899A>T (p.Asp2300Val) 796053327 MedGen:CN221809 9 128632263 128632263 A T 202438 single nucleotide variant NM_001130438.2(SPTAN1):c.6899A>T (p.Asp2300Val) 796053327 MedGen:CN221809 9 131394542 131394542 A T 202439 deletion NM_001130438.2(SPTAN1):c.6908_6916delACCAGCTGG (p.Asp2303_Leu2305del) 796053340 MedGen:CN221809 9 128632272 128632280 ACCAGCTGG - 202439 deletion NM_001130438.2(SPTAN1):c.6908_6916delACCAGCTGG (p.Asp2303_Leu2305del) 796053340 MedGen:CN221809 9 131394551 131394559 ACCAGCTGG - 202440 duplication NM_001130438.2(SPTAN1):c.6910_6918dupCAGCTGGGC (p.Gly2306_Met2307insGlnLeuGly) 796053334 MedGen:CN221809 9 128632274 128632282 CAGCTGGGC CAGCTGGGCCAGCTGGGC 202440 duplication NM_001130438.2(SPTAN1):c.6910_6918dupCAGCTGGGC (p.Gly2306_Met2307insGlnLeuGly) 796053334 MedGen:CN221809 9 131394553 131394561 CAGCTGGGC CAGCTGGGCCAGCTGGGC 202441 single nucleotide variant NM_001130438.2(SPTAN1):c.6922C>T (p.Arg2308Cys) 796053328 MedGen:CN221809 9 131394565 131394565 C T 202441 single nucleotide variant NM_001130438.2(SPTAN1):c.6922C>T (p.Arg2308Cys) 796053328 MedGen:CN221809 9 128632286 128632286 C T 202442 duplication NM_001130438.2(SPTAN1):c.6923_6928dupGCATGC (p.Met2309_Gln2310insArgMet) 796053335 MedGen:CN221809 9 128632287 128632292 GCATGC GCATGCGCATGC 202442 duplication NM_001130438.2(SPTAN1):c.6923_6928dupGCATGC (p.Met2309_Gln2310insArgMet) 796053335 MedGen:CN221809 9 131394566 131394571 GCATGC GCATGCGCATGC 202443 single nucleotide variant NM_001130438.2(SPTAN1):c.6938T>C (p.Leu2313Pro) 796053338 MedGen:CN221809 9 128632302 128632302 T C 202443 single nucleotide variant NM_001130438.2(SPTAN1):c.6938T>C (p.Leu2313Pro) 796053338 MedGen:CN221809 9 131394581 131394581 T C 202444 indel NM_001130438.2(SPTAN1):c.7014-16_7014-13delinsAGGT 796053336 MedGen:CN169374 9 131394835 131394838 CGGC AGGT 202444 indel NM_001130438.2(SPTAN1):c.7014-16_7014-13delinsAGGT 796053336 MedGen:CN169374 9 128632556 128632559 CGGC AGGT 202445 single nucleotide variant NM_001130438.2(SPTAN1):c.7025A>G (p.Lys2342Arg) 796053339 MedGen:CN169374 9 131394862 131394862 A G 202445 single nucleotide variant NM_001130438.2(SPTAN1):c.7025A>G (p.Lys2342Arg) 796053339 MedGen:CN169374 9 128632583 128632583 A G 202446 single nucleotide variant NM_001130438.2(SPTAN1):c.7102G>C (p.Glu2368Gln) 796053329 MedGen:CN169374 9 128632660 128632660 G C 202446 single nucleotide variant NM_001130438.2(SPTAN1):c.7102G>C (p.Glu2368Gln) 796053329 MedGen:CN169374 9 131394939 131394939 G C 202447 single nucleotide variant NM_001130438.2(SPTAN1):c.7121C>G (p.Pro2374Arg) 796053330 MedGen:CN169374 9 131394958 131394958 C G 202447 single nucleotide variant NM_001130438.2(SPTAN1):c.7121C>G (p.Pro2374Arg) 796053330 MedGen:CN169374 9 128632679 128632679 C G 202448 single nucleotide variant NM_001130438.2(SPTAN1):c.7129G>A (p.Glu2377Lys) 757162652 MedGen:CN169374 9 128632687 128632687 G A 202448 single nucleotide variant NM_001130438.2(SPTAN1):c.7129G>A (p.Glu2377Lys) 757162652 MedGen:CN169374 9 131394966 131394966 G A 202449 single nucleotide variant NM_001130438.2(SPTAN1):c.7135A>G (p.Ile2379Val) 770358940 MedGen:CN169374 9 128632693 128632693 A G 202449 single nucleotide variant NM_001130438.2(SPTAN1):c.7135A>G (p.Ile2379Val) 770358940 MedGen:CN169374 9 131394972 131394972 A G 202450 single nucleotide variant NM_001130438.2(SPTAN1):c.7145C>T (p.Thr2382Met) 796053331 MedGen:CN169374 9 131394982 131394982 C T 202450 single nucleotide variant NM_001130438.2(SPTAN1):c.7145C>T (p.Thr2382Met) 796053331 MedGen:CN169374 9 128632703 128632703 C T 202451 single nucleotide variant NM_001130438.2(SPTAN1):c.7284C>T (p.Tyr2428=) 201348505 MedGen:CN169374 9 128632931 128632931 C T 202451 single nucleotide variant NM_001130438.2(SPTAN1):c.7284C>T (p.Tyr2428=) 201348505 MedGen:CN169374 9 131395210 131395210 C T 202453 deletion NM_001130438.2(SPTAN1):c.7309-12_7309-11delCT 770948927 MedGen:CN239232;MedGen:CN169374 9 128633197 128633198 CT - 202453 deletion NM_001130438.2(SPTAN1):c.7309-12_7309-11delCT 770948927 MedGen:CN239232;MedGen:CN169374 9 131395476 131395477 CT - 202454 single nucleotide variant NM_001130438.2(SPTAN1):c.7319G>A (p.Arg2440Gln) 141980692 MedGen:CN169374 9 131395498 131395498 G A 202454 single nucleotide variant NM_001130438.2(SPTAN1):c.7319G>A (p.Arg2440Gln) 141980692 MedGen:CN169374 9 128633219 128633219 G A 202455 single nucleotide variant NM_001130438.2(SPTAN1):c.7330G>A (p.Asp2444Asn) 147149360 MedGen:CN169374 9 131395509 131395509 G A 202455 single nucleotide variant NM_001130438.2(SPTAN1):c.7330G>A (p.Asp2444Asn) 147149360 MedGen:CN169374 9 128633230 128633230 G A 202456 single nucleotide variant NM_001130438.2(SPTAN1):c.7396G>A (p.Asp2466Asn) 367776636 MedGen:CN169374 9 131395575 131395575 G A 202456 single nucleotide variant NM_001130438.2(SPTAN1):c.7396G>A (p.Asp2466Asn) 367776636 MedGen:CN169374 9 128633296 128633296 G A 202457 single nucleotide variant NM_001130438.2(SPTAN1):c.7402G>A (p.Val2468Met) 754362594 MedGen:CN169374 9 131395581 131395581 G A 202457 single nucleotide variant NM_001130438.2(SPTAN1):c.7402G>A (p.Val2468Met) 754362594 MedGen:CN169374 9 128633302 128633302 G A 207615 single nucleotide variant NM_001130438.2(SPTAN1):c.237+4C>T 371350283 MedGen:CN169374 9 128566981 128566981 C T 207615 single nucleotide variant NM_001130438.2(SPTAN1):c.237+4C>T 371350283 MedGen:CN169374 9 131329260 131329260 C T 207616 single nucleotide variant NM_001130438.2(SPTAN1):c.3042T>G (p.Gly1014=) 150870424 MedGen:CN169374 9 131353791 131353791 T G 207616 single nucleotide variant NM_001130438.2(SPTAN1):c.3042T>G (p.Gly1014=) 150870424 MedGen:CN169374 9 128591512 128591512 T G 207617 single nucleotide variant NM_001130438.2(SPTAN1):c.3156-10C>T 745910160 MedGen:CN169374 9 128592973 128592973 C T 207617 single nucleotide variant NM_001130438.2(SPTAN1):c.3156-10C>T 745910160 MedGen:CN169374 9 131355252 131355252 C T 207618 duplication NM_001130438.2(SPTAN1):c.3579+3_3579+4dup 797046004 MedGen:C0393706,Orphanet:ORPHA1934;MedGen:CN169374 9 131362397 131362398 AA AAAA 207618 duplication NM_001130438.2(SPTAN1):c.3579+3_3579+4dup 797046004 MedGen:C0393706,Orphanet:ORPHA1934;MedGen:CN169374 9 128600118 128600119 AA AAAA 237298 single nucleotide variant NM_001130438.2(SPTAN1):c.7414C>T (p.Arg2472Cys) 759975874 MedGen:CN221809 9 128633314 128633314 C T 237298 single nucleotide variant NM_001130438.2(SPTAN1):c.7414C>T (p.Arg2472Cys) 759975874 MedGen:CN221809 9 131395593 131395593 C T 240467 single nucleotide variant NM_001130438.2(SPTAN1):c.1534T>G (p.Phe512Val) 147444364 MedGen:C0393706,Orphanet:ORPHA1934 9 131344133 131344133 T G 240467 single nucleotide variant NM_001130438.2(SPTAN1):c.1534T>G (p.Phe512Val) 147444364 MedGen:C0393706,Orphanet:ORPHA1934 9 128581854 128581854 T G 240468 single nucleotide variant NM_001130438.2(SPTAN1):c.5867T>C (p.Met1956Thr) 878854246 MedGen:C0393706,Orphanet:ORPHA1934 9 131386641 131386641 T C 240468 single nucleotide variant NM_001130438.2(SPTAN1):c.5867T>C (p.Met1956Thr) 878854246 MedGen:C0393706,Orphanet:ORPHA1934 9 128624362 128624362 T C 240469 single nucleotide variant NM_001130438.2(SPTAN1):c.6763C>T (p.Arg2255Cys) 372779649 MedGen:C0393706,Orphanet:ORPHA1934;MedGen:CN169374 9 128632127 128632127 C T 240469 single nucleotide variant NM_001130438.2(SPTAN1):c.6763C>T (p.Arg2255Cys) 372779649 MedGen:C0393706,Orphanet:ORPHA1934;MedGen:CN169374 9 131394406 131394406 C T 240470 single nucleotide variant NM_001130438.2(SPTAN1):c.7090C>T (p.Leu2364=) 374893683 MedGen:C0393706,Orphanet:ORPHA1934 9 131394927 131394927 C T 240470 single nucleotide variant NM_001130438.2(SPTAN1):c.7090C>T (p.Leu2364=) 374893683 MedGen:C0393706,Orphanet:ORPHA1934 9 128632648 128632648 C T 268082 deletion NM_001130438.2(SPTAN1):c.5358-8_5358-7delTC 886042719 MedGen:CN169374 9 131379911 131379912 TC - 268082 deletion NM_001130438.2(SPTAN1):c.5358-8_5358-7delTC 886042719 MedGen:CN169374 9 128617632 128617633 TC - 268561 single nucleotide variant NM_001130438.2(SPTAN1):c.3720-7C>T 773023641 MedGen:CN169374 9 131367306 131367306 C T 268561 single nucleotide variant NM_001130438.2(SPTAN1):c.3720-7C>T 773023641 MedGen:CN169374 9 128605027 128605027 C T 269723 single nucleotide variant NM_001130438.2(SPTAN1):c.5106G>A (p.Leu1702=) 373491498 MedGen:CN169374 9 131375722 131375722 G A 269723 single nucleotide variant NM_001130438.2(SPTAN1):c.5106G>A (p.Leu1702=) 373491498 MedGen:CN169374 9 128613443 128613443 G A 271185 single nucleotide variant NM_001130438.2(SPTAN1):c.3974G>T (p.Gly1325Val) 886043530 MedGen:CN169374 9 131367684 131367684 G T 271185 single nucleotide variant NM_001130438.2(SPTAN1):c.3974G>T (p.Gly1325Val) 886043530 MedGen:CN169374 9 128605405 128605405 G T 271244 single nucleotide variant NM_001130438.2(SPTAN1):c.6652C>T (p.His2218Tyr) 886043546 MedGen:CN169374 9 131389740 131389740 C T 271244 single nucleotide variant NM_001130438.2(SPTAN1):c.6652C>T (p.His2218Tyr) 886043546 MedGen:CN169374 9 128627461 128627461 C T 271437 single nucleotide variant NM_001130438.2(SPTAN1):c.3078C>T (p.Pro1026=) 779993051 MedGen:CN169374 9 131353827 131353827 C T 271437 single nucleotide variant NM_001130438.2(SPTAN1):c.3078C>T (p.Pro1026=) 779993051 MedGen:CN169374 9 128591548 128591548 C T 271794 single nucleotide variant NM_001130438.2(SPTAN1):c.2666C>G (p.Ser889Cys) 886043660 MedGen:CN169374 9 131348132 131348132 C G 271794 single nucleotide variant NM_001130438.2(SPTAN1):c.2666C>G (p.Ser889Cys) 886043660 MedGen:CN169374 9 128585853 128585853 C G 272552 single nucleotide variant NM_001130438.2(SPTAN1):c.1528G>A (p.Glu510Lys) 769320860 MedGen:CN169374 9 131344127 131344127 G A 272552 single nucleotide variant NM_001130438.2(SPTAN1):c.1528G>A (p.Glu510Lys) 769320860 MedGen:CN169374 9 128581848 128581848 G A 272715 single nucleotide variant NM_001130438.2(SPTAN1):c.2343C>T (p.Ala781=) 34084388 MedGen:CN169374 9 131346710 131346710 C T 272715 single nucleotide variant NM_001130438.2(SPTAN1):c.2343C>T (p.Ala781=) 34084388 MedGen:CN169374 9 128584431 128584431 C T 273745 single nucleotide variant NM_001130438.2(SPTAN1):c.3060C>T (p.Tyr1020=) 530361602 MedGen:CN239232;MedGen:CN169374 9 131353809 131353809 C T 273745 single nucleotide variant NM_001130438.2(SPTAN1):c.3060C>T (p.Tyr1020=) 530361602 MedGen:CN239232;MedGen:CN169374 9 128591530 128591530 C T 306930 single nucleotide variant NM_001130438.2(SPTAN1):c.-77A>G 570950377 MedGen:CN239232 9 128552623 128552623 A G 306930 single nucleotide variant NM_001130438.2(SPTAN1):c.-77A>G 570950377 MedGen:CN239232 9 131314902 131314902 A G 306945 single nucleotide variant NM_001130438.2(SPTAN1):c.-74C>T 539544825 MedGen:CN239232 9 128552626 128552626 C T 306945 single nucleotide variant NM_001130438.2(SPTAN1):c.-74C>T 539544825 MedGen:CN239232 9 131314905 131314905 C T 306948 single nucleotide variant NM_001130438.2(SPTAN1):c.-71C>T 886063497 MedGen:CN239232 9 128552629 128552629 C T 306948 single nucleotide variant NM_001130438.2(SPTAN1):c.-71C>T 886063497 MedGen:CN239232 9 131314908 131314908 C T 306949 single nucleotide variant NM_001130438.2(SPTAN1):c.505-14T>C 372907681 MedGen:CN239232 9 128575185 128575185 T C 306949 single nucleotide variant NM_001130438.2(SPTAN1):c.505-14T>C 372907681 MedGen:CN239232 9 131337464 131337464 T C 306959 single nucleotide variant NM_001130438.2(SPTAN1):c.3495G>A (p.Glu1165=) 886063504 MedGen:CN239232 9 128598480 128598480 G A 306959 single nucleotide variant NM_001130438.2(SPTAN1):c.3495G>A (p.Glu1165=) 886063504 MedGen:CN239232 9 131360759 131360759 G A 306961 single nucleotide variant NM_001130438.2(SPTAN1):c.3762A>G (p.Gln1254=) 533042543 MedGen:CN239232 9 128605076 128605076 A G 306961 single nucleotide variant NM_001130438.2(SPTAN1):c.3762A>G (p.Gln1254=) 533042543 MedGen:CN239232 9 131367355 131367355 A G 306969 single nucleotide variant NM_001130438.2(SPTAN1):c.4239C>T (p.Ser1413=) 150097844 MedGen:CN239232 9 128607944 128607944 C T 306969 single nucleotide variant NM_001130438.2(SPTAN1):c.4239C>T (p.Ser1413=) 150097844 MedGen:CN239232 9 131370223 131370223 C T 306973 single nucleotide variant NM_001130438.2(SPTAN1):c.4344+8T>C 886063505 MedGen:CN239232 9 128608057 128608057 T C 306973 single nucleotide variant NM_001130438.2(SPTAN1):c.4344+8T>C 886063505 MedGen:CN239232 9 131370336 131370336 T C 306981 single nucleotide variant NM_001130438.2(SPTAN1):c.5044-4C>T 749484552 MedGen:CN239232 9 128613377 128613377 C T 306981 single nucleotide variant NM_001130438.2(SPTAN1):c.5044-4C>T 749484552 MedGen:CN239232 9 131375656 131375656 C T 306983 single nucleotide variant NM_001130438.2(SPTAN1):c.5724C>T (p.Ala1908=) 886063507 MedGen:CN239232 9 128618994 128618994 C T 306983 single nucleotide variant NM_001130438.2(SPTAN1):c.5724C>T (p.Ala1908=) 886063507 MedGen:CN239232 9 131381273 131381273 C T 306984 single nucleotide variant NM_001130438.2(SPTAN1):c.6532G>A (p.Glu2178Lys) 886063508 MedGen:CN239232 9 128626643 128626643 G A 306984 single nucleotide variant NM_001130438.2(SPTAN1):c.6532G>A (p.Glu2178Lys) 886063508 MedGen:CN239232 9 131388922 131388922 G A 306985 single nucleotide variant NM_001130438.2(SPTAN1):c.6876C>T (p.Thr2292=) 886063509 MedGen:CN239232 9 131394519 131394519 C T 306985 single nucleotide variant NM_001130438.2(SPTAN1):c.6876C>T (p.Thr2292=) 886063509 MedGen:CN239232 9 128632240 128632240 C T 306992 single nucleotide variant NM_001130438.2(SPTAN1):c.6959+6C>T 542848685 MedGen:CN239232 9 128632329 128632329 C T 306992 single nucleotide variant NM_001130438.2(SPTAN1):c.6959+6C>T 542848685 MedGen:CN239232 9 131394608 131394608 C T 306999 single nucleotide variant NM_001130438.2(SPTAN1):c.7305C>T (p.Tyr2435=) 527570862 MedGen:CN239232 9 128632952 128632952 C T 306999 single nucleotide variant NM_001130438.2(SPTAN1):c.7305C>T (p.Tyr2435=) 527570862 MedGen:CN239232 9 131395231 131395231 C T 307000 single nucleotide variant NM_001130438.2(SPTAN1):c.*46C>T 367989148 MedGen:CN239232 9 128633380 128633380 C T 307000 single nucleotide variant NM_001130438.2(SPTAN1):c.*46C>T 367989148 MedGen:CN239232 9 131395659 131395659 C T 307004 single nucleotide variant NM_001130438.2(SPTAN1):c.*111G>T 74995813 MedGen:CN239232 9 128633445 128633445 G T 307004 single nucleotide variant NM_001130438.2(SPTAN1):c.*111G>T 74995813 MedGen:CN239232 9 131395724 131395724 G T 307012 single nucleotide variant NM_001130438.2(SPTAN1):c.*148C>T 113912557 MedGen:CN239232 9 128633482 128633482 C T 307012 single nucleotide variant NM_001130438.2(SPTAN1):c.*148C>T 113912557 MedGen:CN239232 9 131395761 131395761 C T 307016 single nucleotide variant NM_001130438.2(SPTAN1):c.*155G>A 11543348 MedGen:CN239232 9 128633489 128633489 G A 307016 single nucleotide variant NM_001130438.2(SPTAN1):c.*155G>A 11543348 MedGen:CN239232 9 131395768 131395768 G A 307018 single nucleotide variant NM_001130438.2(SPTAN1):c.*166A>G 886063512 MedGen:CN239232 9 128633500 128633500 A G 307018 single nucleotide variant NM_001130438.2(SPTAN1):c.*166A>G 886063512 MedGen:CN239232 9 131395779 131395779 A G 307022 single nucleotide variant NM_001130438.2(SPTAN1):c.*284A>G 886063513 MedGen:CN239232 9 128633618 128633618 A G 307022 single nucleotide variant NM_001130438.2(SPTAN1):c.*284A>G 886063513 MedGen:CN239232 9 131395897 131395897 A G 311102 single nucleotide variant NM_001130438.2(SPTAN1):c.-139A>G 886063495 MedGen:CN239232 9 128552561 128552561 A G 311102 single nucleotide variant NM_001130438.2(SPTAN1):c.-139A>G 886063495 MedGen:CN239232 9 131314840 131314840 A G 311118 single nucleotide variant NM_001130438.2(SPTAN1):c.-12C>A 886063499 MedGen:CN239232 9 128552688 128552688 C A 311118 single nucleotide variant NM_001130438.2(SPTAN1):c.-12C>A 886063499 MedGen:CN239232 9 131314967 131314967 C A 311121 single nucleotide variant NM_001130438.2(SPTAN1):c.2719C>T (p.Arg907Trp) 886063502 MedGen:CN239232 9 128585906 128585906 C T 311121 single nucleotide variant NM_001130438.2(SPTAN1):c.2719C>T (p.Arg907Trp) 886063502 MedGen:CN239232 9 131348185 131348185 C T 311123 single nucleotide variant NM_001130438.2(SPTAN1):c.3786A>G (p.Gly1262=) 199902257 MedGen:CN239232 9 128605100 128605100 A G 311123 single nucleotide variant NM_001130438.2(SPTAN1):c.3786A>G (p.Gly1262=) 199902257 MedGen:CN239232 9 131367379 131367379 A G 311125 single nucleotide variant NM_001130438.2(SPTAN1):c.4047-14G>T 558154123 MedGen:CN239232 9 128607590 128607590 G T 311125 single nucleotide variant NM_001130438.2(SPTAN1):c.4047-14G>T 558154123 MedGen:CN239232 9 131369869 131369869 G T 311126 single nucleotide variant NM_001130438.2(SPTAN1):c.5013G>A (p.Gly1671=) 886063506 MedGen:CN239232 9 128612216 128612216 G A 311126 single nucleotide variant NM_001130438.2(SPTAN1):c.5013G>A (p.Gly1671=) 886063506 MedGen:CN239232 9 131374495 131374495 G A 311128 single nucleotide variant NM_001130438.2(SPTAN1):c.6654C>T (p.His2218=) 372825476 MedGen:CN239232 9 128627463 128627463 C T 311128 single nucleotide variant NM_001130438.2(SPTAN1):c.6654C>T (p.His2218=) 372825476 MedGen:CN239232 9 131389742 131389742 C T 311129 deletion NM_001130438.2(SPTAN1):c.7160+10_7160+13delTTAA 886063510 MedGen:CN239232 9 128632728 128632731 TTAA - 311129 deletion NM_001130438.2(SPTAN1):c.7160+10_7160+13delTTAA 886063510 MedGen:CN239232 9 131395007 131395010 TTAA - 311132 single nucleotide variant NM_001130438.2(SPTAN1):c.*149G>A 188688870 MedGen:CN239232 9 128633483 128633483 G A 311132 single nucleotide variant NM_001130438.2(SPTAN1):c.*149G>A 188688870 MedGen:CN239232 9 131395762 131395762 G A 316687 single nucleotide variant NM_001130438.2(SPTAN1):c.-73C>T 886063496 MedGen:CN239232 9 128552627 128552627 C T 316687 single nucleotide variant NM_001130438.2(SPTAN1):c.-73C>T 886063496 MedGen:CN239232 9 131314906 131314906 C T 316696 single nucleotide variant NM_001130438.2(SPTAN1):c.922G>A (p.Glu308Lys) 886063500 MedGen:CN239232 9 128577265 128577265 G A 316696 single nucleotide variant NM_001130438.2(SPTAN1):c.922G>A (p.Glu308Lys) 886063500 MedGen:CN239232 9 131339544 131339544 G A 316703 single nucleotide variant NM_001130438.2(SPTAN1):c.2940G>C (p.Glu980Asp) 886063503 MedGen:CN239232 9 128588877 128588877 G C 316703 single nucleotide variant NM_001130438.2(SPTAN1):c.2940G>C (p.Glu980Asp) 886063503 MedGen:CN239232 9 131351156 131351156 G C 316704 single nucleotide variant NM_001130438.2(SPTAN1):c.4045C>T (p.Arg1349Trp) 771862017 MedGen:CN239232 9 128605476 128605476 C T 316704 single nucleotide variant NM_001130438.2(SPTAN1):c.4045C>T (p.Arg1349Trp) 771862017 MedGen:CN239232 9 131367755 131367755 C T 316715 single nucleotide variant NM_001130438.2(SPTAN1):c.4958C>T (p.Ala1653Val) 374723711 MedGen:CN239232 9 128612161 128612161 C T 316715 single nucleotide variant NM_001130438.2(SPTAN1):c.4958C>T (p.Ala1653Val) 374723711 MedGen:CN239232 9 131374440 131374440 C T 316718 single nucleotide variant NM_001130438.2(SPTAN1):c.6081C>T (p.Asp2027=) 150801649 MedGen:CN239232 9 128625780 128625780 C T 316718 single nucleotide variant NM_001130438.2(SPTAN1):c.6081C>T (p.Asp2027=) 150801649 MedGen:CN239232 9 131388059 131388059 C T 316731 single nucleotide variant NM_001130438.2(SPTAN1):c.6738C>T (p.Leu2246=) 762644827 MedGen:CN239232 9 128630351 128630351 C T 316731 single nucleotide variant NM_001130438.2(SPTAN1):c.6738C>T (p.Leu2246=) 762644827 MedGen:CN239232 9 131392630 131392630 C T 316732 single nucleotide variant NM_001130438.2(SPTAN1):c.*20A>G 886063511 MedGen:CN239232 9 128633354 128633354 A G 316732 single nucleotide variant NM_001130438.2(SPTAN1):c.*20A>G 886063511 MedGen:CN239232 9 131395633 131395633 A G 317101 single nucleotide variant NM_001130438.2(SPTAN1):c.-27A>G 886063498 MedGen:CN239232 9 128552673 128552673 A G 317101 single nucleotide variant NM_001130438.2(SPTAN1):c.-27A>G 886063498 MedGen:CN239232 9 131314952 131314952 A G 317106 single nucleotide variant NM_001130438.2(SPTAN1):c.1221+11C>G 113357847 MedGen:CN239232 9 128578256 128578256 C G 317106 single nucleotide variant NM_001130438.2(SPTAN1):c.1221+11C>G 113357847 MedGen:CN239232 9 131340535 131340535 C G 317108 single nucleotide variant NM_001130438.2(SPTAN1):c.1595A>G (p.Lys532Arg) 886063501 MedGen:CN239232 9 128582501 128582501 A G 317108 single nucleotide variant NM_001130438.2(SPTAN1):c.1595A>G (p.Lys532Arg) 886063501 MedGen:CN239232 9 131344780 131344780 A G 317113 single nucleotide variant NM_001130438.2(SPTAN1):c.1806+15G>T 372203791 MedGen:CN239232 9 128582864 128582864 G T 317113 single nucleotide variant NM_001130438.2(SPTAN1):c.1806+15G>T 372203791 MedGen:CN239232 9 131345143 131345143 G T 317134 single nucleotide variant NM_001130438.2(SPTAN1):c.2037G>C (p.Gln679His) 777716023 MedGen:CN239232 9 128583813 128583813 G C 317134 single nucleotide variant NM_001130438.2(SPTAN1):c.2037G>C (p.Gln679His) 777716023 MedGen:CN239232 9 131346092 131346092 G C 317137 single nucleotide variant NM_001130438.2(SPTAN1):c.6078T>C (p.Phe2026=) 776794393 MedGen:CN239232 9 128625777 128625777 T C 317137 single nucleotide variant NM_001130438.2(SPTAN1):c.6078T>C (p.Phe2026=) 776794393 MedGen:CN239232 9 131388056 131388056 T C 359773 single nucleotide variant NM_001130438.2(SPTAN1):c.3161G>A (p.Arg1054His) 561564501 MedGen:CN169374 9 128592988 128592988 G A 359773 single nucleotide variant NM_001130438.2(SPTAN1):c.3161G>A (p.Arg1054His) 561564501 MedGen:CN169374 9 131355267 131355267 G A

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000197694.14 SPTAN1 182810