Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.17632216T>A | CA473310157 | OTOG | c.7098T>A (p.Ser2366=) c.7062T>A (p.Ser2354=) c.4116T>A (p.Ser1372=) | |
11 | g.17632216T>C | CA5906094 | OTOG | c.7098T>C (p.Ser2366=) c.7062T>C (p.Ser2354=) c.4116T>C (p.Ser1372=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17632216T>G | CA473310158 | OTOG | c.7098T>G (p.Ser2366=) c.7062T>G (p.Ser2354=) c.4116T>G (p.Ser1372=) | |
11 | g.17632216T= | CA1955235548 | OTOG | c.7098T= (p.Ser2366=) c.7062T= (p.Ser2354=) c.4116T= (p.Ser1372=) | |
11 | g.17632216dup | CA674252959 | OTOG | c.7098dup (p.Asp2367Ter) c.7062dup (p.Asp2355Ter) c.4116dup (p.Asp1373Ter) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17632216_17632223del | CA2567807523 | OTOG | c.7098_7105del (p.Asp2367ProfsTer18) c.7062_7069del (p.Asp2355ProfsTer18) c.4116_4123del (p.Asp1373ProfsTer18) | |
11 | g.17632217G>A | CA379810887 | OTOG | c.7099G>A (p.Asp2367Asn) c.7063G>A (p.Asp2355Asn) c.4117G>A (p.Asp1373Asn) | |
11 | g.17632217G>C | CA379810889 | OTOG | c.7099G>C (p.Asp2367His) c.7063G>C (p.Asp2355His) c.4117G>C (p.Asp1373His) | |
11 | g.17632217G>T | CA379810891 | OTOG | c.7099G>T (p.Asp2367Tyr) c.7063G>T (p.Asp2355Tyr) c.4117G>T (p.Asp1373Tyr) | gnomAD v4 |
11 | g.17632218A>C | CA379810895 | OTOG | c.7100A>C (p.Asp2367Ala) c.7064A>C (p.Asp2355Ala) c.4118A>C (p.Asp1373Ala) | |
11 | g.17632218A>G | CA379810894 | OTOG | c.7100A>G (p.Asp2367Gly) c.7064A>G (p.Asp2355Gly) c.4118A>G (p.Asp1373Gly) | |
11 | g.17632218A>T | CA379810893 | OTOG | c.7100A>T (p.Asp2367Val) c.7064A>T (p.Asp2355Val) c.4118A>T (p.Asp1373Val) | |
11 | g.17632219C>A | CA379810896 | OTOG | c.7101C>A (p.Asp2367Glu) c.7065C>A (p.Asp2355Glu) c.4119C>A (p.Asp1373Glu) | |
11 | g.17632219C>G | CA379810897 | OTOG | c.7101C>G (p.Asp2367Glu) c.7065C>G (p.Asp2355Glu) c.4119C>G (p.Asp1373Glu) | |
11 | g.17632219C>T | CA473310159 | OTOG | c.7101C>T (p.Asp2367=) c.7065C>T (p.Asp2355=) c.4119C>T (p.Asp1373=) | |
11 | g.17632220T>A | CA379810898 | OTOG | c.7102T>A (p.Tyr2368Asn) c.7066T>A (p.Tyr2356Asn) c.4120T>A (p.Tyr1374Asn) | |
11 | g.17632220T>C | CA218496335 | OTOG | c.7102T>C (p.Tyr2368His) c.7066T>C (p.Tyr2356His) c.4120T>C (p.Tyr1374His) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17632220T>G | CA379810900 | OTOG | c.7102T>G (p.Tyr2368Asp) c.7066T>G (p.Tyr2356Asp) c.4120T>G (p.Tyr1374Asp) | |
11 | g.17632220T= | CA1955235549 | OTOG | c.7102T= (p.Tyr2368=) c.7066T= (p.Tyr2356=) c.4120T= (p.Tyr1374=) | |
11 | g.17632221A= | CA1955235550 | OTOG | c.7103A= (p.Tyr2368=) c.7067A= (p.Tyr2356=) c.4121A= (p.Tyr1374=) | |
11 | g.17632221A>C | CA218496336 | OTOG | c.7103A>C (p.Tyr2368Ser) c.7067A>C (p.Tyr2356Ser) c.4121A>C (p.Tyr1374Ser) | dbSNP |
11 | g.17632221A>G | CA379810901 | OTOG | c.7103A>G (p.Tyr2368Cys) c.7067A>G (p.Tyr2356Cys) c.4121A>G (p.Tyr1374Cys) | |
11 | g.17632221A>T | CA379810902 | OTOG | c.7103A>T (p.Tyr2368Phe) c.7067A>T (p.Tyr2356Phe) c.4121A>T (p.Tyr1374Phe) | |
11 | g.17632222C>A | CA379810904 | OTOG | c.7104C>A (p.Tyr2368Ter) c.7068C>A (p.Tyr2356Ter) c.4122C>A (p.Tyr1374Ter) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17632222C= | CA1955235551 | OTOG | c.7104C= (p.Tyr2368=) c.7068C= (p.Tyr2356=) c.4122C= (p.Tyr1374=) | |
11 | g.17632222C>G | CA379810905 | OTOG | c.7104C>G (p.Tyr2368Ter) c.7068C>G (p.Tyr2356Ter) c.4122C>G (p.Tyr1374Ter) | |
11 | g.17632222C>T | CA473310160 | OTOG | c.7104C>T (p.Tyr2368=) c.7068C>T (p.Tyr2356=) c.4122C>T (p.Tyr1374=) | |
11 | g.17632223T>A | CA379810906 | OTOG | c.7105T>A (p.Cys2369Ser) c.7069T>A (p.Cys2357Ser) c.4123T>A (p.Cys1375Ser) | |
11 | g.17632223T>C | CA379810908 | OTOG | c.7105T>C (p.Cys2369Arg) c.7069T>C (p.Cys2357Arg) c.4123T>C (p.Cys1375Arg) | |
11 | g.17632223T>G | CA379810909 | OTOG | c.7105T>G (p.Cys2369Gly) c.7069T>G (p.Cys2357Gly) c.4123T>G (p.Cys1375Gly) | |
11 | g.17632224G>A | CA379810916 | OTOG | c.7106G>A (p.Cys2369Tyr) c.7070G>A (p.Cys2357Tyr) c.4124G>A (p.Cys1375Tyr) | |
11 | g.17632224G>C | CA379810917 | OTOG | c.7106G>C (p.Cys2369Ser) c.7070G>C (p.Cys2357Ser) c.4124G>C (p.Cys1375Ser) | |
11 | g.17632224G>T | CA379810914 | OTOG | c.7106G>T (p.Cys2369Phe) c.7070G>T (p.Cys2357Phe) c.4124G>T (p.Cys1375Phe) | gnomAD v4 |
11 | g.17632225C>A | CA379810921 | OTOG | c.7107C>A (p.Cys2369Ter) c.7071C>A (p.Cys2357Ter) c.4125C>A (p.Cys1375Ter) | |
11 | g.17632225C= | CA1955235552 | OTOG | c.7107C= (p.Cys2369=) c.7071C= (p.Cys2357=) c.4125C= (p.Cys1375=) | |
11 | g.17632225C>G | CA379810919 | OTOG | c.7107C>G (p.Cys2369Trp) c.7071C>G (p.Cys2357Trp) c.4125C>G (p.Cys1375Trp) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17632225C>T | CA473310161 | OTOG | c.7107C>T (p.Cys2369=) c.7071C>T (p.Cys2357=) c.4125C>T (p.Cys1375=) | |
11 | g.17632226C>A | CA379810923 | OTOG | c.7108C>A (p.Pro2370Thr) c.7072C>A (p.Pro2358Thr) c.4126C>A (p.Pro1376Thr) | dbSNP COSMIC |
11 | g.17632226C= | CA1955235553 | OTOG | c.7108C= (p.Pro2370=) c.7072C= (p.Pro2358=) c.4126C= (p.Pro1376=) | |
11 | g.17632226C>G | CA379810925 | OTOG | c.7108C>G (p.Pro2370Ala) c.7072C>G (p.Pro2358Ala) c.4126C>G (p.Pro1376Ala) | ClinVar dbSNP |
11 | g.17632226C>T | CA379810927 | OTOG | c.7108C>T (p.Pro2370Ser) c.7072C>T (p.Pro2358Ser) c.4126C>T (p.Pro1376Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17632227G>A | CA379810929 | OTOG | c.7108+1G>A (n.7108+1G>A) c.7072+1G>A (n.7072+1G>A) c.4126+1G>A (n.4126+1G>A) | gnomAD v4 COSMIC |
11 | g.17632227G>C | CA379810931 | OTOG | c.7108+1G>C (n.7108+1G>C) c.7072+1G>C (n.7072+1G>C) c.4126+1G>C (n.4126+1G>C) | |
11 | g.17632227G>T | CA379810933 | OTOG | c.7108+1G>T (n.7108+1G>T) c.7072+1G>T (n.7072+1G>T) c.4126+1G>T (n.4126+1G>T) | gnomAD v4 |
11 | g.17632228T>A | CA379810936 | OTOG | c.7108+2T>A (n.7108+2T>A) c.7072+2T>A (n.7072+2T>A) c.4126+2T>A (n.4126+2T>A) | |
11 | g.17632228T>C | CA379810938 | OTOG | c.7108+2T>C (n.7108+2T>C) c.7072+2T>C (n.7072+2T>C) c.4126+2T>C (n.4126+2T>C) | |
11 | g.17632228T>G | CA379810941 | OTOG | c.7108+2T>G (n.7108+2T>G) c.7072+2T>G (n.7072+2T>G) c.4126+2T>G (n.4126+2T>G) | gnomAD v4 |
11 | g.17632228_17632229insATCATTAAAAAAT | CA2508883620 | OTOG | c.7108+2_7108+3insATCATTAAAAAAT (n.7108+2_7108+3insATCATTAAAAAAT) c.7072+2_7072+3insATCATTAAAAAAT (n.7072+2_7072+3insATCATTAAAAAAT) c.4126+2_4126+3insATCATTAAAAAAT (n.4126+2_4126+3insATCATTAAAAAAT) | |
11 | g.17632229G>C | CA2574771033 | OTOG | c.7108+3G>C (n.7108+3G>C) c.7072+3G>C (n.7072+3G>C) c.4126+3G>C (n.4126+3G>C) | gnomAD v4 |
11 | g.17632229G>T | CA2612688555 | OTOG | c.7108+3G>T (n.7108+3G>T) c.7072+3G>T (n.7072+3G>T) c.4126+3G>T (n.4126+3G>T) | gnomAD v4 |