Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.26467334A>C | CA2658234856 | OTOF | c.4227+31T>G (n.4227+31T>G) c.1926+31T>G (n.1926+31T>G) c.1986+31T>G (n.1986+31T>G) c.2157+31T>G (n.2157+31T>G) c.4212+31T>G (n.4212+31T>G) c.4272+31T>G (n.4272+31T>G) c.4167+31T>G (n.4167+31T>G) | gnomAD v4 |
2 | g.26467336C>T | CA2658234857 | OTOF | c.4227+29G>A (n.4227+29G>A) c.1926+29G>A (n.1926+29G>A) c.1986+29G>A (n.1986+29G>A) c.2157+29G>A (n.2157+29G>A) c.4212+29G>A (n.4212+29G>A) c.4272+29G>A (n.4272+29G>A) c.4167+29G>A (n.4167+29G>A) | gnomAD v4 |
2 | g.26467337C>T | CA2658234858 | OTOF | c.4227+28G>A (n.4227+28G>A) c.1926+28G>A (n.1926+28G>A) c.1986+28G>A (n.1986+28G>A) c.2157+28G>A (n.2157+28G>A) c.4212+28G>A (n.4212+28G>A) c.4272+28G>A (n.4272+28G>A) c.4167+28G>A (n.4167+28G>A) | gnomAD v4 |
2 | g.26467341A>G | CA2749240443 | OTOF | c.4227+24T>C (n.4227+24T>C) c.1926+24T>C (n.1926+24T>C) c.1986+24T>C (n.1986+24T>C) c.2157+24T>C (n.2157+24T>C) c.4212+24T>C (n.4212+24T>C) c.4272+24T>C (n.4272+24T>C) c.4167+24T>C (n.4167+24T>C) | |
2 | g.26467343G>A | CA1239818374 | OTOF | c.4227+22C>T (n.4227+22C>T) c.1926+22C>T (n.1926+22C>T) c.1986+22C>T (n.1986+22C>T) c.2157+22C>T (n.2157+22C>T) c.4212+22C>T (n.4212+22C>T) c.4272+22C>T (n.4272+22C>T) c.4167+22C>T (n.4167+22C>T) | dbSNP |
2 | g.26467343G= | CA1239818372 | OTOF | c.4227+22C= (n.4227+22C=) c.1926+22C= (n.1926+22C=) c.1986+22C= (n.1986+22C=) c.2157+22C= (n.2157+22C=) c.4212+22C= (n.4212+22C=) c.4272+22C= (n.4272+22C=) c.4167+22C= (n.4167+22C=) | |
2 | g.26467343G>T | CA531761806 | OTOF | c.4227+22C>A (n.4227+22C>A) c.1926+22C>A (n.1926+22C>A) c.1986+22C>A (n.1986+22C>A) c.2157+22C>A (n.2157+22C>A) c.4212+22C>A (n.4212+22C>A) c.4272+22C>A (n.4272+22C>A) c.4167+22C>A (n.4167+22C>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26467344G= | CA1239818376 | OTOF | c.4227+21C= (n.4227+21C=) c.1926+21C= (n.1926+21C=) c.1986+21C= (n.1986+21C=) c.2157+21C= (n.2157+21C=) c.4212+21C= (n.4212+21C=) c.4272+21C= (n.4272+21C=) c.4167+21C= (n.4167+21C=) | |
2 | g.26467344G>T | CA1563253 | OTOF | c.4227+21C>A (n.4227+21C>A) c.1926+21C>A (n.1926+21C>A) c.1986+21C>A (n.1986+21C>A) c.2157+21C>A (n.2157+21C>A) c.4212+21C>A (n.4212+21C>A) c.4272+21C>A (n.4272+21C>A) c.4167+21C>A (n.4167+21C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26467345G= | CA1239818378 | OTOF | c.4227+20C= (n.4227+20C=) c.1926+20C= (n.1926+20C=) c.1986+20C= (n.1986+20C=) c.2157+20C= (n.2157+20C=) c.4212+20C= (n.4212+20C=) c.4272+20C= (n.4272+20C=) c.4167+20C= (n.4167+20C=) | |
2 | g.26467345G>T | CA1563254 | OTOF | c.4227+20C>A (n.4227+20C>A) c.1926+20C>A (n.1926+20C>A) c.1986+20C>A (n.1986+20C>A) c.2157+20C>A (n.2157+20C>A) c.4212+20C>A (n.4212+20C>A) c.4272+20C>A (n.4272+20C>A) c.4167+20C>A (n.4167+20C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26467346T>C | CA2658234859 | OTOF | c.4227+19A>G (n.4227+19A>G) c.1926+19A>G (n.1926+19A>G) c.1986+19A>G (n.1986+19A>G) c.2157+19A>G (n.2157+19A>G) c.4212+19A>G (n.4212+19A>G) c.4272+19A>G (n.4272+19A>G) c.4167+19A>G (n.4167+19A>G) | gnomAD v4 |
2 | g.26467347C>A | CA2749240444 | OTOF | c.4227+18G>T (n.4227+18G>T) c.1926+18G>T (n.1926+18G>T) c.1986+18G>T (n.1986+18G>T) c.2157+18G>T (n.2157+18G>T) c.4212+18G>T (n.4212+18G>T) c.4272+18G>T (n.4272+18G>T) c.4167+18G>T (n.4167+18G>T) | |
2 | g.26467349G>A | CA2739274271 | OTOF | c.4227+16C>T (n.4227+16C>T) c.1926+16C>T (n.1926+16C>T) c.1986+16C>T (n.1986+16C>T) c.2157+16C>T (n.2157+16C>T) c.4212+16C>T (n.4212+16C>T) c.4272+16C>T (n.4272+16C>T) c.4167+16C>T (n.4167+16C>T) | ClinVar |
2 | g.26467349G= | CA1239818381 | OTOF | c.4227+16C= (n.4227+16C=) c.1926+16C= (n.1926+16C=) c.1986+16C= (n.1986+16C=) c.2157+16C= (n.2157+16C=) c.4212+16C= (n.4212+16C=) c.4272+16C= (n.4272+16C=) c.4167+16C= (n.4167+16C=) | |
2 | g.26467349G>T | CA1239818383 | OTOF | c.4227+16C>A (n.4227+16C>A) c.1926+16C>A (n.1926+16C>A) c.1986+16C>A (n.1986+16C>A) c.2157+16C>A (n.2157+16C>A) c.4212+16C>A (n.4212+16C>A) c.4272+16C>A (n.4272+16C>A) c.4167+16C>A (n.4167+16C>A) | ClinVar dbSNP gnomAD v4 |
2 | g.26467350C>T | CA2749240445 | OTOF | c.4227+15G>A (n.4227+15G>A) c.1926+15G>A (n.1926+15G>A) c.1986+15G>A (n.1986+15G>A) c.2157+15G>A (n.2157+15G>A) c.4212+15G>A (n.4212+15G>A) c.4272+15G>A (n.4272+15G>A) c.4167+15G>A (n.4167+15G>A) | |
2 | g.26467351T>A | CA2697547943 | OTOF | c.4227+14A>T (n.4227+14A>T) c.1926+14A>T (n.1926+14A>T) c.1986+14A>T (n.1986+14A>T) c.2157+14A>T (n.2157+14A>T) c.4212+14A>T (n.4212+14A>T) c.4272+14A>T (n.4272+14A>T) c.4167+14A>T (n.4167+14A>T) | ClinVar |
2 | g.26467352C>T | CA2658234860 | OTOF | c.4227+13G>A (n.4227+13G>A) c.1926+13G>A (n.1926+13G>A) c.1986+13G>A (n.1986+13G>A) c.2157+13G>A (n.2157+13G>A) c.4212+13G>A (n.4212+13G>A) c.4272+13G>A (n.4272+13G>A) c.4167+13G>A (n.4167+13G>A) | gnomAD v4 |
2 | g.26467353C>G | CA2658234861 | OTOF | c.4227+12G>C (n.4227+12G>C) c.1926+12G>C (n.1926+12G>C) c.1986+12G>C (n.1986+12G>C) c.2157+12G>C (n.2157+12G>C) c.4212+12G>C (n.4212+12G>C) c.4272+12G>C (n.4272+12G>C) c.4167+12G>C (n.4167+12G>C) | gnomAD v4 |
2 | g.26467355A>C | CA2658234862 | OTOF | c.4227+10T>G (n.4227+10T>G) c.1926+10T>G (n.1926+10T>G) c.1986+10T>G (n.1986+10T>G) c.2157+10T>G (n.2157+10T>G) c.4212+10T>G (n.4212+10T>G) c.4272+10T>G (n.4272+10T>G) c.4167+10T>G (n.4167+10T>G) | gnomAD v4 |
2 | g.26467355_26467356delinsAG | CA1239818385 | OTOF | c.4227+9_4227+10delinsCT (n.4227+9_4227+10delinsCT) c.1926+9_1926+10delinsCT (n.1926+9_1926+10delinsCT) c.1986+9_1986+10delinsCT (n.1986+9_1986+10delinsCT) c.2157+9_2157+10delinsCT (n.2157+9_2157+10delinsCT) c.4212+9_4212+10delinsCT (n.4212+9_4212+10delinsCT) c.4272+9_4272+10delinsCT (n.4272+9_4272+10delinsCT) c.4167+9_4167+10delinsCT (n.4167+9_4167+10delinsCT) | |
2 | g.26467356G>A | CA1563256 | OTOF | c.4227+9C>T (n.4227+9C>T) c.1926+9C>T (n.1926+9C>T) c.1986+9C>T (n.1986+9C>T) c.2157+9C>T (n.2157+9C>T) c.4212+9C>T (n.4212+9C>T) c.4272+9C>T (n.4272+9C>T) c.4167+9C>T (n.4167+9C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26467356G= | CA1239818387 | OTOF | c.4227+9C= (n.4227+9C=) c.1926+9C= (n.1926+9C=) c.1986+9C= (n.1986+9C=) c.2157+9C= (n.2157+9C=) c.4212+9C= (n.4212+9C=) c.4272+9C= (n.4272+9C=) c.4167+9C= (n.4167+9C=) | |
2 | g.26467357del | CA1563255 | OTOF | c.4227+9del (n.4227+9del) c.1926+9del (n.1926+9del) c.1986+9del (n.1986+9del) c.2157+9del (n.2157+9del) c.4212+9del (n.4212+9del) c.4272+9del (n.4272+9del) c.4167+9del (n.4167+9del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26467357G>A | CA2658234863 | OTOF | c.4227+8C>T (n.4227+8C>T) c.1926+8C>T (n.1926+8C>T) c.1986+8C>T (n.1986+8C>T) c.2157+8C>T (n.2157+8C>T) c.4212+8C>T (n.4212+8C>T) c.4272+8C>T (n.4272+8C>T) c.4167+8C>T (n.4167+8C>T) | gnomAD v4 |
2 | g.26467357G>C | CA1239818391 | OTOF | c.4227+8C>G (n.4227+8C>G) c.1926+8C>G (n.1926+8C>G) c.1986+8C>G (n.1986+8C>G) c.2157+8C>G (n.2157+8C>G) c.4212+8C>G (n.4212+8C>G) c.4272+8C>G (n.4272+8C>G) c.4167+8C>G (n.4167+8C>G) | dbSNP |
2 | g.26467357G= | CA1239818390 | OTOF | c.4227+8C= (n.4227+8C=) c.1926+8C= (n.1926+8C=) c.1986+8C= (n.1986+8C=) c.2157+8C= (n.2157+8C=) c.4212+8C= (n.4212+8C=) c.4272+8C= (n.4272+8C=) c.4167+8C= (n.4167+8C=) | |
2 | g.26467359T>C | CA2658234864 | OTOF | c.4227+6A>G (n.4227+6A>G) c.1926+6A>G (n.1926+6A>G) c.1986+6A>G (n.1986+6A>G) c.2157+6A>G (n.2157+6A>G) c.4212+6A>G (n.4212+6A>G) c.4272+6A>G (n.4272+6A>G) c.4167+6A>G (n.4167+6A>G) | gnomAD v4 |
2 | g.26467360C= | CA1239818396 | OTOF | c.4227+5G= (n.4227+5G=) c.1926+5G= (n.1926+5G=) c.1986+5G= (n.1986+5G=) c.2157+5G= (n.2157+5G=) c.4212+5G= (n.4212+5G=) c.4272+5G= (n.4272+5G=) c.4167+5G= (n.4167+5G=) | |
2 | g.26467360C>G | CA183705 | OTOF | c.4227+5G>C (n.4227+5G>C) c.1926+5G>C (n.1926+5G>C) c.1986+5G>C (n.1986+5G>C) c.2157+5G>C (n.2157+5G>C) c.4212+5G>C (n.4212+5G>C) c.4272+5G>C (n.4272+5G>C) c.4167+5G>C (n.4167+5G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26467360C>T | CA531761807 | OTOF | c.4227+5G>A (n.4227+5G>A) c.1926+5G>A (n.1926+5G>A) c.1986+5G>A (n.1986+5G>A) c.2157+5G>A (n.2157+5G>A) c.4212+5G>A (n.4212+5G>A) c.4272+5G>A (n.4272+5G>A) c.4167+5G>A (n.4167+5G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26467361T>C | CA44413914 | OTOF | c.4227+4A>G (n.4227+4A>G) c.1926+4A>G (n.1926+4A>G) c.1986+4A>G (n.1986+4A>G) c.2157+4A>G (n.2157+4A>G) c.4212+4A>G (n.4212+4A>G) c.4272+4A>G (n.4272+4A>G) c.4167+4A>G (n.4167+4A>G) | dbSNP |
2 | g.26467361T= | CA1239818401 | OTOF | c.4227+4A= (n.4227+4A=) c.1926+4A= (n.1926+4A=) c.1986+4A= (n.1986+4A=) c.2157+4A= (n.2157+4A=) c.4212+4A= (n.4212+4A=) c.4272+4A= (n.4272+4A=) c.4167+4A= (n.4167+4A=) | |
2 | g.26467362C>A | CA2658234865 | OTOF | c.4227+3G>T (n.4227+3G>T) c.1926+3G>T (n.1926+3G>T) c.1986+3G>T (n.1986+3G>T) c.2157+3G>T (n.2157+3G>T) c.4212+3G>T (n.4212+3G>T) c.4272+3G>T (n.4272+3G>T) c.4167+3G>T (n.4167+3G>T) | gnomAD v4 |
2 | g.26467363A>C | CA346137153 | OTOF | c.4227+2T>G (n.4227+2T>G) c.1926+2T>G (n.1926+2T>G) c.1986+2T>G (n.1986+2T>G) c.2157+2T>G (n.2157+2T>G) c.4212+2T>G (n.4212+2T>G) c.4272+2T>G (n.4272+2T>G) c.4167+2T>G (n.4167+2T>G) | |
2 | g.26467363A>G | CA346137152 | OTOF | c.4227+2T>C (n.4227+2T>C) c.1926+2T>C (n.1926+2T>C) c.1986+2T>C (n.1986+2T>C) c.2157+2T>C (n.2157+2T>C) c.4212+2T>C (n.4212+2T>C) c.4272+2T>C (n.4272+2T>C) c.4167+2T>C (n.4167+2T>C) | |
2 | g.26467363A>T | CA346137151 | OTOF | c.4227+2T>A (n.4227+2T>A) c.1926+2T>A (n.1926+2T>A) c.1986+2T>A (n.1986+2T>A) c.2157+2T>A (n.2157+2T>A) c.4212+2T>A (n.4212+2T>A) c.4272+2T>A (n.4272+2T>A) c.4167+2T>A (n.4167+2T>A) | |
2 | g.26467364C>A | CA345122 | OTOF | c.4227+1G>T (n.4227+1G>T) c.1926+1G>T (n.1926+1G>T) c.1986+1G>T (n.1986+1G>T) c.2157+1G>T (n.2157+1G>T) c.4212+1G>T (n.4212+1G>T) c.4272+1G>T (n.4272+1G>T) c.4167+1G>T (n.4167+1G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26467364C= | CA1239818407 | OTOF | c.4227+1G= (n.4227+1G=) c.1926+1G= (n.1926+1G=) c.1986+1G= (n.1986+1G=) c.2157+1G= (n.2157+1G=) c.4212+1G= (n.4212+1G=) c.4272+1G= (n.4272+1G=) c.4167+1G= (n.4167+1G=) | |
2 | g.26467364C>G | CA346137156 | OTOF | c.4227+1G>C (n.4227+1G>C) c.1926+1G>C (n.1926+1G>C) c.1986+1G>C (n.1986+1G>C) c.2157+1G>C (n.2157+1G>C) c.4212+1G>C (n.4212+1G>C) c.4272+1G>C (n.4272+1G>C) c.4167+1G>C (n.4167+1G>C) | |
2 | g.26467364C>T | CA346137157 | OTOF | c.4227+1G>A (n.4227+1G>A) c.1926+1G>A (n.1926+1G>A) c.1986+1G>A (n.1986+1G>A) c.2157+1G>A (n.2157+1G>A) c.4212+1G>A (n.4212+1G>A) c.4272+1G>A (n.4272+1G>A) c.4167+1G>A (n.4167+1G>A) | gnomAD v4 |
2 | g.26467365C>A | CA346137158 | OTOF | c.4227G>T (p.Lys1409Asn) c.1926G>T (p.Lys642Asn) c.1986G>T (p.Lys662Asn) c.2157G>T (p.Lys719Asn) c.4212G>T (p.Lys1404Asn) c.4272G>T (p.Lys1424Asn) c.4167G>T (p.Lys1389Asn) | |
2 | g.26467365C>G | CA346137159 | OTOF | c.4227G>C (p.Lys1409Asn) c.1926G>C (p.Lys642Asn) c.1986G>C (p.Lys662Asn) c.2157G>C (p.Lys719Asn) c.4212G>C (p.Lys1404Asn) c.4272G>C (p.Lys1424Asn) c.4167G>C (p.Lys1389Asn) | |
2 | g.26467365C>T | CA425207369 | OTOF | c.4227G>A (p.Lys1409=) c.1926G>A (p.Lys642=) c.1986G>A (p.Lys662=) c.2157G>A (p.Lys719=) c.4212G>A (p.Lys1404=) c.4272G>A (p.Lys1424=) c.4167G>A (p.Lys1389=) | COSMIC COSMIC COSMIC |
2 | g.26467366T>A | CA346137164 | OTOF | c.4226A>T (p.Lys1409Met) c.1925A>T (p.Lys642Met) c.1985A>T (p.Lys662Met) c.2156A>T (p.Lys719Met) c.4211A>T (p.Lys1404Met) c.4271A>T (p.Lys1424Met) c.4166A>T (p.Lys1389Met) | |
2 | g.26467366T>C | CA346137163 | OTOF | c.4226A>G (p.Lys1409Arg) c.1925A>G (p.Lys642Arg) c.1985A>G (p.Lys662Arg) c.2156A>G (p.Lys719Arg) c.4211A>G (p.Lys1404Arg) c.4271A>G (p.Lys1424Arg) c.4166A>G (p.Lys1389Arg) | dbSNP gnomAD v4 |
2 | g.26467366T>G | CA346137161 | OTOF | c.4226A>C (p.Lys1409Thr) c.1925A>C (p.Lys642Thr) c.1985A>C (p.Lys662Thr) c.2156A>C (p.Lys719Thr) c.4211A>C (p.Lys1404Thr) c.4271A>C (p.Lys1424Thr) c.4166A>C (p.Lys1389Thr) | |
2 | g.26467366T= | CA1239818414 | OTOF | c.4226A= (p.Lys1409=) c.1925A= (p.Lys642=) c.1985A= (p.Lys662=) c.2156A= (p.Lys719=) c.4211A= (p.Lys1404=) c.4271A= (p.Lys1424=) c.4166A= (p.Lys1389=) | |
2 | g.26467367T>A | CA346137166 | OTOF | c.4225A>T (p.Lys1409Ter) c.1924A>T (p.Lys642Ter) c.1984A>T (p.Lys662Ter) c.2155A>T (p.Lys719Ter) c.4210A>T (p.Lys1404Ter) c.4270A>T (p.Lys1424Ter) c.4165A>T (p.Lys1389Ter) | ClinVar |
2 | g.26467367T>C | CA346137167 | OTOF | c.4225A>G (p.Lys1409Glu) c.1924A>G (p.Lys642Glu) c.1984A>G (p.Lys662Glu) c.2155A>G (p.Lys719Glu) c.4210A>G (p.Lys1404Glu) c.4270A>G (p.Lys1424Glu) c.4165A>G (p.Lys1389Glu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26467367T>G | CA346137169 | OTOF | c.4225A>C (p.Lys1409Gln) c.1924A>C (p.Lys642Gln) c.1984A>C (p.Lys662Gln) c.2155A>C (p.Lys719Gln) c.4210A>C (p.Lys1404Gln) c.4270A>C (p.Lys1424Gln) c.4165A>C (p.Lys1389Gln) | |
2 | g.26467367T= | CA1239818417 | OTOF | c.4225A= (p.Lys1409=) c.1924A= (p.Lys642=) c.1984A= (p.Lys662=) c.2155A= (p.Lys719=) c.4210A= (p.Lys1404=) c.4270A= (p.Lys1424=) c.4165A= (p.Lys1389=) | |
2 | g.26467368A= | CA1239818419 | OTOF | c.4224T= (p.Leu1408=) c.1923T= (p.Leu641=) c.1983T= (p.Leu661=) c.2154T= (p.Leu718=) c.4209T= (p.Leu1403=) c.4269T= (p.Leu1423=) c.4164T= (p.Leu1388=) | |
2 | g.26467368A>C | CA425207371 | OTOF | c.4224T>G (p.Leu1408=) c.1923T>G (p.Leu641=) c.1983T>G (p.Leu661=) c.2154T>G (p.Leu718=) c.4209T>G (p.Leu1403=) c.4269T>G (p.Leu1423=) c.4164T>G (p.Leu1388=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26467368A>G | CA425207372 | OTOF | c.4224T>C (p.Leu1408=) c.1923T>C (p.Leu641=) c.1983T>C (p.Leu661=) c.2154T>C (p.Leu718=) c.4209T>C (p.Leu1403=) c.4269T>C (p.Leu1423=) c.4164T>C (p.Leu1388=) | |
2 | g.26467368A>T | CA425207374 | OTOF | c.4224T>A (p.Leu1408=) c.1923T>A (p.Leu641=) c.1983T>A (p.Leu661=) c.2154T>A (p.Leu718=) c.4209T>A (p.Leu1403=) c.4269T>A (p.Leu1423=) c.4164T>A (p.Leu1388=) | |
2 | g.26467369A>C | CA346137171 | OTOF | c.4223T>G (p.Leu1408Arg) c.1922T>G (p.Leu641Arg) c.1982T>G (p.Leu661Arg) c.2153T>G (p.Leu718Arg) c.4208T>G (p.Leu1403Arg) c.4268T>G (p.Leu1423Arg) c.4163T>G (p.Leu1388Arg) | |
2 | g.26467369A>G | CA346137172 | OTOF | c.4223T>C (p.Leu1408Pro) c.1922T>C (p.Leu641Pro) c.1982T>C (p.Leu661Pro) c.2153T>C (p.Leu718Pro) c.4208T>C (p.Leu1403Pro) c.4268T>C (p.Leu1423Pro) c.4163T>C (p.Leu1388Pro) | |
2 | g.26467369A>T | CA346137174 | OTOF | c.4223T>A (p.Leu1408His) c.1922T>A (p.Leu641His) c.1982T>A (p.Leu661His) c.2153T>A (p.Leu718His) c.4208T>A (p.Leu1403His) c.4268T>A (p.Leu1423His) c.4163T>A (p.Leu1388His) | |
2 | g.26467370G>A | CA346137180 | OTOF | c.4222C>T (p.Leu1408Phe) c.1921C>T (p.Leu641Phe) c.1981C>T (p.Leu661Phe) c.2152C>T (p.Leu718Phe) c.4207C>T (p.Leu1403Phe) c.4267C>T (p.Leu1423Phe) c.4162C>T (p.Leu1388Phe) | |
2 | g.26467370G>C | CA346137183 | OTOF | c.4222C>G (p.Leu1408Val) c.1921C>G (p.Leu641Val) c.1981C>G (p.Leu661Val) c.2152C>G (p.Leu718Val) c.4207C>G (p.Leu1403Val) c.4267C>G (p.Leu1423Val) c.4162C>G (p.Leu1388Val) | |
2 | g.26467370G>T | CA346137181 | OTOF | c.4222C>A (p.Leu1408Ile) c.1921C>A (p.Leu641Ile) c.1981C>A (p.Leu661Ile) c.2152C>A (p.Leu718Ile) c.4207C>A (p.Leu1403Ile) c.4267C>A (p.Leu1423Ile) c.4162C>A (p.Leu1388Ile) | |
2 | g.26467371C>A | CA346137185 | OTOF | c.4221G>T (p.Glu1407Asp) c.1920G>T (p.Glu640Asp) c.1980G>T (p.Glu660Asp) c.2151G>T (p.Glu717Asp) c.4206G>T (p.Glu1402Asp) c.4266G>T (p.Glu1422Asp) c.4161G>T (p.Glu1387Asp) | |
2 | g.26467371C= | CA1239818421 | OTOF | c.4221G= (p.Glu1407=) c.1920G= (p.Glu640=) c.1980G= (p.Glu660=) c.2151G= (p.Glu717=) c.4206G= (p.Glu1402=) c.4266G= (p.Glu1422=) c.4161G= (p.Glu1387=) | |
2 | g.26467371C>G | CA346137187 | OTOF | c.4221G>C (p.Glu1407Asp) c.1920G>C (p.Glu640Asp) c.1980G>C (p.Glu660Asp) c.2151G>C (p.Glu717Asp) c.4206G>C (p.Glu1402Asp) c.4266G>C (p.Glu1422Asp) c.4161G>C (p.Glu1387Asp) | |
2 | g.26467371C>T | CA425207378 | OTOF | c.4221G>A (p.Glu1407=) c.1920G>A (p.Glu640=) c.1980G>A (p.Glu660=) c.2151G>A (p.Glu717=) c.4206G>A (p.Glu1402=) c.4266G>A (p.Glu1422=) c.4161G>A (p.Glu1387=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26467372T>A | CA346137188 | OTOF | c.4220A>T (p.Glu1407Val) c.1919A>T (p.Glu640Val) c.1979A>T (p.Glu660Val) c.2150A>T (p.Glu717Val) c.4205A>T (p.Glu1402Val) c.4265A>T (p.Glu1422Val) c.4160A>T (p.Glu1387Val) | |
2 | g.26467372T>C | CA1563257 | OTOF | c.4220A>G (p.Glu1407Gly) c.1919A>G (p.Glu640Gly) c.1979A>G (p.Glu660Gly) c.2150A>G (p.Glu717Gly) c.4205A>G (p.Glu1402Gly) c.4265A>G (p.Glu1422Gly) c.4160A>G (p.Glu1387Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26467372T>G | CA346137189 | OTOF | c.4220A>C (p.Glu1407Ala) c.1919A>C (p.Glu640Ala) c.1979A>C (p.Glu660Ala) c.2150A>C (p.Glu717Ala) c.4205A>C (p.Glu1402Ala) c.4265A>C (p.Glu1422Ala) c.4160A>C (p.Glu1387Ala) | |
2 | g.26467372T= | CA1239818422 | OTOF | c.4220A= (p.Glu1407=) c.1919A= (p.Glu640=) c.1979A= (p.Glu660=) c.2150A= (p.Glu717=) c.4205A= (p.Glu1402=) c.4265A= (p.Glu1422=) c.4160A= (p.Glu1387=) | |
2 | g.26467373C>A | CA346137190 | OTOF | c.4219G>T (p.Glu1407Ter) c.1918G>T (p.Glu640Ter) c.1978G>T (p.Glu660Ter) c.2149G>T (p.Glu717Ter) c.4204G>T (p.Glu1402Ter) c.4264G>T (p.Glu1422Ter) c.4159G>T (p.Glu1387Ter) | |
2 | g.26467373C= | CA1239818424 | OTOF | c.4219G= (p.Glu1407=) c.1918G= (p.Glu640=) c.1978G= (p.Glu660=) c.2149G= (p.Glu717=) c.4204G= (p.Glu1402=) c.4264G= (p.Glu1422=) c.4159G= (p.Glu1387=) | |
2 | g.26467373C>G | CA346137191 | OTOF | c.4219G>C (p.Glu1407Gln) c.1918G>C (p.Glu640Gln) c.1978G>C (p.Glu660Gln) c.2149G>C (p.Glu717Gln) c.4204G>C (p.Glu1402Gln) c.4264G>C (p.Glu1422Gln) c.4159G>C (p.Glu1387Gln) | |
2 | g.26467373C>T | CA346137192 | OTOF | c.4219G>A (p.Glu1407Lys) c.1918G>A (p.Glu640Lys) c.1978G>A (p.Glu660Lys) c.2149G>A (p.Glu717Lys) c.4204G>A (p.Glu1402Lys) c.4264G>A (p.Glu1422Lys) c.4159G>A (p.Glu1387Lys) | dbSNP |
2 | g.26467374A>C | CA346137193 | OTOF | c.4218T>G (p.Asp1406Glu) c.1917T>G (p.Asp639Glu) c.1977T>G (p.Asp659Glu) c.2148T>G (p.Asp716Glu) c.4203T>G (p.Asp1401Glu) c.4263T>G (p.Asp1421Glu) c.4158T>G (p.Asp1386Glu) | gnomAD v4 |
2 | g.26467374A>G | CA425207381 | OTOF | c.4218T>C (p.Asp1406=) c.1917T>C (p.Asp639=) c.1977T>C (p.Asp659=) c.2148T>C (p.Asp716=) c.4203T>C (p.Asp1401=) c.4263T>C (p.Asp1421=) c.4158T>C (p.Asp1386=) | gnomAD v4 |
2 | g.26467374A>T | CA346137194 | OTOF | c.4218T>A (p.Asp1406Glu) c.1917T>A (p.Asp639Glu) c.1977T>A (p.Asp659Glu) c.2148T>A (p.Asp716Glu) c.4203T>A (p.Asp1401Glu) c.4263T>A (p.Asp1421Glu) c.4158T>A (p.Asp1386Glu) | |
2 | g.26467375T>A | CA346137197 | OTOF | c.4217A>T (p.Asp1406Val) c.1916A>T (p.Asp639Val) c.1976A>T (p.Asp659Val) c.2147A>T (p.Asp716Val) c.4202A>T (p.Asp1401Val) c.4262A>T (p.Asp1421Val) c.4157A>T (p.Asp1386Val) | |
2 | g.26467375T>C | CA346137196 | OTOF | c.4217A>G (p.Asp1406Gly) c.1916A>G (p.Asp639Gly) c.1976A>G (p.Asp659Gly) c.2147A>G (p.Asp716Gly) c.4202A>G (p.Asp1401Gly) c.4262A>G (p.Asp1421Gly) c.4157A>G (p.Asp1386Gly) | |
2 | g.26467375T>G | CA346137195 | OTOF | c.4217A>C (p.Asp1406Ala) c.1916A>C (p.Asp639Ala) c.1976A>C (p.Asp659Ala) c.2147A>C (p.Asp716Ala) c.4202A>C (p.Asp1401Ala) c.4262A>C (p.Asp1421Ala) c.4157A>C (p.Asp1386Ala) | |
2 | g.26467376C>A | CA346137198 | OTOF | c.4216G>T (p.Asp1406Tyr) c.1915G>T (p.Asp639Tyr) c.1975G>T (p.Asp659Tyr) c.2146G>T (p.Asp716Tyr) c.4201G>T (p.Asp1401Tyr) c.4261G>T (p.Asp1421Tyr) c.4156G>T (p.Asp1386Tyr) | |
2 | g.26467376C= | CA1239818428 | OTOF | c.4216G= (p.Asp1406=) c.1915G= (p.Asp639=) c.1975G= (p.Asp659=) c.2146G= (p.Asp716=) c.4201G= (p.Asp1401=) c.4261G= (p.Asp1421=) c.4156G= (p.Asp1386=) | |
2 | g.26467376C>G | CA346137199 | OTOF | c.4216G>C (p.Asp1406His) c.1915G>C (p.Asp639His) c.1975G>C (p.Asp659His) c.2146G>C (p.Asp716His) c.4201G>C (p.Asp1401His) c.4261G>C (p.Asp1421His) c.4156G>C (p.Asp1386His) | |
2 | g.26467376C>T | CA142880 | OTOF | c.4216G>A (p.Asp1406Asn) c.1915G>A (p.Asp639Asn) c.1975G>A (p.Asp659Asn) c.2146G>A (p.Asp716Asn) c.4201G>A (p.Asp1401Asn) c.4261G>A (p.Asp1421Asn) c.4156G>A (p.Asp1386Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26467377A>C | CA346137200 | OTOF | c.4215T>G (p.Ile1405Met) c.1914T>G (p.Ile638Met) c.1974T>G (p.Ile658Met) c.2145T>G (p.Ile715Met) c.4200T>G (p.Ile1400Met) c.4260T>G (p.Ile1420Met) c.4155T>G (p.Ile1385Met) | |
2 | g.26467377A>G | CA425207382 | OTOF | c.4215T>C (p.Ile1405=) c.1914T>C (p.Ile638=) c.1974T>C (p.Ile658=) c.2145T>C (p.Ile715=) c.4200T>C (p.Ile1400=) c.4260T>C (p.Ile1420=) c.4155T>C (p.Ile1385=) | |
2 | g.26467377A>T | CA425207383 | OTOF | c.4215T>A (p.Ile1405=) c.1914T>A (p.Ile638=) c.1974T>A (p.Ile658=) c.2145T>A (p.Ile715=) c.4200T>A (p.Ile1400=) c.4260T>A (p.Ile1420=) c.4155T>A (p.Ile1385=) | COSMIC COSMIC COSMIC |
2 | g.26467378A>C | CA346137201 | OTOF | c.4214T>G (p.Ile1405Ser) c.1913T>G (p.Ile638Ser) c.1973T>G (p.Ile658Ser) c.2144T>G (p.Ile715Ser) c.4199T>G (p.Ile1400Ser) c.4259T>G (p.Ile1420Ser) c.4154T>G (p.Ile1385Ser) | |
2 | g.26467378A>G | CA346137202 | OTOF | c.4214T>C (p.Ile1405Thr) c.1913T>C (p.Ile638Thr) c.1973T>C (p.Ile658Thr) c.2144T>C (p.Ile715Thr) c.4199T>C (p.Ile1400Thr) c.4259T>C (p.Ile1420Thr) c.4154T>C (p.Ile1385Thr) | gnomAD v4 |
2 | g.26467378A>T | CA346137203 | OTOF | c.4214T>A (p.Ile1405Asn) c.1913T>A (p.Ile638Asn) c.1973T>A (p.Ile658Asn) c.2144T>A (p.Ile715Asn) c.4199T>A (p.Ile1400Asn) c.4259T>A (p.Ile1420Asn) c.4154T>A (p.Ile1385Asn) | |
2 | g.26467379T>A | CA346137204 | OTOF | c.4213A>T (p.Ile1405Phe) c.1912A>T (p.Ile638Phe) c.1972A>T (p.Ile658Phe) c.2143A>T (p.Ile715Phe) c.4198A>T (p.Ile1400Phe) c.4258A>T (p.Ile1420Phe) c.4153A>T (p.Ile1385Phe) | |
2 | g.26467379T>C | CA177547 | OTOF | c.4213A>G (p.Ile1405Val) c.1912A>G (p.Ile638Val) c.1972A>G (p.Ile658Val) c.2143A>G (p.Ile715Val) c.4198A>G (p.Ile1400Val) c.4258A>G (p.Ile1420Val) c.4153A>G (p.Ile1385Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26467379T>G | CA346137205 | OTOF | c.4213A>C (p.Ile1405Leu) c.1912A>C (p.Ile638Leu) c.1972A>C (p.Ile658Leu) c.2143A>C (p.Ile715Leu) c.4198A>C (p.Ile1400Leu) c.4258A>C (p.Ile1420Leu) c.4153A>C (p.Ile1385Leu) | |
2 | g.26467379T= | CA1239818435 | OTOF | c.4213A= (p.Ile1405=) c.1912A= (p.Ile638=) c.1972A= (p.Ile658=) c.2143A= (p.Ile715=) c.4198A= (p.Ile1400=) c.4258A= (p.Ile1420=) c.4153A= (p.Ile1385=) | |
2 | g.26467380C>A | CA346137206 | OTOF | c.4212G>T (p.Lys1404Asn) c.1911G>T (p.Lys637Asn) c.1971G>T (p.Lys657Asn) c.2142G>T (p.Lys714Asn) c.4197G>T (p.Lys1399Asn) c.4257G>T (p.Lys1419Asn) c.4152G>T (p.Lys1384Asn) | |
2 | g.26467380C>G | CA346137207 | OTOF | c.4212G>C (p.Lys1404Asn) c.1911G>C (p.Lys637Asn) c.1971G>C (p.Lys657Asn) c.2142G>C (p.Lys714Asn) c.4197G>C (p.Lys1399Asn) c.4257G>C (p.Lys1419Asn) c.4152G>C (p.Lys1384Asn) | |
2 | g.26467380C>T | CA425207387 | OTOF | c.4212G>A (p.Lys1404=) c.1911G>A (p.Lys637=) c.1971G>A (p.Lys657=) c.2142G>A (p.Lys714=) c.4197G>A (p.Lys1399=) c.4257G>A (p.Lys1419=) c.4152G>A (p.Lys1384=) | |
2 | g.26467381T>A | CA346137208 | OTOF | c.4211A>T (p.Lys1404Met) c.1910A>T (p.Lys637Met) c.1970A>T (p.Lys657Met) c.2141A>T (p.Lys714Met) c.4196A>T (p.Lys1399Met) c.4256A>T (p.Lys1419Met) c.4151A>T (p.Lys1384Met) | |
2 | g.26467381T>C | CA346137209 | OTOF | c.4211A>G (p.Lys1404Arg) c.1910A>G (p.Lys637Arg) c.1970A>G (p.Lys657Arg) c.2141A>G (p.Lys714Arg) c.4196A>G (p.Lys1399Arg) c.4256A>G (p.Lys1419Arg) c.4151A>G (p.Lys1384Arg) | |
2 | g.26467381T>G | CA346137210 | OTOF | c.4211A>C (p.Lys1404Thr) c.1910A>C (p.Lys637Thr) c.1970A>C (p.Lys657Thr) c.2141A>C (p.Lys714Thr) c.4196A>C (p.Lys1399Thr) c.4256A>C (p.Lys1419Thr) c.4151A>C (p.Lys1384Thr) | |
2 | g.26467382T>A | CA346137213 | OTOF | c.4210A>T (p.Lys1404Ter) c.1909A>T (p.Lys637Ter) c.1969A>T (p.Lys657Ter) c.2140A>T (p.Lys714Ter) c.4195A>T (p.Lys1399Ter) c.4255A>T (p.Lys1419Ter) c.4150A>T (p.Lys1384Ter) | |
2 | g.26467382T>C | CA346137211 | OTOF | c.4210A>G (p.Lys1404Glu) c.1909A>G (p.Lys637Glu) c.1969A>G (p.Lys657Glu) c.2140A>G (p.Lys714Glu) c.4195A>G (p.Lys1399Glu) c.4255A>G (p.Lys1419Glu) c.4150A>G (p.Lys1384Glu) | |
2 | g.26467382T>G | CA346137212 | OTOF | c.4210A>C (p.Lys1404Gln) c.1909A>C (p.Lys637Gln) c.1969A>C (p.Lys657Gln) c.2140A>C (p.Lys714Gln) c.4195A>C (p.Lys1399Gln) c.4255A>C (p.Lys1419Gln) c.4150A>C (p.Lys1384Gln) | |
2 | g.26467383G>A | CA425207388 | OTOF | c.4209C>T (p.Pro1403=) c.1908C>T (p.Pro636=) c.1968C>T (p.Pro656=) c.2139C>T (p.Pro713=) c.4194C>T (p.Pro1398=) c.4254C>T (p.Pro1418=) c.4149C>T (p.Pro1383=) | |
2 | g.26467383G>C | CA425207389 | OTOF | c.4209C>G (p.Pro1403=) c.1908C>G (p.Pro636=) c.1968C>G (p.Pro656=) c.2139C>G (p.Pro713=) c.4194C>G (p.Pro1398=) c.4254C>G (p.Pro1418=) c.4149C>G (p.Pro1383=) | |
2 | g.26467383G>T | CA425207390 | OTOF | c.4209C>A (p.Pro1403=) c.1908C>A (p.Pro636=) c.1968C>A (p.Pro656=) c.2139C>A (p.Pro713=) c.4194C>A (p.Pro1398=) c.4254C>A (p.Pro1418=) c.4149C>A (p.Pro1383=) | |
2 | g.26467384G>A | CA346137214 | OTOF | c.4208C>T (p.Pro1403Leu) c.1907C>T (p.Pro636Leu) c.1967C>T (p.Pro656Leu) c.2138C>T (p.Pro713Leu) c.4193C>T (p.Pro1398Leu) c.4253C>T (p.Pro1418Leu) c.4148C>T (p.Pro1383Leu) | |
2 | g.26467384G>C | CA346137215 | OTOF | c.4208C>G (p.Pro1403Arg) c.1907C>G (p.Pro636Arg) c.1967C>G (p.Pro656Arg) c.2138C>G (p.Pro713Arg) c.4193C>G (p.Pro1398Arg) c.4253C>G (p.Pro1418Arg) c.4148C>G (p.Pro1383Arg) | |
2 | g.26467384G>T | CA346137216 | OTOF | c.4208C>A (p.Pro1403His) c.1907C>A (p.Pro636His) c.1967C>A (p.Pro656His) c.2138C>A (p.Pro713His) c.4193C>A (p.Pro1398His) c.4253C>A (p.Pro1418His) c.4148C>A (p.Pro1383His) | |
2 | g.26467385G>A | CA346137217 | OTOF | c.4207C>T (p.Pro1403Ser) c.1906C>T (p.Pro636Ser) c.1966C>T (p.Pro656Ser) c.2137C>T (p.Pro713Ser) c.4192C>T (p.Pro1398Ser) c.4252C>T (p.Pro1418Ser) c.4147C>T (p.Pro1383Ser) | |
2 | g.26467385G>C | CA346137218 | OTOF | c.4207C>G (p.Pro1403Ala) c.1906C>G (p.Pro636Ala) c.1966C>G (p.Pro656Ala) c.2137C>G (p.Pro713Ala) c.4192C>G (p.Pro1398Ala) c.4252C>G (p.Pro1418Ala) c.4147C>G (p.Pro1383Ala) | |
2 | g.26467385G= | CA1239818438 | OTOF | c.4207C= (p.Pro1403=) c.1906C= (p.Pro636=) c.1966C= (p.Pro656=) c.2137C= (p.Pro713=) c.4192C= (p.Pro1398=) c.4252C= (p.Pro1418=) c.4147C= (p.Pro1383=) | |
2 | g.26467385G>T | CA346137219 | OTOF | c.4207C>A (p.Pro1403Thr) c.1906C>A (p.Pro636Thr) c.1966C>A (p.Pro656Thr) c.2137C>A (p.Pro713Thr) c.4192C>A (p.Pro1398Thr) c.4252C>A (p.Pro1418Thr) c.4147C>A (p.Pro1383Thr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26467386T>A | CA346137220 | OTOF | c.4206A>T (p.Lys1402Asn) c.1905A>T (p.Lys635Asn) c.1965A>T (p.Lys655Asn) c.2136A>T (p.Lys712Asn) c.4191A>T (p.Lys1397Asn) c.4251A>T (p.Lys1417Asn) c.4146A>T (p.Lys1382Asn) | |
2 | g.26467386T>C | CA425207391 | OTOF | c.4206A>G (p.Lys1402=) c.1905A>G (p.Lys635=) c.1965A>G (p.Lys655=) c.2136A>G (p.Lys712=) c.4191A>G (p.Lys1397=) c.4251A>G (p.Lys1417=) c.4146A>G (p.Lys1382=) | |
2 | g.26467386T>G | CA346137221 | OTOF | c.4206A>C (p.Lys1402Asn) c.1905A>C (p.Lys635Asn) c.1965A>C (p.Lys655Asn) c.2136A>C (p.Lys712Asn) c.4191A>C (p.Lys1397Asn) c.4251A>C (p.Lys1417Asn) c.4146A>C (p.Lys1382Asn) | |
2 | g.26467386_26467388dup | CA2658234866 | OTOF | c.4204_4206dup (p.Lys1402_Pro1403insLys) c.1903_1905dup (p.Lys635_Pro636insLys) c.1963_1965dup (p.Lys655_Pro656insLys) c.2134_2136dup (p.Lys712_Pro713insLys) c.4189_4191dup (p.Lys1397_Pro1398insLys) c.4249_4251dup (p.Lys1417_Pro1418insLys) c.4144_4146dup (p.Lys1382_Pro1383insLys) | gnomAD v4 |
2 | g.26467387T>A | CA346137222 | OTOF | c.4205A>T (p.Lys1402Ile) c.1904A>T (p.Lys635Ile) c.1964A>T (p.Lys655Ile) c.2135A>T (p.Lys712Ile) c.4190A>T (p.Lys1397Ile) c.4250A>T (p.Lys1417Ile) c.4145A>T (p.Lys1382Ile) | |
2 | g.26467387T>C | CA346137223 | OTOF | c.4205A>G (p.Lys1402Arg) c.1904A>G (p.Lys635Arg) c.1964A>G (p.Lys655Arg) c.2135A>G (p.Lys712Arg) c.4190A>G (p.Lys1397Arg) c.4250A>G (p.Lys1417Arg) c.4145A>G (p.Lys1382Arg) | |
2 | g.26467387T>G | CA346137224 | OTOF | c.4205A>C (p.Lys1402Thr) c.1904A>C (p.Lys635Thr) c.1964A>C (p.Lys655Thr) c.2135A>C (p.Lys712Thr) c.4190A>C (p.Lys1397Thr) c.4250A>C (p.Lys1417Thr) c.4145A>C (p.Lys1382Thr) | |
2 | g.26467394_26467396del | CA2658234867 | OTOF | c.4203_4205del (p.Lys1402del) c.1902_1904del (p.Lys635del) c.1962_1964del (p.Lys655del) c.2133_2135del (p.Lys712del) c.4188_4190del (p.Lys1397del) c.4248_4250del (p.Lys1417del) c.4143_4145del (p.Lys1382del) | gnomAD v4 |
2 | g.26467388T>A | CA346137227 | OTOF | c.4204A>T (p.Lys1402Ter) c.1903A>T (p.Lys635Ter) c.1963A>T (p.Lys655Ter) c.2134A>T (p.Lys712Ter) c.4189A>T (p.Lys1397Ter) c.4249A>T (p.Lys1417Ter) c.4144A>T (p.Lys1382Ter) | |
2 | g.26467388T>C | CA346137226 | OTOF | c.4204A>G (p.Lys1402Glu) c.1903A>G (p.Lys635Glu) c.1963A>G (p.Lys655Glu) c.2134A>G (p.Lys712Glu) c.4189A>G (p.Lys1397Glu) c.4249A>G (p.Lys1417Glu) c.4144A>G (p.Lys1382Glu) | |
2 | g.26467388T>G | CA346137225 | OTOF | c.4204A>C (p.Lys1402Gln) c.1903A>C (p.Lys635Gln) c.1963A>C (p.Lys655Gln) c.2134A>C (p.Lys712Gln) c.4189A>C (p.Lys1397Gln) c.4249A>C (p.Lys1417Gln) c.4144A>C (p.Lys1382Gln) | |
2 | g.26467389C>A | CA346137228 | OTOF | c.4203G>T (p.Lys1401Asn) c.1902G>T (p.Lys634Asn) c.1962G>T (p.Lys654Asn) c.2133G>T (p.Lys711Asn) c.4188G>T (p.Lys1396Asn) c.4248G>T (p.Lys1416Asn) c.4143G>T (p.Lys1381Asn) | |
2 | g.26467389C>G | CA346137229 | OTOF | c.4203G>C (p.Lys1401Asn) c.1902G>C (p.Lys634Asn) c.1962G>C (p.Lys654Asn) c.2133G>C (p.Lys711Asn) c.4188G>C (p.Lys1396Asn) c.4248G>C (p.Lys1416Asn) c.4143G>C (p.Lys1381Asn) | |
2 | g.26467389C>T | CA425207393 | OTOF | c.4203G>A (p.Lys1401=) c.1902G>A (p.Lys634=) c.1962G>A (p.Lys654=) c.2133G>A (p.Lys711=) c.4188G>A (p.Lys1396=) c.4248G>A (p.Lys1416=) c.4143G>A (p.Lys1381=) | |
2 | g.26467390T>A | CA346137230 | OTOF | c.4202A>T (p.Lys1401Met) c.1901A>T (p.Lys634Met) c.1961A>T (p.Lys654Met) c.2132A>T (p.Lys711Met) c.4187A>T (p.Lys1396Met) c.4247A>T (p.Lys1416Met) c.4142A>T (p.Lys1381Met) | |
2 | g.26467390T>C | CA346137231 | OTOF | c.4202A>G (p.Lys1401Arg) c.1901A>G (p.Lys634Arg) c.1961A>G (p.Lys654Arg) c.2132A>G (p.Lys711Arg) c.4187A>G (p.Lys1396Arg) c.4247A>G (p.Lys1416Arg) c.4142A>G (p.Lys1381Arg) | |
2 | g.26467390T>G | CA346137232 | OTOF | c.4202A>C (p.Lys1401Thr) c.1901A>C (p.Lys634Thr) c.1961A>C (p.Lys654Thr) c.2132A>C (p.Lys711Thr) c.4187A>C (p.Lys1396Thr) c.4247A>C (p.Lys1416Thr) c.4142A>C (p.Lys1381Thr) | |
2 | g.26467391T>A | CA346137233 | OTOF | c.4201A>T (p.Lys1401Ter) c.1900A>T (p.Lys634Ter) c.1960A>T (p.Lys654Ter) c.2131A>T (p.Lys711Ter) c.4186A>T (p.Lys1396Ter) c.4246A>T (p.Lys1416Ter) c.4141A>T (p.Lys1381Ter) | |
2 | g.26467391T>C | CA346137234 | OTOF | c.4201A>G (p.Lys1401Glu) c.1900A>G (p.Lys634Glu) c.1960A>G (p.Lys654Glu) c.2131A>G (p.Lys711Glu) c.4186A>G (p.Lys1396Glu) c.4246A>G (p.Lys1416Glu) c.4141A>G (p.Lys1381Glu) | |
2 | g.26467391T>G | CA346137235 | OTOF | c.4201A>C (p.Lys1401Gln) c.1900A>C (p.Lys634Gln) c.1960A>C (p.Lys654Gln) c.2131A>C (p.Lys711Gln) c.4186A>C (p.Lys1396Gln) c.4246A>C (p.Lys1416Gln) c.4141A>C (p.Lys1381Gln) | |
2 | g.26467392C>A | CA346137236 | OTOF | c.4200G>T (p.Lys1400Asn) c.1899G>T (p.Lys633Asn) c.1959G>T (p.Lys653Asn) c.2130G>T (p.Lys710Asn) c.4185G>T (p.Lys1395Asn) c.4245G>T (p.Lys1415Asn) c.4140G>T (p.Lys1380Asn) | |
2 | g.26467392C>G | CA346137237 | OTOF | c.4200G>C (p.Lys1400Asn) c.1899G>C (p.Lys633Asn) c.1959G>C (p.Lys653Asn) c.2130G>C (p.Lys710Asn) c.4185G>C (p.Lys1395Asn) c.4245G>C (p.Lys1415Asn) c.4140G>C (p.Lys1380Asn) | |
2 | g.26467392C>T | CA425207394 | OTOF | c.4200G>A (p.Lys1400=) c.1899G>A (p.Lys633=) c.1959G>A (p.Lys653=) c.2130G>A (p.Lys710=) c.4185G>A (p.Lys1395=) c.4245G>A (p.Lys1415=) c.4140G>A (p.Lys1380=) | COSMIC COSMIC COSMIC |
2 | g.26467393T>A | CA346137238 | OTOF | c.4199A>T (p.Lys1400Met) c.1898A>T (p.Lys633Met) c.1958A>T (p.Lys653Met) c.2129A>T (p.Lys710Met) c.4184A>T (p.Lys1395Met) c.4244A>T (p.Lys1415Met) c.4139A>T (p.Lys1380Met) | |
2 | g.26467393T>C | CA346137240 | OTOF | c.4199A>G (p.Lys1400Arg) c.1898A>G (p.Lys633Arg) c.1958A>G (p.Lys653Arg) c.2129A>G (p.Lys710Arg) c.4184A>G (p.Lys1395Arg) c.4244A>G (p.Lys1415Arg) c.4139A>G (p.Lys1380Arg) | dbSNP |
2 | g.26467393T>G | CA346137241 | OTOF | c.4199A>C (p.Lys1400Thr) c.1898A>C (p.Lys633Thr) c.1958A>C (p.Lys653Thr) c.2129A>C (p.Lys710Thr) c.4184A>C (p.Lys1395Thr) c.4244A>C (p.Lys1415Thr) c.4139A>C (p.Lys1380Thr) | |
2 | g.26467393T= | CA1239818440 | OTOF | c.4199A= (p.Lys1400=) c.1898A= (p.Lys633=) c.1958A= (p.Lys653=) c.2129A= (p.Lys710=) c.4184A= (p.Lys1395=) c.4244A= (p.Lys1415=) c.4139A= (p.Lys1380=) | |
2 | g.26467394T>A | CA346137244 | OTOF | c.4198A>T (p.Lys1400Ter) c.1897A>T (p.Lys633Ter) c.1957A>T (p.Lys653Ter) c.2128A>T (p.Lys710Ter) c.4183A>T (p.Lys1395Ter) c.4243A>T (p.Lys1415Ter) c.4138A>T (p.Lys1380Ter) | |
2 | g.26467394T>C | CA346137242 | OTOF | c.4198A>G (p.Lys1400Glu) c.1897A>G (p.Lys633Glu) c.1957A>G (p.Lys653Glu) c.2128A>G (p.Lys710Glu) c.4183A>G (p.Lys1395Glu) c.4243A>G (p.Lys1415Glu) c.4138A>G (p.Lys1380Glu) | gnomAD v4 |
2 | g.26467394T>G | CA346137243 | OTOF | c.4198A>C (p.Lys1400Gln) c.1897A>C (p.Lys633Gln) c.1957A>C (p.Lys653Gln) c.2128A>C (p.Lys710Gln) c.4183A>C (p.Lys1395Gln) c.4243A>C (p.Lys1415Gln) c.4138A>C (p.Lys1380Gln) | |
2 | g.26467394_26467397delinsTCTC | CA1239818443 | OTOF | c.4195_4198delinsGAGA (p.Glu1399=) c.1894_1897delinsGAGA (p.Glu632=) c.1954_1957delinsGAGA (p.Glu652=) c.2125_2128delinsGAGA (p.Glu709=) c.4180_4183delinsGAGA (p.Glu1394=) c.4240_4243delinsGAGA (p.Glu1414=) c.4135_4138delinsGAGA (p.Glu1379=) | |
2 | g.26467395C>A | CA346137245 | OTOF | c.4197G>T (p.Glu1399Asp) c.1896G>T (p.Glu632Asp) c.1956G>T (p.Glu652Asp) c.2127G>T (p.Glu709Asp) c.4182G>T (p.Glu1394Asp) c.4242G>T (p.Glu1414Asp) c.4137G>T (p.Glu1379Asp) | |
2 | g.26467395C>G | CA346137246 | OTOF | c.4197G>C (p.Glu1399Asp) c.1896G>C (p.Glu632Asp) c.1956G>C (p.Glu652Asp) c.2127G>C (p.Glu709Asp) c.4182G>C (p.Glu1394Asp) c.4242G>C (p.Glu1414Asp) c.4137G>C (p.Glu1379Asp) | |
2 | g.26467395C>T | CA425207395 | OTOF | c.4197G>A (p.Glu1399=) c.1896G>A (p.Glu632=) c.1956G>A (p.Glu652=) c.2127G>A (p.Glu709=) c.4182G>A (p.Glu1394=) c.4242G>A (p.Glu1414=) c.4137G>A (p.Glu1379=) | |
2 | g.26467395_26467397del | CA1563258 | OTOF | c.4195_4197del (p.Glu1399del) c.1894_1896del (p.Glu632del) c.1954_1956del (p.Glu652del) c.2125_2127del (p.Glu709del) c.4180_4182del (p.Glu1394del) c.4240_4242del (p.Glu1414del) c.4135_4137del (p.Glu1379del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26467395_26467397dup | CA2576699132 | OTOF | c.4195_4197dup (p.Glu1399_Lys1400insGlu) c.1894_1896dup (p.Glu632_Lys633insGlu) c.1954_1956dup (p.Glu652_Lys653insGlu) c.2125_2127dup (p.Glu709_Lys710insGlu) c.4180_4182dup (p.Glu1394_Lys1395insGlu) c.4240_4242dup (p.Glu1414_Lys1415insGlu) c.4135_4137dup (p.Glu1379_Lys1380insGlu) | |
2 | g.26467396T>A | CA346137247 | OTOF | c.4196A>T (p.Glu1399Val) c.1895A>T (p.Glu632Val) c.1955A>T (p.Glu652Val) c.2126A>T (p.Glu709Val) c.4181A>T (p.Glu1394Val) c.4241A>T (p.Glu1414Val) c.4136A>T (p.Glu1379Val) | |
2 | g.26467396T>C | CA346137248 | OTOF | c.4196A>G (p.Glu1399Gly) c.1895A>G (p.Glu632Gly) c.1955A>G (p.Glu652Gly) c.2126A>G (p.Glu709Gly) c.4181A>G (p.Glu1394Gly) c.4241A>G (p.Glu1414Gly) c.4136A>G (p.Glu1379Gly) | gnomAD v4 |
2 | g.26467396T>G | CA346137249 | OTOF | c.4196A>C (p.Glu1399Ala) c.1895A>C (p.Glu632Ala) c.1955A>C (p.Glu652Ala) c.2126A>C (p.Glu709Ala) c.4181A>C (p.Glu1394Ala) c.4241A>C (p.Glu1414Ala) c.4136A>C (p.Glu1379Ala) | gnomAD v4 |
2 | g.26467397C>A | CA346137250 | OTOF | c.4195G>T (p.Glu1399Ter) c.1894G>T (p.Glu632Ter) c.1954G>T (p.Glu652Ter) c.2125G>T (p.Glu709Ter) c.4180G>T (p.Glu1394Ter) c.4240G>T (p.Glu1414Ter) c.4135G>T (p.Glu1379Ter) | |
2 | g.26467397C= | CA1239818449 | OTOF | c.4195G= (p.Glu1399=) c.1894G= (p.Glu632=) c.1954G= (p.Glu652=) c.2125G= (p.Glu709=) c.4180G= (p.Glu1394=) c.4240G= (p.Glu1414=) c.4135G= (p.Glu1379=) | |
2 | g.26467397C>G | CA346137251 | OTOF | c.4195G>C (p.Glu1399Gln) c.1894G>C (p.Glu632Gln) c.1954G>C (p.Glu652Gln) c.2125G>C (p.Glu709Gln) c.4180G>C (p.Glu1394Gln) c.4240G>C (p.Glu1414Gln) c.4135G>C (p.Glu1379Gln) | gnomAD v4 |
2 | g.26467397C>T | CA1563259 | OTOF | c.4195G>A (p.Glu1399Lys) c.1894G>A (p.Glu632Lys) c.1954G>A (p.Glu652Lys) c.2125G>A (p.Glu709Lys) c.4180G>A (p.Glu1394Lys) c.4240G>A (p.Glu1414Lys) c.4135G>A (p.Glu1379Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
2 | g.26467398G>A | CA1563260 | OTOF | c.4194C>T (p.Pro1398=) c.1893C>T (p.Pro631=) c.1953C>T (p.Pro651=) c.2124C>T (p.Pro708=) c.4179C>T (p.Pro1393=) c.4239C>T (p.Pro1413=) c.4134C>T (p.Pro1378=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
2 | g.26467398G>C | CA425207399 | OTOF | c.4194C>G (p.Pro1398=) c.1893C>G (p.Pro631=) c.1953C>G (p.Pro651=) c.2124C>G (p.Pro708=) c.4179C>G (p.Pro1393=) c.4239C>G (p.Pro1413=) c.4134C>G (p.Pro1378=) | |
2 | g.26467398G= | CA1239818456 | OTOF | c.4194C= (p.Pro1398=) c.1893C= (p.Pro631=) c.1953C= (p.Pro651=) c.2124C= (p.Pro708=) c.4179C= (p.Pro1393=) c.4239C= (p.Pro1413=) c.4134C= (p.Pro1378=) | |
2 | g.26467398G>T | CA425207398 | OTOF | c.4194C>A (p.Pro1398=) c.1893C>A (p.Pro631=) c.1953C>A (p.Pro651=) c.2124C>A (p.Pro708=) c.4179C>A (p.Pro1393=) c.4239C>A (p.Pro1413=) c.4134C>A (p.Pro1378=) | |
2 | g.26467402del | CA425207397 | OTOF | c.4194del (p.Glu1399ArgfsTer?) c.1893del (p.Glu632ArgfsTer?) c.1953del (p.Glu652ArgfsTer?) c.2124del (p.Glu709ArgfsTer?) c.4179del (p.Glu1394ArgfsTer?) c.4239del (p.Glu1414ArgfsTer?) c.4134del (p.Glu1379ArgfsTer?) | gnomAD v4 COSMIC COSMIC |
2 | g.26467399G>A | CA1563261 | OTOF | c.4193C>T (p.Pro1398Leu) c.1892C>T (p.Pro631Leu) c.1952C>T (p.Pro651Leu) c.2123C>T (p.Pro708Leu) c.4178C>T (p.Pro1393Leu) c.4238C>T (p.Pro1413Leu) c.4133C>T (p.Pro1378Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26467399G>C | CA346137252 | OTOF | c.4193C>G (p.Pro1398Arg) c.1892C>G (p.Pro631Arg) c.1952C>G (p.Pro651Arg) c.2123C>G (p.Pro708Arg) c.4178C>G (p.Pro1393Arg) c.4238C>G (p.Pro1413Arg) c.4133C>G (p.Pro1378Arg) | |
2 | g.26467399G= | CA1239818459 | OTOF | c.4193C= (p.Pro1398=) c.1892C= (p.Pro631=) c.1952C= (p.Pro651=) c.2123C= (p.Pro708=) c.4178C= (p.Pro1393=) c.4238C= (p.Pro1413=) c.4133C= (p.Pro1378=) | |
2 | g.26467399G>T | CA346137253 | OTOF | c.4193C>A (p.Pro1398His) c.1892C>A (p.Pro631His) c.1952C>A (p.Pro651His) c.2123C>A (p.Pro708His) c.4178C>A (p.Pro1393His) c.4238C>A (p.Pro1413His) c.4133C>A (p.Pro1378His) | |
2 | g.26467400G>A | CA346137255 | OTOF | c.4192C>T (p.Pro1398Ser) c.1891C>T (p.Pro631Ser) c.1951C>T (p.Pro651Ser) c.2122C>T (p.Pro708Ser) c.4177C>T (p.Pro1393Ser) c.4237C>T (p.Pro1413Ser) c.4132C>T (p.Pro1378Ser) | dbSNP gnomAD v4 |
2 | g.26467400G>C | CA346137256 | OTOF | c.4192C>G (p.Pro1398Ala) c.1891C>G (p.Pro631Ala) c.1951C>G (p.Pro651Ala) c.2122C>G (p.Pro708Ala) c.4177C>G (p.Pro1393Ala) c.4237C>G (p.Pro1413Ala) c.4132C>G (p.Pro1378Ala) | |
2 | g.26467400G= | CA1239818460 | OTOF | c.4192C= (p.Pro1398=) c.1891C= (p.Pro631=) c.1951C= (p.Pro651=) c.2122C= (p.Pro708=) c.4177C= (p.Pro1393=) c.4237C= (p.Pro1413=) c.4132C= (p.Pro1378=) | |
2 | g.26467400G>T | CA346137254 | OTOF | c.4192C>A (p.Pro1398Thr) c.1891C>A (p.Pro631Thr) c.1951C>A (p.Pro651Thr) c.2122C>A (p.Pro708Thr) c.4177C>A (p.Pro1393Thr) c.4237C>A (p.Pro1413Thr) c.4132C>A (p.Pro1378Thr) | |
2 | g.26467401G>A | CA425207401 | OTOF | c.4191C>T (p.Ala1397=) c.1890C>T (p.Ala630=) c.1950C>T (p.Ala650=) c.2121C>T (p.Ala707=) c.4176C>T (p.Ala1392=) c.4236C>T (p.Ala1412=) c.4131C>T (p.Ala1377=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26467401G>C | CA425207403 | OTOF | c.4191C>G (p.Ala1397=) c.1890C>G (p.Ala630=) c.1950C>G (p.Ala650=) c.2121C>G (p.Ala707=) c.4176C>G (p.Ala1392=) c.4236C>G (p.Ala1412=) c.4131C>G (p.Ala1377=) | |
2 | g.26467401G= | CA1239818462 | OTOF | c.4191C= (p.Ala1397=) c.1890C= (p.Ala630=) c.1950C= (p.Ala650=) c.2121C= (p.Ala707=) c.4176C= (p.Ala1392=) c.4236C= (p.Ala1412=) c.4131C= (p.Ala1377=) | |
2 | g.26467401G>T | CA425207404 | OTOF | c.4191C>A (p.Ala1397=) c.1890C>A (p.Ala630=) c.1950C>A (p.Ala650=) c.2121C>A (p.Ala707=) c.4176C>A (p.Ala1392=) c.4236C>A (p.Ala1412=) c.4131C>A (p.Ala1377=) | |
2 | g.26467402G>A | CA346137257 | OTOF | c.4190C>T (p.Ala1397Val) c.1889C>T (p.Ala630Val) c.1949C>T (p.Ala650Val) c.2120C>T (p.Ala707Val) c.4175C>T (p.Ala1392Val) c.4235C>T (p.Ala1412Val) c.4130C>T (p.Ala1377Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26467402G>C | CA44413980 | OTOF | c.4190C>G (p.Ala1397Gly) c.1889C>G (p.Ala630Gly) c.1949C>G (p.Ala650Gly) c.2120C>G (p.Ala707Gly) c.4175C>G (p.Ala1392Gly) c.4235C>G (p.Ala1412Gly) c.4130C>G (p.Ala1377Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26467402G= | CA1239818464 | OTOF | c.4190C= (p.Ala1397=) c.1889C= (p.Ala630=) c.1949C= (p.Ala650=) c.2120C= (p.Ala707=) c.4175C= (p.Ala1392=) c.4235C= (p.Ala1412=) c.4130C= (p.Ala1377=) | |
2 | g.26467402G>T | CA346137258 | OTOF | c.4190C>A (p.Ala1397Asp) c.1889C>A (p.Ala630Asp) c.1949C>A (p.Ala650Asp) c.2120C>A (p.Ala707Asp) c.4175C>A (p.Ala1392Asp) c.4235C>A (p.Ala1412Asp) c.4130C>A (p.Ala1377Asp) | |
2 | g.26467403C>A | CA346137259 | OTOF | c.4189G>T (p.Ala1397Ser) c.1888G>T (p.Ala630Ser) c.1948G>T (p.Ala650Ser) c.2119G>T (p.Ala707Ser) c.4174G>T (p.Ala1392Ser) c.4234G>T (p.Ala1412Ser) c.4129G>T (p.Ala1377Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26467403C= | CA1239818465 | OTOF | c.4189G= (p.Ala1397=) c.1888G= (p.Ala630=) c.1948G= (p.Ala650=) c.2119G= (p.Ala707=) c.4174G= (p.Ala1392=) c.4234G= (p.Ala1412=) c.4129G= (p.Ala1377=) | |
2 | g.26467403C>G | CA346137261 | OTOF | c.4189G>C (p.Ala1397Pro) c.1888G>C (p.Ala630Pro) c.1948G>C (p.Ala650Pro) c.2119G>C (p.Ala707Pro) c.4174G>C (p.Ala1392Pro) c.4234G>C (p.Ala1412Pro) c.4129G>C (p.Ala1377Pro) | |
2 | g.26467403C>T | CA346137260 | OTOF | c.4189G>A (p.Ala1397Thr) c.1888G>A (p.Ala630Thr) c.1948G>A (p.Ala650Thr) c.2119G>A (p.Ala707Thr) c.4174G>A (p.Ala1392Thr) c.4234G>A (p.Ala1412Thr) c.4129G>A (p.Ala1377Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26467404C>A | CA346137262 | OTOF | c.4188G>T (p.Glu1396Asp) c.1887G>T (p.Glu629Asp) c.1947G>T (p.Glu649Asp) c.2118G>T (p.Glu706Asp) c.4173G>T (p.Glu1391Asp) c.4233G>T (p.Glu1411Asp) c.4128G>T (p.Glu1376Asp) | |
2 | g.26467404C= | CA1239818467 | OTOF | c.4188G= (p.Glu1396=) c.1887G= (p.Glu629=) c.1947G= (p.Glu649=) c.2118G= (p.Glu706=) c.4173G= (p.Glu1391=) c.4233G= (p.Glu1411=) c.4128G= (p.Glu1376=) | |
2 | g.26467404C>G | CA346137263 | OTOF | c.4188G>C (p.Glu1396Asp) c.1887G>C (p.Glu629Asp) c.1947G>C (p.Glu649Asp) c.2118G>C (p.Glu706Asp) c.4173G>C (p.Glu1391Asp) c.4233G>C (p.Glu1411Asp) c.4128G>C (p.Glu1376Asp) | |
2 | g.26467404C>T | CA1563262 | OTOF | c.4188G>A (p.Glu1396=) c.1887G>A (p.Glu629=) c.1947G>A (p.Glu649=) c.2118G>A (p.Glu706=) c.4173G>A (p.Glu1391=) c.4233G>A (p.Glu1411=) c.4128G>A (p.Glu1376=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26467405T>A | CA346137264 | OTOF | c.4187A>T (p.Glu1396Val) c.1886A>T (p.Glu629Val) c.1946A>T (p.Glu649Val) c.2117A>T (p.Glu706Val) c.4172A>T (p.Glu1391Val) c.4232A>T (p.Glu1411Val) c.4127A>T (p.Glu1376Val) | |
2 | g.26467405T>C | CA346137266 | OTOF | c.4187A>G (p.Glu1396Gly) c.1886A>G (p.Glu629Gly) c.1946A>G (p.Glu649Gly) c.2117A>G (p.Glu706Gly) c.4172A>G (p.Glu1391Gly) c.4232A>G (p.Glu1411Gly) c.4127A>G (p.Glu1376Gly) | |
2 | g.26467405T>G | CA346137265 | OTOF | c.4187A>C (p.Glu1396Ala) c.1886A>C (p.Glu629Ala) c.1946A>C (p.Glu649Ala) c.2117A>C (p.Glu706Ala) c.4172A>C (p.Glu1391Ala) c.4232A>C (p.Glu1411Ala) c.4127A>C (p.Glu1376Ala) | |
2 | g.26467406C>A | CA346137267 | OTOF | c.4186G>T (p.Glu1396Ter) c.1885G>T (p.Glu629Ter) c.1945G>T (p.Glu649Ter) c.2116G>T (p.Glu706Ter) c.4171G>T (p.Glu1391Ter) c.4231G>T (p.Glu1411Ter) c.4126G>T (p.Glu1376Ter) | |
2 | g.26467406C= | CA1239818469 | OTOF | c.4186G= (p.Glu1396=) c.1885G= (p.Glu629=) c.1945G= (p.Glu649=) c.2116G= (p.Glu706=) c.4171G= (p.Glu1391=) c.4231G= (p.Glu1411=) c.4126G= (p.Glu1376=) | |
2 | g.26467406C>G | CA346137268 | OTOF | c.4186G>C (p.Glu1396Gln) c.1885G>C (p.Glu629Gln) c.1945G>C (p.Glu649Gln) c.2116G>C (p.Glu706Gln) c.4171G>C (p.Glu1391Gln) c.4231G>C (p.Glu1411Gln) c.4126G>C (p.Glu1376Gln) | dbSNP |
2 | g.26467406C>T | CA1563263 | OTOF | c.4186G>A (p.Glu1396Lys) c.1885G>A (p.Glu629Lys) c.1945G>A (p.Glu649Lys) c.2116G>A (p.Glu706Lys) c.4171G>A (p.Glu1391Lys) c.4231G>A (p.Glu1411Lys) c.4126G>A (p.Glu1376Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26467407G>A | CA1563264 | OTOF | c.4185C>T (p.Ser1395=) c.1884C>T (p.Ser628=) c.1944C>T (p.Ser648=) c.2115C>T (p.Ser705=) c.4170C>T (p.Ser1390=) c.4230C>T (p.Ser1410=) c.4125C>T (p.Ser1375=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.26467407G>C | CA425207406 | OTOF | c.4185C>G (p.Ser1395=) c.1884C>G (p.Ser628=) c.1944C>G (p.Ser648=) c.2115C>G (p.Ser705=) c.4170C>G (p.Ser1390=) c.4230C>G (p.Ser1410=) c.4125C>G (p.Ser1375=) | gnomAD v4 |
2 | g.26467407G= | CA1239818473 | OTOF | c.4185C= (p.Ser1395=) c.1884C= (p.Ser628=) c.1944C= (p.Ser648=) c.2115C= (p.Ser705=) c.4170C= (p.Ser1390=) c.4230C= (p.Ser1410=) c.4125C= (p.Ser1375=) | |
2 | g.26467407G>T | CA425207407 | OTOF | c.4185C>A (p.Ser1395=) c.1884C>A (p.Ser628=) c.1944C>A (p.Ser648=) c.2115C>A (p.Ser705=) c.4170C>A (p.Ser1390=) c.4230C>A (p.Ser1410=) c.4125C>A (p.Ser1375=) | |
2 | g.26467408G>A | CA346137270 | OTOF | c.4184C>T (p.Ser1395Phe) c.1883C>T (p.Ser628Phe) c.1943C>T (p.Ser648Phe) c.2114C>T (p.Ser705Phe) c.4169C>T (p.Ser1390Phe) c.4229C>T (p.Ser1410Phe) c.4124C>T (p.Ser1375Phe) | |
2 | g.26467408G>C | CA346137269 | OTOF | c.4184C>G (p.Ser1395Cys) c.1883C>G (p.Ser628Cys) c.1943C>G (p.Ser648Cys) c.2114C>G (p.Ser705Cys) c.4169C>G (p.Ser1390Cys) c.4229C>G (p.Ser1410Cys) c.4124C>G (p.Ser1375Cys) | |
2 | g.26467408G>T | CA346137271 | OTOF | c.4184C>A (p.Ser1395Tyr) c.1883C>A (p.Ser628Tyr) c.1943C>A (p.Ser648Tyr) c.2114C>A (p.Ser705Tyr) c.4169C>A (p.Ser1390Tyr) c.4229C>A (p.Ser1410Tyr) c.4124C>A (p.Ser1375Tyr) | |
2 | g.26467409A= | CA1239818477 | OTOF | c.4183T= (p.Ser1395=) c.1882T= (p.Ser628=) c.1942T= (p.Ser648=) c.2113T= (p.Ser705=) c.4168T= (p.Ser1390=) c.4228T= (p.Ser1410=) c.4123T= (p.Ser1375=) | |
2 | g.26467409A>C | CA1563265 | OTOF | c.4183T>G (p.Ser1395Ala) c.1882T>G (p.Ser628Ala) c.1942T>G (p.Ser648Ala) c.2113T>G (p.Ser705Ala) c.4168T>G (p.Ser1390Ala) c.4228T>G (p.Ser1410Ala) c.4123T>G (p.Ser1375Ala) | dbSNP ExAC |
2 | g.26467409A>G | CA346137272 | OTOF | c.4183T>C (p.Ser1395Pro) c.1882T>C (p.Ser628Pro) c.1942T>C (p.Ser648Pro) c.2113T>C (p.Ser705Pro) c.4168T>C (p.Ser1390Pro) c.4228T>C (p.Ser1410Pro) c.4123T>C (p.Ser1375Pro) | |
2 | g.26467409A>T | CA346137273 | OTOF | c.4183T>A (p.Ser1395Thr) c.1882T>A (p.Ser628Thr) c.1942T>A (p.Ser648Thr) c.2113T>A (p.Ser705Thr) c.4168T>A (p.Ser1390Thr) c.4228T>A (p.Ser1410Thr) c.4123T>A (p.Ser1375Thr) | |
2 | g.26467410C>A | CA425207410 | OTOF | c.4182G>T (p.Gly1394=) c.1881G>T (p.Gly627=) c.1941G>T (p.Gly647=) c.2112G>T (p.Gly704=) c.4167G>T (p.Gly1389=) c.4227G>T (p.Gly1409=) c.4122G>T (p.Gly1374=) | |
2 | g.26467410C>G | CA425207408 | OTOF | c.4182G>C (p.Gly1394=) c.1881G>C (p.Gly627=) c.1941G>C (p.Gly647=) c.2112G>C (p.Gly704=) c.4167G>C (p.Gly1389=) c.4227G>C (p.Gly1409=) c.4122G>C (p.Gly1374=) | |
2 | g.26467410C>T | CA425207409 | OTOF | c.4182G>A (p.Gly1394=) c.1881G>A (p.Gly627=) c.1941G>A (p.Gly647=) c.2112G>A (p.Gly704=) c.4167G>A (p.Gly1389=) c.4227G>A (p.Gly1409=) c.4122G>A (p.Gly1374=) | |
2 | g.26467411C>A | CA346137274 | OTOF | c.4181G>T (p.Gly1394Val) c.1880G>T (p.Gly627Val) c.1940G>T (p.Gly647Val) c.2111G>T (p.Gly704Val) c.4166G>T (p.Gly1389Val) c.4226G>T (p.Gly1409Val) c.4121G>T (p.Gly1374Val) | |
2 | g.26467411C= | CA1239818479 | OTOF | c.4181G= (p.Gly1394=) c.1880G= (p.Gly627=) c.1940G= (p.Gly647=) c.2111G= (p.Gly704=) c.4166G= (p.Gly1389=) c.4226G= (p.Gly1409=) c.4121G= (p.Gly1374=) | |
2 | g.26467411C>G | CA346137275 | OTOF | c.4181G>C (p.Gly1394Ala) c.1880G>C (p.Gly627Ala) c.1940G>C (p.Gly647Ala) c.2111G>C (p.Gly704Ala) c.4166G>C (p.Gly1389Ala) c.4226G>C (p.Gly1409Ala) c.4121G>C (p.Gly1374Ala) | |
2 | g.26467411C>T | CA1563266 | OTOF | c.4181G>A (p.Gly1394Glu) c.1880G>A (p.Gly627Glu) c.1940G>A (p.Gly647Glu) c.2111G>A (p.Gly704Glu) c.4166G>A (p.Gly1389Glu) c.4226G>A (p.Gly1409Glu) c.4121G>A (p.Gly1374Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26467412C>A | CA346137276 | OTOF | c.4180G>T (p.Gly1394Trp) c.1879G>T (p.Gly627Trp) c.1939G>T (p.Gly647Trp) c.2110G>T (p.Gly704Trp) c.4165G>T (p.Gly1389Trp) c.4225G>T (p.Gly1409Trp) c.4120G>T (p.Gly1374Trp) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26467412C= | CA1239818480 | OTOF | c.4180G= (p.Gly1394=) c.1879G= (p.Gly627=) c.1939G= (p.Gly647=) c.2110G= (p.Gly704=) c.4165G= (p.Gly1389=) c.4225G= (p.Gly1409=) c.4120G= (p.Gly1374=) | |
2 | g.26467412C>G | CA346137277 | OTOF | c.4180G>C (p.Gly1394Arg) c.1879G>C (p.Gly627Arg) c.1939G>C (p.Gly647Arg) c.2110G>C (p.Gly704Arg) c.4165G>C (p.Gly1389Arg) c.4225G>C (p.Gly1409Arg) c.4120G>C (p.Gly1374Arg) | |
2 | g.26467412C>T | CA346137278 | OTOF | c.4180G>A (p.Gly1394Arg) c.1879G>A (p.Gly627Arg) c.1939G>A (p.Gly647Arg) c.2110G>A (p.Gly704Arg) c.4165G>A (p.Gly1389Arg) c.4225G>A (p.Gly1409Arg) c.4120G>A (p.Gly1374Arg) | gnomAD v4 |
2 | g.26467413C>A | CA346137279 | OTOF | c.4179G>T (p.Gln1393His) c.1878G>T (p.Gln626His) c.1938G>T (p.Gln646His) c.2109G>T (p.Gln703His) c.4164G>T (p.Gln1388His) c.4224G>T (p.Gln1408His) c.4119G>T (p.Gln1373His) | |
2 | g.26467413C= | CA1239818482 | OTOF | c.4179G= (p.Gln1393=) c.1878G= (p.Gln626=) c.1938G= (p.Gln646=) c.2109G= (p.Gln703=) c.4164G= (p.Gln1388=) c.4224G= (p.Gln1408=) c.4119G= (p.Gln1373=) | |
2 | g.26467413C>G | CA346137280 | OTOF | c.4179G>C (p.Gln1393His) c.1878G>C (p.Gln626His) c.1938G>C (p.Gln646His) c.2109G>C (p.Gln703His) c.4164G>C (p.Gln1388His) c.4224G>C (p.Gln1408His) c.4119G>C (p.Gln1373His) | gnomAD v4 |
2 | g.26467413C>T | CA425207414 | OTOF | c.4179G>A (p.Gln1393=) c.1878G>A (p.Gln626=) c.1938G>A (p.Gln646=) c.2109G>A (p.Gln703=) c.4164G>A (p.Gln1388=) c.4224G>A (p.Gln1408=) c.4119G>A (p.Gln1373=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.26467414T>A | CA346137283 | OTOF | c.4178A>T (p.Gln1393Leu) c.1877A>T (p.Gln626Leu) c.1937A>T (p.Gln646Leu) c.2108A>T (p.Gln703Leu) c.4163A>T (p.Gln1388Leu) c.4223A>T (p.Gln1408Leu) c.4118A>T (p.Gln1373Leu) | |
2 | g.26467414T>C | CA346137282 | OTOF | c.4178A>G (p.Gln1393Arg) c.1877A>G (p.Gln626Arg) c.1937A>G (p.Gln646Arg) c.2108A>G (p.Gln703Arg) c.4163A>G (p.Gln1388Arg) c.4223A>G (p.Gln1408Arg) c.4118A>G (p.Gln1373Arg) | |
2 | g.26467414T>G | CA346137281 | OTOF | c.4178A>C (p.Gln1393Pro) c.1877A>C (p.Gln626Pro) c.1937A>C (p.Gln646Pro) c.2108A>C (p.Gln703Pro) c.4163A>C (p.Gln1388Pro) c.4223A>C (p.Gln1408Pro) c.4118A>C (p.Gln1373Pro) | |
2 | g.26467415G>A | CA346137284 | OTOF | c.4177C>T (p.Gln1393Ter) c.1876C>T (p.Gln626Ter) c.1936C>T (p.Gln646Ter) c.2107C>T (p.Gln703Ter) c.4162C>T (p.Gln1388Ter) c.4222C>T (p.Gln1408Ter) c.4117C>T (p.Gln1373Ter) | |
2 | g.26467415G>C | CA346137285 | OTOF | c.4177C>G (p.Gln1393Glu) c.1876C>G (p.Gln626Glu) c.1936C>G (p.Gln646Glu) c.2107C>G (p.Gln703Glu) c.4162C>G (p.Gln1388Glu) c.4222C>G (p.Gln1408Glu) c.4117C>G (p.Gln1373Glu) | |
2 | g.26467415G>T | CA346137286 | OTOF | c.4177C>A (p.Gln1393Lys) c.1876C>A (p.Gln626Lys) c.1936C>A (p.Gln646Lys) c.2107C>A (p.Gln703Lys) c.4162C>A (p.Gln1388Lys) c.4222C>A (p.Gln1408Lys) c.4117C>A (p.Gln1373Lys) | |
2 | g.26467416G>A | CA425207416 | OTOF | c.4176C>T (p.Gly1392=) c.1875C>T (p.Gly625=) c.1935C>T (p.Gly645=) c.2106C>T (p.Gly702=) c.4161C>T (p.Gly1387=) c.4221C>T (p.Gly1407=) c.4116C>T (p.Gly1372=) | dbSNP gnomAD v4 |
2 | g.26467416G>C | CA425207415 | OTOF | c.4176C>G (p.Gly1392=) c.1875C>G (p.Gly625=) c.1935C>G (p.Gly645=) c.2106C>G (p.Gly702=) c.4161C>G (p.Gly1387=) c.4221C>G (p.Gly1407=) c.4116C>G (p.Gly1372=) | |
2 | g.26467416G= | CA1239818483 | OTOF | c.4176C= (p.Gly1392=) c.1875C= (p.Gly625=) c.1935C= (p.Gly645=) c.2106C= (p.Gly702=) c.4161C= (p.Gly1387=) c.4221C= (p.Gly1407=) c.4116C= (p.Gly1372=) | |
2 | g.26467416G>T | CA425207417 | OTOF | c.4176C>A (p.Gly1392=) c.1875C>A (p.Gly625=) c.1935C>A (p.Gly645=) c.2106C>A (p.Gly702=) c.4161C>A (p.Gly1387=) c.4221C>A (p.Gly1407=) c.4116C>A (p.Gly1372=) | |
2 | g.26467417C>A | CA346137287 | OTOF | c.4175G>T (p.Gly1392Val) c.1874G>T (p.Gly625Val) c.1934G>T (p.Gly645Val) c.2105G>T (p.Gly702Val) c.4160G>T (p.Gly1387Val) c.4220G>T (p.Gly1407Val) c.4115G>T (p.Gly1372Val) | |
2 | g.26467417C>G | CA346137288 | OTOF | c.4175G>C (p.Gly1392Ala) c.1874G>C (p.Gly625Ala) c.1934G>C (p.Gly645Ala) c.2105G>C (p.Gly702Ala) c.4160G>C (p.Gly1387Ala) c.4220G>C (p.Gly1407Ala) c.4115G>C (p.Gly1372Ala) | |
2 | g.26467417C>T | CA346137289 | OTOF | c.4175G>A (p.Gly1392Asp) c.1874G>A (p.Gly625Asp) c.1934G>A (p.Gly645Asp) c.2105G>A (p.Gly702Asp) c.4160G>A (p.Gly1387Asp) c.4220G>A (p.Gly1407Asp) c.4115G>A (p.Gly1372Asp) | gnomAD v4 |
2 | g.26467418C>A | CA346137290 | OTOF | c.4174G>T (p.Gly1392Cys) c.1873G>T (p.Gly625Cys) c.1933G>T (p.Gly645Cys) c.2104G>T (p.Gly702Cys) c.4159G>T (p.Gly1387Cys) c.4219G>T (p.Gly1407Cys) c.4114G>T (p.Gly1372Cys) | |
2 | g.26467418C= | CA1239818485 | OTOF | c.4174G= (p.Gly1392=) c.1873G= (p.Gly625=) c.1933G= (p.Gly645=) c.2104G= (p.Gly702=) c.4159G= (p.Gly1387=) c.4219G= (p.Gly1407=) c.4114G= (p.Gly1372=) | |
2 | g.26467418C>G | CA1563267 | OTOF | c.4174G>C (p.Gly1392Arg) c.1873G>C (p.Gly625Arg) c.1933G>C (p.Gly645Arg) c.2104G>C (p.Gly702Arg) c.4159G>C (p.Gly1387Arg) c.4219G>C (p.Gly1407Arg) c.4114G>C (p.Gly1372Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26467418C>T | CA346137291 | OTOF | c.4174G>A (p.Gly1392Ser) c.1873G>A (p.Gly625Ser) c.1933G>A (p.Gly645Ser) c.2104G>A (p.Gly702Ser) c.4159G>A (p.Gly1387Ser) c.4219G>A (p.Gly1407Ser) c.4114G>A (p.Gly1372Ser) | COSMIC COSMIC COSMIC |
2 | g.26467419A>C | CA425207419 | OTOF | c.4173T>G (p.Ser1391=) c.1872T>G (p.Ser624=) c.1932T>G (p.Ser644=) c.2103T>G (p.Ser701=) c.4158T>G (p.Ser1386=) c.4218T>G (p.Ser1406=) c.4113T>G (p.Ser1371=) | |
2 | g.26467419A>G | CA425207420 | OTOF | c.4173T>C (p.Ser1391=) c.1872T>C (p.Ser624=) c.1932T>C (p.Ser644=) c.2103T>C (p.Ser701=) c.4158T>C (p.Ser1386=) c.4218T>C (p.Ser1406=) c.4113T>C (p.Ser1371=) | |
2 | g.26467419A>T | CA425207421 | OTOF | c.4173T>A (p.Ser1391=) c.1872T>A (p.Ser624=) c.1932T>A (p.Ser644=) c.2103T>A (p.Ser701=) c.4158T>A (p.Ser1386=) c.4218T>A (p.Ser1406=) c.4113T>A (p.Ser1371=) | |
2 | g.26467420G>A | CA346137292 | OTOF | c.4172C>T (p.Ser1391Phe) c.1871C>T (p.Ser624Phe) c.1931C>T (p.Ser644Phe) c.2102C>T (p.Ser701Phe) c.4157C>T (p.Ser1386Phe) c.4217C>T (p.Ser1406Phe) c.4112C>T (p.Ser1371Phe) | |
2 | g.26467420G>C | CA346137293 | OTOF | c.4172C>G (p.Ser1391Cys) c.1871C>G (p.Ser624Cys) c.1931C>G (p.Ser644Cys) c.2102C>G (p.Ser701Cys) c.4157C>G (p.Ser1386Cys) c.4217C>G (p.Ser1406Cys) c.4112C>G (p.Ser1371Cys) | |
2 | g.26467420G>T | CA346137294 | OTOF | c.4172C>A (p.Ser1391Tyr) c.1871C>A (p.Ser624Tyr) c.1931C>A (p.Ser644Tyr) c.2102C>A (p.Ser701Tyr) c.4157C>A (p.Ser1386Tyr) c.4217C>A (p.Ser1406Tyr) c.4112C>A (p.Ser1371Tyr) | |
2 | g.26467421A= | CA1239818487 | OTOF | c.4171T= (p.Ser1391=) c.1870T= (p.Ser624=) c.1930T= (p.Ser644=) c.2101T= (p.Ser701=) c.4156T= (p.Ser1386=) c.4216T= (p.Ser1406=) c.4111T= (p.Ser1371=) | |
2 | g.26467421A>C | CA346137296 | OTOF | c.4171T>G (p.Ser1391Ala) c.1870T>G (p.Ser624Ala) c.1930T>G (p.Ser644Ala) c.2101T>G (p.Ser701Ala) c.4156T>G (p.Ser1386Ala) c.4216T>G (p.Ser1406Ala) c.4111T>G (p.Ser1371Ala) | |
2 | g.26467421A>G | CA1563268 | OTOF | c.4171T>C (p.Ser1391Pro) c.1870T>C (p.Ser624Pro) c.1930T>C (p.Ser644Pro) c.2101T>C (p.Ser701Pro) c.4156T>C (p.Ser1386Pro) c.4216T>C (p.Ser1406Pro) c.4111T>C (p.Ser1371Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26467421A>T | CA346137295 | OTOF | c.4171T>A (p.Ser1391Thr) c.1870T>A (p.Ser624Thr) c.1930T>A (p.Ser644Thr) c.2101T>A (p.Ser701Thr) c.4156T>A (p.Ser1386Thr) c.4216T>A (p.Ser1406Thr) c.4111T>A (p.Ser1371Thr) | |
2 | g.26467422G>A | CA425207422 | OTOF | c.4170C>T (p.Gly1390=) c.1869C>T (p.Gly623=) c.1929C>T (p.Gly643=) c.2100C>T (p.Gly700=) c.4155C>T (p.Gly1385=) c.4215C>T (p.Gly1405=) c.4110C>T (p.Gly1370=) | |
2 | g.26467422G>C | CA425207423 | OTOF | c.4170C>G (p.Gly1390=) c.1869C>G (p.Gly623=) c.1929C>G (p.Gly643=) c.2100C>G (p.Gly700=) c.4155C>G (p.Gly1385=) c.4215C>G (p.Gly1405=) c.4110C>G (p.Gly1370=) | |
2 | g.26467422G>T | CA425207424 | OTOF | c.4170C>A (p.Gly1390=) c.1869C>A (p.Gly623=) c.1929C>A (p.Gly643=) c.2100C>A (p.Gly700=) c.4155C>A (p.Gly1385=) c.4215C>A (p.Gly1405=) c.4110C>A (p.Gly1370=) | |
2 | g.26467423C>A | CA346137297 | OTOF | c.4169G>T (p.Gly1390Val) c.1868G>T (p.Gly623Val) c.1928G>T (p.Gly643Val) c.2099G>T (p.Gly700Val) c.4154G>T (p.Gly1385Val) c.4214G>T (p.Gly1405Val) c.4109G>T (p.Gly1370Val) | |
2 | g.26467423C>G | CA346137298 | OTOF | c.4169G>C (p.Gly1390Ala) c.1868G>C (p.Gly623Ala) c.1928G>C (p.Gly643Ala) c.2099G>C (p.Gly700Ala) c.4154G>C (p.Gly1385Ala) c.4214G>C (p.Gly1405Ala) c.4109G>C (p.Gly1370Ala) | |
2 | g.26467423C>T | CA346137299 | OTOF | c.4169G>A (p.Gly1390Asp) c.1868G>A (p.Gly623Asp) c.1928G>A (p.Gly643Asp) c.2099G>A (p.Gly700Asp) c.4154G>A (p.Gly1385Asp) c.4214G>A (p.Gly1405Asp) c.4109G>A (p.Gly1370Asp) | |
2 | g.26467424C>A | CA346137300 | OTOF | c.4168G>T (p.Gly1390Cys) c.1867G>T (p.Gly623Cys) c.1927G>T (p.Gly643Cys) c.2098G>T (p.Gly700Cys) c.4153G>T (p.Gly1385Cys) c.4213G>T (p.Gly1405Cys) c.4108G>T (p.Gly1370Cys) | |
2 | g.26467424C>G | CA346137301 | OTOF | c.4168G>C (p.Gly1390Arg) c.1867G>C (p.Gly623Arg) c.1927G>C (p.Gly643Arg) c.2098G>C (p.Gly700Arg) c.4153G>C (p.Gly1385Arg) c.4213G>C (p.Gly1405Arg) c.4108G>C (p.Gly1370Arg) | |
2 | g.26467424C>T | CA346137302 | OTOF | c.4168G>A (p.Gly1390Ser) c.1867G>A (p.Gly623Ser) c.1927G>A (p.Gly643Ser) c.2098G>A (p.Gly700Ser) c.4153G>A (p.Gly1385Ser) c.4213G>A (p.Gly1405Ser) c.4108G>A (p.Gly1370Ser) | gnomAD v4 |
2 | g.26467424_26467427dup | CA2576699133 | OTOF | c.4165_4168dup (p.Gly1390ValfsTer18) c.1864_1867dup (p.Gly623ValfsTer18) c.1924_1927dup (p.Gly643ValfsTer18) c.2095_2098dup (p.Gly700ValfsTer18) c.4150_4153dup (p.Gly1385ValfsTer18) c.4210_4213dup (p.Gly1405ValfsTer18) c.4105_4108dup (p.Gly1370ValfsTer18) | |
2 | g.26467425A>C | CA425207428 | OTOF | c.4167T>G (p.Ser1389=) c.1866T>G (p.Ser622=) c.1926T>G (p.Ser642=) c.2097T>G (p.Ser699=) c.4152T>G (p.Ser1384=) c.4212T>G (p.Ser1404=) c.4107T>G (p.Ser1369=) | |
2 | g.26467425A>G | CA425207429 | OTOF | c.4167T>C (p.Ser1389=) c.1866T>C (p.Ser622=) c.1926T>C (p.Ser642=) c.2097T>C (p.Ser699=) c.4152T>C (p.Ser1384=) c.4212T>C (p.Ser1404=) c.4107T>C (p.Ser1369=) | |
2 | g.26467425A>T | CA425207430 | OTOF | c.4167T>A (p.Ser1389=) c.1866T>A (p.Ser622=) c.1926T>A (p.Ser642=) c.2097T>A (p.Ser699=) c.4152T>A (p.Ser1384=) c.4212T>A (p.Ser1404=) c.4107T>A (p.Ser1369=) | |
2 | g.26467426G>A | CA346137305 | OTOF | c.4166C>T (p.Ser1389Phe) c.1865C>T (p.Ser622Phe) c.1925C>T (p.Ser642Phe) c.2096C>T (p.Ser699Phe) c.4151C>T (p.Ser1384Phe) c.4211C>T (p.Ser1404Phe) c.4106C>T (p.Ser1369Phe) | gnomAD v4 |
2 | g.26467426G>C | CA346137303 | OTOF | c.4166C>G (p.Ser1389Cys) c.1865C>G (p.Ser622Cys) c.1925C>G (p.Ser642Cys) c.2096C>G (p.Ser699Cys) c.4151C>G (p.Ser1384Cys) c.4211C>G (p.Ser1404Cys) c.4106C>G (p.Ser1369Cys) | gnomAD v4 |
2 | g.26467426G>T | CA346137304 | OTOF | c.4166C>A (p.Ser1389Tyr) c.1865C>A (p.Ser622Tyr) c.1925C>A (p.Ser642Tyr) c.2096C>A (p.Ser699Tyr) c.4151C>A (p.Ser1384Tyr) c.4211C>A (p.Ser1404Tyr) c.4106C>A (p.Ser1369Tyr) | |
2 | g.26467427A= | CA1239818489 | OTOF | c.4165T= (p.Ser1389=) c.1864T= (p.Ser622=) c.1924T= (p.Ser642=) c.2095T= (p.Ser699=) c.4150T= (p.Ser1384=) c.4210T= (p.Ser1404=) c.4105T= (p.Ser1369=) | |
2 | g.26467427A>C | CA346137306 | OTOF | c.4165T>G (p.Ser1389Ala) c.1864T>G (p.Ser622Ala) c.1924T>G (p.Ser642Ala) c.2095T>G (p.Ser699Ala) c.4150T>G (p.Ser1384Ala) c.4210T>G (p.Ser1404Ala) c.4105T>G (p.Ser1369Ala) | |
2 | g.26467427A>G | CA346137307 | OTOF | c.4165T>C (p.Ser1389Pro) c.1864T>C (p.Ser622Pro) c.1924T>C (p.Ser642Pro) c.2095T>C (p.Ser699Pro) c.4150T>C (p.Ser1384Pro) c.4210T>C (p.Ser1404Pro) c.4105T>C (p.Ser1369Pro) | dbSNP |
2 | g.26467427A>T | CA346137308 | OTOF | c.4165T>A (p.Ser1389Thr) c.1864T>A (p.Ser622Thr) c.1924T>A (p.Ser642Thr) c.2095T>A (p.Ser699Thr) c.4150T>A (p.Ser1384Thr) c.4210T>A (p.Ser1404Thr) c.4105T>A (p.Ser1369Thr) | |
2 | g.26467428G>A | CA425207432 | OTOF | c.4164C>T (p.Ser1388=) c.1863C>T (p.Ser621=) c.1923C>T (p.Ser641=) c.2094C>T (p.Ser698=) c.4149C>T (p.Ser1383=) c.4209C>T (p.Ser1403=) c.4104C>T (p.Ser1368=) | |
2 | g.26467428G>C | CA346137309 | OTOF | c.4164C>G (p.Ser1388Arg) c.1863C>G (p.Ser621Arg) c.1923C>G (p.Ser641Arg) c.2094C>G (p.Ser698Arg) c.4149C>G (p.Ser1383Arg) c.4209C>G (p.Ser1403Arg) c.4104C>G (p.Ser1368Arg) | |
2 | g.26467428G>T | CA346137310 | OTOF | c.4164C>A (p.Ser1388Arg) c.1863C>A (p.Ser621Arg) c.1923C>A (p.Ser641Arg) c.2094C>A (p.Ser698Arg) c.4149C>A (p.Ser1383Arg) c.4209C>A (p.Ser1403Arg) c.4104C>A (p.Ser1368Arg) | |
2 | g.26467429C>A | CA346137311 | OTOF | c.4163G>T (p.Ser1388Ile) c.1862G>T (p.Ser621Ile) c.1922G>T (p.Ser641Ile) c.2093G>T (p.Ser698Ile) c.4148G>T (p.Ser1383Ile) c.4208G>T (p.Ser1403Ile) c.4103G>T (p.Ser1368Ile) | |
2 | g.26467429C= | CA1239818491 | OTOF | c.4163G= (p.Ser1388=) c.1862G= (p.Ser621=) c.1922G= (p.Ser641=) c.2093G= (p.Ser698=) c.4148G= (p.Ser1383=) c.4208G= (p.Ser1403=) c.4103G= (p.Ser1368=) | |
2 | g.26467429C>G | CA346137313 | OTOF | c.4163G>C (p.Ser1388Thr) c.1862G>C (p.Ser621Thr) c.1922G>C (p.Ser641Thr) c.2093G>C (p.Ser698Thr) c.4148G>C (p.Ser1383Thr) c.4208G>C (p.Ser1403Thr) c.4103G>C (p.Ser1368Thr) | dbSNP |
2 | g.26467429C>T | CA346137312 | OTOF | c.4163G>A (p.Ser1388Asn) c.1862G>A (p.Ser621Asn) c.1922G>A (p.Ser641Asn) c.2093G>A (p.Ser698Asn) c.4148G>A (p.Ser1383Asn) c.4208G>A (p.Ser1403Asn) c.4103G>A (p.Ser1368Asn) | gnomAD v4 |
2 | g.26467430T>A | CA346137314 | OTOF | c.4162A>T (p.Ser1388Cys) c.1861A>T (p.Ser621Cys) c.1921A>T (p.Ser641Cys) c.2092A>T (p.Ser698Cys) c.4147A>T (p.Ser1383Cys) c.4207A>T (p.Ser1403Cys) c.4102A>T (p.Ser1368Cys) | |
2 | g.26467430T>C | CA346137315 | OTOF | c.4162A>G (p.Ser1388Gly) c.1861A>G (p.Ser621Gly) c.1921A>G (p.Ser641Gly) c.2092A>G (p.Ser698Gly) c.4147A>G (p.Ser1383Gly) c.4207A>G (p.Ser1403Gly) c.4102A>G (p.Ser1368Gly) | dbSNP |
2 | g.26467430T>G | CA346137316 | OTOF | c.4162A>C (p.Ser1388Arg) c.1861A>C (p.Ser621Arg) c.1921A>C (p.Ser641Arg) c.2092A>C (p.Ser698Arg) c.4147A>C (p.Ser1383Arg) c.4207A>C (p.Ser1403Arg) c.4102A>C (p.Ser1368Arg) | |
2 | g.26467430T= | CA1239818493 | OTOF | c.4162A= (p.Ser1388=) c.1861A= (p.Ser621=) c.1921A= (p.Ser641=) c.2092A= (p.Ser698=) c.4147A= (p.Ser1383=) c.4207A= (p.Ser1403=) c.4102A= (p.Ser1368=) | |
2 | g.26467431C>A | CA346137317 | OTOF | c.4161G>T (p.Gln1387His) c.1860G>T (p.Gln620His) c.1920G>T (p.Gln640His) c.2091G>T (p.Gln697His) c.4146G>T (p.Gln1382His) c.4206G>T (p.Gln1402His) c.4101G>T (p.Gln1367His) | |
2 | g.26467431C>G | CA346137318 | OTOF | c.4161G>C (p.Gln1387His) c.1860G>C (p.Gln620His) c.1920G>C (p.Gln640His) c.2091G>C (p.Gln697His) c.4146G>C (p.Gln1382His) c.4206G>C (p.Gln1402His) c.4101G>C (p.Gln1367His) | COSMIC COSMIC COSMIC |
2 | g.26467431C>T | CA425207436 | OTOF | c.4161G>A (p.Gln1387=) c.1860G>A (p.Gln620=) c.1920G>A (p.Gln640=) c.2091G>A (p.Gln697=) c.4146G>A (p.Gln1382=) c.4206G>A (p.Gln1402=) c.4101G>A (p.Gln1367=) | |
2 | g.26467432T>A | CA346137319 | OTOF | c.4160A>T (p.Gln1387Leu) c.1859A>T (p.Gln620Leu) c.1919A>T (p.Gln640Leu) c.2090A>T (p.Gln697Leu) c.4145A>T (p.Gln1382Leu) c.4205A>T (p.Gln1402Leu) c.4100A>T (p.Gln1367Leu) | |
2 | g.26467432T>C | CA346137320 | OTOF | c.4160A>G (p.Gln1387Arg) c.1859A>G (p.Gln620Arg) c.1919A>G (p.Gln640Arg) c.2090A>G (p.Gln697Arg) c.4145A>G (p.Gln1382Arg) c.4205A>G (p.Gln1402Arg) c.4100A>G (p.Gln1367Arg) | |
2 | g.26467432T>G | CA346137321 | OTOF | c.4160A>C (p.Gln1387Pro) c.1859A>C (p.Gln620Pro) c.1919A>C (p.Gln640Pro) c.2090A>C (p.Gln697Pro) c.4145A>C (p.Gln1382Pro) c.4205A>C (p.Gln1402Pro) c.4100A>C (p.Gln1367Pro) | |
2 | g.26467433G>A | CA346137322 | OTOF | c.4159C>T (p.Gln1387Ter) c.1858C>T (p.Gln620Ter) c.1918C>T (p.Gln640Ter) c.2089C>T (p.Gln697Ter) c.4144C>T (p.Gln1382Ter) c.4204C>T (p.Gln1402Ter) c.4099C>T (p.Gln1367Ter) | |
2 | g.26467433G>C | CA346137323 | OTOF | c.4159C>G (p.Gln1387Glu) c.1858C>G (p.Gln620Glu) c.1918C>G (p.Gln640Glu) c.2089C>G (p.Gln697Glu) c.4144C>G (p.Gln1382Glu) c.4204C>G (p.Gln1402Glu) c.4099C>G (p.Gln1367Glu) | |
2 | g.26467433G>T | CA346137324 | OTOF | c.4159C>A (p.Gln1387Lys) c.1858C>A (p.Gln620Lys) c.1918C>A (p.Gln640Lys) c.2089C>A (p.Gln697Lys) c.4144C>A (p.Gln1382Lys) c.4204C>A (p.Gln1402Lys) c.4099C>A (p.Gln1367Lys) | |
2 | g.26467434A= | CA1239818495 | OTOF | c.4158T= (p.Thr1386=) c.1857T= (p.Thr619=) c.1917T= (p.Thr639=) c.2088T= (p.Thr696=) c.4143T= (p.Thr1381=) c.4203T= (p.Thr1401=) c.4098T= (p.Thr1366=) | |
2 | g.26467434A>C | CA425207437 | OTOF | c.4158T>G (p.Thr1386=) c.1857T>G (p.Thr619=) c.1917T>G (p.Thr639=) c.2088T>G (p.Thr696=) c.4143T>G (p.Thr1381=) c.4203T>G (p.Thr1401=) c.4098T>G (p.Thr1366=) | |
2 | g.26467434A>G | CA425207438 | OTOF | c.4158T>C (p.Thr1386=) c.1857T>C (p.Thr619=) c.1917T>C (p.Thr639=) c.2088T>C (p.Thr696=) c.4143T>C (p.Thr1381=) c.4203T>C (p.Thr1401=) c.4098T>C (p.Thr1366=) | dbSNP |
2 | g.26467434A>T | CA425207439 | OTOF | c.4158T>A (p.Thr1386=) c.1857T>A (p.Thr619=) c.1917T>A (p.Thr639=) c.2088T>A (p.Thr696=) c.4143T>A (p.Thr1381=) c.4203T>A (p.Thr1401=) c.4098T>A (p.Thr1366=) |