Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.17553327T>A | CA5905349 | OTOG | c.422-38T>A (n.422-38T>A) c.386-38T>A (n.386-38T>A) c.203-38T>A (n.203-38T>A) n.292-38T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553327T>C | CA1955197715 | OTOG | c.422-38T>C (n.422-38T>C) c.386-38T>C (n.386-38T>C) c.203-38T>C (n.203-38T>C) n.292-38T>C | dbSNP |
11 | g.17553327T= | CA1955197714 | OTOG | c.422-38T= (n.422-38T=) c.386-38T= (n.386-38T=) c.203-38T= (n.203-38T=) n.292-38T= | |
11 | g.17553328G>A | CA597904768 | OTOG | c.422-37G>A (n.422-37G>A) c.386-37G>A (n.386-37G>A) c.203-37G>A (n.203-37G>A) n.292-37G>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553328G= | CA1955197716 | OTOG | c.422-37G= (n.422-37G=) c.386-37G= (n.386-37G=) c.203-37G= (n.203-37G=) n.292-37G= | |
11 | g.17553328G>T | CA218489984 | OTOG | c.422-37G>T (n.422-37G>T) c.386-37G>T (n.386-37G>T) c.203-37G>T (n.203-37G>T) n.292-37G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553329del | CA2574770027 | OTOG | c.422-36del (n.422-36del) c.386-36del (n.386-36del) c.203-36del (n.203-36del) n.292-36del | gnomAD v4 |
11 | g.17553329T>C | CA2612679434 | OTOG | c.422-36T>C (n.422-36T>C) c.386-36T>C (n.386-36T>C) c.203-36T>C (n.203-36T>C) n.292-36T>C | gnomAD v4 |
11 | g.17553330A= | CA1955197717 | OTOG | c.422-35A= (n.422-35A=) c.386-35A= (n.386-35A=) c.203-35A= (n.203-35A=) n.292-35A= | |
11 | g.17553330A>G | CA218490000 | OTOG | c.422-35A>G (n.422-35A>G) c.386-35A>G (n.386-35A>G) c.203-35A>G (n.203-35A>G) n.292-35A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553331G>A | CA2612679436 | OTOG | c.422-34G>A (n.422-34G>A) c.386-34G>A (n.386-34G>A) c.203-34G>A (n.203-34G>A) n.292-34G>A | gnomAD v4 |
11 | g.17553332C>A | CA2612679438 | OTOG | c.422-33C>A (n.422-33C>A) c.386-33C>A (n.386-33C>A) c.203-33C>A (n.203-33C>A) n.292-33C>A | gnomAD v4 |
11 | g.17553332C= | CA1955197718 | OTOG | c.422-33C= (n.422-33C=) c.386-33C= (n.386-33C=) c.203-33C= (n.203-33C=) n.292-33C= | |
11 | g.17553332C>T | CA935543297 | OTOG | c.422-33C>T (n.422-33C>T) c.386-33C>T (n.386-33C>T) c.203-33C>T (n.203-33C>T) n.292-33C>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17553334A= | CA1955197719 | OTOG | c.422-31A= (n.422-31A=) c.386-31A= (n.386-31A=) c.203-31A= (n.203-31A=) n.292-31A= | |
11 | g.17553334A>G | CA674246642 | OTOG | c.422-31A>G (n.422-31A>G) c.386-31A>G (n.386-31A>G) c.203-31A>G (n.203-31A>G) n.292-31A>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17553335C>A | CA2790596447 | OTOG | c.422-30C>A (n.422-30C>A) c.386-30C>A (n.386-30C>A) c.203-30C>A (n.203-30C>A) n.292-30C>A | |
11 | g.17553336A>G | CA2612679440 | OTOG | c.422-29A>G (n.422-29A>G) c.386-29A>G (n.386-29A>G) c.203-29A>G (n.203-29A>G) n.292-29A>G | gnomAD v4 |
11 | g.17553337C>G | CA2612679441 | OTOG | c.422-28C>G (n.422-28C>G) c.386-28C>G (n.386-28C>G) c.203-28C>G (n.203-28C>G) n.292-28C>G | gnomAD v4 |
11 | g.17553337C>T | CA2612679442 | OTOG | c.422-28C>T (n.422-28C>T) c.386-28C>T (n.386-28C>T) c.203-28C>T (n.203-28C>T) n.292-28C>T | gnomAD v4 |
11 | g.17553338A= | CA1955197720 | OTOG | c.422-27A= (n.422-27A=) c.386-27A= (n.386-27A=) c.203-27A= (n.203-27A=) n.292-27A= | |
11 | g.17553338A>T | CA1955197721 | OTOG | c.422-27A>T (n.422-27A>T) c.386-27A>T (n.386-27A>T) c.203-27A>T (n.203-27A>T) n.292-27A>T | dbSNP |
11 | g.17553339G= | CA1955197722 | OTOG | c.422-26G= (n.422-26G=) c.386-26G= (n.386-26G=) c.203-26G= (n.203-26G=) n.292-26G= | |
11 | g.17553339G>T | CA597904769 | OTOG | c.422-26G>T (n.422-26G>T) c.386-26G>T (n.386-26G>T) c.203-26G>T (n.203-26G>T) n.292-26G>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553341G>A | CA218490024 | OTOG | c.422-24G>A (n.422-24G>A) c.386-24G>A (n.386-24G>A) c.203-24G>A (n.203-24G>A) n.292-24G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553341G= | CA1955197723 | OTOG | c.422-24G= (n.422-24G=) c.386-24G= (n.386-24G=) c.203-24G= (n.203-24G=) n.292-24G= | |
11 | g.17553343G>A | CA2612679444 | OTOG | c.422-22G>A (n.422-22G>A) c.386-22G>A (n.386-22G>A) c.203-22G>A (n.203-22G>A) n.292-22G>A | gnomAD v4 |
11 | g.17553343G>C | CA597904770 | OTOG | c.422-22G>C (n.422-22G>C) c.386-22G>C (n.386-22G>C) c.203-22G>C (n.203-22G>C) n.292-22G>C | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553343G= | CA1955197724 | OTOG | c.422-22G= (n.422-22G=) c.386-22G= (n.386-22G=) c.203-22G= (n.203-22G=) n.292-22G= | |
11 | g.17553344G>A | CA2612679445 | OTOG | c.422-21G>A (n.422-21G>A) c.386-21G>A (n.386-21G>A) c.203-21G>A (n.203-21G>A) n.292-21G>A | gnomAD v4 |
11 | g.17553344G= | CA1955197725 | OTOG | c.422-21G= (n.422-21G=) c.386-21G= (n.386-21G=) c.203-21G= (n.203-21G=) n.292-21G= | |
11 | g.17553344G>T | CA597904771 | OTOG | c.422-21G>T (n.422-21G>T) c.386-21G>T (n.386-21G>T) c.203-21G>T (n.203-21G>T) n.292-21G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553345T>C | CA5905350 | OTOG | c.422-20T>C (n.422-20T>C) c.386-20T>C (n.386-20T>C) c.203-20T>C (n.203-20T>C) n.292-20T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17553345T>G | CA1955197727 | OTOG | c.422-20T>G (n.422-20T>G) c.386-20T>G (n.386-20T>G) c.203-20T>G (n.203-20T>G) n.292-20T>G | dbSNP |
11 | g.17553345T= | CA1955197726 | OTOG | c.422-20T= (n.422-20T=) c.386-20T= (n.386-20T=) c.203-20T= (n.203-20T=) n.292-20T= | |
11 | g.17553345_17553347delinsTTC | CA1955197728 | OTOG | c.422-20_422-18delinsTTC (n.422-20_422-18delinsTTC) c.386-20_386-18delinsTTC (n.386-20_386-18delinsTTC) c.203-20_203-18delinsTTC (n.203-20_203-18delinsTTC) n.292-20_292-18delinsTTC | |
11 | g.17553349_17553350del | CA218490036 | OTOG | c.422-16_422-15del (n.422-16_422-15del) c.386-16_386-15del (n.386-16_386-15del) c.203-16_203-15del (n.203-16_203-15del) n.292-16_292-15del | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17553347C>T | CA2612679450 | OTOG | c.422-18C>T (n.422-18C>T) c.386-18C>T (n.386-18C>T) c.203-18C>T (n.203-18C>T) n.292-18C>T | gnomAD v4 |
11 | g.17553348T>C | CA2612679452 | OTOG | c.422-17T>C (n.422-17T>C) c.386-17T>C (n.386-17T>C) c.203-17T>C (n.203-17T>C) n.292-17T>C | gnomAD v4 |
11 | g.17553349C>T | CA2612679453 | OTOG | c.422-16C>T (n.422-16C>T) c.386-16C>T (n.386-16C>T) c.203-16C>T (n.203-16C>T) n.292-16C>T | gnomAD v4 |
11 | g.17553350T>C | CA2841250664 | OTOG | c.422-15T>C (n.422-15T>C) c.386-15T>C (n.386-15T>C) c.203-15T>C (n.203-15T>C) n.292-15T>C | |
11 | g.17553351T>C | CA1955197730 | OTOG | c.422-14T>C (n.422-14T>C) c.386-14T>C (n.386-14T>C) c.203-14T>C (n.203-14T>C) n.292-14T>C | dbSNP gnomAD v4 |
11 | g.17553351T= | CA1955197729 | OTOG | c.422-14T= (n.422-14T=) c.386-14T= (n.386-14T=) c.203-14T= (n.203-14T=) n.292-14T= | |
11 | g.17553353T>C | CA2612679455 | OTOG | c.422-12T>C (n.422-12T>C) c.386-12T>C (n.386-12T>C) c.203-12T>C (n.203-12T>C) n.292-12T>C | gnomAD v4 |
11 | g.17553354C>A | CA2612679456 | OTOG | c.422-11C>A (n.422-11C>A) c.386-11C>A (n.386-11C>A) c.203-11C>A (n.203-11C>A) n.292-11C>A | gnomAD v4 |
11 | g.17553355T>C | CA1955197732 | OTOG | c.422-10T>C (n.422-10T>C) c.386-10T>C (n.386-10T>C) c.203-10T>C (n.203-10T>C) n.292-10T>C | dbSNP |
11 | g.17553355T= | CA1955197731 | OTOG | c.422-10T= (n.422-10T=) c.386-10T= (n.386-10T=) c.203-10T= (n.203-10T=) n.292-10T= | |
11 | g.17553356C>A | CA2612679458 | OTOG | c.422-9C>A (n.422-9C>A) c.386-9C>A (n.386-9C>A) c.203-9C>A (n.203-9C>A) n.292-9C>A | gnomAD v4 |
11 | g.17553356C>T | CA2612679459 | OTOG | c.422-9C>T (n.422-9C>T) c.386-9C>T (n.386-9C>T) c.203-9C>T (n.203-9C>T) n.292-9C>T | dbSNP gnomAD v4 |
11 | g.17553357T>C | CA2612679461 | OTOG | c.422-8T>C (n.422-8T>C) c.386-8T>C (n.386-8T>C) c.203-8T>C (n.203-8T>C) n.292-8T>C | gnomAD v4 |
11 | g.17553359C>A | CA2612679463 | OTOG | c.422-6C>A (n.422-6C>A) c.386-6C>A (n.386-6C>A) c.203-6C>A (n.203-6C>A) n.292-6C>A | gnomAD v4 |
11 | g.17553359C>T | CA2574770028 | OTOG | c.422-6C>T (n.422-6C>T) c.386-6C>T (n.386-6C>T) c.203-6C>T (n.203-6C>T) n.292-6C>T | gnomAD v4 |
11 | g.17553360C>A | CA2612679466 | OTOG | c.422-5C>A (n.422-5C>A) c.386-5C>A (n.386-5C>A) c.203-5C>A (n.203-5C>A) n.292-5C>A | gnomAD v4 |
11 | g.17553360C>T | CA2612679467 | OTOG | c.422-5C>T (n.422-5C>T) c.386-5C>T (n.386-5C>T) c.203-5C>T (n.203-5C>T) n.292-5C>T | gnomAD v4 |
11 | g.17553361T>C | CA2612679468 | OTOG | c.422-4T>C (n.422-4T>C) c.386-4T>C (n.386-4T>C) c.203-4T>C (n.203-4T>C) n.292-4T>C | gnomAD v4 |
11 | g.17553362C>A | CA2612679469 | OTOG | c.422-3C>A (n.422-3C>A) c.386-3C>A (n.386-3C>A) c.203-3C>A (n.203-3C>A) n.292-3C>A | gnomAD v4 |
11 | g.17553362C>G | CA2790596448 | OTOG | c.422-3C>G (n.422-3C>G) c.386-3C>G (n.386-3C>G) c.203-3C>G (n.203-3C>G) n.292-3C>G | |
11 | g.17553363A= | CA1955197733 | OTOG | c.422-2A= (n.422-2A=) c.386-2A= (n.386-2A=) c.203-2A= (n.203-2A=) n.292-2A= | |
11 | g.17553363A>C | CA379811001 | OTOG | c.422-2A>C (n.422-2A>C) c.386-2A>C (n.386-2A>C) c.203-2A>C (n.203-2A>C) n.292-2A>C | dbSNP gnomAD v4 |
11 | g.17553363A>G | CA218490056 | OTOG | c.422-2A>G (n.422-2A>G) c.386-2A>G (n.386-2A>G) c.203-2A>G (n.203-2A>G) n.292-2A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553363A>T | CA379811000 | OTOG | c.422-2A>T (n.422-2A>T) c.386-2A>T (n.386-2A>T) c.203-2A>T (n.203-2A>T) n.292-2A>T | |
11 | g.17553364G>A | CA379811002 | OTOG | c.422-1G>A (n.422-1G>A) c.386-1G>A (n.386-1G>A) c.203-1G>A (n.203-1G>A) n.292-1G>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553364G>C | CA379811003 | OTOG | c.422-1G>C (n.422-1G>C) c.386-1G>C (n.386-1G>C) c.203-1G>C (n.203-1G>C) n.292-1G>C | |
11 | g.17553364G= | CA1955197734 | OTOG | c.422-1G= (n.422-1G=) c.386-1G= (n.386-1G=) c.203-1G= (n.203-1G=) n.292-1G= | |
11 | g.17553364G>T | CA379811004 | OTOG | c.422-1G>T (n.422-1G>T) c.386-1G>T (n.386-1G>T) c.203-1G>T (n.203-1G>T) n.292-1G>T | |
11 | g.17553365T>A | CA379811006 | OTOG | c.422T>A (p.Val141Glu) c.386T>A (p.Val129Glu) c.203T>A (p.Val68Glu) n.292T>A | |
11 | g.17553365T>C | CA218490071 | OTOG | c.422T>C (p.Val141Ala) c.386T>C (p.Val129Ala) c.203T>C (p.Val68Ala) n.292T>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17553365T>G | CA379811009 | OTOG | c.422T>G (p.Val141Gly) c.386T>G (p.Val129Gly) c.203T>G (p.Val68Gly) n.292T>G | dbSNP |
11 | g.17553365T= | CA1955197735 | OTOG | c.422T= (p.Val141=) c.386T= (p.Val129=) c.203T= (p.Val68=) n.292T= | |
11 | g.17553366G>A | CA473516728 | OTOG | c.423G>A (p.Val141=) c.387G>A (p.Val129=) c.204G>A (p.Val68=) n.293G>A | gnomAD v4 |
11 | g.17553366G>C | CA473516729 | OTOG | c.423G>C (p.Val141=) c.387G>C (p.Val129=) c.204G>C (p.Val68=) n.293G>C | |
11 | g.17553366G>T | CA473516730 | OTOG | c.423G>T (p.Val141=) c.387G>T (p.Val129=) c.204G>T (p.Val68=) n.293G>T | |
11 | g.17553367T>A | CA379811012 | OTOG | c.424T>A (p.Tyr142Asn) c.388T>A (p.Tyr130Asn) c.205T>A (p.Tyr69Asn) n.294T>A | |
11 | g.17553367T>C | CA379811014 | OTOG | c.424T>C (p.Tyr142His) c.388T>C (p.Tyr130His) c.205T>C (p.Tyr69His) n.294T>C | gnomAD v4 |
11 | g.17553367T>G | CA379811016 | OTOG | c.424T>G (p.Tyr142Asp) c.388T>G (p.Tyr130Asp) c.205T>G (p.Tyr69Asp) n.294T>G | |
11 | g.17553368A= | CA1955197736 | OTOG | c.425A= (p.Tyr142=) c.389A= (p.Tyr130=) c.206A= (p.Tyr69=) n.295A= | |
11 | g.17553368A>C | CA379811023 | OTOG | c.425A>C (p.Tyr142Ser) c.389A>C (p.Tyr130Ser) c.206A>C (p.Tyr69Ser) n.295A>C | |
11 | g.17553368A>G | CA5905351 | OTOG | c.425A>G (p.Tyr142Cys) c.389A>G (p.Tyr130Cys) c.206A>G (p.Tyr69Cys) n.295A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17553368A>T | CA379811019 | OTOG | c.425A>T (p.Tyr142Phe) c.389A>T (p.Tyr130Phe) c.206A>T (p.Tyr69Phe) n.295A>T | |
11 | g.17553369C>A | CA379811025 | OTOG | c.426C>A (p.Tyr142Ter) c.390C>A (p.Tyr130Ter) c.207C>A (p.Tyr69Ter) n.296C>A | |
11 | g.17553369C>G | CA379811027 | OTOG | c.426C>G (p.Tyr142Ter) c.390C>G (p.Tyr130Ter) c.207C>G (p.Tyr69Ter) n.296C>G | |
11 | g.17553369C>T | CA473516731 | OTOG | c.426C>T (p.Tyr142=) c.390C>T (p.Tyr130=) c.207C>T (p.Tyr69=) n.296C>T | |
11 | g.17553370A= | CA1955197737 | OTOG | c.427A= (p.Asn143=) c.391A= (p.Asn131=) c.208A= (p.Asn70=) n.297A= | |
11 | g.17553370A>C | CA379811030 | OTOG | c.427A>C (p.Asn143His) c.391A>C (p.Asn131His) c.208A>C (p.Asn70His) n.297A>C | |
11 | g.17553370A>G | CA379811033 | OTOG | c.427A>G (p.Asn143Asp) c.391A>G (p.Asn131Asp) c.208A>G (p.Asn70Asp) n.297A>G | dbSNP |
11 | g.17553370A>T | CA379811036 | OTOG | c.427A>T (p.Asn143Tyr) c.391A>T (p.Asn131Tyr) c.208A>T (p.Asn70Tyr) n.297A>T | |
11 | g.17553371A>C | CA379811039 | OTOG | c.428A>C (p.Asn143Thr) c.392A>C (p.Asn131Thr) c.209A>C (p.Asn70Thr) n.298A>C | |
11 | g.17553371A>G | CA379811041 | OTOG | c.428A>G (p.Asn143Ser) c.392A>G (p.Asn131Ser) c.209A>G (p.Asn70Ser) n.298A>G | gnomAD v4 |
11 | g.17553371A>T | CA379811044 | OTOG | c.428A>T (p.Asn143Ile) c.392A>T (p.Asn131Ile) c.209A>T (p.Asn70Ile) n.298A>T | |
11 | g.17553372T>A | CA379811047 | OTOG | c.429T>A (p.Asn143Lys) c.393T>A (p.Asn131Lys) c.210T>A (p.Asn70Lys) n.299T>A | |
11 | g.17553372T>C | CA473516732 | OTOG | c.429T>C (p.Asn143=) c.393T>C (p.Asn131=) c.210T>C (p.Asn70=) n.299T>C | |
11 | g.17553372T>G | CA379811049 | OTOG | c.429T>G (p.Asn143Lys) c.393T>G (p.Asn131Lys) c.210T>G (p.Asn70Lys) n.299T>G | |
11 | g.17553373G>A | CA379811052 | OTOG | c.430G>A (p.Ala144Thr) c.394G>A (p.Ala132Thr) c.211G>A (p.Ala71Thr) n.300G>A | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17553373G>C | CA379811055 | OTOG | c.430G>C (p.Ala144Pro) c.394G>C (p.Ala132Pro) c.211G>C (p.Ala71Pro) n.300G>C | |
11 | g.17553373G= | CA1955197738 | OTOG | c.430G= (p.Ala144=) c.394G= (p.Ala132=) c.211G= (p.Ala71=) n.300G= | |
11 | g.17553373G>T | CA379811057 | OTOG | c.430G>T (p.Ala144Ser) c.394G>T (p.Ala132Ser) c.211G>T (p.Ala71Ser) n.300G>T | |
11 | g.17553374C>A | CA5905352 | OTOG | c.431C>A (p.Ala144Asp) c.395C>A (p.Ala132Asp) c.212C>A (p.Ala71Asp) n.301C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17553374C= | CA1955197739 | OTOG | c.431C= (p.Ala144=) c.395C= (p.Ala132=) c.212C= (p.Ala71=) n.301C= | |
11 | g.17553374C>G | CA379811070 | OTOG | c.431C>G (p.Ala144Gly) c.395C>G (p.Ala132Gly) c.212C>G (p.Ala71Gly) n.301C>G | gnomAD v4 |
11 | g.17553374C>T | CA10576853 | OTOG | c.431C>T (p.Ala144Val) c.395C>T (p.Ala132Val) c.212C>T (p.Ala71Val) n.301C>T | ClinVar dbSNP gnomAD v4 |
11 | g.17553375C>A | CA473516733 | OTOG | c.432C>A (p.Ala144=) c.396C>A (p.Ala132=) c.213C>A (p.Ala71=) n.302C>A | dbSNP gnomAD v4 |
11 | g.17553375C= | CA1955197740 | OTOG | c.432C= (p.Ala144=) c.396C= (p.Ala132=) c.213C= (p.Ala71=) n.302C= | |
11 | g.17553375C>G | CA473516734 | OTOG | c.432C>G (p.Ala144=) c.396C>G (p.Ala132=) c.213C>G (p.Ala71=) n.302C>G | |
11 | g.17553375C>T | CA5905353 | OTOG | c.432C>T (p.Ala144=) c.396C>T (p.Ala132=) c.213C>T (p.Ala71=) n.302C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553376G>A | CA5905354 | OTOG | c.433G>A (p.Gly145Ser) c.397G>A (p.Gly133Ser) c.214G>A (p.Gly72Ser) n.303G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553376G>C | CA379811073 | OTOG | c.433G>C (p.Gly145Arg) c.397G>C (p.Gly133Arg) c.214G>C (p.Gly72Arg) n.303G>C | |
11 | g.17553376G= | CA1955197741 | OTOG | c.433G= (p.Gly145=) c.397G= (p.Gly133=) c.214G= (p.Gly72=) n.303G= | |
11 | g.17553376G>T | CA379811075 | OTOG | c.433G>T (p.Gly145Cys) c.397G>T (p.Gly133Cys) c.214G>T (p.Gly72Cys) n.303G>T | |
11 | g.17553377G>A | CA379811078 | OTOG | c.434G>A (p.Gly145Asp) c.398G>A (p.Gly133Asp) c.215G>A (p.Gly72Asp) n.304G>A | gnomAD v4 |
11 | g.17553377G>C | CA379811079 | OTOG | c.434G>C (p.Gly145Ala) c.398G>C (p.Gly133Ala) c.215G>C (p.Gly72Ala) n.304G>C | |
11 | g.17553377G>T | CA379811081 | OTOG | c.434G>T (p.Gly145Val) c.398G>T (p.Gly133Val) c.215G>T (p.Gly72Val) n.304G>T | |
11 | g.17553378C>A | CA473516737 | OTOG | c.435C>A (p.Gly145=) c.399C>A (p.Gly133=) c.216C>A (p.Gly72=) n.305C>A | gnomAD v4 |
11 | g.17553378C= | CA1955197742 | OTOG | c.435C= (p.Gly145=) c.399C= (p.Gly133=) c.216C= (p.Gly72=) n.305C= | |
11 | g.17553378C>G | CA473516736 | OTOG | c.435C>G (p.Gly145=) c.399C>G (p.Gly133=) c.216C>G (p.Gly72=) n.305C>G | |
11 | g.17553378C>T | CA473516735 | OTOG | c.435C>T (p.Gly145=) c.399C>T (p.Gly133=) c.216C>T (p.Gly72=) n.305C>T | dbSNP gnomAD v4 |
11 | g.17553379C>A | CA379811085 | OTOG | c.436C>A (p.Pro146Thr) c.400C>A (p.Pro134Thr) c.217C>A (p.Pro73Thr) n.306C>A | |
11 | g.17553379C>G | CA379811087 | OTOG | c.436C>G (p.Pro146Ala) c.400C>G (p.Pro134Ala) c.217C>G (p.Pro73Ala) n.306C>G | |
11 | g.17553379C>T | CA379811089 | OTOG | c.436C>T (p.Pro146Ser) c.400C>T (p.Pro134Ser) c.217C>T (p.Pro73Ser) n.306C>T | |
11 | g.17553380C>A | CA379811093 | OTOG | c.437C>A (p.Pro146His) c.401C>A (p.Pro134His) c.218C>A (p.Pro73His) n.307C>A | |
11 | g.17553380C= | CA1955197743 | OTOG | c.437C= (p.Pro146=) c.401C= (p.Pro134=) c.218C= (p.Pro73=) n.307C= | |
11 | g.17553380C>G | CA379811095 | OTOG | c.437C>G (p.Pro146Arg) c.401C>G (p.Pro134Arg) c.218C>G (p.Pro73Arg) n.307C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553380C>T | CA379811097 | OTOG | c.437C>T (p.Pro146Leu) c.401C>T (p.Pro134Leu) c.218C>T (p.Pro73Leu) n.307C>T | |
11 | g.17553381T>A | CA473516740 | OTOG | c.438T>A (p.Pro146=) c.402T>A (p.Pro134=) c.219T>A (p.Pro73=) n.308T>A | |
11 | g.17553381T>C | CA473516738 | OTOG | c.438T>C (p.Pro146=) c.402T>C (p.Pro134=) c.219T>C (p.Pro73=) n.308T>C | gnomAD v4 |
11 | g.17553381T>G | CA473516739 | OTOG | c.438T>G (p.Pro146=) c.402T>G (p.Pro134=) c.219T>G (p.Pro73=) n.308T>G | dbSNP gnomAD v2 |
11 | g.17553381T= | CA1955197744 | OTOG | c.438T= (p.Pro146=) c.402T= (p.Pro134=) c.219T= (p.Pro73=) n.308T= | |
11 | g.17553382G>A | CA379811104 | OTOG | c.439G>A (p.Glu147Lys) c.403G>A (p.Glu135Lys) c.220G>A (p.Glu74Lys) n.309G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553382G>C | CA379811102 | OTOG | c.439G>C (p.Glu147Gln) c.403G>C (p.Glu135Gln) c.220G>C (p.Glu74Gln) n.309G>C | |
11 | g.17553382G= | CA1955197745 | OTOG | c.439G= (p.Glu147=) c.403G= (p.Glu135=) c.220G= (p.Glu74=) n.309G= | |
11 | g.17553382G>T | CA379811100 | OTOG | c.439G>T (p.Glu147Ter) c.403G>T (p.Glu135Ter) c.220G>T (p.Glu74Ter) n.309G>T | |
11 | g.17553383A>C | CA379811109 | OTOG | c.440A>C (p.Glu147Ala) c.404A>C (p.Glu135Ala) c.221A>C (p.Glu74Ala) n.310A>C | |
11 | g.17553383A>G | CA379811111 | OTOG | c.440A>G (p.Glu147Gly) c.404A>G (p.Glu135Gly) c.221A>G (p.Glu74Gly) n.310A>G | gnomAD v4 |
11 | g.17553383A>T | CA379811114 | OTOG | c.440A>T (p.Glu147Val) c.404A>T (p.Glu135Val) c.221A>T (p.Glu74Val) n.310A>T | |
11 | g.17553384G>A | CA5905355 | OTOG | c.441G>A (p.Glu147=) c.405G>A (p.Glu135=) c.222G>A (p.Glu74=) n.311G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17553384G>C | CA379811122 | OTOG | c.441G>C (p.Glu147Asp) c.405G>C (p.Glu135Asp) c.222G>C (p.Glu74Asp) n.311G>C | |
11 | g.17553384G= | CA1955197746 | OTOG | c.441G= (p.Glu147=) c.405G= (p.Glu135=) c.222G= (p.Glu74=) n.311G= | |
11 | g.17553384G>T | CA379811125 | OTOG | c.441G>T (p.Glu147Asp) c.405G>T (p.Glu135Asp) c.222G>T (p.Glu74Asp) n.311G>T | |
11 | g.17553385A>C | CA473516741 | OTOG | c.442A>C (p.Arg148=) c.406A>C (p.Arg136=) c.223A>C (p.Arg75=) n.312A>C | |
11 | g.17553385A>G | CA379811128 | OTOG | c.442A>G (p.Arg148Gly) c.406A>G (p.Arg136Gly) c.223A>G (p.Arg75Gly) n.312A>G | gnomAD v4 |
11 | g.17553385A>T | CA379811132 | OTOG | c.442A>T (p.Arg148Trp) c.406A>T (p.Arg136Trp) c.223A>T (p.Arg75Trp) n.312A>T | |
11 | g.17553386G>A | CA379811135 | OTOG | c.443G>A (p.Arg148Lys) c.407G>A (p.Arg136Lys) c.224G>A (p.Arg75Lys) n.313G>A | gnomAD v4 |
11 | g.17553386G>C | CA379811138 | OTOG | c.443G>C (p.Arg148Thr) c.407G>C (p.Arg136Thr) c.224G>C (p.Arg75Thr) n.313G>C | |
11 | g.17553386G>T | CA379811141 | OTOG | c.443G>T (p.Arg148Met) c.407G>T (p.Arg136Met) c.224G>T (p.Arg75Met) n.313G>T | gnomAD v4 |
11 | g.17553388dup | CA2841250665 | OTOG | c.445dup (p.Asp149GlyfsTer16) c.409dup (p.Asp137GlyfsTer16) c.226dup (p.Asp76GlyfsTer16) n.315dup | |
11 | g.17553387G>A | CA473516742 | OTOG | c.444G>A (p.Arg148=) c.408G>A (p.Arg136=) c.225G>A (p.Arg75=) n.314G>A | gnomAD v4 |
11 | g.17553387G>C | CA379811150 | OTOG | c.444G>C (p.Arg148Ser) c.408G>C (p.Arg136Ser) c.225G>C (p.Arg75Ser) n.314G>C | |
11 | g.17553387G>T | CA379811154 | OTOG | c.444G>T (p.Arg148Ser) c.408G>T (p.Arg136Ser) c.225G>T (p.Arg75Ser) n.314G>T | COSMIC COSMIC |
11 | g.17553388G>A | CA218490106 | OTOG | c.445G>A (p.Asp149Asn) c.409G>A (p.Asp137Asn) c.226G>A (p.Asp76Asn) n.315G>A | dbSNP |
11 | g.17553388G>C | CA379811159 | OTOG | c.445G>C (p.Asp149His) c.409G>C (p.Asp137His) c.226G>C (p.Asp76His) n.315G>C | gnomAD v4 |
11 | g.17553388G= | CA1955197747 | OTOG | c.445G= (p.Asp149=) c.409G= (p.Asp137=) c.226G= (p.Asp76=) n.315G= | |
11 | g.17553388G>T | CA379811157 | OTOG | c.445G>T (p.Asp149Tyr) c.409G>T (p.Asp137Tyr) c.226G>T (p.Asp76Tyr) n.315G>T | gnomAD v4 |
11 | g.17553389A= | CA1955197748 | OTOG | c.446A= (p.Asp149=) c.410A= (p.Asp137=) c.227A= (p.Asp76=) n.316A= | |
11 | g.17553389A>C | CA379811164 | OTOG | c.446A>C (p.Asp149Ala) c.410A>C (p.Asp137Ala) c.227A>C (p.Asp76Ala) n.316A>C | gnomAD v4 |
11 | g.17553389A>G | CA218490108 | OTOG | c.446A>G (p.Asp149Gly) c.410A>G (p.Asp137Gly) c.227A>G (p.Asp76Gly) n.316A>G | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553389A>T | CA379811166 | OTOG | c.446A>T (p.Asp149Val) c.410A>T (p.Asp137Val) c.227A>T (p.Asp76Val) n.316A>T | |
11 | g.17553390C>A | CA379811171 | OTOG | c.447C>A (p.Asp149Glu) c.411C>A (p.Asp137Glu) c.228C>A (p.Asp76Glu) n.317C>A | gnomAD v4 |
11 | g.17553390C= | CA1955197749 | OTOG | c.447C= (p.Asp149=) c.411C= (p.Asp137=) c.228C= (p.Asp76=) n.317C= | |
11 | g.17553390C>G | CA379811176 | OTOG | c.447C>G (p.Asp149Glu) c.411C>G (p.Asp137Glu) c.228C>G (p.Asp76Glu) n.317C>G | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553390C>T | CA473516743 | OTOG | c.447C>T (p.Asp149=) c.411C>T (p.Asp137=) c.228C>T (p.Asp76=) n.317C>T | dbSNP gnomAD v4 |
11 | g.17553391A>C | CA379811180 | OTOG | c.448A>C (p.Ser150Arg) c.412A>C (p.Ser138Arg) c.229A>C (p.Ser77Arg) n.318A>C | |
11 | g.17553391A>G | CA379811188 | OTOG | c.448A>G (p.Ser150Gly) c.412A>G (p.Ser138Gly) c.229A>G (p.Ser77Gly) n.318A>G | gnomAD v4 |
11 | g.17553391A>T | CA379811183 | OTOG | c.448A>T (p.Ser150Cys) c.412A>T (p.Ser138Cys) c.229A>T (p.Ser77Cys) n.318A>T | gnomAD v4 |
11 | g.17553392G>A | CA379811191 | OTOG | c.449G>A (p.Ser150Asn) c.413G>A (p.Ser138Asn) c.230G>A (p.Ser77Asn) n.319G>A | dbSNP gnomAD v4 |
11 | g.17553392G>C | CA379811195 | OTOG | c.449G>C (p.Ser150Thr) c.413G>C (p.Ser138Thr) c.230G>C (p.Ser77Thr) n.319G>C | |
11 | g.17553392G= | CA1955197750 | OTOG | c.449G= (p.Ser150=) c.413G= (p.Ser138=) c.230G= (p.Ser77=) n.319G= | |
11 | g.17553392G>T | CA379811198 | OTOG | c.449G>T (p.Ser150Ile) c.413G>T (p.Ser138Ile) c.230G>T (p.Ser77Ile) n.319G>T | gnomAD v4 |
11 | g.17553393C>A | CA379811202 | OTOG | c.450C>A (p.Ser150Arg) c.414C>A (p.Ser138Arg) c.231C>A (p.Ser77Arg) n.320C>A | gnomAD v4 |
11 | g.17553393C>G | CA379811209 | OTOG | c.450C>G (p.Ser150Arg) c.414C>G (p.Ser138Arg) c.231C>G (p.Ser77Arg) n.320C>G | |
11 | g.17553393C>T | CA473516744 | OTOG | c.450C>T (p.Ser150=) c.414C>T (p.Ser138=) c.231C>T (p.Ser77=) n.320C>T | gnomAD v4 |
11 | g.17553394A= | CA1955197751 | OTOG | c.451A= (p.Ile151=) c.415A= (p.Ile139=) c.232A= (p.Ile78=) n.321A= | |
11 | g.17553394A>C | CA379811215 | OTOG | c.451A>C (p.Ile151Leu) c.415A>C (p.Ile139Leu) c.232A>C (p.Ile78Leu) n.321A>C | dbSNP gnomAD v4 |
11 | g.17553394A>G | CA379811218 | OTOG | c.451A>G (p.Ile151Val) c.415A>G (p.Ile139Val) c.232A>G (p.Ile78Val) n.321A>G | |
11 | g.17553394A>T | CA379811221 | OTOG | c.451A>T (p.Ile151Phe) c.415A>T (p.Ile139Phe) c.232A>T (p.Ile78Phe) n.321A>T | |
11 | g.17553395T>A | CA379811227 | OTOG | c.452T>A (p.Ile151Asn) c.416T>A (p.Ile139Asn) c.233T>A (p.Ile78Asn) n.322T>A | |
11 | g.17553395T>C | CA379811230 | OTOG | c.452T>C (p.Ile151Thr) c.416T>C (p.Ile139Thr) c.233T>C (p.Ile78Thr) n.322T>C | |
11 | g.17553395T>G | CA379811234 | OTOG | c.452T>G (p.Ile151Ser) c.416T>G (p.Ile139Ser) c.233T>G (p.Ile78Ser) n.322T>G | |
11 | g.17553396T>A | CA473516745 | OTOG | c.453T>A (p.Ile151=) c.417T>A (p.Ile139=) c.234T>A (p.Ile78=) n.323T>A | |
11 | g.17553396T>C | CA473516746 | OTOG | c.453T>C (p.Ile151=) c.417T>C (p.Ile139=) c.234T>C (p.Ile78=) n.323T>C | |
11 | g.17553396T>G | CA379811244 | OTOG | c.453T>G (p.Ile151Met) c.417T>G (p.Ile139Met) c.234T>G (p.Ile78Met) n.323T>G | |
11 | g.17553397T>A | CA379811255 | OTOG | c.454T>A (p.Cys152Ser) c.418T>A (p.Cys140Ser) c.235T>A (p.Cys79Ser) n.324T>A | |
11 | g.17553397T>C | CA379811252 | OTOG | c.454T>C (p.Cys152Arg) c.418T>C (p.Cys140Arg) c.235T>C (p.Cys79Arg) n.324T>C | |
11 | g.17553397T>G | CA379811249 | OTOG | c.454T>G (p.Cys152Gly) c.418T>G (p.Cys140Gly) c.235T>G (p.Cys79Gly) n.324T>G | |
11 | g.17553398G>A | CA379811259 | OTOG | c.455G>A (p.Cys152Tyr) c.419G>A (p.Cys140Tyr) c.236G>A (p.Cys79Tyr) n.325G>A | gnomAD v4 |
11 | g.17553398G>C | CA379811261 | OTOG | c.455G>C (p.Cys152Ser) c.419G>C (p.Cys140Ser) c.236G>C (p.Cys79Ser) n.325G>C | gnomAD v4 |
11 | g.17553398G>T | CA379811265 | OTOG | c.455G>T (p.Cys152Phe) c.419G>T (p.Cys140Phe) c.236G>T (p.Cys79Phe) n.325G>T | gnomAD v4 |
11 | g.17553399C>A | CA379811267 | OTOG | c.456C>A (p.Cys152Ter) c.420C>A (p.Cys140Ter) c.237C>A (p.Cys79Ter) n.326C>A | gnomAD v4 |
11 | g.17553399C= | CA1955197752 | OTOG | c.456C= (p.Cys152=) c.420C= (p.Cys140=) c.237C= (p.Cys79=) n.326C= | |
11 | g.17553399C>G | CA379811271 | OTOG | c.456C>G (p.Cys152Trp) c.420C>G (p.Cys140Trp) c.237C>G (p.Cys79Trp) n.326C>G | |
11 | g.17553399C>T | CA473516747 | OTOG | c.456C>T (p.Cys152=) c.420C>T (p.Cys140=) c.237C>T (p.Cys79=) n.326C>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553400C>A | CA473516748 | OTOG | c.457C>A (p.Arg153=) c.421C>A (p.Arg141=) c.238C>A (p.Arg80=) n.327C>A | gnomAD v4 |
11 | g.17553400C= | CA1955197753 | OTOG | c.457C= (p.Arg153=) c.421C= (p.Arg141=) c.238C= (p.Arg80=) n.327C= | |
11 | g.17553400C>G | CA379811274 | OTOG | c.457C>G (p.Arg153Gly) c.421C>G (p.Arg141Gly) c.238C>G (p.Arg80Gly) n.327C>G | gnomAD v4 |
11 | g.17553400C>T | CA5905356 | OTOG | c.457C>T (p.Arg153Trp) c.421C>T (p.Arg141Trp) c.238C>T (p.Arg80Trp) n.327C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553402_17553405dup | CA2612679533 | OTOG | c.459_462dup (p.Trp155GlyfsTer11) c.423_426dup (p.Trp143GlyfsTer11) c.240_243dup (p.Trp82GlyfsTer11) n.329_332dup | gnomAD v4 |
11 | g.17553401G>A | CA379811278 | OTOG | c.458G>A (p.Arg153Gln) c.422G>A (p.Arg141Gln) c.239G>A (p.Arg80Gln) n.328G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553401G>C | CA379811284 | OTOG | c.458G>C (p.Arg153Pro) c.422G>C (p.Arg141Pro) c.239G>C (p.Arg80Pro) n.328G>C | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553401G= | CA1955197754 | OTOG | c.458G= (p.Arg153=) c.422G= (p.Arg141=) c.239G= (p.Arg80=) n.328G= | |
11 | g.17553401G>T | CA379811289 | OTOG | c.458G>T (p.Arg153Leu) c.422G>T (p.Arg141Leu) c.239G>T (p.Arg80Leu) n.328G>T | gnomAD v4 |
11 | g.17553402G>A | CA473516751 | OTOG | c.459G>A (p.Arg153=) c.423G>A (p.Arg141=) c.240G>A (p.Arg80=) n.329G>A | gnomAD v4 |
11 | g.17553402G>C | CA473516750 | OTOG | c.459G>C (p.Arg153=) c.423G>C (p.Arg141=) c.240G>C (p.Arg80=) n.329G>C | |
11 | g.17553402G>T | CA473516749 | OTOG | c.459G>T (p.Arg153=) c.423G>T (p.Arg141=) c.240G>T (p.Arg80=) n.329G>T | |
11 | g.17553403G>A | CA379811293 | OTOG | c.460G>A (p.Ala154Thr) c.424G>A (p.Ala142Thr) c.241G>A (p.Ala81Thr) n.330G>A | |
11 | g.17553403G>C | CA379811295 | OTOG | c.460G>C (p.Ala154Pro) c.424G>C (p.Ala142Pro) c.241G>C (p.Ala81Pro) n.330G>C | |
11 | g.17553403G>T | CA379811297 | OTOG | c.460G>T (p.Ala154Ser) c.424G>T (p.Ala142Ser) c.241G>T (p.Ala81Ser) n.330G>T | |
11 | g.17553404C>A | CA379811304 | OTOG | c.461C>A (p.Ala154Glu) c.425C>A (p.Ala142Glu) c.242C>A (p.Ala81Glu) n.331C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553404C= | CA1955197755 | OTOG | c.461C= (p.Ala154=) c.425C= (p.Ala142=) c.242C= (p.Ala81=) n.331C= | |
11 | g.17553404C>G | CA379811307 | OTOG | c.461C>G (p.Ala154Gly) c.425C>G (p.Ala142Gly) c.242C>G (p.Ala81Gly) n.331C>G | gnomAD v4 |
11 | g.17553404C>T | CA218490112 | OTOG | c.461C>T (p.Ala154Val) c.425C>T (p.Ala142Val) c.242C>T (p.Ala81Val) n.331C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553405G>A | CA5905357 | OTOG | c.462G>A (p.Ala154=) c.426G>A (p.Ala142=) c.243G>A (p.Ala81=) n.332G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553405G>C | CA473516752 | OTOG | c.462G>C (p.Ala154=) c.426G>C (p.Ala142=) c.243G>C (p.Ala81=) n.332G>C | |
11 | g.17553405G= | CA1955197756 | OTOG | c.462G= (p.Ala154=) c.426G= (p.Ala142=) c.243G= (p.Ala81=) n.332G= | |
11 | g.17553405G>T | CA5905358 | OTOG | c.462G>T (p.Ala154=) c.426G>T (p.Ala142=) c.243G>T (p.Ala81=) n.332G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553406T>A | CA379811313 | OTOG | c.463T>A (p.Trp155Arg) c.427T>A (p.Trp143Arg) c.244T>A (p.Trp82Arg) n.333T>A | |
11 | g.17553406T>C | CA379811315 | OTOG | c.463T>C (p.Trp155Arg) c.427T>C (p.Trp143Arg) c.244T>C (p.Trp82Arg) n.333T>C | |
11 | g.17553406T>G | CA379811318 | OTOG | c.463T>G (p.Trp155Gly) c.427T>G (p.Trp143Gly) c.244T>G (p.Trp82Gly) n.333T>G | |
11 | g.17553406_17553407delinsTG | CA1955197757 | OTOG | c.463_464delinsTG (p.Trp155=) c.427_428delinsTG (p.Trp143=) c.244_245delinsTG (p.Trp82=) n.333_334delinsTG | |
11 | g.17553407G>A | CA379811322 | OTOG | c.464G>A (p.Trp155Ter) c.428G>A (p.Trp143Ter) c.245G>A (p.Trp82Ter) n.334G>A | gnomAD v4 |
11 | g.17553407G>C | CA379811325 | OTOG | c.464G>C (p.Trp155Ser) c.428G>C (p.Trp143Ser) c.245G>C (p.Trp82Ser) n.334G>C | |
11 | g.17553407G>T | CA379811326 | OTOG | c.464G>T (p.Trp155Leu) c.428G>T (p.Trp143Leu) c.245G>T (p.Trp82Leu) n.334G>T | gnomAD v4 |
11 | g.17553411dup | CA2612679566 | OTOG | c.468dup (p.Gln157AlafsTer8) c.432dup (p.Gln145AlafsTer8) c.249dup (p.Gln84AlafsTer8) n.338dup | gnomAD v4 |
11 | g.17553411del | CA597904650 | OTOG | c.468del (p.Gln157SerfsTer?) c.432del (p.Gln145SerfsTer?) c.249del (p.Gln84SerfsTer?) n.338del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553408G>A | CA379811327 | OTOG | c.465G>A (p.Trp155Ter) c.429G>A (p.Trp143Ter) c.246G>A (p.Trp82Ter) n.335G>A | |
11 | g.17553408G>C | CA379811328 | OTOG | c.465G>C (p.Trp155Cys) c.429G>C (p.Trp143Cys) c.246G>C (p.Trp82Cys) n.335G>C | |
11 | g.17553408G>T | CA379811330 | OTOG | c.465G>T (p.Trp155Cys) c.429G>T (p.Trp143Cys) c.246G>T (p.Trp82Cys) n.335G>T | gnomAD v4 |
11 | g.17553409G>A | CA379811339 | OTOG | c.466G>A (p.Gly156Arg) c.430G>A (p.Gly144Arg) c.247G>A (p.Gly83Arg) n.336G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.17553409G>C | CA379811333 | OTOG | c.466G>C (p.Gly156Arg) c.430G>C (p.Gly144Arg) c.247G>C (p.Gly83Arg) n.336G>C | |
11 | g.17553409G= | CA1955197758 | OTOG | c.466G= (p.Gly156=) c.430G= (p.Gly144=) c.247G= (p.Gly83=) n.336G= | |
11 | g.17553409G>T | CA379811336 | OTOG | c.466G>T (p.Gly156Trp) c.430G>T (p.Gly144Trp) c.247G>T (p.Gly83Trp) n.336G>T | |
11 | g.17553410G>A | CA379811343 | OTOG | c.467G>A (p.Gly156Glu) c.431G>A (p.Gly144Glu) c.248G>A (p.Gly83Glu) n.337G>A | |
11 | g.17553410G>C | CA379811344 | OTOG | c.467G>C (p.Gly156Ala) c.431G>C (p.Gly144Ala) c.248G>C (p.Gly83Ala) n.337G>C | |
11 | g.17553410G>T | CA379811347 | OTOG | c.467G>T (p.Gly156Val) c.431G>T (p.Gly144Val) c.248G>T (p.Gly83Val) n.337G>T | gnomAD v4 |
11 | g.17553411G>A | CA473516753 | OTOG | c.468G>A (p.Gly156=) c.432G>A (p.Gly144=) c.249G>A (p.Gly83=) n.338G>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553411G>C | CA473516754 | OTOG | c.468G>C (p.Gly156=) c.432G>C (p.Gly144=) c.249G>C (p.Gly83=) n.338G>C | |
11 | g.17553411G= | CA1955197759 | OTOG | c.468G= (p.Gly156=) c.432G= (p.Gly144=) c.249G= (p.Gly83=) n.338G= | |
11 | g.17553411G>T | CA473516755 | OTOG | c.468G>T (p.Gly156=) c.432G>T (p.Gly144=) c.249G>T (p.Gly83=) n.338G>T | gnomAD v4 |
11 | g.17553412C>A | CA379811350 | OTOG | c.469C>A (p.Gln157Lys) c.433C>A (p.Gln145Lys) c.250C>A (p.Gln84Lys) n.339C>A | dbSNP gnomAD v4 |
11 | g.17553412C= | CA1955197760 | OTOG | c.469C= (p.Gln157=) c.433C= (p.Gln145=) c.250C= (p.Gln84=) n.339C= | |
11 | g.17553412C>G | CA379811352 | OTOG | c.469C>G (p.Gln157Glu) c.433C>G (p.Gln145Glu) c.250C>G (p.Gln84Glu) n.339C>G | |
11 | g.17553412C>T | CA379811354 | OTOG | c.469C>T (p.Gln157Ter) c.433C>T (p.Gln145Ter) c.250C>T (p.Gln84Ter) n.339C>T | gnomAD v4 |
11 | g.17553413A>C | CA379811357 | OTOG | c.470A>C (p.Gln157Pro) c.434A>C (p.Gln145Pro) c.251A>C (p.Gln84Pro) n.340A>C | |
11 | g.17553413A>G | CA379811360 | OTOG | c.470A>G (p.Gln157Arg) c.434A>G (p.Gln145Arg) c.251A>G (p.Gln84Arg) n.340A>G | gnomAD v4 |
11 | g.17553413A>T | CA379811363 | OTOG | c.470A>T (p.Gln157Leu) c.434A>T (p.Gln145Leu) c.251A>T (p.Gln84Leu) n.340A>T | |
11 | g.17553414G>A | CA473516756 | OTOG | c.471G>A (p.Gln157=) c.435G>A (p.Gln145=) c.252G>A (p.Gln84=) n.341G>A | gnomAD v4 |
11 | g.17553414G>C | CA379811365 | OTOG | c.471G>C (p.Gln157His) c.435G>C (p.Gln145His) c.252G>C (p.Gln84His) n.341G>C | |
11 | g.17553414G>T | CA379811368 | OTOG | c.471G>T (p.Gln157His) c.435G>T (p.Gln145His) c.252G>T (p.Gln84His) n.341G>T | |
11 | g.17553415C>A | CA379811374 | OTOG | c.472C>A (p.His158Asn) c.436C>A (p.His146Asn) c.253C>A (p.His85Asn) n.342C>A | gnomAD v4 |
11 | g.17553415C>G | CA379811378 | OTOG | c.472C>G (p.His158Asp) c.436C>G (p.His146Asp) c.253C>G (p.His85Asp) n.342C>G | |
11 | g.17553415C>T | CA379811370 | OTOG | c.472C>T (p.His158Tyr) c.436C>T (p.His146Tyr) c.253C>T (p.His85Tyr) n.342C>T | gnomAD v4 |
11 | g.17553416A>C | CA379811389 | OTOG | c.473A>C (p.His158Pro) c.437A>C (p.His146Pro) c.254A>C (p.His85Pro) n.343A>C | |
11 | g.17553416A>G | CA379811383 | OTOG | c.473A>G (p.His158Arg) c.437A>G (p.His146Arg) c.254A>G (p.His85Arg) n.343A>G | gnomAD v4 |
11 | g.17553416A>T | CA379811386 | OTOG | c.473A>T (p.His158Leu) c.437A>T (p.His146Leu) c.254A>T (p.His85Leu) n.343A>T | |
11 | g.17553417C>A | CA379811392 | OTOG | c.474C>A (p.His158Gln) c.438C>A (p.His146Gln) c.255C>A (p.His85Gln) n.344C>A | gnomAD v4 COSMIC |
11 | g.17553417C>G | CA379811395 | OTOG | c.474C>G (p.His158Gln) c.438C>G (p.His146Gln) c.255C>G (p.His85Gln) n.344C>G | |
11 | g.17553417C>T | CA473516757 | OTOG | c.474C>T (p.His158=) c.438C>T (p.His146=) c.255C>T (p.His85=) n.344C>T | gnomAD v4 |
11 | g.17553418del | CA2612679581 | OTOG | c.475del (p.His159ThrfsTer?) c.439del (p.His147ThrfsTer?) c.256del (p.His86ThrfsTer?) n.345del | gnomAD v4 |
11 | g.17553418C>A | CA379811401 | OTOG | c.475C>A (p.His159Asn) c.439C>A (p.His147Asn) c.256C>A (p.His86Asn) n.345C>A | gnomAD v4 |
11 | g.17553418C= | CA1955197761 | OTOG | c.475C= (p.His159=) c.439C= (p.His147=) c.256C= (p.His86=) n.345C= | |
11 | g.17553418C>G | CA379811404 | OTOG | c.475C>G (p.His159Asp) c.439C>G (p.His147Asp) c.256C>G (p.His86Asp) n.345C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553418C>T | CA379811418 | OTOG | c.475C>T (p.His159Tyr) c.439C>T (p.His147Tyr) c.256C>T (p.His86Tyr) n.345C>T | gnomAD v4 |
11 | g.17553419A= | CA1955197762 | OTOG | c.476A= (p.His159=) c.440A= (p.His147=) c.257A= (p.His86=) n.346A= | |
11 | g.17553419A>C | CA379811421 | OTOG | c.476A>C (p.His159Pro) c.440A>C (p.His147Pro) c.257A>C (p.His86Pro) n.346A>C | gnomAD v4 |
11 | g.17553419A>G | CA379811423 | OTOG | c.476A>G (p.His159Arg) c.440A>G (p.His147Arg) c.257A>G (p.His86Arg) n.346A>G | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553419A>T | CA379811426 | OTOG | c.476A>T (p.His159Leu) c.440A>T (p.His147Leu) c.257A>T (p.His86Leu) n.346A>T | |
11 | g.17553420C>A | CA379811429 | OTOG | c.477C>A (p.His159Gln) c.441C>A (p.His147Gln) c.258C>A (p.His86Gln) n.347C>A | gnomAD v4 |
11 | g.17553420C= | CA1955197763 | OTOG | c.477C= (p.His159=) c.441C= (p.His147=) c.258C= (p.His86=) n.347C= | |
11 | g.17553420C>G | CA379811430 | OTOG | c.477C>G (p.His159Gln) c.441C>G (p.His147Gln) c.258C>G (p.His86Gln) n.347C>G | |
11 | g.17553420C>T | CA5905359 | OTOG | c.477C>T (p.His159=) c.441C>T (p.His147=) c.258C>T (p.His86=) n.347C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553421G>A | CA379811432 | OTOG | c.478G>A (p.Val160Met) c.442G>A (p.Val148Met) c.259G>A (p.Val87Met) n.348G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553421G>C | CA379811434 | OTOG | c.478G>C (p.Val160Leu) c.442G>C (p.Val148Leu) c.259G>C (p.Val87Leu) n.348G>C | gnomAD v4 |
11 | g.17553421G= | CA1955197764 | OTOG | c.478G= (p.Val160=) c.442G= (p.Val148=) c.259G= (p.Val87=) n.348G= | |
11 | g.17553421G>T | CA5905360 | OTOG | c.478G>T (p.Val160Leu) c.442G>T (p.Val148Leu) c.259G>T (p.Val87Leu) n.348G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553422T>A | CA379811438 | OTOG | c.479T>A (p.Val160Glu) c.443T>A (p.Val148Glu) c.260T>A (p.Val87Glu) n.349T>A | |
11 | g.17553422T>C | CA379811440 | OTOG | c.479T>C (p.Val160Ala) c.443T>C (p.Val148Ala) c.260T>C (p.Val87Ala) n.349T>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17553422T>G | CA379811442 | OTOG | c.479T>G (p.Val160Gly) c.443T>G (p.Val148Gly) c.260T>G (p.Val87Gly) n.349T>G | |
11 | g.17553422T= | CA1955197765 | OTOG | c.479T= (p.Val160=) c.443T= (p.Val148=) c.260T= (p.Val87=) n.349T= | |
11 | g.17553423G>A | CA473516760 | OTOG | c.480G>A (p.Val160=) c.444G>A (p.Val148=) c.261G>A (p.Val87=) n.350G>A | |
11 | g.17553423G>C | CA473516759 | OTOG | c.480G>C (p.Val160=) c.444G>C (p.Val148=) c.261G>C (p.Val87=) n.350G>C | |
11 | g.17553423G>T | CA473516758 | OTOG | c.480G>T (p.Val160=) c.444G>T (p.Val148=) c.261G>T (p.Val87=) n.350G>T | gnomAD v4 |
11 | g.17553424G>A | CA379811445 | OTOG | c.481G>A (p.Glu161Lys) c.445G>A (p.Glu149Lys) c.262G>A (p.Glu88Lys) n.351G>A | gnomAD v4 |
11 | g.17553424G>C | CA379811447 | OTOG | c.481G>C (p.Glu161Gln) c.445G>C (p.Glu149Gln) c.262G>C (p.Glu88Gln) n.351G>C | |
11 | g.17553424G>T | CA379811449 | OTOG | c.481G>T (p.Glu161Ter) c.445G>T (p.Glu149Ter) c.262G>T (p.Glu88Ter) n.351G>T | gnomAD v4 |
11 | g.17553425A>C | CA379811452 | OTOG | c.482A>C (p.Glu161Ala) c.446A>C (p.Glu149Ala) c.263A>C (p.Glu88Ala) n.352A>C | |
11 | g.17553425A>G | CA379811454 | OTOG | c.482A>G (p.Glu161Gly) c.446A>G (p.Glu149Gly) c.263A>G (p.Glu88Gly) n.352A>G | gnomAD v4 |
11 | g.17553425A>T | CA379811456 | OTOG | c.482A>T (p.Glu161Val) c.446A>T (p.Glu149Val) c.263A>T (p.Glu88Val) n.352A>T | |
11 | g.17553426G>A | CA473516761 | OTOG | c.483G>A (p.Glu161=) c.447G>A (p.Glu149=) c.264G>A (p.Glu88=) n.353G>A | |
11 | g.17553426G>C | CA379811458 | OTOG | c.483G>C (p.Glu161Asp) c.447G>C (p.Glu149Asp) c.264G>C (p.Glu88Asp) n.353G>C | |
11 | g.17553426G>T | CA379811464 | OTOG | c.483G>T (p.Glu161Asp) c.447G>T (p.Glu149Asp) c.264G>T (p.Glu88Asp) n.353G>T | gnomAD v4 |
11 | g.17553427A= | CA1955197766 | OTOG | c.484A= (p.Thr162=) c.448A= (p.Thr150=) c.265A= (p.Thr89=) n.354A= | |
11 | g.17553427A>C | CA379811470 | OTOG | c.484A>C (p.Thr162Pro) c.448A>C (p.Thr150Pro) c.265A>C (p.Thr89Pro) n.354A>C | |
11 | g.17553427A>G | CA379811472 | OTOG | c.484A>G (p.Thr162Ala) c.448A>G (p.Thr150Ala) c.265A>G (p.Thr89Ala) n.354A>G | dbSNP |
11 | g.17553427A>T | CA379811468 | OTOG | c.484A>T (p.Thr162Ser) c.448A>T (p.Thr150Ser) c.265A>T (p.Thr89Ser) n.354A>T | gnomAD v4 |
11 | g.17553427dup | CA2838982836 | OTOG | c.484dup (p.Thr162AsnfsTer3) c.448dup (p.Thr150AsnfsTer3) c.265dup (p.Thr89AsnfsTer3) n.354dup |