| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.71800640A>C | CA377159797 | CDH23 | c.7367A>C (p.Asp2456Ala) c.1300A>C (n.1300A>C) c.964A>C (n.964A>C) c.7382A>C (p.Asp2461Ala) c.647A>C (p.Asp216Ala) n.903A>C c.7562A>C (p.Asp2521Ala) c.7496A>C (p.Asp2499Ala) c.7559A>C (p.Asp2520Ala) c.7556A>C (p.Asp2519Ala) c.7502A>C (p.Asp2501Ala) c.7472A>C (p.Asp2491Ala) c.7427A>C (p.Asp2476Ala) c.7022A>C (p.Asp2341Ala) c.6380A>C (p.Asp2127Ala) c.3890A>C (p.Asp1297Ala) | |
| 10 | g.71800640A>G | CA377159798 | CDH23 | c.7367A>G (p.Asp2456Gly) c.1300A>G (n.1300A>G) c.964A>G (n.964A>G) c.7382A>G (p.Asp2461Gly) c.647A>G (p.Asp216Gly) n.903A>G c.7562A>G (p.Asp2521Gly) c.7496A>G (p.Asp2499Gly) c.7559A>G (p.Asp2520Gly) c.7556A>G (p.Asp2519Gly) c.7502A>G (p.Asp2501Gly) c.7472A>G (p.Asp2491Gly) c.7427A>G (p.Asp2476Gly) c.7022A>G (p.Asp2341Gly) c.6380A>G (p.Asp2127Gly) c.3890A>G (p.Asp1297Gly) | |
| 10 | g.71800640A>T | CA377159799 | CDH23 | c.7367A>T (p.Asp2456Val) c.1300A>T (n.1300A>T) c.964A>T (n.964A>T) c.7382A>T (p.Asp2461Val) c.647A>T (p.Asp216Val) n.903A>T c.7562A>T (p.Asp2521Val) c.7496A>T (p.Asp2499Val) c.7559A>T (p.Asp2520Val) c.7556A>T (p.Asp2519Val) c.7502A>T (p.Asp2501Val) c.7472A>T (p.Asp2491Val) c.7427A>T (p.Asp2476Val) c.7022A>T (p.Asp2341Val) c.6380A>T (p.Asp2127Val) c.3890A>T (p.Asp1297Val) | dbSNP |
| 10 | g.71800641C>A | CA209471030 | CDH23 | c.7368C>A (p.Asp2456Glu) c.1301C>A (n.1301C>A) c.965C>A (n.965C>A) c.7383C>A (p.Asp2461Glu) c.648C>A (p.Asp216Glu) n.904C>A c.7563C>A (p.Asp2521Glu) c.7497C>A (p.Asp2499Glu) c.7560C>A (p.Asp2520Glu) c.7557C>A (p.Asp2519Glu) c.7503C>A (p.Asp2501Glu) c.7473C>A (p.Asp2491Glu) c.7428C>A (p.Asp2476Glu) c.7023C>A (p.Asp2341Glu) c.6381C>A (p.Asp2127Glu) c.3891C>A (p.Asp1297Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.71800641C= | CA1918879383 | CDH23 | c.7368C= (p.Asp2456=) c.1301C= (n.1301C=) c.965C= (n.965C=) c.7383C= (p.Asp2461=) c.648C= (p.Asp216=) n.904C= c.7563C= (p.Asp2521=) c.7497C= (p.Asp2499=) c.7560C= (p.Asp2520=) c.7557C= (p.Asp2519=) c.7503C= (p.Asp2501=) c.7473C= (p.Asp2491=) c.7428C= (p.Asp2476=) c.7023C= (p.Asp2341=) c.6381C= (p.Asp2127=) c.3891C= (p.Asp1297=) | |
| 10 | g.71800641C>G | CA377159801 | CDH23 | c.7368C>G (p.Asp2456Glu) c.1301C>G (n.1301C>G) c.965C>G (n.965C>G) c.7383C>G (p.Asp2461Glu) c.648C>G (p.Asp216Glu) n.904C>G c.7563C>G (p.Asp2521Glu) c.7497C>G (p.Asp2499Glu) c.7560C>G (p.Asp2520Glu) c.7557C>G (p.Asp2519Glu) c.7503C>G (p.Asp2501Glu) c.7473C>G (p.Asp2491Glu) c.7428C>G (p.Asp2476Glu) c.7023C>G (p.Asp2341Glu) c.6381C>G (p.Asp2127Glu) c.3891C>G (p.Asp1297Glu) | |
| 10 | g.71800641C>T | CA470062234 | CDH23 | c.7368C>T (p.Asp2456=) c.1301C>T (n.1301C>T) c.965C>T (n.965C>T) c.7383C>T (p.Asp2461=) c.648C>T (p.Asp216=) n.904C>T c.7563C>T (p.Asp2521=) c.7497C>T (p.Asp2499=) c.7560C>T (p.Asp2520=) c.7557C>T (p.Asp2519=) c.7503C>T (p.Asp2501=) c.7473C>T (p.Asp2491=) c.7428C>T (p.Asp2476=) c.7023C>T (p.Asp2341=) c.6381C>T (p.Asp2127=) c.3891C>T (p.Asp1297=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 10 | g.71800642A>C | CA377159804 | CDH23 | c.7369A>C (p.Ile2457Leu) c.1302A>C (n.1302A>C) c.966A>C (n.966A>C) c.7384A>C (p.Ile2462Leu) c.649A>C (p.Ile217Leu) n.905A>C c.7564A>C (p.Ile2522Leu) c.7498A>C (p.Ile2500Leu) c.7561A>C (p.Ile2521Leu) c.7558A>C (p.Ile2520Leu) c.7504A>C (p.Ile2502Leu) c.7474A>C (p.Ile2492Leu) c.7429A>C (p.Ile2477Leu) c.7024A>C (p.Ile2342Leu) c.6382A>C (p.Ile2128Leu) c.3892A>C (p.Ile1298Leu) | |
| 10 | g.71800642A>G | CA377159807 | CDH23 | c.7369A>G (p.Ile2457Val) c.1302A>G (n.1302A>G) c.966A>G (n.966A>G) c.7384A>G (p.Ile2462Val) c.649A>G (p.Ile217Val) n.905A>G c.7564A>G (p.Ile2522Val) c.7498A>G (p.Ile2500Val) c.7561A>G (p.Ile2521Val) c.7558A>G (p.Ile2520Val) c.7504A>G (p.Ile2502Val) c.7474A>G (p.Ile2492Val) c.7429A>G (p.Ile2477Val) c.7024A>G (p.Ile2342Val) c.6382A>G (p.Ile2128Val) c.3892A>G (p.Ile1298Val) | |
| 10 | g.71800642A>T | CA377159806 | CDH23 | c.7369A>T (p.Ile2457Phe) c.1302A>T (n.1302A>T) c.966A>T (n.966A>T) c.7384A>T (p.Ile2462Phe) c.649A>T (p.Ile217Phe) n.905A>T c.7564A>T (p.Ile2522Phe) c.7498A>T (p.Ile2500Phe) c.7561A>T (p.Ile2521Phe) c.7558A>T (p.Ile2520Phe) c.7504A>T (p.Ile2502Phe) c.7474A>T (p.Ile2492Phe) c.7429A>T (p.Ile2477Phe) c.7024A>T (p.Ile2342Phe) c.6382A>T (p.Ile2128Phe) c.3892A>T (p.Ile1298Phe) | |
| 10 | g.71800643T>A | CA377159809 | CDH23 | c.7370T>A (p.Ile2457Asn) c.1303T>A (n.1303T>A) c.967T>A (n.967T>A) c.7385T>A (p.Ile2462Asn) c.650T>A (p.Ile217Asn) n.906T>A c.7565T>A (p.Ile2522Asn) c.7499T>A (p.Ile2500Asn) c.7562T>A (p.Ile2521Asn) c.7559T>A (p.Ile2520Asn) c.7505T>A (p.Ile2502Asn) c.7475T>A (p.Ile2492Asn) c.7430T>A (p.Ile2477Asn) c.7025T>A (p.Ile2342Asn) c.6383T>A (p.Ile2128Asn) c.3893T>A (p.Ile1298Asn) | gnomAD v4 |
| 10 | g.71800643T>C | CA377159813 | CDH23 | c.7370T>C (p.Ile2457Thr) c.1303T>C (n.1303T>C) c.967T>C (n.967T>C) c.7385T>C (p.Ile2462Thr) c.650T>C (p.Ile217Thr) n.906T>C c.7565T>C (p.Ile2522Thr) c.7499T>C (p.Ile2500Thr) c.7562T>C (p.Ile2521Thr) c.7559T>C (p.Ile2520Thr) c.7505T>C (p.Ile2502Thr) c.7475T>C (p.Ile2492Thr) c.7430T>C (p.Ile2477Thr) c.7025T>C (p.Ile2342Thr) c.6383T>C (p.Ile2128Thr) c.3893T>C (p.Ile1298Thr) | gnomAD v4 |
| 10 | g.71800643T>G | CA377159811 | CDH23 | c.7370T>G (p.Ile2457Ser) c.1303T>G (n.1303T>G) c.967T>G (n.967T>G) c.7385T>G (p.Ile2462Ser) c.650T>G (p.Ile217Ser) n.906T>G c.7565T>G (p.Ile2522Ser) c.7499T>G (p.Ile2500Ser) c.7562T>G (p.Ile2521Ser) c.7559T>G (p.Ile2520Ser) c.7505T>G (p.Ile2502Ser) c.7475T>G (p.Ile2492Ser) c.7430T>G (p.Ile2477Ser) c.7025T>G (p.Ile2342Ser) c.6383T>G (p.Ile2128Ser) c.3893T>G (p.Ile1298Ser) | |
| 10 | g.71800644C>A | CA470062236 | CDH23 | c.7371C>A (p.Ile2457=) c.1304C>A (n.1304C>A) c.968C>A (n.968C>A) c.7386C>A (p.Ile2462=) c.651C>A (p.Ile217=) n.907C>A c.7566C>A (p.Ile2522=) c.7500C>A (p.Ile2500=) c.7563C>A (p.Ile2521=) c.7560C>A (p.Ile2520=) c.7506C>A (p.Ile2502=) c.7476C>A (p.Ile2492=) c.7431C>A (p.Ile2477=) c.7026C>A (p.Ile2342=) c.6384C>A (p.Ile2128=) c.3894C>A (p.Ile1298=) | ClinVar |
| 10 | g.71800644C>G | CA377159815 | CDH23 | c.7371C>G (p.Ile2457Met) c.1304C>G (n.1304C>G) c.968C>G (n.968C>G) c.7386C>G (p.Ile2462Met) c.651C>G (p.Ile217Met) n.907C>G c.7566C>G (p.Ile2522Met) c.7500C>G (p.Ile2500Met) c.7563C>G (p.Ile2521Met) c.7560C>G (p.Ile2520Met) c.7506C>G (p.Ile2502Met) c.7476C>G (p.Ile2492Met) c.7431C>G (p.Ile2477Met) c.7026C>G (p.Ile2342Met) c.6384C>G (p.Ile2128Met) c.3894C>G (p.Ile1298Met) | |
| 10 | g.71800644C>T | CA470062235 | CDH23 | c.7371C>T (p.Ile2457=) c.1304C>T (n.1304C>T) c.968C>T (n.968C>T) c.7386C>T (p.Ile2462=) c.651C>T (p.Ile217=) n.907C>T c.7566C>T (p.Ile2522=) c.7500C>T (p.Ile2500=) c.7563C>T (p.Ile2521=) c.7560C>T (p.Ile2520=) c.7506C>T (p.Ile2502=) c.7476C>T (p.Ile2492=) c.7431C>T (p.Ile2477=) c.7026C>T (p.Ile2342=) c.6384C>T (p.Ile2128=) c.3894C>T (p.Ile1298=) | ClinVar |
| 10 | g.71800645T>A | CA377159819 | CDH23 | c.7372T>A (p.Tyr2458Asn) c.1305T>A (n.1305T>A) c.969T>A (n.969T>A) c.7387T>A (p.Tyr2463Asn) c.652T>A (p.Tyr218Asn) n.908T>A c.7567T>A (p.Tyr2523Asn) c.7501T>A (p.Tyr2501Asn) c.7564T>A (p.Tyr2522Asn) c.7561T>A (p.Tyr2521Asn) c.7507T>A (p.Tyr2503Asn) c.7477T>A (p.Tyr2493Asn) c.7432T>A (p.Tyr2478Asn) c.7027T>A (p.Tyr2343Asn) c.6385T>A (p.Tyr2129Asn) c.3895T>A (p.Tyr1299Asn) | |
| 10 | g.71800645T>C | CA5546330 | CDH23 | c.7372T>C (p.Tyr2458His) c.1305T>C (n.1305T>C) c.969T>C (n.969T>C) c.7387T>C (p.Tyr2463His) c.652T>C (p.Tyr218His) n.908T>C c.7567T>C (p.Tyr2523His) c.7501T>C (p.Tyr2501His) c.7564T>C (p.Tyr2522His) c.7561T>C (p.Tyr2521His) c.7507T>C (p.Tyr2503His) c.7477T>C (p.Tyr2493His) c.7432T>C (p.Tyr2478His) c.7027T>C (p.Tyr2343His) c.6385T>C (p.Tyr2129His) c.3895T>C (p.Tyr1299His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.71800645T>G | CA377159818 | CDH23 | c.7372T>G (p.Tyr2458Asp) c.1305T>G (n.1305T>G) c.969T>G (n.969T>G) c.7387T>G (p.Tyr2463Asp) c.652T>G (p.Tyr218Asp) n.908T>G c.7567T>G (p.Tyr2523Asp) c.7501T>G (p.Tyr2501Asp) c.7564T>G (p.Tyr2522Asp) c.7561T>G (p.Tyr2521Asp) c.7507T>G (p.Tyr2503Asp) c.7477T>G (p.Tyr2493Asp) c.7432T>G (p.Tyr2478Asp) c.7027T>G (p.Tyr2343Asp) c.6385T>G (p.Tyr2129Asp) c.3895T>G (p.Tyr1299Asp) | |
| 10 | g.71800645T= | CA1918879384 | CDH23 | c.7372T= (p.Tyr2458=) c.1305T= (n.1305T=) c.969T= (n.969T=) c.7387T= (p.Tyr2463=) c.652T= (p.Tyr218=) n.908T= c.7567T= (p.Tyr2523=) c.7501T= (p.Tyr2501=) c.7564T= (p.Tyr2522=) c.7561T= (p.Tyr2521=) c.7507T= (p.Tyr2503=) c.7477T= (p.Tyr2493=) c.7432T= (p.Tyr2478=) c.7027T= (p.Tyr2343=) c.6385T= (p.Tyr2129=) c.3895T= (p.Tyr1299=) | |
| 10 | g.71800646A= | CA1918879385 | CDH23 | c.7373A= (p.Tyr2458=) c.1306A= (n.1306A=) c.970A= (n.970A=) c.7388A= (p.Tyr2463=) c.653A= (p.Tyr218=) n.909A= c.7568A= (p.Tyr2523=) c.7502A= (p.Tyr2501=) c.7565A= (p.Tyr2522=) c.7562A= (p.Tyr2521=) c.7508A= (p.Tyr2503=) c.7478A= (p.Tyr2493=) c.7433A= (p.Tyr2478=) c.7028A= (p.Tyr2343=) c.6386A= (p.Tyr2129=) c.3896A= (p.Tyr1299=) | |
| 10 | g.71800646A>C | CA377159821 | CDH23 | c.7373A>C (p.Tyr2458Ser) c.1306A>C (n.1306A>C) c.970A>C (n.970A>C) c.7388A>C (p.Tyr2463Ser) c.653A>C (p.Tyr218Ser) n.909A>C c.7568A>C (p.Tyr2523Ser) c.7502A>C (p.Tyr2501Ser) c.7565A>C (p.Tyr2522Ser) c.7562A>C (p.Tyr2521Ser) c.7508A>C (p.Tyr2503Ser) c.7478A>C (p.Tyr2493Ser) c.7433A>C (p.Tyr2478Ser) c.7028A>C (p.Tyr2343Ser) c.6386A>C (p.Tyr2129Ser) c.3896A>C (p.Tyr1299Ser) | |
| 10 | g.71800646A>G | CA377159823 | CDH23 | c.7373A>G (p.Tyr2458Cys) c.1306A>G (n.1306A>G) c.970A>G (n.970A>G) c.7388A>G (p.Tyr2463Cys) c.653A>G (p.Tyr218Cys) n.909A>G c.7568A>G (p.Tyr2523Cys) c.7502A>G (p.Tyr2501Cys) c.7565A>G (p.Tyr2522Cys) c.7562A>G (p.Tyr2521Cys) c.7508A>G (p.Tyr2503Cys) c.7478A>G (p.Tyr2493Cys) c.7433A>G (p.Tyr2478Cys) c.7028A>G (p.Tyr2343Cys) c.6386A>G (p.Tyr2129Cys) c.3896A>G (p.Tyr1299Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.71800646A>T | CA377159825 | CDH23 | c.7373A>T (p.Tyr2458Phe) c.1306A>T (n.1306A>T) c.970A>T (n.970A>T) c.7388A>T (p.Tyr2463Phe) c.653A>T (p.Tyr218Phe) n.909A>T c.7568A>T (p.Tyr2523Phe) c.7502A>T (p.Tyr2501Phe) c.7565A>T (p.Tyr2522Phe) c.7562A>T (p.Tyr2521Phe) c.7508A>T (p.Tyr2503Phe) c.7478A>T (p.Tyr2493Phe) c.7433A>T (p.Tyr2478Phe) c.7028A>T (p.Tyr2343Phe) c.6386A>T (p.Tyr2129Phe) c.3896A>T (p.Tyr1299Phe) | |
| 10 | g.71800647T>A | CA377159827 | CDH23 | c.7374T>A (p.Tyr2458Ter) c.1307T>A (n.1307T>A) c.971T>A (n.971T>A) c.7389T>A (p.Tyr2463Ter) c.654T>A (p.Tyr218Ter) n.910T>A c.7569T>A (p.Tyr2523Ter) c.7503T>A (p.Tyr2501Ter) c.7566T>A (p.Tyr2522Ter) c.7563T>A (p.Tyr2521Ter) c.7509T>A (p.Tyr2503Ter) c.7479T>A (p.Tyr2493Ter) c.7434T>A (p.Tyr2478Ter) c.7029T>A (p.Tyr2343Ter) c.6387T>A (p.Tyr2129Ter) c.3897T>A (p.Tyr1299Ter) | |
| 10 | g.71800647T>C | CA470062237 | CDH23 | c.7374T>C (p.Tyr2458=) c.1307T>C (n.1307T>C) c.971T>C (n.971T>C) c.7389T>C (p.Tyr2463=) c.654T>C (p.Tyr218=) n.910T>C c.7569T>C (p.Tyr2523=) c.7503T>C (p.Tyr2501=) c.7566T>C (p.Tyr2522=) c.7563T>C (p.Tyr2521=) c.7509T>C (p.Tyr2503=) c.7479T>C (p.Tyr2493=) c.7434T>C (p.Tyr2478=) c.7029T>C (p.Tyr2343=) c.6387T>C (p.Tyr2129=) c.3897T>C (p.Tyr1299=) | |
| 10 | g.71800647T>G | CA377159829 | CDH23 | c.7374T>G (p.Tyr2458Ter) c.1307T>G (n.1307T>G) c.971T>G (n.971T>G) c.7389T>G (p.Tyr2463Ter) c.654T>G (p.Tyr218Ter) n.910T>G c.7569T>G (p.Tyr2523Ter) c.7503T>G (p.Tyr2501Ter) c.7566T>G (p.Tyr2522Ter) c.7563T>G (p.Tyr2521Ter) c.7509T>G (p.Tyr2503Ter) c.7479T>G (p.Tyr2493Ter) c.7434T>G (p.Tyr2478Ter) c.7029T>G (p.Tyr2343Ter) c.6387T>G (p.Tyr2129Ter) c.3897T>G (p.Tyr1299Ter) | gnomAD v4 |
| 10 | g.71800648G>A | CA209471042 | CDH23 | c.7375G>A (p.Val2459Met) c.1308G>A (n.1308G>A) c.972G>A (n.972G>A) c.7390G>A (p.Val2464Met) c.655G>A (p.Val219Met) n.911G>A c.7570G>A (p.Val2524Met) c.7504G>A (p.Val2502Met) c.7567G>A (p.Val2523Met) c.7564G>A (p.Val2522Met) c.7510G>A (p.Val2504Met) c.7480G>A (p.Val2494Met) c.7435G>A (p.Val2479Met) c.7030G>A (p.Val2344Met) c.6388G>A (p.Val2130Met) c.3898G>A (p.Val1300Met) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.71800648G>C | CA377159831 | CDH23 | c.7375G>C (p.Val2459Leu) c.1308G>C (n.1308G>C) c.972G>C (n.972G>C) c.7390G>C (p.Val2464Leu) c.655G>C (p.Val219Leu) n.911G>C c.7570G>C (p.Val2524Leu) c.7504G>C (p.Val2502Leu) c.7567G>C (p.Val2523Leu) c.7564G>C (p.Val2522Leu) c.7510G>C (p.Val2504Leu) c.7480G>C (p.Val2494Leu) c.7435G>C (p.Val2479Leu) c.7030G>C (p.Val2344Leu) c.6388G>C (p.Val2130Leu) c.3898G>C (p.Val1300Leu) | |
| 10 | g.71800648G= | CA1918879386 | CDH23 | c.7375G= (p.Val2459=) c.1308G= (n.1308G=) c.972G= (n.972G=) c.7390G= (p.Val2464=) c.655G= (p.Val219=) n.911G= c.7570G= (p.Val2524=) c.7504G= (p.Val2502=) c.7567G= (p.Val2523=) c.7564G= (p.Val2522=) c.7510G= (p.Val2504=) c.7480G= (p.Val2494=) c.7435G= (p.Val2479=) c.7030G= (p.Val2344=) c.6388G= (p.Val2130=) c.3898G= (p.Val1300=) | |
| 10 | g.71800648G>T | CA377159832 | CDH23 | c.7375G>T (p.Val2459Leu) c.1308G>T (n.1308G>T) c.972G>T (n.972G>T) c.7390G>T (p.Val2464Leu) c.655G>T (p.Val219Leu) n.911G>T c.7570G>T (p.Val2524Leu) c.7504G>T (p.Val2502Leu) c.7567G>T (p.Val2523Leu) c.7564G>T (p.Val2522Leu) c.7510G>T (p.Val2504Leu) c.7480G>T (p.Val2494Leu) c.7435G>T (p.Val2479Leu) c.7030G>T (p.Val2344Leu) c.6388G>T (p.Val2130Leu) c.3898G>T (p.Val1300Leu) | |
| 10 | g.71800649T>A | CA377159834 | CDH23 | c.7376T>A (p.Val2459Glu) c.1309T>A (n.1309T>A) c.973T>A (n.973T>A) c.7391T>A (p.Val2464Glu) c.656T>A (p.Val219Glu) n.912T>A c.7571T>A (p.Val2524Glu) c.7505T>A (p.Val2502Glu) c.7568T>A (p.Val2523Glu) c.7565T>A (p.Val2522Glu) c.7511T>A (p.Val2504Glu) c.7481T>A (p.Val2494Glu) c.7436T>A (p.Val2479Glu) c.7031T>A (p.Val2344Glu) c.6389T>A (p.Val2130Glu) c.3899T>A (p.Val1300Glu) | |
| 10 | g.71800649T>C | CA209471044 | CDH23 | c.7376T>C (p.Val2459Ala) c.1309T>C (n.1309T>C) c.973T>C (n.973T>C) c.7391T>C (p.Val2464Ala) c.656T>C (p.Val219Ala) n.912T>C c.7571T>C (p.Val2524Ala) c.7505T>C (p.Val2502Ala) c.7568T>C (p.Val2523Ala) c.7565T>C (p.Val2522Ala) c.7511T>C (p.Val2504Ala) c.7481T>C (p.Val2494Ala) c.7436T>C (p.Val2479Ala) c.7031T>C (p.Val2344Ala) c.6389T>C (p.Val2130Ala) c.3899T>C (p.Val1300Ala) | dbSNP gnomAD v4 |
| 10 | g.71800649T>G | CA377159833 | CDH23 | c.7376T>G (p.Val2459Gly) c.1309T>G (n.1309T>G) c.973T>G (n.973T>G) c.7391T>G (p.Val2464Gly) c.656T>G (p.Val219Gly) n.912T>G c.7571T>G (p.Val2524Gly) c.7505T>G (p.Val2502Gly) c.7568T>G (p.Val2523Gly) c.7565T>G (p.Val2522Gly) c.7511T>G (p.Val2504Gly) c.7481T>G (p.Val2494Gly) c.7436T>G (p.Val2479Gly) c.7031T>G (p.Val2344Gly) c.6389T>G (p.Val2130Gly) c.3899T>G (p.Val1300Gly) | gnomAD v4 |
| 10 | g.71800649T= | CA1918879387 | CDH23 | c.7376T= (p.Val2459=) c.1309T= (n.1309T=) c.973T= (n.973T=) c.7391T= (p.Val2464=) c.656T= (p.Val219=) n.912T= c.7571T= (p.Val2524=) c.7505T= (p.Val2502=) c.7568T= (p.Val2523=) c.7565T= (p.Val2522=) c.7511T= (p.Val2504=) c.7481T= (p.Val2494=) c.7436T= (p.Val2479=) c.7031T= (p.Val2344=) c.6389T= (p.Val2130=) c.3899T= (p.Val1300=) | |
| 10 | g.71800650G>A | CA470062238 | CDH23 | c.7377G>A (p.Val2459=) c.1310G>A (n.1310G>A) c.974G>A (n.974G>A) c.7392G>A (p.Val2464=) c.657G>A (p.Val219=) n.913G>A c.7572G>A (p.Val2524=) c.7506G>A (p.Val2502=) c.7569G>A (p.Val2523=) c.7566G>A (p.Val2522=) c.7512G>A (p.Val2504=) c.7482G>A (p.Val2494=) c.7437G>A (p.Val2479=) c.7032G>A (p.Val2344=) c.6390G>A (p.Val2130=) c.3900G>A (p.Val1300=) | dbSNP |
| 10 | g.71800650G>C | CA470062240 | CDH23 | c.7377G>C (p.Val2459=) c.1310G>C (n.1310G>C) c.974G>C (n.974G>C) c.7392G>C (p.Val2464=) c.657G>C (p.Val219=) n.913G>C c.7572G>C (p.Val2524=) c.7506G>C (p.Val2502=) c.7569G>C (p.Val2523=) c.7566G>C (p.Val2522=) c.7512G>C (p.Val2504=) c.7482G>C (p.Val2494=) c.7437G>C (p.Val2479=) c.7032G>C (p.Val2344=) c.6390G>C (p.Val2130=) c.3900G>C (p.Val1300=) | |
| 10 | g.71800650G= | CA1918879388 | CDH23 | c.7377G= (p.Val2459=) c.1310G= (n.1310G=) c.974G= (n.974G=) c.7392G= (p.Val2464=) c.657G= (p.Val219=) n.913G= c.7572G= (p.Val2524=) c.7506G= (p.Val2502=) c.7569G= (p.Val2523=) c.7566G= (p.Val2522=) c.7512G= (p.Val2504=) c.7482G= (p.Val2494=) c.7437G= (p.Val2479=) c.7032G= (p.Val2344=) c.6390G= (p.Val2130=) c.3900G= (p.Val1300=) | |
| 10 | g.71800650G>T | CA470062239 | CDH23 | c.7377G>T (p.Val2459=) c.1310G>T (n.1310G>T) c.974G>T (n.974G>T) c.7392G>T (p.Val2464=) c.657G>T (p.Val219=) n.913G>T c.7572G>T (p.Val2524=) c.7506G>T (p.Val2502=) c.7569G>T (p.Val2523=) c.7566G>T (p.Val2522=) c.7512G>T (p.Val2504=) c.7482G>T (p.Val2494=) c.7437G>T (p.Val2479=) c.7032G>T (p.Val2344=) c.6390G>T (p.Val2130=) c.3900G>T (p.Val1300=) | ClinVar dbSNP |
| 10 | g.71800651C>A | CA377159835 | CDH23 | c.7378C>A (p.Leu2460Met) c.1311C>A (n.1311C>A) c.975C>A (n.975C>A) c.7393C>A (p.Leu2465Met) c.658C>A (p.Leu220Met) n.914C>A c.7573C>A (p.Leu2525Met) c.7507C>A (p.Leu2503Met) c.7570C>A (p.Leu2524Met) c.7567C>A (p.Leu2523Met) c.7513C>A (p.Leu2505Met) c.7483C>A (p.Leu2495Met) c.7438C>A (p.Leu2480Met) c.7033C>A (p.Leu2345Met) c.6391C>A (p.Leu2131Met) c.3901C>A (p.Leu1301Met) | |
| 10 | g.71800651C>G | CA377159836 | CDH23 | c.7378C>G (p.Leu2460Val) c.1311C>G (n.1311C>G) c.975C>G (n.975C>G) c.7393C>G (p.Leu2465Val) c.658C>G (p.Leu220Val) n.914C>G c.7573C>G (p.Leu2525Val) c.7507C>G (p.Leu2503Val) c.7570C>G (p.Leu2524Val) c.7567C>G (p.Leu2523Val) c.7513C>G (p.Leu2505Val) c.7483C>G (p.Leu2495Val) c.7438C>G (p.Leu2480Val) c.7033C>G (p.Leu2345Val) c.6391C>G (p.Leu2131Val) c.3901C>G (p.Leu1301Val) | |
| 10 | g.71800651C>T | CA470062241 | CDH23 | c.7378C>T (p.Leu2460=) c.1311C>T (n.1311C>T) c.975C>T (n.975C>T) c.7393C>T (p.Leu2465=) c.658C>T (p.Leu220=) n.914C>T c.7573C>T (p.Leu2525=) c.7507C>T (p.Leu2503=) c.7570C>T (p.Leu2524=) c.7567C>T (p.Leu2523=) c.7513C>T (p.Leu2505=) c.7483C>T (p.Leu2495=) c.7438C>T (p.Leu2480=) c.7033C>T (p.Leu2345=) c.6391C>T (p.Leu2131=) c.3901C>T (p.Leu1301=) | |
| 10 | g.71800652T>A | CA377159837 | CDH23 | c.7379T>A (p.Leu2460Gln) c.1312T>A (n.1312T>A) c.976T>A (n.976T>A) c.7394T>A (p.Leu2465Gln) c.659T>A (p.Leu220Gln) n.915T>A c.7574T>A (p.Leu2525Gln) c.7508T>A (p.Leu2503Gln) c.7571T>A (p.Leu2524Gln) c.7568T>A (p.Leu2523Gln) c.7514T>A (p.Leu2505Gln) c.7484T>A (p.Leu2495Gln) c.7439T>A (p.Leu2480Gln) c.7034T>A (p.Leu2345Gln) c.6392T>A (p.Leu2131Gln) c.3902T>A (p.Leu1301Gln) | |
| 10 | g.71800652T>C | CA377159838 | CDH23 | c.7379T>C (p.Leu2460Pro) c.1312T>C (n.1312T>C) c.976T>C (n.976T>C) c.7394T>C (p.Leu2465Pro) c.659T>C (p.Leu220Pro) n.915T>C c.7574T>C (p.Leu2525Pro) c.7508T>C (p.Leu2503Pro) c.7571T>C (p.Leu2524Pro) c.7568T>C (p.Leu2523Pro) c.7514T>C (p.Leu2505Pro) c.7484T>C (p.Leu2495Pro) c.7439T>C (p.Leu2480Pro) c.7034T>C (p.Leu2345Pro) c.6392T>C (p.Leu2131Pro) c.3902T>C (p.Leu1301Pro) | gnomAD v4 |
| 10 | g.71800652T>G | CA377159839 | CDH23 | c.7379T>G (p.Leu2460Arg) c.1312T>G (n.1312T>G) c.976T>G (n.976T>G) c.7394T>G (p.Leu2465Arg) c.659T>G (p.Leu220Arg) n.915T>G c.7574T>G (p.Leu2525Arg) c.7508T>G (p.Leu2503Arg) c.7571T>G (p.Leu2524Arg) c.7568T>G (p.Leu2523Arg) c.7514T>G (p.Leu2505Arg) c.7484T>G (p.Leu2495Arg) c.7439T>G (p.Leu2480Arg) c.7034T>G (p.Leu2345Arg) c.6392T>G (p.Leu2131Arg) c.3902T>G (p.Leu1301Arg) | ClinVar dbSNP |
| 10 | g.71800652T= | CA1918879389 | CDH23 | c.7379T= (p.Leu2460=) c.1312T= (n.1312T=) c.976T= (n.976T=) c.7394T= (p.Leu2465=) c.659T= (p.Leu220=) n.915T= c.7574T= (p.Leu2525=) c.7508T= (p.Leu2503=) c.7571T= (p.Leu2524=) c.7568T= (p.Leu2523=) c.7514T= (p.Leu2505=) c.7484T= (p.Leu2495=) c.7439T= (p.Leu2480=) c.7034T= (p.Leu2345=) c.6392T= (p.Leu2131=) c.3902T= (p.Leu1301=) | |
| 10 | g.71800653G>A | CA470062242 | CDH23 | c.7380G>A (p.Leu2460=) c.1313G>A (n.1313G>A) c.977G>A (n.977G>A) c.7395G>A (p.Leu2465=) c.660G>A (p.Leu220=) n.916G>A c.7575G>A (p.Leu2525=) c.7509G>A (p.Leu2503=) c.7572G>A (p.Leu2524=) c.7569G>A (p.Leu2523=) c.7515G>A (p.Leu2505=) c.7485G>A (p.Leu2495=) c.7440G>A (p.Leu2480=) c.7035G>A (p.Leu2345=) c.6393G>A (p.Leu2131=) c.3903G>A (p.Leu1301=) | |
| 10 | g.71800653G>C | CA470062243 | CDH23 | c.7380G>C (p.Leu2460=) c.1313G>C (n.1313G>C) c.977G>C (n.977G>C) c.7395G>C (p.Leu2465=) c.660G>C (p.Leu220=) n.916G>C c.7575G>C (p.Leu2525=) c.7509G>C (p.Leu2503=) c.7572G>C (p.Leu2524=) c.7569G>C (p.Leu2523=) c.7515G>C (p.Leu2505=) c.7485G>C (p.Leu2495=) c.7440G>C (p.Leu2480=) c.7035G>C (p.Leu2345=) c.6393G>C (p.Leu2131=) c.3903G>C (p.Leu1301=) | ClinVar dbSNP |
| 10 | g.71800653G>T | CA470062244 | CDH23 | c.7380G>T (p.Leu2460=) c.1313G>T (n.1313G>T) c.977G>T (n.977G>T) c.7395G>T (p.Leu2465=) c.660G>T (p.Leu220=) n.916G>T c.7575G>T (p.Leu2525=) c.7509G>T (p.Leu2503=) c.7572G>T (p.Leu2524=) c.7569G>T (p.Leu2523=) c.7515G>T (p.Leu2505=) c.7485G>T (p.Leu2495=) c.7440G>T (p.Leu2480=) c.7035G>T (p.Leu2345=) c.6393G>T (p.Leu2131=) c.3903G>T (p.Leu1301=) | |
| 10 | g.71800654T>A | CA377159840 | CDH23 | c.7381T>A (p.Ser2461Thr) c.1314T>A (n.1314T>A) c.978T>A (n.978T>A) c.7396T>A (p.Ser2466Thr) c.661T>A (p.Ser221Thr) n.917T>A c.7576T>A (p.Ser2526Thr) c.7510T>A (p.Ser2504Thr) c.7573T>A (p.Ser2525Thr) c.7570T>A (p.Ser2524Thr) c.7516T>A (p.Ser2506Thr) c.7486T>A (p.Ser2496Thr) c.7441T>A (p.Ser2481Thr) c.7036T>A (p.Ser2346Thr) c.6394T>A (p.Ser2132Thr) c.3904T>A (p.Ser1302Thr) |