WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.71807611A= | CA1918886548 | CDH23 | c.8404A= (p.Ile2802=) c.2337A= (n.2337A=) c.2001A= (n.2001A=) c.8419A= (p.Ile2807=) c.1684A= (p.Ile562=) n.1940A= c.8599A= (p.Ile2867=) c.8533A= (p.Ile2845=) c.8596A= (p.Ile2866=) c.8593A= (p.Ile2865=) c.8539A= (p.Ile2847=) c.8509A= (p.Ile2837=) c.8464A= (p.Ile2822=) c.8059A= (p.Ile2687=) c.7417A= (p.Ile2473=) c.4927A= (p.Ile1643=) | |
| 10 | g.71807611A>C | CA377131476 | CDH23 | c.8404A>C (p.Ile2802Leu) c.2337A>C (n.2337A>C) c.2001A>C (n.2001A>C) c.8419A>C (p.Ile2807Leu) c.1684A>C (p.Ile562Leu) n.1940A>C c.8599A>C (p.Ile2867Leu) c.8533A>C (p.Ile2845Leu) c.8596A>C (p.Ile2866Leu) c.8593A>C (p.Ile2865Leu) c.8539A>C (p.Ile2847Leu) c.8509A>C (p.Ile2837Leu) c.8464A>C (p.Ile2822Leu) c.8059A>C (p.Ile2687Leu) c.7417A>C (p.Ile2473Leu) c.4927A>C (p.Ile1643Leu) | dbSNP |
| 10 | g.71807611A>G | CA5546645 | CDH23 | c.8404A>G (p.Ile2802Val) c.2337A>G (n.2337A>G) c.2001A>G (n.2001A>G) c.8419A>G (p.Ile2807Val) c.1684A>G (p.Ile562Val) n.1940A>G c.8599A>G (p.Ile2867Val) c.8533A>G (p.Ile2845Val) c.8596A>G (p.Ile2866Val) c.8593A>G (p.Ile2865Val) c.8539A>G (p.Ile2847Val) c.8509A>G (p.Ile2837Val) c.8464A>G (p.Ile2822Val) c.8059A>G (p.Ile2687Val) c.7417A>G (p.Ile2473Val) c.4927A>G (p.Ile1643Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.71807611A>T | CA377131477 | CDH23 | c.8404A>T (p.Ile2802Phe) c.2337A>T (n.2337A>T) c.2001A>T (n.2001A>T) c.8419A>T (p.Ile2807Phe) c.1684A>T (p.Ile562Phe) n.1940A>T c.8599A>T (p.Ile2867Phe) c.8533A>T (p.Ile2845Phe) c.8596A>T (p.Ile2866Phe) c.8593A>T (p.Ile2865Phe) c.8539A>T (p.Ile2847Phe) c.8509A>T (p.Ile2837Phe) c.8464A>T (p.Ile2822Phe) c.8059A>T (p.Ile2687Phe) c.7417A>T (p.Ile2473Phe) c.4927A>T (p.Ile1643Phe) | |
| 10 | g.71807612T>A | CA377131480 | CDH23 | c.8405T>A (p.Ile2802Asn) c.2338T>A (n.2338T>A) c.2002T>A (n.2002T>A) c.8420T>A (p.Ile2807Asn) c.1685T>A (p.Ile562Asn) n.1941T>A c.8600T>A (p.Ile2867Asn) c.8534T>A (p.Ile2845Asn) c.8597T>A (p.Ile2866Asn) c.8594T>A (p.Ile2865Asn) c.8540T>A (p.Ile2847Asn) c.8510T>A (p.Ile2837Asn) c.8465T>A (p.Ile2822Asn) c.8060T>A (p.Ile2687Asn) c.7418T>A (p.Ile2473Asn) c.4928T>A (p.Ile1643Asn) | dbSNP gnomAD v4 |
| 10 | g.71807612T>C | CA377131478 | CDH23 | c.8405T>C (p.Ile2802Thr) c.2338T>C (n.2338T>C) c.2002T>C (n.2002T>C) c.8420T>C (p.Ile2807Thr) c.1685T>C (p.Ile562Thr) n.1941T>C c.8600T>C (p.Ile2867Thr) c.8534T>C (p.Ile2845Thr) c.8597T>C (p.Ile2866Thr) c.8594T>C (p.Ile2865Thr) c.8540T>C (p.Ile2847Thr) c.8510T>C (p.Ile2837Thr) c.8465T>C (p.Ile2822Thr) c.8060T>C (p.Ile2687Thr) c.7418T>C (p.Ile2473Thr) c.4928T>C (p.Ile1643Thr) | |
| 10 | g.71807612T>G | CA377131479 | CDH23 | c.8405T>G (p.Ile2802Ser) c.2338T>G (n.2338T>G) c.2002T>G (n.2002T>G) c.8420T>G (p.Ile2807Ser) c.1685T>G (p.Ile562Ser) n.1941T>G c.8600T>G (p.Ile2867Ser) c.8534T>G (p.Ile2845Ser) c.8597T>G (p.Ile2866Ser) c.8594T>G (p.Ile2865Ser) c.8540T>G (p.Ile2847Ser) c.8510T>G (p.Ile2837Ser) c.8465T>G (p.Ile2822Ser) c.8060T>G (p.Ile2687Ser) c.7418T>G (p.Ile2473Ser) c.4928T>G (p.Ile1643Ser) | |
| 10 | g.71807613C>A | CA470282452 | CDH23 | c.8406C>A (p.Ile2802=) c.2339C>A (n.2339C>A) c.2003C>A (n.2003C>A) c.8421C>A (p.Ile2807=) c.1686C>A (p.Ile562=) n.1942C>A c.8601C>A (p.Ile2867=) c.8535C>A (p.Ile2845=) c.8598C>A (p.Ile2866=) c.8595C>A (p.Ile2865=) c.8541C>A (p.Ile2847=) c.8511C>A (p.Ile2837=) c.8466C>A (p.Ile2822=) c.8061C>A (p.Ile2687=) c.7419C>A (p.Ile2473=) c.4929C>A (p.Ile1643=) | dbSNP |
| 10 | g.71807613C= | CA1918886550 | CDH23 | c.8406C= (p.Ile2802=) c.2339C= (n.2339C=) c.2003C= (n.2003C=) c.8421C= (p.Ile2807=) c.1686C= (p.Ile562=) n.1942C= c.8601C= (p.Ile2867=) c.8535C= (p.Ile2845=) c.8598C= (p.Ile2866=) c.8595C= (p.Ile2865=) c.8541C= (p.Ile2847=) c.8511C= (p.Ile2837=) c.8466C= (p.Ile2822=) c.8061C= (p.Ile2687=) c.7419C= (p.Ile2473=) c.4929C= (p.Ile1643=) | |
| 10 | g.71807613C>G | CA377131481 | CDH23 | c.8406C>G (p.Ile2802Met) c.2339C>G (n.2339C>G) c.2003C>G (n.2003C>G) c.8421C>G (p.Ile2807Met) c.1686C>G (p.Ile562Met) n.1942C>G c.8601C>G (p.Ile2867Met) c.8535C>G (p.Ile2845Met) c.8598C>G (p.Ile2866Met) c.8595C>G (p.Ile2865Met) c.8541C>G (p.Ile2847Met) c.8511C>G (p.Ile2837Met) c.8466C>G (p.Ile2822Met) c.8061C>G (p.Ile2687Met) c.7419C>G (p.Ile2473Met) c.4929C>G (p.Ile1643Met) | |
| 10 | g.71807613C>T | CA5546646 | CDH23 | c.8406C>T (p.Ile2802=) c.2339C>T (n.2339C>T) c.2003C>T (n.2003C>T) c.8421C>T (p.Ile2807=) c.1686C>T (p.Ile562=) n.1942C>T c.8601C>T (p.Ile2867=) c.8535C>T (p.Ile2845=) c.8598C>T (p.Ile2866=) c.8595C>T (p.Ile2865=) c.8541C>T (p.Ile2847=) c.8511C>T (p.Ile2837=) c.8466C>T (p.Ile2822=) c.8061C>T (p.Ile2687=) c.7419C>T (p.Ile2473=) c.4929C>T (p.Ile1643=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.71807614G>A | CA137596 | CDH23 | c.8407G>A (p.Val2803Ile) c.2340G>A (n.2340G>A) c.2004G>A (n.2004G>A) c.8422G>A (p.Val2808Ile) c.1687G>A (p.Val563Ile) n.1943G>A c.8602G>A (p.Val2868Ile) c.8536G>A (p.Val2846Ile) c.8599G>A (p.Val2867Ile) c.8596G>A (p.Val2866Ile) c.8542G>A (p.Val2848Ile) c.8512G>A (p.Val2838Ile) c.8467G>A (p.Val2823Ile) c.8062G>A (p.Val2688Ile) c.7420G>A (p.Val2474Ile) c.4930G>A (p.Val1644Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.71807614G>C | CA5546647 | CDH23 | c.8407G>C (p.Val2803Leu) c.2340G>C (n.2340G>C) c.2004G>C (n.2004G>C) c.8422G>C (p.Val2808Leu) c.1687G>C (p.Val563Leu) n.1943G>C c.8602G>C (p.Val2868Leu) c.8536G>C (p.Val2846Leu) c.8599G>C (p.Val2867Leu) c.8596G>C (p.Val2866Leu) c.8542G>C (p.Val2848Leu) c.8512G>C (p.Val2838Leu) c.8467G>C (p.Val2823Leu) c.8062G>C (p.Val2688Leu) c.7420G>C (p.Val2474Leu) c.4930G>C (p.Val1644Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.71807614G= | CA1918886553 | CDH23 | c.8407G= (p.Val2803=) c.2340G= (n.2340G=) c.2004G= (n.2004G=) c.8422G= (p.Val2808=) c.1687G= (p.Val563=) n.1943G= c.8602G= (p.Val2868=) c.8536G= (p.Val2846=) c.8599G= (p.Val2867=) c.8596G= (p.Val2866=) c.8542G= (p.Val2848=) c.8512G= (p.Val2838=) c.8467G= (p.Val2823=) c.8062G= (p.Val2688=) c.7420G= (p.Val2474=) c.4930G= (p.Val1644=) | |
| 10 | g.71807614G>T | CA377131482 | CDH23 | c.8407G>T (p.Val2803Phe) c.2340G>T (n.2340G>T) c.2004G>T (n.2004G>T) c.8422G>T (p.Val2808Phe) c.1687G>T (p.Val563Phe) n.1943G>T c.8602G>T (p.Val2868Phe) c.8536G>T (p.Val2846Phe) c.8599G>T (p.Val2867Phe) c.8596G>T (p.Val2866Phe) c.8542G>T (p.Val2848Phe) c.8512G>T (p.Val2838Phe) c.8467G>T (p.Val2823Phe) c.8062G>T (p.Val2688Phe) c.7420G>T (p.Val2474Phe) c.4930G>T (p.Val1644Phe) | dbSNP gnomAD v4 |
| 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.71807615T>A | CA377131483 | CDH23 | c.8408T>A (p.Val2803Asp) c.2341T>A (n.2341T>A) c.2005T>A (n.2005T>A) c.8423T>A (p.Val2808Asp) c.1688T>A (p.Val563Asp) n.1944T>A c.8603T>A (p.Val2868Asp) c.8537T>A (p.Val2846Asp) c.8600T>A (p.Val2867Asp) c.8597T>A (p.Val2866Asp) c.8543T>A (p.Val2848Asp) c.8513T>A (p.Val2838Asp) c.8468T>A (p.Val2823Asp) c.8063T>A (p.Val2688Asp) c.7421T>A (p.Val2474Asp) c.4931T>A (p.Val1644Asp) | |
| 10 | g.71807615T>C | CA377131484 | CDH23 | c.8408T>C (p.Val2803Ala) c.2341T>C (n.2341T>C) c.2005T>C (n.2005T>C) c.8423T>C (p.Val2808Ala) c.1688T>C (p.Val563Ala) n.1944T>C c.8603T>C (p.Val2868Ala) c.8537T>C (p.Val2846Ala) c.8600T>C (p.Val2867Ala) c.8597T>C (p.Val2866Ala) c.8543T>C (p.Val2848Ala) c.8513T>C (p.Val2838Ala) c.8468T>C (p.Val2823Ala) c.8063T>C (p.Val2688Ala) c.7421T>C (p.Val2474Ala) c.4931T>C (p.Val1644Ala) | |
| 10 | g.71807615T>G | CA377131485 | CDH23 | c.8408T>G (p.Val2803Gly) c.2341T>G (n.2341T>G) c.2005T>G (n.2005T>G) c.8423T>G (p.Val2808Gly) c.1688T>G (p.Val563Gly) n.1944T>G c.8603T>G (p.Val2868Gly) c.8537T>G (p.Val2846Gly) c.8600T>G (p.Val2867Gly) c.8597T>G (p.Val2866Gly) c.8543T>G (p.Val2848Gly) c.8513T>G (p.Val2838Gly) c.8468T>G (p.Val2823Gly) c.8063T>G (p.Val2688Gly) c.7421T>G (p.Val2474Gly) c.4931T>G (p.Val1644Gly) | |
| 10 | g.71807616C>A | CA470282453 | CDH23 | c.8409C>A (p.Val2803=) c.2342C>A (n.2342C>A) c.2006C>A (n.2006C>A) c.8424C>A (p.Val2808=) c.1689C>A (p.Val563=) n.1945C>A c.8604C>A (p.Val2868=) c.8538C>A (p.Val2846=) c.8601C>A (p.Val2867=) c.8598C>A (p.Val2866=) c.8544C>A (p.Val2848=) c.8514C>A (p.Val2838=) c.8469C>A (p.Val2823=) c.8064C>A (p.Val2688=) c.7422C>A (p.Val2474=) c.4932C>A (p.Val1644=) | |
| 10 | g.71807616C>G | CA470282454 | CDH23 | c.8409C>G (p.Val2803=) c.2342C>G (n.2342C>G) c.2006C>G (n.2006C>G) c.8424C>G (p.Val2808=) c.1689C>G (p.Val563=) n.1945C>G c.8604C>G (p.Val2868=) c.8538C>G (p.Val2846=) c.8601C>G (p.Val2867=) c.8598C>G (p.Val2866=) c.8544C>G (p.Val2848=) c.8514C>G (p.Val2838=) c.8469C>G (p.Val2823=) c.8064C>G (p.Val2688=) c.7422C>G (p.Val2474=) c.4932C>G (p.Val1644=) | dbSNP |
| 10 | g.71807616C>T | CA470282455 | CDH23 | c.8409C>T (p.Val2803=) c.2342C>T (n.2342C>T) c.2006C>T (n.2006C>T) c.8424C>T (p.Val2808=) c.1689C>T (p.Val563=) n.1945C>T c.8604C>T (p.Val2868=) c.8538C>T (p.Val2846=) c.8601C>T (p.Val2867=) c.8598C>T (p.Val2866=) c.8544C>T (p.Val2848=) c.8514C>T (p.Val2838=) c.8469C>T (p.Val2823=) c.8064C>T (p.Val2688=) c.7422C>T (p.Val2474=) c.4932C>T (p.Val1644=) | |
| 10 | g.71807617A= | CA1918886554 | CDH23 | c.8410A= (p.Lys2804=) c.2343A= (n.2343A=) c.2007A= (n.2007A=) c.8425A= (p.Lys2809=) c.1690A= (p.Lys564=) n.1946A= c.8605A= (p.Lys2869=) c.8539A= (p.Lys2847=) c.8602A= (p.Lys2868=) c.8599A= (p.Lys2867=) c.8545A= (p.Lys2849=) c.8515A= (p.Lys2839=) c.8470A= (p.Lys2824=) c.8065A= (p.Lys2689=) c.7423A= (p.Lys2475=) c.4933A= (p.Lys1645=) | |
| 10 | g.71807617A>C | CA377131486 | CDH23 | c.8410A>C (p.Lys2804Gln) c.2343A>C (n.2343A>C) c.2007A>C (n.2007A>C) c.8425A>C (p.Lys2809Gln) c.1690A>C (p.Lys564Gln) n.1946A>C c.8605A>C (p.Lys2869Gln) c.8539A>C (p.Lys2847Gln) c.8602A>C (p.Lys2868Gln) c.8599A>C (p.Lys2867Gln) c.8545A>C (p.Lys2849Gln) c.8515A>C (p.Lys2839Gln) c.8470A>C (p.Lys2824Gln) c.8065A>C (p.Lys2689Gln) c.7423A>C (p.Lys2475Gln) c.4933A>C (p.Lys1645Gln) | |
| 10 | g.71807617A>G | CA209437108 | CDH23 | c.8410A>G (p.Lys2804Glu) c.2343A>G (n.2343A>G) c.2007A>G (n.2007A>G) c.8425A>G (p.Lys2809Glu) c.1690A>G (p.Lys564Glu) n.1946A>G c.8605A>G (p.Lys2869Glu) c.8539A>G (p.Lys2847Glu) c.8602A>G (p.Lys2868Glu) c.8599A>G (p.Lys2867Glu) c.8545A>G (p.Lys2849Glu) c.8515A>G (p.Lys2839Glu) c.8470A>G (p.Lys2824Glu) c.8065A>G (p.Lys2689Glu) c.7423A>G (p.Lys2475Glu) c.4933A>G (p.Lys1645Glu) | dbSNP |
| 10 | g.71807617A>T | CA377131487 | CDH23 | c.8410A>T (p.Lys2804Ter) c.2343A>T (n.2343A>T) c.2007A>T (n.2007A>T) c.8425A>T (p.Lys2809Ter) c.1690A>T (p.Lys564Ter) n.1946A>T c.8605A>T (p.Lys2869Ter) c.8539A>T (p.Lys2847Ter) c.8602A>T (p.Lys2868Ter) c.8599A>T (p.Lys2867Ter) c.8545A>T (p.Lys2849Ter) c.8515A>T (p.Lys2839Ter) c.8470A>T (p.Lys2824Ter) c.8065A>T (p.Lys2689Ter) c.7423A>T (p.Lys2475Ter) c.4933A>T (p.Lys1645Ter) | |
| 10 | g.71807618A= | CA1918886556 | CDH23 | c.8411A= (p.Lys2804=) c.2344A= (n.2344A=) c.2008A= (n.2008A=) c.8426A= (p.Lys2809=) c.1691A= (p.Lys564=) n.1947A= c.8606A= (p.Lys2869=) c.8540A= (p.Lys2847=) c.8603A= (p.Lys2868=) c.8600A= (p.Lys2867=) c.8546A= (p.Lys2849=) c.8516A= (p.Lys2839=) c.8471A= (p.Lys2824=) c.8066A= (p.Lys2689=) c.7424A= (p.Lys2475=) c.4934A= (p.Lys1645=) | |
| 10 | g.71807618A>C | CA377131489 | CDH23 | c.8411A>C (p.Lys2804Thr) c.2344A>C (n.2344A>C) c.2008A>C (n.2008A>C) c.8426A>C (p.Lys2809Thr) c.1691A>C (p.Lys564Thr) n.1947A>C c.8606A>C (p.Lys2869Thr) c.8540A>C (p.Lys2847Thr) c.8603A>C (p.Lys2868Thr) c.8600A>C (p.Lys2867Thr) c.8546A>C (p.Lys2849Thr) c.8516A>C (p.Lys2839Thr) c.8471A>C (p.Lys2824Thr) c.8066A>C (p.Lys2689Thr) c.7424A>C (p.Lys2475Thr) c.4934A>C (p.Lys1645Thr) | |
| 10 | g.71807618A>G | CA228930 | CDH23 | c.8411A>G (p.Lys2804Arg) c.2344A>G (n.2344A>G) c.2008A>G (n.2008A>G) c.8426A>G (p.Lys2809Arg) c.1691A>G (p.Lys564Arg) n.1947A>G c.8606A>G (p.Lys2869Arg) c.8540A>G (p.Lys2847Arg) c.8603A>G (p.Lys2868Arg) c.8600A>G (p.Lys2867Arg) c.8546A>G (p.Lys2849Arg) c.8516A>G (p.Lys2839Arg) c.8471A>G (p.Lys2824Arg) c.8066A>G (p.Lys2689Arg) c.7424A>G (p.Lys2475Arg) c.4934A>G (p.Lys1645Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.71807618A>T | CA377131488 | CDH23 | c.8411A>T (p.Lys2804Met) c.2344A>T (n.2344A>T) c.2008A>T (n.2008A>T) c.8426A>T (p.Lys2809Met) c.1691A>T (p.Lys564Met) n.1947A>T c.8606A>T (p.Lys2869Met) c.8540A>T (p.Lys2847Met) c.8603A>T (p.Lys2868Met) c.8600A>T (p.Lys2867Met) c.8546A>T (p.Lys2849Met) c.8516A>T (p.Lys2839Met) c.8471A>T (p.Lys2824Met) c.8066A>T (p.Lys2689Met) c.7424A>T (p.Lys2475Met) c.4934A>T (p.Lys1645Met) | |
| 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) |