Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.17634967_17635033del | CA2612689445 | OTOG | c.7621+19_7622-47del (n.7621+19_7622-47del) c.7585+19_7586-47del (n.7585+19_7586-47del) c.4322-643_4322-577del (n.4322-643_4322-577del) | gnomAD v4 |
11 | g.17635026del | CA2612690044 | OTOG | c.7622-54del (n.7622-54del) c.7586-54del (n.7586-54del) c.4322-584del (n.4322-584del) | gnomAD v4 |
11 | g.17635026A= | CA1955236895 | OTOG | c.7622-54A= (n.7622-54A=) c.7586-54A= (n.7586-54A=) c.4322-584A= (n.4322-584A=) | |
11 | g.17635026A>C | CA2723089522 | OTOG | c.7622-54A>C (n.7622-54A>C) c.7586-54A>C (n.7586-54A>C) c.4322-584A>C (n.4322-584A>C) | dbSNP |
11 | g.17635026A>G | CA674255250 | OTOG | c.7622-54A>G (n.7622-54A>G) c.7586-54A>G (n.7586-54A>G) c.4322-584A>G (n.4322-584A>G) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17635026A>T | CA2612690046 | OTOG | c.7622-54A>T (n.7622-54A>T) c.7586-54A>T (n.7586-54A>T) c.4322-584A>T (n.4322-584A>T) | gnomAD v4 |
11 | g.17635027G>A | CA2612690047 | OTOG | c.7622-53G>A (n.7622-53G>A) c.7586-53G>A (n.7586-53G>A) c.4322-583G>A (n.4322-583G>A) | gnomAD v4 |
11 | g.17635027G= | CA1955236896 | OTOG | c.7622-53G= (n.7622-53G=) c.7586-53G= (n.7586-53G=) c.4322-583G= (n.4322-583G=) | |
11 | g.17635027G>T | CA674255254 | OTOG | c.7622-53G>T (n.7622-53G>T) c.7586-53G>T (n.7586-53G>T) c.4322-583G>T (n.4322-583G>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17635028G>T | CA2612690050 | OTOG | c.7622-52G>T (n.7622-52G>T) c.7586-52G>T (n.7586-52G>T) c.4322-582G>T (n.4322-582G>T) | gnomAD v4 |
11 | g.17635029G>A | CA935545140 | OTOG | c.7622-51G>A (n.7622-51G>A) c.7586-51G>A (n.7586-51G>A) c.4322-581G>A (n.4322-581G>A) | dbSNP gnomAD v4 |
11 | g.17635029G= | CA1955236897 | OTOG | c.7622-51G= (n.7622-51G=) c.7586-51G= (n.7586-51G=) c.4322-581G= (n.4322-581G=) | |
11 | g.17635029G>T | CA218498906 | OTOG | c.7622-51G>T (n.7622-51G>T) c.7586-51G>T (n.7586-51G>T) c.4322-581G>T (n.4322-581G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17635030G>A | CA597675737 | OTOG | c.7622-50G>A (n.7622-50G>A) c.7586-50G>A (n.7586-50G>A) c.4322-580G>A (n.4322-580G>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17635030G= | CA1955236898 | OTOG | c.7622-50G= (n.7622-50G=) c.7586-50G= (n.7586-50G=) c.4322-580G= (n.4322-580G=) | |
11 | g.17635031T>A | CA2790598499 | OTOG | c.7622-49T>A (n.7622-49T>A) c.7586-49T>A (n.7586-49T>A) c.4322-579T>A (n.4322-579T>A) | |
11 | g.17635031T>G | CA218498912 | OTOG | c.7622-49T>G (n.7622-49T>G) c.7586-49T>G (n.7586-49T>G) c.4322-579T>G (n.4322-579T>G) | dbSNP |
11 | g.17635031T= | CA1955236899 | OTOG | c.7622-49T= (n.7622-49T=) c.7586-49T= (n.7586-49T=) c.4322-579T= (n.4322-579T=) | |
11 | g.17635032G>A | CA935545144 | OTOG | c.7622-48G>A (n.7622-48G>A) c.7586-48G>A (n.7586-48G>A) c.4322-578G>A (n.4322-578G>A) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17635032G= | CA1955236900 | OTOG | c.7622-48G= (n.7622-48G=) c.7586-48G= (n.7586-48G=) c.4322-578G= (n.4322-578G=) | |
11 | g.17635033G>A | CA218498937 | OTOG | c.7622-47G>A (n.7622-47G>A) c.7586-47G>A (n.7586-47G>A) c.4322-577G>A (n.4322-577G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17635033G= | CA1955236901 | OTOG | c.7622-47G= (n.7622-47G=) c.7586-47G= (n.7586-47G=) c.4322-577G= (n.4322-577G=) | |
11 | g.17635033G>T | CA2612690054 | OTOG | c.7622-47G>T (n.7622-47G>T) c.7586-47G>T (n.7586-47G>T) c.4322-577G>T (n.4322-577G>T) | gnomAD v4 |
11 | g.17635034C>A | CA2612690056 | OTOG | c.7622-46C>A (n.7622-46C>A) c.7586-46C>A (n.7586-46C>A) c.4322-576C>A (n.4322-576C>A) | gnomAD v4 |
11 | g.17635034C>T | CA597675740 | OTOG | c.7622-46C>T (n.7622-46C>T) c.7586-46C>T (n.7586-46C>T) c.4322-576C>T (n.4322-576C>T) | gnomAD v2 gnomAD v4 |
11 | g.17635034_17635038delinsCCAGG | CA1955236902 | OTOG | c.7622-46_7622-42delinsCCAGG (n.7622-46_7622-42delinsCCAGG) c.7586-46_7586-42delinsCCAGG (n.7586-46_7586-42delinsCCAGG) c.4322-576_4322-572delinsCCAGG (n.4322-576_4322-572delinsCCAGG) | |
11 | g.17635035C= | CA1955236903 | OTOG | c.7622-45C= (n.7622-45C=) c.7586-45C= (n.7586-45C=) c.4322-575C= (n.4322-575C=) | |
11 | g.17635035C>T | CA597675743 | OTOG | c.7622-45C>T (n.7622-45C>T) c.7586-45C>T (n.7586-45C>T) c.4322-575C>T (n.4322-575C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17635039_17635042del | CA597675742 | OTOG | c.7622-41_7622-38del (n.7622-41_7622-38del) c.7586-41_7586-38del (n.7586-41_7586-38del) c.4322-571_4322-568del (n.4322-571_4322-568del) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17635037G>A | CA5906148 | OTOG | c.7622-43G>A (n.7622-43G>A) c.7586-43G>A (n.7586-43G>A) c.4322-573G>A (n.4322-573G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17635037G= | CA1955236904 | OTOG | c.7622-43G= (n.7622-43G=) c.7586-43G= (n.7586-43G=) c.4322-573G= (n.4322-573G=) | |
11 | g.17635038G>A | CA2612690064 | OTOG | c.7622-42G>A (n.7622-42G>A) c.7586-42G>A (n.7586-42G>A) c.4322-572G>A (n.4322-572G>A) | gnomAD v4 |
11 | g.17635038G>C | CA2612690065 | OTOG | c.7622-42G>C (n.7622-42G>C) c.7586-42G>C (n.7586-42G>C) c.4322-572G>C (n.4322-572G>C) | gnomAD v4 |
11 | g.17635038G>T | CA2790598500 | OTOG | c.7622-42G>T (n.7622-42G>T) c.7586-42G>T (n.7586-42G>T) c.4322-572G>T (n.4322-572G>T) | |
11 | g.17635039C>A | CA674255263 | OTOG | c.7622-41C>A (n.7622-41C>A) c.7586-41C>A (n.7586-41C>A) c.4322-571C>A (n.4322-571C>A) | dbSNP gnomAD v4 |
11 | g.17635039C= | CA1955236905 | OTOG | c.7622-41C= (n.7622-41C=) c.7586-41C= (n.7586-41C=) c.4322-571C= (n.4322-571C=) | |
11 | g.17635039C>G | CA674255266 | OTOG | c.7622-41C>G (n.7622-41C>G) c.7586-41C>G (n.7586-41C>G) c.4322-571C>G (n.4322-571C>G) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17635039C>T | CA2612690068 | OTOG | c.7622-41C>T (n.7622-41C>T) c.7586-41C>T (n.7586-41C>T) c.4322-571C>T (n.4322-571C>T) | gnomAD v4 |
11 | g.17635040A>T | CA2612690071 | OTOG | c.7622-40A>T (n.7622-40A>T) c.7586-40A>T (n.7586-40A>T) c.4322-570A>T (n.4322-570A>T) | gnomAD v4 |
11 | g.17635041G>T | CA2790598501 | OTOG | c.7622-39G>T (n.7622-39G>T) c.7586-39G>T (n.7586-39G>T) c.4322-569G>T (n.4322-569G>T) | |
11 | g.17635042G>A | CA597675747 | OTOG | c.7622-38G>A (n.7622-38G>A) c.7586-38G>A (n.7586-38G>A) c.4322-568G>A (n.4322-568G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17635042G>C | CA5906149 | OTOG | c.7622-38G>C (n.7622-38G>C) c.7586-38G>C (n.7586-38G>C) c.4322-568G>C (n.4322-568G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17635042G= | CA1955236906 | OTOG | c.7622-38G= (n.7622-38G=) c.7586-38G= (n.7586-38G=) c.4322-568G= (n.4322-568G=) | |
11 | g.17635042G>T | CA218498963 | OTOG | c.7622-38G>T (n.7622-38G>T) c.7586-38G>T (n.7586-38G>T) c.4322-568G>T (n.4322-568G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17635043T>A | CA2612690076 | OTOG | c.7622-37T>A (n.7622-37T>A) c.7586-37T>A (n.7586-37T>A) c.4322-567T>A (n.4322-567T>A) | gnomAD v4 |
11 | g.17635045C>A | CA2612690078 | OTOG | c.7622-35C>A (n.7622-35C>A) c.7586-35C>A (n.7586-35C>A) c.4322-565C>A (n.4322-565C>A) | gnomAD v4 |
11 | g.17635045C>T | CA2612690079 | OTOG | c.7622-35C>T (n.7622-35C>T) c.7586-35C>T (n.7586-35C>T) c.4322-565C>T (n.4322-565C>T) | gnomAD v4 |
11 | g.17635046C>T | CA2612690080 | OTOG | c.7622-34C>T (n.7622-34C>T) c.7586-34C>T (n.7586-34C>T) c.4322-564C>T (n.4322-564C>T) | gnomAD v4 |
11 | g.17635047T>C | CA2612690081 | OTOG | c.7622-33T>C (n.7622-33T>C) c.7586-33T>C (n.7586-33T>C) c.4322-563T>C (n.4322-563T>C) | gnomAD v4 |
11 | g.17635049T>C | CA2612690082 | OTOG | c.7622-31T>C (n.7622-31T>C) c.7586-31T>C (n.7586-31T>C) c.4322-561T>C (n.4322-561T>C) | gnomAD v4 |
11 | g.17635050C>A | CA2574771149 | OTOG | c.7622-30C>A (n.7622-30C>A) c.7586-30C>A (n.7586-30C>A) c.4322-560C>A (n.4322-560C>A) | gnomAD v4 |
11 | g.17635050C= | CA1955236907 | OTOG | c.7622-30C= (n.7622-30C=) c.7586-30C= (n.7586-30C=) c.4322-560C= (n.4322-560C=) | |
11 | g.17635050C>G | CA1955236908 | OTOG | c.7622-30C>G (n.7622-30C>G) c.7586-30C>G (n.7586-30C>G) c.4322-560C>G (n.4322-560C>G) | dbSNP gnomAD v4 |
11 | g.17635050C>T | CA674255274 | OTOG | c.7622-30C>T (n.7622-30C>T) c.7586-30C>T (n.7586-30C>T) c.4322-560C>T (n.4322-560C>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17635051C= | CA1955236909 | OTOG | c.7622-29C= (n.7622-29C=) c.7586-29C= (n.7586-29C=) c.4322-559C= (n.4322-559C=) | |
11 | g.17635051C>G | CA2612690085 | OTOG | c.7622-29C>G (n.7622-29C>G) c.7586-29C>G (n.7586-29C>G) c.4322-559C>G (n.4322-559C>G) | gnomAD v4 |
11 | g.17635051C>T | CA5906150 | OTOG | c.7622-29C>T (n.7622-29C>T) c.7586-29C>T (n.7586-29C>T) c.4322-559C>T (n.4322-559C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17635052C>A | CA2612690086 | OTOG | c.7622-28C>A (n.7622-28C>A) c.7586-28C>A (n.7586-28C>A) c.4322-558C>A (n.4322-558C>A) | gnomAD v4 |
11 | g.17635052C= | CA1955236910 | OTOG | c.7622-28C= (n.7622-28C=) c.7586-28C= (n.7586-28C=) c.4322-558C= (n.4322-558C=) | |
11 | g.17635052C>T | CA597675846 | OTOG | c.7622-28C>T (n.7622-28C>T) c.7586-28C>T (n.7586-28C>T) c.4322-558C>T (n.4322-558C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17635053A>C | CA2612690088 | OTOG | c.7622-27A>C (n.7622-27A>C) c.7586-27A>C (n.7586-27A>C) c.4322-557A>C (n.4322-557A>C) | gnomAD v4 |
11 | g.17635053A>G | CA2574771150 | OTOG | c.7622-27A>G (n.7622-27A>G) c.7586-27A>G (n.7586-27A>G) c.4322-557A>G (n.4322-557A>G) | gnomAD v4 |
11 | g.17635054G>A | CA597675847 | OTOG | c.7622-26G>A (n.7622-26G>A) c.7586-26G>A (n.7586-26G>A) c.4322-556G>A (n.4322-556G>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17635054G= | CA1955236911 | OTOG | c.7622-26G= (n.7622-26G=) c.7586-26G= (n.7586-26G=) c.4322-556G= (n.4322-556G=) | |
11 | g.17635055C>A | CA2612690089 | OTOG | c.7622-25C>A (n.7622-25C>A) c.7586-25C>A (n.7586-25C>A) c.4322-555C>A (n.4322-555C>A) | gnomAD v4 |
11 | g.17635055C= | CA1955236912 | OTOG | c.7622-25C= (n.7622-25C=) c.7586-25C= (n.7586-25C=) c.4322-555C= (n.4322-555C=) | |
11 | g.17635055C>T | CA674255280 | OTOG | c.7622-25C>T (n.7622-25C>T) c.7586-25C>T (n.7586-25C>T) c.4322-555C>T (n.4322-555C>T) | dbSNP |
11 | g.17635056A= | CA1955236913 | OTOG | c.7622-24A= (n.7622-24A=) c.7586-24A= (n.7586-24A=) c.4322-554A= (n.4322-554A=) | |
11 | g.17635056A>C | CA597675848 | OTOG | c.7622-24A>C (n.7622-24A>C) c.7586-24A>C (n.7586-24A>C) c.4322-554A>C (n.4322-554A>C) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17635057C>T | CA2612690092 | OTOG | c.7622-23C>T (n.7622-23C>T) c.7586-23C>T (n.7586-23C>T) c.4322-553C>T (n.4322-553C>T) | gnomAD v4 |
11 | g.17635058C>A | CA2612690094 | OTOG | c.7622-22C>A (n.7622-22C>A) c.7586-22C>A (n.7586-22C>A) c.4322-552C>A (n.4322-552C>A) | gnomAD v4 |
11 | g.17635059T>C | CA2574771151 | OTOG | c.7622-21T>C (n.7622-21T>C) c.7586-21T>C (n.7586-21T>C) c.4322-551T>C (n.4322-551T>C) | gnomAD v4 |
11 | g.17635059T>G | CA2612690096 | OTOG | c.7622-21T>G (n.7622-21T>G) c.7586-21T>G (n.7586-21T>G) c.4322-551T>G (n.4322-551T>G) | gnomAD v4 |
11 | g.17635062del | CA2574771152 | OTOG | c.7622-18del (n.7622-18del) c.7586-18del (n.7586-18del) c.4322-548del (n.4322-548del) | |
11 | g.17635061A= | CA1955236914 | OTOG | c.7622-19A= (n.7622-19A=) c.7586-19A= (n.7586-19A=) c.4322-549A= (n.4322-549A=) | |
11 | g.17635061A>T | CA597675849 | OTOG | c.7622-19A>T (n.7622-19A>T) c.7586-19A>T (n.7586-19A>T) c.4322-549A>T (n.4322-549A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17635062A>G | CA2612690099 | OTOG | c.7622-18A>G (n.7622-18A>G) c.7586-18A>G (n.7586-18A>G) c.4322-548A>G (n.4322-548A>G) | gnomAD v4 |
11 | g.17635063T>C | CA2612690101 | OTOG | c.7622-17T>C (n.7622-17T>C) c.7586-17T>C (n.7586-17T>C) c.4322-547T>C (n.4322-547T>C) | gnomAD v4 |
11 | g.17635064T>A | CA2612690103 | OTOG | c.7622-16T>A (n.7622-16T>A) c.7586-16T>A (n.7586-16T>A) c.4322-546T>A (n.4322-546T>A) | gnomAD v4 |
11 | g.17635064T>C | CA2574771153 | OTOG | c.7622-16T>C (n.7622-16T>C) c.7586-16T>C (n.7586-16T>C) c.4322-546T>C (n.4322-546T>C) | |
11 | g.17635065C>A | CA2612690107 | OTOG | c.7622-15C>A (n.7622-15C>A) c.7586-15C>A (n.7586-15C>A) c.4322-545C>A (n.4322-545C>A) | gnomAD v4 |
11 | g.17635065C>T | CA2612690106 | OTOG | c.7622-15C>T (n.7622-15C>T) c.7586-15C>T (n.7586-15C>T) c.4322-545C>T (n.4322-545C>T) | gnomAD v4 |
11 | g.17635066A>G | CA2612690109 | OTOG | c.7622-14A>G (n.7622-14A>G) c.7586-14A>G (n.7586-14A>G) c.4322-544A>G (n.4322-544A>G) | gnomAD v4 |
11 | g.17635067G>A | CA5906151 | OTOG | c.7622-13G>A (n.7622-13G>A) c.7586-13G>A (n.7586-13G>A) c.4322-543G>A (n.4322-543G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17635067G>C | CA2574771154 | OTOG | c.7622-13G>C (n.7622-13G>C) c.7586-13G>C (n.7586-13G>C) c.4322-543G>C (n.4322-543G>C) | gnomAD v4 |
11 | g.17635067G= | CA1955236915 | OTOG | c.7622-13G= (n.7622-13G=) c.7586-13G= (n.7586-13G=) c.4322-543G= (n.4322-543G=) | |
11 | g.17635067G>T | CA2612690115 | OTOG | c.7622-13G>T (n.7622-13G>T) c.7586-13G>T (n.7586-13G>T) c.4322-543G>T (n.4322-543G>T) | gnomAD v4 |
11 | g.17635068C>A | CA2612690120 | OTOG | c.7622-12C>A (n.7622-12C>A) c.7586-12C>A (n.7586-12C>A) c.4322-542C>A (n.4322-542C>A) | gnomAD v4 |
11 | g.17635068C= | CA1955236916 | OTOG | c.7622-12C= (n.7622-12C=) c.7586-12C= (n.7586-12C=) c.4322-542C= (n.4322-542C=) | |
11 | g.17635068C>G | CA597675850 | OTOG | c.7622-12C>G (n.7622-12C>G) c.7586-12C>G (n.7586-12C>G) c.4322-542C>G (n.4322-542C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17635068C>T | CA2532402541 | OTOG | c.7622-12C>T (n.7622-12C>T) c.7586-12C>T (n.7586-12C>T) c.4322-542C>T (n.4322-542C>T) | |
11 | g.17635069C>A | CA2612690121 | OTOG | c.7622-11C>A (n.7622-11C>A) c.7586-11C>A (n.7586-11C>A) c.4322-541C>A (n.4322-541C>A) | gnomAD v4 |
11 | g.17635069C= | CA1955236917 | OTOG | c.7622-11C= (n.7622-11C=) c.7586-11C= (n.7586-11C=) c.4322-541C= (n.4322-541C=) | |
11 | g.17635069C>T | CA674255285 | OTOG | c.7622-11C>T (n.7622-11C>T) c.7586-11C>T (n.7586-11C>T) c.4322-541C>T (n.4322-541C>T) | dbSNP |
11 | g.17635070T>C | CA2612690122 | OTOG | c.7622-10T>C (n.7622-10T>C) c.7586-10T>C (n.7586-10T>C) c.4322-540T>C (n.4322-540T>C) | gnomAD v4 |
11 | g.17635073del | CA2574771155 | OTOG | c.7622-7del (n.7622-7del) c.7586-7del (n.7586-7del) c.4322-537del (n.4322-537del) | gnomAD v4 |
11 | g.17635073T>A | CA674255288 | OTOG | c.7622-7T>A (n.7622-7T>A) c.7586-7T>A (n.7586-7T>A) c.4322-537T>A (n.4322-537T>A) | dbSNP |
11 | g.17635073T= | CA1955236918 | OTOG | c.7622-7T= (n.7622-7T=) c.7586-7T= (n.7586-7T=) c.4322-537T= (n.4322-537T=) | |
11 | g.17635074C>A | CA2612690123 | OTOG | c.7622-6C>A (n.7622-6C>A) c.7586-6C>A (n.7586-6C>A) c.4322-536C>A (n.4322-536C>A) | gnomAD v4 |
11 | g.17635074C>T | CA2612690125 | OTOG | c.7622-6C>T (n.7622-6C>T) c.7586-6C>T (n.7586-6C>T) c.4322-536C>T (n.4322-536C>T) | gnomAD v4 |
11 | g.17635077del | CA2574771156 | OTOG | c.7622-3del (n.7622-3del) c.7586-3del (n.7586-3del) c.4322-533del (n.4322-533del) | |
11 | g.17635075C= | CA1955236919 | OTOG | c.7622-5C= (n.7622-5C=) c.7586-5C= (n.7586-5C=) c.4322-535C= (n.4322-535C=) | |
11 | g.17635075C>T | CA597675851 | OTOG | c.7622-5C>T (n.7622-5C>T) c.7586-5C>T (n.7586-5C>T) c.4322-535C>T (n.4322-535C>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17635076C= | CA1955236920 | OTOG | c.7622-4C= (n.7622-4C=) c.7586-4C= (n.7586-4C=) c.4322-534C= (n.4322-534C=) | |
11 | g.17635076C>T | CA5906152 | OTOG | c.7622-4C>T (n.7622-4C>T) c.7586-4C>T (n.7586-4C>T) c.4322-534C>T (n.4322-534C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17635077C>A | CA2612690129 | OTOG | c.7622-3C>A (n.7622-3C>A) c.7586-3C>A (n.7586-3C>A) c.4322-533C>A (n.4322-533C>A) | gnomAD v4 |
11 | g.17635077C= | CA1955236921 | OTOG | c.7622-3C= (n.7622-3C=) c.7586-3C= (n.7586-3C=) c.4322-533C= (n.4322-533C=) | |
11 | g.17635077C>T | CA597675852 | OTOG | c.7622-3C>T (n.7622-3C>T) c.7586-3C>T (n.7586-3C>T) c.4322-533C>T (n.4322-533C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17635078A>C | CA379812883 | OTOG | c.7622-2A>C (n.7622-2A>C) c.7586-2A>C (n.7586-2A>C) c.4322-532A>C (n.4322-532A>C) | |
11 | g.17635078A>G | CA379812884 | OTOG | c.7622-2A>G (n.7622-2A>G) c.7586-2A>G (n.7586-2A>G) c.4322-532A>G (n.4322-532A>G) | gnomAD v4 |
11 | g.17635078A>T | CA379812885 | OTOG | c.7622-2A>T (n.7622-2A>T) c.7586-2A>T (n.7586-2A>T) c.4322-532A>T (n.4322-532A>T) | |
11 | g.17635079G>A | CA379812886 | OTOG | c.7622-1G>A (n.7622-1G>A) c.7586-1G>A (n.7586-1G>A) c.4322-531G>A (n.4322-531G>A) | dbSNP gnomAD v2 |
11 | g.17635079G>C | CA379812887 | OTOG | c.7622-1G>C (n.7622-1G>C) c.7586-1G>C (n.7586-1G>C) c.4322-531G>C (n.4322-531G>C) | |
11 | g.17635079G= | CA1955236922 | OTOG | c.7622-1G= (n.7622-1G=) c.7586-1G= (n.7586-1G=) c.4322-531G= (n.4322-531G=) | |
11 | g.17635079G>T | CA379812888 | OTOG | c.7622-1G>T (n.7622-1G>T) c.7586-1G>T (n.7586-1G>T) c.4322-531G>T (n.4322-531G>T) | dbSNP gnomAD v4 |
11 | g.17635079_17635080delinsTT | CA2697548490 | OTOG | c.7622-1_7622delinsTT c.7586-1_7586delinsTT c.4322-531_4322-530delinsTT (n.4322-531_4322-530delinsTT) | ClinVar |
11 | g.17635080A= | CA1955236923 | OTOG | c.7622A= (p.Glu2541=) c.7586A= (p.Glu2529=) c.4322-530A= (n.4322-530A=) | |
11 | g.17635080A>C | CA379812889 | OTOG | c.7622A>C (p.Glu2541Ala) c.7586A>C (p.Glu2529Ala) c.4322-530A>C (n.4322-530A>C) | |
11 | g.17635080A>G | CA379812890 | OTOG | c.7622A>G (p.Glu2541Gly) c.7586A>G (p.Glu2529Gly) c.4322-530A>G (n.4322-530A>G) | dbSNP |
11 | g.17635080A>T | CA379812891 | OTOG | c.7622A>T (p.Glu2541Val) c.7586A>T (p.Glu2529Val) c.4322-530A>T (n.4322-530A>T) | |
11 | g.17635081G>A | CA473310890 | OTOG | c.7623G>A (p.Glu2541=) c.7587G>A (p.Glu2529=) c.4322-529G>A (n.4322-529G>A) | gnomAD v4 |
11 | g.17635081G>C | CA379812893 | OTOG | c.7623G>C (p.Glu2541Asp) c.7587G>C (p.Glu2529Asp) c.4322-529G>C (n.4322-529G>C) | |
11 | g.17635081G>T | CA379812892 | OTOG | c.7623G>T (p.Glu2541Asp) c.7587G>T (p.Glu2529Asp) c.4322-529G>T (n.4322-529G>T) | |
11 | g.17635082T>A | CA379812894 | OTOG | c.7624T>A (p.Cys2542Ser) c.7588T>A (p.Cys2530Ser) c.4322-528T>A (n.4322-528T>A) | |
11 | g.17635082T>C | CA379812895 | OTOG | c.7624T>C (p.Cys2542Arg) c.7588T>C (p.Cys2530Arg) c.4322-528T>C (n.4322-528T>C) | gnomAD v4 |
11 | g.17635082T>G | CA379812896 | OTOG | c.7624T>G (p.Cys2542Gly) c.7588T>G (p.Cys2530Gly) c.4322-528T>G (n.4322-528T>G) | |
11 | g.17635083G>A | CA379812897 | OTOG | c.7625G>A (p.Cys2542Tyr) c.7589G>A (p.Cys2530Tyr) c.4322-527G>A (n.4322-527G>A) | |
11 | g.17635083G>C | CA379812898 | OTOG | c.7625G>C (p.Cys2542Ser) c.7589G>C (p.Cys2530Ser) c.4322-527G>C (n.4322-527G>C) | |
11 | g.17635083G>T | CA379812899 | OTOG | c.7625G>T (p.Cys2542Phe) c.7589G>T (p.Cys2530Phe) c.4322-527G>T (n.4322-527G>T) | |
11 | g.17635084T>A | CA379812900 | OTOG | c.7626T>A (p.Cys2542Ter) c.7590T>A (p.Cys2530Ter) c.4322-526T>A (n.4322-526T>A) | |
11 | g.17635084T>C | CA473310891 | OTOG | c.7626T>C (p.Cys2542=) c.7590T>C (p.Cys2530=) c.4322-526T>C (n.4322-526T>C) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17635084T>G | CA379812901 | OTOG | c.7626T>G (p.Cys2542Trp) c.7590T>G (p.Cys2530Trp) c.4322-526T>G (n.4322-526T>G) | |
11 | g.17635084T= | CA1955236924 | OTOG | c.7626T= (p.Cys2542=) c.7590T= (p.Cys2530=) c.4322-526T= (n.4322-526T=) | |
11 | g.17635085G>A | CA379812902 | OTOG | c.7627G>A (p.Asp2543Asn) c.7591G>A (p.Asp2531Asn) c.4322-525G>A (n.4322-525G>A) | |
11 | g.17635085G>C | CA379812903 | OTOG | c.7627G>C (p.Asp2543His) c.7591G>C (p.Asp2531His) c.4322-525G>C (n.4322-525G>C) | |
11 | g.17635085G>T | CA379812904 | OTOG | c.7627G>T (p.Asp2543Tyr) c.7591G>T (p.Asp2531Tyr) c.4322-525G>T (n.4322-525G>T) | gnomAD v4 |
11 | g.17635086A= | CA1955236925 | OTOG | c.7628A= (p.Asp2543=) c.7592A= (p.Asp2531=) c.4322-524A= (n.4322-524A=) | |
11 | g.17635086A>C | CA218498987 | OTOG | c.7628A>C (p.Asp2543Ala) c.7592A>C (p.Asp2531Ala) c.4322-524A>C (n.4322-524A>C) | dbSNP |
11 | g.17635086A>G | CA379812905 | OTOG | c.7628A>G (p.Asp2543Gly) c.7592A>G (p.Asp2531Gly) c.4322-524A>G (n.4322-524A>G) | |
11 | g.17635086A>T | CA379812906 | OTOG | c.7628A>T (p.Asp2543Val) c.7592A>T (p.Asp2531Val) c.4322-524A>T (n.4322-524A>T) | |
11 | g.17635087C>A | CA379812907 | OTOG | c.7629C>A (p.Asp2543Glu) c.7593C>A (p.Asp2531Glu) c.4322-523C>A (n.4322-523C>A) | |
11 | g.17635087C>G | CA379812908 | OTOG | c.7629C>G (p.Asp2543Glu) c.7593C>G (p.Asp2531Glu) c.4322-523C>G (n.4322-523C>G) | |
11 | g.17635087C>T | CA473310892 | OTOG | c.7629C>T (p.Asp2543=) c.7593C>T (p.Asp2531=) c.4322-523C>T (n.4322-523C>T) | gnomAD v4 |
11 | g.17635088C>A | CA379812909 | OTOG | c.7630C>A (p.Pro2544Thr) c.7594C>A (p.Pro2532Thr) c.4322-522C>A (n.4322-522C>A) | |
11 | g.17635088C>G | CA379812910 | OTOG | c.7630C>G (p.Pro2544Ala) c.7594C>G (p.Pro2532Ala) c.4322-522C>G (n.4322-522C>G) | |
11 | g.17635088C>T | CA379812911 | OTOG | c.7630C>T (p.Pro2544Ser) c.7594C>T (p.Pro2532Ser) c.4322-522C>T (n.4322-522C>T) | |
11 | g.17635089C>A | CA379812912 | OTOG | c.7631C>A (p.Pro2544Gln) c.7595C>A (p.Pro2532Gln) c.4322-521C>A (n.4322-521C>A) | gnomAD v4 |
11 | g.17635089C= | CA1955236926 | OTOG | c.7631C= (p.Pro2544=) c.7595C= (p.Pro2532=) c.4322-521C= (n.4322-521C=) | |
11 | g.17635089C>G | CA379812913 | OTOG | c.7631C>G (p.Pro2544Arg) c.7595C>G (p.Pro2532Arg) c.4322-521C>G (n.4322-521C>G) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17635089C>T | CA379812914 | OTOG | c.7631C>T (p.Pro2544Leu) c.7595C>T (p.Pro2532Leu) c.4322-521C>T (n.4322-521C>T) | |
11 | g.17635090A>C | CA473310893 | OTOG | c.7632A>C (p.Pro2544=) c.7596A>C (p.Pro2532=) c.4322-520A>C (n.4322-520A>C) | |
11 | g.17635090A>G | CA473310894 | OTOG | c.7632A>G (p.Pro2544=) c.7596A>G (p.Pro2532=) c.4322-520A>G (n.4322-520A>G) | |
11 | g.17635090A>T | CA473310895 | OTOG | c.7632A>T (p.Pro2544=) c.7596A>T (p.Pro2532=) c.4322-520A>T (n.4322-520A>T) | |
11 | g.17635091G>A | CA379812915 | OTOG | c.7633G>A (p.Asp2545Asn) c.7597G>A (p.Asp2533Asn) c.4322-519G>A (n.4322-519G>A) | |
11 | g.17635091G>C | CA379812916 | OTOG | c.7633G>C (p.Asp2545His) c.7597G>C (p.Asp2533His) c.4322-519G>C (n.4322-519G>C) | |
11 | g.17635091G= | CA1955236927 | OTOG | c.7633G= (p.Asp2545=) c.7597G= (p.Asp2533=) c.4322-519G= (n.4322-519G=) | |
11 | g.17635091G>T | CA379812917 | OTOG | c.7633G>T (p.Asp2545Tyr) c.7597G>T (p.Asp2533Tyr) c.4322-519G>T (n.4322-519G>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17635092A>C | CA379812918 | OTOG | c.7634A>C (p.Asp2545Ala) c.7598A>C (p.Asp2533Ala) c.4322-518A>C (n.4322-518A>C) | |
11 | g.17635092A>G | CA379812919 | OTOG | c.7634A>G (p.Asp2545Gly) c.7598A>G (p.Asp2533Gly) c.4322-518A>G (n.4322-518A>G) | gnomAD v4 |
11 | g.17635092A>T | CA379812920 | OTOG | c.7634A>T (p.Asp2545Val) c.7598A>T (p.Asp2533Val) c.4322-518A>T (n.4322-518A>T) | |
11 | g.17635093T>A | CA379812921 | OTOG | c.7635T>A (p.Asp2545Glu) c.7599T>A (p.Asp2533Glu) c.4322-517T>A (n.4322-517T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17635093T>C | CA473310896 | OTOG | c.7635T>C (p.Asp2545=) c.7599T>C (p.Asp2533=) c.4322-517T>C (n.4322-517T>C) | |
11 | g.17635093T>G | CA379812922 | OTOG | c.7635T>G (p.Asp2545Glu) c.7599T>G (p.Asp2533Glu) c.4322-517T>G (n.4322-517T>G) | |
11 | g.17635093T= | CA1955236928 | OTOG | c.7635T= (p.Asp2545=) c.7599T= (p.Asp2533=) c.4322-517T= (n.4322-517T=) | |
11 | g.17635094C>A | CA379812923 | OTOG | c.7636C>A (p.Leu2546Ile) c.7600C>A (p.Leu2534Ile) c.4322-516C>A (n.4322-516C>A) | gnomAD v4 |
11 | g.17635094C>G | CA379812925 | OTOG | c.7636C>G (p.Leu2546Val) c.7600C>G (p.Leu2534Val) c.4322-516C>G (n.4322-516C>G) | |
11 | g.17635094C>T | CA379812924 | OTOG | c.7636C>T (p.Leu2546Phe) c.7600C>T (p.Leu2534Phe) c.4322-516C>T (n.4322-516C>T) | |
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) |