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.71803039_71803045del | CA2695199543 | CDH23 | c.7624_7630del (p.Gly2542Ter) c.1557_1563del (n.1557_1563del) c.1221_1227del (n.1221_1227del) c.7639_7645del (p.Gly2547Ter) c.904_910del (p.Gly302Ter) n.1160_1166del c.7819_7825del (p.Gly2607Ter) c.7753_7759del (p.Gly2585Ter) c.7816_7822del (p.Gly2606Ter) c.7813_7819del (p.Gly2605Ter) c.7759_7765del (p.Gly2587Ter) c.7729_7735del (p.Gly2577Ter) c.7684_7690del (p.Gly2562Ter) c.7279_7285del (p.Gly2427Ter) c.6637_6643del (p.Gly2213Ter) c.4147_4153del (p.Gly1383Ter) | ClinVar |
| 10 | g.71803045T>A | CA377160885 | CDH23 | c.7630T>A (p.Leu2544Met) c.1563T>A (n.1563T>A) c.1227T>A (n.1227T>A) c.7645T>A (p.Leu2549Met) c.910T>A (p.Leu304Met) n.1166T>A c.7825T>A (p.Leu2609Met) c.7759T>A (p.Leu2587Met) c.7822T>A (p.Leu2608Met) c.7819T>A (p.Leu2607Met) c.7765T>A (p.Leu2589Met) c.7735T>A (p.Leu2579Met) c.7690T>A (p.Leu2564Met) c.7285T>A (p.Leu2429Met) c.6643T>A (p.Leu2215Met) c.4153T>A (p.Leu1385Met) | |
| 10 | g.71803045T>C | CA137579 | CDH23 | c.7630T>C (p.Leu2544=) c.1563T>C (n.1563T>C) c.1227T>C (n.1227T>C) c.7645T>C (p.Leu2549=) c.910T>C (p.Leu304=) n.1166T>C c.7825T>C (p.Leu2609=) c.7759T>C (p.Leu2587=) c.7822T>C (p.Leu2608=) c.7819T>C (p.Leu2607=) c.7765T>C (p.Leu2589=) c.7735T>C (p.Leu2579=) c.7690T>C (p.Leu2564=) c.7285T>C (p.Leu2429=) c.6643T>C (p.Leu2215=) c.4153T>C (p.Leu1385=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.71803045T>G | CA377160889 | CDH23 | c.7630T>G (p.Leu2544Val) c.1563T>G (n.1563T>G) c.1227T>G (n.1227T>G) c.7645T>G (p.Leu2549Val) c.910T>G (p.Leu304Val) n.1166T>G c.7825T>G (p.Leu2609Val) c.7759T>G (p.Leu2587Val) c.7822T>G (p.Leu2608Val) c.7819T>G (p.Leu2607Val) c.7765T>G (p.Leu2589Val) c.7735T>G (p.Leu2579Val) c.7690T>G (p.Leu2564Val) c.7285T>G (p.Leu2429Val) c.6643T>G (p.Leu2215Val) c.4153T>G (p.Leu1385Val) | dbSNP gnomAD v4 |
| 10 | g.71803045T= | CA1918880446 | CDH23 | c.7630T= (p.Leu2544=) c.1563T= (n.1563T=) c.1227T= (n.1227T=) c.7645T= (p.Leu2549=) c.910T= (p.Leu304=) n.1166T= c.7825T= (p.Leu2609=) c.7759T= (p.Leu2587=) c.7822T= (p.Leu2608=) c.7819T= (p.Leu2607=) c.7765T= (p.Leu2589=) c.7735T= (p.Leu2579=) c.7690T= (p.Leu2564=) c.7285T= (p.Leu2429=) c.6643T= (p.Leu2215=) c.4153T= (p.Leu1385=) | |
| 10 | g.71803046T>A | CA377160890 | CDH23 | c.7631T>A (p.Leu2544Ter) c.1564T>A (n.1564T>A) c.1228T>A (n.1228T>A) c.7646T>A (p.Leu2549Ter) c.911T>A (p.Leu304Ter) n.1167T>A c.7826T>A (p.Leu2609Ter) c.7760T>A (p.Leu2587Ter) c.7823T>A (p.Leu2608Ter) c.7820T>A (p.Leu2607Ter) c.7766T>A (p.Leu2589Ter) c.7736T>A (p.Leu2579Ter) c.7691T>A (p.Leu2564Ter) c.7286T>A (p.Leu2429Ter) c.6644T>A (p.Leu2215Ter) c.4154T>A (p.Leu1385Ter) | |
| 10 | g.71803046T>C | CA377160892 | CDH23 | c.7631T>C (p.Leu2544Ser) c.1564T>C (n.1564T>C) c.1228T>C (n.1228T>C) c.7646T>C (p.Leu2549Ser) c.911T>C (p.Leu304Ser) n.1167T>C c.7826T>C (p.Leu2609Ser) c.7760T>C (p.Leu2587Ser) c.7823T>C (p.Leu2608Ser) c.7820T>C (p.Leu2607Ser) c.7766T>C (p.Leu2589Ser) c.7736T>C (p.Leu2579Ser) c.7691T>C (p.Leu2564Ser) c.7286T>C (p.Leu2429Ser) c.6644T>C (p.Leu2215Ser) c.4154T>C (p.Leu1385Ser) | |
| 10 | g.71803046T>G | CA377160894 | CDH23 | c.7631T>G (p.Leu2544Trp) c.1564T>G (n.1564T>G) c.1228T>G (n.1228T>G) c.7646T>G (p.Leu2549Trp) c.911T>G (p.Leu304Trp) n.1167T>G c.7826T>G (p.Leu2609Trp) c.7760T>G (p.Leu2587Trp) c.7823T>G (p.Leu2608Trp) c.7820T>G (p.Leu2607Trp) c.7766T>G (p.Leu2589Trp) c.7736T>G (p.Leu2579Trp) c.7691T>G (p.Leu2564Trp) c.7286T>G (p.Leu2429Trp) c.6644T>G (p.Leu2215Trp) c.4154T>G (p.Leu1385Trp) | |
| 10 | g.71803047G>A | CA5546391 | CDH23 | c.7632G>A (p.Leu2544=) c.1565G>A (n.1565G>A) c.1229G>A (n.1229G>A) c.7647G>A (p.Leu2549=) c.912G>A (p.Leu304=) n.1168G>A c.7827G>A (p.Leu2609=) c.7761G>A (p.Leu2587=) c.7824G>A (p.Leu2608=) c.7821G>A (p.Leu2607=) c.7767G>A (p.Leu2589=) c.7737G>A (p.Leu2579=) c.7692G>A (p.Leu2564=) c.7287G>A (p.Leu2429=) c.6645G>A (p.Leu2215=) c.4155G>A (p.Leu1385=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.71803047G>C | CA377160897 | CDH23 | c.7632G>C (p.Leu2544Phe) c.1565G>C (n.1565G>C) c.1229G>C (n.1229G>C) c.7647G>C (p.Leu2549Phe) c.912G>C (p.Leu304Phe) n.1168G>C c.7827G>C (p.Leu2609Phe) c.7761G>C (p.Leu2587Phe) c.7824G>C (p.Leu2608Phe) c.7821G>C (p.Leu2607Phe) c.7767G>C (p.Leu2589Phe) c.7737G>C (p.Leu2579Phe) c.7692G>C (p.Leu2564Phe) c.7287G>C (p.Leu2429Phe) c.6645G>C (p.Leu2215Phe) c.4155G>C (p.Leu1385Phe) | ClinVar dbSNP gnomAD v4 |
| 10 | g.71803047G= | CA1918880447 | CDH23 | c.7632G= (p.Leu2544=) c.1565G= (n.1565G=) c.1229G= (n.1229G=) c.7647G= (p.Leu2549=) c.912G= (p.Leu304=) n.1168G= c.7827G= (p.Leu2609=) c.7761G= (p.Leu2587=) c.7824G= (p.Leu2608=) c.7821G= (p.Leu2607=) c.7767G= (p.Leu2589=) c.7737G= (p.Leu2579=) c.7692G= (p.Leu2564=) c.7287G= (p.Leu2429=) c.6645G= (p.Leu2215=) c.4155G= (p.Leu1385=) | |
| 10 | g.71803047G>T | CA5546390 | CDH23 | c.7632G>T (p.Leu2544Phe) c.1565G>T (n.1565G>T) c.1229G>T (n.1229G>T) c.7647G>T (p.Leu2549Phe) c.912G>T (p.Leu304Phe) n.1168G>T c.7827G>T (p.Leu2609Phe) c.7761G>T (p.Leu2587Phe) c.7824G>T (p.Leu2608Phe) c.7821G>T (p.Leu2607Phe) c.7767G>T (p.Leu2589Phe) c.7737G>T (p.Leu2579Phe) c.7692G>T (p.Leu2564Phe) c.7287G>T (p.Leu2429Phe) c.6645G>T (p.Leu2215Phe) c.4155G>T (p.Leu1385Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.71803048A= | CA1918880448 | CDH23 | c.7633A= (p.Thr2545=) c.1566A= (n.1566A=) c.1230A= (n.1230A=) c.7648A= (p.Thr2550=) c.913A= (p.Thr305=) n.1169A= c.7828A= (p.Thr2610=) c.7762A= (p.Thr2588=) c.7825A= (p.Thr2609=) c.7822A= (p.Thr2608=) c.7768A= (p.Thr2590=) c.7738A= (p.Thr2580=) c.7693A= (p.Thr2565=) c.7288A= (p.Thr2430=) c.6646A= (p.Thr2216=) c.4156A= (p.Thr1386=) | |
| 10 | g.71803048A>C | CA377160904 | CDH23 | c.7633A>C (p.Thr2545Pro) c.1566A>C (n.1566A>C) c.1230A>C (n.1230A>C) c.7648A>C (p.Thr2550Pro) c.913A>C (p.Thr305Pro) n.1169A>C c.7828A>C (p.Thr2610Pro) c.7762A>C (p.Thr2588Pro) c.7825A>C (p.Thr2609Pro) c.7822A>C (p.Thr2608Pro) c.7768A>C (p.Thr2590Pro) c.7738A>C (p.Thr2580Pro) c.7693A>C (p.Thr2565Pro) c.7288A>C (p.Thr2430Pro) c.6646A>C (p.Thr2216Pro) c.4156A>C (p.Thr1386Pro) | |
| 10 | g.71803048A>G | CA377160905 | CDH23 | c.7633A>G (p.Thr2545Ala) c.1566A>G (n.1566A>G) c.1230A>G (n.1230A>G) c.7648A>G (p.Thr2550Ala) c.913A>G (p.Thr305Ala) n.1169A>G c.7828A>G (p.Thr2610Ala) c.7762A>G (p.Thr2588Ala) c.7825A>G (p.Thr2609Ala) c.7822A>G (p.Thr2608Ala) c.7768A>G (p.Thr2590Ala) c.7738A>G (p.Thr2580Ala) c.7693A>G (p.Thr2565Ala) c.7288A>G (p.Thr2430Ala) c.6646A>G (p.Thr2216Ala) c.4156A>G (p.Thr1386Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.71803048A>T | CA377160902 | CDH23 | c.7633A>T (p.Thr2545Ser) c.1566A>T (n.1566A>T) c.1230A>T (n.1230A>T) c.7648A>T (p.Thr2550Ser) c.913A>T (p.Thr305Ser) n.1169A>T c.7828A>T (p.Thr2610Ser) c.7762A>T (p.Thr2588Ser) c.7825A>T (p.Thr2609Ser) c.7822A>T (p.Thr2608Ser) c.7768A>T (p.Thr2590Ser) c.7738A>T (p.Thr2580Ser) c.7693A>T (p.Thr2565Ser) c.7288A>T (p.Thr2430Ser) c.6646A>T (p.Thr2216Ser) c.4156A>T (p.Thr1386Ser) | |
| 10 | g.71803049C>A | CA377160907 | CDH23 | c.7634C>A (p.Thr2545Asn) c.1567C>A (n.1567C>A) c.1231C>A (n.1231C>A) c.7649C>A (p.Thr2550Asn) c.914C>A (p.Thr305Asn) n.1170C>A c.7829C>A (p.Thr2610Asn) c.7763C>A (p.Thr2588Asn) c.7826C>A (p.Thr2609Asn) c.7823C>A (p.Thr2608Asn) c.7769C>A (p.Thr2590Asn) c.7739C>A (p.Thr2580Asn) c.7694C>A (p.Thr2565Asn) c.7289C>A (p.Thr2430Asn) c.6647C>A (p.Thr2216Asn) c.4157C>A (p.Thr1386Asn) | |
| 10 | g.71803049C= | CA1918880449 | CDH23 | c.7634C= (p.Thr2545=) c.1567C= (n.1567C=) c.1231C= (n.1231C=) c.7649C= (p.Thr2550=) c.914C= (p.Thr305=) n.1170C= c.7829C= (p.Thr2610=) c.7763C= (p.Thr2588=) c.7826C= (p.Thr2609=) c.7823C= (p.Thr2608=) c.7769C= (p.Thr2590=) c.7739C= (p.Thr2580=) c.7694C= (p.Thr2565=) c.7289C= (p.Thr2430=) c.6647C= (p.Thr2216=) c.4157C= (p.Thr1386=) | |
| 10 | g.71803049C>G | CA209472493 | CDH23 | c.7634C>G (p.Thr2545Ser) c.1567C>G (n.1567C>G) c.1231C>G (n.1231C>G) c.7649C>G (p.Thr2550Ser) c.914C>G (p.Thr305Ser) n.1170C>G c.7829C>G (p.Thr2610Ser) c.7763C>G (p.Thr2588Ser) c.7826C>G (p.Thr2609Ser) c.7823C>G (p.Thr2608Ser) c.7769C>G (p.Thr2590Ser) c.7739C>G (p.Thr2580Ser) c.7694C>G (p.Thr2565Ser) c.7289C>G (p.Thr2430Ser) c.6647C>G (p.Thr2216Ser) c.4157C>G (p.Thr1386Ser) | dbSNP |
| 10 | g.71803049C>T | CA5546392 | CDH23 | c.7634C>T (p.Thr2545Ile) c.1567C>T (n.1567C>T) c.1231C>T (n.1231C>T) c.7649C>T (p.Thr2550Ile) c.914C>T (p.Thr305Ile) n.1170C>T c.7829C>T (p.Thr2610Ile) c.7763C>T (p.Thr2588Ile) c.7826C>T (p.Thr2609Ile) c.7823C>T (p.Thr2608Ile) c.7769C>T (p.Thr2590Ile) c.7739C>T (p.Thr2580Ile) c.7694C>T (p.Thr2565Ile) c.7289C>T (p.Thr2430Ile) c.6647C>T (p.Thr2216Ile) c.4157C>T (p.Thr1386Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.71803050C>A | CA470062524 | CDH23 | c.7635C>A (p.Thr2545=) c.1568C>A (n.1568C>A) c.1232C>A (n.1232C>A) c.7650C>A (p.Thr2550=) c.915C>A (p.Thr305=) n.1171C>A c.7830C>A (p.Thr2610=) c.7764C>A (p.Thr2588=) c.7827C>A (p.Thr2609=) c.7824C>A (p.Thr2608=) c.7770C>A (p.Thr2590=) c.7740C>A (p.Thr2580=) c.7695C>A (p.Thr2565=) c.7290C>A (p.Thr2430=) c.6648C>A (p.Thr2216=) c.4158C>A (p.Thr1386=) | |
| 10 | g.71803050C= | CA1918880450 | CDH23 | c.7635C= (p.Thr2545=) c.1568C= (n.1568C=) c.1232C= (n.1232C=) c.7650C= (p.Thr2550=) c.915C= (p.Thr305=) n.1171C= c.7830C= (p.Thr2610=) c.7764C= (p.Thr2588=) c.7827C= (p.Thr2609=) c.7824C= (p.Thr2608=) c.7770C= (p.Thr2590=) c.7740C= (p.Thr2580=) c.7695C= (p.Thr2565=) c.7290C= (p.Thr2430=) c.6648C= (p.Thr2216=) c.4158C= (p.Thr1386=) | |
| 10 | g.71803050C>G | CA470062525 | CDH23 | c.7635C>G (p.Thr2545=) c.1568C>G (n.1568C>G) c.1232C>G (n.1232C>G) c.7650C>G (p.Thr2550=) c.915C>G (p.Thr305=) n.1171C>G c.7830C>G (p.Thr2610=) c.7764C>G (p.Thr2588=) c.7827C>G (p.Thr2609=) c.7824C>G (p.Thr2608=) c.7770C>G (p.Thr2590=) c.7740C>G (p.Thr2580=) c.7695C>G (p.Thr2565=) c.7290C>G (p.Thr2430=) c.6648C>G (p.Thr2216=) c.4158C>G (p.Thr1386=) | |
| 10 | g.71803050C>T | CA209472501 | CDH23 | c.7635C>T (p.Thr2545=) c.1568C>T (n.1568C>T) c.1232C>T (n.1232C>T) c.7650C>T (p.Thr2550=) c.915C>T (p.Thr305=) n.1171C>T c.7830C>T (p.Thr2610=) c.7764C>T (p.Thr2588=) c.7827C>T (p.Thr2609=) c.7824C>T (p.Thr2608=) c.7770C>T (p.Thr2590=) c.7740C>T (p.Thr2580=) c.7695C>T (p.Thr2565=) c.7290C>T (p.Thr2430=) c.6648C>T (p.Thr2216=) c.4158C>T (p.Thr1386=) | ClinVar dbSNP |
| 10 | g.71803051T>A | CA377160909 | CDH23 | c.7636T>A (p.Tyr2546Asn) c.1569T>A (n.1569T>A) c.1233T>A (n.1233T>A) c.7651T>A (p.Tyr2551Asn) c.916T>A (p.Tyr306Asn) n.1172T>A c.7831T>A (p.Tyr2611Asn) c.7765T>A (p.Tyr2589Asn) c.7828T>A (p.Tyr2610Asn) c.7825T>A (p.Tyr2609Asn) c.7771T>A (p.Tyr2591Asn) c.7741T>A (p.Tyr2581Asn) c.7696T>A (p.Tyr2566Asn) c.7291T>A (p.Tyr2431Asn) c.6649T>A (p.Tyr2217Asn) c.4159T>A (p.Tyr1387Asn) | |
| 10 | g.71803051T>C | CA377160910 | CDH23 | c.7636T>C (p.Tyr2546His) c.1569T>C (n.1569T>C) c.1233T>C (n.1233T>C) c.7651T>C (p.Tyr2551His) c.916T>C (p.Tyr306His) n.1172T>C c.7831T>C (p.Tyr2611His) c.7765T>C (p.Tyr2589His) c.7828T>C (p.Tyr2610His) c.7825T>C (p.Tyr2609His) c.7771T>C (p.Tyr2591His) c.7741T>C (p.Tyr2581His) c.7696T>C (p.Tyr2566His) c.7291T>C (p.Tyr2431His) c.6649T>C (p.Tyr2217His) c.4159T>C (p.Tyr1387His) | gnomAD v4 |
| 10 | g.71803051T>G | CA377160911 | CDH23 | c.7636T>G (p.Tyr2546Asp) c.1569T>G (n.1569T>G) c.1233T>G (n.1233T>G) c.7651T>G (p.Tyr2551Asp) c.916T>G (p.Tyr306Asp) n.1172T>G c.7831T>G (p.Tyr2611Asp) c.7765T>G (p.Tyr2589Asp) c.7828T>G (p.Tyr2610Asp) c.7825T>G (p.Tyr2609Asp) c.7771T>G (p.Tyr2591Asp) c.7741T>G (p.Tyr2581Asp) c.7696T>G (p.Tyr2566Asp) c.7291T>G (p.Tyr2431Asp) c.6649T>G (p.Tyr2217Asp) c.4159T>G (p.Tyr1387Asp) | |
| 10 | g.71803052A>C | CA377160914 | CDH23 | c.7637A>C (p.Tyr2546Ser) c.1570A>C (n.1570A>C) c.1234A>C (n.1234A>C) c.7652A>C (p.Tyr2551Ser) c.917A>C (p.Tyr306Ser) n.1173A>C c.7832A>C (p.Tyr2611Ser) c.7766A>C (p.Tyr2589Ser) c.7829A>C (p.Tyr2610Ser) c.7826A>C (p.Tyr2609Ser) c.7772A>C (p.Tyr2591Ser) c.7742A>C (p.Tyr2581Ser) c.7697A>C (p.Tyr2566Ser) c.7292A>C (p.Tyr2431Ser) c.6650A>C (p.Tyr2217Ser) c.4160A>C (p.Tyr1387Ser) | |
| 10 | g.71803052A>G | CA377160912 | CDH23 | c.7637A>G (p.Tyr2546Cys) c.1570A>G (n.1570A>G) c.1234A>G (n.1234A>G) c.7652A>G (p.Tyr2551Cys) c.917A>G (p.Tyr306Cys) n.1173A>G c.7832A>G (p.Tyr2611Cys) c.7766A>G (p.Tyr2589Cys) c.7829A>G (p.Tyr2610Cys) c.7826A>G (p.Tyr2609Cys) c.7772A>G (p.Tyr2591Cys) c.7742A>G (p.Tyr2581Cys) c.7697A>G (p.Tyr2566Cys) c.7292A>G (p.Tyr2431Cys) c.6650A>G (p.Tyr2217Cys) c.4160A>G (p.Tyr1387Cys) | gnomAD v4 |
| 10 | g.71803052A>T | CA377160913 | CDH23 | c.7637A>T (p.Tyr2546Phe) c.1570A>T (n.1570A>T) c.1234A>T (n.1234A>T) c.7652A>T (p.Tyr2551Phe) c.917A>T (p.Tyr306Phe) n.1173A>T c.7832A>T (p.Tyr2611Phe) c.7766A>T (p.Tyr2589Phe) c.7829A>T (p.Tyr2610Phe) c.7826A>T (p.Tyr2609Phe) c.7772A>T (p.Tyr2591Phe) c.7742A>T (p.Tyr2581Phe) c.7697A>T (p.Tyr2566Phe) c.7292A>T (p.Tyr2431Phe) c.6650A>T (p.Tyr2217Phe) c.4160A>T (p.Tyr1387Phe) | |
| 10 | g.71803053C>A | CA377160916 | CDH23 | c.7638C>A (p.Tyr2546Ter) c.1571C>A (n.1571C>A) c.1235C>A (n.1235C>A) c.7653C>A (p.Tyr2551Ter) c.918C>A (p.Tyr306Ter) n.1174C>A c.7833C>A (p.Tyr2611Ter) c.7767C>A (p.Tyr2589Ter) c.7830C>A (p.Tyr2610Ter) c.7827C>A (p.Tyr2609Ter) c.7773C>A (p.Tyr2591Ter) c.7743C>A (p.Tyr2581Ter) c.7698C>A (p.Tyr2566Ter) c.7293C>A (p.Tyr2431Ter) c.6651C>A (p.Tyr2217Ter) c.4161C>A (p.Tyr1387Ter) | |
| 10 | g.71803053C= | CA1918880451 | CDH23 | c.7638C= (p.Tyr2546=) c.1571C= (n.1571C=) c.1235C= (n.1235C=) c.7653C= (p.Tyr2551=) c.918C= (p.Tyr306=) n.1174C= c.7833C= (p.Tyr2611=) c.7767C= (p.Tyr2589=) c.7830C= (p.Tyr2610=) c.7827C= (p.Tyr2609=) c.7773C= (p.Tyr2591=) c.7743C= (p.Tyr2581=) c.7698C= (p.Tyr2566=) c.7293C= (p.Tyr2431=) c.6651C= (p.Tyr2217=) c.4161C= (p.Tyr1387=) | |
| 10 | g.71803053C>G | CA377160917 | CDH23 | c.7638C>G (p.Tyr2546Ter) c.1571C>G (n.1571C>G) c.1235C>G (n.1235C>G) c.7653C>G (p.Tyr2551Ter) c.918C>G (p.Tyr306Ter) n.1174C>G c.7833C>G (p.Tyr2611Ter) c.7767C>G (p.Tyr2589Ter) c.7830C>G (p.Tyr2610Ter) c.7827C>G (p.Tyr2609Ter) c.7773C>G (p.Tyr2591Ter) c.7743C>G (p.Tyr2581Ter) c.7698C>G (p.Tyr2566Ter) c.7293C>G (p.Tyr2431Ter) c.6651C>G (p.Tyr2217Ter) c.4161C>G (p.Tyr1387Ter) | |
| 10 | g.71803053C>T | CA5546393 | CDH23 | c.7638C>T (p.Tyr2546=) c.1571C>T (n.1571C>T) c.1235C>T (n.1235C>T) c.7653C>T (p.Tyr2551=) c.918C>T (p.Tyr306=) n.1174C>T c.7833C>T (p.Tyr2611=) c.7767C>T (p.Tyr2589=) c.7830C>T (p.Tyr2610=) c.7827C>T (p.Tyr2609=) c.7773C>T (p.Tyr2591=) c.7743C>T (p.Tyr2581=) c.7698C>T (p.Tyr2566=) c.7293C>T (p.Tyr2431=) c.6651C>T (p.Tyr2217=) c.4161C>T (p.Tyr1387=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.71803054T>A | CA377160923 | CDH23 | c.7639T>A (p.Ser2547Thr) c.1572T>A (n.1572T>A) c.1236T>A (n.1236T>A) c.7654T>A (p.Ser2552Thr) c.919T>A (p.Ser307Thr) n.1175T>A c.7834T>A (p.Ser2612Thr) c.7768T>A (p.Ser2590Thr) c.7831T>A (p.Ser2611Thr) c.7828T>A (p.Ser2610Thr) c.7774T>A (p.Ser2592Thr) c.7744T>A (p.Ser2582Thr) c.7699T>A (p.Ser2567Thr) c.7294T>A (p.Ser2432Thr) c.6652T>A (p.Ser2218Thr) c.4162T>A (p.Ser1388Thr) | |
| 10 | g.71803054T>C | CA377160925 | CDH23 | c.7639T>C (p.Ser2547Pro) c.1572T>C (n.1572T>C) c.1236T>C (n.1236T>C) c.7654T>C (p.Ser2552Pro) c.919T>C (p.Ser307Pro) n.1175T>C c.7834T>C (p.Ser2612Pro) c.7768T>C (p.Ser2590Pro) c.7831T>C (p.Ser2611Pro) c.7828T>C (p.Ser2610Pro) c.7774T>C (p.Ser2592Pro) c.7744T>C (p.Ser2582Pro) c.7699T>C (p.Ser2567Pro) c.7294T>C (p.Ser2432Pro) c.6652T>C (p.Ser2218Pro) c.4162T>C (p.Ser1388Pro) | |
| 10 | g.71803054T>G | CA377160926 | CDH23 | c.7639T>G (p.Ser2547Ala) c.1572T>G (n.1572T>G) c.1236T>G (n.1236T>G) c.7654T>G (p.Ser2552Ala) c.919T>G (p.Ser307Ala) n.1175T>G c.7834T>G (p.Ser2612Ala) c.7768T>G (p.Ser2590Ala) c.7831T>G (p.Ser2611Ala) c.7828T>G (p.Ser2610Ala) c.7774T>G (p.Ser2592Ala) c.7744T>G (p.Ser2582Ala) c.7699T>G (p.Ser2567Ala) c.7294T>G (p.Ser2432Ala) c.6652T>G (p.Ser2218Ala) c.4162T>G (p.Ser1388Ala) | |
| 10 | g.71803055C>A | CA377160927 | CDH23 | c.7640C>A (p.Ser2547Ter) c.1573C>A (n.1573C>A) c.1237C>A (n.1237C>A) c.7655C>A (p.Ser2552Ter) c.920C>A (p.Ser307Ter) n.1176C>A c.7835C>A (p.Ser2612Ter) c.7769C>A (p.Ser2590Ter) c.7832C>A (p.Ser2611Ter) c.7829C>A (p.Ser2610Ter) c.7775C>A (p.Ser2592Ter) c.7745C>A (p.Ser2582Ter) c.7700C>A (p.Ser2567Ter) c.7295C>A (p.Ser2432Ter) c.6653C>A (p.Ser2218Ter) c.4163C>A (p.Ser1388Ter) | |
| 10 | g.71803055C>G | CA377160929 | CDH23 | c.7640C>G (p.Ser2547Ter) c.1573C>G (n.1573C>G) c.1237C>G (n.1237C>G) c.7655C>G (p.Ser2552Ter) c.920C>G (p.Ser307Ter) n.1176C>G c.7835C>G (p.Ser2612Ter) c.7769C>G (p.Ser2590Ter) c.7832C>G (p.Ser2611Ter) c.7829C>G (p.Ser2610Ter) c.7775C>G (p.Ser2592Ter) c.7745C>G (p.Ser2582Ter) c.7700C>G (p.Ser2567Ter) c.7295C>G (p.Ser2432Ter) c.6653C>G (p.Ser2218Ter) c.4163C>G (p.Ser1388Ter) | |
| 10 | g.71803055C>T | CA377160928 | CDH23 | c.7640C>T (p.Ser2547Leu) c.1573C>T (n.1573C>T) c.1237C>T (n.1237C>T) c.7655C>T (p.Ser2552Leu) c.920C>T (p.Ser307Leu) n.1176C>T c.7835C>T (p.Ser2612Leu) c.7769C>T (p.Ser2590Leu) c.7832C>T (p.Ser2611Leu) c.7829C>T (p.Ser2610Leu) c.7775C>T (p.Ser2592Leu) c.7745C>T (p.Ser2582Leu) c.7700C>T (p.Ser2567Leu) c.7295C>T (p.Ser2432Leu) c.6653C>T (p.Ser2218Leu) c.4163C>T (p.Ser1388Leu) | gnomAD v4 |
| 10 | g.71803056A>C | CA470062526 | CDH23 | c.7641A>C (p.Ser2547=) c.1574A>C (n.1574A>C) c.1238A>C (n.1238A>C) c.7656A>C (p.Ser2552=) c.921A>C (p.Ser307=) n.1177A>C c.7836A>C (p.Ser2612=) c.7770A>C (p.Ser2590=) c.7833A>C (p.Ser2611=) c.7830A>C (p.Ser2610=) c.7776A>C (p.Ser2592=) c.7746A>C (p.Ser2582=) c.7701A>C (p.Ser2567=) c.7296A>C (p.Ser2432=) c.6654A>C (p.Ser2218=) c.4164A>C (p.Ser1388=) | |
| 10 | g.71803056A>G | CA470062527 | CDH23 | c.7641A>G (p.Ser2547=) c.1574A>G (n.1574A>G) c.1238A>G (n.1238A>G) c.7656A>G (p.Ser2552=) c.921A>G (p.Ser307=) n.1177A>G c.7836A>G (p.Ser2612=) c.7770A>G (p.Ser2590=) c.7833A>G (p.Ser2611=) c.7830A>G (p.Ser2610=) c.7776A>G (p.Ser2592=) c.7746A>G (p.Ser2582=) c.7701A>G (p.Ser2567=) c.7296A>G (p.Ser2432=) c.6654A>G (p.Ser2218=) c.4164A>G (p.Ser1388=) | |
| 10 | g.71803056A>T | CA470062528 | CDH23 | c.7641A>T (p.Ser2547=) c.1574A>T (n.1574A>T) c.1238A>T (n.1238A>T) c.7656A>T (p.Ser2552=) c.921A>T (p.Ser307=) n.1177A>T c.7836A>T (p.Ser2612=) c.7770A>T (p.Ser2590=) c.7833A>T (p.Ser2611=) c.7830A>T (p.Ser2610=) c.7776A>T (p.Ser2592=) c.7746A>T (p.Ser2582=) c.7701A>T (p.Ser2567=) c.7296A>T (p.Ser2432=) c.6654A>T (p.Ser2218=) c.4164A>T (p.Ser1388=) | |
| 10 | g.71803056_71803059del | CA2609580412 | CDH23 | c.7641_7644del (p.Leu2548ArgfsTer17) c.1574_1577del (n.1574_1577del) c.1238_1241del (n.1238_1241del) c.7656_7659del (p.Leu2553ArgfsTer17) c.921_924del (p.Leu308ArgfsTer17) n.1177_1180del c.7836_7839del (p.Leu2613ArgfsTer17) c.7770_7773del (p.Leu2591ArgfsTer17) c.7833_7836del (p.Leu2612ArgfsTer17) c.7830_7833del (p.Leu2611ArgfsTer17) c.7776_7779del (p.Leu2593ArgfsTer17) c.7746_7749del (p.Leu2583ArgfsTer17) c.7701_7704del (p.Leu2568ArgfsTer17) c.7296_7299del (p.Leu2433ArgfsTer17) c.6654_6657del (p.Leu2219ArgfsTer17) c.4164_4167del (p.Leu1389ArgfsTer17) | gnomAD v4 |
| 10 | g.71803057C>A | CA5546394 | CDH23 | c.7642C>A (p.Leu2548Ile) c.1575C>A (n.1575C>A) c.1239C>A (n.1239C>A) c.7657C>A (p.Leu2553Ile) c.922C>A (p.Leu308Ile) n.1178C>A c.7837C>A (p.Leu2613Ile) c.7771C>A (p.Leu2591Ile) c.7834C>A (p.Leu2612Ile) c.7831C>A (p.Leu2611Ile) c.7777C>A (p.Leu2593Ile) c.7747C>A (p.Leu2583Ile) c.7702C>A (p.Leu2568Ile) c.7297C>A (p.Leu2433Ile) c.6655C>A (p.Leu2219Ile) c.4165C>A (p.Leu1389Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.71803057C= | CA1918880452 | CDH23 | c.7642C= (p.Leu2548=) c.1575C= (n.1575C=) c.1239C= (n.1239C=) c.7657C= (p.Leu2553=) c.922C= (p.Leu308=) n.1178C= c.7837C= (p.Leu2613=) c.7771C= (p.Leu2591=) c.7834C= (p.Leu2612=) c.7831C= (p.Leu2611=) c.7777C= (p.Leu2593=) c.7747C= (p.Leu2583=) c.7702C= (p.Leu2568=) c.7297C= (p.Leu2433=) c.6655C= (p.Leu2219=) c.4165C= (p.Leu1389=) | |
| 10 | g.71803057C>G | CA377160930 | CDH23 | c.7642C>G (p.Leu2548Val) c.1575C>G (n.1575C>G) c.1239C>G (n.1239C>G) c.7657C>G (p.Leu2553Val) c.922C>G (p.Leu308Val) n.1178C>G c.7837C>G (p.Leu2613Val) c.7771C>G (p.Leu2591Val) c.7834C>G (p.Leu2612Val) c.7831C>G (p.Leu2611Val) c.7777C>G (p.Leu2593Val) c.7747C>G (p.Leu2583Val) c.7702C>G (p.Leu2568Val) c.7297C>G (p.Leu2433Val) c.6655C>G (p.Leu2219Val) c.4165C>G (p.Leu1389Val) | |
| 10 | g.71803057C>T | CA377160931 | CDH23 | c.7642C>T (p.Leu2548Phe) c.1575C>T (n.1575C>T) c.1239C>T (n.1239C>T) c.7657C>T (p.Leu2553Phe) c.922C>T (p.Leu308Phe) n.1178C>T c.7837C>T (p.Leu2613Phe) c.7771C>T (p.Leu2591Phe) c.7834C>T (p.Leu2612Phe) c.7831C>T (p.Leu2611Phe) c.7777C>T (p.Leu2593Phe) c.7747C>T (p.Leu2583Phe) c.7702C>T (p.Leu2568Phe) c.7297C>T (p.Leu2433Phe) c.6655C>T (p.Leu2219Phe) c.4165C>T (p.Leu1389Phe) | gnomAD v4 |
| 10 | g.71803058T>A | CA377160935 | CDH23 | c.7643T>A (p.Leu2548His) c.1576T>A (n.1576T>A) c.1240T>A (n.1240T>A) c.7658T>A (p.Leu2553His) c.923T>A (p.Leu308His) n.1179T>A c.7838T>A (p.Leu2613His) c.7772T>A (p.Leu2591His) c.7835T>A (p.Leu2612His) c.7832T>A (p.Leu2611His) c.7778T>A (p.Leu2593His) c.7748T>A (p.Leu2583His) c.7703T>A (p.Leu2568His) c.7298T>A (p.Leu2433His) c.6656T>A (p.Leu2219His) c.4166T>A (p.Leu1389His) | |
| 10 | g.71803058T>C | CA377160937 | CDH23 | c.7643T>C (p.Leu2548Pro) c.1576T>C (n.1576T>C) c.1240T>C (n.1240T>C) c.7658T>C (p.Leu2553Pro) c.923T>C (p.Leu308Pro) n.1179T>C c.7838T>C (p.Leu2613Pro) c.7772T>C (p.Leu2591Pro) c.7835T>C (p.Leu2612Pro) c.7832T>C (p.Leu2611Pro) c.7778T>C (p.Leu2593Pro) c.7748T>C (p.Leu2583Pro) c.7703T>C (p.Leu2568Pro) c.7298T>C (p.Leu2433Pro) c.6656T>C (p.Leu2219Pro) c.4166T>C (p.Leu1389Pro) | dbSNP |