Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.71800641C>ACA209471030CDH23c.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
10g.71800641C=CA1918879383CDH23c.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=)
10g.71800641C>GCA377159801CDH23c.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)
10g.71800641C>TCA470062234CDH23c.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
10g.71800642A>CCA377159804CDH23c.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)
10g.71800642A>GCA377159807CDH23c.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)
10g.71800642A>TCA377159806CDH23c.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)
10g.71800643T>ACA377159809CDH23c.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
10g.71800643T>CCA377159813CDH23c.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
10g.71800643T>GCA377159811CDH23c.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)
10g.71800644C>ACA470062236CDH23c.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
10g.71800644C>GCA377159815CDH23c.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)
10g.71800644C>TCA470062235CDH23c.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
10g.71800645T>ACA377159819CDH23c.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)
10g.71800645T>CCA5546330CDH23c.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
10g.71800645T>GCA377159818CDH23c.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)
10g.71800645T=CA1918879384CDH23c.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=)
10g.71800646A=CA1918879385CDH23c.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=)
10g.71800646A>CCA377159821CDH23c.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)
10g.71800646A>GCA377159823CDH23c.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
10g.71800646A>TCA377159825CDH23c.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)
10g.71800647T>ACA377159827CDH23c.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)
10g.71800647T>CCA470062237CDH23c.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=)
10g.71800647T>GCA377159829CDH23c.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
10g.71800648G>ACA209471042CDH23c.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
10g.71800648G>CCA377159831CDH23c.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)
10g.71800648G=CA1918879386CDH23c.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=)
10g.71800648G>TCA377159832CDH23c.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)
10g.71800649T>ACA377159834CDH23c.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)
10g.71800649T>CCA209471044CDH23c.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
10g.71800649T>GCA377159833CDH23c.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
10g.71800649T=CA1918879387CDH23c.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=)
10g.71800650G>ACA470062238CDH23c.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
10g.71800650G>CCA470062240CDH23c.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=)
10g.71800650G=CA1918879388CDH23c.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=)
10g.71800650G>TCA470062239CDH23c.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
10g.71800651C>ACA377159835CDH23c.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)
10g.71800651C>GCA377159836CDH23c.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)
10g.71800651C>TCA470062241CDH23c.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=)
10g.71800652T>ACA377159837CDH23c.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)
10g.71800652T>CCA377159838CDH23c.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
10g.71800652T>GCA377159839CDH23c.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
10g.71800652T=CA1918879389CDH23c.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=)
10g.71800653G>ACA470062242CDH23c.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=)
10g.71800653G>CCA470062243CDH23c.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
10g.71800653G>TCA470062244CDH23c.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=)
10g.71800654T>ACA377159840CDH23c.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)
10g.71800654T>CCA377159841CDH23c.7381T>C (p.Ser2461Pro)
c.1314T>C (n.1314T>C)
c.978T>C (n.978T>C)
c.7396T>C (p.Ser2466Pro)
c.661T>C (p.Ser221Pro)
n.917T>C
c.7576T>C (p.Ser2526Pro)
c.7510T>C (p.Ser2504Pro)
c.7573T>C (p.Ser2525Pro)
c.7570T>C (p.Ser2524Pro)
c.7516T>C (p.Ser2506Pro)
c.7486T>C (p.Ser2496Pro)
c.7441T>C (p.Ser2481Pro)
c.7036T>C (p.Ser2346Pro)
c.6394T>C (p.Ser2132Pro)
c.3904T>C (p.Ser1302Pro)
10g.71800654T>GCA377159842CDH23c.7381T>G (p.Ser2461Ala)
c.1314T>G (n.1314T>G)
c.978T>G (n.978T>G)
c.7396T>G (p.Ser2466Ala)
c.661T>G (p.Ser221Ala)
n.917T>G
c.7576T>G (p.Ser2526Ala)
c.7510T>G (p.Ser2504Ala)
c.7573T>G (p.Ser2525Ala)
c.7570T>G (p.Ser2524Ala)
c.7516T>G (p.Ser2506Ala)
c.7486T>G (p.Ser2496Ala)
c.7441T>G (p.Ser2481Ala)
c.7036T>G (p.Ser2346Ala)
c.6394T>G (p.Ser2132Ala)
c.3904T>G (p.Ser1302Ala)
10g.71800655C>ACA377159843CDH23c.7382C>A (p.Ser2461Tyr)
c.1315C>A (n.1315C>A)
c.979C>A (n.979C>A)
c.7397C>A (p.Ser2466Tyr)
c.662C>A (p.Ser221Tyr)
n.918C>A
c.7577C>A (p.Ser2526Tyr)
c.7511C>A (p.Ser2504Tyr)
c.7574C>A (p.Ser2525Tyr)
c.7571C>A (p.Ser2524Tyr)
c.7517C>A (p.Ser2506Tyr)
c.7487C>A (p.Ser2496Tyr)
c.7442C>A (p.Ser2481Tyr)
c.7037C>A (p.Ser2346Tyr)
c.6395C>A (p.Ser2132Tyr)
c.3905C>A (p.Ser1302Tyr)
 dbSNP gnomAD v2 gnomAD v4
10g.71800655C=CA1918879390CDH23c.7382C= (p.Ser2461=)
c.1315C= (n.1315C=)
c.979C= (n.979C=)
c.7397C= (p.Ser2466=)
c.662C= (p.Ser221=)
n.918C=
c.7577C= (p.Ser2526=)
c.7511C= (p.Ser2504=)
c.7574C= (p.Ser2525=)
c.7571C= (p.Ser2524=)
c.7517C= (p.Ser2506=)
c.7487C= (p.Ser2496=)
c.7442C= (p.Ser2481=)
c.7037C= (p.Ser2346=)
c.6395C= (p.Ser2132=)
c.3905C= (p.Ser1302=)
10g.71800655C>GCA5546332CDH23c.7382C>G (p.Ser2461Cys)
c.1315C>G (n.1315C>G)
c.979C>G (n.979C>G)
c.7397C>G (p.Ser2466Cys)
c.662C>G (p.Ser221Cys)
n.918C>G
c.7577C>G (p.Ser2526Cys)
c.7511C>G (p.Ser2504Cys)
c.7574C>G (p.Ser2525Cys)
c.7571C>G (p.Ser2524Cys)
c.7517C>G (p.Ser2506Cys)
c.7487C>G (p.Ser2496Cys)
c.7442C>G (p.Ser2481Cys)
c.7037C>G (p.Ser2346Cys)
c.6395C>G (p.Ser2132Cys)
c.3905C>G (p.Ser1302Cys)
 dbSNP ExAC gnomAD v2
10g.71800655C>TCA5546331CDH23c.7382C>T (p.Ser2461Phe)
c.1315C>T (n.1315C>T)
c.979C>T (n.979C>T)
c.7397C>T (p.Ser2466Phe)
c.662C>T (p.Ser221Phe)
n.918C>T
c.7577C>T (p.Ser2526Phe)
c.7511C>T (p.Ser2504Phe)
c.7574C>T (p.Ser2525Phe)
c.7571C>T (p.Ser2524Phe)
c.7517C>T (p.Ser2506Phe)
c.7487C>T (p.Ser2496Phe)
c.7442C>T (p.Ser2481Phe)
c.7037C>T (p.Ser2346Phe)
c.6395C>T (p.Ser2132Phe)
c.3905C>T (p.Ser1302Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71800656T>ACA470062245CDH23c.7383T>A (p.Ser2461=)
c.1316T>A (n.1316T>A)
c.980T>A (n.980T>A)
c.7398T>A (p.Ser2466=)
c.663T>A (p.Ser221=)
n.919T>A
c.7578T>A (p.Ser2526=)
c.7512T>A (p.Ser2504=)
c.7575T>A (p.Ser2525=)
c.7572T>A (p.Ser2524=)
c.7518T>A (p.Ser2506=)
c.7488T>A (p.Ser2496=)
c.7443T>A (p.Ser2481=)
c.7038T>A (p.Ser2346=)
c.6396T>A (p.Ser2132=)
c.3906T>A (p.Ser1302=)
10g.71800656T>CCA470062247CDH23c.7383T>C (p.Ser2461=)
c.1316T>C (n.1316T>C)
c.980T>C (n.980T>C)
c.7398T>C (p.Ser2466=)
c.663T>C (p.Ser221=)
n.919T>C
c.7578T>C (p.Ser2526=)
c.7512T>C (p.Ser2504=)
c.7575T>C (p.Ser2525=)
c.7572T>C (p.Ser2524=)
c.7518T>C (p.Ser2506=)
c.7488T>C (p.Ser2496=)
c.7443T>C (p.Ser2481=)
c.7038T>C (p.Ser2346=)
c.6396T>C (p.Ser2132=)
c.3906T>C (p.Ser1302=)
10g.71800656T>GCA470062246CDH23c.7383T>G (p.Ser2461=)
c.1316T>G (n.1316T>G)
c.980T>G (n.980T>G)
c.7398T>G (p.Ser2466=)
c.663T>G (p.Ser221=)
n.919T>G
c.7578T>G (p.Ser2526=)
c.7512T>G (p.Ser2504=)
c.7575T>G (p.Ser2525=)
c.7572T>G (p.Ser2524=)
c.7518T>G (p.Ser2506=)
c.7488T>G (p.Ser2496=)
c.7443T>G (p.Ser2481=)
c.7038T>G (p.Ser2346=)
c.6396T>G (p.Ser2132=)
c.3906T>G (p.Ser1302=)
10g.71800657T>ACA377159845CDH23c.7384T>A (p.Ser2462Thr)
c.1317T>A (n.1317T>A)
c.981T>A (n.981T>A)
c.7399T>A (p.Ser2467Thr)
c.664T>A (p.Ser222Thr)
n.920T>A
c.7579T>A (p.Ser2527Thr)
c.7513T>A (p.Ser2505Thr)
c.7576T>A (p.Ser2526Thr)
c.7573T>A (p.Ser2525Thr)
c.7519T>A (p.Ser2507Thr)
c.7489T>A (p.Ser2497Thr)
c.7444T>A (p.Ser2482Thr)
c.7039T>A (p.Ser2347Thr)
c.6397T>A (p.Ser2133Thr)
c.3907T>A (p.Ser1303Thr)
10g.71800657T>CCA5546333CDH23c.7384T>C (p.Ser2462Pro)
c.1317T>C (n.1317T>C)
c.981T>C (n.981T>C)
c.7399T>C (p.Ser2467Pro)
c.664T>C (p.Ser222Pro)
n.920T>C
c.7579T>C (p.Ser2527Pro)
c.7513T>C (p.Ser2505Pro)
c.7576T>C (p.Ser2526Pro)
c.7573T>C (p.Ser2525Pro)
c.7519T>C (p.Ser2507Pro)
c.7489T>C (p.Ser2497Pro)
c.7444T>C (p.Ser2482Pro)
c.7039T>C (p.Ser2347Pro)
c.6397T>C (p.Ser2133Pro)
c.3907T>C (p.Ser1303Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71800657T>GCA377159844CDH23c.7384T>G (p.Ser2462Ala)
c.1317T>G (n.1317T>G)
c.981T>G (n.981T>G)
c.7399T>G (p.Ser2467Ala)
c.664T>G (p.Ser222Ala)
n.920T>G
c.7579T>G (p.Ser2527Ala)
c.7513T>G (p.Ser2505Ala)
c.7576T>G (p.Ser2526Ala)
c.7573T>G (p.Ser2525Ala)
c.7519T>G (p.Ser2507Ala)
c.7489T>G (p.Ser2497Ala)
c.7444T>G (p.Ser2482Ala)
c.7039T>G (p.Ser2347Ala)
c.6397T>G (p.Ser2133Ala)
c.3907T>G (p.Ser1303Ala)
10g.71800657T=CA1918879391CDH23c.7384T= (p.Ser2462=)
c.1317T= (n.1317T=)
c.981T= (n.981T=)
c.7399T= (p.Ser2467=)
c.664T= (p.Ser222=)
n.920T=
c.7579T= (p.Ser2527=)
c.7513T= (p.Ser2505=)
c.7576T= (p.Ser2526=)
c.7573T= (p.Ser2525=)
c.7519T= (p.Ser2507=)
c.7489T= (p.Ser2497=)
c.7444T= (p.Ser2482=)
c.7039T= (p.Ser2347=)
c.6397T= (p.Ser2133=)
c.3907T= (p.Ser1303=)
10g.71800658C>ACA377159846CDH23c.7385C>A (p.Ser2462Tyr)
c.1318C>A (n.1318C>A)
c.982C>A (n.982C>A)
c.7400C>A (p.Ser2467Tyr)
c.665C>A (p.Ser222Tyr)
n.921C>A
c.7580C>A (p.Ser2527Tyr)
c.7514C>A (p.Ser2505Tyr)
c.7577C>A (p.Ser2526Tyr)
c.7574C>A (p.Ser2525Tyr)
c.7520C>A (p.Ser2507Tyr)
c.7490C>A (p.Ser2497Tyr)
c.7445C>A (p.Ser2482Tyr)
c.7040C>A (p.Ser2347Tyr)
c.6398C>A (p.Ser2133Tyr)
c.3908C>A (p.Ser1303Tyr)
 dbSNP
10g.71800658C=CA1918879392CDH23c.7385C= (p.Ser2462=)
c.1318C= (n.1318C=)
c.982C= (n.982C=)
c.7400C= (p.Ser2467=)
c.665C= (p.Ser222=)
n.921C=
c.7580C= (p.Ser2527=)
c.7514C= (p.Ser2505=)
c.7577C= (p.Ser2526=)
c.7574C= (p.Ser2525=)
c.7520C= (p.Ser2507=)
c.7490C= (p.Ser2497=)
c.7445C= (p.Ser2482=)
c.7040C= (p.Ser2347=)
c.6398C= (p.Ser2133=)
c.3908C= (p.Ser1303=)
10g.71800658C>GCA377159847CDH23c.7385C>G (p.Ser2462Cys)
c.1318C>G (n.1318C>G)
c.982C>G (n.982C>G)
c.7400C>G (p.Ser2467Cys)
c.665C>G (p.Ser222Cys)
n.921C>G
c.7580C>G (p.Ser2527Cys)
c.7514C>G (p.Ser2505Cys)
c.7577C>G (p.Ser2526Cys)
c.7574C>G (p.Ser2525Cys)
c.7520C>G (p.Ser2507Cys)
c.7490C>G (p.Ser2497Cys)
c.7445C>G (p.Ser2482Cys)
c.7040C>G (p.Ser2347Cys)
c.6398C>G (p.Ser2133Cys)
c.3908C>G (p.Ser1303Cys)
10g.71800658C>TCA377159848CDH23c.7385C>T (p.Ser2462Phe)
c.1318C>T (n.1318C>T)
c.982C>T (n.982C>T)
c.7400C>T (p.Ser2467Phe)
c.665C>T (p.Ser222Phe)
n.921C>T
c.7580C>T (p.Ser2527Phe)
c.7514C>T (p.Ser2505Phe)
c.7577C>T (p.Ser2526Phe)
c.7574C>T (p.Ser2525Phe)
c.7520C>T (p.Ser2507Phe)
c.7490C>T (p.Ser2497Phe)
c.7445C>T (p.Ser2482Phe)
c.7040C>T (p.Ser2347Phe)
c.6398C>T (p.Ser2133Phe)
c.3908C>T (p.Ser1303Phe)
 gnomAD v4
10g.71800659T>ACA470062248CDH23c.7386T>A (p.Ser2462=)
c.1319T>A (n.1319T>A)
c.983T>A (n.983T>A)
c.7401T>A (p.Ser2467=)
c.666T>A (p.Ser222=)
n.922T>A
c.7581T>A (p.Ser2527=)
c.7515T>A (p.Ser2505=)
c.7578T>A (p.Ser2526=)
c.7575T>A (p.Ser2525=)
c.7521T>A (p.Ser2507=)
c.7491T>A (p.Ser2497=)
c.7446T>A (p.Ser2482=)
c.7041T>A (p.Ser2347=)
c.6399T>A (p.Ser2133=)
c.3909T>A (p.Ser1303=)
10g.71800659T>CCA470062249CDH23c.7386T>C (p.Ser2462=)
c.1319T>C (n.1319T>C)
c.983T>C (n.983T>C)
c.7401T>C (p.Ser2467=)
c.666T>C (p.Ser222=)
n.922T>C
c.7581T>C (p.Ser2527=)
c.7515T>C (p.Ser2505=)
c.7578T>C (p.Ser2526=)
c.7575T>C (p.Ser2525=)
c.7521T>C (p.Ser2507=)
c.7491T>C (p.Ser2497=)
c.7446T>C (p.Ser2482=)
c.7041T>C (p.Ser2347=)
c.6399T>C (p.Ser2133=)
c.3909T>C (p.Ser1303=)
10g.71800659T>GCA470062250CDH23c.7386T>G (p.Ser2462=)
c.1319T>G (n.1319T>G)
c.983T>G (n.983T>G)
c.7401T>G (p.Ser2467=)
c.666T>G (p.Ser222=)
n.922T>G
c.7581T>G (p.Ser2527=)
c.7515T>G (p.Ser2505=)
c.7578T>G (p.Ser2526=)
c.7575T>G (p.Ser2525=)
c.7521T>G (p.Ser2507=)
c.7491T>G (p.Ser2497=)
c.7446T>G (p.Ser2482=)
c.7041T>G (p.Ser2347=)
c.6399T>G (p.Ser2133=)
c.3909T>G (p.Ser1303=)
10g.71800660C>ACA377159849CDH23c.7387C>A (p.Leu2463Met)
c.1320C>A (n.1320C>A)
c.984C>A (n.984C>A)
c.7402C>A (p.Leu2468Met)
c.667C>A (p.Leu223Met)
n.923C>A
c.7582C>A (p.Leu2528Met)
c.7516C>A (p.Leu2506Met)
c.7579C>A (p.Leu2527Met)
c.7576C>A (p.Leu2526Met)
c.7522C>A (p.Leu2508Met)
c.7492C>A (p.Leu2498Met)
c.7447C>A (p.Leu2483Met)
c.7042C>A (p.Leu2348Met)
c.6400C>A (p.Leu2134Met)
c.3910C>A (p.Leu1304Met)
10g.71800660C>GCA377159850CDH23c.7387C>G (p.Leu2463Val)
c.1320C>G (n.1320C>G)
c.984C>G (n.984C>G)
c.7402C>G (p.Leu2468Val)
c.667C>G (p.Leu223Val)
n.923C>G
c.7582C>G (p.Leu2528Val)
c.7516C>G (p.Leu2506Val)
c.7579C>G (p.Leu2527Val)
c.7576C>G (p.Leu2526Val)
c.7522C>G (p.Leu2508Val)
c.7492C>G (p.Leu2498Val)
c.7447C>G (p.Leu2483Val)
c.7042C>G (p.Leu2348Val)
c.6400C>G (p.Leu2134Val)
c.3910C>G (p.Leu1304Val)
10g.71800660C>TCA470062251CDH23c.7387C>T (p.Leu2463=)
c.1320C>T (n.1320C>T)
c.984C>T (n.984C>T)
c.7402C>T (p.Leu2468=)
c.667C>T (p.Leu223=)
n.923C>T
c.7582C>T (p.Leu2528=)
c.7516C>T (p.Leu2506=)
c.7579C>T (p.Leu2527=)
c.7576C>T (p.Leu2526=)
c.7522C>T (p.Leu2508=)
c.7492C>T (p.Leu2498=)
c.7447C>T (p.Leu2483=)
c.7042C>T (p.Leu2348=)
c.6400C>T (p.Leu2134=)
c.3910C>T (p.Leu1304=)
10g.71800661T>ACA377159851CDH23c.7388T>A (p.Leu2463Gln)
c.1321T>A (n.1321T>A)
c.985T>A (n.985T>A)
c.7403T>A (p.Leu2468Gln)
c.668T>A (p.Leu223Gln)
n.924T>A
c.7583T>A (p.Leu2528Gln)
c.7517T>A (p.Leu2506Gln)
c.7580T>A (p.Leu2527Gln)
c.7577T>A (p.Leu2526Gln)
c.7523T>A (p.Leu2508Gln)
c.7493T>A (p.Leu2498Gln)
c.7448T>A (p.Leu2483Gln)
c.7043T>A (p.Leu2348Gln)
c.6401T>A (p.Leu2134Gln)
c.3911T>A (p.Leu1304Gln)
10g.71800661T>CCA377159852CDH23c.7388T>C (p.Leu2463Pro)
c.1321T>C (n.1321T>C)
c.985T>C (n.985T>C)
c.7403T>C (p.Leu2468Pro)
c.668T>C (p.Leu223Pro)
n.924T>C
c.7583T>C (p.Leu2528Pro)
c.7517T>C (p.Leu2506Pro)
c.7580T>C (p.Leu2527Pro)
c.7577T>C (p.Leu2526Pro)
c.7523T>C (p.Leu2508Pro)
c.7493T>C (p.Leu2498Pro)
c.7448T>C (p.Leu2483Pro)
c.7043T>C (p.Leu2348Pro)
c.6401T>C (p.Leu2134Pro)
c.3911T>C (p.Leu1304Pro)
 dbSNP gnomAD v2 gnomAD v4
10g.71800661T>GCA377159853CDH23c.7388T>G (p.Leu2463Arg)
c.1321T>G (n.1321T>G)
c.985T>G (n.985T>G)
c.7403T>G (p.Leu2468Arg)
c.668T>G (p.Leu223Arg)
n.924T>G
c.7583T>G (p.Leu2528Arg)
c.7517T>G (p.Leu2506Arg)
c.7580T>G (p.Leu2527Arg)
c.7577T>G (p.Leu2526Arg)
c.7523T>G (p.Leu2508Arg)
c.7493T>G (p.Leu2498Arg)
c.7448T>G (p.Leu2483Arg)
c.7043T>G (p.Leu2348Arg)
c.6401T>G (p.Leu2134Arg)
c.3911T>G (p.Leu1304Arg)
10g.71800661T=CA1918879393CDH23c.7388T= (p.Leu2463=)
c.1321T= (n.1321T=)
c.985T= (n.985T=)
c.7403T= (p.Leu2468=)
c.668T= (p.Leu223=)
n.924T=
c.7583T= (p.Leu2528=)
c.7517T= (p.Leu2506=)
c.7580T= (p.Leu2527=)
c.7577T= (p.Leu2526=)
c.7523T= (p.Leu2508=)
c.7493T= (p.Leu2498=)
c.7448T= (p.Leu2483=)
c.7043T= (p.Leu2348=)
c.6401T= (p.Leu2134=)
c.3911T= (p.Leu1304=)
10g.71800662G>ACA470062252CDH23c.7389G>A (p.Leu2463=)
c.1322G>A (n.1322G>A)
c.986G>A (n.986G>A)
c.7404G>A (p.Leu2468=)
c.669G>A (p.Leu223=)
n.925G>A
c.7584G>A (p.Leu2528=)
c.7518G>A (p.Leu2506=)
c.7581G>A (p.Leu2527=)
c.7578G>A (p.Leu2526=)
c.7524G>A (p.Leu2508=)
c.7494G>A (p.Leu2498=)
c.7449G>A (p.Leu2483=)
c.7044G>A (p.Leu2348=)
c.6402G>A (p.Leu2134=)
c.3912G>A (p.Leu1304=)
 dbSNP
10g.71800662G>CCA470062253CDH23c.7389G>C (p.Leu2463=)
c.1322G>C (n.1322G>C)
c.986G>C (n.986G>C)
c.7404G>C (p.Leu2468=)
c.669G>C (p.Leu223=)
n.925G>C
c.7584G>C (p.Leu2528=)
c.7518G>C (p.Leu2506=)
c.7581G>C (p.Leu2527=)
c.7578G>C (p.Leu2526=)
c.7524G>C (p.Leu2508=)
c.7494G>C (p.Leu2498=)
c.7449G>C (p.Leu2483=)
c.7044G>C (p.Leu2348=)
c.6402G>C (p.Leu2134=)
c.3912G>C (p.Leu1304=)
10g.71800662G=CA1918879394CDH23c.7389G= (p.Leu2463=)
c.1322G= (n.1322G=)
c.986G= (n.986G=)
c.7404G= (p.Leu2468=)
c.669G= (p.Leu223=)
n.925G=
c.7584G= (p.Leu2528=)
c.7518G= (p.Leu2506=)
c.7581G= (p.Leu2527=)
c.7578G= (p.Leu2526=)
c.7524G= (p.Leu2508=)
c.7494G= (p.Leu2498=)
c.7449G= (p.Leu2483=)
c.7044G= (p.Leu2348=)
c.6402G= (p.Leu2134=)
c.3912G= (p.Leu1304=)
10g.71800662G>TCA470062254CDH23c.7389G>T (p.Leu2463=)
c.1322G>T (n.1322G>T)
c.986G>T (n.986G>T)
c.7404G>T (p.Leu2468=)
c.669G>T (p.Leu223=)
n.925G>T
c.7584G>T (p.Leu2528=)
c.7518G>T (p.Leu2506=)
c.7581G>T (p.Leu2527=)
c.7578G>T (p.Leu2526=)
c.7524G>T (p.Leu2508=)
c.7494G>T (p.Leu2498=)
c.7449G>T (p.Leu2483=)
c.7044G>T (p.Leu2348=)
c.6402G>T (p.Leu2134=)
c.3912G>T (p.Leu1304=)
10g.71800664_71800668dupCA2609590840CDH23c.7391_7395dup (p.Glu2466ThrfsTer10)
c.1324_1328dup (n.1324_1328dup)
c.988_992dup (n.988_992dup)
c.7406_7410dup (p.Glu2471ThrfsTer10)
c.671_675dup (p.Glu226ThrfsTer10)
n.927_931dup
c.7586_7590dup (p.Glu2531ThrfsTer10)
c.7520_7524dup (p.Glu2509ThrfsTer10)
c.7583_7587dup (p.Glu2530ThrfsTer10)
c.7580_7584dup (p.Glu2529ThrfsTer10)
c.7526_7530dup (p.Glu2511ThrfsTer10)
c.7496_7500dup (p.Glu2501ThrfsTer10)
c.7451_7455dup (p.Glu2486ThrfsTer10)
c.7046_7050dup (p.Glu2351ThrfsTer10)
c.6404_6408dup (p.Glu2137ThrfsTer10)
c.3914_3918dup (p.Glu1307ThrfsTer10)
 gnomAD v4
10g.71800663G>ACA377159854CDH23c.7390G>A (p.Asp2464Asn)
c.1323G>A (n.1323G>A)
c.987G>A (n.987G>A)
c.7405G>A (p.Asp2469Asn)
c.670G>A (p.Asp224Asn)
n.926G>A
c.7585G>A (p.Asp2529Asn)
c.7519G>A (p.Asp2507Asn)
c.7582G>A (p.Asp2528Asn)
c.7579G>A (p.Asp2527Asn)
c.7525G>A (p.Asp2509Asn)
c.7495G>A (p.Asp2499Asn)
c.7450G>A (p.Asp2484Asn)
c.7045G>A (p.Asp2349Asn)
c.6403G>A (p.Asp2135Asn)
c.3913G>A (p.Asp1305Asn)
 gnomAD v4
10g.71800663G>CCA377159855CDH23c.7390G>C (p.Asp2464His)
c.1323G>C (n.1323G>C)
c.987G>C (n.987G>C)
c.7405G>C (p.Asp2469His)
c.670G>C (p.Asp224His)
n.926G>C
c.7585G>C (p.Asp2529His)
c.7519G>C (p.Asp2507His)
c.7582G>C (p.Asp2528His)
c.7579G>C (p.Asp2527His)
c.7525G>C (p.Asp2509His)
c.7495G>C (p.Asp2499His)
c.7450G>C (p.Asp2484His)
c.7045G>C (p.Asp2349His)
c.6403G>C (p.Asp2135His)
c.3913G>C (p.Asp1305His)
10g.71800663G>TCA377159856CDH23c.7390G>T (p.Asp2464Tyr)
c.1323G>T (n.1323G>T)
c.987G>T (n.987G>T)
c.7405G>T (p.Asp2469Tyr)
c.670G>T (p.Asp224Tyr)
n.926G>T
c.7585G>T (p.Asp2529Tyr)
c.7519G>T (p.Asp2507Tyr)
c.7582G>T (p.Asp2528Tyr)
c.7579G>T (p.Asp2527Tyr)
c.7525G>T (p.Asp2509Tyr)
c.7495G>T (p.Asp2499Tyr)
c.7450G>T (p.Asp2484Tyr)
c.7045G>T (p.Asp2349Tyr)
c.6403G>T (p.Asp2135Tyr)
c.3913G>T (p.Asp1305Tyr)
 gnomAD v4
10g.71800664A>CCA377159859CDH23c.7391A>C (p.Asp2464Ala)
c.1324A>C (n.1324A>C)
c.988A>C (n.988A>C)
c.7406A>C (p.Asp2469Ala)
c.671A>C (p.Asp224Ala)
n.927A>C
c.7586A>C (p.Asp2529Ala)
c.7520A>C (p.Asp2507Ala)
c.7583A>C (p.Asp2528Ala)
c.7580A>C (p.Asp2527Ala)
c.7526A>C (p.Asp2509Ala)
c.7496A>C (p.Asp2499Ala)
c.7451A>C (p.Asp2484Ala)
c.7046A>C (p.Asp2349Ala)
c.6404A>C (p.Asp2135Ala)
c.3914A>C (p.Asp1305Ala)
10g.71800664A>GCA377159858CDH23c.7391A>G (p.Asp2464Gly)
c.1324A>G (n.1324A>G)
c.988A>G (n.988A>G)
c.7406A>G (p.Asp2469Gly)
c.671A>G (p.Asp224Gly)
n.927A>G
c.7586A>G (p.Asp2529Gly)
c.7520A>G (p.Asp2507Gly)
c.7583A>G (p.Asp2528Gly)
c.7580A>G (p.Asp2527Gly)
c.7526A>G (p.Asp2509Gly)
c.7496A>G (p.Asp2499Gly)
c.7451A>G (p.Asp2484Gly)
c.7046A>G (p.Asp2349Gly)
c.6404A>G (p.Asp2135Gly)
c.3914A>G (p.Asp1305Gly)
10g.71800664A>TCA377159857CDH23c.7391A>T (p.Asp2464Val)
c.1324A>T (n.1324A>T)
c.988A>T (n.988A>T)
c.7406A>T (p.Asp2469Val)
c.671A>T (p.Asp224Val)
n.927A>T
c.7586A>T (p.Asp2529Val)
c.7520A>T (p.Asp2507Val)
c.7583A>T (p.Asp2528Val)
c.7580A>T (p.Asp2527Val)
c.7526A>T (p.Asp2509Val)
c.7496A>T (p.Asp2499Val)
c.7451A>T (p.Asp2484Val)
c.7046A>T (p.Asp2349Val)
c.6404A>T (p.Asp2135Val)
c.3914A>T (p.Asp1305Val)
10g.71800665C>ACA377159860CDH23c.7392C>A (p.Asp2464Glu)
c.1325C>A (n.1325C>A)
c.989C>A (n.989C>A)
c.7407C>A (p.Asp2469Glu)
c.672C>A (p.Asp224Glu)
n.928C>A
c.7587C>A (p.Asp2529Glu)
c.7521C>A (p.Asp2507Glu)
c.7584C>A (p.Asp2528Glu)
c.7581C>A (p.Asp2527Glu)
c.7527C>A (p.Asp2509Glu)
c.7497C>A (p.Asp2499Glu)
c.7452C>A (p.Asp2484Glu)
c.7047C>A (p.Asp2349Glu)
c.6405C>A (p.Asp2135Glu)
c.3915C>A (p.Asp1305Glu)
10g.71800665C=CA1918879395CDH23c.7392C= (p.Asp2464=)
c.1325C= (n.1325C=)
c.989C= (n.989C=)
c.7407C= (p.Asp2469=)
c.672C= (p.Asp224=)
n.928C=
c.7587C= (p.Asp2529=)
c.7521C= (p.Asp2507=)
c.7584C= (p.Asp2528=)
c.7581C= (p.Asp2527=)
c.7527C= (p.Asp2509=)
c.7497C= (p.Asp2499=)
c.7452C= (p.Asp2484=)
c.7047C= (p.Asp2349=)
c.6405C= (p.Asp2135=)
c.3915C= (p.Asp1305=)
10g.71800665C>GCA377159861CDH23c.7392C>G (p.Asp2464Glu)
c.1325C>G (n.1325C>G)
c.989C>G (n.989C>G)
c.7407C>G (p.Asp2469Glu)
c.672C>G (p.Asp224Glu)
n.928C>G
c.7587C>G (p.Asp2529Glu)
c.7521C>G (p.Asp2507Glu)
c.7584C>G (p.Asp2528Glu)
c.7581C>G (p.Asp2527Glu)
c.7527C>G (p.Asp2509Glu)
c.7497C>G (p.Asp2499Glu)
c.7452C>G (p.Asp2484Glu)
c.7047C>G (p.Asp2349Glu)
c.6405C>G (p.Asp2135Glu)
c.3915C>G (p.Asp1305Glu)
 dbSNP gnomAD v2 gnomAD v4
10g.71800665C>TCA470062255CDH23c.7392C>T (p.Asp2464=)
c.1325C>T (n.1325C>T)
c.989C>T (n.989C>T)
c.7407C>T (p.Asp2469=)
c.672C>T (p.Asp224=)
n.928C>T
c.7587C>T (p.Asp2529=)
c.7521C>T (p.Asp2507=)
c.7584C>T (p.Asp2528=)
c.7581C>T (p.Asp2527=)
c.7527C>T (p.Asp2509=)
c.7497C>T (p.Asp2499=)
c.7452C>T (p.Asp2484=)
c.7047C>T (p.Asp2349=)
c.6405C>T (p.Asp2135=)
c.3915C>T (p.Asp1305=)
10g.71800666C>ACA5546334CDH23c.7393C>A (p.Arg2465=)
c.1326C>A (n.1326C>A)
c.990C>A (n.990C>A)
c.7408C>A (p.Arg2470=)
c.673C>A (p.Arg225=)
n.929C>A
c.7588C>A (p.Arg2530=)
c.7522C>A (p.Arg2508=)
c.7585C>A (p.Arg2529=)
c.7582C>A (p.Arg2528=)
c.7528C>A (p.Arg2510=)
c.7498C>A (p.Arg2500=)
c.7453C>A (p.Arg2485=)
c.7048C>A (p.Arg2350=)
c.6406C>A (p.Arg2136=)
c.3916C>A (p.Arg1306=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71800666C=CA1918879396CDH23c.7393C= (p.Arg2465=)
c.1326C= (n.1326C=)
c.990C= (n.990C=)
c.7408C= (p.Arg2470=)
c.673C= (p.Arg225=)
n.929C=
c.7588C= (p.Arg2530=)
c.7522C= (p.Arg2508=)
c.7585C= (p.Arg2529=)
c.7582C= (p.Arg2528=)
c.7528C= (p.Arg2510=)
c.7498C= (p.Arg2500=)
c.7453C= (p.Arg2485=)
c.7048C= (p.Arg2350=)
c.6406C= (p.Arg2136=)
c.3916C= (p.Arg1306=)
10g.71800666C>GCA377159862CDH23c.7393C>G (p.Arg2465Gly)
c.1326C>G (n.1326C>G)
c.990C>G (n.990C>G)
c.7408C>G (p.Arg2470Gly)
c.673C>G (p.Arg225Gly)
n.929C>G
c.7588C>G (p.Arg2530Gly)
c.7522C>G (p.Arg2508Gly)
c.7585C>G (p.Arg2529Gly)
c.7582C>G (p.Arg2528Gly)
c.7528C>G (p.Arg2510Gly)
c.7498C>G (p.Arg2500Gly)
c.7453C>G (p.Arg2485Gly)
c.7048C>G (p.Arg2350Gly)
c.6406C>G (p.Arg2136Gly)
c.3916C>G (p.Arg1306Gly)
 gnomAD v4
10g.71800666C>TCA377159863CDH23c.7393C>T (p.Arg2465Trp)
c.1326C>T (n.1326C>T)
c.990C>T (n.990C>T)
c.7408C>T (p.Arg2470Trp)
c.673C>T (p.Arg225Trp)
n.929C>T
c.7588C>T (p.Arg2530Trp)
c.7522C>T (p.Arg2508Trp)
c.7585C>T (p.Arg2529Trp)
c.7582C>T (p.Arg2528Trp)
c.7528C>T (p.Arg2510Trp)
c.7498C>T (p.Arg2500Trp)
c.7453C>T (p.Arg2485Trp)
c.7048C>T (p.Arg2350Trp)
c.6406C>T (p.Arg2136Trp)
c.3916C>T (p.Arg1306Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.71800667G>ACA5546335CDH23c.7394G>A (p.Arg2465Gln)
c.1327G>A (n.1327G>A)
c.991G>A (n.991G>A)
c.7409G>A (p.Arg2470Gln)
c.674G>A (p.Arg225Gln)
n.930G>A
c.7589G>A (p.Arg2530Gln)
c.7523G>A (p.Arg2508Gln)
c.7586G>A (p.Arg2529Gln)
c.7583G>A (p.Arg2528Gln)
c.7529G>A (p.Arg2510Gln)
c.7499G>A (p.Arg2500Gln)
c.7454G>A (p.Arg2485Gln)
c.7049G>A (p.Arg2350Gln)
c.6407G>A (p.Arg2136Gln)
c.3917G>A (p.Arg1306Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71800667G>CCA377159864CDH23c.7394G>C (p.Arg2465Pro)
c.1327G>C (n.1327G>C)
c.991G>C (n.991G>C)
c.7409G>C (p.Arg2470Pro)
c.674G>C (p.Arg225Pro)
n.930G>C
c.7589G>C (p.Arg2530Pro)
c.7523G>C (p.Arg2508Pro)
c.7586G>C (p.Arg2529Pro)
c.7583G>C (p.Arg2528Pro)
c.7529G>C (p.Arg2510Pro)
c.7499G>C (p.Arg2500Pro)
c.7454G>C (p.Arg2485Pro)
c.7049G>C (p.Arg2350Pro)
c.6407G>C (p.Arg2136Pro)
c.3917G>C (p.Arg1306Pro)
 dbSNP
10g.71800667G=CA1918879397CDH23c.7394G= (p.Arg2465=)
c.1327G= (n.1327G=)
c.991G= (n.991G=)
c.7409G= (p.Arg2470=)
c.674G= (p.Arg225=)
n.930G=
c.7589G= (p.Arg2530=)
c.7523G= (p.Arg2508=)
c.7586G= (p.Arg2529=)
c.7583G= (p.Arg2528=)
c.7529G= (p.Arg2510=)
c.7499G= (p.Arg2500=)
c.7454G= (p.Arg2485=)
c.7049G= (p.Arg2350=)
c.6407G= (p.Arg2136=)
c.3917G= (p.Arg1306=)
10g.71800667G>TCA377159865CDH23c.7394G>T (p.Arg2465Leu)
c.1327G>T (n.1327G>T)
c.991G>T (n.991G>T)
c.7409G>T (p.Arg2470Leu)
c.674G>T (p.Arg225Leu)
n.930G>T
c.7589G>T (p.Arg2530Leu)
c.7523G>T (p.Arg2508Leu)
c.7586G>T (p.Arg2529Leu)
c.7583G>T (p.Arg2528Leu)
c.7529G>T (p.Arg2510Leu)
c.7499G>T (p.Arg2500Leu)
c.7454G>T (p.Arg2485Leu)
c.7049G>T (p.Arg2350Leu)
c.6407G>T (p.Arg2136Leu)
c.3917G>T (p.Arg1306Leu)
10g.71800668G>ACA5546336CDH23c.7395G>A (p.Arg2465=)
c.1328G>A (n.1328G>A)
c.992G>A (n.992G>A)
c.7410G>A (p.Arg2470=)
c.675G>A (p.Arg225=)
n.931G>A
c.7590G>A (p.Arg2530=)
c.7524G>A (p.Arg2508=)
c.7587G>A (p.Arg2529=)
c.7584G>A (p.Arg2528=)
c.7530G>A (p.Arg2510=)
c.7500G>A (p.Arg2500=)
c.7455G>A (p.Arg2485=)
c.7050G>A (p.Arg2350=)
c.6408G>A (p.Arg2136=)
c.3918G>A (p.Arg1306=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71800668G>CCA470062256CDH23c.7395G>C (p.Arg2465=)
c.1328G>C (n.1328G>C)
c.992G>C (n.992G>C)
c.7410G>C (p.Arg2470=)
c.675G>C (p.Arg225=)
n.931G>C
c.7590G>C (p.Arg2530=)
c.7524G>C (p.Arg2508=)
c.7587G>C (p.Arg2529=)
c.7584G>C (p.Arg2528=)
c.7530G>C (p.Arg2510=)
c.7500G>C (p.Arg2500=)
c.7455G>C (p.Arg2485=)
c.7050G>C (p.Arg2350=)
c.6408G>C (p.Arg2136=)
c.3918G>C (p.Arg1306=)
10g.71800668G=CA1918879398CDH23c.7395G= (p.Arg2465=)
c.1328G= (n.1328G=)
c.992G= (n.992G=)
c.7410G= (p.Arg2470=)
c.675G= (p.Arg225=)
n.931G=
c.7590G= (p.Arg2530=)
c.7524G= (p.Arg2508=)
c.7587G= (p.Arg2529=)
c.7584G= (p.Arg2528=)
c.7530G= (p.Arg2510=)
c.7500G= (p.Arg2500=)
c.7455G= (p.Arg2485=)
c.7050G= (p.Arg2350=)
c.6408G= (p.Arg2136=)
c.3918G= (p.Arg1306=)
10g.71800668G>TCA470062257CDH23c.7395G>T (p.Arg2465=)
c.1328G>T (n.1328G>T)
c.992G>T (n.992G>T)
c.7410G>T (p.Arg2470=)
c.675G>T (p.Arg225=)
n.931G>T
c.7590G>T (p.Arg2530=)
c.7524G>T (p.Arg2508=)
c.7587G>T (p.Arg2529=)
c.7584G>T (p.Arg2528=)
c.7530G>T (p.Arg2510=)
c.7500G>T (p.Arg2500=)
c.7455G>T (p.Arg2485=)
c.7050G>T (p.Arg2350=)
c.6408G>T (p.Arg2136=)
c.3918G>T (p.Arg1306=)
10g.71800669G>ACA377159866CDH23c.7396G>A (p.Glu2466Lys)
c.1329G>A (n.1329G>A)
c.993G>A (n.993G>A)
c.7411G>A (p.Glu2471Lys)
c.676G>A (p.Glu226Lys)
n.932G>A
c.7591G>A (p.Glu2531Lys)
c.7525G>A (p.Glu2509Lys)
c.7588G>A (p.Glu2530Lys)
c.7585G>A (p.Glu2529Lys)
c.7531G>A (p.Glu2511Lys)
c.7501G>A (p.Glu2501Lys)
c.7456G>A (p.Glu2486Lys)
c.7051G>A (p.Glu2351Lys)
c.6409G>A (p.Glu2137Lys)
c.3919G>A (p.Glu1307Lys)
 gnomAD v4
10g.71800669G>CCA377159867CDH23c.7396G>C (p.Glu2466Gln)
c.1329G>C (n.1329G>C)
c.993G>C (n.993G>C)
c.7411G>C (p.Glu2471Gln)
c.676G>C (p.Glu226Gln)
n.932G>C
c.7591G>C (p.Glu2531Gln)
c.7525G>C (p.Glu2509Gln)
c.7588G>C (p.Glu2530Gln)
c.7585G>C (p.Glu2529Gln)
c.7531G>C (p.Glu2511Gln)
c.7501G>C (p.Glu2501Gln)
c.7456G>C (p.Glu2486Gln)
c.7051G>C (p.Glu2351Gln)
c.6409G>C (p.Glu2137Gln)
c.3919G>C (p.Glu1307Gln)
10g.71800669G>TCA377159868CDH23c.7396G>T (p.Glu2466Ter)
c.1329G>T (n.1329G>T)
c.993G>T (n.993G>T)
c.7411G>T (p.Glu2471Ter)
c.676G>T (p.Glu226Ter)
n.932G>T
c.7591G>T (p.Glu2531Ter)
c.7525G>T (p.Glu2509Ter)
c.7588G>T (p.Glu2530Ter)
c.7585G>T (p.Glu2529Ter)
c.7531G>T (p.Glu2511Ter)
c.7501G>T (p.Glu2501Ter)
c.7456G>T (p.Glu2486Ter)
c.7051G>T (p.Glu2351Ter)
c.6409G>T (p.Glu2137Ter)
c.3919G>T (p.Glu1307Ter)
10g.71800669_71800672delinsGAGACA1918879399CDH23c.7396_7399delinsGAGA (p.Glu2466=)
c.1329_1332delinsGAGA (n.1329_1332delinsGAGA)
c.993_996delinsGAGA (n.993_996delinsGAGA)
c.7411_7414delinsGAGA (p.Glu2471=)
c.676_679delinsGAGA (p.Glu226=)
n.932_935delinsGAGA
c.7591_7594delinsGAGA (p.Glu2531=)
c.7525_7528delinsGAGA (p.Glu2509=)
c.7588_7591delinsGAGA (p.Glu2530=)
c.7585_7588delinsGAGA (p.Glu2529=)
c.7531_7534delinsGAGA (p.Glu2511=)
c.7501_7504delinsGAGA (p.Glu2501=)
c.7456_7459delinsGAGA (p.Glu2486=)
c.7051_7054delinsGAGA (p.Glu2351=)
c.6409_6412delinsGAGA (p.Glu2137=)
c.3919_3922delinsGAGA (p.Glu1307=)
10g.71800670A>CCA377159870CDH23c.7397A>C (p.Glu2466Ala)
c.1330A>C (n.1330A>C)
c.994A>C (n.994A>C)
c.7412A>C (p.Glu2471Ala)
c.677A>C (p.Glu226Ala)
n.933A>C
c.7592A>C (p.Glu2531Ala)
c.7526A>C (p.Glu2509Ala)
c.7589A>C (p.Glu2530Ala)
c.7586A>C (p.Glu2529Ala)
c.7532A>C (p.Glu2511Ala)
c.7502A>C (p.Glu2501Ala)
c.7457A>C (p.Glu2486Ala)
c.7052A>C (p.Glu2351Ala)
c.6410A>C (p.Glu2137Ala)
c.3920A>C (p.Glu1307Ala)
10g.71800670A>GCA377159871CDH23c.7397A>G (p.Glu2466Gly)
c.1330A>G (n.1330A>G)
c.994A>G (n.994A>G)
c.7412A>G (p.Glu2471Gly)
c.677A>G (p.Glu226Gly)
n.933A>G
c.7592A>G (p.Glu2531Gly)
c.7526A>G (p.Glu2509Gly)
c.7589A>G (p.Glu2530Gly)
c.7586A>G (p.Glu2529Gly)
c.7532A>G (p.Glu2511Gly)
c.7502A>G (p.Glu2501Gly)
c.7457A>G (p.Glu2486Gly)
c.7052A>G (p.Glu2351Gly)
c.6410A>G (p.Glu2137Gly)
c.3920A>G (p.Glu1307Gly)
10g.71800670A>TCA377159869CDH23c.7397A>T (p.Glu2466Val)
c.1330A>T (n.1330A>T)
c.994A>T (n.994A>T)
c.7412A>T (p.Glu2471Val)
c.677A>T (p.Glu226Val)
n.933A>T
c.7592A>T (p.Glu2531Val)
c.7526A>T (p.Glu2509Val)
c.7589A>T (p.Glu2530Val)
c.7586A>T (p.Glu2529Val)
c.7532A>T (p.Glu2511Val)
c.7502A>T (p.Glu2501Val)
c.7457A>T (p.Glu2486Val)
c.7052A>T (p.Glu2351Val)
c.6410A>T (p.Glu2137Val)
c.3920A>T (p.Glu1307Val)
10g.71800675_71800677delCA5546337CDH23c.7402_7404del (p.Lys2468del)
c.1335_1337del (n.1335_1337del)
c.999_1001del (n.999_1001del)
c.7417_7419del (p.Lys2473del)
c.682_684del (p.Lys228del)
n.938_940del
c.7597_7599del (p.Lys2533del)
c.7531_7533del (p.Lys2511del)
c.7594_7596del (p.Lys2532del)
c.7591_7593del (p.Lys2531del)
c.7537_7539del (p.Lys2513del)
c.7507_7509del (p.Lys2503del)
c.7462_7464del (p.Lys2488del)
c.7057_7059del (p.Lys2353del)
c.6415_6417del (p.Lys2139del)
c.3925_3927del (p.Lys1309del)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71800671G>ACA470062258CDH23c.7398G>A (p.Glu2466=)
c.1331G>A (n.1331G>A)
c.995G>A (n.995G>A)
c.7413G>A (p.Glu2471=)
c.678G>A (p.Glu226=)
n.934G>A
c.7593G>A (p.Glu2531=)
c.7527G>A (p.Glu2509=)
c.7590G>A (p.Glu2530=)
c.7587G>A (p.Glu2529=)
c.7533G>A (p.Glu2511=)
c.7503G>A (p.Glu2501=)
c.7458G>A (p.Glu2486=)
c.7053G>A (p.Glu2351=)
c.6411G>A (p.Glu2137=)
c.3921G>A (p.Glu1307=)
 ClinVar dbSNP
10g.71800671G>CCA377159873CDH23c.7398G>C (p.Glu2466Asp)
c.1331G>C (n.1331G>C)
c.995G>C (n.995G>C)
c.7413G>C (p.Glu2471Asp)
c.678G>C (p.Glu226Asp)
n.934G>C
c.7593G>C (p.Glu2531Asp)
c.7527G>C (p.Glu2509Asp)
c.7590G>C (p.Glu2530Asp)
c.7587G>C (p.Glu2529Asp)
c.7533G>C (p.Glu2511Asp)
c.7503G>C (p.Glu2501Asp)
c.7458G>C (p.Glu2486Asp)
c.7053G>C (p.Glu2351Asp)
c.6411G>C (p.Glu2137Asp)
c.3921G>C (p.Glu1307Asp)
10g.71800671G>TCA377159872CDH23c.7398G>T (p.Glu2466Asp)
c.1331G>T (n.1331G>T)
c.995G>T (n.995G>T)
c.7413G>T (p.Glu2471Asp)
c.678G>T (p.Glu226Asp)
n.934G>T
c.7593G>T (p.Glu2531Asp)
c.7527G>T (p.Glu2509Asp)
c.7590G>T (p.Glu2530Asp)
c.7587G>T (p.Glu2529Asp)
c.7533G>T (p.Glu2511Asp)
c.7503G>T (p.Glu2501Asp)
c.7458G>T (p.Glu2486Asp)
c.7053G>T (p.Glu2351Asp)
c.6411G>T (p.Glu2137Asp)
c.3921G>T (p.Glu1307Asp)
10g.71800672A=CA1918879400CDH23c.7399A= (p.Lys2467=)
c.1332A= (n.1332A=)
c.996A= (n.996A=)
c.7414A= (p.Lys2472=)
c.679A= (p.Lys227=)
n.935A=
c.7594A= (p.Lys2532=)
c.7528A= (p.Lys2510=)
c.7591A= (p.Lys2531=)
c.7588A= (p.Lys2530=)
c.7534A= (p.Lys2512=)
c.7504A= (p.Lys2502=)
c.7459A= (p.Lys2487=)
c.7054A= (p.Lys2352=)
c.6412A= (p.Lys2138=)
c.3922A= (p.Lys1308=)
10g.71800672A>CCA377159874CDH23c.7399A>C (p.Lys2467Gln)
c.1332A>C (n.1332A>C)
c.996A>C (n.996A>C)
c.7414A>C (p.Lys2472Gln)
c.679A>C (p.Lys227Gln)
n.935A>C
c.7594A>C (p.Lys2532Gln)
c.7528A>C (p.Lys2510Gln)
c.7591A>C (p.Lys2531Gln)
c.7588A>C (p.Lys2530Gln)
c.7534A>C (p.Lys2512Gln)
c.7504A>C (p.Lys2502Gln)
c.7459A>C (p.Lys2487Gln)
c.7054A>C (p.Lys2352Gln)
c.6412A>C (p.Lys2138Gln)
c.3922A>C (p.Lys1308Gln)
10g.71800672A>GCA5546338CDH23c.7399A>G (p.Lys2467Glu)
c.1332A>G (n.1332A>G)
c.996A>G (n.996A>G)
c.7414A>G (p.Lys2472Glu)
c.679A>G (p.Lys227Glu)
n.935A>G
c.7594A>G (p.Lys2532Glu)
c.7528A>G (p.Lys2510Glu)
c.7591A>G (p.Lys2531Glu)
c.7588A>G (p.Lys2530Glu)
c.7534A>G (p.Lys2512Glu)
c.7504A>G (p.Lys2502Glu)
c.7459A>G (p.Lys2487Glu)
c.7054A>G (p.Lys2352Glu)
c.6412A>G (p.Lys2138Glu)
c.3922A>G (p.Lys1308Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71800672A>TCA377159875CDH23c.7399A>T (p.Lys2467Ter)
c.1332A>T (n.1332A>T)
c.996A>T (n.996A>T)
c.7414A>T (p.Lys2472Ter)
c.679A>T (p.Lys227Ter)
n.935A>T
c.7594A>T (p.Lys2532Ter)
c.7528A>T (p.Lys2510Ter)
c.7591A>T (p.Lys2531Ter)
c.7588A>T (p.Lys2530Ter)
c.7534A>T (p.Lys2512Ter)
c.7504A>T (p.Lys2502Ter)
c.7459A>T (p.Lys2487Ter)
c.7054A>T (p.Lys2352Ter)
c.6412A>T (p.Lys2138Ter)
c.3922A>T (p.Lys1308Ter)
10g.71800673A>CCA377159876CDH23c.7400A>C (p.Lys2467Thr)
c.1333A>C (n.1333A>C)
c.997A>C (n.997A>C)
c.7415A>C (p.Lys2472Thr)
c.680A>C (p.Lys227Thr)
n.936A>C
c.7595A>C (p.Lys2532Thr)
c.7529A>C (p.Lys2510Thr)
c.7592A>C (p.Lys2531Thr)
c.7589A>C (p.Lys2530Thr)
c.7535A>C (p.Lys2512Thr)
c.7505A>C (p.Lys2502Thr)
c.7460A>C (p.Lys2487Thr)
c.7055A>C (p.Lys2352Thr)
c.6413A>C (p.Lys2138Thr)
c.3923A>C (p.Lys1308Thr)
10g.71800673A>GCA377159877CDH23c.7400A>G (p.Lys2467Arg)
c.1333A>G (n.1333A>G)
c.997A>G (n.997A>G)
c.7415A>G (p.Lys2472Arg)
c.680A>G (p.Lys227Arg)
n.936A>G
c.7595A>G (p.Lys2532Arg)
c.7529A>G (p.Lys2510Arg)
c.7592A>G (p.Lys2531Arg)
c.7589A>G (p.Lys2530Arg)
c.7535A>G (p.Lys2512Arg)
c.7505A>G (p.Lys2502Arg)
c.7460A>G (p.Lys2487Arg)
c.7055A>G (p.Lys2352Arg)
c.6413A>G (p.Lys2138Arg)
c.3923A>G (p.Lys1308Arg)
10g.71800673A>TCA377159878CDH23c.7400A>T (p.Lys2467Met)
c.1333A>T (n.1333A>T)
c.997A>T (n.997A>T)
c.7415A>T (p.Lys2472Met)
c.680A>T (p.Lys227Met)
n.936A>T
c.7595A>T (p.Lys2532Met)
c.7529A>T (p.Lys2510Met)
c.7592A>T (p.Lys2531Met)
c.7589A>T (p.Lys2530Met)
c.7535A>T (p.Lys2512Met)
c.7505A>T (p.Lys2502Met)
c.7460A>T (p.Lys2487Met)
c.7055A>T (p.Lys2352Met)
c.6413A>T (p.Lys2138Met)
c.3923A>T (p.Lys1308Met)
10g.71800674G>ACA470062259CDH23c.7401G>A (p.Lys2467=)
c.1334G>A (n.1334G>A)
c.998G>A (n.998G>A)
c.7416G>A (p.Lys2472=)
c.681G>A (p.Lys227=)
n.937G>A
c.7596G>A (p.Lys2532=)
c.7530G>A (p.Lys2510=)
c.7593G>A (p.Lys2531=)
c.7590G>A (p.Lys2530=)
c.7536G>A (p.Lys2512=)
c.7506G>A (p.Lys2502=)
c.7461G>A (p.Lys2487=)
c.7056G>A (p.Lys2352=)
c.6414G>A (p.Lys2138=)
c.3924G>A (p.Lys1308=)
10g.71800674G>CCA377159879CDH23c.7401G>C (p.Lys2467Asn)
c.1334G>C (n.1334G>C)
c.998G>C (n.998G>C)
c.7416G>C (p.Lys2472Asn)
c.681G>C (p.Lys227Asn)
n.937G>C
c.7596G>C (p.Lys2532Asn)
c.7530G>C (p.Lys2510Asn)
c.7593G>C (p.Lys2531Asn)
c.7590G>C (p.Lys2530Asn)
c.7536G>C (p.Lys2512Asn)
c.7506G>C (p.Lys2502Asn)
c.7461G>C (p.Lys2487Asn)
c.7056G>C (p.Lys2352Asn)
c.6414G>C (p.Lys2138Asn)
c.3924G>C (p.Lys1308Asn)
10g.71800674G>TCA377159880CDH23c.7401G>T (p.Lys2467Asn)
c.1334G>T (n.1334G>T)
c.998G>T (n.998G>T)
c.7416G>T (p.Lys2472Asn)
c.681G>T (p.Lys227Asn)
n.937G>T
c.7596G>T (p.Lys2532Asn)
c.7530G>T (p.Lys2510Asn)
c.7593G>T (p.Lys2531Asn)
c.7590G>T (p.Lys2530Asn)
c.7536G>T (p.Lys2512Asn)
c.7506G>T (p.Lys2502Asn)
c.7461G>T (p.Lys2487Asn)
c.7056G>T (p.Lys2352Asn)
c.6414G>T (p.Lys2138Asn)
c.3924G>T (p.Lys1308Asn)
10g.71800675A>CCA377159881CDH23c.7402A>C (p.Lys2468Gln)
c.1335A>C (n.1335A>C)
c.999A>C (n.999A>C)
c.7417A>C (p.Lys2473Gln)
c.682A>C (p.Lys228Gln)
n.938A>C
c.7597A>C (p.Lys2533Gln)
c.7531A>C (p.Lys2511Gln)
c.7594A>C (p.Lys2532Gln)
c.7591A>C (p.Lys2531Gln)
c.7537A>C (p.Lys2513Gln)
c.7507A>C (p.Lys2503Gln)
c.7462A>C (p.Lys2488Gln)
c.7057A>C (p.Lys2353Gln)
c.6415A>C (p.Lys2139Gln)
c.3925A>C (p.Lys1309Gln)
10g.71800675A>GCA377159882CDH23c.7402A>G (p.Lys2468Glu)
c.1335A>G (n.1335A>G)
c.999A>G (n.999A>G)
c.7417A>G (p.Lys2473Glu)
c.682A>G (p.Lys228Glu)
n.938A>G
c.7597A>G (p.Lys2533Glu)
c.7531A>G (p.Lys2511Glu)
c.7594A>G (p.Lys2532Glu)
c.7591A>G (p.Lys2531Glu)
c.7537A>G (p.Lys2513Glu)
c.7507A>G (p.Lys2503Glu)
c.7462A>G (p.Lys2488Glu)
c.7057A>G (p.Lys2353Glu)
c.6415A>G (p.Lys2139Glu)
c.3925A>G (p.Lys1309Glu)
10g.71800675A>TCA377159883CDH23c.7402A>T (p.Lys2468Ter)
c.1335A>T (n.1335A>T)
c.999A>T (n.999A>T)
c.7417A>T (p.Lys2473Ter)
c.682A>T (p.Lys228Ter)
n.938A>T
c.7597A>T (p.Lys2533Ter)
c.7531A>T (p.Lys2511Ter)
c.7594A>T (p.Lys2532Ter)
c.7591A>T (p.Lys2531Ter)
c.7537A>T (p.Lys2513Ter)
c.7507A>T (p.Lys2503Ter)
c.7462A>T (p.Lys2488Ter)
c.7057A>T (p.Lys2353Ter)
c.6415A>T (p.Lys2139Ter)
c.3925A>T (p.Lys1309Ter)
10g.71800676A>CCA377159886CDH23c.7403A>C (p.Lys2468Thr)
c.1336A>C (n.1336A>C)
c.1000A>C (n.1000A>C)
c.7418A>C (p.Lys2473Thr)
c.683A>C (p.Lys228Thr)
n.939A>C
c.7598A>C (p.Lys2533Thr)
c.7532A>C (p.Lys2511Thr)
c.7595A>C (p.Lys2532Thr)
c.7592A>C (p.Lys2531Thr)
c.7538A>C (p.Lys2513Thr)
c.7508A>C (p.Lys2503Thr)
c.7463A>C (p.Lys2488Thr)
c.7058A>C (p.Lys2353Thr)
c.6416A>C (p.Lys2139Thr)
c.3926A>C (p.Lys1309Thr)
10g.71800676A>GCA377159885CDH23c.7403A>G (p.Lys2468Arg)
c.1336A>G (n.1336A>G)
c.1000A>G (n.1000A>G)
c.7418A>G (p.Lys2473Arg)
c.683A>G (p.Lys228Arg)
n.939A>G
c.7598A>G (p.Lys2533Arg)
c.7532A>G (p.Lys2511Arg)
c.7595A>G (p.Lys2532Arg)
c.7592A>G (p.Lys2531Arg)
c.7538A>G (p.Lys2513Arg)
c.7508A>G (p.Lys2503Arg)
c.7463A>G (p.Lys2488Arg)
c.7058A>G (p.Lys2353Arg)
c.6416A>G (p.Lys2139Arg)
c.3926A>G (p.Lys1309Arg)
10g.71800676A>TCA377159884CDH23c.7403A>T (p.Lys2468Met)
c.1336A>T (n.1336A>T)
c.1000A>T (n.1000A>T)
c.7418A>T (p.Lys2473Met)
c.683A>T (p.Lys228Met)
n.939A>T
c.7598A>T (p.Lys2533Met)
c.7532A>T (p.Lys2511Met)
c.7595A>T (p.Lys2532Met)
c.7592A>T (p.Lys2531Met)
c.7538A>T (p.Lys2513Met)
c.7508A>T (p.Lys2503Met)
c.7463A>T (p.Lys2488Met)
c.7058A>T (p.Lys2353Met)
c.6416A>T (p.Lys2139Met)
c.3926A>T (p.Lys1309Met)
10g.71800677G>ACA5546339CDH23c.7404G>A (p.Lys2468=)
c.1337G>A (n.1337G>A)
c.1001G>A (n.1001G>A)
c.7419G>A (p.Lys2473=)
c.684G>A (p.Lys228=)
n.940G>A
c.7599G>A (p.Lys2533=)
c.7533G>A (p.Lys2511=)
c.7596G>A (p.Lys2532=)
c.7593G>A (p.Lys2531=)
c.7539G>A (p.Lys2513=)
c.7509G>A (p.Lys2503=)
c.7464G>A (p.Lys2488=)
c.7059G>A (p.Lys2353=)
c.6417G>A (p.Lys2139=)
c.3927G>A (p.Lys1309=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71800677G>CCA377159887CDH23c.7404G>C (p.Lys2468Asn)
c.1337G>C (n.1337G>C)
c.1001G>C (n.1001G>C)
c.7419G>C (p.Lys2473Asn)
c.684G>C (p.Lys228Asn)
n.940G>C
c.7599G>C (p.Lys2533Asn)
c.7533G>C (p.Lys2511Asn)
c.7596G>C (p.Lys2532Asn)
c.7593G>C (p.Lys2531Asn)
c.7539G>C (p.Lys2513Asn)
c.7509G>C (p.Lys2503Asn)
c.7464G>C (p.Lys2488Asn)
c.7059G>C (p.Lys2353Asn)
c.6417G>C (p.Lys2139Asn)
c.3927G>C (p.Lys1309Asn)
10g.71800677G=CA1918879401CDH23c.7404G= (p.Lys2468=)
c.1337G= (n.1337G=)
c.1001G= (n.1001G=)
c.7419G= (p.Lys2473=)
c.684G= (p.Lys228=)
n.940G=
c.7599G= (p.Lys2533=)
c.7533G= (p.Lys2511=)
c.7596G= (p.Lys2532=)
c.7593G= (p.Lys2531=)
c.7539G= (p.Lys2513=)
c.7509G= (p.Lys2503=)
c.7464G= (p.Lys2488=)
c.7059G= (p.Lys2353=)
c.6417G= (p.Lys2139=)
c.3927G= (p.Lys1309=)
10g.71800677G>TCA377159888CDH23c.7404G>T (p.Lys2468Asn)
c.1337G>T (n.1337G>T)
c.1001G>T (n.1001G>T)
c.7419G>T (p.Lys2473Asn)
c.684G>T (p.Lys228Asn)
n.940G>T
c.7599G>T (p.Lys2533Asn)
c.7533G>T (p.Lys2511Asn)
c.7596G>T (p.Lys2532Asn)
c.7593G>T (p.Lys2531Asn)
c.7539G>T (p.Lys2513Asn)
c.7509G>T (p.Lys2503Asn)
c.7464G>T (p.Lys2488Asn)
c.7059G>T (p.Lys2353Asn)
c.6417G>T (p.Lys2139Asn)
c.3927G>T (p.Lys1309Asn)
10g.71800678G>ACA5546340CDH23c.7405G>A (p.Asp2469Asn)
c.1338G>A (n.1338G>A)
c.1002G>A (n.1002G>A)
c.7420G>A (p.Asp2474Asn)
c.685G>A (p.Asp229Asn)
n.941G>A
c.7600G>A (p.Asp2534Asn)
c.7534G>A (p.Asp2512Asn)
c.7597G>A (p.Asp2533Asn)
c.7594G>A (p.Asp2532Asn)
c.7540G>A (p.Asp2514Asn)
c.7510G>A (p.Asp2504Asn)
c.7465G>A (p.Asp2489Asn)
c.7060G>A (p.Asp2354Asn)
c.6418G>A (p.Asp2140Asn)
c.3928G>A (p.Asp1310Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71800678G>CCA377159889CDH23c.7405G>C (p.Asp2469His)
c.1338G>C (n.1338G>C)
c.1002G>C (n.1002G>C)
c.7420G>C (p.Asp2474His)
c.685G>C (p.Asp229His)
n.941G>C
c.7600G>C (p.Asp2534His)
c.7534G>C (p.Asp2512His)
c.7597G>C (p.Asp2533His)
c.7594G>C (p.Asp2532His)
c.7540G>C (p.Asp2514His)
c.7510G>C (p.Asp2504His)
c.7465G>C (p.Asp2489His)
c.7060G>C (p.Asp2354His)
c.6418G>C (p.Asp2140His)
c.3928G>C (p.Asp1310His)
 gnomAD v4
10g.71800678G=CA1918879402CDH23c.7405G= (p.Asp2469=)
c.1338G= (n.1338G=)
c.1002G= (n.1002G=)
c.7420G= (p.Asp2474=)
c.685G= (p.Asp229=)
n.941G=
c.7600G= (p.Asp2534=)
c.7534G= (p.Asp2512=)
c.7597G= (p.Asp2533=)
c.7594G= (p.Asp2532=)
c.7540G= (p.Asp2514=)
c.7510G= (p.Asp2504=)
c.7465G= (p.Asp2489=)
c.7060G= (p.Asp2354=)
c.6418G= (p.Asp2140=)
c.3928G= (p.Asp1310=)
10g.71800678G>TCA377159890CDH23c.7405G>T (p.Asp2469Tyr)
c.1338G>T (n.1338G>T)
c.1002G>T (n.1002G>T)
c.7420G>T (p.Asp2474Tyr)
c.685G>T (p.Asp229Tyr)
n.941G>T
c.7600G>T (p.Asp2534Tyr)
c.7534G>T (p.Asp2512Tyr)
c.7597G>T (p.Asp2533Tyr)
c.7594G>T (p.Asp2532Tyr)
c.7540G>T (p.Asp2514Tyr)
c.7510G>T (p.Asp2504Tyr)
c.7465G>T (p.Asp2489Tyr)
c.7060G>T (p.Asp2354Tyr)
c.6418G>T (p.Asp2140Tyr)
c.3928G>T (p.Asp1310Tyr)
10g.71800679A>CCA377159891CDH23c.7406A>C (p.Asp2469Ala)
c.1339A>C (n.1339A>C)
c.1003A>C (n.1003A>C)
c.7421A>C (p.Asp2474Ala)
c.686A>C (p.Asp229Ala)
n.942A>C
c.7601A>C (p.Asp2534Ala)
c.7535A>C (p.Asp2512Ala)
c.7598A>C (p.Asp2533Ala)
c.7595A>C (p.Asp2532Ala)
c.7541A>C (p.Asp2514Ala)
c.7511A>C (p.Asp2504Ala)
c.7466A>C (p.Asp2489Ala)
c.7061A>C (p.Asp2354Ala)
c.6419A>C (p.Asp2140Ala)
c.3929A>C (p.Asp1310Ala)
10g.71800679A>GCA377159892CDH23c.7406A>G (p.Asp2469Gly)
c.1339A>G (n.1339A>G)
c.1003A>G (n.1003A>G)
c.7421A>G (p.Asp2474Gly)
c.686A>G (p.Asp229Gly)
n.942A>G
c.7601A>G (p.Asp2534Gly)
c.7535A>G (p.Asp2512Gly)
c.7598A>G (p.Asp2533Gly)
c.7595A>G (p.Asp2532Gly)
c.7541A>G (p.Asp2514Gly)
c.7511A>G (p.Asp2504Gly)
c.7466A>G (p.Asp2489Gly)
c.7061A>G (p.Asp2354Gly)
c.6419A>G (p.Asp2140Gly)
c.3929A>G (p.Asp1310Gly)
 ClinVar dbSNP
10g.71800679A>TCA377159893CDH23c.7406A>T (p.Asp2469Val)
c.1339A>T (n.1339A>T)
c.1003A>T (n.1003A>T)
c.7421A>T (p.Asp2474Val)
c.686A>T (p.Asp229Val)
n.942A>T
c.7601A>T (p.Asp2534Val)
c.7535A>T (p.Asp2512Val)
c.7598A>T (p.Asp2533Val)
c.7595A>T (p.Asp2532Val)
c.7541A>T (p.Asp2514Val)
c.7511A>T (p.Asp2504Val)
c.7466A>T (p.Asp2489Val)
c.7061A>T (p.Asp2354Val)
c.6419A>T (p.Asp2140Val)
c.3929A>T (p.Asp1310Val)
10g.71800681_71800683dupCA2609590871CDH23c.7408_7410dup (p.His2470_Tyr2471insHis)
c.1341_1343dup (n.1341_1343dup)
c.1005_1007dup (n.1005_1007dup)
c.7423_7425dup (p.His2475_Tyr2476insHis)
c.688_690dup (p.His230_Tyr231insHis)
n.944_946dup
c.7603_7605dup (p.His2535_Tyr2536insHis)
c.7537_7539dup (p.His2513_Tyr2514insHis)
c.7600_7602dup (p.His2534_Tyr2535insHis)
c.7597_7599dup (p.His2533_Tyr2534insHis)
c.7543_7545dup (p.His2515_Tyr2516insHis)
c.7513_7515dup (p.His2505_Tyr2506insHis)
c.7468_7470dup (p.His2490_Tyr2491insHis)
c.7063_7065dup (p.His2355_Tyr2356insHis)
c.6421_6423dup (p.His2141_Tyr2142insHis)
c.3931_3933dup (p.His1311_Tyr1312insHis)
 gnomAD v4
10g.71800680C>ACA377159894CDH23c.7407C>A (p.Asp2469Glu)
c.1340C>A (n.1340C>A)
c.1004C>A (n.1004C>A)
c.7422C>A (p.Asp2474Glu)
c.687C>A (p.Asp229Glu)
n.943C>A
c.7602C>A (p.Asp2534Glu)
c.7536C>A (p.Asp2512Glu)
c.7599C>A (p.Asp2533Glu)
c.7596C>A (p.Asp2532Glu)
c.7542C>A (p.Asp2514Glu)
c.7512C>A (p.Asp2504Glu)
c.7467C>A (p.Asp2489Glu)
c.7062C>A (p.Asp2354Glu)
c.6420C>A (p.Asp2140Glu)
c.3930C>A (p.Asp1310Glu)
10g.71800680C=CA1918879403CDH23c.7407C= (p.Asp2469=)
c.1340C= (n.1340C=)
c.1004C= (n.1004C=)
c.7422C= (p.Asp2474=)
c.687C= (p.Asp229=)
n.943C=
c.7602C= (p.Asp2534=)
c.7536C= (p.Asp2512=)
c.7599C= (p.Asp2533=)
c.7596C= (p.Asp2532=)
c.7542C= (p.Asp2514=)
c.7512C= (p.Asp2504=)
c.7467C= (p.Asp2489=)
c.7062C= (p.Asp2354=)
c.6420C= (p.Asp2140=)
c.3930C= (p.Asp1310=)
10g.71800680C>GCA377159895CDH23c.7407C>G (p.Asp2469Glu)
c.1340C>G (n.1340C>G)
c.1004C>G (n.1004C>G)
c.7422C>G (p.Asp2474Glu)
c.687C>G (p.Asp229Glu)
n.943C>G
c.7602C>G (p.Asp2534Glu)
c.7536C>G (p.Asp2512Glu)
c.7599C>G (p.Asp2533Glu)
c.7596C>G (p.Asp2532Glu)
c.7542C>G (p.Asp2514Glu)
c.7512C>G (p.Asp2504Glu)
c.7467C>G (p.Asp2489Glu)
c.7062C>G (p.Asp2354Glu)
c.6420C>G (p.Asp2140Glu)
c.3930C>G (p.Asp1310Glu)
10g.71800680C>TCA5546341CDH23c.7407C>T (p.Asp2469=)
c.1340C>T (n.1340C>T)
c.1004C>T (n.1004C>T)
c.7422C>T (p.Asp2474=)
c.687C>T (p.Asp229=)
n.943C>T
c.7602C>T (p.Asp2534=)
c.7536C>T (p.Asp2512=)
c.7599C>T (p.Asp2533=)
c.7596C>T (p.Asp2532=)
c.7542C>T (p.Asp2514=)
c.7512C>T (p.Asp2504=)
c.7467C>T (p.Asp2489=)
c.7062C>T (p.Asp2354=)
c.6420C>T (p.Asp2140=)
c.3930C>T (p.Asp1310=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71800681C>ACA377159897CDH23c.7408C>A (p.His2470Asn)
c.1341C>A (n.1341C>A)
c.1005C>A (n.1005C>A)
c.7423C>A (p.His2475Asn)
c.688C>A (p.His230Asn)
n.944C>A
c.7603C>A (p.His2535Asn)
c.7537C>A (p.His2513Asn)
c.7600C>A (p.His2534Asn)
c.7597C>A (p.His2533Asn)
c.7543C>A (p.His2515Asn)
c.7513C>A (p.His2505Asn)
c.7468C>A (p.His2490Asn)
c.7063C>A (p.His2355Asn)
c.6421C>A (p.His2141Asn)
c.3931C>A (p.His1311Asn)
10g.71800681C=CA1918879404CDH23c.7408C= (p.His2470=)
c.1341C= (n.1341C=)
c.1005C= (n.1005C=)
c.7423C= (p.His2475=)
c.688C= (p.His230=)
n.944C=
c.7603C= (p.His2535=)
c.7537C= (p.His2513=)
c.7600C= (p.His2534=)
c.7597C= (p.His2533=)
c.7543C= (p.His2515=)
c.7513C= (p.His2505=)
c.7468C= (p.His2490=)
c.7063C= (p.His2355=)
c.6421C= (p.His2141=)
c.3931C= (p.His1311=)
10g.71800681C>GCA377159896CDH23c.7408C>G (p.His2470Asp)
c.1341C>G (n.1341C>G)
c.1005C>G (n.1005C>G)
c.7423C>G (p.His2475Asp)
c.688C>G (p.His230Asp)
n.944C>G
c.7603C>G (p.His2535Asp)
c.7537C>G (p.His2513Asp)
c.7600C>G (p.His2534Asp)
c.7597C>G (p.His2533Asp)
c.7543C>G (p.His2515Asp)
c.7513C>G (p.His2505Asp)
c.7468C>G (p.His2490Asp)
c.7063C>G (p.His2355Asp)
c.6421C>G (p.His2141Asp)
c.3931C>G (p.His1311Asp)
10g.71800681C>TCA5546342CDH23c.7408C>T (p.His2470Tyr)
c.1341C>T (n.1341C>T)
c.1005C>T (n.1005C>T)
c.7423C>T (p.His2475Tyr)
c.688C>T (p.His230Tyr)
n.944C>T
c.7603C>T (p.His2535Tyr)
c.7537C>T (p.His2513Tyr)
c.7600C>T (p.His2534Tyr)
c.7597C>T (p.His2533Tyr)
c.7543C>T (p.His2515Tyr)
c.7513C>T (p.His2505Tyr)
c.7468C>T (p.His2490Tyr)
c.7063C>T (p.His2355Tyr)
c.6421C>T (p.His2141Tyr)
c.3931C>T (p.His1311Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71800682A=CA1918879405CDH23c.7409A= (p.His2470=)
c.1342A= (n.1342A=)
c.1006A= (n.1006A=)
c.7424A= (p.His2475=)
c.689A= (p.His230=)
n.945A=
c.7604A= (p.His2535=)
c.7538A= (p.His2513=)
c.7601A= (p.His2534=)
c.7598A= (p.His2533=)
c.7544A= (p.His2515=)
c.7514A= (p.His2505=)
c.7469A= (p.His2490=)
c.7064A= (p.His2355=)
c.6422A= (p.His2141=)
c.3932A= (p.His1311=)
10g.71800682A>CCA377159898CDH23c.7409A>C (p.His2470Pro)
c.1342A>C (n.1342A>C)
c.1006A>C (n.1006A>C)
c.7424A>C (p.His2475Pro)
c.689A>C (p.His230Pro)
n.945A>C
c.7604A>C (p.His2535Pro)
c.7538A>C (p.His2513Pro)
c.7601A>C (p.His2534Pro)
c.7598A>C (p.His2533Pro)
c.7544A>C (p.His2515Pro)
c.7514A>C (p.His2505Pro)
c.7469A>C (p.His2490Pro)
c.7064A>C (p.His2355Pro)
c.6422A>C (p.His2141Pro)
c.3932A>C (p.His1311Pro)
 dbSNP gnomAD v2 gnomAD v4
10g.71800682A>GCA377159899CDH23c.7409A>G (p.His2470Arg)
c.1342A>G (n.1342A>G)
c.1006A>G (n.1006A>G)
c.7424A>G (p.His2475Arg)
c.689A>G (p.His230Arg)
n.945A>G
c.7604A>G (p.His2535Arg)
c.7538A>G (p.His2513Arg)
c.7601A>G (p.His2534Arg)
c.7598A>G (p.His2533Arg)
c.7544A>G (p.His2515Arg)
c.7514A>G (p.His2505Arg)
c.7469A>G (p.His2490Arg)
c.7064A>G (p.His2355Arg)
c.6422A>G (p.His2141Arg)
c.3932A>G (p.His1311Arg)
10g.71800682A>TCA377159900CDH23c.7409A>T (p.His2470Leu)
c.1342A>T (n.1342A>T)
c.1006A>T (n.1006A>T)
c.7424A>T (p.His2475Leu)
c.689A>T (p.His230Leu)
n.945A>T
c.7604A>T (p.His2535Leu)
c.7538A>T (p.His2513Leu)
c.7601A>T (p.His2534Leu)
c.7598A>T (p.His2533Leu)
c.7544A>T (p.His2515Leu)
c.7514A>T (p.His2505Leu)
c.7469A>T (p.His2490Leu)
c.7064A>T (p.His2355Leu)
c.6422A>T (p.His2141Leu)
c.3932A>T (p.His1311Leu)
10g.71800683C>ACA377159901CDH23c.7410C>A (p.His2470Gln)
c.1343C>A (n.1343C>A)
c.1007C>A (n.1007C>A)
c.7425C>A (p.His2475Gln)
c.690C>A (p.His230Gln)
n.946C>A
c.7605C>A (p.His2535Gln)
c.7539C>A (p.His2513Gln)
c.7602C>A (p.His2534Gln)
c.7599C>A (p.His2533Gln)
c.7545C>A (p.His2515Gln)
c.7515C>A (p.His2505Gln)
c.7470C>A (p.His2490Gln)
c.7065C>A (p.His2355Gln)
c.6423C>A (p.His2141Gln)
c.3933C>A (p.His1311Gln)
10g.71800683C=CA1918879406CDH23c.7410C= (p.His2470=)
c.1343C= (n.1343C=)
c.1007C= (n.1007C=)
c.7425C= (p.His2475=)
c.690C= (p.His230=)
n.946C=
c.7605C= (p.His2535=)
c.7539C= (p.His2513=)
c.7602C= (p.His2534=)
c.7599C= (p.His2533=)
c.7545C= (p.His2515=)
c.7515C= (p.His2505=)
c.7470C= (p.His2490=)
c.7065C= (p.His2355=)
c.6423C= (p.His2141=)
c.3933C= (p.His1311=)
10g.71800683C>GCA377159902CDH23c.7410C>G (p.His2470Gln)
c.1343C>G (n.1343C>G)
c.1007C>G (n.1007C>G)
c.7425C>G (p.His2475Gln)
c.690C>G (p.His230Gln)
n.946C>G
c.7605C>G (p.His2535Gln)
c.7539C>G (p.His2513Gln)
c.7602C>G (p.His2534Gln)
c.7599C>G (p.His2533Gln)
c.7545C>G (p.His2515Gln)
c.7515C>G (p.His2505Gln)
c.7470C>G (p.His2490Gln)
c.7065C>G (p.His2355Gln)
c.6423C>G (p.His2141Gln)
c.3933C>G (p.His1311Gln)
10g.71800683C>TCA470062261CDH23c.7410C>T (p.His2470=)
c.1343C>T (n.1343C>T)
c.1007C>T (n.1007C>T)
c.7425C>T (p.His2475=)
c.690C>T (p.His230=)
n.946C>T
c.7605C>T (p.His2535=)
c.7539C>T (p.His2513=)
c.7602C>T (p.His2534=)
c.7599C>T (p.His2533=)
c.7545C>T (p.His2515=)
c.7515C>T (p.His2505=)
c.7470C>T (p.His2490=)
c.7065C>T (p.His2355=)
c.6423C>T (p.His2141=)
c.3933C>T (p.His1311=)
 dbSNP
10g.71800684T>ACA377159903CDH23c.7411T>A (p.Tyr2471Asn)
c.1344T>A (n.1344T>A)
c.1008T>A (n.1008T>A)
c.7426T>A (p.Tyr2476Asn)
c.691T>A (p.Tyr231Asn)
n.947T>A
c.7606T>A (p.Tyr2536Asn)
c.7540T>A (p.Tyr2514Asn)
c.7603T>A (p.Tyr2535Asn)
c.7600T>A (p.Tyr2534Asn)
c.7546T>A (p.Tyr2516Asn)
c.7516T>A (p.Tyr2506Asn)
c.7471T>A (p.Tyr2491Asn)
c.7066T>A (p.Tyr2356Asn)
c.6424T>A (p.Tyr2142Asn)
c.3934T>A (p.Tyr1312Asn)
10g.71800684T>CCA377159904CDH23c.7411T>C (p.Tyr2471His)
c.1344T>C (n.1344T>C)
c.1008T>C (n.1008T>C)
c.7426T>C (p.Tyr2476His)
c.691T>C (p.Tyr231His)
n.947T>C
c.7606T>C (p.Tyr2536His)
c.7540T>C (p.Tyr2514His)
c.7603T>C (p.Tyr2535His)
c.7600T>C (p.Tyr2534His)
c.7546T>C (p.Tyr2516His)
c.7516T>C (p.Tyr2506His)
c.7471T>C (p.Tyr2491His)
c.7066T>C (p.Tyr2356His)
c.6424T>C (p.Tyr2142His)
c.3934T>C (p.Tyr1312His)
 COSMIC
10g.71800684T>GCA377159905CDH23c.7411T>G (p.Tyr2471Asp)
c.1344T>G (n.1344T>G)
c.1008T>G (n.1008T>G)
c.7426T>G (p.Tyr2476Asp)
c.691T>G (p.Tyr231Asp)
n.947T>G
c.7606T>G (p.Tyr2536Asp)
c.7540T>G (p.Tyr2514Asp)
c.7603T>G (p.Tyr2535Asp)
c.7600T>G (p.Tyr2534Asp)
c.7546T>G (p.Tyr2516Asp)
c.7516T>G (p.Tyr2506Asp)
c.7471T>G (p.Tyr2491Asp)
c.7066T>G (p.Tyr2356Asp)
c.6424T>G (p.Tyr2142Asp)
c.3934T>G (p.Tyr1312Asp)
10g.71800685A>CCA377159906CDH23c.7412A>C (p.Tyr2471Ser)
c.1345A>C (n.1345A>C)
c.1009A>C (n.1009A>C)
c.7427A>C (p.Tyr2476Ser)
c.692A>C (p.Tyr231Ser)
n.948A>C
c.7607A>C (p.Tyr2536Ser)
c.7541A>C (p.Tyr2514Ser)
c.7604A>C (p.Tyr2535Ser)
c.7601A>C (p.Tyr2534Ser)
c.7547A>C (p.Tyr2516Ser)
c.7517A>C (p.Tyr2506Ser)
c.7472A>C (p.Tyr2491Ser)
c.7067A>C (p.Tyr2356Ser)
c.6425A>C (p.Tyr2142Ser)
c.3935A>C (p.Tyr1312Ser)
10g.71800685A>GCA377159907CDH23c.7412A>G (p.Tyr2471Cys)
c.1345A>G (n.1345A>G)
c.1009A>G (n.1009A>G)
c.7427A>G (p.Tyr2476Cys)
c.692A>G (p.Tyr231Cys)
n.948A>G
c.7607A>G (p.Tyr2536Cys)
c.7541A>G (p.Tyr2514Cys)
c.7604A>G (p.Tyr2535Cys)
c.7601A>G (p.Tyr2534Cys)
c.7547A>G (p.Tyr2516Cys)
c.7517A>G (p.Tyr2506Cys)
c.7472A>G (p.Tyr2491Cys)
c.7067A>G (p.Tyr2356Cys)
c.6425A>G (p.Tyr2142Cys)
c.3935A>G (p.Tyr1312Cys)
 gnomAD v4
10g.71800685A>TCA377159908CDH23c.7412A>T (p.Tyr2471Phe)
c.1345A>T (n.1345A>T)
c.1009A>T (n.1009A>T)
c.7427A>T (p.Tyr2476Phe)
c.692A>T (p.Tyr231Phe)
n.948A>T
c.7607A>T (p.Tyr2536Phe)
c.7541A>T (p.Tyr2514Phe)
c.7604A>T (p.Tyr2535Phe)
c.7601A>T (p.Tyr2534Phe)
c.7547A>T (p.Tyr2516Phe)
c.7517A>T (p.Tyr2506Phe)
c.7472A>T (p.Tyr2491Phe)
c.7067A>T (p.Tyr2356Phe)
c.6425A>T (p.Tyr2142Phe)
c.3935A>T (p.Tyr1312Phe)
10g.71800686T>ACA377159909CDH23c.7413T>A (p.Tyr2471Ter)
c.1346T>A (n.1346T>A)
c.1010T>A (n.1010T>A)
c.7428T>A (p.Tyr2476Ter)
c.693T>A (p.Tyr231Ter)
n.949T>A
c.7608T>A (p.Tyr2536Ter)
c.7542T>A (p.Tyr2514Ter)
c.7605T>A (p.Tyr2535Ter)
c.7602T>A (p.Tyr2534Ter)
c.7548T>A (p.Tyr2516Ter)
c.7518T>A (p.Tyr2506Ter)
c.7473T>A (p.Tyr2491Ter)
c.7068T>A (p.Tyr2356Ter)
c.6426T>A (p.Tyr2142Ter)
c.3936T>A (p.Tyr1312Ter)
10g.71800686T>CCA470062262CDH23c.7413T>C (p.Tyr2471=)
c.1346T>C (n.1346T>C)
c.1010T>C (n.1010T>C)
c.7428T>C (p.Tyr2476=)
c.693T>C (p.Tyr231=)
n.949T>C
c.7608T>C (p.Tyr2536=)
c.7542T>C (p.Tyr2514=)
c.7605T>C (p.Tyr2535=)
c.7602T>C (p.Tyr2534=)
c.7548T>C (p.Tyr2516=)
c.7518T>C (p.Tyr2506=)
c.7473T>C (p.Tyr2491=)
c.7068T>C (p.Tyr2356=)
c.6426T>C (p.Tyr2142=)
c.3936T>C (p.Tyr1312=)
 gnomAD v4
10g.71800686T>GCA377159910CDH23c.7413T>G (p.Tyr2471Ter)
c.1346T>G (n.1346T>G)
c.1010T>G (n.1010T>G)
c.7428T>G (p.Tyr2476Ter)
c.693T>G (p.Tyr231Ter)
n.949T>G
c.7608T>G (p.Tyr2536Ter)
c.7542T>G (p.Tyr2514Ter)
c.7605T>G (p.Tyr2535Ter)
c.7602T>G (p.Tyr2534Ter)
c.7548T>G (p.Tyr2516Ter)
c.7518T>G (p.Tyr2506Ter)
c.7473T>G (p.Tyr2491Ter)
c.7068T>G (p.Tyr2356Ter)
c.6426T>G (p.Tyr2142Ter)
c.3936T>G (p.Tyr1312Ter)
10g.71800687A>CCA377159913CDH23c.7414A>C (p.Ile2472Leu)
c.1347A>C (n.1347A>C)
c.1011A>C (n.1011A>C)
c.7429A>C (p.Ile2477Leu)
c.694A>C (p.Ile232Leu)
n.950A>C
c.7609A>C (p.Ile2537Leu)
c.7543A>C (p.Ile2515Leu)
c.7606A>C (p.Ile2536Leu)
c.7603A>C (p.Ile2535Leu)
c.7549A>C (p.Ile2517Leu)
c.7519A>C (p.Ile2507Leu)
c.7474A>C (p.Ile2492Leu)
c.7069A>C (p.Ile2357Leu)
c.6427A>C (p.Ile2143Leu)
c.3937A>C (p.Ile1313Leu)
10g.71800687A>GCA377159911CDH23c.7414A>G (p.Ile2472Val)
c.1347A>G (n.1347A>G)
c.1011A>G (n.1011A>G)
c.7429A>G (p.Ile2477Val)
c.694A>G (p.Ile232Val)
n.950A>G
c.7609A>G (p.Ile2537Val)
c.7543A>G (p.Ile2515Val)
c.7606A>G (p.Ile2536Val)
c.7603A>G (p.Ile2535Val)
c.7549A>G (p.Ile2517Val)
c.7519A>G (p.Ile2507Val)
c.7474A>G (p.Ile2492Val)
c.7069A>G (p.Ile2357Val)
c.6427A>G (p.Ile2143Val)
c.3937A>G (p.Ile1313Val)
10g.71800687A>TCA377159912CDH23c.7414A>T (p.Ile2472Phe)
c.1347A>T (n.1347A>T)
c.1011A>T (n.1011A>T)
c.7429A>T (p.Ile2477Phe)
c.694A>T (p.Ile232Phe)
n.950A>T
c.7609A>T (p.Ile2537Phe)
c.7543A>T (p.Ile2515Phe)
c.7606A>T (p.Ile2536Phe)
c.7603A>T (p.Ile2535Phe)
c.7549A>T (p.Ile2517Phe)
c.7519A>T (p.Ile2507Phe)
c.7474A>T (p.Ile2492Phe)
c.7069A>T (p.Ile2357Phe)
c.6427A>T (p.Ile2143Phe)
c.3937A>T (p.Ile1313Phe)
10g.71800688T>ACA377159914CDH23c.7415T>A (p.Ile2472Asn)
c.1348T>A (n.1348T>A)
c.1012T>A (n.1012T>A)
c.7430T>A (p.Ile2477Asn)
c.695T>A (p.Ile232Asn)
n.951T>A
c.7610T>A (p.Ile2537Asn)
c.7544T>A (p.Ile2515Asn)
c.7607T>A (p.Ile2536Asn)
c.7604T>A (p.Ile2535Asn)
c.7550T>A (p.Ile2517Asn)
c.7520T>A (p.Ile2507Asn)
c.7475T>A (p.Ile2492Asn)
c.7070T>A (p.Ile2357Asn)
c.6428T>A (p.Ile2143Asn)
c.3938T>A (p.Ile1313Asn)
 gnomAD v4
10g.71800688T>CCA377159915CDH23c.7415T>C (p.Ile2472Thr)
c.1348T>C (n.1348T>C)
c.1012T>C (n.1012T>C)
c.7430T>C (p.Ile2477Thr)
c.695T>C (p.Ile232Thr)
n.951T>C
c.7610T>C (p.Ile2537Thr)
c.7544T>C (p.Ile2515Thr)
c.7607T>C (p.Ile2536Thr)
c.7604T>C (p.Ile2535Thr)
c.7550T>C (p.Ile2517Thr)
c.7520T>C (p.Ile2507Thr)
c.7475T>C (p.Ile2492Thr)
c.7070T>C (p.Ile2357Thr)
c.6428T>C (p.Ile2143Thr)
c.3938T>C (p.Ile1313Thr)
 gnomAD v4
10g.71800688T>GCA377159916CDH23c.7415T>G (p.Ile2472Ser)
c.1348T>G (n.1348T>G)
c.1012T>G (n.1012T>G)
c.7430T>G (p.Ile2477Ser)
c.695T>G (p.Ile232Ser)
n.951T>G
c.7610T>G (p.Ile2537Ser)
c.7544T>G (p.Ile2515Ser)
c.7607T>G (p.Ile2536Ser)
c.7604T>G (p.Ile2535Ser)
c.7550T>G (p.Ile2517Ser)
c.7520T>G (p.Ile2507Ser)
c.7475T>G (p.Ile2492Ser)
c.7070T>G (p.Ile2357Ser)
c.6428T>G (p.Ile2143Ser)
c.3938T>G (p.Ile1313Ser)
10g.71800689C>ACA470062263CDH23c.7416C>A (p.Ile2472=)
c.1349C>A (n.1349C>A)
c.1013C>A (n.1013C>A)
c.7431C>A (p.Ile2477=)
c.696C>A (p.Ile232=)
n.952C>A
c.7611C>A (p.Ile2537=)
c.7545C>A (p.Ile2515=)
c.7608C>A (p.Ile2536=)
c.7605C>A (p.Ile2535=)
c.7551C>A (p.Ile2517=)
c.7521C>A (p.Ile2507=)
c.7476C>A (p.Ile2492=)
c.7071C>A (p.Ile2357=)
c.6429C>A (p.Ile2143=)
c.3939C>A (p.Ile1313=)
 ClinVar
10g.71800689C>GCA377159917CDH23c.7416C>G (p.Ile2472Met)
c.1349C>G (n.1349C>G)
c.1013C>G (n.1013C>G)
c.7431C>G (p.Ile2477Met)
c.696C>G (p.Ile232Met)
n.952C>G
c.7611C>G (p.Ile2537Met)
c.7545C>G (p.Ile2515Met)
c.7608C>G (p.Ile2536Met)
c.7605C>G (p.Ile2535Met)
c.7551C>G (p.Ile2517Met)
c.7521C>G (p.Ile2507Met)
c.7476C>G (p.Ile2492Met)
c.7071C>G (p.Ile2357Met)
c.6429C>G (p.Ile2143Met)
c.3939C>G (p.Ile1313Met)
 gnomAD v4
10g.71800689C>TCA470062264CDH23c.7416C>T (p.Ile2472=)
c.1349C>T (n.1349C>T)
c.1013C>T (n.1013C>T)
c.7431C>T (p.Ile2477=)
c.696C>T (p.Ile232=)
n.952C>T
c.7611C>T (p.Ile2537=)
c.7545C>T (p.Ile2515=)
c.7608C>T (p.Ile2536=)
c.7605C>T (p.Ile2535=)
c.7551C>T (p.Ile2517=)
c.7521C>T (p.Ile2507=)
c.7476C>T (p.Ile2492=)
c.7071C>T (p.Ile2357=)
c.6429C>T (p.Ile2143=)
c.3939C>T (p.Ile1313=)
10g.71800690C>ACA377159918CDH23c.7417C>A (p.Leu2473Met)
c.1350C>A (n.1350C>A)
c.1014C>A (n.1014C>A)
c.7432C>A (p.Leu2478Met)
c.697C>A (p.Leu233Met)
n.953C>A
c.7612C>A (p.Leu2538Met)
c.7546C>A (p.Leu2516Met)
c.7609C>A (p.Leu2537Met)
c.7606C>A (p.Leu2536Met)
c.7552C>A (p.Leu2518Met)
c.7522C>A (p.Leu2508Met)
c.7477C>A (p.Leu2493Met)
c.7072C>A (p.Leu2358Met)
c.6430C>A (p.Leu2144Met)
c.3940C>A (p.Leu1314Met)
10g.71800690C=CA1918879407CDH23c.7417C= (p.Leu2473=)
c.1350C= (n.1350C=)
c.1014C= (n.1014C=)
c.7432C= (p.Leu2478=)
c.697C= (p.Leu233=)
n.953C=
c.7612C= (p.Leu2538=)
c.7546C= (p.Leu2516=)
c.7609C= (p.Leu2537=)
c.7606C= (p.Leu2536=)
c.7552C= (p.Leu2518=)
c.7522C= (p.Leu2508=)
c.7477C= (p.Leu2493=)
c.7072C= (p.Leu2358=)
c.6430C= (p.Leu2144=)
c.3940C= (p.Leu1314=)
10g.71800690C>GCA377159919CDH23c.7417C>G (p.Leu2473Val)
c.1350C>G (n.1350C>G)
c.1014C>G (n.1014C>G)
c.7432C>G (p.Leu2478Val)
c.697C>G (p.Leu233Val)
n.953C>G
c.7612C>G (p.Leu2538Val)
c.7546C>G (p.Leu2516Val)
c.7609C>G (p.Leu2537Val)
c.7606C>G (p.Leu2536Val)
c.7552C>G (p.Leu2518Val)
c.7522C>G (p.Leu2508Val)
c.7477C>G (p.Leu2493Val)
c.7072C>G (p.Leu2358Val)
c.6430C>G (p.Leu2144Val)
c.3940C>G (p.Leu1314Val)
 dbSNP gnomAD v3 gnomAD v4
10g.71800690C>TCA470062265CDH23c.7417C>T (p.Leu2473=)
c.1350C>T (n.1350C>T)
c.1014C>T (n.1014C>T)
c.7432C>T (p.Leu2478=)
c.697C>T (p.Leu233=)
n.953C>T
c.7612C>T (p.Leu2538=)
c.7546C>T (p.Leu2516=)
c.7609C>T (p.Leu2537=)
c.7606C>T (p.Leu2536=)
c.7552C>T (p.Leu2518=)
c.7522C>T (p.Leu2508=)
c.7477C>T (p.Leu2493=)
c.7072C>T (p.Leu2358=)
c.6430C>T (p.Leu2144=)
c.3940C>T (p.Leu1314=)
 gnomAD v4
10g.71800691T>ACA377159920CDH23c.7418T>A (p.Leu2473Gln)
c.1351T>A (n.1351T>A)
c.1015T>A (n.1015T>A)
c.7433T>A (p.Leu2478Gln)
c.698T>A (p.Leu233Gln)
n.954T>A
c.7613T>A (p.Leu2538Gln)
c.7547T>A (p.Leu2516Gln)
c.7610T>A (p.Leu2537Gln)
c.7607T>A (p.Leu2536Gln)
c.7553T>A (p.Leu2518Gln)
c.7523T>A (p.Leu2508Gln)
c.7478T>A (p.Leu2493Gln)
c.7073T>A (p.Leu2358Gln)
c.6431T>A (p.Leu2144Gln)
c.3941T>A (p.Leu1314Gln)
10g.71800691T>CCA377159921CDH23c.7418T>C (p.Leu2473Pro)
c.1351T>C (n.1351T>C)
c.1015T>C (n.1015T>C)
c.7433T>C (p.Leu2478Pro)
c.698T>C (p.Leu233Pro)
n.954T>C
c.7613T>C (p.Leu2538Pro)
c.7547T>C (p.Leu2516Pro)
c.7610T>C (p.Leu2537Pro)
c.7607T>C (p.Leu2536Pro)
c.7553T>C (p.Leu2518Pro)
c.7523T>C (p.Leu2508Pro)
c.7478T>C (p.Leu2493Pro)
c.7073T>C (p.Leu2358Pro)
c.6431T>C (p.Leu2144Pro)
c.3941T>C (p.Leu1314Pro)
 dbSNP
10g.71800691T>GCA377159922CDH23c.7418T>G (p.Leu2473Arg)
c.1351T>G (n.1351T>G)
c.1015T>G (n.1015T>G)
c.7433T>G (p.Leu2478Arg)
c.698T>G (p.Leu233Arg)
n.954T>G
c.7613T>G (p.Leu2538Arg)
c.7547T>G (p.Leu2516Arg)
c.7610T>G (p.Leu2537Arg)
c.7607T>G (p.Leu2536Arg)
c.7553T>G (p.Leu2518Arg)
c.7523T>G (p.Leu2508Arg)
c.7478T>G (p.Leu2493Arg)
c.7073T>G (p.Leu2358Arg)
c.6431T>G (p.Leu2144Arg)
c.3941T>G (p.Leu1314Arg)
10g.71800691T=CA1918879408CDH23c.7418T= (p.Leu2473=)
c.1351T= (n.1351T=)
c.1015T= (n.1015T=)
c.7433T= (p.Leu2478=)
c.698T= (p.Leu233=)
n.954T=
c.7613T= (p.Leu2538=)
c.7547T= (p.Leu2516=)
c.7610T= (p.Leu2537=)
c.7607T= (p.Leu2536=)
c.7553T= (p.Leu2518=)
c.7523T= (p.Leu2508=)
c.7478T= (p.Leu2493=)
c.7073T= (p.Leu2358=)
c.6431T= (p.Leu2144=)
c.3941T= (p.Leu1314=)
10g.71800692G>ACA470062268CDH23c.7419G>A (p.Leu2473=)
c.1352G>A (n.1352G>A)
c.1016G>A (n.1016G>A)
c.7434G>A (p.Leu2478=)
c.699G>A (p.Leu233=)
n.955G>A
c.7614G>A (p.Leu2538=)
c.7548G>A (p.Leu2516=)
c.7611G>A (p.Leu2537=)
c.7608G>A (p.Leu2536=)
c.7554G>A (p.Leu2518=)
c.7524G>A (p.Leu2508=)
c.7479G>A (p.Leu2493=)
c.7074G>A (p.Leu2358=)
c.6432G>A (p.Leu2144=)
c.3942G>A (p.Leu1314=)
10g.71800692G>CCA470062266CDH23c.7419G>C (p.Leu2473=)
c.1352G>C (n.1352G>C)
c.1016G>C (n.1016G>C)
c.7434G>C (p.Leu2478=)
c.699G>C (p.Leu233=)
n.955G>C
c.7614G>C (p.Leu2538=)
c.7548G>C (p.Leu2516=)
c.7611G>C (p.Leu2537=)
c.7608G>C (p.Leu2536=)
c.7554G>C (p.Leu2518=)
c.7524G>C (p.Leu2508=)
c.7479G>C (p.Leu2493=)
c.7074G>C (p.Leu2358=)
c.6432G>C (p.Leu2144=)
c.3942G>C (p.Leu1314=)
10g.71800692G>TCA470062267CDH23c.7419G>T (p.Leu2473=)
c.1352G>T (n.1352G>T)
c.1016G>T (n.1016G>T)
c.7434G>T (p.Leu2478=)
c.699G>T (p.Leu233=)
n.955G>T
c.7614G>T (p.Leu2538=)
c.7548G>T (p.Leu2516=)
c.7611G>T (p.Leu2537=)
c.7608G>T (p.Leu2536=)
c.7554G>T (p.Leu2518=)
c.7524G>T (p.Leu2508=)
c.7479G>T (p.Leu2493=)
c.7074G>T (p.Leu2358=)
c.6432G>T (p.Leu2144=)
c.3942G>T (p.Leu1314=)
10g.71800693A>CCA377159923CDH23c.7420A>C (p.Thr2474Pro)
c.1353A>C (n.1353A>C)
c.1017A>C (n.1017A>C)
c.7435A>C (p.Thr2479Pro)
c.700A>C (p.Thr234Pro)
n.956A>C
c.7615A>C (p.Thr2539Pro)
c.7549A>C (p.Thr2517Pro)
c.7612A>C (p.Thr2538Pro)
c.7609A>C (p.Thr2537Pro)
c.7555A>C (p.Thr2519Pro)
c.7525A>C (p.Thr2509Pro)
c.7480A>C (p.Thr2494Pro)
c.7075A>C (p.Thr2359Pro)
c.6433A>C (p.Thr2145Pro)
c.3943A>C (p.Thr1315Pro)
10g.71800693A>GCA377159924CDH23c.7420A>G (p.Thr2474Ala)
c.1353A>G (n.1353A>G)
c.1017A>G (n.1017A>G)
c.7435A>G (p.Thr2479Ala)
c.700A>G (p.Thr234Ala)
n.956A>G
c.7615A>G (p.Thr2539Ala)
c.7549A>G (p.Thr2517Ala)
c.7612A>G (p.Thr2538Ala)
c.7609A>G (p.Thr2537Ala)
c.7555A>G (p.Thr2519Ala)
c.7525A>G (p.Thr2509Ala)
c.7480A>G (p.Thr2494Ala)
c.7075A>G (p.Thr2359Ala)
c.6433A>G (p.Thr2145Ala)
c.3943A>G (p.Thr1315Ala)
10g.71800693A>TCA377159925CDH23c.7420A>T (p.Thr2474Ser)
c.1353A>T (n.1353A>T)
c.1017A>T (n.1017A>T)
c.7435A>T (p.Thr2479Ser)
c.700A>T (p.Thr234Ser)
n.956A>T
c.7615A>T (p.Thr2539Ser)
c.7549A>T (p.Thr2517Ser)
c.7612A>T (p.Thr2538Ser)
c.7609A>T (p.Thr2537Ser)
c.7555A>T (p.Thr2519Ser)
c.7525A>T (p.Thr2509Ser)
c.7480A>T (p.Thr2494Ser)
c.7075A>T (p.Thr2359Ser)
c.6433A>T (p.Thr2145Ser)
c.3943A>T (p.Thr1315Ser)
10g.71800694C>ACA377159926CDH23c.7421C>A (p.Thr2474Asn)
c.1354C>A (n.1354C>A)
c.1018C>A (n.1018C>A)
c.7436C>A (p.Thr2479Asn)
c.701C>A (p.Thr234Asn)
n.957C>A
c.7616C>A (p.Thr2539Asn)
c.7550C>A (p.Thr2517Asn)
c.7613C>A (p.Thr2538Asn)
c.7610C>A (p.Thr2537Asn)
c.7556C>A (p.Thr2519Asn)
c.7526C>A (p.Thr2509Asn)
c.7481C>A (p.Thr2494Asn)
c.7076C>A (p.Thr2359Asn)
c.6434C>A (p.Thr2145Asn)
c.3944C>A (p.Thr1315Asn)
10g.71800694C=CA1918879409CDH23c.7421C= (p.Thr2474=)
c.1354C= (n.1354C=)
c.1018C= (n.1018C=)
c.7436C= (p.Thr2479=)
c.701C= (p.Thr234=)
n.957C=
c.7616C= (p.Thr2539=)
c.7550C= (p.Thr2517=)
c.7613C= (p.Thr2538=)
c.7610C= (p.Thr2537=)
c.7556C= (p.Thr2519=)
c.7526C= (p.Thr2509=)
c.7481C= (p.Thr2494=)
c.7076C= (p.Thr2359=)
c.6434C= (p.Thr2145=)
c.3944C= (p.Thr1315=)
10g.71800694C>GCA377159927CDH23c.7421C>G (p.Thr2474Ser)
c.1354C>G (n.1354C>G)
c.1018C>G (n.1018C>G)
c.7436C>G (p.Thr2479Ser)
c.701C>G (p.Thr234Ser)
n.957C>G
c.7616C>G (p.Thr2539Ser)
c.7550C>G (p.Thr2517Ser)
c.7613C>G (p.Thr2538Ser)
c.7610C>G (p.Thr2537Ser)
c.7556C>G (p.Thr2519Ser)
c.7526C>G (p.Thr2509Ser)
c.7481C>G (p.Thr2494Ser)
c.7076C>G (p.Thr2359Ser)
c.6434C>G (p.Thr2145Ser)
c.3944C>G (p.Thr1315Ser)
10g.71800694C>TCA5546343CDH23c.7421C>T (p.Thr2474Ile)
c.1354C>T (n.1354C>T)
c.1018C>T (n.1018C>T)
c.7436C>T (p.Thr2479Ile)
c.701C>T (p.Thr234Ile)
n.957C>T
c.7616C>T (p.Thr2539Ile)
c.7550C>T (p.Thr2517Ile)
c.7613C>T (p.Thr2538Ile)
c.7610C>T (p.Thr2537Ile)
c.7556C>T (p.Thr2519Ile)
c.7526C>T (p.Thr2509Ile)
c.7481C>T (p.Thr2494Ile)
c.7076C>T (p.Thr2359Ile)
c.6434C>T (p.Thr2145Ile)
c.3944C>T (p.Thr1315Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71800695T>ACA470062269CDH23c.7422T>A (p.Thr2474=)
c.1355T>A (n.1355T>A)
c.1019T>A (n.1019T>A)
c.7437T>A (p.Thr2479=)
c.702T>A (p.Thr234=)
n.958T>A
c.7617T>A (p.Thr2539=)
c.7551T>A (p.Thr2517=)
c.7614T>A (p.Thr2538=)
c.7611T>A (p.Thr2537=)
c.7557T>A (p.Thr2519=)
c.7527T>A (p.Thr2509=)
c.7482T>A (p.Thr2494=)
c.7077T>A (p.Thr2359=)
c.6435T>A (p.Thr2145=)
c.3945T>A (p.Thr1315=)
10g.71800695T>CCA470062270CDH23c.7422T>C (p.Thr2474=)
c.1355T>C (n.1355T>C)
c.1019T>C (n.1019T>C)
c.7437T>C (p.Thr2479=)
c.702T>C (p.Thr234=)
n.958T>C
c.7617T>C (p.Thr2539=)
c.7551T>C (p.Thr2517=)
c.7614T>C (p.Thr2538=)
c.7611T>C (p.Thr2537=)
c.7557T>C (p.Thr2519=)
c.7527T>C (p.Thr2509=)
c.7482T>C (p.Thr2494=)
c.7077T>C (p.Thr2359=)
c.6435T>C (p.Thr2145=)
c.3945T>C (p.Thr1315=)
 dbSNP gnomAD v4
10g.71800695T>GCA470062271CDH23c.7422T>G (p.Thr2474=)
c.1355T>G (n.1355T>G)
c.1019T>G (n.1019T>G)
c.7437T>G (p.Thr2479=)
c.702T>G (p.Thr234=)
n.958T>G
c.7617T>G (p.Thr2539=)
c.7551T>G (p.Thr2517=)
c.7614T>G (p.Thr2538=)
c.7611T>G (p.Thr2537=)
c.7557T>G (p.Thr2519=)
c.7527T>G (p.Thr2509=)
c.7482T>G (p.Thr2494=)
c.7077T>G (p.Thr2359=)
c.6435T>G (p.Thr2145=)
c.3945T>G (p.Thr1315=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.71800695T=CA1918879410CDH23c.7422T= (p.Thr2474=)
c.1355T= (n.1355T=)
c.1019T= (n.1019T=)
c.7437T= (p.Thr2479=)
c.702T= (p.Thr234=)
n.958T=
c.7617T= (p.Thr2539=)
c.7551T= (p.Thr2517=)
c.7614T= (p.Thr2538=)
c.7611T= (p.Thr2537=)
c.7557T= (p.Thr2519=)
c.7527T= (p.Thr2509=)
c.7482T= (p.Thr2494=)
c.7077T= (p.Thr2359=)
c.6435T= (p.Thr2145=)
c.3945T= (p.Thr1315=)
10g.71800696G>ACA377159929CDH23c.7423G>A (p.Ala2475Thr)
c.1356G>A (n.1356G>A)
c.1020G>A (n.1020G>A)
c.7438G>A (p.Ala2480Thr)
c.703G>A (p.Ala235Thr)
n.959G>A
c.7618G>A (p.Ala2540Thr)
c.7552G>A (p.Ala2518Thr)
c.7615G>A (p.Ala2539Thr)
c.7612G>A (p.Ala2538Thr)
c.7558G>A (p.Ala2520Thr)
c.7528G>A (p.Ala2510Thr)
c.7483G>A (p.Ala2495Thr)
c.7078G>A (p.Ala2360Thr)
c.6436G>A (p.Ala2146Thr)
c.3946G>A (p.Ala1316Thr)
 gnomAD v4
10g.71800696G>CCA377159928CDH23c.7423G>C (p.Ala2475Pro)
c.1356G>C (n.1356G>C)
c.1020G>C (n.1020G>C)
c.7438G>C (p.Ala2480Pro)
c.703G>C (p.Ala235Pro)
n.959G>C
c.7618G>C (p.Ala2540Pro)
c.7552G>C (p.Ala2518Pro)
c.7615G>C (p.Ala2539Pro)
c.7612G>C (p.Ala2538Pro)
c.7558G>C (p.Ala2520Pro)
c.7528G>C (p.Ala2510Pro)
c.7483G>C (p.Ala2495Pro)
c.7078G>C (p.Ala2360Pro)
c.6436G>C (p.Ala2146Pro)
c.3946G>C (p.Ala1316Pro)
10g.71800696G>TCA377159930CDH23c.7423G>T (p.Ala2475Ser)
c.1356G>T (n.1356G>T)
c.1020G>T (n.1020G>T)
c.7438G>T (p.Ala2480Ser)
c.703G>T (p.Ala235Ser)
n.959G>T
c.7618G>T (p.Ala2540Ser)
c.7552G>T (p.Ala2518Ser)
c.7615G>T (p.Ala2539Ser)
c.7612G>T (p.Ala2538Ser)
c.7558G>T (p.Ala2520Ser)
c.7528G>T (p.Ala2510Ser)
c.7483G>T (p.Ala2495Ser)
c.7078G>T (p.Ala2360Ser)
c.6436G>T (p.Ala2146Ser)
c.3946G>T (p.Ala1316Ser)
 COSMIC
10g.71800697C>ACA377159931CDH23c.7424C>A (p.Ala2475Asp)
c.1357C>A (n.1357C>A)
c.1021C>A (n.1021C>A)
c.7439C>A (p.Ala2480Asp)
c.704C>A (p.Ala235Asp)
n.960C>A
c.7619C>A (p.Ala2540Asp)
c.7553C>A (p.Ala2518Asp)
c.7616C>A (p.Ala2539Asp)
c.7613C>A (p.Ala2538Asp)
c.7559C>A (p.Ala2520Asp)
c.7529C>A (p.Ala2510Asp)
c.7484C>A (p.Ala2495Asp)
c.7079C>A (p.Ala2360Asp)
c.6437C>A (p.Ala2146Asp)
c.3947C>A (p.Ala1316Asp)
10g.71800697C=CA1918879411CDH23c.7424C= (p.Ala2475=)
c.1357C= (n.1357C=)
c.1021C= (n.1021C=)
c.7439C= (p.Ala2480=)
c.704C= (p.Ala235=)
n.960C=
c.7619C= (p.Ala2540=)
c.7553C= (p.Ala2518=)
c.7616C= (p.Ala2539=)
c.7613C= (p.Ala2538=)
c.7559C= (p.Ala2520=)
c.7529C= (p.Ala2510=)
c.7484C= (p.Ala2495=)
c.7079C= (p.Ala2360=)
c.6437C= (p.Ala2146=)
c.3947C= (p.Ala1316=)
10g.71800697C>GCA377159932CDH23c.7424C>G (p.Ala2475Gly)
c.1357C>G (n.1357C>G)
c.1021C>G (n.1021C>G)
c.7439C>G (p.Ala2480Gly)
c.704C>G (p.Ala235Gly)
n.960C>G
c.7619C>G (p.Ala2540Gly)
c.7553C>G (p.Ala2518Gly)
c.7616C>G (p.Ala2539Gly)
c.7613C>G (p.Ala2538Gly)
c.7559C>G (p.Ala2520Gly)
c.7529C>G (p.Ala2510Gly)
c.7484C>G (p.Ala2495Gly)
c.7079C>G (p.Ala2360Gly)
c.6437C>G (p.Ala2146Gly)
c.3947C>G (p.Ala1316Gly)
10g.71800697C>TCA5546344CDH23c.7424C>T (p.Ala2475Val)
c.1357C>T (n.1357C>T)
c.1021C>T (n.1021C>T)
c.7439C>T (p.Ala2480Val)
c.704C>T (p.Ala235Val)
n.960C>T
c.7619C>T (p.Ala2540Val)
c.7553C>T (p.Ala2518Val)
c.7616C>T (p.Ala2539Val)
c.7613C>T (p.Ala2538Val)
c.7559C>T (p.Ala2520Val)
c.7529C>T (p.Ala2510Val)
c.7484C>T (p.Ala2495Val)
c.7079C>T (p.Ala2360Val)
c.6437C>T (p.Ala2146Val)
c.3947C>T (p.Ala1316Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71800698C>ACA470062272CDH23c.7425C>A (p.Ala2475=)
c.1358C>A (n.1358C>A)
c.1022C>A (n.1022C>A)
c.7440C>A (p.Ala2480=)
c.705C>A (p.Ala235=)
n.961C>A
c.7620C>A (p.Ala2540=)
c.7554C>A (p.Ala2518=)
c.7617C>A (p.Ala2539=)
c.7614C>A (p.Ala2538=)
c.7560C>A (p.Ala2520=)
c.7530C>A (p.Ala2510=)
c.7485C>A (p.Ala2495=)
c.7080C>A (p.Ala2360=)
c.6438C>A (p.Ala2146=)
c.3948C>A (p.Ala1316=)
10g.71800698C>GCA470062273CDH23c.7425C>G (p.Ala2475=)
c.1358C>G (n.1358C>G)
c.1022C>G (n.1022C>G)
c.7440C>G (p.Ala2480=)
c.705C>G (p.Ala235=)
n.961C>G
c.7620C>G (p.Ala2540=)
c.7554C>G (p.Ala2518=)
c.7617C>G (p.Ala2539=)
c.7614C>G (p.Ala2538=)
c.7560C>G (p.Ala2520=)
c.7530C>G (p.Ala2510=)
c.7485C>G (p.Ala2495=)
c.7080C>G (p.Ala2360=)
c.6438C>G (p.Ala2146=)
c.3948C>G (p.Ala1316=)
10g.71800698C>TCA470062274CDH23c.7425C>T (p.Ala2475=)
c.1358C>T (n.1358C>T)
c.1022C>T (n.1022C>T)
c.7440C>T (p.Ala2480=)
c.705C>T (p.Ala235=)
n.961C>T
c.7620C>T (p.Ala2540=)
c.7554C>T (p.Ala2518=)
c.7617C>T (p.Ala2539=)
c.7614C>T (p.Ala2538=)
c.7560C>T (p.Ala2520=)
c.7530C>T (p.Ala2510=)
c.7485C>T (p.Ala2495=)
c.7080C>T (p.Ala2360=)
c.6438C>T (p.Ala2146=)
c.3948C>T (p.Ala1316=)
10g.71800699T>ACA377159933CDH23c.7426T>A (p.Leu2476Met)
c.1359T>A (n.1359T>A)
c.1023T>A (n.1023T>A)
c.7441T>A (p.Leu2481Met)
c.706T>A (p.Leu236Met)
n.962T>A
c.7621T>A (p.Leu2541Met)
c.7555T>A (p.Leu2519Met)
c.7618T>A (p.Leu2540Met)
c.7615T>A (p.Leu2539Met)
c.7561T>A (p.Leu2521Met)
c.7531T>A (p.Leu2511Met)
c.7486T>A (p.Leu2496Met)
c.7081T>A (p.Leu2361Met)
c.6439T>A (p.Leu2147Met)
c.3949T>A (p.Leu1317Met)
 ClinVar dbSNP
10g.71800699T>CCA470062275CDH23c.7426T>C (p.Leu2476=)
c.1359T>C (n.1359T>C)
c.1023T>C (n.1023T>C)
c.7441T>C (p.Leu2481=)
c.706T>C (p.Leu236=)
n.962T>C
c.7621T>C (p.Leu2541=)
c.7555T>C (p.Leu2519=)
c.7618T>C (p.Leu2540=)
c.7615T>C (p.Leu2539=)
c.7561T>C (p.Leu2521=)
c.7531T>C (p.Leu2511=)
c.7486T>C (p.Leu2496=)
c.7081T>C (p.Leu2361=)
c.6439T>C (p.Leu2147=)
c.3949T>C (p.Leu1317=)
10g.71800699T>GCA377159934CDH23c.7426T>G (p.Leu2476Val)
c.1359T>G (n.1359T>G)
c.1023T>G (n.1023T>G)
c.7441T>G (p.Leu2481Val)
c.706T>G (p.Leu236Val)
n.962T>G
c.7621T>G (p.Leu2541Val)
c.7555T>G (p.Leu2519Val)
c.7618T>G (p.Leu2540Val)
c.7615T>G (p.Leu2539Val)
c.7561T>G (p.Leu2521Val)
c.7531T>G (p.Leu2511Val)
c.7486T>G (p.Leu2496Val)
c.7081T>G (p.Leu2361Val)
c.6439T>G (p.Leu2147Val)
c.3949T>G (p.Leu1317Val)
10g.71800700T>ACA377159935CDH23c.7427T>A (p.Leu2476Ter)
c.1360T>A (n.1360T>A)
c.1024T>A (n.1024T>A)
c.7442T>A (p.Leu2481Ter)
c.707T>A (p.Leu236Ter)
n.963T>A
c.7622T>A (p.Leu2541Ter)
c.7556T>A (p.Leu2519Ter)
c.7619T>A (p.Leu2540Ter)
c.7616T>A (p.Leu2539Ter)
c.7562T>A (p.Leu2521Ter)
c.7532T>A (p.Leu2511Ter)
c.7487T>A (p.Leu2496Ter)
c.7082T>A (p.Leu2361Ter)
c.6440T>A (p.Leu2147Ter)
c.3950T>A (p.Leu1317Ter)
 dbSNP
10g.71800700T>CCA377159936CDH23c.7427T>C (p.Leu2476Ser)
c.1360T>C (n.1360T>C)
c.1024T>C (n.1024T>C)
c.7442T>C (p.Leu2481Ser)
c.707T>C (p.Leu236Ser)
n.963T>C
c.7622T>C (p.Leu2541Ser)
c.7556T>C (p.Leu2519Ser)
c.7619T>C (p.Leu2540Ser)
c.7616T>C (p.Leu2539Ser)
c.7562T>C (p.Leu2521Ser)
c.7532T>C (p.Leu2511Ser)
c.7487T>C (p.Leu2496Ser)
c.7082T>C (p.Leu2361Ser)
c.6440T>C (p.Leu2147Ser)
c.3950T>C (p.Leu1317Ser)
 gnomAD v4
10g.71800700T>GCA377159937CDH23c.7427T>G (p.Leu2476Trp)
c.1360T>G (n.1360T>G)
c.1024T>G (n.1024T>G)
c.7442T>G (p.Leu2481Trp)
c.707T>G (p.Leu236Trp)
n.963T>G
c.7622T>G (p.Leu2541Trp)
c.7556T>G (p.Leu2519Trp)
c.7619T>G (p.Leu2540Trp)
c.7616T>G (p.Leu2539Trp)
c.7562T>G (p.Leu2521Trp)
c.7532T>G (p.Leu2511Trp)
c.7487T>G (p.Leu2496Trp)
c.7082T>G (p.Leu2361Trp)
c.6440T>G (p.Leu2147Trp)
c.3950T>G (p.Leu1317Trp)
10g.71800701G>ACA470062276CDH23c.7428G>A (p.Leu2476=)
c.1361G>A (n.1361G>A)
c.1025G>A (n.1025G>A)
c.7443G>A (p.Leu2481=)
c.708G>A (p.Leu236=)
n.964G>A
c.7623G>A (p.Leu2541=)
c.7557G>A (p.Leu2519=)
c.7620G>A (p.Leu2540=)
c.7617G>A (p.Leu2539=)
c.7563G>A (p.Leu2521=)
c.7533G>A (p.Leu2511=)
c.7488G>A (p.Leu2496=)
c.7083G>A (p.Leu2361=)
c.6441G>A (p.Leu2147=)
c.3951G>A (p.Leu1317=)
 ClinVar
10g.71800701G>CCA377159938CDH23c.7428G>C (p.Leu2476Phe)
c.1361G>C (n.1361G>C)
c.1025G>C (n.1025G>C)
c.7443G>C (p.Leu2481Phe)
c.708G>C (p.Leu236Phe)
n.964G>C
c.7623G>C (p.Leu2541Phe)
c.7557G>C (p.Leu2519Phe)
c.7620G>C (p.Leu2540Phe)
c.7617G>C (p.Leu2539Phe)
c.7563G>C (p.Leu2521Phe)
c.7533G>C (p.Leu2511Phe)
c.7488G>C (p.Leu2496Phe)
c.7083G>C (p.Leu2361Phe)
c.6441G>C (p.Leu2147Phe)
c.3951G>C (p.Leu1317Phe)
10g.71800701G>TCA377159939CDH23c.7428G>T (p.Leu2476Phe)
c.1361G>T (n.1361G>T)
c.1025G>T (n.1025G>T)
c.7443G>T (p.Leu2481Phe)
c.708G>T (p.Leu236Phe)
n.964G>T
c.7623G>T (p.Leu2541Phe)
c.7557G>T (p.Leu2519Phe)
c.7620G>T (p.Leu2540Phe)
c.7617G>T (p.Leu2539Phe)
c.7563G>T (p.Leu2521Phe)
c.7533G>T (p.Leu2511Phe)
c.7488G>T (p.Leu2496Phe)
c.7083G>T (p.Leu2361Phe)
c.6441G>T (p.Leu2147Phe)
c.3951G>T (p.Leu1317Phe)
10g.71800702G>ACA377159940CDH23c.7429G>A (p.Ala2477Thr)
c.1362G>A (n.1362G>A)
c.1026G>A (n.1026G>A)
c.7444G>A (p.Ala2482Thr)
c.709G>A (p.Ala237Thr)
n.965G>A
c.7624G>A (p.Ala2542Thr)
c.7558G>A (p.Ala2520Thr)
c.7621G>A (p.Ala2541Thr)
c.7618G>A (p.Ala2540Thr)
c.7564G>A (p.Ala2522Thr)
c.7534G>A (p.Ala2512Thr)
c.7489G>A (p.Ala2497Thr)
c.7084G>A (p.Ala2362Thr)
c.6442G>A (p.Ala2148Thr)
c.3952G>A (p.Ala1318Thr)
10g.71800702G>CCA377159941CDH23c.7429G>C (p.Ala2477Pro)
c.1362G>C (n.1362G>C)
c.1026G>C (n.1026G>C)
c.7444G>C (p.Ala2482Pro)
c.709G>C (p.Ala237Pro)
n.965G>C
c.7624G>C (p.Ala2542Pro)
c.7558G>C (p.Ala2520Pro)
c.7621G>C (p.Ala2541Pro)
c.7618G>C (p.Ala2540Pro)
c.7564G>C (p.Ala2522Pro)
c.7534G>C (p.Ala2512Pro)
c.7489G>C (p.Ala2497Pro)
c.7084G>C (p.Ala2362Pro)
c.6442G>C (p.Ala2148Pro)
c.3952G>C (p.Ala1318Pro)
10g.71800702G>TCA377159942CDH23c.7429G>T (p.Ala2477Ser)
c.1362G>T (n.1362G>T)
c.1026G>T (n.1026G>T)
c.7444G>T (p.Ala2482Ser)
c.709G>T (p.Ala237Ser)
n.965G>T
c.7624G>T (p.Ala2542Ser)
c.7558G>T (p.Ala2520Ser)
c.7621G>T (p.Ala2541Ser)
c.7618G>T (p.Ala2540Ser)
c.7564G>T (p.Ala2522Ser)
c.7534G>T (p.Ala2512Ser)
c.7489G>T (p.Ala2497Ser)
c.7084G>T (p.Ala2362Ser)
c.6442G>T (p.Ala2148Ser)
c.3952G>T (p.Ala1318Ser)
10g.71800703C>ACA377159945CDH23c.7430C>A (p.Ala2477Asp)
c.1363C>A (n.1363C>A)
c.1027C>A (n.1027C>A)
c.7445C>A (p.Ala2482Asp)
c.710C>A (p.Ala237Asp)
n.966C>A
c.7625C>A (p.Ala2542Asp)
c.7559C>A (p.Ala2520Asp)
c.7622C>A (p.Ala2541Asp)
c.7619C>A (p.Ala2540Asp)
c.7565C>A (p.Ala2522Asp)
c.7535C>A (p.Ala2512Asp)
c.7490C>A (p.Ala2497Asp)
c.7085C>A (p.Ala2362Asp)
c.6443C>A (p.Ala2148Asp)
c.3953C>A (p.Ala1318Asp)
10g.71800703C>GCA377159943CDH23c.7430C>G (p.Ala2477Gly)
c.1363C>G (n.1363C>G)
c.1027C>G (n.1027C>G)
c.7445C>G (p.Ala2482Gly)
c.710C>G (p.Ala237Gly)
n.966C>G
c.7625C>G (p.Ala2542Gly)
c.7559C>G (p.Ala2520Gly)
c.7622C>G (p.Ala2541Gly)
c.7619C>G (p.Ala2540Gly)
c.7565C>G (p.Ala2522Gly)
c.7535C>G (p.Ala2512Gly)
c.7490C>G (p.Ala2497Gly)
c.7085C>G (p.Ala2362Gly)
c.6443C>G (p.Ala2148Gly)
c.3953C>G (p.Ala1318Gly)
10g.71800703C>TCA377159944CDH23c.7430C>T (p.Ala2477Val)
c.1363C>T (n.1363C>T)
c.1027C>T (n.1027C>T)
c.7445C>T (p.Ala2482Val)
c.710C>T (p.Ala237Val)
n.966C>T
c.7625C>T (p.Ala2542Val)
c.7559C>T (p.Ala2520Val)
c.7622C>T (p.Ala2541Val)
c.7619C>T (p.Ala2540Val)
c.7565C>T (p.Ala2522Val)
c.7535C>T (p.Ala2512Val)
c.7490C>T (p.Ala2497Val)
c.7085C>T (p.Ala2362Val)
c.6443C>T (p.Ala2148Val)
c.3953C>T (p.Ala1318Val)
 gnomAD v4
10g.71800704C>ACA470062277CDH23c.7431C>A (p.Ala2477=)
c.1364C>A (n.1364C>A)
c.1028C>A (n.1028C>A)
c.7446C>A (p.Ala2482=)
c.711C>A (p.Ala237=)
n.967C>A
c.7626C>A (p.Ala2542=)
c.7560C>A (p.Ala2520=)
c.7623C>A (p.Ala2541=)
c.7620C>A (p.Ala2540=)
c.7566C>A (p.Ala2522=)
c.7536C>A (p.Ala2512=)
c.7491C>A (p.Ala2497=)
c.7086C>A (p.Ala2362=)
c.6444C>A (p.Ala2148=)
c.3954C>A (p.Ala1318=)
 COSMIC
10g.71800704C>GCA470062278CDH23c.7431C>G (p.Ala2477=)
c.1364C>G (n.1364C>G)
c.1028C>G (n.1028C>G)
c.7446C>G (p.Ala2482=)
c.711C>G (p.Ala237=)
n.967C>G
c.7626C>G (p.Ala2542=)
c.7560C>G (p.Ala2520=)
c.7623C>G (p.Ala2541=)
c.7620C>G (p.Ala2540=)
c.7566C>G (p.Ala2522=)
c.7536C>G (p.Ala2512=)
c.7491C>G (p.Ala2497=)
c.7086C>G (p.Ala2362=)
c.6444C>G (p.Ala2148=)
c.3954C>G (p.Ala1318=)
10g.71800704C>TCA470062279CDH23c.7431C>T (p.Ala2477=)
c.1364C>T (n.1364C>T)
c.1028C>T (n.1028C>T)
c.7446C>T (p.Ala2482=)
c.711C>T (p.Ala237=)
n.967C>T
c.7626C>T (p.Ala2542=)
c.7560C>T (p.Ala2520=)
c.7623C>T (p.Ala2541=)
c.7620C>T (p.Ala2540=)
c.7566C>T (p.Ala2522=)
c.7536C>T (p.Ala2512=)
c.7491C>T (p.Ala2497=)
c.7086C>T (p.Ala2362=)
c.6444C>T (p.Ala2148=)
c.3954C>T (p.Ala1318=)
10g.71800705A>CCA377159946CDH23c.7432A>C (p.Lys2478Gln)
c.1365A>C (n.1365A>C)
c.1029A>C (n.1029A>C)
c.7447A>C (p.Lys2483Gln)
c.712A>C (p.Lys238Gln)
n.968A>C
c.7627A>C (p.Lys2543Gln)
c.7561A>C (p.Lys2521Gln)
c.7624A>C (p.Lys2542Gln)
c.7621A>C (p.Lys2541Gln)
c.7567A>C (p.Lys2523Gln)
c.7537A>C (p.Lys2513Gln)
c.7492A>C (p.Lys2498Gln)
c.7087A>C (p.Lys2363Gln)
c.6445A>C (p.Lys2149Gln)
c.3955A>C (p.Lys1319Gln)
10g.71800705A>GCA377159947CDH23c.7432A>G (p.Lys2478Glu)
c.1365A>G (n.1365A>G)
c.1029A>G (n.1029A>G)
c.7447A>G (p.Lys2483Glu)
c.712A>G (p.Lys238Glu)
n.968A>G
c.7627A>G (p.Lys2543Glu)
c.7561A>G (p.Lys2521Glu)
c.7624A>G (p.Lys2542Glu)
c.7621A>G (p.Lys2541Glu)
c.7567A>G (p.Lys2523Glu)
c.7537A>G (p.Lys2513Glu)
c.7492A>G (p.Lys2498Glu)
c.7087A>G (p.Lys2363Glu)
c.6445A>G (p.Lys2149Glu)
c.3955A>G (p.Lys1319Glu)
10g.71800705A>TCA377159948CDH23c.7432A>T (p.Lys2478Ter)
c.1365A>T (n.1365A>T)
c.1029A>T (n.1029A>T)
c.7447A>T (p.Lys2483Ter)
c.712A>T (p.Lys238Ter)
n.968A>T
c.7627A>T (p.Lys2543Ter)
c.7561A>T (p.Lys2521Ter)
c.7624A>T (p.Lys2542Ter)
c.7621A>T (p.Lys2541Ter)
c.7567A>T (p.Lys2523Ter)
c.7537A>T (p.Lys2513Ter)
c.7492A>T (p.Lys2498Ter)
c.7087A>T (p.Lys2363Ter)
c.6445A>T (p.Lys2149Ter)
c.3955A>T (p.Lys1319Ter)
10g.71800706A>CCA377159949CDH23c.7433A>C (p.Lys2478Thr)
c.1366A>C (n.1366A>C)
c.1030A>C (n.1030A>C)
c.7448A>C (p.Lys2483Thr)
c.713A>C (p.Lys238Thr)
n.969A>C
c.7628A>C (p.Lys2543Thr)
c.7562A>C (p.Lys2521Thr)
c.7625A>C (p.Lys2542Thr)
c.7622A>C (p.Lys2541Thr)
c.7568A>C (p.Lys2523Thr)
c.7538A>C (p.Lys2513Thr)
c.7493A>C (p.Lys2498Thr)
c.7088A>C (p.Lys2363Thr)
c.6446A>C (p.Lys2149Thr)
c.3956A>C (p.Lys1319Thr)
10g.71800706A>GCA377159950CDH23c.7433A>G (p.Lys2478Arg)
c.1366A>G (n.1366A>G)
c.1030A>G (n.1030A>G)
c.7448A>G (p.Lys2483Arg)
c.713A>G (p.Lys238Arg)
n.969A>G
c.7628A>G (p.Lys2543Arg)
c.7562A>G (p.Lys2521Arg)
c.7625A>G (p.Lys2542Arg)
c.7622A>G (p.Lys2541Arg)
c.7568A>G (p.Lys2523Arg)
c.7538A>G (p.Lys2513Arg)
c.7493A>G (p.Lys2498Arg)
c.7088A>G (p.Lys2363Arg)
c.6446A>G (p.Lys2149Arg)
c.3956A>G (p.Lys1319Arg)
10g.71800706A>TCA377159951CDH23c.7433A>T (p.Lys2478Ile)
c.1366A>T (n.1366A>T)
c.1030A>T (n.1030A>T)
c.7448A>T (p.Lys2483Ile)
c.713A>T (p.Lys238Ile)
n.969A>T
c.7628A>T (p.Lys2543Ile)
c.7562A>T (p.Lys2521Ile)
c.7625A>T (p.Lys2542Ile)
c.7622A>T (p.Lys2541Ile)
c.7568A>T (p.Lys2523Ile)
c.7538A>T (p.Lys2513Ile)
c.7493A>T (p.Lys2498Ile)
c.7088A>T (p.Lys2363Ile)
c.6446A>T (p.Lys2149Ile)
c.3956A>T (p.Lys1319Ile)
10g.71800707A>CCA377159952CDH23c.7434A>C (p.Lys2478Asn)
c.1367A>C (n.1367A>C)
c.1031A>C (n.1031A>C)
c.7449A>C (p.Lys2483Asn)
c.714A>C (p.Lys238Asn)
n.970A>C
c.7629A>C (p.Lys2543Asn)
c.7563A>C (p.Lys2521Asn)
c.7626A>C (p.Lys2542Asn)
c.7623A>C (p.Lys2541Asn)
c.7569A>C (p.Lys2523Asn)
c.7539A>C (p.Lys2513Asn)
c.7494A>C (p.Lys2498Asn)
c.7089A>C (p.Lys2363Asn)
c.6447A>C (p.Lys2149Asn)
c.3957A>C (p.Lys1319Asn)
10g.71800707A>GCA470062280CDH23c.7434A>G (p.Lys2478=)
c.1367A>G (n.1367A>G)
c.1031A>G (n.1031A>G)
c.7449A>G (p.Lys2483=)
c.714A>G (p.Lys238=)
n.970A>G
c.7629A>G (p.Lys2543=)
c.7563A>G (p.Lys2521=)
c.7626A>G (p.Lys2542=)
c.7623A>G (p.Lys2541=)
c.7569A>G (p.Lys2523=)
c.7539A>G (p.Lys2513=)
c.7494A>G (p.Lys2498=)
c.7089A>G (p.Lys2363=)
c.6447A>G (p.Lys2149=)
c.3957A>G (p.Lys1319=)
10g.71800707A>TCA377159953CDH23c.7434A>T (p.Lys2478Asn)
c.1367A>T (n.1367A>T)
c.1031A>T (n.1031A>T)
c.7449A>T (p.Lys2483Asn)
c.714A>T (p.Lys238Asn)
n.970A>T
c.7629A>T (p.Lys2543Asn)
c.7563A>T (p.Lys2521Asn)
c.7626A>T (p.Lys2542Asn)
c.7623A>T (p.Lys2541Asn)
c.7569A>T (p.Lys2523Asn)
c.7539A>T (p.Lys2513Asn)
c.7494A>T (p.Lys2498Asn)
c.7089A>T (p.Lys2363Asn)
c.6447A>T (p.Lys2149Asn)
c.3957A>T (p.Lys1319Asn)
10g.71800708G>ACA377159954CDH23c.7435G>A (p.Asp2479Asn)
c.1368G>A (n.1368G>A)
c.1032G>A (n.1032G>A)
c.7450G>A (p.Asp2484Asn)
c.715G>A (p.Asp239Asn)
n.971G>A
c.7630G>A (p.Asp2544Asn)
c.7564G>A (p.Asp2522Asn)
c.7627G>A (p.Asp2543Asn)
c.7624G>A (p.Asp2542Asn)
c.7570G>A (p.Asp2524Asn)
c.7540G>A (p.Asp2514Asn)
c.7495G>A (p.Asp2499Asn)
c.7090G>A (p.Asp2364Asn)
c.6448G>A (p.Asp2150Asn)
c.3958G>A (p.Asp1320Asn)
10g.71800708G>CCA377159955CDH23c.7435G>C (p.Asp2479His)
c.1368G>C (n.1368G>C)
c.1032G>C (n.1032G>C)
c.7450G>C (p.Asp2484His)
c.715G>C (p.Asp239His)
n.971G>C
c.7630G>C (p.Asp2544His)
c.7564G>C (p.Asp2522His)
c.7627G>C (p.Asp2543His)
c.7624G>C (p.Asp2542His)
c.7570G>C (p.Asp2524His)
c.7540G>C (p.Asp2514His)
c.7495G>C (p.Asp2499His)
c.7090G>C (p.Asp2364His)
c.6448G>C (p.Asp2150His)
c.3958G>C (p.Asp1320His)
 dbSNP
10g.71800708G>TCA377159956CDH23c.7435G>T (p.Asp2479Tyr)
c.1368G>T (n.1368G>T)
c.1032G>T (n.1032G>T)
c.7450G>T (p.Asp2484Tyr)
c.715G>T (p.Asp239Tyr)
n.971G>T
c.7630G>T (p.Asp2544Tyr)
c.7564G>T (p.Asp2522Tyr)
c.7627G>T (p.Asp2543Tyr)
c.7624G>T (p.Asp2542Tyr)
c.7570G>T (p.Asp2524Tyr)
c.7540G>T (p.Asp2514Tyr)
c.7495G>T (p.Asp2499Tyr)
c.7090G>T (p.Asp2364Tyr)
c.6448G>T (p.Asp2150Tyr)
c.3958G>T (p.Asp1320Tyr)
10g.71800709A=CA1918879412CDH23c.7436A= (p.Asp2479=)
c.1369A= (n.1369A=)
c.1033A= (n.1033A=)
c.7451A= (p.Asp2484=)
c.716A= (p.Asp239=)
n.972A=
c.7631A= (p.Asp2544=)
c.7565A= (p.Asp2522=)
c.7628A= (p.Asp2543=)
c.7625A= (p.Asp2542=)
c.7571A= (p.Asp2524=)
c.7541A= (p.Asp2514=)
c.7496A= (p.Asp2499=)
c.7091A= (p.Asp2364=)
c.6449A= (p.Asp2150=)
c.3959A= (p.Asp1320=)
10g.71800709A>CCA377159959CDH23c.7436A>C (p.Asp2479Ala)
c.1369A>C (n.1369A>C)
c.1033A>C (n.1033A>C)
c.7451A>C (p.Asp2484Ala)
c.716A>C (p.Asp239Ala)
n.972A>C
c.7631A>C (p.Asp2544Ala)
c.7565A>C (p.Asp2522Ala)
c.7628A>C (p.Asp2543Ala)
c.7625A>C (p.Asp2542Ala)
c.7571A>C (p.Asp2524Ala)
c.7541A>C (p.Asp2514Ala)
c.7496A>C (p.Asp2499Ala)
c.7091A>C (p.Asp2364Ala)
c.6449A>C (p.Asp2150Ala)
c.3959A>C (p.Asp1320Ala)
10g.71800709A>GCA377159958CDH23c.7436A>G (p.Asp2479Gly)
c.1369A>G (n.1369A>G)
c.1033A>G (n.1033A>G)
c.7451A>G (p.Asp2484Gly)
c.716A>G (p.Asp239Gly)
n.972A>G
c.7631A>G (p.Asp2544Gly)
c.7565A>G (p.Asp2522Gly)
c.7628A>G (p.Asp2543Gly)
c.7625A>G (p.Asp2542Gly)
c.7571A>G (p.Asp2524Gly)
c.7541A>G (p.Asp2514Gly)
c.7496A>G (p.Asp2499Gly)
c.7091A>G (p.Asp2364Gly)
c.6449A>G (p.Asp2150Gly)
c.3959A>G (p.Asp1320Gly)
10g.71800709A>TCA377159957CDH23c.7436A>T (p.Asp2479Val)
c.1369A>T (n.1369A>T)
c.1033A>T (n.1033A>T)
c.7451A>T (p.Asp2484Val)
c.716A>T (p.Asp239Val)
n.972A>T
c.7631A>T (p.Asp2544Val)
c.7565A>T (p.Asp2522Val)
c.7628A>T (p.Asp2543Val)
c.7625A>T (p.Asp2542Val)
c.7571A>T (p.Asp2524Val)
c.7541A>T (p.Asp2514Val)
c.7496A>T (p.Asp2499Val)
c.7091A>T (p.Asp2364Val)
c.6449A>T (p.Asp2150Val)
c.3959A>T (p.Asp1320Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.71800710C>ACA377159960CDH23c.7437C>A (p.Asp2479Glu)
c.1370C>A (n.1370C>A)
c.1034C>A (n.1034C>A)
c.7452C>A (p.Asp2484Glu)
c.717C>A (p.Asp239Glu)
n.973C>A
c.7632C>A (p.Asp2544Glu)
c.7566C>A (p.Asp2522Glu)
c.7629C>A (p.Asp2543Glu)
c.7626C>A (p.Asp2542Glu)
c.7572C>A (p.Asp2524Glu)
c.7542C>A (p.Asp2514Glu)
c.7497C>A (p.Asp2499Glu)
c.7092C>A (p.Asp2364Glu)
c.6450C>A (p.Asp2150Glu)
c.3960C>A (p.Asp1320Glu)
10g.71800710C=CA1918879413CDH23c.7437C= (p.Asp2479=)
c.1370C= (n.1370C=)
c.1034C= (n.1034C=)
c.7452C= (p.Asp2484=)
c.717C= (p.Asp239=)
n.973C=
c.7632C= (p.Asp2544=)
c.7566C= (p.Asp2522=)
c.7629C= (p.Asp2543=)
c.7626C= (p.Asp2542=)
c.7572C= (p.Asp2524=)
c.7542C= (p.Asp2514=)
c.7497C= (p.Asp2499=)
c.7092C= (p.Asp2364=)
c.6450C= (p.Asp2150=)
c.3960C= (p.Asp1320=)
10g.71800710C>GCA5546345CDH23c.7437C>G (p.Asp2479Glu)
c.1370C>G (n.1370C>G)
c.1034C>G (n.1034C>G)
c.7452C>G (p.Asp2484Glu)
c.717C>G (p.Asp239Glu)
n.973C>G
c.7632C>G (p.Asp2544Glu)
c.7566C>G (p.Asp2522Glu)
c.7629C>G (p.Asp2543Glu)
c.7626C>G (p.Asp2542Glu)
c.7572C>G (p.Asp2524Glu)
c.7542C>G (p.Asp2514Glu)
c.7497C>G (p.Asp2499Glu)
c.7092C>G (p.Asp2364Glu)
c.6450C>G (p.Asp2150Glu)
c.3960C>G (p.Asp1320Glu)
 dbSNP ExAC gnomAD v2
10g.71800710C>TCA470062281CDH23c.7437C>T (p.Asp2479=)
c.1370C>T (n.1370C>T)
c.1034C>T (n.1034C>T)
c.7452C>T (p.Asp2484=)
c.717C>T (p.Asp239=)
n.973C>T
c.7632C>T (p.Asp2544=)
c.7566C>T (p.Asp2522=)
c.7629C>T (p.Asp2543=)
c.7626C>T (p.Asp2542=)
c.7572C>T (p.Asp2524=)
c.7542C>T (p.Asp2514=)
c.7497C>T (p.Asp2499=)
c.7092C>T (p.Asp2364=)
c.6450C>T (p.Asp2150=)
c.3960C>T (p.Asp1320=)
 gnomAD v4
10g.71800711A>CCA377159961CDH23c.7438A>C (p.Asn2480His)
c.1371A>C (n.1371A>C)
c.1035A>C (n.1035A>C)
c.7453A>C (p.Asn2485His)
c.718A>C (p.Asn240His)
n.974A>C
c.7633A>C (p.Asn2545His)
c.7567A>C (p.Asn2523His)
c.7630A>C (p.Asn2544His)
c.7627A>C (p.Asn2543His)
c.7573A>C (p.Asn2525His)
c.7543A>C (p.Asn2515His)
c.7498A>C (p.Asn2500His)
c.7093A>C (p.Asn2365His)
c.6451A>C (p.Asn2151His)
c.3961A>C (p.Asn1321His)
10g.71800711A>GCA377159962CDH23c.7438A>G (p.Asn2480Asp)
c.1371A>G (n.1371A>G)
c.1035A>G (n.1035A>G)
c.7453A>G (p.Asn2485Asp)
c.718A>G (p.Asn240Asp)
n.974A>G
c.7633A>G (p.Asn2545Asp)
c.7567A>G (p.Asn2523Asp)
c.7630A>G (p.Asn2544Asp)
c.7627A>G (p.Asn2543Asp)
c.7573A>G (p.Asn2525Asp)
c.7543A>G (p.Asn2515Asp)
c.7498A>G (p.Asn2500Asp)
c.7093A>G (p.Asn2365Asp)
c.6451A>G (p.Asn2151Asp)
c.3961A>G (p.Asn1321Asp)
10g.71800711A>TCA377159963CDH23c.7438A>T (p.Asn2480Tyr)
c.1371A>T (n.1371A>T)
c.1035A>T (n.1035A>T)
c.7453A>T (p.Asn2485Tyr)
c.718A>T (p.Asn240Tyr)
n.974A>T
c.7633A>T (p.Asn2545Tyr)
c.7567A>T (p.Asn2523Tyr)
c.7630A>T (p.Asn2544Tyr)
c.7627A>T (p.Asn2543Tyr)
c.7573A>T (p.Asn2525Tyr)
c.7543A>T (p.Asn2515Tyr)
c.7498A>T (p.Asn2500Tyr)
c.7093A>T (p.Asn2365Tyr)
c.6451A>T (p.Asn2151Tyr)
c.3961A>T (p.Asn1321Tyr)
10g.71800712A>CCA377159964CDH23c.7439A>C (p.Asn2480Thr)
c.1372A>C (n.1372A>C)
c.1036A>C (n.1036A>C)
c.7454A>C (p.Asn2485Thr)
c.719A>C (p.Asn240Thr)
n.975A>C
c.7634A>C (p.Asn2545Thr)
c.7568A>C (p.Asn2523Thr)
c.7631A>C (p.Asn2544Thr)
c.7628A>C (p.Asn2543Thr)
c.7574A>C (p.Asn2525Thr)
c.7544A>C (p.Asn2515Thr)
c.7499A>C (p.Asn2500Thr)
c.7094A>C (p.Asn2365Thr)
c.6452A>C (p.Asn2151Thr)
c.3962A>C (p.Asn1321Thr)
10g.71800712A>GCA377159965CDH23c.7439A>G (p.Asn2480Ser)
c.1372A>G (n.1372A>G)
c.1036A>G (n.1036A>G)
c.7454A>G (p.Asn2485Ser)
c.719A>G (p.Asn240Ser)
n.975A>G
c.7634A>G (p.Asn2545Ser)
c.7568A>G (p.Asn2523Ser)
c.7631A>G (p.Asn2544Ser)
c.7628A>G (p.Asn2543Ser)
c.7574A>G (p.Asn2525Ser)
c.7544A>G (p.Asn2515Ser)
c.7499A>G (p.Asn2500Ser)
c.7094A>G (p.Asn2365Ser)
c.6452A>G (p.Asn2151Ser)
c.3962A>G (p.Asn1321Ser)
 gnomAD v4
10g.71800712A>TCA377159966CDH23c.7439A>T (p.Asn2480Ile)
c.1372A>T (n.1372A>T)
c.1036A>T (n.1036A>T)
c.7454A>T (p.Asn2485Ile)
c.719A>T (p.Asn240Ile)
n.975A>T
c.7634A>T (p.Asn2545Ile)
c.7568A>T (p.Asn2523Ile)
c.7631A>T (p.Asn2544Ile)
c.7628A>T (p.Asn2543Ile)
c.7574A>T (p.Asn2525Ile)
c.7544A>T (p.Asn2515Ile)
c.7499A>T (p.Asn2500Ile)
c.7094A>T (p.Asn2365Ile)
c.6452A>T (p.Asn2151Ile)
c.3962A>T (p.Asn1321Ile)
10g.71800713C>ACA377159967CDH23c.7440C>A (p.Asn2480Lys)
c.1373C>A (n.1373C>A)
c.1037C>A (n.1037C>A)
c.7455C>A (p.Asn2485Lys)
c.720C>A (p.Asn240Lys)
n.976C>A
c.7635C>A (p.Asn2545Lys)
c.7569C>A (p.Asn2523Lys)
c.7632C>A (p.Asn2544Lys)
c.7629C>A (p.Asn2543Lys)
c.7575C>A (p.Asn2525Lys)
c.7545C>A (p.Asn2515Lys)
c.7500C>A (p.Asn2500Lys)
c.7095C>A (p.Asn2365Lys)
c.6453C>A (p.Asn2151Lys)
c.3963C>A (p.Asn1321Lys)
 dbSNP gnomAD v3 gnomAD v4
10g.71800713C=CA1918879414CDH23c.7440C= (p.Asn2480=)
c.1373C= (n.1373C=)
c.1037C= (n.1037C=)
c.7455C= (p.Asn2485=)
c.720C= (p.Asn240=)
n.976C=
c.7635C= (p.Asn2545=)
c.7569C= (p.Asn2523=)
c.7632C= (p.Asn2544=)
c.7629C= (p.Asn2543=)
c.7575C= (p.Asn2525=)
c.7545C= (p.Asn2515=)
c.7500C= (p.Asn2500=)
c.7095C= (p.Asn2365=)
c.6453C= (p.Asn2151=)
c.3963C= (p.Asn1321=)
10g.71800713C>GCA377159968CDH23c.7440C>G (p.Asn2480Lys)
c.1373C>G (n.1373C>G)
c.1037C>G (n.1037C>G)
c.7455C>G (p.Asn2485Lys)
c.720C>G (p.Asn240Lys)
n.976C>G
c.7635C>G (p.Asn2545Lys)
c.7569C>G (p.Asn2523Lys)
c.7632C>G (p.Asn2544Lys)
c.7629C>G (p.Asn2543Lys)
c.7575C>G (p.Asn2525Lys)
c.7545C>G (p.Asn2515Lys)
c.7500C>G (p.Asn2500Lys)
c.7095C>G (p.Asn2365Lys)
c.6453C>G (p.Asn2151Lys)
c.3963C>G (p.Asn1321Lys)
10g.71800713C>TCA470062282CDH23c.7440C>T (p.Asn2480=)
c.1373C>T (n.1373C>T)
c.1037C>T (n.1037C>T)
c.7455C>T (p.Asn2485=)
c.720C>T (p.Asn240=)
n.976C>T
c.7635C>T (p.Asn2545=)
c.7569C>T (p.Asn2523=)
c.7632C>T (p.Asn2544=)
c.7629C>T (p.Asn2543=)
c.7575C>T (p.Asn2525=)
c.7545C>T (p.Asn2515=)
c.7500C>T (p.Asn2500=)
c.7095C>T (p.Asn2365=)
c.6453C>T (p.Asn2151=)
c.3963C>T (p.Asn1321=)
 dbSNP gnomAD v2 gnomAD v4
10g.71800714C>ACA5546346CDH23c.7441C>A (p.Pro2481Thr)
c.1374C>A (n.1374C>A)
c.1038C>A (n.1038C>A)
c.7456C>A (p.Pro2486Thr)
c.721C>A (p.Pro241Thr)
n.977C>A
c.7636C>A (p.Pro2546Thr)
c.7570C>A (p.Pro2524Thr)
c.7633C>A (p.Pro2545Thr)
c.7630C>A (p.Pro2544Thr)
c.7576C>A (p.Pro2526Thr)
c.7546C>A (p.Pro2516Thr)
c.7501C>A (p.Pro2501Thr)
c.7096C>A (p.Pro2366Thr)
c.6454C>A (p.Pro2152Thr)
c.3964C>A (p.Pro1322Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71800714C=CA1918879415CDH23c.7441C= (p.Pro2481=)
c.1374C= (n.1374C=)
c.1038C= (n.1038C=)
c.7456C= (p.Pro2486=)
c.721C= (p.Pro241=)
n.977C=
c.7636C= (p.Pro2546=)
c.7570C= (p.Pro2524=)
c.7633C= (p.Pro2545=)
c.7630C= (p.Pro2544=)
c.7576C= (p.Pro2526=)
c.7546C= (p.Pro2516=)
c.7501C= (p.Pro2501=)
c.7096C= (p.Pro2366=)
c.6454C= (p.Pro2152=)
c.3964C= (p.Pro1322=)
10g.71800714C>GCA377159969CDH23c.7441C>G (p.Pro2481Ala)
c.1374C>G (n.1374C>G)
c.1038C>G (n.1038C>G)
c.7456C>G (p.Pro2486Ala)
c.721C>G (p.Pro241Ala)
n.977C>G
c.7636C>G (p.Pro2546Ala)
c.7570C>G (p.Pro2524Ala)
c.7633C>G (p.Pro2545Ala)
c.7630C>G (p.Pro2544Ala)
c.7576C>G (p.Pro2526Ala)
c.7546C>G (p.Pro2516Ala)
c.7501C>G (p.Pro2501Ala)
c.7096C>G (p.Pro2366Ala)
c.6454C>G (p.Pro2152Ala)
c.3964C>G (p.Pro1322Ala)
10g.71800714C>TCA5546347CDH23c.7441C>T (p.Pro2481Ser)
c.1374C>T (n.1374C>T)
c.1038C>T (n.1038C>T)
c.7456C>T (p.Pro2486Ser)
c.721C>T (p.Pro241Ser)
n.977C>T
c.7636C>T (p.Pro2546Ser)
c.7570C>T (p.Pro2524Ser)
c.7633C>T (p.Pro2545Ser)
c.7630C>T (p.Pro2544Ser)
c.7576C>T (p.Pro2526Ser)
c.7546C>T (p.Pro2516Ser)
c.7501C>T (p.Pro2501Ser)
c.7096C>T (p.Pro2366Ser)
c.6454C>T (p.Pro2152Ser)
c.3964C>T (p.Pro1322Ser)
 dbSNP ExAC gnomAD v2
10g.71800715C>ACA377159971CDH23c.7442C>A (p.Pro2481His)
c.1375C>A (n.1375C>A)
c.1039C>A (n.1039C>A)
c.7457C>A (p.Pro2486His)
c.722C>A (p.Pro241His)
n.978C>A
c.7637C>A (p.Pro2546His)
c.7571C>A (p.Pro2524His)
c.7634C>A (p.Pro2545His)
c.7631C>A (p.Pro2544His)
c.7577C>A (p.Pro2526His)
c.7547C>A (p.Pro2516His)
c.7502C>A (p.Pro2501His)
c.7097C>A (p.Pro2366His)
c.6455C>A (p.Pro2152His)
c.3965C>A (p.Pro1322His)
10g.71800715C=CA1918879416CDH23c.7442C= (p.Pro2481=)
c.1375C= (n.1375C=)
c.1039C= (n.1039C=)
c.7457C= (p.Pro2486=)
c.722C= (p.Pro241=)
n.978C=
c.7637C= (p.Pro2546=)
c.7571C= (p.Pro2524=)
c.7634C= (p.Pro2545=)
c.7631C= (p.Pro2544=)
c.7577C= (p.Pro2526=)
c.7547C= (p.Pro2516=)
c.7502C= (p.Pro2501=)
c.7097C= (p.Pro2366=)
c.6455C= (p.Pro2152=)
c.3965C= (p.Pro1322=)
10g.71800715C>GCA137567CDH23c.7442C>G (p.Pro2481Arg)
c.1375C>G (n.1375C>G)
c.1039C>G (n.1039C>G)
c.7457C>G (p.Pro2486Arg)
c.722C>G (p.Pro241Arg)
n.978C>G
c.7637C>G (p.Pro2546Arg)
c.7571C>G (p.Pro2524Arg)
c.7634C>G (p.Pro2545Arg)
c.7631C>G (p.Pro2544Arg)
c.7577C>G (p.Pro2526Arg)
c.7547C>G (p.Pro2516Arg)
c.7502C>G (p.Pro2501Arg)
c.7097C>G (p.Pro2366Arg)
c.6455C>G (p.Pro2152Arg)
c.3965C>G (p.Pro1322Arg)
 ClinVar dbSNP
10g.71800715C>TCA377159970CDH23c.7442C>T (p.Pro2481Leu)
c.1375C>T (n.1375C>T)
c.1039C>T (n.1039C>T)
c.7457C>T (p.Pro2486Leu)
c.722C>T (p.Pro241Leu)
n.978C>T
c.7637C>T (p.Pro2546Leu)
c.7571C>T (p.Pro2524Leu)
c.7634C>T (p.Pro2545Leu)
c.7631C>T (p.Pro2544Leu)
c.7577C>T (p.Pro2526Leu)
c.7547C>T (p.Pro2516Leu)
c.7502C>T (p.Pro2501Leu)
c.7097C>T (p.Pro2366Leu)
c.6455C>T (p.Pro2152Leu)
c.3965C>T (p.Pro1322Leu)
 ClinVar
10g.71800716T>ACA470062283CDH23c.7443T>A (p.Pro2481=)
c.1376T>A (n.1376T>A)
c.1040T>A (n.1040T>A)
c.7458T>A (p.Pro2486=)
c.723T>A (p.Pro241=)
n.979T>A
c.7638T>A (p.Pro2546=)
c.7572T>A (p.Pro2524=)
c.7635T>A (p.Pro2545=)
c.7632T>A (p.Pro2544=)
c.7578T>A (p.Pro2526=)
c.7548T>A (p.Pro2516=)
c.7503T>A (p.Pro2501=)
c.7098T>A (p.Pro2366=)
c.6456T>A (p.Pro2152=)
c.3966T>A (p.Pro1322=)
10g.71800716T>CCA470062284CDH23c.7443T>C (p.Pro2481=)
c.1376T>C (n.1376T>C)
c.1040T>C (n.1040T>C)
c.7458T>C (p.Pro2486=)
c.723T>C (p.Pro241=)
n.979T>C
c.7638T>C (p.Pro2546=)
c.7572T>C (p.Pro2524=)
c.7635T>C (p.Pro2545=)
c.7632T>C (p.Pro2544=)
c.7578T>C (p.Pro2526=)
c.7548T>C (p.Pro2516=)
c.7503T>C (p.Pro2501=)
c.7098T>C (p.Pro2366=)
c.6456T>C (p.Pro2152=)
c.3966T>C (p.Pro1322=)
10g.71800716T>GCA470062285CDH23c.7443T>G (p.Pro2481=)
c.1376T>G (n.1376T>G)
c.1040T>G (n.1040T>G)
c.7458T>G (p.Pro2486=)
c.723T>G (p.Pro241=)
n.979T>G
c.7638T>G (p.Pro2546=)
c.7572T>G (p.Pro2524=)
c.7635T>G (p.Pro2545=)
c.7632T>G (p.Pro2544=)
c.7578T>G (p.Pro2526=)
c.7548T>G (p.Pro2516=)
c.7503T>G (p.Pro2501=)
c.7098T>G (p.Pro2366=)
c.6456T>G (p.Pro2152=)
c.3966T>G (p.Pro1322=)
10g.71800716T=CA1918879417CDH23c.7443T= (p.Pro2481=)
c.1376T= (n.1376T=)
c.1040T= (n.1040T=)
c.7458T= (p.Pro2486=)
c.723T= (p.Pro241=)
n.979T=
c.7638T= (p.Pro2546=)
c.7572T= (p.Pro2524=)
c.7635T= (p.Pro2545=)
c.7632T= (p.Pro2544=)
c.7578T= (p.Pro2526=)
c.7548T= (p.Pro2516=)
c.7503T= (p.Pro2501=)
c.7098T= (p.Pro2366=)
c.6456T= (p.Pro2152=)
c.3966T= (p.Pro1322=)
10g.71800717G>ACA5546348CDH23c.7444G>A (p.Gly2482Arg)
c.1377G>A (n.1377G>A)
c.1041G>A (n.1041G>A)
c.7459G>A (p.Gly2487Arg)
c.724G>A (p.Gly242Arg)
n.980G>A
c.7639G>A (p.Gly2547Arg)
c.7573G>A (p.Gly2525Arg)
c.7636G>A (p.Gly2546Arg)
c.7633G>A (p.Gly2545Arg)
c.7579G>A (p.Gly2527Arg)
c.7549G>A (p.Gly2517Arg)
c.7504G>A (p.Gly2502Arg)
c.7099G>A (p.Gly2367Arg)
c.6457G>A (p.Gly2153Arg)
c.3967G>A (p.Gly1323Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71800717G>CCA377159972CDH23c.7444G>C (p.Gly2482Arg)
c.1377G>C (n.1377G>C)
c.1041G>C (n.1041G>C)
c.7459G>C (p.Gly2487Arg)
c.724G>C (p.Gly242Arg)
n.980G>C
c.7639G>C (p.Gly2547Arg)
c.7573G>C (p.Gly2525Arg)
c.7636G>C (p.Gly2546Arg)
c.7633G>C (p.Gly2545Arg)
c.7579G>C (p.Gly2527Arg)
c.7549G>C (p.Gly2517Arg)
c.7504G>C (p.Gly2502Arg)
c.7099G>C (p.Gly2367Arg)
c.6457G>C (p.Gly2153Arg)
c.3967G>C (p.Gly1323Arg)
10g.71800717G=CA1918879418CDH23c.7444G= (p.Gly2482=)
c.1377G= (n.1377G=)
c.1041G= (n.1041G=)
c.7459G= (p.Gly2487=)
c.724G= (p.Gly242=)
n.980G=
c.7639G= (p.Gly2547=)
c.7573G= (p.Gly2525=)
c.7636G= (p.Gly2546=)
c.7633G= (p.Gly2545=)
c.7579G= (p.Gly2527=)
c.7549G= (p.Gly2517=)
c.7504G= (p.Gly2502=)
c.7099G= (p.Gly2367=)
c.6457G= (p.Gly2153=)
c.3967G= (p.Gly1323=)
10g.71800717G>TCA377159973CDH23c.7444G>T (p.Gly2482Trp)
c.1377G>T (n.1377G>T)
c.1041G>T (n.1041G>T)
c.7459G>T (p.Gly2487Trp)
c.724G>T (p.Gly242Trp)
n.980G>T
c.7639G>T (p.Gly2547Trp)
c.7573G>T (p.Gly2525Trp)
c.7636G>T (p.Gly2546Trp)
c.7633G>T (p.Gly2545Trp)
c.7579G>T (p.Gly2527Trp)
c.7549G>T (p.Gly2517Trp)
c.7504G>T (p.Gly2502Trp)
c.7099G>T (p.Gly2367Trp)
c.6457G>T (p.Gly2153Trp)
c.3967G>T (p.Gly1323Trp)
10g.71800720dupCA209471114CDH23c.7447dup (p.Asp2483GlyfsTer22)
c.1380dup (n.1380dup)
c.1044dup (n.1044dup)
c.7462dup (p.Asp2488GlyfsTer22)
c.727dup (p.Asp243GlyfsTer22)
n.983dup
c.7642dup (p.Asp2548GlyfsTer22)
c.7576dup (p.Asp2526GlyfsTer22)
c.7639dup (p.Asp2547GlyfsTer22)
c.7636dup (p.Asp2546GlyfsTer22)
c.7582dup (p.Asp2528GlyfsTer22)
c.7552dup (p.Asp2518GlyfsTer22)
c.7507dup (p.Asp2503GlyfsTer22)
c.7102dup (p.Asp2368GlyfsTer22)
c.6460dup (p.Asp2154GlyfsTer22)
c.3970dup (p.Asp1324GlyfsTer22)
 dbSNP
10g.71800718G>ACA377159974CDH23c.7445G>A (p.Gly2482Glu)
c.1378G>A (n.1378G>A)
c.1042G>A (n.1042G>A)
c.7460G>A (p.Gly2487Glu)
c.725G>A (p.Gly242Glu)
n.981G>A
c.7640G>A (p.Gly2547Glu)
c.7574G>A (p.Gly2525Glu)
c.7637G>A (p.Gly2546Glu)
c.7634G>A (p.Gly2545Glu)
c.7580G>A (p.Gly2527Glu)
c.7550G>A (p.Gly2517Glu)
c.7505G>A (p.Gly2502Glu)
c.7100G>A (p.Gly2367Glu)
c.6458G>A (p.Gly2153Glu)
c.3968G>A (p.Gly1323Glu)
10g.71800718G>CCA377159975CDH23c.7445G>C (p.Gly2482Ala)
c.1378G>C (n.1378G>C)
c.1042G>C (n.1042G>C)
c.7460G>C (p.Gly2487Ala)
c.725G>C (p.Gly242Ala)
n.981G>C
c.7640G>C (p.Gly2547Ala)
c.7574G>C (p.Gly2525Ala)
c.7637G>C (p.Gly2546Ala)
c.7634G>C (p.Gly2545Ala)
c.7580G>C (p.Gly2527Ala)
c.7550G>C (p.Gly2517Ala)
c.7505G>C (p.Gly2502Ala)
c.7100G>C (p.Gly2367Ala)
c.6458G>C (p.Gly2153Ala)
c.3968G>C (p.Gly1323Ala)
10g.71800718G>TCA377159976CDH23c.7445G>T (p.Gly2482Val)
c.1378G>T (n.1378G>T)
c.1042G>T (n.1042G>T)
c.7460G>T (p.Gly2487Val)
c.725G>T (p.Gly242Val)
n.981G>T
c.7640G>T (p.Gly2547Val)
c.7574G>T (p.Gly2525Val)
c.7637G>T (p.Gly2546Val)
c.7634G>T (p.Gly2545Val)
c.7580G>T (p.Gly2527Val)
c.7550G>T (p.Gly2517Val)
c.7505G>T (p.Gly2502Val)
c.7100G>T (p.Gly2367Val)
c.6458G>T (p.Gly2153Val)
c.3968G>T (p.Gly1323Val)
10g.71800719G>ACA470062286CDH23c.7446G>A (p.Gly2482=)
c.1379G>A (n.1379G>A)
c.1043G>A (n.1043G>A)
c.7461G>A (p.Gly2487=)
c.726G>A (p.Gly242=)
n.982G>A
c.7641G>A (p.Gly2547=)
c.7575G>A (p.Gly2525=)
c.7638G>A (p.Gly2546=)
c.7635G>A (p.Gly2545=)
c.7581G>A (p.Gly2527=)
c.7551G>A (p.Gly2517=)
c.7506G>A (p.Gly2502=)
c.7101G>A (p.Gly2367=)
c.6459G>A (p.Gly2153=)
c.3969G>A (p.Gly1323=)
 gnomAD v4
10g.71800719G>CCA470062287CDH23c.7446G>C (p.Gly2482=)
c.1379G>C (n.1379G>C)
c.1043G>C (n.1043G>C)
c.7461G>C (p.Gly2487=)
c.726G>C (p.Gly242=)
n.982G>C
c.7641G>C (p.Gly2547=)
c.7575G>C (p.Gly2525=)
c.7638G>C (p.Gly2546=)
c.7635G>C (p.Gly2545=)
c.7581G>C (p.Gly2527=)
c.7551G>C (p.Gly2517=)
c.7506G>C (p.Gly2502=)
c.7101G>C (p.Gly2367=)
c.6459G>C (p.Gly2153=)
c.3969G>C (p.Gly1323=)
10g.71800719G>TCA470062288CDH23c.7446G>T (p.Gly2482=)
c.1379G>T (n.1379G>T)
c.1043G>T (n.1043G>T)
c.7461G>T (p.Gly2487=)
c.726G>T (p.Gly242=)
n.982G>T
c.7641G>T (p.Gly2547=)
c.7575G>T (p.Gly2525=)
c.7638G>T (p.Gly2546=)
c.7635G>T (p.Gly2545=)
c.7581G>T (p.Gly2527=)
c.7551G>T (p.Gly2517=)
c.7506G>T (p.Gly2502=)
c.7101G>T (p.Gly2367=)
c.6459G>T (p.Gly2153=)
c.3969G>T (p.Gly1323=)
10g.71800720G>ACA377159977CDH23c.7447G>A (p.Asp2483Asn)
c.1380G>A (n.1380G>A)
c.1044G>A (n.1044G>A)
c.7462G>A (p.Asp2488Asn)
c.727G>A (p.Asp243Asn)
n.983G>A
c.7642G>A (p.Asp2548Asn)
c.7576G>A (p.Asp2526Asn)
c.7639G>A (p.Asp2547Asn)
c.7636G>A (p.Asp2546Asn)
c.7582G>A (p.Asp2528Asn)
c.7552G>A (p.Asp2518Asn)
c.7507G>A (p.Asp2503Asn)
c.7102G>A (p.Asp2368Asn)
c.6460G>A (p.Asp2154Asn)
c.3970G>A (p.Asp1324Asn)
10g.71800720G>CCA377159978CDH23c.7447G>C (p.Asp2483His)
c.1380G>C (n.1380G>C)
c.1044G>C (n.1044G>C)
c.7462G>C (p.Asp2488His)
c.727G>C (p.Asp243His)
n.983G>C
c.7642G>C (p.Asp2548His)
c.7576G>C (p.Asp2526His)
c.7639G>C (p.Asp2547His)
c.7636G>C (p.Asp2546His)
c.7582G>C (p.Asp2528His)
c.7552G>C (p.Asp2518His)
c.7507G>C (p.Asp2503His)
c.7102G>C (p.Asp2368His)
c.6460G>C (p.Asp2154His)
c.3970G>C (p.Asp1324His)
10g.71800720G>TCA377159979CDH23c.7447G>T (p.Asp2483Tyr)
c.1380G>T (n.1380G>T)
c.1044G>T (n.1044G>T)
c.7462G>T (p.Asp2488Tyr)
c.727G>T (p.Asp243Tyr)
n.983G>T
c.7642G>T (p.Asp2548Tyr)
c.7576G>T (p.Asp2526Tyr)
c.7639G>T (p.Asp2547Tyr)
c.7636G>T (p.Asp2546Tyr)
c.7582G>T (p.Asp2528Tyr)
c.7552G>T (p.Asp2518Tyr)
c.7507G>T (p.Asp2503Tyr)
c.7102G>T (p.Asp2368Tyr)
c.6460G>T (p.Asp2154Tyr)
c.3970G>T (p.Asp1324Tyr)
 gnomAD v4
10g.71800721A>CCA377159980CDH23c.7448A>C (p.Asp2483Ala)
c.1381A>C (n.1381A>C)
c.1045A>C (n.1045A>C)
c.7463A>C (p.Asp2488Ala)
c.728A>C (p.Asp243Ala)
n.984A>C
c.7643A>C (p.Asp2548Ala)
c.7577A>C (p.Asp2526Ala)
c.7640A>C (p.Asp2547Ala)
c.7637A>C (p.Asp2546Ala)
c.7583A>C (p.Asp2528Ala)
c.7553A>C (p.Asp2518Ala)
c.7508A>C (p.Asp2503Ala)
c.7103A>C (p.Asp2368Ala)
c.6461A>C (p.Asp2154Ala)
c.3971A>C (p.Asp1324Ala)
10g.71800721A>GCA377159981CDH23c.7448A>G (p.Asp2483Gly)
c.1381A>G (n.1381A>G)
c.1045A>G (n.1045A>G)
c.7463A>G (p.Asp2488Gly)
c.728A>G (p.Asp243Gly)
n.984A>G
c.7643A>G (p.Asp2548Gly)
c.7577A>G (p.Asp2526Gly)
c.7640A>G (p.Asp2547Gly)
c.7637A>G (p.Asp2546Gly)
c.7583A>G (p.Asp2528Gly)
c.7553A>G (p.Asp2518Gly)
c.7508A>G (p.Asp2503Gly)
c.7103A>G (p.Asp2368Gly)
c.6461A>G (p.Asp2154Gly)
c.3971A>G (p.Asp1324Gly)
10g.71800721A>TCA377159982CDH23c.7448A>T (p.Asp2483Val)
c.1381A>T (n.1381A>T)
c.1045A>T (n.1045A>T)
c.7463A>T (p.Asp2488Val)
c.728A>T (p.Asp243Val)
n.984A>T
c.7643A>T (p.Asp2548Val)
c.7577A>T (p.Asp2526Val)
c.7640A>T (p.Asp2547Val)
c.7637A>T (p.Asp2546Val)
c.7583A>T (p.Asp2528Val)
c.7553A>T (p.Asp2518Val)
c.7508A>T (p.Asp2503Val)
c.7103A>T (p.Asp2368Val)
c.6461A>T (p.Asp2154Val)
c.3971A>T (p.Asp1324Val)
10g.71800722T>ACA5546349CDH23c.7449T>A (p.Asp2483Glu)
c.1382T>A (n.1382T>A)
c.1046T>A (n.1046T>A)
c.7464T>A (p.Asp2488Glu)
c.729T>A (p.Asp243Glu)
n.985T>A
c.7644T>A (p.Asp2548Glu)
c.7578T>A (p.Asp2526Glu)
c.7641T>A (p.Asp2547Glu)
c.7638T>A (p.Asp2546Glu)
c.7584T>A (p.Asp2528Glu)
c.7554T>A (p.Asp2518Glu)
c.7509T>A (p.Asp2503Glu)
c.7104T>A (p.Asp2368Glu)
c.6462T>A (p.Asp2154Glu)
c.3972T>A (p.Asp1324Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71800722T>CCA470062289CDH23c.7449T>C (p.Asp2483=)
c.1382T>C (n.1382T>C)
c.1046T>C (n.1046T>C)
c.7464T>C (p.Asp2488=)
c.729T>C (p.Asp243=)
n.985T>C
c.7644T>C (p.Asp2548=)
c.7578T>C (p.Asp2526=)
c.7641T>C (p.Asp2547=)
c.7638T>C (p.Asp2546=)
c.7584T>C (p.Asp2528=)
c.7554T>C (p.Asp2518=)
c.7509T>C (p.Asp2503=)
c.7104T>C (p.Asp2368=)
c.6462T>C (p.Asp2154=)
c.3972T>C (p.Asp1324=)
 ClinVar dbSNP gnomAD v4
10g.71800722T>GCA377159983CDH23c.7449T>G (p.Asp2483Glu)
c.1382T>G (n.1382T>G)
c.1046T>G (n.1046T>G)
c.7464T>G (p.Asp2488Glu)
c.729T>G (p.Asp243Glu)
n.985T>G
c.7644T>G (p.Asp2548Glu)
c.7578T>G (p.Asp2526Glu)
c.7641T>G (p.Asp2547Glu)
c.7638T>G (p.Asp2546Glu)
c.7584T>G (p.Asp2528Glu)
c.7554T>G (p.Asp2518Glu)
c.7509T>G (p.Asp2503Glu)
c.7104T>G (p.Asp2368Glu)
c.6462T>G (p.Asp2154Glu)
c.3972T>G (p.Asp1324Glu)
10g.71800722T=CA1918879419CDH23c.7449T= (p.Asp2483=)
c.1382T= (n.1382T=)
c.1046T= (n.1046T=)
c.7464T= (p.Asp2488=)
c.729T= (p.Asp243=)
n.985T=
c.7644T= (p.Asp2548=)
c.7578T= (p.Asp2526=)
c.7641T= (p.Asp2547=)
c.7638T= (p.Asp2546=)
c.7584T= (p.Asp2528=)
c.7554T= (p.Asp2518=)
c.7509T= (p.Asp2503=)
c.7104T= (p.Asp2368=)
c.6462T= (p.Asp2154=)
c.3972T= (p.Asp1324=)
10g.71800723G>ACA5546350CDH23c.7450G>A (p.Val2484Ile)
c.1383G>A (n.1383G>A)
c.1047G>A (n.1047G>A)
c.7465G>A (p.Val2489Ile)
c.730G>A (p.Val244Ile)
n.986G>A
c.7645G>A (p.Val2549Ile)
c.7579G>A (p.Val2527Ile)
c.7642G>A (p.Val2548Ile)
c.7639G>A (p.Val2547Ile)
c.7585G>A (p.Val2529Ile)
c.7555G>A (p.Val2519Ile)
c.7510G>A (p.Val2504Ile)
c.7105G>A (p.Val2369Ile)
c.6463G>A (p.Val2155Ile)
c.3973G>A (p.Val1325Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71800723G>CCA377159985CDH23c.7450G>C (p.Val2484Leu)
c.1383G>C (n.1383G>C)
c.1047G>C (n.1047G>C)
c.7465G>C (p.Val2489Leu)
c.730G>C (p.Val244Leu)
n.986G>C
c.7645G>C (p.Val2549Leu)
c.7579G>C (p.Val2527Leu)
c.7642G>C (p.Val2548Leu)
c.7639G>C (p.Val2547Leu)
c.7585G>C (p.Val2529Leu)
c.7555G>C (p.Val2519Leu)
c.7510G>C (p.Val2504Leu)
c.7105G>C (p.Val2369Leu)
c.6463G>C (p.Val2155Leu)
c.3973G>C (p.Val1325Leu)
10g.71800723G=CA1918879420CDH23c.7450G= (p.Val2484=)
c.1383G= (n.1383G=)
c.1047G= (n.1047G=)
c.7465G= (p.Val2489=)
c.730G= (p.Val244=)
n.986G=
c.7645G= (p.Val2549=)
c.7579G= (p.Val2527=)
c.7642G= (p.Val2548=)
c.7639G= (p.Val2547=)
c.7585G= (p.Val2529=)
c.7555G= (p.Val2519=)
c.7510G= (p.Val2504=)
c.7105G= (p.Val2369=)
c.6463G= (p.Val2155=)
c.3973G= (p.Val1325=)
10g.71800723G>TCA377159984CDH23c.7450G>T (p.Val2484Leu)
c.1383G>T (n.1383G>T)
c.1047G>T (n.1047G>T)
c.7465G>T (p.Val2489Leu)
c.730G>T (p.Val244Leu)
n.986G>T
c.7645G>T (p.Val2549Leu)
c.7579G>T (p.Val2527Leu)
c.7642G>T (p.Val2548Leu)
c.7639G>T (p.Val2547Leu)
c.7585G>T (p.Val2529Leu)
c.7555G>T (p.Val2519Leu)
c.7510G>T (p.Val2504Leu)
c.7105G>T (p.Val2369Leu)
c.6463G>T (p.Val2155Leu)
c.3973G>T (p.Val1325Leu)
10g.71800724T>ACA377159986CDH23c.7451T>A (p.Val2484Glu)
c.1384T>A (n.1384T>A)
c.1048T>A (n.1048T>A)
c.7466T>A (p.Val2489Glu)
c.731T>A (p.Val244Glu)
n.987T>A
c.7646T>A (p.Val2549Glu)
c.7580T>A (p.Val2527Glu)
c.7643T>A (p.Val2548Glu)
c.7640T>A (p.Val2547Glu)
c.7586T>A (p.Val2529Glu)
c.7556T>A (p.Val2519Glu)
c.7511T>A (p.Val2504Glu)
c.7106T>A (p.Val2369Glu)
c.6464T>A (p.Val2155Glu)
c.3974T>A (p.Val1325Glu)
10g.71800724T>CCA377159987CDH23c.7451T>C (p.Val2484Ala)
c.1384T>C (n.1384T>C)
c.1048T>C (n.1048T>C)
c.7466T>C (p.Val2489Ala)
c.731T>C (p.Val244Ala)
n.987T>C
c.7646T>C (p.Val2549Ala)
c.7580T>C (p.Val2527Ala)
c.7643T>C (p.Val2548Ala)
c.7640T>C (p.Val2547Ala)
c.7586T>C (p.Val2529Ala)
c.7556T>C (p.Val2519Ala)
c.7511T>C (p.Val2504Ala)
c.7106T>C (p.Val2369Ala)
c.6464T>C (p.Val2155Ala)
c.3974T>C (p.Val1325Ala)
 dbSNP gnomAD v4
10g.71800724T>GCA377159988CDH23c.7451T>G (p.Val2484Gly)
c.1384T>G (n.1384T>G)
c.1048T>G (n.1048T>G)
c.7466T>G (p.Val2489Gly)
c.731T>G (p.Val244Gly)
n.987T>G
c.7646T>G (p.Val2549Gly)
c.7580T>G (p.Val2527Gly)
c.7643T>G (p.Val2548Gly)
c.7640T>G (p.Val2547Gly)
c.7586T>G (p.Val2529Gly)
c.7556T>G (p.Val2519Gly)
c.7511T>G (p.Val2504Gly)
c.7106T>G (p.Val2369Gly)
c.6464T>G (p.Val2155Gly)
c.3974T>G (p.Val1325Gly)
10g.71800724T=CA1918879421CDH23c.7451T= (p.Val2484=)
c.1384T= (n.1384T=)
c.1048T= (n.1048T=)
c.7466T= (p.Val2489=)
c.731T= (p.Val244=)
n.987T=
c.7646T= (p.Val2549=)
c.7580T= (p.Val2527=)
c.7643T= (p.Val2548=)
c.7640T= (p.Val2547=)
c.7586T= (p.Val2529=)
c.7556T= (p.Val2519=)
c.7511T= (p.Val2504=)
c.7106T= (p.Val2369=)
c.6464T= (p.Val2155=)
c.3974T= (p.Val1325=)
10g.71800725A=CA1918879422CDH23c.7452A= (p.Val2484=)
c.1385A= (n.1385A=)
c.1049A= (n.1049A=)
c.7467A= (p.Val2489=)
c.732A= (p.Val244=)
n.988A=
c.7647A= (p.Val2549=)
c.7581A= (p.Val2527=)
c.7644A= (p.Val2548=)
c.7641A= (p.Val2547=)
c.7587A= (p.Val2529=)
c.7557A= (p.Val2519=)
c.7512A= (p.Val2504=)
c.7107A= (p.Val2369=)
c.6465A= (p.Val2155=)
c.3975A= (p.Val1325=)
10g.71800725A>CCA470062292CDH23c.7452A>C (p.Val2484=)
c.1385A>C (n.1385A>C)
c.1049A>C (n.1049A>C)
c.7467A>C (p.Val2489=)
c.732A>C (p.Val244=)
n.988A>C
c.7647A>C (p.Val2549=)
c.7581A>C (p.Val2527=)
c.7644A>C (p.Val2548=)
c.7641A>C (p.Val2547=)
c.7587A>C (p.Val2529=)
c.7557A>C (p.Val2519=)
c.7512A>C (p.Val2504=)
c.7107A>C (p.Val2369=)
c.6465A>C (p.Val2155=)
c.3975A>C (p.Val1325=)
10g.71800725A>GCA470062290CDH23c.7452A>G (p.Val2484=)
c.1385A>G (n.1385A>G)
c.1049A>G (n.1049A>G)
c.7467A>G (p.Val2489=)
c.732A>G (p.Val244=)
n.988A>G
c.7647A>G (p.Val2549=)
c.7581A>G (p.Val2527=)
c.7644A>G (p.Val2548=)
c.7641A>G (p.Val2547=)
c.7587A>G (p.Val2529=)
c.7557A>G (p.Val2519=)
c.7512A>G (p.Val2504=)
c.7107A>G (p.Val2369=)
c.6465A>G (p.Val2155=)
c.3975A>G (p.Val1325=)
 ClinVar dbSNP
10g.71800725A>TCA470062291CDH23c.7452A>T (p.Val2484=)
c.1385A>T (n.1385A>T)
c.1049A>T (n.1049A>T)
c.7467A>T (p.Val2489=)
c.732A>T (p.Val244=)
n.988A>T
c.7647A>T (p.Val2549=)
c.7581A>T (p.Val2527=)
c.7644A>T (p.Val2548=)
c.7641A>T (p.Val2547=)
c.7587A>T (p.Val2529=)
c.7557A>T (p.Val2519=)
c.7512A>T (p.Val2504=)
c.7107A>T (p.Val2369=)
c.6465A>T (p.Val2155=)
c.3975A>T (p.Val1325=)
10g.71800726G>ACA377159989CDH23c.7453G>A (p.Ala2485Thr)
c.1386G>A (n.1386G>A)
c.1050G>A (n.1050G>A)
c.7468G>A (p.Ala2490Thr)
c.733G>A (p.Ala245Thr)
n.989G>A
c.7648G>A (p.Ala2550Thr)
c.7582G>A (p.Ala2528Thr)
c.7645G>A (p.Ala2549Thr)
c.7642G>A (p.Ala2548Thr)
c.7588G>A (p.Ala2530Thr)
c.7558G>A (p.Ala2520Thr)
c.7513G>A (p.Ala2505Thr)
c.7108G>A (p.Ala2370Thr)
c.6466G>A (p.Ala2156Thr)
c.3976G>A (p.Ala1326Thr)
 gnomAD v4
10g.71800726G>CCA377159990CDH23c.7453G>C (p.Ala2485Pro)
c.1386G>C (n.1386G>C)
c.1050G>C (n.1050G>C)
c.7468G>C (p.Ala2490Pro)
c.733G>C (p.Ala245Pro)
n.989G>C
c.7648G>C (p.Ala2550Pro)
c.7582G>C (p.Ala2528Pro)
c.7645G>C (p.Ala2549Pro)
c.7642G>C (p.Ala2548Pro)
c.7588G>C (p.Ala2530Pro)
c.7558G>C (p.Ala2520Pro)
c.7513G>C (p.Ala2505Pro)
c.7108G>C (p.Ala2370Pro)
c.6466G>C (p.Ala2156Pro)
c.3976G>C (p.Ala1326Pro)
10g.71800726G>TCA377159991CDH23c.7453G>T (p.Ala2485Ser)
c.1386G>T (n.1386G>T)
c.1050G>T (n.1050G>T)
c.7468G>T (p.Ala2490Ser)
c.733G>T (p.Ala245Ser)
n.989G>T
c.7648G>T (p.Ala2550Ser)
c.7582G>T (p.Ala2528Ser)
c.7645G>T (p.Ala2549Ser)
c.7642G>T (p.Ala2548Ser)
c.7588G>T (p.Ala2530Ser)
c.7558G>T (p.Ala2520Ser)
c.7513G>T (p.Ala2505Ser)
c.7108G>T (p.Ala2370Ser)
c.6466G>T (p.Ala2156Ser)
c.3976G>T (p.Ala1326Ser)
10g.71800727C>ACA377159992CDH23c.7454C>A (p.Ala2485Asp)
c.1387C>A (n.1387C>A)
c.1051C>A (n.1051C>A)
c.7469C>A (p.Ala2490Asp)
c.734C>A (p.Ala245Asp)
n.990C>A
c.7649C>A (p.Ala2550Asp)
c.7583C>A (p.Ala2528Asp)
c.7646C>A (p.Ala2549Asp)
c.7643C>A (p.Ala2548Asp)
c.7589C>A (p.Ala2530Asp)
c.7559C>A (p.Ala2520Asp)
c.7514C>A (p.Ala2505Asp)
c.7109C>A (p.Ala2370Asp)
c.6467C>A (p.Ala2156Asp)
c.3977C>A (p.Ala1326Asp)
10g.71800727C>GCA377159993CDH23c.7454C>G (p.Ala2485Gly)
c.1387C>G (n.1387C>G)
c.1051C>G (n.1051C>G)
c.7469C>G (p.Ala2490Gly)
c.734C>G (p.Ala245Gly)
n.990C>G
c.7649C>G (p.Ala2550Gly)
c.7583C>G (p.Ala2528Gly)
c.7646C>G (p.Ala2549Gly)
c.7643C>G (p.Ala2548Gly)
c.7589C>G (p.Ala2530Gly)
c.7559C>G (p.Ala2520Gly)
c.7514C>G (p.Ala2505Gly)
c.7109C>G (p.Ala2370Gly)
c.6467C>G (p.Ala2156Gly)
c.3977C>G (p.Ala1326Gly)
10g.71800727C>TCA377159994CDH23c.7454C>T (p.Ala2485Val)
c.1387C>T (n.1387C>T)
c.1051C>T (n.1051C>T)
c.7469C>T (p.Ala2490Val)
c.734C>T (p.Ala245Val)
n.990C>T
c.7649C>T (p.Ala2550Val)
c.7583C>T (p.Ala2528Val)
c.7646C>T (p.Ala2549Val)
c.7643C>T (p.Ala2548Val)
c.7589C>T (p.Ala2530Val)
c.7559C>T (p.Ala2520Val)
c.7514C>T (p.Ala2505Val)
c.7109C>T (p.Ala2370Val)
c.6467C>T (p.Ala2156Val)
c.3977C>T (p.Ala1326Val)
10g.71800728C>ACA470062293CDH23c.7455C>A (p.Ala2485=)
c.1388C>A (n.1388C>A)
c.1052C>A (n.1052C>A)
c.7470C>A (p.Ala2490=)
c.735C>A (p.Ala245=)
n.991C>A
c.7650C>A (p.Ala2550=)
c.7584C>A (p.Ala2528=)
c.7647C>A (p.Ala2549=)
c.7644C>A (p.Ala2548=)
c.7590C>A (p.Ala2530=)
c.7560C>A (p.Ala2520=)
c.7515C>A (p.Ala2505=)
c.7110C>A (p.Ala2370=)
c.6468C>A (p.Ala2156=)
c.3978C>A (p.Ala1326=)
 dbSNP
10g.71800728C=CA1918879423CDH23c.7455C= (p.Ala2485=)
c.1388C= (n.1388C=)
c.1052C= (n.1052C=)
c.7470C= (p.Ala2490=)
c.735C= (p.Ala245=)
n.991C=
c.7650C= (p.Ala2550=)
c.7584C= (p.Ala2528=)
c.7647C= (p.Ala2549=)
c.7644C= (p.Ala2548=)
c.7590C= (p.Ala2530=)
c.7560C= (p.Ala2520=)
c.7515C= (p.Ala2505=)
c.7110C= (p.Ala2370=)
c.6468C= (p.Ala2156=)
c.3978C= (p.Ala1326=)
10g.71800728C>GCA470062294CDH23c.7455C>G (p.Ala2485=)
c.1388C>G (n.1388C>G)
c.1052C>G (n.1052C>G)
c.7470C>G (p.Ala2490=)
c.735C>G (p.Ala245=)
n.991C>G
c.7650C>G (p.Ala2550=)
c.7584C>G (p.Ala2528=)
c.7647C>G (p.Ala2549=)
c.7644C>G (p.Ala2548=)
c.7590C>G (p.Ala2530=)
c.7560C>G (p.Ala2520=)
c.7515C>G (p.Ala2505=)
c.7110C>G (p.Ala2370=)
c.6468C>G (p.Ala2156=)
c.3978C>G (p.Ala1326=)
 dbSNP gnomAD v3 gnomAD v4
10g.71800728C>TCA5546351CDH23c.7455C>T (p.Ala2485=)
c.1388C>T (n.1388C>T)
c.1052C>T (n.1052C>T)
c.7470C>T (p.Ala2490=)
c.735C>T (p.Ala245=)
n.991C>T
c.7650C>T (p.Ala2550=)
c.7584C>T (p.Ala2528=)
c.7647C>T (p.Ala2549=)
c.7644C>T (p.Ala2548=)
c.7590C>T (p.Ala2530=)
c.7560C>T (p.Ala2520=)
c.7515C>T (p.Ala2505=)
c.7110C>T (p.Ala2370=)
c.6468C>T (p.Ala2156=)
c.3978C>T (p.Ala1326=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71800729A>CCA377159995CDH23c.7456A>C (p.Ser2486Arg)
c.1389A>C (n.1389A>C)
c.1053A>C (n.1053A>C)
c.7471A>C (p.Ser2491Arg)
c.736A>C (p.Ser246Arg)
n.992A>C
c.7651A>C (p.Ser2551Arg)
c.7585A>C (p.Ser2529Arg)
c.7648A>C (p.Ser2550Arg)
c.7645A>C (p.Ser2549Arg)
c.7591A>C (p.Ser2531Arg)
c.7561A>C (p.Ser2521Arg)
c.7516A>C (p.Ser2506Arg)
c.7111A>C (p.Ser2371Arg)
c.6469A>C (p.Ser2157Arg)
c.3979A>C (p.Ser1327Arg)
10g.71800729A>GCA377159996CDH23c.7456A>G (p.Ser2486Gly)
c.1389A>G (n.1389A>G)
c.1053A>G (n.1053A>G)
c.7471A>G (p.Ser2491Gly)
c.736A>G (p.Ser246Gly)
n.992A>G
c.7651A>G (p.Ser2551Gly)
c.7585A>G (p.Ser2529Gly)
c.7648A>G (p.Ser2550Gly)
c.7645A>G (p.Ser2549Gly)
c.7591A>G (p.Ser2531Gly)
c.7561A>G (p.Ser2521Gly)
c.7516A>G (p.Ser2506Gly)
c.7111A>G (p.Ser2371Gly)
c.6469A>G (p.Ser2157Gly)
c.3979A>G (p.Ser1327Gly)
10g.71800729A>TCA377159997CDH23c.7456A>T (p.Ser2486Cys)
c.1389A>T (n.1389A>T)
c.1053A>T (n.1053A>T)
c.7471A>T (p.Ser2491Cys)
c.736A>T (p.Ser246Cys)
n.992A>T
c.7651A>T (p.Ser2551Cys)
c.7585A>T (p.Ser2529Cys)
c.7648A>T (p.Ser2550Cys)
c.7645A>T (p.Ser2549Cys)
c.7591A>T (p.Ser2531Cys)
c.7561A>T (p.Ser2521Cys)
c.7516A>T (p.Ser2506Cys)
c.7111A>T (p.Ser2371Cys)
c.6469A>T (p.Ser2157Cys)
c.3979A>T (p.Ser1327Cys)
10g.71800730G>ACA377160000CDH23c.7457G>A (p.Ser2486Asn)
c.1390G>A (n.1390G>A)
c.1054G>A (n.1054G>A)
c.7472G>A (p.Ser2491Asn)
c.737G>A (p.Ser246Asn)
n.993G>A
c.7652G>A (p.Ser2551Asn)
c.7586G>A (p.Ser2529Asn)
c.7649G>A (p.Ser2550Asn)
c.7646G>A (p.Ser2549Asn)
c.7592G>A (p.Ser2531Asn)
c.7562G>A (p.Ser2521Asn)
c.7517G>A (p.Ser2506Asn)
c.7112G>A (p.Ser2371Asn)
c.6470G>A (p.Ser2157Asn)
c.3980G>A (p.Ser1327Asn)
 dbSNP
10g.71800730G>CCA377159998CDH23c.7457G>C (p.Ser2486Thr)
c.1390G>C (n.1390G>C)
c.1054G>C (n.1054G>C)
c.7472G>C (p.Ser2491Thr)
c.737G>C (p.Ser246Thr)
n.993G>C
c.7652G>C (p.Ser2551Thr)
c.7586G>C (p.Ser2529Thr)
c.7649G>C (p.Ser2550Thr)
c.7646G>C (p.Ser2549Thr)
c.7592G>C (p.Ser2531Thr)
c.7562G>C (p.Ser2521Thr)
c.7517G>C (p.Ser2506Thr)
c.7112G>C (p.Ser2371Thr)
c.6470G>C (p.Ser2157Thr)
c.3980G>C (p.Ser1327Thr)
10g.71800730G>TCA377159999CDH23c.7457G>T (p.Ser2486Ile)
c.1390G>T (n.1390G>T)
c.1054G>T (n.1054G>T)
c.7472G>T (p.Ser2491Ile)
c.737G>T (p.Ser246Ile)
n.993G>T
c.7652G>T (p.Ser2551Ile)
c.7586G>T (p.Ser2529Ile)
c.7649G>T (p.Ser2550Ile)
c.7646G>T (p.Ser2549Ile)
c.7592G>T (p.Ser2531Ile)
c.7562G>T (p.Ser2521Ile)
c.7517G>T (p.Ser2506Ile)
c.7112G>T (p.Ser2371Ile)
c.6470G>T (p.Ser2157Ile)
c.3980G>T (p.Ser1327Ile)
10g.71800731C>ACA209471159CDH23c.7458C>A (p.Ser2486Arg)
c.1391C>A (n.1391C>A)
c.1055C>A (n.1055C>A)
c.7473C>A (p.Ser2491Arg)
c.738C>A (p.Ser246Arg)
n.994C>A
c.7653C>A (p.Ser2551Arg)
c.7587C>A (p.Ser2529Arg)
c.7650C>A (p.Ser2550Arg)
c.7647C>A (p.Ser2549Arg)
c.7593C>A (p.Ser2531Arg)
c.7563C>A (p.Ser2521Arg)
c.7518C>A (p.Ser2506Arg)
c.7113C>A (p.Ser2371Arg)
c.6471C>A (p.Ser2157Arg)
c.3981C>A (p.Ser1327Arg)
 dbSNP
10g.71800731C=CA1918879424CDH23c.7458C= (p.Ser2486=)
c.1391C= (n.1391C=)
c.1055C= (n.1055C=)
c.7473C= (p.Ser2491=)
c.738C= (p.Ser246=)
n.994C=
c.7653C= (p.Ser2551=)
c.7587C= (p.Ser2529=)
c.7650C= (p.Ser2550=)
c.7647C= (p.Ser2549=)
c.7593C= (p.Ser2531=)
c.7563C= (p.Ser2521=)
c.7518C= (p.Ser2506=)
c.7113C= (p.Ser2371=)
c.6471C= (p.Ser2157=)
c.3981C= (p.Ser1327=)
10g.71800731C>GCA377160001CDH23c.7458C>G (p.Ser2486Arg)
c.1391C>G (n.1391C>G)
c.1055C>G (n.1055C>G)
c.7473C>G (p.Ser2491Arg)
c.738C>G (p.Ser246Arg)
n.994C>G
c.7653C>G (p.Ser2551Arg)
c.7587C>G (p.Ser2529Arg)
c.7650C>G (p.Ser2550Arg)
c.7647C>G (p.Ser2549Arg)
c.7593C>G (p.Ser2531Arg)
c.7563C>G (p.Ser2521Arg)
c.7518C>G (p.Ser2506Arg)
c.7113C>G (p.Ser2371Arg)
c.6471C>G (p.Ser2157Arg)
c.3981C>G (p.Ser1327Arg)
 COSMIC
10g.71800731C>TCA470062295CDH23c.7458C>T (p.Ser2486=)
c.1391C>T (n.1391C>T)
c.1055C>T (n.1055C>T)
c.7473C>T (p.Ser2491=)
c.738C>T (p.Ser246=)
n.994C>T
c.7653C>T (p.Ser2551=)
c.7587C>T (p.Ser2529=)
c.7650C>T (p.Ser2550=)
c.7647C>T (p.Ser2549=)
c.7593C>T (p.Ser2531=)
c.7563C>T (p.Ser2521=)
c.7518C>T (p.Ser2506=)
c.7113C>T (p.Ser2371=)
c.6471C>T (p.Ser2157=)
c.3981C>T (p.Ser1327=)
10g.71800732A>CCA377160002CDH23c.7459A>C (p.Asn2487His)
c.1392A>C (n.1392A>C)
c.1056A>C (n.1056A>C)
c.7474A>C (p.Asn2492His)
c.739A>C (p.Asn247His)
n.995A>C
c.7654A>C (p.Asn2552His)
c.7588A>C (p.Asn2530His)
c.7651A>C (p.Asn2551His)
c.7648A>C (p.Asn2550His)
c.7594A>C (p.Asn2532His)
c.7564A>C (p.Asn2522His)
c.7519A>C (p.Asn2507His)
c.7114A>C (p.Asn2372His)
c.6472A>C (p.Asn2158His)
c.3982A>C (p.Asn1328His)
10g.71800732A>GCA377160003CDH23c.7459A>G (p.Asn2487Asp)
c.1392A>G (n.1392A>G)
c.1056A>G (n.1056A>G)
c.7474A>G (p.Asn2492Asp)
c.739A>G (p.Asn247Asp)
n.995A>G
c.7654A>G (p.Asn2552Asp)
c.7588A>G (p.Asn2530Asp)
c.7651A>G (p.Asn2551Asp)
c.7648A>G (p.Asn2550Asp)
c.7594A>G (p.Asn2532Asp)
c.7564A>G (p.Asn2522Asp)
c.7519A>G (p.Asn2507Asp)
c.7114A>G (p.Asn2372Asp)
c.6472A>G (p.Asn2158Asp)
c.3982A>G (p.Asn1328Asp)
10g.71800732A>TCA377160004CDH23c.7459A>T (p.Asn2487Tyr)
c.1392A>T (n.1392A>T)
c.1056A>T (n.1056A>T)
c.7474A>T (p.Asn2492Tyr)
c.739A>T (p.Asn247Tyr)
n.995A>T
c.7654A>T (p.Asn2552Tyr)
c.7588A>T (p.Asn2530Tyr)
c.7651A>T (p.Asn2551Tyr)
c.7648A>T (p.Asn2550Tyr)
c.7594A>T (p.Asn2532Tyr)
c.7564A>T (p.Asn2522Tyr)
c.7519A>T (p.Asn2507Tyr)
c.7114A>T (p.Asn2372Tyr)
c.6472A>T (p.Asn2158Tyr)
c.3982A>T (p.Asn1328Tyr)
10g.71800733A>CCA377160005CDH23c.7460A>C (p.Asn2487Thr)
c.1393A>C (n.1393A>C)
c.1057A>C (n.1057A>C)
c.7475A>C (p.Asn2492Thr)
c.740A>C (p.Asn247Thr)
n.996A>C
c.7655A>C (p.Asn2552Thr)
c.7589A>C (p.Asn2530Thr)
c.7652A>C (p.Asn2551Thr)
c.7649A>C (p.Asn2550Thr)
c.7595A>C (p.Asn2532Thr)
c.7565A>C (p.Asn2522Thr)
c.7520A>C (p.Asn2507Thr)
c.7115A>C (p.Asn2372Thr)
c.6473A>C (p.Asn2158Thr)
c.3983A>C (p.Asn1328Thr)
10g.71800733A>GCA377160006CDH23c.7460A>G (p.Asn2487Ser)
c.1393A>G (n.1393A>G)
c.1057A>G (n.1057A>G)
c.7475A>G (p.Asn2492Ser)
c.740A>G (p.Asn247Ser)
n.996A>G
c.7655A>G (p.Asn2552Ser)
c.7589A>G (p.Asn2530Ser)
c.7652A>G (p.Asn2551Ser)
c.7649A>G (p.Asn2550Ser)
c.7595A>G (p.Asn2532Ser)
c.7565A>G (p.Asn2522Ser)
c.7520A>G (p.Asn2507Ser)
c.7115A>G (p.Asn2372Ser)
c.6473A>G (p.Asn2158Ser)
c.3983A>G (p.Asn1328Ser)
10g.71800733A>TCA377160007CDH23c.7460A>T (p.Asn2487Ile)
c.1393A>T (n.1393A>T)
c.1057A>T (n.1057A>T)
c.7475A>T (p.Asn2492Ile)
c.740A>T (p.Asn247Ile)
n.996A>T
c.7655A>T (p.Asn2552Ile)
c.7589A>T (p.Asn2530Ile)
c.7652A>T (p.Asn2551Ile)
c.7649A>T (p.Asn2550Ile)
c.7595A>T (p.Asn2532Ile)
c.7565A>T (p.Asn2522Ile)
c.7520A>T (p.Asn2507Ile)
c.7115A>T (p.Asn2372Ile)
c.6473A>T (p.Asn2158Ile)
c.3983A>T (p.Asn1328Ile)
10g.71800734C>ACA377160008CDH23c.7461C>A (p.Asn2487Lys)
c.1394C>A (n.1394C>A)
c.1058C>A (n.1058C>A)
c.7476C>A (p.Asn2492Lys)
c.741C>A (p.Asn247Lys)
n.997C>A
c.7656C>A (p.Asn2552Lys)
c.7590C>A (p.Asn2530Lys)
c.7653C>A (p.Asn2551Lys)
c.7650C>A (p.Asn2550Lys)
c.7596C>A (p.Asn2532Lys)
c.7566C>A (p.Asn2522Lys)
c.7521C>A (p.Asn2507Lys)
c.7116C>A (p.Asn2372Lys)
c.6474C>A (p.Asn2158Lys)
c.3984C>A (p.Asn1328Lys)
10g.71800734C=CA1918879425CDH23c.7461C= (p.Asn2487=)
c.1394C= (n.1394C=)
c.1058C= (n.1058C=)
c.7476C= (p.Asn2492=)
c.741C= (p.Asn247=)
n.997C=
c.7656C= (p.Asn2552=)
c.7590C= (p.Asn2530=)
c.7653C= (p.Asn2551=)
c.7650C= (p.Asn2550=)
c.7596C= (p.Asn2532=)
c.7566C= (p.Asn2522=)
c.7521C= (p.Asn2507=)
c.7116C= (p.Asn2372=)
c.6474C= (p.Asn2158=)
c.3984C= (p.Asn1328=)
10g.71800734C>GCA377160009CDH23c.7461C>G (p.Asn2487Lys)
c.1394C>G (n.1394C>G)
c.1058C>G (n.1058C>G)
c.7476C>G (p.Asn2492Lys)
c.741C>G (p.Asn247Lys)
n.997C>G
c.7656C>G (p.Asn2552Lys)
c.7590C>G (p.Asn2530Lys)
c.7653C>G (p.Asn2551Lys)
c.7650C>G (p.Asn2550Lys)
c.7596C>G (p.Asn2532Lys)
c.7566C>G (p.Asn2522Lys)
c.7521C>G (p.Asn2507Lys)
c.7116C>G (p.Asn2372Lys)
c.6474C>G (p.Asn2158Lys)
c.3984C>G (p.Asn1328Lys)
10g.71800734C>TCA5546352CDH23c.7461C>T (p.Asn2487=)
c.1394C>T (n.1394C>T)
c.1058C>T (n.1058C>T)
c.7476C>T (p.Asn2492=)
c.741C>T (p.Asn247=)
n.997C>T
c.7656C>T (p.Asn2552=)
c.7590C>T (p.Asn2530=)
c.7653C>T (p.Asn2551=)
c.7650C>T (p.Asn2550=)
c.7596C>T (p.Asn2532=)
c.7566C>T (p.Asn2522=)
c.7521C>T (p.Asn2507=)
c.7116C>T (p.Asn2372=)
c.6474C>T (p.Asn2158=)
c.3984C>T (p.Asn1328=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71800735C>ACA377160011CDH23c.7462C>A (p.Arg2488Ser)
c.1395C>A (n.1395C>A)
c.1059C>A (n.1059C>A)
c.7477C>A (p.Arg2493Ser)
c.742C>A (p.Arg248Ser)
n.998C>A
c.7657C>A (p.Arg2553Ser)
c.7591C>A (p.Arg2531Ser)
c.7654C>A (p.Arg2552Ser)
c.7651C>A (p.Arg2551Ser)
c.7597C>A (p.Arg2533Ser)
c.7567C>A (p.Arg2523Ser)
c.7522C>A (p.Arg2508Ser)
c.7117C>A (p.Arg2373Ser)
c.6475C>A (p.Arg2159Ser)
c.3985C>A (p.Arg1329Ser)
10g.71800735C=CA1918879426CDH23c.7462C= (p.Arg2488=)
c.1395C= (n.1395C=)
c.1059C= (n.1059C=)
c.7477C= (p.Arg2493=)
c.742C= (p.Arg248=)
n.998C=
c.7657C= (p.Arg2553=)
c.7591C= (p.Arg2531=)
c.7654C= (p.Arg2552=)
c.7651C= (p.Arg2551=)
c.7597C= (p.Arg2533=)
c.7567C= (p.Arg2523=)
c.7522C= (p.Arg2508=)
c.7117C= (p.Arg2373=)
c.6475C= (p.Arg2159=)
c.3985C= (p.Arg1329=)
10g.71800735C>GCA377160010CDH23c.7462C>G (p.Arg2488Gly)
c.1395C>G (n.1395C>G)
c.1059C>G (n.1059C>G)
c.7477C>G (p.Arg2493Gly)
c.742C>G (p.Arg248Gly)
n.998C>G
c.7657C>G (p.Arg2553Gly)
c.7591C>G (p.Arg2531Gly)
c.7654C>G (p.Arg2552Gly)
c.7651C>G (p.Arg2551Gly)
c.7597C>G (p.Arg2533Gly)
c.7567C>G (p.Arg2523Gly)
c.7522C>G (p.Arg2508Gly)
c.7117C>G (p.Arg2373Gly)
c.6475C>G (p.Arg2159Gly)
c.3985C>G (p.Arg1329Gly)
10g.71800735C>TCA209471167CDH23c.7462C>T (p.Arg2488Cys)
c.1395C>T (n.1395C>T)
c.1059C>T (n.1059C>T)
c.7477C>T (p.Arg2493Cys)
c.742C>T (p.Arg248Cys)
n.998C>T
c.7657C>T (p.Arg2553Cys)
c.7591C>T (p.Arg2531Cys)
c.7654C>T (p.Arg2552Cys)
c.7651C>T (p.Arg2551Cys)
c.7597C>T (p.Arg2533Cys)
c.7567C>T (p.Arg2523Cys)
c.7522C>T (p.Arg2508Cys)
c.7117C>T (p.Arg2373Cys)
c.6475C>T (p.Arg2159Cys)
c.3985C>T (p.Arg1329Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.71800736G>ACA175515CDH23c.7463G>A (p.Arg2488His)
c.1396G>A (n.1396G>A)
c.1060G>A (n.1060G>A)
c.7478G>A (p.Arg2493His)
c.743G>A (p.Arg248His)
n.999G>A
c.7658G>A (p.Arg2553His)
c.7592G>A (p.Arg2531His)
c.7655G>A (p.Arg2552His)
c.7652G>A (p.Arg2551His)
c.7598G>A (p.Arg2533His)
c.7568G>A (p.Arg2523His)
c.7523G>A (p.Arg2508His)
c.7118G>A (p.Arg2373His)
c.6476G>A (p.Arg2159His)
c.3986G>A (p.Arg1329His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71800736G>CCA377160012CDH23c.7463G>C (p.Arg2488Pro)
c.1396G>C (n.1396G>C)
c.1060G>C (n.1060G>C)
c.7478G>C (p.Arg2493Pro)
c.743G>C (p.Arg248Pro)
n.999G>C
c.7658G>C (p.Arg2553Pro)
c.7592G>C (p.Arg2531Pro)
c.7655G>C (p.Arg2552Pro)
c.7652G>C (p.Arg2551Pro)
c.7598G>C (p.Arg2533Pro)
c.7568G>C (p.Arg2523Pro)
c.7523G>C (p.Arg2508Pro)
c.7118G>C (p.Arg2373Pro)
c.6476G>C (p.Arg2159Pro)
c.3986G>C (p.Arg1329Pro)
10g.71800736G=CA1918879427CDH23c.7463G= (p.Arg2488=)
c.1396G= (n.1396G=)
c.1060G= (n.1060G=)
c.7478G= (p.Arg2493=)
c.743G= (p.Arg248=)
n.999G=
c.7658G= (p.Arg2553=)
c.7592G= (p.Arg2531=)
c.7655G= (p.Arg2552=)
c.7652G= (p.Arg2551=)
c.7598G= (p.Arg2533=)
c.7568G= (p.Arg2523=)
c.7523G= (p.Arg2508=)
c.7118G= (p.Arg2373=)
c.6476G= (p.Arg2159=)
c.3986G= (p.Arg1329=)
10g.71800736G>TCA377160013CDH23c.7463G>T (p.Arg2488Leu)
c.1396G>T (n.1396G>T)
c.1060G>T (n.1060G>T)
c.7478G>T (p.Arg2493Leu)
c.743G>T (p.Arg248Leu)
n.999G>T
c.7658G>T (p.Arg2553Leu)
c.7592G>T (p.Arg2531Leu)
c.7655G>T (p.Arg2552Leu)
c.7652G>T (p.Arg2551Leu)
c.7598G>T (p.Arg2533Leu)
c.7568G>T (p.Arg2523Leu)
c.7523G>T (p.Arg2508Leu)
c.7118G>T (p.Arg2373Leu)
c.6476G>T (p.Arg2159Leu)
c.3986G>T (p.Arg1329Leu)
10g.71800737T>ACA470062296CDH23c.7464T>A (p.Arg2488=)
c.1397T>A (n.1397T>A)
c.1061T>A (n.1061T>A)
c.7479T>A (p.Arg2493=)
c.744T>A (p.Arg248=)
n.1000T>A
c.7659T>A (p.Arg2553=)
c.7593T>A (p.Arg2531=)
c.7656T>A (p.Arg2552=)
c.7653T>A (p.Arg2551=)
c.7599T>A (p.Arg2533=)
c.7569T>A (p.Arg2523=)
c.7524T>A (p.Arg2508=)
c.7119T>A (p.Arg2373=)
c.6477T>A (p.Arg2159=)
c.3987T>A (p.Arg1329=)
 dbSNP gnomAD v2 gnomAD v4
10g.71800737T>CCA470062297CDH23c.7464T>C (p.Arg2488=)
c.1397T>C (n.1397T>C)
c.1061T>C (n.1061T>C)
c.7479T>C (p.Arg2493=)
c.744T>C (p.Arg248=)
n.1000T>C
c.7659T>C (p.Arg2553=)
c.7593T>C (p.Arg2531=)
c.7656T>C (p.Arg2552=)
c.7653T>C (p.Arg2551=)
c.7599T>C (p.Arg2533=)
c.7569T>C (p.Arg2523=)
c.7524T>C (p.Arg2508=)
c.7119T>C (p.Arg2373=)
c.6477T>C (p.Arg2159=)
c.3987T>C (p.Arg1329=)
10g.71800737T>GCA470062298CDH23c.7464T>G (p.Arg2488=)
c.1397T>G (n.1397T>G)
c.1061T>G (n.1061T>G)
c.7479T>G (p.Arg2493=)
c.744T>G (p.Arg248=)
n.1000T>G
c.7659T>G (p.Arg2553=)
c.7593T>G (p.Arg2531=)
c.7656T>G (p.Arg2552=)
c.7653T>G (p.Arg2551=)
c.7599T>G (p.Arg2533=)
c.7569T>G (p.Arg2523=)
c.7524T>G (p.Arg2508=)
c.7119T>G (p.Arg2373=)
c.6477T>G (p.Arg2159=)
c.3987T>G (p.Arg1329=)
10g.71800737T=CA1918879428CDH23c.7464T= (p.Arg2488=)
c.1397T= (n.1397T=)
c.1061T= (n.1061T=)
c.7479T= (p.Arg2493=)
c.744T= (p.Arg248=)
n.1000T=
c.7659T= (p.Arg2553=)
c.7593T= (p.Arg2531=)
c.7656T= (p.Arg2552=)
c.7653T= (p.Arg2551=)
c.7599T= (p.Arg2533=)
c.7569T= (p.Arg2523=)
c.7524T= (p.Arg2508=)
c.7119T= (p.Arg2373=)
c.6477T= (p.Arg2159=)
c.3987T= (p.Arg1329=)
10g.71800738C>ACA377160014CDH23c.7465C>A (p.Arg2489Ser)
c.1398C>A (n.1398C>A)
c.1062C>A (n.1062C>A)
c.7480C>A (p.Arg2494Ser)
c.745C>A (p.Arg249Ser)
n.1001C>A
c.7660C>A (p.Arg2554Ser)
c.7594C>A (p.Arg2532Ser)
c.7657C>A (p.Arg2553Ser)
c.7654C>A (p.Arg2552Ser)
c.7600C>A (p.Arg2534Ser)
c.7570C>A (p.Arg2524Ser)
c.7525C>A (p.Arg2509Ser)
c.7120C>A (p.Arg2374Ser)
c.6478C>A (p.Arg2160Ser)
c.3988C>A (p.Arg1330Ser)
10g.71800738C=CA1918879429CDH23c.7465C= (p.Arg2489=)
c.1398C= (n.1398C=)
c.1062C= (n.1062C=)
c.7480C= (p.Arg2494=)
c.745C= (p.Arg249=)
n.1001C=
c.7660C= (p.Arg2554=)
c.7594C= (p.Arg2532=)
c.7657C= (p.Arg2553=)
c.7654C= (p.Arg2552=)
c.7600C= (p.Arg2534=)
c.7570C= (p.Arg2524=)
c.7525C= (p.Arg2509=)
c.7120C= (p.Arg2374=)
c.6478C= (p.Arg2160=)
c.3988C= (p.Arg1330=)
10g.71800738C>GCA16605681CDH23c.7465C>G (p.Arg2489Gly)
c.1398C>G (n.1398C>G)
c.1062C>G (n.1062C>G)
c.7480C>G (p.Arg2494Gly)
c.745C>G (p.Arg249Gly)
n.1001C>G
c.7660C>G (p.Arg2554Gly)
c.7594C>G (p.Arg2532Gly)
c.7657C>G (p.Arg2553Gly)
c.7654C>G (p.Arg2552Gly)
c.7600C>G (p.Arg2534Gly)
c.7570C>G (p.Arg2524Gly)
c.7525C>G (p.Arg2509Gly)
c.7120C>G (p.Arg2374Gly)
c.6478C>G (p.Arg2160Gly)
c.3988C>G (p.Arg1330Gly)
 ClinVar dbSNP
10g.71800738C>TCA5546353CDH23c.7465C>T (p.Arg2489Cys)
c.1398C>T (n.1398C>T)
c.1062C>T (n.1062C>T)
c.7480C>T (p.Arg2494Cys)
c.745C>T (p.Arg249Cys)
n.1001C>T
c.7660C>T (p.Arg2554Cys)
c.7594C>T (p.Arg2532Cys)
c.7657C>T (p.Arg2553Cys)
c.7654C>T (p.Arg2552Cys)
c.7600C>T (p.Arg2534Cys)
c.7570C>T (p.Arg2524Cys)
c.7525C>T (p.Arg2509Cys)
c.7120C>T (p.Arg2374Cys)
c.6478C>T (p.Arg2160Cys)
c.3988C>T (p.Arg1330Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71800739G>ACA5546354CDH23c.7466G>A (p.Arg2489His)
c.1399G>A (n.1399G>A)
c.1063G>A (n.1063G>A)
c.7481G>A (p.Arg2494His)
c.746G>A (p.Arg249His)
n.1002G>A
c.7661G>A (p.Arg2554His)
c.7595G>A (p.Arg2532His)
c.7658G>A (p.Arg2553His)
c.7655G>A (p.Arg2552His)
c.7601G>A (p.Arg2534His)
c.7571G>A (p.Arg2524His)
c.7526G>A (p.Arg2509His)
c.7121G>A (p.Arg2374His)
c.6479G>A (p.Arg2160His)
c.3989G>A (p.Arg1330His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.71800739G>CCA377160015CDH23c.7466G>C (p.Arg2489Pro)
c.1399G>C (n.1399G>C)
c.1063G>C (n.1063G>C)
c.7481G>C (p.Arg2494Pro)
c.746G>C (p.Arg249Pro)
n.1002G>C
c.7661G>C (p.Arg2554Pro)
c.7595G>C (p.Arg2532Pro)
c.7658G>C (p.Arg2553Pro)
c.7655G>C (p.Arg2552Pro)
c.7601G>C (p.Arg2534Pro)
c.7571G>C (p.Arg2524Pro)
c.7526G>C (p.Arg2509Pro)
c.7121G>C (p.Arg2374Pro)
c.6479G>C (p.Arg2160Pro)
c.3989G>C (p.Arg1330Pro)
10g.71800739G=CA1918879430CDH23c.7466G= (p.Arg2489=)
c.1399G= (n.1399G=)
c.1063G= (n.1063G=)
c.7481G= (p.Arg2494=)
c.746G= (p.Arg249=)
n.1002G=
c.7661G= (p.Arg2554=)
c.7595G= (p.Arg2532=)
c.7658G= (p.Arg2553=)
c.7655G= (p.Arg2552=)
c.7601G= (p.Arg2534=)
c.7571G= (p.Arg2524=)
c.7526G= (p.Arg2509=)
c.7121G= (p.Arg2374=)
c.6479G= (p.Arg2160=)
c.3989G= (p.Arg1330=)
10g.71800739G>TCA377160016CDH23c.7466G>T (p.Arg2489Leu)
c.1399G>T (n.1399G>T)
c.1063G>T (n.1063G>T)
c.7481G>T (p.Arg2494Leu)
c.746G>T (p.Arg249Leu)
n.1002G>T
c.7661G>T (p.Arg2554Leu)
c.7595G>T (p.Arg2532Leu)
c.7658G>T (p.Arg2553Leu)
c.7655G>T (p.Arg2552Leu)
c.7601G>T (p.Arg2534Leu)
c.7571G>T (p.Arg2524Leu)
c.7526G>T (p.Arg2509Leu)
c.7121G>T (p.Arg2374Leu)
c.6479G>T (p.Arg2160Leu)
c.3989G>T (p.Arg1330Leu)
10g.71800740C>ACA470062299CDH23c.7467C>A (p.Arg2489=)
c.1400C>A (n.1400C>A)
c.1064C>A (n.1064C>A)
c.7482C>A (p.Arg2494=)
c.747C>A (p.Arg249=)
n.1003C>A
c.7662C>A (p.Arg2554=)
c.7596C>A (p.Arg2532=)
c.7659C>A (p.Arg2553=)
c.7656C>A (p.Arg2552=)
c.7602C>A (p.Arg2534=)
c.7572C>A (p.Arg2524=)
c.7527C>A (p.Arg2509=)
c.7122C>A (p.Arg2374=)
c.6480C>A (p.Arg2160=)
c.3990C>A (p.Arg1330=)
10g.71800740C=CA1918879431CDH23c.7467C= (p.Arg2489=)
c.1400C= (n.1400C=)
c.1064C= (n.1064C=)
c.7482C= (p.Arg2494=)
c.747C= (p.Arg249=)
n.1003C=
c.7662C= (p.Arg2554=)
c.7596C= (p.Arg2532=)
c.7659C= (p.Arg2553=)
c.7656C= (p.Arg2552=)
c.7602C= (p.Arg2534=)
c.7572C= (p.Arg2524=)
c.7527C= (p.Arg2509=)
c.7122C= (p.Arg2374=)
c.6480C= (p.Arg2160=)
c.3990C= (p.Arg1330=)
10g.71800740C>GCA470062300CDH23c.7467C>G (p.Arg2489=)
c.1400C>G (n.1400C>G)
c.1064C>G (n.1064C>G)
c.7482C>G (p.Arg2494=)
c.747C>G (p.Arg249=)
n.1003C>G
c.7662C>G (p.Arg2554=)
c.7596C>G (p.Arg2532=)
c.7659C>G (p.Arg2553=)
c.7656C>G (p.Arg2552=)
c.7602C>G (p.Arg2534=)
c.7572C>G (p.Arg2524=)
c.7527C>G (p.Arg2509=)
c.7122C>G (p.Arg2374=)
c.6480C>G (p.Arg2160=)
c.3990C>G (p.Arg1330=)
 gnomAD v4
10g.71800740C>TCA137569CDH23c.7467C>T (p.Arg2489=)
c.1400C>T (n.1400C>T)
c.1064C>T (n.1064C>T)
c.7482C>T (p.Arg2494=)
c.747C>T (p.Arg249=)
n.1003C>T
c.7662C>T (p.Arg2554=)
c.7596C>T (p.Arg2532=)
c.7659C>T (p.Arg2553=)
c.7656C>T (p.Arg2552=)
c.7602C>T (p.Arg2534=)
c.7572C>T (p.Arg2524=)
c.7527C>T (p.Arg2509=)
c.7122C>T (p.Arg2374=)
c.6480C>T (p.Arg2160=)
c.3990C>T (p.Arg1330=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71800741G>ACA137571CDH23c.7468G>A (p.Glu2490Lys)
c.1401G>A (n.1401G>A)
c.1065G>A (n.1065G>A)
c.7483G>A (p.Glu2495Lys)
c.748G>A (p.Glu250Lys)
n.1004G>A
c.7663G>A (p.Glu2555Lys)
c.7597G>A (p.Glu2533Lys)
c.7660G>A (p.Glu2554Lys)
c.7657G>A (p.Glu2553Lys)
c.7603G>A (p.Glu2535Lys)
c.7573G>A (p.Glu2525Lys)
c.7528G>A (p.Glu2510Lys)
c.7123G>A (p.Glu2375Lys)
c.6481G>A (p.Glu2161Lys)
c.3991G>A (p.Glu1331Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.71800741G>CCA377160017CDH23c.7468G>C (p.Glu2490Gln)
c.1401G>C (n.1401G>C)
c.1065G>C (n.1065G>C)
c.7483G>C (p.Glu2495Gln)
c.748G>C (p.Glu250Gln)
n.1004G>C
c.7663G>C (p.Glu2555Gln)
c.7597G>C (p.Glu2533Gln)
c.7660G>C (p.Glu2554Gln)
c.7657G>C (p.Glu2553Gln)
c.7603G>C (p.Glu2535Gln)
c.7573G>C (p.Glu2525Gln)
c.7528G>C (p.Glu2510Gln)
c.7123G>C (p.Glu2375Gln)
c.6481G>C (p.Glu2161Gln)
c.3991G>C (p.Glu1331Gln)
 dbSNP gnomAD v2 gnomAD v4
10g.71800741G=CA1918879432CDH23c.7468G= (p.Glu2490=)
c.1401G= (n.1401G=)
c.1065G= (n.1065G=)
c.7483G= (p.Glu2495=)
c.748G= (p.Glu250=)
n.1004G=
c.7663G= (p.Glu2555=)
c.7597G= (p.Glu2533=)
c.7660G= (p.Glu2554=)
c.7657G= (p.Glu2553=)
c.7603G= (p.Glu2535=)
c.7573G= (p.Glu2525=)
c.7528G= (p.Glu2510=)
c.7123G= (p.Glu2375=)
c.6481G= (p.Glu2161=)
c.3991G= (p.Glu1331=)
10g.71800741G>TCA377160018CDH23c.7468G>T (p.Glu2490Ter)
c.1401G>T (n.1401G>T)
c.1065G>T (n.1065G>T)
c.7483G>T (p.Glu2495Ter)
c.748G>T (p.Glu250Ter)
n.1004G>T
c.7663G>T (p.Glu2555Ter)
c.7597G>T (p.Glu2533Ter)
c.7660G>T (p.Glu2554Ter)
c.7657G>T (p.Glu2553Ter)
c.7603G>T (p.Glu2535Ter)
c.7573G>T (p.Glu2525Ter)
c.7528G>T (p.Glu2510Ter)
c.7123G>T (p.Glu2375Ter)
c.6481G>T (p.Glu2161Ter)
c.3991G>T (p.Glu1331Ter)
10g.71800741_71800742delCA2788480632CDH23c.7468_7469del (p.Glu2490LysfsTer14)
c.1401_1402del (n.1401_1402del)
c.1065_1066del (n.1065_1066del)
c.7483_7484del (p.Glu2495LysfsTer14)
c.748_749del (p.Glu250LysfsTer14)
n.1004_1005del
c.7663_7664del (p.Glu2555LysfsTer14)
c.7597_7598del (p.Glu2533LysfsTer14)
c.7660_7661del (p.Glu2554LysfsTer14)
c.7657_7658del (p.Glu2553LysfsTer14)
c.7603_7604del (p.Glu2535LysfsTer14)
c.7573_7574del (p.Glu2525LysfsTer14)
c.7528_7529del (p.Glu2510LysfsTer14)
c.7123_7124del (p.Glu2375LysfsTer14)
c.6481_6482del (p.Glu2161LysfsTer14)
c.3991_3992del (p.Glu1331LysfsTer14)

Number of alleles fetched