Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.71807615_71807627del | CA645559624 | CDH23 | c.8408_8420del (p.Val2803AlafsTer30) c.2341_2353del (n.2341_2353del) c.2005_2017del (n.2005_2017del) c.8423_8435del (p.Val2808AlafsTer30) c.1688_1700del (p.Val563AlafsTer30) n.1944_1956del c.8603_8615del (p.Val2868AlafsTer30) c.8537_8549del (p.Val2846AlafsTer30) c.8600_8612del (p.Val2867AlafsTer30) c.8597_8609del (p.Val2866AlafsTer30) c.8543_8555del (p.Val2848AlafsTer30) c.8513_8525del (p.Val2838AlafsTer30) c.8468_8480del (p.Val2823AlafsTer30) c.8063_8075del (p.Val2688AlafsTer30) c.7421_7433del (p.Val2474AlafsTer30) c.4931_4943del (p.Val1644AlafsTer30) | COSMIC |
10 | g.71807619G>A | CA470282460 | CDH23 | c.8412G>A (p.Lys2804=) c.2345G>A (n.2345G>A) c.2009G>A (n.2009G>A) c.8427G>A (p.Lys2809=) c.1692G>A (p.Lys564=) n.1948G>A c.8607G>A (p.Lys2869=) c.8541G>A (p.Lys2847=) c.8604G>A (p.Lys2868=) c.8601G>A (p.Lys2867=) c.8547G>A (p.Lys2849=) c.8517G>A (p.Lys2839=) c.8472G>A (p.Lys2824=) c.8067G>A (p.Lys2689=) c.7425G>A (p.Lys2475=) c.4935G>A (p.Lys1645=) | |
10 | g.71807619G>C | CA377131490 | CDH23 | c.8412G>C (p.Lys2804Asn) c.2345G>C (n.2345G>C) c.2009G>C (n.2009G>C) c.8427G>C (p.Lys2809Asn) c.1692G>C (p.Lys564Asn) n.1948G>C c.8607G>C (p.Lys2869Asn) c.8541G>C (p.Lys2847Asn) c.8604G>C (p.Lys2868Asn) c.8601G>C (p.Lys2867Asn) c.8547G>C (p.Lys2849Asn) c.8517G>C (p.Lys2839Asn) c.8472G>C (p.Lys2824Asn) c.8067G>C (p.Lys2689Asn) c.7425G>C (p.Lys2475Asn) c.4935G>C (p.Lys1645Asn) | |
10 | g.71807619G>T | CA377131491 | CDH23 | c.8412G>T (p.Lys2804Asn) c.2345G>T (n.2345G>T) c.2009G>T (n.2009G>T) c.8427G>T (p.Lys2809Asn) c.1692G>T (p.Lys564Asn) n.1948G>T c.8607G>T (p.Lys2869Asn) c.8541G>T (p.Lys2847Asn) c.8604G>T (p.Lys2868Asn) c.8601G>T (p.Lys2867Asn) c.8547G>T (p.Lys2849Asn) c.8517G>T (p.Lys2839Asn) c.8472G>T (p.Lys2824Asn) c.8067G>T (p.Lys2689Asn) c.7425G>T (p.Lys2475Asn) c.4935G>T (p.Lys1645Asn) | |
10 | g.71807620G>A | CA377131492 | CDH23 | c.8413G>A (p.Ala2805Thr) c.2346G>A (n.2346G>A) c.2010G>A (n.2010G>A) c.8428G>A (p.Ala2810Thr) c.1693G>A (p.Ala565Thr) n.1949G>A c.8608G>A (p.Ala2870Thr) c.8542G>A (p.Ala2848Thr) c.8605G>A (p.Ala2869Thr) c.8602G>A (p.Ala2868Thr) c.8548G>A (p.Ala2850Thr) c.8518G>A (p.Ala2840Thr) c.8473G>A (p.Ala2825Thr) c.8068G>A (p.Ala2690Thr) c.7426G>A (p.Ala2476Thr) c.4936G>A (p.Ala1646Thr) | |
10 | g.71807620G>C | CA377131493 | CDH23 | c.8413G>C (p.Ala2805Pro) c.2346G>C (n.2346G>C) c.2010G>C (n.2010G>C) c.8428G>C (p.Ala2810Pro) c.1693G>C (p.Ala565Pro) n.1949G>C c.8608G>C (p.Ala2870Pro) c.8542G>C (p.Ala2848Pro) c.8605G>C (p.Ala2869Pro) c.8602G>C (p.Ala2868Pro) c.8548G>C (p.Ala2850Pro) c.8518G>C (p.Ala2840Pro) c.8473G>C (p.Ala2825Pro) c.8068G>C (p.Ala2690Pro) c.7426G>C (p.Ala2476Pro) c.4936G>C (p.Ala1646Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.71807620G= | CA1918886558 | CDH23 | c.8413G= (p.Ala2805=) c.2346G= (n.2346G=) c.2010G= (n.2010G=) c.8428G= (p.Ala2810=) c.1693G= (p.Ala565=) n.1949G= c.8608G= (p.Ala2870=) c.8542G= (p.Ala2848=) c.8605G= (p.Ala2869=) c.8602G= (p.Ala2868=) c.8548G= (p.Ala2850=) c.8518G= (p.Ala2840=) c.8473G= (p.Ala2825=) c.8068G= (p.Ala2690=) c.7426G= (p.Ala2476=) c.4936G= (p.Ala1646=) | |
10 | g.71807620G>T | CA377131494 | CDH23 | c.8413G>T (p.Ala2805Ser) c.2346G>T (n.2346G>T) c.2010G>T (n.2010G>T) c.8428G>T (p.Ala2810Ser) c.1693G>T (p.Ala565Ser) n.1949G>T c.8608G>T (p.Ala2870Ser) c.8542G>T (p.Ala2848Ser) c.8605G>T (p.Ala2869Ser) c.8602G>T (p.Ala2868Ser) c.8548G>T (p.Ala2850Ser) c.8518G>T (p.Ala2840Ser) c.8473G>T (p.Ala2825Ser) c.8068G>T (p.Ala2690Ser) c.7426G>T (p.Ala2476Ser) c.4936G>T (p.Ala1646Ser) | |
10 | g.71807621C>A | CA377131497 | CDH23 | c.8414C>A (p.Ala2805Asp) c.2347C>A (n.2347C>A) c.2011C>A (n.2011C>A) c.8429C>A (p.Ala2810Asp) c.1694C>A (p.Ala565Asp) n.1950C>A c.8609C>A (p.Ala2870Asp) c.8543C>A (p.Ala2848Asp) c.8606C>A (p.Ala2869Asp) c.8603C>A (p.Ala2868Asp) c.8549C>A (p.Ala2850Asp) c.8519C>A (p.Ala2840Asp) c.8474C>A (p.Ala2825Asp) c.8069C>A (p.Ala2690Asp) c.7427C>A (p.Ala2476Asp) c.4937C>A (p.Ala1646Asp) | dbSNP |
10 | g.71807621C>G | CA377131496 | CDH23 | c.8414C>G (p.Ala2805Gly) c.2347C>G (n.2347C>G) c.2011C>G (n.2011C>G) c.8429C>G (p.Ala2810Gly) c.1694C>G (p.Ala565Gly) n.1950C>G c.8609C>G (p.Ala2870Gly) c.8543C>G (p.Ala2848Gly) c.8606C>G (p.Ala2869Gly) c.8603C>G (p.Ala2868Gly) c.8549C>G (p.Ala2850Gly) c.8519C>G (p.Ala2840Gly) c.8474C>G (p.Ala2825Gly) c.8069C>G (p.Ala2690Gly) c.7427C>G (p.Ala2476Gly) c.4937C>G (p.Ala1646Gly) | dbSNP |
10 | g.71807621C>T | CA377131495 | CDH23 | c.8414C>T (p.Ala2805Val) c.2347C>T (n.2347C>T) c.2011C>T (n.2011C>T) c.8429C>T (p.Ala2810Val) c.1694C>T (p.Ala565Val) n.1950C>T c.8609C>T (p.Ala2870Val) c.8543C>T (p.Ala2848Val) c.8606C>T (p.Ala2869Val) c.8603C>T (p.Ala2868Val) c.8549C>T (p.Ala2850Val) c.8519C>T (p.Ala2840Val) c.8474C>T (p.Ala2825Val) c.8069C>T (p.Ala2690Val) c.7427C>T (p.Ala2476Val) c.4937C>T (p.Ala1646Val) | |
10 | g.71807622C>A | CA470282464 | CDH23 | c.8415C>A (p.Ala2805=) c.2348C>A (n.2348C>A) c.2012C>A (n.2012C>A) c.8430C>A (p.Ala2810=) c.1695C>A (p.Ala565=) n.1951C>A c.8610C>A (p.Ala2870=) c.8544C>A (p.Ala2848=) c.8607C>A (p.Ala2869=) c.8604C>A (p.Ala2868=) c.8550C>A (p.Ala2850=) c.8520C>A (p.Ala2840=) c.8475C>A (p.Ala2825=) c.8070C>A (p.Ala2690=) c.7428C>A (p.Ala2476=) c.4938C>A (p.Ala1646=) | dbSNP |
10 | g.71807622C= | CA1918886559 | CDH23 | c.8415C= (p.Ala2805=) c.2348C= (n.2348C=) c.2012C= (n.2012C=) c.8430C= (p.Ala2810=) c.1695C= (p.Ala565=) n.1951C= c.8610C= (p.Ala2870=) c.8544C= (p.Ala2848=) c.8607C= (p.Ala2869=) c.8604C= (p.Ala2868=) c.8550C= (p.Ala2850=) c.8520C= (p.Ala2840=) c.8475C= (p.Ala2825=) c.8070C= (p.Ala2690=) c.7428C= (p.Ala2476=) c.4938C= (p.Ala1646=) | |
10 | g.71807622C>G | CA470282466 | CDH23 | c.8415C>G (p.Ala2805=) c.2348C>G (n.2348C>G) c.2012C>G (n.2012C>G) c.8430C>G (p.Ala2810=) c.1695C>G (p.Ala565=) n.1951C>G c.8610C>G (p.Ala2870=) c.8544C>G (p.Ala2848=) c.8607C>G (p.Ala2869=) c.8604C>G (p.Ala2868=) c.8550C>G (p.Ala2850=) c.8520C>G (p.Ala2840=) c.8475C>G (p.Ala2825=) c.8070C>G (p.Ala2690=) c.7428C>G (p.Ala2476=) c.4938C>G (p.Ala1646=) | |
10 | g.71807622C>T | CA470282468 | CDH23 | c.8415C>T (p.Ala2805=) c.2348C>T (n.2348C>T) c.2012C>T (n.2012C>T) c.8430C>T (p.Ala2810=) c.1695C>T (p.Ala565=) n.1951C>T c.8610C>T (p.Ala2870=) c.8544C>T (p.Ala2848=) c.8607C>T (p.Ala2869=) c.8604C>T (p.Ala2868=) c.8550C>T (p.Ala2850=) c.8520C>T (p.Ala2840=) c.8475C>T (p.Ala2825=) c.8070C>T (p.Ala2690=) c.7428C>T (p.Ala2476=) c.4938C>T (p.Ala1646=) | |
10 | g.71807623T>A | CA209437115 | CDH23 | c.8416T>A (p.Ser2806Thr) c.2349T>A (n.2349T>A) c.2013T>A (n.2013T>A) c.8431T>A (p.Ser2811Thr) c.1696T>A (p.Ser566Thr) n.1952T>A c.8611T>A (p.Ser2871Thr) c.8545T>A (p.Ser2849Thr) c.8608T>A (p.Ser2870Thr) c.8605T>A (p.Ser2869Thr) c.8551T>A (p.Ser2851Thr) c.8521T>A (p.Ser2841Thr) c.8476T>A (p.Ser2826Thr) c.8071T>A (p.Ser2691Thr) c.7429T>A (p.Ser2477Thr) c.4939T>A (p.Ser1647Thr) | ClinVar dbSNP |
10 | g.71807623T>C | CA377131498 | CDH23 | c.8416T>C (p.Ser2806Pro) c.2349T>C (n.2349T>C) c.2013T>C (n.2013T>C) c.8431T>C (p.Ser2811Pro) c.1696T>C (p.Ser566Pro) n.1952T>C c.8611T>C (p.Ser2871Pro) c.8545T>C (p.Ser2849Pro) c.8608T>C (p.Ser2870Pro) c.8605T>C (p.Ser2869Pro) c.8551T>C (p.Ser2851Pro) c.8521T>C (p.Ser2841Pro) c.8476T>C (p.Ser2826Pro) c.8071T>C (p.Ser2691Pro) c.7429T>C (p.Ser2477Pro) c.4939T>C (p.Ser1647Pro) | |
10 | g.71807623T>G | CA377131499 | CDH23 | c.8416T>G (p.Ser2806Ala) c.2349T>G (n.2349T>G) c.2013T>G (n.2013T>G) c.8431T>G (p.Ser2811Ala) c.1696T>G (p.Ser566Ala) n.1952T>G c.8611T>G (p.Ser2871Ala) c.8545T>G (p.Ser2849Ala) c.8608T>G (p.Ser2870Ala) c.8605T>G (p.Ser2869Ala) c.8551T>G (p.Ser2851Ala) c.8521T>G (p.Ser2841Ala) c.8476T>G (p.Ser2826Ala) c.8071T>G (p.Ser2691Ala) c.7429T>G (p.Ser2477Ala) c.4939T>G (p.Ser1647Ala) | |
10 | g.71807623T= | CA1918886561 | CDH23 | c.8416T= (p.Ser2806=) c.2349T= (n.2349T=) c.2013T= (n.2013T=) c.8431T= (p.Ser2811=) c.1696T= (p.Ser566=) n.1952T= c.8611T= (p.Ser2871=) c.8545T= (p.Ser2849=) c.8608T= (p.Ser2870=) c.8605T= (p.Ser2869=) c.8551T= (p.Ser2851=) c.8521T= (p.Ser2841=) c.8476T= (p.Ser2826=) c.8071T= (p.Ser2691=) c.7429T= (p.Ser2477=) c.4939T= (p.Ser1647=) | |
10 | g.71807624C>A | CA377131500 | CDH23 | c.8417C>A (p.Ser2806Tyr) c.2350C>A (n.2350C>A) c.2014C>A (n.2014C>A) c.8432C>A (p.Ser2811Tyr) c.1697C>A (p.Ser566Tyr) n.1953C>A c.8612C>A (p.Ser2871Tyr) c.8546C>A (p.Ser2849Tyr) c.8609C>A (p.Ser2870Tyr) c.8606C>A (p.Ser2869Tyr) c.8552C>A (p.Ser2851Tyr) c.8522C>A (p.Ser2841Tyr) c.8477C>A (p.Ser2826Tyr) c.8072C>A (p.Ser2691Tyr) c.7430C>A (p.Ser2477Tyr) c.4940C>A (p.Ser1647Tyr) | COSMIC |
10 | g.71807624C>G | CA377131501 | CDH23 | c.8417C>G (p.Ser2806Cys) c.2350C>G (n.2350C>G) c.2014C>G (n.2014C>G) c.8432C>G (p.Ser2811Cys) c.1697C>G (p.Ser566Cys) n.1953C>G c.8612C>G (p.Ser2871Cys) c.8546C>G (p.Ser2849Cys) c.8609C>G (p.Ser2870Cys) c.8606C>G (p.Ser2869Cys) c.8552C>G (p.Ser2851Cys) c.8522C>G (p.Ser2841Cys) c.8477C>G (p.Ser2826Cys) c.8072C>G (p.Ser2691Cys) c.7430C>G (p.Ser2477Cys) c.4940C>G (p.Ser1647Cys) | |
10 | g.71807624C>T | CA377131502 | CDH23 | c.8417C>T (p.Ser2806Phe) c.2350C>T (n.2350C>T) c.2014C>T (n.2014C>T) c.8432C>T (p.Ser2811Phe) c.1697C>T (p.Ser566Phe) n.1953C>T c.8612C>T (p.Ser2871Phe) c.8546C>T (p.Ser2849Phe) c.8609C>T (p.Ser2870Phe) c.8606C>T (p.Ser2869Phe) c.8552C>T (p.Ser2851Phe) c.8522C>T (p.Ser2841Phe) c.8477C>T (p.Ser2826Phe) c.8072C>T (p.Ser2691Phe) c.7430C>T (p.Ser2477Phe) c.4940C>T (p.Ser1647Phe) | |
10 | g.71807625C>A | CA470282469 | CDH23 | c.8418C>A (p.Ser2806=) c.2351C>A (n.2351C>A) c.2015C>A (n.2015C>A) c.8433C>A (p.Ser2811=) c.1698C>A (p.Ser566=) n.1954C>A c.8613C>A (p.Ser2871=) c.8547C>A (p.Ser2849=) c.8610C>A (p.Ser2870=) c.8607C>A (p.Ser2869=) c.8553C>A (p.Ser2851=) c.8523C>A (p.Ser2841=) c.8478C>A (p.Ser2826=) c.8073C>A (p.Ser2691=) c.7431C>A (p.Ser2477=) c.4941C>A (p.Ser1647=) | |
10 | g.71807625C>G | CA470282473 | CDH23 | c.8418C>G (p.Ser2806=) c.2351C>G (n.2351C>G) c.2015C>G (n.2015C>G) c.8433C>G (p.Ser2811=) c.1698C>G (p.Ser566=) n.1954C>G c.8613C>G (p.Ser2871=) c.8547C>G (p.Ser2849=) c.8610C>G (p.Ser2870=) c.8607C>G (p.Ser2869=) c.8553C>G (p.Ser2851=) c.8523C>G (p.Ser2841=) c.8478C>G (p.Ser2826=) c.8073C>G (p.Ser2691=) c.7431C>G (p.Ser2477=) c.4941C>G (p.Ser1647=) | |
10 | g.71807625C>T | CA470282471 | CDH23 | c.8418C>T (p.Ser2806=) c.2351C>T (n.2351C>T) c.2015C>T (n.2015C>T) c.8433C>T (p.Ser2811=) c.1698C>T (p.Ser566=) n.1954C>T c.8613C>T (p.Ser2871=) c.8547C>T (p.Ser2849=) c.8610C>T (p.Ser2870=) c.8607C>T (p.Ser2869=) c.8553C>T (p.Ser2851=) c.8523C>T (p.Ser2841=) c.8478C>T (p.Ser2826=) c.8073C>T (p.Ser2691=) c.7431C>T (p.Ser2477=) c.4941C>T (p.Ser1647=) | |
10 | g.71807626A>C | CA377131503 | CDH23 | c.8419A>C (p.Ser2807Arg) c.2352A>C (n.2352A>C) c.2016A>C (n.2016A>C) c.8434A>C (p.Ser2812Arg) c.1699A>C (p.Ser567Arg) n.1955A>C c.8614A>C (p.Ser2872Arg) c.8548A>C (p.Ser2850Arg) c.8611A>C (p.Ser2871Arg) c.8608A>C (p.Ser2870Arg) c.8554A>C (p.Ser2852Arg) c.8524A>C (p.Ser2842Arg) c.8479A>C (p.Ser2827Arg) c.8074A>C (p.Ser2692Arg) c.7432A>C (p.Ser2478Arg) c.4942A>C (p.Ser1648Arg) | |
10 | g.71807626A>G | CA377131505 | CDH23 | c.8419A>G (p.Ser2807Gly) c.2352A>G (n.2352A>G) c.2016A>G (n.2016A>G) c.8434A>G (p.Ser2812Gly) c.1699A>G (p.Ser567Gly) n.1955A>G c.8614A>G (p.Ser2872Gly) c.8548A>G (p.Ser2850Gly) c.8611A>G (p.Ser2871Gly) c.8608A>G (p.Ser2870Gly) c.8554A>G (p.Ser2852Gly) c.8524A>G (p.Ser2842Gly) c.8479A>G (p.Ser2827Gly) c.8074A>G (p.Ser2692Gly) c.7432A>G (p.Ser2478Gly) c.4942A>G (p.Ser1648Gly) | |
10 | g.71807626A>T | CA377131504 | CDH23 | c.8419A>T (p.Ser2807Cys) c.2352A>T (n.2352A>T) c.2016A>T (n.2016A>T) c.8434A>T (p.Ser2812Cys) c.1699A>T (p.Ser567Cys) n.1955A>T c.8614A>T (p.Ser2872Cys) c.8548A>T (p.Ser2850Cys) c.8611A>T (p.Ser2871Cys) c.8608A>T (p.Ser2870Cys) c.8554A>T (p.Ser2852Cys) c.8524A>T (p.Ser2842Cys) c.8479A>T (p.Ser2827Cys) c.8074A>T (p.Ser2692Cys) c.7432A>T (p.Ser2478Cys) c.4942A>T (p.Ser1648Cys) | |
10 | g.71807627G>A | CA377131506 | CDH23 | c.8420G>A (p.Ser2807Asn) c.2353G>A (n.2353G>A) c.2017G>A (n.2017G>A) c.8435G>A (p.Ser2812Asn) c.1700G>A (p.Ser567Asn) n.1956G>A c.8615G>A (p.Ser2872Asn) c.8549G>A (p.Ser2850Asn) c.8612G>A (p.Ser2871Asn) c.8609G>A (p.Ser2870Asn) c.8555G>A (p.Ser2852Asn) c.8525G>A (p.Ser2842Asn) c.8480G>A (p.Ser2827Asn) c.8075G>A (p.Ser2692Asn) c.7433G>A (p.Ser2478Asn) c.4943G>A (p.Ser1648Asn) | ClinVar dbSNP |
10 | g.71807627G>C | CA377131507 | CDH23 | c.8420G>C (p.Ser2807Thr) c.2353G>C (n.2353G>C) c.2017G>C (n.2017G>C) c.8435G>C (p.Ser2812Thr) c.1700G>C (p.Ser567Thr) n.1956G>C c.8615G>C (p.Ser2872Thr) c.8549G>C (p.Ser2850Thr) c.8612G>C (p.Ser2871Thr) c.8609G>C (p.Ser2870Thr) c.8555G>C (p.Ser2852Thr) c.8525G>C (p.Ser2842Thr) c.8480G>C (p.Ser2827Thr) c.8075G>C (p.Ser2692Thr) c.7433G>C (p.Ser2478Thr) c.4943G>C (p.Ser1648Thr) | |
10 | g.71807627G= | CA1918886562 | CDH23 | c.8420G= (p.Ser2807=) c.2353G= (n.2353G=) c.2017G= (n.2017G=) c.8435G= (p.Ser2812=) c.1700G= (p.Ser567=) n.1956G= c.8615G= (p.Ser2872=) c.8549G= (p.Ser2850=) c.8612G= (p.Ser2871=) c.8609G= (p.Ser2870=) c.8555G= (p.Ser2852=) c.8525G= (p.Ser2842=) c.8480G= (p.Ser2827=) c.8075G= (p.Ser2692=) c.7433G= (p.Ser2478=) c.4943G= (p.Ser1648=) | |
10 | g.71807627G>T | CA377131508 | CDH23 | c.8420G>T (p.Ser2807Ile) c.2353G>T (n.2353G>T) c.2017G>T (n.2017G>T) c.8435G>T (p.Ser2812Ile) c.1700G>T (p.Ser567Ile) n.1956G>T c.8615G>T (p.Ser2872Ile) c.8549G>T (p.Ser2850Ile) c.8612G>T (p.Ser2871Ile) c.8609G>T (p.Ser2870Ile) c.8555G>T (p.Ser2852Ile) c.8525G>T (p.Ser2842Ile) c.8480G>T (p.Ser2827Ile) c.8075G>T (p.Ser2692Ile) c.7433G>T (p.Ser2478Ile) c.4943G>T (p.Ser1648Ile) | COSMIC |
10 | g.71807628C>A | CA377131509 | CDH23 | c.8421C>A (p.Ser2807Arg) c.2354C>A (n.2354C>A) c.2018C>A (n.2018C>A) c.8436C>A (p.Ser2812Arg) c.1701C>A (p.Ser567Arg) n.1957C>A c.8616C>A (p.Ser2872Arg) c.8550C>A (p.Ser2850Arg) c.8613C>A (p.Ser2871Arg) c.8610C>A (p.Ser2870Arg) c.8556C>A (p.Ser2852Arg) c.8526C>A (p.Ser2842Arg) c.8481C>A (p.Ser2827Arg) c.8076C>A (p.Ser2692Arg) c.7434C>A (p.Ser2478Arg) c.4944C>A (p.Ser1648Arg) | |
10 | g.71807628C= | CA1918886565 | CDH23 | c.8421C= (p.Ser2807=) c.2354C= (n.2354C=) c.2018C= (n.2018C=) c.8436C= (p.Ser2812=) c.1701C= (p.Ser567=) n.1957C= c.8616C= (p.Ser2872=) c.8550C= (p.Ser2850=) c.8613C= (p.Ser2871=) c.8610C= (p.Ser2870=) c.8556C= (p.Ser2852=) c.8526C= (p.Ser2842=) c.8481C= (p.Ser2827=) c.8076C= (p.Ser2692=) c.7434C= (p.Ser2478=) c.4944C= (p.Ser1648=) | |
10 | g.71807628C>G | CA377131510 | CDH23 | c.8421C>G (p.Ser2807Arg) c.2354C>G (n.2354C>G) c.2018C>G (n.2018C>G) c.8436C>G (p.Ser2812Arg) c.1701C>G (p.Ser567Arg) n.1957C>G c.8616C>G (p.Ser2872Arg) c.8550C>G (p.Ser2850Arg) c.8613C>G (p.Ser2871Arg) c.8610C>G (p.Ser2870Arg) c.8556C>G (p.Ser2852Arg) c.8526C>G (p.Ser2842Arg) c.8481C>G (p.Ser2827Arg) c.8076C>G (p.Ser2692Arg) c.7434C>G (p.Ser2478Arg) c.4944C>G (p.Ser1648Arg) | |
10 | g.71807628C>T | CA5546648 | CDH23 | c.8421C>T (p.Ser2807=) c.2354C>T (n.2354C>T) c.2018C>T (n.2018C>T) c.8436C>T (p.Ser2812=) c.1701C>T (p.Ser567=) n.1957C>T c.8616C>T (p.Ser2872=) c.8550C>T (p.Ser2850=) c.8613C>T (p.Ser2871=) c.8610C>T (p.Ser2870=) c.8556C>T (p.Ser2852=) c.8526C>T (p.Ser2842=) c.8481C>T (p.Ser2827=) c.8076C>T (p.Ser2692=) c.7434C>T (p.Ser2478=) c.4944C>T (p.Ser1648=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71807629A>C | CA377131511 | CDH23 | c.8422A>C (p.Asn2808His) c.2355A>C (n.2355A>C) c.2019A>C (n.2019A>C) c.8437A>C (p.Asn2813His) c.1702A>C (p.Asn568His) n.1958A>C c.8617A>C (p.Asn2873His) c.8551A>C (p.Asn2851His) c.8614A>C (p.Asn2872His) c.8611A>C (p.Asn2871His) c.8557A>C (p.Asn2853His) c.8527A>C (p.Asn2843His) c.8482A>C (p.Asn2828His) c.8077A>C (p.Asn2693His) c.7435A>C (p.Asn2479His) c.4945A>C (p.Asn1649His) | |
10 | g.71807629A>G | CA377131512 | CDH23 | c.8422A>G (p.Asn2808Asp) c.2355A>G (n.2355A>G) c.2019A>G (n.2019A>G) c.8437A>G (p.Asn2813Asp) c.1702A>G (p.Asn568Asp) n.1958A>G c.8617A>G (p.Asn2873Asp) c.8551A>G (p.Asn2851Asp) c.8614A>G (p.Asn2872Asp) c.8611A>G (p.Asn2871Asp) c.8557A>G (p.Asn2853Asp) c.8527A>G (p.Asn2843Asp) c.8482A>G (p.Asn2828Asp) c.8077A>G (p.Asn2693Asp) c.7435A>G (p.Asn2479Asp) c.4945A>G (p.Asn1649Asp) | |
10 | g.71807629A>T | CA377131513 | CDH23 | c.8422A>T (p.Asn2808Tyr) c.2355A>T (n.2355A>T) c.2019A>T (n.2019A>T) c.8437A>T (p.Asn2813Tyr) c.1702A>T (p.Asn568Tyr) n.1958A>T c.8617A>T (p.Asn2873Tyr) c.8551A>T (p.Asn2851Tyr) c.8614A>T (p.Asn2872Tyr) c.8611A>T (p.Asn2871Tyr) c.8557A>T (p.Asn2853Tyr) c.8527A>T (p.Asn2843Tyr) c.8482A>T (p.Asn2828Tyr) c.8077A>T (p.Asn2693Tyr) c.7435A>T (p.Asn2479Tyr) c.4945A>T (p.Asn1649Tyr) | |
10 | g.71807630A>C | CA377131514 | CDH23 | c.8423A>C (p.Asn2808Thr) c.2356A>C (n.2356A>C) c.2020A>C (n.2020A>C) c.8438A>C (p.Asn2813Thr) c.1703A>C (p.Asn568Thr) n.1959A>C c.8618A>C (p.Asn2873Thr) c.8552A>C (p.Asn2851Thr) c.8615A>C (p.Asn2872Thr) c.8612A>C (p.Asn2871Thr) c.8558A>C (p.Asn2853Thr) c.8528A>C (p.Asn2843Thr) c.8483A>C (p.Asn2828Thr) c.8078A>C (p.Asn2693Thr) c.7436A>C (p.Asn2479Thr) c.4946A>C (p.Asn1649Thr) | dbSNP |
10 | g.71807630A>G | CA377131515 | CDH23 | c.8423A>G (p.Asn2808Ser) c.2356A>G (n.2356A>G) c.2020A>G (n.2020A>G) c.8438A>G (p.Asn2813Ser) c.1703A>G (p.Asn568Ser) n.1959A>G c.8618A>G (p.Asn2873Ser) c.8552A>G (p.Asn2851Ser) c.8615A>G (p.Asn2872Ser) c.8612A>G (p.Asn2871Ser) c.8558A>G (p.Asn2853Ser) c.8528A>G (p.Asn2843Ser) c.8483A>G (p.Asn2828Ser) c.8078A>G (p.Asn2693Ser) c.7436A>G (p.Asn2479Ser) c.4946A>G (p.Asn1649Ser) | |
10 | g.71807630A>T | CA377131516 | CDH23 | c.8423A>T (p.Asn2808Ile) c.2356A>T (n.2356A>T) c.2020A>T (n.2020A>T) c.8438A>T (p.Asn2813Ile) c.1703A>T (p.Asn568Ile) n.1959A>T c.8618A>T (p.Asn2873Ile) c.8552A>T (p.Asn2851Ile) c.8615A>T (p.Asn2872Ile) c.8612A>T (p.Asn2871Ile) c.8558A>T (p.Asn2853Ile) c.8528A>T (p.Asn2843Ile) c.8483A>T (p.Asn2828Ile) c.8078A>T (p.Asn2693Ile) c.7436A>T (p.Asn2479Ile) c.4946A>T (p.Asn1649Ile) | |
10 | g.71807631T>A | CA377131518 | CDH23 | c.8424T>A (p.Asn2808Lys) c.2357T>A (n.2357T>A) c.2021T>A (n.2021T>A) c.8439T>A (p.Asn2813Lys) c.1704T>A (p.Asn568Lys) n.1960T>A c.8619T>A (p.Asn2873Lys) c.8553T>A (p.Asn2851Lys) c.8616T>A (p.Asn2872Lys) c.8613T>A (p.Asn2871Lys) c.8559T>A (p.Asn2853Lys) c.8529T>A (p.Asn2843Lys) c.8484T>A (p.Asn2828Lys) c.8079T>A (p.Asn2693Lys) c.7437T>A (p.Asn2479Lys) c.4947T>A (p.Asn1649Lys) | |
10 | g.71807631T>C | CA470282478 | CDH23 | c.8424T>C (p.Asn2808=) c.2357T>C (n.2357T>C) c.2021T>C (n.2021T>C) c.8439T>C (p.Asn2813=) c.1704T>C (p.Asn568=) n.1960T>C c.8619T>C (p.Asn2873=) c.8553T>C (p.Asn2851=) c.8616T>C (p.Asn2872=) c.8613T>C (p.Asn2871=) c.8559T>C (p.Asn2853=) c.8529T>C (p.Asn2843=) c.8484T>C (p.Asn2828=) c.8079T>C (p.Asn2693=) c.7437T>C (p.Asn2479=) c.4947T>C (p.Asn1649=) | |
10 | g.71807631T>G | CA377131517 | CDH23 | c.8424T>G (p.Asn2808Lys) c.2357T>G (n.2357T>G) c.2021T>G (n.2021T>G) c.8439T>G (p.Asn2813Lys) c.1704T>G (p.Asn568Lys) n.1960T>G c.8619T>G (p.Asn2873Lys) c.8553T>G (p.Asn2851Lys) c.8616T>G (p.Asn2872Lys) c.8613T>G (p.Asn2871Lys) c.8559T>G (p.Asn2853Lys) c.8529T>G (p.Asn2843Lys) c.8484T>G (p.Asn2828Lys) c.8079T>G (p.Asn2693Lys) c.7437T>G (p.Asn2479Lys) c.4947T>G (p.Asn1649Lys) | dbSNP |
10 | g.71807632C>A | CA377131519 | CDH23 | c.8425C>A (p.Arg2809Ser) c.2358C>A (n.2358C>A) c.2022C>A (n.2022C>A) c.8440C>A (p.Arg2814Ser) c.1705C>A (p.Arg569Ser) n.1961C>A c.8620C>A (p.Arg2874Ser) c.8554C>A (p.Arg2852Ser) c.8617C>A (p.Arg2873Ser) c.8614C>A (p.Arg2872Ser) c.8560C>A (p.Arg2854Ser) c.8530C>A (p.Arg2844Ser) c.8485C>A (p.Arg2829Ser) c.8080C>A (p.Arg2694Ser) c.7438C>A (p.Arg2480Ser) c.4948C>A (p.Arg1650Ser) | dbSNP gnomAD v4 |
10 | g.71807632C= | CA1918886568 | CDH23 | c.8425C= (p.Arg2809=) c.2358C= (n.2358C=) c.2022C= (n.2022C=) c.8440C= (p.Arg2814=) c.1705C= (p.Arg569=) n.1961C= c.8620C= (p.Arg2874=) c.8554C= (p.Arg2852=) c.8617C= (p.Arg2873=) c.8614C= (p.Arg2872=) c.8560C= (p.Arg2854=) c.8530C= (p.Arg2844=) c.8485C= (p.Arg2829=) c.8080C= (p.Arg2694=) c.7438C= (p.Arg2480=) c.4948C= (p.Arg1650=) | |
10 | g.71807632C>G | CA377131520 | CDH23 | c.8425C>G (p.Arg2809Gly) c.2358C>G (n.2358C>G) c.2022C>G (n.2022C>G) c.8440C>G (p.Arg2814Gly) c.1705C>G (p.Arg569Gly) n.1961C>G c.8620C>G (p.Arg2874Gly) c.8554C>G (p.Arg2852Gly) c.8617C>G (p.Arg2873Gly) c.8614C>G (p.Arg2872Gly) c.8560C>G (p.Arg2854Gly) c.8530C>G (p.Arg2844Gly) c.8485C>G (p.Arg2829Gly) c.8080C>G (p.Arg2694Gly) c.7438C>G (p.Arg2480Gly) c.4948C>G (p.Arg1650Gly) | |
10 | g.71807632C>T | CA5546649 | CDH23 | c.8425C>T (p.Arg2809Cys) c.2358C>T (n.2358C>T) c.2022C>T (n.2022C>T) c.8440C>T (p.Arg2814Cys) c.1705C>T (p.Arg569Cys) n.1961C>T c.8620C>T (p.Arg2874Cys) c.8554C>T (p.Arg2852Cys) c.8617C>T (p.Arg2873Cys) c.8614C>T (p.Arg2872Cys) c.8560C>T (p.Arg2854Cys) c.8530C>T (p.Arg2844Cys) c.8485C>T (p.Arg2829Cys) c.8080C>T (p.Arg2694Cys) c.7438C>T (p.Arg2480Cys) c.4948C>T (p.Arg1650Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71807633G>A | CA5546650 | CDH23 | c.8426G>A (p.Arg2809His) c.2359G>A (n.2359G>A) c.2023G>A (n.2023G>A) c.8441G>A (p.Arg2814His) c.1706G>A (p.Arg569His) n.1962G>A c.8621G>A (p.Arg2874His) c.8555G>A (p.Arg2852His) c.8618G>A (p.Arg2873His) c.8615G>A (p.Arg2872His) c.8561G>A (p.Arg2854His) c.8531G>A (p.Arg2844His) c.8486G>A (p.Arg2829His) c.8081G>A (p.Arg2694His) c.7439G>A (p.Arg2480His) c.4949G>A (p.Arg1650His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71807633G>C | CA377131521 | CDH23 | c.8426G>C (p.Arg2809Pro) c.2359G>C (n.2359G>C) c.2023G>C (n.2023G>C) c.8441G>C (p.Arg2814Pro) c.1706G>C (p.Arg569Pro) n.1962G>C c.8621G>C (p.Arg2874Pro) c.8555G>C (p.Arg2852Pro) c.8618G>C (p.Arg2873Pro) c.8615G>C (p.Arg2872Pro) c.8561G>C (p.Arg2854Pro) c.8531G>C (p.Arg2844Pro) c.8486G>C (p.Arg2829Pro) c.8081G>C (p.Arg2694Pro) c.7439G>C (p.Arg2480Pro) c.4949G>C (p.Arg1650Pro) | dbSNP |
10 | g.71807633G= | CA1918886570 | CDH23 | c.8426G= (p.Arg2809=) c.2359G= (n.2359G=) c.2023G= (n.2023G=) c.8441G= (p.Arg2814=) c.1706G= (p.Arg569=) n.1962G= c.8621G= (p.Arg2874=) c.8555G= (p.Arg2852=) c.8618G= (p.Arg2873=) c.8615G= (p.Arg2872=) c.8561G= (p.Arg2854=) c.8531G= (p.Arg2844=) c.8486G= (p.Arg2829=) c.8081G= (p.Arg2694=) c.7439G= (p.Arg2480=) c.4949G= (p.Arg1650=) | |
10 | g.71807633G>T | CA377131522 | CDH23 | c.8426G>T (p.Arg2809Leu) c.2359G>T (n.2359G>T) c.2023G>T (n.2023G>T) c.8441G>T (p.Arg2814Leu) c.1706G>T (p.Arg569Leu) n.1962G>T c.8621G>T (p.Arg2874Leu) c.8555G>T (p.Arg2852Leu) c.8618G>T (p.Arg2873Leu) c.8615G>T (p.Arg2872Leu) c.8561G>T (p.Arg2854Leu) c.8531G>T (p.Arg2844Leu) c.8486G>T (p.Arg2829Leu) c.8081G>T (p.Arg2694Leu) c.7439G>T (p.Arg2480Leu) c.4949G>T (p.Arg1650Leu) | |
10 | g.71807634C>A | CA470282481 | CDH23 | c.8427C>A (p.Arg2809=) c.2360C>A (n.2360C>A) c.2024C>A (n.2024C>A) c.8442C>A (p.Arg2814=) c.1707C>A (p.Arg569=) n.1963C>A c.8622C>A (p.Arg2874=) c.8556C>A (p.Arg2852=) c.8619C>A (p.Arg2873=) c.8616C>A (p.Arg2872=) c.8562C>A (p.Arg2854=) c.8532C>A (p.Arg2844=) c.8487C>A (p.Arg2829=) c.8082C>A (p.Arg2694=) c.7440C>A (p.Arg2480=) c.4950C>A (p.Arg1650=) | |
10 | g.71807634C= | CA1918886572 | CDH23 | c.8427C= (p.Arg2809=) c.2360C= (n.2360C=) c.2024C= (n.2024C=) c.8442C= (p.Arg2814=) c.1707C= (p.Arg569=) n.1963C= c.8622C= (p.Arg2874=) c.8556C= (p.Arg2852=) c.8619C= (p.Arg2873=) c.8616C= (p.Arg2872=) c.8562C= (p.Arg2854=) c.8532C= (p.Arg2844=) c.8487C= (p.Arg2829=) c.8082C= (p.Arg2694=) c.7440C= (p.Arg2480=) c.4950C= (p.Arg1650=) | |
10 | g.71807634C>G | CA470282479 | CDH23 | c.8427C>G (p.Arg2809=) c.2360C>G (n.2360C>G) c.2024C>G (n.2024C>G) c.8442C>G (p.Arg2814=) c.1707C>G (p.Arg569=) n.1963C>G c.8622C>G (p.Arg2874=) c.8556C>G (p.Arg2852=) c.8619C>G (p.Arg2873=) c.8616C>G (p.Arg2872=) c.8562C>G (p.Arg2854=) c.8532C>G (p.Arg2844=) c.8487C>G (p.Arg2829=) c.8082C>G (p.Arg2694=) c.7440C>G (p.Arg2480=) c.4950C>G (p.Arg1650=) | |
10 | g.71807634C>T | CA470282480 | CDH23 | c.8427C>T (p.Arg2809=) c.2360C>T (n.2360C>T) c.2024C>T (n.2024C>T) c.8442C>T (p.Arg2814=) c.1707C>T (p.Arg569=) n.1963C>T c.8622C>T (p.Arg2874=) c.8556C>T (p.Arg2852=) c.8619C>T (p.Arg2873=) c.8616C>T (p.Arg2872=) c.8562C>T (p.Arg2854=) c.8532C>T (p.Arg2844=) c.8487C>T (p.Arg2829=) c.8082C>T (p.Arg2694=) c.7440C>T (p.Arg2480=) c.4950C>T (p.Arg1650=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71807635A>C | CA377131523 | CDH23 | c.8428A>C (p.Ser2810Arg) c.2361A>C (n.2361A>C) c.2025A>C (n.2025A>C) c.8443A>C (p.Ser2815Arg) c.1708A>C (p.Ser570Arg) n.1964A>C c.8623A>C (p.Ser2875Arg) c.8557A>C (p.Ser2853Arg) c.8620A>C (p.Ser2874Arg) c.8617A>C (p.Ser2873Arg) c.8563A>C (p.Ser2855Arg) c.8533A>C (p.Ser2845Arg) c.8488A>C (p.Ser2830Arg) c.8083A>C (p.Ser2695Arg) c.7441A>C (p.Ser2481Arg) c.4951A>C (p.Ser1651Arg) | |
10 | g.71807635A>G | CA377131524 | CDH23 | c.8428A>G (p.Ser2810Gly) c.2361A>G (n.2361A>G) c.2025A>G (n.2025A>G) c.8443A>G (p.Ser2815Gly) c.1708A>G (p.Ser570Gly) n.1964A>G c.8623A>G (p.Ser2875Gly) c.8557A>G (p.Ser2853Gly) c.8620A>G (p.Ser2874Gly) c.8617A>G (p.Ser2873Gly) c.8563A>G (p.Ser2855Gly) c.8533A>G (p.Ser2845Gly) c.8488A>G (p.Ser2830Gly) c.8083A>G (p.Ser2695Gly) c.7441A>G (p.Ser2481Gly) c.4951A>G (p.Ser1651Gly) | |
10 | g.71807635A>T | CA377131525 | CDH23 | c.8428A>T (p.Ser2810Cys) c.2361A>T (n.2361A>T) c.2025A>T (n.2025A>T) c.8443A>T (p.Ser2815Cys) c.1708A>T (p.Ser570Cys) n.1964A>T c.8623A>T (p.Ser2875Cys) c.8557A>T (p.Ser2853Cys) c.8620A>T (p.Ser2874Cys) c.8617A>T (p.Ser2873Cys) c.8563A>T (p.Ser2855Cys) c.8533A>T (p.Ser2845Cys) c.8488A>T (p.Ser2830Cys) c.8083A>T (p.Ser2695Cys) c.7441A>T (p.Ser2481Cys) c.4951A>T (p.Ser1651Cys) | |
10 | g.71807636G>A | CA377131526 | CDH23 | c.8429G>A (p.Ser2810Asn) c.2362G>A (n.2362G>A) c.2026G>A (n.2026G>A) c.8444G>A (p.Ser2815Asn) c.1709G>A (p.Ser570Asn) n.1965G>A c.8624G>A (p.Ser2875Asn) c.8558G>A (p.Ser2853Asn) c.8621G>A (p.Ser2874Asn) c.8618G>A (p.Ser2873Asn) c.8564G>A (p.Ser2855Asn) c.8534G>A (p.Ser2845Asn) c.8489G>A (p.Ser2830Asn) c.8084G>A (p.Ser2695Asn) c.7442G>A (p.Ser2481Asn) c.4952G>A (p.Ser1651Asn) | ClinVar dbSNP COSMIC |
10 | g.71807636G>C | CA377131527 | CDH23 | c.8429G>C (p.Ser2810Thr) c.2362G>C (n.2362G>C) c.2026G>C (n.2026G>C) c.8444G>C (p.Ser2815Thr) c.1709G>C (p.Ser570Thr) n.1965G>C c.8624G>C (p.Ser2875Thr) c.8558G>C (p.Ser2853Thr) c.8621G>C (p.Ser2874Thr) c.8618G>C (p.Ser2873Thr) c.8564G>C (p.Ser2855Thr) c.8534G>C (p.Ser2845Thr) c.8489G>C (p.Ser2830Thr) c.8084G>C (p.Ser2695Thr) c.7442G>C (p.Ser2481Thr) c.4952G>C (p.Ser1651Thr) | |
10 | g.71807636G>T | CA377131528 | CDH23 | c.8429G>T (p.Ser2810Ile) c.2362G>T (n.2362G>T) c.2026G>T (n.2026G>T) c.8444G>T (p.Ser2815Ile) c.1709G>T (p.Ser570Ile) n.1965G>T c.8624G>T (p.Ser2875Ile) c.8558G>T (p.Ser2853Ile) c.8621G>T (p.Ser2874Ile) c.8618G>T (p.Ser2873Ile) c.8564G>T (p.Ser2855Ile) c.8534G>T (p.Ser2845Ile) c.8489G>T (p.Ser2830Ile) c.8084G>T (p.Ser2695Ile) c.7442G>T (p.Ser2481Ile) c.4952G>T (p.Ser1651Ile) | |
10 | g.71807637C>A | CA377131529 | CDH23 | c.8430C>A (p.Ser2810Arg) c.2363C>A (n.2363C>A) c.2027C>A (n.2027C>A) c.8445C>A (p.Ser2815Arg) c.1710C>A (p.Ser570Arg) n.1966C>A c.8625C>A (p.Ser2875Arg) c.8559C>A (p.Ser2853Arg) c.8622C>A (p.Ser2874Arg) c.8619C>A (p.Ser2873Arg) c.8565C>A (p.Ser2855Arg) c.8535C>A (p.Ser2845Arg) c.8490C>A (p.Ser2830Arg) c.8085C>A (p.Ser2695Arg) c.7443C>A (p.Ser2481Arg) c.4953C>A (p.Ser1651Arg) | |
10 | g.71807637C>G | CA377131530 | CDH23 | c.8430C>G (p.Ser2810Arg) c.2363C>G (n.2363C>G) c.2027C>G (n.2027C>G) c.8445C>G (p.Ser2815Arg) c.1710C>G (p.Ser570Arg) n.1966C>G c.8625C>G (p.Ser2875Arg) c.8559C>G (p.Ser2853Arg) c.8622C>G (p.Ser2874Arg) c.8619C>G (p.Ser2873Arg) c.8565C>G (p.Ser2855Arg) c.8535C>G (p.Ser2845Arg) c.8490C>G (p.Ser2830Arg) c.8085C>G (p.Ser2695Arg) c.7443C>G (p.Ser2481Arg) c.4953C>G (p.Ser1651Arg) | |
10 | g.71807637C>T | CA470282483 | CDH23 | c.8430C>T (p.Ser2810=) c.2363C>T (n.2363C>T) c.2027C>T (n.2027C>T) c.8445C>T (p.Ser2815=) c.1710C>T (p.Ser570=) n.1966C>T c.8625C>T (p.Ser2875=) c.8559C>T (p.Ser2853=) c.8622C>T (p.Ser2874=) c.8619C>T (p.Ser2873=) c.8565C>T (p.Ser2855=) c.8535C>T (p.Ser2845=) c.8490C>T (p.Ser2830=) c.8085C>T (p.Ser2695=) c.7443C>T (p.Ser2481=) c.4953C>T (p.Ser1651=) | dbSNP |
10 | g.71807638T>A | CA377131533 | CDH23 | c.8431T>A (p.Trp2811Arg) c.2364T>A (n.2364T>A) c.2028T>A (n.2028T>A) c.8446T>A (p.Trp2816Arg) c.1711T>A (p.Trp571Arg) n.1967T>A c.8626T>A (p.Trp2876Arg) c.8560T>A (p.Trp2854Arg) c.8623T>A (p.Trp2875Arg) c.8620T>A (p.Trp2874Arg) c.8566T>A (p.Trp2856Arg) c.8536T>A (p.Trp2846Arg) c.8491T>A (p.Trp2831Arg) c.8086T>A (p.Trp2696Arg) c.7444T>A (p.Trp2482Arg) c.4954T>A (p.Trp1652Arg) | dbSNP |
10 | g.71807638T>C | CA377131532 | CDH23 | c.8431T>C (p.Trp2811Arg) c.2364T>C (n.2364T>C) c.2028T>C (n.2028T>C) c.8446T>C (p.Trp2816Arg) c.1711T>C (p.Trp571Arg) n.1967T>C c.8626T>C (p.Trp2876Arg) c.8560T>C (p.Trp2854Arg) c.8623T>C (p.Trp2875Arg) c.8620T>C (p.Trp2874Arg) c.8566T>C (p.Trp2856Arg) c.8536T>C (p.Trp2846Arg) c.8491T>C (p.Trp2831Arg) c.8086T>C (p.Trp2696Arg) c.7444T>C (p.Trp2482Arg) c.4954T>C (p.Trp1652Arg) | gnomAD v4 |
10 | g.71807638T>G | CA377131531 | CDH23 | c.8431T>G (p.Trp2811Gly) c.2364T>G (n.2364T>G) c.2028T>G (n.2028T>G) c.8446T>G (p.Trp2816Gly) c.1711T>G (p.Trp571Gly) n.1967T>G c.8626T>G (p.Trp2876Gly) c.8560T>G (p.Trp2854Gly) c.8623T>G (p.Trp2875Gly) c.8620T>G (p.Trp2874Gly) c.8566T>G (p.Trp2856Gly) c.8536T>G (p.Trp2846Gly) c.8491T>G (p.Trp2831Gly) c.8086T>G (p.Trp2696Gly) c.7444T>G (p.Trp2482Gly) c.4954T>G (p.Trp1652Gly) | |
10 | g.71807638T= | CA1918886574 | CDH23 | c.8431T= (p.Trp2811=) c.2364T= (n.2364T=) c.2028T= (n.2028T=) c.8446T= (p.Trp2816=) c.1711T= (p.Trp571=) n.1967T= c.8626T= (p.Trp2876=) c.8560T= (p.Trp2854=) c.8623T= (p.Trp2875=) c.8620T= (p.Trp2874=) c.8566T= (p.Trp2856=) c.8536T= (p.Trp2846=) c.8491T= (p.Trp2831=) c.8086T= (p.Trp2696=) c.7444T= (p.Trp2482=) c.4954T= (p.Trp1652=) | |
10 | g.71807639G>A | CA377131534 | CDH23 | c.8432G>A (p.Trp2811Ter) c.2365G>A (n.2365G>A) c.2029G>A (n.2029G>A) c.8447G>A (p.Trp2816Ter) c.1712G>A (p.Trp571Ter) n.1968G>A c.8627G>A (p.Trp2876Ter) c.8561G>A (p.Trp2854Ter) c.8624G>A (p.Trp2875Ter) c.8621G>A (p.Trp2874Ter) c.8567G>A (p.Trp2856Ter) c.8537G>A (p.Trp2846Ter) c.8492G>A (p.Trp2831Ter) c.8087G>A (p.Trp2696Ter) c.7445G>A (p.Trp2482Ter) c.4955G>A (p.Trp1652Ter) | ClinVar dbSNP gnomAD v4 |
10 | g.71807639G>C | CA377131535 | CDH23 | c.8432G>C (p.Trp2811Ser) c.2365G>C (n.2365G>C) c.2029G>C (n.2029G>C) c.8447G>C (p.Trp2816Ser) c.1712G>C (p.Trp571Ser) n.1968G>C c.8627G>C (p.Trp2876Ser) c.8561G>C (p.Trp2854Ser) c.8624G>C (p.Trp2875Ser) c.8621G>C (p.Trp2874Ser) c.8567G>C (p.Trp2856Ser) c.8537G>C (p.Trp2846Ser) c.8492G>C (p.Trp2831Ser) c.8087G>C (p.Trp2696Ser) c.7445G>C (p.Trp2482Ser) c.4955G>C (p.Trp1652Ser) | |
10 | g.71807639G= | CA1918886576 | CDH23 | c.8432G= (p.Trp2811=) c.2365G= (n.2365G=) c.2029G= (n.2029G=) c.8447G= (p.Trp2816=) c.1712G= (p.Trp571=) n.1968G= c.8627G= (p.Trp2876=) c.8561G= (p.Trp2854=) c.8624G= (p.Trp2875=) c.8621G= (p.Trp2874=) c.8567G= (p.Trp2856=) c.8537G= (p.Trp2846=) c.8492G= (p.Trp2831=) c.8087G= (p.Trp2696=) c.7445G= (p.Trp2482=) c.4955G= (p.Trp1652=) | |
10 | g.71807639G>T | CA377131536 | CDH23 | c.8432G>T (p.Trp2811Leu) c.2365G>T (n.2365G>T) c.2029G>T (n.2029G>T) c.8447G>T (p.Trp2816Leu) c.1712G>T (p.Trp571Leu) n.1968G>T c.8627G>T (p.Trp2876Leu) c.8561G>T (p.Trp2854Leu) c.8624G>T (p.Trp2875Leu) c.8621G>T (p.Trp2874Leu) c.8567G>T (p.Trp2856Leu) c.8537G>T (p.Trp2846Leu) c.8492G>T (p.Trp2831Leu) c.8087G>T (p.Trp2696Leu) c.7445G>T (p.Trp2482Leu) c.4955G>T (p.Trp1652Leu) | gnomAD v4 |
10 | g.71807640G>A | CA5546651 | CDH23 | c.8433G>A (p.Trp2811Ter) c.2366G>A (n.2366G>A) c.2030G>A (n.2030G>A) c.8448G>A (p.Trp2816Ter) c.1713G>A (p.Trp571Ter) n.1969G>A c.8628G>A (p.Trp2876Ter) c.8562G>A (p.Trp2854Ter) c.8625G>A (p.Trp2875Ter) c.8622G>A (p.Trp2874Ter) c.8568G>A (p.Trp2856Ter) c.8538G>A (p.Trp2846Ter) c.8493G>A (p.Trp2831Ter) c.8088G>A (p.Trp2696Ter) c.7446G>A (p.Trp2482Ter) c.4956G>A (p.Trp1652Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71807640G>C | CA377131537 | CDH23 | c.8433G>C (p.Trp2811Cys) c.2366G>C (n.2366G>C) c.2030G>C (n.2030G>C) c.8448G>C (p.Trp2816Cys) c.1713G>C (p.Trp571Cys) n.1969G>C c.8628G>C (p.Trp2876Cys) c.8562G>C (p.Trp2854Cys) c.8625G>C (p.Trp2875Cys) c.8622G>C (p.Trp2874Cys) c.8568G>C (p.Trp2856Cys) c.8538G>C (p.Trp2846Cys) c.8493G>C (p.Trp2831Cys) c.8088G>C (p.Trp2696Cys) c.7446G>C (p.Trp2482Cys) c.4956G>C (p.Trp1652Cys) | dbSNP |
10 | g.71807640G= | CA1918886578 | CDH23 | c.8433G= (p.Trp2811=) c.2366G= (n.2366G=) c.2030G= (n.2030G=) c.8448G= (p.Trp2816=) c.1713G= (p.Trp571=) n.1969G= c.8628G= (p.Trp2876=) c.8562G= (p.Trp2854=) c.8625G= (p.Trp2875=) c.8622G= (p.Trp2874=) c.8568G= (p.Trp2856=) c.8538G= (p.Trp2846=) c.8493G= (p.Trp2831=) c.8088G= (p.Trp2696=) c.7446G= (p.Trp2482=) c.4956G= (p.Trp1652=) | |
10 | g.71807640G>T | CA377131538 | CDH23 | c.8433G>T (p.Trp2811Cys) c.2366G>T (n.2366G>T) c.2030G>T (n.2030G>T) c.8448G>T (p.Trp2816Cys) c.1713G>T (p.Trp571Cys) n.1969G>T c.8628G>T (p.Trp2876Cys) c.8562G>T (p.Trp2854Cys) c.8625G>T (p.Trp2875Cys) c.8622G>T (p.Trp2874Cys) c.8568G>T (p.Trp2856Cys) c.8538G>T (p.Trp2846Cys) c.8493G>T (p.Trp2831Cys) c.8088G>T (p.Trp2696Cys) c.7446G>T (p.Trp2482Cys) c.4956G>T (p.Trp1652Cys) | |
10 | g.71807641A>C | CA377131539 | CDH23 | c.8434A>C (p.Thr2812Pro) c.2367A>C (n.2367A>C) c.2031A>C (n.2031A>C) c.8449A>C (p.Thr2817Pro) c.1714A>C (p.Thr572Pro) n.1970A>C c.8629A>C (p.Thr2877Pro) c.8563A>C (p.Thr2855Pro) c.8626A>C (p.Thr2876Pro) c.8623A>C (p.Thr2875Pro) c.8569A>C (p.Thr2857Pro) c.8539A>C (p.Thr2847Pro) c.8494A>C (p.Thr2832Pro) c.8089A>C (p.Thr2697Pro) c.7447A>C (p.Thr2483Pro) c.4957A>C (p.Thr1653Pro) | dbSNP |
10 | g.71807641A>G | CA377131540 | CDH23 | c.8434A>G (p.Thr2812Ala) c.2367A>G (n.2367A>G) c.2031A>G (n.2031A>G) c.8449A>G (p.Thr2817Ala) c.1714A>G (p.Thr572Ala) n.1970A>G c.8629A>G (p.Thr2877Ala) c.8563A>G (p.Thr2855Ala) c.8626A>G (p.Thr2876Ala) c.8623A>G (p.Thr2875Ala) c.8569A>G (p.Thr2857Ala) c.8539A>G (p.Thr2847Ala) c.8494A>G (p.Thr2832Ala) c.8089A>G (p.Thr2697Ala) c.7447A>G (p.Thr2483Ala) c.4957A>G (p.Thr1653Ala) | dbSNP |
10 | g.71807641A>T | CA377131541 | CDH23 | c.8434A>T (p.Thr2812Ser) c.2367A>T (n.2367A>T) c.2031A>T (n.2031A>T) c.8449A>T (p.Thr2817Ser) c.1714A>T (p.Thr572Ser) n.1970A>T c.8629A>T (p.Thr2877Ser) c.8563A>T (p.Thr2855Ser) c.8626A>T (p.Thr2876Ser) c.8623A>T (p.Thr2875Ser) c.8569A>T (p.Thr2857Ser) c.8539A>T (p.Thr2847Ser) c.8494A>T (p.Thr2832Ser) c.8089A>T (p.Thr2697Ser) c.7447A>T (p.Thr2483Ser) c.4957A>T (p.Thr1653Ser) | dbSNP |
10 | g.71807642C>A | CA377131542 | CDH23 | c.8435C>A (p.Thr2812Lys) c.2368C>A (n.2368C>A) c.2032C>A (n.2032C>A) c.8450C>A (p.Thr2817Lys) c.1715C>A (p.Thr572Lys) n.1971C>A c.8630C>A (p.Thr2877Lys) c.8564C>A (p.Thr2855Lys) c.8627C>A (p.Thr2876Lys) c.8624C>A (p.Thr2875Lys) c.8570C>A (p.Thr2857Lys) c.8540C>A (p.Thr2847Lys) c.8495C>A (p.Thr2832Lys) c.8090C>A (p.Thr2697Lys) c.7448C>A (p.Thr2483Lys) c.4958C>A (p.Thr1653Lys) | |
10 | g.71807642C>G | CA377131543 | CDH23 | c.8435C>G (p.Thr2812Arg) c.2368C>G (n.2368C>G) c.2032C>G (n.2032C>G) c.8450C>G (p.Thr2817Arg) c.1715C>G (p.Thr572Arg) n.1971C>G c.8630C>G (p.Thr2877Arg) c.8564C>G (p.Thr2855Arg) c.8627C>G (p.Thr2876Arg) c.8624C>G (p.Thr2875Arg) c.8570C>G (p.Thr2857Arg) c.8540C>G (p.Thr2847Arg) c.8495C>G (p.Thr2832Arg) c.8090C>G (p.Thr2697Arg) c.7448C>G (p.Thr2483Arg) c.4958C>G (p.Thr1653Arg) | |
10 | g.71807642C>T | CA377131544 | CDH23 | c.8435C>T (p.Thr2812Ile) c.2368C>T (n.2368C>T) c.2032C>T (n.2032C>T) c.8450C>T (p.Thr2817Ile) c.1715C>T (p.Thr572Ile) n.1971C>T c.8630C>T (p.Thr2877Ile) c.8564C>T (p.Thr2855Ile) c.8627C>T (p.Thr2876Ile) c.8624C>T (p.Thr2875Ile) c.8570C>T (p.Thr2857Ile) c.8540C>T (p.Thr2847Ile) c.8495C>T (p.Thr2832Ile) c.8090C>T (p.Thr2697Ile) c.7448C>T (p.Thr2483Ile) c.4958C>T (p.Thr1653Ile) | dbSNP |
10 | g.71807643A= | CA1918886580 | CDH23 | c.8436A= (p.Thr2812=) c.2369A= (n.2369A=) c.2033A= (n.2033A=) c.8451A= (p.Thr2817=) c.1716A= (p.Thr572=) n.1972A= c.8631A= (p.Thr2877=) c.8565A= (p.Thr2855=) c.8628A= (p.Thr2876=) c.8625A= (p.Thr2875=) c.8571A= (p.Thr2857=) c.8541A= (p.Thr2847=) c.8496A= (p.Thr2832=) c.8091A= (p.Thr2697=) c.7449A= (p.Thr2483=) c.4959A= (p.Thr1653=) | |
10 | g.71807643A>C | CA470282487 | CDH23 | c.8436A>C (p.Thr2812=) c.2369A>C (n.2369A>C) c.2033A>C (n.2033A>C) c.8451A>C (p.Thr2817=) c.1716A>C (p.Thr572=) n.1972A>C c.8631A>C (p.Thr2877=) c.8565A>C (p.Thr2855=) c.8628A>C (p.Thr2876=) c.8625A>C (p.Thr2875=) c.8571A>C (p.Thr2857=) c.8541A>C (p.Thr2847=) c.8496A>C (p.Thr2832=) c.8091A>C (p.Thr2697=) c.7449A>C (p.Thr2483=) c.4959A>C (p.Thr1653=) | dbSNP |
10 | g.71807643A>G | CA470282488 | CDH23 | c.8436A>G (p.Thr2812=) c.2369A>G (n.2369A>G) c.2033A>G (n.2033A>G) c.8451A>G (p.Thr2817=) c.1716A>G (p.Thr572=) n.1972A>G c.8631A>G (p.Thr2877=) c.8565A>G (p.Thr2855=) c.8628A>G (p.Thr2876=) c.8625A>G (p.Thr2875=) c.8571A>G (p.Thr2857=) c.8541A>G (p.Thr2847=) c.8496A>G (p.Thr2832=) c.8091A>G (p.Thr2697=) c.7449A>G (p.Thr2483=) c.4959A>G (p.Thr1653=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71807643A>T | CA470282489 | CDH23 | c.8436A>T (p.Thr2812=) c.2369A>T (n.2369A>T) c.2033A>T (n.2033A>T) c.8451A>T (p.Thr2817=) c.1716A>T (p.Thr572=) n.1972A>T c.8631A>T (p.Thr2877=) c.8565A>T (p.Thr2855=) c.8628A>T (p.Thr2876=) c.8625A>T (p.Thr2875=) c.8571A>T (p.Thr2857=) c.8541A>T (p.Thr2847=) c.8496A>T (p.Thr2832=) c.8091A>T (p.Thr2697=) c.7449A>T (p.Thr2483=) c.4959A>T (p.Thr1653=) | dbSNP |
10 | g.71807644C>A | CA377131546 | CDH23 | c.8437C>A (p.Pro2813Thr) c.2370C>A (n.2370C>A) c.2034C>A (n.2034C>A) c.8452C>A (p.Pro2818Thr) c.1717C>A (p.Pro573Thr) n.1973C>A c.8632C>A (p.Pro2878Thr) c.8566C>A (p.Pro2856Thr) c.8629C>A (p.Pro2877Thr) c.8626C>A (p.Pro2876Thr) c.8572C>A (p.Pro2858Thr) c.8542C>A (p.Pro2848Thr) c.8497C>A (p.Pro2833Thr) c.8092C>A (p.Pro2698Thr) c.7450C>A (p.Pro2484Thr) c.4960C>A (p.Pro1654Thr) | |
10 | g.71807644C= | CA1918886582 | CDH23 | c.8437C= (p.Pro2813=) c.2370C= (n.2370C=) c.2034C= (n.2034C=) c.8452C= (p.Pro2818=) c.1717C= (p.Pro573=) n.1973C= c.8632C= (p.Pro2878=) c.8566C= (p.Pro2856=) c.8629C= (p.Pro2877=) c.8626C= (p.Pro2876=) c.8572C= (p.Pro2858=) c.8542C= (p.Pro2848=) c.8497C= (p.Pro2833=) c.8092C= (p.Pro2698=) c.7450C= (p.Pro2484=) c.4960C= (p.Pro1654=) | |
10 | g.71807644C>G | CA377131545 | CDH23 | c.8437C>G (p.Pro2813Ala) c.2370C>G (n.2370C>G) c.2034C>G (n.2034C>G) c.8452C>G (p.Pro2818Ala) c.1717C>G (p.Pro573Ala) n.1973C>G c.8632C>G (p.Pro2878Ala) c.8566C>G (p.Pro2856Ala) c.8629C>G (p.Pro2877Ala) c.8626C>G (p.Pro2876Ala) c.8572C>G (p.Pro2858Ala) c.8542C>G (p.Pro2848Ala) c.8497C>G (p.Pro2833Ala) c.8092C>G (p.Pro2698Ala) c.7450C>G (p.Pro2484Ala) c.4960C>G (p.Pro1654Ala) | |
10 | g.71807644C>T | CA5546652 | CDH23 | c.8437C>T (p.Pro2813Ser) c.2370C>T (n.2370C>T) c.2034C>T (n.2034C>T) c.8452C>T (p.Pro2818Ser) c.1717C>T (p.Pro573Ser) n.1973C>T c.8632C>T (p.Pro2878Ser) c.8566C>T (p.Pro2856Ser) c.8629C>T (p.Pro2877Ser) c.8626C>T (p.Pro2876Ser) c.8572C>T (p.Pro2858Ser) c.8542C>T (p.Pro2848Ser) c.8497C>T (p.Pro2833Ser) c.8092C>T (p.Pro2698Ser) c.7450C>T (p.Pro2484Ser) c.4960C>T (p.Pro1654Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71807645C>A | CA377131548 | CDH23 | c.8438C>A (p.Pro2813His) c.2371C>A (n.2371C>A) c.2035C>A (n.2035C>A) c.8453C>A (p.Pro2818His) c.1718C>A (p.Pro573His) n.1974C>A c.8633C>A (p.Pro2878His) c.8567C>A (p.Pro2856His) c.8630C>A (p.Pro2877His) c.8627C>A (p.Pro2876His) c.8573C>A (p.Pro2858His) c.8543C>A (p.Pro2848His) c.8498C>A (p.Pro2833His) c.8093C>A (p.Pro2698His) c.7451C>A (p.Pro2484His) c.4961C>A (p.Pro1654His) | dbSNP |
10 | g.71807645C= | CA1918886584 | CDH23 | c.8438C= (p.Pro2813=) c.2371C= (n.2371C=) c.2035C= (n.2035C=) c.8453C= (p.Pro2818=) c.1718C= (p.Pro573=) n.1974C= c.8633C= (p.Pro2878=) c.8567C= (p.Pro2856=) c.8630C= (p.Pro2877=) c.8627C= (p.Pro2876=) c.8573C= (p.Pro2858=) c.8543C= (p.Pro2848=) c.8498C= (p.Pro2833=) c.8093C= (p.Pro2698=) c.7451C= (p.Pro2484=) c.4961C= (p.Pro1654=) | |
10 | g.71807645C>G | CA5546653 | CDH23 | c.8438C>G (p.Pro2813Arg) c.2371C>G (n.2371C>G) c.2035C>G (n.2035C>G) c.8453C>G (p.Pro2818Arg) c.1718C>G (p.Pro573Arg) n.1974C>G c.8633C>G (p.Pro2878Arg) c.8567C>G (p.Pro2856Arg) c.8630C>G (p.Pro2877Arg) c.8627C>G (p.Pro2876Arg) c.8573C>G (p.Pro2858Arg) c.8543C>G (p.Pro2848Arg) c.8498C>G (p.Pro2833Arg) c.8093C>G (p.Pro2698Arg) c.7451C>G (p.Pro2484Arg) c.4961C>G (p.Pro1654Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71807645C>T | CA377131547 | CDH23 | c.8438C>T (p.Pro2813Leu) c.2371C>T (n.2371C>T) c.2035C>T (n.2035C>T) c.8453C>T (p.Pro2818Leu) c.1718C>T (p.Pro573Leu) n.1974C>T c.8633C>T (p.Pro2878Leu) c.8567C>T (p.Pro2856Leu) c.8630C>T (p.Pro2877Leu) c.8627C>T (p.Pro2876Leu) c.8573C>T (p.Pro2858Leu) c.8543C>T (p.Pro2848Leu) c.8498C>T (p.Pro2833Leu) c.8093C>T (p.Pro2698Leu) c.7451C>T (p.Pro2484Leu) c.4961C>T (p.Pro1654Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71807646T>A | CA470282490 | CDH23 | c.8439T>A (p.Pro2813=) c.2372T>A (n.2372T>A) c.2036T>A (n.2036T>A) c.8454T>A (p.Pro2818=) c.1719T>A (p.Pro573=) n.1975T>A c.8634T>A (p.Pro2878=) c.8568T>A (p.Pro2856=) c.8631T>A (p.Pro2877=) c.8628T>A (p.Pro2876=) c.8574T>A (p.Pro2858=) c.8544T>A (p.Pro2848=) c.8499T>A (p.Pro2833=) c.8094T>A (p.Pro2698=) c.7452T>A (p.Pro2484=) c.4962T>A (p.Pro1654=) | |
10 | g.71807646T>C | CA470282491 | CDH23 | c.8439T>C (p.Pro2813=) c.2372T>C (n.2372T>C) c.2036T>C (n.2036T>C) c.8454T>C (p.Pro2818=) c.1719T>C (p.Pro573=) n.1975T>C c.8634T>C (p.Pro2878=) c.8568T>C (p.Pro2856=) c.8631T>C (p.Pro2877=) c.8628T>C (p.Pro2876=) c.8574T>C (p.Pro2858=) c.8544T>C (p.Pro2848=) c.8499T>C (p.Pro2833=) c.8094T>C (p.Pro2698=) c.7452T>C (p.Pro2484=) c.4962T>C (p.Pro1654=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.71807646T>G | CA470282492 | CDH23 | c.8439T>G (p.Pro2813=) c.2372T>G (n.2372T>G) c.2036T>G (n.2036T>G) c.8454T>G (p.Pro2818=) c.1719T>G (p.Pro573=) n.1975T>G c.8634T>G (p.Pro2878=) c.8568T>G (p.Pro2856=) c.8631T>G (p.Pro2877=) c.8628T>G (p.Pro2876=) c.8574T>G (p.Pro2858=) c.8544T>G (p.Pro2848=) c.8499T>G (p.Pro2833=) c.8094T>G (p.Pro2698=) c.7452T>G (p.Pro2484=) c.4962T>G (p.Pro1654=) | |
10 | g.71807646T= | CA1918886585 | CDH23 | c.8439T= (p.Pro2813=) c.2372T= (n.2372T=) c.2036T= (n.2036T=) c.8454T= (p.Pro2818=) c.1719T= (p.Pro573=) n.1975T= c.8634T= (p.Pro2878=) c.8568T= (p.Pro2856=) c.8631T= (p.Pro2877=) c.8628T= (p.Pro2876=) c.8574T= (p.Pro2858=) c.8544T= (p.Pro2848=) c.8499T= (p.Pro2833=) c.8094T= (p.Pro2698=) c.7452T= (p.Pro2484=) c.4962T= (p.Pro1654=) | |
10 | g.71807647C>A | CA377131549 | CDH23 | c.8440C>A (p.Pro2814Thr) c.2373C>A (n.2373C>A) c.2037C>A (n.2037C>A) c.8455C>A (p.Pro2819Thr) c.1720C>A (p.Pro574Thr) n.1976C>A c.8635C>A (p.Pro2879Thr) c.8569C>A (p.Pro2857Thr) c.8632C>A (p.Pro2878Thr) c.8629C>A (p.Pro2877Thr) c.8575C>A (p.Pro2859Thr) c.8545C>A (p.Pro2849Thr) c.8500C>A (p.Pro2834Thr) c.8095C>A (p.Pro2699Thr) c.7453C>A (p.Pro2485Thr) c.4963C>A (p.Pro1655Thr) | |
10 | g.71807647C>G | CA377131550 | CDH23 | c.8440C>G (p.Pro2814Ala) c.2373C>G (n.2373C>G) c.2037C>G (n.2037C>G) c.8455C>G (p.Pro2819Ala) c.1720C>G (p.Pro574Ala) n.1976C>G c.8635C>G (p.Pro2879Ala) c.8569C>G (p.Pro2857Ala) c.8632C>G (p.Pro2878Ala) c.8629C>G (p.Pro2877Ala) c.8575C>G (p.Pro2859Ala) c.8545C>G (p.Pro2849Ala) c.8500C>G (p.Pro2834Ala) c.8095C>G (p.Pro2699Ala) c.7453C>G (p.Pro2485Ala) c.4963C>G (p.Pro1655Ala) | |
10 | g.71807647C>T | CA377131551 | CDH23 | c.8440C>T (p.Pro2814Ser) c.2373C>T (n.2373C>T) c.2037C>T (n.2037C>T) c.8455C>T (p.Pro2819Ser) c.1720C>T (p.Pro574Ser) n.1976C>T c.8635C>T (p.Pro2879Ser) c.8569C>T (p.Pro2857Ser) c.8632C>T (p.Pro2878Ser) c.8629C>T (p.Pro2877Ser) c.8575C>T (p.Pro2859Ser) c.8545C>T (p.Pro2849Ser) c.8500C>T (p.Pro2834Ser) c.8095C>T (p.Pro2699Ser) c.7453C>T (p.Pro2485Ser) c.4963C>T (p.Pro1655Ser) | |
10 | g.71807650del | CA2609586443 | CDH23 | c.8443del (p.Arg2815ValfsTer22) c.2376del (n.2376del) c.2040del (n.2040del) c.8458del (p.Arg2820ValfsTer22) c.1723del (p.Arg575ValfsTer22) n.1979del c.8638del (p.Arg2880ValfsTer22) c.8572del (p.Arg2858ValfsTer22) c.8635del (p.Arg2879ValfsTer22) c.8632del (p.Arg2878ValfsTer22) c.8578del (p.Arg2860ValfsTer22) c.8548del (p.Arg2850ValfsTer22) c.8503del (p.Arg2835ValfsTer22) c.8098del (p.Arg2700ValfsTer22) c.7456del (p.Arg2486ValfsTer22) c.4966del (p.Arg1656ValfsTer22) | ClinVar gnomAD v4 |
10 | g.71807648C>A | CA377131554 | CDH23 | c.8441C>A (p.Pro2814His) c.2374C>A (n.2374C>A) c.2038C>A (n.2038C>A) c.8456C>A (p.Pro2819His) c.1721C>A (p.Pro574His) n.1977C>A c.8636C>A (p.Pro2879His) c.8570C>A (p.Pro2857His) c.8633C>A (p.Pro2878His) c.8630C>A (p.Pro2877His) c.8576C>A (p.Pro2859His) c.8546C>A (p.Pro2849His) c.8501C>A (p.Pro2834His) c.8096C>A (p.Pro2699His) c.7454C>A (p.Pro2485His) c.4964C>A (p.Pro1655His) | |
10 | g.71807648C>G | CA377131553 | CDH23 | c.8441C>G (p.Pro2814Arg) c.2374C>G (n.2374C>G) c.2038C>G (n.2038C>G) c.8456C>G (p.Pro2819Arg) c.1721C>G (p.Pro574Arg) n.1977C>G c.8636C>G (p.Pro2879Arg) c.8570C>G (p.Pro2857Arg) c.8633C>G (p.Pro2878Arg) c.8630C>G (p.Pro2877Arg) c.8576C>G (p.Pro2859Arg) c.8546C>G (p.Pro2849Arg) c.8501C>G (p.Pro2834Arg) c.8096C>G (p.Pro2699Arg) c.7454C>G (p.Pro2485Arg) c.4964C>G (p.Pro1655Arg) | |
10 | g.71807648C>T | CA377131552 | CDH23 | c.8441C>T (p.Pro2814Leu) c.2374C>T (n.2374C>T) c.2038C>T (n.2038C>T) c.8456C>T (p.Pro2819Leu) c.1721C>T (p.Pro574Leu) n.1977C>T c.8636C>T (p.Pro2879Leu) c.8570C>T (p.Pro2857Leu) c.8633C>T (p.Pro2878Leu) c.8630C>T (p.Pro2877Leu) c.8576C>T (p.Pro2859Leu) c.8546C>T (p.Pro2849Leu) c.8501C>T (p.Pro2834Leu) c.8096C>T (p.Pro2699Leu) c.7454C>T (p.Pro2485Leu) c.4964C>T (p.Pro1655Leu) | gnomAD v4 COSMIC |
10 | g.71807649C>A | CA470282495 | CDH23 | c.8442C>A (p.Pro2814=) c.2375C>A (n.2375C>A) c.2039C>A (n.2039C>A) c.8457C>A (p.Pro2819=) c.1722C>A (p.Pro574=) n.1978C>A c.8637C>A (p.Pro2879=) c.8571C>A (p.Pro2857=) c.8634C>A (p.Pro2878=) c.8631C>A (p.Pro2877=) c.8577C>A (p.Pro2859=) c.8547C>A (p.Pro2849=) c.8502C>A (p.Pro2834=) c.8097C>A (p.Pro2699=) c.7455C>A (p.Pro2485=) c.4965C>A (p.Pro1655=) | dbSNP |
10 | g.71807649C>G | CA470282496 | CDH23 | c.8442C>G (p.Pro2814=) c.2375C>G (n.2375C>G) c.2039C>G (n.2039C>G) c.8457C>G (p.Pro2819=) c.1722C>G (p.Pro574=) n.1978C>G c.8637C>G (p.Pro2879=) c.8571C>G (p.Pro2857=) c.8634C>G (p.Pro2878=) c.8631C>G (p.Pro2877=) c.8577C>G (p.Pro2859=) c.8547C>G (p.Pro2849=) c.8502C>G (p.Pro2834=) c.8097C>G (p.Pro2699=) c.7455C>G (p.Pro2485=) c.4965C>G (p.Pro1655=) | |
10 | g.71807649C>T | CA470282497 | CDH23 | c.8442C>T (p.Pro2814=) c.2375C>T (n.2375C>T) c.2039C>T (n.2039C>T) c.8457C>T (p.Pro2819=) c.1722C>T (p.Pro574=) n.1978C>T c.8637C>T (p.Pro2879=) c.8571C>T (p.Pro2857=) c.8634C>T (p.Pro2878=) c.8631C>T (p.Pro2877=) c.8577C>T (p.Pro2859=) c.8547C>T (p.Pro2849=) c.8502C>T (p.Pro2834=) c.8097C>T (p.Pro2699=) c.7455C>T (p.Pro2485=) c.4965C>T (p.Pro1655=) | |
10 | g.71807650C>A | CA5546655 | CDH23 | c.8443C>A (p.Arg2815Ser) c.2376C>A (n.2376C>A) c.2040C>A (n.2040C>A) c.8458C>A (p.Arg2820Ser) c.1723C>A (p.Arg575Ser) n.1979C>A c.8638C>A (p.Arg2880Ser) c.8572C>A (p.Arg2858Ser) c.8635C>A (p.Arg2879Ser) c.8632C>A (p.Arg2878Ser) c.8578C>A (p.Arg2860Ser) c.8548C>A (p.Arg2850Ser) c.8503C>A (p.Arg2835Ser) c.8098C>A (p.Arg2700Ser) c.7456C>A (p.Arg2486Ser) c.4966C>A (p.Arg1656Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71807650C= | CA1918886587 | CDH23 | c.8443C= (p.Arg2815=) c.2376C= (n.2376C=) c.2040C= (n.2040C=) c.8458C= (p.Arg2820=) c.1723C= (p.Arg575=) n.1979C= c.8638C= (p.Arg2880=) c.8572C= (p.Arg2858=) c.8635C= (p.Arg2879=) c.8632C= (p.Arg2878=) c.8578C= (p.Arg2860=) c.8548C= (p.Arg2850=) c.8503C= (p.Arg2835=) c.8098C= (p.Arg2700=) c.7456C= (p.Arg2486=) c.4966C= (p.Arg1656=) | |
10 | g.71807650C>G | CA5546654 | CDH23 | c.8443C>G (p.Arg2815Gly) c.2376C>G (n.2376C>G) c.2040C>G (n.2040C>G) c.8458C>G (p.Arg2820Gly) c.1723C>G (p.Arg575Gly) n.1979C>G c.8638C>G (p.Arg2880Gly) c.8572C>G (p.Arg2858Gly) c.8635C>G (p.Arg2879Gly) c.8632C>G (p.Arg2878Gly) c.8578C>G (p.Arg2860Gly) c.8548C>G (p.Arg2850Gly) c.8503C>G (p.Arg2835Gly) c.8098C>G (p.Arg2700Gly) c.7456C>G (p.Arg2486Gly) c.4966C>G (p.Arg1656Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71807650C>T | CA377131555 | CDH23 | c.8443C>T (p.Arg2815Cys) c.2376C>T (n.2376C>T) c.2040C>T (n.2040C>T) c.8458C>T (p.Arg2820Cys) c.1723C>T (p.Arg575Cys) n.1979C>T c.8638C>T (p.Arg2880Cys) c.8572C>T (p.Arg2858Cys) c.8635C>T (p.Arg2879Cys) c.8632C>T (p.Arg2878Cys) c.8578C>T (p.Arg2860Cys) c.8548C>T (p.Arg2850Cys) c.8503C>T (p.Arg2835Cys) c.8098C>T (p.Arg2700Cys) c.7456C>T (p.Arg2486Cys) c.4966C>T (p.Arg1656Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
10 | g.71807651del | CA2697558468 | CDH23 | c.8444del (p.Arg2815LeufsTer22) c.2377del (n.2377del) c.2041del (n.2041del) c.8459del (p.Arg2820LeufsTer22) c.1724del (p.Arg575LeufsTer22) n.1980del c.8639del (p.Arg2880LeufsTer22) c.8573del (p.Arg2858LeufsTer22) c.8636del (p.Arg2879LeufsTer22) c.8633del (p.Arg2878LeufsTer22) c.8579del (p.Arg2860LeufsTer22) c.8549del (p.Arg2850LeufsTer22) c.8504del (p.Arg2835LeufsTer22) c.8099del (p.Arg2700LeufsTer22) c.7457del (p.Arg2486LeufsTer22) c.4967del (p.Arg1656LeufsTer22) | ClinVar |
10 | g.71807651G>A | CA5546656 | CDH23 | c.8444G>A (p.Arg2815His) c.2377G>A (n.2377G>A) c.2041G>A (n.2041G>A) c.8459G>A (p.Arg2820His) c.1724G>A (p.Arg575His) n.1980G>A c.8639G>A (p.Arg2880His) c.8573G>A (p.Arg2858His) c.8636G>A (p.Arg2879His) c.8633G>A (p.Arg2878His) c.8579G>A (p.Arg2860His) c.8549G>A (p.Arg2850His) c.8504G>A (p.Arg2835His) c.8099G>A (p.Arg2700His) c.7457G>A (p.Arg2486His) c.4967G>A (p.Arg1656His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.71807651G>C | CA377131556 | CDH23 | c.8444G>C (p.Arg2815Pro) c.2377G>C (n.2377G>C) c.2041G>C (n.2041G>C) c.8459G>C (p.Arg2820Pro) c.1724G>C (p.Arg575Pro) n.1980G>C c.8639G>C (p.Arg2880Pro) c.8573G>C (p.Arg2858Pro) c.8636G>C (p.Arg2879Pro) c.8633G>C (p.Arg2878Pro) c.8579G>C (p.Arg2860Pro) c.8549G>C (p.Arg2850Pro) c.8504G>C (p.Arg2835Pro) c.8099G>C (p.Arg2700Pro) c.7457G>C (p.Arg2486Pro) c.4967G>C (p.Arg1656Pro) | dbSNP |
10 | g.71807651G= | CA1918886591 | CDH23 | c.8444G= (p.Arg2815=) c.2377G= (n.2377G=) c.2041G= (n.2041G=) c.8459G= (p.Arg2820=) c.1724G= (p.Arg575=) n.1980G= c.8639G= (p.Arg2880=) c.8573G= (p.Arg2858=) c.8636G= (p.Arg2879=) c.8633G= (p.Arg2878=) c.8579G= (p.Arg2860=) c.8549G= (p.Arg2850=) c.8504G= (p.Arg2835=) c.8099G= (p.Arg2700=) c.7457G= (p.Arg2486=) c.4967G= (p.Arg1656=) | |
10 | g.71807651G>T | CA377131557 | CDH23 | c.8444G>T (p.Arg2815Leu) c.2377G>T (n.2377G>T) c.2041G>T (n.2041G>T) c.8459G>T (p.Arg2820Leu) c.1724G>T (p.Arg575Leu) n.1980G>T c.8639G>T (p.Arg2880Leu) c.8573G>T (p.Arg2858Leu) c.8636G>T (p.Arg2879Leu) c.8633G>T (p.Arg2878Leu) c.8579G>T (p.Arg2860Leu) c.8549G>T (p.Arg2850Leu) c.8504G>T (p.Arg2835Leu) c.8099G>T (p.Arg2700Leu) c.7457G>T (p.Arg2486Leu) c.4967G>T (p.Arg1656Leu) | |
10 | g.71807652T>A | CA470282499 | CDH23 | c.8445T>A (p.Arg2815=) c.2378T>A (n.2378T>A) c.2042T>A (n.2042T>A) c.8460T>A (p.Arg2820=) c.1725T>A (p.Arg575=) n.1981T>A c.8640T>A (p.Arg2880=) c.8574T>A (p.Arg2858=) c.8637T>A (p.Arg2879=) c.8634T>A (p.Arg2878=) c.8580T>A (p.Arg2860=) c.8550T>A (p.Arg2850=) c.8505T>A (p.Arg2835=) c.8100T>A (p.Arg2700=) c.7458T>A (p.Arg2486=) c.4968T>A (p.Arg1656=) | |
10 | g.71807652T>C | CA470282500 | CDH23 | c.8445T>C (p.Arg2815=) c.2378T>C (n.2378T>C) c.2042T>C (n.2042T>C) c.8460T>C (p.Arg2820=) c.1725T>C (p.Arg575=) n.1981T>C c.8640T>C (p.Arg2880=) c.8574T>C (p.Arg2858=) c.8637T>C (p.Arg2879=) c.8634T>C (p.Arg2878=) c.8580T>C (p.Arg2860=) c.8550T>C (p.Arg2850=) c.8505T>C (p.Arg2835=) c.8100T>C (p.Arg2700=) c.7458T>C (p.Arg2486=) c.4968T>C (p.Arg1656=) | |
10 | g.71807652T>G | CA470282501 | CDH23 | c.8445T>G (p.Arg2815=) c.2378T>G (n.2378T>G) c.2042T>G (n.2042T>G) c.8460T>G (p.Arg2820=) c.1725T>G (p.Arg575=) n.1981T>G c.8640T>G (p.Arg2880=) c.8574T>G (p.Arg2858=) c.8637T>G (p.Arg2879=) c.8634T>G (p.Arg2878=) c.8580T>G (p.Arg2860=) c.8550T>G (p.Arg2850=) c.8505T>G (p.Arg2835=) c.8100T>G (p.Arg2700=) c.7458T>G (p.Arg2486=) c.4968T>G (p.Arg1656=) | |
10 | g.71807653G>A | CA377131558 | CDH23 | c.8446G>A (p.Gly2816Arg) c.2379G>A (n.2379G>A) c.2043G>A (n.2043G>A) c.8461G>A (p.Gly2821Arg) c.1726G>A (p.Gly576Arg) n.1982G>A c.8641G>A (p.Gly2881Arg) c.8575G>A (p.Gly2859Arg) c.8638G>A (p.Gly2880Arg) c.8635G>A (p.Gly2879Arg) c.8581G>A (p.Gly2861Arg) c.8551G>A (p.Gly2851Arg) c.8506G>A (p.Gly2836Arg) c.8101G>A (p.Gly2701Arg) c.7459G>A (p.Gly2487Arg) c.4969G>A (p.Gly1657Arg) | |
10 | g.71807653G>C | CA377131560 | CDH23 | c.8446G>C (p.Gly2816Arg) c.2379G>C (n.2379G>C) c.2043G>C (n.2043G>C) c.8461G>C (p.Gly2821Arg) c.1726G>C (p.Gly576Arg) n.1982G>C c.8641G>C (p.Gly2881Arg) c.8575G>C (p.Gly2859Arg) c.8638G>C (p.Gly2880Arg) c.8635G>C (p.Gly2879Arg) c.8581G>C (p.Gly2861Arg) c.8551G>C (p.Gly2851Arg) c.8506G>C (p.Gly2836Arg) c.8101G>C (p.Gly2701Arg) c.7459G>C (p.Gly2487Arg) c.4969G>C (p.Gly1657Arg) | |
10 | g.71807653G>T | CA377131559 | CDH23 | c.8446G>T (p.Gly2816Ter) c.2379G>T (n.2379G>T) c.2043G>T (n.2043G>T) c.8461G>T (p.Gly2821Ter) c.1726G>T (p.Gly576Ter) n.1982G>T c.8641G>T (p.Gly2881Ter) c.8575G>T (p.Gly2859Ter) c.8638G>T (p.Gly2880Ter) c.8635G>T (p.Gly2879Ter) c.8581G>T (p.Gly2861Ter) c.8551G>T (p.Gly2851Ter) c.8506G>T (p.Gly2836Ter) c.8101G>T (p.Gly2701Ter) c.7459G>T (p.Gly2487Ter) c.4969G>T (p.Gly1657Ter) | dbSNP |
10 | g.71807654G>A | CA5546657 | CDH23 | c.8447G>A (p.Gly2816Glu) c.2380G>A (n.2380G>A) c.2044G>A (n.2044G>A) c.8462G>A (p.Gly2821Glu) c.1727G>A (p.Gly576Glu) n.1983G>A c.8642G>A (p.Gly2881Glu) c.8576G>A (p.Gly2859Glu) c.8639G>A (p.Gly2880Glu) c.8636G>A (p.Gly2879Glu) c.8582G>A (p.Gly2861Glu) c.8552G>A (p.Gly2851Glu) c.8507G>A (p.Gly2836Glu) c.8102G>A (p.Gly2701Glu) c.7460G>A (p.Gly2487Glu) c.4970G>A (p.Gly1657Glu) | dbSNP ExAC gnomAD v2 |
10 | g.71807654G>C | CA377131561 | CDH23 | c.8447G>C (p.Gly2816Ala) c.2380G>C (n.2380G>C) c.2044G>C (n.2044G>C) c.8462G>C (p.Gly2821Ala) c.1727G>C (p.Gly576Ala) n.1983G>C c.8642G>C (p.Gly2881Ala) c.8576G>C (p.Gly2859Ala) c.8639G>C (p.Gly2880Ala) c.8636G>C (p.Gly2879Ala) c.8582G>C (p.Gly2861Ala) c.8552G>C (p.Gly2851Ala) c.8507G>C (p.Gly2836Ala) c.8102G>C (p.Gly2701Ala) c.7460G>C (p.Gly2487Ala) c.4970G>C (p.Gly1657Ala) | |
10 | g.71807654G= | CA1918886594 | CDH23 | c.8447G= (p.Gly2816=) c.2380G= (n.2380G=) c.2044G= (n.2044G=) c.8462G= (p.Gly2821=) c.1727G= (p.Gly576=) n.1983G= c.8642G= (p.Gly2881=) c.8576G= (p.Gly2859=) c.8639G= (p.Gly2880=) c.8636G= (p.Gly2879=) c.8582G= (p.Gly2861=) c.8552G= (p.Gly2851=) c.8507G= (p.Gly2836=) c.8102G= (p.Gly2701=) c.7460G= (p.Gly2487=) c.4970G= (p.Gly1657=) | |
10 | g.71807654G>T | CA377131562 | CDH23 | c.8447G>T (p.Gly2816Val) c.2380G>T (n.2380G>T) c.2044G>T (n.2044G>T) c.8462G>T (p.Gly2821Val) c.1727G>T (p.Gly576Val) n.1983G>T c.8642G>T (p.Gly2881Val) c.8576G>T (p.Gly2859Val) c.8639G>T (p.Gly2880Val) c.8636G>T (p.Gly2879Val) c.8582G>T (p.Gly2861Val) c.8552G>T (p.Gly2851Val) c.8507G>T (p.Gly2836Val) c.8102G>T (p.Gly2701Val) c.7460G>T (p.Gly2487Val) c.4970G>T (p.Gly1657Val) | |
10 | g.71807655A>C | CA470282506 | CDH23 | c.8448A>C (p.Gly2816=) c.2381A>C (n.2381A>C) c.2045A>C (n.2045A>C) c.8463A>C (p.Gly2821=) c.1728A>C (p.Gly576=) n.1984A>C c.8643A>C (p.Gly2881=) c.8577A>C (p.Gly2859=) c.8640A>C (p.Gly2880=) c.8637A>C (p.Gly2879=) c.8583A>C (p.Gly2861=) c.8553A>C (p.Gly2851=) c.8508A>C (p.Gly2836=) c.8103A>C (p.Gly2701=) c.7461A>C (p.Gly2487=) c.4971A>C (p.Gly1657=) | dbSNP |
10 | g.71807655A>G | CA470282504 | CDH23 | c.8448A>G (p.Gly2816=) c.2381A>G (n.2381A>G) c.2045A>G (n.2045A>G) c.8463A>G (p.Gly2821=) c.1728A>G (p.Gly576=) n.1984A>G c.8643A>G (p.Gly2881=) c.8577A>G (p.Gly2859=) c.8640A>G (p.Gly2880=) c.8637A>G (p.Gly2879=) c.8583A>G (p.Gly2861=) c.8553A>G (p.Gly2851=) c.8508A>G (p.Gly2836=) c.8103A>G (p.Gly2701=) c.7461A>G (p.Gly2487=) c.4971A>G (p.Gly1657=) | |
10 | g.71807655A>T | CA470282503 | CDH23 | c.8448A>T (p.Gly2816=) c.2381A>T (n.2381A>T) c.2045A>T (n.2045A>T) c.8463A>T (p.Gly2821=) c.1728A>T (p.Gly576=) n.1984A>T c.8643A>T (p.Gly2881=) c.8577A>T (p.Gly2859=) c.8640A>T (p.Gly2880=) c.8637A>T (p.Gly2879=) c.8583A>T (p.Gly2861=) c.8553A>T (p.Gly2851=) c.8508A>T (p.Gly2836=) c.8103A>T (p.Gly2701=) c.7461A>T (p.Gly2487=) c.4971A>T (p.Gly1657=) | dbSNP gnomAD v4 |
10 | g.71807656C>A | CA377131563 | CDH23 | c.8449C>A (p.Pro2817Thr) c.2382C>A (n.2382C>A) c.2046C>A (n.2046C>A) c.8464C>A (p.Pro2822Thr) c.1729C>A (p.Pro577Thr) n.1985C>A c.8644C>A (p.Pro2882Thr) c.8578C>A (p.Pro2860Thr) c.8641C>A (p.Pro2881Thr) c.8638C>A (p.Pro2880Thr) c.8584C>A (p.Pro2862Thr) c.8554C>A (p.Pro2852Thr) c.8509C>A (p.Pro2837Thr) c.8104C>A (p.Pro2702Thr) c.7462C>A (p.Pro2488Thr) c.4972C>A (p.Pro1658Thr) | |
10 | g.71807656C>G | CA377131564 | CDH23 | c.8449C>G (p.Pro2817Ala) c.2382C>G (n.2382C>G) c.2046C>G (n.2046C>G) c.8464C>G (p.Pro2822Ala) c.1729C>G (p.Pro577Ala) n.1985C>G c.8644C>G (p.Pro2882Ala) c.8578C>G (p.Pro2860Ala) c.8641C>G (p.Pro2881Ala) c.8638C>G (p.Pro2880Ala) c.8584C>G (p.Pro2862Ala) c.8554C>G (p.Pro2852Ala) c.8509C>G (p.Pro2837Ala) c.8104C>G (p.Pro2702Ala) c.7462C>G (p.Pro2488Ala) c.4972C>G (p.Pro1658Ala) | |
10 | g.71807656C>T | CA377131565 | CDH23 | c.8449C>T (p.Pro2817Ser) c.2382C>T (n.2382C>T) c.2046C>T (n.2046C>T) c.8464C>T (p.Pro2822Ser) c.1729C>T (p.Pro577Ser) n.1985C>T c.8644C>T (p.Pro2882Ser) c.8578C>T (p.Pro2860Ser) c.8641C>T (p.Pro2881Ser) c.8638C>T (p.Pro2880Ser) c.8584C>T (p.Pro2862Ser) c.8554C>T (p.Pro2852Ser) c.8509C>T (p.Pro2837Ser) c.8104C>T (p.Pro2702Ser) c.7462C>T (p.Pro2488Ser) c.4972C>T (p.Pro1658Ser) | COSMIC |
10 | g.71807657C>A | CA377131566 | CDH23 | c.8450C>A (p.Pro2817His) c.2383C>A (n.2383C>A) c.2047C>A (n.2047C>A) c.8465C>A (p.Pro2822His) c.1730C>A (p.Pro577His) n.1986C>A c.8645C>A (p.Pro2882His) c.8579C>A (p.Pro2860His) c.8642C>A (p.Pro2881His) c.8639C>A (p.Pro2880His) c.8585C>A (p.Pro2862His) c.8555C>A (p.Pro2852His) c.8510C>A (p.Pro2837His) c.8105C>A (p.Pro2702His) c.7463C>A (p.Pro2488His) c.4973C>A (p.Pro1658His) | |
10 | g.71807657C>G | CA377131567 | CDH23 | c.8450C>G (p.Pro2817Arg) c.2383C>G (n.2383C>G) c.2047C>G (n.2047C>G) c.8465C>G (p.Pro2822Arg) c.1730C>G (p.Pro577Arg) n.1986C>G c.8645C>G (p.Pro2882Arg) c.8579C>G (p.Pro2860Arg) c.8642C>G (p.Pro2881Arg) c.8639C>G (p.Pro2880Arg) c.8585C>G (p.Pro2862Arg) c.8555C>G (p.Pro2852Arg) c.8510C>G (p.Pro2837Arg) c.8105C>G (p.Pro2702Arg) c.7463C>G (p.Pro2488Arg) c.4973C>G (p.Pro1658Arg) | |
10 | g.71807657C>T | CA377131568 | CDH23 | c.8450C>T (p.Pro2817Leu) c.2383C>T (n.2383C>T) c.2047C>T (n.2047C>T) c.8465C>T (p.Pro2822Leu) c.1730C>T (p.Pro577Leu) n.1986C>T c.8645C>T (p.Pro2882Leu) c.8579C>T (p.Pro2860Leu) c.8642C>T (p.Pro2881Leu) c.8639C>T (p.Pro2880Leu) c.8585C>T (p.Pro2862Leu) c.8555C>T (p.Pro2852Leu) c.8510C>T (p.Pro2837Leu) c.8105C>T (p.Pro2702Leu) c.7463C>T (p.Pro2488Leu) c.4973C>T (p.Pro1658Leu) | |
10 | g.71807658C>A | CA470282511 | CDH23 | c.8451C>A (p.Pro2817=) c.2384C>A (n.2384C>A) c.2048C>A (n.2048C>A) c.8466C>A (p.Pro2822=) c.1731C>A (p.Pro577=) n.1987C>A c.8646C>A (p.Pro2882=) c.8580C>A (p.Pro2860=) c.8643C>A (p.Pro2881=) c.8640C>A (p.Pro2880=) c.8586C>A (p.Pro2862=) c.8556C>A (p.Pro2852=) c.8511C>A (p.Pro2837=) c.8106C>A (p.Pro2702=) c.7464C>A (p.Pro2488=) c.4974C>A (p.Pro1658=) | |
10 | g.71807658C>G | CA470282512 | CDH23 | c.8451C>G (p.Pro2817=) c.2384C>G (n.2384C>G) c.2048C>G (n.2048C>G) c.8466C>G (p.Pro2822=) c.1731C>G (p.Pro577=) n.1987C>G c.8646C>G (p.Pro2882=) c.8580C>G (p.Pro2860=) c.8643C>G (p.Pro2881=) c.8640C>G (p.Pro2880=) c.8586C>G (p.Pro2862=) c.8556C>G (p.Pro2852=) c.8511C>G (p.Pro2837=) c.8106C>G (p.Pro2702=) c.7464C>G (p.Pro2488=) c.4974C>G (p.Pro1658=) | |
10 | g.71807658C>T | CA470282513 | CDH23 | c.8451C>T (p.Pro2817=) c.2384C>T (n.2384C>T) c.2048C>T (n.2048C>T) c.8466C>T (p.Pro2822=) c.1731C>T (p.Pro577=) n.1987C>T c.8646C>T (p.Pro2882=) c.8580C>T (p.Pro2860=) c.8643C>T (p.Pro2881=) c.8640C>T (p.Pro2880=) c.8586C>T (p.Pro2862=) c.8556C>T (p.Pro2852=) c.8511C>T (p.Pro2837=) c.8106C>T (p.Pro2702=) c.7464C>T (p.Pro2488=) c.4974C>T (p.Pro1658=) | |
10 | g.71807659T>A | CA377131569 | CDH23 | c.8452T>A (p.Ser2818Thr) c.2385T>A (n.2385T>A) c.2049T>A (n.2049T>A) c.8467T>A (p.Ser2823Thr) c.1732T>A (p.Ser578Thr) n.1988T>A c.8647T>A (p.Ser2883Thr) c.8581T>A (p.Ser2861Thr) c.8644T>A (p.Ser2882Thr) c.8641T>A (p.Ser2881Thr) c.8587T>A (p.Ser2863Thr) c.8557T>A (p.Ser2853Thr) c.8512T>A (p.Ser2838Thr) c.8107T>A (p.Ser2703Thr) c.7465T>A (p.Ser2489Thr) c.4975T>A (p.Ser1659Thr) | |
10 | g.71807659T>C | CA377131570 | CDH23 | c.8452T>C (p.Ser2818Pro) c.2385T>C (n.2385T>C) c.2049T>C (n.2049T>C) c.8467T>C (p.Ser2823Pro) c.1732T>C (p.Ser578Pro) n.1988T>C c.8647T>C (p.Ser2883Pro) c.8581T>C (p.Ser2861Pro) c.8644T>C (p.Ser2882Pro) c.8641T>C (p.Ser2881Pro) c.8587T>C (p.Ser2863Pro) c.8557T>C (p.Ser2853Pro) c.8512T>C (p.Ser2838Pro) c.8107T>C (p.Ser2703Pro) c.7465T>C (p.Ser2489Pro) c.4975T>C (p.Ser1659Pro) | dbSNP |
10 | g.71807659T>G | CA377131571 | CDH23 | c.8452T>G (p.Ser2818Ala) c.2385T>G (n.2385T>G) c.2049T>G (n.2049T>G) c.8467T>G (p.Ser2823Ala) c.1732T>G (p.Ser578Ala) n.1988T>G c.8647T>G (p.Ser2883Ala) c.8581T>G (p.Ser2861Ala) c.8644T>G (p.Ser2882Ala) c.8641T>G (p.Ser2881Ala) c.8587T>G (p.Ser2863Ala) c.8557T>G (p.Ser2853Ala) c.8512T>G (p.Ser2838Ala) c.8107T>G (p.Ser2703Ala) c.7465T>G (p.Ser2489Ala) c.4975T>G (p.Ser1659Ala) | gnomAD v4 |
10 | g.71807660C>A | CA377131573 | CDH23 | c.8453C>A (p.Ser2818Tyr) c.2386C>A (n.2386C>A) c.2050C>A (n.2050C>A) c.8468C>A (p.Ser2823Tyr) c.1733C>A (p.Ser578Tyr) n.1989C>A c.8648C>A (p.Ser2883Tyr) c.8582C>A (p.Ser2861Tyr) c.8645C>A (p.Ser2882Tyr) c.8642C>A (p.Ser2881Tyr) c.8588C>A (p.Ser2863Tyr) c.8558C>A (p.Ser2853Tyr) c.8513C>A (p.Ser2838Tyr) c.8108C>A (p.Ser2703Tyr) c.7466C>A (p.Ser2489Tyr) c.4976C>A (p.Ser1659Tyr) | |
10 | g.71807660C= | CA1918886597 | CDH23 | c.8453C= (p.Ser2818=) c.2386C= (n.2386C=) c.2050C= (n.2050C=) c.8468C= (p.Ser2823=) c.1733C= (p.Ser578=) n.1989C= c.8648C= (p.Ser2883=) c.8582C= (p.Ser2861=) c.8645C= (p.Ser2882=) c.8642C= (p.Ser2881=) c.8588C= (p.Ser2863=) c.8558C= (p.Ser2853=) c.8513C= (p.Ser2838=) c.8108C= (p.Ser2703=) c.7466C= (p.Ser2489=) c.4976C= (p.Ser1659=) | |
10 | g.71807660C>G | CA377131572 | CDH23 | c.8453C>G (p.Ser2818Cys) c.2386C>G (n.2386C>G) c.2050C>G (n.2050C>G) c.8468C>G (p.Ser2823Cys) c.1733C>G (p.Ser578Cys) n.1989C>G c.8648C>G (p.Ser2883Cys) c.8582C>G (p.Ser2861Cys) c.8645C>G (p.Ser2882Cys) c.8642C>G (p.Ser2881Cys) c.8588C>G (p.Ser2863Cys) c.8558C>G (p.Ser2853Cys) c.8513C>G (p.Ser2838Cys) c.8108C>G (p.Ser2703Cys) c.7466C>G (p.Ser2489Cys) c.4976C>G (p.Ser1659Cys) | |
10 | g.71807660C>T | CA5546658 | CDH23 | c.8453C>T (p.Ser2818Phe) c.2386C>T (n.2386C>T) c.2050C>T (n.2050C>T) c.8468C>T (p.Ser2823Phe) c.1733C>T (p.Ser578Phe) n.1989C>T c.8648C>T (p.Ser2883Phe) c.8582C>T (p.Ser2861Phe) c.8645C>T (p.Ser2882Phe) c.8642C>T (p.Ser2881Phe) c.8588C>T (p.Ser2863Phe) c.8558C>T (p.Ser2853Phe) c.8513C>T (p.Ser2838Phe) c.8108C>T (p.Ser2703Phe) c.7466C>T (p.Ser2489Phe) c.4976C>T (p.Ser1659Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71807661C>A | CA470282515 | CDH23 | c.8454C>A (p.Ser2818=) c.2387C>A (n.2387C>A) c.2051C>A (n.2051C>A) c.8469C>A (p.Ser2823=) c.1734C>A (p.Ser578=) n.1990C>A c.8649C>A (p.Ser2883=) c.8583C>A (p.Ser2861=) c.8646C>A (p.Ser2882=) c.8643C>A (p.Ser2881=) c.8589C>A (p.Ser2863=) c.8559C>A (p.Ser2853=) c.8514C>A (p.Ser2838=) c.8109C>A (p.Ser2703=) c.7467C>A (p.Ser2489=) c.4977C>A (p.Ser1659=) | dbSNP |
10 | g.71807661C= | CA1918886600 | CDH23 | c.8454C= (p.Ser2818=) c.2387C= (n.2387C=) c.2051C= (n.2051C=) c.8469C= (p.Ser2823=) c.1734C= (p.Ser578=) n.1990C= c.8649C= (p.Ser2883=) c.8583C= (p.Ser2861=) c.8646C= (p.Ser2882=) c.8643C= (p.Ser2881=) c.8589C= (p.Ser2863=) c.8559C= (p.Ser2853=) c.8514C= (p.Ser2838=) c.8109C= (p.Ser2703=) c.7467C= (p.Ser2489=) c.4977C= (p.Ser1659=) | |
10 | g.71807661C>G | CA470282516 | CDH23 | c.8454C>G (p.Ser2818=) c.2387C>G (n.2387C>G) c.2051C>G (n.2051C>G) c.8469C>G (p.Ser2823=) c.1734C>G (p.Ser578=) n.1990C>G c.8649C>G (p.Ser2883=) c.8583C>G (p.Ser2861=) c.8646C>G (p.Ser2882=) c.8643C>G (p.Ser2881=) c.8589C>G (p.Ser2863=) c.8559C>G (p.Ser2853=) c.8514C>G (p.Ser2838=) c.8109C>G (p.Ser2703=) c.7467C>G (p.Ser2489=) c.4977C>G (p.Ser1659=) | gnomAD v4 |
10 | g.71807661C>T | CA470282517 | CDH23 | c.8454C>T (p.Ser2818=) c.2387C>T (n.2387C>T) c.2051C>T (n.2051C>T) c.8469C>T (p.Ser2823=) c.1734C>T (p.Ser578=) n.1990C>T c.8649C>T (p.Ser2883=) c.8583C>T (p.Ser2861=) c.8646C>T (p.Ser2882=) c.8643C>T (p.Ser2881=) c.8589C>T (p.Ser2863=) c.8559C>T (p.Ser2853=) c.8514C>T (p.Ser2838=) c.8109C>T (p.Ser2703=) c.7467C>T (p.Ser2489=) c.4977C>T (p.Ser1659=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.71807662C>A | CA377131574 | CDH23 | c.8455C>A (p.Pro2819Thr) c.2388C>A (n.2388C>A) c.2052C>A (n.2052C>A) c.8470C>A (p.Pro2824Thr) c.1735C>A (p.Pro579Thr) n.1991C>A c.8650C>A (p.Pro2884Thr) c.8584C>A (p.Pro2862Thr) c.8647C>A (p.Pro2883Thr) c.8644C>A (p.Pro2882Thr) c.8590C>A (p.Pro2864Thr) c.8560C>A (p.Pro2854Thr) c.8515C>A (p.Pro2839Thr) c.8110C>A (p.Pro2704Thr) c.7468C>A (p.Pro2490Thr) c.4978C>A (p.Pro1660Thr) | dbSNP |
10 | g.71807662C>G | CA377131576 | CDH23 | c.8455C>G (p.Pro2819Ala) c.2388C>G (n.2388C>G) c.2052C>G (n.2052C>G) c.8470C>G (p.Pro2824Ala) c.1735C>G (p.Pro579Ala) n.1991C>G c.8650C>G (p.Pro2884Ala) c.8584C>G (p.Pro2862Ala) c.8647C>G (p.Pro2883Ala) c.8644C>G (p.Pro2882Ala) c.8590C>G (p.Pro2864Ala) c.8560C>G (p.Pro2854Ala) c.8515C>G (p.Pro2839Ala) c.8110C>G (p.Pro2704Ala) c.7468C>G (p.Pro2490Ala) c.4978C>G (p.Pro1660Ala) | |
10 | g.71807662C>T | CA377131575 | CDH23 | c.8455C>T (p.Pro2819Ser) c.2388C>T (n.2388C>T) c.2052C>T (n.2052C>T) c.8470C>T (p.Pro2824Ser) c.1735C>T (p.Pro579Ser) n.1991C>T c.8650C>T (p.Pro2884Ser) c.8584C>T (p.Pro2862Ser) c.8647C>T (p.Pro2883Ser) c.8644C>T (p.Pro2882Ser) c.8590C>T (p.Pro2864Ser) c.8560C>T (p.Pro2854Ser) c.8515C>T (p.Pro2839Ser) c.8110C>T (p.Pro2704Ser) c.7468C>T (p.Pro2490Ser) c.4978C>T (p.Pro1660Ser) | gnomAD v4 COSMIC |
10 | g.71807663C>A | CA377131577 | CDH23 | c.8456C>A (p.Pro2819Gln) c.2389C>A (n.2389C>A) c.2053C>A (n.2053C>A) c.8471C>A (p.Pro2824Gln) c.1736C>A (p.Pro579Gln) n.1992C>A c.8651C>A (p.Pro2884Gln) c.8585C>A (p.Pro2862Gln) c.8648C>A (p.Pro2883Gln) c.8645C>A (p.Pro2882Gln) c.8591C>A (p.Pro2864Gln) c.8561C>A (p.Pro2854Gln) c.8516C>A (p.Pro2839Gln) c.8111C>A (p.Pro2704Gln) c.7469C>A (p.Pro2490Gln) c.4979C>A (p.Pro1660Gln) | |
10 | g.71807663C>G | CA377131578 | CDH23 | c.8456C>G (p.Pro2819Arg) c.2389C>G (n.2389C>G) c.2053C>G (n.2053C>G) c.8471C>G (p.Pro2824Arg) c.1736C>G (p.Pro579Arg) n.1992C>G c.8651C>G (p.Pro2884Arg) c.8585C>G (p.Pro2862Arg) c.8648C>G (p.Pro2883Arg) c.8645C>G (p.Pro2882Arg) c.8591C>G (p.Pro2864Arg) c.8561C>G (p.Pro2854Arg) c.8516C>G (p.Pro2839Arg) c.8111C>G (p.Pro2704Arg) c.7469C>G (p.Pro2490Arg) c.4979C>G (p.Pro1660Arg) | |
10 | g.71807663C>T | CA377131579 | CDH23 | c.8456C>T (p.Pro2819Leu) c.2389C>T (n.2389C>T) c.2053C>T (n.2053C>T) c.8471C>T (p.Pro2824Leu) c.1736C>T (p.Pro579Leu) n.1992C>T c.8651C>T (p.Pro2884Leu) c.8585C>T (p.Pro2862Leu) c.8648C>T (p.Pro2883Leu) c.8645C>T (p.Pro2882Leu) c.8591C>T (p.Pro2864Leu) c.8561C>T (p.Pro2854Leu) c.8516C>T (p.Pro2839Leu) c.8111C>T (p.Pro2704Leu) c.7469C>T (p.Pro2490Leu) c.4979C>T (p.Pro1660Leu) | gnomAD v4 |
10 | g.71807664A>C | CA470282520 | CDH23 | c.8457A>C (p.Pro2819=) c.2390A>C (n.2390A>C) c.2054A>C (n.2054A>C) c.8472A>C (p.Pro2824=) c.1737A>C (p.Pro579=) n.1993A>C c.8652A>C (p.Pro2884=) c.8586A>C (p.Pro2862=) c.8649A>C (p.Pro2883=) c.8646A>C (p.Pro2882=) c.8592A>C (p.Pro2864=) c.8562A>C (p.Pro2854=) c.8517A>C (p.Pro2839=) c.8112A>C (p.Pro2704=) c.7470A>C (p.Pro2490=) c.4980A>C (p.Pro1660=) | |
10 | g.71807664A>G | CA470282522 | CDH23 | c.8457A>G (p.Pro2819=) c.2390A>G (n.2390A>G) c.2054A>G (n.2054A>G) c.8472A>G (p.Pro2824=) c.1737A>G (p.Pro579=) n.1993A>G c.8652A>G (p.Pro2884=) c.8586A>G (p.Pro2862=) c.8649A>G (p.Pro2883=) c.8646A>G (p.Pro2882=) c.8592A>G (p.Pro2864=) c.8562A>G (p.Pro2854=) c.8517A>G (p.Pro2839=) c.8112A>G (p.Pro2704=) c.7470A>G (p.Pro2490=) c.4980A>G (p.Pro1660=) | |
10 | g.71807664A>T | CA470282523 | CDH23 | c.8457A>T (p.Pro2819=) c.2390A>T (n.2390A>T) c.2054A>T (n.2054A>T) c.8472A>T (p.Pro2824=) c.1737A>T (p.Pro579=) n.1993A>T c.8652A>T (p.Pro2884=) c.8586A>T (p.Pro2862=) c.8649A>T (p.Pro2883=) c.8646A>T (p.Pro2882=) c.8592A>T (p.Pro2864=) c.8562A>T (p.Pro2854=) c.8517A>T (p.Pro2839=) c.8112A>T (p.Pro2704=) c.7470A>T (p.Pro2490=) c.4980A>T (p.Pro1660=) | |
10 | g.71807665A>C | CA377131580 | CDH23 | c.8458A>C (p.Thr2820Pro) c.2391A>C (n.2391A>C) c.2055A>C (n.2055A>C) c.8473A>C (p.Thr2825Pro) c.1738A>C (p.Thr580Pro) n.1994A>C c.8653A>C (p.Thr2885Pro) c.8587A>C (p.Thr2863Pro) c.8650A>C (p.Thr2884Pro) c.8647A>C (p.Thr2883Pro) c.8593A>C (p.Thr2865Pro) c.8563A>C (p.Thr2855Pro) c.8518A>C (p.Thr2840Pro) c.8113A>C (p.Thr2705Pro) c.7471A>C (p.Thr2491Pro) c.4981A>C (p.Thr1661Pro) | |
10 | g.71807665A>G | CA377131581 | CDH23 | c.8458A>G (p.Thr2820Ala) c.2391A>G (n.2391A>G) c.2055A>G (n.2055A>G) c.8473A>G (p.Thr2825Ala) c.1738A>G (p.Thr580Ala) n.1994A>G c.8653A>G (p.Thr2885Ala) c.8587A>G (p.Thr2863Ala) c.8650A>G (p.Thr2884Ala) c.8647A>G (p.Thr2883Ala) c.8593A>G (p.Thr2865Ala) c.8563A>G (p.Thr2855Ala) c.8518A>G (p.Thr2840Ala) c.8113A>G (p.Thr2705Ala) c.7471A>G (p.Thr2491Ala) c.4981A>G (p.Thr1661Ala) | |
10 | g.71807665A>T | CA377131582 | CDH23 | c.8458A>T (p.Thr2820Ser) c.2391A>T (n.2391A>T) c.2055A>T (n.2055A>T) c.8473A>T (p.Thr2825Ser) c.1738A>T (p.Thr580Ser) n.1994A>T c.8653A>T (p.Thr2885Ser) c.8587A>T (p.Thr2863Ser) c.8650A>T (p.Thr2884Ser) c.8647A>T (p.Thr2883Ser) c.8593A>T (p.Thr2865Ser) c.8563A>T (p.Thr2855Ser) c.8518A>T (p.Thr2840Ser) c.8113A>T (p.Thr2705Ser) c.7471A>T (p.Thr2491Ser) c.4981A>T (p.Thr1661Ser) | dbSNP |
10 | g.71807666C>A | CA377131583 | CDH23 | c.8459C>A (p.Thr2820Asn) c.2392C>A (n.2392C>A) c.2056C>A (n.2056C>A) c.8474C>A (p.Thr2825Asn) c.1739C>A (p.Thr580Asn) n.1995C>A c.8654C>A (p.Thr2885Asn) c.8588C>A (p.Thr2863Asn) c.8651C>A (p.Thr2884Asn) c.8648C>A (p.Thr2883Asn) c.8594C>A (p.Thr2865Asn) c.8564C>A (p.Thr2855Asn) c.8519C>A (p.Thr2840Asn) c.8114C>A (p.Thr2705Asn) c.7472C>A (p.Thr2491Asn) c.4982C>A (p.Thr1661Asn) | dbSNP |
10 | g.71807666C= | CA1918886603 | CDH23 | c.8459C= (p.Thr2820=) c.2392C= (n.2392C=) c.2056C= (n.2056C=) c.8474C= (p.Thr2825=) c.1739C= (p.Thr580=) n.1995C= c.8654C= (p.Thr2885=) c.8588C= (p.Thr2863=) c.8651C= (p.Thr2884=) c.8648C= (p.Thr2883=) c.8594C= (p.Thr2865=) c.8564C= (p.Thr2855=) c.8519C= (p.Thr2840=) c.8114C= (p.Thr2705=) c.7472C= (p.Thr2491=) c.4982C= (p.Thr1661=) | |
10 | g.71807666C>G | CA377131584 | CDH23 | c.8459C>G (p.Thr2820Ser) c.2392C>G (n.2392C>G) c.2056C>G (n.2056C>G) c.8474C>G (p.Thr2825Ser) c.1739C>G (p.Thr580Ser) n.1995C>G c.8654C>G (p.Thr2885Ser) c.8588C>G (p.Thr2863Ser) c.8651C>G (p.Thr2884Ser) c.8648C>G (p.Thr2883Ser) c.8594C>G (p.Thr2865Ser) c.8564C>G (p.Thr2855Ser) c.8519C>G (p.Thr2840Ser) c.8114C>G (p.Thr2705Ser) c.7472C>G (p.Thr2491Ser) c.4982C>G (p.Thr1661Ser) | |
10 | g.71807666C>T | CA5546659 | CDH23 | c.8459C>T (p.Thr2820Ile) c.2392C>T (n.2392C>T) c.2056C>T (n.2056C>T) c.8474C>T (p.Thr2825Ile) c.1739C>T (p.Thr580Ile) n.1995C>T c.8654C>T (p.Thr2885Ile) c.8588C>T (p.Thr2863Ile) c.8651C>T (p.Thr2884Ile) c.8648C>T (p.Thr2883Ile) c.8594C>T (p.Thr2865Ile) c.8564C>T (p.Thr2855Ile) c.8519C>T (p.Thr2840Ile) c.8114C>T (p.Thr2705Ile) c.7472C>T (p.Thr2491Ile) c.4982C>T (p.Thr1661Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71807667C>A | CA470282526 | CDH23 | c.8460C>A (p.Thr2820=) c.2393C>A (n.2393C>A) c.2057C>A (n.2057C>A) c.8475C>A (p.Thr2825=) c.1740C>A (p.Thr580=) n.1996C>A c.8655C>A (p.Thr2885=) c.8589C>A (p.Thr2863=) c.8652C>A (p.Thr2884=) c.8649C>A (p.Thr2883=) c.8595C>A (p.Thr2865=) c.8565C>A (p.Thr2855=) c.8520C>A (p.Thr2840=) c.8115C>A (p.Thr2705=) c.7473C>A (p.Thr2491=) c.4983C>A (p.Thr1661=) | ClinVar dbSNP gnomAD v4 |
10 | g.71807667C= | CA1918886607 | CDH23 | c.8460C= (p.Thr2820=) c.2393C= (n.2393C=) c.2057C= (n.2057C=) c.8475C= (p.Thr2825=) c.1740C= (p.Thr580=) n.1996C= c.8655C= (p.Thr2885=) c.8589C= (p.Thr2863=) c.8652C= (p.Thr2884=) c.8649C= (p.Thr2883=) c.8595C= (p.Thr2865=) c.8565C= (p.Thr2855=) c.8520C= (p.Thr2840=) c.8115C= (p.Thr2705=) c.7473C= (p.Thr2491=) c.4983C= (p.Thr1661=) | |
10 | g.71807667C>G | CA470282527 | CDH23 | c.8460C>G (p.Thr2820=) c.2393C>G (n.2393C>G) c.2057C>G (n.2057C>G) c.8475C>G (p.Thr2825=) c.1740C>G (p.Thr580=) n.1996C>G c.8655C>G (p.Thr2885=) c.8589C>G (p.Thr2863=) c.8652C>G (p.Thr2884=) c.8649C>G (p.Thr2883=) c.8595C>G (p.Thr2865=) c.8565C>G (p.Thr2855=) c.8520C>G (p.Thr2840=) c.8115C>G (p.Thr2705=) c.7473C>G (p.Thr2491=) c.4983C>G (p.Thr1661=) | |
10 | g.71807667C>T | CA470282528 | CDH23 | c.8460C>T (p.Thr2820=) c.2393C>T (n.2393C>T) c.2057C>T (n.2057C>T) c.8475C>T (p.Thr2825=) c.1740C>T (p.Thr580=) n.1996C>T c.8655C>T (p.Thr2885=) c.8589C>T (p.Thr2863=) c.8652C>T (p.Thr2884=) c.8649C>T (p.Thr2883=) c.8595C>T (p.Thr2865=) c.8565C>T (p.Thr2855=) c.8520C>T (p.Thr2840=) c.8115C>T (p.Thr2705=) c.7473C>T (p.Thr2491=) c.4983C>T (p.Thr1661=) | |
10 | g.71807668C>A | CA377131585 | CDH23 | c.8461C>A (p.Leu2821Ile) c.2394C>A (n.2394C>A) c.2058C>A (n.2058C>A) c.8476C>A (p.Leu2826Ile) c.1741C>A (p.Leu581Ile) n.1997C>A c.8656C>A (p.Leu2886Ile) c.8590C>A (p.Leu2864Ile) c.8653C>A (p.Leu2885Ile) c.8650C>A (p.Leu2884Ile) c.8596C>A (p.Leu2866Ile) c.8566C>A (p.Leu2856Ile) c.8521C>A (p.Leu2841Ile) c.8116C>A (p.Leu2706Ile) c.7474C>A (p.Leu2492Ile) c.4984C>A (p.Leu1662Ile) | |
10 | g.71807668C= | CA1918886610 | CDH23 | c.8461C= (p.Leu2821=) c.2394C= (n.2394C=) c.2058C= (n.2058C=) c.8476C= (p.Leu2826=) c.1741C= (p.Leu581=) n.1997C= c.8656C= (p.Leu2886=) c.8590C= (p.Leu2864=) c.8653C= (p.Leu2885=) c.8650C= (p.Leu2884=) c.8596C= (p.Leu2866=) c.8566C= (p.Leu2856=) c.8521C= (p.Leu2841=) c.8116C= (p.Leu2706=) c.7474C= (p.Leu2492=) c.4984C= (p.Leu1662=) | |
10 | g.71807668C>G | CA377131586 | CDH23 | c.8461C>G (p.Leu2821Val) c.2394C>G (n.2394C>G) c.2058C>G (n.2058C>G) c.8476C>G (p.Leu2826Val) c.1741C>G (p.Leu581Val) n.1997C>G c.8656C>G (p.Leu2886Val) c.8590C>G (p.Leu2864Val) c.8653C>G (p.Leu2885Val) c.8650C>G (p.Leu2884Val) c.8596C>G (p.Leu2866Val) c.8566C>G (p.Leu2856Val) c.8521C>G (p.Leu2841Val) c.8116C>G (p.Leu2706Val) c.7474C>G (p.Leu2492Val) c.4984C>G (p.Leu1662Val) | |
10 | g.71807668C>T | CA377131587 | CDH23 | c.8461C>T (p.Leu2821Phe) c.2394C>T (n.2394C>T) c.2058C>T (n.2058C>T) c.8476C>T (p.Leu2826Phe) c.1741C>T (p.Leu581Phe) n.1997C>T c.8656C>T (p.Leu2886Phe) c.8590C>T (p.Leu2864Phe) c.8653C>T (p.Leu2885Phe) c.8650C>T (p.Leu2884Phe) c.8596C>T (p.Leu2866Phe) c.8566C>T (p.Leu2856Phe) c.8521C>T (p.Leu2841Phe) c.8116C>T (p.Leu2706Phe) c.7474C>T (p.Leu2492Phe) c.4984C>T (p.Leu1662Phe) | dbSNP |
10 | g.71807669T>A | CA377131590 | CDH23 | c.8462T>A (p.Leu2821His) c.2395T>A (n.2395T>A) c.2059T>A (n.2059T>A) c.8477T>A (p.Leu2826His) c.1742T>A (p.Leu581His) n.1998T>A c.8657T>A (p.Leu2886His) c.8591T>A (p.Leu2864His) c.8654T>A (p.Leu2885His) c.8651T>A (p.Leu2884His) c.8597T>A (p.Leu2866His) c.8567T>A (p.Leu2856His) c.8522T>A (p.Leu2841His) c.8117T>A (p.Leu2706His) c.7475T>A (p.Leu2492His) c.4985T>A (p.Leu1662His) | |
10 | g.71807669T>C | CA377131588 | CDH23 | c.8462T>C (p.Leu2821Pro) c.2395T>C (n.2395T>C) c.2059T>C (n.2059T>C) c.8477T>C (p.Leu2826Pro) c.1742T>C (p.Leu581Pro) n.1998T>C c.8657T>C (p.Leu2886Pro) c.8591T>C (p.Leu2864Pro) c.8654T>C (p.Leu2885Pro) c.8651T>C (p.Leu2884Pro) c.8597T>C (p.Leu2866Pro) c.8567T>C (p.Leu2856Pro) c.8522T>C (p.Leu2841Pro) c.8117T>C (p.Leu2706Pro) c.7475T>C (p.Leu2492Pro) c.4985T>C (p.Leu1662Pro) | |
10 | g.71807669T>G | CA377131589 | CDH23 | c.8462T>G (p.Leu2821Arg) c.2395T>G (n.2395T>G) c.2059T>G (n.2059T>G) c.8477T>G (p.Leu2826Arg) c.1742T>G (p.Leu581Arg) n.1998T>G c.8657T>G (p.Leu2886Arg) c.8591T>G (p.Leu2864Arg) c.8654T>G (p.Leu2885Arg) c.8651T>G (p.Leu2884Arg) c.8597T>G (p.Leu2866Arg) c.8567T>G (p.Leu2856Arg) c.8522T>G (p.Leu2841Arg) c.8117T>G (p.Leu2706Arg) c.7475T>G (p.Leu2492Arg) c.4985T>G (p.Leu1662Arg) | |
10 | g.71807669dup | CA2695212120 | CDH23 | c.8462dup (p.Asp2822ArgfsTer5) c.2395dup (n.2395dup) c.2059dup (n.2059dup) c.8477dup (p.Asp2827ArgfsTer5) c.1742dup (p.Asp582ArgfsTer5) n.1998dup c.8657dup (p.Asp2887ArgfsTer5) c.8591dup (p.Asp2865ArgfsTer5) c.8654dup (p.Asp2886ArgfsTer5) c.8651dup (p.Asp2885ArgfsTer5) c.8597dup (p.Asp2867ArgfsTer5) c.8567dup (p.Asp2857ArgfsTer5) c.8522dup (p.Asp2842ArgfsTer5) c.8117dup (p.Asp2707ArgfsTer5) c.7475dup (p.Asp2493ArgfsTer5) c.4985dup (p.Asp1663ArgfsTer5) | |
10 | g.71807670C>A | CA470282530 | CDH23 | c.8463C>A (p.Leu2821=) c.2396C>A (n.2396C>A) c.2060C>A (n.2060C>A) c.8478C>A (p.Leu2826=) c.1743C>A (p.Leu581=) n.1999C>A c.8658C>A (p.Leu2886=) c.8592C>A (p.Leu2864=) c.8655C>A (p.Leu2885=) c.8652C>A (p.Leu2884=) c.8598C>A (p.Leu2866=) c.8568C>A (p.Leu2856=) c.8523C>A (p.Leu2841=) c.8118C>A (p.Leu2706=) c.7476C>A (p.Leu2492=) c.4986C>A (p.Leu1662=) | |
10 | g.71807670C= | CA1918886613 | CDH23 | c.8463C= (p.Leu2821=) c.2396C= (n.2396C=) c.2060C= (n.2060C=) c.8478C= (p.Leu2826=) c.1743C= (p.Leu581=) n.1999C= c.8658C= (p.Leu2886=) c.8592C= (p.Leu2864=) c.8655C= (p.Leu2885=) c.8652C= (p.Leu2884=) c.8598C= (p.Leu2866=) c.8568C= (p.Leu2856=) c.8523C= (p.Leu2841=) c.8118C= (p.Leu2706=) c.7476C= (p.Leu2492=) c.4986C= (p.Leu1662=) | |
10 | g.71807670C>G | CA470282531 | CDH23 | c.8463C>G (p.Leu2821=) c.2396C>G (n.2396C>G) c.2060C>G (n.2060C>G) c.8478C>G (p.Leu2826=) c.1743C>G (p.Leu581=) n.1999C>G c.8658C>G (p.Leu2886=) c.8592C>G (p.Leu2864=) c.8655C>G (p.Leu2885=) c.8652C>G (p.Leu2884=) c.8598C>G (p.Leu2866=) c.8568C>G (p.Leu2856=) c.8523C>G (p.Leu2841=) c.8118C>G (p.Leu2706=) c.7476C>G (p.Leu2492=) c.4986C>G (p.Leu1662=) | |
10 | g.71807670C>T | CA470282532 | CDH23 | c.8463C>T (p.Leu2821=) c.2396C>T (n.2396C>T) c.2060C>T (n.2060C>T) c.8478C>T (p.Leu2826=) c.1743C>T (p.Leu581=) n.1999C>T c.8658C>T (p.Leu2886=) c.8592C>T (p.Leu2864=) c.8655C>T (p.Leu2885=) c.8652C>T (p.Leu2884=) c.8598C>T (p.Leu2866=) c.8568C>T (p.Leu2856=) c.8523C>T (p.Leu2841=) c.8118C>T (p.Leu2706=) c.7476C>T (p.Leu2492=) c.4986C>T (p.Leu1662=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.71807671G>A | CA5546660 | CDH23 | c.8464G>A (p.Asp2822Asn) c.2397G>A (n.2397G>A) c.2061G>A (n.2061G>A) c.8479G>A (p.Asp2827Asn) c.1744G>A (p.Asp582Asn) n.2000G>A c.8659G>A (p.Asp2887Asn) c.8593G>A (p.Asp2865Asn) c.8656G>A (p.Asp2886Asn) c.8653G>A (p.Asp2885Asn) c.8599G>A (p.Asp2867Asn) c.8569G>A (p.Asp2857Asn) c.8524G>A (p.Asp2842Asn) c.8119G>A (p.Asp2707Asn) c.7477G>A (p.Asp2493Asn) c.4987G>A (p.Asp1663Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71807671G>C | CA377131591 | CDH23 | c.8464G>C (p.Asp2822His) c.2397G>C (n.2397G>C) c.2061G>C (n.2061G>C) c.8479G>C (p.Asp2827His) c.1744G>C (p.Asp582His) n.2000G>C c.8659G>C (p.Asp2887His) c.8593G>C (p.Asp2865His) c.8656G>C (p.Asp2886His) c.8653G>C (p.Asp2885His) c.8599G>C (p.Asp2867His) c.8569G>C (p.Asp2857His) c.8524G>C (p.Asp2842His) c.8119G>C (p.Asp2707His) c.7477G>C (p.Asp2493His) c.4987G>C (p.Asp1663His) | dbSNP gnomAD v4 |
10 | g.71807671G= | CA1918886619 | CDH23 | c.8464G= (p.Asp2822=) c.2397G= (n.2397G=) c.2061G= (n.2061G=) c.8479G= (p.Asp2827=) c.1744G= (p.Asp582=) n.2000G= c.8659G= (p.Asp2887=) c.8593G= (p.Asp2865=) c.8656G= (p.Asp2886=) c.8653G= (p.Asp2885=) c.8599G= (p.Asp2867=) c.8569G= (p.Asp2857=) c.8524G= (p.Asp2842=) c.8119G= (p.Asp2707=) c.7477G= (p.Asp2493=) c.4987G= (p.Asp1663=) | |
10 | g.71807671G>T | CA377131592 | CDH23 | c.8464G>T (p.Asp2822Tyr) c.2397G>T (n.2397G>T) c.2061G>T (n.2061G>T) c.8479G>T (p.Asp2827Tyr) c.1744G>T (p.Asp582Tyr) n.2000G>T c.8659G>T (p.Asp2887Tyr) c.8593G>T (p.Asp2865Tyr) c.8656G>T (p.Asp2886Tyr) c.8653G>T (p.Asp2885Tyr) c.8599G>T (p.Asp2867Tyr) c.8569G>T (p.Asp2857Tyr) c.8524G>T (p.Asp2842Tyr) c.8119G>T (p.Asp2707Tyr) c.7477G>T (p.Asp2493Tyr) c.4987G>T (p.Asp1663Tyr) | |
10 | g.71807671dup | CA2580615507 | CDH23 | c.8464dup (p.Asp2822GlyfsTer5) c.2397dup (n.2397dup) c.2061dup (n.2061dup) c.8479dup (p.Asp2827GlyfsTer5) c.1744dup (p.Asp582GlyfsTer5) n.2000dup c.8659dup (p.Asp2887GlyfsTer5) c.8593dup (p.Asp2865GlyfsTer5) c.8656dup (p.Asp2886GlyfsTer5) c.8653dup (p.Asp2885GlyfsTer5) c.8599dup (p.Asp2867GlyfsTer5) c.8569dup (p.Asp2857GlyfsTer5) c.8524dup (p.Asp2842GlyfsTer5) c.8119dup (p.Asp2707GlyfsTer5) c.7477dup (p.Asp2493GlyfsTer5) c.4987dup (p.Asp1663GlyfsTer5) | ClinVar gnomAD v4 |
10 | g.71807671_71807672delinsGA | CA1918886618 | CDH23 | c.8464_8465delinsGA (p.Asp2822=) c.2397_2398delinsGA (n.2397_2398delinsGA) c.2061_2062delinsGA (n.2061_2062delinsGA) c.8479_8480delinsGA (p.Asp2827=) c.1744_1745delinsGA (p.Asp582=) n.2000_2001delinsGA c.8659_8660delinsGA (p.Asp2887=) c.8593_8594delinsGA (p.Asp2865=) c.8656_8657delinsGA (p.Asp2886=) c.8653_8654delinsGA (p.Asp2885=) c.8599_8600delinsGA (p.Asp2867=) c.8569_8570delinsGA (p.Asp2857=) c.8524_8525delinsGA (p.Asp2842=) c.8119_8120delinsGA (p.Asp2707=) c.7477_7478delinsGA (p.Asp2493=) c.4987_4988delinsGA (p.Asp1663=) | |
10 | g.71807672del | CA5546661 | CDH23 | c.8465del (p.Asp2822AlafsTer15) c.2398del (n.2398del) c.2062del (n.2062del) c.8480del (p.Asp2827AlafsTer15) c.1745del (p.Asp582AlafsTer15) n.2001del c.8660del (p.Asp2887AlafsTer15) c.8594del (p.Asp2865AlafsTer15) c.8657del (p.Asp2886AlafsTer15) c.8654del (p.Asp2885AlafsTer15) c.8600del (p.Asp2867AlafsTer15) c.8570del (p.Asp2857AlafsTer15) c.8525del (p.Asp2842AlafsTer15) c.8120del (p.Asp2707AlafsTer15) c.7478del (p.Asp2493AlafsTer15) c.4988del (p.Asp1663AlafsTer15) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71807672A= | CA1918886629 | CDH23 | c.8465A= (p.Asp2822=) c.2398A= (n.2398A=) c.2062A= (n.2062A=) c.8480A= (p.Asp2827=) c.1745A= (p.Asp582=) n.2001A= c.8660A= (p.Asp2887=) c.8594A= (p.Asp2865=) c.8657A= (p.Asp2886=) c.8654A= (p.Asp2885=) c.8600A= (p.Asp2867=) c.8570A= (p.Asp2857=) c.8525A= (p.Asp2842=) c.8120A= (p.Asp2707=) c.7478A= (p.Asp2493=) c.4988A= (p.Asp1663=) | |
10 | g.71807672A>C | CA377131593 | CDH23 | c.8465A>C (p.Asp2822Ala) c.2398A>C (n.2398A>C) c.2062A>C (n.2062A>C) c.8480A>C (p.Asp2827Ala) c.1745A>C (p.Asp582Ala) n.2001A>C c.8660A>C (p.Asp2887Ala) c.8594A>C (p.Asp2865Ala) c.8657A>C (p.Asp2886Ala) c.8654A>C (p.Asp2885Ala) c.8600A>C (p.Asp2867Ala) c.8570A>C (p.Asp2857Ala) c.8525A>C (p.Asp2842Ala) c.8120A>C (p.Asp2707Ala) c.7478A>C (p.Asp2493Ala) c.4988A>C (p.Asp1663Ala) | |
10 | g.71807672A>G | CA5546662 | CDH23 | c.8465A>G (p.Asp2822Gly) c.2398A>G (n.2398A>G) c.2062A>G (n.2062A>G) c.8480A>G (p.Asp2827Gly) c.1745A>G (p.Asp582Gly) n.2001A>G c.8660A>G (p.Asp2887Gly) c.8594A>G (p.Asp2865Gly) c.8657A>G (p.Asp2886Gly) c.8654A>G (p.Asp2885Gly) c.8600A>G (p.Asp2867Gly) c.8570A>G (p.Asp2857Gly) c.8525A>G (p.Asp2842Gly) c.8120A>G (p.Asp2707Gly) c.7478A>G (p.Asp2493Gly) c.4988A>G (p.Asp1663Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71807672A>T | CA377131594 | CDH23 | c.8465A>T (p.Asp2822Val) c.2398A>T (n.2398A>T) c.2062A>T (n.2062A>T) c.8480A>T (p.Asp2827Val) c.1745A>T (p.Asp582Val) n.2001A>T c.8660A>T (p.Asp2887Val) c.8594A>T (p.Asp2865Val) c.8657A>T (p.Asp2886Val) c.8654A>T (p.Asp2885Val) c.8600A>T (p.Asp2867Val) c.8570A>T (p.Asp2857Val) c.8525A>T (p.Asp2842Val) c.8120A>T (p.Asp2707Val) c.7478A>T (p.Asp2493Val) c.4988A>T (p.Asp1663Val) | dbSNP |
10 | g.71807673C>A | CA377131595 | CDH23 | c.8466C>A (p.Asp2822Glu) c.2399C>A (n.2399C>A) c.2063C>A (n.2063C>A) c.8481C>A (p.Asp2827Glu) c.1746C>A (p.Asp582Glu) n.2002C>A c.8661C>A (p.Asp2887Glu) c.8595C>A (p.Asp2865Glu) c.8658C>A (p.Asp2886Glu) c.8655C>A (p.Asp2885Glu) c.8601C>A (p.Asp2867Glu) c.8571C>A (p.Asp2857Glu) c.8526C>A (p.Asp2842Glu) c.8121C>A (p.Asp2707Glu) c.7479C>A (p.Asp2493Glu) c.4989C>A (p.Asp1663Glu) | |
10 | g.71807673C>G | CA377131596 | CDH23 | c.8466C>G (p.Asp2822Glu) c.2399C>G (n.2399C>G) c.2063C>G (n.2063C>G) c.8481C>G (p.Asp2827Glu) c.1746C>G (p.Asp582Glu) n.2002C>G c.8661C>G (p.Asp2887Glu) c.8595C>G (p.Asp2865Glu) c.8658C>G (p.Asp2886Glu) c.8655C>G (p.Asp2885Glu) c.8601C>G (p.Asp2867Glu) c.8571C>G (p.Asp2857Glu) c.8526C>G (p.Asp2842Glu) c.8121C>G (p.Asp2707Glu) c.7479C>G (p.Asp2493Glu) c.4989C>G (p.Asp1663Glu) | |
10 | g.71807673C>T | CA470282537 | CDH23 | c.8466C>T (p.Asp2822=) c.2399C>T (n.2399C>T) c.2063C>T (n.2063C>T) c.8481C>T (p.Asp2827=) c.1746C>T (p.Asp582=) n.2002C>T c.8661C>T (p.Asp2887=) c.8595C>T (p.Asp2865=) c.8658C>T (p.Asp2886=) c.8655C>T (p.Asp2885=) c.8601C>T (p.Asp2867=) c.8571C>T (p.Asp2857=) c.8526C>T (p.Asp2842=) c.8121C>T (p.Asp2707=) c.7479C>T (p.Asp2493=) c.4989C>T (p.Asp1663=) | |
10 | g.71807674C>A | CA377131597 | CDH23 | c.8467C>A (p.Leu2823Met) c.2400C>A (n.2400C>A) c.2064C>A (n.2064C>A) c.8482C>A (p.Leu2828Met) c.1747C>A (p.Leu583Met) n.2003C>A c.8662C>A (p.Leu2888Met) c.8596C>A (p.Leu2866Met) c.8659C>A (p.Leu2887Met) c.8656C>A (p.Leu2886Met) c.8602C>A (p.Leu2868Met) c.8572C>A (p.Leu2858Met) c.8527C>A (p.Leu2843Met) c.8122C>A (p.Leu2708Met) c.7480C>A (p.Leu2494Met) c.4990C>A (p.Leu1664Met) | |
10 | g.71807674C>G | CA377131598 | CDH23 | c.8467C>G (p.Leu2823Val) c.2400C>G (n.2400C>G) c.2064C>G (n.2064C>G) c.8482C>G (p.Leu2828Val) c.1747C>G (p.Leu583Val) n.2003C>G c.8662C>G (p.Leu2888Val) c.8596C>G (p.Leu2866Val) c.8659C>G (p.Leu2887Val) c.8656C>G (p.Leu2886Val) c.8602C>G (p.Leu2868Val) c.8572C>G (p.Leu2858Val) c.8527C>G (p.Leu2843Val) c.8122C>G (p.Leu2708Val) c.7480C>G (p.Leu2494Val) c.4990C>G (p.Leu1664Val) | |
10 | g.71807674C>T | CA470282538 | CDH23 | c.8467C>T (p.Leu2823=) c.2400C>T (n.2400C>T) c.2064C>T (n.2064C>T) c.8482C>T (p.Leu2828=) c.1747C>T (p.Leu583=) n.2003C>T c.8662C>T (p.Leu2888=) c.8596C>T (p.Leu2866=) c.8659C>T (p.Leu2887=) c.8656C>T (p.Leu2886=) c.8602C>T (p.Leu2868=) c.8572C>T (p.Leu2858=) c.8527C>T (p.Leu2843=) c.8122C>T (p.Leu2708=) c.7480C>T (p.Leu2494=) c.4990C>T (p.Leu1664=) | gnomAD v4 |
10 | g.71807675T>A | CA377131601 | CDH23 | c.8468T>A (p.Leu2823Gln) c.2401T>A (n.2401T>A) c.2065T>A (n.2065T>A) c.8483T>A (p.Leu2828Gln) c.1748T>A (p.Leu583Gln) n.2004T>A c.8663T>A (p.Leu2888Gln) c.8597T>A (p.Leu2866Gln) c.8660T>A (p.Leu2887Gln) c.8657T>A (p.Leu2886Gln) c.8603T>A (p.Leu2868Gln) c.8573T>A (p.Leu2858Gln) c.8528T>A (p.Leu2843Gln) c.8123T>A (p.Leu2708Gln) c.7481T>A (p.Leu2494Gln) c.4991T>A (p.Leu1664Gln) | |
10 | g.71807675T>C | CA377131600 | CDH23 | c.8468T>C (p.Leu2823Pro) c.2401T>C (n.2401T>C) c.2065T>C (n.2065T>C) c.8483T>C (p.Leu2828Pro) c.1748T>C (p.Leu583Pro) n.2004T>C c.8663T>C (p.Leu2888Pro) c.8597T>C (p.Leu2866Pro) c.8660T>C (p.Leu2887Pro) c.8657T>C (p.Leu2886Pro) c.8603T>C (p.Leu2868Pro) c.8573T>C (p.Leu2858Pro) c.8528T>C (p.Leu2843Pro) c.8123T>C (p.Leu2708Pro) c.7481T>C (p.Leu2494Pro) c.4991T>C (p.Leu1664Pro) | gnomAD v4 |
10 | g.71807675T>G | CA377131599 | CDH23 | c.8468T>G (p.Leu2823Arg) c.2401T>G (n.2401T>G) c.2065T>G (n.2065T>G) c.8483T>G (p.Leu2828Arg) c.1748T>G (p.Leu583Arg) n.2004T>G c.8663T>G (p.Leu2888Arg) c.8597T>G (p.Leu2866Arg) c.8660T>G (p.Leu2887Arg) c.8657T>G (p.Leu2886Arg) c.8603T>G (p.Leu2868Arg) c.8573T>G (p.Leu2858Arg) c.8528T>G (p.Leu2843Arg) c.8123T>G (p.Leu2708Arg) c.7481T>G (p.Leu2494Arg) c.4991T>G (p.Leu1664Arg) | |
10 | g.71807676G>A | CA470282542 | CDH23 | c.8469G>A (p.Leu2823=) c.2402G>A (n.2402G>A) c.2066G>A (n.2066G>A) c.8484G>A (p.Leu2828=) c.1749G>A (p.Leu583=) n.2005G>A c.8664G>A (p.Leu2888=) c.8598G>A (p.Leu2866=) c.8661G>A (p.Leu2887=) c.8658G>A (p.Leu2886=) c.8604G>A (p.Leu2868=) c.8574G>A (p.Leu2858=) c.8529G>A (p.Leu2843=) c.8124G>A (p.Leu2708=) c.7482G>A (p.Leu2494=) c.4992G>A (p.Leu1664=) | COSMIC |
10 | g.71807676G>C | CA470282539 | CDH23 | c.8469G>C (p.Leu2823=) c.2402G>C (n.2402G>C) c.2066G>C (n.2066G>C) c.8484G>C (p.Leu2828=) c.1749G>C (p.Leu583=) n.2005G>C c.8664G>C (p.Leu2888=) c.8598G>C (p.Leu2866=) c.8661G>C (p.Leu2887=) c.8658G>C (p.Leu2886=) c.8604G>C (p.Leu2868=) c.8574G>C (p.Leu2858=) c.8529G>C (p.Leu2843=) c.8124G>C (p.Leu2708=) c.7482G>C (p.Leu2494=) c.4992G>C (p.Leu1664=) | gnomAD v4 |
10 | g.71807676G= | CA1918886632 | CDH23 | c.8469G= (p.Leu2823=) c.2402G= (n.2402G=) c.2066G= (n.2066G=) c.8484G= (p.Leu2828=) c.1749G= (p.Leu583=) n.2005G= c.8664G= (p.Leu2888=) c.8598G= (p.Leu2866=) c.8661G= (p.Leu2887=) c.8658G= (p.Leu2886=) c.8604G= (p.Leu2868=) c.8574G= (p.Leu2858=) c.8529G= (p.Leu2843=) c.8124G= (p.Leu2708=) c.7482G= (p.Leu2494=) c.4992G= (p.Leu1664=) | |
10 | g.71807676G>T | CA470282540 | CDH23 | c.8469G>T (p.Leu2823=) c.2402G>T (n.2402G>T) c.2066G>T (n.2066G>T) c.8484G>T (p.Leu2828=) c.1749G>T (p.Leu583=) n.2005G>T c.8664G>T (p.Leu2888=) c.8598G>T (p.Leu2866=) c.8661G>T (p.Leu2887=) c.8658G>T (p.Leu2886=) c.8604G>T (p.Leu2868=) c.8574G>T (p.Leu2858=) c.8529G>T (p.Leu2843=) c.8124G>T (p.Leu2708=) c.7482G>T (p.Leu2494=) c.4992G>T (p.Leu1664=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71807677G>A | CA377131604 | CDH23 | c.8470G>A (p.Val2824Ile) c.2403G>A (n.2403G>A) c.2067G>A (n.2067G>A) c.8485G>A (p.Val2829Ile) c.1750G>A (p.Val584Ile) n.2006G>A c.8665G>A (p.Val2889Ile) c.8599G>A (p.Val2867Ile) c.8662G>A (p.Val2888Ile) c.8659G>A (p.Val2887Ile) c.8605G>A (p.Val2869Ile) c.8575G>A (p.Val2859Ile) c.8530G>A (p.Val2844Ile) c.8125G>A (p.Val2709Ile) c.7483G>A (p.Val2495Ile) c.4993G>A (p.Val1665Ile) | |
10 | g.71807677G>C | CA377131602 | CDH23 | c.8470G>C (p.Val2824Leu) c.2403G>C (n.2403G>C) c.2067G>C (n.2067G>C) c.8485G>C (p.Val2829Leu) c.1750G>C (p.Val584Leu) n.2006G>C c.8665G>C (p.Val2889Leu) c.8599G>C (p.Val2867Leu) c.8662G>C (p.Val2888Leu) c.8659G>C (p.Val2887Leu) c.8605G>C (p.Val2869Leu) c.8575G>C (p.Val2859Leu) c.8530G>C (p.Val2844Leu) c.8125G>C (p.Val2709Leu) c.7483G>C (p.Val2495Leu) c.4993G>C (p.Val1665Leu) | COSMIC |
10 | g.71807677G= | CA1918886634 | CDH23 | c.8470G= (p.Val2824=) c.2403G= (n.2403G=) c.2067G= (n.2067G=) c.8485G= (p.Val2829=) c.1750G= (p.Val584=) n.2006G= c.8665G= (p.Val2889=) c.8599G= (p.Val2867=) c.8662G= (p.Val2888=) c.8659G= (p.Val2887=) c.8605G= (p.Val2869=) c.8575G= (p.Val2859=) c.8530G= (p.Val2844=) c.8125G= (p.Val2709=) c.7483G= (p.Val2495=) c.4993G= (p.Val1665=) | |
10 | g.71807677G>T | CA377131603 | CDH23 | c.8470G>T (p.Val2824Phe) c.2403G>T (n.2403G>T) c.2067G>T (n.2067G>T) c.8485G>T (p.Val2829Phe) c.1750G>T (p.Val584Phe) n.2006G>T c.8665G>T (p.Val2889Phe) c.8599G>T (p.Val2867Phe) c.8662G>T (p.Val2888Phe) c.8659G>T (p.Val2887Phe) c.8605G>T (p.Val2869Phe) c.8575G>T (p.Val2859Phe) c.8530G>T (p.Val2844Phe) c.8125G>T (p.Val2709Phe) c.7483G>T (p.Val2495Phe) c.4993G>T (p.Val1665Phe) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71807678T>A | CA377131605 | CDH23 | c.8471T>A (p.Val2824Asp) c.2404T>A (n.2404T>A) c.2068T>A (n.2068T>A) c.8486T>A (p.Val2829Asp) c.1751T>A (p.Val584Asp) n.2007T>A c.8666T>A (p.Val2889Asp) c.8600T>A (p.Val2867Asp) c.8663T>A (p.Val2888Asp) c.8660T>A (p.Val2887Asp) c.8606T>A (p.Val2869Asp) c.8576T>A (p.Val2859Asp) c.8531T>A (p.Val2844Asp) c.8126T>A (p.Val2709Asp) c.7484T>A (p.Val2495Asp) c.4994T>A (p.Val1665Asp) | |
10 | g.71807678T>C | CA377131606 | CDH23 | c.8471T>C (p.Val2824Ala) c.2404T>C (n.2404T>C) c.2068T>C (n.2068T>C) c.8486T>C (p.Val2829Ala) c.1751T>C (p.Val584Ala) n.2007T>C c.8666T>C (p.Val2889Ala) c.8600T>C (p.Val2867Ala) c.8663T>C (p.Val2888Ala) c.8660T>C (p.Val2887Ala) c.8606T>C (p.Val2869Ala) c.8576T>C (p.Val2859Ala) c.8531T>C (p.Val2844Ala) c.8126T>C (p.Val2709Ala) c.7484T>C (p.Val2495Ala) c.4994T>C (p.Val1665Ala) | |
10 | g.71807678T>G | CA377131607 | CDH23 | c.8471T>G (p.Val2824Gly) c.2404T>G (n.2404T>G) c.2068T>G (n.2068T>G) c.8486T>G (p.Val2829Gly) c.1751T>G (p.Val584Gly) n.2007T>G c.8666T>G (p.Val2889Gly) c.8600T>G (p.Val2867Gly) c.8663T>G (p.Val2888Gly) c.8660T>G (p.Val2887Gly) c.8606T>G (p.Val2869Gly) c.8576T>G (p.Val2859Gly) c.8531T>G (p.Val2844Gly) c.8126T>G (p.Val2709Gly) c.7484T>G (p.Val2495Gly) c.4994T>G (p.Val1665Gly) | |
10 | g.71807679T>A | CA470282546 | CDH23 | c.8472T>A (p.Val2824=) c.2405T>A (n.2405T>A) c.2069T>A (n.2069T>A) c.8487T>A (p.Val2829=) c.1752T>A (p.Val584=) n.2008T>A c.8667T>A (p.Val2889=) c.8601T>A (p.Val2867=) c.8664T>A (p.Val2888=) c.8661T>A (p.Val2887=) c.8607T>A (p.Val2869=) c.8577T>A (p.Val2859=) c.8532T>A (p.Val2844=) c.8127T>A (p.Val2709=) c.7485T>A (p.Val2495=) c.4995T>A (p.Val1665=) | |
10 | g.71807679T>C | CA470282547 | CDH23 | c.8472T>C (p.Val2824=) c.2405T>C (n.2405T>C) c.2069T>C (n.2069T>C) c.8487T>C (p.Val2829=) c.1752T>C (p.Val584=) n.2008T>C c.8667T>C (p.Val2889=) c.8601T>C (p.Val2867=) c.8664T>C (p.Val2888=) c.8661T>C (p.Val2887=) c.8607T>C (p.Val2869=) c.8577T>C (p.Val2859=) c.8532T>C (p.Val2844=) c.8127T>C (p.Val2709=) c.7485T>C (p.Val2495=) c.4995T>C (p.Val1665=) | |
10 | g.71807679T>G | CA470282548 | CDH23 | c.8472T>G (p.Val2824=) c.2405T>G (n.2405T>G) c.2069T>G (n.2069T>G) c.8487T>G (p.Val2829=) c.1752T>G (p.Val584=) n.2008T>G c.8667T>G (p.Val2889=) c.8601T>G (p.Val2867=) c.8664T>G (p.Val2888=) c.8661T>G (p.Val2887=) c.8607T>G (p.Val2869=) c.8577T>G (p.Val2859=) c.8532T>G (p.Val2844=) c.8127T>G (p.Val2709=) c.7485T>G (p.Val2495=) c.4995T>G (p.Val1665=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.71807679T= | CA1918886636 | CDH23 | c.8472T= (p.Val2824=) c.2405T= (n.2405T=) c.2069T= (n.2069T=) c.8487T= (p.Val2829=) c.1752T= (p.Val584=) n.2008T= c.8667T= (p.Val2889=) c.8601T= (p.Val2867=) c.8664T= (p.Val2888=) c.8661T= (p.Val2887=) c.8607T= (p.Val2869=) c.8577T= (p.Val2859=) c.8532T= (p.Val2844=) c.8127T= (p.Val2709=) c.7485T= (p.Val2495=) c.4995T= (p.Val1665=) | |
10 | g.71807680G>A | CA377131610 | CDH23 | c.8473G>A (p.Ala2825Thr) c.2406G>A (n.2406G>A) c.2070G>A (n.2070G>A) c.8488G>A (p.Ala2830Thr) c.1753G>A (p.Ala585Thr) n.2009G>A c.8668G>A (p.Ala2890Thr) c.8602G>A (p.Ala2868Thr) c.8665G>A (p.Ala2889Thr) c.8662G>A (p.Ala2888Thr) c.8608G>A (p.Ala2870Thr) c.8578G>A (p.Ala2860Thr) c.8533G>A (p.Ala2845Thr) c.8128G>A (p.Ala2710Thr) c.7486G>A (p.Ala2496Thr) c.4996G>A (p.Ala1666Thr) | dbSNP |
10 | g.71807680G>C | CA377131609 | CDH23 | c.8473G>C (p.Ala2825Pro) c.2406G>C (n.2406G>C) c.2070G>C (n.2070G>C) c.8488G>C (p.Ala2830Pro) c.1753G>C (p.Ala585Pro) n.2009G>C c.8668G>C (p.Ala2890Pro) c.8602G>C (p.Ala2868Pro) c.8665G>C (p.Ala2889Pro) c.8662G>C (p.Ala2888Pro) c.8608G>C (p.Ala2870Pro) c.8578G>C (p.Ala2860Pro) c.8533G>C (p.Ala2845Pro) c.8128G>C (p.Ala2710Pro) c.7486G>C (p.Ala2496Pro) c.4996G>C (p.Ala1666Pro) | dbSNP |
10 | g.71807680G>T | CA377131608 | CDH23 | c.8473G>T (p.Ala2825Ser) c.2406G>T (n.2406G>T) c.2070G>T (n.2070G>T) c.8488G>T (p.Ala2830Ser) c.1753G>T (p.Ala585Ser) n.2009G>T c.8668G>T (p.Ala2890Ser) c.8602G>T (p.Ala2868Ser) c.8665G>T (p.Ala2889Ser) c.8662G>T (p.Ala2888Ser) c.8608G>T (p.Ala2870Ser) c.8578G>T (p.Ala2860Ser) c.8533G>T (p.Ala2845Ser) c.8128G>T (p.Ala2710Ser) c.7486G>T (p.Ala2496Ser) c.4996G>T (p.Ala1666Ser) | |
10 | g.71807681C>A | CA377131611 | CDH23 | c.8474C>A (p.Ala2825Asp) c.2407C>A (n.2407C>A) c.2071C>A (n.2071C>A) c.8489C>A (p.Ala2830Asp) c.1754C>A (p.Ala585Asp) n.2010C>A c.8669C>A (p.Ala2890Asp) c.8603C>A (p.Ala2868Asp) c.8666C>A (p.Ala2889Asp) c.8663C>A (p.Ala2888Asp) c.8609C>A (p.Ala2870Asp) c.8579C>A (p.Ala2860Asp) c.8534C>A (p.Ala2845Asp) c.8129C>A (p.Ala2710Asp) c.7487C>A (p.Ala2496Asp) c.4997C>A (p.Ala1666Asp) | |
10 | g.71807681C>G | CA377131612 | CDH23 | c.8474C>G (p.Ala2825Gly) c.2407C>G (n.2407C>G) c.2071C>G (n.2071C>G) c.8489C>G (p.Ala2830Gly) c.1754C>G (p.Ala585Gly) n.2010C>G c.8669C>G (p.Ala2890Gly) c.8603C>G (p.Ala2868Gly) c.8666C>G (p.Ala2889Gly) c.8663C>G (p.Ala2888Gly) c.8609C>G (p.Ala2870Gly) c.8579C>G (p.Ala2860Gly) c.8534C>G (p.Ala2845Gly) c.8129C>G (p.Ala2710Gly) c.7487C>G (p.Ala2496Gly) c.4997C>G (p.Ala1666Gly) | |
10 | g.71807681C>T | CA377131613 | CDH23 | c.8474C>T (p.Ala2825Val) c.2407C>T (n.2407C>T) c.2071C>T (n.2071C>T) c.8489C>T (p.Ala2830Val) c.1754C>T (p.Ala585Val) n.2010C>T c.8669C>T (p.Ala2890Val) c.8603C>T (p.Ala2868Val) c.8666C>T (p.Ala2889Val) c.8663C>T (p.Ala2888Val) c.8609C>T (p.Ala2870Val) c.8579C>T (p.Ala2860Val) c.8534C>T (p.Ala2845Val) c.8129C>T (p.Ala2710Val) c.7487C>T (p.Ala2496Val) c.4997C>T (p.Ala1666Val) | dbSNP |
10 | g.71807682T>A | CA470282552 | CDH23 | c.8475T>A (p.Ala2825=) c.2408T>A (n.2408T>A) c.2072T>A (n.2072T>A) c.8490T>A (p.Ala2830=) c.1755T>A (p.Ala585=) n.2011T>A c.8670T>A (p.Ala2890=) c.8604T>A (p.Ala2868=) c.8667T>A (p.Ala2889=) c.8664T>A (p.Ala2888=) c.8610T>A (p.Ala2870=) c.8580T>A (p.Ala2860=) c.8535T>A (p.Ala2845=) c.8130T>A (p.Ala2710=) c.7488T>A (p.Ala2496=) c.4998T>A (p.Ala1666=) | |
10 | g.71807682T>C | CA470282553 | CDH23 | c.8475T>C (p.Ala2825=) c.2408T>C (n.2408T>C) c.2072T>C (n.2072T>C) c.8490T>C (p.Ala2830=) c.1755T>C (p.Ala585=) n.2011T>C c.8670T>C (p.Ala2890=) c.8604T>C (p.Ala2868=) c.8667T>C (p.Ala2889=) c.8664T>C (p.Ala2888=) c.8610T>C (p.Ala2870=) c.8580T>C (p.Ala2860=) c.8535T>C (p.Ala2845=) c.8130T>C (p.Ala2710=) c.7488T>C (p.Ala2496=) c.4998T>C (p.Ala1666=) | |
10 | g.71807682T>G | CA470282554 | CDH23 | c.8475T>G (p.Ala2825=) c.2408T>G (n.2408T>G) c.2072T>G (n.2072T>G) c.8490T>G (p.Ala2830=) c.1755T>G (p.Ala585=) n.2011T>G c.8670T>G (p.Ala2890=) c.8604T>G (p.Ala2868=) c.8667T>G (p.Ala2889=) c.8664T>G (p.Ala2888=) c.8610T>G (p.Ala2870=) c.8580T>G (p.Ala2860=) c.8535T>G (p.Ala2845=) c.8130T>G (p.Ala2710=) c.7488T>G (p.Ala2496=) c.4998T>G (p.Ala1666=) | |
10 | g.71807683G>A | CA377131614 | CDH23 | c.8476G>A (p.Asp2826Asn) c.2409G>A (n.2409G>A) c.2073G>A (n.2073G>A) c.8491G>A (p.Asp2831Asn) c.1756G>A (p.Asp586Asn) n.2012G>A c.8671G>A (p.Asp2891Asn) c.8605G>A (p.Asp2869Asn) c.8668G>A (p.Asp2890Asn) c.8665G>A (p.Asp2889Asn) c.8611G>A (p.Asp2871Asn) c.8581G>A (p.Asp2861Asn) c.8536G>A (p.Asp2846Asn) c.8131G>A (p.Asp2711Asn) c.7489G>A (p.Asp2497Asn) c.4999G>A (p.Asp1667Asn) | |
10 | g.71807683G>C | CA377131615 | CDH23 | c.8476G>C (p.Asp2826His) c.2409G>C (n.2409G>C) c.2073G>C (n.2073G>C) c.8491G>C (p.Asp2831His) c.1756G>C (p.Asp586His) n.2012G>C c.8671G>C (p.Asp2891His) c.8605G>C (p.Asp2869His) c.8668G>C (p.Asp2890His) c.8665G>C (p.Asp2889His) c.8611G>C (p.Asp2871His) c.8581G>C (p.Asp2861His) c.8536G>C (p.Asp2846His) c.8131G>C (p.Asp2711His) c.7489G>C (p.Asp2497His) c.4999G>C (p.Asp1667His) | |
10 | g.71807683G>T | CA377131616 | CDH23 | c.8476G>T (p.Asp2826Tyr) c.2409G>T (n.2409G>T) c.2073G>T (n.2073G>T) c.8491G>T (p.Asp2831Tyr) c.1756G>T (p.Asp586Tyr) n.2012G>T c.8671G>T (p.Asp2891Tyr) c.8605G>T (p.Asp2869Tyr) c.8668G>T (p.Asp2890Tyr) c.8665G>T (p.Asp2889Tyr) c.8611G>T (p.Asp2871Tyr) c.8581G>T (p.Asp2861Tyr) c.8536G>T (p.Asp2846Tyr) c.8131G>T (p.Asp2711Tyr) c.7489G>T (p.Asp2497Tyr) c.4999G>T (p.Asp1667Tyr) | |
10 | g.71807684A>C | CA377131617 | CDH23 | c.8477A>C (p.Asp2826Ala) c.2410A>C (n.2410A>C) c.2074A>C (n.2074A>C) c.8492A>C (p.Asp2831Ala) c.1757A>C (p.Asp586Ala) n.2013A>C c.8672A>C (p.Asp2891Ala) c.8606A>C (p.Asp2869Ala) c.8669A>C (p.Asp2890Ala) c.8666A>C (p.Asp2889Ala) c.8612A>C (p.Asp2871Ala) c.8582A>C (p.Asp2861Ala) c.8537A>C (p.Asp2846Ala) c.8132A>C (p.Asp2711Ala) c.7490A>C (p.Asp2497Ala) c.5000A>C (p.Asp1667Ala) | |
10 | g.71807684A>G | CA377131619 | CDH23 | c.8477A>G (p.Asp2826Gly) c.2410A>G (n.2410A>G) c.2074A>G (n.2074A>G) c.8492A>G (p.Asp2831Gly) c.1757A>G (p.Asp586Gly) n.2013A>G c.8672A>G (p.Asp2891Gly) c.8606A>G (p.Asp2869Gly) c.8669A>G (p.Asp2890Gly) c.8666A>G (p.Asp2889Gly) c.8612A>G (p.Asp2871Gly) c.8582A>G (p.Asp2861Gly) c.8537A>G (p.Asp2846Gly) c.8132A>G (p.Asp2711Gly) c.7490A>G (p.Asp2497Gly) c.5000A>G (p.Asp1667Gly) | |
10 | g.71807684A>T | CA377131618 | CDH23 | c.8477A>T (p.Asp2826Val) c.2410A>T (n.2410A>T) c.2074A>T (n.2074A>T) c.8492A>T (p.Asp2831Val) c.1757A>T (p.Asp586Val) n.2013A>T c.8672A>T (p.Asp2891Val) c.8606A>T (p.Asp2869Val) c.8669A>T (p.Asp2890Val) c.8666A>T (p.Asp2889Val) c.8612A>T (p.Asp2871Val) c.8582A>T (p.Asp2861Val) c.8537A>T (p.Asp2846Val) c.8132A>T (p.Asp2711Val) c.7490A>T (p.Asp2497Val) c.5000A>T (p.Asp1667Val) | |
10 | g.71807685C>A | CA377131620 | CDH23 | c.8478C>A (p.Asp2826Glu) c.2411C>A (n.2411C>A) c.2075C>A (n.2075C>A) c.8493C>A (p.Asp2831Glu) c.1758C>A (p.Asp586Glu) n.2014C>A c.8673C>A (p.Asp2891Glu) c.8607C>A (p.Asp2869Glu) c.8670C>A (p.Asp2890Glu) c.8667C>A (p.Asp2889Glu) c.8613C>A (p.Asp2871Glu) c.8583C>A (p.Asp2861Glu) c.8538C>A (p.Asp2846Glu) c.8133C>A (p.Asp2711Glu) c.7491C>A (p.Asp2497Glu) c.5001C>A (p.Asp1667Glu) | dbSNP |
10 | g.71807685C>G | CA377131621 | CDH23 | c.8478C>G (p.Asp2826Glu) c.2411C>G (n.2411C>G) c.2075C>G (n.2075C>G) c.8493C>G (p.Asp2831Glu) c.1758C>G (p.Asp586Glu) n.2014C>G c.8673C>G (p.Asp2891Glu) c.8607C>G (p.Asp2869Glu) c.8670C>G (p.Asp2890Glu) c.8667C>G (p.Asp2889Glu) c.8613C>G (p.Asp2871Glu) c.8583C>G (p.Asp2861Glu) c.8538C>G (p.Asp2846Glu) c.8133C>G (p.Asp2711Glu) c.7491C>G (p.Asp2497Glu) c.5001C>G (p.Asp1667Glu) | |
10 | g.71807685C>T | CA470282556 | CDH23 | c.8478C>T (p.Asp2826=) c.2411C>T (n.2411C>T) c.2075C>T (n.2075C>T) c.8493C>T (p.Asp2831=) c.1758C>T (p.Asp586=) n.2014C>T c.8673C>T (p.Asp2891=) c.8607C>T (p.Asp2869=) c.8670C>T (p.Asp2890=) c.8667C>T (p.Asp2889=) c.8613C>T (p.Asp2871=) c.8583C>T (p.Asp2861=) c.8538C>T (p.Asp2846=) c.8133C>T (p.Asp2711=) c.7491C>T (p.Asp2497=) c.5001C>T (p.Asp1667=) | gnomAD v4 |
10 | g.71807686C>A | CA377131622 | CDH23 | c.8479C>A (p.Leu2827Ile) c.2412C>A (n.2412C>A) c.2076C>A (n.2076C>A) c.8494C>A (p.Leu2832Ile) c.1759C>A (p.Leu587Ile) n.2015C>A c.8674C>A (p.Leu2892Ile) c.8608C>A (p.Leu2870Ile) c.8671C>A (p.Leu2891Ile) c.8668C>A (p.Leu2890Ile) c.8614C>A (p.Leu2872Ile) c.8584C>A (p.Leu2862Ile) c.8539C>A (p.Leu2847Ile) c.8134C>A (p.Leu2712Ile) c.7492C>A (p.Leu2498Ile) c.5002C>A (p.Leu1668Ile) | |
10 | g.71807686C= | CA1918886640 | CDH23 | c.8479C= (p.Leu2827=) c.2412C= (n.2412C=) c.2076C= (n.2076C=) c.8494C= (p.Leu2832=) c.1759C= (p.Leu587=) n.2015C= c.8674C= (p.Leu2892=) c.8608C= (p.Leu2870=) c.8671C= (p.Leu2891=) c.8668C= (p.Leu2890=) c.8614C= (p.Leu2872=) c.8584C= (p.Leu2862=) c.8539C= (p.Leu2847=) c.8134C= (p.Leu2712=) c.7492C= (p.Leu2498=) c.5002C= (p.Leu1668=) | |
10 | g.71807686C>G | CA377131623 | CDH23 | c.8479C>G (p.Leu2827Val) c.2412C>G (n.2412C>G) c.2076C>G (n.2076C>G) c.8494C>G (p.Leu2832Val) c.1759C>G (p.Leu587Val) n.2015C>G c.8674C>G (p.Leu2892Val) c.8608C>G (p.Leu2870Val) c.8671C>G (p.Leu2891Val) c.8668C>G (p.Leu2890Val) c.8614C>G (p.Leu2872Val) c.8584C>G (p.Leu2862Val) c.8539C>G (p.Leu2847Val) c.8134C>G (p.Leu2712Val) c.7492C>G (p.Leu2498Val) c.5002C>G (p.Leu1668Val) | |
10 | g.71807686C>T | CA377131624 | CDH23 | c.8479C>T (p.Leu2827Phe) c.2412C>T (n.2412C>T) c.2076C>T (n.2076C>T) c.8494C>T (p.Leu2832Phe) c.1759C>T (p.Leu587Phe) n.2015C>T c.8674C>T (p.Leu2892Phe) c.8608C>T (p.Leu2870Phe) c.8671C>T (p.Leu2891Phe) c.8668C>T (p.Leu2890Phe) c.8614C>T (p.Leu2872Phe) c.8584C>T (p.Leu2862Phe) c.8539C>T (p.Leu2847Phe) c.8134C>T (p.Leu2712Phe) c.7492C>T (p.Leu2498Phe) c.5002C>T (p.Leu1668Phe) | ClinVar dbSNP |
10 | g.71807687_71807688del | CA2695212121 | CDH23 | c.8480_8481del (p.Leu2827HisfsTer23) c.2413_2414del (n.2413_2414del) c.2077_2078del (n.2077_2078del) c.8495_8496del (p.Leu2832HisfsTer23) c.1760_1761del (p.Leu587HisfsTer23) n.2016_2017del c.8675_8676del (p.Leu2892HisfsTer23) c.8609_8610del (p.Leu2870HisfsTer23) c.8672_8673del (p.Leu2891HisfsTer23) c.8669_8670del (p.Leu2890HisfsTer23) c.8615_8616del (p.Leu2872HisfsTer23) c.8585_8586del (p.Leu2862HisfsTer23) c.8540_8541del (p.Leu2847HisfsTer23) c.8135_8136del (p.Leu2712HisfsTer23) c.7493_7494del (p.Leu2498HisfsTer23) c.5003_5004del (p.Leu1668HisfsTer23) | |
10 | g.71807687T>A | CA377131625 | CDH23 | c.8480T>A (p.Leu2827His) c.2413T>A (n.2413T>A) c.2077T>A (n.2077T>A) c.8495T>A (p.Leu2832His) c.1760T>A (p.Leu587His) n.2016T>A c.8675T>A (p.Leu2892His) c.8609T>A (p.Leu2870His) c.8672T>A (p.Leu2891His) c.8669T>A (p.Leu2890His) c.8615T>A (p.Leu2872His) c.8585T>A (p.Leu2862His) c.8540T>A (p.Leu2847His) c.8135T>A (p.Leu2712His) c.7493T>A (p.Leu2498His) c.5003T>A (p.Leu1668His) | |
10 | g.71807687T>C | CA377131626 | CDH23 | c.8480T>C (p.Leu2827Pro) c.2413T>C (n.2413T>C) c.2077T>C (n.2077T>C) c.8495T>C (p.Leu2832Pro) c.1760T>C (p.Leu587Pro) n.2016T>C c.8675T>C (p.Leu2892Pro) c.8609T>C (p.Leu2870Pro) c.8672T>C (p.Leu2891Pro) c.8669T>C (p.Leu2890Pro) c.8615T>C (p.Leu2872Pro) c.8585T>C (p.Leu2862Pro) c.8540T>C (p.Leu2847Pro) c.8135T>C (p.Leu2712Pro) c.7493T>C (p.Leu2498Pro) c.5003T>C (p.Leu1668Pro) | dbSNP |
10 | g.71807687T>G | CA377131627 | CDH23 | c.8480T>G (p.Leu2827Arg) c.2413T>G (n.2413T>G) c.2077T>G (n.2077T>G) c.8495T>G (p.Leu2832Arg) c.1760T>G (p.Leu587Arg) n.2016T>G c.8675T>G (p.Leu2892Arg) c.8609T>G (p.Leu2870Arg) c.8672T>G (p.Leu2891Arg) c.8669T>G (p.Leu2890Arg) c.8615T>G (p.Leu2872Arg) c.8585T>G (p.Leu2862Arg) c.8540T>G (p.Leu2847Arg) c.8135T>G (p.Leu2712Arg) c.7493T>G (p.Leu2498Arg) c.5003T>G (p.Leu1668Arg) | |
10 | g.71807688C>A | CA470282560 | CDH23 | c.8481C>A (p.Leu2827=) c.2414C>A (n.2414C>A) c.2078C>A (n.2078C>A) c.8496C>A (p.Leu2832=) c.1761C>A (p.Leu587=) n.2017C>A c.8676C>A (p.Leu2892=) c.8610C>A (p.Leu2870=) c.8673C>A (p.Leu2891=) c.8670C>A (p.Leu2890=) c.8616C>A (p.Leu2872=) c.8586C>A (p.Leu2862=) c.8541C>A (p.Leu2847=) c.8136C>A (p.Leu2712=) c.7494C>A (p.Leu2498=) c.5004C>A (p.Leu1668=) | |
10 | g.71807688C>G | CA470282561 | CDH23 | c.8481C>G (p.Leu2827=) c.2414C>G (n.2414C>G) c.2078C>G (n.2078C>G) c.8496C>G (p.Leu2832=) c.1761C>G (p.Leu587=) n.2017C>G c.8676C>G (p.Leu2892=) c.8610C>G (p.Leu2870=) c.8673C>G (p.Leu2891=) c.8670C>G (p.Leu2890=) c.8616C>G (p.Leu2872=) c.8586C>G (p.Leu2862=) c.8541C>G (p.Leu2847=) c.8136C>G (p.Leu2712=) c.7494C>G (p.Leu2498=) c.5004C>G (p.Leu1668=) | |
10 | g.71807688C>T | CA470282562 | CDH23 | c.8481C>T (p.Leu2827=) c.2414C>T (n.2414C>T) c.2078C>T (n.2078C>T) c.8496C>T (p.Leu2832=) c.1761C>T (p.Leu587=) n.2017C>T c.8676C>T (p.Leu2892=) c.8610C>T (p.Leu2870=) c.8673C>T (p.Leu2891=) c.8670C>T (p.Leu2890=) c.8616C>T (p.Leu2872=) c.8586C>T (p.Leu2862=) c.8541C>T (p.Leu2847=) c.8136C>T (p.Leu2712=) c.7494C>T (p.Leu2498=) c.5004C>T (p.Leu1668=) | dbSNP gnomAD v4 |
10 | g.71807689A>C | CA377131628 | CDH23 | c.8482A>C (p.Thr2828Pro) c.2415A>C (n.2415A>C) c.2079A>C (n.2079A>C) c.8497A>C (p.Thr2833Pro) c.1762A>C (p.Thr588Pro) n.2018A>C c.8677A>C (p.Thr2893Pro) c.8611A>C (p.Thr2871Pro) c.8674A>C (p.Thr2892Pro) c.8671A>C (p.Thr2891Pro) c.8617A>C (p.Thr2873Pro) c.8587A>C (p.Thr2863Pro) c.8542A>C (p.Thr2848Pro) c.8137A>C (p.Thr2713Pro) c.7495A>C (p.Thr2499Pro) c.5005A>C (p.Thr1669Pro) | |
10 | g.71807689A>G | CA377131629 | CDH23 | c.8482A>G (p.Thr2828Ala) c.2415A>G (n.2415A>G) c.2079A>G (n.2079A>G) c.8497A>G (p.Thr2833Ala) c.1762A>G (p.Thr588Ala) n.2018A>G c.8677A>G (p.Thr2893Ala) c.8611A>G (p.Thr2871Ala) c.8674A>G (p.Thr2892Ala) c.8671A>G (p.Thr2891Ala) c.8617A>G (p.Thr2873Ala) c.8587A>G (p.Thr2863Ala) c.8542A>G (p.Thr2848Ala) c.8137A>G (p.Thr2713Ala) c.7495A>G (p.Thr2499Ala) c.5005A>G (p.Thr1669Ala) | |
10 | g.71807689A>T | CA377131630 | CDH23 | c.8482A>T (p.Thr2828Ser) c.2415A>T (n.2415A>T) c.2079A>T (n.2079A>T) c.8497A>T (p.Thr2833Ser) c.1762A>T (p.Thr588Ser) n.2018A>T c.8677A>T (p.Thr2893Ser) c.8611A>T (p.Thr2871Ser) c.8674A>T (p.Thr2892Ser) c.8671A>T (p.Thr2891Ser) c.8617A>T (p.Thr2873Ser) c.8587A>T (p.Thr2863Ser) c.8542A>T (p.Thr2848Ser) c.8137A>T (p.Thr2713Ser) c.7495A>T (p.Thr2499Ser) c.5005A>T (p.Thr1669Ser) | |
10 | g.71807690C>A | CA377131633 | CDH23 | c.8483C>A (p.Thr2828Lys) c.2416C>A (n.2416C>A) c.2080C>A (n.2080C>A) c.8498C>A (p.Thr2833Lys) c.1763C>A (p.Thr588Lys) n.2019C>A c.8678C>A (p.Thr2893Lys) c.8612C>A (p.Thr2871Lys) c.8675C>A (p.Thr2892Lys) c.8672C>A (p.Thr2891Lys) c.8618C>A (p.Thr2873Lys) c.8588C>A (p.Thr2863Lys) c.8543C>A (p.Thr2848Lys) c.8138C>A (p.Thr2713Lys) c.7496C>A (p.Thr2499Lys) c.5006C>A (p.Thr1669Lys) | |
10 | g.71807690C>G | CA377131632 | CDH23 | c.8483C>G (p.Thr2828Arg) c.2416C>G (n.2416C>G) c.2080C>G (n.2080C>G) c.8498C>G (p.Thr2833Arg) c.1763C>G (p.Thr588Arg) n.2019C>G c.8678C>G (p.Thr2893Arg) c.8612C>G (p.Thr2871Arg) c.8675C>G (p.Thr2892Arg) c.8672C>G (p.Thr2891Arg) c.8618C>G (p.Thr2873Arg) c.8588C>G (p.Thr2863Arg) c.8543C>G (p.Thr2848Arg) c.8138C>G (p.Thr2713Arg) c.7496C>G (p.Thr2499Arg) c.5006C>G (p.Thr1669Arg) | |
10 | g.71807690C>T | CA377131631 | CDH23 | c.8483C>T (p.Thr2828Ile) c.2416C>T (n.2416C>T) c.2080C>T (n.2080C>T) c.8498C>T (p.Thr2833Ile) c.1763C>T (p.Thr588Ile) n.2019C>T c.8678C>T (p.Thr2893Ile) c.8612C>T (p.Thr2871Ile) c.8675C>T (p.Thr2892Ile) c.8672C>T (p.Thr2891Ile) c.8618C>T (p.Thr2873Ile) c.8588C>T (p.Thr2863Ile) c.8543C>T (p.Thr2848Ile) c.8138C>T (p.Thr2713Ile) c.7496C>T (p.Thr2499Ile) c.5006C>T (p.Thr1669Ile) | COSMIC |
10 | g.71807691A>C | CA470282566 | CDH23 | c.8484A>C (p.Thr2828=) c.2417A>C (n.2417A>C) c.2081A>C (n.2081A>C) c.8499A>C (p.Thr2833=) c.1764A>C (p.Thr588=) n.2020A>C c.8679A>C (p.Thr2893=) c.8613A>C (p.Thr2871=) c.8676A>C (p.Thr2892=) c.8673A>C (p.Thr2891=) c.8619A>C (p.Thr2873=) c.8589A>C (p.Thr2863=) c.8544A>C (p.Thr2848=) c.8139A>C (p.Thr2713=) c.7497A>C (p.Thr2499=) c.5007A>C (p.Thr1669=) | |
10 | g.71807691A>G | CA470282567 | CDH23 | c.8484A>G (p.Thr2828=) c.2417A>G (n.2417A>G) c.2081A>G (n.2081A>G) c.8499A>G (p.Thr2833=) c.1764A>G (p.Thr588=) n.2020A>G c.8679A>G (p.Thr2893=) c.8613A>G (p.Thr2871=) c.8676A>G (p.Thr2892=) c.8673A>G (p.Thr2891=) c.8619A>G (p.Thr2873=) c.8589A>G (p.Thr2863=) c.8544A>G (p.Thr2848=) c.8139A>G (p.Thr2713=) c.7497A>G (p.Thr2499=) c.5007A>G (p.Thr1669=) | dbSNP |
10 | g.71807691A>T | CA470282568 | CDH23 | c.8484A>T (p.Thr2828=) c.2417A>T (n.2417A>T) c.2081A>T (n.2081A>T) c.8499A>T (p.Thr2833=) c.1764A>T (p.Thr588=) n.2020A>T c.8679A>T (p.Thr2893=) c.8613A>T (p.Thr2871=) c.8676A>T (p.Thr2892=) c.8673A>T (p.Thr2891=) c.8619A>T (p.Thr2873=) c.8589A>T (p.Thr2863=) c.8544A>T (p.Thr2848=) c.8139A>T (p.Thr2713=) c.7497A>T (p.Thr2499=) c.5007A>T (p.Thr1669=) | |
10 | g.71807692C>A | CA377131634 | CDH23 | c.8485C>A (p.Leu2829Met) c.2418C>A (n.2418C>A) c.2082C>A (n.2082C>A) c.8500C>A (p.Leu2834Met) c.1765C>A (p.Leu589Met) n.2021C>A c.8680C>A (p.Leu2894Met) c.8614C>A (p.Leu2872Met) c.8677C>A (p.Leu2893Met) c.8674C>A (p.Leu2892Met) c.8620C>A (p.Leu2874Met) c.8590C>A (p.Leu2864Met) c.8545C>A (p.Leu2849Met) c.8140C>A (p.Leu2714Met) c.7498C>A (p.Leu2500Met) c.5008C>A (p.Leu1670Met) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71807692C= | CA1918886656 | CDH23 | c.8485C= (p.Leu2829=) c.2418C= (n.2418C=) c.2082C= (n.2082C=) c.8500C= (p.Leu2834=) c.1765C= (p.Leu589=) n.2021C= c.8680C= (p.Leu2894=) c.8614C= (p.Leu2872=) c.8677C= (p.Leu2893=) c.8674C= (p.Leu2892=) c.8620C= (p.Leu2874=) c.8590C= (p.Leu2864=) c.8545C= (p.Leu2849=) c.8140C= (p.Leu2714=) c.7498C= (p.Leu2500=) c.5008C= (p.Leu1670=) | |
10 | g.71807692C>G | CA377131635 | CDH23 | c.8485C>G (p.Leu2829Val) c.2418C>G (n.2418C>G) c.2082C>G (n.2082C>G) c.8500C>G (p.Leu2834Val) c.1765C>G (p.Leu589Val) n.2021C>G c.8680C>G (p.Leu2894Val) c.8614C>G (p.Leu2872Val) c.8677C>G (p.Leu2893Val) c.8674C>G (p.Leu2892Val) c.8620C>G (p.Leu2874Val) c.8590C>G (p.Leu2864Val) c.8545C>G (p.Leu2849Val) c.8140C>G (p.Leu2714Val) c.7498C>G (p.Leu2500Val) c.5008C>G (p.Leu1670Val) | dbSNP COSMIC |
10 | g.71807692C>T | CA470282569 | CDH23 | c.8485C>T (p.Leu2829=) c.2418C>T (n.2418C>T) c.2082C>T (n.2082C>T) c.8500C>T (p.Leu2834=) c.1765C>T (p.Leu589=) n.2021C>T c.8680C>T (p.Leu2894=) c.8614C>T (p.Leu2872=) c.8677C>T (p.Leu2893=) c.8674C>T (p.Leu2892=) c.8620C>T (p.Leu2874=) c.8590C>T (p.Leu2864=) c.8545C>T (p.Leu2849=) c.8140C>T (p.Leu2714=) c.7498C>T (p.Leu2500=) c.5008C>T (p.Leu1670=) | ClinVar dbSNP gnomAD v4 COSMIC |
10 | g.71807693T>A | CA377131636 | CDH23 | c.8486T>A (p.Leu2829Gln) c.2419T>A (n.2419T>A) c.2083T>A (n.2083T>A) c.8501T>A (p.Leu2834Gln) c.1766T>A (p.Leu589Gln) n.2022T>A c.8681T>A (p.Leu2894Gln) c.8615T>A (p.Leu2872Gln) c.8678T>A (p.Leu2893Gln) c.8675T>A (p.Leu2892Gln) c.8621T>A (p.Leu2874Gln) c.8591T>A (p.Leu2864Gln) c.8546T>A (p.Leu2849Gln) c.8141T>A (p.Leu2714Gln) c.7499T>A (p.Leu2500Gln) c.5009T>A (p.Leu1670Gln) | |
10 | g.71807693T>C | CA377131638 | CDH23 | c.8486T>C (p.Leu2829Pro) c.2419T>C (n.2419T>C) c.2083T>C (n.2083T>C) c.8501T>C (p.Leu2834Pro) c.1766T>C (p.Leu589Pro) n.2022T>C c.8681T>C (p.Leu2894Pro) c.8615T>C (p.Leu2872Pro) c.8678T>C (p.Leu2893Pro) c.8675T>C (p.Leu2892Pro) c.8621T>C (p.Leu2874Pro) c.8591T>C (p.Leu2864Pro) c.8546T>C (p.Leu2849Pro) c.8141T>C (p.Leu2714Pro) c.7499T>C (p.Leu2500Pro) c.5009T>C (p.Leu1670Pro) | |
10 | g.71807693T>G | CA377131637 | CDH23 | c.8486T>G (p.Leu2829Arg) c.2419T>G (n.2419T>G) c.2083T>G (n.2083T>G) c.8501T>G (p.Leu2834Arg) c.1766T>G (p.Leu589Arg) n.2022T>G c.8681T>G (p.Leu2894Arg) c.8615T>G (p.Leu2872Arg) c.8678T>G (p.Leu2893Arg) c.8675T>G (p.Leu2892Arg) c.8621T>G (p.Leu2874Arg) c.8591T>G (p.Leu2864Arg) c.8546T>G (p.Leu2849Arg) c.8141T>G (p.Leu2714Arg) c.7499T>G (p.Leu2500Arg) c.5009T>G (p.Leu1670Arg) | |
10 | g.71807694G>A | CA470282573 | CDH23 | c.8487G>A (p.Leu2829=) c.2420G>A (n.2420G>A) c.2084G>A (n.2084G>A) c.8502G>A (p.Leu2834=) c.1767G>A (p.Leu589=) n.2023G>A c.8682G>A (p.Leu2894=) c.8616G>A (p.Leu2872=) c.8679G>A (p.Leu2893=) c.8676G>A (p.Leu2892=) c.8622G>A (p.Leu2874=) c.8592G>A (p.Leu2864=) c.8547G>A (p.Leu2849=) c.8142G>A (p.Leu2714=) c.7500G>A (p.Leu2500=) c.5010G>A (p.Leu1670=) | dbSNP |
10 | g.71807694G>C | CA470282574 | CDH23 | c.8487G>C (p.Leu2829=) c.2420G>C (n.2420G>C) c.2084G>C (n.2084G>C) c.8502G>C (p.Leu2834=) c.1767G>C (p.Leu589=) n.2023G>C c.8682G>C (p.Leu2894=) c.8616G>C (p.Leu2872=) c.8679G>C (p.Leu2893=) c.8676G>C (p.Leu2892=) c.8622G>C (p.Leu2874=) c.8592G>C (p.Leu2864=) c.8547G>C (p.Leu2849=) c.8142G>C (p.Leu2714=) c.7500G>C (p.Leu2500=) c.5010G>C (p.Leu1670=) | |
10 | g.71807694G>T | CA470282575 | CDH23 | c.8487G>T (p.Leu2829=) c.2420G>T (n.2420G>T) c.2084G>T (n.2084G>T) c.8502G>T (p.Leu2834=) c.1767G>T (p.Leu589=) n.2023G>T c.8682G>T (p.Leu2894=) c.8616G>T (p.Leu2872=) c.8679G>T (p.Leu2893=) c.8676G>T (p.Leu2892=) c.8622G>T (p.Leu2874=) c.8592G>T (p.Leu2864=) c.8547G>T (p.Leu2849=) c.8142G>T (p.Leu2714=) c.7500G>T (p.Leu2500=) c.5010G>T (p.Leu1670=) | |
10 | g.71807695C>A | CA377131639 | CDH23 | c.8488C>A (p.Gln2830Lys) c.2421C>A (n.2421C>A) c.2085C>A (n.2085C>A) c.8503C>A (p.Gln2835Lys) c.1768C>A (p.Gln590Lys) n.2024C>A c.8683C>A (p.Gln2895Lys) c.8617C>A (p.Gln2873Lys) c.8680C>A (p.Gln2894Lys) c.8677C>A (p.Gln2893Lys) c.8623C>A (p.Gln2875Lys) c.8593C>A (p.Gln2865Lys) c.8548C>A (p.Gln2850Lys) c.8143C>A (p.Gln2715Lys) c.7501C>A (p.Gln2501Lys) c.5011C>A (p.Gln1671Lys) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71807695C= | CA1918886660 | CDH23 | c.8488C= (p.Gln2830=) c.2421C= (n.2421C=) c.2085C= (n.2085C=) c.8503C= (p.Gln2835=) c.1768C= (p.Gln590=) n.2024C= c.8683C= (p.Gln2895=) c.8617C= (p.Gln2873=) c.8680C= (p.Gln2894=) c.8677C= (p.Gln2893=) c.8623C= (p.Gln2875=) c.8593C= (p.Gln2865=) c.8548C= (p.Gln2850=) c.8143C= (p.Gln2715=) c.7501C= (p.Gln2501=) c.5011C= (p.Gln1671=) | |
10 | g.71807695C>G | CA377131640 | CDH23 | c.8488C>G (p.Gln2830Glu) c.2421C>G (n.2421C>G) c.2085C>G (n.2085C>G) c.8503C>G (p.Gln2835Glu) c.1768C>G (p.Gln590Glu) n.2024C>G c.8683C>G (p.Gln2895Glu) c.8617C>G (p.Gln2873Glu) c.8680C>G (p.Gln2894Glu) c.8677C>G (p.Gln2893Glu) c.8623C>G (p.Gln2875Glu) c.8593C>G (p.Gln2865Glu) c.8548C>G (p.Gln2850Glu) c.8143C>G (p.Gln2715Glu) c.7501C>G (p.Gln2501Glu) c.5011C>G (p.Gln1671Glu) | |
10 | g.71807695C>T | CA377131641 | CDH23 | c.8488C>T (p.Gln2830Ter) c.2421C>T (n.2421C>T) c.2085C>T (n.2085C>T) c.8503C>T (p.Gln2835Ter) c.1768C>T (p.Gln590Ter) n.2024C>T c.8683C>T (p.Gln2895Ter) c.8617C>T (p.Gln2873Ter) c.8680C>T (p.Gln2894Ter) c.8677C>T (p.Gln2893Ter) c.8623C>T (p.Gln2875Ter) c.8593C>T (p.Gln2865Ter) c.8548C>T (p.Gln2850Ter) c.8143C>T (p.Gln2715Ter) c.7501C>T (p.Gln2501Ter) c.5011C>T (p.Gln1671Ter) | |
10 | g.71807696A= | CA1918886664 | CDH23 | c.8489A= (p.Gln2830=) c.2422A= (n.2422A=) c.2086A= (n.2086A=) c.8504A= (p.Gln2835=) c.1769A= (p.Gln590=) n.2025A= c.8684A= (p.Gln2895=) c.8618A= (p.Gln2873=) c.8681A= (p.Gln2894=) c.8678A= (p.Gln2893=) c.8624A= (p.Gln2875=) c.8594A= (p.Gln2865=) c.8549A= (p.Gln2850=) c.8144A= (p.Gln2715=) c.7502A= (p.Gln2501=) c.5012A= (p.Gln1671=) | |
10 | g.71807696A>C | CA377131642 | CDH23 | c.8489A>C (p.Gln2830Pro) c.2422A>C (n.2422A>C) c.2086A>C (n.2086A>C) c.8504A>C (p.Gln2835Pro) c.1769A>C (p.Gln590Pro) n.2025A>C c.8684A>C (p.Gln2895Pro) c.8618A>C (p.Gln2873Pro) c.8681A>C (p.Gln2894Pro) c.8678A>C (p.Gln2893Pro) c.8624A>C (p.Gln2875Pro) c.8594A>C (p.Gln2865Pro) c.8549A>C (p.Gln2850Pro) c.8144A>C (p.Gln2715Pro) c.7502A>C (p.Gln2501Pro) c.5012A>C (p.Gln1671Pro) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71807696A>G | CA377131643 | CDH23 | c.8489A>G (p.Gln2830Arg) c.2422A>G (n.2422A>G) c.2086A>G (n.2086A>G) c.8504A>G (p.Gln2835Arg) c.1769A>G (p.Gln590Arg) n.2025A>G c.8684A>G (p.Gln2895Arg) c.8618A>G (p.Gln2873Arg) c.8681A>G (p.Gln2894Arg) c.8678A>G (p.Gln2893Arg) c.8624A>G (p.Gln2875Arg) c.8594A>G (p.Gln2865Arg) c.8549A>G (p.Gln2850Arg) c.8144A>G (p.Gln2715Arg) c.7502A>G (p.Gln2501Arg) c.5012A>G (p.Gln1671Arg) | gnomAD v4 |
10 | g.71807696A>T | CA377131644 | CDH23 | c.8489A>T (p.Gln2830Leu) c.2422A>T (n.2422A>T) c.2086A>T (n.2086A>T) c.8504A>T (p.Gln2835Leu) c.1769A>T (p.Gln590Leu) n.2025A>T c.8684A>T (p.Gln2895Leu) c.8618A>T (p.Gln2873Leu) c.8681A>T (p.Gln2894Leu) c.8678A>T (p.Gln2893Leu) c.8624A>T (p.Gln2875Leu) c.8594A>T (p.Gln2865Leu) c.8549A>T (p.Gln2850Leu) c.8144A>T (p.Gln2715Leu) c.7502A>T (p.Gln2501Leu) c.5012A>T (p.Gln1671Leu) | |
10 | g.71807696_71807697delinsCC | CA2580081856 | CDH23 | c.8489_8490delinsCC (p.Gln2830Pro) c.2422_2423delinsCC (n.2422_2423delinsCC) c.2086_2087delinsCC (n.2086_2087delinsCC) c.8504_8505delinsCC (p.Gln2835Pro) c.1769_1770delinsCC (p.Gln590Pro) n.2025_2026delinsCC c.8684_8685delinsCC (p.Gln2895Pro) c.8618_8619delinsCC (p.Gln2873Pro) c.8681_8682delinsCC (p.Gln2894Pro) c.8678_8679delinsCC (p.Gln2893Pro) c.8624_8625delinsCC (p.Gln2875Pro) c.8594_8595delinsCC (p.Gln2865Pro) c.8549_8550delinsCC (p.Gln2850Pro) c.8144_8145delinsCC (p.Gln2715Pro) c.7502_7503delinsCC (p.Gln2501Pro) c.5012_5013delinsCC (p.Gln1671Pro) | ClinVar |
10 | g.71807697G>A | CA470282577 | CDH23 | c.8490G>A (p.Gln2830=) c.2423G>A (n.2423G>A) c.2087G>A (n.2087G>A) c.8505G>A (p.Gln2835=) c.1770G>A (p.Gln590=) n.2026G>A c.8685G>A (p.Gln2895=) c.8619G>A (p.Gln2873=) c.8682G>A (p.Gln2894=) c.8679G>A (p.Gln2893=) c.8625G>A (p.Gln2875=) c.8595G>A (p.Gln2865=) c.8550G>A (p.Gln2850=) c.8145G>A (p.Gln2715=) c.7503G>A (p.Gln2501=) c.5013G>A (p.Gln1671=) | COSMIC |
10 | g.71807697G>C | CA377131645 | CDH23 | c.8490G>C (p.Gln2830His) c.2423G>C (n.2423G>C) c.2087G>C (n.2087G>C) c.8505G>C (p.Gln2835His) c.1770G>C (p.Gln590His) n.2026G>C c.8685G>C (p.Gln2895His) c.8619G>C (p.Gln2873His) c.8682G>C (p.Gln2894His) c.8679G>C (p.Gln2893His) c.8625G>C (p.Gln2875His) c.8595G>C (p.Gln2865His) c.8550G>C (p.Gln2850His) c.8145G>C (p.Gln2715His) c.7503G>C (p.Gln2501His) c.5013G>C (p.Gln1671His) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71807697G= | CA1918886668 | CDH23 | c.8490G= (p.Gln2830=) c.2423G= (n.2423G=) c.2087G= (n.2087G=) c.8505G= (p.Gln2835=) c.1770G= (p.Gln590=) n.2026G= c.8685G= (p.Gln2895=) c.8619G= (p.Gln2873=) c.8682G= (p.Gln2894=) c.8679G= (p.Gln2893=) c.8625G= (p.Gln2875=) c.8595G= (p.Gln2865=) c.8550G= (p.Gln2850=) c.8145G= (p.Gln2715=) c.7503G= (p.Gln2501=) c.5013G= (p.Gln1671=) | |
10 | g.71807697G>T | CA377131646 | CDH23 | c.8490G>T (p.Gln2830His) c.2423G>T (n.2423G>T) c.2087G>T (n.2087G>T) c.8505G>T (p.Gln2835His) c.1770G>T (p.Gln590His) n.2026G>T c.8685G>T (p.Gln2895His) c.8619G>T (p.Gln2873His) c.8682G>T (p.Gln2894His) c.8679G>T (p.Gln2893His) c.8625G>T (p.Gln2875His) c.8595G>T (p.Gln2865His) c.8550G>T (p.Gln2850His) c.8145G>T (p.Gln2715His) c.7503G>T (p.Gln2501His) c.5013G>T (p.Gln1671His) | |
10 | g.71807698G>A | CA377131647 | CDH23 | c.8491G>A (p.Glu2831Lys) c.2424G>A (n.2424G>A) c.2088G>A (n.2088G>A) c.8506G>A (p.Glu2836Lys) c.1771G>A (p.Glu591Lys) n.2027G>A c.8686G>A (p.Glu2896Lys) c.8620G>A (p.Glu2874Lys) c.8683G>A (p.Glu2895Lys) c.8680G>A (p.Glu2894Lys) c.8626G>A (p.Glu2876Lys) c.8596G>A (p.Glu2866Lys) c.8551G>A (p.Glu2851Lys) c.8146G>A (p.Glu2716Lys) c.7504G>A (p.Glu2502Lys) c.5014G>A (p.Glu1672Lys) | COSMIC |
10 | g.71807698G>C | CA377131648 | CDH23 | c.8491G>C (p.Glu2831Gln) c.2424G>C (n.2424G>C) c.2088G>C (n.2088G>C) c.8506G>C (p.Glu2836Gln) c.1771G>C (p.Glu591Gln) n.2027G>C c.8686G>C (p.Glu2896Gln) c.8620G>C (p.Glu2874Gln) c.8683G>C (p.Glu2895Gln) c.8680G>C (p.Glu2894Gln) c.8626G>C (p.Glu2876Gln) c.8596G>C (p.Glu2866Gln) c.8551G>C (p.Glu2851Gln) c.8146G>C (p.Glu2716Gln) c.7504G>C (p.Glu2502Gln) c.5014G>C (p.Glu1672Gln) | |
10 | g.71807698G>T | CA377131649 | CDH23 | c.8491G>T (p.Glu2831Ter) c.2424G>T (n.2424G>T) c.2088G>T (n.2088G>T) c.8506G>T (p.Glu2836Ter) c.1771G>T (p.Glu591Ter) n.2027G>T c.8686G>T (p.Glu2896Ter) c.8620G>T (p.Glu2874Ter) c.8683G>T (p.Glu2895Ter) c.8680G>T (p.Glu2894Ter) c.8626G>T (p.Glu2876Ter) c.8596G>T (p.Glu2866Ter) c.8551G>T (p.Glu2851Ter) c.8146G>T (p.Glu2716Ter) c.7504G>T (p.Glu2502Ter) c.5014G>T (p.Glu1672Ter) | |
10 | g.71807699A>C | CA377131652 | CDH23 | c.8492A>C (p.Glu2831Ala) c.2425A>C (n.2425A>C) c.2089A>C (n.2089A>C) c.8507A>C (p.Glu2836Ala) c.1772A>C (p.Glu591Ala) n.2028A>C c.8687A>C (p.Glu2896Ala) c.8621A>C (p.Glu2874Ala) c.8684A>C (p.Glu2895Ala) c.8681A>C (p.Glu2894Ala) c.8627A>C (p.Glu2876Ala) c.8597A>C (p.Glu2866Ala) c.8552A>C (p.Glu2851Ala) c.8147A>C (p.Glu2716Ala) c.7505A>C (p.Glu2502Ala) c.5015A>C (p.Glu1672Ala) | |
10 | g.71807699A>G | CA377131651 | CDH23 | c.8492A>G (p.Glu2831Gly) c.2425A>G (n.2425A>G) c.2089A>G (n.2089A>G) c.8507A>G (p.Glu2836Gly) c.1772A>G (p.Glu591Gly) n.2028A>G c.8687A>G (p.Glu2896Gly) c.8621A>G (p.Glu2874Gly) c.8684A>G (p.Glu2895Gly) c.8681A>G (p.Glu2894Gly) c.8627A>G (p.Glu2876Gly) c.8597A>G (p.Glu2866Gly) c.8552A>G (p.Glu2851Gly) c.8147A>G (p.Glu2716Gly) c.7505A>G (p.Glu2502Gly) c.5015A>G (p.Glu1672Gly) | gnomAD v4 |
10 | g.71807699A>T | CA377131650 | CDH23 | c.8492A>T (p.Glu2831Val) c.2425A>T (n.2425A>T) c.2089A>T (n.2089A>T) c.8507A>T (p.Glu2836Val) c.1772A>T (p.Glu591Val) n.2028A>T c.8687A>T (p.Glu2896Val) c.8621A>T (p.Glu2874Val) c.8684A>T (p.Glu2895Val) c.8681A>T (p.Glu2894Val) c.8627A>T (p.Glu2876Val) c.8597A>T (p.Glu2866Val) c.8552A>T (p.Glu2851Val) c.8147A>T (p.Glu2716Val) c.7505A>T (p.Glu2502Val) c.5015A>T (p.Glu1672Val) | |
10 | g.71807700G>A | CA470282578 | CDH23 | c.8493G>A (p.Glu2831=) c.2426G>A (n.2426G>A) c.2090G>A (n.2090G>A) c.8508G>A (p.Glu2836=) c.1773G>A (p.Glu591=) n.2029G>A c.8688G>A (p.Glu2896=) c.8622G>A (p.Glu2874=) c.8685G>A (p.Glu2895=) c.8682G>A (p.Glu2894=) c.8628G>A (p.Glu2876=) c.8598G>A (p.Glu2866=) c.8553G>A (p.Glu2851=) c.8148G>A (p.Glu2716=) c.7506G>A (p.Glu2502=) c.5016G>A (p.Glu1672=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71807700G>C | CA377131653 | CDH23 | c.8493G>C (p.Glu2831Asp) c.2426G>C (n.2426G>C) c.2090G>C (n.2090G>C) c.8508G>C (p.Glu2836Asp) c.1773G>C (p.Glu591Asp) n.2029G>C c.8688G>C (p.Glu2896Asp) c.8622G>C (p.Glu2874Asp) c.8685G>C (p.Glu2895Asp) c.8682G>C (p.Glu2894Asp) c.8628G>C (p.Glu2876Asp) c.8598G>C (p.Glu2866Asp) c.8553G>C (p.Glu2851Asp) c.8148G>C (p.Glu2716Asp) c.7506G>C (p.Glu2502Asp) c.5016G>C (p.Glu1672Asp) | |
10 | g.71807700G= | CA1918886671 | CDH23 | c.8493G= (p.Glu2831=) c.2426G= (n.2426G=) c.2090G= (n.2090G=) c.8508G= (p.Glu2836=) c.1773G= (p.Glu591=) n.2029G= c.8688G= (p.Glu2896=) c.8622G= (p.Glu2874=) c.8685G= (p.Glu2895=) c.8682G= (p.Glu2894=) c.8628G= (p.Glu2876=) c.8598G= (p.Glu2866=) c.8553G= (p.Glu2851=) c.8148G= (p.Glu2716=) c.7506G= (p.Glu2502=) c.5016G= (p.Glu1672=) | |
10 | g.71807700G>T | CA377131654 | CDH23 | c.8493G>T (p.Glu2831Asp) c.2426G>T (n.2426G>T) c.2090G>T (n.2090G>T) c.8508G>T (p.Glu2836Asp) c.1773G>T (p.Glu591Asp) n.2029G>T c.8688G>T (p.Glu2896Asp) c.8622G>T (p.Glu2874Asp) c.8685G>T (p.Glu2895Asp) c.8682G>T (p.Glu2894Asp) c.8628G>T (p.Glu2876Asp) c.8598G>T (p.Glu2866Asp) c.8553G>T (p.Glu2851Asp) c.8148G>T (p.Glu2716Asp) c.7506G>T (p.Glu2502Asp) c.5016G>T (p.Glu1672Asp) | |
10 | g.71807701G>A | CA377131655 | CDH23 | c.8494G>A (p.Val2832Met) c.2427G>A (n.2427G>A) c.2091G>A (n.2091G>A) c.8509G>A (p.Val2837Met) c.1774G>A (p.Val592Met) n.2030G>A c.8689G>A (p.Val2897Met) c.8623G>A (p.Val2875Met) c.8686G>A (p.Val2896Met) c.8683G>A (p.Val2895Met) c.8629G>A (p.Val2877Met) c.8599G>A (p.Val2867Met) c.8554G>A (p.Val2852Met) c.8149G>A (p.Val2717Met) c.7507G>A (p.Val2503Met) c.5017G>A (p.Val1673Met) | dbSNP gnomAD v2 |
10 | g.71807701G>C | CA377131656 | CDH23 | c.8494G>C (p.Val2832Leu) c.2427G>C (n.2427G>C) c.2091G>C (n.2091G>C) c.8509G>C (p.Val2837Leu) c.1774G>C (p.Val592Leu) n.2030G>C c.8689G>C (p.Val2897Leu) c.8623G>C (p.Val2875Leu) c.8686G>C (p.Val2896Leu) c.8683G>C (p.Val2895Leu) c.8629G>C (p.Val2877Leu) c.8599G>C (p.Val2867Leu) c.8554G>C (p.Val2852Leu) c.8149G>C (p.Val2717Leu) c.7507G>C (p.Val2503Leu) c.5017G>C (p.Val1673Leu) | |
10 | g.71807701G= | CA1918886675 | CDH23 | c.8494G= (p.Val2832=) c.2427G= (n.2427G=) c.2091G= (n.2091G=) c.8509G= (p.Val2837=) c.1774G= (p.Val592=) n.2030G= c.8689G= (p.Val2897=) c.8623G= (p.Val2875=) c.8686G= (p.Val2896=) c.8683G= (p.Val2895=) c.8629G= (p.Val2877=) c.8599G= (p.Val2867=) c.8554G= (p.Val2852=) c.8149G= (p.Val2717=) c.7507G= (p.Val2503=) c.5017G= (p.Val1673=) | |
10 | g.71807701G>T | CA377131657 | CDH23 | c.8494G>T (p.Val2832Leu) c.2427G>T (n.2427G>T) c.2091G>T (n.2091G>T) c.8509G>T (p.Val2837Leu) c.1774G>T (p.Val592Leu) n.2030G>T c.8689G>T (p.Val2897Leu) c.8623G>T (p.Val2875Leu) c.8686G>T (p.Val2896Leu) c.8683G>T (p.Val2895Leu) c.8629G>T (p.Val2877Leu) c.8599G>T (p.Val2867Leu) c.8554G>T (p.Val2852Leu) c.8149G>T (p.Val2717Leu) c.7507G>T (p.Val2503Leu) c.5017G>T (p.Val1673Leu) | |
10 | g.71807702T>A | CA377131658 | CDH23 | c.8495T>A (p.Val2832Glu) c.2428T>A (n.2428T>A) c.2092T>A (n.2092T>A) c.8510T>A (p.Val2837Glu) c.1775T>A (p.Val592Glu) n.2031T>A c.8690T>A (p.Val2897Glu) c.8624T>A (p.Val2875Glu) c.8687T>A (p.Val2896Glu) c.8684T>A (p.Val2895Glu) c.8630T>A (p.Val2877Glu) c.8600T>A (p.Val2867Glu) c.8555T>A (p.Val2852Glu) c.8150T>A (p.Val2717Glu) c.7508T>A (p.Val2503Glu) c.5018T>A (p.Val1673Glu) | |
10 | g.71807702T>C | CA377131659 | CDH23 | c.8495T>C (p.Val2832Ala) c.2428T>C (n.2428T>C) c.2092T>C (n.2092T>C) c.8510T>C (p.Val2837Ala) c.1775T>C (p.Val592Ala) n.2031T>C c.8690T>C (p.Val2897Ala) c.8624T>C (p.Val2875Ala) c.8687T>C (p.Val2896Ala) c.8684T>C (p.Val2895Ala) c.8630T>C (p.Val2877Ala) c.8600T>C (p.Val2867Ala) c.8555T>C (p.Val2852Ala) c.8150T>C (p.Val2717Ala) c.7508T>C (p.Val2503Ala) c.5018T>C (p.Val1673Ala) | |
10 | g.71807702T>G | CA377131660 | CDH23 | c.8495T>G (p.Val2832Gly) c.2428T>G (n.2428T>G) c.2092T>G (n.2092T>G) c.8510T>G (p.Val2837Gly) c.1775T>G (p.Val592Gly) n.2031T>G c.8690T>G (p.Val2897Gly) c.8624T>G (p.Val2875Gly) c.8687T>G (p.Val2896Gly) c.8684T>G (p.Val2895Gly) c.8630T>G (p.Val2877Gly) c.8600T>G (p.Val2867Gly) c.8555T>G (p.Val2852Gly) c.8150T>G (p.Val2717Gly) c.7508T>G (p.Val2503Gly) c.5018T>G (p.Val1673Gly) | dbSNP gnomAD v4 |
10 | g.71807702T= | CA1918886679 | CDH23 | c.8495T= (p.Val2832=) c.2428T= (n.2428T=) c.2092T= (n.2092T=) c.8510T= (p.Val2837=) c.1775T= (p.Val592=) n.2031T= c.8690T= (p.Val2897=) c.8624T= (p.Val2875=) c.8687T= (p.Val2896=) c.8684T= (p.Val2895=) c.8630T= (p.Val2877=) c.8600T= (p.Val2867=) c.8555T= (p.Val2852=) c.8150T= (p.Val2717=) c.7508T= (p.Val2503=) c.5018T= (p.Val1673=) | |
10 | g.71807703G>A | CA5546663 | CDH23 | c.8496G>A (p.Val2832=) c.2429G>A (n.2429G>A) c.2093G>A (n.2093G>A) c.8511G>A (p.Val2837=) c.1776G>A (p.Val592=) n.2032G>A c.8691G>A (p.Val2897=) c.8625G>A (p.Val2875=) c.8688G>A (p.Val2896=) c.8685G>A (p.Val2895=) c.8631G>A (p.Val2877=) c.8601G>A (p.Val2867=) c.8556G>A (p.Val2852=) c.8151G>A (p.Val2717=) c.7509G>A (p.Val2503=) c.5019G>A (p.Val1673=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71807703G>C | CA470282585 | CDH23 | c.8496G>C (p.Val2832=) c.2429G>C (n.2429G>C) c.2093G>C (n.2093G>C) c.8511G>C (p.Val2837=) c.1776G>C (p.Val592=) n.2032G>C c.8691G>C (p.Val2897=) c.8625G>C (p.Val2875=) c.8688G>C (p.Val2896=) c.8685G>C (p.Val2895=) c.8631G>C (p.Val2877=) c.8601G>C (p.Val2867=) c.8556G>C (p.Val2852=) c.8151G>C (p.Val2717=) c.7509G>C (p.Val2503=) c.5019G>C (p.Val1673=) | |
10 | g.71807703G= | CA1918886683 | CDH23 | c.8496G= (p.Val2832=) c.2429G= (n.2429G=) c.2093G= (n.2093G=) c.8511G= (p.Val2837=) c.1776G= (p.Val592=) n.2032G= c.8691G= (p.Val2897=) c.8625G= (p.Val2875=) c.8688G= (p.Val2896=) c.8685G= (p.Val2895=) c.8631G= (p.Val2877=) c.8601G= (p.Val2867=) c.8556G= (p.Val2852=) c.8151G= (p.Val2717=) c.7509G= (p.Val2503=) c.5019G= (p.Val1673=) | |
10 | g.71807703G>T | CA470282583 | CDH23 | c.8496G>T (p.Val2832=) c.2429G>T (n.2429G>T) c.2093G>T (n.2093G>T) c.8511G>T (p.Val2837=) c.1776G>T (p.Val592=) n.2032G>T c.8691G>T (p.Val2897=) c.8625G>T (p.Val2875=) c.8688G>T (p.Val2896=) c.8685G>T (p.Val2895=) c.8631G>T (p.Val2877=) c.8601G>T (p.Val2867=) c.8556G>T (p.Val2852=) c.8151G>T (p.Val2717=) c.7509G>T (p.Val2503=) c.5019G>T (p.Val1673=) | |
10 | g.71807704C>A | CA377131661 | CDH23 | c.8497C>A (p.Arg2833Ser) c.2430C>A (n.2430C>A) c.2094C>A (n.2094C>A) c.8512C>A (p.Arg2838Ser) c.1777C>A (p.Arg593Ser) n.2033C>A c.8692C>A (p.Arg2898Ser) c.8626C>A (p.Arg2876Ser) c.8689C>A (p.Arg2897Ser) c.8686C>A (p.Arg2896Ser) c.8632C>A (p.Arg2878Ser) c.8602C>A (p.Arg2868Ser) c.8557C>A (p.Arg2853Ser) c.8152C>A (p.Arg2718Ser) c.7510C>A (p.Arg2504Ser) c.5020C>A (p.Arg1674Ser) | |
10 | g.71807704C= | CA1918886694 | CDH23 | c.8497C= (p.Arg2833=) c.2430C= (n.2430C=) c.2094C= (n.2094C=) c.8512C= (p.Arg2838=) c.1777C= (p.Arg593=) n.2033C= c.8692C= (p.Arg2898=) c.8626C= (p.Arg2876=) c.8689C= (p.Arg2897=) c.8686C= (p.Arg2896=) c.8632C= (p.Arg2878=) c.8602C= (p.Arg2868=) c.8557C= (p.Arg2853=) c.8152C= (p.Arg2718=) c.7510C= (p.Arg2504=) c.5020C= (p.Arg1674=) | |
10 | g.71807704C>G | CA5546665 | CDH23 | c.8497C>G (p.Arg2833Gly) c.2430C>G (n.2430C>G) c.2094C>G (n.2094C>G) c.8512C>G (p.Arg2838Gly) c.1777C>G (p.Arg593Gly) n.2033C>G c.8692C>G (p.Arg2898Gly) c.8626C>G (p.Arg2876Gly) c.8689C>G (p.Arg2897Gly) c.8686C>G (p.Arg2896Gly) c.8632C>G (p.Arg2878Gly) c.8602C>G (p.Arg2868Gly) c.8557C>G (p.Arg2853Gly) c.8152C>G (p.Arg2718Gly) c.7510C>G (p.Arg2504Gly) c.5020C>G (p.Arg1674Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71807704C>T | CA5546664 | CDH23 | c.8497C>T (p.Arg2833Cys) c.2430C>T (n.2430C>T) c.2094C>T (n.2094C>T) c.8512C>T (p.Arg2838Cys) c.1777C>T (p.Arg593Cys) n.2033C>T c.8692C>T (p.Arg2898Cys) c.8626C>T (p.Arg2876Cys) c.8689C>T (p.Arg2897Cys) c.8686C>T (p.Arg2896Cys) c.8632C>T (p.Arg2878Cys) c.8602C>T (p.Arg2868Cys) c.8557C>T (p.Arg2853Cys) c.8152C>T (p.Arg2718Cys) c.7510C>T (p.Arg2504Cys) c.5020C>T (p.Arg1674Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.71807705G>A | CA5546666 | CDH23 | c.8498G>A (p.Arg2833His) c.2431G>A (n.2431G>A) c.2095G>A (n.2095G>A) c.8513G>A (p.Arg2838His) c.1778G>A (p.Arg593His) n.2034G>A c.8693G>A (p.Arg2898His) c.8627G>A (p.Arg2876His) c.8690G>A (p.Arg2897His) c.8687G>A (p.Arg2896His) c.8633G>A (p.Arg2878His) c.8603G>A (p.Arg2868His) c.8558G>A (p.Arg2853His) c.8153G>A (p.Arg2718His) c.7511G>A (p.Arg2504His) c.5021G>A (p.Arg1674His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71807705G>C | CA377131662 | CDH23 | c.8498G>C (p.Arg2833Pro) c.2431G>C (n.2431G>C) c.2095G>C (n.2095G>C) c.8513G>C (p.Arg2838Pro) c.1778G>C (p.Arg593Pro) n.2034G>C c.8693G>C (p.Arg2898Pro) c.8627G>C (p.Arg2876Pro) c.8690G>C (p.Arg2897Pro) c.8687G>C (p.Arg2896Pro) c.8633G>C (p.Arg2878Pro) c.8603G>C (p.Arg2868Pro) c.8558G>C (p.Arg2853Pro) c.8153G>C (p.Arg2718Pro) c.7511G>C (p.Arg2504Pro) c.5021G>C (p.Arg1674Pro) | |
10 | g.71807705G= | CA1918886701 | CDH23 | c.8498G= (p.Arg2833=) c.2431G= (n.2431G=) c.2095G= (n.2095G=) c.8513G= (p.Arg2838=) c.1778G= (p.Arg593=) n.2034G= c.8693G= (p.Arg2898=) c.8627G= (p.Arg2876=) c.8690G= (p.Arg2897=) c.8687G= (p.Arg2896=) c.8633G= (p.Arg2878=) c.8603G= (p.Arg2868=) c.8558G= (p.Arg2853=) c.8153G= (p.Arg2718=) c.7511G= (p.Arg2504=) c.5021G= (p.Arg1674=) | |
10 | g.71807705G>T | CA5546667 | CDH23 | c.8498G>T (p.Arg2833Leu) c.2431G>T (n.2431G>T) c.2095G>T (n.2095G>T) c.8513G>T (p.Arg2838Leu) c.1778G>T (p.Arg593Leu) n.2034G>T c.8693G>T (p.Arg2898Leu) c.8627G>T (p.Arg2876Leu) c.8690G>T (p.Arg2897Leu) c.8687G>T (p.Arg2896Leu) c.8633G>T (p.Arg2878Leu) c.8603G>T (p.Arg2868Leu) c.8558G>T (p.Arg2853Leu) c.8153G>T (p.Arg2718Leu) c.7511G>T (p.Arg2504Leu) c.5021G>T (p.Arg1674Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71807706C>A | CA470282591 | CDH23 | c.8499C>A (p.Arg2833=) c.2432C>A (n.2432C>A) c.2096C>A (n.2096C>A) c.8514C>A (p.Arg2838=) c.1779C>A (p.Arg593=) n.2035C>A c.8694C>A (p.Arg2898=) c.8628C>A (p.Arg2876=) c.8691C>A (p.Arg2897=) c.8688C>A (p.Arg2896=) c.8634C>A (p.Arg2878=) c.8604C>A (p.Arg2868=) c.8559C>A (p.Arg2853=) c.8154C>A (p.Arg2718=) c.7512C>A (p.Arg2504=) c.5022C>A (p.Arg1674=) | dbSNP |
10 | g.71807706C= | CA1918886707 | CDH23 | c.8499C= (p.Arg2833=) c.2432C= (n.2432C=) c.2096C= (n.2096C=) c.8514C= (p.Arg2838=) c.1779C= (p.Arg593=) n.2035C= c.8694C= (p.Arg2898=) c.8628C= (p.Arg2876=) c.8691C= (p.Arg2897=) c.8688C= (p.Arg2896=) c.8634C= (p.Arg2878=) c.8604C= (p.Arg2868=) c.8559C= (p.Arg2853=) c.8154C= (p.Arg2718=) c.7512C= (p.Arg2504=) c.5022C= (p.Arg1674=) | |
10 | g.71807706C>G | CA470282590 | CDH23 | c.8499C>G (p.Arg2833=) c.2432C>G (n.2432C>G) c.2096C>G (n.2096C>G) c.8514C>G (p.Arg2838=) c.1779C>G (p.Arg593=) n.2035C>G c.8694C>G (p.Arg2898=) c.8628C>G (p.Arg2876=) c.8691C>G (p.Arg2897=) c.8688C>G (p.Arg2896=) c.8634C>G (p.Arg2878=) c.8604C>G (p.Arg2868=) c.8559C>G (p.Arg2853=) c.8154C>G (p.Arg2718=) c.7512C>G (p.Arg2504=) c.5022C>G (p.Arg1674=) | |
10 | g.71807706C>T | CA137598 | CDH23 | c.8499C>T (p.Arg2833=) c.2432C>T (n.2432C>T) c.2096C>T (n.2096C>T) c.8514C>T (p.Arg2838=) c.1779C>T (p.Arg593=) n.2035C>T c.8694C>T (p.Arg2898=) c.8628C>T (p.Arg2876=) c.8691C>T (p.Arg2897=) c.8688C>T (p.Arg2896=) c.8634C>T (p.Arg2878=) c.8604C>T (p.Arg2868=) c.8559C>T (p.Arg2853=) c.8154C>T (p.Arg2718=) c.7512C>T (p.Arg2504=) c.5022C>T (p.Arg1674=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.71807707G>A | CA5546668 | CDH23 | c.8500G>A (p.Val2834Ile) c.2433G>A (n.2433G>A) c.2097G>A (n.2097G>A) c.8515G>A (p.Val2839Ile) c.1780G>A (p.Val594Ile) n.2036G>A c.8695G>A (p.Val2899Ile) c.8629G>A (p.Val2877Ile) c.8692G>A (p.Val2898Ile) c.8689G>A (p.Val2897Ile) c.8635G>A (p.Val2879Ile) c.8605G>A (p.Val2869Ile) c.8560G>A (p.Val2854Ile) c.8155G>A (p.Val2719Ile) c.7513G>A (p.Val2505Ile) c.5023G>A (p.Val1675Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.71807707G>C | CA377131663 | CDH23 | c.8500G>C (p.Val2834Leu) c.2433G>C (n.2433G>C) c.2097G>C (n.2097G>C) c.8515G>C (p.Val2839Leu) c.1780G>C (p.Val594Leu) n.2036G>C c.8695G>C (p.Val2899Leu) c.8629G>C (p.Val2877Leu) c.8692G>C (p.Val2898Leu) c.8689G>C (p.Val2897Leu) c.8635G>C (p.Val2879Leu) c.8605G>C (p.Val2869Leu) c.8560G>C (p.Val2854Leu) c.8155G>C (p.Val2719Leu) c.7513G>C (p.Val2505Leu) c.5023G>C (p.Val1675Leu) | dbSNP |
10 | g.71807707G= | CA1918886714 | CDH23 | c.8500G= (p.Val2834=) c.2433G= (n.2433G=) c.2097G= (n.2097G=) c.8515G= (p.Val2839=) c.1780G= (p.Val594=) n.2036G= c.8695G= (p.Val2899=) c.8629G= (p.Val2877=) c.8692G= (p.Val2898=) c.8689G= (p.Val2897=) c.8635G= (p.Val2879=) c.8605G= (p.Val2869=) c.8560G= (p.Val2854=) c.8155G= (p.Val2719=) c.7513G= (p.Val2505=) c.5023G= (p.Val1675=) | |
10 | g.71807707G>T | CA377131664 | CDH23 | c.8500G>T (p.Val2834Phe) c.2433G>T (n.2433G>T) c.2097G>T (n.2097G>T) c.8515G>T (p.Val2839Phe) c.1780G>T (p.Val594Phe) n.2036G>T c.8695G>T (p.Val2899Phe) c.8629G>T (p.Val2877Phe) c.8692G>T (p.Val2898Phe) c.8689G>T (p.Val2897Phe) c.8635G>T (p.Val2879Phe) c.8605G>T (p.Val2869Phe) c.8560G>T (p.Val2854Phe) c.8155G>T (p.Val2719Phe) c.7513G>T (p.Val2505Phe) c.5023G>T (p.Val1675Phe) | |
10 | g.71807708T>A | CA377131665 | CDH23 | c.8501T>A (p.Val2834Asp) c.2434T>A (n.2434T>A) c.2098T>A (n.2098T>A) c.8516T>A (p.Val2839Asp) c.1781T>A (p.Val594Asp) n.2037T>A c.8696T>A (p.Val2899Asp) c.8630T>A (p.Val2877Asp) c.8693T>A (p.Val2898Asp) c.8690T>A (p.Val2897Asp) c.8636T>A (p.Val2879Asp) c.8606T>A (p.Val2869Asp) c.8561T>A (p.Val2854Asp) c.8156T>A (p.Val2719Asp) c.7514T>A (p.Val2505Asp) c.5024T>A (p.Val1675Asp) | |
10 | g.71807708T>C | CA377131666 | CDH23 | c.8501T>C (p.Val2834Ala) c.2434T>C (n.2434T>C) c.2098T>C (n.2098T>C) c.8516T>C (p.Val2839Ala) c.1781T>C (p.Val594Ala) n.2037T>C c.8696T>C (p.Val2899Ala) c.8630T>C (p.Val2877Ala) c.8693T>C (p.Val2898Ala) c.8690T>C (p.Val2897Ala) c.8636T>C (p.Val2879Ala) c.8606T>C (p.Val2869Ala) c.8561T>C (p.Val2854Ala) c.8156T>C (p.Val2719Ala) c.7514T>C (p.Val2505Ala) c.5024T>C (p.Val1675Ala) | gnomAD v4 |
10 | g.71807708T>G | CA377131667 | CDH23 | c.8501T>G (p.Val2834Gly) c.2434T>G (n.2434T>G) c.2098T>G (n.2098T>G) c.8516T>G (p.Val2839Gly) c.1781T>G (p.Val594Gly) n.2037T>G c.8696T>G (p.Val2899Gly) c.8630T>G (p.Val2877Gly) c.8693T>G (p.Val2898Gly) c.8690T>G (p.Val2897Gly) c.8636T>G (p.Val2879Gly) c.8606T>G (p.Val2869Gly) c.8561T>G (p.Val2854Gly) c.8156T>G (p.Val2719Gly) c.7514T>G (p.Val2505Gly) c.5024T>G (p.Val1675Gly) | |
10 | g.71807709T>A | CA470282594 | CDH23 | c.8502T>A (p.Val2834=) c.2435T>A (n.2435T>A) c.2099T>A (n.2099T>A) c.8517T>A (p.Val2839=) c.1782T>A (p.Val594=) n.2038T>A c.8697T>A (p.Val2899=) c.8631T>A (p.Val2877=) c.8694T>A (p.Val2898=) c.8691T>A (p.Val2897=) c.8637T>A (p.Val2879=) c.8607T>A (p.Val2869=) c.8562T>A (p.Val2854=) c.8157T>A (p.Val2719=) c.7515T>A (p.Val2505=) c.5025T>A (p.Val1675=) | |
10 | g.71807709T>C | CA470282598 | CDH23 | c.8502T>C (p.Val2834=) c.2435T>C (n.2435T>C) c.2099T>C (n.2099T>C) c.8517T>C (p.Val2839=) c.1782T>C (p.Val594=) n.2038T>C c.8697T>C (p.Val2899=) c.8631T>C (p.Val2877=) c.8694T>C (p.Val2898=) c.8691T>C (p.Val2897=) c.8637T>C (p.Val2879=) c.8607T>C (p.Val2869=) c.8562T>C (p.Val2854=) c.8157T>C (p.Val2719=) c.7515T>C (p.Val2505=) c.5025T>C (p.Val1675=) | |
10 | g.71807709T>G | CA470282596 | CDH23 | c.8502T>G (p.Val2834=) c.2435T>G (n.2435T>G) c.2099T>G (n.2099T>G) c.8517T>G (p.Val2839=) c.1782T>G (p.Val594=) n.2038T>G c.8697T>G (p.Val2899=) c.8631T>G (p.Val2877=) c.8694T>G (p.Val2898=) c.8691T>G (p.Val2897=) c.8637T>G (p.Val2879=) c.8607T>G (p.Val2869=) c.8562T>G (p.Val2854=) c.8157T>G (p.Val2719=) c.7515T>G (p.Val2505=) c.5025T>G (p.Val1675=) | |
10 | g.71807710G>A | CA377131672 | CDH23 | c.8503G>A (p.Val2835Met) c.2436G>A (n.2436G>A) c.2100G>A (n.2100G>A) c.8518G>A (p.Val2840Met) c.1783G>A (p.Val595Met) n.2039G>A c.8698G>A (p.Val2900Met) c.8632G>A (p.Val2878Met) c.8695G>A (p.Val2899Met) c.8692G>A (p.Val2898Met) c.8638G>A (p.Val2880Met) c.8608G>A (p.Val2870Met) c.8563G>A (p.Val2855Met) c.8158G>A (p.Val2720Met) c.7516G>A (p.Val2506Met) c.5026G>A (p.Val1676Met) | dbSNP |
10 | g.71807710G>C | CA377131669 | CDH23 | c.8503G>C (p.Val2835Leu) c.2436G>C (n.2436G>C) c.2100G>C (n.2100G>C) c.8518G>C (p.Val2840Leu) c.1783G>C (p.Val595Leu) n.2039G>C c.8698G>C (p.Val2900Leu) c.8632G>C (p.Val2878Leu) c.8695G>C (p.Val2899Leu) c.8692G>C (p.Val2898Leu) c.8638G>C (p.Val2880Leu) c.8608G>C (p.Val2870Leu) c.8563G>C (p.Val2855Leu) c.8158G>C (p.Val2720Leu) c.7516G>C (p.Val2506Leu) c.5026G>C (p.Val1676Leu) | |
10 | g.71807710G>T | CA377131671 | CDH23 | c.8503G>T (p.Val2835Leu) c.2436G>T (n.2436G>T) c.2100G>T (n.2100G>T) c.8518G>T (p.Val2840Leu) c.1783G>T (p.Val595Leu) n.2039G>T c.8698G>T (p.Val2900Leu) c.8632G>T (p.Val2878Leu) c.8695G>T (p.Val2899Leu) c.8692G>T (p.Val2898Leu) c.8638G>T (p.Val2880Leu) c.8608G>T (p.Val2870Leu) c.8563G>T (p.Val2855Leu) c.8158G>T (p.Val2720Leu) c.7516G>T (p.Val2506Leu) c.5026G>T (p.Val1676Leu) | |
10 | g.71807711T>A | CA377131674 | CDH23 | c.8504T>A (p.Val2835Glu) c.2437T>A (n.2437T>A) c.2101T>A (n.2101T>A) c.8519T>A (p.Val2840Glu) c.1784T>A (p.Val595Glu) n.2040T>A c.8699T>A (p.Val2900Glu) c.8633T>A (p.Val2878Glu) c.8696T>A (p.Val2899Glu) c.8693T>A (p.Val2898Glu) c.8639T>A (p.Val2880Glu) c.8609T>A (p.Val2870Glu) c.8564T>A (p.Val2855Glu) c.8159T>A (p.Val2720Glu) c.7517T>A (p.Val2506Glu) c.5027T>A (p.Val1676Glu) | |
10 | g.71807711T>C | CA377131676 | CDH23 | c.8504T>C (p.Val2835Ala) c.2437T>C (n.2437T>C) c.2101T>C (n.2101T>C) c.8519T>C (p.Val2840Ala) c.1784T>C (p.Val595Ala) n.2040T>C c.8699T>C (p.Val2900Ala) c.8633T>C (p.Val2878Ala) c.8696T>C (p.Val2899Ala) c.8693T>C (p.Val2898Ala) c.8639T>C (p.Val2880Ala) c.8609T>C (p.Val2870Ala) c.8564T>C (p.Val2855Ala) c.8159T>C (p.Val2720Ala) c.7517T>C (p.Val2506Ala) c.5027T>C (p.Val1676Ala) | ClinVar |
10 | g.71807711T>G | CA377131678 | CDH23 | c.8504T>G (p.Val2835Gly) c.2437T>G (n.2437T>G) c.2101T>G (n.2101T>G) c.8519T>G (p.Val2840Gly) c.1784T>G (p.Val595Gly) n.2040T>G c.8699T>G (p.Val2900Gly) c.8633T>G (p.Val2878Gly) c.8696T>G (p.Val2899Gly) c.8693T>G (p.Val2898Gly) c.8639T>G (p.Val2880Gly) c.8609T>G (p.Val2870Gly) c.8564T>G (p.Val2855Gly) c.8159T>G (p.Val2720Gly) c.7517T>G (p.Val2506Gly) c.5027T>G (p.Val1676Gly) | |
10 | g.71807712G>A | CA470282602 | CDH23 | c.8505G>A (p.Val2835=) c.2438G>A (n.2438G>A) c.2102G>A (n.2102G>A) c.8520G>A (p.Val2840=) c.1785G>A (p.Val595=) n.2041G>A c.8700G>A (p.Val2900=) c.8634G>A (p.Val2878=) c.8697G>A (p.Val2899=) c.8694G>A (p.Val2898=) c.8640G>A (p.Val2880=) c.8610G>A (p.Val2870=) c.8565G>A (p.Val2855=) c.8160G>A (p.Val2720=) c.7518G>A (p.Val2506=) c.5028G>A (p.Val1676=) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71807712G>C | CA470282604 | CDH23 | c.8505G>C (p.Val2835=) c.2438G>C (n.2438G>C) c.2102G>C (n.2102G>C) c.8520G>C (p.Val2840=) c.1785G>C (p.Val595=) n.2041G>C c.8700G>C (p.Val2900=) c.8634G>C (p.Val2878=) c.8697G>C (p.Val2899=) c.8694G>C (p.Val2898=) c.8640G>C (p.Val2880=) c.8610G>C (p.Val2870=) c.8565G>C (p.Val2855=) c.8160G>C (p.Val2720=) c.7518G>C (p.Val2506=) c.5028G>C (p.Val1676=) | |
10 | g.71807712G= | CA1918886716 | CDH23 | c.8505G= (p.Val2835=) c.2438G= (n.2438G=) c.2102G= (n.2102G=) c.8520G= (p.Val2840=) c.1785G= (p.Val595=) n.2041G= c.8700G= (p.Val2900=) c.8634G= (p.Val2878=) c.8697G= (p.Val2899=) c.8694G= (p.Val2898=) c.8640G= (p.Val2880=) c.8610G= (p.Val2870=) c.8565G= (p.Val2855=) c.8160G= (p.Val2720=) c.7518G= (p.Val2506=) c.5028G= (p.Val1676=) | |
10 | g.71807712G>T | CA470282605 | CDH23 | c.8505G>T (p.Val2835=) c.2438G>T (n.2438G>T) c.2102G>T (n.2102G>T) c.8520G>T (p.Val2840=) c.1785G>T (p.Val595=) n.2041G>T c.8700G>T (p.Val2900=) c.8634G>T (p.Val2878=) c.8697G>T (p.Val2899=) c.8694G>T (p.Val2898=) c.8640G>T (p.Val2880=) c.8610G>T (p.Val2870=) c.8565G>T (p.Val2855=) c.8160G>T (p.Val2720=) c.7518G>T (p.Val2506=) c.5028G>T (p.Val1676=) | |
10 | g.71807713C>A | CA377131680 | CDH23 | c.8506C>A (p.Leu2836Ile) c.2439C>A (n.2439C>A) c.2103C>A (n.2103C>A) c.8521C>A (p.Leu2841Ile) c.1786C>A (p.Leu596Ile) n.2042C>A c.8701C>A (p.Leu2901Ile) c.8635C>A (p.Leu2879Ile) c.8698C>A (p.Leu2900Ile) c.8695C>A (p.Leu2899Ile) c.8641C>A (p.Leu2881Ile) c.8611C>A (p.Leu2871Ile) c.8566C>A (p.Leu2856Ile) c.8161C>A (p.Leu2721Ile) c.7519C>A (p.Leu2507Ile) c.5029C>A (p.Leu1677Ile) | |
10 | g.71807713C= | CA1918886720 | CDH23 | c.8506C= (p.Leu2836=) c.2439C= (n.2439C=) c.2103C= (n.2103C=) c.8521C= (p.Leu2841=) c.1786C= (p.Leu596=) n.2042C= c.8701C= (p.Leu2901=) c.8635C= (p.Leu2879=) c.8698C= (p.Leu2900=) c.8695C= (p.Leu2899=) c.8641C= (p.Leu2881=) c.8611C= (p.Leu2871=) c.8566C= (p.Leu2856=) c.8161C= (p.Leu2721=) c.7519C= (p.Leu2507=) c.5029C= (p.Leu1677=) | |
10 | g.71807713C>G | CA377131682 | CDH23 | c.8506C>G (p.Leu2836Val) c.2439C>G (n.2439C>G) c.2103C>G (n.2103C>G) c.8521C>G (p.Leu2841Val) c.1786C>G (p.Leu596Val) n.2042C>G c.8701C>G (p.Leu2901Val) c.8635C>G (p.Leu2879Val) c.8698C>G (p.Leu2900Val) c.8695C>G (p.Leu2899Val) c.8641C>G (p.Leu2881Val) c.8611C>G (p.Leu2871Val) c.8566C>G (p.Leu2856Val) c.8161C>G (p.Leu2721Val) c.7519C>G (p.Leu2507Val) c.5029C>G (p.Leu1677Val) | |
10 | g.71807713C>T | CA470282607 | CDH23 | c.8506C>T (p.Leu2836=) c.2439C>T (n.2439C>T) c.2103C>T (n.2103C>T) c.8521C>T (p.Leu2841=) c.1786C>T (p.Leu596=) n.2042C>T c.8701C>T (p.Leu2901=) c.8635C>T (p.Leu2879=) c.8698C>T (p.Leu2900=) c.8695C>T (p.Leu2899=) c.8641C>T (p.Leu2881=) c.8611C>T (p.Leu2871=) c.8566C>T (p.Leu2856=) c.8161C>T (p.Leu2721=) c.7519C>T (p.Leu2507=) c.5029C>T (p.Leu1677=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71807714T>A | CA377131684 | CDH23 | c.8507T>A (p.Leu2836Gln) c.2440T>A (n.2440T>A) c.2104T>A (n.2104T>A) c.8522T>A (p.Leu2841Gln) c.1787T>A (p.Leu596Gln) n.2043T>A c.8702T>A (p.Leu2901Gln) c.8636T>A (p.Leu2879Gln) c.8699T>A (p.Leu2900Gln) c.8696T>A (p.Leu2899Gln) c.8642T>A (p.Leu2881Gln) c.8612T>A (p.Leu2871Gln) c.8567T>A (p.Leu2856Gln) c.8162T>A (p.Leu2721Gln) c.7520T>A (p.Leu2507Gln) c.5030T>A (p.Leu1677Gln) | |
10 | g.71807714T>C | CA377131688 | CDH23 | c.8507T>C (p.Leu2836Pro) c.2440T>C (n.2440T>C) c.2104T>C (n.2104T>C) c.8522T>C (p.Leu2841Pro) c.1787T>C (p.Leu596Pro) n.2043T>C c.8702T>C (p.Leu2901Pro) c.8636T>C (p.Leu2879Pro) c.8699T>C (p.Leu2900Pro) c.8696T>C (p.Leu2899Pro) c.8642T>C (p.Leu2881Pro) c.8612T>C (p.Leu2871Pro) c.8567T>C (p.Leu2856Pro) c.8162T>C (p.Leu2721Pro) c.7520T>C (p.Leu2507Pro) c.5030T>C (p.Leu1677Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.71807714T>G | CA377131686 | CDH23 | c.8507T>G (p.Leu2836Arg) c.2440T>G (n.2440T>G) c.2104T>G (n.2104T>G) c.8522T>G (p.Leu2841Arg) c.1787T>G (p.Leu596Arg) n.2043T>G c.8702T>G (p.Leu2901Arg) c.8636T>G (p.Leu2879Arg) c.8699T>G (p.Leu2900Arg) c.8696T>G (p.Leu2899Arg) c.8642T>G (p.Leu2881Arg) c.8612T>G (p.Leu2871Arg) c.8567T>G (p.Leu2856Arg) c.8162T>G (p.Leu2721Arg) c.7520T>G (p.Leu2507Arg) c.5030T>G (p.Leu1677Arg) | |
10 | g.71807714T= | CA1918886722 | CDH23 | c.8507T= (p.Leu2836=) c.2440T= (n.2440T=) c.2104T= (n.2104T=) c.8522T= (p.Leu2841=) c.1787T= (p.Leu596=) n.2043T= c.8702T= (p.Leu2901=) c.8636T= (p.Leu2879=) c.8699T= (p.Leu2900=) c.8696T= (p.Leu2899=) c.8642T= (p.Leu2881=) c.8612T= (p.Leu2871=) c.8567T= (p.Leu2856=) c.8162T= (p.Leu2721=) c.7520T= (p.Leu2507=) c.5030T= (p.Leu1677=) | |
10 | g.71807715A>C | CA470282609 | CDH23 | c.8508A>C (p.Leu2836=) c.2441A>C (n.2441A>C) c.2105A>C (n.2105A>C) c.8523A>C (p.Leu2841=) c.1788A>C (p.Leu596=) n.2044A>C c.8703A>C (p.Leu2901=) c.8637A>C (p.Leu2879=) c.8700A>C (p.Leu2900=) c.8697A>C (p.Leu2899=) c.8643A>C (p.Leu2881=) c.8613A>C (p.Leu2871=) c.8568A>C (p.Leu2856=) c.8163A>C (p.Leu2721=) c.7521A>C (p.Leu2507=) c.5031A>C (p.Leu1677=) | |
10 | g.71807715A>G | CA470282612 | CDH23 | c.8508A>G (p.Leu2836=) c.2441A>G (n.2441A>G) c.2105A>G (n.2105A>G) c.8523A>G (p.Leu2841=) c.1788A>G (p.Leu596=) n.2044A>G c.8703A>G (p.Leu2901=) c.8637A>G (p.Leu2879=) c.8700A>G (p.Leu2900=) c.8697A>G (p.Leu2899=) c.8643A>G (p.Leu2881=) c.8613A>G (p.Leu2871=) c.8568A>G (p.Leu2856=) c.8163A>G (p.Leu2721=) c.7521A>G (p.Leu2507=) c.5031A>G (p.Leu1677=) | |
10 | g.71807715A>T | CA470282614 | CDH23 | c.8508A>T (p.Leu2836=) c.2441A>T (n.2441A>T) c.2105A>T (n.2105A>T) c.8523A>T (p.Leu2841=) c.1788A>T (p.Leu596=) n.2044A>T c.8703A>T (p.Leu2901=) c.8637A>T (p.Leu2879=) c.8700A>T (p.Leu2900=) c.8697A>T (p.Leu2899=) c.8643A>T (p.Leu2881=) c.8613A>T (p.Leu2871=) c.8568A>T (p.Leu2856=) c.8163A>T (p.Leu2721=) c.7521A>T (p.Leu2507=) c.5031A>T (p.Leu1677=) | |
10 | g.71807716_71807736dup | CA2609586566 | CDH23 | c.8509_8529dup (p.Pro2843_Pro2844insGluAspIleAsnAspGlnPro) c.2442_2462dup (n.2442_2462dup) c.2106_2126dup (n.2106_2126dup) c.8524_8544dup (p.Pro2848_Pro2849insGluAspIleAsnAspGlnPro) c.1789_1809dup (p.Pro603_Pro604insGluAspIleAsnAspGlnPro) n.2045_2065dup c.8704_8724dup (p.Pro2908_Pro2909insGluAspIleAsnAspGlnPro) c.8638_8658dup (p.Pro2886_Pro2887insGluAspIleAsnAspGlnPro) c.8701_8721dup (p.Pro2907_Pro2908insGluAspIleAsnAspGlnPro) c.8698_8718dup (p.Pro2906_Pro2907insGluAspIleAsnAspGlnPro) c.8644_8664dup (p.Pro2888_Pro2889insGluAspIleAsnAspGlnPro) c.8614_8634dup (p.Pro2878_Pro2879insGluAspIleAsnAspGlnPro) c.8569_8589dup (p.Pro2863_Pro2864insGluAspIleAsnAspGlnPro) c.8164_8184dup (p.Pro2728_Pro2729insGluAspIleAsnAspGlnPro) c.7522_7542dup (p.Pro2514_Pro2515insGluAspIleAsnAspGlnPro) c.5032_5052dup (p.Pro1684_Pro1685insGluAspIleAsnAspGlnPro) | gnomAD v4 |
10 | g.71807716G>A | CA377131690 | CDH23 | c.8509G>A (p.Glu2837Lys) c.2442G>A (n.2442G>A) c.2106G>A (n.2106G>A) c.8524G>A (p.Glu2842Lys) c.1789G>A (p.Glu597Lys) n.2045G>A c.8704G>A (p.Glu2902Lys) c.8638G>A (p.Glu2880Lys) c.8701G>A (p.Glu2901Lys) c.8698G>A (p.Glu2900Lys) c.8644G>A (p.Glu2882Lys) c.8614G>A (p.Glu2872Lys) c.8569G>A (p.Glu2857Lys) c.8164G>A (p.Glu2722Lys) c.7522G>A (p.Glu2508Lys) c.5032G>A (p.Glu1678Lys) | gnomAD v4 |
10 | g.71807716G>C | CA377131692 | CDH23 | c.8509G>C (p.Glu2837Gln) c.2442G>C (n.2442G>C) c.2106G>C (n.2106G>C) c.8524G>C (p.Glu2842Gln) c.1789G>C (p.Glu597Gln) n.2045G>C c.8704G>C (p.Glu2902Gln) c.8638G>C (p.Glu2880Gln) c.8701G>C (p.Glu2901Gln) c.8698G>C (p.Glu2900Gln) c.8644G>C (p.Glu2882Gln) c.8614G>C (p.Glu2872Gln) c.8569G>C (p.Glu2857Gln) c.8164G>C (p.Glu2722Gln) c.7522G>C (p.Glu2508Gln) c.5032G>C (p.Glu1678Gln) | dbSNP |
10 | g.71807716G>T | CA377131694 | CDH23 | c.8509G>T (p.Glu2837Ter) c.2442G>T (n.2442G>T) c.2106G>T (n.2106G>T) c.8524G>T (p.Glu2842Ter) c.1789G>T (p.Glu597Ter) n.2045G>T c.8704G>T (p.Glu2902Ter) c.8638G>T (p.Glu2880Ter) c.8701G>T (p.Glu2901Ter) c.8698G>T (p.Glu2900Ter) c.8644G>T (p.Glu2882Ter) c.8614G>T (p.Glu2872Ter) c.8569G>T (p.Glu2857Ter) c.8164G>T (p.Glu2722Ter) c.7522G>T (p.Glu2508Ter) c.5032G>T (p.Glu1678Ter) | |
10 | g.71807717A= | CA1918886726 | CDH23 | c.8510A= (p.Glu2837=) c.2443A= (n.2443A=) c.2107A= (n.2107A=) c.8525A= (p.Glu2842=) c.1790A= (p.Glu597=) n.2046A= c.8705A= (p.Glu2902=) c.8639A= (p.Glu2880=) c.8702A= (p.Glu2901=) c.8699A= (p.Glu2900=) c.8645A= (p.Glu2882=) c.8615A= (p.Glu2872=) c.8570A= (p.Glu2857=) c.8165A= (p.Glu2722=) c.7523A= (p.Glu2508=) c.5033A= (p.Glu1678=) | |
10 | g.71807717A>C | CA377131695 | CDH23 | c.8510A>C (p.Glu2837Ala) c.2443A>C (n.2443A>C) c.2107A>C (n.2107A>C) c.8525A>C (p.Glu2842Ala) c.1790A>C (p.Glu597Ala) n.2046A>C c.8705A>C (p.Glu2902Ala) c.8639A>C (p.Glu2880Ala) c.8702A>C (p.Glu2901Ala) c.8699A>C (p.Glu2900Ala) c.8645A>C (p.Glu2882Ala) c.8615A>C (p.Glu2872Ala) c.8570A>C (p.Glu2857Ala) c.8165A>C (p.Glu2722Ala) c.7523A>C (p.Glu2508Ala) c.5033A>C (p.Glu1678Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.71807717A>G | CA377131697 | CDH23 | c.8510A>G (p.Glu2837Gly) c.2443A>G (n.2443A>G) c.2107A>G (n.2107A>G) c.8525A>G (p.Glu2842Gly) c.1790A>G (p.Glu597Gly) n.2046A>G c.8705A>G (p.Glu2902Gly) c.8639A>G (p.Glu2880Gly) c.8702A>G (p.Glu2901Gly) c.8699A>G (p.Glu2900Gly) c.8645A>G (p.Glu2882Gly) c.8615A>G (p.Glu2872Gly) c.8570A>G (p.Glu2857Gly) c.8165A>G (p.Glu2722Gly) c.7523A>G (p.Glu2508Gly) c.5033A>G (p.Glu1678Gly) | |
10 | g.71807717A>T | CA377131698 | CDH23 | c.8510A>T (p.Glu2837Val) c.2443A>T (n.2443A>T) c.2107A>T (n.2107A>T) c.8525A>T (p.Glu2842Val) c.1790A>T (p.Glu597Val) n.2046A>T c.8705A>T (p.Glu2902Val) c.8639A>T (p.Glu2880Val) c.8702A>T (p.Glu2901Val) c.8699A>T (p.Glu2900Val) c.8645A>T (p.Glu2882Val) c.8615A>T (p.Glu2872Val) c.8570A>T (p.Glu2857Val) c.8165A>T (p.Glu2722Val) c.7523A>T (p.Glu2508Val) c.5033A>T (p.Glu1678Val) | dbSNP |
10 | g.71807718G>A | CA470282616 | CDH23 | c.8511G>A (p.Glu2837=) c.2444G>A (n.2444G>A) c.2108G>A (n.2108G>A) c.8526G>A (p.Glu2842=) c.1791G>A (p.Glu597=) n.2047G>A c.8706G>A (p.Glu2902=) c.8640G>A (p.Glu2880=) c.8703G>A (p.Glu2901=) c.8700G>A (p.Glu2900=) c.8646G>A (p.Glu2882=) c.8616G>A (p.Glu2872=) c.8571G>A (p.Glu2857=) c.8166G>A (p.Glu2722=) c.7524G>A (p.Glu2508=) c.5034G>A (p.Glu1678=) | |
10 | g.71807718G>C | CA377131700 | CDH23 | c.8511G>C (p.Glu2837Asp) c.2444G>C (n.2444G>C) c.2108G>C (n.2108G>C) c.8526G>C (p.Glu2842Asp) c.1791G>C (p.Glu597Asp) n.2047G>C c.8706G>C (p.Glu2902Asp) c.8640G>C (p.Glu2880Asp) c.8703G>C (p.Glu2901Asp) c.8700G>C (p.Glu2900Asp) c.8646G>C (p.Glu2882Asp) c.8616G>C (p.Glu2872Asp) c.8571G>C (p.Glu2857Asp) c.8166G>C (p.Glu2722Asp) c.7524G>C (p.Glu2508Asp) c.5034G>C (p.Glu1678Asp) | dbSNP |
10 | g.71807718G= | CA1918886728 | CDH23 | c.8511G= (p.Glu2837=) c.2444G= (n.2444G=) c.2108G= (n.2108G=) c.8526G= (p.Glu2842=) c.1791G= (p.Glu597=) n.2047G= c.8706G= (p.Glu2902=) c.8640G= (p.Glu2880=) c.8703G= (p.Glu2901=) c.8700G= (p.Glu2900=) c.8646G= (p.Glu2882=) c.8616G= (p.Glu2872=) c.8571G= (p.Glu2857=) c.8166G= (p.Glu2722=) c.7524G= (p.Glu2508=) c.5034G= (p.Glu1678=) | |
10 | g.71807718G>T | CA377131702 | CDH23 | c.8511G>T (p.Glu2837Asp) c.2444G>T (n.2444G>T) c.2108G>T (n.2108G>T) c.8526G>T (p.Glu2842Asp) c.1791G>T (p.Glu597Asp) n.2047G>T c.8706G>T (p.Glu2902Asp) c.8640G>T (p.Glu2880Asp) c.8703G>T (p.Glu2901Asp) c.8700G>T (p.Glu2900Asp) c.8646G>T (p.Glu2882Asp) c.8616G>T (p.Glu2872Asp) c.8571G>T (p.Glu2857Asp) c.8166G>T (p.Glu2722Asp) c.7524G>T (p.Glu2508Asp) c.5034G>T (p.Glu1678Asp) | |
10 | g.71807719G>A | CA377131704 | CDH23 | c.8512G>A (p.Asp2838Asn) c.2445G>A (n.2445G>A) c.2109G>A (n.2109G>A) c.8527G>A (p.Asp2843Asn) c.1792G>A (p.Asp598Asn) n.2048G>A c.8707G>A (p.Asp2903Asn) c.8641G>A (p.Asp2881Asn) c.8704G>A (p.Asp2902Asn) c.8701G>A (p.Asp2901Asn) c.8647G>A (p.Asp2883Asn) c.8617G>A (p.Asp2873Asn) c.8572G>A (p.Asp2858Asn) c.8167G>A (p.Asp2723Asn) c.7525G>A (p.Asp2509Asn) c.5035G>A (p.Asp1679Asn) | dbSNP |
10 | g.71807719G>C | CA377131706 | CDH23 | c.8512G>C (p.Asp2838His) c.2445G>C (n.2445G>C) c.2109G>C (n.2109G>C) c.8527G>C (p.Asp2843His) c.1792G>C (p.Asp598His) n.2048G>C c.8707G>C (p.Asp2903His) c.8641G>C (p.Asp2881His) c.8704G>C (p.Asp2902His) c.8701G>C (p.Asp2901His) c.8647G>C (p.Asp2883His) c.8617G>C (p.Asp2873His) c.8572G>C (p.Asp2858His) c.8167G>C (p.Asp2723His) c.7525G>C (p.Asp2509His) c.5035G>C (p.Asp1679His) | dbSNP |
10 | g.71807719G>T | CA377131708 | CDH23 | c.8512G>T (p.Asp2838Tyr) c.2445G>T (n.2445G>T) c.2109G>T (n.2109G>T) c.8527G>T (p.Asp2843Tyr) c.1792G>T (p.Asp598Tyr) n.2048G>T c.8707G>T (p.Asp2903Tyr) c.8641G>T (p.Asp2881Tyr) c.8704G>T (p.Asp2902Tyr) c.8701G>T (p.Asp2901Tyr) c.8647G>T (p.Asp2883Tyr) c.8617G>T (p.Asp2873Tyr) c.8572G>T (p.Asp2858Tyr) c.8167G>T (p.Asp2723Tyr) c.7525G>T (p.Asp2509Tyr) c.5035G>T (p.Asp1679Tyr) |