Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.26461656G>A | CA2658232502 | OTOF | c.5533+40C>T (n.5533+40C>T) c.3232+40C>T (n.3232+40C>T) c.3292+40C>T (n.3292+40C>T) c.3463+40C>T (n.3463+40C>T) c.5518+40C>T (n.5518+40C>T) c.5578+40C>T (n.5578+40C>T) c.5473+40C>T (n.5473+40C>T) | gnomAD v4 |
2 | g.26461656_26461657delinsGT | CA1239825364 | OTOF | c.5533+39_5533+40delinsAC (n.5533+39_5533+40delinsAC) c.3232+39_3232+40delinsAC (n.3232+39_3232+40delinsAC) c.3292+39_3292+40delinsAC (n.3292+39_3292+40delinsAC) c.3463+39_3463+40delinsAC (n.3463+39_3463+40delinsAC) c.5518+39_5518+40delinsAC (n.5518+39_5518+40delinsAC) c.5578+39_5578+40delinsAC (n.5578+39_5578+40delinsAC) c.5473+39_5473+40delinsAC (n.5473+39_5473+40delinsAC) | |
2 | g.26461657T>C | CA2658232503 | OTOF | c.5533+39A>G (n.5533+39A>G) c.3232+39A>G (n.3232+39A>G) c.3292+39A>G (n.3292+39A>G) c.3463+39A>G (n.3463+39A>G) c.5518+39A>G (n.5518+39A>G) c.5578+39A>G (n.5578+39A>G) c.5473+39A>G (n.5473+39A>G) | gnomAD v4 |
2 | g.26461658del | CA1028605053 | OTOF | c.5533+39del (n.5533+39del) c.3232+39del (n.3232+39del) c.3292+39del (n.3292+39del) c.3463+39del (n.3463+39del) c.5518+39del (n.5518+39del) c.5578+39del (n.5578+39del) c.5473+39del (n.5473+39del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26461658T>G | CA1562794 | OTOF | c.5533+38A>C (n.5533+38A>C) c.3232+38A>C (n.3232+38A>C) c.3292+38A>C (n.3292+38A>C) c.3463+38A>C (n.3463+38A>C) c.5518+38A>C (n.5518+38A>C) c.5578+38A>C (n.5578+38A>C) c.5473+38A>C (n.5473+38A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26461658T= | CA1239825365 | OTOF | c.5533+38A= (n.5533+38A=) c.3232+38A= (n.3232+38A=) c.3292+38A= (n.3292+38A=) c.3463+38A= (n.3463+38A=) c.5518+38A= (n.5518+38A=) c.5578+38A= (n.5578+38A=) c.5473+38A= (n.5473+38A=) | |
2 | g.26461659C>G | CA2658232510 | OTOF | c.5533+37G>C (n.5533+37G>C) c.3232+37G>C (n.3232+37G>C) c.3292+37G>C (n.3292+37G>C) c.3463+37G>C (n.3463+37G>C) c.5518+37G>C (n.5518+37G>C) c.5578+37G>C (n.5578+37G>C) c.5473+37G>C (n.5473+37G>C) | gnomAD v4 |
2 | g.26461659C>T | CA2658232512 | OTOF | c.5533+37G>A (n.5533+37G>A) c.3232+37G>A (n.3232+37G>A) c.3292+37G>A (n.3292+37G>A) c.3463+37G>A (n.3463+37G>A) c.5518+37G>A (n.5518+37G>A) c.5578+37G>A (n.5578+37G>A) c.5473+37G>A (n.5473+37G>A) | gnomAD v4 |
2 | g.26461660T>C | CA2658232515 | OTOF | c.5533+36A>G (n.5533+36A>G) c.3232+36A>G (n.3232+36A>G) c.3292+36A>G (n.3292+36A>G) c.3463+36A>G (n.3463+36A>G) c.5518+36A>G (n.5518+36A>G) c.5578+36A>G (n.5578+36A>G) c.5473+36A>G (n.5473+36A>G) | gnomAD v4 |
2 | g.26461661G>A | CA2658232517 | OTOF | c.5533+35C>T (n.5533+35C>T) c.3232+35C>T (n.3232+35C>T) c.3292+35C>T (n.3292+35C>T) c.3463+35C>T (n.3463+35C>T) c.5518+35C>T (n.5518+35C>T) c.5578+35C>T (n.5578+35C>T) c.5473+35C>T (n.5473+35C>T) | gnomAD v4 |
2 | g.26461661G>T | CA2658232519 | OTOF | c.5533+35C>A (n.5533+35C>A) c.3232+35C>A (n.3232+35C>A) c.3292+35C>A (n.3292+35C>A) c.3463+35C>A (n.3463+35C>A) c.5518+35C>A (n.5518+35C>A) c.5578+35C>A (n.5578+35C>A) c.5473+35C>A (n.5473+35C>A) | gnomAD v4 |
2 | g.26461662del | CA2839646930 | OTOF | c.5533+35del (n.5533+35del) c.3232+35del (n.3232+35del) c.3292+35del (n.3292+35del) c.3463+35del (n.3463+35del) c.5518+35del (n.5518+35del) c.5578+35del (n.5578+35del) c.5473+35del (n.5473+35del) | |
2 | g.26461662G>A | CA531761646 | OTOF | c.5533+34C>T (n.5533+34C>T) c.3232+34C>T (n.3232+34C>T) c.3292+34C>T (n.3292+34C>T) c.3463+34C>T (n.3463+34C>T) c.5518+34C>T (n.5518+34C>T) c.5578+34C>T (n.5578+34C>T) c.5473+34C>T (n.5473+34C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26461662G= | CA1239825366 | OTOF | c.5533+34C= (n.5533+34C=) c.3232+34C= (n.3232+34C=) c.3292+34C= (n.3292+34C=) c.3463+34C= (n.3463+34C=) c.5518+34C= (n.5518+34C=) c.5578+34C= (n.5578+34C=) c.5473+34C= (n.5473+34C=) | |
2 | g.26461664T>A | CA2576698802 | OTOF | c.5533+32A>T (n.5533+32A>T) c.3232+32A>T (n.3232+32A>T) c.3292+32A>T (n.3292+32A>T) c.3463+32A>T (n.3463+32A>T) c.5518+32A>T (n.5518+32A>T) c.5578+32A>T (n.5578+32A>T) c.5473+32A>T (n.5473+32A>T) | |
2 | g.26461665C= | CA1239825367 | OTOF | c.5533+31G= (n.5533+31G=) c.3232+31G= (n.3232+31G=) c.3292+31G= (n.3292+31G=) c.3463+31G= (n.3463+31G=) c.5518+31G= (n.5518+31G=) c.5578+31G= (n.5578+31G=) c.5473+31G= (n.5473+31G=) | |
2 | g.26461665C>G | CA1562795 | OTOF | c.5533+31G>C (n.5533+31G>C) c.3232+31G>C (n.3232+31G>C) c.3292+31G>C (n.3292+31G>C) c.3463+31G>C (n.3463+31G>C) c.5518+31G>C (n.5518+31G>C) c.5578+31G>C (n.5578+31G>C) c.5473+31G>C (n.5473+31G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26461666C>T | CA2658232525 | OTOF | c.5533+30G>A (n.5533+30G>A) c.3232+30G>A (n.3232+30G>A) c.3292+30G>A (n.3292+30G>A) c.3463+30G>A (n.3463+30G>A) c.5518+30G>A (n.5518+30G>A) c.5578+30G>A (n.5578+30G>A) c.5473+30G>A (n.5473+30G>A) | gnomAD v4 |
2 | g.26461667T>A | CA2658232528 | OTOF | c.5533+29A>T (n.5533+29A>T) c.3232+29A>T (n.3232+29A>T) c.3292+29A>T (n.3292+29A>T) c.3463+29A>T (n.3463+29A>T) c.5518+29A>T (n.5518+29A>T) c.5578+29A>T (n.5578+29A>T) c.5473+29A>T (n.5473+29A>T) | gnomAD v4 |
2 | g.26461667T>C | CA1562796 | OTOF | c.5533+29A>G (n.5533+29A>G) c.3232+29A>G (n.3232+29A>G) c.3292+29A>G (n.3292+29A>G) c.3463+29A>G (n.3463+29A>G) c.5518+29A>G (n.5518+29A>G) c.5578+29A>G (n.5578+29A>G) c.5473+29A>G (n.5473+29A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26461667T= | CA1239825368 | OTOF | c.5533+29A= (n.5533+29A=) c.3232+29A= (n.3232+29A=) c.3292+29A= (n.3292+29A=) c.3463+29A= (n.3463+29A=) c.5518+29A= (n.5518+29A=) c.5578+29A= (n.5578+29A=) c.5473+29A= (n.5473+29A=) | |
2 | g.26461668G>A | CA531761648 | OTOF | c.5533+28C>T (n.5533+28C>T) c.3232+28C>T (n.3232+28C>T) c.3292+28C>T (n.3292+28C>T) c.3463+28C>T (n.3463+28C>T) c.5518+28C>T (n.5518+28C>T) c.5578+28C>T (n.5578+28C>T) c.5473+28C>T (n.5473+28C>T) | dbSNP gnomAD v2 |
2 | g.26461668G= | CA1239825369 | OTOF | c.5533+28C= (n.5533+28C=) c.3232+28C= (n.3232+28C=) c.3292+28C= (n.3292+28C=) c.3463+28C= (n.3463+28C=) c.5518+28C= (n.5518+28C=) c.5578+28C= (n.5578+28C=) c.5473+28C= (n.5473+28C=) | |
2 | g.26461668G>T | CA2576698803 | OTOF | c.5533+28C>A (n.5533+28C>A) c.3232+28C>A (n.3232+28C>A) c.3292+28C>A (n.3292+28C>A) c.3463+28C>A (n.3463+28C>A) c.5518+28C>A (n.5518+28C>A) c.5578+28C>A (n.5578+28C>A) c.5473+28C>A (n.5473+28C>A) | |
2 | g.26461669A>G | CA2658232531 | OTOF | c.5533+27T>C (n.5533+27T>C) c.3232+27T>C (n.3232+27T>C) c.3292+27T>C (n.3292+27T>C) c.3463+27T>C (n.3463+27T>C) c.5518+27T>C (n.5518+27T>C) c.5578+27T>C (n.5578+27T>C) c.5473+27T>C (n.5473+27T>C) | gnomAD v4 |
2 | g.26461671C>A | CA2830665705 | OTOF | c.5533+25G>T (n.5533+25G>T) c.3232+25G>T (n.3232+25G>T) c.3292+25G>T (n.3292+25G>T) c.3463+25G>T (n.3463+25G>T) c.5518+25G>T (n.5518+25G>T) c.5578+25G>T (n.5578+25G>T) c.5473+25G>T (n.5473+25G>T) | |
2 | g.26461671C>T | CA2840398328 | OTOF | c.5533+25G>A (n.5533+25G>A) c.3232+25G>A (n.3232+25G>A) c.3292+25G>A (n.3292+25G>A) c.3463+25G>A (n.3463+25G>A) c.5518+25G>A (n.5518+25G>A) c.5578+25G>A (n.5578+25G>A) c.5473+25G>A (n.5473+25G>A) | |
2 | g.26461675del | CA2840398327 | OTOF | c.5533+25del (n.5533+25del) c.3232+25del (n.3232+25del) c.3292+25del (n.3292+25del) c.3463+25del (n.3463+25del) c.5518+25del (n.5518+25del) c.5578+25del (n.5578+25del) c.5473+25del (n.5473+25del) | |
2 | g.26461672C>A | CA1562797 | OTOF | c.5533+24G>T (n.5533+24G>T) c.3232+24G>T (n.3232+24G>T) c.3292+24G>T (n.3292+24G>T) c.3463+24G>T (n.3463+24G>T) c.5518+24G>T (n.5518+24G>T) c.5578+24G>T (n.5578+24G>T) c.5473+24G>T (n.5473+24G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26461672C= | CA1239825370 | OTOF | c.5533+24G= (n.5533+24G=) c.3232+24G= (n.3232+24G=) c.3292+24G= (n.3292+24G=) c.3463+24G= (n.3463+24G=) c.5518+24G= (n.5518+24G=) c.5578+24G= (n.5578+24G=) c.5473+24G= (n.5473+24G=) | |
2 | g.26461673C>A | CA2839235239 | OTOF | c.5533+23G>T (n.5533+23G>T) c.3232+23G>T (n.3232+23G>T) c.3292+23G>T (n.3292+23G>T) c.3463+23G>T (n.3463+23G>T) c.5518+23G>T (n.5518+23G>T) c.5578+23G>T (n.5578+23G>T) c.5473+23G>T (n.5473+23G>T) | |
2 | g.26461673C>T | CA2576698805 | OTOF | c.5533+23G>A (n.5533+23G>A) c.3232+23G>A (n.3232+23G>A) c.3292+23G>A (n.3292+23G>A) c.3463+23G>A (n.3463+23G>A) c.5518+23G>A (n.5518+23G>A) c.5578+23G>A (n.5578+23G>A) c.5473+23G>A (n.5473+23G>A) | |
2 | g.26461674C>A | CA2838412969 | OTOF | c.5533+22G>T (n.5533+22G>T) c.3232+22G>T (n.3232+22G>T) c.3292+22G>T (n.3292+22G>T) c.3463+22G>T (n.3463+22G>T) c.5518+22G>T (n.5518+22G>T) c.5578+22G>T (n.5578+22G>T) c.5473+22G>T (n.5473+22G>T) | |
2 | g.26461674C>T | CA646579995 | OTOF | c.5533+22G>A (n.5533+22G>A) c.3232+22G>A (n.3232+22G>A) c.3292+22G>A (n.3292+22G>A) c.3463+22G>A (n.3463+22G>A) c.5518+22G>A (n.5518+22G>A) c.5578+22G>A (n.5578+22G>A) c.5473+22G>A (n.5473+22G>A) | COSMIC |
2 | g.26461675C>A | CA2658232534 | OTOF | c.5533+21G>T (n.5533+21G>T) c.3232+21G>T (n.3232+21G>T) c.3292+21G>T (n.3292+21G>T) c.3463+21G>T (n.3463+21G>T) c.5518+21G>T (n.5518+21G>T) c.5578+21G>T (n.5578+21G>T) c.5473+21G>T (n.5473+21G>T) | gnomAD v4 |
2 | g.26461676A= | CA1239825371 | OTOF | c.5533+20T= (n.5533+20T=) c.3232+20T= (n.3232+20T=) c.3292+20T= (n.3292+20T=) c.3463+20T= (n.3463+20T=) c.5518+20T= (n.5518+20T=) c.5578+20T= (n.5578+20T=) c.5473+20T= (n.5473+20T=) | |
2 | g.26461676A>G | CA1239825372 | OTOF | c.5533+20T>C (n.5533+20T>C) c.3232+20T>C (n.3232+20T>C) c.3292+20T>C (n.3292+20T>C) c.3463+20T>C (n.3463+20T>C) c.5518+20T>C (n.5518+20T>C) c.5578+20T>C (n.5578+20T>C) c.5473+20T>C (n.5473+20T>C) | dbSNP |
2 | g.26461677T>C | CA2840398329 | OTOF | c.5533+19A>G (n.5533+19A>G) c.3232+19A>G (n.3232+19A>G) c.3292+19A>G (n.3292+19A>G) c.3463+19A>G (n.3463+19A>G) c.5518+19A>G (n.5518+19A>G) c.5578+19A>G (n.5578+19A>G) c.5473+19A>G (n.5473+19A>G) | |
2 | g.26461684_26461688dup | CA2739274262 | OTOF | c.5533+14_5533+18dup (n.5533+14_5533+18dup) c.3232+14_3232+18dup (n.3232+14_3232+18dup) c.3292+14_3292+18dup (n.3292+14_3292+18dup) c.3463+14_3463+18dup (n.3463+14_3463+18dup) c.5518+14_5518+18dup (n.5518+14_5518+18dup) c.5578+14_5578+18dup (n.5578+14_5578+18dup) c.5473+14_5473+18dup (n.5473+14_5473+18dup) | ClinVar |
2 | g.26461679C>A | CA2840398330 | OTOF | c.5533+17G>T (n.5533+17G>T) c.3232+17G>T (n.3232+17G>T) c.3292+17G>T (n.3292+17G>T) c.3463+17G>T (n.3463+17G>T) c.5518+17G>T (n.5518+17G>T) c.5578+17G>T (n.5578+17G>T) c.5473+17G>T (n.5473+17G>T) | |
2 | g.26461680C>A | CA2838412962 | OTOF | c.5533+16G>T (n.5533+16G>T) c.3232+16G>T (n.3232+16G>T) c.3292+16G>T (n.3292+16G>T) c.3463+16G>T (n.3463+16G>T) c.5518+16G>T (n.5518+16G>T) c.5578+16G>T (n.5578+16G>T) c.5473+16G>T (n.5473+16G>T) | |
2 | g.26461680C>T | CA2840398331 | OTOF | c.5533+16G>A (n.5533+16G>A) c.3232+16G>A (n.3232+16G>A) c.3292+16G>A (n.3292+16G>A) c.3463+16G>A (n.3463+16G>A) c.5518+16G>A (n.5518+16G>A) c.5578+16G>A (n.5578+16G>A) c.5473+16G>A (n.5473+16G>A) | |
2 | g.26461681T>C | CA2658232536 | OTOF | c.5533+15A>G (n.5533+15A>G) c.3232+15A>G (n.3232+15A>G) c.3292+15A>G (n.3292+15A>G) c.3463+15A>G (n.3463+15A>G) c.5518+15A>G (n.5518+15A>G) c.5578+15A>G (n.5578+15A>G) c.5473+15A>G (n.5473+15A>G) | gnomAD v4 |
2 | g.26461682G>T | CA2838462788 | OTOF | c.5533+14C>A (n.5533+14C>A) c.3232+14C>A (n.3232+14C>A) c.3292+14C>A (n.3292+14C>A) c.3463+14C>A (n.3463+14C>A) c.5518+14C>A (n.5518+14C>A) c.5578+14C>A (n.5578+14C>A) c.5473+14C>A (n.5473+14C>A) | |
2 | g.26461683C= | CA1239825373 | OTOF | c.5533+13G= (n.5533+13G=) c.3232+13G= (n.3232+13G=) c.3292+13G= (n.3292+13G=) c.3463+13G= (n.3463+13G=) c.5518+13G= (n.5518+13G=) c.5578+13G= (n.5578+13G=) c.5473+13G= (n.5473+13G=) | |
2 | g.26461683C>T | CA1239825374 | OTOF | c.5533+13G>A (n.5533+13G>A) c.3232+13G>A (n.3232+13G>A) c.3292+13G>A (n.3292+13G>A) c.3463+13G>A (n.3463+13G>A) c.5518+13G>A (n.5518+13G>A) c.5578+13G>A (n.5578+13G>A) c.5473+13G>A (n.5473+13G>A) | dbSNP gnomAD v4 |
2 | g.26461684C>A | CA2840398332 | OTOF | c.5533+12G>T (n.5533+12G>T) c.3232+12G>T (n.3232+12G>T) c.3292+12G>T (n.3292+12G>T) c.3463+12G>T (n.3463+12G>T) c.5518+12G>T (n.5518+12G>T) c.5578+12G>T (n.5578+12G>T) c.5473+12G>T (n.5473+12G>T) | |
2 | g.26461685C>A | CA2838462793 | OTOF | c.5533+11G>T (n.5533+11G>T) c.3232+11G>T (n.3232+11G>T) c.3292+11G>T (n.3292+11G>T) c.3463+11G>T (n.3463+11G>T) c.5518+11G>T (n.5518+11G>T) c.5578+11G>T (n.5578+11G>T) c.5473+11G>T (n.5473+11G>T) | |
2 | g.26461685C= | CA1239825375 | OTOF | c.5533+11G= (n.5533+11G=) c.3232+11G= (n.3232+11G=) c.3292+11G= (n.3292+11G=) c.3463+11G= (n.3463+11G=) c.5518+11G= (n.5518+11G=) c.5578+11G= (n.5578+11G=) c.5473+11G= (n.5473+11G=) | |
2 | g.26461685C>G | CA1239825376 | OTOF | c.5533+11G>C (n.5533+11G>C) c.3232+11G>C (n.3232+11G>C) c.3292+11G>C (n.3292+11G>C) c.3463+11G>C (n.3463+11G>C) c.5518+11G>C (n.5518+11G>C) c.5578+11G>C (n.5578+11G>C) c.5473+11G>C (n.5473+11G>C) | dbSNP |
2 | g.26461685C>T | CA1562798 | OTOF | c.5533+11G>A (n.5533+11G>A) c.3232+11G>A (n.3232+11G>A) c.3292+11G>A (n.3292+11G>A) c.3463+11G>A (n.3463+11G>A) c.5518+11G>A (n.5518+11G>A) c.5578+11G>A (n.5578+11G>A) c.5473+11G>A (n.5473+11G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26461686T>G | CA1239825378 | OTOF | c.5533+10A>C (n.5533+10A>C) c.3232+10A>C (n.3232+10A>C) c.3292+10A>C (n.3292+10A>C) c.3463+10A>C (n.3463+10A>C) c.5518+10A>C (n.5518+10A>C) c.5578+10A>C (n.5578+10A>C) c.5473+10A>C (n.5473+10A>C) | dbSNP |
2 | g.26461686T= | CA1239825377 | OTOF | c.5533+10A= (n.5533+10A=) c.3232+10A= (n.3232+10A=) c.3292+10A= (n.3292+10A=) c.3463+10A= (n.3463+10A=) c.5518+10A= (n.5518+10A=) c.5578+10A= (n.5578+10A=) c.5473+10A= (n.5473+10A=) | |
2 | g.26461687G>A | CA2840398333 | OTOF | c.5533+9C>T (n.5533+9C>T) c.3232+9C>T (n.3232+9C>T) c.3292+9C>T (n.3292+9C>T) c.3463+9C>T (n.3463+9C>T) c.5518+9C>T (n.5518+9C>T) c.5578+9C>T (n.5578+9C>T) c.5473+9C>T (n.5473+9C>T) | |
2 | g.26461687G>C | CA2697547848 | OTOF | c.5533+9C>G (n.5533+9C>G) c.3232+9C>G (n.3232+9C>G) c.3292+9C>G (n.3292+9C>G) c.3463+9C>G (n.3463+9C>G) c.5518+9C>G (n.5518+9C>G) c.5578+9C>G (n.5578+9C>G) c.5473+9C>G (n.5473+9C>G) | ClinVar |
2 | g.26461687G>T | CA2840398334 | OTOF | c.5533+9C>A (n.5533+9C>A) c.3232+9C>A (n.3232+9C>A) c.3292+9C>A (n.3292+9C>A) c.3463+9C>A (n.3463+9C>A) c.5518+9C>A (n.5518+9C>A) c.5578+9C>A (n.5578+9C>A) c.5473+9C>A (n.5473+9C>A) | |
2 | g.26461690C>A | CA2658232543 | OTOF | c.5533+6G>T (n.5533+6G>T) c.3232+6G>T (n.3232+6G>T) c.3292+6G>T (n.3292+6G>T) c.3463+6G>T (n.3463+6G>T) c.5518+6G>T (n.5518+6G>T) c.5578+6G>T (n.5578+6G>T) c.5473+6G>T (n.5473+6G>T) | gnomAD v4 |
2 | g.26461690C= | CA1239825379 | OTOF | c.5533+6G= (n.5533+6G=) c.3232+6G= (n.3232+6G=) c.3292+6G= (n.3292+6G=) c.3463+6G= (n.3463+6G=) c.5518+6G= (n.5518+6G=) c.5578+6G= (n.5578+6G=) c.5473+6G= (n.5473+6G=) | |
2 | g.26461690C>G | CA1562799 | OTOF | c.5533+6G>C (n.5533+6G>C) c.3232+6G>C (n.3232+6G>C) c.3292+6G>C (n.3292+6G>C) c.3463+6G>C (n.3463+6G>C) c.5518+6G>C (n.5518+6G>C) c.5578+6G>C (n.5578+6G>C) c.5473+6G>C (n.5473+6G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26461690C>T | CA1239825380 | OTOF | c.5533+6G>A (n.5533+6G>A) c.3232+6G>A (n.3232+6G>A) c.3292+6G>A (n.3292+6G>A) c.3463+6G>A (n.3463+6G>A) c.5518+6G>A (n.5518+6G>A) c.5578+6G>A (n.5578+6G>A) c.5473+6G>A (n.5473+6G>A) | dbSNP |
2 | g.26461691T>C | CA1562800 | OTOF | c.5533+5A>G (n.5533+5A>G) c.3232+5A>G (n.3232+5A>G) c.3292+5A>G (n.3292+5A>G) c.3463+5A>G (n.3463+5A>G) c.5518+5A>G (n.5518+5A>G) c.5578+5A>G (n.5578+5A>G) c.5473+5A>G (n.5473+5A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26461691T= | CA1239825381 | OTOF | c.5533+5A= (n.5533+5A=) c.3232+5A= (n.3232+5A=) c.3292+5A= (n.3292+5A=) c.3463+5A= (n.3463+5A=) c.5518+5A= (n.5518+5A=) c.5578+5A= (n.5578+5A=) c.5473+5A= (n.5473+5A=) | |
2 | g.26461693C>T | CA2658232549 | OTOF | c.5533+3G>A (n.5533+3G>A) c.3232+3G>A (n.3232+3G>A) c.3292+3G>A (n.3292+3G>A) c.3463+3G>A (n.3463+3G>A) c.5518+3G>A (n.5518+3G>A) c.5578+3G>A (n.5578+3G>A) c.5473+3G>A (n.5473+3G>A) | gnomAD v4 |
2 | g.26461694A>C | CA346131235 | OTOF | c.5533+2T>G (n.5533+2T>G) c.3232+2T>G (n.3232+2T>G) c.3292+2T>G (n.3292+2T>G) c.3463+2T>G (n.3463+2T>G) c.5518+2T>G (n.5518+2T>G) c.5578+2T>G (n.5578+2T>G) c.5473+2T>G (n.5473+2T>G) | |
2 | g.26461694A>G | CA346131236 | OTOF | c.5533+2T>C (n.5533+2T>C) c.3232+2T>C (n.3232+2T>C) c.3292+2T>C (n.3292+2T>C) c.3463+2T>C (n.3463+2T>C) c.5518+2T>C (n.5518+2T>C) c.5578+2T>C (n.5578+2T>C) c.5473+2T>C (n.5473+2T>C) | |
2 | g.26461694A>T | CA346131237 | OTOF | c.5533+2T>A (n.5533+2T>A) c.3232+2T>A (n.3232+2T>A) c.3292+2T>A (n.3292+2T>A) c.3463+2T>A (n.3463+2T>A) c.5518+2T>A (n.5518+2T>A) c.5578+2T>A (n.5578+2T>A) c.5473+2T>A (n.5473+2T>A) | |
2 | g.26461695C>A | CA346131238 | OTOF | c.5533+1G>T (n.5533+1G>T) c.3232+1G>T (n.3232+1G>T) c.3292+1G>T (n.3292+1G>T) c.3463+1G>T (n.3463+1G>T) c.5518+1G>T (n.5518+1G>T) c.5578+1G>T (n.5578+1G>T) c.5473+1G>T (n.5473+1G>T) | |
2 | g.26461695C= | CA1239825382 | OTOF | c.5533+1G= (n.5533+1G=) c.3232+1G= (n.3232+1G=) c.3292+1G= (n.3292+1G=) c.3463+1G= (n.3463+1G=) c.5518+1G= (n.5518+1G=) c.5578+1G= (n.5578+1G=) c.5473+1G= (n.5473+1G=) | |
2 | g.26461695C>G | CA346131239 | OTOF | c.5533+1G>C (n.5533+1G>C) c.3232+1G>C (n.3232+1G>C) c.3292+1G>C (n.3292+1G>C) c.3463+1G>C (n.3463+1G>C) c.5518+1G>C (n.5518+1G>C) c.5578+1G>C (n.5578+1G>C) c.5473+1G>C (n.5473+1G>C) | |
2 | g.26461695C>T | CA346131240 | OTOF | c.5533+1G>A (n.5533+1G>A) c.3232+1G>A (n.3232+1G>A) c.3292+1G>A (n.3292+1G>A) c.3463+1G>A (n.3463+1G>A) c.5518+1G>A (n.5518+1G>A) c.5578+1G>A (n.5578+1G>A) c.5473+1G>A (n.5473+1G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.26461696C>A | CA346131243 | OTOF | c.5533G>T (p.Gly1845Trp) c.3232G>T (p.Gly1078Trp) c.3292G>T (p.Gly1098Trp) c.3463G>T (p.Gly1155Trp) c.5518G>T (p.Gly1840Trp) c.5578G>T (p.Gly1860Trp) c.5473G>T (p.Gly1825Trp) | |
2 | g.26461696C>G | CA346131242 | OTOF | c.5533G>C (p.Gly1845Arg) c.3232G>C (p.Gly1078Arg) c.3292G>C (p.Gly1098Arg) c.3463G>C (p.Gly1155Arg) c.5518G>C (p.Gly1840Arg) c.5578G>C (p.Gly1860Arg) c.5473G>C (p.Gly1825Arg) | |
2 | g.26461696C>T | CA346131241 | OTOF | c.5533G>A (p.Gly1845Arg) c.3232G>A (p.Gly1078Arg) c.3292G>A (p.Gly1098Arg) c.3463G>A (p.Gly1155Arg) c.5518G>A (p.Gly1840Arg) c.5578G>A (p.Gly1860Arg) c.5473G>A (p.Gly1825Arg) | |
2 | g.26461697C>A | CA425359119 | OTOF | c.5532G>T (p.Leu1844=) c.3231G>T (p.Leu1077=) c.3291G>T (p.Leu1097=) c.3462G>T (p.Leu1154=) c.5517G>T (p.Leu1839=) c.5577G>T (p.Leu1859=) c.5472G>T (p.Leu1824=) | |
2 | g.26461697C>G | CA425359120 | OTOF | c.5532G>C (p.Leu1844=) c.3231G>C (p.Leu1077=) c.3291G>C (p.Leu1097=) c.3462G>C (p.Leu1154=) c.5517G>C (p.Leu1839=) c.5577G>C (p.Leu1859=) c.5472G>C (p.Leu1824=) | |
2 | g.26461697C>T | CA425359121 | OTOF | c.5532G>A (p.Leu1844=) c.3231G>A (p.Leu1077=) c.3291G>A (p.Leu1097=) c.3462G>A (p.Leu1154=) c.5517G>A (p.Leu1839=) c.5577G>A (p.Leu1859=) c.5472G>A (p.Leu1824=) | |
2 | g.26461697_26461698delinsCA | CA1239825383 | OTOF | c.5531_5532delinsTG (p.Leu1844=) c.3230_3231delinsTG (p.Leu1077=) c.3290_3291delinsTG (p.Leu1097=) c.3461_3462delinsTG (p.Leu1154=) c.5516_5517delinsTG (p.Leu1839=) c.5576_5577delinsTG (p.Leu1859=) c.5471_5472delinsTG (p.Leu1824=) | |
2 | g.26461698del | CA767290280 | OTOF | c.5531del (p.Leu1844ArgfsTer8) c.3230del (p.Leu1077ArgfsTer8) c.3290del (p.Leu1097ArgfsTer8) c.3461del (p.Leu1154ArgfsTer8) c.5516del (p.Leu1839ArgfsTer8) c.5576del (p.Leu1859ArgfsTer8) c.5471del (p.Leu1824ArgfsTer8) | ClinVar dbSNP |
2 | g.26461698A>C | CA346131244 | OTOF | c.5531T>G (p.Leu1844Arg) c.3230T>G (p.Leu1077Arg) c.3290T>G (p.Leu1097Arg) c.3461T>G (p.Leu1154Arg) c.5516T>G (p.Leu1839Arg) c.5576T>G (p.Leu1859Arg) c.5471T>G (p.Leu1824Arg) | gnomAD v4 |
2 | g.26461698A>G | CA346131245 | OTOF | c.5531T>C (p.Leu1844Pro) c.3230T>C (p.Leu1077Pro) c.3290T>C (p.Leu1097Pro) c.3461T>C (p.Leu1154Pro) c.5516T>C (p.Leu1839Pro) c.5576T>C (p.Leu1859Pro) c.5471T>C (p.Leu1824Pro) | |
2 | g.26461698A>T | CA346131246 | OTOF | c.5531T>A (p.Leu1844Gln) c.3230T>A (p.Leu1077Gln) c.3290T>A (p.Leu1097Gln) c.3461T>A (p.Leu1154Gln) c.5516T>A (p.Leu1839Gln) c.5576T>A (p.Leu1859Gln) c.5471T>A (p.Leu1824Gln) | |
2 | g.26461699G>A | CA44409002 | OTOF | c.5530C>T (p.Leu1844=) c.3229C>T (p.Leu1077=) c.3289C>T (p.Leu1097=) c.3460C>T (p.Leu1154=) c.5515C>T (p.Leu1839=) c.5575C>T (p.Leu1859=) c.5470C>T (p.Leu1824=) | dbSNP |
2 | g.26461699G>C | CA346131247 | OTOF | c.5530C>G (p.Leu1844Val) c.3229C>G (p.Leu1077Val) c.3289C>G (p.Leu1097Val) c.3460C>G (p.Leu1154Val) c.5515C>G (p.Leu1839Val) c.5575C>G (p.Leu1859Val) c.5470C>G (p.Leu1824Val) | |
2 | g.26461699G= | CA1239825384 | OTOF | c.5530C= (p.Leu1844=) c.3229C= (p.Leu1077=) c.3289C= (p.Leu1097=) c.3460C= (p.Leu1154=) c.5515C= (p.Leu1839=) c.5575C= (p.Leu1859=) c.5470C= (p.Leu1824=) | |
2 | g.26461699G>T | CA346131248 | OTOF | c.5530C>A (p.Leu1844Met) c.3229C>A (p.Leu1077Met) c.3289C>A (p.Leu1097Met) c.3460C>A (p.Leu1154Met) c.5515C>A (p.Leu1839Met) c.5575C>A (p.Leu1859Met) c.5470C>A (p.Leu1824Met) | |
2 | g.26461700G>A | CA425359143 | OTOF | c.5529C>T (p.Phe1843=) c.3228C>T (p.Phe1076=) c.3288C>T (p.Phe1096=) c.3459C>T (p.Phe1153=) c.5514C>T (p.Phe1838=) c.5574C>T (p.Phe1858=) c.5469C>T (p.Phe1823=) | |
2 | g.26461700G>C | CA346131249 | OTOF | c.5529C>G (p.Phe1843Leu) c.3228C>G (p.Phe1076Leu) c.3288C>G (p.Phe1096Leu) c.3459C>G (p.Phe1153Leu) c.5514C>G (p.Phe1838Leu) c.5574C>G (p.Phe1858Leu) c.5469C>G (p.Phe1823Leu) | |
2 | g.26461700G>T | CA346131250 | OTOF | c.5529C>A (p.Phe1843Leu) c.3228C>A (p.Phe1076Leu) c.3288C>A (p.Phe1096Leu) c.3459C>A (p.Phe1153Leu) c.5514C>A (p.Phe1838Leu) c.5574C>A (p.Phe1858Leu) c.5469C>A (p.Phe1823Leu) | |
2 | g.26461701A>C | CA346131251 | OTOF | c.5528T>G (p.Phe1843Cys) c.3227T>G (p.Phe1076Cys) c.3287T>G (p.Phe1096Cys) c.3458T>G (p.Phe1153Cys) c.5513T>G (p.Phe1838Cys) c.5573T>G (p.Phe1858Cys) c.5468T>G (p.Phe1823Cys) | |
2 | g.26461701A>G | CA346131252 | OTOF | c.5528T>C (p.Phe1843Ser) c.3227T>C (p.Phe1076Ser) c.3287T>C (p.Phe1096Ser) c.3458T>C (p.Phe1153Ser) c.5513T>C (p.Phe1838Ser) c.5573T>C (p.Phe1858Ser) c.5468T>C (p.Phe1823Ser) | |
2 | g.26461701A>T | CA346131253 | OTOF | c.5528T>A (p.Phe1843Tyr) c.3227T>A (p.Phe1076Tyr) c.3287T>A (p.Phe1096Tyr) c.3458T>A (p.Phe1153Tyr) c.5513T>A (p.Phe1838Tyr) c.5573T>A (p.Phe1858Tyr) c.5468T>A (p.Phe1823Tyr) | |
2 | g.26461702A>C | CA346131254 | OTOF | c.5527T>G (p.Phe1843Val) c.3226T>G (p.Phe1076Val) c.3286T>G (p.Phe1096Val) c.3457T>G (p.Phe1153Val) c.5512T>G (p.Phe1838Val) c.5572T>G (p.Phe1858Val) c.5467T>G (p.Phe1823Val) | |
2 | g.26461702A>G | CA346131255 | OTOF | c.5527T>C (p.Phe1843Leu) c.3226T>C (p.Phe1076Leu) c.3286T>C (p.Phe1096Leu) c.3457T>C (p.Phe1153Leu) c.5512T>C (p.Phe1838Leu) c.5572T>C (p.Phe1858Leu) c.5467T>C (p.Phe1823Leu) | |
2 | g.26461702A>T | CA346131256 | OTOF | c.5527T>A (p.Phe1843Ile) c.3226T>A (p.Phe1076Ile) c.3286T>A (p.Phe1096Ile) c.3457T>A (p.Phe1153Ile) c.5512T>A (p.Phe1838Ile) c.5572T>A (p.Phe1858Ile) c.5467T>A (p.Phe1823Ile) | |
2 | g.26461702_26461705delinsAGTC | CA1239825385 | OTOF | c.5524_5527delinsGACT (p.Asp1842=) c.3223_3226delinsGACT (p.Asp1075=) c.3283_3286delinsGACT (p.Asp1095=) c.3454_3457delinsGACT (p.Asp1152=) c.5509_5512delinsGACT (p.Asp1837=) c.5569_5572delinsGACT (p.Asp1857=) c.5464_5467delinsGACT (p.Asp1822=) | |
2 | g.26461703G>A | CA425359158 | OTOF | c.5526C>T (p.Asp1842=) c.3225C>T (p.Asp1075=) c.3285C>T (p.Asp1095=) c.3456C>T (p.Asp1152=) c.5511C>T (p.Asp1837=) c.5571C>T (p.Asp1857=) c.5466C>T (p.Asp1822=) | |
2 | g.26461703G>C | CA346131258 | OTOF | c.5526C>G (p.Asp1842Glu) c.3225C>G (p.Asp1075Glu) c.3285C>G (p.Asp1095Glu) c.3456C>G (p.Asp1152Glu) c.5511C>G (p.Asp1837Glu) c.5571C>G (p.Asp1857Glu) c.5466C>G (p.Asp1822Glu) | |
2 | g.26461703G>T | CA346131257 | OTOF | c.5526C>A (p.Asp1842Glu) c.3225C>A (p.Asp1075Glu) c.3285C>A (p.Asp1095Glu) c.3456C>A (p.Asp1152Glu) c.5511C>A (p.Asp1837Glu) c.5571C>A (p.Asp1857Glu) c.5466C>A (p.Asp1822Glu) | |
2 | g.26461706_26461708del | CA1239825386 | OTOF | c.5524_5526del (p.Asp1842del) c.3223_3225del (p.Asp1075del) c.3283_3285del (p.Asp1095del) c.3454_3456del (p.Asp1152del) c.5509_5511del (p.Asp1837del) c.5569_5571del (p.Asp1857del) c.5464_5466del (p.Asp1822del) | dbSNP gnomAD v4 |
2 | g.26461704T>A | CA346131259 | OTOF | c.5525A>T (p.Asp1842Val) c.3224A>T (p.Asp1075Val) c.3284A>T (p.Asp1095Val) c.3455A>T (p.Asp1152Val) c.5510A>T (p.Asp1837Val) c.5570A>T (p.Asp1857Val) c.5465A>T (p.Asp1822Val) | |
2 | g.26461704T>C | CA346131260 | OTOF | c.5525A>G (p.Asp1842Gly) c.3224A>G (p.Asp1075Gly) c.3284A>G (p.Asp1095Gly) c.3455A>G (p.Asp1152Gly) c.5510A>G (p.Asp1837Gly) c.5570A>G (p.Asp1857Gly) c.5465A>G (p.Asp1822Gly) | |
2 | g.26461704T>G | CA346131261 | OTOF | c.5525A>C (p.Asp1842Ala) c.3224A>C (p.Asp1075Ala) c.3284A>C (p.Asp1095Ala) c.3455A>C (p.Asp1152Ala) c.5510A>C (p.Asp1837Ala) c.5570A>C (p.Asp1857Ala) c.5465A>C (p.Asp1822Ala) | |
2 | g.26461705C>A | CA346131262 | OTOF | c.5524G>T (p.Asp1842Tyr) c.3223G>T (p.Asp1075Tyr) c.3283G>T (p.Asp1095Tyr) c.3454G>T (p.Asp1152Tyr) c.5509G>T (p.Asp1837Tyr) c.5569G>T (p.Asp1857Tyr) c.5464G>T (p.Asp1822Tyr) | |
2 | g.26461705C= | CA1239825387 | OTOF | c.5524G= (p.Asp1842=) c.3223G= (p.Asp1075=) c.3283G= (p.Asp1095=) c.3454G= (p.Asp1152=) c.5509G= (p.Asp1837=) c.5569G= (p.Asp1857=) c.5464G= (p.Asp1822=) | |
2 | g.26461705C>G | CA346131263 | OTOF | c.5524G>C (p.Asp1842His) c.3223G>C (p.Asp1075His) c.3283G>C (p.Asp1095His) c.3454G>C (p.Asp1152His) c.5509G>C (p.Asp1837His) c.5569G>C (p.Asp1857His) c.5464G>C (p.Asp1822His) | |
2 | g.26461705C>T | CA346131264 | OTOF | c.5524G>A (p.Asp1842Asn) c.3223G>A (p.Asp1075Asn) c.3283G>A (p.Asp1095Asn) c.3454G>A (p.Asp1152Asn) c.5509G>A (p.Asp1837Asn) c.5569G>A (p.Asp1857Asn) c.5464G>A (p.Asp1822Asn) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26461706G>A | CA1562801 | OTOF | c.5523C>T (p.Asp1841=) c.3222C>T (p.Asp1074=) c.3282C>T (p.Asp1094=) c.3453C>T (p.Asp1151=) c.5508C>T (p.Asp1836=) c.5568C>T (p.Asp1856=) c.5463C>T (p.Asp1821=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
2 | g.26461706G>C | CA346131265 | OTOF | c.5523C>G (p.Asp1841Glu) c.3222C>G (p.Asp1074Glu) c.3282C>G (p.Asp1094Glu) c.3453C>G (p.Asp1151Glu) c.5508C>G (p.Asp1836Glu) c.5568C>G (p.Asp1856Glu) c.5463C>G (p.Asp1821Glu) | |
2 | g.26461706G= | CA1239825388 | OTOF | c.5523C= (p.Asp1841=) c.3222C= (p.Asp1074=) c.3282C= (p.Asp1094=) c.3453C= (p.Asp1151=) c.5508C= (p.Asp1836=) c.5568C= (p.Asp1856=) c.5463C= (p.Asp1821=) | |
2 | g.26461706G>T | CA346131266 | OTOF | c.5523C>A (p.Asp1841Glu) c.3222C>A (p.Asp1074Glu) c.3282C>A (p.Asp1094Glu) c.3453C>A (p.Asp1151Glu) c.5508C>A (p.Asp1836Glu) c.5568C>A (p.Asp1856Glu) c.5463C>A (p.Asp1821Glu) | |
2 | g.26461707T>A | CA346131267 | OTOF | c.5522A>T (p.Asp1841Val) c.3221A>T (p.Asp1074Val) c.3281A>T (p.Asp1094Val) c.3452A>T (p.Asp1151Val) c.5507A>T (p.Asp1836Val) c.5567A>T (p.Asp1856Val) c.5462A>T (p.Asp1821Val) | gnomAD v4 |
2 | g.26461707T>C | CA346131268 | OTOF | c.5522A>G (p.Asp1841Gly) c.3221A>G (p.Asp1074Gly) c.3281A>G (p.Asp1094Gly) c.3452A>G (p.Asp1151Gly) c.5507A>G (p.Asp1836Gly) c.5567A>G (p.Asp1856Gly) c.5462A>G (p.Asp1821Gly) | |
2 | g.26461707T>G | CA346131269 | OTOF | c.5522A>C (p.Asp1841Ala) c.3221A>C (p.Asp1074Ala) c.3281A>C (p.Asp1094Ala) c.3452A>C (p.Asp1151Ala) c.5507A>C (p.Asp1836Ala) c.5567A>C (p.Asp1856Ala) c.5462A>C (p.Asp1821Ala) | |
2 | g.26461708C>A | CA346131271 | OTOF | c.5521G>T (p.Asp1841Tyr) c.3220G>T (p.Asp1074Tyr) c.3280G>T (p.Asp1094Tyr) c.3451G>T (p.Asp1151Tyr) c.5506G>T (p.Asp1836Tyr) c.5566G>T (p.Asp1856Tyr) c.5461G>T (p.Asp1821Tyr) | |
2 | g.26461708C>G | CA346131272 | OTOF | c.5521G>C (p.Asp1841His) c.3220G>C (p.Asp1074His) c.3280G>C (p.Asp1094His) c.3451G>C (p.Asp1151His) c.5506G>C (p.Asp1836His) c.5566G>C (p.Asp1856His) c.5461G>C (p.Asp1821His) | |
2 | g.26461708C>T | CA346131270 | OTOF | c.5521G>A (p.Asp1841Asn) c.3220G>A (p.Asp1074Asn) c.3280G>A (p.Asp1094Asn) c.3451G>A (p.Asp1151Asn) c.5506G>A (p.Asp1836Asn) c.5566G>A (p.Asp1856Asn) c.5461G>A (p.Asp1821Asn) | |
2 | g.26461708_26461709delinsCA | CA1239825389 | OTOF | c.5520_5521delinsTG (p.Ala1840=) c.3219_3220delinsTG (p.Ala1073=) c.3279_3280delinsTG (p.Ala1093=) c.3450_3451delinsTG (p.Ala1150=) c.5505_5506delinsTG (p.Ala1835=) c.5565_5566delinsTG (p.Ala1855=) c.5460_5461delinsTG (p.Ala1820=) | |
2 | g.26461709del | CA1562802 | OTOF | c.5520del (p.Asp1841ThrfsTer11) c.3219del (p.Asp1074ThrfsTer11) c.3279del (p.Asp1094ThrfsTer11) c.3450del (p.Asp1151ThrfsTer11) c.5505del (p.Asp1836ThrfsTer11) c.5565del (p.Asp1856ThrfsTer11) c.5460del (p.Asp1821ThrfsTer11) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26461709A= | CA1239825390 | OTOF | c.5520T= (p.Ala1840=) c.3219T= (p.Ala1073=) c.3279T= (p.Ala1093=) c.3450T= (p.Ala1150=) c.5505T= (p.Ala1835=) c.5565T= (p.Ala1855=) c.5460T= (p.Ala1820=) | |
2 | g.26461709A>C | CA425359195 | OTOF | c.5520T>G (p.Ala1840=) c.3219T>G (p.Ala1073=) c.3279T>G (p.Ala1093=) c.3450T>G (p.Ala1150=) c.5505T>G (p.Ala1835=) c.5565T>G (p.Ala1855=) c.5460T>G (p.Ala1820=) | dbSNP gnomAD v2 |
2 | g.26461709A>G | CA425359190 | OTOF | c.5520T>C (p.Ala1840=) c.3219T>C (p.Ala1073=) c.3279T>C (p.Ala1093=) c.3450T>C (p.Ala1150=) c.5505T>C (p.Ala1835=) c.5565T>C (p.Ala1855=) c.5460T>C (p.Ala1820=) | |
2 | g.26461709A>T | CA44409049 | OTOF | c.5520T>A (p.Ala1840=) c.3219T>A (p.Ala1073=) c.3279T>A (p.Ala1093=) c.3450T>A (p.Ala1150=) c.5505T>A (p.Ala1835=) c.5565T>A (p.Ala1855=) c.5460T>A (p.Ala1820=) | dbSNP gnomAD v4 |
2 | g.26461710G>A | CA346131273 | OTOF | c.5519C>T (p.Ala1840Val) c.3218C>T (p.Ala1073Val) c.3278C>T (p.Ala1093Val) c.3449C>T (p.Ala1150Val) c.5504C>T (p.Ala1835Val) c.5564C>T (p.Ala1855Val) c.5459C>T (p.Ala1820Val) | |
2 | g.26461710G>C | CA346131274 | OTOF | c.5519C>G (p.Ala1840Gly) c.3218C>G (p.Ala1073Gly) c.3278C>G (p.Ala1093Gly) c.3449C>G (p.Ala1150Gly) c.5504C>G (p.Ala1835Gly) c.5564C>G (p.Ala1855Gly) c.5459C>G (p.Ala1820Gly) | |
2 | g.26461710G>T | CA346131275 | OTOF | c.5519C>A (p.Ala1840Asp) c.3218C>A (p.Ala1073Asp) c.3278C>A (p.Ala1093Asp) c.3449C>A (p.Ala1150Asp) c.5504C>A (p.Ala1835Asp) c.5564C>A (p.Ala1855Asp) c.5459C>A (p.Ala1820Asp) | |
2 | g.26461711C>A | CA346131277 | OTOF | c.5518G>T (p.Ala1840Ser) c.3217G>T (p.Ala1073Ser) c.3277G>T (p.Ala1093Ser) c.3448G>T (p.Ala1150Ser) c.5503G>T (p.Ala1835Ser) c.5563G>T (p.Ala1855Ser) c.5458G>T (p.Ala1820Ser) | |
2 | g.26461711C= | CA1239825391 | OTOF | c.5518G= (p.Ala1840=) c.3217G= (p.Ala1073=) c.3277G= (p.Ala1093=) c.3448G= (p.Ala1150=) c.5503G= (p.Ala1835=) c.5563G= (p.Ala1855=) c.5458G= (p.Ala1820=) | |
2 | g.26461711C>G | CA346131276 | OTOF | c.5518G>C (p.Ala1840Pro) c.3217G>C (p.Ala1073Pro) c.3277G>C (p.Ala1093Pro) c.3448G>C (p.Ala1150Pro) c.5503G>C (p.Ala1835Pro) c.5563G>C (p.Ala1855Pro) c.5458G>C (p.Ala1820Pro) | |
2 | g.26461711C>T | CA1562803 | OTOF | c.5518G>A (p.Ala1840Thr) c.3217G>A (p.Ala1073Thr) c.3277G>A (p.Ala1093Thr) c.3448G>A (p.Ala1150Thr) c.5503G>A (p.Ala1835Thr) c.5563G>A (p.Ala1855Thr) c.5458G>A (p.Ala1820Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26461712G>A | CA1562804 | OTOF | c.5517C>T (p.Ser1839=) c.3216C>T (p.Ser1072=) c.3276C>T (p.Ser1092=) c.3447C>T (p.Ser1149=) c.5502C>T (p.Ser1834=) c.5562C>T (p.Ser1854=) c.5457C>T (p.Ser1819=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26461712G>C | CA425359203 | OTOF | c.5517C>G (p.Ser1839=) c.3216C>G (p.Ser1072=) c.3276C>G (p.Ser1092=) c.3447C>G (p.Ser1149=) c.5502C>G (p.Ser1834=) c.5562C>G (p.Ser1854=) c.5457C>G (p.Ser1819=) | |
2 | g.26461712G= | CA1239825392 | OTOF | c.5517C= (p.Ser1839=) c.3216C= (p.Ser1072=) c.3276C= (p.Ser1092=) c.3447C= (p.Ser1149=) c.5502C= (p.Ser1834=) c.5562C= (p.Ser1854=) c.5457C= (p.Ser1819=) | |
2 | g.26461712G>T | CA425359205 | OTOF | c.5517C>A (p.Ser1839=) c.3216C>A (p.Ser1072=) c.3276C>A (p.Ser1092=) c.3447C>A (p.Ser1149=) c.5502C>A (p.Ser1834=) c.5562C>A (p.Ser1854=) c.5457C>A (p.Ser1819=) | |
2 | g.26461713G>A | CA346131278 | OTOF | c.5516C>T (p.Ser1839Phe) c.3215C>T (p.Ser1072Phe) c.3275C>T (p.Ser1092Phe) c.3446C>T (p.Ser1149Phe) c.5501C>T (p.Ser1834Phe) c.5561C>T (p.Ser1854Phe) c.5456C>T (p.Ser1819Phe) | |
2 | g.26461713G>C | CA346131279 | OTOF | c.5516C>G (p.Ser1839Cys) c.3215C>G (p.Ser1072Cys) c.3275C>G (p.Ser1092Cys) c.3446C>G (p.Ser1149Cys) c.5501C>G (p.Ser1834Cys) c.5561C>G (p.Ser1854Cys) c.5456C>G (p.Ser1819Cys) | |
2 | g.26461713G>T | CA346131280 | OTOF | c.5516C>A (p.Ser1839Tyr) c.3215C>A (p.Ser1072Tyr) c.3275C>A (p.Ser1092Tyr) c.3446C>A (p.Ser1149Tyr) c.5501C>A (p.Ser1834Tyr) c.5561C>A (p.Ser1854Tyr) c.5456C>A (p.Ser1819Tyr) | |
2 | g.26461714A>C | CA346131281 | OTOF | c.5515T>G (p.Ser1839Ala) c.3214T>G (p.Ser1072Ala) c.3274T>G (p.Ser1092Ala) c.3445T>G (p.Ser1149Ala) c.5500T>G (p.Ser1834Ala) c.5560T>G (p.Ser1854Ala) c.5455T>G (p.Ser1819Ala) | |
2 | g.26461714A>G | CA346131282 | OTOF | c.5515T>C (p.Ser1839Pro) c.3214T>C (p.Ser1072Pro) c.3274T>C (p.Ser1092Pro) c.3445T>C (p.Ser1149Pro) c.5500T>C (p.Ser1834Pro) c.5560T>C (p.Ser1854Pro) c.5455T>C (p.Ser1819Pro) | |
2 | g.26461714A>T | CA346131283 | OTOF | c.5515T>A (p.Ser1839Thr) c.3214T>A (p.Ser1072Thr) c.3274T>A (p.Ser1092Thr) c.3445T>A (p.Ser1149Thr) c.5500T>A (p.Ser1834Thr) c.5560T>A (p.Ser1854Thr) c.5455T>A (p.Ser1819Thr) | |
2 | g.26461715G>A | CA425359209 | OTOF | c.5514C>T (p.Phe1838=) c.3213C>T (p.Phe1071=) c.3273C>T (p.Phe1091=) c.3444C>T (p.Phe1148=) c.5499C>T (p.Phe1833=) c.5559C>T (p.Phe1853=) c.5454C>T (p.Phe1818=) | gnomAD v4 |
2 | g.26461715G>C | CA346131285 | OTOF | c.5514C>G (p.Phe1838Leu) c.3213C>G (p.Phe1071Leu) c.3273C>G (p.Phe1091Leu) c.3444C>G (p.Phe1148Leu) c.5499C>G (p.Phe1833Leu) c.5559C>G (p.Phe1853Leu) c.5454C>G (p.Phe1818Leu) | |
2 | g.26461715G= | CA1239825393 | OTOF | c.5514C= (p.Phe1838=) c.3213C= (p.Phe1071=) c.3273C= (p.Phe1091=) c.3444C= (p.Phe1148=) c.5499C= (p.Phe1833=) c.5559C= (p.Phe1853=) c.5454C= (p.Phe1818=) | |
2 | g.26461715G>T | CA346131284 | OTOF | c.5514C>A (p.Phe1838Leu) c.3213C>A (p.Phe1071Leu) c.3273C>A (p.Phe1091Leu) c.3444C>A (p.Phe1148Leu) c.5499C>A (p.Phe1833Leu) c.5559C>A (p.Phe1853Leu) c.5454C>A (p.Phe1818Leu) | dbSNP gnomAD v2 |
2 | g.26461716A>C | CA346131286 | OTOF | c.5513T>G (p.Phe1838Cys) c.3212T>G (p.Phe1071Cys) c.3272T>G (p.Phe1091Cys) c.3443T>G (p.Phe1148Cys) c.5498T>G (p.Phe1833Cys) c.5558T>G (p.Phe1853Cys) c.5453T>G (p.Phe1818Cys) | |
2 | g.26461716A>G | CA346131288 | OTOF | c.5513T>C (p.Phe1838Ser) c.3212T>C (p.Phe1071Ser) c.3272T>C (p.Phe1091Ser) c.3443T>C (p.Phe1148Ser) c.5498T>C (p.Phe1833Ser) c.5558T>C (p.Phe1853Ser) c.5453T>C (p.Phe1818Ser) | |
2 | g.26461716A>T | CA346131287 | OTOF | c.5513T>A (p.Phe1838Tyr) c.3212T>A (p.Phe1071Tyr) c.3272T>A (p.Phe1091Tyr) c.3443T>A (p.Phe1148Tyr) c.5498T>A (p.Phe1833Tyr) c.5558T>A (p.Phe1853Tyr) c.5453T>A (p.Phe1818Tyr) | |
2 | g.26461717A>C | CA346131289 | OTOF | c.5512T>G (p.Phe1838Val) c.3211T>G (p.Phe1071Val) c.3271T>G (p.Phe1091Val) c.3442T>G (p.Phe1148Val) c.5497T>G (p.Phe1833Val) c.5557T>G (p.Phe1853Val) c.5452T>G (p.Phe1818Val) | |
2 | g.26461717A>G | CA346131290 | OTOF | c.5512T>C (p.Phe1838Leu) c.3211T>C (p.Phe1071Leu) c.3271T>C (p.Phe1091Leu) c.3442T>C (p.Phe1148Leu) c.5497T>C (p.Phe1833Leu) c.5557T>C (p.Phe1853Leu) c.5452T>C (p.Phe1818Leu) | |
2 | g.26461717A>T | CA346131291 | OTOF | c.5512T>A (p.Phe1838Ile) c.3211T>A (p.Phe1071Ile) c.3271T>A (p.Phe1091Ile) c.3442T>A (p.Phe1148Ile) c.5497T>A (p.Phe1833Ile) c.5557T>A (p.Phe1853Ile) c.5452T>A (p.Phe1818Ile) | |
2 | g.26461718G>A | CA425359219 | OTOF | c.5511C>T (p.His1837=) c.3210C>T (p.His1070=) c.3270C>T (p.His1090=) c.3441C>T (p.His1147=) c.5496C>T (p.His1832=) c.5556C>T (p.His1852=) c.5451C>T (p.His1817=) | |
2 | g.26461718G>C | CA346131292 | OTOF | c.5511C>G (p.His1837Gln) c.3210C>G (p.His1070Gln) c.3270C>G (p.His1090Gln) c.3441C>G (p.His1147Gln) c.5496C>G (p.His1832Gln) c.5556C>G (p.His1852Gln) c.5451C>G (p.His1817Gln) | |
2 | g.26461718G>T | CA346131293 | OTOF | c.5511C>A (p.His1837Gln) c.3210C>A (p.His1070Gln) c.3270C>A (p.His1090Gln) c.3441C>A (p.His1147Gln) c.5496C>A (p.His1832Gln) c.5556C>A (p.His1852Gln) c.5451C>A (p.His1817Gln) | |
2 | g.26461719T>A | CA346131294 | OTOF | c.5510A>T (p.His1837Leu) c.3209A>T (p.His1070Leu) c.3269A>T (p.His1090Leu) c.3440A>T (p.His1147Leu) c.5495A>T (p.His1832Leu) c.5555A>T (p.His1852Leu) c.5450A>T (p.His1817Leu) | |
2 | g.26461719T>C | CA346131295 | OTOF | c.5510A>G (p.His1837Arg) c.3209A>G (p.His1070Arg) c.3269A>G (p.His1090Arg) c.3440A>G (p.His1147Arg) c.5495A>G (p.His1832Arg) c.5555A>G (p.His1852Arg) c.5450A>G (p.His1817Arg) | |
2 | g.26461719T>G | CA346131296 | OTOF | c.5510A>C (p.His1837Pro) c.3209A>C (p.His1070Pro) c.3269A>C (p.His1090Pro) c.3440A>C (p.His1147Pro) c.5495A>C (p.His1832Pro) c.5555A>C (p.His1852Pro) c.5450A>C (p.His1817Pro) | |
2 | g.26461720G>A | CA346131297 | OTOF | c.5509C>T (p.His1837Tyr) c.3208C>T (p.His1070Tyr) c.3268C>T (p.His1090Tyr) c.3439C>T (p.His1147Tyr) c.5494C>T (p.His1832Tyr) c.5554C>T (p.His1852Tyr) c.5449C>T (p.His1817Tyr) | |
2 | g.26461720G>C | CA346131298 | OTOF | c.5509C>G (p.His1837Asp) c.3208C>G (p.His1070Asp) c.3268C>G (p.His1090Asp) c.3439C>G (p.His1147Asp) c.5494C>G (p.His1832Asp) c.5554C>G (p.His1852Asp) c.5449C>G (p.His1817Asp) | |
2 | g.26461720G>T | CA346131299 | OTOF | c.5509C>A (p.His1837Asn) c.3208C>A (p.His1070Asn) c.3268C>A (p.His1090Asn) c.3439C>A (p.His1147Asn) c.5494C>A (p.His1832Asn) c.5554C>A (p.His1852Asn) c.5449C>A (p.His1817Asn) | |
2 | g.26461721G>A | CA425359223 | OTOF | c.5508C>T (p.Asp1836=) c.3207C>T (p.Asp1069=) c.3267C>T (p.Asp1089=) c.3438C>T (p.Asp1146=) c.5493C>T (p.Asp1831=) c.5553C>T (p.Asp1851=) c.5448C>T (p.Asp1816=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.26461721G>C | CA346131300 | OTOF | c.5508C>G (p.Asp1836Glu) c.3207C>G (p.Asp1069Glu) c.3267C>G (p.Asp1089Glu) c.3438C>G (p.Asp1146Glu) c.5493C>G (p.Asp1831Glu) c.5553C>G (p.Asp1851Glu) c.5448C>G (p.Asp1816Glu) | |
2 | g.26461721G= | CA1239825394 | OTOF | c.5508C= (p.Asp1836=) c.3207C= (p.Asp1069=) c.3267C= (p.Asp1089=) c.3438C= (p.Asp1146=) c.5493C= (p.Asp1831=) c.5553C= (p.Asp1851=) c.5448C= (p.Asp1816=) | |
2 | g.26461721G>T | CA346131301 | OTOF | c.5508C>A (p.Asp1836Glu) c.3207C>A (p.Asp1069Glu) c.3267C>A (p.Asp1089Glu) c.3438C>A (p.Asp1146Glu) c.5493C>A (p.Asp1831Glu) c.5553C>A (p.Asp1851Glu) c.5448C>A (p.Asp1816Glu) | |
2 | g.26461722T>A | CA346131302 | OTOF | c.5507A>T (p.Asp1836Val) c.3206A>T (p.Asp1069Val) c.3266A>T (p.Asp1089Val) c.3437A>T (p.Asp1146Val) c.5492A>T (p.Asp1831Val) c.5552A>T (p.Asp1851Val) c.5447A>T (p.Asp1816Val) | |
2 | g.26461722T>C | CA346131304 | OTOF | c.5507A>G (p.Asp1836Gly) c.3206A>G (p.Asp1069Gly) c.3266A>G (p.Asp1089Gly) c.3437A>G (p.Asp1146Gly) c.5492A>G (p.Asp1831Gly) c.5552A>G (p.Asp1851Gly) c.5447A>G (p.Asp1816Gly) | |
2 | g.26461722T>G | CA346131303 | OTOF | c.5507A>C (p.Asp1836Ala) c.3206A>C (p.Asp1069Ala) c.3266A>C (p.Asp1089Ala) c.3437A>C (p.Asp1146Ala) c.5492A>C (p.Asp1831Ala) c.5552A>C (p.Asp1851Ala) c.5447A>C (p.Asp1816Ala) | |
2 | g.26461723C>A | CA346131305 | OTOF | c.5506G>T (p.Asp1836Tyr) c.3205G>T (p.Asp1069Tyr) c.3265G>T (p.Asp1089Tyr) c.3436G>T (p.Asp1146Tyr) c.5491G>T (p.Asp1831Tyr) c.5551G>T (p.Asp1851Tyr) c.5446G>T (p.Asp1816Tyr) | |
2 | g.26461723C>G | CA346131306 | OTOF | c.5506G>C (p.Asp1836His) c.3205G>C (p.Asp1069His) c.3265G>C (p.Asp1089His) c.3436G>C (p.Asp1146His) c.5491G>C (p.Asp1831His) c.5551G>C (p.Asp1851His) c.5446G>C (p.Asp1816His) | |
2 | g.26461723C>T | CA346131307 | OTOF | c.5506G>A (p.Asp1836Asn) c.3205G>A (p.Asp1069Asn) c.3265G>A (p.Asp1089Asn) c.3436G>A (p.Asp1146Asn) c.5491G>A (p.Asp1831Asn) c.5551G>A (p.Asp1851Asn) c.5446G>A (p.Asp1816Asn) | |
2 | g.26461724C>A | CA425359231 | OTOF | c.5505G>T (p.Ala1835=) c.3204G>T (p.Ala1068=) c.3264G>T (p.Ala1088=) c.3435G>T (p.Ala1145=) c.5490G>T (p.Ala1830=) c.5550G>T (p.Ala1850=) c.5445G>T (p.Ala1815=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26461724C= | CA1239825395 | OTOF | c.5505G= (p.Ala1835=) c.3204G= (p.Ala1068=) c.3264G= (p.Ala1088=) c.3435G= (p.Ala1145=) c.5490G= (p.Ala1830=) c.5550G= (p.Ala1850=) c.5445G= (p.Ala1815=) | |
2 | g.26461724C>G | CA425359232 | OTOF | c.5505G>C (p.Ala1835=) c.3204G>C (p.Ala1068=) c.3264G>C (p.Ala1088=) c.3435G>C (p.Ala1145=) c.5490G>C (p.Ala1830=) c.5550G>C (p.Ala1850=) c.5445G>C (p.Ala1815=) | |
2 | g.26461724C>T | CA1562805 | OTOF | c.5505G>A (p.Ala1835=) c.3204G>A (p.Ala1068=) c.3264G>A (p.Ala1088=) c.3435G>A (p.Ala1145=) c.5490G>A (p.Ala1830=) c.5550G>A (p.Ala1850=) c.5445G>A (p.Ala1815=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26461725G>A | CA1562806 | OTOF | c.5504C>T (p.Ala1835Val) c.3203C>T (p.Ala1068Val) c.3263C>T (p.Ala1088Val) c.3434C>T (p.Ala1145Val) c.5489C>T (p.Ala1830Val) c.5549C>T (p.Ala1850Val) c.5444C>T (p.Ala1815Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.26461725G>C | CA346131308 | OTOF | c.5504C>G (p.Ala1835Gly) c.3203C>G (p.Ala1068Gly) c.3263C>G (p.Ala1088Gly) c.3434C>G (p.Ala1145Gly) c.5489C>G (p.Ala1830Gly) c.5549C>G (p.Ala1850Gly) c.5444C>G (p.Ala1815Gly) | |
2 | g.26461725G= | CA1239825396 | OTOF | c.5504C= (p.Ala1835=) c.3203C= (p.Ala1068=) c.3263C= (p.Ala1088=) c.3434C= (p.Ala1145=) c.5489C= (p.Ala1830=) c.5549C= (p.Ala1850=) c.5444C= (p.Ala1815=) | |
2 | g.26461725G>T | CA346131309 | OTOF | c.5504C>A (p.Ala1835Glu) c.3203C>A (p.Ala1068Glu) c.3263C>A (p.Ala1088Glu) c.3434C>A (p.Ala1145Glu) c.5489C>A (p.Ala1830Glu) c.5549C>A (p.Ala1850Glu) c.5444C>A (p.Ala1815Glu) | |
2 | g.26461726del | CA2658232582 | OTOF | c.5503del (p.Ala1835ArgfsTer17) c.3202del (p.Ala1068ArgfsTer17) c.3262del (p.Ala1088ArgfsTer17) c.3433del (p.Ala1145ArgfsTer17) c.5488del (p.Ala1830ArgfsTer17) c.5548del (p.Ala1850ArgfsTer17) c.5443del (p.Ala1815ArgfsTer17) | gnomAD v4 |
2 | g.26461726C>A | CA346131310 | OTOF | c.5503G>T (p.Ala1835Ser) c.3202G>T (p.Ala1068Ser) c.3262G>T (p.Ala1088Ser) c.3433G>T (p.Ala1145Ser) c.5488G>T (p.Ala1830Ser) c.5548G>T (p.Ala1850Ser) c.5443G>T (p.Ala1815Ser) | |
2 | g.26461726C>G | CA346131311 | OTOF | c.5503G>C (p.Ala1835Pro) c.3202G>C (p.Ala1068Pro) c.3262G>C (p.Ala1088Pro) c.3433G>C (p.Ala1145Pro) c.5488G>C (p.Ala1830Pro) c.5548G>C (p.Ala1850Pro) c.5443G>C (p.Ala1815Pro) | |
2 | g.26461726C>T | CA346131312 | OTOF | c.5503G>A (p.Ala1835Thr) c.3202G>A (p.Ala1068Thr) c.3262G>A (p.Ala1088Thr) c.3433G>A (p.Ala1145Thr) c.5488G>A (p.Ala1830Thr) c.5548G>A (p.Ala1850Thr) c.5443G>A (p.Ala1815Thr) | |
2 | g.26461727A= | CA1239825397 | OTOF | c.5502T= (p.Asp1834=) c.3201T= (p.Asp1067=) c.3261T= (p.Asp1087=) c.3432T= (p.Asp1144=) c.5487T= (p.Asp1829=) c.5547T= (p.Asp1849=) c.5442T= (p.Asp1814=) | |
2 | g.26461727A>C | CA346131314 | OTOF | c.5502T>G (p.Asp1834Glu) c.3201T>G (p.Asp1067Glu) c.3261T>G (p.Asp1087Glu) c.3432T>G (p.Asp1144Glu) c.5487T>G (p.Asp1829Glu) c.5547T>G (p.Asp1849Glu) c.5442T>G (p.Asp1814Glu) | |
2 | g.26461727A>G | CA44409066 | OTOF | c.5502T>C (p.Asp1834=) c.3201T>C (p.Asp1067=) c.3261T>C (p.Asp1087=) c.3432T>C (p.Asp1144=) c.5487T>C (p.Asp1829=) c.5547T>C (p.Asp1849=) c.5442T>C (p.Asp1814=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.26461727A>T | CA346131313 | OTOF | c.5502T>A (p.Asp1834Glu) c.3201T>A (p.Asp1067Glu) c.3261T>A (p.Asp1087Glu) c.3432T>A (p.Asp1144Glu) c.5487T>A (p.Asp1829Glu) c.5547T>A (p.Asp1849Glu) c.5442T>A (p.Asp1814Glu) | |
2 | g.26461728T>A | CA346131317 | OTOF | c.5501A>T (p.Asp1834Val) c.3200A>T (p.Asp1067Val) c.3260A>T (p.Asp1087Val) c.3431A>T (p.Asp1144Val) c.5486A>T (p.Asp1829Val) c.5546A>T (p.Asp1849Val) c.5441A>T (p.Asp1814Val) | |
2 | g.26461728T>C | CA346131315 | OTOF | c.5501A>G (p.Asp1834Gly) c.3200A>G (p.Asp1067Gly) c.3260A>G (p.Asp1087Gly) c.3431A>G (p.Asp1144Gly) c.5486A>G (p.Asp1829Gly) c.5546A>G (p.Asp1849Gly) c.5441A>G (p.Asp1814Gly) | |
2 | g.26461728T>G | CA346131316 | OTOF | c.5501A>C (p.Asp1834Ala) c.3200A>C (p.Asp1067Ala) c.3260A>C (p.Asp1087Ala) c.3431A>C (p.Asp1144Ala) c.5486A>C (p.Asp1829Ala) c.5546A>C (p.Asp1849Ala) c.5441A>C (p.Asp1814Ala) | |
2 | g.26461729C>A | CA346131318 | OTOF | c.5500G>T (p.Asp1834Tyr) c.3199G>T (p.Asp1067Tyr) c.3259G>T (p.Asp1087Tyr) c.3430G>T (p.Asp1144Tyr) c.5485G>T (p.Asp1829Tyr) c.5545G>T (p.Asp1849Tyr) c.5440G>T (p.Asp1814Tyr) | |
2 | g.26461729C>G | CA346131319 | OTOF | c.5500G>C (p.Asp1834His) c.3199G>C (p.Asp1067His) c.3259G>C (p.Asp1087His) c.3430G>C (p.Asp1144His) c.5485G>C (p.Asp1829His) c.5545G>C (p.Asp1849His) c.5440G>C (p.Asp1814His) | |
2 | g.26461729C>T | CA346131320 | OTOF | c.5500G>A (p.Asp1834Asn) c.3199G>A (p.Asp1067Asn) c.3259G>A (p.Asp1087Asn) c.3430G>A (p.Asp1144Asn) c.5485G>A (p.Asp1829Asn) c.5545G>A (p.Asp1849Asn) c.5440G>A (p.Asp1814Asn) | gnomAD v4 |
2 | g.26461731del | CA2586968799 | OTOF | c.5500del (p.Asp1834MetfsTer18) c.3199del (p.Asp1067MetfsTer18) c.3259del (p.Asp1087MetfsTer18) c.3430del (p.Asp1144MetfsTer18) c.5485del (p.Asp1829MetfsTer18) c.5545del (p.Asp1849MetfsTer18) c.5440del (p.Asp1814MetfsTer18) | |
2 | g.26461730C>A | CA346131321 | OTOF | c.5499G>T (p.Trp1833Cys) c.3198G>T (p.Trp1066Cys) c.3258G>T (p.Trp1086Cys) c.3429G>T (p.Trp1143Cys) c.5484G>T (p.Trp1828Cys) c.5544G>T (p.Trp1848Cys) c.5439G>T (p.Trp1813Cys) | COSMIC COSMIC COSMIC |
2 | g.26461730C>G | CA346131322 | OTOF | c.5499G>C (p.Trp1833Cys) c.3198G>C (p.Trp1066Cys) c.3258G>C (p.Trp1086Cys) c.3429G>C (p.Trp1143Cys) c.5484G>C (p.Trp1828Cys) c.5544G>C (p.Trp1848Cys) c.5439G>C (p.Trp1813Cys) | |
2 | g.26461730C>T | CA346131323 | OTOF | c.5499G>A (p.Trp1833Ter) c.3198G>A (p.Trp1066Ter) c.3258G>A (p.Trp1086Ter) c.3429G>A (p.Trp1143Ter) c.5484G>A (p.Trp1828Ter) c.5544G>A (p.Trp1848Ter) c.5439G>A (p.Trp1813Ter) | gnomAD v4 |
2 | g.26461731C>A | CA346131324 | OTOF | c.5498G>T (p.Trp1833Leu) c.3197G>T (p.Trp1066Leu) c.3257G>T (p.Trp1086Leu) c.3428G>T (p.Trp1143Leu) c.5483G>T (p.Trp1828Leu) c.5543G>T (p.Trp1848Leu) c.5438G>T (p.Trp1813Leu) | COSMIC COSMIC COSMIC |
2 | g.26461731C>G | CA346131325 | OTOF | c.5498G>C (p.Trp1833Ser) c.3197G>C (p.Trp1066Ser) c.3257G>C (p.Trp1086Ser) c.3428G>C (p.Trp1143Ser) c.5483G>C (p.Trp1828Ser) c.5543G>C (p.Trp1848Ser) c.5438G>C (p.Trp1813Ser) | |
2 | g.26461731C>T | CA346131326 | OTOF | c.5498G>A (p.Trp1833Ter) c.3197G>A (p.Trp1066Ter) c.3257G>A (p.Trp1086Ter) c.3428G>A (p.Trp1143Ter) c.5483G>A (p.Trp1828Ter) c.5543G>A (p.Trp1848Ter) c.5438G>A (p.Trp1813Ter) | |
2 | g.26461732A>C | CA346131327 | OTOF | c.5497T>G (p.Trp1833Gly) c.3196T>G (p.Trp1066Gly) c.3256T>G (p.Trp1086Gly) c.3427T>G (p.Trp1143Gly) c.5482T>G (p.Trp1828Gly) c.5542T>G (p.Trp1848Gly) c.5437T>G (p.Trp1813Gly) | |
2 | g.26461732A>G | CA346131328 | OTOF | c.5497T>C (p.Trp1833Arg) c.3196T>C (p.Trp1066Arg) c.3256T>C (p.Trp1086Arg) c.3427T>C (p.Trp1143Arg) c.5482T>C (p.Trp1828Arg) c.5542T>C (p.Trp1848Arg) c.5437T>C (p.Trp1813Arg) | gnomAD v4 |
2 | g.26461732A>T | CA346131329 | OTOF | c.5497T>A (p.Trp1833Arg) c.3196T>A (p.Trp1066Arg) c.3256T>A (p.Trp1086Arg) c.3427T>A (p.Trp1143Arg) c.5482T>A (p.Trp1828Arg) c.5542T>A (p.Trp1848Arg) c.5437T>A (p.Trp1813Arg) | |
2 | g.26461733G>A | CA425359249 | OTOF | c.5496C>T (p.Ile1832=) c.3195C>T (p.Ile1065=) c.3255C>T (p.Ile1085=) c.3426C>T (p.Ile1142=) c.5481C>T (p.Ile1827=) c.5541C>T (p.Ile1847=) c.5436C>T (p.Ile1812=) | dbSNP |
2 | g.26461733G>C | CA346131330 | OTOF | c.5496C>G (p.Ile1832Met) c.3195C>G (p.Ile1065Met) c.3255C>G (p.Ile1085Met) c.3426C>G (p.Ile1142Met) c.5481C>G (p.Ile1827Met) c.5541C>G (p.Ile1847Met) c.5436C>G (p.Ile1812Met) | |
2 | g.26461733G= | CA1239825398 | OTOF | c.5496C= (p.Ile1832=) c.3195C= (p.Ile1065=) c.3255C= (p.Ile1085=) c.3426C= (p.Ile1142=) c.5481C= (p.Ile1827=) c.5541C= (p.Ile1847=) c.5436C= (p.Ile1812=) | |
2 | g.26461733G>T | CA425359253 | OTOF | c.5496C>A (p.Ile1832=) c.3195C>A (p.Ile1065=) c.3255C>A (p.Ile1085=) c.3426C>A (p.Ile1142=) c.5481C>A (p.Ile1827=) c.5541C>A (p.Ile1847=) c.5436C>A (p.Ile1812=) | |
2 | g.26461734A>C | CA346131331 | OTOF | c.5495T>G (p.Ile1832Ser) c.3194T>G (p.Ile1065Ser) c.3254T>G (p.Ile1085Ser) c.3425T>G (p.Ile1142Ser) c.5480T>G (p.Ile1827Ser) c.5540T>G (p.Ile1847Ser) c.5435T>G (p.Ile1812Ser) | |
2 | g.26461734A>G | CA346131332 | OTOF | c.5495T>C (p.Ile1832Thr) c.3194T>C (p.Ile1065Thr) c.3254T>C (p.Ile1085Thr) c.3425T>C (p.Ile1142Thr) c.5480T>C (p.Ile1827Thr) c.5540T>C (p.Ile1847Thr) c.5435T>C (p.Ile1812Thr) | gnomAD v4 |
2 | g.26461734A>T | CA346131333 | OTOF | c.5495T>A (p.Ile1832Asn) c.3194T>A (p.Ile1065Asn) c.3254T>A (p.Ile1085Asn) c.3425T>A (p.Ile1142Asn) c.5480T>A (p.Ile1827Asn) c.5540T>A (p.Ile1847Asn) c.5435T>A (p.Ile1812Asn) | |
2 | g.26461735T>A | CA346131334 | OTOF | c.5494A>T (p.Ile1832Phe) c.3193A>T (p.Ile1065Phe) c.3253A>T (p.Ile1085Phe) c.3424A>T (p.Ile1142Phe) c.5479A>T (p.Ile1827Phe) c.5539A>T (p.Ile1847Phe) c.5434A>T (p.Ile1812Phe) | |
2 | g.26461735T>C | CA346131335 | OTOF | c.5494A>G (p.Ile1832Val) c.3193A>G (p.Ile1065Val) c.3253A>G (p.Ile1085Val) c.3424A>G (p.Ile1142Val) c.5479A>G (p.Ile1827Val) c.5539A>G (p.Ile1847Val) c.5434A>G (p.Ile1812Val) | gnomAD v4 |
2 | g.26461735T>G | CA346131336 | OTOF | c.5494A>C (p.Ile1832Leu) c.3193A>C (p.Ile1065Leu) c.3253A>C (p.Ile1085Leu) c.3424A>C (p.Ile1142Leu) c.5479A>C (p.Ile1827Leu) c.5539A>C (p.Ile1847Leu) c.5434A>C (p.Ile1812Leu) | |
2 | g.26461736C>A | CA346131337 | OTOF | c.5493G>T (p.Gln1831His) c.3192G>T (p.Gln1064His) c.3252G>T (p.Gln1084His) c.3423G>T (p.Gln1141His) c.5478G>T (p.Gln1826His) c.5538G>T (p.Gln1846His) c.5433G>T (p.Gln1811His) | |
2 | g.26461736C= | CA1239825399 | OTOF | c.5493G= (p.Gln1831=) c.3192G= (p.Gln1064=) c.3252G= (p.Gln1084=) c.3423G= (p.Gln1141=) c.5478G= (p.Gln1826=) c.5538G= (p.Gln1846=) c.5433G= (p.Gln1811=) | |
2 | g.26461736C>G | CA346131338 | OTOF | c.5493G>C (p.Gln1831His) c.3192G>C (p.Gln1064His) c.3252G>C (p.Gln1084His) c.3423G>C (p.Gln1141His) c.5478G>C (p.Gln1826His) c.5538G>C (p.Gln1846His) c.5433G>C (p.Gln1811His) | |
2 | g.26461736C>T | CA425359255 | OTOF | c.5493G>A (p.Gln1831=) c.3192G>A (p.Gln1064=) c.3252G>A (p.Gln1084=) c.3423G>A (p.Gln1141=) c.5478G>A (p.Gln1826=) c.5538G>A (p.Gln1846=) c.5433G>A (p.Gln1811=) | dbSNP gnomAD v2 |
2 | g.26461736dup | CA2840398335 | OTOF | c.5493dup (p.Ile1832AspfsTer10) c.3192dup (p.Ile1065AspfsTer10) c.3252dup (p.Ile1085AspfsTer10) c.3423dup (p.Ile1142AspfsTer10) c.5478dup (p.Ile1827AspfsTer10) c.5538dup (p.Ile1847AspfsTer10) c.5433dup (p.Ile1812AspfsTer10) | |
2 | g.26461737T>A | CA346131339 | OTOF | c.5492A>T (p.Gln1831Leu) c.3191A>T (p.Gln1064Leu) c.3251A>T (p.Gln1084Leu) c.3422A>T (p.Gln1141Leu) c.5477A>T (p.Gln1826Leu) c.5537A>T (p.Gln1846Leu) c.5432A>T (p.Gln1811Leu) | |
2 | g.26461737T>C | CA346131340 | OTOF | c.5492A>G (p.Gln1831Arg) c.3191A>G (p.Gln1064Arg) c.3251A>G (p.Gln1084Arg) c.3422A>G (p.Gln1141Arg) c.5477A>G (p.Gln1826Arg) c.5537A>G (p.Gln1846Arg) c.5432A>G (p.Gln1811Arg) | |
2 | g.26461737T>G | CA346131341 | OTOF | c.5492A>C (p.Gln1831Pro) c.3191A>C (p.Gln1064Pro) c.3251A>C (p.Gln1084Pro) c.3422A>C (p.Gln1141Pro) c.5477A>C (p.Gln1826Pro) c.5537A>C (p.Gln1846Pro) c.5432A>C (p.Gln1811Pro) | |
2 | g.26461738G>A | CA346131342 | OTOF | c.5491C>T (p.Gln1831Ter) c.3190C>T (p.Gln1064Ter) c.3250C>T (p.Gln1084Ter) c.3421C>T (p.Gln1141Ter) c.5476C>T (p.Gln1826Ter) c.5536C>T (p.Gln1846Ter) c.5431C>T (p.Gln1811Ter) | |
2 | g.26461738G>C | CA346131343 | OTOF | c.5491C>G (p.Gln1831Glu) c.3190C>G (p.Gln1064Glu) c.3250C>G (p.Gln1084Glu) c.3421C>G (p.Gln1141Glu) c.5476C>G (p.Gln1826Glu) c.5536C>G (p.Gln1846Glu) c.5431C>G (p.Gln1811Glu) | |
2 | g.26461738G>T | CA346131344 | OTOF | c.5491C>A (p.Gln1831Lys) c.3190C>A (p.Gln1064Lys) c.3250C>A (p.Gln1084Lys) c.3421C>A (p.Gln1141Lys) c.5476C>A (p.Gln1826Lys) c.5536C>A (p.Gln1846Lys) c.5431C>A (p.Gln1811Lys) | |
2 | g.26461739C>A | CA425359260 | OTOF | c.5490G>T (p.Leu1830=) c.3189G>T (p.Leu1063=) c.3249G>T (p.Leu1083=) c.3420G>T (p.Leu1140=) c.5475G>T (p.Leu1825=) c.5535G>T (p.Leu1845=) c.5430G>T (p.Leu1810=) | |
2 | g.26461739C>G | CA425359261 | OTOF | c.5490G>C (p.Leu1830=) c.3189G>C (p.Leu1063=) c.3249G>C (p.Leu1083=) c.3420G>C (p.Leu1140=) c.5475G>C (p.Leu1825=) c.5535G>C (p.Leu1845=) c.5430G>C (p.Leu1810=) | |
2 | g.26461739C>T | CA425359262 | OTOF | c.5490G>A (p.Leu1830=) c.3189G>A (p.Leu1063=) c.3249G>A (p.Leu1083=) c.3420G>A (p.Leu1140=) c.5475G>A (p.Leu1825=) c.5535G>A (p.Leu1845=) c.5430G>A (p.Leu1810=) | |
2 | g.26461740A>C | CA346131346 | OTOF | c.5489T>G (p.Leu1830Arg) c.3188T>G (p.Leu1063Arg) c.3248T>G (p.Leu1083Arg) c.3419T>G (p.Leu1140Arg) c.5474T>G (p.Leu1825Arg) c.5534T>G (p.Leu1845Arg) c.5429T>G (p.Leu1810Arg) | |
2 | g.26461740A>G | CA346131347 | OTOF | c.5489T>C (p.Leu1830Pro) c.3188T>C (p.Leu1063Pro) c.3248T>C (p.Leu1083Pro) c.3419T>C (p.Leu1140Pro) c.5474T>C (p.Leu1825Pro) c.5534T>C (p.Leu1845Pro) c.5429T>C (p.Leu1810Pro) | |
2 | g.26461740A>T | CA346131345 | OTOF | c.5489T>A (p.Leu1830Gln) c.3188T>A (p.Leu1063Gln) c.3248T>A (p.Leu1083Gln) c.3419T>A (p.Leu1140Gln) c.5474T>A (p.Leu1825Gln) c.5534T>A (p.Leu1845Gln) c.5429T>A (p.Leu1810Gln) | |
2 | g.26461741G>A | CA425359266 | OTOF | c.5488C>T (p.Leu1830=) c.3187C>T (p.Leu1063=) c.3247C>T (p.Leu1083=) c.3418C>T (p.Leu1140=) c.5473C>T (p.Leu1825=) c.5533C>T (p.Leu1845=) c.5428C>T (p.Leu1810=) | |
2 | g.26461741G>C | CA346131348 | OTOF | c.5488C>G (p.Leu1830Val) c.3187C>G (p.Leu1063Val) c.3247C>G (p.Leu1083Val) c.3418C>G (p.Leu1140Val) c.5473C>G (p.Leu1825Val) c.5533C>G (p.Leu1845Val) c.5428C>G (p.Leu1810Val) | |
2 | g.26461741G>T | CA346131349 | OTOF | c.5488C>A (p.Leu1830Met) c.3187C>A (p.Leu1063Met) c.3247C>A (p.Leu1083Met) c.3418C>A (p.Leu1140Met) c.5473C>A (p.Leu1825Met) c.5533C>A (p.Leu1845Met) c.5428C>A (p.Leu1810Met) | COSMIC COSMIC |
2 | g.26461742G>A | CA1562807 | OTOF | c.5487C>T (p.Thr1829=) c.3186C>T (p.Thr1062=) c.3246C>T (p.Thr1082=) c.3417C>T (p.Thr1139=) c.5472C>T (p.Thr1824=) c.5532C>T (p.Thr1844=) c.5427C>T (p.Thr1809=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26461742G>C | CA425359267 | OTOF | c.5487C>G (p.Thr1829=) c.3186C>G (p.Thr1062=) c.3246C>G (p.Thr1082=) c.3417C>G (p.Thr1139=) c.5472C>G (p.Thr1824=) c.5532C>G (p.Thr1844=) c.5427C>G (p.Thr1809=) | |
2 | g.26461742G= | CA1239825400 | OTOF | c.5487C= (p.Thr1829=) c.3186C= (p.Thr1062=) c.3246C= (p.Thr1082=) c.3417C= (p.Thr1139=) c.5472C= (p.Thr1824=) c.5532C= (p.Thr1844=) c.5427C= (p.Thr1809=) | |
2 | g.26461742G>T | CA425359268 | OTOF | c.5487C>A (p.Thr1829=) c.3186C>A (p.Thr1062=) c.3246C>A (p.Thr1082=) c.3417C>A (p.Thr1139=) c.5472C>A (p.Thr1824=) c.5532C>A (p.Thr1844=) c.5427C>A (p.Thr1809=) | |
2 | g.26461743G>A | CA346131350 | OTOF | c.5486C>T (p.Thr1829Ile) c.3185C>T (p.Thr1062Ile) c.3245C>T (p.Thr1082Ile) c.3416C>T (p.Thr1139Ile) c.5471C>T (p.Thr1824Ile) c.5531C>T (p.Thr1844Ile) c.5426C>T (p.Thr1809Ile) | dbSNP |
2 | g.26461743G>C | CA346131351 | OTOF | c.5486C>G (p.Thr1829Ser) c.3185C>G (p.Thr1062Ser) c.3245C>G (p.Thr1082Ser) c.3416C>G (p.Thr1139Ser) c.5471C>G (p.Thr1824Ser) c.5531C>G (p.Thr1844Ser) c.5426C>G (p.Thr1809Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26461743G= | CA1239825401 | OTOF | c.5486C= (p.Thr1829=) c.3185C= (p.Thr1062=) c.3245C= (p.Thr1082=) c.3416C= (p.Thr1139=) c.5471C= (p.Thr1824=) c.5531C= (p.Thr1844=) c.5426C= (p.Thr1809=) | |
2 | g.26461743G>T | CA346131352 | OTOF | c.5486C>A (p.Thr1829Asn) c.3185C>A (p.Thr1062Asn) c.3245C>A (p.Thr1082Asn) c.3416C>A (p.Thr1139Asn) c.5471C>A (p.Thr1824Asn) c.5531C>A (p.Thr1844Asn) c.5426C>A (p.Thr1809Asn) | gnomAD v4 |
2 | g.26461744T>A | CA346131353 | OTOF | c.5485A>T (p.Thr1829Ser) c.3184A>T (p.Thr1062Ser) c.3244A>T (p.Thr1082Ser) c.3415A>T (p.Thr1139Ser) c.5470A>T (p.Thr1824Ser) c.5530A>T (p.Thr1844Ser) c.5425A>T (p.Thr1809Ser) | |
2 | g.26461744T>C | CA346131354 | OTOF | c.5485A>G (p.Thr1829Ala) c.3184A>G (p.Thr1062Ala) c.3244A>G (p.Thr1082Ala) c.3415A>G (p.Thr1139Ala) c.5470A>G (p.Thr1824Ala) c.5530A>G (p.Thr1844Ala) c.5425A>G (p.Thr1809Ala) | dbSNP |
2 | g.26461744T>G | CA346131355 | OTOF | c.5485A>C (p.Thr1829Pro) c.3184A>C (p.Thr1062Pro) c.3244A>C (p.Thr1082Pro) c.3415A>C (p.Thr1139Pro) c.5470A>C (p.Thr1824Pro) c.5530A>C (p.Thr1844Pro) c.5425A>C (p.Thr1809Pro) | |
2 | g.26461744T= | CA1239825402 | OTOF | c.5485A= (p.Thr1829=) c.3184A= (p.Thr1062=) c.3244A= (p.Thr1082=) c.3415A= (p.Thr1139=) c.5470A= (p.Thr1824=) c.5530A= (p.Thr1844=) c.5425A= (p.Thr1809=) | |
2 | g.26461745G>A | CA1562808 | OTOF | c.5484C>T (p.Leu1828=) c.3183C>T (p.Leu1061=) c.3243C>T (p.Leu1081=) c.3414C>T (p.Leu1138=) c.5469C>T (p.Leu1823=) c.5529C>T (p.Leu1843=) c.5424C>T (p.Leu1808=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26461745G>C | CA425359280 | OTOF | c.5484C>G (p.Leu1828=) c.3183C>G (p.Leu1061=) c.3243C>G (p.Leu1081=) c.3414C>G (p.Leu1138=) c.5469C>G (p.Leu1823=) c.5529C>G (p.Leu1843=) c.5424C>G (p.Leu1808=) | COSMIC COSMIC COSMIC |
2 | g.26461745G= | CA1239825403 | OTOF | c.5484C= (p.Leu1828=) c.3183C= (p.Leu1061=) c.3243C= (p.Leu1081=) c.3414C= (p.Leu1138=) c.5469C= (p.Leu1823=) c.5529C= (p.Leu1843=) c.5424C= (p.Leu1808=) | |
2 | g.26461745G>T | CA425359282 | OTOF | c.5484C>A (p.Leu1828=) c.3183C>A (p.Leu1061=) c.3243C>A (p.Leu1081=) c.3414C>A (p.Leu1138=) c.5469C>A (p.Leu1823=) c.5529C>A (p.Leu1843=) c.5424C>A (p.Leu1808=) | |
2 | g.26461746A>C | CA346131356 | OTOF | c.5483T>G (p.Leu1828Arg) c.3182T>G (p.Leu1061Arg) c.3242T>G (p.Leu1081Arg) c.3413T>G (p.Leu1138Arg) c.5468T>G (p.Leu1823Arg) c.5528T>G (p.Leu1843Arg) c.5423T>G (p.Leu1808Arg) | |
2 | g.26461746A>G | CA346131357 | OTOF | c.5483T>C (p.Leu1828Pro) c.3182T>C (p.Leu1061Pro) c.3242T>C (p.Leu1081Pro) c.3413T>C (p.Leu1138Pro) c.5468T>C (p.Leu1823Pro) c.5528T>C (p.Leu1843Pro) c.5423T>C (p.Leu1808Pro) | |
2 | g.26461746A>T | CA346131358 | OTOF | c.5483T>A (p.Leu1828His) c.3182T>A (p.Leu1061His) c.3242T>A (p.Leu1081His) c.3413T>A (p.Leu1138His) c.5468T>A (p.Leu1823His) c.5528T>A (p.Leu1843His) c.5423T>A (p.Leu1808His) | |
2 | g.26461747G>A | CA346131359 | OTOF | c.5482C>T (p.Leu1828Phe) c.3181C>T (p.Leu1061Phe) c.3241C>T (p.Leu1081Phe) c.3412C>T (p.Leu1138Phe) c.5467C>T (p.Leu1823Phe) c.5527C>T (p.Leu1843Phe) c.5422C>T (p.Leu1808Phe) | |
2 | g.26461747G>C | CA346131360 | OTOF | c.5482C>G (p.Leu1828Val) c.3181C>G (p.Leu1061Val) c.3241C>G (p.Leu1081Val) c.3412C>G (p.Leu1138Val) c.5467C>G (p.Leu1823Val) c.5527C>G (p.Leu1843Val) c.5422C>G (p.Leu1808Val) | |
2 | g.26461747G>T | CA346131361 | OTOF | c.5482C>A (p.Leu1828Ile) c.3181C>A (p.Leu1061Ile) c.3241C>A (p.Leu1081Ile) c.3412C>A (p.Leu1138Ile) c.5467C>A (p.Leu1823Ile) c.5527C>A (p.Leu1843Ile) c.5422C>A (p.Leu1808Ile) | |
2 | g.26461748C>A | CA425359286 | OTOF | c.5481G>T (p.Arg1827=) c.3180G>T (p.Arg1060=) c.3240G>T (p.Arg1080=) c.3411G>T (p.Arg1137=) c.5466G>T (p.Arg1822=) c.5526G>T (p.Arg1842=) c.5421G>T (p.Arg1807=) | |
2 | g.26461748C>G | CA425359287 | OTOF | c.5481G>C (p.Arg1827=) c.3180G>C (p.Arg1060=) c.3240G>C (p.Arg1080=) c.3411G>C (p.Arg1137=) c.5466G>C (p.Arg1822=) c.5526G>C (p.Arg1842=) c.5421G>C (p.Arg1807=) | |
2 | g.26461748C>T | CA425359288 | OTOF | c.5481G>A (p.Arg1827=) c.3180G>A (p.Arg1060=) c.3240G>A (p.Arg1080=) c.3411G>A (p.Arg1137=) c.5466G>A (p.Arg1822=) c.5526G>A (p.Arg1842=) c.5421G>A (p.Arg1807=) | gnomAD v4 COSMIC COSMIC COSMIC |
2 | g.26461749C>A | CA346131362 | OTOF | c.5480G>T (p.Arg1827Leu) c.3179G>T (p.Arg1060Leu) c.3239G>T (p.Arg1080Leu) c.3410G>T (p.Arg1137Leu) c.5465G>T (p.Arg1822Leu) c.5525G>T (p.Arg1842Leu) c.5420G>T (p.Arg1807Leu) | |
2 | g.26461749C= | CA1239825404 | OTOF | c.5480G= (p.Arg1827=) c.3179G= (p.Arg1060=) c.3239G= (p.Arg1080=) c.3410G= (p.Arg1137=) c.5465G= (p.Arg1822=) c.5525G= (p.Arg1842=) c.5420G= (p.Arg1807=) | |
2 | g.26461749C>G | CA346131363 | OTOF | c.5480G>C (p.Arg1827Pro) c.3179G>C (p.Arg1060Pro) c.3239G>C (p.Arg1080Pro) c.3410G>C (p.Arg1137Pro) c.5465G>C (p.Arg1822Pro) c.5525G>C (p.Arg1842Pro) c.5420G>C (p.Arg1807Pro) | |
2 | g.26461749C>T | CA1562809 | OTOF | c.5480G>A (p.Arg1827Gln) c.3179G>A (p.Arg1060Gln) c.3239G>A (p.Arg1080Gln) c.3410G>A (p.Arg1137Gln) c.5465G>A (p.Arg1822Gln) c.5525G>A (p.Arg1842Gln) c.5420G>A (p.Arg1807Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26461750G>A | CA1562811 | OTOF | c.5479C>T (p.Arg1827Trp) c.3178C>T (p.Arg1060Trp) c.3238C>T (p.Arg1080Trp) c.3409C>T (p.Arg1137Trp) c.5464C>T (p.Arg1822Trp) c.5524C>T (p.Arg1842Trp) c.5419C>T (p.Arg1807Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26461750G>C | CA346131364 | OTOF | c.5479C>G (p.Arg1827Gly) c.3178C>G (p.Arg1060Gly) c.3238C>G (p.Arg1080Gly) c.3409C>G (p.Arg1137Gly) c.5464C>G (p.Arg1822Gly) c.5524C>G (p.Arg1842Gly) c.5419C>G (p.Arg1807Gly) | |
2 | g.26461750G= | CA1239825405 | OTOF | c.5479C= (p.Arg1827=) c.3178C= (p.Arg1060=) c.3238C= (p.Arg1080=) c.3409C= (p.Arg1137=) c.5464C= (p.Arg1822=) c.5524C= (p.Arg1842=) c.5419C= (p.Arg1807=) | |
2 | g.26461750G>T | CA1562810 | OTOF | c.5479C>A (p.Arg1827=) c.3178C>A (p.Arg1060=) c.3238C>A (p.Arg1080=) c.3409C>A (p.Arg1137=) c.5464C>A (p.Arg1822=) c.5524C>A (p.Arg1842=) c.5419C>A (p.Arg1807=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26461751C>A | CA425359294 | OTOF | c.5478G>T (p.Ala1826=) c.3177G>T (p.Ala1059=) c.3237G>T (p.Ala1079=) c.3408G>T (p.Ala1136=) c.5463G>T (p.Ala1821=) c.5523G>T (p.Ala1841=) c.5418G>T (p.Ala1806=) | |
2 | g.26461751C= | CA1239825407 | OTOF | c.5478G= (p.Ala1826=) c.3177G= (p.Ala1059=) c.3237G= (p.Ala1079=) c.3408G= (p.Ala1136=) c.5463G= (p.Ala1821=) c.5523G= (p.Ala1841=) c.5418G= (p.Ala1806=) | |
2 | g.26461751C>G | CA425359293 | OTOF | c.5478G>C (p.Ala1826=) c.3177G>C (p.Ala1059=) c.3237G>C (p.Ala1079=) c.3408G>C (p.Ala1136=) c.5463G>C (p.Ala1821=) c.5523G>C (p.Ala1841=) c.5418G>C (p.Ala1806=) | |
2 | g.26461751C>T | CA425359292 | OTOF | c.5478G>A (p.Ala1826=) c.3177G>A (p.Ala1059=) c.3237G>A (p.Ala1079=) c.3408G>A (p.Ala1136=) c.5463G>A (p.Ala1821=) c.5523G>A (p.Ala1841=) c.5418G>A (p.Ala1806=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
2 | g.26461751_26461752delinsCG | CA1239825406 | OTOF | c.5477_5478delinsCG (p.Ala1826=) c.3176_3177delinsCG (p.Ala1059=) c.3236_3237delinsCG (p.Ala1079=) c.3407_3408delinsCG (p.Ala1136=) c.5462_5463delinsCG (p.Ala1821=) c.5522_5523delinsCG (p.Ala1841=) c.5417_5418delinsCG (p.Ala1806=) | |
2 | g.26461751_26461753del | CA2840398336 | OTOF | c.5476_5478del (p.Ala1826del) c.3175_3177del (p.Ala1059del) c.3235_3237del (p.Ala1079del) c.3406_3408del (p.Ala1136del) c.5461_5463del (p.Ala1821del) c.5521_5523del (p.Ala1841del) c.5416_5418del (p.Ala1806del) | |
2 | g.26461752del | CA1239825408 | OTOF | c.5477del (p.Ala1826GlyfsTer26) c.3176del (p.Ala1059GlyfsTer26) c.3236del (p.Ala1079GlyfsTer26) c.3407del (p.Ala1136GlyfsTer26) c.5462del (p.Ala1821GlyfsTer26) c.5522del (p.Ala1841GlyfsTer26) c.5417del (p.Ala1806GlyfsTer26) | dbSNP |
2 | g.26461752G>A | CA1562812 | OTOF | c.5477C>T (p.Ala1826Val) c.3176C>T (p.Ala1059Val) c.3236C>T (p.Ala1079Val) c.3407C>T (p.Ala1136Val) c.5462C>T (p.Ala1821Val) c.5522C>T (p.Ala1841Val) c.5417C>T (p.Ala1806Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26461752G>C | CA346131365 | OTOF | c.5477C>G (p.Ala1826Gly) c.3176C>G (p.Ala1059Gly) c.3236C>G (p.Ala1079Gly) c.3407C>G (p.Ala1136Gly) c.5462C>G (p.Ala1821Gly) c.5522C>G (p.Ala1841Gly) c.5417C>G (p.Ala1806Gly) | |
2 | g.26461752G= | CA1239825409 | OTOF | c.5477C= (p.Ala1826=) c.3176C= (p.Ala1059=) c.3236C= (p.Ala1079=) c.3407C= (p.Ala1136=) c.5462C= (p.Ala1821=) c.5522C= (p.Ala1841=) c.5417C= (p.Ala1806=) | |
2 | g.26461752G>T | CA346131366 | OTOF | c.5477C>A (p.Ala1826Glu) c.3176C>A (p.Ala1059Glu) c.3236C>A (p.Ala1079Glu) c.3407C>A (p.Ala1136Glu) c.5462C>A (p.Ala1821Glu) c.5522C>A (p.Ala1841Glu) c.5417C>A (p.Ala1806Glu) | |
2 | g.26461753C>A | CA346131367 | OTOF | c.5476G>T (p.Ala1826Ser) c.3175G>T (p.Ala1059Ser) c.3235G>T (p.Ala1079Ser) c.3406G>T (p.Ala1136Ser) c.5461G>T (p.Ala1821Ser) c.5521G>T (p.Ala1841Ser) c.5416G>T (p.Ala1806Ser) | dbSNP gnomAD v4 |
2 | g.26461753C= | CA1239825410 | OTOF | c.5476G= (p.Ala1826=) c.3175G= (p.Ala1059=) c.3235G= (p.Ala1079=) c.3406G= (p.Ala1136=) c.5461G= (p.Ala1821=) c.5521G= (p.Ala1841=) c.5416G= (p.Ala1806=) | |
2 | g.26461753C>G | CA346131368 | OTOF | c.5476G>C (p.Ala1826Pro) c.3175G>C (p.Ala1059Pro) c.3235G>C (p.Ala1079Pro) c.3406G>C (p.Ala1136Pro) c.5461G>C (p.Ala1821Pro) c.5521G>C (p.Ala1841Pro) c.5416G>C (p.Ala1806Pro) | |
2 | g.26461753C>T | CA1562813 | OTOF | c.5476G>A (p.Ala1826Thr) c.3175G>A (p.Ala1059Thr) c.3235G>A (p.Ala1079Thr) c.3406G>A (p.Ala1136Thr) c.5461G>A (p.Ala1821Thr) c.5521G>A (p.Ala1841Thr) c.5416G>A (p.Ala1806Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
2 | g.26461754G>A | CA425359300 | OTOF | c.5475C>T (p.Pro1825=) c.3174C>T (p.Pro1058=) c.3234C>T (p.Pro1078=) c.3405C>T (p.Pro1135=) c.5460C>T (p.Pro1820=) c.5520C>T (p.Pro1840=) c.5415C>T (p.Pro1805=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26461754G>C | CA425359298 | OTOF | c.5475C>G (p.Pro1825=) c.3174C>G (p.Pro1058=) c.3234C>G (p.Pro1078=) c.3405C>G (p.Pro1135=) c.5460C>G (p.Pro1820=) c.5520C>G (p.Pro1840=) c.5415C>G (p.Pro1805=) | gnomAD v4 |
2 | g.26461754G= | CA1239825411 | OTOF | c.5475C= (p.Pro1825=) c.3174C= (p.Pro1058=) c.3234C= (p.Pro1078=) c.3405C= (p.Pro1135=) c.5460C= (p.Pro1820=) c.5520C= (p.Pro1840=) c.5415C= (p.Pro1805=) | |
2 | g.26461754G>T | CA1562814 | OTOF | c.5475C>A (p.Pro1825=) c.3174C>A (p.Pro1058=) c.3234C>A (p.Pro1078=) c.3405C>A (p.Pro1135=) c.5460C>A (p.Pro1820=) c.5520C>A (p.Pro1840=) c.5415C>A (p.Pro1805=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26461755G>A | CA346131371 | OTOF | c.5474C>T (p.Pro1825Leu) c.3173C>T (p.Pro1058Leu) c.3233C>T (p.Pro1078Leu) c.3404C>T (p.Pro1135Leu) c.5459C>T (p.Pro1820Leu) c.5519C>T (p.Pro1840Leu) c.5414C>T (p.Pro1805Leu) | |
2 | g.26461755G>C | CA346131370 | OTOF | c.5474C>G (p.Pro1825Arg) c.3173C>G (p.Pro1058Arg) c.3233C>G (p.Pro1078Arg) c.3404C>G (p.Pro1135Arg) c.5459C>G (p.Pro1820Arg) c.5519C>G (p.Pro1840Arg) c.5414C>G (p.Pro1805Arg) | |
2 | g.26461755G>T | CA346131369 | OTOF | c.5474C>A (p.Pro1825His) c.3173C>A (p.Pro1058His) c.3233C>A (p.Pro1078His) c.3404C>A (p.Pro1135His) c.5459C>A (p.Pro1820His) c.5519C>A (p.Pro1840His) c.5414C>A (p.Pro1805His) | |
2 | g.26461756G>A | CA346131372 | OTOF | c.5473C>T (p.Pro1825Ser) c.3172C>T (p.Pro1058Ser) c.3232C>T (p.Pro1078Ser) c.3403C>T (p.Pro1135Ser) c.5458C>T (p.Pro1820Ser) c.5518C>T (p.Pro1840Ser) c.5413C>T (p.Pro1805Ser) | gnomAD v4 |
2 | g.26461756G>C | CA340527 | OTOF | c.5473C>G (p.Pro1825Ala) c.3172C>G (p.Pro1058Ala) c.3232C>G (p.Pro1078Ala) c.3403C>G (p.Pro1135Ala) c.5458C>G (p.Pro1820Ala) c.5518C>G (p.Pro1840Ala) c.5413C>G (p.Pro1805Ala) | ClinVar dbSNP |
2 | g.26461756G= | CA1239825412 | OTOF | c.5473C= (p.Pro1825=) c.3172C= (p.Pro1058=) c.3232C= (p.Pro1078=) c.3403C= (p.Pro1135=) c.5458C= (p.Pro1820=) c.5518C= (p.Pro1840=) c.5413C= (p.Pro1805=) | |
2 | g.26461756G>T | CA346131373 | OTOF | c.5473C>A (p.Pro1825Thr) c.3172C>A (p.Pro1058Thr) c.3232C>A (p.Pro1078Thr) c.3403C>A (p.Pro1135Thr) c.5458C>A (p.Pro1820Thr) c.5518C>A (p.Pro1840Thr) c.5413C>A (p.Pro1805Thr) |