Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.71799544C>ACA377159317CDH23c.7277C>A (p.Ala2426Asp)
c.1210C>A (n.1210C>A)
c.874C>A (n.874C>A)
c.7292C>A (p.Ala2431Asp)
c.557C>A (p.Ala186Asp)
n.813C>A
c.7472C>A (p.Ala2491Asp)
c.7406C>A (p.Ala2469Asp)
c.7469C>A (p.Ala2490Asp)
c.7466C>A (p.Ala2489Asp)
c.7412C>A (p.Ala2471Asp)
c.7382C>A (p.Ala2461Asp)
c.7337C>A (p.Ala2446Asp)
c.6932C>A (p.Ala2311Asp)
c.6290C>A (p.Ala2097Asp)
c.3800C>A (p.Ala1267Asp)
 ClinVar dbSNP
10g.71799544C=CA1918878922CDH23c.7277C= (p.Ala2426=)
c.1210C= (n.1210C=)
c.874C= (n.874C=)
c.7292C= (p.Ala2431=)
c.557C= (p.Ala186=)
n.813C=
c.7472C= (p.Ala2491=)
c.7406C= (p.Ala2469=)
c.7469C= (p.Ala2490=)
c.7466C= (p.Ala2489=)
c.7412C= (p.Ala2471=)
c.7382C= (p.Ala2461=)
c.7337C= (p.Ala2446=)
c.6932C= (p.Ala2311=)
c.6290C= (p.Ala2097=)
c.3800C= (p.Ala1267=)
10g.71799544C>GCA377159320CDH23c.7277C>G (p.Ala2426Gly)
c.1210C>G (n.1210C>G)
c.874C>G (n.874C>G)
c.7292C>G (p.Ala2431Gly)
c.557C>G (p.Ala186Gly)
n.813C>G
c.7472C>G (p.Ala2491Gly)
c.7406C>G (p.Ala2469Gly)
c.7469C>G (p.Ala2490Gly)
c.7466C>G (p.Ala2489Gly)
c.7412C>G (p.Ala2471Gly)
c.7382C>G (p.Ala2461Gly)
c.7337C>G (p.Ala2446Gly)
c.6932C>G (p.Ala2311Gly)
c.6290C>G (p.Ala2097Gly)
c.3800C>G (p.Ala1267Gly)
10g.71799544C>TCA377159318CDH23c.7277C>T (p.Ala2426Val)
c.1210C>T (n.1210C>T)
c.874C>T (n.874C>T)
c.7292C>T (p.Ala2431Val)
c.557C>T (p.Ala186Val)
n.813C>T
c.7472C>T (p.Ala2491Val)
c.7406C>T (p.Ala2469Val)
c.7469C>T (p.Ala2490Val)
c.7466C>T (p.Ala2489Val)
c.7412C>T (p.Ala2471Val)
c.7382C>T (p.Ala2461Val)
c.7337C>T (p.Ala2446Val)
c.6932C>T (p.Ala2311Val)
c.6290C>T (p.Ala2097Val)
c.3800C>T (p.Ala1267Val)
 dbSNP gnomAD v4
10g.71799545C>ACA470282091CDH23c.7278C>A (p.Ala2426=)
c.1211C>A (n.1211C>A)
c.875C>A (n.875C>A)
c.7293C>A (p.Ala2431=)
c.558C>A (p.Ala186=)
n.814C>A
c.7473C>A (p.Ala2491=)
c.7407C>A (p.Ala2469=)
c.7470C>A (p.Ala2490=)
c.7467C>A (p.Ala2489=)
c.7413C>A (p.Ala2471=)
c.7383C>A (p.Ala2461=)
c.7338C>A (p.Ala2446=)
c.6933C>A (p.Ala2311=)
c.6291C>A (p.Ala2097=)
c.3801C>A (p.Ala1267=)
10g.71799545C>GCA470282092CDH23c.7278C>G (p.Ala2426=)
c.1211C>G (n.1211C>G)
c.875C>G (n.875C>G)
c.7293C>G (p.Ala2431=)
c.558C>G (p.Ala186=)
n.814C>G
c.7473C>G (p.Ala2491=)
c.7407C>G (p.Ala2469=)
c.7470C>G (p.Ala2490=)
c.7467C>G (p.Ala2489=)
c.7413C>G (p.Ala2471=)
c.7383C>G (p.Ala2461=)
c.7338C>G (p.Ala2446=)
c.6933C>G (p.Ala2311=)
c.6291C>G (p.Ala2097=)
c.3801C>G (p.Ala1267=)
10g.71799545C>TCA470282094CDH23c.7278C>T (p.Ala2426=)
c.1211C>T (n.1211C>T)
c.875C>T (n.875C>T)
c.7293C>T (p.Ala2431=)
c.558C>T (p.Ala186=)
n.814C>T
c.7473C>T (p.Ala2491=)
c.7407C>T (p.Ala2469=)
c.7470C>T (p.Ala2490=)
c.7467C>T (p.Ala2489=)
c.7413C>T (p.Ala2471=)
c.7383C>T (p.Ala2461=)
c.7338C>T (p.Ala2446=)
c.6933C>T (p.Ala2311=)
c.6291C>T (p.Ala2097=)
c.3801C>T (p.Ala1267=)
10g.71799546delCA2695212113CDH23c.7279del (p.Thr2427LeufsTer?)
c.1212del (n.1212del)
c.876del (n.876del)
c.7294del (p.Thr2432LeufsTer?)
c.559del (p.Thr187LeufsTer?)
n.815del
c.7474del (p.Thr2492LeufsTer?)
c.7408del (p.Thr2470LeufsTer?)
c.7471del (p.Thr2491LeufsTer?)
c.7468del (p.Thr2490LeufsTer?)
c.7414del (p.Thr2472LeufsTer?)
c.7384del (p.Thr2462LeufsTer?)
c.7339del (p.Thr2447LeufsTer?)
c.6934del (p.Thr2312LeufsTer?)
c.6292del (p.Thr2098LeufsTer?)
c.3802del (p.Thr1268LeufsTer?)
10g.71799546A>CCA377159323CDH23c.7279A>C (p.Thr2427Pro)
c.1212A>C (n.1212A>C)
c.876A>C (n.876A>C)
c.7294A>C (p.Thr2432Pro)
c.559A>C (p.Thr187Pro)
n.815A>C
c.7474A>C (p.Thr2492Pro)
c.7408A>C (p.Thr2470Pro)
c.7471A>C (p.Thr2491Pro)
c.7468A>C (p.Thr2490Pro)
c.7414A>C (p.Thr2472Pro)
c.7384A>C (p.Thr2462Pro)
c.7339A>C (p.Thr2447Pro)
c.6934A>C (p.Thr2312Pro)
c.6292A>C (p.Thr2098Pro)
c.3802A>C (p.Thr1268Pro)
10g.71799546A>GCA377159324CDH23c.7279A>G (p.Thr2427Ala)
c.1212A>G (n.1212A>G)
c.876A>G (n.876A>G)
c.7294A>G (p.Thr2432Ala)
c.559A>G (p.Thr187Ala)
n.815A>G
c.7474A>G (p.Thr2492Ala)
c.7408A>G (p.Thr2470Ala)
c.7471A>G (p.Thr2491Ala)
c.7468A>G (p.Thr2490Ala)
c.7414A>G (p.Thr2472Ala)
c.7384A>G (p.Thr2462Ala)
c.7339A>G (p.Thr2447Ala)
c.6934A>G (p.Thr2312Ala)
c.6292A>G (p.Thr2098Ala)
c.3802A>G (p.Thr1268Ala)
10g.71799546A>TCA377159326CDH23c.7279A>T (p.Thr2427Ser)
c.1212A>T (n.1212A>T)
c.876A>T (n.876A>T)
c.7294A>T (p.Thr2432Ser)
c.559A>T (p.Thr187Ser)
n.815A>T
c.7474A>T (p.Thr2492Ser)
c.7408A>T (p.Thr2470Ser)
c.7471A>T (p.Thr2491Ser)
c.7468A>T (p.Thr2490Ser)
c.7414A>T (p.Thr2472Ser)
c.7384A>T (p.Thr2462Ser)
c.7339A>T (p.Thr2447Ser)
c.6934A>T (p.Thr2312Ser)
c.6292A>T (p.Thr2098Ser)
c.3802A>T (p.Thr1268Ser)
10g.71799547C>ACA377159328CDH23c.7280C>A (p.Thr2427Asn)
c.1213C>A (n.1213C>A)
c.877C>A (n.877C>A)
c.7295C>A (p.Thr2432Asn)
c.560C>A (p.Thr187Asn)
n.816C>A
c.7475C>A (p.Thr2492Asn)
c.7409C>A (p.Thr2470Asn)
c.7472C>A (p.Thr2491Asn)
c.7469C>A (p.Thr2490Asn)
c.7415C>A (p.Thr2472Asn)
c.7385C>A (p.Thr2462Asn)
c.7340C>A (p.Thr2447Asn)
c.6935C>A (p.Thr2312Asn)
c.6293C>A (p.Thr2098Asn)
c.3803C>A (p.Thr1268Asn)
10g.71799547C>GCA377159330CDH23c.7280C>G (p.Thr2427Ser)
c.1213C>G (n.1213C>G)
c.877C>G (n.877C>G)
c.7295C>G (p.Thr2432Ser)
c.560C>G (p.Thr187Ser)
n.816C>G
c.7475C>G (p.Thr2492Ser)
c.7409C>G (p.Thr2470Ser)
c.7472C>G (p.Thr2491Ser)
c.7469C>G (p.Thr2490Ser)
c.7415C>G (p.Thr2472Ser)
c.7385C>G (p.Thr2462Ser)
c.7340C>G (p.Thr2447Ser)
c.6935C>G (p.Thr2312Ser)
c.6293C>G (p.Thr2098Ser)
c.3803C>G (p.Thr1268Ser)
 gnomAD v4
10g.71799547C>TCA377159331CDH23c.7280C>T (p.Thr2427Ile)
c.1213C>T (n.1213C>T)
c.877C>T (n.877C>T)
c.7295C>T (p.Thr2432Ile)
c.560C>T (p.Thr187Ile)
n.816C>T
c.7475C>T (p.Thr2492Ile)
c.7409C>T (p.Thr2470Ile)
c.7472C>T (p.Thr2491Ile)
c.7469C>T (p.Thr2490Ile)
c.7415C>T (p.Thr2472Ile)
c.7385C>T (p.Thr2462Ile)
c.7340C>T (p.Thr2447Ile)
c.6935C>T (p.Thr2312Ile)
c.6293C>T (p.Thr2098Ile)
c.3803C>T (p.Thr1268Ile)
10g.71799548T>ACA470282097CDH23c.7281T>A (p.Thr2427=)
c.1214T>A (n.1214T>A)
c.878T>A (n.878T>A)
c.7296T>A (p.Thr2432=)
c.561T>A (p.Thr187=)
n.817T>A
c.7476T>A (p.Thr2492=)
c.7410T>A (p.Thr2470=)
c.7473T>A (p.Thr2491=)
c.7470T>A (p.Thr2490=)
c.7416T>A (p.Thr2472=)
c.7386T>A (p.Thr2462=)
c.7341T>A (p.Thr2447=)
c.6936T>A (p.Thr2312=)
c.6294T>A (p.Thr2098=)
c.3804T>A (p.Thr1268=)
10g.71799548T>CCA470282098CDH23c.7281T>C (p.Thr2427=)
c.1214T>C (n.1214T>C)
c.878T>C (n.878T>C)
c.7296T>C (p.Thr2432=)
c.561T>C (p.Thr187=)
n.817T>C
c.7476T>C (p.Thr2492=)
c.7410T>C (p.Thr2470=)
c.7473T>C (p.Thr2491=)
c.7470T>C (p.Thr2490=)
c.7416T>C (p.Thr2472=)
c.7386T>C (p.Thr2462=)
c.7341T>C (p.Thr2447=)
c.6936T>C (p.Thr2312=)
c.6294T>C (p.Thr2098=)
c.3804T>C (p.Thr1268=)
10g.71799548T>GCA470282099CDH23c.7281T>G (p.Thr2427=)
c.1214T>G (n.1214T>G)
c.878T>G (n.878T>G)
c.7296T>G (p.Thr2432=)
c.561T>G (p.Thr187=)
n.817T>G
c.7476T>G (p.Thr2492=)
c.7410T>G (p.Thr2470=)
c.7473T>G (p.Thr2491=)
c.7470T>G (p.Thr2490=)
c.7416T>G (p.Thr2472=)
c.7386T>G (p.Thr2462=)
c.7341T>G (p.Thr2447=)
c.6936T>G (p.Thr2312=)
c.6294T>G (p.Thr2098=)
c.3804T>G (p.Thr1268=)
10g.71799549G>ACA377159332CDH23c.7282G>A (p.Asp2428Asn)
c.1215G>A (n.1215G>A)
c.879G>A (n.879G>A)
c.7297G>A (p.Asp2433Asn)
c.562G>A (p.Asp188Asn)
n.818G>A
c.7477G>A (p.Asp2493Asn)
c.7411G>A (p.Asp2471Asn)
c.7474G>A (p.Asp2492Asn)
c.7471G>A (p.Asp2491Asn)
c.7417G>A (p.Asp2473Asn)
c.7387G>A (p.Asp2463Asn)
c.7342G>A (p.Asp2448Asn)
c.6937G>A (p.Asp2313Asn)
c.6295G>A (p.Asp2099Asn)
c.3805G>A (p.Asp1269Asn)
10g.71799549G>CCA377159334CDH23c.7282G>C (p.Asp2428His)
c.1215G>C (n.1215G>C)
c.879G>C (n.879G>C)
c.7297G>C (p.Asp2433His)
c.562G>C (p.Asp188His)
n.818G>C
c.7477G>C (p.Asp2493His)
c.7411G>C (p.Asp2471His)
c.7474G>C (p.Asp2492His)
c.7471G>C (p.Asp2491His)
c.7417G>C (p.Asp2473His)
c.7387G>C (p.Asp2463His)
c.7342G>C (p.Asp2448His)
c.6937G>C (p.Asp2313His)
c.6295G>C (p.Asp2099His)
c.3805G>C (p.Asp1269His)
10g.71799549G>TCA377159335CDH23c.7282G>T (p.Asp2428Tyr)
c.1215G>T (n.1215G>T)
c.879G>T (n.879G>T)
c.7297G>T (p.Asp2433Tyr)
c.562G>T (p.Asp188Tyr)
n.818G>T
c.7477G>T (p.Asp2493Tyr)
c.7411G>T (p.Asp2471Tyr)
c.7474G>T (p.Asp2492Tyr)
c.7471G>T (p.Asp2491Tyr)
c.7417G>T (p.Asp2473Tyr)
c.7387G>T (p.Asp2463Tyr)
c.7342G>T (p.Asp2448Tyr)
c.6937G>T (p.Asp2313Tyr)
c.6295G>T (p.Asp2099Tyr)
c.3805G>T (p.Asp1269Tyr)
10g.71799550A>CCA377159336CDH23c.7283A>C (p.Asp2428Ala)
c.1216A>C (n.1216A>C)
c.880A>C (n.880A>C)
c.7298A>C (p.Asp2433Ala)
c.563A>C (p.Asp188Ala)
n.819A>C
c.7478A>C (p.Asp2493Ala)
c.7412A>C (p.Asp2471Ala)
c.7475A>C (p.Asp2492Ala)
c.7472A>C (p.Asp2491Ala)
c.7418A>C (p.Asp2473Ala)
c.7388A>C (p.Asp2463Ala)
c.7343A>C (p.Asp2448Ala)
c.6938A>C (p.Asp2313Ala)
c.6296A>C (p.Asp2099Ala)
c.3806A>C (p.Asp1269Ala)
10g.71799550A>GCA377159337CDH23c.7283A>G (p.Asp2428Gly)
c.1216A>G (n.1216A>G)
c.880A>G (n.880A>G)
c.7298A>G (p.Asp2433Gly)
c.563A>G (p.Asp188Gly)
n.819A>G
c.7478A>G (p.Asp2493Gly)
c.7412A>G (p.Asp2471Gly)
c.7475A>G (p.Asp2492Gly)
c.7472A>G (p.Asp2491Gly)
c.7418A>G (p.Asp2473Gly)
c.7388A>G (p.Asp2463Gly)
c.7343A>G (p.Asp2448Gly)
c.6938A>G (p.Asp2313Gly)
c.6296A>G (p.Asp2099Gly)
c.3806A>G (p.Asp1269Gly)
10g.71799550A>TCA377159339CDH23c.7283A>T (p.Asp2428Val)
c.1216A>T (n.1216A>T)
c.880A>T (n.880A>T)
c.7298A>T (p.Asp2433Val)
c.563A>T (p.Asp188Val)
n.819A>T
c.7478A>T (p.Asp2493Val)
c.7412A>T (p.Asp2471Val)
c.7475A>T (p.Asp2492Val)
c.7472A>T (p.Asp2491Val)
c.7418A>T (p.Asp2473Val)
c.7388A>T (p.Asp2463Val)
c.7343A>T (p.Asp2448Val)
c.6938A>T (p.Asp2313Val)
c.6296A>T (p.Asp2099Val)
c.3806A>T (p.Asp1269Val)
10g.71799551T>ACA377159350CDH23c.7284T>A (p.Asp2428Glu)
c.1217T>A (n.1217T>A)
c.881T>A (n.881T>A)
c.7299T>A (p.Asp2433Glu)
c.564T>A (p.Asp188Glu)
n.820T>A
c.7479T>A (p.Asp2493Glu)
c.7413T>A (p.Asp2471Glu)
c.7476T>A (p.Asp2492Glu)
c.7473T>A (p.Asp2491Glu)
c.7419T>A (p.Asp2473Glu)
c.7389T>A (p.Asp2463Glu)
c.7344T>A (p.Asp2448Glu)
c.6939T>A (p.Asp2313Glu)
c.6297T>A (p.Asp2099Glu)
c.3807T>A (p.Asp1269Glu)
 gnomAD v4
10g.71799551T>CCA5546299CDH23c.7284T>C (p.Asp2428=)
c.1217T>C (n.1217T>C)
c.881T>C (n.881T>C)
c.7299T>C (p.Asp2433=)
c.564T>C (p.Asp188=)
n.820T>C
c.7479T>C (p.Asp2493=)
c.7413T>C (p.Asp2471=)
c.7476T>C (p.Asp2492=)
c.7473T>C (p.Asp2491=)
c.7419T>C (p.Asp2473=)
c.7389T>C (p.Asp2463=)
c.7344T>C (p.Asp2448=)
c.6939T>C (p.Asp2313=)
c.6297T>C (p.Asp2099=)
c.3807T>C (p.Asp1269=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71799551T>GCA377159348CDH23c.7284T>G (p.Asp2428Glu)
c.1217T>G (n.1217T>G)
c.881T>G (n.881T>G)
c.7299T>G (p.Asp2433Glu)
c.564T>G (p.Asp188Glu)
n.820T>G
c.7479T>G (p.Asp2493Glu)
c.7413T>G (p.Asp2471Glu)
c.7476T>G (p.Asp2492Glu)
c.7473T>G (p.Asp2491Glu)
c.7419T>G (p.Asp2473Glu)
c.7389T>G (p.Asp2463Glu)
c.7344T>G (p.Asp2448Glu)
c.6939T>G (p.Asp2313Glu)
c.6297T>G (p.Asp2099Glu)
c.3807T>G (p.Asp1269Glu)
10g.71799551T=CA1918878923CDH23c.7284T= (p.Asp2428=)
c.1217T= (n.1217T=)
c.881T= (n.881T=)
c.7299T= (p.Asp2433=)
c.564T= (p.Asp188=)
n.820T=
c.7479T= (p.Asp2493=)
c.7413T= (p.Asp2471=)
c.7476T= (p.Asp2492=)
c.7473T= (p.Asp2491=)
c.7419T= (p.Asp2473=)
c.7389T= (p.Asp2463=)
c.7344T= (p.Asp2448=)
c.6939T= (p.Asp2313=)
c.6297T= (p.Asp2099=)
c.3807T= (p.Asp1269=)
10g.71799552G>ACA377159355CDH23c.7285G>A (p.Ala2429Thr)
c.1218G>A (n.1218G>A)
c.882G>A (n.882G>A)
c.7300G>A (p.Ala2434Thr)
c.565G>A (p.Ala189Thr)
n.821G>A
c.7480G>A (p.Ala2494Thr)
c.7414G>A (p.Ala2472Thr)
c.7477G>A (p.Ala2493Thr)
c.7474G>A (p.Ala2492Thr)
c.7420G>A (p.Ala2474Thr)
c.7390G>A (p.Ala2464Thr)
c.7345G>A (p.Ala2449Thr)
c.6940G>A (p.Ala2314Thr)
c.6298G>A (p.Ala2100Thr)
c.3808G>A (p.Ala1270Thr)
10g.71799552G>CCA377159359CDH23c.7285G>C (p.Ala2429Pro)
c.1218G>C (n.1218G>C)
c.882G>C (n.882G>C)
c.7300G>C (p.Ala2434Pro)
c.565G>C (p.Ala189Pro)
n.821G>C
c.7480G>C (p.Ala2494Pro)
c.7414G>C (p.Ala2472Pro)
c.7477G>C (p.Ala2493Pro)
c.7474G>C (p.Ala2492Pro)
c.7420G>C (p.Ala2474Pro)
c.7390G>C (p.Ala2464Pro)
c.7345G>C (p.Ala2449Pro)
c.6940G>C (p.Ala2314Pro)
c.6298G>C (p.Ala2100Pro)
c.3808G>C (p.Ala1270Pro)
10g.71799552G>TCA377159360CDH23c.7285G>T (p.Ala2429Ser)
c.1218G>T (n.1218G>T)
c.882G>T (n.882G>T)
c.7300G>T (p.Ala2434Ser)
c.565G>T (p.Ala189Ser)
n.821G>T
c.7480G>T (p.Ala2494Ser)
c.7414G>T (p.Ala2472Ser)
c.7477G>T (p.Ala2493Ser)
c.7474G>T (p.Ala2492Ser)
c.7420G>T (p.Ala2474Ser)
c.7390G>T (p.Ala2464Ser)
c.7345G>T (p.Ala2449Ser)
c.6940G>T (p.Ala2314Ser)
c.6298G>T (p.Ala2100Ser)
c.3808G>T (p.Ala1270Ser)
10g.71799553C>ACA377159363CDH23c.7286C>A (p.Ala2429Asp)
c.1219C>A (n.1219C>A)
c.883C>A (n.883C>A)
c.7301C>A (p.Ala2434Asp)
c.566C>A (p.Ala189Asp)
n.822C>A
c.7481C>A (p.Ala2494Asp)
c.7415C>A (p.Ala2472Asp)
c.7478C>A (p.Ala2493Asp)
c.7475C>A (p.Ala2492Asp)
c.7421C>A (p.Ala2474Asp)
c.7391C>A (p.Ala2464Asp)
c.7346C>A (p.Ala2449Asp)
c.6941C>A (p.Ala2314Asp)
c.6299C>A (p.Ala2100Asp)
c.3809C>A (p.Ala1270Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.71799553C=CA1918878924CDH23c.7286C= (p.Ala2429=)
c.1219C= (n.1219C=)
c.883C= (n.883C=)
c.7301C= (p.Ala2434=)
c.566C= (p.Ala189=)
n.822C=
c.7481C= (p.Ala2494=)
c.7415C= (p.Ala2472=)
c.7478C= (p.Ala2493=)
c.7475C= (p.Ala2492=)
c.7421C= (p.Ala2474=)
c.7391C= (p.Ala2464=)
c.7346C= (p.Ala2449=)
c.6941C= (p.Ala2314=)
c.6299C= (p.Ala2100=)
c.3809C= (p.Ala1270=)
10g.71799553C>GCA377159364CDH23c.7286C>G (p.Ala2429Gly)
c.1219C>G (n.1219C>G)
c.883C>G (n.883C>G)
c.7301C>G (p.Ala2434Gly)
c.566C>G (p.Ala189Gly)
n.822C>G
c.7481C>G (p.Ala2494Gly)
c.7415C>G (p.Ala2472Gly)
c.7478C>G (p.Ala2493Gly)
c.7475C>G (p.Ala2492Gly)
c.7421C>G (p.Ala2474Gly)
c.7391C>G (p.Ala2464Gly)
c.7346C>G (p.Ala2449Gly)
c.6941C>G (p.Ala2314Gly)
c.6299C>G (p.Ala2100Gly)
c.3809C>G (p.Ala1270Gly)
10g.71799553C>TCA377159367CDH23c.7286C>T (p.Ala2429Val)
c.1219C>T (n.1219C>T)
c.883C>T (n.883C>T)
c.7301C>T (p.Ala2434Val)
c.566C>T (p.Ala189Val)
n.822C>T
c.7481C>T (p.Ala2494Val)
c.7415C>T (p.Ala2472Val)
c.7478C>T (p.Ala2493Val)
c.7475C>T (p.Ala2492Val)
c.7421C>T (p.Ala2474Val)
c.7391C>T (p.Ala2464Val)
c.7346C>T (p.Ala2449Val)
c.6941C>T (p.Ala2314Val)
c.6299C>T (p.Ala2100Val)
c.3809C>T (p.Ala1270Val)
10g.71799554T>ACA470282101CDH23c.7287T>A (p.Ala2429=)
c.1220T>A (n.1220T>A)
c.884T>A (n.884T>A)
c.7302T>A (p.Ala2434=)
c.567T>A (p.Ala189=)
n.823T>A
c.7482T>A (p.Ala2494=)
c.7416T>A (p.Ala2472=)
c.7479T>A (p.Ala2493=)
c.7476T>A (p.Ala2492=)
c.7422T>A (p.Ala2474=)
c.7392T>A (p.Ala2464=)
c.7347T>A (p.Ala2449=)
c.6942T>A (p.Ala2314=)
c.6300T>A (p.Ala2100=)
c.3810T>A (p.Ala1270=)
10g.71799554T>CCA470282102CDH23c.7287T>C (p.Ala2429=)
c.1220T>C (n.1220T>C)
c.884T>C (n.884T>C)
c.7302T>C (p.Ala2434=)
c.567T>C (p.Ala189=)
n.823T>C
c.7482T>C (p.Ala2494=)
c.7416T>C (p.Ala2472=)
c.7479T>C (p.Ala2493=)
c.7476T>C (p.Ala2492=)
c.7422T>C (p.Ala2474=)
c.7392T>C (p.Ala2464=)
c.7347T>C (p.Ala2449=)
c.6942T>C (p.Ala2314=)
c.6300T>C (p.Ala2100=)
c.3810T>C (p.Ala1270=)
10g.71799554T>GCA470282103CDH23c.7287T>G (p.Ala2429=)
c.1220T>G (n.1220T>G)
c.884T>G (n.884T>G)
c.7302T>G (p.Ala2434=)
c.567T>G (p.Ala189=)
n.823T>G
c.7482T>G (p.Ala2494=)
c.7416T>G (p.Ala2472=)
c.7479T>G (p.Ala2493=)
c.7476T>G (p.Ala2492=)
c.7422T>G (p.Ala2474=)
c.7392T>G (p.Ala2464=)
c.7347T>G (p.Ala2449=)
c.6942T>G (p.Ala2314=)
c.6300T>G (p.Ala2100=)
c.3810T>G (p.Ala1270=)
 dbSNP gnomAD v2 gnomAD v4
10g.71799554T=CA1918878925CDH23c.7287T= (p.Ala2429=)
c.1220T= (n.1220T=)
c.884T= (n.884T=)
c.7302T= (p.Ala2434=)
c.567T= (p.Ala189=)
n.823T=
c.7482T= (p.Ala2494=)
c.7416T= (p.Ala2472=)
c.7479T= (p.Ala2493=)
c.7476T= (p.Ala2492=)
c.7422T= (p.Ala2474=)
c.7392T= (p.Ala2464=)
c.7347T= (p.Ala2449=)
c.6942T= (p.Ala2314=)
c.6300T= (p.Ala2100=)
c.3810T= (p.Ala1270=)
10g.71799555G>ACA377159369CDH23c.7288G>A (p.Asp2430Asn)
c.1221G>A (n.1221G>A)
c.885G>A (n.885G>A)
c.7303G>A (p.Asp2435Asn)
c.568G>A (p.Asp190Asn)
n.824G>A
c.7483G>A (p.Asp2495Asn)
c.7417G>A (p.Asp2473Asn)
c.7480G>A (p.Asp2494Asn)
c.7477G>A (p.Asp2493Asn)
c.7423G>A (p.Asp2475Asn)
c.7393G>A (p.Asp2465Asn)
c.7348G>A (p.Asp2450Asn)
c.6943G>A (p.Asp2315Asn)
c.6301G>A (p.Asp2101Asn)
c.3811G>A (p.Asp1271Asn)
 ClinVar dbSNP COSMIC
10g.71799555G>CCA377159373CDH23c.7288G>C (p.Asp2430His)
c.1221G>C (n.1221G>C)
c.885G>C (n.885G>C)
c.7303G>C (p.Asp2435His)
c.568G>C (p.Asp190His)
n.824G>C
c.7483G>C (p.Asp2495His)
c.7417G>C (p.Asp2473His)
c.7480G>C (p.Asp2494His)
c.7477G>C (p.Asp2493His)
c.7423G>C (p.Asp2475His)
c.7393G>C (p.Asp2465His)
c.7348G>C (p.Asp2450His)
c.6943G>C (p.Asp2315His)
c.6301G>C (p.Asp2101His)
c.3811G>C (p.Asp1271His)
10g.71799555G>TCA377159371CDH23c.7288G>T (p.Asp2430Tyr)
c.1221G>T (n.1221G>T)
c.885G>T (n.885G>T)
c.7303G>T (p.Asp2435Tyr)
c.568G>T (p.Asp190Tyr)
n.824G>T
c.7483G>T (p.Asp2495Tyr)
c.7417G>T (p.Asp2473Tyr)
c.7480G>T (p.Asp2494Tyr)
c.7477G>T (p.Asp2493Tyr)
c.7423G>T (p.Asp2475Tyr)
c.7393G>T (p.Asp2465Tyr)
c.7348G>T (p.Asp2450Tyr)
c.6943G>T (p.Asp2315Tyr)
c.6301G>T (p.Asp2101Tyr)
c.3811G>T (p.Asp1271Tyr)
10g.71799556A=CA1918878926CDH23c.7289A= (p.Asp2430=)
c.1222A= (n.1222A=)
c.886A= (n.886A=)
c.7304A= (p.Asp2435=)
c.569A= (p.Asp190=)
n.825A=
c.7484A= (p.Asp2495=)
c.7418A= (p.Asp2473=)
c.7481A= (p.Asp2494=)
c.7478A= (p.Asp2493=)
c.7424A= (p.Asp2475=)
c.7394A= (p.Asp2465=)
c.7349A= (p.Asp2450=)
c.6944A= (p.Asp2315=)
c.6302A= (p.Asp2101=)
c.3812A= (p.Asp1271=)
10g.71799556A>CCA5546300CDH23c.7289A>C (p.Asp2430Ala)
c.1222A>C (n.1222A>C)
c.886A>C (n.886A>C)
c.7304A>C (p.Asp2435Ala)
c.569A>C (p.Asp190Ala)
n.825A>C
c.7484A>C (p.Asp2495Ala)
c.7418A>C (p.Asp2473Ala)
c.7481A>C (p.Asp2494Ala)
c.7478A>C (p.Asp2493Ala)
c.7424A>C (p.Asp2475Ala)
c.7394A>C (p.Asp2465Ala)
c.7349A>C (p.Asp2450Ala)
c.6944A>C (p.Asp2315Ala)
c.6302A>C (p.Asp2101Ala)
c.3812A>C (p.Asp1271Ala)
 dbSNP ExAC gnomAD v2
10g.71799556A>GCA377159375CDH23c.7289A>G (p.Asp2430Gly)
c.1222A>G (n.1222A>G)
c.886A>G (n.886A>G)
c.7304A>G (p.Asp2435Gly)
c.569A>G (p.Asp190Gly)
n.825A>G
c.7484A>G (p.Asp2495Gly)
c.7418A>G (p.Asp2473Gly)
c.7481A>G (p.Asp2494Gly)
c.7478A>G (p.Asp2493Gly)
c.7424A>G (p.Asp2475Gly)
c.7394A>G (p.Asp2465Gly)
c.7349A>G (p.Asp2450Gly)
c.6944A>G (p.Asp2315Gly)
c.6302A>G (p.Asp2101Gly)
c.3812A>G (p.Asp1271Gly)
10g.71799556A>TCA377159376CDH23c.7289A>T (p.Asp2430Val)
c.1222A>T (n.1222A>T)
c.886A>T (n.886A>T)
c.7304A>T (p.Asp2435Val)
c.569A>T (p.Asp190Val)
n.825A>T
c.7484A>T (p.Asp2495Val)
c.7418A>T (p.Asp2473Val)
c.7481A>T (p.Asp2494Val)
c.7478A>T (p.Asp2493Val)
c.7424A>T (p.Asp2475Val)
c.7394A>T (p.Asp2465Val)
c.7349A>T (p.Asp2450Val)
c.6944A>T (p.Asp2315Val)
c.6302A>T (p.Asp2101Val)
c.3812A>T (p.Asp1271Val)
10g.71799557C>ACA377159377CDH23c.7290C>A (p.Asp2430Glu)
c.1223C>A (n.1223C>A)
c.887C>A (n.887C>A)
c.7305C>A (p.Asp2435Glu)
c.570C>A (p.Asp190Glu)
n.826C>A
c.7485C>A (p.Asp2495Glu)
c.7419C>A (p.Asp2473Glu)
c.7482C>A (p.Asp2494Glu)
c.7479C>A (p.Asp2493Glu)
c.7425C>A (p.Asp2475Glu)
c.7395C>A (p.Asp2465Glu)
c.7350C>A (p.Asp2450Glu)
c.6945C>A (p.Asp2315Glu)
c.6303C>A (p.Asp2101Glu)
c.3813C>A (p.Asp1271Glu)
10g.71799557C>GCA377159378CDH23c.7290C>G (p.Asp2430Glu)
c.1223C>G (n.1223C>G)
c.887C>G (n.887C>G)
c.7305C>G (p.Asp2435Glu)
c.570C>G (p.Asp190Glu)
n.826C>G
c.7485C>G (p.Asp2495Glu)
c.7419C>G (p.Asp2473Glu)
c.7482C>G (p.Asp2494Glu)
c.7479C>G (p.Asp2493Glu)
c.7425C>G (p.Asp2475Glu)
c.7395C>G (p.Asp2465Glu)
c.7350C>G (p.Asp2450Glu)
c.6945C>G (p.Asp2315Glu)
c.6303C>G (p.Asp2101Glu)
c.3813C>G (p.Asp1271Glu)
10g.71799557C>TCA470282107CDH23c.7290C>T (p.Asp2430=)
c.1223C>T (n.1223C>T)
c.887C>T (n.887C>T)
c.7305C>T (p.Asp2435=)
c.570C>T (p.Asp190=)
n.826C>T
c.7485C>T (p.Asp2495=)
c.7419C>T (p.Asp2473=)
c.7482C>T (p.Asp2494=)
c.7479C>T (p.Asp2493=)
c.7425C>T (p.Asp2475=)
c.7395C>T (p.Asp2465=)
c.7350C>T (p.Asp2450=)
c.6945C>T (p.Asp2315=)
c.6303C>T (p.Asp2101=)
c.3813C>T (p.Asp1271=)
10g.71799558T>ACA377159387CDH23c.7291T>A (p.Ser2431Thr)
c.1224T>A (n.1224T>A)
c.888T>A (n.888T>A)
c.7306T>A (p.Ser2436Thr)
c.571T>A (p.Ser191Thr)
n.827T>A
c.7486T>A (p.Ser2496Thr)
c.7420T>A (p.Ser2474Thr)
c.7483T>A (p.Ser2495Thr)
c.7480T>A (p.Ser2494Thr)
c.7426T>A (p.Ser2476Thr)
c.7396T>A (p.Ser2466Thr)
c.7351T>A (p.Ser2451Thr)
c.6946T>A (p.Ser2316Thr)
c.6304T>A (p.Ser2102Thr)
c.3814T>A (p.Ser1272Thr)
10g.71799558T>CCA377159388CDH23c.7291T>C (p.Ser2431Pro)
c.1224T>C (n.1224T>C)
c.888T>C (n.888T>C)
c.7306T>C (p.Ser2436Pro)
c.571T>C (p.Ser191Pro)
n.827T>C
c.7486T>C (p.Ser2496Pro)
c.7420T>C (p.Ser2474Pro)
c.7483T>C (p.Ser2495Pro)
c.7480T>C (p.Ser2494Pro)
c.7426T>C (p.Ser2476Pro)
c.7396T>C (p.Ser2466Pro)
c.7351T>C (p.Ser2451Pro)
c.6946T>C (p.Ser2316Pro)
c.6304T>C (p.Ser2102Pro)
c.3814T>C (p.Ser1272Pro)

Number of alleles fetched