Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.26477119delCA2576699484OTOFc.2523+56del (n.2523+56del)
c.282+56del (n.282+56del)
c.453+56del (n.453+56del)
c.2568+56del (n.2568+56del)
 gnomAD v4
2g.26477119G>ACA1239829558OTOFc.2523+53C>T (n.2523+53C>T)
c.282+53C>T (n.282+53C>T)
c.453+53C>T (n.453+53C>T)
c.2568+53C>T (n.2568+53C>T)
 dbSNP gnomAD v4
2g.26477119G=CA1239829557OTOFc.2523+53C= (n.2523+53C=)
c.282+53C= (n.282+53C=)
c.453+53C= (n.453+53C=)
c.2568+53C= (n.2568+53C=)
2g.26477119G>TCA1239829559OTOFc.2523+53C>A (n.2523+53C>A)
c.282+53C>A (n.282+53C>A)
c.453+53C>A (n.453+53C>A)
c.2568+53C>A (n.2568+53C>A)
 dbSNP gnomAD v4
2g.26477119_26477120delinsGCCA1239829560OTOFc.2523+52_2523+53delinsGC (n.2523+52_2523+53delinsGC)
c.282+52_282+53delinsGC (n.282+52_282+53delinsGC)
c.453+52_453+53delinsGC (n.453+52_453+53delinsGC)
c.2568+52_2568+53delinsGC (n.2568+52_2568+53delinsGC)
2g.26477120C>ACA2658237730OTOFc.2523+52G>T (n.2523+52G>T)
c.282+52G>T (n.282+52G>T)
c.453+52G>T (n.453+52G>T)
c.2568+52G>T (n.2568+52G>T)
 gnomAD v4
2g.26477120C>TCA2658237731OTOFc.2523+52G>A (n.2523+52G>A)
c.282+52G>A (n.282+52G>A)
c.453+52G>A (n.453+52G>A)
c.2568+52G>A (n.2568+52G>A)
 gnomAD v4
2g.26477123delCA44398284OTOFc.2523+52del (n.2523+52del)
c.282+52del (n.282+52del)
c.453+52del (n.453+52del)
c.2568+52del (n.2568+52del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26477121C>GCA2658237733OTOFc.2523+51G>C (n.2523+51G>C)
c.282+51G>C (n.282+51G>C)
c.453+51G>C (n.453+51G>C)
c.2568+51G>C (n.2568+51G>C)
 gnomAD v4
2g.26477121C>TCA2658237734OTOFc.2523+51G>A (n.2523+51G>A)
c.282+51G>A (n.282+51G>A)
c.453+51G>A (n.453+51G>A)
c.2568+51G>A (n.2568+51G>A)
 gnomAD v4
2g.26477122C>ACA2576699485OTOFc.2523+50G>T (n.2523+50G>T)
c.282+50G>T (n.282+50G>T)
c.453+50G>T (n.453+50G>T)
c.2568+50G>T (n.2568+50G>T)
 gnomAD v4
2g.26477123_26477125delinsCAGCA1239829562OTOFc.2523+47_2523+49delinsCTG (n.2523+47_2523+49delinsCTG)
c.282+47_282+49delinsCTG (n.282+47_282+49delinsCTG)
c.453+47_453+49delinsCTG (n.453+47_453+49delinsCTG)
c.2568+47_2568+49delinsCTG (n.2568+47_2568+49delinsCTG)
2g.26477128_26477129delCA767279285OTOFc.2523+47_2523+48del (n.2523+47_2523+48del)
c.282+47_282+48del (n.282+47_282+48del)
c.453+47_453+48del (n.453+47_453+48del)
c.2568+47_2568+48del (n.2568+47_2568+48del)
 dbSNP gnomAD v3 gnomAD v4
2g.26477125G>ACA2658237738OTOFc.2523+47C>T (n.2523+47C>T)
c.282+47C>T (n.282+47C>T)
c.453+47C>T (n.453+47C>T)
c.2568+47C>T (n.2568+47C>T)
 gnomAD v4
2g.26477125G>TCA2658237739OTOFc.2523+47C>A (n.2523+47C>A)
c.282+47C>A (n.282+47C>A)
c.453+47C>A (n.453+47C>A)
c.2568+47C>A (n.2568+47C>A)
 gnomAD v4
2g.26477126A>GCA2658237740OTOFc.2523+46T>C (n.2523+46T>C)
c.282+46T>C (n.282+46T>C)
c.453+46T>C (n.453+46T>C)
c.2568+46T>C (n.2568+46T>C)
 gnomAD v4
2g.26477126_26477127insCTACA2749240610OTOFc.2523+46_2523+47insAGT (n.2523+46_2523+47insAGT)
c.282+46_282+47insAGT (n.282+46_282+47insAGT)
c.453+46_453+47insAGT (n.453+46_453+47insAGT)
c.2568+46_2568+47insAGT (n.2568+46_2568+47insAGT)
2g.26477127G>ACA2749240611OTOFc.2523+45C>T (n.2523+45C>T)
c.282+45C>T (n.282+45C>T)
c.453+45C>T (n.453+45C>T)
c.2568+45C>T (n.2568+45C>T)
2g.26477127G>CCA2557773821OTOFc.2523+45C>G (n.2523+45C>G)
c.282+45C>G (n.282+45C>G)
c.453+45C>G (n.453+45C>G)
c.2568+45C>G (n.2568+45C>G)
2g.26477128A>CCA2749240612OTOFc.2523+44T>G (n.2523+44T>G)
c.282+44T>G (n.282+44T>G)
c.453+44T>G (n.453+44T>G)
c.2568+44T>G (n.2568+44T>G)
2g.26477128A>GCA2658237744OTOFc.2523+44T>C (n.2523+44T>C)
c.282+44T>C (n.282+44T>C)
c.453+44T>C (n.453+44T>C)
c.2568+44T>C (n.2568+44T>C)
 gnomAD v4
2g.26477129G>ACA2658237747OTOFc.2523+43C>T (n.2523+43C>T)
c.282+43C>T (n.282+43C>T)
c.453+43C>T (n.453+43C>T)
c.2568+43C>T (n.2568+43C>T)
 gnomAD v4
2g.26477129G>TCA2576699486OTOFc.2523+43C>A (n.2523+43C>A)
c.282+43C>A (n.282+43C>A)
c.453+43C>A (n.453+43C>A)
c.2568+43C>A (n.2568+43C>A)
 gnomAD v4
2g.26477130C>ACA2576699487OTOFc.2523+42G>T (n.2523+42G>T)
c.282+42G>T (n.282+42G>T)
c.453+42G>T (n.453+42G>T)
c.2568+42G>T (n.2568+42G>T)
 gnomAD v4
2g.26477130C>TCA2658237749OTOFc.2523+42G>A (n.2523+42G>A)
c.282+42G>A (n.282+42G>A)
c.453+42G>A (n.453+42G>A)
c.2568+42G>A (n.2568+42G>A)
 gnomAD v4
2g.26477131C>GCA2658237750OTOFc.2523+41G>C (n.2523+41G>C)
c.282+41G>C (n.282+41G>C)
c.453+41G>C (n.453+41G>C)
c.2568+41G>C (n.2568+41G>C)
 gnomAD v4
2g.26477131C>TCA2658237752OTOFc.2523+41G>A (n.2523+41G>A)
c.282+41G>A (n.282+41G>A)
c.453+41G>A (n.453+41G>A)
c.2568+41G>A (n.2568+41G>A)
 gnomAD v4
2g.26477133G>ACA2576699488OTOFc.2523+39C>T (n.2523+39C>T)
c.282+39C>T (n.282+39C>T)
c.453+39C>T (n.453+39C>T)
c.2568+39C>T (n.2568+39C>T)
 gnomAD v4
2g.26477133G>TCA2658237753OTOFc.2523+39C>A (n.2523+39C>A)
c.282+39C>A (n.282+39C>A)
c.453+39C>A (n.453+39C>A)
c.2568+39C>A (n.2568+39C>A)
 gnomAD v4
2g.26477133_26477134delinsGCCA1239829565OTOFc.2523+38_2523+39delinsGC (n.2523+38_2523+39delinsGC)
c.282+38_282+39delinsGC (n.282+38_282+39delinsGC)
c.453+38_453+39delinsGC (n.453+38_453+39delinsGC)
c.2568+38_2568+39delinsGC (n.2568+38_2568+39delinsGC)
2g.26477134C=CA1239829568OTOFc.2523+38G= (n.2523+38G=)
c.282+38G= (n.282+38G=)
c.453+38G= (n.453+38G=)
c.2568+38G= (n.2568+38G=)
2g.26477134C>TCA1563872OTOFc.2523+38G>A (n.2523+38G>A)
c.282+38G>A (n.282+38G>A)
c.453+38G>A (n.453+38G>A)
c.2568+38G>A (n.2568+38G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26477136delCA1563871OTOFc.2523+38del (n.2523+38del)
c.282+38del (n.282+38del)
c.453+38del (n.453+38del)
c.2568+38del (n.2568+38del)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26477135C>ACA1563874OTOFc.2523+37G>T (n.2523+37G>T)
c.282+37G>T (n.282+37G>T)
c.453+37G>T (n.453+37G>T)
c.2568+37G>T (n.2568+37G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477135C=CA1239829570OTOFc.2523+37G= (n.2523+37G=)
c.282+37G= (n.282+37G=)
c.453+37G= (n.453+37G=)
c.2568+37G= (n.2568+37G=)
2g.26477135C>TCA1563873OTOFc.2523+37G>A (n.2523+37G>A)
c.282+37G>A (n.282+37G>A)
c.453+37G>A (n.453+37G>A)
c.2568+37G>A (n.2568+37G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477136C>ACA1563876OTOFc.2523+36G>T (n.2523+36G>T)
c.282+36G>T (n.282+36G>T)
c.453+36G>T (n.453+36G>T)
c.2568+36G>T (n.2568+36G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26477136C=CA1239829573OTOFc.2523+36G= (n.2523+36G=)
c.282+36G= (n.282+36G=)
c.453+36G= (n.453+36G=)
c.2568+36G= (n.2568+36G=)
2g.26477136C>GCA1563875OTOFc.2523+36G>C (n.2523+36G>C)
c.282+36G>C (n.282+36G>C)
c.453+36G>C (n.453+36G>C)
c.2568+36G>C (n.2568+36G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26477136C>TCA2658237763OTOFc.2523+36G>A (n.2523+36G>A)
c.282+36G>A (n.282+36G>A)
c.453+36G>A (n.453+36G>A)
c.2568+36G>A (n.2568+36G>A)
 gnomAD v4
2g.26477136_26477138delCA2658237764OTOFc.2523+34_2523+36del (n.2523+34_2523+36del)
c.282+34_282+36del (n.282+34_282+36del)
c.453+34_453+36del (n.453+34_453+36del)
c.2568+34_2568+36del (n.2568+34_2568+36del)
 gnomAD v4
2g.26477137T>CCA1563877OTOFc.2523+35A>G (n.2523+35A>G)
c.282+35A>G (n.282+35A>G)
c.453+35A>G (n.453+35A>G)
c.2568+35A>G (n.2568+35A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26477137T>GCA2658237768OTOFc.2523+35A>C (n.2523+35A>C)
c.282+35A>C (n.282+35A>C)
c.453+35A>C (n.453+35A>C)
c.2568+35A>C (n.2568+35A>C)
 gnomAD v4
2g.26477137T=CA1239829576OTOFc.2523+35A= (n.2523+35A=)
c.282+35A= (n.282+35A=)
c.453+35A= (n.453+35A=)
c.2568+35A= (n.2568+35A=)
2g.26477138G>CCA767279298OTOFc.2523+34C>G (n.2523+34C>G)
c.282+34C>G (n.282+34C>G)
c.453+34C>G (n.453+34C>G)
c.2568+34C>G (n.2568+34C>G)
 dbSNP gnomAD v3 gnomAD v4
2g.26477138G=CA1239829577OTOFc.2523+34C= (n.2523+34C=)
c.282+34C= (n.282+34C=)
c.453+34C= (n.453+34C=)
c.2568+34C= (n.2568+34C=)
2g.26477138G>TCA2658237772OTOFc.2523+34C>A (n.2523+34C>A)
c.282+34C>A (n.282+34C>A)
c.453+34C>A (n.453+34C>A)
c.2568+34C>A (n.2568+34C>A)
 gnomAD v4
2g.26477139G>TCA2658237776OTOFc.2523+33C>A (n.2523+33C>A)
c.282+33C>A (n.282+33C>A)
c.453+33C>A (n.453+33C>A)
c.2568+33C>A (n.2568+33C>A)
 gnomAD v4
2g.26477140A=CA1239829579OTOFc.2523+32T= (n.2523+32T=)
c.282+32T= (n.282+32T=)
c.453+32T= (n.453+32T=)
c.2568+32T= (n.2568+32T=)
2g.26477140A>GCA1563878OTOFc.2523+32T>C (n.2523+32T>C)
c.282+32T>C (n.282+32T>C)
c.453+32T>C (n.453+32T>C)
c.2568+32T>C (n.2568+32T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26477141T>GCA2576699489OTOFc.2523+31A>C (n.2523+31A>C)
c.282+31A>C (n.282+31A>C)
c.453+31A>C (n.453+31A>C)
c.2568+31A>C (n.2568+31A>C)
 gnomAD v4
2g.26477142G>TCA2658237778OTOFc.2523+30C>A (n.2523+30C>A)
c.282+30C>A (n.282+30C>A)
c.453+30C>A (n.453+30C>A)
c.2568+30C>A (n.2568+30C>A)
 gnomAD v4
2g.26477143delCA2576699490OTOFc.2523+29del (n.2523+29del)
c.282+29del (n.282+29del)
c.453+29del (n.453+29del)
c.2568+29del (n.2568+29del)
2g.26477143A>GCA2658237779OTOFc.2523+29T>C (n.2523+29T>C)
c.282+29T>C (n.282+29T>C)
c.453+29T>C (n.453+29T>C)
c.2568+29T>C (n.2568+29T>C)
 gnomAD v4
2g.26477144G>ACA2576699491OTOFc.2523+28C>T (n.2523+28C>T)
c.282+28C>T (n.282+28C>T)
c.453+28C>T (n.453+28C>T)
c.2568+28C>T (n.2568+28C>T)
 gnomAD v4
2g.26477144G>TCA2576699492OTOFc.2523+28C>A (n.2523+28C>A)
c.282+28C>A (n.282+28C>A)
c.453+28C>A (n.453+28C>A)
c.2568+28C>A (n.2568+28C>A)
 gnomAD v4
2g.26477145G>ACA2576699493OTOFc.2523+27C>T (n.2523+27C>T)
c.282+27C>T (n.282+27C>T)
c.453+27C>T (n.453+27C>T)
c.2568+27C>T (n.2568+27C>T)
 gnomAD v4
2g.26477145G>TCA2576699494OTOFc.2523+27C>A (n.2523+27C>A)
c.282+27C>A (n.282+27C>A)
c.453+27C>A (n.453+27C>A)
c.2568+27C>A (n.2568+27C>A)
2g.26477146C>ACA44398295OTOFc.2523+26G>T (n.2523+26G>T)
c.282+26G>T (n.282+26G>T)
c.453+26G>T (n.453+26G>T)
c.2568+26G>T (n.2568+26G>T)
 dbSNP gnomAD v2 gnomAD v4
2g.26477146C=CA1239829580OTOFc.2523+26G= (n.2523+26G=)
c.282+26G= (n.282+26G=)
c.453+26G= (n.453+26G=)
c.2568+26G= (n.2568+26G=)
2g.26477149_26477164delinsAGCCCCGACCCCTTGGCA1239829583OTOFc.2523+8_2523+23delinsCCAAGGGGTCGGGGCT (n.2523+8_2523+23delinsCCAAGGGGTCGGGGCT)
c.282+8_282+23delinsCCAAGGGGTCGGGGCT (n.282+8_282+23delinsCCAAGGGGTCGGGGCT)
c.453+8_453+23delinsCCAAGGGGTCGGGGCT (n.453+8_453+23delinsCCAAGGGGTCGGGGCT)
c.2568+8_2568+23delinsCCAAGGGGTCGGGGCT (n.2568+8_2568+23delinsCCAAGGGGTCGGGGCT)
2g.26477150G>ACA531761879OTOFc.2523+22C>T (n.2523+22C>T)
c.282+22C>T (n.282+22C>T)
c.453+22C>T (n.453+22C>T)
c.2568+22C>T (n.2568+22C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.26477150G=CA1239829586OTOFc.2523+22C= (n.2523+22C=)
c.282+22C= (n.282+22C=)
c.453+22C= (n.453+22C=)
c.2568+22C= (n.2568+22C=)
2g.26477150G>TCA2658237785OTOFc.2523+22C>A (n.2523+22C>A)
c.282+22C>A (n.282+22C>A)
c.453+22C>A (n.453+22C>A)
c.2568+22C>A (n.2568+22C>A)
 gnomAD v4
2g.26477153_26477167delCA1028608159OTOFc.2523+8_2523+22del (n.2523+8_2523+22del)
c.282+8_282+22del (n.282+8_282+22del)
c.453+8_453+22del (n.453+8_453+22del)
c.2568+8_2568+22del (n.2568+8_2568+22del)
 dbSNP gnomAD v3 gnomAD v4
2g.26477151C>ACA2658237786OTOFc.2523+21G>T (n.2523+21G>T)
c.282+21G>T (n.282+21G>T)
c.453+21G>T (n.453+21G>T)
c.2568+21G>T (n.2568+21G>T)
 gnomAD v4
2g.26477151C>TCA2658237787OTOFc.2523+21G>A (n.2523+21G>A)
c.282+21G>A (n.282+21G>A)
c.453+21G>A (n.453+21G>A)
c.2568+21G>A (n.2568+21G>A)
 gnomAD v4
2g.26477152C>ACA2576699495OTOFc.2523+20G>T (n.2523+20G>T)
c.282+20G>T (n.282+20G>T)
c.453+20G>T (n.453+20G>T)
c.2568+20G>T (n.2568+20G>T)
 gnomAD v4
2g.26477152C>GCA2658237789OTOFc.2523+20G>C (n.2523+20G>C)
c.282+20G>C (n.282+20G>C)
c.453+20G>C (n.453+20G>C)
c.2568+20G>C (n.2568+20G>C)
 gnomAD v4
2g.26477153C>ACA2658237790OTOFc.2523+19G>T (n.2523+19G>T)
c.282+19G>T (n.282+19G>T)
c.453+19G>T (n.453+19G>T)
c.2568+19G>T (n.2568+19G>T)
 gnomAD v4
2g.26477154C>ACA2576699496OTOFc.2523+18G>T (n.2523+18G>T)
c.282+18G>T (n.282+18G>T)
c.453+18G>T (n.453+18G>T)
c.2568+18G>T (n.2568+18G>T)
2g.26477154C=CA1239829589OTOFc.2523+18G= (n.2523+18G=)
c.282+18G= (n.282+18G=)
c.453+18G= (n.453+18G=)
c.2568+18G= (n.2568+18G=)
2g.26477154C>GCA531761880OTOFc.2523+18G>C (n.2523+18G>C)
c.282+18G>C (n.282+18G>C)
c.453+18G>C (n.453+18G>C)
c.2568+18G>C (n.2568+18G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26477154C>TCA531761881OTOFc.2523+18G>A (n.2523+18G>A)
c.282+18G>A (n.282+18G>A)
c.453+18G>A (n.453+18G>A)
c.2568+18G>A (n.2568+18G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26477155G>ACA1563879OTOFc.2523+17C>T (n.2523+17C>T)
c.282+17C>T (n.282+17C>T)
c.453+17C>T (n.453+17C>T)
c.2568+17C>T (n.2568+17C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477155G>CCA2658237791OTOFc.2523+17C>G (n.2523+17C>G)
c.282+17C>G (n.282+17C>G)
c.453+17C>G (n.453+17C>G)
c.2568+17C>G (n.2568+17C>G)
 gnomAD v4
2g.26477155G=CA1239829591OTOFc.2523+17C= (n.2523+17C=)
c.282+17C= (n.282+17C=)
c.453+17C= (n.453+17C=)
c.2568+17C= (n.2568+17C=)
2g.26477155G>TCA2658237792OTOFc.2523+17C>A (n.2523+17C>A)
c.282+17C>A (n.282+17C>A)
c.453+17C>A (n.453+17C>A)
c.2568+17C>A (n.2568+17C>A)
 gnomAD v4
2g.26477156A=CA1239829593OTOFc.2523+16T= (n.2523+16T=)
c.282+16T= (n.282+16T=)
c.453+16T= (n.453+16T=)
c.2568+16T= (n.2568+16T=)
2g.26477156A>CCA1239829594OTOFc.2523+16T>G (n.2523+16T>G)
c.282+16T>G (n.282+16T>G)
c.453+16T>G (n.453+16T>G)
c.2568+16T>G (n.2568+16T>G)
 dbSNP
2g.26477157C>ACA2697547889OTOFc.2523+15G>T (n.2523+15G>T)
c.282+15G>T (n.282+15G>T)
c.453+15G>T (n.453+15G>T)
c.2568+15G>T (n.2568+15G>T)
 ClinVar
2g.26477157C=CA1239829595OTOFc.2523+15G= (n.2523+15G=)
c.282+15G= (n.282+15G=)
c.453+15G= (n.453+15G=)
c.2568+15G= (n.2568+15G=)
2g.26477157C>TCA425360080OTOFc.2523+15G>A (n.2523+15G>A)
c.282+15G>A (n.282+15G>A)
c.453+15G>A (n.453+15G>A)
c.2568+15G>A (n.2568+15G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26477158C>ACA2658237795OTOFc.2523+14G>T (n.2523+14G>T)
c.282+14G>T (n.282+14G>T)
c.453+14G>T (n.453+14G>T)
c.2568+14G>T (n.2568+14G>T)
 dbSNP gnomAD v4
2g.26477158C=CA1239829598OTOFc.2523+14G= (n.2523+14G=)
c.282+14G= (n.282+14G=)
c.453+14G= (n.453+14G=)
c.2568+14G= (n.2568+14G=)
2g.26477158C>TCA1563880OTOFc.2523+14G>A (n.2523+14G>A)
c.282+14G>A (n.282+14G>A)
c.453+14G>A (n.453+14G>A)
c.2568+14G>A (n.2568+14G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477159C>ACA2576699497OTOFc.2523+13G>T (n.2523+13G>T)
c.282+13G>T (n.282+13G>T)
c.453+13G>T (n.453+13G>T)
c.2568+13G>T (n.2568+13G>T)
2g.26477159C>GCA2658237797OTOFc.2523+13G>C (n.2523+13G>C)
c.282+13G>C (n.282+13G>C)
c.453+13G>C (n.453+13G>C)
c.2568+13G>C (n.2568+13G>C)
 gnomAD v4
2g.26477159C>TCA2658237798OTOFc.2523+13G>A (n.2523+13G>A)
c.282+13G>A (n.282+13G>A)
c.453+13G>A (n.453+13G>A)
c.2568+13G>A (n.2568+13G>A)
 gnomAD v4
2g.26477160C>ACA2658237799OTOFc.2523+12G>T (n.2523+12G>T)
c.282+12G>T (n.282+12G>T)
c.453+12G>T (n.453+12G>T)
c.2568+12G>T (n.2568+12G>T)
 gnomAD v4
2g.26477160C=CA1239829602OTOFc.2523+12G= (n.2523+12G=)
c.282+12G= (n.282+12G=)
c.453+12G= (n.453+12G=)
c.2568+12G= (n.2568+12G=)
2g.26477160C>TCA1563881OTOFc.2523+12G>A (n.2523+12G>A)
c.282+12G>A (n.282+12G>A)
c.453+12G>A (n.453+12G>A)
c.2568+12G>A (n.2568+12G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26477162T>ACA2658237801OTOFc.2523+10A>T (n.2523+10A>T)
c.282+10A>T (n.282+10A>T)
c.453+10A>T (n.453+10A>T)
c.2568+10A>T (n.2568+10A>T)
 gnomAD v4
2g.26477162T>CCA531761882OTOFc.2523+10A>G (n.2523+10A>G)
c.282+10A>G (n.282+10A>G)
c.453+10A>G (n.453+10A>G)
c.2568+10A>G (n.2568+10A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26477162T=CA1239829603OTOFc.2523+10A= (n.2523+10A=)
c.282+10A= (n.282+10A=)
c.453+10A= (n.453+10A=)
c.2568+10A= (n.2568+10A=)
2g.26477163G>TCA2576699498OTOFc.2523+9C>A (n.2523+9C>A)
c.282+9C>A (n.282+9C>A)
c.453+9C>A (n.453+9C>A)
c.2568+9C>A (n.2568+9C>A)
 dbSNP gnomAD v4
2g.26477164G>CCA2658237805OTOFc.2523+8C>G (n.2523+8C>G)
c.282+8C>G (n.282+8C>G)
c.453+8C>G (n.453+8C>G)
c.2568+8C>G (n.2568+8C>G)
 gnomAD v4
2g.26477164G>TCA2698920778OTOFc.2523+8C>A (n.2523+8C>A)
c.282+8C>A (n.282+8C>A)
c.453+8C>A (n.453+8C>A)
c.2568+8C>A (n.2568+8C>A)
 dbSNP
2g.26477165G>TCA2658237806OTOFc.2523+7C>A (n.2523+7C>A)
c.282+7C>A (n.282+7C>A)
c.453+7C>A (n.453+7C>A)
c.2568+7C>A (n.2568+7C>A)
 gnomAD v4
2g.26477166C>ACA2658237807OTOFc.2523+6G>T (n.2523+6G>T)
c.282+6G>T (n.282+6G>T)
c.453+6G>T (n.453+6G>T)
c.2568+6G>T (n.2568+6G>T)
 gnomAD v4
2g.26477166C>TCA2658237809OTOFc.2523+6G>A (n.2523+6G>A)
c.282+6G>A (n.282+6G>A)
c.453+6G>A (n.453+6G>A)
c.2568+6G>A (n.2568+6G>A)
 gnomAD v4
2g.26477167delCA2576699499OTOFc.2523+6del (n.2523+6del)
c.282+6del (n.282+6del)
c.453+6del (n.453+6del)
c.2568+6del (n.2568+6del)
2g.26477167C=CA1239829606OTOFc.2523+5G= (n.2523+5G=)
c.282+5G= (n.282+5G=)
c.453+5G= (n.453+5G=)
c.2568+5G= (n.2568+5G=)
2g.26477167C>GCA2658237812OTOFc.2523+5G>C (n.2523+5G>C)
c.282+5G>C (n.282+5G>C)
c.453+5G>C (n.453+5G>C)
c.2568+5G>C (n.2568+5G>C)
 gnomAD v4
2g.26477167C>TCA142813OTOFc.2523+5G>A (n.2523+5G>A)
c.282+5G>A (n.282+5G>A)
c.453+5G>A (n.453+5G>A)
c.2568+5G>A (n.2568+5G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477168G>ACA1563882OTOFc.2523+4C>T (n.2523+4C>T)
c.282+4C>T (n.282+4C>T)
c.453+4C>T (n.453+4C>T)
c.2568+4C>T (n.2568+4C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477168G=CA1239829608OTOFc.2523+4C= (n.2523+4C=)
c.282+4C= (n.282+4C=)
c.453+4C= (n.453+4C=)
c.2568+4C= (n.2568+4C=)
2g.26477168G>TCA2658237814OTOFc.2523+4C>A (n.2523+4C>A)
c.282+4C>A (n.282+4C>A)
c.453+4C>A (n.453+4C>A)
c.2568+4C>A (n.2568+4C>A)
 gnomAD v4
2g.26477169C>TCA645517905OTOFc.2523+3G>A (n.2523+3G>A)
c.282+3G>A (n.282+3G>A)
c.453+3G>A (n.453+3G>A)
c.2568+3G>A (n.2568+3G>A)
 COSMIC COSMIC COSMIC
2g.26477170A>CCA346121170OTOFc.2523+2T>G (n.2523+2T>G)
c.282+2T>G (n.282+2T>G)
c.453+2T>G (n.453+2T>G)
c.2568+2T>G (n.2568+2T>G)
2g.26477170A>GCA346121172OTOFc.2523+2T>C (n.2523+2T>C)
c.282+2T>C (n.282+2T>C)
c.453+2T>C (n.453+2T>C)
c.2568+2T>C (n.2568+2T>C)
 gnomAD v4
2g.26477170A>TCA346121175OTOFc.2523+2T>A (n.2523+2T>A)
c.282+2T>A (n.282+2T>A)
c.453+2T>A (n.453+2T>A)
c.2568+2T>A (n.2568+2T>A)
2g.26477171C>ACA346121180OTOFc.2523+1G>T (n.2523+1G>T)
c.282+1G>T (n.282+1G>T)
c.453+1G>T (n.453+1G>T)
c.2568+1G>T (n.2568+1G>T)
2g.26477171C>GCA346121185OTOFc.2523+1G>C (n.2523+1G>C)
c.282+1G>C (n.282+1G>C)
c.453+1G>C (n.453+1G>C)
c.2568+1G>C (n.2568+1G>C)
2g.26477171C>TCA346121189OTOFc.2523+1G>A (n.2523+1G>A)
c.282+1G>A (n.282+1G>A)
c.453+1G>A (n.453+1G>A)
c.2568+1G>A (n.2568+1G>A)
2g.26477172C>ACA346121202OTOFc.2523G>T (p.Glu841Asp)
c.282G>T (p.Glu94Asp)
c.453G>T (p.Glu151Asp)
c.2568G>T (p.Glu856Asp)
 ClinVar dbSNP COSMIC COSMIC COSMIC
2g.26477172C=CA1239829613OTOFc.2523G= (p.Glu841=)
c.282G= (p.Glu94=)
c.453G= (p.Glu151=)
c.2568G= (p.Glu856=)
2g.26477172C>GCA346121197OTOFc.2523G>C (p.Glu841Asp)
c.282G>C (p.Glu94Asp)
c.453G>C (p.Glu151Asp)
c.2568G>C (p.Glu856Asp)
2g.26477172C>TCA425360083OTOFc.2523G>A (p.Glu841=)
c.282G>A (p.Glu94=)
c.453G>A (p.Glu151=)
c.2568G>A (p.Glu856=)
2g.26477173T>ACA346121212OTOFc.2522A>T (p.Glu841Val)
c.281A>T (p.Glu94Val)
c.452A>T (p.Glu151Val)
c.2567A>T (p.Glu856Val)
2g.26477173T>CCA346121221OTOFc.2522A>G (p.Glu841Gly)
c.281A>G (p.Glu94Gly)
c.452A>G (p.Glu151Gly)
c.2567A>G (p.Glu856Gly)
 gnomAD v4
2g.26477173T>GCA346121225OTOFc.2522A>C (p.Glu841Ala)
c.281A>C (p.Glu94Ala)
c.452A>C (p.Glu151Ala)
c.2567A>C (p.Glu856Ala)
 gnomAD v4
2g.26477174C>ACA346121227OTOFc.2521G>T (p.Glu841Ter)
c.280G>T (p.Glu94Ter)
c.451G>T (p.Glu151Ter)
c.2566G>T (p.Glu856Ter)
 ClinVar
2g.26477174C=CA1239829616OTOFc.2521G= (p.Glu841=)
c.280G= (p.Glu94=)
c.451G= (p.Glu151=)
c.2566G= (p.Glu856=)
2g.26477174C>GCA346121231OTOFc.2521G>C (p.Glu841Gln)
c.280G>C (p.Glu94Gln)
c.451G>C (p.Glu151Gln)
c.2566G>C (p.Glu856Gln)
2g.26477174C>TCA1563883OTOFc.2521G>A (p.Glu841Lys)
c.280G>A (p.Glu94Lys)
c.451G>A (p.Glu151Lys)
c.2566G>A (p.Glu856Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477175G>ACA1563884OTOFc.2520C>T (p.Asp840=)
c.279C>T (p.Asp93=)
c.450C>T (p.Asp150=)
c.2565C>T (p.Asp855=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477175G>CCA44398303OTOFc.2520C>G (p.Asp840Glu)
c.279C>G (p.Asp93Glu)
c.450C>G (p.Asp150Glu)
c.2565C>G (p.Asp855Glu)
 dbSNP gnomAD v2 gnomAD v4
2g.26477175G=CA1239829620OTOFc.2520C= (p.Asp840=)
c.279C= (p.Asp93=)
c.450C= (p.Asp150=)
c.2565C= (p.Asp855=)
2g.26477175G>TCA346121235OTOFc.2520C>A (p.Asp840Glu)
c.279C>A (p.Asp93Glu)
c.450C>A (p.Asp150Glu)
c.2565C>A (p.Asp855Glu)
2g.26477176T>ACA346121247OTOFc.2519A>T (p.Asp840Val)
c.278A>T (p.Asp93Val)
c.449A>T (p.Asp150Val)
c.2564A>T (p.Asp855Val)
2g.26477176T>CCA346121248OTOFc.2519A>G (p.Asp840Gly)
c.278A>G (p.Asp93Gly)
c.449A>G (p.Asp150Gly)
c.2564A>G (p.Asp855Gly)
2g.26477176T>GCA346121258OTOFc.2519A>C (p.Asp840Ala)
c.278A>C (p.Asp93Ala)
c.449A>C (p.Asp150Ala)
c.2564A>C (p.Asp855Ala)
2g.26477177C>ACA346121271OTOFc.2518G>T (p.Asp840Tyr)
c.277G>T (p.Asp93Tyr)
c.448G>T (p.Asp150Tyr)
c.2563G>T (p.Asp855Tyr)
2g.26477177C=CA1239829625OTOFc.2518G= (p.Asp840=)
c.277G= (p.Asp93=)
c.448G= (p.Asp150=)
c.2563G= (p.Asp855=)
2g.26477177C>GCA346121274OTOFc.2518G>C (p.Asp840His)
c.277G>C (p.Asp93His)
c.448G>C (p.Asp150His)
c.2563G>C (p.Asp855His)
2g.26477177C>TCA1563885OTOFc.2518G>A (p.Asp840Asn)
c.277G>A (p.Asp93Asn)
c.448G>A (p.Asp150Asn)
c.2563G>A (p.Asp855Asn)
 dbSNP ExAC gnomAD v2
2g.26477178C>ACA425360087OTOFc.2517G>T (p.Ala839=)
c.276G>T (p.Ala92=)
c.447G>T (p.Ala149=)
c.2562G>T (p.Ala854=)
 gnomAD v4
2g.26477178C=CA1239829629OTOFc.2517G= (p.Ala839=)
c.276G= (p.Ala92=)
c.447G= (p.Ala149=)
c.2562G= (p.Ala854=)
2g.26477178C>GCA425360088OTOFc.2517G>C (p.Ala839=)
c.276G>C (p.Ala92=)
c.447G>C (p.Ala149=)
c.2562G>C (p.Ala854=)
2g.26477178C>TCA1563886OTOFc.2517G>A (p.Ala839=)
c.276G>A (p.Ala92=)
c.447G>A (p.Ala149=)
c.2562G>A (p.Ala854=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
2g.26477179G>ACA1563887OTOFc.2516C>T (p.Ala839Val)
c.275C>T (p.Ala92Val)
c.446C>T (p.Ala149Val)
c.2561C>T (p.Ala854Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477179G>CCA346121293OTOFc.2516C>G (p.Ala839Gly)
c.275C>G (p.Ala92Gly)
c.446C>G (p.Ala149Gly)
c.2561C>G (p.Ala854Gly)
2g.26477179G=CA1239829633OTOFc.2516C= (p.Ala839=)
c.275C= (p.Ala92=)
c.446C= (p.Ala149=)
c.2561C= (p.Ala854=)
2g.26477179G>TCA346121294OTOFc.2516C>A (p.Ala839Glu)
c.275C>A (p.Ala92Glu)
c.446C>A (p.Ala149Glu)
c.2561C>A (p.Ala854Glu)
 dbSNP gnomAD v3 gnomAD v4
2g.26477180C>ACA346121297OTOFc.2515G>T (p.Ala839Ser)
c.274G>T (p.Ala92Ser)
c.445G>T (p.Ala149Ser)
c.2560G>T (p.Ala854Ser)
 gnomAD v4
2g.26477180C>GCA346121300OTOFc.2515G>C (p.Ala839Pro)
c.274G>C (p.Ala92Pro)
c.445G>C (p.Ala149Pro)
c.2560G>C (p.Ala854Pro)
2g.26477180C>TCA346121308OTOFc.2515G>A (p.Ala839Thr)
c.274G>A (p.Ala92Thr)
c.445G>A (p.Ala149Thr)
c.2560G>A (p.Ala854Thr)
 gnomAD v4
2g.26477181C>ACA425360095OTOFc.2514G>T (p.Leu838=)
c.273G>T (p.Leu91=)
c.444G>T (p.Leu148=)
c.2559G>T (p.Leu853=)
2g.26477181C>GCA425360096OTOFc.2514G>C (p.Leu838=)
c.273G>C (p.Leu91=)
c.444G>C (p.Leu148=)
c.2559G>C (p.Leu853=)
2g.26477181C>TCA425360094OTOFc.2514G>A (p.Leu838=)
c.273G>A (p.Leu91=)
c.444G>A (p.Leu148=)
c.2559G>A (p.Leu853=)
2g.26477182A>CCA346121312OTOFc.2513T>G (p.Leu838Arg)
c.272T>G (p.Leu91Arg)
c.443T>G (p.Leu148Arg)
c.2558T>G (p.Leu853Arg)
2g.26477182A>GCA346121313OTOFc.2513T>C (p.Leu838Pro)
c.272T>C (p.Leu91Pro)
c.443T>C (p.Leu148Pro)
c.2558T>C (p.Leu853Pro)
2g.26477182A>TCA346121314OTOFc.2513T>A (p.Leu838Gln)
c.272T>A (p.Leu91Gln)
c.443T>A (p.Leu148Gln)
c.2558T>A (p.Leu853Gln)
2g.26477183G>ACA142811OTOFc.2512C>T (p.Leu838=)
c.271C>T (p.Leu91=)
c.442C>T (p.Leu148=)
c.2557C>T (p.Leu853=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477183G>CCA346121323OTOFc.2512C>G (p.Leu838Val)
c.271C>G (p.Leu91Val)
c.442C>G (p.Leu148Val)
c.2557C>G (p.Leu853Val)
2g.26477183G=CA1239829639OTOFc.2512C= (p.Leu838=)
c.271C= (p.Leu91=)
c.442C= (p.Leu148=)
c.2557C= (p.Leu853=)
2g.26477183G>TCA346121329OTOFc.2512C>A (p.Leu838Met)
c.271C>A (p.Leu91Met)
c.442C>A (p.Leu148Met)
c.2557C>A (p.Leu853Met)
 gnomAD v4
2g.26477184G>ACA425360099OTOFc.2511C>T (p.Phe837=)
c.270C>T (p.Phe90=)
c.441C>T (p.Phe147=)
c.2556C>T (p.Phe852=)
 ClinVar dbSNP
2g.26477184G>CCA346121347OTOFc.2511C>G (p.Phe837Leu)
c.270C>G (p.Phe90Leu)
c.441C>G (p.Phe147Leu)
c.2556C>G (p.Phe852Leu)
2g.26477184G=CA1239829642OTOFc.2511C= (p.Phe837=)
c.270C= (p.Phe90=)
c.441C= (p.Phe147=)
c.2556C= (p.Phe852=)
2g.26477184G>TCA346121337OTOFc.2511C>A (p.Phe837Leu)
c.270C>A (p.Phe90Leu)
c.441C>A (p.Phe147Leu)
c.2556C>A (p.Phe852Leu)
2g.26477185A>CCA346121353OTOFc.2510T>G (p.Phe837Cys)
c.269T>G (p.Phe90Cys)
c.440T>G (p.Phe147Cys)
c.2555T>G (p.Phe852Cys)
2g.26477185A>GCA346121355OTOFc.2510T>C (p.Phe837Ser)
c.269T>C (p.Phe90Ser)
c.440T>C (p.Phe147Ser)
c.2555T>C (p.Phe852Ser)
2g.26477185A>TCA346121356OTOFc.2510T>A (p.Phe837Tyr)
c.269T>A (p.Phe90Tyr)
c.440T>A (p.Phe147Tyr)
c.2555T>A (p.Phe852Tyr)
2g.26477186A>CCA346121363OTOFc.2509T>G (p.Phe837Val)
c.268T>G (p.Phe90Val)
c.439T>G (p.Phe147Val)
c.2554T>G (p.Phe852Val)
2g.26477186A>GCA346121368OTOFc.2509T>C (p.Phe837Leu)
c.268T>C (p.Phe90Leu)
c.439T>C (p.Phe147Leu)
c.2554T>C (p.Phe852Leu)
2g.26477186A>TCA346121373OTOFc.2509T>A (p.Phe837Ile)
c.268T>A (p.Phe90Ile)
c.439T>A (p.Phe147Ile)
c.2554T>A (p.Phe852Ile)
2g.26477187G>ACA1563888OTOFc.2508C>T (p.Arg836=)
c.267C>T (p.Arg89=)
c.438C>T (p.Arg146=)
c.2553C>T (p.Arg851=)
 ClinVar dbSNP ExAC gnomAD v2
2g.26477187G>CCA425359828OTOFc.2508C>G (p.Arg836=)
c.267C>G (p.Arg89=)
c.438C>G (p.Arg146=)
c.2553C>G (p.Arg851=)
2g.26477187G=CA1239829644OTOFc.2508C= (p.Arg836=)
c.267C= (p.Arg89=)
c.438C= (p.Arg146=)
c.2553C= (p.Arg851=)
2g.26477187G>TCA425359831OTOFc.2508C>A (p.Arg836=)
c.267C>A (p.Arg89=)
c.438C>A (p.Arg146=)
c.2553C>A (p.Arg851=)
2g.26477188C>ACA346121404OTOFc.2507G>T (p.Arg836Leu)
c.266G>T (p.Arg89Leu)
c.437G>T (p.Arg146Leu)
c.2552G>T (p.Arg851Leu)
2g.26477188C=CA1239829645OTOFc.2507G= (p.Arg836=)
c.266G= (p.Arg89=)
c.437G= (p.Arg146=)
c.2552G= (p.Arg851=)
2g.26477188C>GCA346121416OTOFc.2507G>C (p.Arg836Pro)
c.266G>C (p.Arg89Pro)
c.437G>C (p.Arg146Pro)
c.2552G>C (p.Arg851Pro)
2g.26477188C>TCA182462OTOFc.2507G>A (p.Arg836His)
c.266G>A (p.Arg89His)
c.437G>A (p.Arg146His)
c.2552G>A (p.Arg851His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477189G>ACA1563889OTOFc.2506C>T (p.Arg836Cys)
c.265C>T (p.Arg89Cys)
c.436C>T (p.Arg146Cys)
c.2551C>T (p.Arg851Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477189G>CCA346121435OTOFc.2506C>G (p.Arg836Gly)
c.265C>G (p.Arg89Gly)
c.436C>G (p.Arg146Gly)
c.2551C>G (p.Arg851Gly)
2g.26477189G=CA1239829649OTOFc.2506C= (p.Arg836=)
c.265C= (p.Arg89=)
c.436C= (p.Arg146=)
c.2551C= (p.Arg851=)
2g.26477189G>TCA346121436OTOFc.2506C>A (p.Arg836Ser)
c.265C>A (p.Arg89Ser)
c.436C>A (p.Arg146Ser)
c.2551C>A (p.Arg851Ser)
 gnomAD v4
2g.26477190C>ACA425359835OTOFc.2505G>T (p.Leu835=)
c.264G>T (p.Leu88=)
c.435G>T (p.Leu145=)
c.2550G>T (p.Leu850=)
2g.26477190C=CA1239829654OTOFc.2505G= (p.Leu835=)
c.264G= (p.Leu88=)
c.435G= (p.Leu145=)
c.2550G= (p.Leu850=)
2g.26477190C>GCA425359836OTOFc.2505G>C (p.Leu835=)
c.264G>C (p.Leu88=)
c.435G>C (p.Leu145=)
c.2550G>C (p.Leu850=)
2g.26477190C>TCA425359837OTOFc.2505G>A (p.Leu835=)
c.264G>A (p.Leu88=)
c.435G>A (p.Leu145=)
c.2550G>A (p.Leu850=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.26477191A>CCA346121442OTOFc.2504T>G (p.Leu835Arg)
c.263T>G (p.Leu88Arg)
c.434T>G (p.Leu145Arg)
c.2549T>G (p.Leu850Arg)
2g.26477191A>GCA346121439OTOFc.2504T>C (p.Leu835Pro)
c.263T>C (p.Leu88Pro)
c.434T>C (p.Leu145Pro)
c.2549T>C (p.Leu850Pro)
2g.26477191A>TCA346121437OTOFc.2504T>A (p.Leu835Gln)
c.263T>A (p.Leu88Gln)
c.434T>A (p.Leu145Gln)
c.2549T>A (p.Leu850Gln)
2g.26477192G>ACA425359843OTOFc.2503C>T (p.Leu835=)
c.262C>T (p.Leu88=)
c.433C>T (p.Leu145=)
c.2548C>T (p.Leu850=)
2g.26477192G>CCA346121444OTOFc.2503C>G (p.Leu835Val)
c.262C>G (p.Leu88Val)
c.433C>G (p.Leu145Val)
c.2548C>G (p.Leu850Val)
2g.26477192G>TCA346121449OTOFc.2503C>A (p.Leu835Met)
c.262C>A (p.Leu88Met)
c.433C>A (p.Leu145Met)
c.2548C>A (p.Leu850Met)
2g.26477193C>ACA346121453OTOFc.2502G>T (p.Lys834Asn)
c.261G>T (p.Lys87Asn)
c.432G>T (p.Lys144Asn)
c.2547G>T (p.Lys849Asn)
2g.26477193C=CA1239829658OTOFc.2502G= (p.Lys834=)
c.261G= (p.Lys87=)
c.432G= (p.Lys144=)
c.2547G= (p.Lys849=)
2g.26477193C>GCA346121462OTOFc.2502G>C (p.Lys834Asn)
c.261G>C (p.Lys87Asn)
c.432G>C (p.Lys144Asn)
c.2547G>C (p.Lys849Asn)
2g.26477193C>TCA425359844OTOFc.2502G>A (p.Lys834=)
c.261G>A (p.Lys87=)
c.432G>A (p.Lys144=)
c.2547G>A (p.Lys849=)
 dbSNP
2g.26477194T>ACA346121480OTOFc.2501A>T (p.Lys834Met)
c.260A>T (p.Lys87Met)
c.431A>T (p.Lys144Met)
c.2546A>T (p.Lys849Met)
2g.26477194T>CCA346121488OTOFc.2501A>G (p.Lys834Arg)
c.260A>G (p.Lys87Arg)
c.431A>G (p.Lys144Arg)
c.2546A>G (p.Lys849Arg)
2g.26477194T>GCA346121484OTOFc.2501A>C (p.Lys834Thr)
c.260A>C (p.Lys87Thr)
c.431A>C (p.Lys144Thr)
c.2546A>C (p.Lys849Thr)
2g.26477195T>ACA346121489OTOFc.2500A>T (p.Lys834Ter)
c.259A>T (p.Lys87Ter)
c.430A>T (p.Lys144Ter)
c.2545A>T (p.Lys849Ter)
 gnomAD v4
2g.26477195T>CCA346121490OTOFc.2500A>G (p.Lys834Glu)
c.259A>G (p.Lys87Glu)
c.430A>G (p.Lys144Glu)
c.2545A>G (p.Lys849Glu)
2g.26477195T>GCA1563890OTOFc.2500A>C (p.Lys834Gln)
c.259A>C (p.Lys87Gln)
c.430A>C (p.Lys144Gln)
c.2545A>C (p.Lys849Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26477195T=CA1239829667OTOFc.2500A= (p.Lys834=)
c.259A= (p.Lys87=)
c.430A= (p.Lys144=)
c.2545A= (p.Lys849=)
2g.26477196C>ACA346121494OTOFc.2499G>T (p.Gln833His)
c.258G>T (p.Gln86His)
c.429G>T (p.Gln143His)
c.2544G>T (p.Gln848His)
2g.26477196C>GCA346121496OTOFc.2499G>C (p.Gln833His)
c.258G>C (p.Gln86His)
c.429G>C (p.Gln143His)
c.2544G>C (p.Gln848His)
2g.26477196C>TCA425359852OTOFc.2499G>A (p.Gln833=)
c.258G>A (p.Gln86=)
c.429G>A (p.Gln143=)
c.2544G>A (p.Gln848=)
2g.26477197T>ACA182464OTOFc.2498A>T (p.Gln833Leu)
c.257A>T (p.Gln86Leu)
c.428A>T (p.Gln143Leu)
c.2543A>T (p.Gln848Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477197T>CCA346121505OTOFc.2498A>G (p.Gln833Arg)
c.257A>G (p.Gln86Arg)
c.428A>G (p.Gln143Arg)
c.2543A>G (p.Gln848Arg)
2g.26477197T>GCA346121523OTOFc.2498A>C (p.Gln833Pro)
c.257A>C (p.Gln86Pro)
c.428A>C (p.Gln143Pro)
c.2543A>C (p.Gln848Pro)
2g.26477197T=CA1239829671OTOFc.2498A= (p.Gln833=)
c.257A= (p.Gln86=)
c.428A= (p.Gln143=)
c.2543A= (p.Gln848=)
2g.26477198G>ACA346121525OTOFc.2497C>T (p.Gln833Ter)
c.256C>T (p.Gln86Ter)
c.427C>T (p.Gln143Ter)
c.2542C>T (p.Gln848Ter)
2g.26477198G>CCA346121526OTOFc.2497C>G (p.Gln833Glu)
c.256C>G (p.Gln86Glu)
c.427C>G (p.Gln143Glu)
c.2542C>G (p.Gln848Glu)
 gnomAD v4
2g.26477198G>TCA346121528OTOFc.2497C>A (p.Gln833Lys)
c.256C>A (p.Gln86Lys)
c.427C>A (p.Gln143Lys)
c.2542C>A (p.Gln848Lys)
 gnomAD v4
2g.26477199C>ACA425359855OTOFc.2496G>T (p.Leu832=)
c.255G>T (p.Leu85=)
c.426G>T (p.Leu142=)
c.2541G>T (p.Leu847=)
 gnomAD v4
2g.26477199C=CA1239829678OTOFc.2496G= (p.Leu832=)
c.255G= (p.Leu85=)
c.426G= (p.Leu142=)
c.2541G= (p.Leu847=)
2g.26477199C>GCA425359856OTOFc.2496G>C (p.Leu832=)
c.255G>C (p.Leu85=)
c.426G>C (p.Leu142=)
c.2541G>C (p.Leu847=)
 dbSNP gnomAD v4
2g.26477199C>TCA425359858OTOFc.2496G>A (p.Leu832=)
c.255G>A (p.Leu85=)
c.426G>A (p.Leu142=)
c.2541G>A (p.Leu847=)
 dbSNP gnomAD v2 gnomAD v4
2g.26477200A>CCA346121547OTOFc.2495T>G (p.Leu832Arg)
c.254T>G (p.Leu85Arg)
c.425T>G (p.Leu142Arg)
c.2540T>G (p.Leu847Arg)
2g.26477200A>GCA346121537OTOFc.2495T>C (p.Leu832Pro)
c.254T>C (p.Leu85Pro)
c.425T>C (p.Leu142Pro)
c.2540T>C (p.Leu847Pro)
2g.26477200A>TCA346121539OTOFc.2495T>A (p.Leu832Gln)
c.254T>A (p.Leu85Gln)
c.425T>A (p.Leu142Gln)
c.2540T>A (p.Leu847Gln)
2g.26477201G>ACA425359860OTOFc.2494C>T (p.Leu832=)
c.253C>T (p.Leu85=)
c.424C>T (p.Leu142=)
c.2539C>T (p.Leu847=)
2g.26477201G>CCA346121548OTOFc.2494C>G (p.Leu832Val)
c.253C>G (p.Leu85Val)
c.424C>G (p.Leu142Val)
c.2539C>G (p.Leu847Val)
2g.26477201G>TCA346121549OTOFc.2494C>A (p.Leu832Met)
c.253C>A (p.Leu85Met)
c.424C>A (p.Leu142Met)
c.2539C>A (p.Leu847Met)
2g.26477202delCA645517906OTOFc.2494del (p.Leu832CysfsTer22)
c.253del (p.Leu85CysfsTer22)
c.424del (p.Leu142CysfsTer22)
c.2539del (p.Leu847CysfsTer22)
 COSMIC COSMIC COSMIC
2g.26477202G>ACA425359861OTOFc.2493C>T (p.Phe831=)
c.252C>T (p.Phe84=)
c.423C>T (p.Phe141=)
c.2538C>T (p.Phe846=)
2g.26477202G>CCA346121552OTOFc.2493C>G (p.Phe831Leu)
c.252C>G (p.Phe84Leu)
c.423C>G (p.Phe141Leu)
c.2538C>G (p.Phe846Leu)
2g.26477202G>TCA346121556OTOFc.2493C>A (p.Phe831Leu)
c.252C>A (p.Phe84Leu)
c.423C>A (p.Phe141Leu)
c.2538C>A (p.Phe846Leu)
2g.26477203A>CCA346121564OTOFc.2492T>G (p.Phe831Cys)
c.251T>G (p.Phe84Cys)
c.422T>G (p.Phe141Cys)
c.2537T>G (p.Phe846Cys)
2g.26477203A>GCA346121570OTOFc.2492T>C (p.Phe831Ser)
c.251T>C (p.Phe84Ser)
c.422T>C (p.Phe141Ser)
c.2537T>C (p.Phe846Ser)
2g.26477203A>TCA346121576OTOFc.2492T>A (p.Phe831Tyr)
c.251T>A (p.Phe84Tyr)
c.422T>A (p.Phe141Tyr)
c.2537T>A (p.Phe846Tyr)
2g.26477204A>CCA346121581OTOFc.2491T>G (p.Phe831Val)
c.250T>G (p.Phe84Val)
c.421T>G (p.Phe141Val)
c.2536T>G (p.Phe846Val)
2g.26477204A>GCA346121587OTOFc.2491T>C (p.Phe831Leu)
c.250T>C (p.Phe84Leu)
c.421T>C (p.Phe141Leu)
c.2536T>C (p.Phe846Leu)
2g.26477204A>TCA346121589OTOFc.2491T>A (p.Phe831Ile)
c.250T>A (p.Phe84Ile)
c.421T>A (p.Phe141Ile)
c.2536T>A (p.Phe846Ile)
2g.26477205G>ACA425359865OTOFc.2490C>T (p.Asn830=)
c.249C>T (p.Asn83=)
c.420C>T (p.Asn140=)
c.2535C>T (p.Asn845=)
2g.26477205G>CCA346121596OTOFc.2490C>G (p.Asn830Lys)
c.249C>G (p.Asn83Lys)
c.420C>G (p.Asn140Lys)
c.2535C>G (p.Asn845Lys)
2g.26477205G>TCA346121592OTOFc.2490C>A (p.Asn830Lys)
c.249C>A (p.Asn83Lys)
c.420C>A (p.Asn140Lys)
c.2535C>A (p.Asn845Lys)
 gnomAD v4
2g.26477206T>ACA346121602OTOFc.2489A>T (p.Asn830Ile)
c.248A>T (p.Asn83Ile)
c.419A>T (p.Asn140Ile)
c.2534A>T (p.Asn845Ile)
2g.26477206T>CCA346121604OTOFc.2489A>G (p.Asn830Ser)
c.248A>G (p.Asn83Ser)
c.419A>G (p.Asn140Ser)
c.2534A>G (p.Asn845Ser)
 gnomAD v4
2g.26477206T>GCA346121611OTOFc.2489A>C (p.Asn830Thr)
c.248A>C (p.Asn83Thr)
c.419A>C (p.Asn140Thr)
c.2534A>C (p.Asn845Thr)
2g.26477207T>ACA346121616OTOFc.2488A>T (p.Asn830Tyr)
c.247A>T (p.Asn83Tyr)
c.418A>T (p.Asn140Tyr)
c.2533A>T (p.Asn845Tyr)
2g.26477207T>CCA346121617OTOFc.2488A>G (p.Asn830Asp)
c.247A>G (p.Asn83Asp)
c.418A>G (p.Asn140Asp)
c.2533A>G (p.Asn845Asp)
2g.26477207T>GCA346121618OTOFc.2488A>C (p.Asn830His)
c.247A>C (p.Asn83His)
c.418A>C (p.Asn140His)
c.2533A>C (p.Asn845His)
2g.26477208C>ACA346121627OTOFc.2487G>T (p.Gln829His)
c.246G>T (p.Gln82His)
c.417G>T (p.Gln139His)
c.2532G>T (p.Gln844His)
2g.26477208C>GCA346121620OTOFc.2487G>C (p.Gln829His)
c.246G>C (p.Gln82His)
c.417G>C (p.Gln139His)
c.2532G>C (p.Gln844His)
2g.26477208C>TCA425359869OTOFc.2487G>A (p.Gln829=)
c.246G>A (p.Gln82=)
c.417G>A (p.Gln139=)
c.2532G>A (p.Gln844=)
 gnomAD v4
2g.26477209T>ACA346121631OTOFc.2486A>T (p.Gln829Leu)
c.245A>T (p.Gln82Leu)
c.416A>T (p.Gln139Leu)
c.2531A>T (p.Gln844Leu)
 gnomAD v4
2g.26477209T>CCA346121636OTOFc.2486A>G (p.Gln829Arg)
c.245A>G (p.Gln82Arg)
c.416A>G (p.Gln139Arg)
c.2531A>G (p.Gln844Arg)
 dbSNP
2g.26477209T>GCA346121639OTOFc.2486A>C (p.Gln829Pro)
c.245A>C (p.Gln82Pro)
c.416A>C (p.Gln139Pro)
c.2531A>C (p.Gln844Pro)
2g.26477210G>ACA340525OTOFc.2485C>T (p.Gln829Ter)
c.244C>T (p.Gln82Ter)
c.415C>T (p.Gln139Ter)
c.2530C>T (p.Gln844Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477210G>CCA346121640OTOFc.2485C>G (p.Gln829Glu)
c.244C>G (p.Gln82Glu)
c.415C>G (p.Gln139Glu)
c.2530C>G (p.Gln844Glu)
2g.26477210G=CA1239829684OTOFc.2485C= (p.Gln829=)
c.244C= (p.Gln82=)
c.415C= (p.Gln139=)
c.2530C= (p.Gln844=)
2g.26477210G>TCA346121647OTOFc.2485C>A (p.Gln829Lys)
c.244C>A (p.Gln82Lys)
c.415C>A (p.Gln139Lys)
c.2530C>A (p.Gln844Lys)
2g.26477211G>ACA1563891OTOFc.2484C>T (p.Cys828=)
c.243C>T (p.Cys81=)
c.414C>T (p.Cys138=)
c.2529C>T (p.Cys843=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26477211G>CCA346121669OTOFc.2484C>G (p.Cys828Trp)
c.243C>G (p.Cys81Trp)
c.414C>G (p.Cys138Trp)
c.2529C>G (p.Cys843Trp)
2g.26477211G=CA1239829688OTOFc.2484C= (p.Cys828=)
c.243C= (p.Cys81=)
c.414C= (p.Cys138=)
c.2529C= (p.Cys843=)
2g.26477211G>TCA346121668OTOFc.2484C>A (p.Cys828Ter)
c.243C>A (p.Cys81Ter)
c.414C>A (p.Cys138Ter)
c.2529C>A (p.Cys843Ter)
 dbSNP
2g.26477212C>ACA346121676OTOFc.2483G>T (p.Cys828Phe)
c.242G>T (p.Cys81Phe)
c.413G>T (p.Cys138Phe)
c.2528G>T (p.Cys843Phe)
2g.26477212C=CA1239829692OTOFc.2483G= (p.Cys828=)
c.242G= (p.Cys81=)
c.413G= (p.Cys138=)
c.2528G= (p.Cys843=)
2g.26477212C>GCA346121688OTOFc.2483G>C (p.Cys828Ser)
c.242G>C (p.Cys81Ser)
c.413G>C (p.Cys138Ser)
c.2528G>C (p.Cys843Ser)
 dbSNP
2g.26477212C>TCA346121711OTOFc.2483G>A (p.Cys828Tyr)
c.242G>A (p.Cys81Tyr)
c.413G>A (p.Cys138Tyr)
c.2528G>A (p.Cys843Tyr)
 gnomAD v4
2g.26477212_26477213insGCAGCTTCTGCAGGAAGTTCTGTCCA1028608204OTOFc.2483_2484insACAGAACTTCCTGCAGAAGCTGCG (p.Cys828Ter)
c.242_243insACAGAACTTCCTGCAGAAGCTGCG (p.Cys81Ter)
c.413_414insACAGAACTTCCTGCAGAAGCTGCG (p.Cys138Ter)
c.2528_2529insACAGAACTTCCTGCAGAAGCTGCG (p.Cys843Ter)
 dbSNP gnomAD v3 gnomAD v4
2g.26477213A=CA1239829695OTOFc.2482T= (p.Cys828=)
c.241T= (p.Cys81=)
c.412T= (p.Cys138=)
c.2527T= (p.Cys843=)
2g.26477213A>CCA346121714OTOFc.2482T>G (p.Cys828Gly)
c.241T>G (p.Cys81Gly)
c.412T>G (p.Cys138Gly)
c.2527T>G (p.Cys843Gly)
2g.26477213A>GCA346121717OTOFc.2482T>C (p.Cys828Arg)
c.241T>C (p.Cys81Arg)
c.412T>C (p.Cys138Arg)
c.2527T>C (p.Cys843Arg)
2g.26477213A>TCA346121731OTOFc.2482T>A (p.Cys828Ser)
c.241T>A (p.Cys81Ser)
c.412T>A (p.Cys138Ser)
c.2527T>A (p.Cys843Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.26477214C>ACA425359880OTOFc.2481G>T (p.Leu827=)
c.240G>T (p.Leu80=)
c.411G>T (p.Leu137=)
c.2526G>T (p.Leu842=)
2g.26477214C>GCA425359882OTOFc.2481G>C (p.Leu827=)
c.240G>C (p.Leu80=)
c.411G>C (p.Leu137=)
c.2526G>C (p.Leu842=)
2g.26477214C>TCA425359883OTOFc.2481G>A (p.Leu827=)
c.240G>A (p.Leu80=)
c.411G>A (p.Leu137=)
c.2526G>A (p.Leu842=)
 gnomAD v4
2g.26477218_26477223delCA2658237851OTOFc.2476_2481del (p.Arg826_Leu827del)
c.235_240del (p.Arg79_Leu80del)
c.406_411del (p.Arg136_Leu137del)
c.2521_2526del (p.Arg841_Leu842del)
 gnomAD v4
2g.26477215A>CCA346121734OTOFc.2480T>G (p.Leu827Arg)
c.239T>G (p.Leu80Arg)
c.410T>G (p.Leu137Arg)
c.2525T>G (p.Leu842Arg)
2g.26477215A>GCA346121735OTOFc.2480T>C (p.Leu827Pro)
c.239T>C (p.Leu80Pro)
c.410T>C (p.Leu137Pro)
c.2525T>C (p.Leu842Pro)
2g.26477215A>TCA346121737OTOFc.2480T>A (p.Leu827Gln)
c.239T>A (p.Leu80Gln)
c.410T>A (p.Leu137Gln)
c.2525T>A (p.Leu842Gln)
2g.26477216G>ACA425359887OTOFc.2479C>T (p.Leu827=)
c.238C>T (p.Leu80=)
c.409C>T (p.Leu137=)
c.2524C>T (p.Leu842=)
2g.26477216G>CCA346121743OTOFc.2479C>G (p.Leu827Val)
c.238C>G (p.Leu80Val)
c.409C>G (p.Leu137Val)
c.2524C>G (p.Leu842Val)
2g.26477216G>TCA346121750OTOFc.2479C>A (p.Leu827Met)
c.238C>A (p.Leu80Met)
c.409C>A (p.Leu137Met)
c.2524C>A (p.Leu842Met)
2g.26477217C>ACA346121766OTOFc.2478G>T (p.Arg826Ser)
c.237G>T (p.Arg79Ser)
c.408G>T (p.Arg136Ser)
c.2523G>T (p.Arg841Ser)
2g.26477217C>GCA346121760OTOFc.2478G>C (p.Arg826Ser)
c.237G>C (p.Arg79Ser)
c.408G>C (p.Arg136Ser)
c.2523G>C (p.Arg841Ser)
 gnomAD v4
2g.26477217C>TCA425359888OTOFc.2478G>A (p.Arg826=)
c.237G>A (p.Arg79=)
c.408G>A (p.Arg136=)
c.2523G>A (p.Arg841=)
2g.26477218C>ACA346121775OTOFc.2477G>T (p.Arg826Met)
c.236G>T (p.Arg79Met)
c.407G>T (p.Arg136Met)
c.2522G>T (p.Arg841Met)
 gnomAD v4
2g.26477218C>GCA346121781OTOFc.2477G>C (p.Arg826Thr)
c.236G>C (p.Arg79Thr)
c.407G>C (p.Arg136Thr)
c.2522G>C (p.Arg841Thr)
2g.26477218C>TCA346121777OTOFc.2477G>A (p.Arg826Lys)
c.236G>A (p.Arg79Lys)
c.407G>A (p.Arg136Lys)
c.2522G>A (p.Arg841Lys)
2g.26477219T>ACA346121791OTOFc.2476A>T (p.Arg826Trp)
c.235A>T (p.Arg79Trp)
c.406A>T (p.Arg136Trp)
c.2521A>T (p.Arg841Trp)
2g.26477219T>CCA346121799OTOFc.2476A>G (p.Arg826Gly)
c.235A>G (p.Arg79Gly)
c.406A>G (p.Arg136Gly)
c.2521A>G (p.Arg841Gly)
2g.26477219T>GCA425359890OTOFc.2476A>C (p.Arg826=)
c.235A>C (p.Arg79=)
c.406A>C (p.Arg136=)
c.2521A>C (p.Arg841=)
 gnomAD v4

Number of alleles fetched