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 |