Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.26467333C=CA1239818369OTOFc.4227+32G= (n.4227+32G=)
c.1926+32G= (n.1926+32G=)
c.1986+32G= (n.1986+32G=)
c.2157+32G= (n.2157+32G=)
c.4212+32G= (n.4212+32G=)
c.4272+32G= (n.4272+32G=)
c.4167+32G= (n.4167+32G=)
2g.26467333C>TCA531761805OTOFc.4227+32G>A (n.4227+32G>A)
c.1926+32G>A (n.1926+32G>A)
c.1986+32G>A (n.1986+32G>A)
c.2157+32G>A (n.2157+32G>A)
c.4212+32G>A (n.4212+32G>A)
c.4272+32G>A (n.4272+32G>A)
c.4167+32G>A (n.4167+32G>A)
 dbSNP gnomAD v2
2g.26467334A>CCA2658234856OTOFc.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
2g.26467336C>TCA2658234857OTOFc.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
2g.26467337C>TCA2658234858OTOFc.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
2g.26467341A>GCA2749240443OTOFc.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)
2g.26467343G>ACA1239818374OTOFc.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
2g.26467343G=CA1239818372OTOFc.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=)
2g.26467343G>TCA531761806OTOFc.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
2g.26467344G=CA1239818376OTOFc.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=)
2g.26467344G>TCA1563253OTOFc.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
2g.26467345G=CA1239818378OTOFc.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=)
2g.26467345G>TCA1563254OTOFc.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
2g.26467346T>CCA2658234859OTOFc.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
2g.26467347C>ACA2749240444OTOFc.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)
2g.26467349G>ACA2739274271OTOFc.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
2g.26467349G=CA1239818381OTOFc.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=)
2g.26467349G>TCA1239818383OTOFc.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
2g.26467350C>TCA2749240445OTOFc.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)
2g.26467351T>ACA2697547943OTOFc.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
2g.26467352C>TCA2658234860OTOFc.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
2g.26467353C>GCA2658234861OTOFc.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
2g.26467355A>CCA2658234862OTOFc.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
2g.26467355_26467356delinsAGCA1239818385OTOFc.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)
2g.26467356G>ACA1563256OTOFc.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
2g.26467356G=CA1239818387OTOFc.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=)
2g.26467357delCA1563255OTOFc.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
2g.26467357G>ACA2658234863OTOFc.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
2g.26467357G>CCA1239818391OTOFc.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
2g.26467357G=CA1239818390OTOFc.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=)
2g.26467359T>CCA2658234864OTOFc.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
2g.26467360C=CA1239818396OTOFc.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=)
2g.26467360C>GCA183705OTOFc.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
2g.26467360C>TCA531761807OTOFc.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
2g.26467361T>CCA44413914OTOFc.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
2g.26467361T=CA1239818401OTOFc.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=)
2g.26467362C>ACA2658234865OTOFc.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
2g.26467363A>CCA346137153OTOFc.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)
2g.26467363A>GCA346137152OTOFc.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)
2g.26467363A>TCA346137151OTOFc.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)
2g.26467364C>ACA345122OTOFc.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
2g.26467364C=CA1239818407OTOFc.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=)
2g.26467364C>GCA346137156OTOFc.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)
2g.26467364C>TCA346137157OTOFc.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
2g.26467365C>ACA346137158OTOFc.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)
2g.26467365C>GCA346137159OTOFc.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)
2g.26467365C>TCA425207369OTOFc.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
2g.26467366T>ACA346137164OTOFc.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)
2g.26467366T>CCA346137163OTOFc.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
2g.26467366T>GCA346137161OTOFc.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)
2g.26467366T=CA1239818414OTOFc.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=)
2g.26467367T>ACA346137166OTOFc.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
2g.26467367T>CCA346137167OTOFc.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
2g.26467367T>GCA346137169OTOFc.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)
2g.26467367T=CA1239818417OTOFc.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=)
2g.26467368A=CA1239818419OTOFc.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=)
2g.26467368A>CCA425207371OTOFc.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
2g.26467368A>GCA425207372OTOFc.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=)
2g.26467368A>TCA425207374OTOFc.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=)
2g.26467369A>CCA346137171OTOFc.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)
2g.26467369A>GCA346137172OTOFc.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)
2g.26467369A>TCA346137174OTOFc.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)
2g.26467370G>ACA346137180OTOFc.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)
2g.26467370G>CCA346137183OTOFc.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)
2g.26467370G>TCA346137181OTOFc.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)
2g.26467371C>ACA346137185OTOFc.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)
2g.26467371C=CA1239818421OTOFc.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=)
2g.26467371C>GCA346137187OTOFc.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)
2g.26467371C>TCA425207378OTOFc.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
2g.26467372T>ACA346137188OTOFc.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)
2g.26467372T>CCA1563257OTOFc.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
2g.26467372T>GCA346137189OTOFc.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)
2g.26467372T=CA1239818422OTOFc.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=)
2g.26467373C>ACA346137190OTOFc.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)
2g.26467373C=CA1239818424OTOFc.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=)
2g.26467373C>GCA346137191OTOFc.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)
2g.26467373C>TCA346137192OTOFc.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
2g.26467374A>CCA346137193OTOFc.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
2g.26467374A>GCA425207381OTOFc.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
2g.26467374A>TCA346137194OTOFc.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)
2g.26467375T>ACA346137197OTOFc.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)
2g.26467375T>CCA346137196OTOFc.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)
2g.26467375T>GCA346137195OTOFc.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)
2g.26467376C>ACA346137198OTOFc.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)
2g.26467376C=CA1239818428OTOFc.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=)
2g.26467376C>GCA346137199OTOFc.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)
2g.26467376C>TCA142880OTOFc.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
2g.26467377A>CCA346137200OTOFc.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)
2g.26467377A>GCA425207382OTOFc.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=)
2g.26467377A>TCA425207383OTOFc.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
2g.26467378A>CCA346137201OTOFc.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)
2g.26467378A>GCA346137202OTOFc.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
2g.26467378A>TCA346137203OTOFc.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)
2g.26467379T>ACA346137204OTOFc.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)
2g.26467379T>CCA177547OTOFc.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
2g.26467379T>GCA346137205OTOFc.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)
2g.26467379T=CA1239818435OTOFc.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=)
2g.26467380C>ACA346137206OTOFc.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)
2g.26467380C>GCA346137207OTOFc.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)
2g.26467380C>TCA425207387OTOFc.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=)
2g.26467381T>ACA346137208OTOFc.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)
2g.26467381T>CCA346137209OTOFc.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)
2g.26467381T>GCA346137210OTOFc.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)
2g.26467382T>ACA346137213OTOFc.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)
2g.26467382T>CCA346137211OTOFc.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)
2g.26467382T>GCA346137212OTOFc.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)
2g.26467383G>ACA425207388OTOFc.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=)
2g.26467383G>CCA425207389OTOFc.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=)
2g.26467383G>TCA425207390OTOFc.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=)
2g.26467384G>ACA346137214OTOFc.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)
2g.26467384G>CCA346137215OTOFc.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)
2g.26467384G>TCA346137216OTOFc.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)
2g.26467385G>ACA346137217OTOFc.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)
2g.26467385G>CCA346137218OTOFc.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)
2g.26467385G=CA1239818438OTOFc.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=)
2g.26467385G>TCA346137219OTOFc.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
2g.26467386T>ACA346137220OTOFc.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)
2g.26467386T>CCA425207391OTOFc.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=)
2g.26467386T>GCA346137221OTOFc.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)
2g.26467386_26467388dupCA2658234866OTOFc.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
2g.26467387T>ACA346137222OTOFc.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)
2g.26467387T>CCA346137223OTOFc.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)
2g.26467387T>GCA346137224OTOFc.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)
2g.26467394_26467396delCA2658234867OTOFc.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
2g.26467388T>ACA346137227OTOFc.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)
2g.26467388T>CCA346137226OTOFc.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)
2g.26467388T>GCA346137225OTOFc.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)
2g.26467389C>ACA346137228OTOFc.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)
2g.26467389C>GCA346137229OTOFc.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)
2g.26467389C>TCA425207393OTOFc.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=)
2g.26467390T>ACA346137230OTOFc.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)
2g.26467390T>CCA346137231OTOFc.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)
2g.26467390T>GCA346137232OTOFc.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)
2g.26467391T>ACA346137233OTOFc.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)
2g.26467391T>CCA346137234OTOFc.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)
2g.26467391T>GCA346137235OTOFc.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)
2g.26467392C>ACA346137236OTOFc.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)
2g.26467392C>GCA346137237OTOFc.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)
2g.26467392C>TCA425207394OTOFc.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
2g.26467393T>ACA346137238OTOFc.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)
2g.26467393T>CCA346137240OTOFc.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
2g.26467393T>GCA346137241OTOFc.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)
2g.26467393T=CA1239818440OTOFc.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=)
2g.26467394T>ACA346137244OTOFc.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)
2g.26467394T>CCA346137242OTOFc.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
2g.26467394T>GCA346137243OTOFc.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)
2g.26467394_26467397delinsTCTCCA1239818443OTOFc.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=)
2g.26467395C>ACA346137245OTOFc.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)
2g.26467395C>GCA346137246OTOFc.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)
2g.26467395C>TCA425207395OTOFc.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=)
2g.26467395_26467397delCA1563258OTOFc.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
2g.26467395_26467397dupCA2576699132OTOFc.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)
2g.26467396T>ACA346137247OTOFc.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)
2g.26467396T>CCA346137248OTOFc.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
2g.26467396T>GCA346137249OTOFc.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
2g.26467397C>ACA346137250OTOFc.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)
2g.26467397C=CA1239818449OTOFc.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=)
2g.26467397C>GCA346137251OTOFc.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
2g.26467397C>TCA1563259OTOFc.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
2g.26467398G>ACA1563260OTOFc.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
2g.26467398G>CCA425207399OTOFc.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=)
2g.26467398G=CA1239818456OTOFc.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=)
2g.26467398G>TCA425207398OTOFc.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=)
2g.26467402delCA425207397OTOFc.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
2g.26467399G>ACA1563261OTOFc.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
2g.26467399G>CCA346137252OTOFc.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)
2g.26467399G=CA1239818459OTOFc.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=)
2g.26467399G>TCA346137253OTOFc.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)
2g.26467400G>ACA346137255OTOFc.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
2g.26467400G>CCA346137256OTOFc.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)
2g.26467400G=CA1239818460OTOFc.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=)
2g.26467400G>TCA346137254OTOFc.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)
2g.26467401G>ACA425207401OTOFc.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
2g.26467401G>CCA425207403OTOFc.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=)
2g.26467401G=CA1239818462OTOFc.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=)
2g.26467401G>TCA425207404OTOFc.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=)
2g.26467402G>ACA346137257OTOFc.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
2g.26467402G>CCA44413980OTOFc.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
2g.26467402G=CA1239818464OTOFc.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=)
2g.26467402G>TCA346137258OTOFc.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)
2g.26467403C>ACA346137259OTOFc.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
2g.26467403C=CA1239818465OTOFc.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=)
2g.26467403C>GCA346137261OTOFc.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)
2g.26467403C>TCA346137260OTOFc.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
2g.26467404C>ACA346137262OTOFc.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)
2g.26467404C=CA1239818467OTOFc.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=)
2g.26467404C>GCA346137263OTOFc.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)
2g.26467404C>TCA1563262OTOFc.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
2g.26467405T>ACA346137264OTOFc.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)
2g.26467405T>CCA346137266OTOFc.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)
2g.26467405T>GCA346137265OTOFc.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)
2g.26467406C>ACA346137267OTOFc.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)
2g.26467406C=CA1239818469OTOFc.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=)
2g.26467406C>GCA346137268OTOFc.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
2g.26467406C>TCA1563263OTOFc.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
2g.26467407G>ACA1563264OTOFc.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
2g.26467407G>CCA425207406OTOFc.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
2g.26467407G=CA1239818473OTOFc.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=)
2g.26467407G>TCA425207407OTOFc.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=)
2g.26467408G>ACA346137270OTOFc.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)
2g.26467408G>CCA346137269OTOFc.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)
2g.26467408G>TCA346137271OTOFc.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)
2g.26467409A=CA1239818477OTOFc.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=)
2g.26467409A>CCA1563265OTOFc.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
2g.26467409A>GCA346137272OTOFc.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)
2g.26467409A>TCA346137273OTOFc.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)
2g.26467410C>ACA425207410OTOFc.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=)
2g.26467410C>GCA425207408OTOFc.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=)
2g.26467410C>TCA425207409OTOFc.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=)
2g.26467411C>ACA346137274OTOFc.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)
2g.26467411C=CA1239818479OTOFc.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=)
2g.26467411C>GCA346137275OTOFc.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)
2g.26467411C>TCA1563266OTOFc.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
2g.26467412C>ACA346137276OTOFc.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
2g.26467412C=CA1239818480OTOFc.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=)
2g.26467412C>GCA346137277OTOFc.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)
2g.26467412C>TCA346137278OTOFc.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
2g.26467413C>ACA346137279OTOFc.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)
2g.26467413C=CA1239818482OTOFc.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=)
2g.26467413C>GCA346137280OTOFc.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
2g.26467413C>TCA425207414OTOFc.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
2g.26467414T>ACA346137283OTOFc.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)
2g.26467414T>CCA346137282OTOFc.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)
2g.26467414T>GCA346137281OTOFc.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)
2g.26467415G>ACA346137284OTOFc.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)
2g.26467415G>CCA346137285OTOFc.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)
2g.26467415G>TCA346137286OTOFc.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)
2g.26467416G>ACA425207416OTOFc.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
2g.26467416G>CCA425207415OTOFc.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=)
2g.26467416G=CA1239818483OTOFc.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=)
2g.26467416G>TCA425207417OTOFc.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=)
2g.26467417C>ACA346137287OTOFc.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)
2g.26467417C>GCA346137288OTOFc.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)
2g.26467417C>TCA346137289OTOFc.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
2g.26467418C>ACA346137290OTOFc.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)
2g.26467418C=CA1239818485OTOFc.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=)
2g.26467418C>GCA1563267OTOFc.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
2g.26467418C>TCA346137291OTOFc.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
2g.26467419A>CCA425207419OTOFc.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=)
2g.26467419A>GCA425207420OTOFc.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=)
2g.26467419A>TCA425207421OTOFc.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=)
2g.26467420G>ACA346137292OTOFc.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)
2g.26467420G>CCA346137293OTOFc.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)
2g.26467420G>TCA346137294OTOFc.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)
2g.26467421A=CA1239818487OTOFc.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=)
2g.26467421A>CCA346137296OTOFc.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)
2g.26467421A>GCA1563268OTOFc.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
2g.26467421A>TCA346137295OTOFc.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)
2g.26467422G>ACA425207422OTOFc.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=)
2g.26467422G>CCA425207423OTOFc.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=)
2g.26467422G>TCA425207424OTOFc.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=)
2g.26467423C>ACA346137297OTOFc.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)
2g.26467423C>GCA346137298OTOFc.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)
2g.26467423C>TCA346137299OTOFc.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)
2g.26467424C>ACA346137300OTOFc.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)
2g.26467424C>GCA346137301OTOFc.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)
2g.26467424C>TCA346137302OTOFc.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
2g.26467424_26467427dupCA2576699133OTOFc.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)
2g.26467425A>CCA425207428OTOFc.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=)
2g.26467425A>GCA425207429OTOFc.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=)
2g.26467425A>TCA425207430OTOFc.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=)
2g.26467426G>ACA346137305OTOFc.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
2g.26467426G>CCA346137303OTOFc.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
2g.26467426G>TCA346137304OTOFc.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)
2g.26467427A=CA1239818489OTOFc.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=)
2g.26467427A>CCA346137306OTOFc.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)
2g.26467427A>GCA346137307OTOFc.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
2g.26467427A>TCA346137308OTOFc.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)
2g.26467428G>ACA425207432OTOFc.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=)
2g.26467428G>CCA346137309OTOFc.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)
2g.26467428G>TCA346137310OTOFc.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)
2g.26467429C>ACA346137311OTOFc.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)
2g.26467429C=CA1239818491OTOFc.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=)
2g.26467429C>GCA346137313OTOFc.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
2g.26467429C>TCA346137312OTOFc.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
2g.26467430T>ACA346137314OTOFc.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)
2g.26467430T>CCA346137315OTOFc.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
2g.26467430T>GCA346137316OTOFc.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)
2g.26467430T=CA1239818493OTOFc.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=)
2g.26467431C>ACA346137317OTOFc.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)
2g.26467431C>GCA346137318OTOFc.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
2g.26467431C>TCA425207436OTOFc.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=)
2g.26467432T>ACA346137319OTOFc.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)
2g.26467432T>CCA346137320OTOFc.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)
2g.26467432T>GCA346137321OTOFc.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)
2g.26467433G>ACA346137322OTOFc.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)
2g.26467433G>CCA346137323OTOFc.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)
2g.26467433G>TCA346137324OTOFc.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)

Number of alleles fetched