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 |
|---|---|---|---|---|---|
| 2 | g.26464956C>A | CA346134550 | OTOF | c.4873G>T (p.Val1625Leu) c.2572G>T (p.Val858Leu) c.2632G>T (p.Val878Leu) c.2803G>T (p.Val935Leu) n.622G>T c.4858G>T (p.Val1620Leu) c.4918G>T (p.Val1640Leu) c.4813G>T (p.Val1605Leu) | |
| 2 | g.26464956C= | CA1239815977 | OTOF | c.4873G= (p.Val1625=) c.2572G= (p.Val858=) c.2632G= (p.Val878=) c.2803G= (p.Val935=) n.622G= c.4858G= (p.Val1620=) c.4918G= (p.Val1640=) c.4813G= (p.Val1605=) | |
| 2 | g.26464956C>G | CA346134551 | OTOF | c.4873G>C (p.Val1625Leu) c.2572G>C (p.Val858Leu) c.2632G>C (p.Val878Leu) c.2803G>C (p.Val935Leu) n.622G>C c.4858G>C (p.Val1620Leu) c.4918G>C (p.Val1640Leu) c.4813G>C (p.Val1605Leu) | |
| 2 | g.26464956C>T | CA342575 | OTOF | c.4873G>A (p.Val1625Met) c.2572G>A (p.Val858Met) c.2632G>A (p.Val878Met) c.2803G>A (p.Val935Met) n.622G>A c.4858G>A (p.Val1620Met) c.4918G>A (p.Val1640Met) c.4813G>A (p.Val1605Met) | ClinVar dbSNP |
| 2 | g.26464957T>A | CA346134552 | OTOF | c.4872A>T (p.Lys1624Asn) c.2571A>T (p.Lys857Asn) c.2631A>T (p.Lys877Asn) c.2802A>T (p.Lys934Asn) n.621A>T c.4857A>T (p.Lys1619Asn) c.4917A>T (p.Lys1639Asn) c.4812A>T (p.Lys1604Asn) | |
| 2 | g.26464957T>C | CA425207271 | OTOF | c.4872A>G (p.Lys1624=) c.2571A>G (p.Lys857=) c.2631A>G (p.Lys877=) c.2802A>G (p.Lys934=) n.621A>G c.4857A>G (p.Lys1619=) c.4917A>G (p.Lys1639=) c.4812A>G (p.Lys1604=) | |
| 2 | g.26464957T>G | CA346134553 | OTOF | c.4872A>C (p.Lys1624Asn) c.2571A>C (p.Lys857Asn) c.2631A>C (p.Lys877Asn) c.2802A>C (p.Lys934Asn) n.621A>C c.4857A>C (p.Lys1619Asn) c.4917A>C (p.Lys1639Asn) c.4812A>C (p.Lys1604Asn) | |
| 2 | g.26464958T>A | CA346134556 | OTOF | c.4871A>T (p.Lys1624Ile) c.2570A>T (p.Lys857Ile) c.2630A>T (p.Lys877Ile) c.2801A>T (p.Lys934Ile) n.620A>T c.4856A>T (p.Lys1619Ile) c.4916A>T (p.Lys1639Ile) c.4811A>T (p.Lys1604Ile) | |
| 2 | g.26464958T>C | CA346134554 | OTOF | c.4871A>G (p.Lys1624Arg) c.2570A>G (p.Lys857Arg) c.2630A>G (p.Lys877Arg) c.2801A>G (p.Lys934Arg) n.620A>G c.4856A>G (p.Lys1619Arg) c.4916A>G (p.Lys1639Arg) c.4811A>G (p.Lys1604Arg) | COSMIC COSMIC COSMIC |
| 2 | g.26464958T>G | CA346134555 | OTOF | c.4871A>C (p.Lys1624Thr) c.2570A>C (p.Lys857Thr) c.2630A>C (p.Lys877Thr) c.2801A>C (p.Lys934Thr) n.620A>C c.4856A>C (p.Lys1619Thr) c.4916A>C (p.Lys1639Thr) c.4811A>C (p.Lys1604Thr) | |
| 2 | g.26464959T>A | CA346134557 | OTOF | c.4870A>T (p.Lys1624Ter) c.2569A>T (p.Lys857Ter) c.2629A>T (p.Lys877Ter) c.2800A>T (p.Lys934Ter) n.619A>T c.4855A>T (p.Lys1619Ter) c.4915A>T (p.Lys1639Ter) c.4810A>T (p.Lys1604Ter) | |
| 2 | g.26464959T>C | CA1563010 | OTOF | c.4870A>G (p.Lys1624Glu) c.2569A>G (p.Lys857Glu) c.2629A>G (p.Lys877Glu) c.2800A>G (p.Lys934Glu) n.619A>G c.4855A>G (p.Lys1619Glu) c.4915A>G (p.Lys1639Glu) c.4810A>G (p.Lys1604Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26464959T>G | CA346134558 | OTOF | c.4870A>C (p.Lys1624Gln) c.2569A>C (p.Lys857Gln) c.2629A>C (p.Lys877Gln) c.2800A>C (p.Lys934Gln) n.619A>C c.4855A>C (p.Lys1619Gln) c.4915A>C (p.Lys1639Gln) c.4810A>C (p.Lys1604Gln) | |
| 2 | g.26464959T= | CA1239815982 | OTOF | c.4870A= (p.Lys1624=) c.2569A= (p.Lys857=) c.2629A= (p.Lys877=) c.2800A= (p.Lys934=) n.619A= c.4855A= (p.Lys1619=) c.4915A= (p.Lys1639=) c.4810A= (p.Lys1604=) | |
| 2 | g.26464960G>A | CA142903 | OTOF | c.4869C>T (p.Gly1623=) c.2568C>T (p.Gly856=) c.2628C>T (p.Gly876=) c.2799C>T (p.Gly933=) n.618C>T c.4854C>T (p.Gly1618=) c.4914C>T (p.Gly1638=) c.4809C>T (p.Gly1603=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26464960G>C | CA425207272 | OTOF | c.4869C>G (p.Gly1623=) c.2568C>G (p.Gly856=) c.2628C>G (p.Gly876=) c.2799C>G (p.Gly933=) n.618C>G c.4854C>G (p.Gly1618=) c.4914C>G (p.Gly1638=) c.4809C>G (p.Gly1603=) | |
| 2 | g.26464960G= | CA1239815986 | OTOF | c.4869C= (p.Gly1623=) c.2568C= (p.Gly856=) c.2628C= (p.Gly876=) c.2799C= (p.Gly933=) n.618C= c.4854C= (p.Gly1618=) c.4914C= (p.Gly1638=) c.4809C= (p.Gly1603=) | |
| 2 | g.26464960G>T | CA425207273 | OTOF | c.4869C>A (p.Gly1623=) c.2568C>A (p.Gly856=) c.2628C>A (p.Gly876=) c.2799C>A (p.Gly933=) n.618C>A c.4854C>A (p.Gly1618=) c.4914C>A (p.Gly1638=) c.4809C>A (p.Gly1603=) | |
| 2 | g.26464961C>A | CA346134559 | OTOF | c.4868G>T (p.Gly1623Val) c.2567G>T (p.Gly856Val) c.2627G>T (p.Gly876Val) c.2798G>T (p.Gly933Val) n.617G>T c.4853G>T (p.Gly1618Val) c.4913G>T (p.Gly1638Val) c.4808G>T (p.Gly1603Val) | gnomAD v4 |
| 2 | g.26464961C>G | CA346134560 | OTOF | c.4868G>C (p.Gly1623Ala) c.2567G>C (p.Gly856Ala) c.2627G>C (p.Gly876Ala) c.2798G>C (p.Gly933Ala) n.617G>C c.4853G>C (p.Gly1618Ala) c.4913G>C (p.Gly1638Ala) c.4808G>C (p.Gly1603Ala) | gnomAD v4 |
| 2 | g.26464961C>T | CA346134561 | OTOF | c.4868G>A (p.Gly1623Asp) c.2567G>A (p.Gly856Asp) c.2627G>A (p.Gly876Asp) c.2798G>A (p.Gly933Asp) n.617G>A c.4853G>A (p.Gly1618Asp) c.4913G>A (p.Gly1638Asp) c.4808G>A (p.Gly1603Asp) | gnomAD v4 |
| 2 | g.26464962C>A | CA346134562 | OTOF | c.4867G>T (p.Gly1623Cys) c.2566G>T (p.Gly856Cys) c.2626G>T (p.Gly876Cys) c.2797G>T (p.Gly933Cys) n.616G>T c.4852G>T (p.Gly1618Cys) c.4912G>T (p.Gly1638Cys) c.4807G>T (p.Gly1603Cys) | gnomAD v4 |
| 2 | g.26464962C= | CA1239815990 | OTOF | c.4867G= (p.Gly1623=) c.2566G= (p.Gly856=) c.2626G= (p.Gly876=) c.2797G= (p.Gly933=) n.616G= c.4852G= (p.Gly1618=) c.4912G= (p.Gly1638=) c.4807G= (p.Gly1603=) | |
| 2 | g.26464962C>G | CA346134563 | OTOF | c.4867G>C (p.Gly1623Arg) c.2566G>C (p.Gly856Arg) c.2626G>C (p.Gly876Arg) c.2797G>C (p.Gly933Arg) n.616G>C c.4852G>C (p.Gly1618Arg) c.4912G>C (p.Gly1638Arg) c.4807G>C (p.Gly1603Arg) | dbSNP gnomAD v4 |
| 2 | g.26464962C>T | CA1563011 | OTOF | c.4867G>A (p.Gly1623Ser) c.2566G>A (p.Gly856Ser) c.2626G>A (p.Gly876Ser) c.2797G>A (p.Gly933Ser) n.616G>A c.4852G>A (p.Gly1618Ser) c.4912G>A (p.Gly1638Ser) c.4807G>A (p.Gly1603Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26464963G>A | CA1563012 | OTOF | c.4866C>T (p.Asp1622=) c.2565C>T (p.Asp855=) c.2625C>T (p.Asp875=) c.2796C>T (p.Asp932=) n.615C>T c.4851C>T (p.Asp1617=) c.4911C>T (p.Asp1637=) c.4806C>T (p.Asp1602=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 2 | g.26464963G>C | CA346134564 | OTOF | c.4866C>G (p.Asp1622Glu) c.2565C>G (p.Asp855Glu) c.2625C>G (p.Asp875Glu) c.2796C>G (p.Asp932Glu) n.615C>G c.4851C>G (p.Asp1617Glu) c.4911C>G (p.Asp1637Glu) c.4806C>G (p.Asp1602Glu) | |
| 2 | g.26464963G= | CA1239815993 | OTOF | c.4866C= (p.Asp1622=) c.2565C= (p.Asp855=) c.2625C= (p.Asp875=) c.2796C= (p.Asp932=) n.615C= c.4851C= (p.Asp1617=) c.4911C= (p.Asp1637=) c.4806C= (p.Asp1602=) | |
| 2 | g.26464963G>T | CA346134565 | OTOF | c.4866C>A (p.Asp1622Glu) c.2565C>A (p.Asp855Glu) c.2625C>A (p.Asp875Glu) c.2796C>A (p.Asp932Glu) n.615C>A c.4851C>A (p.Asp1617Glu) c.4911C>A (p.Asp1637Glu) c.4806C>A (p.Asp1602Glu) | |
| 2 | g.26464964T>A | CA346134568 | OTOF | c.4865A>T (p.Asp1622Val) c.2564A>T (p.Asp855Val) c.2624A>T (p.Asp875Val) c.2795A>T (p.Asp932Val) n.614A>T c.4850A>T (p.Asp1617Val) c.4910A>T (p.Asp1637Val) c.4805A>T (p.Asp1602Val) | |
| 2 | g.26464964T>C | CA346134566 | OTOF | c.4865A>G (p.Asp1622Gly) c.2564A>G (p.Asp855Gly) c.2624A>G (p.Asp875Gly) c.2795A>G (p.Asp932Gly) n.614A>G c.4850A>G (p.Asp1617Gly) c.4910A>G (p.Asp1637Gly) c.4805A>G (p.Asp1602Gly) | |
| 2 | g.26464964T>G | CA346134567 | OTOF | c.4865A>C (p.Asp1622Ala) c.2564A>C (p.Asp855Ala) c.2624A>C (p.Asp875Ala) c.2795A>C (p.Asp932Ala) n.614A>C c.4850A>C (p.Asp1617Ala) c.4910A>C (p.Asp1637Ala) c.4805A>C (p.Asp1602Ala) | |
| 2 | g.26464965C>A | CA346134569 | OTOF | c.4864G>T (p.Asp1622Tyr) c.2563G>T (p.Asp855Tyr) c.2623G>T (p.Asp875Tyr) c.2794G>T (p.Asp932Tyr) n.613G>T c.4849G>T (p.Asp1617Tyr) c.4909G>T (p.Asp1637Tyr) c.4804G>T (p.Asp1602Tyr) | |
| 2 | g.26464965C= | CA1239815999 | OTOF | c.4864G= (p.Asp1622=) c.2563G= (p.Asp855=) c.2623G= (p.Asp875=) c.2794G= (p.Asp932=) n.613G= c.4849G= (p.Asp1617=) c.4909G= (p.Asp1637=) c.4804G= (p.Asp1602=) | |
| 2 | g.26464965C>G | CA346134570 | OTOF | c.4864G>C (p.Asp1622His) c.2563G>C (p.Asp855His) c.2623G>C (p.Asp875His) c.2794G>C (p.Asp932His) n.613G>C c.4849G>C (p.Asp1617His) c.4909G>C (p.Asp1637His) c.4804G>C (p.Asp1602His) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26464965C>T | CA346134571 | OTOF | c.4864G>A (p.Asp1622Asn) c.2563G>A (p.Asp855Asn) c.2623G>A (p.Asp875Asn) c.2794G>A (p.Asp932Asn) n.613G>A c.4849G>A (p.Asp1617Asn) c.4909G>A (p.Asp1637Asn) c.4804G>A (p.Asp1602Asn) | dbSNP gnomAD v4 |
| 2 | g.26464966T>A | CA346134572 | OTOF | c.4863A>T (p.Lys1621Asn) c.2562A>T (p.Lys854Asn) c.2622A>T (p.Lys874Asn) c.2793A>T (p.Lys931Asn) n.612A>T c.4848A>T (p.Lys1616Asn) c.4908A>T (p.Lys1636Asn) c.4803A>T (p.Lys1601Asn) | |
| 2 | g.26464966T>C | CA425207274 | OTOF | c.4863A>G (p.Lys1621=) c.2562A>G (p.Lys854=) c.2622A>G (p.Lys874=) c.2793A>G (p.Lys931=) n.612A>G c.4848A>G (p.Lys1616=) c.4908A>G (p.Lys1636=) c.4803A>G (p.Lys1601=) | |
| 2 | g.26464966T>G | CA346134573 | OTOF | c.4863A>C (p.Lys1621Asn) c.2562A>C (p.Lys854Asn) c.2622A>C (p.Lys874Asn) c.2793A>C (p.Lys931Asn) n.612A>C c.4848A>C (p.Lys1616Asn) c.4908A>C (p.Lys1636Asn) c.4803A>C (p.Lys1601Asn) | |
| 2 | g.26464967T>A | CA346134574 | OTOF | c.4862A>T (p.Lys1621Ile) c.2561A>T (p.Lys854Ile) c.2621A>T (p.Lys874Ile) c.2792A>T (p.Lys931Ile) n.611A>T c.4847A>T (p.Lys1616Ile) c.4907A>T (p.Lys1636Ile) c.4802A>T (p.Lys1601Ile) | |
| 2 | g.26464967T>C | CA346134575 | OTOF | c.4862A>G (p.Lys1621Arg) c.2561A>G (p.Lys854Arg) c.2621A>G (p.Lys874Arg) c.2792A>G (p.Lys931Arg) n.611A>G c.4847A>G (p.Lys1616Arg) c.4907A>G (p.Lys1636Arg) c.4802A>G (p.Lys1601Arg) | gnomAD v4 |
| 2 | g.26464967T>G | CA346134576 | OTOF | c.4862A>C (p.Lys1621Thr) c.2561A>C (p.Lys854Thr) c.2621A>C (p.Lys874Thr) c.2792A>C (p.Lys931Thr) n.611A>C c.4847A>C (p.Lys1616Thr) c.4907A>C (p.Lys1636Thr) c.4802A>C (p.Lys1601Thr) | |
| 2 | g.26464968T>A | CA346134577 | OTOF | c.4861A>T (p.Lys1621Ter) c.2560A>T (p.Lys854Ter) c.2620A>T (p.Lys874Ter) c.2791A>T (p.Lys931Ter) n.610A>T c.4846A>T (p.Lys1616Ter) c.4906A>T (p.Lys1636Ter) c.4801A>T (p.Lys1601Ter) | |
| 2 | g.26464968T>C | CA346134578 | OTOF | c.4861A>G (p.Lys1621Glu) c.2560A>G (p.Lys854Glu) c.2620A>G (p.Lys874Glu) c.2791A>G (p.Lys931Glu) n.610A>G c.4846A>G (p.Lys1616Glu) c.4906A>G (p.Lys1636Glu) c.4801A>G (p.Lys1601Glu) | |
| 2 | g.26464968T>G | CA346134579 | OTOF | c.4861A>C (p.Lys1621Gln) c.2560A>C (p.Lys854Gln) c.2620A>C (p.Lys874Gln) c.2791A>C (p.Lys931Gln) n.610A>C c.4846A>C (p.Lys1616Gln) c.4906A>C (p.Lys1636Gln) c.4801A>C (p.Lys1601Gln) | |
| 2 | g.26464969G>A | CA425207275 | OTOF | c.4860C>T (p.Cys1620=) c.2559C>T (p.Cys853=) c.2619C>T (p.Cys873=) c.2790C>T (p.Cys930=) n.609C>T c.4845C>T (p.Cys1615=) c.4905C>T (p.Cys1635=) c.4800C>T (p.Cys1600=) | gnomAD v4 |
| 2 | g.26464969G>C | CA346134580 | OTOF | c.4860C>G (p.Cys1620Trp) c.2559C>G (p.Cys853Trp) c.2619C>G (p.Cys873Trp) c.2790C>G (p.Cys930Trp) n.609C>G c.4845C>G (p.Cys1615Trp) c.4905C>G (p.Cys1635Trp) c.4800C>G (p.Cys1600Trp) | |
| 2 | g.26464969G>T | CA346134581 | OTOF | c.4860C>A (p.Cys1620Ter) c.2559C>A (p.Cys853Ter) c.2619C>A (p.Cys873Ter) c.2790C>A (p.Cys930Ter) n.609C>A c.4845C>A (p.Cys1615Ter) c.4905C>A (p.Cys1635Ter) c.4800C>A (p.Cys1600Ter) | |
| 2 | g.26464970C>A | CA346134584 | OTOF | c.4859G>T (p.Cys1620Phe) c.2558G>T (p.Cys853Phe) c.2618G>T (p.Cys873Phe) c.2789G>T (p.Cys930Phe) n.608G>T c.4844G>T (p.Cys1615Phe) c.4904G>T (p.Cys1635Phe) c.4799G>T (p.Cys1600Phe) | gnomAD v4 |
| 2 | g.26464970C>G | CA346134582 | OTOF | c.4859G>C (p.Cys1620Ser) c.2558G>C (p.Cys853Ser) c.2618G>C (p.Cys873Ser) c.2789G>C (p.Cys930Ser) n.608G>C c.4844G>C (p.Cys1615Ser) c.4904G>C (p.Cys1635Ser) c.4799G>C (p.Cys1600Ser) | |
| 2 | g.26464970C>T | CA346134583 | OTOF | c.4859G>A (p.Cys1620Tyr) c.2558G>A (p.Cys853Tyr) c.2618G>A (p.Cys873Tyr) c.2789G>A (p.Cys930Tyr) n.608G>A c.4844G>A (p.Cys1615Tyr) c.4904G>A (p.Cys1635Tyr) c.4799G>A (p.Cys1600Tyr) | gnomAD v4 |
| 2 | g.26464971A>C | CA346134585 | OTOF | c.4858T>G (p.Cys1620Gly) c.2557T>G (p.Cys853Gly) c.2617T>G (p.Cys873Gly) c.2788T>G (p.Cys930Gly) n.607T>G c.4843T>G (p.Cys1615Gly) c.4903T>G (p.Cys1635Gly) c.4798T>G (p.Cys1600Gly) | |
| 2 | g.26464971A>G | CA346134586 | OTOF | c.4858T>C (p.Cys1620Arg) c.2557T>C (p.Cys853Arg) c.2617T>C (p.Cys873Arg) c.2788T>C (p.Cys930Arg) n.607T>C c.4843T>C (p.Cys1615Arg) c.4903T>C (p.Cys1635Arg) c.4798T>C (p.Cys1600Arg) | gnomAD v4 |
| 2 | g.26464971A>T | CA346134587 | OTOF | c.4858T>A (p.Cys1620Ser) c.2557T>A (p.Cys853Ser) c.2617T>A (p.Cys873Ser) c.2788T>A (p.Cys930Ser) n.607T>A c.4843T>A (p.Cys1615Ser) c.4903T>A (p.Cys1635Ser) c.4798T>A (p.Cys1600Ser) | |
| 2 | g.26464972G>A | CA425207276 | OTOF | c.4857C>T (p.Leu1619=) c.2556C>T (p.Leu852=) c.2616C>T (p.Leu872=) c.2787C>T (p.Leu929=) n.606C>T c.4842C>T (p.Leu1614=) c.4902C>T (p.Leu1634=) c.4797C>T (p.Leu1599=) | |
| 2 | g.26464972G>C | CA425207278 | OTOF | c.4857C>G (p.Leu1619=) c.2556C>G (p.Leu852=) c.2616C>G (p.Leu872=) c.2787C>G (p.Leu929=) n.606C>G c.4842C>G (p.Leu1614=) c.4902C>G (p.Leu1634=) c.4797C>G (p.Leu1599=) | |
| 2 | g.26464972G>T | CA425207277 | OTOF | c.4857C>A (p.Leu1619=) c.2556C>A (p.Leu852=) c.2616C>A (p.Leu872=) c.2787C>A (p.Leu929=) n.606C>A c.4842C>A (p.Leu1614=) c.4902C>A (p.Leu1634=) c.4797C>A (p.Leu1599=) | |
| 2 | g.26464973A>C | CA346134588 | OTOF | c.4856T>G (p.Leu1619Arg) c.2555T>G (p.Leu852Arg) c.2615T>G (p.Leu872Arg) c.2786T>G (p.Leu929Arg) n.605T>G c.4841T>G (p.Leu1614Arg) c.4901T>G (p.Leu1634Arg) c.4796T>G (p.Leu1599Arg) | |
| 2 | g.26464973A>G | CA346134589 | OTOF | c.4856T>C (p.Leu1619Pro) c.2555T>C (p.Leu852Pro) c.2615T>C (p.Leu872Pro) c.2786T>C (p.Leu929Pro) n.605T>C c.4841T>C (p.Leu1614Pro) c.4901T>C (p.Leu1634Pro) c.4796T>C (p.Leu1599Pro) | gnomAD v4 |
| 2 | g.26464973A>T | CA346134590 | OTOF | c.4856T>A (p.Leu1619His) c.2555T>A (p.Leu852His) c.2615T>A (p.Leu872His) c.2786T>A (p.Leu929His) n.605T>A c.4841T>A (p.Leu1614His) c.4901T>A (p.Leu1634His) c.4796T>A (p.Leu1599His) | gnomAD v4 |
| 2 | g.26464974G>A | CA346134591 | OTOF | c.4855C>T (p.Leu1619Phe) c.2554C>T (p.Leu852Phe) c.2614C>T (p.Leu872Phe) c.2785C>T (p.Leu929Phe) n.604C>T c.4840C>T (p.Leu1614Phe) c.4900C>T (p.Leu1634Phe) c.4795C>T (p.Leu1599Phe) | gnomAD v4 |
| 2 | g.26464974G>C | CA346134592 | OTOF | c.4855C>G (p.Leu1619Val) c.2554C>G (p.Leu852Val) c.2614C>G (p.Leu872Val) c.2785C>G (p.Leu929Val) n.604C>G c.4840C>G (p.Leu1614Val) c.4900C>G (p.Leu1634Val) c.4795C>G (p.Leu1599Val) | |
| 2 | g.26464974G= | CA1239816000 | OTOF | c.4855C= (p.Leu1619=) c.2554C= (p.Leu852=) c.2614C= (p.Leu872=) c.2785C= (p.Leu929=) n.604C= c.4840C= (p.Leu1614=) c.4900C= (p.Leu1634=) c.4795C= (p.Leu1599=) | |
| 2 | g.26464974G>T | CA346134593 | OTOF | c.4855C>A (p.Leu1619Ile) c.2554C>A (p.Leu852Ile) c.2614C>A (p.Leu872Ile) c.2785C>A (p.Leu929Ile) n.604C>A c.4840C>A (p.Leu1614Ile) c.4900C>A (p.Leu1634Ile) c.4795C>A (p.Leu1599Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26464975G>A | CA425207279 | OTOF | c.4854C>T (p.Arg1618=) c.2553C>T (p.Arg851=) c.2613C>T (p.Arg871=) c.2784C>T (p.Arg928=) n.603C>T c.4839C>T (p.Arg1613=) c.4899C>T (p.Arg1633=) c.4794C>T (p.Arg1598=) | |
| 2 | g.26464975G>C | CA425207280 | OTOF | c.4854C>G (p.Arg1618=) c.2553C>G (p.Arg851=) c.2613C>G (p.Arg871=) c.2784C>G (p.Arg928=) n.603C>G c.4839C>G (p.Arg1613=) c.4899C>G (p.Arg1633=) c.4794C>G (p.Arg1598=) | |
| 2 | g.26464975G>T | CA425207281 | OTOF | c.4854C>A (p.Arg1618=) c.2553C>A (p.Arg851=) c.2613C>A (p.Arg871=) c.2784C>A (p.Arg928=) n.603C>A c.4839C>A (p.Arg1613=) c.4899C>A (p.Arg1633=) c.4794C>A (p.Arg1598=) | |
| 2 | g.26464976C>A | CA346134594 | OTOF | c.4853G>T (p.Arg1618Leu) c.2552G>T (p.Arg851Leu) c.2612G>T (p.Arg871Leu) c.2783G>T (p.Arg928Leu) n.602G>T c.4838G>T (p.Arg1613Leu) c.4898G>T (p.Arg1633Leu) c.4793G>T (p.Arg1598Leu) | gnomAD v4 |
| 2 | g.26464976C= | CA1239816003 | OTOF | c.4853G= (p.Arg1618=) c.2552G= (p.Arg851=) c.2612G= (p.Arg871=) c.2783G= (p.Arg928=) n.602G= c.4838G= (p.Arg1613=) c.4898G= (p.Arg1633=) c.4793G= (p.Arg1598=) | |
| 2 | g.26464976C>G | CA1563014 | OTOF | c.4853G>C (p.Arg1618Pro) c.2552G>C (p.Arg851Pro) c.2612G>C (p.Arg871Pro) c.2783G>C (p.Arg928Pro) n.602G>C c.4838G>C (p.Arg1613Pro) c.4898G>C (p.Arg1633Pro) c.4793G>C (p.Arg1598Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26464976C>T | CA1563013 | OTOF | c.4853G>A (p.Arg1618His) c.2552G>A (p.Arg851His) c.2612G>A (p.Arg871His) c.2783G>A (p.Arg928His) n.602G>A c.4838G>A (p.Arg1613His) c.4898G>A (p.Arg1633His) c.4793G>A (p.Arg1598His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26464977G>A | CA1563015 | OTOF | c.4852C>T (p.Arg1618Cys) c.2551C>T (p.Arg851Cys) c.2611C>T (p.Arg871Cys) c.2782C>T (p.Arg928Cys) n.601C>T c.4837C>T (p.Arg1613Cys) c.4897C>T (p.Arg1633Cys) c.4792C>T (p.Arg1598Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26464977G>C | CA346134596 | OTOF | c.4852C>G (p.Arg1618Gly) c.2551C>G (p.Arg851Gly) c.2611C>G (p.Arg871Gly) c.2782C>G (p.Arg928Gly) n.601C>G c.4837C>G (p.Arg1613Gly) c.4897C>G (p.Arg1633Gly) c.4792C>G (p.Arg1598Gly) | dbSNP |
| 2 | g.26464977G= | CA1239816009 | OTOF | c.4852C= (p.Arg1618=) c.2551C= (p.Arg851=) c.2611C= (p.Arg871=) c.2782C= (p.Arg928=) n.601C= c.4837C= (p.Arg1613=) c.4897C= (p.Arg1633=) c.4792C= (p.Arg1598=) | |
| 2 | g.26464977G>T | CA346134595 | OTOF | c.4852C>A (p.Arg1618Ser) c.2551C>A (p.Arg851Ser) c.2611C>A (p.Arg871Ser) c.2782C>A (p.Arg928Ser) n.601C>A c.4837C>A (p.Arg1613Ser) c.4897C>A (p.Arg1633Ser) c.4792C>A (p.Arg1598Ser) | |
| 2 | g.26464978G>A | CA1563016 | OTOF | c.4851C>T (p.Thr1617=) c.2550C>T (p.Thr850=) c.2610C>T (p.Thr870=) c.2781C>T (p.Thr927=) n.600C>T c.4836C>T (p.Thr1612=) c.4896C>T (p.Thr1632=) c.4791C>T (p.Thr1597=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26464978G>C | CA425207283 | OTOF | c.4851C>G (p.Thr1617=) c.2550C>G (p.Thr850=) c.2610C>G (p.Thr870=) c.2781C>G (p.Thr927=) n.600C>G c.4836C>G (p.Thr1612=) c.4896C>G (p.Thr1632=) c.4791C>G (p.Thr1597=) | |
| 2 | g.26464978G= | CA1239816012 | OTOF | c.4851C= (p.Thr1617=) c.2550C= (p.Thr850=) c.2610C= (p.Thr870=) c.2781C= (p.Thr927=) n.600C= c.4836C= (p.Thr1612=) c.4896C= (p.Thr1632=) c.4791C= (p.Thr1597=) | |
| 2 | g.26464978G>T | CA425207284 | OTOF | c.4851C>A (p.Thr1617=) c.2550C>A (p.Thr850=) c.2610C>A (p.Thr870=) c.2781C>A (p.Thr927=) n.600C>A c.4836C>A (p.Thr1612=) c.4896C>A (p.Thr1632=) c.4791C>A (p.Thr1597=) | gnomAD v4 |
| 2 | g.26464979G>A | CA346134599 | OTOF | c.4850C>T (p.Thr1617Ile) c.2549C>T (p.Thr850Ile) c.2609C>T (p.Thr870Ile) c.2780C>T (p.Thr927Ile) n.599C>T c.4835C>T (p.Thr1612Ile) c.4895C>T (p.Thr1632Ile) c.4790C>T (p.Thr1597Ile) | gnomAD v4 |
| 2 | g.26464979G>C | CA346134597 | OTOF | c.4850C>G (p.Thr1617Ser) c.2549C>G (p.Thr850Ser) c.2609C>G (p.Thr870Ser) c.2780C>G (p.Thr927Ser) n.599C>G c.4835C>G (p.Thr1612Ser) c.4895C>G (p.Thr1632Ser) c.4790C>G (p.Thr1597Ser) | |
| 2 | g.26464979G>T | CA346134598 | OTOF | c.4850C>A (p.Thr1617Asn) c.2549C>A (p.Thr850Asn) c.2609C>A (p.Thr870Asn) c.2780C>A (p.Thr927Asn) n.599C>A c.4835C>A (p.Thr1612Asn) c.4895C>A (p.Thr1632Asn) c.4790C>A (p.Thr1597Asn) | |
| 2 | g.26464979_26464982delinsGTCA | CA1239816017 | OTOF | c.4847_4850delinsTGAC (p.Leu1616=) c.2546_2549delinsTGAC (p.Leu849=) c.2606_2609delinsTGAC (p.Leu869=) c.2777_2780delinsTGAC (p.Leu926=) n.596_599delinsTGAC c.4832_4835delinsTGAC (p.Leu1611=) c.4892_4895delinsTGAC (p.Leu1631=) c.4787_4790delinsTGAC (p.Leu1596=) | |
| 2 | g.26464980T>A | CA346134600 | OTOF | c.4849A>T (p.Thr1617Ser) c.2548A>T (p.Thr850Ser) c.2608A>T (p.Thr870Ser) c.2779A>T (p.Thr927Ser) n.598A>T c.4834A>T (p.Thr1612Ser) c.4894A>T (p.Thr1632Ser) c.4789A>T (p.Thr1597Ser) | |
| 2 | g.26464980T>C | CA346134601 | OTOF | c.4849A>G (p.Thr1617Ala) c.2548A>G (p.Thr850Ala) c.2608A>G (p.Thr870Ala) c.2779A>G (p.Thr927Ala) n.598A>G c.4834A>G (p.Thr1612Ala) c.4894A>G (p.Thr1632Ala) c.4789A>G (p.Thr1597Ala) | gnomAD v4 |
| 2 | g.26464980T>G | CA346134602 | OTOF | c.4849A>C (p.Thr1617Pro) c.2548A>C (p.Thr850Pro) c.2608A>C (p.Thr870Pro) c.2779A>C (p.Thr927Pro) n.598A>C c.4834A>C (p.Thr1612Pro) c.4894A>C (p.Thr1632Pro) c.4789A>C (p.Thr1597Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26464980T= | CA1239816026 | OTOF | c.4849A= (p.Thr1617=) c.2548A= (p.Thr850=) c.2608A= (p.Thr870=) c.2779A= (p.Thr927=) n.598A= c.4834A= (p.Thr1612=) c.4894A= (p.Thr1632=) c.4789A= (p.Thr1597=) | |
| 2 | g.26464980_26464982del | CA44411541 | OTOF | c.4847_4849del (p.Leu1616_Thr1617delinsPro) c.2546_2548del (p.Leu849_Thr850delinsPro) c.2606_2608del (p.Leu869_Thr870delinsPro) c.2777_2779del (p.Leu926_Thr927delinsPro) n.596_598del c.4832_4834del (p.Leu1611_Thr1612delinsPro) c.4892_4894del (p.Leu1631_Thr1632delinsPro) c.4787_4789del (p.Leu1596_Thr1597delinsPro) | dbSNP |
| 2 | g.26464981C>A | CA425207285 | OTOF | c.4848G>T (p.Leu1616=) c.2547G>T (p.Leu849=) c.2607G>T (p.Leu869=) c.2778G>T (p.Leu926=) n.597G>T c.4833G>T (p.Leu1611=) c.4893G>T (p.Leu1631=) c.4788G>T (p.Leu1596=) | gnomAD v4 |
| 2 | g.26464981C>G | CA425207286 | OTOF | c.4848G>C (p.Leu1616=) c.2547G>C (p.Leu849=) c.2607G>C (p.Leu869=) c.2778G>C (p.Leu926=) n.597G>C c.4833G>C (p.Leu1611=) c.4893G>C (p.Leu1631=) c.4788G>C (p.Leu1596=) | |
| 2 | g.26464981C>T | CA425207287 | OTOF | c.4848G>A (p.Leu1616=) c.2547G>A (p.Leu849=) c.2607G>A (p.Leu869=) c.2778G>A (p.Leu926=) n.597G>A c.4833G>A (p.Leu1611=) c.4893G>A (p.Leu1631=) c.4788G>A (p.Leu1596=) | gnomAD v4 |
| 2 | g.26464981_26464983del | CA346134603 | OTOF | c.4846_4848del (p.Leu1616del) c.2545_2547del (p.Leu849del) c.2605_2607del (p.Leu869del) c.2776_2778del (p.Leu926del) n.595_597del c.4831_4833del (p.Leu1611del) c.4891_4893del (p.Leu1631del) c.4786_4788del (p.Leu1596del) | |
| 2 | g.26464982A>C | CA346134604 | OTOF | c.4847T>G (p.Leu1616Arg) c.2546T>G (p.Leu849Arg) c.2606T>G (p.Leu869Arg) c.2777T>G (p.Leu926Arg) n.596T>G c.4832T>G (p.Leu1611Arg) c.4892T>G (p.Leu1631Arg) c.4787T>G (p.Leu1596Arg) | |
| 2 | g.26464982A>G | CA346134605 | OTOF | c.4847T>C (p.Leu1616Pro) c.2546T>C (p.Leu849Pro) c.2606T>C (p.Leu869Pro) c.2777T>C (p.Leu926Pro) n.596T>C c.4832T>C (p.Leu1611Pro) c.4892T>C (p.Leu1631Pro) c.4787T>C (p.Leu1596Pro) | ClinVar gnomAD v4 |
| 2 | g.26464982A>T | CA346134606 | OTOF | c.4847T>A (p.Leu1616Gln) c.2546T>A (p.Leu849Gln) c.2606T>A (p.Leu869Gln) c.2777T>A (p.Leu926Gln) n.596T>A c.4832T>A (p.Leu1611Gln) c.4892T>A (p.Leu1631Gln) c.4787T>A (p.Leu1596Gln) | |
| 2 | g.26464983G>A | CA1563017 | OTOF | c.4846C>T (p.Leu1616=) c.2545C>T (p.Leu849=) c.2605C>T (p.Leu869=) c.2776C>T (p.Leu926=) n.595C>T c.4831C>T (p.Leu1611=) c.4891C>T (p.Leu1631=) c.4786C>T (p.Leu1596=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26464983G>C | CA346134607 | OTOF | c.4846C>G (p.Leu1616Val) c.2545C>G (p.Leu849Val) c.2605C>G (p.Leu869Val) c.2776C>G (p.Leu926Val) n.595C>G c.4831C>G (p.Leu1611Val) c.4891C>G (p.Leu1631Val) c.4786C>G (p.Leu1596Val) | |
| 2 | g.26464983G= | CA1239816035 | OTOF | c.4846C= (p.Leu1616=) c.2545C= (p.Leu849=) c.2605C= (p.Leu869=) c.2776C= (p.Leu926=) n.595C= c.4831C= (p.Leu1611=) c.4891C= (p.Leu1631=) c.4786C= (p.Leu1596=) | |
| 2 | g.26464983G>T | CA346134608 | OTOF | c.4846C>A (p.Leu1616Met) c.2545C>A (p.Leu849Met) c.2605C>A (p.Leu869Met) c.2776C>A (p.Leu926Met) n.595C>A c.4831C>A (p.Leu1611Met) c.4891C>A (p.Leu1631Met) c.4786C>A (p.Leu1596Met) | |
| 2 | g.26464984del | CA2658234012 | OTOF | c.4846del (p.Leu1616Ter) c.2545del (p.Leu849Ter) c.2605del (p.Leu869Ter) c.2776del (p.Leu926Ter) n.595del c.4831del (p.Leu1611Ter) c.4891del (p.Leu1631Ter) c.4786del (p.Leu1596Ter) | gnomAD v4 |
| 2 | g.26464984G>A | CA1563018 | OTOF | c.4845C>T (p.Ile1615=) c.2544C>T (p.Ile848=) c.2604C>T (p.Ile868=) c.2775C>T (p.Ile925=) n.594C>T c.4830C>T (p.Ile1610=) c.4890C>T (p.Ile1630=) c.4785C>T (p.Ile1595=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26464984G>C | CA346134609 | OTOF | c.4845C>G (p.Ile1615Met) c.2544C>G (p.Ile848Met) c.2604C>G (p.Ile868Met) c.2775C>G (p.Ile925Met) n.594C>G c.4830C>G (p.Ile1610Met) c.4890C>G (p.Ile1630Met) c.4785C>G (p.Ile1595Met) | |
| 2 | g.26464984G= | CA1239816038 | OTOF | c.4845C= (p.Ile1615=) c.2544C= (p.Ile848=) c.2604C= (p.Ile868=) c.2775C= (p.Ile925=) n.594C= c.4830C= (p.Ile1610=) c.4890C= (p.Ile1630=) c.4785C= (p.Ile1595=) | |
| 2 | g.26464984G>T | CA425207288 | OTOF | c.4845C>A (p.Ile1615=) c.2544C>A (p.Ile848=) c.2604C>A (p.Ile868=) c.2775C>A (p.Ile925=) n.594C>A c.4830C>A (p.Ile1610=) c.4890C>A (p.Ile1630=) c.4785C>A (p.Ile1595=) | gnomAD v4 |
| 2 | g.26464985A>C | CA346134610 | OTOF | c.4844T>G (p.Ile1615Ser) c.2543T>G (p.Ile848Ser) c.2603T>G (p.Ile868Ser) c.2774T>G (p.Ile925Ser) n.593T>G c.4829T>G (p.Ile1610Ser) c.4889T>G (p.Ile1630Ser) c.4784T>G (p.Ile1595Ser) | |
| 2 | g.26464985A>G | CA346134611 | OTOF | c.4844T>C (p.Ile1615Thr) c.2543T>C (p.Ile848Thr) c.2603T>C (p.Ile868Thr) c.2774T>C (p.Ile925Thr) n.593T>C c.4829T>C (p.Ile1610Thr) c.4889T>C (p.Ile1630Thr) c.4784T>C (p.Ile1595Thr) | gnomAD v4 |
| 2 | g.26464985A>T | CA346134612 | OTOF | c.4844T>A (p.Ile1615Asn) c.2543T>A (p.Ile848Asn) c.2603T>A (p.Ile868Asn) c.2774T>A (p.Ile925Asn) n.593T>A c.4829T>A (p.Ile1610Asn) c.4889T>A (p.Ile1630Asn) c.4784T>A (p.Ile1595Asn) | |
| 2 | g.26464986T>A | CA346134613 | OTOF | c.4843A>T (p.Ile1615Phe) c.2542A>T (p.Ile848Phe) c.2602A>T (p.Ile868Phe) c.2773A>T (p.Ile925Phe) n.592A>T c.4828A>T (p.Ile1610Phe) c.4888A>T (p.Ile1630Phe) c.4783A>T (p.Ile1595Phe) | |
| 2 | g.26464986T>C | CA346134614 | OTOF | c.4843A>G (p.Ile1615Val) c.2542A>G (p.Ile848Val) c.2602A>G (p.Ile868Val) c.2773A>G (p.Ile925Val) n.592A>G c.4828A>G (p.Ile1610Val) c.4888A>G (p.Ile1630Val) c.4783A>G (p.Ile1595Val) | |
| 2 | g.26464986T>G | CA346134615 | OTOF | c.4843A>C (p.Ile1615Leu) c.2542A>C (p.Ile848Leu) c.2602A>C (p.Ile868Leu) c.2773A>C (p.Ile925Leu) n.592A>C c.4828A>C (p.Ile1610Leu) c.4888A>C (p.Ile1630Leu) c.4783A>C (p.Ile1595Leu) | |
| 2 | g.26464987C>A | CA346134616 | OTOF | c.4842G>T (p.Gln1614His) c.2541G>T (p.Gln847His) c.2601G>T (p.Gln867His) c.2772G>T (p.Gln924His) n.591G>T c.4827G>T (p.Gln1609His) c.4887G>T (p.Gln1629His) c.4782G>T (p.Gln1594His) | |
| 2 | g.26464987C>G | CA346134617 | OTOF | c.4842G>C (p.Gln1614His) c.2541G>C (p.Gln847His) c.2601G>C (p.Gln867His) c.2772G>C (p.Gln924His) n.591G>C c.4827G>C (p.Gln1609His) c.4887G>C (p.Gln1629His) c.4782G>C (p.Gln1594His) | |
| 2 | g.26464987C>T | CA425207289 | OTOF | c.4842G>A (p.Gln1614=) c.2541G>A (p.Gln847=) c.2601G>A (p.Gln867=) c.2772G>A (p.Gln924=) n.591G>A c.4827G>A (p.Gln1609=) c.4887G>A (p.Gln1629=) c.4782G>A (p.Gln1594=) | gnomAD v4 |
| 2 | g.26464988T>A | CA346134618 | OTOF | c.4841A>T (p.Gln1614Leu) c.2540A>T (p.Gln847Leu) c.2600A>T (p.Gln867Leu) c.2771A>T (p.Gln924Leu) n.590A>T c.4826A>T (p.Gln1609Leu) c.4886A>T (p.Gln1629Leu) c.4781A>T (p.Gln1594Leu) | |
| 2 | g.26464988T>C | CA346134619 | OTOF | c.4841A>G (p.Gln1614Arg) c.2540A>G (p.Gln847Arg) c.2600A>G (p.Gln867Arg) c.2771A>G (p.Gln924Arg) n.590A>G c.4826A>G (p.Gln1609Arg) c.4886A>G (p.Gln1629Arg) c.4781A>G (p.Gln1594Arg) | |
| 2 | g.26464988T>G | CA346134620 | OTOF | c.4841A>C (p.Gln1614Pro) c.2540A>C (p.Gln847Pro) c.2600A>C (p.Gln867Pro) c.2771A>C (p.Gln924Pro) n.590A>C c.4826A>C (p.Gln1609Pro) c.4886A>C (p.Gln1629Pro) c.4781A>C (p.Gln1594Pro) | |
| 2 | g.26464989G>A | CA346134623 | OTOF | c.4840C>T (p.Gln1614Ter) c.2539C>T (p.Gln847Ter) c.2599C>T (p.Gln867Ter) c.2770C>T (p.Gln924Ter) n.589C>T c.4825C>T (p.Gln1609Ter) c.4885C>T (p.Gln1629Ter) c.4780C>T (p.Gln1594Ter) | gnomAD v4 |
| 2 | g.26464989G>C | CA346134622 | OTOF | c.4840C>G (p.Gln1614Glu) c.2539C>G (p.Gln847Glu) c.2599C>G (p.Gln867Glu) c.2770C>G (p.Gln924Glu) n.589C>G c.4825C>G (p.Gln1609Glu) c.4885C>G (p.Gln1629Glu) c.4780C>G (p.Gln1594Glu) | |
| 2 | g.26464989G>T | CA346134621 | OTOF | c.4840C>A (p.Gln1614Lys) c.2539C>A (p.Gln847Lys) c.2599C>A (p.Gln867Lys) c.2770C>A (p.Gln924Lys) n.589C>A c.4825C>A (p.Gln1609Lys) c.4885C>A (p.Gln1629Lys) c.4780C>A (p.Gln1594Lys) | |
| 2 | g.26464990G>A | CA425207291 | OTOF | c.4839C>T (p.Ser1613=) c.2538C>T (p.Ser846=) c.2598C>T (p.Ser866=) c.2769C>T (p.Ser923=) n.588C>T c.4824C>T (p.Ser1608=) c.4884C>T (p.Ser1628=) c.4779C>T (p.Ser1593=) | gnomAD v4 |
| 2 | g.26464990G>C | CA346134624 | OTOF | c.4839C>G (p.Ser1613Arg) c.2538C>G (p.Ser846Arg) c.2598C>G (p.Ser866Arg) c.2769C>G (p.Ser923Arg) n.588C>G c.4824C>G (p.Ser1608Arg) c.4884C>G (p.Ser1628Arg) c.4779C>G (p.Ser1593Arg) | |
| 2 | g.26464990G= | CA1239816041 | OTOF | c.4839C= (p.Ser1613=) c.2538C= (p.Ser846=) c.2598C= (p.Ser866=) c.2769C= (p.Ser923=) n.588C= c.4824C= (p.Ser1608=) c.4884C= (p.Ser1628=) c.4779C= (p.Ser1593=) | |
| 2 | g.26464990G>T | CA346134625 | OTOF | c.4839C>A (p.Ser1613Arg) c.2538C>A (p.Ser846Arg) c.2598C>A (p.Ser866Arg) c.2769C>A (p.Ser923Arg) n.588C>A c.4824C>A (p.Ser1608Arg) c.4884C>A (p.Ser1628Arg) c.4779C>A (p.Ser1593Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26464991C>A | CA346134626 | OTOF | c.4838G>T (p.Ser1613Ile) c.2537G>T (p.Ser846Ile) c.2597G>T (p.Ser866Ile) c.2768G>T (p.Ser923Ile) n.587G>T c.4823G>T (p.Ser1608Ile) c.4883G>T (p.Ser1628Ile) c.4778G>T (p.Ser1593Ile) | gnomAD v4 |
| 2 | g.26464991C>G | CA346134627 | OTOF | c.4838G>C (p.Ser1613Thr) c.2537G>C (p.Ser846Thr) c.2597G>C (p.Ser866Thr) c.2768G>C (p.Ser923Thr) n.587G>C c.4823G>C (p.Ser1608Thr) c.4883G>C (p.Ser1628Thr) c.4778G>C (p.Ser1593Thr) | |
| 2 | g.26464991C>T | CA346134628 | OTOF | c.4838G>A (p.Ser1613Asn) c.2537G>A (p.Ser846Asn) c.2597G>A (p.Ser866Asn) c.2768G>A (p.Ser923Asn) n.587G>A c.4823G>A (p.Ser1608Asn) c.4883G>A (p.Ser1628Asn) c.4778G>A (p.Ser1593Asn) | |
| 2 | g.26464991_26464992insGCTAAGCCAGTAGTTGCCAGACTTGACACCAACTGCATGATCCATAAAAAGAAAAACTGATGAAT | CA2740257655 | OTOF | c.4837_4838insATTCATCAGTTTTTCTTTTTATGGATCATGCAGTTGGTGTCAAGTCTGGCAACTACTGGCTTAGC (p.Ser1613AsnfsTer26) c.2536_2537insATTCATCAGTTTTTCTTTTTATGGATCATGCAGTTGGTGTCAAGTCTGGCAACTACTGGCTTAGC (p.Ser846AsnfsTer26) c.2596_2597insATTCATCAGTTTTTCTTTTTATGGATCATGCAGTTGGTGTCAAGTCTGGCAACTACTGGCTTAGC (p.Ser866AsnfsTer26) c.2767_2768insATTCATCAGTTTTTCTTTTTATGGATCATGCAGTTGGTGTCAAGTCTGGCAACTACTGGCTTAGC (p.Ser923AsnfsTer26) n.586_587insATTCATCAGTTTTTCTTTTTATGGATCATGCAGTTGGTGTCAAGTCTGGCAACTACTGGCTTAGC c.4822_4823insATTCATCAGTTTTTCTTTTTATGGATCATGCAGTTGGTGTCAAGTCTGGCAACTACTGGCTTAGC (p.Ser1608AsnfsTer26) c.4882_4883insATTCATCAGTTTTTCTTTTTATGGATCATGCAGTTGGTGTCAAGTCTGGCAACTACTGGCTTAGC (p.Ser1628AsnfsTer26) c.4777_4778insATTCATCAGTTTTTCTTTTTATGGATCATGCAGTTGGTGTCAAGTCTGGCAACTACTGGCTTAGC (p.Ser1593AsnfsTer26) | |
| 2 | g.26464992T>A | CA346134629 | OTOF | c.4837A>T (p.Ser1613Cys) c.2536A>T (p.Ser846Cys) c.2596A>T (p.Ser866Cys) c.2767A>T (p.Ser923Cys) n.586A>T c.4822A>T (p.Ser1608Cys) c.4882A>T (p.Ser1628Cys) c.4777A>T (p.Ser1593Cys) | |
| 2 | g.26464992T>C | CA346134630 | OTOF | c.4837A>G (p.Ser1613Gly) c.2536A>G (p.Ser846Gly) c.2596A>G (p.Ser866Gly) c.2767A>G (p.Ser923Gly) n.586A>G c.4822A>G (p.Ser1608Gly) c.4882A>G (p.Ser1628Gly) c.4777A>G (p.Ser1593Gly) | |
| 2 | g.26464992T>G | CA44411549 | OTOF | c.4837A>C (p.Ser1613Arg) c.2536A>C (p.Ser846Arg) c.2596A>C (p.Ser866Arg) c.2767A>C (p.Ser923Arg) n.586A>C c.4822A>C (p.Ser1608Arg) c.4882A>C (p.Ser1628Arg) c.4777A>C (p.Ser1593Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26464992T= | CA1239816044 | OTOF | c.4837A= (p.Ser1613=) c.2536A= (p.Ser846=) c.2596A= (p.Ser866=) c.2767A= (p.Ser923=) n.586A= c.4822A= (p.Ser1608=) c.4882A= (p.Ser1628=) c.4777A= (p.Ser1593=) | |
| 2 | g.26464992_26464994del | CA2749240382 | OTOF | c.4835_4837del (p.Pro1612_Ser1613delinsArg) c.2534_2536del (p.Pro845_Ser846delinsArg) c.2594_2596del (p.Pro865_Ser866delinsArg) c.2765_2767del (p.Pro922_Ser923delinsArg) n.584_586del c.4820_4822del (p.Pro1607_Ser1608delinsArg) c.4880_4882del (p.Pro1627_Ser1628delinsArg) c.4775_4777del (p.Pro1592_Ser1593delinsArg) | |
| 2 | g.26464993G>A | CA425207292 | OTOF | c.4836C>T (p.Pro1612=) c.2535C>T (p.Pro845=) c.2595C>T (p.Pro865=) c.2766C>T (p.Pro922=) n.585C>T c.4821C>T (p.Pro1607=) c.4881C>T (p.Pro1627=) c.4776C>T (p.Pro1592=) | ClinVar dbSNP gnomAD v2 |
| 2 | g.26464993G>C | CA425207293 | OTOF | c.4836C>G (p.Pro1612=) c.2535C>G (p.Pro845=) c.2595C>G (p.Pro865=) c.2766C>G (p.Pro922=) n.585C>G c.4821C>G (p.Pro1607=) c.4881C>G (p.Pro1627=) c.4776C>G (p.Pro1592=) | |
| 2 | g.26464993G= | CA1239816050 | OTOF | c.4836C= (p.Pro1612=) c.2535C= (p.Pro845=) c.2595C= (p.Pro865=) c.2766C= (p.Pro922=) n.585C= c.4821C= (p.Pro1607=) c.4881C= (p.Pro1627=) c.4776C= (p.Pro1592=) | |
| 2 | g.26464993G>T | CA425207294 | OTOF | c.4836C>A (p.Pro1612=) c.2535C>A (p.Pro845=) c.2595C>A (p.Pro865=) c.2766C>A (p.Pro922=) n.585C>A c.4821C>A (p.Pro1607=) c.4881C>A (p.Pro1627=) c.4776C>A (p.Pro1592=) | |
| 2 | g.26464994G>A | CA44411554 | OTOF | c.4835C>T (p.Pro1612Leu) c.2534C>T (p.Pro845Leu) c.2594C>T (p.Pro865Leu) c.2765C>T (p.Pro922Leu) n.584C>T c.4820C>T (p.Pro1607Leu) c.4880C>T (p.Pro1627Leu) c.4775C>T (p.Pro1592Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26464994G>C | CA346134631 | OTOF | c.4835C>G (p.Pro1612Arg) c.2534C>G (p.Pro845Arg) c.2594C>G (p.Pro865Arg) c.2765C>G (p.Pro922Arg) n.584C>G c.4820C>G (p.Pro1607Arg) c.4880C>G (p.Pro1627Arg) c.4775C>G (p.Pro1592Arg) | |
| 2 | g.26464994G= | CA1239816057 | OTOF | c.4835C= (p.Pro1612=) c.2534C= (p.Pro845=) c.2594C= (p.Pro865=) c.2765C= (p.Pro922=) n.584C= c.4820C= (p.Pro1607=) c.4880C= (p.Pro1627=) c.4775C= (p.Pro1592=) | |
| 2 | g.26464994G>T | CA346134632 | OTOF | c.4835C>A (p.Pro1612His) c.2534C>A (p.Pro845His) c.2594C>A (p.Pro865His) c.2765C>A (p.Pro922His) n.584C>A c.4820C>A (p.Pro1607His) c.4880C>A (p.Pro1627His) c.4775C>A (p.Pro1592His) | dbSNP |
| 2 | g.26464995G>A | CA1563019 | OTOF | c.4834C>T (p.Pro1612Ser) c.2533C>T (p.Pro845Ser) c.2593C>T (p.Pro865Ser) c.2764C>T (p.Pro922Ser) n.583C>T c.4819C>T (p.Pro1607Ser) c.4879C>T (p.Pro1627Ser) c.4774C>T (p.Pro1592Ser) | dbSNP ExAC gnomAD v2 |
| 2 | g.26464995G>C | CA346134633 | OTOF | c.4834C>G (p.Pro1612Ala) c.2533C>G (p.Pro845Ala) c.2593C>G (p.Pro865Ala) c.2764C>G (p.Pro922Ala) n.583C>G c.4819C>G (p.Pro1607Ala) c.4879C>G (p.Pro1627Ala) c.4774C>G (p.Pro1592Ala) | |
| 2 | g.26464995G= | CA1239816062 | OTOF | c.4834C= (p.Pro1612=) c.2533C= (p.Pro845=) c.2593C= (p.Pro865=) c.2764C= (p.Pro922=) n.583C= c.4819C= (p.Pro1607=) c.4879C= (p.Pro1627=) c.4774C= (p.Pro1592=) | |
| 2 | g.26464995G>T | CA346134634 | OTOF | c.4834C>A (p.Pro1612Thr) c.2533C>A (p.Pro845Thr) c.2593C>A (p.Pro865Thr) c.2764C>A (p.Pro922Thr) n.583C>A c.4819C>A (p.Pro1607Thr) c.4879C>A (p.Pro1627Thr) c.4774C>A (p.Pro1592Thr) | gnomAD v4 |
| 2 | g.26464996C>A | CA346134635 | OTOF | c.4833G>T (p.Lys1611Asn) c.2532G>T (p.Lys844Asn) c.2592G>T (p.Lys864Asn) c.2763G>T (p.Lys921Asn) n.582G>T c.4818G>T (p.Lys1606Asn) c.4878G>T (p.Lys1626Asn) c.4773G>T (p.Lys1591Asn) | gnomAD v4 |
| 2 | g.26464996C= | CA1239816067 | OTOF | c.4833G= (p.Lys1611=) c.2532G= (p.Lys844=) c.2592G= (p.Lys864=) c.2763G= (p.Lys921=) n.582G= c.4818G= (p.Lys1606=) c.4878G= (p.Lys1626=) c.4773G= (p.Lys1591=) | |
| 2 | g.26464996C>G | CA346134636 | OTOF | c.4833G>C (p.Lys1611Asn) c.2532G>C (p.Lys844Asn) c.2592G>C (p.Lys864Asn) c.2763G>C (p.Lys921Asn) n.582G>C c.4818G>C (p.Lys1606Asn) c.4878G>C (p.Lys1626Asn) c.4773G>C (p.Lys1591Asn) | |
| 2 | g.26464996C>T | CA44411565 | OTOF | c.4833G>A (p.Lys1611=) c.2532G>A (p.Lys844=) c.2592G>A (p.Lys864=) c.2763G>A (p.Lys921=) n.582G>A c.4818G>A (p.Lys1606=) c.4878G>A (p.Lys1626=) c.4773G>A (p.Lys1591=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26464997T>A | CA346134637 | OTOF | c.4832A>T (p.Lys1611Met) c.2531A>T (p.Lys844Met) c.2591A>T (p.Lys864Met) c.2762A>T (p.Lys921Met) n.581A>T c.4817A>T (p.Lys1606Met) c.4877A>T (p.Lys1626Met) c.4772A>T (p.Lys1591Met) | |
| 2 | g.26464997T>C | CA346134638 | OTOF | c.4832A>G (p.Lys1611Arg) c.2531A>G (p.Lys844Arg) c.2591A>G (p.Lys864Arg) c.2762A>G (p.Lys921Arg) n.581A>G c.4817A>G (p.Lys1606Arg) c.4877A>G (p.Lys1626Arg) c.4772A>G (p.Lys1591Arg) | |
| 2 | g.26464997T>G | CA346134639 | OTOF | c.4832A>C (p.Lys1611Thr) c.2531A>C (p.Lys844Thr) c.2591A>C (p.Lys864Thr) c.2762A>C (p.Lys921Thr) n.581A>C c.4817A>C (p.Lys1606Thr) c.4877A>C (p.Lys1626Thr) c.4772A>C (p.Lys1591Thr) | |
| 2 | g.26464998T>A | CA346134640 | OTOF | c.4831A>T (p.Lys1611Ter) c.2530A>T (p.Lys844Ter) c.2590A>T (p.Lys864Ter) c.2761A>T (p.Lys921Ter) n.580A>T c.4816A>T (p.Lys1606Ter) c.4876A>T (p.Lys1626Ter) c.4771A>T (p.Lys1591Ter) | |
| 2 | g.26464998T>C | CA346134641 | OTOF | c.4831A>G (p.Lys1611Glu) c.2530A>G (p.Lys844Glu) c.2590A>G (p.Lys864Glu) c.2761A>G (p.Lys921Glu) n.580A>G c.4816A>G (p.Lys1606Glu) c.4876A>G (p.Lys1626Glu) c.4771A>G (p.Lys1591Glu) | |
| 2 | g.26464998T>G | CA346134642 | OTOF | c.4831A>C (p.Lys1611Gln) c.2530A>C (p.Lys844Gln) c.2590A>C (p.Lys864Gln) c.2761A>C (p.Lys921Gln) n.580A>C c.4816A>C (p.Lys1606Gln) c.4876A>C (p.Lys1626Gln) c.4771A>C (p.Lys1591Gln) | |
| 2 | g.26464999C>A | CA346134643 | OTOF | c.4830G>T (p.Met1610Ile) c.2529G>T (p.Met843Ile) c.2589G>T (p.Met863Ile) c.2760G>T (p.Met920Ile) n.579G>T c.4815G>T (p.Met1605Ile) c.4875G>T (p.Met1625Ile) c.4770G>T (p.Met1590Ile) | |
| 2 | g.26464999C>G | CA346134644 | OTOF | c.4830G>C (p.Met1610Ile) c.2529G>C (p.Met843Ile) c.2589G>C (p.Met863Ile) c.2760G>C (p.Met920Ile) n.579G>C c.4815G>C (p.Met1605Ile) c.4875G>C (p.Met1625Ile) c.4770G>C (p.Met1590Ile) | |
| 2 | g.26464999C>T | CA346134645 | OTOF | c.4830G>A (p.Met1610Ile) c.2529G>A (p.Met843Ile) c.2589G>A (p.Met863Ile) c.2760G>A (p.Met920Ile) n.579G>A c.4815G>A (p.Met1605Ile) c.4875G>A (p.Met1625Ile) c.4770G>A (p.Met1590Ile) | |
| 2 | g.26465000A>C | CA346134646 | OTOF | c.4829T>G (p.Met1610Arg) c.2528T>G (p.Met843Arg) c.2588T>G (p.Met863Arg) c.2759T>G (p.Met920Arg) n.578T>G c.4814T>G (p.Met1605Arg) c.4874T>G (p.Met1625Arg) c.4769T>G (p.Met1590Arg) | |
| 2 | g.26465000A>G | CA346134647 | OTOF | c.4829T>C (p.Met1610Thr) c.2528T>C (p.Met843Thr) c.2588T>C (p.Met863Thr) c.2759T>C (p.Met920Thr) n.578T>C c.4814T>C (p.Met1605Thr) c.4874T>C (p.Met1625Thr) c.4769T>C (p.Met1590Thr) | gnomAD v4 |
| 2 | g.26465000A>T | CA346134648 | OTOF | c.4829T>A (p.Met1610Lys) c.2528T>A (p.Met843Lys) c.2588T>A (p.Met863Lys) c.2759T>A (p.Met920Lys) n.578T>A c.4814T>A (p.Met1605Lys) c.4874T>A (p.Met1625Lys) c.4769T>A (p.Met1590Lys) | |
| 2 | g.26465001T>A | CA346134651 | OTOF | c.4828A>T (p.Met1610Leu) c.2527A>T (p.Met843Leu) c.2587A>T (p.Met863Leu) c.2758A>T (p.Met920Leu) n.577A>T c.4813A>T (p.Met1605Leu) c.4873A>T (p.Met1625Leu) c.4768A>T (p.Met1590Leu) | |
| 2 | g.26465001T>C | CA346134650 | OTOF | c.4828A>G (p.Met1610Val) c.2527A>G (p.Met843Val) c.2587A>G (p.Met863Val) c.2758A>G (p.Met920Val) n.577A>G c.4813A>G (p.Met1605Val) c.4873A>G (p.Met1625Val) c.4768A>G (p.Met1590Val) | |
| 2 | g.26465001T>G | CA346134649 | OTOF | c.4828A>C (p.Met1610Leu) c.2527A>C (p.Met843Leu) c.2587A>C (p.Met863Leu) c.2758A>C (p.Met920Leu) n.577A>C c.4813A>C (p.Met1605Leu) c.4873A>C (p.Met1625Leu) c.4768A>C (p.Met1590Leu) | |
| 2 | g.26465002G>A | CA425207295 | OTOF | c.4827C>T (p.Pro1609=) c.2526C>T (p.Pro842=) c.2586C>T (p.Pro862=) c.2757C>T (p.Pro919=) n.576C>T c.4812C>T (p.Pro1604=) c.4872C>T (p.Pro1624=) c.4767C>T (p.Pro1589=) | |
| 2 | g.26465002G>C | CA425207296 | OTOF | c.4827C>G (p.Pro1609=) c.2526C>G (p.Pro842=) c.2586C>G (p.Pro862=) c.2757C>G (p.Pro919=) n.576C>G c.4812C>G (p.Pro1604=) c.4872C>G (p.Pro1624=) c.4767C>G (p.Pro1589=) | |
| 2 | g.26465002G>T | CA425207297 | OTOF | c.4827C>A (p.Pro1609=) c.2526C>A (p.Pro842=) c.2586C>A (p.Pro862=) c.2757C>A (p.Pro919=) n.576C>A c.4812C>A (p.Pro1604=) c.4872C>A (p.Pro1624=) c.4767C>A (p.Pro1589=) | gnomAD v4 |
| 2 | g.26465003G>A | CA346134653 | OTOF | c.4826C>T (p.Pro1609Leu) c.2525C>T (p.Pro842Leu) c.2585C>T (p.Pro862Leu) c.2756C>T (p.Pro919Leu) n.575C>T c.4811C>T (p.Pro1604Leu) c.4871C>T (p.Pro1624Leu) c.4766C>T (p.Pro1589Leu) | |
| 2 | g.26465003G>C | CA346134652 | OTOF | c.4826C>G (p.Pro1609Arg) c.2525C>G (p.Pro842Arg) c.2585C>G (p.Pro862Arg) c.2756C>G (p.Pro919Arg) n.575C>G c.4811C>G (p.Pro1604Arg) c.4871C>G (p.Pro1624Arg) c.4766C>G (p.Pro1589Arg) | |
| 2 | g.26465003G>T | CA346134654 | OTOF | c.4826C>A (p.Pro1609His) c.2525C>A (p.Pro842His) c.2585C>A (p.Pro862His) c.2756C>A (p.Pro919His) n.575C>A c.4811C>A (p.Pro1604His) c.4871C>A (p.Pro1624His) c.4766C>A (p.Pro1589His) | |
| 2 | g.26465004G>A | CA346134655 | OTOF | c.4825C>T (p.Pro1609Ser) c.2524C>T (p.Pro842Ser) c.2584C>T (p.Pro862Ser) c.2755C>T (p.Pro919Ser) n.574C>T c.4810C>T (p.Pro1604Ser) c.4870C>T (p.Pro1624Ser) c.4765C>T (p.Pro1589Ser) | |
| 2 | g.26465004G>C | CA346134657 | OTOF | c.4825C>G (p.Pro1609Ala) c.2524C>G (p.Pro842Ala) c.2584C>G (p.Pro862Ala) c.2755C>G (p.Pro919Ala) n.574C>G c.4810C>G (p.Pro1604Ala) c.4870C>G (p.Pro1624Ala) c.4765C>G (p.Pro1589Ala) | |
| 2 | g.26465004G>T | CA346134656 | OTOF | c.4825C>A (p.Pro1609Thr) c.2524C>A (p.Pro842Thr) c.2584C>A (p.Pro862Thr) c.2755C>A (p.Pro919Thr) n.574C>A c.4810C>A (p.Pro1604Thr) c.4870C>A (p.Pro1624Thr) c.4765C>A (p.Pro1589Thr) | |
| 2 | g.26465005G>A | CA425207298 | OTOF | c.4824C>T (p.Asp1608=) c.2523C>T (p.Asp841=) c.2583C>T (p.Asp861=) c.2754C>T (p.Asp918=) n.573C>T c.4809C>T (p.Asp1603=) c.4869C>T (p.Asp1623=) c.4764C>T (p.Asp1588=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26465005G>C | CA346134658 | OTOF | c.4824C>G (p.Asp1608Glu) c.2523C>G (p.Asp841Glu) c.2583C>G (p.Asp861Glu) c.2754C>G (p.Asp918Glu) n.573C>G c.4809C>G (p.Asp1603Glu) c.4869C>G (p.Asp1623Glu) c.4764C>G (p.Asp1588Glu) | |
| 2 | g.26465005G= | CA1239816071 | OTOF | c.4824C= (p.Asp1608=) c.2523C= (p.Asp841=) c.2583C= (p.Asp861=) c.2754C= (p.Asp918=) n.573C= c.4809C= (p.Asp1603=) c.4869C= (p.Asp1623=) c.4764C= (p.Asp1588=) | |
| 2 | g.26465005G>T | CA346134659 | OTOF | c.4824C>A (p.Asp1608Glu) c.2523C>A (p.Asp841Glu) c.2583C>A (p.Asp861Glu) c.2754C>A (p.Asp918Glu) n.573C>A c.4809C>A (p.Asp1603Glu) c.4869C>A (p.Asp1623Glu) c.4764C>A (p.Asp1588Glu) | gnomAD v4 |
| 2 | g.26465006T>A | CA346134660 | OTOF | c.4823A>T (p.Asp1608Val) c.2522A>T (p.Asp841Val) c.2582A>T (p.Asp861Val) c.2753A>T (p.Asp918Val) n.572A>T c.4808A>T (p.Asp1603Val) c.4868A>T (p.Asp1623Val) c.4763A>T (p.Asp1588Val) | |
| 2 | g.26465006T>C | CA346134661 | OTOF | c.4823A>G (p.Asp1608Gly) c.2522A>G (p.Asp841Gly) c.2582A>G (p.Asp861Gly) c.2753A>G (p.Asp918Gly) n.572A>G c.4808A>G (p.Asp1603Gly) c.4868A>G (p.Asp1623Gly) c.4763A>G (p.Asp1588Gly) | dbSNP gnomAD v4 |
| 2 | g.26465006T>G | CA346134662 | OTOF | c.4823A>C (p.Asp1608Ala) c.2522A>C (p.Asp841Ala) c.2582A>C (p.Asp861Ala) c.2753A>C (p.Asp918Ala) n.572A>C c.4808A>C (p.Asp1603Ala) c.4868A>C (p.Asp1623Ala) c.4763A>C (p.Asp1588Ala) | gnomAD v4 |
| 2 | g.26465006T= | CA1239816074 | OTOF | c.4823A= (p.Asp1608=) c.2522A= (p.Asp841=) c.2582A= (p.Asp861=) c.2753A= (p.Asp918=) n.572A= c.4808A= (p.Asp1603=) c.4868A= (p.Asp1623=) c.4763A= (p.Asp1588=) | |
| 2 | g.26465007C>A | CA142901 | OTOF | c.4822G>T (p.Asp1608Tyr) c.2521G>T (p.Asp841Tyr) c.2581G>T (p.Asp861Tyr) c.2752G>T (p.Asp918Tyr) n.571G>T c.4807G>T (p.Asp1603Tyr) c.4867G>T (p.Asp1623Tyr) c.4762G>T (p.Asp1588Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26465007C= | CA1239816080 | OTOF | c.4822G= (p.Asp1608=) c.2521G= (p.Asp841=) c.2581G= (p.Asp861=) c.2752G= (p.Asp918=) n.571G= c.4807G= (p.Asp1603=) c.4867G= (p.Asp1623=) c.4762G= (p.Asp1588=) | |
| 2 | g.26465007C>G | CA346134663 | OTOF | c.4822G>C (p.Asp1608His) c.2521G>C (p.Asp841His) c.2581G>C (p.Asp861His) c.2752G>C (p.Asp918His) n.571G>C c.4807G>C (p.Asp1603His) c.4867G>C (p.Asp1623His) c.4762G>C (p.Asp1588His) | |
| 2 | g.26465007C>T | CA346134664 | OTOF | c.4822G>A (p.Asp1608Asn) c.2521G>A (p.Asp841Asn) c.2581G>A (p.Asp861Asn) c.2752G>A (p.Asp918Asn) n.571G>A c.4807G>A (p.Asp1603Asn) c.4867G>A (p.Asp1623Asn) c.4762G>A (p.Asp1588Asn) | |
| 2 | g.26465008C>A | CA425207301 | OTOF | c.4821G>T (p.Arg1607=) c.2520G>T (p.Arg840=) c.2580G>T (p.Arg860=) c.2751G>T (p.Arg917=) n.570G>T c.4806G>T (p.Arg1602=) c.4866G>T (p.Arg1622=) c.4761G>T (p.Arg1587=) | |
| 2 | g.26465008C>G | CA425207299 | OTOF | c.4821G>C (p.Arg1607=) c.2520G>C (p.Arg840=) c.2580G>C (p.Arg860=) c.2751G>C (p.Arg917=) n.570G>C c.4806G>C (p.Arg1602=) c.4866G>C (p.Arg1622=) c.4761G>C (p.Arg1587=) | |
| 2 | g.26465008C>T | CA425207300 | OTOF | c.4821G>A (p.Arg1607=) c.2520G>A (p.Arg840=) c.2580G>A (p.Arg860=) c.2751G>A (p.Arg917=) n.570G>A c.4806G>A (p.Arg1602=) c.4866G>A (p.Arg1622=) c.4761G>A (p.Arg1587=) | gnomAD v4 |
| 2 | g.26465009C>A | CA346134665 | OTOF | c.4820G>T (p.Arg1607Leu) c.2519G>T (p.Arg840Leu) c.2579G>T (p.Arg860Leu) c.2750G>T (p.Arg917Leu) n.569G>T c.4805G>T (p.Arg1602Leu) c.4865G>T (p.Arg1622Leu) c.4760G>T (p.Arg1587Leu) | gnomAD v4 |
| 2 | g.26465009C= | CA1239816092 | OTOF | c.4820G= (p.Arg1607=) c.2519G= (p.Arg840=) c.2579G= (p.Arg860=) c.2750G= (p.Arg917=) n.569G= c.4805G= (p.Arg1602=) c.4865G= (p.Arg1622=) c.4760G= (p.Arg1587=) | |
| 2 | g.26465009C>G | CA346134666 | OTOF | c.4820G>C (p.Arg1607Pro) c.2519G>C (p.Arg840Pro) c.2579G>C (p.Arg860Pro) c.2750G>C (p.Arg917Pro) n.569G>C c.4805G>C (p.Arg1602Pro) c.4865G>C (p.Arg1622Pro) c.4760G>C (p.Arg1587Pro) | |
| 2 | g.26465009C>T | CA245041 | OTOF | c.4820G>A (p.Arg1607Gln) c.2519G>A (p.Arg840Gln) c.2579G>A (p.Arg860Gln) c.2750G>A (p.Arg917Gln) n.569G>A c.4805G>A (p.Arg1602Gln) c.4865G>A (p.Arg1622Gln) c.4760G>A (p.Arg1587Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 2 | g.26465010G>A | CA345129 | OTOF | c.4819C>T (p.Arg1607Trp) c.2518C>T (p.Arg840Trp) c.2578C>T (p.Arg860Trp) c.2749C>T (p.Arg917Trp) n.568C>T c.4804C>T (p.Arg1602Trp) c.4864C>T (p.Arg1622Trp) c.4759C>T (p.Arg1587Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26465010G>C | CA346134667 | OTOF | c.4819C>G (p.Arg1607Gly) c.2518C>G (p.Arg840Gly) c.2578C>G (p.Arg860Gly) c.2749C>G (p.Arg917Gly) n.568C>G c.4804C>G (p.Arg1602Gly) c.4864C>G (p.Arg1622Gly) c.4759C>G (p.Arg1587Gly) | |
| 2 | g.26465010G= | CA1239816098 | OTOF | c.4819C= (p.Arg1607=) c.2518C= (p.Arg840=) c.2578C= (p.Arg860=) c.2749C= (p.Arg917=) n.568C= c.4804C= (p.Arg1602=) c.4864C= (p.Arg1622=) c.4759C= (p.Arg1587=) | |
| 2 | g.26465010G>T | CA425207302 | OTOF | c.4819C>A (p.Arg1607=) c.2518C>A (p.Arg840=) c.2578C>A (p.Arg860=) c.2749C>A (p.Arg917=) n.568C>A c.4804C>A (p.Arg1602=) c.4864C>A (p.Arg1622=) c.4759C>A (p.Arg1587=) | gnomAD v4 COSMIC COSMIC |
| 2 | g.26465011C>A | CA346134669 | OTOF | c.4818G>T (p.Trp1606Cys) c.2517G>T (p.Trp839Cys) c.2577G>T (p.Trp859Cys) c.2748G>T (p.Trp916Cys) n.567G>T c.4803G>T (p.Trp1601Cys) c.4863G>T (p.Trp1621Cys) c.4758G>T (p.Trp1586Cys) | |
| 2 | g.26465011C= | CA1239816105 | OTOF | c.4818G= (p.Trp1606=) c.2517G= (p.Trp839=) c.2577G= (p.Trp859=) c.2748G= (p.Trp916=) n.567G= c.4803G= (p.Trp1601=) c.4863G= (p.Trp1621=) c.4758G= (p.Trp1586=) | |
| 2 | g.26465011C>G | CA346134668 | OTOF | c.4818G>C (p.Trp1606Cys) c.2517G>C (p.Trp839Cys) c.2577G>C (p.Trp859Cys) c.2748G>C (p.Trp916Cys) n.567G>C c.4803G>C (p.Trp1601Cys) c.4863G>C (p.Trp1621Cys) c.4758G>C (p.Trp1586Cys) | |
| 2 | g.26465011C>T | CA1563020 | OTOF | c.4818G>A (p.Trp1606Ter) c.2517G>A (p.Trp839Ter) c.2577G>A (p.Trp859Ter) c.2748G>A (p.Trp916Ter) n.567G>A c.4803G>A (p.Trp1601Ter) c.4863G>A (p.Trp1621Ter) c.4758G>A (p.Trp1586Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 2 | g.26465012C>A | CA346134670 | OTOF | c.4817G>T (p.Trp1606Leu) c.2516G>T (p.Trp839Leu) c.2576G>T (p.Trp859Leu) c.2747G>T (p.Trp916Leu) n.566G>T c.4802G>T (p.Trp1601Leu) c.4862G>T (p.Trp1621Leu) c.4757G>T (p.Trp1586Leu) | gnomAD v4 |
| 2 | g.26465012C>G | CA346134671 | OTOF | c.4817G>C (p.Trp1606Ser) c.2516G>C (p.Trp839Ser) c.2576G>C (p.Trp859Ser) c.2747G>C (p.Trp916Ser) n.566G>C c.4802G>C (p.Trp1601Ser) c.4862G>C (p.Trp1621Ser) c.4757G>C (p.Trp1586Ser) | |
| 2 | g.26465012C>T | CA346134672 | OTOF | c.4817G>A (p.Trp1606Ter) c.2516G>A (p.Trp839Ter) c.2576G>A (p.Trp859Ter) c.2747G>A (p.Trp916Ter) n.566G>A c.4802G>A (p.Trp1601Ter) c.4862G>A (p.Trp1621Ter) c.4757G>A (p.Trp1586Ter) | |
| 2 | g.26465013A= | CA1239816109 | OTOF | c.4816T= (p.Trp1606=) c.2515T= (p.Trp839=) c.2575T= (p.Trp859=) c.2746T= (p.Trp916=) n.565T= c.4801T= (p.Trp1601=) c.4861T= (p.Trp1621=) c.4756T= (p.Trp1586=) | |
| 2 | g.26465013A>C | CA346134673 | OTOF | c.4816T>G (p.Trp1606Gly) c.2515T>G (p.Trp839Gly) c.2575T>G (p.Trp859Gly) c.2746T>G (p.Trp916Gly) n.565T>G c.4801T>G (p.Trp1601Gly) c.4861T>G (p.Trp1621Gly) c.4756T>G (p.Trp1586Gly) | dbSNP gnomAD v2 |
| 2 | g.26465013A>G | CA346134674 | OTOF | c.4816T>C (p.Trp1606Arg) c.2515T>C (p.Trp839Arg) c.2575T>C (p.Trp859Arg) c.2746T>C (p.Trp916Arg) n.565T>C c.4801T>C (p.Trp1601Arg) c.4861T>C (p.Trp1621Arg) c.4756T>C (p.Trp1586Arg) | gnomAD v4 |
| 2 | g.26465013A>T | CA346134675 | OTOF | c.4816T>A (p.Trp1606Arg) c.2515T>A (p.Trp839Arg) c.2575T>A (p.Trp859Arg) c.2746T>A (p.Trp916Arg) n.565T>A c.4801T>A (p.Trp1601Arg) c.4861T>A (p.Trp1621Arg) c.4756T>A (p.Trp1586Arg) | |
| 2 | g.26465014G>A | CA425207303 | OTOF | c.4815C>T (p.Ile1605=) c.2514C>T (p.Ile838=) c.2574C>T (p.Ile858=) c.2745C>T (p.Ile915=) n.564C>T c.4800C>T (p.Ile1600=) c.4860C>T (p.Ile1620=) c.4755C>T (p.Ile1585=) | |
| 2 | g.26465014G>C | CA346134676 | OTOF | c.4815C>G (p.Ile1605Met) c.2514C>G (p.Ile838Met) c.2574C>G (p.Ile858Met) c.2745C>G (p.Ile915Met) n.564C>G c.4800C>G (p.Ile1600Met) c.4860C>G (p.Ile1620Met) c.4755C>G (p.Ile1585Met) | |
| 2 | g.26465014G>T | CA425207304 | OTOF | c.4815C>A (p.Ile1605=) c.2514C>A (p.Ile838=) c.2574C>A (p.Ile858=) c.2745C>A (p.Ile915=) n.564C>A c.4800C>A (p.Ile1600=) c.4860C>A (p.Ile1620=) c.4755C>A (p.Ile1585=) | |
| 2 | g.26465015A= | CA1239816113 | OTOF | c.4814T= (p.Ile1605=) c.2513T= (p.Ile838=) c.2573T= (p.Ile858=) c.2744T= (p.Ile915=) n.563T= c.4799T= (p.Ile1600=) c.4859T= (p.Ile1620=) c.4754T= (p.Ile1585=) | |
| 2 | g.26465015A>C | CA346134677 | OTOF | c.4814T>G (p.Ile1605Ser) c.2513T>G (p.Ile838Ser) c.2573T>G (p.Ile858Ser) c.2744T>G (p.Ile915Ser) n.563T>G c.4799T>G (p.Ile1600Ser) c.4859T>G (p.Ile1620Ser) c.4754T>G (p.Ile1585Ser) | |
| 2 | g.26465015A>G | CA1563021 | OTOF | c.4814T>C (p.Ile1605Thr) c.2513T>C (p.Ile838Thr) c.2573T>C (p.Ile858Thr) c.2744T>C (p.Ile915Thr) n.563T>C c.4799T>C (p.Ile1600Thr) c.4859T>C (p.Ile1620Thr) c.4754T>C (p.Ile1585Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26465015A>T | CA346134678 | OTOF | c.4814T>A (p.Ile1605Asn) c.2513T>A (p.Ile838Asn) c.2573T>A (p.Ile858Asn) c.2744T>A (p.Ile915Asn) n.563T>A c.4799T>A (p.Ile1600Asn) c.4859T>A (p.Ile1620Asn) c.4754T>A (p.Ile1585Asn) | |
| 2 | g.26465016T>A | CA346134679 | OTOF | c.4813A>T (p.Ile1605Phe) c.2512A>T (p.Ile838Phe) c.2572A>T (p.Ile858Phe) c.2743A>T (p.Ile915Phe) n.562A>T c.4798A>T (p.Ile1600Phe) c.4858A>T (p.Ile1620Phe) c.4753A>T (p.Ile1585Phe) | |
| 2 | g.26465016T>C | CA346134680 | OTOF | c.4813A>G (p.Ile1605Val) c.2512A>G (p.Ile838Val) c.2572A>G (p.Ile858Val) c.2743A>G (p.Ile915Val) n.562A>G c.4798A>G (p.Ile1600Val) c.4858A>G (p.Ile1620Val) c.4753A>G (p.Ile1585Val) | |
| 2 | g.26465016T>G | CA346134681 | OTOF | c.4813A>C (p.Ile1605Leu) c.2512A>C (p.Ile838Leu) c.2572A>C (p.Ile858Leu) c.2743A>C (p.Ile915Leu) n.562A>C c.4798A>C (p.Ile1600Leu) c.4858A>C (p.Ile1620Leu) c.4753A>C (p.Ile1585Leu) | |
| 2 | g.26465017A= | CA1239816119 | OTOF | c.4812T= (p.Asn1604=) c.2511T= (p.Asn837=) c.2571T= (p.Asn857=) c.2742T= (p.Asn914=) n.561T= c.4797T= (p.Asn1599=) c.4857T= (p.Asn1619=) c.4752T= (p.Asn1584=) | |
| 2 | g.26465017A>C | CA346134682 | OTOF | c.4812T>G (p.Asn1604Lys) c.2511T>G (p.Asn837Lys) c.2571T>G (p.Asn857Lys) c.2742T>G (p.Asn914Lys) n.561T>G c.4797T>G (p.Asn1599Lys) c.4857T>G (p.Asn1619Lys) c.4752T>G (p.Asn1584Lys) | |
| 2 | g.26465017A>G | CA425207305 | OTOF | c.4812T>C (p.Asn1604=) c.2511T>C (p.Asn837=) c.2571T>C (p.Asn857=) c.2742T>C (p.Asn914=) n.561T>C c.4797T>C (p.Asn1599=) c.4857T>C (p.Asn1619=) c.4752T>C (p.Asn1584=) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26465017A>T | CA1563022 | OTOF | c.4812T>A (p.Asn1604Lys) c.2511T>A (p.Asn837Lys) c.2571T>A (p.Asn857Lys) c.2742T>A (p.Asn914Lys) n.561T>A c.4797T>A (p.Asn1599Lys) c.4857T>A (p.Asn1619Lys) c.4752T>A (p.Asn1584Lys) | dbSNP ExAC gnomAD v2 |
| 2 | g.26465018T>A | CA346134683 | OTOF | c.4811A>T (p.Asn1604Ile) c.2510A>T (p.Asn837Ile) c.2570A>T (p.Asn857Ile) c.2741A>T (p.Asn914Ile) n.560A>T c.4796A>T (p.Asn1599Ile) c.4856A>T (p.Asn1619Ile) c.4751A>T (p.Asn1584Ile) | |
| 2 | g.26465018T>C | CA346134684 | OTOF | c.4811A>G (p.Asn1604Ser) c.2510A>G (p.Asn837Ser) c.2570A>G (p.Asn857Ser) c.2741A>G (p.Asn914Ser) n.560A>G c.4796A>G (p.Asn1599Ser) c.4856A>G (p.Asn1619Ser) c.4751A>G (p.Asn1584Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26465018T>G | CA346134685 | OTOF | c.4811A>C (p.Asn1604Thr) c.2510A>C (p.Asn837Thr) c.2570A>C (p.Asn857Thr) c.2741A>C (p.Asn914Thr) n.560A>C c.4796A>C (p.Asn1599Thr) c.4856A>C (p.Asn1619Thr) c.4751A>C (p.Asn1584Thr) | |
| 2 | g.26465018T= | CA1239816125 | OTOF | c.4811A= (p.Asn1604=) c.2510A= (p.Asn837=) c.2570A= (p.Asn857=) c.2741A= (p.Asn914=) n.560A= c.4796A= (p.Asn1599=) c.4856A= (p.Asn1619=) c.4751A= (p.Asn1584=) | |
| 2 | g.26465019T>A | CA346134686 | OTOF | c.4810A>T (p.Asn1604Tyr) c.2509A>T (p.Asn837Tyr) c.2569A>T (p.Asn857Tyr) c.2740A>T (p.Asn914Tyr) n.559A>T c.4795A>T (p.Asn1599Tyr) c.4855A>T (p.Asn1619Tyr) c.4750A>T (p.Asn1584Tyr) | |
| 2 | g.26465019T>C | CA346134687 | OTOF | c.4810A>G (p.Asn1604Asp) c.2509A>G (p.Asn837Asp) c.2569A>G (p.Asn857Asp) c.2740A>G (p.Asn914Asp) n.559A>G c.4795A>G (p.Asn1599Asp) c.4855A>G (p.Asn1619Asp) c.4750A>G (p.Asn1584Asp) | dbSNP |
| 2 | g.26465019T>G | CA346134688 | OTOF | c.4810A>C (p.Asn1604His) c.2509A>C (p.Asn837His) c.2569A>C (p.Asn857His) c.2740A>C (p.Asn914His) n.559A>C c.4795A>C (p.Asn1599His) c.4855A>C (p.Asn1619His) c.4750A>C (p.Asn1584His) | |
| 2 | g.26465019T= | CA1239816128 | OTOF | c.4810A= (p.Asn1604=) c.2509A= (p.Asn837=) c.2569A= (p.Asn857=) c.2740A= (p.Asn914=) n.559A= c.4795A= (p.Asn1599=) c.4855A= (p.Asn1619=) c.4750A= (p.Asn1584=) | |
| 2 | g.26465020G>A | CA1563023 | OTOF | c.4809C>T (p.Tyr1603=) c.2508C>T (p.Tyr836=) c.2568C>T (p.Tyr856=) c.2739C>T (p.Tyr913=) n.558C>T c.4794C>T (p.Tyr1598=) c.4854C>T (p.Tyr1618=) c.4749C>T (p.Tyr1583=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26465020G>C | CA346134689 | OTOF | c.4809C>G (p.Tyr1603Ter) c.2508C>G (p.Tyr836Ter) c.2568C>G (p.Tyr856Ter) c.2739C>G (p.Tyr913Ter) n.558C>G c.4794C>G (p.Tyr1598Ter) c.4854C>G (p.Tyr1618Ter) c.4749C>G (p.Tyr1583Ter) | |
| 2 | g.26465020G= | CA1239816133 | OTOF | c.4809C= (p.Tyr1603=) c.2508C= (p.Tyr836=) c.2568C= (p.Tyr856=) c.2739C= (p.Tyr913=) n.558C= c.4794C= (p.Tyr1598=) c.4854C= (p.Tyr1618=) c.4749C= (p.Tyr1583=) | |
| 2 | g.26465020G>T | CA345127 | OTOF | c.4809C>A (p.Tyr1603Ter) c.2508C>A (p.Tyr836Ter) c.2568C>A (p.Tyr856Ter) c.2739C>A (p.Tyr913Ter) n.558C>A c.4794C>A (p.Tyr1598Ter) c.4854C>A (p.Tyr1618Ter) c.4749C>A (p.Tyr1583Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26465021T>A | CA346134690 | OTOF | c.4808A>T (p.Tyr1603Phe) c.2507A>T (p.Tyr836Phe) c.2567A>T (p.Tyr856Phe) c.2738A>T (p.Tyr913Phe) n.557A>T c.4793A>T (p.Tyr1598Phe) c.4853A>T (p.Tyr1618Phe) c.4748A>T (p.Tyr1583Phe) | |
| 2 | g.26465021T>C | CA346134691 | OTOF | c.4808A>G (p.Tyr1603Cys) c.2507A>G (p.Tyr836Cys) c.2567A>G (p.Tyr856Cys) c.2738A>G (p.Tyr913Cys) n.557A>G c.4793A>G (p.Tyr1598Cys) c.4853A>G (p.Tyr1618Cys) c.4748A>G (p.Tyr1583Cys) | |
| 2 | g.26465021T>G | CA346134692 | OTOF | c.4808A>C (p.Tyr1603Ser) c.2507A>C (p.Tyr836Ser) c.2567A>C (p.Tyr856Ser) c.2738A>C (p.Tyr913Ser) n.557A>C c.4793A>C (p.Tyr1598Ser) c.4853A>C (p.Tyr1618Ser) c.4748A>C (p.Tyr1583Ser) | |
| 2 | g.26465022A>C | CA346134695 | OTOF | c.4807T>G (p.Tyr1603Asp) c.2506T>G (p.Tyr836Asp) c.2566T>G (p.Tyr856Asp) c.2737T>G (p.Tyr913Asp) n.556T>G c.4792T>G (p.Tyr1598Asp) c.4852T>G (p.Tyr1618Asp) c.4747T>G (p.Tyr1583Asp) | |
| 2 | g.26465022A>G | CA346134694 | OTOF | c.4807T>C (p.Tyr1603His) c.2506T>C (p.Tyr836His) c.2566T>C (p.Tyr856His) c.2737T>C (p.Tyr913His) n.556T>C c.4792T>C (p.Tyr1598His) c.4852T>C (p.Tyr1618His) c.4747T>C (p.Tyr1583His) | |
| 2 | g.26465022A>T | CA346134693 | OTOF | c.4807T>A (p.Tyr1603Asn) c.2506T>A (p.Tyr836Asn) c.2566T>A (p.Tyr856Asn) c.2737T>A (p.Tyr913Asn) n.556T>A c.4792T>A (p.Tyr1598Asn) c.4852T>A (p.Tyr1618Asn) c.4747T>A (p.Tyr1583Asn) | |
| 2 | g.26465023G>A | CA425207306 | OTOF | c.4806C>T (p.Gly1602=) c.2505C>T (p.Gly835=) c.2565C>T (p.Gly855=) c.2736C>T (p.Gly912=) n.555C>T c.4791C>T (p.Gly1597=) c.4851C>T (p.Gly1617=) c.4746C>T (p.Gly1582=) | |
| 2 | g.26465023G>C | CA425207307 | OTOF | c.4806C>G (p.Gly1602=) c.2505C>G (p.Gly835=) c.2565C>G (p.Gly855=) c.2736C>G (p.Gly912=) n.555C>G c.4791C>G (p.Gly1597=) c.4851C>G (p.Gly1617=) c.4746C>G (p.Gly1582=) | |
| 2 | g.26465023G>T | CA425207308 | OTOF | c.4806C>A (p.Gly1602=) c.2505C>A (p.Gly835=) c.2565C>A (p.Gly855=) c.2736C>A (p.Gly912=) n.555C>A c.4791C>A (p.Gly1597=) c.4851C>A (p.Gly1617=) c.4746C>A (p.Gly1582=) | gnomAD v4 |
| 2 | g.26465024C>A | CA346134696 | OTOF | c.4805G>T (p.Gly1602Val) c.2504G>T (p.Gly835Val) c.2564G>T (p.Gly855Val) c.2735G>T (p.Gly912Val) n.554G>T c.4790G>T (p.Gly1597Val) c.4850G>T (p.Gly1617Val) c.4745G>T (p.Gly1582Val) | dbSNP gnomAD v4 |
| 2 | g.26465024C= | CA1239816139 | OTOF | c.4805G= (p.Gly1602=) c.2504G= (p.Gly835=) c.2564G= (p.Gly855=) c.2735G= (p.Gly912=) n.554G= c.4790G= (p.Gly1597=) c.4850G= (p.Gly1617=) c.4745G= (p.Gly1582=) | |
| 2 | g.26465024C>G | CA346134697 | OTOF | c.4805G>C (p.Gly1602Ala) c.2504G>C (p.Gly835Ala) c.2564G>C (p.Gly855Ala) c.2735G>C (p.Gly912Ala) n.554G>C c.4790G>C (p.Gly1597Ala) c.4850G>C (p.Gly1617Ala) c.4745G>C (p.Gly1582Ala) | |
| 2 | g.26465024C>T | CA346134698 | OTOF | c.4805G>A (p.Gly1602Asp) c.2504G>A (p.Gly835Asp) c.2564G>A (p.Gly855Asp) c.2735G>A (p.Gly912Asp) n.554G>A c.4790G>A (p.Gly1597Asp) c.4850G>A (p.Gly1617Asp) c.4745G>A (p.Gly1582Asp) | gnomAD v4 |
| 2 | g.26465025C>A | CA346134699 | OTOF | c.4804G>T (p.Gly1602Cys) c.2503G>T (p.Gly835Cys) c.2563G>T (p.Gly855Cys) c.2734G>T (p.Gly912Cys) n.553G>T c.4789G>T (p.Gly1597Cys) c.4849G>T (p.Gly1617Cys) c.4744G>T (p.Gly1582Cys) | |
| 2 | g.26465025C= | CA1239816142 | OTOF | c.4804G= (p.Gly1602=) c.2503G= (p.Gly835=) c.2563G= (p.Gly855=) c.2734G= (p.Gly912=) n.553G= c.4789G= (p.Gly1597=) c.4849G= (p.Gly1617=) c.4744G= (p.Gly1582=) | |
| 2 | g.26465025C>G | CA346134700 | OTOF | c.4804G>C (p.Gly1602Arg) c.2503G>C (p.Gly835Arg) c.2563G>C (p.Gly855Arg) c.2734G>C (p.Gly912Arg) n.553G>C c.4789G>C (p.Gly1597Arg) c.4849G>C (p.Gly1617Arg) c.4744G>C (p.Gly1582Arg) | |
| 2 | g.26465025C>T | CA1563024 | OTOF | c.4804G>A (p.Gly1602Ser) c.2503G>A (p.Gly835Ser) c.2563G>A (p.Gly855Ser) c.2734G>A (p.Gly912Ser) n.553G>A c.4789G>A (p.Gly1597Ser) c.4849G>A (p.Gly1617Ser) c.4744G>A (p.Gly1582Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26465026A= | CA1239816144 | OTOF | c.4803T= (p.His1601=) c.2502T= (p.His834=) c.2562T= (p.His854=) c.2733T= (p.His911=) n.552T= c.4788T= (p.His1596=) c.4848T= (p.His1616=) c.4743T= (p.His1581=) | |
| 2 | g.26465026A>C | CA346134701 | OTOF | c.4803T>G (p.His1601Gln) c.2502T>G (p.His834Gln) c.2562T>G (p.His854Gln) c.2733T>G (p.His911Gln) n.552T>G c.4788T>G (p.His1596Gln) c.4848T>G (p.His1616Gln) c.4743T>G (p.His1581Gln) | |
| 2 | g.26465026A>G | CA1563025 | OTOF | c.4803T>C (p.His1601=) c.2502T>C (p.His834=) c.2562T>C (p.His854=) c.2733T>C (p.His911=) n.552T>C c.4788T>C (p.His1596=) c.4848T>C (p.His1616=) c.4743T>C (p.His1581=) | ClinVar dbSNP ExAC gnomAD v2 |
| 2 | g.26465026A>T | CA346134702 | OTOF | c.4803T>A (p.His1601Gln) c.2502T>A (p.His834Gln) c.2562T>A (p.His854Gln) c.2733T>A (p.His911Gln) n.552T>A c.4788T>A (p.His1596Gln) c.4848T>A (p.His1616Gln) c.4743T>A (p.His1581Gln) | |
| 2 | g.26465027T>A | CA346134703 | OTOF | c.4802A>T (p.His1601Leu) c.2501A>T (p.His834Leu) c.2561A>T (p.His854Leu) c.2732A>T (p.His911Leu) n.551A>T c.4787A>T (p.His1596Leu) c.4847A>T (p.His1616Leu) c.4742A>T (p.His1581Leu) | |
| 2 | g.26465027T>C | CA346134704 | OTOF | c.4802A>G (p.His1601Arg) c.2501A>G (p.His834Arg) c.2561A>G (p.His854Arg) c.2732A>G (p.His911Arg) n.551A>G c.4787A>G (p.His1596Arg) c.4847A>G (p.His1616Arg) c.4742A>G (p.His1581Arg) | gnomAD v4 |
| 2 | g.26465027T>G | CA346134705 | OTOF | c.4802A>C (p.His1601Pro) c.2501A>C (p.His834Pro) c.2561A>C (p.His854Pro) c.2732A>C (p.His911Pro) n.551A>C c.4787A>C (p.His1596Pro) c.4847A>C (p.His1616Pro) c.4742A>C (p.His1581Pro) | |
| 2 | g.26465028G>A | CA346134708 | OTOF | c.4801C>T (p.His1601Tyr) c.2500C>T (p.His834Tyr) c.2560C>T (p.His854Tyr) c.2731C>T (p.His911Tyr) n.550C>T c.4786C>T (p.His1596Tyr) c.4846C>T (p.His1616Tyr) c.4741C>T (p.His1581Tyr) | |
| 2 | g.26465028G>C | CA346134707 | OTOF | c.4801C>G (p.His1601Asp) c.2500C>G (p.His834Asp) c.2560C>G (p.His854Asp) c.2731C>G (p.His911Asp) n.550C>G c.4786C>G (p.His1596Asp) c.4846C>G (p.His1616Asp) c.4741C>G (p.His1581Asp) | |
| 2 | g.26465028G>T | CA346134706 | OTOF | c.4801C>A (p.His1601Asn) c.2500C>A (p.His834Asn) c.2560C>A (p.His854Asn) c.2731C>A (p.His911Asn) n.550C>A c.4786C>A (p.His1596Asn) c.4846C>A (p.His1616Asn) c.4741C>A (p.His1581Asn) | |
| 2 | g.26465029T>A | CA425207309 | OTOF | c.4800A>T (p.Thr1600=) c.2499A>T (p.Thr833=) c.2559A>T (p.Thr853=) c.2730A>T (p.Thr910=) n.549A>T c.4785A>T (p.Thr1595=) c.4845A>T (p.Thr1615=) c.4740A>T (p.Thr1580=) | |
| 2 | g.26465029T>C | CA425207310 | OTOF | c.4800A>G (p.Thr1600=) c.2499A>G (p.Thr833=) c.2559A>G (p.Thr853=) c.2730A>G (p.Thr910=) n.549A>G c.4785A>G (p.Thr1595=) c.4845A>G (p.Thr1615=) c.4740A>G (p.Thr1580=) | gnomAD v4 |
| 2 | g.26465029T>G | CA425207311 | OTOF | c.4800A>C (p.Thr1600=) c.2499A>C (p.Thr833=) c.2559A>C (p.Thr853=) c.2730A>C (p.Thr910=) n.549A>C c.4785A>C (p.Thr1595=) c.4845A>C (p.Thr1615=) c.4740A>C (p.Thr1580=) | |
| 2 | g.26465030C>A | CA346134709 | OTOF | c.4800-1G>T (n.4800-1G>T) c.2499-1G>T (n.2499-1G>T) c.2559-1G>T (n.2559-1G>T) c.2730-1G>T (n.2730-1G>T) n.549-1G>T c.4785-1G>T (n.4785-1G>T) c.4845-1G>T (n.4845-1G>T) c.4740-1G>T (n.4740-1G>T) | gnomAD v4 |
| 2 | g.26465030C>G | CA346134711 | OTOF | c.4800-1G>C (n.4800-1G>C) c.2499-1G>C (n.2499-1G>C) c.2559-1G>C (n.2559-1G>C) c.2730-1G>C (n.2730-1G>C) n.549-1G>C c.4785-1G>C (n.4785-1G>C) c.4845-1G>C (n.4845-1G>C) c.4740-1G>C (n.4740-1G>C) | |
| 2 | g.26465030C>T | CA346134710 | OTOF | c.4800-1G>A (n.4800-1G>A) c.2499-1G>A (n.2499-1G>A) c.2559-1G>A (n.2559-1G>A) c.2730-1G>A (n.2730-1G>A) n.549-1G>A c.4785-1G>A (n.4785-1G>A) c.4845-1G>A (n.4845-1G>A) c.4740-1G>A (n.4740-1G>A) | COSMIC COSMIC COSMIC |
| 2 | g.26465031T>A | CA346134712 | OTOF | c.4800-2A>T (n.4800-2A>T) c.2499-2A>T (n.2499-2A>T) c.2559-2A>T (n.2559-2A>T) c.2730-2A>T (n.2730-2A>T) n.549-2A>T c.4785-2A>T (n.4785-2A>T) c.4845-2A>T (n.4845-2A>T) c.4740-2A>T (n.4740-2A>T) | |
| 2 | g.26465031T>C | CA1563026 | OTOF | c.4800-2A>G (n.4800-2A>G) c.2499-2A>G (n.2499-2A>G) c.2559-2A>G (n.2559-2A>G) c.2730-2A>G (n.2730-2A>G) n.549-2A>G c.4785-2A>G (n.4785-2A>G) c.4845-2A>G (n.4845-2A>G) c.4740-2A>G (n.4740-2A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26465031T>G | CA346134713 | OTOF | c.4800-2A>C (n.4800-2A>C) c.2499-2A>C (n.2499-2A>C) c.2559-2A>C (n.2559-2A>C) c.2730-2A>C (n.2730-2A>C) n.549-2A>C c.4785-2A>C (n.4785-2A>C) c.4845-2A>C (n.4845-2A>C) c.4740-2A>C (n.4740-2A>C) | |
| 2 | g.26465031T= | CA1239816146 | OTOF | c.4800-2A= (n.4800-2A=) c.2499-2A= (n.2499-2A=) c.2559-2A= (n.2559-2A=) c.2730-2A= (n.2730-2A=) n.549-2A= c.4785-2A= (n.4785-2A=) c.4845-2A= (n.4845-2A=) c.4740-2A= (n.4740-2A=) | |
| 2 | g.26465032G>A | CA2658234013 | OTOF | c.4800-3C>T (n.4800-3C>T) c.2499-3C>T (n.2499-3C>T) c.2559-3C>T (n.2559-3C>T) c.2730-3C>T (n.2730-3C>T) n.549-3C>T c.4785-3C>T (n.4785-3C>T) c.4845-3C>T (n.4845-3C>T) c.4740-3C>T (n.4740-3C>T) | gnomAD v4 |
| 2 | g.26465033T>C | CA531761777 | OTOF | c.4800-4A>G (n.4800-4A>G) c.2499-4A>G (n.2499-4A>G) c.2559-4A>G (n.2559-4A>G) c.2730-4A>G (n.2730-4A>G) n.549-4A>G c.4785-4A>G (n.4785-4A>G) c.4845-4A>G (n.4845-4A>G) c.4740-4A>G (n.4740-4A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26465033T= | CA1239816149 | OTOF | c.4800-4A= (n.4800-4A=) c.2499-4A= (n.2499-4A=) c.2559-4A= (n.2559-4A=) c.2730-4A= (n.2730-4A=) n.549-4A= c.4785-4A= (n.4785-4A=) c.4845-4A= (n.4845-4A=) c.4740-4A= (n.4740-4A=) | |
| 2 | g.26465034G>A | CA2658234014 | OTOF | c.4800-5C>T (n.4800-5C>T) c.2499-5C>T (n.2499-5C>T) c.2559-5C>T (n.2559-5C>T) c.2730-5C>T (n.2730-5C>T) n.549-5C>T c.4785-5C>T (n.4785-5C>T) c.4845-5C>T (n.4845-5C>T) c.4740-5C>T (n.4740-5C>T) | gnomAD v4 |
| 2 | g.26465036G>C | CA2658234015 | OTOF | c.4800-7C>G (n.4800-7C>G) c.2499-7C>G (n.2499-7C>G) c.2559-7C>G (n.2559-7C>G) c.2730-7C>G (n.2730-7C>G) n.549-7C>G c.4785-7C>G (n.4785-7C>G) c.4845-7C>G (n.4845-7C>G) c.4740-7C>G (n.4740-7C>G) | gnomAD v4 |
| 2 | g.26465036G>T | CA2698924098 | OTOF | c.4800-7C>A (n.4800-7C>A) c.2499-7C>A (n.2499-7C>A) c.2559-7C>A (n.2559-7C>A) c.2730-7C>A (n.2730-7C>A) n.549-7C>A c.4785-7C>A (n.4785-7C>A) c.4845-7C>A (n.4845-7C>A) c.4740-7C>A (n.4740-7C>A) | dbSNP |
| 2 | g.26465038G>A | CA531761778 | OTOF | c.4800-9C>T (n.4800-9C>T) c.2499-9C>T (n.2499-9C>T) c.2559-9C>T (n.2559-9C>T) c.2730-9C>T (n.2730-9C>T) n.549-9C>T c.4785-9C>T (n.4785-9C>T) c.4845-9C>T (n.4845-9C>T) c.4740-9C>T (n.4740-9C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26465038G= | CA1239816152 | OTOF | c.4800-9C= (n.4800-9C=) c.2499-9C= (n.2499-9C=) c.2559-9C= (n.2559-9C=) c.2730-9C= (n.2730-9C=) n.549-9C= c.4785-9C= (n.4785-9C=) c.4845-9C= (n.4845-9C=) c.4740-9C= (n.4740-9C=) | |
| 2 | g.26465041dup | CA2658234016 | OTOF | c.4800-9dup (n.4800-9dup) c.2499-9dup (n.2499-9dup) c.2559-9dup (n.2559-9dup) c.2730-9dup (n.2730-9dup) n.549-9dup c.4785-9dup (n.4785-9dup) c.4845-9dup (n.4845-9dup) c.4740-9dup (n.4740-9dup) | gnomAD v4 |
| 2 | g.26465041del | CA2576698967 | OTOF | c.4800-9del (n.4800-9del) c.2499-9del (n.2499-9del) c.2559-9del (n.2559-9del) c.2730-9del (n.2730-9del) n.549-9del c.4785-9del (n.4785-9del) c.4845-9del (n.4845-9del) c.4740-9del (n.4740-9del) | gnomAD v4 |
| 2 | g.26465039G>C | CA1239816155 | OTOF | c.4800-10C>G (n.4800-10C>G) c.2499-10C>G (n.2499-10C>G) c.2559-10C>G (n.2559-10C>G) c.2730-10C>G (n.2730-10C>G) n.549-10C>G c.4785-10C>G (n.4785-10C>G) c.4845-10C>G (n.4845-10C>G) c.4740-10C>G (n.4740-10C>G) | dbSNP gnomAD v4 |
| 2 | g.26465039G= | CA1239816157 | OTOF | c.4800-10C= (n.4800-10C=) c.2499-10C= (n.2499-10C=) c.2559-10C= (n.2559-10C=) c.2730-10C= (n.2730-10C=) n.549-10C= c.4785-10C= (n.4785-10C=) c.4845-10C= (n.4845-10C=) c.4740-10C= (n.4740-10C=) | |
| 2 | g.26465039G>T | CA2576698968 | OTOF | c.4800-10C>A (n.4800-10C>A) c.2499-10C>A (n.2499-10C>A) c.2559-10C>A (n.2559-10C>A) c.2730-10C>A (n.2730-10C>A) n.549-10C>A c.4785-10C>A (n.4785-10C>A) c.4845-10C>A (n.4845-10C>A) c.4740-10C>A (n.4740-10C>A) | |
| 2 | g.26465040G>A | CA182455 | OTOF | c.4800-11C>T (n.4800-11C>T) c.2499-11C>T (n.2499-11C>T) c.2559-11C>T (n.2559-11C>T) c.2730-11C>T (n.2730-11C>T) n.549-11C>T c.4785-11C>T (n.4785-11C>T) c.4845-11C>T (n.4845-11C>T) c.4740-11C>T (n.4740-11C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26465040G>C | CA2697547935 | OTOF | c.4800-11C>G (n.4800-11C>G) c.2499-11C>G (n.2499-11C>G) c.2559-11C>G (n.2559-11C>G) c.2730-11C>G (n.2730-11C>G) n.549-11C>G c.4785-11C>G (n.4785-11C>G) c.4845-11C>G (n.4845-11C>G) c.4740-11C>G (n.4740-11C>G) | ClinVar |
| 2 | g.26465040G= | CA1239816160 | OTOF | c.4800-11C= (n.4800-11C=) c.2499-11C= (n.2499-11C=) c.2559-11C= (n.2559-11C=) c.2730-11C= (n.2730-11C=) n.549-11C= c.4785-11C= (n.4785-11C=) c.4845-11C= (n.4845-11C=) c.4740-11C= (n.4740-11C=) | |
| 2 | g.26465041G>A | CA767292413 | OTOF | c.4800-12C>T (n.4800-12C>T) c.2499-12C>T (n.2499-12C>T) c.2559-12C>T (n.2559-12C>T) c.2730-12C>T (n.2730-12C>T) n.549-12C>T c.4785-12C>T (n.4785-12C>T) c.4845-12C>T (n.4845-12C>T) c.4740-12C>T (n.4740-12C>T) | dbSNP gnomAD v4 |
| 2 | g.26465041G= | CA1239816163 | OTOF | c.4800-12C= (n.4800-12C=) c.2499-12C= (n.2499-12C=) c.2559-12C= (n.2559-12C=) c.2730-12C= (n.2730-12C=) n.549-12C= c.4785-12C= (n.4785-12C=) c.4845-12C= (n.4845-12C=) c.4740-12C= (n.4740-12C=) | |
| 2 | g.26465041G>T | CA2658234017 | OTOF | c.4800-12C>A (n.4800-12C>A) c.2499-12C>A (n.2499-12C>A) c.2559-12C>A (n.2559-12C>A) c.2730-12C>A (n.2730-12C>A) n.549-12C>A c.4785-12C>A (n.4785-12C>A) c.4845-12C>A (n.4845-12C>A) c.4740-12C>A (n.4740-12C>A) | gnomAD v4 |
| 2 | g.26465042A= | CA1239816166 | OTOF | c.4800-13T= (n.4800-13T=) c.2499-13T= (n.2499-13T=) c.2559-13T= (n.2559-13T=) c.2730-13T= (n.2730-13T=) n.549-13T= c.4785-13T= (n.4785-13T=) c.4845-13T= (n.4845-13T=) c.4740-13T= (n.4740-13T=) | |
| 2 | g.26465042A>C | CA767292414 | OTOF | c.4800-13T>G (n.4800-13T>G) c.2499-13T>G (n.2499-13T>G) c.2559-13T>G (n.2559-13T>G) c.2730-13T>G (n.2730-13T>G) n.549-13T>G c.4785-13T>G (n.4785-13T>G) c.4845-13T>G (n.4845-13T>G) c.4740-13T>G (n.4740-13T>G) | dbSNP |
| 2 | g.26465044A= | CA1239816167 | OTOF | c.4800-15T= (n.4800-15T=) c.2499-15T= (n.2499-15T=) c.2559-15T= (n.2559-15T=) c.2730-15T= (n.2730-15T=) n.549-15T= c.4785-15T= (n.4785-15T=) c.4845-15T= (n.4845-15T=) c.4740-15T= (n.4740-15T=) | |
| 2 | g.26465044A>G | CA1239816168 | OTOF | c.4800-15T>C (n.4800-15T>C) c.2499-15T>C (n.2499-15T>C) c.2559-15T>C (n.2559-15T>C) c.2730-15T>C (n.2730-15T>C) n.549-15T>C c.4785-15T>C (n.4785-15T>C) c.4845-15T>C (n.4845-15T>C) c.4740-15T>C (n.4740-15T>C) | dbSNP |
| 2 | g.26465045C>A | CA1563027 | OTOF | c.4800-16G>T (n.4800-16G>T) c.2499-16G>T (n.2499-16G>T) c.2559-16G>T (n.2559-16G>T) c.2730-16G>T (n.2730-16G>T) n.549-16G>T c.4785-16G>T (n.4785-16G>T) c.4845-16G>T (n.4845-16G>T) c.4740-16G>T (n.4740-16G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26465045C= | CA1239816169 | OTOF | c.4800-16G= (n.4800-16G=) c.2499-16G= (n.2499-16G=) c.2559-16G= (n.2559-16G=) c.2730-16G= (n.2730-16G=) n.549-16G= c.4785-16G= (n.4785-16G=) c.4845-16G= (n.4845-16G=) c.4740-16G= (n.4740-16G=) | |
| 2 | g.26465045C>T | CA2658234018 | OTOF | c.4800-16G>A (n.4800-16G>A) c.2499-16G>A (n.2499-16G>A) c.2559-16G>A (n.2559-16G>A) c.2730-16G>A (n.2730-16G>A) n.549-16G>A c.4785-16G>A (n.4785-16G>A) c.4845-16G>A (n.4845-16G>A) c.4740-16G>A (n.4740-16G>A) | gnomAD v4 |
| 2 | g.26465047C>A | CA2658234019 | OTOF | c.4800-18G>T (n.4800-18G>T) c.2499-18G>T (n.2499-18G>T) c.2559-18G>T (n.2559-18G>T) c.2730-18G>T (n.2730-18G>T) n.549-18G>T c.4785-18G>T (n.4785-18G>T) c.4845-18G>T (n.4845-18G>T) c.4740-18G>T (n.4740-18G>T) | gnomAD v4 |
| 2 | g.26465047C>G | CA2576698969 | OTOF | c.4800-18G>C (n.4800-18G>C) c.2499-18G>C (n.2499-18G>C) c.2559-18G>C (n.2559-18G>C) c.2730-18G>C (n.2730-18G>C) n.549-18G>C c.4785-18G>C (n.4785-18G>C) c.4845-18G>C (n.4845-18G>C) c.4740-18G>C (n.4740-18G>C) | gnomAD v4 |
| 2 | g.26465048del | CA2739274267 | OTOF | c.4800-19del (n.4800-19del) c.2499-19del (n.2499-19del) c.2559-19del (n.2559-19del) c.2730-19del (n.2730-19del) n.549-19del c.4785-19del (n.4785-19del) c.4845-19del (n.4845-19del) c.4740-19del (n.4740-19del) | ClinVar |
| 2 | g.26465048A>G | CA2658234020 | OTOF | c.4800-19T>C (n.4800-19T>C) c.2499-19T>C (n.2499-19T>C) c.2559-19T>C (n.2559-19T>C) c.2730-19T>C (n.2730-19T>C) n.549-19T>C c.4785-19T>C (n.4785-19T>C) c.4845-19T>C (n.4845-19T>C) c.4740-19T>C (n.4740-19T>C) | gnomAD v4 |
| 2 | g.26465049G>T | CA2658234021 | OTOF | c.4800-20C>A (n.4800-20C>A) c.2499-20C>A (n.2499-20C>A) c.2559-20C>A (n.2559-20C>A) c.2730-20C>A (n.2730-20C>A) n.549-20C>A c.4785-20C>A (n.4785-20C>A) c.4845-20C>A (n.4845-20C>A) c.4740-20C>A (n.4740-20C>A) | gnomAD v4 |
| 2 | g.26465050G>A | CA2658234022 | OTOF | c.4800-21C>T (n.4800-21C>T) c.2499-21C>T (n.2499-21C>T) c.2559-21C>T (n.2559-21C>T) c.2730-21C>T (n.2730-21C>T) n.549-21C>T c.4785-21C>T (n.4785-21C>T) c.4845-21C>T (n.4845-21C>T) c.4740-21C>T (n.4740-21C>T) | gnomAD v4 |
| 2 | g.26465051C>A | CA2658234024 | OTOF | c.4800-22G>T (n.4800-22G>T) c.2499-22G>T (n.2499-22G>T) c.2559-22G>T (n.2559-22G>T) c.2730-22G>T (n.2730-22G>T) n.549-22G>T c.4785-22G>T (n.4785-22G>T) c.4845-22G>T (n.4845-22G>T) c.4740-22G>T (n.4740-22G>T) | gnomAD v4 |
| 2 | g.26465051C= | CA1239816170 | OTOF | c.4800-22G= (n.4800-22G=) c.2499-22G= (n.2499-22G=) c.2559-22G= (n.2559-22G=) c.2730-22G= (n.2730-22G=) n.549-22G= c.4785-22G= (n.4785-22G=) c.4845-22G= (n.4845-22G=) c.4740-22G= (n.4740-22G=) | |
| 2 | g.26465051C>G | CA531761779 | OTOF | c.4800-22G>C (n.4800-22G>C) c.2499-22G>C (n.2499-22G>C) c.2559-22G>C (n.2559-22G>C) c.2730-22G>C (n.2730-22G>C) n.549-22G>C c.4785-22G>C (n.4785-22G>C) c.4845-22G>C (n.4845-22G>C) c.4740-22G>C (n.4740-22G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26465051C>T | CA2658234023 | OTOF | c.4800-22G>A (n.4800-22G>A) c.2499-22G>A (n.2499-22G>A) c.2559-22G>A (n.2559-22G>A) c.2730-22G>A (n.2730-22G>A) n.549-22G>A c.4785-22G>A (n.4785-22G>A) c.4845-22G>A (n.4845-22G>A) c.4740-22G>A (n.4740-22G>A) | gnomAD v4 |
| 2 | g.26465052_26465056del | CA2749240383 | OTOF | c.4800-27_4800-23del (n.4800-27_4800-23del) c.2499-27_2499-23del (n.2499-27_2499-23del) c.2559-27_2559-23del (n.2559-27_2559-23del) c.2730-27_2730-23del (n.2730-27_2730-23del) n.549-27_549-23del c.4785-27_4785-23del (n.4785-27_4785-23del) c.4845-27_4845-23del (n.4845-27_4845-23del) c.4740-27_4740-23del (n.4740-27_4740-23del) | |
| 2 | g.26465054G>C | CA2658234025 | OTOF | c.4800-25C>G (n.4800-25C>G) c.2499-25C>G (n.2499-25C>G) c.2559-25C>G (n.2559-25C>G) c.2730-25C>G (n.2730-25C>G) n.549-25C>G c.4785-25C>G (n.4785-25C>G) c.4845-25C>G (n.4845-25C>G) c.4740-25C>G (n.4740-25C>G) | gnomAD v4 |
| 2 | g.26465054G>T | CA2658234026 | OTOF | c.4800-25C>A (n.4800-25C>A) c.2499-25C>A (n.2499-25C>A) c.2559-25C>A (n.2559-25C>A) c.2730-25C>A (n.2730-25C>A) n.549-25C>A c.4785-25C>A (n.4785-25C>A) c.4845-25C>A (n.4845-25C>A) c.4740-25C>A (n.4740-25C>A) | gnomAD v4 |
| 2 | g.26465056A= | CA1239816171 | OTOF | c.4800-27T= (n.4800-27T=) c.2499-27T= (n.2499-27T=) c.2559-27T= (n.2559-27T=) c.2730-27T= (n.2730-27T=) n.549-27T= c.4785-27T= (n.4785-27T=) c.4845-27T= (n.4845-27T=) c.4740-27T= (n.4740-27T=) | |
| 2 | g.26465056A>G | CA1239816172 | OTOF | c.4800-27T>C (n.4800-27T>C) c.2499-27T>C (n.2499-27T>C) c.2559-27T>C (n.2559-27T>C) c.2730-27T>C (n.2730-27T>C) n.549-27T>C c.4785-27T>C (n.4785-27T>C) c.4845-27T>C (n.4845-27T>C) c.4740-27T>C (n.4740-27T>C) | dbSNP gnomAD v4 |
| 2 | g.26465056A>T | CA2658234027 | OTOF | c.4800-27T>A (n.4800-27T>A) c.2499-27T>A (n.2499-27T>A) c.2559-27T>A (n.2559-27T>A) c.2730-27T>A (n.2730-27T>A) n.549-27T>A c.4785-27T>A (n.4785-27T>A) c.4845-27T>A (n.4845-27T>A) c.4740-27T>A (n.4740-27T>A) | gnomAD v4 |