Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.17635095T>A | CA379812926 | OTOG | c.7637T>A (p.Leu2546His) c.7601T>A (p.Leu2534His) c.4322-515T>A (n.4322-515T>A) | |
11 | g.17635095T>C | CA379812927 | OTOG | c.7637T>C (p.Leu2546Pro) c.7601T>C (p.Leu2534Pro) c.4322-515T>C (n.4322-515T>C) | |
11 | g.17635095T>G | CA379812928 | OTOG | c.7637T>G (p.Leu2546Arg) c.7601T>G (p.Leu2534Arg) c.4322-515T>G (n.4322-515T>G) | |
11 | g.17635096C>A | CA473310897 | OTOG | c.7638C>A (p.Leu2546=) c.7602C>A (p.Leu2534=) c.4322-514C>A (n.4322-514C>A) | |
11 | g.17635096C>G | CA473310899 | OTOG | c.7638C>G (p.Leu2546=) c.7602C>G (p.Leu2534=) c.4322-514C>G (n.4322-514C>G) | |
11 | g.17635096C>T | CA473310898 | OTOG | c.7638C>T (p.Leu2546=) c.7602C>T (p.Leu2534=) c.4322-514C>T (n.4322-514C>T) | |
11 | g.17635097T>A | CA379812929 | OTOG | c.7639T>A (p.Cys2547Ser) c.7603T>A (p.Cys2535Ser) c.4322-513T>A (n.4322-513T>A) | |
11 | g.17635097T>C | CA379812930 | OTOG | c.7639T>C (p.Cys2547Arg) c.7603T>C (p.Cys2535Arg) c.4322-513T>C (n.4322-513T>C) | |
11 | g.17635097T>G | CA379812931 | OTOG | c.7639T>G (p.Cys2547Gly) c.7603T>G (p.Cys2535Gly) c.4322-513T>G (n.4322-513T>G) | |
11 | g.17635098G>A | CA379812932 | OTOG | c.7640G>A (p.Cys2547Tyr) c.7604G>A (p.Cys2535Tyr) c.4322-512G>A (n.4322-512G>A) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17635098G>C | CA379812933 | OTOG | c.7640G>C (p.Cys2547Ser) c.7604G>C (p.Cys2535Ser) c.4322-512G>C (n.4322-512G>C) | |
11 | g.17635098G= | CA1955236929 | OTOG | c.7640G= (p.Cys2547=) c.7604G= (p.Cys2535=) c.4322-512G= (n.4322-512G=) | |
11 | g.17635098G>T | CA379812934 | OTOG | c.7640G>T (p.Cys2547Phe) c.7604G>T (p.Cys2535Phe) c.4322-512G>T (n.4322-512G>T) | |
11 | g.17635099T>A | CA379812935 | OTOG | c.7641T>A (p.Cys2547Ter) c.7605T>A (p.Cys2535Ter) c.4322-511T>A (n.4322-511T>A) | |
11 | g.17635099T>C | CA473310900 | OTOG | c.7641T>C (p.Cys2547=) c.7605T>C (p.Cys2535=) c.4322-511T>C (n.4322-511T>C) | |
11 | g.17635099T>G | CA379812936 | OTOG | c.7641T>G (p.Cys2547Trp) c.7605T>G (p.Cys2535Trp) c.4322-511T>G (n.4322-511T>G) | dbSNP |
11 | g.17635099T= | CA1955236930 | OTOG | c.7641T= (p.Cys2547=) c.7605T= (p.Cys2535=) c.4322-511T= (n.4322-511T=) | |
11 | g.17635100G>A | CA379812939 | OTOG | c.7642G>A (p.Glu2548Lys) c.7606G>A (p.Glu2536Lys) c.4322-510G>A (n.4322-510G>A) | |
11 | g.17635100G>C | CA379812938 | OTOG | c.7642G>C (p.Glu2548Gln) c.7606G>C (p.Glu2536Gln) c.4322-510G>C (n.4322-510G>C) | |
11 | g.17635100G>T | CA379812937 | OTOG | c.7642G>T (p.Glu2548Ter) c.7606G>T (p.Glu2536Ter) c.4322-510G>T (n.4322-510G>T) | |
11 | g.17635101A>C | CA379812940 | OTOG | c.7643A>C (p.Glu2548Ala) c.7607A>C (p.Glu2536Ala) c.4322-509A>C (n.4322-509A>C) | |
11 | g.17635101A>G | CA379812941 | OTOG | c.7643A>G (p.Glu2548Gly) c.7607A>G (p.Glu2536Gly) c.4322-509A>G (n.4322-509A>G) | |
11 | g.17635101A>T | CA379812942 | OTOG | c.7643A>T (p.Glu2548Val) c.7607A>T (p.Glu2536Val) c.4322-509A>T (n.4322-509A>T) | gnomAD v4 |
11 | g.17635102G>A | CA473310901 | OTOG | c.7644G>A (p.Glu2548=) c.7608G>A (p.Glu2536=) c.4322-508G>A (n.4322-508G>A) | |
11 | g.17635102G>C | CA379812943 | OTOG | c.7644G>C (p.Glu2548Asp) c.7608G>C (p.Glu2536Asp) c.4322-508G>C (n.4322-508G>C) | |
11 | g.17635102G>T | CA379812944 | OTOG | c.7644G>T (p.Glu2548Asp) c.7608G>T (p.Glu2536Asp) c.4322-508G>T (n.4322-508G>T) | gnomAD v4 |
11 | g.17635103G>A | CA379812945 | OTOG | c.7645G>A (p.Ala2549Thr) c.7609G>A (p.Ala2537Thr) c.4322-507G>A (n.4322-507G>A) | gnomAD v4 |
11 | g.17635103G>C | CA379812946 | OTOG | c.7645G>C (p.Ala2549Pro) c.7609G>C (p.Ala2537Pro) c.4322-507G>C (n.4322-507G>C) | gnomAD v4 |
11 | g.17635103G>T | CA379812947 | OTOG | c.7645G>T (p.Ala2549Ser) c.7609G>T (p.Ala2537Ser) c.4322-507G>T (n.4322-507G>T) | |
11 | g.17635104C>A | CA379812948 | OTOG | c.7646C>A (p.Ala2549Glu) c.7610C>A (p.Ala2537Glu) c.4322-506C>A (n.4322-506C>A) | |
11 | g.17635104C= | CA1955236931 | OTOG | c.7646C= (p.Ala2549=) c.7610C= (p.Ala2537=) c.4322-506C= (n.4322-506C=) | |
11 | g.17635104C>G | CA379812949 | OTOG | c.7646C>G (p.Ala2549Gly) c.7610C>G (p.Ala2537Gly) c.4322-506C>G (n.4322-506C>G) | |
11 | g.17635104C>T | CA218498989 | OTOG | c.7646C>T (p.Ala2549Val) c.7610C>T (p.Ala2537Val) c.4322-506C>T (n.4322-506C>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17635105A= | CA1955236932 | OTOG | c.7647A= (p.Ala2549=) c.7611A= (p.Ala2537=) c.4322-505A= (n.4322-505A=) | |
11 | g.17635105A>C | CA5906153 | OTOG | c.7647A>C (p.Ala2549=) c.7611A>C (p.Ala2537=) c.4322-505A>C (n.4322-505A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17635105A>G | CA473310902 | OTOG | c.7647A>G (p.Ala2549=) c.7611A>G (p.Ala2537=) c.4322-505A>G (n.4322-505A>G) | |
11 | g.17635105A>T | CA473310903 | OTOG | c.7647A>T (p.Ala2549=) c.7611A>T (p.Ala2537=) c.4322-505A>T (n.4322-505A>T) | |
11 | g.17635106G>A | CA379812952 | OTOG | c.7648G>A (p.Glu2550Lys) c.7612G>A (p.Glu2538Lys) c.4322-504G>A (n.4322-504G>A) | dbSNP |
11 | g.17635106G>C | CA379812951 | OTOG | c.7648G>C (p.Glu2550Gln) c.7612G>C (p.Glu2538Gln) c.4322-504G>C (n.4322-504G>C) | ClinVar |
11 | g.17635106G= | CA1955236933 | OTOG | c.7648G= (p.Glu2550=) c.7612G= (p.Glu2538=) c.4322-504G= (n.4322-504G=) | |
11 | g.17635106G>T | CA379812950 | OTOG | c.7648G>T (p.Glu2550Ter) c.7612G>T (p.Glu2538Ter) c.4322-504G>T (n.4322-504G>T) | |
11 | g.17635107A>C | CA379812953 | OTOG | c.7649A>C (p.Glu2550Ala) c.7613A>C (p.Glu2538Ala) c.4322-503A>C (n.4322-503A>C) | |
11 | g.17635107A>G | CA379812954 | OTOG | c.7649A>G (p.Glu2550Gly) c.7613A>G (p.Glu2538Gly) c.4322-503A>G (n.4322-503A>G) | |
11 | g.17635107A>T | CA379812955 | OTOG | c.7649A>T (p.Glu2550Val) c.7613A>T (p.Glu2538Val) c.4322-503A>T (n.4322-503A>T) | |
11 | g.17635108G>A | CA473310904 | OTOG | c.7650G>A (p.Glu2550=) c.7614G>A (p.Glu2538=) c.4322-502G>A (n.4322-502G>A) | |
11 | g.17635108G>C | CA379812956 | OTOG | c.7650G>C (p.Glu2550Asp) c.7614G>C (p.Glu2538Asp) c.4322-502G>C (n.4322-502G>C) | |
11 | g.17635108G>T | CA379812957 | OTOG | c.7650G>T (p.Glu2550Asp) c.7614G>T (p.Glu2538Asp) c.4322-502G>T (n.4322-502G>T) | |
11 | g.17635109C>A | CA379812958 | OTOG | c.7651C>A (p.Leu2551Met) c.7615C>A (p.Leu2539Met) c.4322-501C>A (n.4322-501C>A) | gnomAD v4 |
11 | g.17635109C>G | CA379812959 | OTOG | c.7651C>G (p.Leu2551Val) c.7615C>G (p.Leu2539Val) c.4322-501C>G (n.4322-501C>G) | |
11 | g.17635109C>T | CA473310905 | OTOG | c.7651C>T (p.Leu2551=) c.7615C>T (p.Leu2539=) c.4322-501C>T (n.4322-501C>T) | |
11 | g.17635110T>A | CA379812960 | OTOG | c.7652T>A (p.Leu2551Gln) c.7616T>A (p.Leu2539Gln) c.4322-500T>A (n.4322-500T>A) | |
11 | g.17635110T>C | CA379812961 | OTOG | c.7652T>C (p.Leu2551Pro) c.7616T>C (p.Leu2539Pro) c.4322-500T>C (n.4322-500T>C) | |
11 | g.17635110T>G | CA379812962 | OTOG | c.7652T>G (p.Leu2551Arg) c.7616T>G (p.Leu2539Arg) c.4322-500T>G (n.4322-500T>G) | |
11 | g.17635111G>A | CA473310906 | OTOG | c.7653G>A (p.Leu2551=) c.7617G>A (p.Leu2539=) c.4322-499G>A (n.4322-499G>A) | dbSNP |
11 | g.17635111G>C | CA473310907 | OTOG | c.7653G>C (p.Leu2551=) c.7617G>C (p.Leu2539=) c.4322-499G>C (n.4322-499G>C) | |
11 | g.17635111G= | CA1955236934 | OTOG | c.7653G= (p.Leu2551=) c.7617G= (p.Leu2539=) c.4322-499G= (n.4322-499G=) | |
11 | g.17635111G>T | CA218498995 | OTOG | c.7653G>T (p.Leu2551=) c.7617G>T (p.Leu2539=) c.4322-499G>T (n.4322-499G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.17635112G>A | CA379812963 | OTOG | c.7654G>A (p.Val2552Ile) c.7618G>A (p.Val2540Ile) c.4322-498G>A (n.4322-498G>A) | |
11 | g.17635112G>C | CA379812964 | OTOG | c.7654G>C (p.Val2552Leu) c.7618G>C (p.Val2540Leu) c.4322-498G>C (n.4322-498G>C) | dbSNP |
11 | g.17635112G= | CA1955236935 | OTOG | c.7654G= (p.Val2552=) c.7618G= (p.Val2540=) c.4322-498G= (n.4322-498G=) | |
11 | g.17635112G>T | CA379812965 | OTOG | c.7654G>T (p.Val2552Phe) c.7618G>T (p.Val2540Phe) c.4322-498G>T (n.4322-498G>T) | dbSNP gnomAD v4 |
11 | g.17635113T>A | CA379812968 | OTOG | c.7655T>A (p.Val2552Asp) c.7619T>A (p.Val2540Asp) c.4322-497T>A (n.4322-497T>A) | |
11 | g.17635113T>C | CA379812966 | OTOG | c.7655T>C (p.Val2552Ala) c.7619T>C (p.Val2540Ala) c.4322-497T>C (n.4322-497T>C) | dbSNP |
11 | g.17635113T>G | CA379812967 | OTOG | c.7655T>G (p.Val2552Gly) c.7619T>G (p.Val2540Gly) c.4322-497T>G (n.4322-497T>G) | |
11 | g.17635114C>A | CA473310908 | OTOG | c.7656C>A (p.Val2552=) c.7620C>A (p.Val2540=) c.4322-496C>A (n.4322-496C>A) | gnomAD v4 |
11 | g.17635114C= | CA1955236936 | OTOG | c.7656C= (p.Val2552=) c.7620C= (p.Val2540=) c.4322-496C= (n.4322-496C=) | |
11 | g.17635114C>G | CA473310909 | OTOG | c.7656C>G (p.Val2552=) c.7620C>G (p.Val2540=) c.4322-496C>G (n.4322-496C>G) | |
11 | g.17635114C>T | CA473310910 | OTOG | c.7656C>T (p.Val2552=) c.7620C>T (p.Val2540=) c.4322-496C>T (n.4322-496C>T) | dbSNP gnomAD v4 |
11 | g.17635117del | CA2612690171 | OTOG | c.7659del (p.Ser2554AlafsTer8) c.7623del (p.Ser2542AlafsTer8) c.4322-493del (n.4322-493del) | gnomAD v4 |
11 | g.17635115C>A | CA379812969 | OTOG | c.7657C>A (p.Pro2553Thr) c.7621C>A (p.Pro2541Thr) c.4322-495C>A (n.4322-495C>A) | |
11 | g.17635115C= | CA1955236937 | OTOG | c.7657C= (p.Pro2553=) c.7621C= (p.Pro2541=) c.4322-495C= (n.4322-495C=) | |
11 | g.17635115C>G | CA379812970 | OTOG | c.7657C>G (p.Pro2553Ala) c.7621C>G (p.Pro2541Ala) c.4322-495C>G (n.4322-495C>G) | dbSNP gnomAD v4 |
11 | g.17635115C>T | CA379812971 | OTOG | c.7657C>T (p.Pro2553Ser) c.7621C>T (p.Pro2541Ser) c.4322-495C>T (n.4322-495C>T) | |
11 | g.17635116C>A | CA379812972 | OTOG | c.7658C>A (p.Pro2553His) c.7622C>A (p.Pro2541His) c.4322-494C>A (n.4322-494C>A) | |
11 | g.17635116C>G | CA379812973 | OTOG | c.7658C>G (p.Pro2553Arg) c.7622C>G (p.Pro2541Arg) c.4322-494C>G (n.4322-494C>G) | |
11 | g.17635116C>T | CA379812974 | OTOG | c.7658C>T (p.Pro2553Leu) c.7622C>T (p.Pro2541Leu) c.4322-494C>T (n.4322-494C>T) | gnomAD v4 |
11 | g.17635117C>A | CA473310911 | OTOG | c.7659C>A (p.Pro2553=) c.7623C>A (p.Pro2541=) c.4322-493C>A (n.4322-493C>A) | gnomAD v4 |
11 | g.17635117C= | CA1955236938 | OTOG | c.7659C= (p.Pro2553=) c.7623C= (p.Pro2541=) c.4322-493C= (n.4322-493C=) | |
11 | g.17635117C>G | CA473310912 | OTOG | c.7659C>G (p.Pro2553=) c.7623C>G (p.Pro2541=) c.4322-493C>G (n.4322-493C>G) | |
11 | g.17635117C>T | CA218498996 | OTOG | c.7659C>T (p.Pro2553=) c.7623C>T (p.Pro2541=) c.4322-493C>T (n.4322-493C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17635120_17635129del | CA2612690180 | OTOG | c.7662_7671del (p.Ser2554ArgfsTer5) c.7626_7635del (p.Ser2542ArgfsTer5) c.4322-490_4322-481del (n.4322-490_4322-481del) | gnomAD v4 |
11 | g.17635118A>C | CA379812975 | OTOG | c.7660A>C (p.Ser2554Arg) c.7624A>C (p.Ser2542Arg) c.4322-492A>C (n.4322-492A>C) | |
11 | g.17635118A>G | CA379812976 | OTOG | c.7660A>G (p.Ser2554Gly) c.7624A>G (p.Ser2542Gly) c.4322-492A>G (n.4322-492A>G) | |
11 | g.17635118A>T | CA379812977 | OTOG | c.7660A>T (p.Ser2554Cys) c.7624A>T (p.Ser2542Cys) c.4322-492A>T (n.4322-492A>T) | |
11 | g.17635119G>A | CA379812978 | OTOG | c.7661G>A (p.Ser2554Asn) c.7625G>A (p.Ser2542Asn) c.4322-491G>A (n.4322-491G>A) | |
11 | g.17635119G>C | CA379812979 | OTOG | c.7661G>C (p.Ser2554Thr) c.7625G>C (p.Ser2542Thr) c.4322-491G>C (n.4322-491G>C) | dbSNP gnomAD v4 |
11 | g.17635119G>T | CA379812980 | OTOG | c.7661G>T (p.Ser2554Ile) c.7625G>T (p.Ser2542Ile) c.4322-491G>T (n.4322-491G>T) | gnomAD v4 |
11 | g.17635120C>A | CA379812982 | OTOG | c.7662C>A (p.Ser2554Arg) c.7626C>A (p.Ser2542Arg) c.4322-490C>A (n.4322-490C>A) | |
11 | g.17635120C= | CA1955236939 | OTOG | c.7662C= (p.Ser2554=) c.7626C= (p.Ser2542=) c.4322-490C= (n.4322-490C=) | |
11 | g.17635120C>G | CA379812981 | OTOG | c.7662C>G (p.Ser2554Arg) c.7626C>G (p.Ser2542Arg) c.4322-490C>G (n.4322-490C>G) | |
11 | g.17635120C>T | CA473310913 | OTOG | c.7662C>T (p.Ser2554=) c.7626C>T (p.Ser2542=) c.4322-490C>T (n.4322-490C>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17635121T>A | CA379812983 | OTOG | c.7663T>A (p.Cys2555Ser) c.7627T>A (p.Cys2543Ser) c.4322-489T>A (n.4322-489T>A) | |
11 | g.17635121T>C | CA379812985 | OTOG | c.7663T>C (p.Cys2555Arg) c.7627T>C (p.Cys2543Arg) c.4322-489T>C (n.4322-489T>C) | |
11 | g.17635121T>G | CA379812984 | OTOG | c.7663T>G (p.Cys2555Gly) c.7627T>G (p.Cys2543Gly) c.4322-489T>G (n.4322-489T>G) | |
11 | g.17635122G>A | CA379812986 | OTOG | c.7664G>A (p.Cys2555Tyr) c.7628G>A (p.Cys2543Tyr) c.4322-488G>A (n.4322-488G>A) | gnomAD v4 |
11 | g.17635122G>C | CA379812988 | OTOG | c.7664G>C (p.Cys2555Ser) c.7628G>C (p.Cys2543Ser) c.4322-488G>C (n.4322-488G>C) | |
11 | g.17635122G>T | CA379812987 | OTOG | c.7664G>T (p.Cys2555Phe) c.7628G>T (p.Cys2543Phe) c.4322-488G>T (n.4322-488G>T) | dbSNP |
11 | g.17635123C>A | CA379812989 | OTOG | c.7665C>A (p.Cys2555Ter) c.7629C>A (p.Cys2543Ter) c.4322-487C>A (n.4322-487C>A) | |
11 | g.17635123C= | CA1955236940 | OTOG | c.7665C= (p.Cys2555=) c.7629C= (p.Cys2543=) c.4322-487C= (n.4322-487C=) | |
11 | g.17635123C>G | CA379812990 | OTOG | c.7665C>G (p.Cys2555Trp) c.7629C>G (p.Cys2543Trp) c.4322-487C>G (n.4322-487C>G) | |
11 | g.17635123C>T | CA473310914 | OTOG | c.7665C>T (p.Cys2555=) c.7629C>T (p.Cys2543=) c.4322-487C>T (n.4322-487C>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17635124C>A | CA473310915 | OTOG | c.7666C>A (p.Arg2556=) c.7630C>A (p.Arg2544=) c.4322-486C>A (n.4322-486C>A) | |
11 | g.17635124C= | CA1955236941 | OTOG | c.7666C= (p.Arg2556=) c.7630C= (p.Arg2544=) c.4322-486C= (n.4322-486C=) | |
11 | g.17635124C>G | CA379812991 | OTOG | c.7666C>G (p.Arg2556Gly) c.7630C>G (p.Arg2544Gly) c.4322-486C>G (n.4322-486C>G) | |
11 | g.17635124C>T | CA379812992 | OTOG | c.7666C>T (p.Arg2556Ter) c.7630C>T (p.Arg2544Ter) c.4322-486C>T (n.4322-486C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.17635125G>A | CA5906154 | OTOG | c.7667G>A (p.Arg2556Gln) c.7631G>A (p.Arg2544Gln) c.4322-485G>A (n.4322-485G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17635125G>C | CA379812993 | OTOG | c.7667G>C (p.Arg2556Pro) c.7631G>C (p.Arg2544Pro) c.4322-485G>C (n.4322-485G>C) | gnomAD v4 |
11 | g.17635125G= | CA1955236942 | OTOG | c.7667G= (p.Arg2556=) c.7631G= (p.Arg2544=) c.4322-485G= (n.4322-485G=) | |
11 | g.17635125G>T | CA379812994 | OTOG | c.7667G>T (p.Arg2556Leu) c.7631G>T (p.Arg2544Leu) c.4322-485G>T (n.4322-485G>T) | gnomAD v4 |
11 | g.17635126A>C | CA473310916 | OTOG | c.7668A>C (p.Arg2556=) c.7632A>C (p.Arg2544=) c.4322-484A>C (n.4322-484A>C) | |
11 | g.17635126A>G | CA473310917 | OTOG | c.7668A>G (p.Arg2556=) c.7632A>G (p.Arg2544=) c.4322-484A>G (n.4322-484A>G) | |
11 | g.17635126A>T | CA473310918 | OTOG | c.7668A>T (p.Arg2556=) c.7632A>T (p.Arg2544=) c.4322-484A>T (n.4322-484A>T) | |
11 | g.17635127C>A | CA379812995 | OTOG | c.7669C>A (p.Gln2557Lys) c.7633C>A (p.Gln2545Lys) c.4322-483C>A (n.4322-483C>A) | dbSNP |
11 | g.17635127C= | CA1955236943 | OTOG | c.7669C= (p.Gln2557=) c.7633C= (p.Gln2545=) c.4322-483C= (n.4322-483C=) | |
11 | g.17635127C>G | CA379812996 | OTOG | c.7669C>G (p.Gln2557Glu) c.7633C>G (p.Gln2545Glu) c.4322-483C>G (n.4322-483C>G) | gnomAD v4 |
11 | g.17635127C>T | CA379812997 | OTOG | c.7669C>T (p.Gln2557Ter) c.7633C>T (p.Gln2545Ter) c.4322-483C>T (n.4322-483C>T) | ClinVar gnomAD v4 |
11 | g.17635128A>C | CA379812998 | OTOG | c.7670A>C (p.Gln2557Pro) c.7634A>C (p.Gln2545Pro) c.4322-482A>C (n.4322-482A>C) | |
11 | g.17635128A>G | CA379812999 | OTOG | c.7670A>G (p.Gln2557Arg) c.7634A>G (p.Gln2545Arg) c.4322-482A>G (n.4322-482A>G) | gnomAD v4 |
11 | g.17635128A>T | CA379813000 | OTOG | c.7670A>T (p.Gln2557Leu) c.7634A>T (p.Gln2545Leu) c.4322-482A>T (n.4322-482A>T) | |
11 | g.17635129G>A | CA473310919 | OTOG | c.7671G>A (p.Gln2557=) c.7635G>A (p.Gln2545=) c.4322-481G>A (n.4322-481G>A) | |
11 | g.17635129G>C | CA379813002 | OTOG | c.7671G>C (p.Gln2557His) c.7635G>C (p.Gln2545His) c.4322-481G>C (n.4322-481G>C) | |
11 | g.17635129G>T | CA379813001 | OTOG | c.7671G>T (p.Gln2557His) c.7635G>T (p.Gln2545His) c.4322-481G>T (n.4322-481G>T) | gnomAD v4 |
11 | g.17635130G>A | CA379813003 | OTOG | c.7672G>A (p.Asp2558Asn) c.7636G>A (p.Asp2546Asn) c.4322-480G>A (n.4322-480G>A) | dbSNP gnomAD v4 |
11 | g.17635130G>C | CA379813004 | OTOG | c.7672G>C (p.Asp2558His) c.7636G>C (p.Asp2546His) c.4322-480G>C (n.4322-480G>C) | |
11 | g.17635130G= | CA1955236944 | OTOG | c.7672G= (p.Asp2558=) c.7636G= (p.Asp2546=) c.4322-480G= (n.4322-480G=) | |
11 | g.17635130G>T | CA379813005 | OTOG | c.7672G>T (p.Asp2558Tyr) c.7636G>T (p.Asp2546Tyr) c.4322-480G>T (n.4322-480G>T) | gnomAD v4 |
11 | g.17635131A= | CA1955236945 | OTOG | c.7673A= (p.Asp2558=) c.7637A= (p.Asp2546=) c.4322-479A= (n.4322-479A=) | |
11 | g.17635131A>C | CA379813006 | OTOG | c.7673A>C (p.Asp2558Ala) c.7637A>C (p.Asp2546Ala) c.4322-479A>C (n.4322-479A>C) | |
11 | g.17635131A>G | CA379813007 | OTOG | c.7673A>G (p.Asp2558Gly) c.7637A>G (p.Asp2546Gly) c.4322-479A>G (n.4322-479A>G) | dbSNP gnomAD v4 |
11 | g.17635131A>T | CA379813008 | OTOG | c.7673A>T (p.Asp2558Val) c.7637A>T (p.Asp2546Val) c.4322-479A>T (n.4322-479A>T) | |
11 | g.17635132C>A | CA379813009 | OTOG | c.7674C>A (p.Asp2558Glu) c.7638C>A (p.Asp2546Glu) c.4322-478C>A (n.4322-478C>A) | |
11 | g.17635132C>G | CA379813010 | OTOG | c.7674C>G (p.Asp2558Glu) c.7638C>G (p.Asp2546Glu) c.4322-478C>G (n.4322-478C>G) | |
11 | g.17635132C>T | CA473310920 | OTOG | c.7674C>T (p.Asp2558=) c.7638C>T (p.Asp2546=) c.4322-478C>T (n.4322-478C>T) | COSMIC |
11 | g.17635133C>A | CA379813011 | OTOG | c.7675C>A (p.Gln2559Lys) c.7639C>A (p.Gln2547Lys) c.4322-477C>A (n.4322-477C>A) | gnomAD v4 |
11 | g.17635133C>G | CA379813012 | OTOG | c.7675C>G (p.Gln2559Glu) c.7639C>G (p.Gln2547Glu) c.4322-477C>G (n.4322-477C>G) | |
11 | g.17635133C>T | CA379813013 | OTOG | c.7675C>T (p.Gln2559Ter) c.7639C>T (p.Gln2547Ter) c.4322-477C>T (n.4322-477C>T) | |
11 | g.17635134A>C | CA379813016 | OTOG | c.7676A>C (p.Gln2559Pro) c.7640A>C (p.Gln2547Pro) c.4322-476A>C (n.4322-476A>C) | |
11 | g.17635134A>G | CA379813015 | OTOG | c.7676A>G (p.Gln2559Arg) c.7640A>G (p.Gln2547Arg) c.4322-476A>G (n.4322-476A>G) | |
11 | g.17635134A>T | CA379813014 | OTOG | c.7676A>T (p.Gln2559Leu) c.7640A>T (p.Gln2547Leu) c.4322-476A>T (n.4322-476A>T) | |
11 | g.17635135G>A | CA473310921 | OTOG | c.7677G>A (p.Gln2559=) c.7641G>A (p.Gln2547=) c.4322-475G>A (n.4322-475G>A) | COSMIC |
11 | g.17635135G>C | CA379813017 | OTOG | c.7677G>C (p.Gln2559His) c.7641G>C (p.Gln2547His) c.4322-475G>C (n.4322-475G>C) | ClinVar |
11 | g.17635135G>T | CA379813018 | OTOG | c.7677G>T (p.Gln2559His) c.7641G>T (p.Gln2547His) c.4322-475G>T (n.4322-475G>T) | gnomAD v4 |
11 | g.17635136A>C | CA379813019 | OTOG | c.7678A>C (p.Ile2560Leu) c.7642A>C (p.Ile2548Leu) c.4322-474A>C (n.4322-474A>C) | dbSNP |
11 | g.17635136A>G | CA379813020 | OTOG | c.7678A>G (p.Ile2560Val) c.7642A>G (p.Ile2548Val) c.4322-474A>G (n.4322-474A>G) | gnomAD v4 |
11 | g.17635136A>T | CA379813021 | OTOG | c.7678A>T (p.Ile2560Phe) c.7642A>T (p.Ile2548Phe) c.4322-474A>T (n.4322-474A>T) | |
11 | g.17635137T>A | CA379813022 | OTOG | c.7679T>A (p.Ile2560Asn) c.7643T>A (p.Ile2548Asn) c.4322-473T>A (n.4322-473T>A) | |
11 | g.17635137T>C | CA379813023 | OTOG | c.7679T>C (p.Ile2560Thr) c.7643T>C (p.Ile2548Thr) c.4322-473T>C (n.4322-473T>C) | gnomAD v4 |
11 | g.17635137T>G | CA379813024 | OTOG | c.7679T>G (p.Ile2560Ser) c.7643T>G (p.Ile2548Ser) c.4322-473T>G (n.4322-473T>G) | |
11 | g.17635138C>A | CA473310922 | OTOG | c.7680C>A (p.Ile2560=) c.7644C>A (p.Ile2548=) c.4322-472C>A (n.4322-472C>A) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17635138C= | CA1955236946 | OTOG | c.7680C= (p.Ile2560=) c.7644C= (p.Ile2548=) c.4322-472C= (n.4322-472C=) | |
11 | g.17635138C>G | CA379813025 | OTOG | c.7680C>G (p.Ile2560Met) c.7644C>G (p.Ile2548Met) c.4322-472C>G (n.4322-472C>G) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17635138C>T | CA473310923 | OTOG | c.7680C>T (p.Ile2560=) c.7644C>T (p.Ile2548=) c.4322-472C>T (n.4322-472C>T) | gnomAD v4 |
11 | g.17635139C>A | CA379813026 | OTOG | c.7681C>A (p.Leu2561Met) c.7645C>A (p.Leu2549Met) c.4322-471C>A (n.4322-471C>A) | gnomAD v4 |
11 | g.17635139C= | CA1955236947 | OTOG | c.7681C= (p.Leu2561=) c.7645C= (p.Leu2549=) c.4322-471C= (n.4322-471C=) | |
11 | g.17635139C>G | CA379813027 | OTOG | c.7681C>G (p.Leu2561Val) c.7645C>G (p.Leu2549Val) c.4322-471C>G (n.4322-471C>G) | |
11 | g.17635139C>T | CA5906155 | OTOG | c.7681C>T (p.Leu2561=) c.7645C>T (p.Leu2549=) c.4322-471C>T (n.4322-471C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17635140T>A | CA379813030 | OTOG | c.7682T>A (p.Leu2561Gln) c.7646T>A (p.Leu2549Gln) c.4322-470T>A (n.4322-470T>A) | |
11 | g.17635140T>C | CA379813028 | OTOG | c.7682T>C (p.Leu2561Pro) c.7646T>C (p.Leu2549Pro) c.4322-470T>C (n.4322-470T>C) | dbSNP |
11 | g.17635140T>G | CA379813029 | OTOG | c.7682T>G (p.Leu2561Arg) c.7646T>G (p.Leu2549Arg) c.4322-470T>G (n.4322-470T>G) | gnomAD v4 |
11 | g.17635140T= | CA1955236948 | OTOG | c.7682T= (p.Leu2561=) c.7646T= (p.Leu2549=) c.4322-470T= (n.4322-470T=) | |
11 | g.17635141G>A | CA473310924 | OTOG | c.7683G>A (p.Leu2561=) c.7647G>A (p.Leu2549=) c.4322-469G>A (n.4322-469G>A) | dbSNP |
11 | g.17635141G>C | CA218499002 | OTOG | c.7683G>C (p.Leu2561=) c.7647G>C (p.Leu2549=) c.4322-469G>C (n.4322-469G>C) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17635141G= | CA1955236949 | OTOG | c.7683G= (p.Leu2561=) c.7647G= (p.Leu2549=) c.4322-469G= (n.4322-469G=) | |
11 | g.17635141G>T | CA473310925 | OTOG | c.7683G>T (p.Leu2561=) c.7647G>T (p.Leu2549=) c.4322-469G>T (n.4322-469G>T) | gnomAD v4 |
11 | g.17635142A>C | CA379813031 | OTOG | c.7684A>C (p.Ile2562Leu) c.7648A>C (p.Ile2550Leu) c.4322-468A>C (n.4322-468A>C) | |
11 | g.17635142A>G | CA379813032 | OTOG | c.7684A>G (p.Ile2562Val) c.7648A>G (p.Ile2550Val) c.4322-468A>G (n.4322-468A>G) | |
11 | g.17635142A>T | CA379813033 | OTOG | c.7684A>T (p.Ile2562Phe) c.7648A>T (p.Ile2550Phe) c.4322-468A>T (n.4322-468A>T) | |
11 | g.17635143T>A | CA379813034 | OTOG | c.7685T>A (p.Ile2562Asn) c.7649T>A (p.Ile2550Asn) c.4322-467T>A (n.4322-467T>A) | |
11 | g.17635143T>C | CA379813035 | OTOG | c.7685T>C (p.Ile2562Thr) c.7649T>C (p.Ile2550Thr) c.4322-467T>C (n.4322-467T>C) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17635143T>G | CA379813036 | OTOG | c.7685T>G (p.Ile2562Ser) c.7649T>G (p.Ile2550Ser) c.4322-467T>G (n.4322-467T>G) | |
11 | g.17635143T= | CA1955236950 | OTOG | c.7685T= (p.Ile2562=) c.7649T= (p.Ile2550=) c.4322-467T= (n.4322-467T=) | |
11 | g.17635144C>A | CA473310926 | OTOG | c.7686C>A (p.Ile2562=) c.7650C>A (p.Ile2550=) c.4322-466C>A (n.4322-466C>A) | gnomAD v4 |
11 | g.17635144C= | CA1955236951 | OTOG | c.7686C= (p.Ile2562=) c.7650C= (p.Ile2550=) c.4322-466C= (n.4322-466C=) | |
11 | g.17635144C>G | CA379813037 | OTOG | c.7686C>G (p.Ile2562Met) c.7650C>G (p.Ile2550Met) c.4322-466C>G (n.4322-466C>G) | |
11 | g.17635144C>T | CA5906156 | OTOG | c.7686C>T (p.Ile2562=) c.7650C>T (p.Ile2550=) c.4322-466C>T (n.4322-466C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17635145A= | CA1955236952 | OTOG | c.7687A= (p.Thr2563=) c.7651A= (p.Thr2551=) c.4322-465A= (n.4322-465A=) | |
11 | g.17635145A>C | CA379813038 | OTOG | c.7687A>C (p.Thr2563Pro) c.7651A>C (p.Thr2551Pro) c.4322-465A>C (n.4322-465A>C) | |
11 | g.17635145A>G | CA379813039 | OTOG | c.7687A>G (p.Thr2563Ala) c.7651A>G (p.Thr2551Ala) c.4322-465A>G (n.4322-465A>G) | dbSNP |
11 | g.17635145A>T | CA379813040 | OTOG | c.7687A>T (p.Thr2563Ser) c.7651A>T (p.Thr2551Ser) c.4322-465A>T (n.4322-465A>T) | |
11 | g.17635146C>A | CA379813041 | OTOG | c.7688C>A (p.Thr2563Lys) c.7652C>A (p.Thr2551Lys) c.4322-464C>A (n.4322-464C>A) | |
11 | g.17635146C= | CA1955236953 | OTOG | c.7688C= (p.Thr2563=) c.7652C= (p.Thr2551=) c.4322-464C= (n.4322-464C=) | |
11 | g.17635146C>G | CA379813042 | OTOG | c.7688C>G (p.Thr2563Arg) c.7652C>G (p.Thr2551Arg) c.4322-464C>G (n.4322-464C>G) | |
11 | g.17635146C>T | CA218499011 | OTOG | c.7688C>T (p.Thr2563Met) c.7652C>T (p.Thr2551Met) c.4322-464C>T (n.4322-464C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17635147G>A | CA5906157 | OTOG | c.7689G>A (p.Thr2563=) c.7653G>A (p.Thr2551=) c.4322-463G>A (n.4322-463G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17635147G>C | CA218499019 | OTOG | c.7689G>C (p.Thr2563=) c.7653G>C (p.Thr2551=) c.4322-463G>C (n.4322-463G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17635147G= | CA1955236954 | OTOG | c.7689G= (p.Thr2563=) c.7653G= (p.Thr2551=) c.4322-463G= (n.4322-463G=) | |
11 | g.17635147G>T | CA473310927 | OTOG | c.7689G>T (p.Thr2563=) c.7653G>T (p.Thr2551=) c.4322-463G>T (n.4322-463G>T) | |
11 | g.17635148G>A | CA379813043 | OTOG | c.7690G>A (p.Gly2564Ser) c.7654G>A (p.Gly2552Ser) c.4322-462G>A (n.4322-462G>A) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17635148G>C | CA379813044 | OTOG | c.7690G>C (p.Gly2564Arg) c.7654G>C (p.Gly2552Arg) c.4322-462G>C (n.4322-462G>C) | |
11 | g.17635148G= | CA1955236955 | OTOG | c.7690G= (p.Gly2564=) c.7654G= (p.Gly2552=) c.4322-462G= (n.4322-462G=) | |
11 | g.17635148G>T | CA379813045 | OTOG | c.7690G>T (p.Gly2564Cys) c.7654G>T (p.Gly2552Cys) c.4322-462G>T (n.4322-462G>T) | gnomAD v4 |
11 | g.17635149G>A | CA379813046 | OTOG | c.7691G>A (p.Gly2564Asp) c.7655G>A (p.Gly2552Asp) c.4322-461G>A (n.4322-461G>A) | gnomAD v4 |
11 | g.17635149G>C | CA379813047 | OTOG | c.7691G>C (p.Gly2564Ala) c.7655G>C (p.Gly2552Ala) c.4322-461G>C (n.4322-461G>C) | |
11 | g.17635149G>T | CA379813048 | OTOG | c.7691G>T (p.Gly2564Val) c.7655G>T (p.Gly2552Val) c.4322-461G>T (n.4322-461G>T) | gnomAD v4 |
11 | g.17635150C>A | CA473310928 | OTOG | c.7692C>A (p.Gly2564=) c.7656C>A (p.Gly2552=) c.4322-460C>A (n.4322-460C>A) | gnomAD v4 |
11 | g.17635150C>G | CA473310930 | OTOG | c.7692C>G (p.Gly2564=) c.7656C>G (p.Gly2552=) c.4322-460C>G (n.4322-460C>G) | |
11 | g.17635150C>T | CA473310929 | OTOG | c.7692C>T (p.Gly2564=) c.7656C>T (p.Gly2552=) c.4322-460C>T (n.4322-460C>T) | gnomAD v4 |
11 | g.17635151C>A | CA379813049 | OTOG | c.7693C>A (p.Arg2565Ser) c.7657C>A (p.Arg2553Ser) c.4322-459C>A (n.4322-459C>A) | |
11 | g.17635151C= | CA1955236956 | OTOG | c.7693C= (p.Arg2565=) c.7657C= (p.Arg2553=) c.4322-459C= (n.4322-459C=) | |
11 | g.17635151C>G | CA379813050 | OTOG | c.7693C>G (p.Arg2565Gly) c.7657C>G (p.Arg2553Gly) c.4322-459C>G (n.4322-459C>G) | |
11 | g.17635151C>T | CA379813051 | OTOG | c.7693C>T (p.Arg2565Cys) c.7657C>T (p.Arg2553Cys) c.4322-459C>T (n.4322-459C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17635152G>A | CA5906159 | OTOG | c.7694G>A (p.Arg2565His) c.7658G>A (p.Arg2553His) c.4322-458G>A (n.4322-458G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17635152G>C | CA5906158 | OTOG | c.7694G>C (p.Arg2565Pro) c.7658G>C (p.Arg2553Pro) c.4322-458G>C (n.4322-458G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17635152G= | CA1955236957 | OTOG | c.7694G= (p.Arg2565=) c.7658G= (p.Arg2553=) c.4322-458G= (n.4322-458G=) | |
11 | g.17635152G>T | CA379813052 | OTOG | c.7694G>T (p.Arg2565Leu) c.7658G>T (p.Arg2553Leu) c.4322-458G>T (n.4322-458G>T) | gnomAD v4 |
11 | g.17635153_17635156del | CA2612690236 | OTOG | c.7695_7698del (p.Leu2566GlyfsTer?) c.7659_7662del (p.Leu2554GlyfsTer?) c.4322-457_4322-454del (n.4322-457_4322-454del) | gnomAD v4 |
11 | g.17635153C>A | CA473310931 | OTOG | c.7695C>A (p.Arg2565=) c.7659C>A (p.Arg2553=) c.4322-457C>A (n.4322-457C>A) | |
11 | g.17635153C= | CA1955236958 | OTOG | c.7695C= (p.Arg2565=) c.7659C= (p.Arg2553=) c.4322-457C= (n.4322-457C=) | |
11 | g.17635153C>G | CA473310932 | OTOG | c.7695C>G (p.Arg2565=) c.7659C>G (p.Arg2553=) c.4322-457C>G (n.4322-457C>G) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17635153C>T | CA473310933 | OTOG | c.7695C>T (p.Arg2565=) c.7659C>T (p.Arg2553=) c.4322-457C>T (n.4322-457C>T) | gnomAD v4 |
11 | g.17635154C>A | CA379813054 | OTOG | c.7696C>A (p.Leu2566Met) c.7660C>A (p.Leu2554Met) c.4322-456C>A (n.4322-456C>A) | |
11 | g.17635154C= | CA1955236959 | OTOG | c.7696C= (p.Leu2566=) c.7660C= (p.Leu2554=) c.4322-456C= (n.4322-456C=) | |
11 | g.17635154C>G | CA379813053 | OTOG | c.7696C>G (p.Leu2566Val) c.7660C>G (p.Leu2554Val) c.4322-456C>G (n.4322-456C>G) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17635154C>T | CA473310934 | OTOG | c.7696C>T (p.Leu2566=) c.7660C>T (p.Leu2554=) c.4322-456C>T (n.4322-456C>T) | gnomAD v4 |
11 | g.17635155T>A | CA379813055 | OTOG | c.7697T>A (p.Leu2566Gln) c.7661T>A (p.Leu2554Gln) c.4322-455T>A (n.4322-455T>A) | gnomAD v4 |
11 | g.17635155T>C | CA379813056 | OTOG | c.7697T>C (p.Leu2566Pro) c.7661T>C (p.Leu2554Pro) c.4322-455T>C (n.4322-455T>C) | gnomAD v4 |
11 | g.17635155T>G | CA379813057 | OTOG | c.7697T>G (p.Leu2566Arg) c.7661T>G (p.Leu2554Arg) c.4322-455T>G (n.4322-455T>G) | |
11 | g.17635156G>A | CA473310935 | OTOG | c.7698G>A (p.Leu2566=) c.7662G>A (p.Leu2554=) c.4322-454G>A (n.4322-454G>A) | |
11 | g.17635156G>C | CA473310936 | OTOG | c.7698G>C (p.Leu2566=) c.7662G>C (p.Leu2554=) c.4322-454G>C (n.4322-454G>C) | |
11 | g.17635156G= | CA1955236960 | OTOG | c.7698G= (p.Leu2566=) c.7662G= (p.Leu2554=) c.4322-454G= (n.4322-454G=) | |
11 | g.17635156G>T | CA473310937 | OTOG | c.7698G>T (p.Leu2566=) c.7662G>T (p.Leu2554=) c.4322-454G>T (n.4322-454G>T) | dbSNP gnomAD v4 |
11 | g.17635160dup | CA2612690249 | OTOG | c.7702dup (p.Asp2568GlyfsTer13) c.7666dup (p.Asp2556GlyfsTer13) c.4322-450dup (n.4322-450dup) | gnomAD v4 |
11 | g.17635160del | CA2530002804 | OTOG | c.7702del (p.Asp2568ThrfsTer?) c.7666del (p.Asp2556ThrfsTer?) c.4322-450del (n.4322-450del) | dbSNP gnomAD v4 |
11 | g.17635157G>A | CA379813058 | OTOG | c.7699G>A (p.Gly2567Arg) c.7663G>A (p.Gly2555Arg) c.4322-453G>A (n.4322-453G>A) | |
11 | g.17635157G>C | CA379813059 | OTOG | c.7699G>C (p.Gly2567Arg) c.7663G>C (p.Gly2555Arg) c.4322-453G>C (n.4322-453G>C) | |
11 | g.17635157G= | CA1955236961 | OTOG | c.7699G= (p.Gly2567=) c.7663G= (p.Gly2555=) c.4322-453G= (n.4322-453G=) | |
11 | g.17635157G>T | CA379813060 | OTOG | c.7699G>T (p.Gly2567Trp) c.7663G>T (p.Gly2555Trp) c.4322-453G>T (n.4322-453G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17635158G>A | CA379813061 | OTOG | c.7700G>A (p.Gly2567Glu) c.7664G>A (p.Gly2555Glu) c.4322-452G>A (n.4322-452G>A) | |
11 | g.17635158G>C | CA379813062 | OTOG | c.7700G>C (p.Gly2567Ala) c.7664G>C (p.Gly2555Ala) c.4322-452G>C (n.4322-452G>C) | |
11 | g.17635158G>T | CA379813063 | OTOG | c.7700G>T (p.Gly2567Val) c.7664G>T (p.Gly2555Val) c.4322-452G>T (n.4322-452G>T) | gnomAD v4 |
11 | g.17635159G>A | CA473310938 | OTOG | c.7701G>A (p.Gly2567=) c.7665G>A (p.Gly2555=) c.4322-451G>A (n.4322-451G>A) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17635159G>C | CA473310939 | OTOG | c.7701G>C (p.Gly2567=) c.7665G>C (p.Gly2555=) c.4322-451G>C (n.4322-451G>C) | gnomAD v4 |
11 | g.17635159G= | CA1955236962 | OTOG | c.7701G= (p.Gly2567=) c.7665G= (p.Gly2555=) c.4322-451G= (n.4322-451G=) | |
11 | g.17635159G>T | CA473310940 | OTOG | c.7701G>T (p.Gly2567=) c.7665G>T (p.Gly2555=) c.4322-451G>T (n.4322-451G>T) | gnomAD v4 |
11 | g.17635160_17635170dup | CA2574771157 | OTOG | c.7702_7712dup (p.Cys2571TrpfsTer?) c.7666_7676dup (p.Cys2559TrpfsTer?) c.4322-450_4322-440dup (n.4322-450_4322-440dup) | gnomAD v4 |
11 | g.17635160G>A | CA379813064 | OTOG | c.7702G>A (p.Asp2568Asn) c.7666G>A (p.Asp2556Asn) c.4322-450G>A (n.4322-450G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17635160G>C | CA379813065 | OTOG | c.7702G>C (p.Asp2568His) c.7666G>C (p.Asp2556His) c.4322-450G>C (n.4322-450G>C) | |
11 | g.17635160G= | CA1955236963 | OTOG | c.7702G= (p.Asp2568=) c.7666G= (p.Asp2556=) c.4322-450G= (n.4322-450G=) | |
11 | g.17635160G>T | CA379813066 | OTOG | c.7702G>T (p.Asp2568Tyr) c.7666G>T (p.Asp2556Tyr) c.4322-450G>T (n.4322-450G>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17635161A= | CA1955236964 | OTOG | c.7703A= (p.Asp2568=) c.7667A= (p.Asp2556=) c.4322-449A= (n.4322-449A=) | |
11 | g.17635161A>C | CA379813068 | OTOG | c.7703A>C (p.Asp2568Ala) c.7667A>C (p.Asp2556Ala) c.4322-449A>C (n.4322-449A>C) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17635161A>G | CA379813069 | OTOG | c.7703A>G (p.Asp2568Gly) c.7667A>G (p.Asp2556Gly) c.4322-449A>G (n.4322-449A>G) | gnomAD v4 |
11 | g.17635161A>T | CA379813067 | OTOG | c.7703A>T (p.Asp2568Val) c.7667A>T (p.Asp2556Val) c.4322-449A>T (n.4322-449A>T) | |
11 | g.17635162C>A | CA379813070 | OTOG | c.7704C>A (p.Asp2568Glu) c.7668C>A (p.Asp2556Glu) c.4322-448C>A (n.4322-448C>A) | gnomAD v4 |
11 | g.17635162C= | CA1955236965 | OTOG | c.7704C= (p.Asp2568=) c.7668C= (p.Asp2556=) c.4322-448C= (n.4322-448C=) | |
11 | g.17635162C>G | CA379813071 | OTOG | c.7704C>G (p.Asp2568Glu) c.7668C>G (p.Asp2556Glu) c.4322-448C>G (n.4322-448C>G) | gnomAD v4 |
11 | g.17635162C>T | CA218499061 | OTOG | c.7704C>T (p.Asp2568=) c.7668C>T (p.Asp2556=) c.4322-448C>T (n.4322-448C>T) | dbSNP gnomAD v4 |
11 | g.17635163T>A | CA379813072 | OTOG | c.7705T>A (p.Ser2569Thr) c.7669T>A (p.Ser2557Thr) c.4322-447T>A (n.4322-447T>A) | |
11 | g.17635163T>C | CA379813073 | OTOG | c.7705T>C (p.Ser2569Pro) c.7669T>C (p.Ser2557Pro) c.4322-447T>C (n.4322-447T>C) | |
11 | g.17635163T>G | CA379813074 | OTOG | c.7705T>G (p.Ser2569Ala) c.7669T>G (p.Ser2557Ala) c.4322-447T>G (n.4322-447T>G) | |
11 | g.17635163_17635164delinsTC | CA1955236966 | OTOG | c.7705_7706delinsTC (p.Ser2569=) c.7669_7670delinsTC (p.Ser2557=) c.4322-447_4322-446delinsTC (n.4322-447_4322-446delinsTC) | |
11 | g.17635164C>A | CA379813075 | OTOG | c.7706C>A (p.Ser2569Tyr) c.7670C>A (p.Ser2557Tyr) c.4322-446C>A (n.4322-446C>A) | |
11 | g.17635164C= | CA1955236967 | OTOG | c.7706C= (p.Ser2569=) c.7670C= (p.Ser2557=) c.4322-446C= (n.4322-446C=) | |
11 | g.17635164C>G | CA379813076 | OTOG | c.7706C>G (p.Ser2569Cys) c.7670C>G (p.Ser2557Cys) c.4322-446C>G (n.4322-446C>G) | |
11 | g.17635164C>T | CA379813077 | OTOG | c.7706C>T (p.Ser2569Phe) c.7670C>T (p.Ser2557Phe) c.4322-446C>T (n.4322-446C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17635165del | CA597675853 | OTOG | c.7707del (p.Cys2570AlafsTer?) c.7671del (p.Cys2558AlafsTer?) c.4322-445del (n.4322-445del) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17635165C>A | CA473310941 | OTOG | c.7707C>A (p.Ser2569=) c.7671C>A (p.Ser2557=) c.4322-445C>A (n.4322-445C>A) | |
11 | g.17635165C>G | CA473310942 | OTOG | c.7707C>G (p.Ser2569=) c.7671C>G (p.Ser2557=) c.4322-445C>G (n.4322-445C>G) | |
11 | g.17635165C>T | CA473310943 | OTOG | c.7707C>T (p.Ser2569=) c.7671C>T (p.Ser2557=) c.4322-445C>T (n.4322-445C>T) | gnomAD v4 |
11 | g.17635169_17635171del | CA2612690265 | OTOG | c.7711_7713del (p.Cys2571del) c.7675_7677del (p.Cys2559del) c.4322-441_4322-439del (n.4322-441_4322-439del) | gnomAD v4 |
11 | g.17635166T>A | CA379813078 | OTOG | c.7708T>A (p.Cys2570Ser) c.7672T>A (p.Cys2558Ser) c.4322-444T>A (n.4322-444T>A) | |
11 | g.17635166T>C | CA379813079 | OTOG | c.7708T>C (p.Cys2570Arg) c.7672T>C (p.Cys2558Arg) c.4322-444T>C (n.4322-444T>C) | |
11 | g.17635166T>G | CA379813080 | OTOG | c.7708T>G (p.Cys2570Gly) c.7672T>G (p.Cys2558Gly) c.4322-444T>G (n.4322-444T>G) | |
11 | g.17635167G>A | CA379813081 | OTOG | c.7709G>A (p.Cys2570Tyr) c.7673G>A (p.Cys2558Tyr) c.4322-443G>A (n.4322-443G>A) | gnomAD v4 |
11 | g.17635167G>C | CA379813082 | OTOG | c.7709G>C (p.Cys2570Ser) c.7673G>C (p.Cys2558Ser) c.4322-443G>C (n.4322-443G>C) | |
11 | g.17635167G>T | CA379813083 | OTOG | c.7709G>T (p.Cys2570Phe) c.7673G>T (p.Cys2558Phe) c.4322-443G>T (n.4322-443G>T) | gnomAD v4 |
11 | g.17635168C>A | CA379813084 | OTOG | c.7710C>A (p.Cys2570Ter) c.7674C>A (p.Cys2558Ter) c.4322-442C>A (n.4322-442C>A) | |
11 | g.17635168C>G | CA379813085 | OTOG | c.7710C>G (p.Cys2570Trp) c.7674C>G (p.Cys2558Trp) c.4322-442C>G (n.4322-442C>G) | |
11 | g.17635168C>T | CA473310944 | OTOG | c.7710C>T (p.Cys2570=) c.7674C>T (p.Cys2558=) c.4322-442C>T (n.4322-442C>T) | gnomAD v4 |
11 | g.17635169T>A | CA379813086 | OTOG | c.7711T>A (p.Cys2571Ser) c.7675T>A (p.Cys2559Ser) c.4322-441T>A (n.4322-441T>A) | |
11 | g.17635169T>C | CA379813087 | OTOG | c.7711T>C (p.Cys2571Arg) c.7675T>C (p.Cys2559Arg) c.4322-441T>C (n.4322-441T>C) | |
11 | g.17635169T>G | CA379813088 | OTOG | c.7711T>G (p.Cys2571Gly) c.7675T>G (p.Cys2559Gly) c.4322-441T>G (n.4322-441T>G) | |
11 | g.17635170G>A | CA379813089 | OTOG | c.7712G>A (p.Cys2571Tyr) c.7676G>A (p.Cys2559Tyr) c.4322-440G>A (n.4322-440G>A) | gnomAD v4 |
11 | g.17635170G>C | CA379813090 | OTOG | c.7712G>C (p.Cys2571Ser) c.7676G>C (p.Cys2559Ser) c.4322-440G>C (n.4322-440G>C) | dbSNP gnomAD v4 |
11 | g.17635170G= | CA1955236968 | OTOG | c.7712G= (p.Cys2571=) c.7676G= (p.Cys2559=) c.4322-440G= (n.4322-440G=) | |
11 | g.17635170G>T | CA379813091 | OTOG | c.7712G>T (p.Cys2571Phe) c.7676G>T (p.Cys2559Phe) c.4322-440G>T (n.4322-440G>T) | gnomAD v4 |
11 | g.17635171C>A | CA379813092 | OTOG | c.7713C>A (p.Cys2571Ter) c.7677C>A (p.Cys2559Ter) c.4322-439C>A (n.4322-439C>A) | |
11 | g.17635171C= | CA1955236969 | OTOG | c.7713C= (p.Cys2571=) c.7677C= (p.Cys2559=) c.4322-439C= (n.4322-439C=) | |
11 | g.17635171C>G | CA379813093 | OTOG | c.7713C>G (p.Cys2571Trp) c.7677C>G (p.Cys2559Trp) c.4322-439C>G (n.4322-439C>G) | |
11 | g.17635171C>T | CA218499074 | OTOG | c.7713C>T (p.Cys2571=) c.7677C>T (p.Cys2559=) c.4322-439C>T (n.4322-439C>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17635172A>C | CA379813094 | OTOG | c.7714A>C (p.Thr2572Pro) c.7678A>C (p.Thr2560Pro) c.4322-438A>C (n.4322-438A>C) | gnomAD v3 gnomAD v4 |
11 | g.17635172A>G | CA379813095 | OTOG | c.7714A>G (p.Thr2572Ala) c.7678A>G (p.Thr2560Ala) c.4322-438A>G (n.4322-438A>G) | |
11 | g.17635172A>T | CA379813096 | OTOG | c.7714A>T (p.Thr2572Ser) c.7678A>T (p.Thr2560Ser) c.4322-438A>T (n.4322-438A>T) | |
11 | g.17635173C>A | CA379813097 | OTOG | c.7715C>A (p.Thr2572Asn) c.7679C>A (p.Thr2560Asn) c.4322-437C>A (n.4322-437C>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17635173C= | CA1955236970 | OTOG | c.7715C= (p.Thr2572=) c.7679C= (p.Thr2560=) c.4322-437C= (n.4322-437C=) | |
11 | g.17635173C>G | CA379813098 | OTOG | c.7715C>G (p.Thr2572Ser) c.7679C>G (p.Thr2560Ser) c.4322-437C>G (n.4322-437C>G) | |
11 | g.17635173C>T | CA218499083 | OTOG | c.7715C>T (p.Thr2572Ile) c.7679C>T (p.Thr2560Ile) c.4322-437C>T (n.4322-437C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17635174C>A | CA473310945 | OTOG | c.7716C>A (p.Thr2572=) c.7680C>A (p.Thr2560=) c.4322-436C>A (n.4322-436C>A) | |
11 | g.17635174C= | CA1955236971 | OTOG | c.7716C= (p.Thr2572=) c.7680C= (p.Thr2560=) c.4322-436C= (n.4322-436C=) | |
11 | g.17635174C>G | CA473310946 | OTOG | c.7716C>G (p.Thr2572=) c.7680C>G (p.Thr2560=) c.4322-436C>G (n.4322-436C>G) | |
11 | g.17635174C>T | CA473310947 | OTOG | c.7716C>T (p.Thr2572=) c.7680C>T (p.Thr2560=) c.4322-436C>T (n.4322-436C>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17635175T>A | CA379813100 | OTOG | c.7717T>A (p.Ser2573Thr) c.7681T>A (p.Ser2561Thr) c.4322-435T>A (n.4322-435T>A) | gnomAD v4 |
11 | g.17635175T>C | CA379813101 | OTOG | c.7717T>C (p.Ser2573Pro) c.7681T>C (p.Ser2561Pro) c.4322-435T>C (n.4322-435T>C) | gnomAD v4 |
11 | g.17635175T>G | CA379813099 | OTOG | c.7717T>G (p.Ser2573Ala) c.7681T>G (p.Ser2561Ala) c.4322-435T>G (n.4322-435T>G) | |
11 | g.17635176C>A | CA379813104 | OTOG | c.7718C>A (p.Ser2573Tyr) c.7682C>A (p.Ser2561Tyr) c.4322-434C>A (n.4322-434C>A) | |
11 | g.17635176C= | CA1955236972 | OTOG | c.7718C= (p.Ser2573=) c.7682C= (p.Ser2561=) c.4322-434C= (n.4322-434C=) | |
11 | g.17635176C>G | CA379813102 | OTOG | c.7718C>G (p.Ser2573Cys) c.7682C>G (p.Ser2561Cys) c.4322-434C>G (n.4322-434C>G) | |
11 | g.17635176C>T | CA379813103 | OTOG | c.7718C>T (p.Ser2573Phe) c.7682C>T (p.Ser2561Phe) c.4322-434C>T (n.4322-434C>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17635177C>A | CA473310948 | OTOG | c.7719C>A (p.Ser2573=) c.7683C>A (p.Ser2561=) c.4322-433C>A (n.4322-433C>A) | |
11 | g.17635177C>G | CA473310949 | OTOG | c.7719C>G (p.Ser2573=) c.7683C>G (p.Ser2561=) c.4322-433C>G (n.4322-433C>G) | |
11 | g.17635177C>T | CA473310950 | OTOG | c.7719C>T (p.Ser2573=) c.7683C>T (p.Ser2561=) c.4322-433C>T (n.4322-433C>T) | |
11 | g.17635179_17635181del | CA2790598502 | OTOG | c.7721_7723del (p.Tyr2574del) c.7685_7687del (p.Tyr2562del) c.4322-431_4322-429del (n.4322-431_4322-429del) | |
11 | g.17635178T>A | CA379813105 | OTOG | c.7720T>A (p.Tyr2574Asn) c.7684T>A (p.Tyr2562Asn) c.4322-432T>A (n.4322-432T>A) | |
11 | g.17635178T>C | CA379813106 | OTOG | c.7720T>C (p.Tyr2574His) c.7684T>C (p.Tyr2562His) c.4322-432T>C (n.4322-432T>C) | gnomAD v4 |
11 | g.17635178T>G | CA379813107 | OTOG | c.7720T>G (p.Tyr2574Asp) c.7684T>G (p.Tyr2562Asp) c.4322-432T>G (n.4322-432T>G) | |
11 | g.17635179A= | CA1955236973 | OTOG | c.7721A= (p.Tyr2574=) c.7685A= (p.Tyr2562=) c.4322-431A= (n.4322-431A=) | |
11 | g.17635179A>C | CA379813108 | OTOG | c.7721A>C (p.Tyr2574Ser) c.7685A>C (p.Tyr2562Ser) c.4322-431A>C (n.4322-431A>C) | |
11 | g.17635179A>G | CA379813109 | OTOG | c.7721A>G (p.Tyr2574Cys) c.7685A>G (p.Tyr2562Cys) c.4322-431A>G (n.4322-431A>G) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17635179A>T | CA379813110 | OTOG | c.7721A>T (p.Tyr2574Phe) c.7685A>T (p.Tyr2562Phe) c.4322-431A>T (n.4322-431A>T) | |
11 | g.17635180C>A | CA379813111 | OTOG | c.7722C>A (p.Tyr2574Ter) c.7686C>A (p.Tyr2562Ter) c.4322-430C>A (n.4322-430C>A) | COSMIC COSMIC |
11 | g.17635180C= | CA1955236974 | OTOG | c.7722C= (p.Tyr2574=) c.7686C= (p.Tyr2562=) c.4322-430C= (n.4322-430C=) | |
11 | g.17635180C>G | CA379813112 | OTOG | c.7722C>G (p.Tyr2574Ter) c.7686C>G (p.Tyr2562Ter) c.4322-430C>G (n.4322-430C>G) | ClinVar dbSNP gnomAD v4 |
11 | g.17635180C>T | CA218499085 | OTOG | c.7722C>T (p.Tyr2574=) c.7686C>T (p.Tyr2562=) c.4322-430C>T (n.4322-430C>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17635181T>A | CA379813113 | OTOG | c.7723T>A (p.Phe2575Ile) c.7687T>A (p.Phe2563Ile) c.4322-429T>A (n.4322-429T>A) | |
11 | g.17635181T>C | CA379813114 | OTOG | c.7723T>C (p.Phe2575Leu) c.7687T>C (p.Phe2563Leu) c.4322-429T>C (n.4322-429T>C) | |
11 | g.17635181T>G | CA379813115 | OTOG | c.7723T>G (p.Phe2575Val) c.7687T>G (p.Phe2563Val) c.4322-429T>G (n.4322-429T>G) | |
11 | g.17635182T>A | CA379813118 | OTOG | c.7724T>A (p.Phe2575Tyr) c.7688T>A (p.Phe2563Tyr) c.4322-428T>A (n.4322-428T>A) | |
11 | g.17635182T>C | CA379813117 | OTOG | c.7724T>C (p.Phe2575Ser) c.7688T>C (p.Phe2563Ser) c.4322-428T>C (n.4322-428T>C) | |
11 | g.17635182T>G | CA379813116 | OTOG | c.7724T>G (p.Phe2575Cys) c.7688T>G (p.Phe2563Cys) c.4322-428T>G (n.4322-428T>G) | |
11 | g.17635183C>A | CA379813119 | OTOG | c.7725C>A (p.Phe2575Leu) c.7689C>A (p.Phe2563Leu) c.4322-427C>A (n.4322-427C>A) | |
11 | g.17635183C= | CA1955236975 | OTOG | c.7725C= (p.Phe2575=) c.7689C= (p.Phe2563=) c.4322-427C= (n.4322-427C=) | |
11 | g.17635183C>G | CA379813120 | OTOG | c.7725C>G (p.Phe2575Leu) c.7689C>G (p.Phe2563Leu) c.4322-427C>G (n.4322-427C>G) | |
11 | g.17635183C>T | CA473310951 | OTOG | c.7725C>T (p.Phe2575=) c.7689C>T (p.Phe2563=) c.4322-427C>T (n.4322-427C>T) | dbSNP |
11 | g.17635184T>A | CA379813121 | OTOG | c.7726T>A (p.Cys2576Ser) c.7690T>A (p.Cys2564Ser) c.4322-426T>A (n.4322-426T>A) | |
11 | g.17635184T>C | CA379813122 | OTOG | c.7726T>C (p.Cys2576Arg) c.7690T>C (p.Cys2564Arg) c.4322-426T>C (n.4322-426T>C) | gnomAD v4 |
11 | g.17635184T>G | CA379813123 | OTOG | c.7726T>G (p.Cys2576Gly) c.7690T>G (p.Cys2564Gly) c.4322-426T>G (n.4322-426T>G) | |
11 | g.17635185G>A | CA379813124 | OTOG | c.7727G>A (p.Cys2576Tyr) c.7691G>A (p.Cys2564Tyr) c.4322-425G>A (n.4322-425G>A) | |
11 | g.17635185G>C | CA379813125 | OTOG | c.7727G>C (p.Cys2576Ser) c.7691G>C (p.Cys2564Ser) c.4322-425G>C (n.4322-425G>C) | |
11 | g.17635185G>T | CA379813126 | OTOG | c.7727G>T (p.Cys2576Phe) c.7691G>T (p.Cys2564Phe) c.4322-425G>T (n.4322-425G>T) | gnomAD v4 |
11 | g.17635186C>A | CA379813127 | OTOG | c.7728C>A (p.Cys2576Ter) c.7692C>A (p.Cys2564Ter) c.4322-424C>A (n.4322-424C>A) | gnomAD v4 |
11 | g.17635186C= | CA1955236976 | OTOG | c.7728C= (p.Cys2576=) c.7692C= (p.Cys2564=) c.4322-424C= (n.4322-424C=) | |
11 | g.17635186C>G | CA379813128 | OTOG | c.7728C>G (p.Cys2576Trp) c.7692C>G (p.Cys2564Trp) c.4322-424C>G (n.4322-424C>G) | |
11 | g.17635186C>T | CA5906160 | OTOG | c.7728C>T (p.Cys2576=) c.7692C>T (p.Cys2564=) c.4322-424C>T (n.4322-424C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.17635187G>A | CA5906161 | OTOG | c.7729G>A (p.Ala2577Thr) c.7693G>A (p.Ala2565Thr) c.4322-423G>A (n.4322-423G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17635187G>C | CA379813129 | OTOG | c.7729G>C (p.Ala2577Pro) c.7693G>C (p.Ala2565Pro) c.4322-423G>C (n.4322-423G>C) | |
11 | g.17635187G= | CA1955236977 | OTOG | c.7729G= (p.Ala2577=) c.7693G= (p.Ala2565=) c.4322-423G= (n.4322-423G=) | |
11 | g.17635187G>T | CA379813130 | OTOG | c.7729G>T (p.Ala2577Ser) c.7693G>T (p.Ala2565Ser) c.4322-423G>T (n.4322-423G>T) | gnomAD v4 |
11 | g.17635188G>A | CA5906162 | OTOG | c.7729+1G>A (n.7729+1G>A) c.7693+1G>A (n.7693+1G>A) c.4322-422G>A (n.4322-422G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17635188G>C | CA379813131 | OTOG | c.7729+1G>C (n.7729+1G>C) c.7693+1G>C (n.7693+1G>C) c.4322-422G>C (n.4322-422G>C) | |
11 | g.17635188G= | CA1955236978 | OTOG | c.7729+1G= (n.7729+1G=) c.7693+1G= (n.7693+1G=) c.4322-422G= (n.4322-422G=) | |
11 | g.17635188G>T | CA218499100 | OTOG | c.7729+1G>T (n.7729+1G>T) c.7693+1G>T (n.7693+1G>T) c.4322-422G>T (n.4322-422G>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17635189T>A | CA379813132 | OTOG | c.7729+2T>A (n.7729+2T>A) c.7693+2T>A (n.7693+2T>A) c.4322-421T>A (n.4322-421T>A) | |
11 | g.17635189T>C | CA379813133 | OTOG | c.7729+2T>C (n.7729+2T>C) c.7693+2T>C (n.7693+2T>C) c.4322-421T>C (n.4322-421T>C) | gnomAD v4 |
11 | g.17635189T>G | CA379813134 | OTOG | c.7729+2T>G (n.7729+2T>G) c.7693+2T>G (n.7693+2T>G) c.4322-421T>G (n.4322-421T>G) | |
11 | g.17635190G>A | CA218499103 | OTOG | c.7729+3G>A (n.7729+3G>A) c.7693+3G>A (n.7693+3G>A) c.4322-420G>A (n.4322-420G>A) | dbSNP gnomAD v4 |
11 | g.17635190G= | CA1955236979 | OTOG | c.7729+3G= (n.7729+3G=) c.7693+3G= (n.7693+3G=) c.4322-420G= (n.4322-420G=) | |
11 | g.17635190G>T | CA2612690282 | OTOG | c.7729+3G>T (n.7729+3G>T) c.7693+3G>T (n.7693+3G>T) c.4322-420G>T (n.4322-420G>T) | gnomAD v4 |
11 | g.17635192del | CA2574771158 | OTOG | c.7729+5del (n.7729+5del) c.7693+5del (n.7693+5del) c.4322-418del (n.4322-418del) | |
11 | g.17635191G>A | CA2612690283 | OTOG | c.7729+4G>A (n.7729+4G>A) c.7693+4G>A (n.7693+4G>A) c.4322-419G>A (n.4322-419G>A) | gnomAD v4 |
11 | g.17635191G>T | CA2612690284 | OTOG | c.7729+4G>T (n.7729+4G>T) c.7693+4G>T (n.7693+4G>T) c.4322-419G>T (n.4322-419G>T) | gnomAD v4 |
11 | g.17635192G>A | CA2574771159 | OTOG | c.7729+5G>A (n.7729+5G>A) c.7693+5G>A (n.7693+5G>A) c.4322-418G>A (n.4322-418G>A) | gnomAD v4 |
11 | g.17635192G>C | CA2574771160 | OTOG | c.7729+5G>C (n.7729+5G>C) c.7693+5G>C (n.7693+5G>C) c.4322-418G>C (n.4322-418G>C) | gnomAD v4 |
11 | g.17635193T>G | CA1955236981 | OTOG | c.7729+6T>G (n.7729+6T>G) c.7693+6T>G (n.7693+6T>G) c.4322-417T>G (n.4322-417T>G) | dbSNP |
11 | g.17635193T= | CA1955236980 | OTOG | c.7729+6T= (n.7729+6T=) c.7693+6T= (n.7693+6T=) c.4322-417T= (n.4322-417T=) | |
11 | g.17635194C>A | CA2574771161 | OTOG | c.7729+7C>A (n.7729+7C>A) c.7693+7C>A (n.7693+7C>A) c.4322-416C>A (n.4322-416C>A) | gnomAD v4 |
11 | g.17635194C= | CA1955236982 | OTOG | c.7729+7C= (n.7729+7C=) c.7693+7C= (n.7693+7C=) c.4322-416C= (n.4322-416C=) | |
11 | g.17635194C>G | CA935545267 | OTOG | c.7729+7C>G (n.7729+7C>G) c.7693+7C>G (n.7693+7C>G) c.4322-416C>G (n.4322-416C>G) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17635194C>T | CA597675854 | OTOG | c.7729+7C>T (n.7729+7C>T) c.7693+7C>T (n.7693+7C>T) c.4322-416C>T (n.4322-416C>T) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
11 | g.17635198_17635200del | CA2612690287 | OTOG | c.7729+11_7729+13del (n.7729+11_7729+13del) c.7693+11_7693+13del (n.7693+11_7693+13del) c.4322-412_4322-410del (n.4322-412_4322-410del) | gnomAD v4 |
11 | g.17635195G>A | CA597675855 | OTOG | c.7729+8G>A (n.7729+8G>A) c.7693+8G>A (n.7693+8G>A) c.4322-415G>A (n.4322-415G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.17635195G= | CA1955236983 | OTOG | c.7729+8G= (n.7729+8G=) c.7693+8G= (n.7693+8G=) c.4322-415G= (n.4322-415G=) | |
11 | g.17635195G>T | CA2612690288 | OTOG | c.7729+8G>T (n.7729+8G>T) c.7693+8G>T (n.7693+8G>T) c.4322-415G>T (n.4322-415G>T) | gnomAD v4 |