UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.17645748A= | CA1955242287 | OTOG | c.8582A= (p.Asn2861=) c.8546A= (p.Asn2849=) | |
| 11 | g.17645748A>C | CA379791565 | OTOG | c.8582A>C (p.Asn2861Thr) c.8546A>C (p.Asn2849Thr) | dbSNP |
| 11 | g.17645748A>G | CA379791567 | OTOG | c.8582A>G (p.Asn2861Ser) c.8546A>G (p.Asn2849Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17645748A>T | CA379791571 | OTOG | c.8582A>T (p.Asn2861Ile) c.8546A>T (p.Asn2849Ile) | |
| 11 | g.17645749C>A | CA379791573 | OTOG | c.8583C>A (p.Asn2861Lys) c.8547C>A (p.Asn2849Lys) | |
| 11 | g.17645749C= | CA1955242288 | OTOG | c.8583C= (p.Asn2861=) c.8547C= (p.Asn2849=) | |
| 11 | g.17645749C>G | CA379791575 | OTOG | c.8583C>G (p.Asn2861Lys) c.8547C>G (p.Asn2849Lys) | gnomAD v4 |
| 11 | g.17645749C>T | CA473300835 | OTOG | c.8583C>T (p.Asn2861=) c.8547C>T (p.Asn2849=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17645750C>A | CA379791582 | OTOG | c.8584C>A (p.Leu2862Ile) c.8548C>A (p.Leu2850Ile) | |
| 11 | g.17645750C= | CA1955242289 | OTOG | c.8584C= (p.Leu2862=) c.8548C= (p.Leu2850=) | |
| 11 | g.17645750C>G | CA379791584 | OTOG | c.8584C>G (p.Leu2862Val) c.8548C>G (p.Leu2850Val) | |
| 11 | g.17645750C>T | CA473300836 | OTOG | c.8584C>T (p.Leu2862=) c.8548C>T (p.Leu2850=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17645751T>A | CA379791592 | OTOG | c.8585T>A (p.Leu2862Gln) c.8549T>A (p.Leu2850Gln) | |
| 11 | g.17645751T>C | CA379791594 | OTOG | c.8585T>C (p.Leu2862Pro) c.8549T>C (p.Leu2850Pro) | |
| 11 | g.17645751T>G | CA379791596 | OTOG | c.8585T>G (p.Leu2862Arg) c.8549T>G (p.Leu2850Arg) | |
| 11 | g.17645752A= | CA1955242290 | OTOG | c.8586A= (p.Leu2862=) c.8550A= (p.Leu2850=) | |
| 11 | g.17645752A>C | CA473300837 | OTOG | c.8586A>C (p.Leu2862=) c.8550A>C (p.Leu2850=) | dbSNP gnomAD v4 |
| 11 | g.17645752A>G | CA473300838 | OTOG | c.8586A>G (p.Leu2862=) c.8550A>G (p.Leu2850=) | |
| 11 | g.17645752A>T | CA473300839 | OTOG | c.8586A>T (p.Leu2862=) c.8550A>T (p.Leu2850=) | |
| 11 | g.17645753G>A | CA379791602 | OTOG | c.8587G>A (p.Val2863Met) c.8551G>A (p.Val2851Met) | gnomAD v4 |
| 11 | g.17645753G>C | CA379791605 | OTOG | c.8587G>C (p.Val2863Leu) c.8551G>C (p.Val2851Leu) | |
| 11 | g.17645753G>T | CA379791609 | OTOG | c.8587G>T (p.Val2863Leu) c.8551G>T (p.Val2851Leu) | |
| 11 | g.17645754T>A | CA379791612 | OTOG | c.8588T>A (p.Val2863Glu) c.8552T>A (p.Val2851Glu) | |
| 11 | g.17645754T>C | CA379791616 | OTOG | c.8588T>C (p.Val2863Ala) c.8552T>C (p.Val2851Ala) | dbSNP |
| 11 | g.17645754T>G | CA379791618 | OTOG | c.8588T>G (p.Val2863Gly) c.8552T>G (p.Val2851Gly) | |
| 11 | g.17645754T= | CA1955242291 | OTOG | c.8588T= (p.Val2863=) c.8552T= (p.Val2851=) | |
| 11 | g.17645755G>A | CA473300840 | OTOG | c.8589G>A (p.Val2863=) c.8553G>A (p.Val2851=) | |
| 11 | g.17645755G>C | CA473300841 | OTOG | c.8589G>C (p.Val2863=) c.8553G>C (p.Val2851=) | |
| 11 | g.17645755G>T | CA473300842 | OTOG | c.8589G>T (p.Val2863=) c.8553G>T (p.Val2851=) | |
| 11 | g.17645756T>A | CA379791621 | OTOG | c.8590T>A (p.Ser2864Thr) c.8554T>A (p.Ser2852Thr) | |
| 11 | g.17645756T>C | CA379791623 | OTOG | c.8590T>C (p.Ser2864Pro) c.8554T>C (p.Ser2852Pro) | |
| 11 | g.17645756T>G | CA379791626 | OTOG | c.8590T>G (p.Ser2864Ala) c.8554T>G (p.Ser2852Ala) | |
| 11 | g.17645757C>A | CA379791642 | OTOG | c.8591C>A (p.Ser2864Tyr) c.8555C>A (p.Ser2852Tyr) | |
| 11 | g.17645757C>G | CA379791633 | OTOG | c.8591C>G (p.Ser2864Cys) c.8555C>G (p.Ser2852Cys) | |
| 11 | g.17645757C>T | CA379791637 | OTOG | c.8591C>T (p.Ser2864Phe) c.8555C>T (p.Ser2852Phe) | |
| 11 | g.17645758C>A | CA473300843 | OTOG | c.8592C>A (p.Ser2864=) c.8556C>A (p.Ser2852=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.17645758C= | CA1955242292 | OTOG | c.8592C= (p.Ser2864=) c.8556C= (p.Ser2852=) | |
| 11 | g.17645758C>G | CA473300844 | OTOG | c.8592C>G (p.Ser2864=) c.8556C>G (p.Ser2852=) | |
| 11 | g.17645758C>T | CA473300845 | OTOG | c.8592C>T (p.Ser2864=) c.8556C>T (p.Ser2852=) | |
| 11 | g.17645759T>A | CA379791647 | OTOG | c.8593T>A (p.Cys2865Ser) c.8557T>A (p.Cys2853Ser) | |
| 11 | g.17645759T>C | CA379791648 | OTOG | c.8593T>C (p.Cys2865Arg) c.8557T>C (p.Cys2853Arg) | |
| 11 | g.17645759T>G | CA379791649 | OTOG | c.8593T>G (p.Cys2865Gly) c.8557T>G (p.Cys2853Gly) | |
| 11 | g.17645760G>A | CA379791652 | OTOG | c.8594G>A (p.Cys2865Tyr) c.8558G>A (p.Cys2853Tyr) | |
| 11 | g.17645760G>C | CA379791657 | OTOG | c.8594G>C (p.Cys2865Ser) c.8558G>C (p.Cys2853Ser) | |
| 11 | g.17645760G>T | CA379791659 | OTOG | c.8594G>T (p.Cys2865Phe) c.8558G>T (p.Cys2853Phe) | |
| 11 | g.17645761C>A | CA379791665 | OTOG | c.8595C>A (p.Cys2865Ter) c.8559C>A (p.Cys2853Ter) | dbSNP gnomAD v4 |
| 11 | g.17645761C= | CA1955242293 | OTOG | c.8595C= (p.Cys2865=) c.8559C= (p.Cys2853=) | |
| 11 | g.17645761C>G | CA379791680 | OTOG | c.8595C>G (p.Cys2865Trp) c.8559C>G (p.Cys2853Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17645761C>T | CA473300846 | OTOG | c.8595C>T (p.Cys2865=) c.8559C>T (p.Cys2853=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17645762G>A | CA5906323 | OTOG | c.8596G>A (p.Asp2866Asn) c.8560G>A (p.Asp2854Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17645762G>C | CA379791686 | OTOG | c.8596G>C (p.Asp2866His) c.8560G>C (p.Asp2854His) | gnomAD v4 |
| 11 | g.17645762G= | CA1955242294 | OTOG | c.8596G= (p.Asp2866=) c.8560G= (p.Asp2854=) | |
| 11 | g.17645762G>T | CA379791687 | OTOG | c.8596G>T (p.Asp2866Tyr) c.8560G>T (p.Asp2854Tyr) | gnomAD v4 |
| 11 | g.17645763A>C | CA379791700 | OTOG | c.8597A>C (p.Asp2866Ala) c.8561A>C (p.Asp2854Ala) | |
| 11 | g.17645763A>G | CA379791693 | OTOG | c.8597A>G (p.Asp2866Gly) c.8561A>G (p.Asp2854Gly) | |
| 11 | g.17645763A>T | CA379791690 | OTOG | c.8597A>T (p.Asp2866Val) c.8561A>T (p.Asp2854Val) | dbSNP |
| 11 | g.17645764T>A | CA379791704 | OTOG | c.8598T>A (p.Asp2866Glu) c.8562T>A (p.Asp2854Glu) | |
| 11 | g.17645764T>C | CA473300849 | OTOG | c.8598T>C (p.Asp2866=) c.8562T>C (p.Asp2854=) | |
| 11 | g.17645764T>G | CA218458517 | OTOG | c.8598T>G (p.Asp2866Glu) c.8562T>G (p.Asp2854Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17645764T= | CA1955242295 | OTOG | c.8598T= (p.Asp2866=) c.8562T= (p.Asp2854=) | |
| 11 | g.17645765G>A | CA379791705 | OTOG | c.8599G>A (p.Gly2867Arg) c.8563G>A (p.Gly2855Arg) | |
| 11 | g.17645765G>C | CA379791719 | OTOG | c.8599G>C (p.Gly2867Arg) c.8563G>C (p.Gly2855Arg) | |
| 11 | g.17645765G>T | CA379791721 | OTOG | c.8599G>T (p.Gly2867Trp) c.8563G>T (p.Gly2855Trp) | gnomAD v4 |
| 11 | g.17645766G>A | CA218458520 | OTOG | c.8600G>A (p.Gly2867Glu) c.8564G>A (p.Gly2855Glu) | dbSNP |
| 11 | g.17645766G>C | CA379791727 | OTOG | c.8600G>C (p.Gly2867Ala) c.8564G>C (p.Gly2855Ala) | |
| 11 | g.17645766G= | CA1955242296 | OTOG | c.8600G= (p.Gly2867=) c.8564G= (p.Gly2855=) | |
| 11 | g.17645766G>T | CA379791735 | OTOG | c.8600G>T (p.Gly2867Val) c.8564G>T (p.Gly2855Val) | gnomAD v4 |
| 11 | g.17645767G>A | CA218458526 | OTOG | c.8601G>A (p.Gly2867=) c.8565G>A (p.Gly2855=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17645767G>C | CA473300856 | OTOG | c.8601G>C (p.Gly2867=) c.8565G>C (p.Gly2855=) | |
| 11 | g.17645767G= | CA1955242297 | OTOG | c.8601G= (p.Gly2867=) c.8565G= (p.Gly2855=) | |
| 11 | g.17645767G>T | CA473300857 | OTOG | c.8601G>T (p.Gly2867=) c.8565G>T (p.Gly2855=) | |
| 11 | g.17645768A>C | CA473300858 | OTOG | c.8602A>C (p.Arg2868=) c.8566A>C (p.Arg2856=) | |
| 11 | g.17645768A>G | CA379791750 | OTOG | c.8602A>G (p.Arg2868Gly) c.8566A>G (p.Arg2856Gly) | |
| 11 | g.17645768A>T | CA379791753 | OTOG | c.8602A>T (p.Arg2868Trp) c.8566A>T (p.Arg2856Trp) | |
| 11 | g.17645769G>A | CA218458531 | OTOG | c.8603G>A (p.Arg2868Lys) c.8567G>A (p.Arg2856Lys) | dbSNP gnomAD v4 |
| 11 | g.17645769G>C | CA379791759 | OTOG | c.8603G>C (p.Arg2868Thr) c.8567G>C (p.Arg2856Thr) | |
| 11 | g.17645769G= | CA1955242298 | OTOG | c.8603G= (p.Arg2868=) c.8567G= (p.Arg2856=) | |
| 11 | g.17645769G>T | CA379791764 | OTOG | c.8603G>T (p.Arg2868Met) c.8567G>T (p.Arg2856Met) | |
| 11 | g.17645770G>A | CA473300868 | OTOG | c.8604G>A (p.Arg2868=) c.8568G>A (p.Arg2856=) | dbSNP |
| 11 | g.17645770G>C | CA379791770 | OTOG | c.8604G>C (p.Arg2868Ser) c.8568G>C (p.Arg2856Ser) | |
| 11 | g.17645770G= | CA1955242299 | OTOG | c.8604G= (p.Arg2868=) c.8568G= (p.Arg2856=) | |
| 11 | g.17645770G>T | CA379791774 | OTOG | c.8604G>T (p.Arg2868Ser) c.8568G>T (p.Arg2856Ser) | |
| 11 | g.17645771T>A | CA379791779 | OTOG | c.8605T>A (p.Cys2869Ser) c.8569T>A (p.Cys2857Ser) | |
| 11 | g.17645771T>C | CA379791789 | OTOG | c.8605T>C (p.Cys2869Arg) c.8569T>C (p.Cys2857Arg) | |
| 11 | g.17645771T>G | CA379791792 | OTOG | c.8605T>G (p.Cys2869Gly) c.8569T>G (p.Cys2857Gly) | dbSNP |
| 11 | g.17645771T= | CA1955242300 | OTOG | c.8605T= (p.Cys2869=) c.8569T= (p.Cys2857=) | |
| 11 | g.17645772G>A | CA379791797 | OTOG | c.8606G>A (p.Cys2869Tyr) c.8570G>A (p.Cys2857Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.17645772G>C | CA379791803 | OTOG | c.8606G>C (p.Cys2869Ser) c.8570G>C (p.Cys2857Ser) | gnomAD v4 |
| 11 | g.17645772G= | CA1955242301 | OTOG | c.8606G= (p.Cys2869=) c.8570G= (p.Cys2857=) | |
| 11 | g.17645772G>T | CA379791807 | OTOG | c.8606G>T (p.Cys2869Phe) c.8570G>T (p.Cys2857Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17645773C>A | CA379791808 | OTOG | c.8607C>A (p.Cys2869Ter) c.8571C>A (p.Cys2857Ter) | dbSNP gnomAD v2 |
| 11 | g.17645773C= | CA1955242302 | OTOG | c.8607C= (p.Cys2869=) c.8571C= (p.Cys2857=) | |
| 11 | g.17645773C>G | CA379791809 | OTOG | c.8607C>G (p.Cys2869Trp) c.8571C>G (p.Cys2857Trp) | |
| 11 | g.17645773C>T | CA473300876 | OTOG | c.8607C>T (p.Cys2869=) c.8571C>T (p.Cys2857=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17645774C>A | CA379791814 | OTOG | c.8608C>A (p.Pro2870Thr) c.8572C>A (p.Pro2858Thr) | gnomAD v4 |
| 11 | g.17645774C= | CA1955242303 | OTOG | c.8608C= (p.Pro2870=) c.8572C= (p.Pro2858=) | |
| 11 | g.17645774C>G | CA379791817 | OTOG | c.8608C>G (p.Pro2870Ala) c.8572C>G (p.Pro2858Ala) | |
| 11 | g.17645774C>T | CA379791820 | OTOG | c.8608C>T (p.Pro2870Ser) c.8572C>T (p.Pro2858Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17645775C>A | CA379791833 | OTOG | c.8609C>A (p.Pro2870Gln) c.8573C>A (p.Pro2858Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17645775C= | CA1955242304 | OTOG | c.8609C= (p.Pro2870=) c.8573C= (p.Pro2858=) | |
| 11 | g.17645775C>G | CA379791830 | OTOG | c.8609C>G (p.Pro2870Arg) c.8573C>G (p.Pro2858Arg) | |
| 11 | g.17645775C>T | CA379791827 | OTOG | c.8609C>T (p.Pro2870Leu) c.8573C>T (p.Pro2858Leu) | |
| 11 | g.17645776A>C | CA473300883 | OTOG | c.8610A>C (p.Pro2870=) c.8574A>C (p.Pro2858=) | |
| 11 | g.17645776A>G | CA473300884 | OTOG | c.8610A>G (p.Pro2870=) c.8574A>G (p.Pro2858=) | |
| 11 | g.17645776A>T | CA473300885 | OTOG | c.8610A>T (p.Pro2870=) c.8574A>T (p.Pro2858=) | |
| 11 | g.17645777T>A | CA379791844 | OTOG | c.8611T>A (p.Ser2871Thr) c.8575T>A (p.Ser2859Thr) | |
| 11 | g.17645777T>C | CA218458534 | OTOG | c.8611T>C (p.Ser2871Pro) c.8575T>C (p.Ser2859Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.17645777T>G | CA379791850 | OTOG | c.8611T>G (p.Ser2871Ala) c.8575T>G (p.Ser2859Ala) | |
| 11 | g.17645777T= | CA1955242305 | OTOG | c.8611T= (p.Ser2871=) c.8575T= (p.Ser2859=) | |
| 11 | g.17645778C>A | CA379791862 | OTOG | c.8612C>A (p.Ser2871Tyr) c.8576C>A (p.Ser2859Tyr) | |
| 11 | g.17645778C>G | CA379791866 | OTOG | c.8612C>G (p.Ser2871Cys) c.8576C>G (p.Ser2859Cys) | |
| 11 | g.17645778C>T | CA379791864 | OTOG | c.8612C>T (p.Ser2871Phe) c.8576C>T (p.Ser2859Phe) | dbSNP gnomAD v4 |
| 11 | g.17645779C>A | CA473300891 | OTOG | c.8613C>A (p.Ser2871=) c.8577C>A (p.Ser2859=) | gnomAD v4 |
| 11 | g.17645779C= | CA1955242306 | OTOG | c.8613C= (p.Ser2871=) c.8577C= (p.Ser2859=) | |
| 11 | g.17645779C>G | CA473300892 | OTOG | c.8613C>G (p.Ser2871=) c.8577C>G (p.Ser2859=) | |
| 11 | g.17645779C>T | CA218458537 | OTOG | c.8613C>T (p.Ser2871=) c.8577C>T (p.Ser2859=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17645780G>A | CA379791869 | OTOG | c.8614G>A (p.Ala2872Thr) c.8578G>A (p.Ala2860Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17645780G>C | CA379791874 | OTOG | c.8614G>C (p.Ala2872Pro) c.8578G>C (p.Ala2860Pro) | |
| 11 | g.17645780G= | CA1955242307 | OTOG | c.8614G= (p.Ala2872=) c.8578G= (p.Ala2860=) | |
| 11 | g.17645780G>T | CA379791879 | OTOG | c.8614G>T (p.Ala2872Ser) c.8578G>T (p.Ala2860Ser) | |
| 11 | g.17645781C>A | CA379791883 | OTOG | c.8615C>A (p.Ala2872Asp) c.8579C>A (p.Ala2860Asp) | |
| 11 | g.17645781C= | CA1955242308 | OTOG | c.8615C= (p.Ala2872=) c.8579C= (p.Ala2860=) | |
| 11 | g.17645781C>G | CA379791886 | OTOG | c.8615C>G (p.Ala2872Gly) c.8579C>G (p.Ala2860Gly) | |
| 11 | g.17645781C>T | CA5906324 | OTOG | c.8615C>T (p.Ala2872Val) c.8579C>T (p.Ala2860Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17645782C>A | CA473300898 | OTOG | c.8616C>A (p.Ala2872=) c.8580C>A (p.Ala2860=) | |
| 11 | g.17645782C= | CA1955242309 | OTOG | c.8616C= (p.Ala2872=) c.8580C= (p.Ala2860=) | |
| 11 | g.17645782C>G | CA473300900 | OTOG | c.8616C>G (p.Ala2872=) c.8580C>G (p.Ala2860=) | |
| 11 | g.17645782C>T | CA473300901 | OTOG | c.8616C>T (p.Ala2872=) c.8580C>T (p.Ala2860=) | dbSNP gnomAD v4 |
| 11 | g.17645783A= | CA1955242310 | OTOG | c.8617A= (p.Ser2873=) c.8581A= (p.Ser2861=) | |
| 11 | g.17645783A>C | CA379791894 | OTOG | c.8617A>C (p.Ser2873Arg) c.8581A>C (p.Ser2861Arg) | |
| 11 | g.17645783A>G | CA379791898 | OTOG | c.8617A>G (p.Ser2873Gly) c.8581A>G (p.Ser2861Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.17645783A>T | CA379791900 | OTOG | c.8617A>T (p.Ser2873Cys) c.8581A>T (p.Ser2861Cys) | |
| 11 | g.17645784G>A | CA379791902 | OTOG | c.8618G>A (p.Ser2873Asn) c.8582G>A (p.Ser2861Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17645784G>C | CA379791905 | OTOG | c.8618G>C (p.Ser2873Thr) c.8582G>C (p.Ser2861Thr) | |
| 11 | g.17645784G= | CA1955242311 | OTOG | c.8618G= (p.Ser2873=) c.8582G= (p.Ser2861=) | |
| 11 | g.17645784G>T | CA379791908 | OTOG | c.8618G>T (p.Ser2873Ile) c.8582G>T (p.Ser2861Ile) | |
| 11 | g.17645785C>A | CA379791913 | OTOG | c.8619C>A (p.Ser2873Arg) c.8583C>A (p.Ser2861Arg) | |
| 11 | g.17645785C>G | CA379791916 | OTOG | c.8619C>G (p.Ser2873Arg) c.8583C>G (p.Ser2861Arg) | |
| 11 | g.17645785C>T | CA473300909 | OTOG | c.8619C>T (p.Ser2873=) c.8583C>T (p.Ser2861=) | |
| 11 | g.17645786A= | CA1955242312 | OTOG | c.8620A= (p.Ile2874=) c.8584A= (p.Ile2862=) | |
| 11 | g.17645786A>C | CA379791921 | OTOG | c.8620A>C (p.Ile2874Leu) c.8584A>C (p.Ile2862Leu) | |
| 11 | g.17645786A>G | CA379791926 | OTOG | c.8620A>G (p.Ile2874Val) c.8584A>G (p.Ile2862Val) | dbSNP gnomAD v4 |
| 11 | g.17645786A>T | CA379791932 | OTOG | c.8620A>T (p.Ile2874Phe) c.8584A>T (p.Ile2862Phe) | |
| 11 | g.17645787T>A | CA218458538 | OTOG | c.8621T>A (p.Ile2874Asn) c.8585T>A (p.Ile2862Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17645787T>C | CA379791939 | OTOG | c.8621T>C (p.Ile2874Thr) c.8585T>C (p.Ile2862Thr) | |
| 11 | g.17645787T>G | CA379791942 | OTOG | c.8621T>G (p.Ile2874Ser) c.8585T>G (p.Ile2862Ser) | |
| 11 | g.17645787T= | CA1955242313 | OTOG | c.8621T= (p.Ile2874=) c.8585T= (p.Ile2862=) | |
| 11 | g.17645787_17645793delinsTCTACAA | CA1955242314 | OTOG | c.8621_8627delinsTCTACAA (p.Ile2874=) c.8585_8591delinsTCTACAA (p.Ile2862=) | |
| 11 | g.17645788C>A | CA473300917 | OTOG | c.8622C>A (p.Ile2874=) c.8586C>A (p.Ile2862=) | |
| 11 | g.17645788C>G | CA379791945 | OTOG | c.8622C>G (p.Ile2874Met) c.8586C>G (p.Ile2862Met) | |
| 11 | g.17645788C>T | CA473300919 | OTOG | c.8622C>T (p.Ile2874=) c.8586C>T (p.Ile2862=) | gnomAD v4 |
| 11 | g.17645795_17645800del | CA674255707 | OTOG | c.8629_8634del (p.Tyr2877_Asn2878del) c.8593_8598del (p.Tyr2865_Asn2866del) | dbSNP |
| 11 | g.17645789T>A | CA379791948 | OTOG | c.8623T>A (p.Tyr2875Asn) c.8587T>A (p.Tyr2863Asn) | |
| 11 | g.17645789T>C | CA379791963 | OTOG | c.8623T>C (p.Tyr2875His) c.8587T>C (p.Tyr2863His) | |
| 11 | g.17645789T>G | CA379791970 | OTOG | c.8623T>G (p.Tyr2875Asp) c.8587T>G (p.Tyr2863Asp) | |
| 11 | g.17645790A= | CA1955242315 | OTOG | c.8624A= (p.Tyr2875=) c.8588A= (p.Tyr2863=) | |
| 11 | g.17645790A>C | CA379791980 | OTOG | c.8624A>C (p.Tyr2875Ser) c.8588A>C (p.Tyr2863Ser) | |
| 11 | g.17645790A>G | CA379791973 | OTOG | c.8624A>G (p.Tyr2875Cys) c.8588A>G (p.Tyr2863Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.17645790A>T | CA379791971 | OTOG | c.8624A>T (p.Tyr2875Phe) c.8588A>T (p.Tyr2863Phe) | dbSNP gnomAD v4 |
| 11 | g.17645791C>A | CA379791985 | OTOG | c.8625C>A (p.Tyr2875Ter) c.8589C>A (p.Tyr2863Ter) | |
| 11 | g.17645791C>G | CA379791988 | OTOG | c.8625C>G (p.Tyr2875Ter) c.8589C>G (p.Tyr2863Ter) | |
| 11 | g.17645791C>T | CA473300927 | OTOG | c.8625C>T (p.Tyr2875=) c.8589C>T (p.Tyr2863=) | |
| 11 | g.17645792A>C | CA379791992 | OTOG | c.8626A>C (p.Asn2876His) c.8590A>C (p.Asn2864His) | |
| 11 | g.17645792A>G | CA379791995 | OTOG | c.8626A>G (p.Asn2876Asp) c.8590A>G (p.Asn2864Asp) | |
| 11 | g.17645792A>T | CA379791999 | OTOG | c.8626A>T (p.Asn2876Tyr) c.8590A>T (p.Asn2864Tyr) | |
| 11 | g.17645793A>C | CA379792003 | OTOG | c.8627A>C (p.Asn2876Thr) c.8591A>C (p.Asn2864Thr) | |
| 11 | g.17645793A>G | CA379792006 | OTOG | c.8627A>G (p.Asn2876Ser) c.8591A>G (p.Asn2864Ser) | gnomAD v4 |
| 11 | g.17645793A>T | CA379792007 | OTOG | c.8627A>T (p.Asn2876Ile) c.8591A>T (p.Asn2864Ile) | |
| 11 | g.17645794C>A | CA379792008 | OTOG | c.8628C>A (p.Asn2876Lys) c.8592C>A (p.Asn2864Lys) | |
| 11 | g.17645794C= | CA1955242316 | OTOG | c.8628C= (p.Asn2876=) c.8592C= (p.Asn2864=) | |
| 11 | g.17645794C>G | CA379792009 | OTOG | c.8628C>G (p.Asn2876Lys) c.8592C>G (p.Asn2864Lys) | |
| 11 | g.17645794C>T | CA473300935 | OTOG | c.8628C>T (p.Asn2876=) c.8592C>T (p.Asn2864=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.17645795T>A | CA379792014 | OTOG | c.8629T>A (p.Tyr2877Asn) c.8593T>A (p.Tyr2865Asn) | |
| 11 | g.17645795T>C | CA379792017 | OTOG | c.8629T>C (p.Tyr2877His) c.8593T>C (p.Tyr2865His) | |
| 11 | g.17645795T>G | CA379792021 | OTOG | c.8629T>G (p.Tyr2877Asp) c.8593T>G (p.Tyr2865Asp) | |
| 11 | g.17645796A= | CA1955242317 | OTOG | c.8630A= (p.Tyr2877=) c.8594A= (p.Tyr2865=) | |
| 11 | g.17645796A>C | CA379792023 | OTOG | c.8630A>C (p.Tyr2877Ser) c.8594A>C (p.Tyr2865Ser) | |
| 11 | g.17645796A>G | CA379792030 | OTOG | c.8630A>G (p.Tyr2877Cys) c.8594A>G (p.Tyr2865Cys) | dbSNP |
| 11 | g.17645796A>T | CA379792026 | OTOG | c.8630A>T (p.Tyr2877Phe) c.8594A>T (p.Tyr2865Phe) | |
| 11 | g.17645797C>A | CA379792033 | OTOG | c.8631C>A (p.Tyr2877Ter) c.8595C>A (p.Tyr2865Ter) | |
| 11 | g.17645797C>G | CA379792048 | OTOG | c.8631C>G (p.Tyr2877Ter) c.8595C>G (p.Tyr2865Ter) | |
| 11 | g.17645797C>T | CA473300941 | OTOG | c.8631C>T (p.Tyr2877=) c.8595C>T (p.Tyr2865=) | |
| 11 | g.17645798A>C | CA379792049 | OTOG | c.8632A>C (p.Asn2878His) c.8596A>C (p.Asn2866His) | |
| 11 | g.17645798A>G | CA379792050 | OTOG | c.8632A>G (p.Asn2878Asp) c.8596A>G (p.Asn2866Asp) | gnomAD v4 |
| 11 | g.17645798A>T | CA379792055 | OTOG | c.8632A>T (p.Asn2878Tyr) c.8596A>T (p.Asn2866Tyr) | |
| 11 | g.17645799A= | CA1955242318 | OTOG | c.8633A= (p.Asn2878=) c.8597A= (p.Asn2866=) | |
| 11 | g.17645799A>C | CA379792059 | OTOG | c.8633A>C (p.Asn2878Thr) c.8597A>C (p.Asn2866Thr) | |
| 11 | g.17645799A>G | CA379792063 | OTOG | c.8633A>G (p.Asn2878Ser) c.8597A>G (p.Asn2866Ser) | dbSNP gnomAD v4 |
| 11 | g.17645799A>T | CA379792066 | OTOG | c.8633A>T (p.Asn2878Ile) c.8597A>T (p.Asn2866Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.17645800C>A | CA379792080 | OTOG | c.8634C>A (p.Asn2878Lys) c.8598C>A (p.Asn2866Lys) | |
| 11 | g.17645800C= | CA1955242319 | OTOG | c.8634C= (p.Asn2878=) c.8598C= (p.Asn2866=) | |
| 11 | g.17645800C>G | CA379792084 | OTOG | c.8634C>G (p.Asn2878Lys) c.8598C>G (p.Asn2866Lys) | |
| 11 | g.17645800C>T | CA473300952 | OTOG | c.8634C>T (p.Asn2878=) c.8598C>T (p.Asn2866=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17645801A>C | CA379792090 | OTOG | c.8635A>C (p.Ile2879Leu) c.8599A>C (p.Ile2867Leu) | |
| 11 | g.17645801A>G | CA379792095 | OTOG | c.8635A>G (p.Ile2879Val) c.8599A>G (p.Ile2867Val) | gnomAD v4 |
| 11 | g.17645801A>T | CA379792088 | OTOG | c.8635A>T (p.Ile2879Phe) c.8599A>T (p.Ile2867Phe) | |
| 11 | g.17645802T>A | CA379792108 | OTOG | c.8636T>A (p.Ile2879Asn) c.8600T>A (p.Ile2867Asn) | |
| 11 | g.17645802T>C | CA379792100 | OTOG | c.8636T>C (p.Ile2879Thr) c.8600T>C (p.Ile2867Thr) | |
| 11 | g.17645802T>G | CA379792104 | OTOG | c.8636T>G (p.Ile2879Ser) c.8600T>G (p.Ile2867Ser) | gnomAD v4 |
| 11 | g.17645803C>A | CA473301141 | OTOG | c.8637C>A (p.Ile2879=) c.8601C>A (p.Ile2867=) | |
| 11 | g.17645803C= | CA1955242320 | OTOG | c.8637C= (p.Ile2879=) c.8601C= (p.Ile2867=) | |
| 11 | g.17645803C>G | CA379792113 | OTOG | c.8637C>G (p.Ile2879Met) c.8601C>G (p.Ile2867Met) | |
| 11 | g.17645803C>T | CA473301145 | OTOG | c.8637C>T (p.Ile2879=) c.8601C>T (p.Ile2867=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.17645804A= | CA1955242321 | OTOG | c.8638A= (p.Asn2880=) c.8602A= (p.Asn2868=) | |
| 11 | g.17645804A>C | CA379792131 | OTOG | c.8638A>C (p.Asn2880His) c.8602A>C (p.Asn2868His) | |
| 11 | g.17645804A>G | CA379792134 | OTOG | c.8638A>G (p.Asn2880Asp) c.8602A>G (p.Asn2868Asp) | dbSNP gnomAD v4 |
| 11 | g.17645804A>T | CA379792138 | OTOG | c.8638A>T (p.Asn2880Tyr) c.8602A>T (p.Asn2868Tyr) | |
| 11 | g.17645805A>C | CA379792148 | OTOG | c.8639A>C (p.Asn2880Thr) c.8603A>C (p.Asn2868Thr) | |
| 11 | g.17645805A>G | CA379792141 | OTOG | c.8639A>G (p.Asn2880Ser) c.8603A>G (p.Asn2868Ser) | |
| 11 | g.17645805A>T | CA379792142 | OTOG | c.8639A>T (p.Asn2880Ile) c.8603A>T (p.Asn2868Ile) | |
| 11 | g.17645806C>A | CA379792151 | OTOG | c.8640C>A (p.Asn2880Lys) c.8604C>A (p.Asn2868Lys) | |
| 11 | g.17645806C= | CA1955242322 | OTOG | c.8640C= (p.Asn2880=) c.8604C= (p.Asn2868=) | |
| 11 | g.17645806C>G | CA379792156 | OTOG | c.8640C>G (p.Asn2880Lys) c.8604C>G (p.Asn2868Lys) | |
| 11 | g.17645806C>T | CA473301149 | OTOG | c.8640C>T (p.Asn2880=) c.8604C>T (p.Asn2868=) | dbSNP gnomAD v4 |
| 11 | g.17645807A= | CA1955242323 | OTOG | c.8641A= (p.Thr2881=) c.8605A= (p.Thr2869=) | |
| 11 | g.17645807A>C | CA379792161 | OTOG | c.8641A>C (p.Thr2881Pro) c.8605A>C (p.Thr2869Pro) | dbSNP |
| 11 | g.17645807A>G | CA379792163 | OTOG | c.8641A>G (p.Thr2881Ala) c.8605A>G (p.Thr2869Ala) | |
| 11 | g.17645807A>T | CA379792167 | OTOG | c.8641A>T (p.Thr2881Ser) c.8605A>T (p.Thr2869Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.17645808C>A | CA379792171 | OTOG | c.8642C>A (p.Thr2881Asn) c.8606C>A (p.Thr2869Asn) | gnomAD v4 |
| 11 | g.17645808C= | CA1955242324 | OTOG | c.8642C= (p.Thr2881=) c.8606C= (p.Thr2869=) | |
| 11 | g.17645808C>G | CA379792173 | OTOG | c.8642C>G (p.Thr2881Ser) c.8606C>G (p.Thr2869Ser) | |
| 11 | g.17645808C>T | CA218458539 | OTOG | c.8642C>T (p.Thr2881Ile) c.8606C>T (p.Thr2869Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.17645809C>A | CA473301154 | OTOG | c.8643C>A (p.Thr2881=) c.8607C>A (p.Thr2869=) | |
| 11 | g.17645809C= | CA1955242325 | OTOG | c.8643C= (p.Thr2881=) c.8607C= (p.Thr2869=) | |
| 11 | g.17645809C>G | CA473301155 | OTOG | c.8643C>G (p.Thr2881=) c.8607C>G (p.Thr2869=) | |
| 11 | g.17645809C>T | CA473301156 | OTOG | c.8643C>T (p.Thr2881=) c.8607C>T (p.Thr2869=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17645810T>A | CA379792178 | OTOG | c.8644T>A (p.Tyr2882Asn) c.8608T>A (p.Tyr2870Asn) | |
| 11 | g.17645810T>C | CA379792180 | OTOG | c.8644T>C (p.Tyr2882His) c.8608T>C (p.Tyr2870His) | |
| 11 | g.17645810T>G | CA379792183 | OTOG | c.8644T>G (p.Tyr2882Asp) c.8608T>G (p.Tyr2870Asp) | |
| 11 | g.17645811A>C | CA379792187 | OTOG | c.8645A>C (p.Tyr2882Ser) c.8609A>C (p.Tyr2870Ser) | |
| 11 | g.17645811A>G | CA379792188 | OTOG | c.8645A>G (p.Tyr2882Cys) c.8609A>G (p.Tyr2870Cys) | |
| 11 | g.17645811A>T | CA379792189 | OTOG | c.8645A>T (p.Tyr2882Phe) c.8609A>T (p.Tyr2870Phe) | |
| 11 | g.17645812T>A | CA379792192 | OTOG | c.8646T>A (p.Tyr2882Ter) c.8610T>A (p.Tyr2870Ter) | |
| 11 | g.17645812T>C | CA218458541 | OTOG | c.8646T>C (p.Tyr2882=) c.8610T>C (p.Tyr2870=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17645812T>G | CA379792194 | OTOG | c.8646T>G (p.Tyr2882Ter) c.8610T>G (p.Tyr2870Ter) | |
| 11 | g.17645812T= | CA1955242326 | OTOG | c.8646T= (p.Tyr2882=) c.8610T= (p.Tyr2870=) | |
| 11 | g.17645813G>A | CA379792198 | OTOG | c.8647G>A (p.Ala2883Thr) c.8611G>A (p.Ala2871Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17645813G>C | CA379792202 | OTOG | c.8647G>C (p.Ala2883Pro) c.8611G>C (p.Ala2871Pro) | |
| 11 | g.17645813G= | CA1955242327 | OTOG | c.8647G= (p.Ala2883=) c.8611G= (p.Ala2871=) | |
| 11 | g.17645813G>T | CA379792204 | OTOG | c.8647G>T (p.Ala2883Ser) c.8611G>T (p.Ala2871Ser) | |
| 11 | g.17645814C>A | CA379792213 | OTOG | c.8648C>A (p.Ala2883Asp) c.8612C>A (p.Ala2871Asp) | |
| 11 | g.17645814C= | CA1955242328 | OTOG | c.8648C= (p.Ala2883=) c.8612C= (p.Ala2871=) | |
| 11 | g.17645814C>G | CA379792210 | OTOG | c.8648C>G (p.Ala2883Gly) c.8612C>G (p.Ala2871Gly) | |
| 11 | g.17645814C>T | CA379792208 | OTOG | c.8648C>T (p.Ala2883Val) c.8612C>T (p.Ala2871Val) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.17645815C>A | CA473301161 | OTOG | c.8649C>A (p.Ala2883=) c.8613C>A (p.Ala2871=) | |
| 11 | g.17645815C>G | CA473301163 | OTOG | c.8649C>G (p.Ala2883=) c.8613C>G (p.Ala2871=) | |
| 11 | g.17645815C>T | CA473301164 | OTOG | c.8649C>T (p.Ala2883=) c.8613C>T (p.Ala2871=) | |
| 11 | g.17645816C>A | CA473301165 | OTOG | c.8650C>A (p.Arg2884=) c.8614C>A (p.Arg2872=) | gnomAD v4 |
| 11 | g.17645816C= | CA1955242329 | OTOG | c.8650C= (p.Arg2884=) c.8614C= (p.Arg2872=) | |
| 11 | g.17645816C>G | CA379792215 | OTOG | c.8650C>G (p.Arg2884Gly) c.8614C>G (p.Arg2872Gly) | gnomAD v4 |
| 11 | g.17645816C>T | CA218458543 | OTOG | c.8650C>T (p.Arg2884Ter) c.8614C>T (p.Arg2872Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17645816_17645817dup | CA2612692781 | OTOG | c.8650_8651dup (p.Phe2885AspfsTer?) c.8614_8615dup (p.Phe2873AspfsTer?) | gnomAD v4 |
| 11 | g.17645817G>A | CA379792223 | OTOG | c.8651G>A (p.Arg2884Gln) c.8615G>A (p.Arg2872Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17645817G>C | CA379792229 | OTOG | c.8651G>C (p.Arg2884Pro) c.8615G>C (p.Arg2872Pro) | dbSNP |
| 11 | g.17645817G= | CA1955242330 | OTOG | c.8651G= (p.Arg2884=) c.8615G= (p.Arg2872=) | |
| 11 | g.17645817G>T | CA379792233 | OTOG | c.8651G>T (p.Arg2884Leu) c.8615G>T (p.Arg2872Leu) | |
| 11 | g.17645818A>C | CA473301173 | OTOG | c.8652A>C (p.Arg2884=) c.8616A>C (p.Arg2872=) | |
| 11 | g.17645818A>G | CA473301172 | OTOG | c.8652A>G (p.Arg2884=) c.8616A>G (p.Arg2872=) | |
| 11 | g.17645818A>T | CA473301171 | OTOG | c.8652A>T (p.Arg2884=) c.8616A>T (p.Arg2872=) | |
| 11 | g.17645819T>A | CA379792234 | OTOG | c.8653T>A (p.Phe2885Ile) c.8617T>A (p.Phe2873Ile) | dbSNP |
| 11 | g.17645819T>C | CA379792235 | OTOG | c.8653T>C (p.Phe2885Leu) c.8617T>C (p.Phe2873Leu) | |
| 11 | g.17645819T>G | CA379792238 | OTOG | c.8653T>G (p.Phe2885Val) c.8617T>G (p.Phe2873Val) | |
| 11 | g.17645819T= | CA1955242331 | OTOG | c.8653T= (p.Phe2885=) c.8617T= (p.Phe2873=) | |
| 11 | g.17645820del | CA2790599129 | OTOG | c.8654del (p.Phe2885SerfsTer?) c.8618del (p.Phe2873SerfsTer?) | |
| 11 | g.17645820T>A | CA379792246 | OTOG | c.8654T>A (p.Phe2885Tyr) c.8618T>A (p.Phe2873Tyr) | |
| 11 | g.17645820T>C | CA379792250 | OTOG | c.8654T>C (p.Phe2885Ser) c.8618T>C (p.Phe2873Ser) | |
| 11 | g.17645820T>G | CA379792254 | OTOG | c.8654T>G (p.Phe2885Cys) c.8618T>G (p.Phe2873Cys) | |
| 11 | g.17645821C>A | CA379792259 | OTOG | c.8655C>A (p.Phe2885Leu) c.8619C>A (p.Phe2873Leu) | |
| 11 | g.17645821C= | CA1955242332 | OTOG | c.8655C= (p.Phe2885=) c.8619C= (p.Phe2873=) | |
| 11 | g.17645821C>G | CA379792264 | OTOG | c.8655C>G (p.Phe2885Leu) c.8619C>G (p.Phe2873Leu) | |
| 11 | g.17645821C>T | CA473301176 | OTOG | c.8655C>T (p.Phe2885=) c.8619C>T (p.Phe2873=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17645822T>A | CA379792281 | OTOG | c.8656T>A (p.Cys2886Ser) c.8620T>A (p.Cys2874Ser) | |
| 11 | g.17645822T>C | CA379792273 | OTOG | c.8656T>C (p.Cys2886Arg) c.8620T>C (p.Cys2874Arg) | |
| 11 | g.17645822T>G | CA379792277 | OTOG | c.8656T>G (p.Cys2886Gly) c.8620T>G (p.Cys2874Gly) | gnomAD v4 |
| 11 | g.17645823G>A | CA379792290 | OTOG | c.8657G>A (p.Cys2886Tyr) c.8621G>A (p.Cys2874Tyr) | dbSNP |
| 11 | g.17645823G>C | CA379792300 | OTOG | c.8657G>C (p.Cys2886Ser) c.8621G>C (p.Cys2874Ser) | |
| 11 | g.17645823G>T | CA379792306 | OTOG | c.8657G>T (p.Cys2886Phe) c.8621G>T (p.Cys2874Phe) | gnomAD v4 |
| 11 | g.17645824C>A | CA379792309 | OTOG | c.8658C>A (p.Cys2886Ter) c.8622C>A (p.Cys2874Ter) | |
| 11 | g.17645824C= | CA1955242333 | OTOG | c.8658C= (p.Cys2886=) c.8622C= (p.Cys2874=) | |
| 11 | g.17645824C>G | CA379792314 | OTOG | c.8658C>G (p.Cys2886Trp) c.8622C>G (p.Cys2874Trp) | |
| 11 | g.17645824C>T | CA218458545 | OTOG | c.8658C>T (p.Cys2886=) c.8622C>T (p.Cys2874=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17645825A>C | CA379792323 | OTOG | c.8659A>C (p.Lys2887Gln) c.8623A>C (p.Lys2875Gln) | |
| 11 | g.17645825A>G | CA379792328 | OTOG | c.8659A>G (p.Lys2887Glu) c.8623A>G (p.Lys2875Glu) | |
| 11 | g.17645825A>T | CA379792329 | OTOG | c.8659A>T (p.Lys2887Ter) c.8623A>T (p.Lys2875Ter) | |
| 11 | g.17645826A>C | CA379792336 | OTOG | c.8660A>C (p.Lys2887Thr) c.8624A>C (p.Lys2875Thr) | |
| 11 | g.17645826A>G | CA379792338 | OTOG | c.8660A>G (p.Lys2887Arg) c.8624A>G (p.Lys2875Arg) | |
| 11 | g.17645826A>T | CA379792343 | OTOG | c.8660A>T (p.Lys2887Met) c.8624A>T (p.Lys2875Met) | gnomAD v4 |
| 11 | g.17645827G>A | CA473301178 | OTOG | c.8661G>A (p.Lys2887=) c.8625G>A (p.Lys2875=) | |
| 11 | g.17645827G>C | CA379792344 | OTOG | c.8661G>C (p.Lys2887Asn) c.8625G>C (p.Lys2875Asn) | gnomAD v4 |
| 11 | g.17645827G>T | CA379792345 | OTOG | c.8661G>T (p.Lys2887Asn) c.8625G>T (p.Lys2875Asn) | |
| 11 | g.17645828T>A | CA379792354 | OTOG | c.8662T>A (p.Cys2888Ser) c.8626T>A (p.Cys2876Ser) | |
| 11 | g.17645828T>C | CA379792350 | OTOG | c.8662T>C (p.Cys2888Arg) c.8626T>C (p.Cys2876Arg) | |
| 11 | g.17645828T>G | CA379792348 | OTOG | c.8662T>G (p.Cys2888Gly) c.8626T>G (p.Cys2876Gly) | |
| 11 | g.17645829G>A | CA379792373 | OTOG | c.8663G>A (p.Cys2888Tyr) c.8627G>A (p.Cys2876Tyr) | |
| 11 | g.17645829G>C | CA379792359 | OTOG | c.8663G>C (p.Cys2888Ser) c.8627G>C (p.Cys2876Ser) | |
| 11 | g.17645829G>T | CA379792369 | OTOG | c.8663G>T (p.Cys2888Phe) c.8627G>T (p.Cys2876Phe) | |
| 11 | g.17645830C>A | CA379792378 | OTOG | c.8664C>A (p.Cys2888Ter) c.8628C>A (p.Cys2876Ter) | |
| 11 | g.17645830C>G | CA379792382 | OTOG | c.8664C>G (p.Cys2888Trp) c.8628C>G (p.Cys2876Trp) | |
| 11 | g.17645830C>T | CA473301179 | OTOG | c.8664C>T (p.Cys2888=) c.8628C>T (p.Cys2876=) | |
| 11 | g.17645831T>A | CA379792390 | OTOG | c.8665T>A (p.Cys2889Ser) c.8629T>A (p.Cys2877Ser) | |
| 11 | g.17645831T>C | CA379792394 | OTOG | c.8665T>C (p.Cys2889Arg) c.8629T>C (p.Cys2877Arg) | gnomAD v4 |
| 11 | g.17645831T>G | CA379792397 | OTOG | c.8665T>G (p.Cys2889Gly) c.8629T>G (p.Cys2877Gly) | |
| 11 | g.17645832G>A | CA379792403 | OTOG | c.8666G>A (p.Cys2889Tyr) c.8630G>A (p.Cys2877Tyr) | |
| 11 | g.17645832G>C | CA379792401 | OTOG | c.8666G>C (p.Cys2889Ser) c.8630G>C (p.Cys2877Ser) | gnomAD v4 |
| 11 | g.17645832G>T | CA379792402 | OTOG | c.8666G>T (p.Cys2889Phe) c.8630G>T (p.Cys2877Phe) | |
| 11 | g.17645833C>A | CA379792407 | OTOG | c.8667C>A (p.Cys2889Ter) c.8631C>A (p.Cys2877Ter) | |
| 11 | g.17645833C>G | CA379792411 | OTOG | c.8667C>G (p.Cys2889Trp) c.8631C>G (p.Cys2877Trp) | |
| 11 | g.17645833C>T | CA473301182 | OTOG | c.8667C>T (p.Cys2889=) c.8631C>T (p.Cys2877=) | COSMIC |
| 11 | g.17645834C>A | CA379792417 | OTOG | c.8668C>A (p.Arg2890Ser) c.8632C>A (p.Arg2878Ser) | gnomAD v4 |
| 11 | g.17645834C= | CA1955242334 | OTOG | c.8668C= (p.Arg2890=) c.8632C= (p.Arg2878=) | |
| 11 | g.17645834C>G | CA379792420 | OTOG | c.8668C>G (p.Arg2890Gly) c.8632C>G (p.Arg2878Gly) | gnomAD v4 |
| 11 | g.17645834C>T | CA379792425 | OTOG | c.8668C>T (p.Arg2890Cys) c.8632C>T (p.Arg2878Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17645835G>A | CA5906325 | OTOG | c.8669G>A (p.Arg2890His) c.8633G>A (p.Arg2878His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17645835G>C | CA379792432 | OTOG | c.8669G>C (p.Arg2890Pro) c.8633G>C (p.Arg2878Pro) | gnomAD v4 |
| 11 | g.17645835G= | CA1955242335 | OTOG | c.8669G= (p.Arg2890=) c.8633G= (p.Arg2878=) | |
| 11 | g.17645835G>T | CA379792448 | OTOG | c.8669G>T (p.Arg2890Leu) c.8633G>T (p.Arg2878Leu) | dbSNP COSMIC |
| 11 | g.17645836T>A | CA473301185 | OTOG | c.8670T>A (p.Arg2890=) c.8634T>A (p.Arg2878=) | |
| 11 | g.17645836T>C | CA473301186 | OTOG | c.8670T>C (p.Arg2890=) c.8634T>C (p.Arg2878=) | |
| 11 | g.17645836T>G | CA473301188 | OTOG | c.8670T>G (p.Arg2890=) c.8634T>G (p.Arg2878=) | |
| 11 | g.17645837G>A | CA379792459 | OTOG | c.8671G>A (p.Glu2891Lys) c.8635G>A (p.Glu2879Lys) | |
| 11 | g.17645837G>C | CA379792468 | OTOG | c.8671G>C (p.Glu2891Gln) c.8635G>C (p.Glu2879Gln) | |
| 11 | g.17645837G>T | CA379792472 | OTOG | c.8671G>T (p.Glu2891Ter) c.8635G>T (p.Glu2879Ter) | |
| 11 | g.17645838A>C | CA379792478 | OTOG | c.8672A>C (p.Glu2891Ala) c.8636A>C (p.Glu2879Ala) | |
| 11 | g.17645838A>G | CA379792480 | OTOG | c.8672A>G (p.Glu2891Gly) c.8636A>G (p.Glu2879Gly) | |
| 11 | g.17645838A>T | CA379792482 | OTOG | c.8672A>T (p.Glu2891Val) c.8636A>T (p.Glu2879Val) | |
| 11 | g.17645839G>A | CA473301191 | OTOG | c.8673G>A (p.Glu2891=) c.8637G>A (p.Glu2879=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.17645839G>C | CA379792496 | OTOG | c.8673G>C (p.Glu2891Asp) c.8637G>C (p.Glu2879Asp) | |
| 11 | g.17645839G= | CA1955242336 | OTOG | c.8673G= (p.Glu2891=) c.8637G= (p.Glu2879=) | |
| 11 | g.17645839G>T | CA379792486 | OTOG | c.8673G>T (p.Glu2891Asp) c.8637G>T (p.Glu2879Asp) | |
| 11 | g.17645840G>A | CA379792501 | OTOG | c.8674G>A (p.Val2892Met) c.8638G>A (p.Val2880Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17645840G>C | CA379792504 | OTOG | c.8674G>C (p.Val2892Leu) c.8638G>C (p.Val2880Leu) | |
| 11 | g.17645840G= | CA1955242337 | OTOG | c.8674G= (p.Val2892=) c.8638G= (p.Val2880=) | |
| 11 | g.17645840G>T | CA379792507 | OTOG | c.8674G>T (p.Val2892Leu) c.8638G>T (p.Val2880Leu) | |
| 11 | g.17645841T>A | CA379792510 | OTOG | c.8675T>A (p.Val2892Glu) c.8639T>A (p.Val2880Glu) | |
| 11 | g.17645841T>C | CA379792513 | OTOG | c.8675T>C (p.Val2892Ala) c.8639T>C (p.Val2880Ala) | |
| 11 | g.17645841T>G | CA379792518 | OTOG | c.8675T>G (p.Val2892Gly) c.8639T>G (p.Val2880Gly) | gnomAD v4 |
| 11 | g.17645842G>A | CA473301193 | OTOG | c.8676G>A (p.Val2892=) c.8640G>A (p.Val2880=) | |
| 11 | g.17645842G>C | CA473301194 | OTOG | c.8676G>C (p.Val2892=) c.8640G>C (p.Val2880=) | |
| 11 | g.17645842G>T | CA473301196 | OTOG | c.8676G>T (p.Val2892=) c.8640G>T (p.Val2880=) | gnomAD v4 |
| 11 | g.17645844del | CA2612692782 | OTOG | c.8678del (p.Gly2893AlafsTer?) c.8642del (p.Gly2881AlafsTer?) | gnomAD v4 |
| 11 | g.17645843G>A | CA379792519 | OTOG | c.8677G>A (p.Gly2893Ser) c.8641G>A (p.Gly2881Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17645843G>C | CA379792522 | OTOG | c.8677G>C (p.Gly2893Arg) c.8641G>C (p.Gly2881Arg) | |
| 11 | g.17645843G= | CA1955242338 | OTOG | c.8677G= (p.Gly2893=) c.8641G= (p.Gly2881=) | |
| 11 | g.17645843G>T | CA379792520 | OTOG | c.8677G>T (p.Gly2893Cys) c.8641G>T (p.Gly2881Cys) | |
| 11 | g.17645844G>A | CA379792525 | OTOG | c.8678G>A (p.Gly2893Asp) c.8642G>A (p.Gly2881Asp) | |
| 11 | g.17645844G>C | CA379792526 | OTOG | c.8678G>C (p.Gly2893Ala) c.8642G>C (p.Gly2881Ala) | |
| 11 | g.17645844G>T | CA379792528 | OTOG | c.8678G>T (p.Gly2893Val) c.8642G>T (p.Gly2881Val) | gnomAD v4 |
| 11 | g.17645845C>A | CA473301199 | OTOG | c.8679C>A (p.Gly2893=) c.8643C>A (p.Gly2881=) | gnomAD v4 |
| 11 | g.17645845C>G | CA473301202 | OTOG | c.8679C>G (p.Gly2893=) c.8643C>G (p.Gly2881=) | |
| 11 | g.17645845C>T | CA473301200 | OTOG | c.8679C>T (p.Gly2893=) c.8643C>T (p.Gly2881=) | |
| 11 | g.17645846C>A | CA379792538 | OTOG | c.8680C>A (p.Leu2894Met) c.8644C>A (p.Leu2882Met) | |
| 11 | g.17645846C= | CA1955242339 | OTOG | c.8680C= (p.Leu2894=) c.8644C= (p.Leu2882=) | |
| 11 | g.17645846C>G | CA379792540 | OTOG | c.8680C>G (p.Leu2894Val) c.8644C>G (p.Leu2882Val) | |
| 11 | g.17645846C>T | CA473301204 | OTOG | c.8680C>T (p.Leu2894=) c.8644C>T (p.Leu2882=) | dbSNP |
| 11 | g.17645847T>A | CA379792543 | OTOG | c.8681T>A (p.Leu2894Gln) c.8645T>A (p.Leu2882Gln) | |
| 11 | g.17645847T>C | CA379792544 | OTOG | c.8681T>C (p.Leu2894Pro) c.8645T>C (p.Leu2882Pro) | |
| 11 | g.17645847T>G | CA379792545 | OTOG | c.8681T>G (p.Leu2894Arg) c.8645T>G (p.Leu2882Arg) | dbSNP |
| 11 | g.17645847T= | CA1955242340 | OTOG | c.8681T= (p.Leu2894=) c.8645T= (p.Leu2882=) | |
| 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 |