OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.17645848G>A | CA5906326 | OTOG | c.8682G>A (p.Leu2894=) c.8646G>A (p.Leu2882=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17645848G>C | CA473301205 | OTOG | c.8682G>C (p.Leu2894=) c.8646G>C (p.Leu2882=) | |
| 11 | g.17645848G= | CA1955242341 | OTOG | c.8682G= (p.Leu2894=) c.8646G= (p.Leu2882=) | |
| 11 | g.17645848G>T | CA473301206 | OTOG | c.8682G>T (p.Leu2894=) c.8646G>T (p.Leu2882=) | gnomAD v4 |
| 11 | g.17645849C>A | CA379792556 | OTOG | c.8683C>A (p.Gln2895Lys) c.8647C>A (p.Gln2883Lys) | |
| 11 | g.17645849C>G | CA379792559 | OTOG | c.8683C>G (p.Gln2895Glu) c.8647C>G (p.Gln2883Glu) | |
| 11 | g.17645849C>T | CA379792561 | OTOG | c.8683C>T (p.Gln2895Ter) c.8647C>T (p.Gln2883Ter) | gnomAD v4 |
| 11 | g.17645850A>C | CA379792570 | OTOG | c.8684A>C (p.Gln2895Pro) c.8648A>C (p.Gln2883Pro) | |
| 11 | g.17645850A>G | CA379792574 | OTOG | c.8684A>G (p.Gln2895Arg) c.8648A>G (p.Gln2883Arg) | |
| 11 | g.17645850A>T | CA379792565 | OTOG | c.8684A>T (p.Gln2895Leu) c.8648A>T (p.Gln2883Leu) | |
| 11 | g.17645851G>A | CA473301207 | OTOG | c.8685G>A (p.Gln2895=) c.8649G>A (p.Gln2883=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17645851G>C | CA379792577 | OTOG | c.8685G>C (p.Gln2895His) c.8649G>C (p.Gln2883His) | |
| 11 | g.17645851G= | CA1955242342 | OTOG | c.8685G= (p.Gln2895=) c.8649G= (p.Gln2883=) | |
| 11 | g.17645851G>T | CA379792589 | OTOG | c.8685G>T (p.Gln2895His) c.8649G>T (p.Gln2883His) | |
| 11 | g.17645852C>A | CA473301208 | OTOG | c.8686C>A (p.Arg2896=) c.8650C>A (p.Arg2884=) | dbSNP |
| 11 | g.17645852C= | CA1955242343 | OTOG | c.8686C= (p.Arg2896=) c.8650C= (p.Arg2884=) | |
| 11 | g.17645852C>G | CA379792593 | OTOG | c.8686C>G (p.Arg2896Gly) c.8650C>G (p.Arg2884Gly) | |
| 11 | g.17645852C>T | CA5906327 | OTOG | c.8686C>T (p.Arg2896Trp) c.8650C>T (p.Arg2884Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17645853G>A | CA5906328 | OTOG | c.8687G>A (p.Arg2896Gln) c.8651G>A (p.Arg2884Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17645853G>C | CA379792609 | OTOG | c.8687G>C (p.Arg2896Pro) c.8651G>C (p.Arg2884Pro) | |
| 11 | g.17645853G= | CA1955242344 | OTOG | c.8687G= (p.Arg2896=) c.8651G= (p.Arg2884=) | |
| 11 | g.17645853G>T | CA379792605 | OTOG | c.8687G>T (p.Arg2896Leu) c.8651G>T (p.Arg2884Leu) | |
| 11 | g.17645854G>A | CA473301210 | OTOG | c.8688G>A (p.Arg2896=) c.8652G>A (p.Arg2884=) | gnomAD v4 |
| 11 | g.17645854G>C | CA473301211 | OTOG | c.8688G>C (p.Arg2896=) c.8652G>C (p.Arg2884=) | |
| 11 | g.17645854G>T | CA473301209 | OTOG | c.8688G>T (p.Arg2896=) c.8652G>T (p.Arg2884=) | |
| 11 | g.17645855C>A | CA379792624 | OTOG | c.8689C>A (p.Arg2897Ser) c.8653C>A (p.Arg2885Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17645855C= | CA1955242345 | OTOG | c.8689C= (p.Arg2897=) c.8653C= (p.Arg2885=) | |
| 11 | g.17645855C>G | CA379792630 | OTOG | c.8689C>G (p.Arg2897Gly) c.8653C>G (p.Arg2885Gly) | |
| 11 | g.17645855C>T | CA5906329 | OTOG | c.8689C>T (p.Arg2897Cys) c.8653C>T (p.Arg2885Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.17645856G>A | CA5906330 | OTOG | c.8690G>A (p.Arg2897His) c.8654G>A (p.Arg2885His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17645856G>C | CA379792644 | OTOG | c.8690G>C (p.Arg2897Pro) c.8654G>C (p.Arg2885Pro) | |
| 11 | g.17645856G= | CA1955242346 | OTOG | c.8690G= (p.Arg2897=) c.8654G= (p.Arg2885=) | |
| 11 | g.17645856G>T | CA379792649 | OTOG | c.8690G>T (p.Arg2897Leu) c.8654G>T (p.Arg2885Leu) | |
| 11 | g.17645857C>A | CA473301213 | OTOG | c.8691C>A (p.Arg2897=) c.8655C>A (p.Arg2885=) | |
| 11 | g.17645857C>G | CA473301214 | OTOG | c.8691C>G (p.Arg2897=) c.8655C>G (p.Arg2885=) | |
| 11 | g.17645857C>T | CA473301215 | OTOG | c.8691C>T (p.Arg2897=) c.8655C>T (p.Arg2885=) | gnomAD v4 |
| 11 | g.17645858T>A | CA379792652 | OTOG | c.8692T>A (p.Ser2898Thr) c.8656T>A (p.Ser2886Thr) | |
| 11 | g.17645858T>C | CA379792660 | OTOG | c.8692T>C (p.Ser2898Pro) c.8656T>C (p.Ser2886Pro) | |
| 11 | g.17645858T>G | CA379792654 | OTOG | c.8692T>G (p.Ser2898Ala) c.8656T>G (p.Ser2886Ala) | |
| 11 | g.17645865_17645877del | CA2612692783 | OTOG | c.8699_8711del (p.Gln2900ProfsTer?) c.8663_8675del (p.Gln2888ProfsTer?) | gnomAD v4 |
| 11 | g.17645859C>A | CA379792667 | OTOG | c.8693C>A (p.Ser2898Tyr) c.8657C>A (p.Ser2886Tyr) | |
| 11 | g.17645859C>G | CA379792673 | OTOG | c.8693C>G (p.Ser2898Cys) c.8657C>G (p.Ser2886Cys) | |
| 11 | g.17645859C>T | CA379792671 | OTOG | c.8693C>T (p.Ser2898Phe) c.8657C>T (p.Ser2886Phe) | |
| 11 | g.17645860T>A | CA473301216 | OTOG | c.8694T>A (p.Ser2898=) c.8658T>A (p.Ser2886=) | |
| 11 | g.17645860T>C | CA473301218 | OTOG | c.8694T>C (p.Ser2898=) c.8658T>C (p.Ser2886=) | dbSNP gnomAD v4 |
| 11 | g.17645860T>G | CA473301219 | OTOG | c.8694T>G (p.Ser2898=) c.8658T>G (p.Ser2886=) | |
| 11 | g.17645860T= | CA1955242347 | OTOG | c.8694T= (p.Ser2898=) c.8658T= (p.Ser2886=) | |
| 11 | g.17645861G>A | CA379792679 | OTOG | c.8695G>A (p.Val2899Met) c.8659G>A (p.Val2887Met) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17645861G>C | CA379792683 | OTOG | c.8695G>C (p.Val2899Leu) c.8659G>C (p.Val2887Leu) | |
| 11 | g.17645861G= | CA1955242348 | OTOG | c.8695G= (p.Val2899=) c.8659G= (p.Val2887=) | |
| 11 | g.17645861G>T | CA379792687 | OTOG | c.8695G>T (p.Val2899Leu) c.8659G>T (p.Val2887Leu) | |
| 11 | g.17645862T>A | CA379792693 | OTOG | c.8696T>A (p.Val2899Glu) c.8660T>A (p.Val2887Glu) | |
| 11 | g.17645862T>C | CA379792698 | OTOG | c.8696T>C (p.Val2899Ala) c.8660T>C (p.Val2887Ala) | |
| 11 | g.17645862T>G | CA379792706 | OTOG | c.8696T>G (p.Val2899Gly) c.8660T>G (p.Val2887Gly) | |
| 11 | g.17645863G>A | CA218458561 | OTOG | c.8697G>A (p.Val2899=) c.8661G>A (p.Val2887=) | dbSNP |
| 11 | g.17645863G>C | CA473301221 | OTOG | c.8697G>C (p.Val2899=) c.8661G>C (p.Val2887=) | |
| 11 | g.17645863G= | CA1955242349 | OTOG | c.8697G= (p.Val2899=) c.8661G= (p.Val2887=) | |
| 11 | g.17645863G>T | CA473301222 | OTOG | c.8697G>T (p.Val2899=) c.8661G>T (p.Val2887=) | gnomAD v4 |
| 11 | g.17645864C>A | CA379792718 | OTOG | c.8698C>A (p.Gln2900Lys) c.8662C>A (p.Gln2888Lys) | |
| 11 | g.17645864C= | CA1955242350 | OTOG | c.8698C= (p.Gln2900=) c.8662C= (p.Gln2888=) | |
| 11 | g.17645864C>G | CA379792721 | OTOG | c.8698C>G (p.Gln2900Glu) c.8662C>G (p.Gln2888Glu) | |
| 11 | g.17645864C>T | CA379792725 | OTOG | c.8698C>T (p.Gln2900Ter) c.8662C>T (p.Gln2888Ter) | ClinVar dbSNP gnomAD v4 |
| 11 | g.17645865A= | CA1955242351 | OTOG | c.8699A= (p.Gln2900=) c.8663A= (p.Gln2888=) | |
| 11 | g.17645865A>C | CA379792726 | OTOG | c.8699A>C (p.Gln2900Pro) c.8663A>C (p.Gln2888Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17645865A>G | CA379792728 | OTOG | c.8699A>G (p.Gln2900Arg) c.8663A>G (p.Gln2888Arg) | gnomAD v4 |
| 11 | g.17645865A>T | CA379792732 | OTOG | c.8699A>T (p.Gln2900Leu) c.8663A>T (p.Gln2888Leu) | |
| 11 | g.17645866G>A | CA473301227 | OTOG | c.8700G>A (p.Gln2900=) c.8664G>A (p.Gln2888=) | |
| 11 | g.17645866G>C | CA379792744 | OTOG | c.8700G>C (p.Gln2900His) c.8664G>C (p.Gln2888His) | |
| 11 | g.17645866G>T | CA379792749 | OTOG | c.8700G>T (p.Gln2900His) c.8664G>T (p.Gln2888His) | |
| 11 | g.17645867C>A | CA379792753 | OTOG | c.8701C>A (p.Leu2901Ile) c.8665C>A (p.Leu2889Ile) | |
| 11 | g.17645867C= | CA1955242352 | OTOG | c.8701C= (p.Leu2901=) c.8665C= (p.Leu2889=) | |
| 11 | g.17645867C>G | CA379792755 | OTOG | c.8701C>G (p.Leu2901Val) c.8665C>G (p.Leu2889Val) | |
| 11 | g.17645867C>T | CA379792759 | OTOG | c.8701C>T (p.Leu2901Phe) c.8665C>T (p.Leu2889Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17645868T>A | CA379792764 | OTOG | c.8702T>A (p.Leu2901His) c.8666T>A (p.Leu2889His) | |
| 11 | g.17645868T>C | CA379792768 | OTOG | c.8702T>C (p.Leu2901Pro) c.8666T>C (p.Leu2889Pro) | |
| 11 | g.17645868T>G | CA379792773 | OTOG | c.8702T>G (p.Leu2901Arg) c.8666T>G (p.Leu2889Arg) | |
| 11 | g.17645869C>A | CA473301232 | OTOG | c.8703C>A (p.Leu2901=) c.8667C>A (p.Leu2889=) | |
| 11 | g.17645869C>G | CA473301233 | OTOG | c.8703C>G (p.Leu2901=) c.8667C>G (p.Leu2889=) | |
| 11 | g.17645869C>T | CA473301234 | OTOG | c.8703C>T (p.Leu2901=) c.8667C>T (p.Leu2889=) | gnomAD v4 COSMIC |
| 11 | g.17645870T>A | CA379792777 | OTOG | c.8704T>A (p.Phe2902Ile) c.8668T>A (p.Phe2890Ile) | |
| 11 | g.17645870T>C | CA379792781 | OTOG | c.8704T>C (p.Phe2902Leu) c.8668T>C (p.Phe2890Leu) | |
| 11 | g.17645870T>G | CA379792785 | OTOG | c.8704T>G (p.Phe2902Val) c.8668T>G (p.Phe2890Val) | |
| 11 | g.17645871T>A | CA379792786 | OTOG | c.8705T>A (p.Phe2902Tyr) c.8669T>A (p.Phe2890Tyr) | |
| 11 | g.17645871T>C | CA379792787 | OTOG | c.8705T>C (p.Phe2902Ser) c.8669T>C (p.Phe2890Ser) | |
| 11 | g.17645871T>G | CA379792789 | OTOG | c.8705T>G (p.Phe2902Cys) c.8669T>G (p.Phe2890Cys) | |
| 11 | g.17645872C>A | CA379792797 | OTOG | c.8706C>A (p.Phe2902Leu) c.8670C>A (p.Phe2890Leu) | |
| 11 | g.17645872C>G | CA379792798 | OTOG | c.8706C>G (p.Phe2902Leu) c.8670C>G (p.Phe2890Leu) | |
| 11 | g.17645872C>T | CA473301238 | OTOG | c.8706C>T (p.Phe2902=) c.8670C>T (p.Phe2890=) | gnomAD v4 |
| 11 | g.17645873T>A | CA379792799 | OTOG | c.8707T>A (p.Cys2903Ser) c.8671T>A (p.Cys2891Ser) | |
| 11 | g.17645873T>C | CA379792802 | OTOG | c.8707T>C (p.Cys2903Arg) c.8671T>C (p.Cys2891Arg) | |
| 11 | g.17645873T>G | CA379792815 | OTOG | c.8707T>G (p.Cys2903Gly) c.8671T>G (p.Cys2891Gly) | |
| 11 | g.17645874G>A | CA379792818 | OTOG | c.8708G>A (p.Cys2903Tyr) c.8672G>A (p.Cys2891Tyr) | |
| 11 | g.17645874G>C | CA379792822 | OTOG | c.8708G>C (p.Cys2903Ser) c.8672G>C (p.Cys2891Ser) | |
| 11 | g.17645874G>T | CA379792824 | OTOG | c.8708G>T (p.Cys2903Phe) c.8672G>T (p.Cys2891Phe) | |
| 11 | g.17645874_17645883delinsGTGCCACCAA | CA1955242353 | OTOG | c.8708_8717delinsGTGCCACCAA (p.Cys2903=) c.8672_8681delinsGTGCCACCAA (p.Cys2891=) | |
| 11 | g.17645875T>A | CA379792832 | OTOG | c.8709T>A (p.Cys2903Ter) c.8673T>A (p.Cys2891Ter) | |
| 11 | g.17645875T>C | CA473301240 | OTOG | c.8709T>C (p.Cys2903=) c.8673T>C (p.Cys2891=) | |
| 11 | g.17645875T>G | CA379792829 | OTOG | c.8709T>G (p.Cys2903Trp) c.8673T>G (p.Cys2891Trp) | |
| 11 | g.17645882_17645890del | CA918828414 | OTOG | c.8716_8724del (p.Asn2906_Thr2908del) c.8680_8688del (p.Asn2894_Thr2896del) | dbSNP |
| 11 | g.17645876G>A | CA379792840 | OTOG | c.8710G>A (p.Ala2904Thr) c.8674G>A (p.Ala2892Thr) | |
| 11 | g.17645876G>C | CA379792845 | OTOG | c.8710G>C (p.Ala2904Pro) c.8674G>C (p.Ala2892Pro) | |
| 11 | g.17645876G>T | CA379792848 | OTOG | c.8710G>T (p.Ala2904Ser) c.8674G>T (p.Ala2892Ser) | gnomAD v4 |
| 11 | g.17645877C>A | CA379792851 | OTOG | c.8711C>A (p.Ala2904Asp) c.8675C>A (p.Ala2892Asp) | |
| 11 | g.17645877C= | CA1955242354 | OTOG | c.8711C= (p.Ala2904=) c.8675C= (p.Ala2892=) | |
| 11 | g.17645877C>G | CA379792852 | OTOG | c.8711C>G (p.Ala2904Gly) c.8675C>G (p.Ala2892Gly) | |
| 11 | g.17645877C>T | CA379792858 | OTOG | c.8711C>T (p.Ala2904Val) c.8675C>T (p.Ala2892Val) | dbSNP gnomAD v2 |
| 11 | g.17645878C>A | CA473301242 | OTOG | c.8712C>A (p.Ala2904=) c.8676C>A (p.Ala2892=) | |
| 11 | g.17645878C>G | CA473301244 | OTOG | c.8712C>G (p.Ala2904=) c.8676C>G (p.Ala2892=) | |
| 11 | g.17645878C>T | CA473301246 | OTOG | c.8712C>T (p.Ala2904=) c.8676C>T (p.Ala2892=) | |
| 11 | g.17645879A= | CA1955242355 | OTOG | c.8713A= (p.Thr2905=) c.8677A= (p.Thr2893=) | |
| 11 | g.17645879A>C | CA379792862 | OTOG | c.8713A>C (p.Thr2905Pro) c.8677A>C (p.Thr2893Pro) | |
| 11 | g.17645879A>G | CA379792866 | OTOG | c.8713A>G (p.Thr2905Ala) c.8677A>G (p.Thr2893Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17645879A>T | CA379792864 | OTOG | c.8713A>T (p.Thr2905Ser) c.8677A>T (p.Thr2893Ser) | |
| 11 | g.17645880C>A | CA379792868 | OTOG | c.8714C>A (p.Thr2905Asn) c.8678C>A (p.Thr2893Asn) | |
| 11 | g.17645880C= | CA1955242356 | OTOG | c.8714C= (p.Thr2905=) c.8678C= (p.Thr2893=) | |
| 11 | g.17645880C>G | CA379792873 | OTOG | c.8714C>G (p.Thr2905Ser) c.8678C>G (p.Thr2893Ser) | |
| 11 | g.17645880C>T | CA379792876 | OTOG | c.8714C>T (p.Thr2905Ile) c.8678C>T (p.Thr2893Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.17645881C>A | CA473301250 | OTOG | c.8715C>A (p.Thr2905=) c.8679C>A (p.Thr2893=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17645881C= | CA1955242357 | OTOG | c.8715C= (p.Thr2905=) c.8679C= (p.Thr2893=) | |
| 11 | g.17645881C>G | CA473301251 | OTOG | c.8715C>G (p.Thr2905=) c.8679C>G (p.Thr2893=) | |
| 11 | g.17645881C>T | CA473301252 | OTOG | c.8715C>T (p.Thr2905=) c.8679C>T (p.Thr2893=) | dbSNP |
| 11 | g.17645882A>C | CA379792880 | OTOG | c.8716A>C (p.Asn2906His) c.8680A>C (p.Asn2894His) | |
| 11 | g.17645882A>G | CA379792882 | OTOG | c.8716A>G (p.Asn2906Asp) c.8680A>G (p.Asn2894Asp) | |
| 11 | g.17645882A>T | CA379792885 | OTOG | c.8716A>T (p.Asn2906Tyr) c.8680A>T (p.Asn2894Tyr) | |
| 11 | g.17645883A>C | CA379792888 | OTOG | c.8717A>C (p.Asn2906Thr) c.8681A>C (p.Asn2894Thr) | |
| 11 | g.17645883A>G | CA379792889 | OTOG | c.8717A>G (p.Asn2906Ser) c.8681A>G (p.Asn2894Ser) | |
| 11 | g.17645883A>T | CA379792891 | OTOG | c.8717A>T (p.Asn2906Ile) c.8681A>T (p.Asn2894Ile) | |
| 11 | g.17645884T>A | CA379792894 | OTOG | c.8718T>A (p.Asn2906Lys) c.8682T>A (p.Asn2894Lys) | |
| 11 | g.17645884T>C | CA473301260 | OTOG | c.8718T>C (p.Asn2906=) c.8682T>C (p.Asn2894=) | |
| 11 | g.17645884T>G | CA379792897 | OTOG | c.8718T>G (p.Asn2906Lys) c.8682T>G (p.Asn2894Lys) | |
| 11 | g.17645885G>A | CA379792901 | OTOG | c.8719G>A (p.Ala2907Thr) c.8683G>A (p.Ala2895Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17645885G>C | CA379792906 | OTOG | c.8719G>C (p.Ala2907Pro) c.8683G>C (p.Ala2895Pro) | |
| 11 | g.17645885G= | CA1955242358 | OTOG | c.8719G= (p.Ala2907=) c.8683G= (p.Ala2895=) | |
| 11 | g.17645885G>T | CA379792904 | OTOG | c.8719G>T (p.Ala2907Ser) c.8683G>T (p.Ala2895Ser) | |
| 11 | g.17645886C>A | CA379792908 | OTOG | c.8720C>A (p.Ala2907Asp) c.8684C>A (p.Ala2895Asp) | |
| 11 | g.17645886C= | CA1955242359 | OTOG | c.8720C= (p.Ala2907=) c.8684C= (p.Ala2895=) | |
| 11 | g.17645886C>G | CA379792910 | OTOG | c.8720C>G (p.Ala2907Gly) c.8684C>G (p.Ala2895Gly) | |
| 11 | g.17645886C>T | CA379792912 | OTOG | c.8720C>T (p.Ala2907Val) c.8684C>T (p.Ala2895Val) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.17645887C>A | CA473301264 | OTOG | c.8721C>A (p.Ala2907=) c.8685C>A (p.Ala2895=) | |
| 11 | g.17645887C= | CA1955242360 | OTOG | c.8721C= (p.Ala2907=) c.8685C= (p.Ala2895=) | |
| 11 | g.17645887C>G | CA473301266 | OTOG | c.8721C>G (p.Ala2907=) c.8685C>G (p.Ala2895=) | |
| 11 | g.17645887C>T | CA473301265 | OTOG | c.8721C>T (p.Ala2907=) c.8685C>T (p.Ala2895=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17645888A>C | CA379792916 | OTOG | c.8722A>C (p.Thr2908Pro) c.8686A>C (p.Thr2896Pro) | |
| 11 | g.17645888A>G | CA379792917 | OTOG | c.8722A>G (p.Thr2908Ala) c.8686A>G (p.Thr2896Ala) | gnomAD v4 |
| 11 | g.17645888A>T | CA379792919 | OTOG | c.8722A>T (p.Thr2908Ser) c.8686A>T (p.Thr2896Ser) | |
| 11 | g.17645889C>A | CA379792927 | OTOG | c.8723C>A (p.Thr2908Asn) c.8687C>A (p.Thr2896Asn) | |
| 11 | g.17645889C= | CA1955242361 | OTOG | c.8723C= (p.Thr2908=) c.8687C= (p.Thr2896=) | |
| 11 | g.17645889C>G | CA379792925 | OTOG | c.8723C>G (p.Thr2908Ser) c.8687C>G (p.Thr2896Ser) | |
| 11 | g.17645889C>T | CA379792923 | OTOG | c.8723C>T (p.Thr2908Ile) c.8687C>T (p.Thr2896Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17645890C>A | CA473301269 | OTOG | c.8724C>A (p.Thr2908=) c.8688C>A (p.Thr2896=) | |
| 11 | g.17645890C>G | CA473301270 | OTOG | c.8724C>G (p.Thr2908=) c.8688C>G (p.Thr2896=) | |
| 11 | g.17645890C>T | CA473301271 | OTOG | c.8724C>T (p.Thr2908=) c.8688C>T (p.Thr2896=) | |
| 11 | g.17645891T>A | CA379792928 | OTOG | c.8725T>A (p.Trp2909Arg) c.8689T>A (p.Trp2897Arg) | |
| 11 | g.17645891T>C | CA379792929 | OTOG | c.8725T>C (p.Trp2909Arg) c.8689T>C (p.Trp2897Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17645891T>G | CA379792931 | OTOG | c.8725T>G (p.Trp2909Gly) c.8689T>G (p.Trp2897Gly) | |
| 11 | g.17645891T= | CA1955242362 | OTOG | c.8725T= (p.Trp2909=) c.8689T= (p.Trp2897=) | |
| 11 | g.17645892G>A | CA379792934 | OTOG | c.8726G>A (p.Trp2909Ter) c.8690G>A (p.Trp2897Ter) | |
| 11 | g.17645892G>C | CA5906331 | OTOG | c.8726G>C (p.Trp2909Ser) c.8690G>C (p.Trp2897Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17645892G= | CA1955242363 | OTOG | c.8726G= (p.Trp2909=) c.8690G= (p.Trp2897=) | |
| 11 | g.17645892G>T | CA379792937 | OTOG | c.8726G>T (p.Trp2909Leu) c.8690G>T (p.Trp2897Leu) | gnomAD v4 |
| 11 | g.17645894del | CA2612692784 | OTOG | c.8728del (p.Val2910CysfsTer?) c.8692del (p.Val2898CysfsTer?) | gnomAD v4 |
| 11 | g.17645893G>A | CA379792938 | OTOG | c.8727G>A (p.Trp2909Ter) c.8691G>A (p.Trp2897Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17645893G>C | CA379792942 | OTOG | c.8727G>C (p.Trp2909Cys) c.8691G>C (p.Trp2897Cys) | gnomAD v4 |
| 11 | g.17645893G= | CA1955242364 | OTOG | c.8727G= (p.Trp2909=) c.8691G= (p.Trp2897=) | |
| 11 | g.17645893G>T | CA379792939 | OTOG | c.8727G>T (p.Trp2909Cys) c.8691G>T (p.Trp2897Cys) | |
| 11 | g.17645894G>A | CA379792946 | OTOG | c.8728G>A (p.Val2910Met) c.8692G>A (p.Val2898Met) | |
| 11 | g.17645894G>C | CA379792950 | OTOG | c.8728G>C (p.Val2910Leu) c.8692G>C (p.Val2898Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17645894G= | CA1955242365 | OTOG | c.8728G= (p.Val2910=) c.8692G= (p.Val2898=) | |
| 11 | g.17645894G>T | CA379792959 | OTOG | c.8728G>T (p.Val2910Leu) c.8692G>T (p.Val2898Leu) | |
| 11 | g.17645899_17645929del | CA2790599130 | OTOG | c.8733_8763del (p.Tyr2912AlafsTer?) c.8697_8727del (p.Tyr2900AlafsTer?) | |
| 11 | g.17645895T>A | CA379792968 | OTOG | c.8729T>A (p.Val2910Glu) c.8693T>A (p.Val2898Glu) | |
| 11 | g.17645895T>C | CA379792972 | OTOG | c.8729T>C (p.Val2910Ala) c.8693T>C (p.Val2898Ala) | |
| 11 | g.17645895T>G | CA379792978 | OTOG | c.8729T>G (p.Val2910Gly) c.8693T>G (p.Val2898Gly) | gnomAD v4 |
| 11 | g.17645896G>A | CA473301279 | OTOG | c.8730G>A (p.Val2910=) c.8694G>A (p.Val2898=) | |
| 11 | g.17645896G>C | CA473301281 | OTOG | c.8730G>C (p.Val2910=) c.8694G>C (p.Val2898=) | |
| 11 | g.17645896G>T | CA473301282 | OTOG | c.8730G>T (p.Val2910=) c.8694G>T (p.Val2898=) | |
| 11 | g.17645897C>A | CA379792983 | OTOG | c.8731C>A (p.Pro2911Thr) c.8695C>A (p.Pro2899Thr) | |
| 11 | g.17645897C= | CA1955242366 | OTOG | c.8731C= (p.Pro2911=) c.8695C= (p.Pro2899=) | |
| 11 | g.17645897C>G | CA379792987 | OTOG | c.8731C>G (p.Pro2911Ala) c.8695C>G (p.Pro2899Ala) | |
| 11 | g.17645897C>T | CA379792990 | OTOG | c.8731C>T (p.Pro2911Ser) c.8695C>T (p.Pro2899Ser) | dbSNP |
| 11 | g.17645898C>A | CA379793000 | OTOG | c.8732C>A (p.Pro2911His) c.8696C>A (p.Pro2899His) | gnomAD v4 |
| 11 | g.17645898C>G | CA379793004 | OTOG | c.8732C>G (p.Pro2911Arg) c.8696C>G (p.Pro2899Arg) | |
| 11 | g.17645898C>T | CA379793007 | OTOG | c.8732C>T (p.Pro2911Leu) c.8696C>T (p.Pro2899Leu) | |
| 11 | g.17645899C>A | CA473301287 | OTOG | c.8733C>A (p.Pro2911=) c.8697C>A (p.Pro2899=) | gnomAD v4 |
| 11 | g.17645899C>G | CA473301288 | OTOG | c.8733C>G (p.Pro2911=) c.8697C>G (p.Pro2899=) | |
| 11 | g.17645899C>T | CA473301289 | OTOG | c.8733C>T (p.Pro2911=) c.8697C>T (p.Pro2899=) | |
| 11 | g.17645900T>A | CA379793017 | OTOG | c.8734T>A (p.Tyr2912Asn) c.8698T>A (p.Tyr2900Asn) | |
| 11 | g.17645900T>C | CA379793014 | OTOG | c.8734T>C (p.Tyr2912His) c.8698T>C (p.Tyr2900His) | dbSNP gnomAD v4 |
| 11 | g.17645900T>G | CA379793016 | OTOG | c.8734T>G (p.Tyr2912Asp) c.8698T>G (p.Tyr2900Asp) | |
| 11 | g.17645900T= | CA1955242367 | OTOG | c.8734T= (p.Tyr2912=) c.8698T= (p.Tyr2900=) | |
| 11 | g.17645901A>C | CA379793019 | OTOG | c.8735A>C (p.Tyr2912Ser) c.8699A>C (p.Tyr2900Ser) | gnomAD v4 |
| 11 | g.17645901A>G | CA379793022 | OTOG | c.8735A>G (p.Tyr2912Cys) c.8699A>G (p.Tyr2900Cys) | |
| 11 | g.17645901A>T | CA379793027 | OTOG | c.8735A>T (p.Tyr2912Phe) c.8699A>T (p.Tyr2900Phe) | |
| 11 | g.17645902T>A | CA379793031 | OTOG | c.8736T>A (p.Tyr2912Ter) c.8700T>A (p.Tyr2900Ter) | |
| 11 | g.17645902T>C | CA473301293 | OTOG | c.8736T>C (p.Tyr2912=) c.8700T>C (p.Tyr2900=) | dbSNP gnomAD v4 |
| 11 | g.17645902T>G | CA379793034 | OTOG | c.8736T>G (p.Tyr2912Ter) c.8700T>G (p.Tyr2900Ter) | |
| 11 | g.17645903A>C | CA379793037 | OTOG | c.8737A>C (p.Thr2913Pro) c.8701A>C (p.Thr2901Pro) | |
| 11 | g.17645903A>G | CA379793036 | OTOG | c.8737A>G (p.Thr2913Ala) c.8701A>G (p.Thr2901Ala) | |
| 11 | g.17645903A>T | CA379793035 | OTOG | c.8737A>T (p.Thr2913Ser) c.8701A>T (p.Thr2901Ser) | |
| 11 | g.17645904C>A | CA379793038 | OTOG | c.8738C>A (p.Thr2913Lys) c.8702C>A (p.Thr2901Lys) | |
| 11 | g.17645904C>G | CA379793040 | OTOG | c.8738C>G (p.Thr2913Arg) c.8702C>G (p.Thr2901Arg) | |
| 11 | g.17645904C>T | CA379793042 | OTOG | c.8738C>T (p.Thr2913Ile) c.8702C>T (p.Thr2901Ile) | gnomAD v4 |
| 11 | g.17645905A>C | CA473301299 | OTOG | c.8739A>C (p.Thr2913=) c.8703A>C (p.Thr2901=) | |
| 11 | g.17645905A>G | CA473301300 | OTOG | c.8739A>G (p.Thr2913=) c.8703A>G (p.Thr2901=) | gnomAD v4 |
| 11 | g.17645905A>T | CA473301301 | OTOG | c.8739A>T (p.Thr2913=) c.8703A>T (p.Thr2901=) | |
| 11 | g.17645906G>A | CA379793047 | OTOG | c.8740G>A (p.Val2914Met) c.8704G>A (p.Val2902Met) | |
| 11 | g.17645906G>C | CA379793051 | OTOG | c.8740G>C (p.Val2914Leu) c.8704G>C (p.Val2902Leu) | |
| 11 | g.17645906G>T | CA379793054 | OTOG | c.8740G>T (p.Val2914Leu) c.8704G>T (p.Val2902Leu) | gnomAD v4 |
| 11 | g.17645907T>A | CA379793056 | OTOG | c.8741T>A (p.Val2914Glu) c.8705T>A (p.Val2902Glu) | |
| 11 | g.17645907T>C | CA379793058 | OTOG | c.8741T>C (p.Val2914Ala) c.8705T>C (p.Val2902Ala) | |
| 11 | g.17645907T>G | CA218458562 | OTOG | c.8741T>G (p.Val2914Gly) c.8705T>G (p.Val2902Gly) | dbSNP |
| 11 | g.17645907T= | CA1955242368 | OTOG | c.8741T= (p.Val2914=) c.8705T= (p.Val2902=) | |
| 11 | g.17645908G>A | CA473301304 | OTOG | c.8742G>A (p.Val2914=) c.8706G>A (p.Val2902=) | gnomAD v4 |
| 11 | g.17645908G>C | CA473301306 | OTOG | c.8742G>C (p.Val2914=) c.8706G>C (p.Val2902=) | |
| 11 | g.17645908G>T | CA473301307 | OTOG | c.8742G>T (p.Val2914=) c.8706G>T (p.Val2902=) | |
| 11 | g.17645909C>A | CA379793062 | OTOG | c.8743C>A (p.Gln2915Lys) c.8707C>A (p.Gln2903Lys) | |
| 11 | g.17645909C>G | CA379793064 | OTOG | c.8743C>G (p.Gln2915Glu) c.8707C>G (p.Gln2903Glu) | |
| 11 | g.17645909C>T | CA379793067 | OTOG | c.8743C>T (p.Gln2915Ter) c.8707C>T (p.Gln2903Ter) | gnomAD v4 |
| 11 | g.17645910A>C | CA379793070 | OTOG | c.8744A>C (p.Gln2915Pro) c.8708A>C (p.Gln2903Pro) | |
| 11 | g.17645910A>G | CA379793071 | OTOG | c.8744A>G (p.Gln2915Arg) c.8708A>G (p.Gln2903Arg) | |
| 11 | g.17645910A>T | CA379793072 | OTOG | c.8744A>T (p.Gln2915Leu) c.8708A>T (p.Gln2903Leu) | |
| 11 | g.17645911G>A | CA218458564 | OTOG | c.8745G>A (p.Gln2915=) c.8709G>A (p.Gln2903=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.17645911G>C | CA379793075 | OTOG | c.8745G>C (p.Gln2915His) c.8709G>C (p.Gln2903His) | |
| 11 | g.17645911G= | CA1955242369 | OTOG | c.8745G= (p.Gln2915=) c.8709G= (p.Gln2903=) | |
| 11 | g.17645911G>T | CA379793077 | OTOG | c.8745G>T (p.Gln2915His) c.8709G>T (p.Gln2903His) | |
| 11 | g.17645912G>A | CA379793081 | OTOG | c.8746G>A (p.Glu2916Lys) c.8710G>A (p.Glu2904Lys) | gnomAD v4 |
| 11 | g.17645912G>C | CA379793084 | OTOG | c.8746G>C (p.Glu2916Gln) c.8710G>C (p.Glu2904Gln) | |
| 11 | g.17645912G>T | CA379793086 | OTOG | c.8746G>T (p.Glu2916Ter) c.8710G>T (p.Glu2904Ter) | |
| 11 | g.17645913A>C | CA379793089 | OTOG | c.8747A>C (p.Glu2916Ala) c.8711A>C (p.Glu2904Ala) | |
| 11 | g.17645913A>G | CA379793096 | OTOG | c.8747A>G (p.Glu2916Gly) c.8711A>G (p.Glu2904Gly) | |
| 11 | g.17645913A>T | CA379793094 | OTOG | c.8747A>T (p.Glu2916Val) c.8711A>T (p.Glu2904Val) | |
| 11 | g.17645914G>A | CA473301313 | OTOG | c.8748G>A (p.Glu2916=) c.8712G>A (p.Glu2904=) | |
| 11 | g.17645914G>C | CA379793097 | OTOG | c.8748G>C (p.Glu2916Asp) c.8712G>C (p.Glu2904Asp) | |
| 11 | g.17645914G>T | CA379793100 | OTOG | c.8748G>T (p.Glu2916Asp) c.8712G>T (p.Glu2904Asp) | |
| 11 | g.17645915C>A | CA379793103 | OTOG | c.8749C>A (p.Pro2917Thr) c.8713C>A (p.Pro2905Thr) | gnomAD v4 |
| 11 | g.17645915C>G | CA379793104 | OTOG | c.8749C>G (p.Pro2917Ala) c.8713C>G (p.Pro2905Ala) | |
| 11 | g.17645915C>T | CA379793108 | OTOG | c.8749C>T (p.Pro2917Ser) c.8713C>T (p.Pro2905Ser) | gnomAD v4 |
| 11 | g.17645916C>A | CA379793113 | OTOG | c.8750C>A (p.Pro2917His) c.8714C>A (p.Pro2905His) | |
| 11 | g.17645916C= | CA1955242370 | OTOG | c.8750C= (p.Pro2917=) c.8714C= (p.Pro2905=) | |
| 11 | g.17645916C>G | CA379793116 | OTOG | c.8750C>G (p.Pro2917Arg) c.8714C>G (p.Pro2905Arg) | |
| 11 | g.17645916C>T | CA379793118 | OTOG | c.8750C>T (p.Pro2917Leu) c.8714C>T (p.Pro2905Leu) | dbSNP |
| 11 | g.17645917C>A | CA473301314 | OTOG | c.8751C>A (p.Pro2917=) c.8715C>A (p.Pro2905=) | |
| 11 | g.17645917C>G | CA473301315 | OTOG | c.8751C>G (p.Pro2917=) c.8715C>G (p.Pro2905=) | |
| 11 | g.17645917C>T | CA473301316 | OTOG | c.8751C>T (p.Pro2917=) c.8715C>T (p.Pro2905=) | gnomAD v4 |
| 11 | g.17645918A= | CA1955242371 | OTOG | c.8752A= (p.Thr2918=) c.8716A= (p.Thr2906=) | |
| 11 | g.17645918A>C | CA379793123 | OTOG | c.8752A>C (p.Thr2918Pro) c.8716A>C (p.Thr2906Pro) | dbSNP |
| 11 | g.17645918A>G | CA379793126 | OTOG | c.8752A>G (p.Thr2918Ala) c.8716A>G (p.Thr2906Ala) | |
| 11 | g.17645918A>T | CA379793137 | OTOG | c.8752A>T (p.Thr2918Ser) c.8716A>T (p.Thr2906Ser) | |
| 11 | g.17645919C>A | CA379793142 | OTOG | c.8753C>A (p.Thr2918Asn) c.8717C>A (p.Thr2906Asn) | |
| 11 | g.17645919C>G | CA379793145 | OTOG | c.8753C>G (p.Thr2918Ser) c.8717C>G (p.Thr2906Ser) | |
| 11 | g.17645919C>T | CA379793147 | OTOG | c.8753C>T (p.Thr2918Ile) c.8717C>T (p.Thr2906Ile) | gnomAD v4 |
| 11 | g.17645920C>A | CA473301317 | OTOG | c.8754C>A (p.Thr2918=) c.8718C>A (p.Thr2906=) | gnomAD v4 |
| 11 | g.17645920C= | CA1955242372 | OTOG | c.8754C= (p.Thr2918=) c.8718C= (p.Thr2906=) | |
| 11 | g.17645920C>G | CA473301318 | OTOG | c.8754C>G (p.Thr2918=) c.8718C>G (p.Thr2906=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.17645920C>T | CA473301319 | OTOG | c.8754C>T (p.Thr2918=) c.8718C>T (p.Thr2906=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.17645921G>A | CA5906332 | OTOG | c.8755G>A (p.Asp2919Asn) c.8719G>A (p.Asp2907Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17645921G>C | CA379793156 | OTOG | c.8755G>C (p.Asp2919His) c.8719G>C (p.Asp2907His) | |
| 11 | g.17645921G= | CA1955242373 | OTOG | c.8755G= (p.Asp2919=) c.8719G= (p.Asp2907=) | |
| 11 | g.17645921G>T | CA379793159 | OTOG | c.8755G>T (p.Asp2919Tyr) c.8719G>T (p.Asp2907Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.17645922A>C | CA379793166 | OTOG | c.8756A>C (p.Asp2919Ala) c.8720A>C (p.Asp2907Ala) | |
| 11 | g.17645922A>G | CA379793170 | OTOG | c.8756A>G (p.Asp2919Gly) c.8720A>G (p.Asp2907Gly) | |
| 11 | g.17645922A>T | CA379793173 | OTOG | c.8756A>T (p.Asp2919Val) c.8720A>T (p.Asp2907Val) | |
| 11 | g.17645923C>A | CA379793176 | OTOG | c.8757C>A (p.Asp2919Glu) c.8721C>A (p.Asp2907Glu) | |
| 11 | g.17645923C= | CA1955242374 | OTOG | c.8757C= (p.Asp2919=) c.8721C= (p.Asp2907=) | |
| 11 | g.17645923C>G | CA379793181 | OTOG | c.8757C>G (p.Asp2919Glu) c.8721C>G (p.Asp2907Glu) | |
| 11 | g.17645923C>T | CA218458569 | OTOG | c.8757C>T (p.Asp2919=) c.8721C>T (p.Asp2907=) | dbSNP gnomAD v4 |
| 11 | g.17645924T>A | CA379793202 | OTOG | c.8758T>A (p.Cys2920Ser) c.8722T>A (p.Cys2908Ser) | |
| 11 | g.17645924T>C | CA379793214 | OTOG | c.8758T>C (p.Cys2920Arg) c.8722T>C (p.Cys2908Arg) | dbSNP |
| 11 | g.17645924T>G | CA379793221 | OTOG | c.8758T>G (p.Cys2920Gly) c.8722T>G (p.Cys2908Gly) | |
| 11 | g.17645924T= | CA1955242375 | OTOG | c.8758T= (p.Cys2920=) c.8722T= (p.Cys2908=) | |
| 11 | g.17645925G>A | CA218458575 | OTOG | c.8759G>A (p.Cys2920Tyr) c.8723G>A (p.Cys2908Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17645925G>C | CA379793226 | OTOG | c.8759G>C (p.Cys2920Ser) c.8723G>C (p.Cys2908Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17645925G= | CA1955242376 | OTOG | c.8759G= (p.Cys2920=) c.8723G= (p.Cys2908=) | |
| 11 | g.17645925G>T | CA379793231 | OTOG | c.8759G>T (p.Cys2920Phe) c.8723G>T (p.Cys2908Phe) | gnomAD v4 |
| 11 | g.17645926T>A | CA379793236 | OTOG | c.8760T>A (p.Cys2920Ter) c.8724T>A (p.Cys2908Ter) | |
| 11 | g.17645926T>C | CA473301320 | OTOG | c.8760T>C (p.Cys2920=) c.8724T>C (p.Cys2908=) | |
| 11 | g.17645926T>G | CA379793239 | OTOG | c.8760T>G (p.Cys2920Trp) c.8724T>G (p.Cys2908Trp) | |
| 11 | g.17645927G>A | CA379793242 | OTOG | c.8761G>A (p.Ala2921Thr) c.8725G>A (p.Ala2909Thr) | |
| 11 | g.17645927G>C | CA379793246 | OTOG | c.8761G>C (p.Ala2921Pro) c.8725G>C (p.Ala2909Pro) | |
| 11 | g.17645927G>T | CA379793250 | OTOG | c.8761G>T (p.Ala2921Ser) c.8725G>T (p.Ala2909Ser) | gnomAD v4 |
| 11 | g.17645928C>A | CA379793274 | OTOG | c.8762C>A (p.Ala2921Asp) c.8726C>A (p.Ala2909Asp) | |
| 11 | g.17645928C>G | CA379793278 | OTOG | c.8762C>G (p.Ala2921Gly) c.8726C>G (p.Ala2909Gly) | |
| 11 | g.17645928C>T | CA379793283 | OTOG | c.8762C>T (p.Ala2921Val) c.8726C>T (p.Ala2909Val) | gnomAD v4 |
| 11 | g.17645929C>A | CA473301321 | OTOG | c.8763C>A (p.Ala2921=) c.8727C>A (p.Ala2909=) | |
| 11 | g.17645929C>G | CA473301323 | OTOG | c.8763C>G (p.Ala2921=) c.8727C>G (p.Ala2909=) | |
| 11 | g.17645929C>T | CA473301322 | OTOG | c.8763C>T (p.Ala2921=) c.8727C>T (p.Ala2909=) | |
| 11 | g.17645930T>A | CA379793295 | OTOG | c.8764T>A (p.Cys2922Ser) c.8728T>A (p.Cys2910Ser) | |
| 11 | g.17645930T>C | CA5906333 | OTOG | c.8764T>C (p.Cys2922Arg) c.8728T>C (p.Cys2910Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17645930T>G | CA379793292 | OTOG | c.8764T>G (p.Cys2922Gly) c.8728T>G (p.Cys2910Gly) | |
| 11 | g.17645930T= | CA1955242377 | OTOG | c.8764T= (p.Cys2922=) c.8728T= (p.Cys2910=) | |
| 11 | g.17645931G>A | CA379793301 | OTOG | c.8765G>A (p.Cys2922Tyr) c.8729G>A (p.Cys2910Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17645931G>C | CA379793308 | OTOG | c.8765G>C (p.Cys2922Ser) c.8729G>C (p.Cys2910Ser) | |
| 11 | g.17645931G= | CA1955242378 | OTOG | c.8765G= (p.Cys2922=) c.8729G= (p.Cys2910=) | |
| 11 | g.17645931G>T | CA379793310 | OTOG | c.8765G>T (p.Cys2922Phe) c.8729G>T (p.Cys2910Phe) | |
| 11 | g.17645932C>A | CA379793313 | OTOG | c.8766C>A (p.Cys2922Ter) c.8730C>A (p.Cys2910Ter) | COSMIC |
| 11 | g.17645932C>G | CA379793321 | OTOG | c.8766C>G (p.Cys2922Trp) c.8730C>G (p.Cys2910Trp) | |
| 11 | g.17645932C>T | CA473301324 | OTOG | c.8766C>T (p.Cys2922=) c.8730C>T (p.Cys2910=) | gnomAD v4 |
| 11 | g.17645933C>A | CA379793323 | OTOG | c.8767C>A (p.Gln2923Lys) c.8731C>A (p.Gln2911Lys) | |
| 11 | g.17645933C>G | CA379793327 | OTOG | c.8767C>G (p.Gln2923Glu) c.8731C>G (p.Gln2911Glu) | |
| 11 | g.17645933C>T | CA379793325 | OTOG | c.8767C>T (p.Gln2923Ter) c.8731C>T (p.Gln2911Ter) | |
| 11 | g.17645934A>C | CA379793329 | OTOG | c.8768A>C (p.Gln2923Pro) c.8732A>C (p.Gln2911Pro) | |
| 11 | g.17645934A>G | CA379793330 | OTOG | c.8768A>G (p.Gln2923Arg) c.8732A>G (p.Gln2911Arg) | gnomAD v4 |
| 11 | g.17645934A>T | CA379793331 | OTOG | c.8768A>T (p.Gln2923Leu) c.8732A>T (p.Gln2911Leu) | |
| 11 | g.17645935G>A | CA473301326 | OTOG | c.8769G>A (p.Gln2923=) c.8733G>A (p.Gln2911=) | |
| 11 | g.17645935G>C | CA379793332 | OTOG | c.8769G>C (p.Gln2923His) c.8733G>C (p.Gln2911His) | |
| 11 | g.17645935G>T | CA379793334 | OTOG | c.8769G>T (p.Gln2923His) c.8733G>T (p.Gln2911His) | |
| 11 | g.17645936T>A | CA379793338 | OTOG | c.8770T>A (p.Trp2924Arg) c.8734T>A (p.Trp2912Arg) | |
| 11 | g.17645936T>C | CA379793343 | OTOG | c.8770T>C (p.Trp2924Arg) c.8734T>C (p.Trp2912Arg) | |
| 11 | g.17645936T>G | CA379793349 | OTOG | c.8770T>G (p.Trp2924Gly) c.8734T>G (p.Trp2912Gly) | |
| 11 | g.17645937G>A | CA379793352 | OTOG | c.8771G>A (p.Trp2924Ter) c.8735G>A (p.Trp2912Ter) | |
| 11 | g.17645937G>C | CA379793353 | OTOG | c.8771G>C (p.Trp2924Ser) c.8735G>C (p.Trp2912Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17645937G= | CA1955242379 | OTOG | c.8771G= (p.Trp2924=) c.8735G= (p.Trp2912=) | |
| 11 | g.17645937G>T | CA379793355 | OTOG | c.8771G>T (p.Trp2924Leu) c.8735G>T (p.Trp2912Leu) | gnomAD v4 |
| 11 | g.17645938G>A | CA379793361 | OTOG | c.8772G>A (p.Trp2924Ter) c.8736G>A (p.Trp2912Ter) | |
| 11 | g.17645938G>C | CA379793364 | OTOG | c.8772G>C (p.Trp2924Cys) c.8736G>C (p.Trp2912Cys) | |
| 11 | g.17645938G>T | CA379793357 | OTOG | c.8772G>T (p.Trp2924Cys) c.8736G>T (p.Trp2912Cys) | |
| 11 | g.17645939T>A | CA379793365 | OTOG | c.8773T>A (p.Ser2925Thr) c.8737T>A (p.Ser2913Thr) | |
| 11 | g.17645939T>C | CA379793368 | OTOG | c.8773T>C (p.Ser2925Pro) c.8737T>C (p.Ser2913Pro) | |
| 11 | g.17645939T>G | CA379793366 | OTOG | c.8773T>G (p.Ser2925Ala) c.8737T>G (p.Ser2913Ala) | |
| 11 | g.17645940C>A | CA379793371 | OTOG | c.8774C>A (p.Ser2925Tyr) c.8738C>A (p.Ser2913Tyr) | gnomAD v4 |
| 11 | g.17645940C= | CA1955242380 | OTOG | c.8774C= (p.Ser2925=) c.8738C= (p.Ser2913=) | |
| 11 | g.17645940C>G | CA379793379 | OTOG | c.8774C>G (p.Ser2925Cys) c.8738C>G (p.Ser2913Cys) | |
| 11 | g.17645940C>T | CA379793377 | OTOG | c.8774C>T (p.Ser2925Phe) c.8738C>T (p.Ser2913Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17645941C>A | CA473301329 | OTOG | c.8775C>A (p.Ser2925=) c.8739C>A (p.Ser2913=) | gnomAD v4 |
| 11 | g.17645941C>G | CA473301330 | OTOG | c.8775C>G (p.Ser2925=) c.8739C>G (p.Ser2913=) | |
| 11 | g.17645941C>T | CA473301331 | OTOG | c.8775C>T (p.Ser2925=) c.8739C>T (p.Ser2913=) | |
| 11 | g.17645942T>A | CA379793385 | OTOG | c.8776T>A (p.Ter2926Arg) c.8740T>A (p.Ter2914Arg) | |
| 11 | g.17645942T>C | CA379793393 | OTOG | c.8776T>C (p.Ter2926Arg) c.8740T>C (p.Ter2914Arg) | |
| 11 | g.17645942T>G | CA379793388 | OTOG | c.8776T>G (p.Ter2926Gly) c.8740T>G (p.Ter2914Gly) | |
| 11 | g.17645943G>A | CA473301332 | OTOG | c.8777G>A (p.Ter2926=) c.8741G>A (p.Ter2914=) | |
| 11 | g.17645943G>C | CA379793395 | OTOG | c.8777G>C (p.Ter2926Ser) c.8741G>C (p.Ter2914Ser) | |
| 11 | g.17645943G>T | CA379793396 | OTOG | c.8777G>T (p.Ter2926Leu) c.8741G>T (p.Ter2914Leu) | |
| 11 | g.17645944A>C | CA379793398 | OTOG | c.8778A>C (p.Ter2926Cys) c.8742A>C (p.Ter2914Cys) | |
| 11 | g.17645944A>G | CA379793400 | OTOG | c.8778A>G (p.Ter2926Trp) c.8742A>G (p.Ter2914Trp) | |
| 11 | g.17645944A>T | CA379793403 | OTOG | c.8778A>T (p.Ter2926Cys) c.8742A>T (p.Ter2914Cys) | |
| 11 | g.17645945G>C | CA2612692785 | OTOG | c.8779G>C (n.8779G>C) c.*1G>C (n.*1G>C) c.8743G>C (n.8743G>C) | gnomAD v4 |
| 11 | g.17645946G>A | CA5906334 | OTOG | c.8780G>A (n.8780G>A) c.*2G>A (n.*2G>A) c.8744G>A (n.8744G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.17645946G= | CA1955242381 | OTOG | c.8780G= (n.8780G=) c.*2G= (n.*2G=) c.8744G= (n.8744G=) | |
| 11 | g.17645947C= | CA1955242382 | OTOG | c.8781C= (n.8781C=) c.*3C= (n.*3C=) c.8745C= (n.8745C=) | |
| 11 | g.17645947C>T | CA218458587 | OTOG | c.8781C>T (n.8781C>T) c.*3C>T (n.*3C>T) c.8745C>T (n.8745C>T) | dbSNP |
| 11 | g.17645948C= | CA1955242383 | OTOG | c.8782C= (n.8782C=) c.*4C= (n.*4C=) c.8746C= (n.8746C=) | |
| 11 | g.17645948C>T | CA597678334 | OTOG | c.8782C>T (n.8782C>T) c.*4C>T (n.*4C>T) c.8746C>T (n.8746C>T) | dbSNP gnomAD v2 gnomAD v4 |