Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.71798493T>A | CA470062075 | CDH23 | c.6969T>A (p.Pro2323=) c.902T>A (n.902T>A) c.566T>A (n.566T>A) c.6984T>A (p.Pro2328=) c.249T>A (p.Pro83=) n.505T>A c.7164T>A (p.Pro2388=) c.7098T>A (p.Pro2366=) c.7161T>A (p.Pro2387=) c.7158T>A (p.Pro2386=) c.7104T>A (p.Pro2368=) c.7074T>A (p.Pro2358=) c.7029T>A (p.Pro2343=) c.6624T>A (p.Pro2208=) c.5982T>A (p.Pro1994=) c.3492T>A (p.Pro1164=) | |
10 | g.71798493T>C | CA470062076 | CDH23 | c.6969T>C (p.Pro2323=) c.902T>C (n.902T>C) c.566T>C (n.566T>C) c.6984T>C (p.Pro2328=) c.249T>C (p.Pro83=) n.505T>C c.7164T>C (p.Pro2388=) c.7098T>C (p.Pro2366=) c.7161T>C (p.Pro2387=) c.7158T>C (p.Pro2386=) c.7104T>C (p.Pro2368=) c.7074T>C (p.Pro2358=) c.7029T>C (p.Pro2343=) c.6624T>C (p.Pro2208=) c.5982T>C (p.Pro1994=) c.3492T>C (p.Pro1164=) | dbSNP |
10 | g.71798493T>G | CA470062077 | CDH23 | c.6969T>G (p.Pro2323=) c.902T>G (n.902T>G) c.566T>G (n.566T>G) c.6984T>G (p.Pro2328=) c.249T>G (p.Pro83=) n.505T>G c.7164T>G (p.Pro2388=) c.7098T>G (p.Pro2366=) c.7161T>G (p.Pro2387=) c.7158T>G (p.Pro2386=) c.7104T>G (p.Pro2368=) c.7074T>G (p.Pro2358=) c.7029T>G (p.Pro2343=) c.6624T>G (p.Pro2208=) c.5982T>G (p.Pro1994=) c.3492T>G (p.Pro1164=) | |
10 | g.71798493T= | CA1918878471 | CDH23 | c.6969T= (p.Pro2323=) c.902T= (n.902T=) c.566T= (n.566T=) c.6984T= (p.Pro2328=) c.249T= (p.Pro83=) n.505T= c.7164T= (p.Pro2388=) c.7098T= (p.Pro2366=) c.7161T= (p.Pro2387=) c.7158T= (p.Pro2386=) c.7104T= (p.Pro2368=) c.7074T= (p.Pro2358=) c.7029T= (p.Pro2343=) c.6624T= (p.Pro2208=) c.5982T= (p.Pro1994=) c.3492T= (p.Pro1164=) | |
10 | g.71798494G>A | CA377158092 | CDH23 | c.6970G>A (p.Asp2324Asn) c.903G>A (n.903G>A) c.567G>A (n.567G>A) c.6985G>A (p.Asp2329Asn) c.250G>A (p.Asp84Asn) n.506G>A c.7165G>A (p.Asp2389Asn) c.7099G>A (p.Asp2367Asn) c.7162G>A (p.Asp2388Asn) c.7159G>A (p.Asp2387Asn) c.7105G>A (p.Asp2369Asn) c.7075G>A (p.Asp2359Asn) c.7030G>A (p.Asp2344Asn) c.6625G>A (p.Asp2209Asn) c.5983G>A (p.Asp1995Asn) c.3493G>A (p.Asp1165Asn) | |
10 | g.71798494G>C | CA377158093 | CDH23 | c.6970G>C (p.Asp2324His) c.903G>C (n.903G>C) c.567G>C (n.567G>C) c.6985G>C (p.Asp2329His) c.250G>C (p.Asp84His) n.506G>C c.7165G>C (p.Asp2389His) c.7099G>C (p.Asp2367His) c.7162G>C (p.Asp2388His) c.7159G>C (p.Asp2387His) c.7105G>C (p.Asp2369His) c.7075G>C (p.Asp2359His) c.7030G>C (p.Asp2344His) c.6625G>C (p.Asp2209His) c.5983G>C (p.Asp1995His) c.3493G>C (p.Asp1165His) | |
10 | g.71798494G>T | CA377158094 | CDH23 | c.6970G>T (p.Asp2324Tyr) c.903G>T (n.903G>T) c.567G>T (n.567G>T) c.6985G>T (p.Asp2329Tyr) c.250G>T (p.Asp84Tyr) n.506G>T c.7165G>T (p.Asp2389Tyr) c.7099G>T (p.Asp2367Tyr) c.7162G>T (p.Asp2388Tyr) c.7159G>T (p.Asp2387Tyr) c.7105G>T (p.Asp2369Tyr) c.7075G>T (p.Asp2359Tyr) c.7030G>T (p.Asp2344Tyr) c.6625G>T (p.Asp2209Tyr) c.5983G>T (p.Asp1995Tyr) c.3493G>T (p.Asp1165Tyr) | |
10 | g.71798495A>C | CA377158099 | CDH23 | c.6971A>C (p.Asp2324Ala) c.904A>C (n.904A>C) c.568A>C (n.568A>C) c.6986A>C (p.Asp2329Ala) c.251A>C (p.Asp84Ala) n.507A>C c.7166A>C (p.Asp2389Ala) c.7100A>C (p.Asp2367Ala) c.7163A>C (p.Asp2388Ala) c.7160A>C (p.Asp2387Ala) c.7106A>C (p.Asp2369Ala) c.7076A>C (p.Asp2359Ala) c.7031A>C (p.Asp2344Ala) c.6626A>C (p.Asp2209Ala) c.5984A>C (p.Asp1995Ala) c.3494A>C (p.Asp1165Ala) | |
10 | g.71798495A>G | CA377158098 | CDH23 | c.6971A>G (p.Asp2324Gly) c.904A>G (n.904A>G) c.568A>G (n.568A>G) c.6986A>G (p.Asp2329Gly) c.251A>G (p.Asp84Gly) n.507A>G c.7166A>G (p.Asp2389Gly) c.7100A>G (p.Asp2367Gly) c.7163A>G (p.Asp2388Gly) c.7160A>G (p.Asp2387Gly) c.7106A>G (p.Asp2369Gly) c.7076A>G (p.Asp2359Gly) c.7031A>G (p.Asp2344Gly) c.6626A>G (p.Asp2209Gly) c.5984A>G (p.Asp1995Gly) c.3494A>G (p.Asp1165Gly) | gnomAD v4 |
10 | g.71798495A>T | CA377158096 | CDH23 | c.6971A>T (p.Asp2324Val) c.904A>T (n.904A>T) c.568A>T (n.568A>T) c.6986A>T (p.Asp2329Val) c.251A>T (p.Asp84Val) n.507A>T c.7166A>T (p.Asp2389Val) c.7100A>T (p.Asp2367Val) c.7163A>T (p.Asp2388Val) c.7160A>T (p.Asp2387Val) c.7106A>T (p.Asp2369Val) c.7076A>T (p.Asp2359Val) c.7031A>T (p.Asp2344Val) c.6626A>T (p.Asp2209Val) c.5984A>T (p.Asp1995Val) c.3494A>T (p.Asp1165Val) | dbSNP |
10 | g.71798496C>A | CA377158100 | CDH23 | c.6972C>A (p.Asp2324Glu) c.905C>A (n.905C>A) c.569C>A (n.569C>A) c.6987C>A (p.Asp2329Glu) c.252C>A (p.Asp84Glu) n.508C>A c.7167C>A (p.Asp2389Glu) c.7101C>A (p.Asp2367Glu) c.7164C>A (p.Asp2388Glu) c.7161C>A (p.Asp2387Glu) c.7107C>A (p.Asp2369Glu) c.7077C>A (p.Asp2359Glu) c.7032C>A (p.Asp2344Glu) c.6627C>A (p.Asp2209Glu) c.5985C>A (p.Asp1995Glu) c.3495C>A (p.Asp1165Glu) | |
10 | g.71798496C>G | CA377158102 | CDH23 | c.6972C>G (p.Asp2324Glu) c.905C>G (n.905C>G) c.569C>G (n.569C>G) c.6987C>G (p.Asp2329Glu) c.252C>G (p.Asp84Glu) n.508C>G c.7167C>G (p.Asp2389Glu) c.7101C>G (p.Asp2367Glu) c.7164C>G (p.Asp2388Glu) c.7161C>G (p.Asp2387Glu) c.7107C>G (p.Asp2369Glu) c.7077C>G (p.Asp2359Glu) c.7032C>G (p.Asp2344Glu) c.6627C>G (p.Asp2209Glu) c.5985C>G (p.Asp1995Glu) c.3495C>G (p.Asp1165Glu) | |
10 | g.71798496C>T | CA470062080 | CDH23 | c.6972C>T (p.Asp2324=) c.905C>T (n.905C>T) c.569C>T (n.569C>T) c.6987C>T (p.Asp2329=) c.252C>T (p.Asp84=) n.508C>T c.7167C>T (p.Asp2389=) c.7101C>T (p.Asp2367=) c.7164C>T (p.Asp2388=) c.7161C>T (p.Asp2387=) c.7107C>T (p.Asp2369=) c.7077C>T (p.Asp2359=) c.7032C>T (p.Asp2344=) c.6627C>T (p.Asp2209=) c.5985C>T (p.Asp1995=) c.3495C>T (p.Asp1165=) | gnomAD v4 |
10 | g.71798497A>C | CA377158103 | CDH23 | c.6973A>C (p.Lys2325Gln) c.906A>C (n.906A>C) c.570A>C (n.570A>C) c.6988A>C (p.Lys2330Gln) c.253A>C (p.Lys85Gln) n.509A>C c.7168A>C (p.Lys2390Gln) c.7102A>C (p.Lys2368Gln) c.7165A>C (p.Lys2389Gln) c.7162A>C (p.Lys2388Gln) c.7108A>C (p.Lys2370Gln) c.7078A>C (p.Lys2360Gln) c.7033A>C (p.Lys2345Gln) c.6628A>C (p.Lys2210Gln) c.5986A>C (p.Lys1996Gln) c.3496A>C (p.Lys1166Gln) | |
10 | g.71798497A>G | CA377158105 | CDH23 | c.6973A>G (p.Lys2325Glu) c.906A>G (n.906A>G) c.570A>G (n.570A>G) c.6988A>G (p.Lys2330Glu) c.253A>G (p.Lys85Glu) n.509A>G c.7168A>G (p.Lys2390Glu) c.7102A>G (p.Lys2368Glu) c.7165A>G (p.Lys2389Glu) c.7162A>G (p.Lys2388Glu) c.7108A>G (p.Lys2370Glu) c.7078A>G (p.Lys2360Glu) c.7033A>G (p.Lys2345Glu) c.6628A>G (p.Lys2210Glu) c.5986A>G (p.Lys1996Glu) c.3496A>G (p.Lys1166Glu) | |
10 | g.71798497A>T | CA377158107 | CDH23 | c.6973A>T (p.Lys2325Ter) c.906A>T (n.906A>T) c.570A>T (n.570A>T) c.6988A>T (p.Lys2330Ter) c.253A>T (p.Lys85Ter) n.509A>T c.7168A>T (p.Lys2390Ter) c.7102A>T (p.Lys2368Ter) c.7165A>T (p.Lys2389Ter) c.7162A>T (p.Lys2388Ter) c.7108A>T (p.Lys2370Ter) c.7078A>T (p.Lys2360Ter) c.7033A>T (p.Lys2345Ter) c.6628A>T (p.Lys2210Ter) c.5986A>T (p.Lys1996Ter) c.3496A>T (p.Lys1166Ter) | |
10 | g.71798498dup | CA2580081848 | CDH23 | c.6974dup (p.Leu2327ProfsTer2) c.907dup (n.907dup) c.571dup (n.571dup) c.6989dup (p.Leu2332ProfsTer2) c.254dup (p.Leu87ProfsTer2) n.510dup c.7169dup (p.Leu2392ProfsTer2) c.7103dup (p.Leu2370ProfsTer2) c.7166dup (p.Leu2391ProfsTer2) c.7163dup (p.Leu2390ProfsTer2) c.7109dup (p.Leu2372ProfsTer2) c.7079dup (p.Leu2362ProfsTer2) c.7034dup (p.Leu2347ProfsTer2) c.6629dup (p.Leu2212ProfsTer2) c.5987dup (p.Leu1998ProfsTer2) c.3497dup (p.Leu1168ProfsTer2) | ClinVar |
10 | g.71798498A>C | CA377158108 | CDH23 | c.6974A>C (p.Lys2325Thr) c.907A>C (n.907A>C) c.571A>C (n.571A>C) c.6989A>C (p.Lys2330Thr) c.254A>C (p.Lys85Thr) n.510A>C c.7169A>C (p.Lys2390Thr) c.7103A>C (p.Lys2368Thr) c.7166A>C (p.Lys2389Thr) c.7163A>C (p.Lys2388Thr) c.7109A>C (p.Lys2370Thr) c.7079A>C (p.Lys2360Thr) c.7034A>C (p.Lys2345Thr) c.6629A>C (p.Lys2210Thr) c.5987A>C (p.Lys1996Thr) c.3497A>C (p.Lys1166Thr) | |
10 | g.71798498A>G | CA377158109 | CDH23 | c.6974A>G (p.Lys2325Arg) c.907A>G (n.907A>G) c.571A>G (n.571A>G) c.6989A>G (p.Lys2330Arg) c.254A>G (p.Lys85Arg) n.510A>G c.7169A>G (p.Lys2390Arg) c.7103A>G (p.Lys2368Arg) c.7166A>G (p.Lys2389Arg) c.7163A>G (p.Lys2388Arg) c.7109A>G (p.Lys2370Arg) c.7079A>G (p.Lys2360Arg) c.7034A>G (p.Lys2345Arg) c.6629A>G (p.Lys2210Arg) c.5987A>G (p.Lys1996Arg) c.3497A>G (p.Lys1166Arg) | |
10 | g.71798498A>T | CA377158110 | CDH23 | c.6974A>T (p.Lys2325Met) c.907A>T (n.907A>T) c.571A>T (n.571A>T) c.6989A>T (p.Lys2330Met) c.254A>T (p.Lys85Met) n.510A>T c.7169A>T (p.Lys2390Met) c.7103A>T (p.Lys2368Met) c.7166A>T (p.Lys2389Met) c.7163A>T (p.Lys2388Met) c.7109A>T (p.Lys2370Met) c.7079A>T (p.Lys2360Met) c.7034A>T (p.Lys2345Met) c.6629A>T (p.Lys2210Met) c.5987A>T (p.Lys1996Met) c.3497A>T (p.Lys1166Met) | |
10 | g.71798499G>A | CA470062082 | CDH23 | c.6975G>A (p.Lys2325=) c.908G>A (n.908G>A) c.572G>A (n.572G>A) c.6990G>A (p.Lys2330=) c.255G>A (p.Lys85=) n.511G>A c.7170G>A (p.Lys2390=) c.7104G>A (p.Lys2368=) c.7167G>A (p.Lys2389=) c.7164G>A (p.Lys2388=) c.7110G>A (p.Lys2370=) c.7080G>A (p.Lys2360=) c.7035G>A (p.Lys2345=) c.6630G>A (p.Lys2210=) c.5988G>A (p.Lys1996=) c.3498G>A (p.Lys1166=) | ClinVar dbSNP |
10 | g.71798499G>C | CA377158111 | CDH23 | c.6975G>C (p.Lys2325Asn) c.908G>C (n.908G>C) c.572G>C (n.572G>C) c.6990G>C (p.Lys2330Asn) c.255G>C (p.Lys85Asn) n.511G>C c.7170G>C (p.Lys2390Asn) c.7104G>C (p.Lys2368Asn) c.7167G>C (p.Lys2389Asn) c.7164G>C (p.Lys2388Asn) c.7110G>C (p.Lys2370Asn) c.7080G>C (p.Lys2360Asn) c.7035G>C (p.Lys2345Asn) c.6630G>C (p.Lys2210Asn) c.5988G>C (p.Lys1996Asn) c.3498G>C (p.Lys1166Asn) | |
10 | g.71798499G>T | CA377158113 | CDH23 | c.6975G>T (p.Lys2325Asn) c.908G>T (n.908G>T) c.572G>T (n.572G>T) c.6990G>T (p.Lys2330Asn) c.255G>T (p.Lys85Asn) n.511G>T c.7170G>T (p.Lys2390Asn) c.7104G>T (p.Lys2368Asn) c.7167G>T (p.Lys2389Asn) c.7164G>T (p.Lys2388Asn) c.7110G>T (p.Lys2370Asn) c.7080G>T (p.Lys2360Asn) c.7035G>T (p.Lys2345Asn) c.6630G>T (p.Lys2210Asn) c.5988G>T (p.Lys1996Asn) c.3498G>T (p.Lys1166Asn) | |
10 | g.71798500G>A | CA377158115 | CDH23 | c.6976G>A (p.Gly2326Ser) c.909G>A (n.909G>A) c.573G>A (n.573G>A) c.6991G>A (p.Gly2331Ser) c.256G>A (p.Gly86Ser) n.512G>A c.7171G>A (p.Gly2391Ser) c.7105G>A (p.Gly2369Ser) c.7168G>A (p.Gly2390Ser) c.7165G>A (p.Gly2389Ser) c.7111G>A (p.Gly2371Ser) c.7081G>A (p.Gly2361Ser) c.7036G>A (p.Gly2346Ser) c.6631G>A (p.Gly2211Ser) c.5989G>A (p.Gly1997Ser) c.3499G>A (p.Gly1167Ser) | |
10 | g.71798500G>C | CA377158116 | CDH23 | c.6976G>C (p.Gly2326Arg) c.909G>C (n.909G>C) c.573G>C (n.573G>C) c.6991G>C (p.Gly2331Arg) c.256G>C (p.Gly86Arg) n.512G>C c.7171G>C (p.Gly2391Arg) c.7105G>C (p.Gly2369Arg) c.7168G>C (p.Gly2390Arg) c.7165G>C (p.Gly2389Arg) c.7111G>C (p.Gly2371Arg) c.7081G>C (p.Gly2361Arg) c.7036G>C (p.Gly2346Arg) c.6631G>C (p.Gly2211Arg) c.5989G>C (p.Gly1997Arg) c.3499G>C (p.Gly1167Arg) | |
10 | g.71798500G>T | CA377158118 | CDH23 | c.6976G>T (p.Gly2326Cys) c.909G>T (n.909G>T) c.573G>T (n.573G>T) c.6991G>T (p.Gly2331Cys) c.256G>T (p.Gly86Cys) n.512G>T c.7171G>T (p.Gly2391Cys) c.7105G>T (p.Gly2369Cys) c.7168G>T (p.Gly2390Cys) c.7165G>T (p.Gly2389Cys) c.7111G>T (p.Gly2371Cys) c.7081G>T (p.Gly2361Cys) c.7036G>T (p.Gly2346Cys) c.6631G>T (p.Gly2211Cys) c.5989G>T (p.Gly1997Cys) c.3499G>T (p.Gly1167Cys) | |
10 | g.71798501G>A | CA377158121 | CDH23 | c.6977G>A (p.Gly2326Asp) c.910G>A (n.910G>A) c.574G>A (n.574G>A) c.6992G>A (p.Gly2331Asp) c.257G>A (p.Gly86Asp) n.513G>A c.7172G>A (p.Gly2391Asp) c.7106G>A (p.Gly2369Asp) c.7169G>A (p.Gly2390Asp) c.7166G>A (p.Gly2389Asp) c.7112G>A (p.Gly2371Asp) c.7082G>A (p.Gly2361Asp) c.7037G>A (p.Gly2346Asp) c.6632G>A (p.Gly2211Asp) c.5990G>A (p.Gly1997Asp) c.3500G>A (p.Gly1167Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71798501G>C | CA377158126 | CDH23 | c.6977G>C (p.Gly2326Ala) c.910G>C (n.910G>C) c.574G>C (n.574G>C) c.6992G>C (p.Gly2331Ala) c.257G>C (p.Gly86Ala) n.513G>C c.7172G>C (p.Gly2391Ala) c.7106G>C (p.Gly2369Ala) c.7169G>C (p.Gly2390Ala) c.7166G>C (p.Gly2389Ala) c.7112G>C (p.Gly2371Ala) c.7082G>C (p.Gly2361Ala) c.7037G>C (p.Gly2346Ala) c.6632G>C (p.Gly2211Ala) c.5990G>C (p.Gly1997Ala) c.3500G>C (p.Gly1167Ala) | |
10 | g.71798501G= | CA1918878472 | CDH23 | c.6977G= (p.Gly2326=) c.910G= (n.910G=) c.574G= (n.574G=) c.6992G= (p.Gly2331=) c.257G= (p.Gly86=) n.513G= c.7172G= (p.Gly2391=) c.7106G= (p.Gly2369=) c.7169G= (p.Gly2390=) c.7166G= (p.Gly2389=) c.7112G= (p.Gly2371=) c.7082G= (p.Gly2361=) c.7037G= (p.Gly2346=) c.6632G= (p.Gly2211=) c.5990G= (p.Gly1997=) c.3500G= (p.Gly1167=) | |
10 | g.71798501G>T | CA377158119 | CDH23 | c.6977G>T (p.Gly2326Val) c.910G>T (n.910G>T) c.574G>T (n.574G>T) c.6992G>T (p.Gly2331Val) c.257G>T (p.Gly86Val) n.513G>T c.7172G>T (p.Gly2391Val) c.7106G>T (p.Gly2369Val) c.7169G>T (p.Gly2390Val) c.7166G>T (p.Gly2389Val) c.7112G>T (p.Gly2371Val) c.7082G>T (p.Gly2361Val) c.7037G>T (p.Gly2346Val) c.6632G>T (p.Gly2211Val) c.5990G>T (p.Gly1997Val) c.3500G>T (p.Gly1167Val) | |
10 | g.71798502C>A | CA470062083 | CDH23 | c.6978C>A (p.Gly2326=) c.911C>A (n.911C>A) c.575C>A (n.575C>A) c.6993C>A (p.Gly2331=) c.258C>A (p.Gly86=) n.514C>A c.7173C>A (p.Gly2391=) c.7107C>A (p.Gly2369=) c.7170C>A (p.Gly2390=) c.7167C>A (p.Gly2389=) c.7113C>A (p.Gly2371=) c.7083C>A (p.Gly2361=) c.7038C>A (p.Gly2346=) c.6633C>A (p.Gly2211=) c.5991C>A (p.Gly1997=) c.3501C>A (p.Gly1167=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.71798502C= | CA1918878473 | CDH23 | c.6978C= (p.Gly2326=) c.911C= (n.911C=) c.575C= (n.575C=) c.6993C= (p.Gly2331=) c.258C= (p.Gly86=) n.514C= c.7173C= (p.Gly2391=) c.7107C= (p.Gly2369=) c.7170C= (p.Gly2390=) c.7167C= (p.Gly2389=) c.7113C= (p.Gly2371=) c.7083C= (p.Gly2361=) c.7038C= (p.Gly2346=) c.6633C= (p.Gly2211=) c.5991C= (p.Gly1997=) c.3501C= (p.Gly1167=) | |
10 | g.71798502C>G | CA470062084 | CDH23 | c.6978C>G (p.Gly2326=) c.911C>G (n.911C>G) c.575C>G (n.575C>G) c.6993C>G (p.Gly2331=) c.258C>G (p.Gly86=) n.514C>G c.7173C>G (p.Gly2391=) c.7107C>G (p.Gly2369=) c.7170C>G (p.Gly2390=) c.7167C>G (p.Gly2389=) c.7113C>G (p.Gly2371=) c.7083C>G (p.Gly2361=) c.7038C>G (p.Gly2346=) c.6633C>G (p.Gly2211=) c.5991C>G (p.Gly1997=) c.3501C>G (p.Gly1167=) | |
10 | g.71798502C>T | CA470062085 | CDH23 | c.6978C>T (p.Gly2326=) c.911C>T (n.911C>T) c.575C>T (n.575C>T) c.6993C>T (p.Gly2331=) c.258C>T (p.Gly86=) n.514C>T c.7173C>T (p.Gly2391=) c.7107C>T (p.Gly2369=) c.7170C>T (p.Gly2390=) c.7167C>T (p.Gly2389=) c.7113C>T (p.Gly2371=) c.7083C>T (p.Gly2361=) c.7038C>T (p.Gly2346=) c.6633C>T (p.Gly2211=) c.5991C>T (p.Gly1997=) c.3501C>T (p.Gly1167=) | ClinVar dbSNP gnomAD v4 |
10 | g.71798503C>A | CA377158129 | CDH23 | c.6979C>A (p.Leu2327Ile) c.912C>A (n.912C>A) c.576C>A (n.576C>A) c.6994C>A (p.Leu2332Ile) c.259C>A (p.Leu87Ile) n.515C>A c.7174C>A (p.Leu2392Ile) c.7108C>A (p.Leu2370Ile) c.7171C>A (p.Leu2391Ile) c.7168C>A (p.Leu2390Ile) c.7114C>A (p.Leu2372Ile) c.7084C>A (p.Leu2362Ile) c.7039C>A (p.Leu2347Ile) c.6634C>A (p.Leu2212Ile) c.5992C>A (p.Leu1998Ile) c.3502C>A (p.Leu1168Ile) | |
10 | g.71798503C= | CA1918878474 | CDH23 | c.6979C= (p.Leu2327=) c.912C= (n.912C=) c.576C= (n.576C=) c.6994C= (p.Leu2332=) c.259C= (p.Leu87=) n.515C= c.7174C= (p.Leu2392=) c.7108C= (p.Leu2370=) c.7171C= (p.Leu2391=) c.7168C= (p.Leu2390=) c.7114C= (p.Leu2372=) c.7084C= (p.Leu2362=) c.7039C= (p.Leu2347=) c.6634C= (p.Leu2212=) c.5992C= (p.Leu1998=) c.3502C= (p.Leu1168=) | |
10 | g.71798503C>G | CA377158131 | CDH23 | c.6979C>G (p.Leu2327Val) c.912C>G (n.912C>G) c.576C>G (n.576C>G) c.6994C>G (p.Leu2332Val) c.259C>G (p.Leu87Val) n.515C>G c.7174C>G (p.Leu2392Val) c.7108C>G (p.Leu2370Val) c.7171C>G (p.Leu2391Val) c.7168C>G (p.Leu2390Val) c.7114C>G (p.Leu2372Val) c.7084C>G (p.Leu2362Val) c.7039C>G (p.Leu2347Val) c.6634C>G (p.Leu2212Val) c.5992C>G (p.Leu1998Val) c.3502C>G (p.Leu1168Val) | |
10 | g.71798503C>T | CA377158133 | CDH23 | c.6979C>T (p.Leu2327Phe) c.912C>T (n.912C>T) c.576C>T (n.576C>T) c.6994C>T (p.Leu2332Phe) c.259C>T (p.Leu87Phe) n.515C>T c.7174C>T (p.Leu2392Phe) c.7108C>T (p.Leu2370Phe) c.7171C>T (p.Leu2391Phe) c.7168C>T (p.Leu2390Phe) c.7114C>T (p.Leu2372Phe) c.7084C>T (p.Leu2362Phe) c.7039C>T (p.Leu2347Phe) c.6634C>T (p.Leu2212Phe) c.5992C>T (p.Leu1998Phe) c.3502C>T (p.Leu1168Phe) | dbSNP |
10 | g.71798504T>A | CA209469637 | CDH23 | c.6980T>A (p.Leu2327His) c.913T>A (n.913T>A) c.577T>A (n.577T>A) c.6995T>A (p.Leu2332His) c.260T>A (p.Leu87His) n.516T>A c.7175T>A (p.Leu2392His) c.7109T>A (p.Leu2370His) c.7172T>A (p.Leu2391His) c.7169T>A (p.Leu2390His) c.7115T>A (p.Leu2372His) c.7085T>A (p.Leu2362His) c.7040T>A (p.Leu2347His) c.6635T>A (p.Leu2212His) c.5993T>A (p.Leu1998His) c.3503T>A (p.Leu1168His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71798504T>C | CA377158134 | CDH23 | c.6980T>C (p.Leu2327Pro) c.913T>C (n.913T>C) c.577T>C (n.577T>C) c.6995T>C (p.Leu2332Pro) c.260T>C (p.Leu87Pro) n.516T>C c.7175T>C (p.Leu2392Pro) c.7109T>C (p.Leu2370Pro) c.7172T>C (p.Leu2391Pro) c.7169T>C (p.Leu2390Pro) c.7115T>C (p.Leu2372Pro) c.7085T>C (p.Leu2362Pro) c.7040T>C (p.Leu2347Pro) c.6635T>C (p.Leu2212Pro) c.5993T>C (p.Leu1998Pro) c.3503T>C (p.Leu1168Pro) | |
10 | g.71798504T>G | CA377158136 | CDH23 | c.6980T>G (p.Leu2327Arg) c.913T>G (n.913T>G) c.577T>G (n.577T>G) c.6995T>G (p.Leu2332Arg) c.260T>G (p.Leu87Arg) n.516T>G c.7175T>G (p.Leu2392Arg) c.7109T>G (p.Leu2370Arg) c.7172T>G (p.Leu2391Arg) c.7169T>G (p.Leu2390Arg) c.7115T>G (p.Leu2372Arg) c.7085T>G (p.Leu2362Arg) c.7040T>G (p.Leu2347Arg) c.6635T>G (p.Leu2212Arg) c.5993T>G (p.Leu1998Arg) c.3503T>G (p.Leu1168Arg) | gnomAD v4 |
10 | g.71798504T= | CA1918878475 | CDH23 | c.6980T= (p.Leu2327=) c.913T= (n.913T=) c.577T= (n.577T=) c.6995T= (p.Leu2332=) c.260T= (p.Leu87=) n.516T= c.7175T= (p.Leu2392=) c.7109T= (p.Leu2370=) c.7172T= (p.Leu2391=) c.7169T= (p.Leu2390=) c.7115T= (p.Leu2372=) c.7085T= (p.Leu2362=) c.7040T= (p.Leu2347=) c.6635T= (p.Leu2212=) c.5993T= (p.Leu1998=) c.3503T= (p.Leu1168=) | |
10 | g.71798505T>A | CA470062088 | CDH23 | c.6981T>A (p.Leu2327=) c.914T>A (n.914T>A) c.578T>A (n.578T>A) c.6996T>A (p.Leu2332=) c.261T>A (p.Leu87=) n.517T>A c.7176T>A (p.Leu2392=) c.7110T>A (p.Leu2370=) c.7173T>A (p.Leu2391=) c.7170T>A (p.Leu2390=) c.7116T>A (p.Leu2372=) c.7086T>A (p.Leu2362=) c.7041T>A (p.Leu2347=) c.6636T>A (p.Leu2212=) c.5994T>A (p.Leu1998=) c.3504T>A (p.Leu1168=) | |
10 | g.71798505T>C | CA470062087 | CDH23 | c.6981T>C (p.Leu2327=) c.914T>C (n.914T>C) c.578T>C (n.578T>C) c.6996T>C (p.Leu2332=) c.261T>C (p.Leu87=) n.517T>C c.7176T>C (p.Leu2392=) c.7110T>C (p.Leu2370=) c.7173T>C (p.Leu2391=) c.7170T>C (p.Leu2390=) c.7116T>C (p.Leu2372=) c.7086T>C (p.Leu2362=) c.7041T>C (p.Leu2347=) c.6636T>C (p.Leu2212=) c.5994T>C (p.Leu1998=) c.3504T>C (p.Leu1168=) | |
10 | g.71798505T>G | CA470062086 | CDH23 | c.6981T>G (p.Leu2327=) c.914T>G (n.914T>G) c.578T>G (n.578T>G) c.6996T>G (p.Leu2332=) c.261T>G (p.Leu87=) n.517T>G c.7176T>G (p.Leu2392=) c.7110T>G (p.Leu2370=) c.7173T>G (p.Leu2391=) c.7170T>G (p.Leu2390=) c.7116T>G (p.Leu2372=) c.7086T>G (p.Leu2362=) c.7041T>G (p.Leu2347=) c.6636T>G (p.Leu2212=) c.5994T>G (p.Leu1998=) c.3504T>G (p.Leu1168=) | |
10 | g.71798506A= | CA1918878476 | CDH23 | c.6982A= (p.Asn2328=) c.915A= (n.915A=) c.579A= (n.579A=) c.6997A= (p.Asn2333=) c.262A= (p.Asn88=) n.518A= c.7177A= (p.Asn2393=) c.7111A= (p.Asn2371=) c.7174A= (p.Asn2392=) c.7171A= (p.Asn2391=) c.7117A= (p.Asn2373=) c.7087A= (p.Asn2363=) c.7042A= (p.Asn2348=) c.6637A= (p.Asn2213=) c.5995A= (p.Asn1999=) c.3505A= (p.Asn1169=) | |
10 | g.71798506A>C | CA377158156 | CDH23 | c.6982A>C (p.Asn2328His) c.915A>C (n.915A>C) c.579A>C (n.579A>C) c.6997A>C (p.Asn2333His) c.262A>C (p.Asn88His) n.518A>C c.7177A>C (p.Asn2393His) c.7111A>C (p.Asn2371His) c.7174A>C (p.Asn2392His) c.7171A>C (p.Asn2391His) c.7117A>C (p.Asn2373His) c.7087A>C (p.Asn2363His) c.7042A>C (p.Asn2348His) c.6637A>C (p.Asn2213His) c.5995A>C (p.Asn1999His) c.3505A>C (p.Asn1169His) | |
10 | g.71798506A>G | CA377158142 | CDH23 | c.6982A>G (p.Asn2328Asp) c.915A>G (n.915A>G) c.579A>G (n.579A>G) c.6997A>G (p.Asn2333Asp) c.262A>G (p.Asn88Asp) n.518A>G c.7177A>G (p.Asn2393Asp) c.7111A>G (p.Asn2371Asp) c.7174A>G (p.Asn2392Asp) c.7171A>G (p.Asn2391Asp) c.7117A>G (p.Asn2373Asp) c.7087A>G (p.Asn2363Asp) c.7042A>G (p.Asn2348Asp) c.6637A>G (p.Asn2213Asp) c.5995A>G (p.Asn1999Asp) c.3505A>G (p.Asn1169Asp) | dbSNP gnomAD v4 |
10 | g.71798506A>T | CA377158155 | CDH23 | c.6982A>T (p.Asn2328Tyr) c.915A>T (n.915A>T) c.579A>T (n.579A>T) c.6997A>T (p.Asn2333Tyr) c.262A>T (p.Asn88Tyr) n.518A>T c.7177A>T (p.Asn2393Tyr) c.7111A>T (p.Asn2371Tyr) c.7174A>T (p.Asn2392Tyr) c.7171A>T (p.Asn2391Tyr) c.7117A>T (p.Asn2373Tyr) c.7087A>T (p.Asn2363Tyr) c.7042A>T (p.Asn2348Tyr) c.6637A>T (p.Asn2213Tyr) c.5995A>T (p.Asn1999Tyr) c.3505A>T (p.Asn1169Tyr) | |
10 | g.71798507A>C | CA377158158 | CDH23 | c.6983A>C (p.Asn2328Thr) c.916A>C (n.916A>C) c.580A>C (n.580A>C) c.6998A>C (p.Asn2333Thr) c.263A>C (p.Asn88Thr) n.519A>C c.7178A>C (p.Asn2393Thr) c.7112A>C (p.Asn2371Thr) c.7175A>C (p.Asn2392Thr) c.7172A>C (p.Asn2391Thr) c.7118A>C (p.Asn2373Thr) c.7088A>C (p.Asn2363Thr) c.7043A>C (p.Asn2348Thr) c.6638A>C (p.Asn2213Thr) c.5996A>C (p.Asn1999Thr) c.3506A>C (p.Asn1169Thr) | |
10 | g.71798507A>G | CA377158160 | CDH23 | c.6983A>G (p.Asn2328Ser) c.916A>G (n.916A>G) c.580A>G (n.580A>G) c.6998A>G (p.Asn2333Ser) c.263A>G (p.Asn88Ser) n.519A>G c.7178A>G (p.Asn2393Ser) c.7112A>G (p.Asn2371Ser) c.7175A>G (p.Asn2392Ser) c.7172A>G (p.Asn2391Ser) c.7118A>G (p.Asn2373Ser) c.7088A>G (p.Asn2363Ser) c.7043A>G (p.Asn2348Ser) c.6638A>G (p.Asn2213Ser) c.5996A>G (p.Asn1999Ser) c.3506A>G (p.Asn1169Ser) | |
10 | g.71798507A>T | CA377158167 | CDH23 | c.6983A>T (p.Asn2328Ile) c.916A>T (n.916A>T) c.580A>T (n.580A>T) c.6998A>T (p.Asn2333Ile) c.263A>T (p.Asn88Ile) n.519A>T c.7178A>T (p.Asn2393Ile) c.7112A>T (p.Asn2371Ile) c.7175A>T (p.Asn2392Ile) c.7172A>T (p.Asn2391Ile) c.7118A>T (p.Asn2373Ile) c.7088A>T (p.Asn2363Ile) c.7043A>T (p.Asn2348Ile) c.6638A>T (p.Asn2213Ile) c.5996A>T (p.Asn1999Ile) c.3506A>T (p.Asn1169Ile) | |
10 | g.71798508T>A | CA377158169 | CDH23 | c.6984T>A (p.Asn2328Lys) c.917T>A (n.917T>A) c.581T>A (n.581T>A) c.6999T>A (p.Asn2333Lys) c.264T>A (p.Asn88Lys) n.520T>A c.7179T>A (p.Asn2393Lys) c.7113T>A (p.Asn2371Lys) c.7176T>A (p.Asn2392Lys) c.7173T>A (p.Asn2391Lys) c.7119T>A (p.Asn2373Lys) c.7089T>A (p.Asn2363Lys) c.7044T>A (p.Asn2348Lys) c.6639T>A (p.Asn2213Lys) c.5997T>A (p.Asn1999Lys) c.3507T>A (p.Asn1169Lys) | |
10 | g.71798508T>C | CA470062089 | CDH23 | c.6984T>C (p.Asn2328=) c.917T>C (n.917T>C) c.581T>C (n.581T>C) c.6999T>C (p.Asn2333=) c.264T>C (p.Asn88=) n.520T>C c.7179T>C (p.Asn2393=) c.7113T>C (p.Asn2371=) c.7176T>C (p.Asn2392=) c.7173T>C (p.Asn2391=) c.7119T>C (p.Asn2373=) c.7089T>C (p.Asn2363=) c.7044T>C (p.Asn2348=) c.6639T>C (p.Asn2213=) c.5997T>C (p.Asn1999=) c.3507T>C (p.Asn1169=) | |
10 | g.71798508T>G | CA377158170 | CDH23 | c.6984T>G (p.Asn2328Lys) c.917T>G (n.917T>G) c.581T>G (n.581T>G) c.6999T>G (p.Asn2333Lys) c.264T>G (p.Asn88Lys) n.520T>G c.7179T>G (p.Asn2393Lys) c.7113T>G (p.Asn2371Lys) c.7176T>G (p.Asn2392Lys) c.7173T>G (p.Asn2391Lys) c.7119T>G (p.Asn2373Lys) c.7089T>G (p.Asn2363Lys) c.7044T>G (p.Asn2348Lys) c.6639T>G (p.Asn2213Lys) c.5997T>G (p.Asn1999Lys) c.3507T>G (p.Asn1169Lys) | |
10 | g.71798509G>A | CA377158178 | CDH23 | c.6985G>A (p.Gly2329Arg) c.918G>A (n.918G>A) c.582G>A (n.582G>A) c.7000G>A (p.Gly2334Arg) c.265G>A (p.Gly89Arg) n.521G>A c.7180G>A (p.Gly2394Arg) c.7114G>A (p.Gly2372Arg) c.7177G>A (p.Gly2393Arg) c.7174G>A (p.Gly2392Arg) c.7120G>A (p.Gly2374Arg) c.7090G>A (p.Gly2364Arg) c.7045G>A (p.Gly2349Arg) c.6640G>A (p.Gly2214Arg) c.5998G>A (p.Gly2000Arg) c.3508G>A (p.Gly1170Arg) | |
10 | g.71798509G>C | CA377158173 | CDH23 | c.6985G>C (p.Gly2329Arg) c.918G>C (n.918G>C) c.582G>C (n.582G>C) c.7000G>C (p.Gly2334Arg) c.265G>C (p.Gly89Arg) n.521G>C c.7180G>C (p.Gly2394Arg) c.7114G>C (p.Gly2372Arg) c.7177G>C (p.Gly2393Arg) c.7174G>C (p.Gly2392Arg) c.7120G>C (p.Gly2374Arg) c.7090G>C (p.Gly2364Arg) c.7045G>C (p.Gly2349Arg) c.6640G>C (p.Gly2214Arg) c.5998G>C (p.Gly2000Arg) c.3508G>C (p.Gly1170Arg) | |
10 | g.71798509G>T | CA377158175 | CDH23 | c.6985G>T (p.Gly2329Trp) c.918G>T (n.918G>T) c.582G>T (n.582G>T) c.7000G>T (p.Gly2334Trp) c.265G>T (p.Gly89Trp) n.521G>T c.7180G>T (p.Gly2394Trp) c.7114G>T (p.Gly2372Trp) c.7177G>T (p.Gly2393Trp) c.7174G>T (p.Gly2392Trp) c.7120G>T (p.Gly2374Trp) c.7090G>T (p.Gly2364Trp) c.7045G>T (p.Gly2349Trp) c.6640G>T (p.Gly2214Trp) c.5998G>T (p.Gly2000Trp) c.3508G>T (p.Gly1170Trp) | gnomAD v4 |
10 | g.71798511dup | CA2839192541 | CDH23 | c.6987dup (p.Leu2330AlafsTer?) c.920dup (n.920dup) c.584dup (n.584dup) c.7002dup (p.Leu2335AlafsTer?) c.267dup (p.Leu90AlafsTer?) n.523dup c.7182dup (p.Leu2395AlafsTer?) c.7116dup (p.Leu2373AlafsTer?) c.7179dup (p.Leu2394AlafsTer?) c.7176dup (p.Leu2393AlafsTer?) c.7122dup (p.Leu2375AlafsTer?) c.7092dup (p.Leu2365AlafsTer?) c.7047dup (p.Leu2350AlafsTer?) c.6642dup (p.Leu2215AlafsTer?) c.6000dup (p.Leu2001AlafsTer?) c.3510dup (p.Leu1171AlafsTer?) | |
10 | g.71798511del | CA2831039293 | CDH23 | c.6987del (p.Leu2330TrpfsTer?) c.920del (n.920del) c.584del (n.584del) c.7002del (p.Leu2335TrpfsTer?) c.267del (p.Leu90TrpfsTer?) n.523del c.7182del (p.Leu2395TrpfsTer?) c.7116del (p.Leu2373TrpfsTer?) c.7179del (p.Leu2394TrpfsTer?) c.7176del (p.Leu2393TrpfsTer?) c.7122del (p.Leu2375TrpfsTer?) c.7092del (p.Leu2365TrpfsTer?) c.7047del (p.Leu2350TrpfsTer?) c.6642del (p.Leu2215TrpfsTer?) c.6000del (p.Leu2001TrpfsTer?) c.3510del (p.Leu1171TrpfsTer?) | |
10 | g.71798510G>A | CA377158179 | CDH23 | c.6986G>A (p.Gly2329Glu) c.919G>A (n.919G>A) c.583G>A (n.583G>A) c.7001G>A (p.Gly2334Glu) c.266G>A (p.Gly89Glu) n.522G>A c.7181G>A (p.Gly2394Glu) c.7115G>A (p.Gly2372Glu) c.7178G>A (p.Gly2393Glu) c.7175G>A (p.Gly2392Glu) c.7121G>A (p.Gly2374Glu) c.7091G>A (p.Gly2364Glu) c.7046G>A (p.Gly2349Glu) c.6641G>A (p.Gly2214Glu) c.5999G>A (p.Gly2000Glu) c.3509G>A (p.Gly1170Glu) | ClinVar |
10 | g.71798510G>C | CA377158180 | CDH23 | c.6986G>C (p.Gly2329Ala) c.919G>C (n.919G>C) c.583G>C (n.583G>C) c.7001G>C (p.Gly2334Ala) c.266G>C (p.Gly89Ala) n.522G>C c.7181G>C (p.Gly2394Ala) c.7115G>C (p.Gly2372Ala) c.7178G>C (p.Gly2393Ala) c.7175G>C (p.Gly2392Ala) c.7121G>C (p.Gly2374Ala) c.7091G>C (p.Gly2364Ala) c.7046G>C (p.Gly2349Ala) c.6641G>C (p.Gly2214Ala) c.5999G>C (p.Gly2000Ala) c.3509G>C (p.Gly1170Ala) | |
10 | g.71798510G>T | CA377158181 | CDH23 | c.6986G>T (p.Gly2329Val) c.919G>T (n.919G>T) c.583G>T (n.583G>T) c.7001G>T (p.Gly2334Val) c.266G>T (p.Gly89Val) n.522G>T c.7181G>T (p.Gly2394Val) c.7115G>T (p.Gly2372Val) c.7178G>T (p.Gly2393Val) c.7175G>T (p.Gly2392Val) c.7121G>T (p.Gly2374Val) c.7091G>T (p.Gly2364Val) c.7046G>T (p.Gly2349Val) c.6641G>T (p.Gly2214Val) c.5999G>T (p.Gly2000Val) c.3509G>T (p.Gly1170Val) | gnomAD v4 |
10 | g.71798511G>A | CA470062090 | CDH23 | c.6987G>A (p.Gly2329=) c.920G>A (n.920G>A) c.584G>A (n.584G>A) c.7002G>A (p.Gly2334=) c.267G>A (p.Gly89=) n.523G>A c.7182G>A (p.Gly2394=) c.7116G>A (p.Gly2372=) c.7179G>A (p.Gly2393=) c.7176G>A (p.Gly2392=) c.7122G>A (p.Gly2374=) c.7092G>A (p.Gly2364=) c.7047G>A (p.Gly2349=) c.6642G>A (p.Gly2214=) c.6000G>A (p.Gly2000=) c.3510G>A (p.Gly1170=) | ClinVar dbSNP gnomAD v4 |
10 | g.71798511G>C | CA470062091 | CDH23 | c.6987G>C (p.Gly2329=) c.920G>C (n.920G>C) c.584G>C (n.584G>C) c.7002G>C (p.Gly2334=) c.267G>C (p.Gly89=) n.523G>C c.7182G>C (p.Gly2394=) c.7116G>C (p.Gly2372=) c.7179G>C (p.Gly2393=) c.7176G>C (p.Gly2392=) c.7122G>C (p.Gly2374=) c.7092G>C (p.Gly2364=) c.7047G>C (p.Gly2349=) c.6642G>C (p.Gly2214=) c.6000G>C (p.Gly2000=) c.3510G>C (p.Gly1170=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71798511G= | CA1918878477 | CDH23 | c.6987G= (p.Gly2329=) c.920G= (n.920G=) c.584G= (n.584G=) c.7002G= (p.Gly2334=) c.267G= (p.Gly89=) n.523G= c.7182G= (p.Gly2394=) c.7116G= (p.Gly2372=) c.7179G= (p.Gly2393=) c.7176G= (p.Gly2392=) c.7122G= (p.Gly2374=) c.7092G= (p.Gly2364=) c.7047G= (p.Gly2349=) c.6642G= (p.Gly2214=) c.6000G= (p.Gly2000=) c.3510G= (p.Gly1170=) | |
10 | g.71798511G>T | CA470062092 | CDH23 | c.6987G>T (p.Gly2329=) c.920G>T (n.920G>T) c.584G>T (n.584G>T) c.7002G>T (p.Gly2334=) c.267G>T (p.Gly89=) n.523G>T c.7182G>T (p.Gly2394=) c.7116G>T (p.Gly2372=) c.7179G>T (p.Gly2393=) c.7176G>T (p.Gly2392=) c.7122G>T (p.Gly2374=) c.7092G>T (p.Gly2364=) c.7047G>T (p.Gly2349=) c.6642G>T (p.Gly2214=) c.6000G>T (p.Gly2000=) c.3510G>T (p.Gly1170=) | gnomAD v4 |
10 | g.71798512C>A | CA377158182 | CDH23 | c.6988C>A (p.Leu2330Met) c.921C>A (n.921C>A) c.585C>A (n.585C>A) c.7003C>A (p.Leu2335Met) c.268C>A (p.Leu90Met) n.524C>A c.7183C>A (p.Leu2395Met) c.7117C>A (p.Leu2373Met) c.7180C>A (p.Leu2394Met) c.7177C>A (p.Leu2393Met) c.7123C>A (p.Leu2375Met) c.7093C>A (p.Leu2365Met) c.7048C>A (p.Leu2350Met) c.6643C>A (p.Leu2215Met) c.6001C>A (p.Leu2001Met) c.3511C>A (p.Leu1171Met) | |
10 | g.71798512C= | CA1918878478 | CDH23 | c.6988C= (p.Leu2330=) c.921C= (n.921C=) c.585C= (n.585C=) c.7003C= (p.Leu2335=) c.268C= (p.Leu90=) n.524C= c.7183C= (p.Leu2395=) c.7117C= (p.Leu2373=) c.7180C= (p.Leu2394=) c.7177C= (p.Leu2393=) c.7123C= (p.Leu2375=) c.7093C= (p.Leu2365=) c.7048C= (p.Leu2350=) c.6643C= (p.Leu2215=) c.6001C= (p.Leu2001=) c.3511C= (p.Leu1171=) | |
10 | g.71798512C>G | CA377158183 | CDH23 | c.6988C>G (p.Leu2330Val) c.921C>G (n.921C>G) c.585C>G (n.585C>G) c.7003C>G (p.Leu2335Val) c.268C>G (p.Leu90Val) n.524C>G c.7183C>G (p.Leu2395Val) c.7117C>G (p.Leu2373Val) c.7180C>G (p.Leu2394Val) c.7177C>G (p.Leu2393Val) c.7123C>G (p.Leu2375Val) c.7093C>G (p.Leu2365Val) c.7048C>G (p.Leu2350Val) c.6643C>G (p.Leu2215Val) c.6001C>G (p.Leu2001Val) c.3511C>G (p.Leu1171Val) | |
10 | g.71798512C>T | CA470062093 | CDH23 | c.6988C>T (p.Leu2330=) c.921C>T (n.921C>T) c.585C>T (n.585C>T) c.7003C>T (p.Leu2335=) c.268C>T (p.Leu90=) n.524C>T c.7183C>T (p.Leu2395=) c.7117C>T (p.Leu2373=) c.7180C>T (p.Leu2394=) c.7177C>T (p.Leu2393=) c.7123C>T (p.Leu2375=) c.7093C>T (p.Leu2365=) c.7048C>T (p.Leu2350=) c.6643C>T (p.Leu2215=) c.6001C>T (p.Leu2001=) c.3511C>T (p.Leu1171=) | dbSNP |
10 | g.71798513T>A | CA377158186 | CDH23 | c.6989T>A (p.Leu2330Gln) c.922T>A (n.922T>A) c.586T>A (n.586T>A) c.7004T>A (p.Leu2335Gln) c.269T>A (p.Leu90Gln) n.525T>A c.7184T>A (p.Leu2395Gln) c.7118T>A (p.Leu2373Gln) c.7181T>A (p.Leu2394Gln) c.7178T>A (p.Leu2393Gln) c.7124T>A (p.Leu2375Gln) c.7094T>A (p.Leu2365Gln) c.7049T>A (p.Leu2350Gln) c.6644T>A (p.Leu2215Gln) c.6002T>A (p.Leu2001Gln) c.3512T>A (p.Leu1171Gln) | dbSNP |
10 | g.71798513T>C | CA377158187 | CDH23 | c.6989T>C (p.Leu2330Pro) c.922T>C (n.922T>C) c.586T>C (n.586T>C) c.7004T>C (p.Leu2335Pro) c.269T>C (p.Leu90Pro) n.525T>C c.7184T>C (p.Leu2395Pro) c.7118T>C (p.Leu2373Pro) c.7181T>C (p.Leu2394Pro) c.7178T>C (p.Leu2393Pro) c.7124T>C (p.Leu2375Pro) c.7094T>C (p.Leu2365Pro) c.7049T>C (p.Leu2350Pro) c.6644T>C (p.Leu2215Pro) c.6002T>C (p.Leu2001Pro) c.3512T>C (p.Leu1171Pro) | |
10 | g.71798513T>G | CA377158188 | CDH23 | c.6989T>G (p.Leu2330Arg) c.922T>G (n.922T>G) c.586T>G (n.586T>G) c.7004T>G (p.Leu2335Arg) c.269T>G (p.Leu90Arg) n.525T>G c.7184T>G (p.Leu2395Arg) c.7118T>G (p.Leu2373Arg) c.7181T>G (p.Leu2394Arg) c.7178T>G (p.Leu2393Arg) c.7124T>G (p.Leu2375Arg) c.7094T>G (p.Leu2365Arg) c.7049T>G (p.Leu2350Arg) c.6644T>G (p.Leu2215Arg) c.6002T>G (p.Leu2001Arg) c.3512T>G (p.Leu1171Arg) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71798513T= | CA1918878479 | CDH23 | c.6989T= (p.Leu2330=) c.922T= (n.922T=) c.586T= (n.586T=) c.7004T= (p.Leu2335=) c.269T= (p.Leu90=) n.525T= c.7184T= (p.Leu2395=) c.7118T= (p.Leu2373=) c.7181T= (p.Leu2394=) c.7178T= (p.Leu2393=) c.7124T= (p.Leu2375=) c.7094T= (p.Leu2365=) c.7049T= (p.Leu2350=) c.6644T= (p.Leu2215=) c.6002T= (p.Leu2001=) c.3512T= (p.Leu1171=) | |
10 | g.71798514G>A | CA470062094 | CDH23 | c.6990G>A (p.Leu2330=) c.923G>A (n.923G>A) c.587G>A (n.587G>A) c.7005G>A (p.Leu2335=) c.270G>A (p.Leu90=) n.526G>A c.7185G>A (p.Leu2395=) c.7119G>A (p.Leu2373=) c.7182G>A (p.Leu2394=) c.7179G>A (p.Leu2393=) c.7125G>A (p.Leu2375=) c.7095G>A (p.Leu2365=) c.7050G>A (p.Leu2350=) c.6645G>A (p.Leu2215=) c.6003G>A (p.Leu2001=) c.3513G>A (p.Leu1171=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.71798514G>C | CA470062095 | CDH23 | c.6990G>C (p.Leu2330=) c.923G>C (n.923G>C) c.587G>C (n.587G>C) c.7005G>C (p.Leu2335=) c.270G>C (p.Leu90=) n.526G>C c.7185G>C (p.Leu2395=) c.7119G>C (p.Leu2373=) c.7182G>C (p.Leu2394=) c.7179G>C (p.Leu2393=) c.7125G>C (p.Leu2375=) c.7095G>C (p.Leu2365=) c.7050G>C (p.Leu2350=) c.6645G>C (p.Leu2215=) c.6003G>C (p.Leu2001=) c.3513G>C (p.Leu1171=) | |
10 | g.71798514G= | CA1918878480 | CDH23 | c.6990G= (p.Leu2330=) c.923G= (n.923G=) c.587G= (n.587G=) c.7005G= (p.Leu2335=) c.270G= (p.Leu90=) n.526G= c.7185G= (p.Leu2395=) c.7119G= (p.Leu2373=) c.7182G= (p.Leu2394=) c.7179G= (p.Leu2393=) c.7125G= (p.Leu2375=) c.7095G= (p.Leu2365=) c.7050G= (p.Leu2350=) c.6645G= (p.Leu2215=) c.6003G= (p.Leu2001=) c.3513G= (p.Leu1171=) | |
10 | g.71798514G>T | CA137558 | CDH23 | c.6990G>T (p.Leu2330=) c.923G>T (n.923G>T) c.587G>T (n.587G>T) c.7005G>T (p.Leu2335=) c.270G>T (p.Leu90=) n.526G>T c.7185G>T (p.Leu2395=) c.7119G>T (p.Leu2373=) c.7182G>T (p.Leu2394=) c.7179G>T (p.Leu2393=) c.7125G>T (p.Leu2375=) c.7095G>T (p.Leu2365=) c.7050G>T (p.Leu2350=) c.6645G>T (p.Leu2215=) c.6003G>T (p.Leu2001=) c.3513G>T (p.Leu1171=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71798515G>A | CA377158198 | CDH23 | c.6991G>A (p.Val2331Ile) c.924G>A (n.924G>A) c.588G>A (n.588G>A) c.7006G>A (p.Val2336Ile) c.271G>A (p.Val91Ile) n.527G>A c.7186G>A (p.Val2396Ile) c.7120G>A (p.Val2374Ile) c.7183G>A (p.Val2395Ile) c.7180G>A (p.Val2394Ile) c.7126G>A (p.Val2376Ile) c.7096G>A (p.Val2366Ile) c.7051G>A (p.Val2351Ile) c.6646G>A (p.Val2216Ile) c.6004G>A (p.Val2002Ile) c.3514G>A (p.Val1172Ile) | gnomAD v4 |
10 | g.71798515G>C | CA377158200 | CDH23 | c.6991G>C (p.Val2331Leu) c.924G>C (n.924G>C) c.588G>C (n.588G>C) c.7006G>C (p.Val2336Leu) c.271G>C (p.Val91Leu) n.527G>C c.7186G>C (p.Val2396Leu) c.7120G>C (p.Val2374Leu) c.7183G>C (p.Val2395Leu) c.7180G>C (p.Val2394Leu) c.7126G>C (p.Val2376Leu) c.7096G>C (p.Val2366Leu) c.7051G>C (p.Val2351Leu) c.6646G>C (p.Val2216Leu) c.6004G>C (p.Val2002Leu) c.3514G>C (p.Val1172Leu) | |
10 | g.71798515G>T | CA377158204 | CDH23 | c.6991G>T (p.Val2331Phe) c.924G>T (n.924G>T) c.588G>T (n.588G>T) c.7006G>T (p.Val2336Phe) c.271G>T (p.Val91Phe) n.527G>T c.7186G>T (p.Val2396Phe) c.7120G>T (p.Val2374Phe) c.7183G>T (p.Val2395Phe) c.7180G>T (p.Val2394Phe) c.7126G>T (p.Val2376Phe) c.7096G>T (p.Val2366Phe) c.7051G>T (p.Val2351Phe) c.6646G>T (p.Val2216Phe) c.6004G>T (p.Val2002Phe) c.3514G>T (p.Val1172Phe) | |
10 | g.71798516T>A | CA377158207 | CDH23 | c.6992T>A (p.Val2331Asp) c.925T>A (n.925T>A) c.589T>A (n.589T>A) c.7007T>A (p.Val2336Asp) c.272T>A (p.Val91Asp) n.528T>A c.7187T>A (p.Val2396Asp) c.7121T>A (p.Val2374Asp) c.7184T>A (p.Val2395Asp) c.7181T>A (p.Val2394Asp) c.7127T>A (p.Val2376Asp) c.7097T>A (p.Val2366Asp) c.7052T>A (p.Val2351Asp) c.6647T>A (p.Val2216Asp) c.6005T>A (p.Val2002Asp) c.3515T>A (p.Val1172Asp) | |
10 | g.71798516T>C | CA377158216 | CDH23 | c.6992T>C (p.Val2331Ala) c.925T>C (n.925T>C) c.589T>C (n.589T>C) c.7007T>C (p.Val2336Ala) c.272T>C (p.Val91Ala) n.528T>C c.7187T>C (p.Val2396Ala) c.7121T>C (p.Val2374Ala) c.7184T>C (p.Val2395Ala) c.7181T>C (p.Val2394Ala) c.7127T>C (p.Val2376Ala) c.7097T>C (p.Val2366Ala) c.7052T>C (p.Val2351Ala) c.6647T>C (p.Val2216Ala) c.6005T>C (p.Val2002Ala) c.3515T>C (p.Val1172Ala) | ClinVar dbSNP |
10 | g.71798516T>G | CA377158210 | CDH23 | c.6992T>G (p.Val2331Gly) c.925T>G (n.925T>G) c.589T>G (n.589T>G) c.7007T>G (p.Val2336Gly) c.272T>G (p.Val91Gly) n.528T>G c.7187T>G (p.Val2396Gly) c.7121T>G (p.Val2374Gly) c.7184T>G (p.Val2395Gly) c.7181T>G (p.Val2394Gly) c.7127T>G (p.Val2376Gly) c.7097T>G (p.Val2366Gly) c.7052T>G (p.Val2351Gly) c.6647T>G (p.Val2216Gly) c.6005T>G (p.Val2002Gly) c.3515T>G (p.Val1172Gly) | |
10 | g.71798517C>A | CA470062098 | CDH23 | c.6993C>A (p.Val2331=) c.926C>A (n.926C>A) c.590C>A (n.590C>A) c.7008C>A (p.Val2336=) c.273C>A (p.Val91=) n.529C>A c.7188C>A (p.Val2396=) c.7122C>A (p.Val2374=) c.7185C>A (p.Val2395=) c.7182C>A (p.Val2394=) c.7128C>A (p.Val2376=) c.7098C>A (p.Val2366=) c.7053C>A (p.Val2351=) c.6648C>A (p.Val2216=) c.6006C>A (p.Val2002=) c.3516C>A (p.Val1172=) | |
10 | g.71798517C= | CA1918878481 | CDH23 | c.6993C= (p.Val2331=) c.926C= (n.926C=) c.590C= (n.590C=) c.7008C= (p.Val2336=) c.273C= (p.Val91=) n.529C= c.7188C= (p.Val2396=) c.7122C= (p.Val2374=) c.7185C= (p.Val2395=) c.7182C= (p.Val2394=) c.7128C= (p.Val2376=) c.7098C= (p.Val2366=) c.7053C= (p.Val2351=) c.6648C= (p.Val2216=) c.6006C= (p.Val2002=) c.3516C= (p.Val1172=) | |
10 | g.71798517C>G | CA5546228 | CDH23 | c.6993C>G (p.Val2331=) c.926C>G (n.926C>G) c.590C>G (n.590C>G) c.7008C>G (p.Val2336=) c.273C>G (p.Val91=) n.529C>G c.7188C>G (p.Val2396=) c.7122C>G (p.Val2374=) c.7185C>G (p.Val2395=) c.7182C>G (p.Val2394=) c.7128C>G (p.Val2376=) c.7098C>G (p.Val2366=) c.7053C>G (p.Val2351=) c.6648C>G (p.Val2216=) c.6006C>G (p.Val2002=) c.3516C>G (p.Val1172=) | ClinVar dbSNP ExAC gnomAD v4 |
10 | g.71798517C>T | CA470062099 | CDH23 | c.6993C>T (p.Val2331=) c.926C>T (n.926C>T) c.590C>T (n.590C>T) c.7008C>T (p.Val2336=) c.273C>T (p.Val91=) n.529C>T c.7188C>T (p.Val2396=) c.7122C>T (p.Val2374=) c.7185C>T (p.Val2395=) c.7182C>T (p.Val2394=) c.7128C>T (p.Val2376=) c.7098C>T (p.Val2366=) c.7053C>T (p.Val2351=) c.6648C>T (p.Val2216=) c.6006C>T (p.Val2002=) c.3516C>T (p.Val1172=) | |
10 | g.71798518A>C | CA377158220 | CDH23 | c.6994A>C (p.Thr2332Pro) c.927A>C (n.927A>C) c.591A>C (n.591A>C) c.7009A>C (p.Thr2337Pro) c.274A>C (p.Thr92Pro) n.530A>C c.7189A>C (p.Thr2397Pro) c.7123A>C (p.Thr2375Pro) c.7186A>C (p.Thr2396Pro) c.7183A>C (p.Thr2395Pro) c.7129A>C (p.Thr2377Pro) c.7099A>C (p.Thr2367Pro) c.7054A>C (p.Thr2352Pro) c.6649A>C (p.Thr2217Pro) c.6007A>C (p.Thr2003Pro) c.3517A>C (p.Thr1173Pro) | |
10 | g.71798518A>G | CA377158223 | CDH23 | c.6994A>G (p.Thr2332Ala) c.927A>G (n.927A>G) c.591A>G (n.591A>G) c.7009A>G (p.Thr2337Ala) c.274A>G (p.Thr92Ala) n.530A>G c.7189A>G (p.Thr2397Ala) c.7123A>G (p.Thr2375Ala) c.7186A>G (p.Thr2396Ala) c.7183A>G (p.Thr2395Ala) c.7129A>G (p.Thr2377Ala) c.7099A>G (p.Thr2367Ala) c.7054A>G (p.Thr2352Ala) c.6649A>G (p.Thr2217Ala) c.6007A>G (p.Thr2003Ala) c.3517A>G (p.Thr1173Ala) | |
10 | g.71798518A>T | CA377158226 | CDH23 | c.6994A>T (p.Thr2332Ser) c.927A>T (n.927A>T) c.591A>T (n.591A>T) c.7009A>T (p.Thr2337Ser) c.274A>T (p.Thr92Ser) n.530A>T c.7189A>T (p.Thr2397Ser) c.7123A>T (p.Thr2375Ser) c.7186A>T (p.Thr2396Ser) c.7183A>T (p.Thr2395Ser) c.7129A>T (p.Thr2377Ser) c.7099A>T (p.Thr2367Ser) c.7054A>T (p.Thr2352Ser) c.6649A>T (p.Thr2217Ser) c.6007A>T (p.Thr2003Ser) c.3517A>T (p.Thr1173Ser) | |
10 | g.71798519C>A | CA377158230 | CDH23 | c.6995C>A (p.Thr2332Asn) c.928C>A (n.928C>A) c.592C>A (n.592C>A) c.7010C>A (p.Thr2337Asn) c.275C>A (p.Thr92Asn) n.531C>A c.7190C>A (p.Thr2397Asn) c.7124C>A (p.Thr2375Asn) c.7187C>A (p.Thr2396Asn) c.7184C>A (p.Thr2395Asn) c.7130C>A (p.Thr2377Asn) c.7100C>A (p.Thr2367Asn) c.7055C>A (p.Thr2352Asn) c.6650C>A (p.Thr2217Asn) c.6008C>A (p.Thr2003Asn) c.3518C>A (p.Thr1173Asn) | |
10 | g.71798519C= | CA1918878482 | CDH23 | c.6995C= (p.Thr2332=) c.928C= (n.928C=) c.592C= (n.592C=) c.7010C= (p.Thr2337=) c.275C= (p.Thr92=) n.531C= c.7190C= (p.Thr2397=) c.7124C= (p.Thr2375=) c.7187C= (p.Thr2396=) c.7184C= (p.Thr2395=) c.7130C= (p.Thr2377=) c.7100C= (p.Thr2367=) c.7055C= (p.Thr2352=) c.6650C= (p.Thr2217=) c.6008C= (p.Thr2003=) c.3518C= (p.Thr1173=) | |
10 | g.71798519C>G | CA377158235 | CDH23 | c.6995C>G (p.Thr2332Ser) c.928C>G (n.928C>G) c.592C>G (n.592C>G) c.7010C>G (p.Thr2337Ser) c.275C>G (p.Thr92Ser) n.531C>G c.7190C>G (p.Thr2397Ser) c.7124C>G (p.Thr2375Ser) c.7187C>G (p.Thr2396Ser) c.7184C>G (p.Thr2395Ser) c.7130C>G (p.Thr2377Ser) c.7100C>G (p.Thr2367Ser) c.7055C>G (p.Thr2352Ser) c.6650C>G (p.Thr2217Ser) c.6008C>G (p.Thr2003Ser) c.3518C>G (p.Thr1173Ser) | |
10 | g.71798519C>T | CA377158241 | CDH23 | c.6995C>T (p.Thr2332Ile) c.928C>T (n.928C>T) c.592C>T (n.592C>T) c.7010C>T (p.Thr2337Ile) c.275C>T (p.Thr92Ile) n.531C>T c.7190C>T (p.Thr2397Ile) c.7124C>T (p.Thr2375Ile) c.7187C>T (p.Thr2396Ile) c.7184C>T (p.Thr2395Ile) c.7130C>T (p.Thr2377Ile) c.7100C>T (p.Thr2367Ile) c.7055C>T (p.Thr2352Ile) c.6650C>T (p.Thr2217Ile) c.6008C>T (p.Thr2003Ile) c.3518C>T (p.Thr1173Ile) | dbSNP |
10 | g.71798520C>A | CA470062100 | CDH23 | c.6996C>A (p.Thr2332=) c.929C>A (n.929C>A) c.593C>A (n.593C>A) c.7011C>A (p.Thr2337=) c.276C>A (p.Thr92=) n.532C>A c.7191C>A (p.Thr2397=) c.7125C>A (p.Thr2375=) c.7188C>A (p.Thr2396=) c.7185C>A (p.Thr2395=) c.7131C>A (p.Thr2377=) c.7101C>A (p.Thr2367=) c.7056C>A (p.Thr2352=) c.6651C>A (p.Thr2217=) c.6009C>A (p.Thr2003=) c.3519C>A (p.Thr1173=) | |
10 | g.71798520C>G | CA470062102 | CDH23 | c.6996C>G (p.Thr2332=) c.929C>G (n.929C>G) c.593C>G (n.593C>G) c.7011C>G (p.Thr2337=) c.276C>G (p.Thr92=) n.532C>G c.7191C>G (p.Thr2397=) c.7125C>G (p.Thr2375=) c.7188C>G (p.Thr2396=) c.7185C>G (p.Thr2395=) c.7131C>G (p.Thr2377=) c.7101C>G (p.Thr2367=) c.7056C>G (p.Thr2352=) c.6651C>G (p.Thr2217=) c.6009C>G (p.Thr2003=) c.3519C>G (p.Thr1173=) | |
10 | g.71798520C>T | CA470062103 | CDH23 | c.6996C>T (p.Thr2332=) c.929C>T (n.929C>T) c.593C>T (n.593C>T) c.7011C>T (p.Thr2337=) c.276C>T (p.Thr92=) n.532C>T c.7191C>T (p.Thr2397=) c.7125C>T (p.Thr2375=) c.7188C>T (p.Thr2396=) c.7185C>T (p.Thr2395=) c.7131C>T (p.Thr2377=) c.7101C>T (p.Thr2367=) c.7056C>T (p.Thr2352=) c.6651C>T (p.Thr2217=) c.6009C>T (p.Thr2003=) c.3519C>T (p.Thr1173=) | gnomAD v4 |
10 | g.71798521T>A | CA377158243 | CDH23 | c.6997T>A (p.Tyr2333Asn) c.930T>A (n.930T>A) c.594T>A (n.594T>A) c.7012T>A (p.Tyr2338Asn) c.277T>A (p.Tyr93Asn) n.533T>A c.7192T>A (p.Tyr2398Asn) c.7126T>A (p.Tyr2376Asn) c.7189T>A (p.Tyr2397Asn) c.7186T>A (p.Tyr2396Asn) c.7132T>A (p.Tyr2378Asn) c.7102T>A (p.Tyr2368Asn) c.7057T>A (p.Tyr2353Asn) c.6652T>A (p.Tyr2218Asn) c.6010T>A (p.Tyr2004Asn) c.3520T>A (p.Tyr1174Asn) | |
10 | g.71798521T>C | CA209469662 | CDH23 | c.6997T>C (p.Tyr2333His) c.930T>C (n.930T>C) c.594T>C (n.594T>C) c.7012T>C (p.Tyr2338His) c.277T>C (p.Tyr93His) n.533T>C c.7192T>C (p.Tyr2398His) c.7126T>C (p.Tyr2376His) c.7189T>C (p.Tyr2397His) c.7186T>C (p.Tyr2396His) c.7132T>C (p.Tyr2378His) c.7102T>C (p.Tyr2368His) c.7057T>C (p.Tyr2353His) c.6652T>C (p.Tyr2218His) c.6010T>C (p.Tyr2004His) c.3520T>C (p.Tyr1174His) | dbSNP |
10 | g.71798521T>G | CA377158247 | CDH23 | c.6997T>G (p.Tyr2333Asp) c.930T>G (n.930T>G) c.594T>G (n.594T>G) c.7012T>G (p.Tyr2338Asp) c.277T>G (p.Tyr93Asp) n.533T>G c.7192T>G (p.Tyr2398Asp) c.7126T>G (p.Tyr2376Asp) c.7189T>G (p.Tyr2397Asp) c.7186T>G (p.Tyr2396Asp) c.7132T>G (p.Tyr2378Asp) c.7102T>G (p.Tyr2368Asp) c.7057T>G (p.Tyr2353Asp) c.6652T>G (p.Tyr2218Asp) c.6010T>G (p.Tyr2004Asp) c.3520T>G (p.Tyr1174Asp) | |
10 | g.71798521T= | CA1918878483 | CDH23 | c.6997T= (p.Tyr2333=) c.930T= (n.930T=) c.594T= (n.594T=) c.7012T= (p.Tyr2338=) c.277T= (p.Tyr93=) n.533T= c.7192T= (p.Tyr2398=) c.7126T= (p.Tyr2376=) c.7189T= (p.Tyr2397=) c.7186T= (p.Tyr2396=) c.7132T= (p.Tyr2378=) c.7102T= (p.Tyr2368=) c.7057T= (p.Tyr2353=) c.6652T= (p.Tyr2218=) c.6010T= (p.Tyr2004=) c.3520T= (p.Tyr1174=) | |
10 | g.71798522A>C | CA377158249 | CDH23 | c.6998A>C (p.Tyr2333Ser) c.931A>C (n.931A>C) c.595A>C (n.595A>C) c.7013A>C (p.Tyr2338Ser) c.278A>C (p.Tyr93Ser) n.534A>C c.7193A>C (p.Tyr2398Ser) c.7127A>C (p.Tyr2376Ser) c.7190A>C (p.Tyr2397Ser) c.7187A>C (p.Tyr2396Ser) c.7133A>C (p.Tyr2378Ser) c.7103A>C (p.Tyr2368Ser) c.7058A>C (p.Tyr2353Ser) c.6653A>C (p.Tyr2218Ser) c.6011A>C (p.Tyr2004Ser) c.3521A>C (p.Tyr1174Ser) | |
10 | g.71798522A>G | CA377158250 | CDH23 | c.6998A>G (p.Tyr2333Cys) c.931A>G (n.931A>G) c.595A>G (n.595A>G) c.7013A>G (p.Tyr2338Cys) c.278A>G (p.Tyr93Cys) n.534A>G c.7193A>G (p.Tyr2398Cys) c.7127A>G (p.Tyr2376Cys) c.7190A>G (p.Tyr2397Cys) c.7187A>G (p.Tyr2396Cys) c.7133A>G (p.Tyr2378Cys) c.7103A>G (p.Tyr2368Cys) c.7058A>G (p.Tyr2353Cys) c.6653A>G (p.Tyr2218Cys) c.6011A>G (p.Tyr2004Cys) c.3521A>G (p.Tyr1174Cys) | |
10 | g.71798522A>T | CA377158251 | CDH23 | c.6998A>T (p.Tyr2333Phe) c.931A>T (n.931A>T) c.595A>T (n.595A>T) c.7013A>T (p.Tyr2338Phe) c.278A>T (p.Tyr93Phe) n.534A>T c.7193A>T (p.Tyr2398Phe) c.7127A>T (p.Tyr2376Phe) c.7190A>T (p.Tyr2397Phe) c.7187A>T (p.Tyr2396Phe) c.7133A>T (p.Tyr2378Phe) c.7103A>T (p.Tyr2368Phe) c.7058A>T (p.Tyr2353Phe) c.6653A>T (p.Tyr2218Phe) c.6011A>T (p.Tyr2004Phe) c.3521A>T (p.Tyr1174Phe) | |
10 | g.71798523C>A | CA377158252 | CDH23 | c.6999C>A (p.Tyr2333Ter) c.932C>A (n.932C>A) c.596C>A (n.596C>A) c.7014C>A (p.Tyr2338Ter) c.279C>A (p.Tyr93Ter) n.535C>A c.7194C>A (p.Tyr2398Ter) c.7128C>A (p.Tyr2376Ter) c.7191C>A (p.Tyr2397Ter) c.7188C>A (p.Tyr2396Ter) c.7134C>A (p.Tyr2378Ter) c.7104C>A (p.Tyr2368Ter) c.7059C>A (p.Tyr2353Ter) c.6654C>A (p.Tyr2218Ter) c.6012C>A (p.Tyr2004Ter) c.3522C>A (p.Tyr1174Ter) | |
10 | g.71798523C= | CA1918878484 | CDH23 | c.6999C= (p.Tyr2333=) c.932C= (n.932C=) c.596C= (n.596C=) c.7014C= (p.Tyr2338=) c.279C= (p.Tyr93=) n.535C= c.7194C= (p.Tyr2398=) c.7128C= (p.Tyr2376=) c.7191C= (p.Tyr2397=) c.7188C= (p.Tyr2396=) c.7134C= (p.Tyr2378=) c.7104C= (p.Tyr2368=) c.7059C= (p.Tyr2353=) c.6654C= (p.Tyr2218=) c.6012C= (p.Tyr2004=) c.3522C= (p.Tyr1174=) | |
10 | g.71798523C>G | CA377158253 | CDH23 | c.6999C>G (p.Tyr2333Ter) c.932C>G (n.932C>G) c.596C>G (n.596C>G) c.7014C>G (p.Tyr2338Ter) c.279C>G (p.Tyr93Ter) n.535C>G c.7194C>G (p.Tyr2398Ter) c.7128C>G (p.Tyr2376Ter) c.7191C>G (p.Tyr2397Ter) c.7188C>G (p.Tyr2396Ter) c.7134C>G (p.Tyr2378Ter) c.7104C>G (p.Tyr2368Ter) c.7059C>G (p.Tyr2353Ter) c.6654C>G (p.Tyr2218Ter) c.6012C>G (p.Tyr2004Ter) c.3522C>G (p.Tyr1174Ter) | |
10 | g.71798523C>T | CA209469663 | CDH23 | c.6999C>T (p.Tyr2333=) c.932C>T (n.932C>T) c.596C>T (n.596C>T) c.7014C>T (p.Tyr2338=) c.279C>T (p.Tyr93=) n.535C>T c.7194C>T (p.Tyr2398=) c.7128C>T (p.Tyr2376=) c.7191C>T (p.Tyr2397=) c.7188C>T (p.Tyr2396=) c.7134C>T (p.Tyr2378=) c.7104C>T (p.Tyr2368=) c.7059C>T (p.Tyr2353=) c.6654C>T (p.Tyr2218=) c.6012C>T (p.Tyr2004=) c.3522C>T (p.Tyr1174=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.71798524A>C | CA377158255 | CDH23 | c.7000A>C (p.Thr2334Pro) c.933A>C (n.933A>C) c.597A>C (n.597A>C) c.7015A>C (p.Thr2339Pro) c.280A>C (p.Thr94Pro) n.536A>C c.7195A>C (p.Thr2399Pro) c.7129A>C (p.Thr2377Pro) c.7192A>C (p.Thr2398Pro) c.7189A>C (p.Thr2397Pro) c.7135A>C (p.Thr2379Pro) c.7105A>C (p.Thr2369Pro) c.7060A>C (p.Thr2354Pro) c.6655A>C (p.Thr2219Pro) c.6013A>C (p.Thr2005Pro) c.3523A>C (p.Thr1175Pro) | |
10 | g.71798524A>G | CA377158263 | CDH23 | c.7000A>G (p.Thr2334Ala) c.933A>G (n.933A>G) c.597A>G (n.597A>G) c.7015A>G (p.Thr2339Ala) c.280A>G (p.Thr94Ala) n.536A>G c.7195A>G (p.Thr2399Ala) c.7129A>G (p.Thr2377Ala) c.7192A>G (p.Thr2398Ala) c.7189A>G (p.Thr2397Ala) c.7135A>G (p.Thr2379Ala) c.7105A>G (p.Thr2369Ala) c.7060A>G (p.Thr2354Ala) c.6655A>G (p.Thr2219Ala) c.6013A>G (p.Thr2005Ala) c.3523A>G (p.Thr1175Ala) | |
10 | g.71798524A>T | CA377158266 | CDH23 | c.7000A>T (p.Thr2334Ser) c.933A>T (n.933A>T) c.597A>T (n.597A>T) c.7015A>T (p.Thr2339Ser) c.280A>T (p.Thr94Ser) n.536A>T c.7195A>T (p.Thr2399Ser) c.7129A>T (p.Thr2377Ser) c.7192A>T (p.Thr2398Ser) c.7189A>T (p.Thr2397Ser) c.7135A>T (p.Thr2379Ser) c.7105A>T (p.Thr2369Ser) c.7060A>T (p.Thr2354Ser) c.6655A>T (p.Thr2219Ser) c.6013A>T (p.Thr2005Ser) c.3523A>T (p.Thr1175Ser) | |
10 | g.71798524_71798525delinsAC | CA1918878485 | CDH23 | c.7000_7001delinsAC (p.Thr2334=) c.933_934delinsAC (n.933_934delinsAC) c.597_598delinsAC (n.597_598delinsAC) c.7015_7016delinsAC (p.Thr2339=) c.280_281delinsAC (p.Thr94=) n.536_537delinsAC c.7195_7196delinsAC (p.Thr2399=) c.7129_7130delinsAC (p.Thr2377=) c.7192_7193delinsAC (p.Thr2398=) c.7189_7190delinsAC (p.Thr2397=) c.7135_7136delinsAC (p.Thr2379=) c.7105_7106delinsAC (p.Thr2369=) c.7060_7061delinsAC (p.Thr2354=) c.6655_6656delinsAC (p.Thr2219=) c.6013_6014delinsAC (p.Thr2005=) c.3523_3524delinsAC (p.Thr1175=) | |
10 | g.71798525C>A | CA377158269 | CDH23 | c.7001C>A (p.Thr2334Asn) c.934C>A (n.934C>A) c.598C>A (n.598C>A) c.7016C>A (p.Thr2339Asn) c.281C>A (p.Thr94Asn) n.537C>A c.7196C>A (p.Thr2399Asn) c.7130C>A (p.Thr2377Asn) c.7193C>A (p.Thr2398Asn) c.7190C>A (p.Thr2397Asn) c.7136C>A (p.Thr2379Asn) c.7106C>A (p.Thr2369Asn) c.7061C>A (p.Thr2354Asn) c.6656C>A (p.Thr2219Asn) c.6014C>A (p.Thr2005Asn) c.3524C>A (p.Thr1175Asn) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71798525C= | CA1918878486 | CDH23 | c.7001C= (p.Thr2334=) c.934C= (n.934C=) c.598C= (n.598C=) c.7016C= (p.Thr2339=) c.281C= (p.Thr94=) n.537C= c.7196C= (p.Thr2399=) c.7130C= (p.Thr2377=) c.7193C= (p.Thr2398=) c.7190C= (p.Thr2397=) c.7136C= (p.Thr2379=) c.7106C= (p.Thr2369=) c.7061C= (p.Thr2354=) c.6656C= (p.Thr2219=) c.6014C= (p.Thr2005=) c.3524C= (p.Thr1175=) | |
10 | g.71798525C>G | CA377158272 | CDH23 | c.7001C>G (p.Thr2334Ser) c.934C>G (n.934C>G) c.598C>G (n.598C>G) c.7016C>G (p.Thr2339Ser) c.281C>G (p.Thr94Ser) n.537C>G c.7196C>G (p.Thr2399Ser) c.7130C>G (p.Thr2377Ser) c.7193C>G (p.Thr2398Ser) c.7190C>G (p.Thr2397Ser) c.7136C>G (p.Thr2379Ser) c.7106C>G (p.Thr2369Ser) c.7061C>G (p.Thr2354Ser) c.6656C>G (p.Thr2219Ser) c.6014C>G (p.Thr2005Ser) c.3524C>G (p.Thr1175Ser) | |
10 | g.71798525C>T | CA377158273 | CDH23 | c.7001C>T (p.Thr2334Ile) c.934C>T (n.934C>T) c.598C>T (n.598C>T) c.7016C>T (p.Thr2339Ile) c.281C>T (p.Thr94Ile) n.537C>T c.7196C>T (p.Thr2399Ile) c.7130C>T (p.Thr2377Ile) c.7193C>T (p.Thr2398Ile) c.7190C>T (p.Thr2397Ile) c.7136C>T (p.Thr2379Ile) c.7106C>T (p.Thr2369Ile) c.7061C>T (p.Thr2354Ile) c.6656C>T (p.Thr2219Ile) c.6014C>T (p.Thr2005Ile) c.3524C>T (p.Thr1175Ile) | ClinVar dbSNP gnomAD v4 |
10 | g.71798527dup | CA2839192542 | CDH23 | c.7003dup (p.Leu2335ProfsTer?) c.936dup (n.936dup) c.600dup (n.600dup) c.7018dup (p.Leu2340ProfsTer?) c.283dup (p.Leu95ProfsTer?) n.539dup c.7198dup (p.Leu2400ProfsTer?) c.7132dup (p.Leu2378ProfsTer?) c.7195dup (p.Leu2399ProfsTer?) c.7192dup (p.Leu2398ProfsTer?) c.7138dup (p.Leu2380ProfsTer?) c.7108dup (p.Leu2370ProfsTer?) c.7063dup (p.Leu2355ProfsTer?) c.6658dup (p.Leu2220ProfsTer?) c.6016dup (p.Leu2006ProfsTer?) c.3526dup (p.Leu1176ProfsTer?) | |
10 | g.71798527del | CA594706180 | CDH23 | c.7003del (p.Leu2335CysfsTer?) c.936del (n.936del) c.600del (n.600del) c.7018del (p.Leu2340CysfsTer?) c.283del (p.Leu95CysfsTer?) n.539del c.7198del (p.Leu2400CysfsTer?) c.7132del (p.Leu2378CysfsTer?) c.7195del (p.Leu2399CysfsTer?) c.7192del (p.Leu2398CysfsTer?) c.7138del (p.Leu2380CysfsTer?) c.7108del (p.Leu2370CysfsTer?) c.7063del (p.Leu2355CysfsTer?) c.6658del (p.Leu2220CysfsTer?) c.6016del (p.Leu2006CysfsTer?) c.3526del (p.Leu1176CysfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71798526C>A | CA470062110 | CDH23 | c.7002C>A (p.Thr2334=) c.935C>A (n.935C>A) c.599C>A (n.599C>A) c.7017C>A (p.Thr2339=) c.282C>A (p.Thr94=) n.538C>A c.7197C>A (p.Thr2399=) c.7131C>A (p.Thr2377=) c.7194C>A (p.Thr2398=) c.7191C>A (p.Thr2397=) c.7137C>A (p.Thr2379=) c.7107C>A (p.Thr2369=) c.7062C>A (p.Thr2354=) c.6657C>A (p.Thr2219=) c.6015C>A (p.Thr2005=) c.3525C>A (p.Thr1175=) | dbSNP |
10 | g.71798526C= | CA1918878487 | CDH23 | c.7002C= (p.Thr2334=) c.935C= (n.935C=) c.599C= (n.599C=) c.7017C= (p.Thr2339=) c.282C= (p.Thr94=) n.538C= c.7197C= (p.Thr2399=) c.7131C= (p.Thr2377=) c.7194C= (p.Thr2398=) c.7191C= (p.Thr2397=) c.7137C= (p.Thr2379=) c.7107C= (p.Thr2369=) c.7062C= (p.Thr2354=) c.6657C= (p.Thr2219=) c.6015C= (p.Thr2005=) c.3525C= (p.Thr1175=) | |
10 | g.71798526C>G | CA470062108 | CDH23 | c.7002C>G (p.Thr2334=) c.935C>G (n.935C>G) c.599C>G (n.599C>G) c.7017C>G (p.Thr2339=) c.282C>G (p.Thr94=) n.538C>G c.7197C>G (p.Thr2399=) c.7131C>G (p.Thr2377=) c.7194C>G (p.Thr2398=) c.7191C>G (p.Thr2397=) c.7137C>G (p.Thr2379=) c.7107C>G (p.Thr2369=) c.7062C>G (p.Thr2354=) c.6657C>G (p.Thr2219=) c.6015C>G (p.Thr2005=) c.3525C>G (p.Thr1175=) | |
10 | g.71798526C>T | CA470062107 | CDH23 | c.7002C>T (p.Thr2334=) c.935C>T (n.935C>T) c.599C>T (n.599C>T) c.7017C>T (p.Thr2339=) c.282C>T (p.Thr94=) n.538C>T c.7197C>T (p.Thr2399=) c.7131C>T (p.Thr2377=) c.7194C>T (p.Thr2398=) c.7191C>T (p.Thr2397=) c.7137C>T (p.Thr2379=) c.7107C>T (p.Thr2369=) c.7062C>T (p.Thr2354=) c.6657C>T (p.Thr2219=) c.6015C>T (p.Thr2005=) c.3525C>T (p.Thr1175=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71798527C>A | CA377158274 | CDH23 | c.7003C>A (p.Leu2335Met) c.936C>A (n.936C>A) c.600C>A (n.600C>A) c.7018C>A (p.Leu2340Met) c.283C>A (p.Leu95Met) n.539C>A c.7198C>A (p.Leu2400Met) c.7132C>A (p.Leu2378Met) c.7195C>A (p.Leu2399Met) c.7192C>A (p.Leu2398Met) c.7138C>A (p.Leu2380Met) c.7108C>A (p.Leu2370Met) c.7063C>A (p.Leu2355Met) c.6658C>A (p.Leu2220Met) c.6016C>A (p.Leu2006Met) c.3526C>A (p.Leu1176Met) | dbSNP |
10 | g.71798527C= | CA1918878488 | CDH23 | c.7003C= (p.Leu2335=) c.936C= (n.936C=) c.600C= (n.600C=) c.7018C= (p.Leu2340=) c.283C= (p.Leu95=) n.539C= c.7198C= (p.Leu2400=) c.7132C= (p.Leu2378=) c.7195C= (p.Leu2399=) c.7192C= (p.Leu2398=) c.7138C= (p.Leu2380=) c.7108C= (p.Leu2370=) c.7063C= (p.Leu2355=) c.6658C= (p.Leu2220=) c.6016C= (p.Leu2006=) c.3526C= (p.Leu1176=) | |
10 | g.71798527C>G | CA377158275 | CDH23 | c.7003C>G (p.Leu2335Val) c.936C>G (n.936C>G) c.600C>G (n.600C>G) c.7018C>G (p.Leu2340Val) c.283C>G (p.Leu95Val) n.539C>G c.7198C>G (p.Leu2400Val) c.7132C>G (p.Leu2378Val) c.7195C>G (p.Leu2399Val) c.7192C>G (p.Leu2398Val) c.7138C>G (p.Leu2380Val) c.7108C>G (p.Leu2370Val) c.7063C>G (p.Leu2355Val) c.6658C>G (p.Leu2220Val) c.6016C>G (p.Leu2006Val) c.3526C>G (p.Leu1176Val) | |
10 | g.71798527C>T | CA209469664 | CDH23 | c.7003C>T (p.Leu2335=) c.936C>T (n.936C>T) c.600C>T (n.600C>T) c.7018C>T (p.Leu2340=) c.283C>T (p.Leu95=) n.539C>T c.7198C>T (p.Leu2400=) c.7132C>T (p.Leu2378=) c.7195C>T (p.Leu2399=) c.7192C>T (p.Leu2398=) c.7138C>T (p.Leu2380=) c.7108C>T (p.Leu2370=) c.7063C>T (p.Leu2355=) c.6658C>T (p.Leu2220=) c.6016C>T (p.Leu2006=) c.3526C>T (p.Leu1176=) | ClinVar dbSNP |
10 | g.71798528T>A | CA377158278 | CDH23 | c.7004T>A (p.Leu2335Gln) c.937T>A (n.937T>A) c.601T>A (n.601T>A) c.7019T>A (p.Leu2340Gln) c.284T>A (p.Leu95Gln) n.540T>A c.7199T>A (p.Leu2400Gln) c.7133T>A (p.Leu2378Gln) c.7196T>A (p.Leu2399Gln) c.7193T>A (p.Leu2398Gln) c.7139T>A (p.Leu2380Gln) c.7109T>A (p.Leu2370Gln) c.7064T>A (p.Leu2355Gln) c.6659T>A (p.Leu2220Gln) c.6017T>A (p.Leu2006Gln) c.3527T>A (p.Leu1176Gln) | |
10 | g.71798528T>C | CA377158280 | CDH23 | c.7004T>C (p.Leu2335Pro) c.937T>C (n.937T>C) c.601T>C (n.601T>C) c.7019T>C (p.Leu2340Pro) c.284T>C (p.Leu95Pro) n.540T>C c.7199T>C (p.Leu2400Pro) c.7133T>C (p.Leu2378Pro) c.7196T>C (p.Leu2399Pro) c.7193T>C (p.Leu2398Pro) c.7139T>C (p.Leu2380Pro) c.7109T>C (p.Leu2370Pro) c.7064T>C (p.Leu2355Pro) c.6659T>C (p.Leu2220Pro) c.6017T>C (p.Leu2006Pro) c.3527T>C (p.Leu1176Pro) | |
10 | g.71798528T>G | CA377158282 | CDH23 | c.7004T>G (p.Leu2335Arg) c.937T>G (n.937T>G) c.601T>G (n.601T>G) c.7019T>G (p.Leu2340Arg) c.284T>G (p.Leu95Arg) n.540T>G c.7199T>G (p.Leu2400Arg) c.7133T>G (p.Leu2378Arg) c.7196T>G (p.Leu2399Arg) c.7193T>G (p.Leu2398Arg) c.7139T>G (p.Leu2380Arg) c.7109T>G (p.Leu2370Arg) c.7064T>G (p.Leu2355Arg) c.6659T>G (p.Leu2220Arg) c.6017T>G (p.Leu2006Arg) c.3527T>G (p.Leu1176Arg) | |
10 | g.71798528dup | CA2838214670 | CDH23 | c.7004dup (p.Leu2336AlafsTer?) c.937dup (n.937dup) c.601dup (n.601dup) c.7019dup (p.Leu2341AlafsTer?) c.284dup (p.Leu96AlafsTer?) n.540dup c.7199dup (p.Leu2401AlafsTer?) c.7133dup (p.Leu2379AlafsTer?) c.7196dup (p.Leu2400AlafsTer?) c.7193dup (p.Leu2399AlafsTer?) c.7139dup (p.Leu2381AlafsTer?) c.7109dup (p.Leu2371AlafsTer?) c.7064dup (p.Leu2356AlafsTer?) c.6659dup (p.Leu2221AlafsTer?) c.6017dup (p.Leu2007AlafsTer?) c.3527dup (p.Leu1177AlafsTer?) | |
10 | g.71798529G>A | CA470062111 | CDH23 | c.7005G>A (p.Leu2335=) c.938G>A (n.938G>A) c.602G>A (n.602G>A) c.7020G>A (p.Leu2340=) c.285G>A (p.Leu95=) n.541G>A c.7200G>A (p.Leu2400=) c.7134G>A (p.Leu2378=) c.7197G>A (p.Leu2399=) c.7194G>A (p.Leu2398=) c.7140G>A (p.Leu2380=) c.7110G>A (p.Leu2370=) c.7065G>A (p.Leu2355=) c.6660G>A (p.Leu2220=) c.6018G>A (p.Leu2006=) c.3528G>A (p.Leu1176=) | ClinVar dbSNP gnomAD v4 |
10 | g.71798529G>C | CA470062112 | CDH23 | c.7005G>C (p.Leu2335=) c.938G>C (n.938G>C) c.602G>C (n.602G>C) c.7020G>C (p.Leu2340=) c.285G>C (p.Leu95=) n.541G>C c.7200G>C (p.Leu2400=) c.7134G>C (p.Leu2378=) c.7197G>C (p.Leu2399=) c.7194G>C (p.Leu2398=) c.7140G>C (p.Leu2380=) c.7110G>C (p.Leu2370=) c.7065G>C (p.Leu2355=) c.6660G>C (p.Leu2220=) c.6018G>C (p.Leu2006=) c.3528G>C (p.Leu1176=) | gnomAD v4 |
10 | g.71798529G>T | CA470062113 | CDH23 | c.7005G>T (p.Leu2335=) c.938G>T (n.938G>T) c.602G>T (n.602G>T) c.7020G>T (p.Leu2340=) c.285G>T (p.Leu95=) n.541G>T c.7200G>T (p.Leu2400=) c.7134G>T (p.Leu2378=) c.7197G>T (p.Leu2399=) c.7194G>T (p.Leu2398=) c.7140G>T (p.Leu2380=) c.7110G>T (p.Leu2370=) c.7065G>T (p.Leu2355=) c.6660G>T (p.Leu2220=) c.6018G>T (p.Leu2006=) c.3528G>T (p.Leu1176=) | |
10 | g.71798530C>A | CA377158284 | CDH23 | c.7006C>A (p.Leu2336Met) c.939C>A (n.939C>A) c.603C>A (n.603C>A) c.7021C>A (p.Leu2341Met) c.286C>A (p.Leu96Met) n.542C>A c.7201C>A (p.Leu2401Met) c.7135C>A (p.Leu2379Met) c.7198C>A (p.Leu2400Met) c.7195C>A (p.Leu2399Met) c.7141C>A (p.Leu2381Met) c.7111C>A (p.Leu2371Met) c.7066C>A (p.Leu2356Met) c.6661C>A (p.Leu2221Met) c.6019C>A (p.Leu2007Met) c.3529C>A (p.Leu1177Met) | ClinVar dbSNP gnomAD v4 |
10 | g.71798530C= | CA1918878489 | CDH23 | c.7006C= (p.Leu2336=) c.939C= (n.939C=) c.603C= (n.603C=) c.7021C= (p.Leu2341=) c.286C= (p.Leu96=) n.542C= c.7201C= (p.Leu2401=) c.7135C= (p.Leu2379=) c.7198C= (p.Leu2400=) c.7195C= (p.Leu2399=) c.7141C= (p.Leu2381=) c.7111C= (p.Leu2371=) c.7066C= (p.Leu2356=) c.6661C= (p.Leu2221=) c.6019C= (p.Leu2007=) c.3529C= (p.Leu1177=) | |
10 | g.71798530C>G | CA377158283 | CDH23 | c.7006C>G (p.Leu2336Val) c.939C>G (n.939C>G) c.603C>G (n.603C>G) c.7021C>G (p.Leu2341Val) c.286C>G (p.Leu96Val) n.542C>G c.7201C>G (p.Leu2401Val) c.7135C>G (p.Leu2379Val) c.7198C>G (p.Leu2400Val) c.7195C>G (p.Leu2399Val) c.7141C>G (p.Leu2381Val) c.7111C>G (p.Leu2371Val) c.7066C>G (p.Leu2356Val) c.6661C>G (p.Leu2221Val) c.6019C>G (p.Leu2007Val) c.3529C>G (p.Leu1177Val) | gnomAD v4 |
10 | g.71798530C>T | CA470062114 | CDH23 | c.7006C>T (p.Leu2336=) c.939C>T (n.939C>T) c.603C>T (n.603C>T) c.7021C>T (p.Leu2341=) c.286C>T (p.Leu96=) n.542C>T c.7201C>T (p.Leu2401=) c.7135C>T (p.Leu2379=) c.7198C>T (p.Leu2400=) c.7195C>T (p.Leu2399=) c.7141C>T (p.Leu2381=) c.7111C>T (p.Leu2371=) c.7066C>T (p.Leu2356=) c.6661C>T (p.Leu2221=) c.6019C>T (p.Leu2007=) c.3529C>T (p.Leu1177=) | dbSNP |
10 | g.71798531T>A | CA377158294 | CDH23 | c.7007T>A (p.Leu2336Gln) c.940T>A (n.940T>A) c.604T>A (n.604T>A) c.7022T>A (p.Leu2341Gln) c.287T>A (p.Leu96Gln) n.543T>A c.7202T>A (p.Leu2401Gln) c.7136T>A (p.Leu2379Gln) c.7199T>A (p.Leu2400Gln) c.7196T>A (p.Leu2399Gln) c.7142T>A (p.Leu2381Gln) c.7112T>A (p.Leu2371Gln) c.7067T>A (p.Leu2356Gln) c.6662T>A (p.Leu2221Gln) c.6020T>A (p.Leu2007Gln) c.3530T>A (p.Leu1177Gln) | |
10 | g.71798531T>C | CA377158300 | CDH23 | c.7007T>C (p.Leu2336Pro) c.940T>C (n.940T>C) c.604T>C (n.604T>C) c.7022T>C (p.Leu2341Pro) c.287T>C (p.Leu96Pro) n.543T>C c.7202T>C (p.Leu2401Pro) c.7136T>C (p.Leu2379Pro) c.7199T>C (p.Leu2400Pro) c.7196T>C (p.Leu2399Pro) c.7142T>C (p.Leu2381Pro) c.7112T>C (p.Leu2371Pro) c.7067T>C (p.Leu2356Pro) c.6662T>C (p.Leu2221Pro) c.6020T>C (p.Leu2007Pro) c.3530T>C (p.Leu1177Pro) | dbSNP |
10 | g.71798531T>G | CA377158296 | CDH23 | c.7007T>G (p.Leu2336Arg) c.940T>G (n.940T>G) c.604T>G (n.604T>G) c.7022T>G (p.Leu2341Arg) c.287T>G (p.Leu96Arg) n.543T>G c.7202T>G (p.Leu2401Arg) c.7136T>G (p.Leu2379Arg) c.7199T>G (p.Leu2400Arg) c.7196T>G (p.Leu2399Arg) c.7142T>G (p.Leu2381Arg) c.7112T>G (p.Leu2371Arg) c.7067T>G (p.Leu2356Arg) c.6662T>G (p.Leu2221Arg) c.6020T>G (p.Leu2007Arg) c.3530T>G (p.Leu1177Arg) | |
10 | g.71798531T= | CA1918878490 | CDH23 | c.7007T= (p.Leu2336=) c.940T= (n.940T=) c.604T= (n.604T=) c.7022T= (p.Leu2341=) c.287T= (p.Leu96=) n.543T= c.7202T= (p.Leu2401=) c.7136T= (p.Leu2379=) c.7199T= (p.Leu2400=) c.7196T= (p.Leu2399=) c.7142T= (p.Leu2381=) c.7112T= (p.Leu2371=) c.7067T= (p.Leu2356=) c.6662T= (p.Leu2221=) c.6020T= (p.Leu2007=) c.3530T= (p.Leu1177=) | |
10 | g.71798532G>A | CA470062117 | CDH23 | c.7008G>A (p.Leu2336=) c.941G>A (n.941G>A) c.605G>A (n.605G>A) c.7023G>A (p.Leu2341=) c.288G>A (p.Leu96=) n.544G>A c.7203G>A (p.Leu2401=) c.7137G>A (p.Leu2379=) c.7200G>A (p.Leu2400=) c.7197G>A (p.Leu2399=) c.7143G>A (p.Leu2381=) c.7113G>A (p.Leu2371=) c.7068G>A (p.Leu2356=) c.6663G>A (p.Leu2221=) c.6021G>A (p.Leu2007=) c.3531G>A (p.Leu1177=) | |
10 | g.71798532G>C | CA470062119 | CDH23 | c.7008G>C (p.Leu2336=) c.941G>C (n.941G>C) c.605G>C (n.605G>C) c.7023G>C (p.Leu2341=) c.288G>C (p.Leu96=) n.544G>C c.7203G>C (p.Leu2401=) c.7137G>C (p.Leu2379=) c.7200G>C (p.Leu2400=) c.7197G>C (p.Leu2399=) c.7143G>C (p.Leu2381=) c.7113G>C (p.Leu2371=) c.7068G>C (p.Leu2356=) c.6663G>C (p.Leu2221=) c.6021G>C (p.Leu2007=) c.3531G>C (p.Leu1177=) | gnomAD v4 |
10 | g.71798532G>T | CA470062118 | CDH23 | c.7008G>T (p.Leu2336=) c.941G>T (n.941G>T) c.605G>T (n.605G>T) c.7023G>T (p.Leu2341=) c.288G>T (p.Leu96=) n.544G>T c.7203G>T (p.Leu2401=) c.7137G>T (p.Leu2379=) c.7200G>T (p.Leu2400=) c.7197G>T (p.Leu2399=) c.7143G>T (p.Leu2381=) c.7113G>T (p.Leu2371=) c.7068G>T (p.Leu2356=) c.6663G>T (p.Leu2221=) c.6021G>T (p.Leu2007=) c.3531G>T (p.Leu1177=) | COSMIC |
10 | g.71798533del | CA2722286378 | CDH23 | c.7009del (p.Asp2337ThrfsTer?) c.942del (n.942del) c.606del (n.606del) c.7024del (p.Asp2342ThrfsTer?) c.289del (p.Asp97ThrfsTer?) n.545del c.7204del (p.Asp2402ThrfsTer?) c.7138del (p.Asp2380ThrfsTer?) c.7201del (p.Asp2401ThrfsTer?) c.7198del (p.Asp2400ThrfsTer?) c.7144del (p.Asp2382ThrfsTer?) c.7114del (p.Asp2372ThrfsTer?) c.7069del (p.Asp2357ThrfsTer?) c.6664del (p.Asp2222ThrfsTer?) c.6022del (p.Asp2008ThrfsTer?) c.3532del (p.Asp1178ThrfsTer?) | dbSNP |
10 | g.71798533G>A | CA377158303 | CDH23 | c.7009G>A (p.Asp2337Asn) c.942G>A (n.942G>A) c.606G>A (n.606G>A) c.7024G>A (p.Asp2342Asn) c.289G>A (p.Asp97Asn) n.545G>A c.7204G>A (p.Asp2402Asn) c.7138G>A (p.Asp2380Asn) c.7201G>A (p.Asp2401Asn) c.7198G>A (p.Asp2400Asn) c.7144G>A (p.Asp2382Asn) c.7114G>A (p.Asp2372Asn) c.7069G>A (p.Asp2357Asn) c.6664G>A (p.Asp2222Asn) c.6022G>A (p.Asp2008Asn) c.3532G>A (p.Asp1178Asn) | |
10 | g.71798533G>C | CA377158305 | CDH23 | c.7009G>C (p.Asp2337His) c.942G>C (n.942G>C) c.606G>C (n.606G>C) c.7024G>C (p.Asp2342His) c.289G>C (p.Asp97His) n.545G>C c.7204G>C (p.Asp2402His) c.7138G>C (p.Asp2380His) c.7201G>C (p.Asp2401His) c.7198G>C (p.Asp2400His) c.7144G>C (p.Asp2382His) c.7114G>C (p.Asp2372His) c.7069G>C (p.Asp2357His) c.6664G>C (p.Asp2222His) c.6022G>C (p.Asp2008His) c.3532G>C (p.Asp1178His) | |
10 | g.71798533G= | CA1918878491 | CDH23 | c.7009G= (p.Asp2337=) c.942G= (n.942G=) c.606G= (n.606G=) c.7024G= (p.Asp2342=) c.289G= (p.Asp97=) n.545G= c.7204G= (p.Asp2402=) c.7138G= (p.Asp2380=) c.7201G= (p.Asp2401=) c.7198G= (p.Asp2400=) c.7144G= (p.Asp2382=) c.7114G= (p.Asp2372=) c.7069G= (p.Asp2357=) c.6664G= (p.Asp2222=) c.6022G= (p.Asp2008=) c.3532G= (p.Asp1178=) | |
10 | g.71798533G>T | CA377158308 | CDH23 | c.7009G>T (p.Asp2337Tyr) c.942G>T (n.942G>T) c.606G>T (n.606G>T) c.7024G>T (p.Asp2342Tyr) c.289G>T (p.Asp97Tyr) n.545G>T c.7204G>T (p.Asp2402Tyr) c.7138G>T (p.Asp2380Tyr) c.7201G>T (p.Asp2401Tyr) c.7198G>T (p.Asp2400Tyr) c.7144G>T (p.Asp2382Tyr) c.7114G>T (p.Asp2372Tyr) c.7069G>T (p.Asp2357Tyr) c.6664G>T (p.Asp2222Tyr) c.6022G>T (p.Asp2008Tyr) c.3532G>T (p.Asp1178Tyr) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71798534A>C | CA377158315 | CDH23 | c.7010A>C (p.Asp2337Ala) c.943A>C (n.943A>C) c.607A>C (n.607A>C) c.7025A>C (p.Asp2342Ala) c.290A>C (p.Asp97Ala) n.546A>C c.7205A>C (p.Asp2402Ala) c.7139A>C (p.Asp2380Ala) c.7202A>C (p.Asp2401Ala) c.7199A>C (p.Asp2400Ala) c.7145A>C (p.Asp2382Ala) c.7115A>C (p.Asp2372Ala) c.7070A>C (p.Asp2357Ala) c.6665A>C (p.Asp2222Ala) c.6023A>C (p.Asp2008Ala) c.3533A>C (p.Asp1178Ala) | |
10 | g.71798534A>G | CA377158316 | CDH23 | c.7010A>G (p.Asp2337Gly) c.943A>G (n.943A>G) c.607A>G (n.607A>G) c.7025A>G (p.Asp2342Gly) c.290A>G (p.Asp97Gly) n.546A>G c.7205A>G (p.Asp2402Gly) c.7139A>G (p.Asp2380Gly) c.7202A>G (p.Asp2401Gly) c.7199A>G (p.Asp2400Gly) c.7145A>G (p.Asp2382Gly) c.7115A>G (p.Asp2372Gly) c.7070A>G (p.Asp2357Gly) c.6665A>G (p.Asp2222Gly) c.6023A>G (p.Asp2008Gly) c.3533A>G (p.Asp1178Gly) | |
10 | g.71798534A>T | CA377158320 | CDH23 | c.7010A>T (p.Asp2337Val) c.943A>T (n.943A>T) c.607A>T (n.607A>T) c.7025A>T (p.Asp2342Val) c.290A>T (p.Asp97Val) n.546A>T c.7205A>T (p.Asp2402Val) c.7139A>T (p.Asp2380Val) c.7202A>T (p.Asp2401Val) c.7199A>T (p.Asp2400Val) c.7145A>T (p.Asp2382Val) c.7115A>T (p.Asp2372Val) c.7070A>T (p.Asp2357Val) c.6665A>T (p.Asp2222Val) c.6023A>T (p.Asp2008Val) c.3533A>T (p.Asp1178Val) | |
10 | g.71798535C>A | CA377158325 | CDH23 | c.7011C>A (p.Asp2337Glu) c.944C>A (n.944C>A) c.608C>A (n.608C>A) c.7026C>A (p.Asp2342Glu) c.291C>A (p.Asp97Glu) n.547C>A c.7206C>A (p.Asp2402Glu) c.7140C>A (p.Asp2380Glu) c.7203C>A (p.Asp2401Glu) c.7200C>A (p.Asp2400Glu) c.7146C>A (p.Asp2382Glu) c.7116C>A (p.Asp2372Glu) c.7071C>A (p.Asp2357Glu) c.6666C>A (p.Asp2222Glu) c.6024C>A (p.Asp2008Glu) c.3534C>A (p.Asp1178Glu) | |
10 | g.71798535C= | CA1918878492 | CDH23 | c.7011C= (p.Asp2337=) c.944C= (n.944C=) c.608C= (n.608C=) c.7026C= (p.Asp2342=) c.291C= (p.Asp97=) n.547C= c.7206C= (p.Asp2402=) c.7140C= (p.Asp2380=) c.7203C= (p.Asp2401=) c.7200C= (p.Asp2400=) c.7146C= (p.Asp2382=) c.7116C= (p.Asp2372=) c.7071C= (p.Asp2357=) c.6666C= (p.Asp2222=) c.6024C= (p.Asp2008=) c.3534C= (p.Asp1178=) | |
10 | g.71798535C>G | CA5546229 | CDH23 | c.7011C>G (p.Asp2337Glu) c.944C>G (n.944C>G) c.608C>G (n.608C>G) c.7026C>G (p.Asp2342Glu) c.291C>G (p.Asp97Glu) n.547C>G c.7206C>G (p.Asp2402Glu) c.7140C>G (p.Asp2380Glu) c.7203C>G (p.Asp2401Glu) c.7200C>G (p.Asp2400Glu) c.7146C>G (p.Asp2382Glu) c.7116C>G (p.Asp2372Glu) c.7071C>G (p.Asp2357Glu) c.6666C>G (p.Asp2222Glu) c.6024C>G (p.Asp2008Glu) c.3534C>G (p.Asp1178Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71798535C>T | CA470062120 | CDH23 | c.7011C>T (p.Asp2337=) c.944C>T (n.944C>T) c.608C>T (n.608C>T) c.7026C>T (p.Asp2342=) c.291C>T (p.Asp97=) n.547C>T c.7206C>T (p.Asp2402=) c.7140C>T (p.Asp2380=) c.7203C>T (p.Asp2401=) c.7200C>T (p.Asp2400=) c.7146C>T (p.Asp2382=) c.7116C>T (p.Asp2372=) c.7071C>T (p.Asp2357=) c.6666C>T (p.Asp2222=) c.6024C>T (p.Asp2008=) c.3534C>T (p.Asp1178=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.71798536C>A | CA377158332 | CDH23 | c.7012C>A (p.Leu2338Met) c.945C>A (n.945C>A) c.609C>A (n.609C>A) c.7027C>A (p.Leu2343Met) c.292C>A (p.Leu98Met) n.548C>A c.7207C>A (p.Leu2403Met) c.7141C>A (p.Leu2381Met) c.7204C>A (p.Leu2402Met) c.7201C>A (p.Leu2401Met) c.7147C>A (p.Leu2383Met) c.7117C>A (p.Leu2373Met) c.7072C>A (p.Leu2358Met) c.6667C>A (p.Leu2223Met) c.6025C>A (p.Leu2009Met) c.3535C>A (p.Leu1179Met) | |
10 | g.71798536C>G | CA377158334 | CDH23 | c.7012C>G (p.Leu2338Val) c.945C>G (n.945C>G) c.609C>G (n.609C>G) c.7027C>G (p.Leu2343Val) c.292C>G (p.Leu98Val) n.548C>G c.7207C>G (p.Leu2403Val) c.7141C>G (p.Leu2381Val) c.7204C>G (p.Leu2402Val) c.7201C>G (p.Leu2401Val) c.7147C>G (p.Leu2383Val) c.7117C>G (p.Leu2373Val) c.7072C>G (p.Leu2358Val) c.6667C>G (p.Leu2223Val) c.6025C>G (p.Leu2009Val) c.3535C>G (p.Leu1179Val) | |
10 | g.71798536C>T | CA470062121 | CDH23 | c.7012C>T (p.Leu2338=) c.945C>T (n.945C>T) c.609C>T (n.609C>T) c.7027C>T (p.Leu2343=) c.292C>T (p.Leu98=) n.548C>T c.7207C>T (p.Leu2403=) c.7141C>T (p.Leu2381=) c.7204C>T (p.Leu2402=) c.7201C>T (p.Leu2401=) c.7147C>T (p.Leu2383=) c.7117C>T (p.Leu2373=) c.7072C>T (p.Leu2358=) c.6667C>T (p.Leu2223=) c.6025C>T (p.Leu2009=) c.3535C>T (p.Leu1179=) | |
10 | g.71798537T>A | CA377158336 | CDH23 | c.7013T>A (p.Leu2338Gln) c.946T>A (n.946T>A) c.610T>A (n.610T>A) c.7028T>A (p.Leu2343Gln) c.293T>A (p.Leu98Gln) n.549T>A c.7208T>A (p.Leu2403Gln) c.7142T>A (p.Leu2381Gln) c.7205T>A (p.Leu2402Gln) c.7202T>A (p.Leu2401Gln) c.7148T>A (p.Leu2383Gln) c.7118T>A (p.Leu2373Gln) c.7073T>A (p.Leu2358Gln) c.6668T>A (p.Leu2223Gln) c.6026T>A (p.Leu2009Gln) c.3536T>A (p.Leu1179Gln) | |
10 | g.71798537T>C | CA377158337 | CDH23 | c.7013T>C (p.Leu2338Pro) c.946T>C (n.946T>C) c.610T>C (n.610T>C) c.7028T>C (p.Leu2343Pro) c.293T>C (p.Leu98Pro) n.549T>C c.7208T>C (p.Leu2403Pro) c.7142T>C (p.Leu2381Pro) c.7205T>C (p.Leu2402Pro) c.7202T>C (p.Leu2401Pro) c.7148T>C (p.Leu2383Pro) c.7118T>C (p.Leu2373Pro) c.7073T>C (p.Leu2358Pro) c.6668T>C (p.Leu2223Pro) c.6026T>C (p.Leu2009Pro) c.3536T>C (p.Leu1179Pro) | |
10 | g.71798537T>G | CA377158339 | CDH23 | c.7013T>G (p.Leu2338Arg) c.946T>G (n.946T>G) c.610T>G (n.610T>G) c.7028T>G (p.Leu2343Arg) c.293T>G (p.Leu98Arg) n.549T>G c.7208T>G (p.Leu2403Arg) c.7142T>G (p.Leu2381Arg) c.7205T>G (p.Leu2402Arg) c.7202T>G (p.Leu2401Arg) c.7148T>G (p.Leu2383Arg) c.7118T>G (p.Leu2373Arg) c.7073T>G (p.Leu2358Arg) c.6668T>G (p.Leu2223Arg) c.6026T>G (p.Leu2009Arg) c.3536T>G (p.Leu1179Arg) | |
10 | g.71798538G>A | CA470062123 | CDH23 | c.7014G>A (p.Leu2338=) c.947G>A (n.947G>A) c.611G>A (n.611G>A) c.7029G>A (p.Leu2343=) c.294G>A (p.Leu98=) n.550G>A c.7209G>A (p.Leu2403=) c.7143G>A (p.Leu2381=) c.7206G>A (p.Leu2402=) c.7203G>A (p.Leu2401=) c.7149G>A (p.Leu2383=) c.7119G>A (p.Leu2373=) c.7074G>A (p.Leu2358=) c.6669G>A (p.Leu2223=) c.6027G>A (p.Leu2009=) c.3537G>A (p.Leu1179=) | ClinVar |
10 | g.71798538G>C | CA470062124 | CDH23 | c.7014G>C (p.Leu2338=) c.947G>C (n.947G>C) c.611G>C (n.611G>C) c.7029G>C (p.Leu2343=) c.294G>C (p.Leu98=) n.550G>C c.7209G>C (p.Leu2403=) c.7143G>C (p.Leu2381=) c.7206G>C (p.Leu2402=) c.7203G>C (p.Leu2401=) c.7149G>C (p.Leu2383=) c.7119G>C (p.Leu2373=) c.7074G>C (p.Leu2358=) c.6669G>C (p.Leu2223=) c.6027G>C (p.Leu2009=) c.3537G>C (p.Leu1179=) | |
10 | g.71798538G>T | CA470062125 | CDH23 | c.7014G>T (p.Leu2338=) c.947G>T (n.947G>T) c.611G>T (n.611G>T) c.7029G>T (p.Leu2343=) c.294G>T (p.Leu98=) n.550G>T c.7209G>T (p.Leu2403=) c.7143G>T (p.Leu2381=) c.7206G>T (p.Leu2402=) c.7203G>T (p.Leu2401=) c.7149G>T (p.Leu2383=) c.7119G>T (p.Leu2373=) c.7074G>T (p.Leu2358=) c.6669G>T (p.Leu2223=) c.6027G>T (p.Leu2009=) c.3537G>T (p.Leu1179=) | ClinVar dbSNP |
10 | g.71798539G>A | CA377158343 | CDH23 | c.7015G>A (p.Val2339Met) c.948G>A (n.948G>A) c.612G>A (n.612G>A) c.7030G>A (p.Val2344Met) c.295G>A (p.Val99Met) n.551G>A c.7210G>A (p.Val2404Met) c.7144G>A (p.Val2382Met) c.7207G>A (p.Val2403Met) c.7204G>A (p.Val2402Met) c.7150G>A (p.Val2384Met) c.7120G>A (p.Val2374Met) c.7075G>A (p.Val2359Met) c.6670G>A (p.Val2224Met) c.6028G>A (p.Val2010Met) c.3538G>A (p.Val1180Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.71798539G>C | CA377158345 | CDH23 | c.7015G>C (p.Val2339Leu) c.948G>C (n.948G>C) c.612G>C (n.612G>C) c.7030G>C (p.Val2344Leu) c.295G>C (p.Val99Leu) n.551G>C c.7210G>C (p.Val2404Leu) c.7144G>C (p.Val2382Leu) c.7207G>C (p.Val2403Leu) c.7204G>C (p.Val2402Leu) c.7150G>C (p.Val2384Leu) c.7120G>C (p.Val2374Leu) c.7075G>C (p.Val2359Leu) c.6670G>C (p.Val2224Leu) c.6028G>C (p.Val2010Leu) c.3538G>C (p.Val1180Leu) | |
10 | g.71798539G= | CA1918878493 | CDH23 | c.7015G= (p.Val2339=) c.948G= (n.948G=) c.612G= (n.612G=) c.7030G= (p.Val2344=) c.295G= (p.Val99=) n.551G= c.7210G= (p.Val2404=) c.7144G= (p.Val2382=) c.7207G= (p.Val2403=) c.7204G= (p.Val2402=) c.7150G= (p.Val2384=) c.7120G= (p.Val2374=) c.7075G= (p.Val2359=) c.6670G= (p.Val2224=) c.6028G= (p.Val2010=) c.3538G= (p.Val1180=) | |
10 | g.71798539G>T | CA377158352 | CDH23 | c.7015G>T (p.Val2339Leu) c.948G>T (n.948G>T) c.612G>T (n.612G>T) c.7030G>T (p.Val2344Leu) c.295G>T (p.Val99Leu) n.551G>T c.7210G>T (p.Val2404Leu) c.7144G>T (p.Val2382Leu) c.7207G>T (p.Val2403Leu) c.7204G>T (p.Val2402Leu) c.7150G>T (p.Val2384Leu) c.7120G>T (p.Val2374Leu) c.7075G>T (p.Val2359Leu) c.6670G>T (p.Val2224Leu) c.6028G>T (p.Val2010Leu) c.3538G>T (p.Val1180Leu) | |
10 | g.71798540T>A | CA377158355 | CDH23 | c.7016T>A (p.Val2339Glu) c.949T>A (n.949T>A) c.613T>A (n.613T>A) c.7031T>A (p.Val2344Glu) c.296T>A (p.Val99Glu) n.552T>A c.7211T>A (p.Val2404Glu) c.7145T>A (p.Val2382Glu) c.7208T>A (p.Val2403Glu) c.7205T>A (p.Val2402Glu) c.7151T>A (p.Val2384Glu) c.7121T>A (p.Val2374Glu) c.7076T>A (p.Val2359Glu) c.6671T>A (p.Val2224Glu) c.6029T>A (p.Val2010Glu) c.3539T>A (p.Val1180Glu) | |
10 | g.71798540T>C | CA377158360 | CDH23 | c.7016T>C (p.Val2339Ala) c.949T>C (n.949T>C) c.613T>C (n.613T>C) c.7031T>C (p.Val2344Ala) c.296T>C (p.Val99Ala) n.552T>C c.7211T>C (p.Val2404Ala) c.7145T>C (p.Val2382Ala) c.7208T>C (p.Val2403Ala) c.7205T>C (p.Val2402Ala) c.7151T>C (p.Val2384Ala) c.7121T>C (p.Val2374Ala) c.7076T>C (p.Val2359Ala) c.6671T>C (p.Val2224Ala) c.6029T>C (p.Val2010Ala) c.3539T>C (p.Val1180Ala) | gnomAD v4 |
10 | g.71798540T>G | CA377158357 | CDH23 | c.7016T>G (p.Val2339Gly) c.949T>G (n.949T>G) c.613T>G (n.613T>G) c.7031T>G (p.Val2344Gly) c.296T>G (p.Val99Gly) n.552T>G c.7211T>G (p.Val2404Gly) c.7145T>G (p.Val2382Gly) c.7208T>G (p.Val2403Gly) c.7205T>G (p.Val2402Gly) c.7151T>G (p.Val2384Gly) c.7121T>G (p.Val2374Gly) c.7076T>G (p.Val2359Gly) c.6671T>G (p.Val2224Gly) c.6029T>G (p.Val2010Gly) c.3539T>G (p.Val1180Gly) | |
10 | g.71798541G>A | CA470062128 | CDH23 | c.7017G>A (p.Val2339=) c.950G>A (n.950G>A) c.614G>A (n.614G>A) c.7032G>A (p.Val2344=) c.297G>A (p.Val99=) n.553G>A c.7212G>A (p.Val2404=) c.7146G>A (p.Val2382=) c.7209G>A (p.Val2403=) c.7206G>A (p.Val2402=) c.7152G>A (p.Val2384=) c.7122G>A (p.Val2374=) c.7077G>A (p.Val2359=) c.6672G>A (p.Val2224=) c.6030G>A (p.Val2010=) c.3540G>A (p.Val1180=) | ClinVar |
10 | g.71798541G>C | CA470062129 | CDH23 | c.7017G>C (p.Val2339=) c.950G>C (n.950G>C) c.614G>C (n.614G>C) c.7032G>C (p.Val2344=) c.297G>C (p.Val99=) n.553G>C c.7212G>C (p.Val2404=) c.7146G>C (p.Val2382=) c.7209G>C (p.Val2403=) c.7206G>C (p.Val2402=) c.7152G>C (p.Val2384=) c.7122G>C (p.Val2374=) c.7077G>C (p.Val2359=) c.6672G>C (p.Val2224=) c.6030G>C (p.Val2010=) c.3540G>C (p.Val1180=) | |
10 | g.71798541G>T | CA470062131 | CDH23 | c.7017G>T (p.Val2339=) c.950G>T (n.950G>T) c.614G>T (n.614G>T) c.7032G>T (p.Val2344=) c.297G>T (p.Val99=) n.553G>T c.7212G>T (p.Val2404=) c.7146G>T (p.Val2382=) c.7209G>T (p.Val2403=) c.7206G>T (p.Val2402=) c.7152G>T (p.Val2384=) c.7122G>T (p.Val2374=) c.7077G>T (p.Val2359=) c.6672G>T (p.Val2224=) c.6030G>T (p.Val2010=) c.3540G>T (p.Val1180=) | |
10 | g.71798542C>A | CA377158363 | CDH23 | c.7018C>A (p.Pro2340Thr) c.951C>A (n.951C>A) c.615C>A (n.615C>A) c.7033C>A (p.Pro2345Thr) c.298C>A (p.Pro100Thr) n.554C>A c.7213C>A (p.Pro2405Thr) c.7147C>A (p.Pro2383Thr) c.7210C>A (p.Pro2404Thr) c.7207C>A (p.Pro2403Thr) c.7153C>A (p.Pro2385Thr) c.7123C>A (p.Pro2375Thr) c.7078C>A (p.Pro2360Thr) c.6673C>A (p.Pro2225Thr) c.6031C>A (p.Pro2011Thr) c.3541C>A (p.Pro1181Thr) | |
10 | g.71798542C= | CA1918878494 | CDH23 | c.7018C= (p.Pro2340=) c.951C= (n.951C=) c.615C= (n.615C=) c.7033C= (p.Pro2345=) c.298C= (p.Pro100=) n.554C= c.7213C= (p.Pro2405=) c.7147C= (p.Pro2383=) c.7210C= (p.Pro2404=) c.7207C= (p.Pro2403=) c.7153C= (p.Pro2385=) c.7123C= (p.Pro2375=) c.7078C= (p.Pro2360=) c.6673C= (p.Pro2225=) c.6031C= (p.Pro2011=) c.3541C= (p.Pro1181=) | |
10 | g.71798542C>G | CA377158367 | CDH23 | c.7018C>G (p.Pro2340Ala) c.951C>G (n.951C>G) c.615C>G (n.615C>G) c.7033C>G (p.Pro2345Ala) c.298C>G (p.Pro100Ala) n.554C>G c.7213C>G (p.Pro2405Ala) c.7147C>G (p.Pro2383Ala) c.7210C>G (p.Pro2404Ala) c.7207C>G (p.Pro2403Ala) c.7153C>G (p.Pro2385Ala) c.7123C>G (p.Pro2375Ala) c.7078C>G (p.Pro2360Ala) c.6673C>G (p.Pro2225Ala) c.6031C>G (p.Pro2011Ala) c.3541C>G (p.Pro1181Ala) | |
10 | g.71798542C>T | CA377158371 | CDH23 | c.7018C>T (p.Pro2340Ser) c.951C>T (n.951C>T) c.615C>T (n.615C>T) c.7033C>T (p.Pro2345Ser) c.298C>T (p.Pro100Ser) n.554C>T c.7213C>T (p.Pro2405Ser) c.7147C>T (p.Pro2383Ser) c.7210C>T (p.Pro2404Ser) c.7207C>T (p.Pro2403Ser) c.7153C>T (p.Pro2385Ser) c.7123C>T (p.Pro2375Ser) c.7078C>T (p.Pro2360Ser) c.6673C>T (p.Pro2225Ser) c.6031C>T (p.Pro2011Ser) c.3541C>T (p.Pro1181Ser) | dbSNP |
10 | g.71798546dup | CA2580081853 | CDH23 | c.7022dup (p.Gly2342ArgfsTer?) c.955dup (n.955dup) c.619dup (n.619dup) c.7037dup (p.Gly2347ArgfsTer?) c.302dup (p.Gly102ArgfsTer?) n.558dup c.7217dup (p.Gly2407ArgfsTer?) c.7151dup (p.Gly2385ArgfsTer?) c.7214dup (p.Gly2406ArgfsTer?) c.7211dup (p.Gly2405ArgfsTer?) c.7157dup (p.Gly2387ArgfsTer?) c.7127dup (p.Gly2377ArgfsTer?) c.7082dup (p.Gly2362ArgfsTer?) c.6677dup (p.Gly2227ArgfsTer?) c.6035dup (p.Gly2013ArgfsTer?) c.3545dup (p.Gly1183ArgfsTer?) | ClinVar |
10 | g.71798546del | CA2574455542 | CDH23 | c.7022del (p.Pro2341GlnfsTer?) c.955del (n.955del) c.619del (n.619del) c.7037del (p.Pro2346GlnfsTer?) c.302del (p.Pro101GlnfsTer?) n.558del c.7217del (p.Pro2406GlnfsTer?) c.7151del (p.Pro2384GlnfsTer?) c.7214del (p.Pro2405GlnfsTer?) c.7211del (p.Pro2404GlnfsTer?) c.7157del (p.Pro2386GlnfsTer?) c.7127del (p.Pro2376GlnfsTer?) c.7082del (p.Pro2361GlnfsTer?) c.6677del (p.Pro2226GlnfsTer?) c.6035del (p.Pro2012GlnfsTer?) c.3545del (p.Pro1182GlnfsTer?) | ClinVar dbSNP |
10 | g.71798543C>A | CA377158374 | CDH23 | c.7019C>A (p.Pro2340His) c.952C>A (n.952C>A) c.616C>A (n.616C>A) c.7034C>A (p.Pro2345His) c.299C>A (p.Pro100His) n.555C>A c.7214C>A (p.Pro2405His) c.7148C>A (p.Pro2383His) c.7211C>A (p.Pro2404His) c.7208C>A (p.Pro2403His) c.7154C>A (p.Pro2385His) c.7124C>A (p.Pro2375His) c.7079C>A (p.Pro2360His) c.6674C>A (p.Pro2225His) c.6032C>A (p.Pro2011His) c.3542C>A (p.Pro1181His) | |
10 | g.71798543C= | CA1918878495 | CDH23 | c.7019C= (p.Pro2340=) c.952C= (n.952C=) c.616C= (n.616C=) c.7034C= (p.Pro2345=) c.299C= (p.Pro100=) n.555C= c.7214C= (p.Pro2405=) c.7148C= (p.Pro2383=) c.7211C= (p.Pro2404=) c.7208C= (p.Pro2403=) c.7154C= (p.Pro2385=) c.7124C= (p.Pro2375=) c.7079C= (p.Pro2360=) c.6674C= (p.Pro2225=) c.6032C= (p.Pro2011=) c.3542C= (p.Pro1181=) | |
10 | g.71798543C>G | CA377158383 | CDH23 | c.7019C>G (p.Pro2340Arg) c.952C>G (n.952C>G) c.616C>G (n.616C>G) c.7034C>G (p.Pro2345Arg) c.299C>G (p.Pro100Arg) n.555C>G c.7214C>G (p.Pro2405Arg) c.7148C>G (p.Pro2383Arg) c.7211C>G (p.Pro2404Arg) c.7208C>G (p.Pro2403Arg) c.7154C>G (p.Pro2385Arg) c.7124C>G (p.Pro2375Arg) c.7079C>G (p.Pro2360Arg) c.6674C>G (p.Pro2225Arg) c.6032C>G (p.Pro2011Arg) c.3542C>G (p.Pro1181Arg) | |
10 | g.71798543C>T | CA377158388 | CDH23 | c.7019C>T (p.Pro2340Leu) c.952C>T (n.952C>T) c.616C>T (n.616C>T) c.7034C>T (p.Pro2345Leu) c.299C>T (p.Pro100Leu) n.555C>T c.7214C>T (p.Pro2405Leu) c.7148C>T (p.Pro2383Leu) c.7211C>T (p.Pro2404Leu) c.7208C>T (p.Pro2403Leu) c.7154C>T (p.Pro2385Leu) c.7124C>T (p.Pro2375Leu) c.7079C>T (p.Pro2360Leu) c.6674C>T (p.Pro2225Leu) c.6032C>T (p.Pro2011Leu) c.3542C>T (p.Pro1181Leu) | dbSNP |
10 | g.71798544C>A | CA470062132 | CDH23 | c.7020C>A (p.Pro2340=) c.953C>A (n.953C>A) c.617C>A (n.617C>A) c.7035C>A (p.Pro2345=) c.300C>A (p.Pro100=) n.556C>A c.7215C>A (p.Pro2405=) c.7149C>A (p.Pro2383=) c.7212C>A (p.Pro2404=) c.7209C>A (p.Pro2403=) c.7155C>A (p.Pro2385=) c.7125C>A (p.Pro2375=) c.7080C>A (p.Pro2360=) c.6675C>A (p.Pro2225=) c.6033C>A (p.Pro2011=) c.3543C>A (p.Pro1181=) | gnomAD v4 |
10 | g.71798544C>G | CA470062134 | CDH23 | c.7020C>G (p.Pro2340=) c.953C>G (n.953C>G) c.617C>G (n.617C>G) c.7035C>G (p.Pro2345=) c.300C>G (p.Pro100=) n.556C>G c.7215C>G (p.Pro2405=) c.7149C>G (p.Pro2383=) c.7212C>G (p.Pro2404=) c.7209C>G (p.Pro2403=) c.7155C>G (p.Pro2385=) c.7125C>G (p.Pro2375=) c.7080C>G (p.Pro2360=) c.6675C>G (p.Pro2225=) c.6033C>G (p.Pro2011=) c.3543C>G (p.Pro1181=) | |
10 | g.71798544C>T | CA470062133 | CDH23 | c.7020C>T (p.Pro2340=) c.953C>T (n.953C>T) c.617C>T (n.617C>T) c.7035C>T (p.Pro2345=) c.300C>T (p.Pro100=) n.556C>T c.7215C>T (p.Pro2405=) c.7149C>T (p.Pro2383=) c.7212C>T (p.Pro2404=) c.7209C>T (p.Pro2403=) c.7155C>T (p.Pro2385=) c.7125C>T (p.Pro2375=) c.7080C>T (p.Pro2360=) c.6675C>T (p.Pro2225=) c.6033C>T (p.Pro2011=) c.3543C>T (p.Pro1181=) | ClinVar |
10 | g.71798545C>A | CA377158390 | CDH23 | c.7021C>A (p.Pro2341Thr) c.954C>A (n.954C>A) c.618C>A (n.618C>A) c.7036C>A (p.Pro2346Thr) c.301C>A (p.Pro101Thr) n.557C>A c.7216C>A (p.Pro2406Thr) c.7150C>A (p.Pro2384Thr) c.7213C>A (p.Pro2405Thr) c.7210C>A (p.Pro2404Thr) c.7156C>A (p.Pro2386Thr) c.7126C>A (p.Pro2376Thr) c.7081C>A (p.Pro2361Thr) c.6676C>A (p.Pro2226Thr) c.6034C>A (p.Pro2012Thr) c.3544C>A (p.Pro1182Thr) | |
10 | g.71798545C= | CA1918878496 | CDH23 | c.7021C= (p.Pro2341=) c.954C= (n.954C=) c.618C= (n.618C=) c.7036C= (p.Pro2346=) c.301C= (p.Pro101=) n.557C= c.7216C= (p.Pro2406=) c.7150C= (p.Pro2384=) c.7213C= (p.Pro2405=) c.7210C= (p.Pro2404=) c.7156C= (p.Pro2386=) c.7126C= (p.Pro2376=) c.7081C= (p.Pro2361=) c.6676C= (p.Pro2226=) c.6034C= (p.Pro2012=) c.3544C= (p.Pro1182=) | |
10 | g.71798545C>G | CA377158393 | CDH23 | c.7021C>G (p.Pro2341Ala) c.954C>G (n.954C>G) c.618C>G (n.618C>G) c.7036C>G (p.Pro2346Ala) c.301C>G (p.Pro101Ala) n.557C>G c.7216C>G (p.Pro2406Ala) c.7150C>G (p.Pro2384Ala) c.7213C>G (p.Pro2405Ala) c.7210C>G (p.Pro2404Ala) c.7156C>G (p.Pro2386Ala) c.7126C>G (p.Pro2376Ala) c.7081C>G (p.Pro2361Ala) c.6676C>G (p.Pro2226Ala) c.6034C>G (p.Pro2012Ala) c.3544C>G (p.Pro1182Ala) | gnomAD v4 |
10 | g.71798545C>T | CA377158396 | CDH23 | c.7021C>T (p.Pro2341Ser) c.954C>T (n.954C>T) c.618C>T (n.618C>T) c.7036C>T (p.Pro2346Ser) c.301C>T (p.Pro101Ser) n.557C>T c.7216C>T (p.Pro2406Ser) c.7150C>T (p.Pro2384Ser) c.7213C>T (p.Pro2405Ser) c.7210C>T (p.Pro2404Ser) c.7156C>T (p.Pro2386Ser) c.7126C>T (p.Pro2376Ser) c.7081C>T (p.Pro2361Ser) c.6676C>T (p.Pro2226Ser) c.6034C>T (p.Pro2012Ser) c.3544C>T (p.Pro1182Ser) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71798546C>A | CA377158408 | CDH23 | c.7022C>A (p.Pro2341Gln) c.955C>A (n.955C>A) c.619C>A (n.619C>A) c.7037C>A (p.Pro2346Gln) c.302C>A (p.Pro101Gln) n.558C>A c.7217C>A (p.Pro2406Gln) c.7151C>A (p.Pro2384Gln) c.7214C>A (p.Pro2405Gln) c.7211C>A (p.Pro2404Gln) c.7157C>A (p.Pro2386Gln) c.7127C>A (p.Pro2376Gln) c.7082C>A (p.Pro2361Gln) c.6677C>A (p.Pro2226Gln) c.6035C>A (p.Pro2012Gln) c.3545C>A (p.Pro1182Gln) | |
10 | g.71798546C= | CA1918878497 | CDH23 | c.7022C= (p.Pro2341=) c.955C= (n.955C=) c.619C= (n.619C=) c.7037C= (p.Pro2346=) c.302C= (p.Pro101=) n.558C= c.7217C= (p.Pro2406=) c.7151C= (p.Pro2384=) c.7214C= (p.Pro2405=) c.7211C= (p.Pro2404=) c.7157C= (p.Pro2386=) c.7127C= (p.Pro2376=) c.7082C= (p.Pro2361=) c.6677C= (p.Pro2226=) c.6035C= (p.Pro2012=) c.3545C= (p.Pro1182=) | |
10 | g.71798546C>G | CA377158411 | CDH23 | c.7022C>G (p.Pro2341Arg) c.955C>G (n.955C>G) c.619C>G (n.619C>G) c.7037C>G (p.Pro2346Arg) c.302C>G (p.Pro101Arg) n.558C>G c.7217C>G (p.Pro2406Arg) c.7151C>G (p.Pro2384Arg) c.7214C>G (p.Pro2405Arg) c.7211C>G (p.Pro2404Arg) c.7157C>G (p.Pro2386Arg) c.7127C>G (p.Pro2376Arg) c.7082C>G (p.Pro2361Arg) c.6677C>G (p.Pro2226Arg) c.6035C>G (p.Pro2012Arg) c.3545C>G (p.Pro1182Arg) | ClinVar dbSNP gnomAD v4 |
10 | g.71798546C>T | CA377158414 | CDH23 | c.7022C>T (p.Pro2341Leu) c.955C>T (n.955C>T) c.619C>T (n.619C>T) c.7037C>T (p.Pro2346Leu) c.302C>T (p.Pro101Leu) n.558C>T c.7217C>T (p.Pro2406Leu) c.7151C>T (p.Pro2384Leu) c.7214C>T (p.Pro2405Leu) c.7211C>T (p.Pro2404Leu) c.7157C>T (p.Pro2386Leu) c.7127C>T (p.Pro2376Leu) c.7082C>T (p.Pro2361Leu) c.6677C>T (p.Pro2226Leu) c.6035C>T (p.Pro2012Leu) c.3545C>T (p.Pro1182Leu) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71798547A>C | CA470062137 | CDH23 | c.7023A>C (p.Pro2341=) c.956A>C (n.956A>C) c.620A>C (n.620A>C) c.7038A>C (p.Pro2346=) c.303A>C (p.Pro101=) n.559A>C c.7218A>C (p.Pro2406=) c.7152A>C (p.Pro2384=) c.7215A>C (p.Pro2405=) c.7212A>C (p.Pro2404=) c.7158A>C (p.Pro2386=) c.7128A>C (p.Pro2376=) c.7083A>C (p.Pro2361=) c.6678A>C (p.Pro2226=) c.6036A>C (p.Pro2012=) c.3546A>C (p.Pro1182=) | |
10 | g.71798547A>G | CA470062138 | CDH23 | c.7023A>G (p.Pro2341=) c.956A>G (n.956A>G) c.620A>G (n.620A>G) c.7038A>G (p.Pro2346=) c.303A>G (p.Pro101=) n.559A>G c.7218A>G (p.Pro2406=) c.7152A>G (p.Pro2384=) c.7215A>G (p.Pro2405=) c.7212A>G (p.Pro2404=) c.7158A>G (p.Pro2386=) c.7128A>G (p.Pro2376=) c.7083A>G (p.Pro2361=) c.6678A>G (p.Pro2226=) c.6036A>G (p.Pro2012=) c.3546A>G (p.Pro1182=) | ClinVar |
10 | g.71798547A>T | CA470062139 | CDH23 | c.7023A>T (p.Pro2341=) c.956A>T (n.956A>T) c.620A>T (n.620A>T) c.7038A>T (p.Pro2346=) c.303A>T (p.Pro101=) n.559A>T c.7218A>T (p.Pro2406=) c.7152A>T (p.Pro2384=) c.7215A>T (p.Pro2405=) c.7212A>T (p.Pro2404=) c.7158A>T (p.Pro2386=) c.7128A>T (p.Pro2376=) c.7083A>T (p.Pro2361=) c.6678A>T (p.Pro2226=) c.6036A>T (p.Pro2012=) c.3546A>T (p.Pro1182=) | |
10 | g.71798548G>A | CA377158417 | CDH23 | c.7024G>A (p.Gly2342Arg) c.957G>A (n.957G>A) c.621G>A (n.621G>A) c.7039G>A (p.Gly2347Arg) c.304G>A (p.Gly102Arg) n.560G>A c.7219G>A (p.Gly2407Arg) c.7153G>A (p.Gly2385Arg) c.7216G>A (p.Gly2406Arg) c.7213G>A (p.Gly2405Arg) c.7159G>A (p.Gly2387Arg) c.7129G>A (p.Gly2377Arg) c.7084G>A (p.Gly2362Arg) c.6679G>A (p.Gly2227Arg) c.6037G>A (p.Gly2013Arg) c.3547G>A (p.Gly1183Arg) | dbSNP |
10 | g.71798548G>C | CA5546230 | CDH23 | c.7024G>C (p.Gly2342Arg) c.957G>C (n.957G>C) c.621G>C (n.621G>C) c.7039G>C (p.Gly2347Arg) c.304G>C (p.Gly102Arg) n.560G>C c.7219G>C (p.Gly2407Arg) c.7153G>C (p.Gly2385Arg) c.7216G>C (p.Gly2406Arg) c.7213G>C (p.Gly2405Arg) c.7159G>C (p.Gly2387Arg) c.7129G>C (p.Gly2377Arg) c.7084G>C (p.Gly2362Arg) c.6679G>C (p.Gly2227Arg) c.6037G>C (p.Gly2013Arg) c.3547G>C (p.Gly1183Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71798548G= | CA1918878498 | CDH23 | c.7024G= (p.Gly2342=) c.957G= (n.957G=) c.621G= (n.621G=) c.7039G= (p.Gly2347=) c.304G= (p.Gly102=) n.560G= c.7219G= (p.Gly2407=) c.7153G= (p.Gly2385=) c.7216G= (p.Gly2406=) c.7213G= (p.Gly2405=) c.7159G= (p.Gly2387=) c.7129G= (p.Gly2377=) c.7084G= (p.Gly2362=) c.6679G= (p.Gly2227=) c.6037G= (p.Gly2013=) c.3547G= (p.Gly1183=) | |
10 | g.71798548G>T | CA377158420 | CDH23 | c.7024G>T (p.Gly2342Trp) c.957G>T (n.957G>T) c.621G>T (n.621G>T) c.7039G>T (p.Gly2347Trp) c.304G>T (p.Gly102Trp) n.560G>T c.7219G>T (p.Gly2407Trp) c.7153G>T (p.Gly2385Trp) c.7216G>T (p.Gly2406Trp) c.7213G>T (p.Gly2405Trp) c.7159G>T (p.Gly2387Trp) c.7129G>T (p.Gly2377Trp) c.7084G>T (p.Gly2362Trp) c.6679G>T (p.Gly2227Trp) c.6037G>T (p.Gly2013Trp) c.3547G>T (p.Gly1183Trp) | |
10 | g.71798550del | CA2695212111 | CDH23 | c.7026del (p.Tyr2343MetfsTer?) c.959del (n.959del) c.623del (n.623del) c.7041del (p.Tyr2348MetfsTer?) c.306del (p.Tyr103MetfsTer?) n.562del c.7221del (p.Tyr2408MetfsTer?) c.7155del (p.Tyr2386MetfsTer?) c.7218del (p.Tyr2407MetfsTer?) c.7215del (p.Tyr2406MetfsTer?) c.7161del (p.Tyr2388MetfsTer?) c.7131del (p.Tyr2378MetfsTer?) c.7086del (p.Tyr2363MetfsTer?) c.6681del (p.Tyr2228MetfsTer?) c.6039del (p.Tyr2014MetfsTer?) c.3549del (p.Tyr1184MetfsTer?) | |
10 | g.71798549G>A | CA377158426 | CDH23 | c.7025G>A (p.Gly2342Glu) c.958G>A (n.958G>A) c.622G>A (n.622G>A) c.7040G>A (p.Gly2347Glu) c.305G>A (p.Gly102Glu) n.561G>A c.7220G>A (p.Gly2407Glu) c.7154G>A (p.Gly2385Glu) c.7217G>A (p.Gly2406Glu) c.7214G>A (p.Gly2405Glu) c.7160G>A (p.Gly2387Glu) c.7130G>A (p.Gly2377Glu) c.7085G>A (p.Gly2362Glu) c.6680G>A (p.Gly2227Glu) c.6038G>A (p.Gly2013Glu) c.3548G>A (p.Gly1183Glu) | gnomAD v4 |
10 | g.71798549G>C | CA5546231 | CDH23 | c.7025G>C (p.Gly2342Ala) c.958G>C (n.958G>C) c.622G>C (n.622G>C) c.7040G>C (p.Gly2347Ala) c.305G>C (p.Gly102Ala) n.561G>C c.7220G>C (p.Gly2407Ala) c.7154G>C (p.Gly2385Ala) c.7217G>C (p.Gly2406Ala) c.7214G>C (p.Gly2405Ala) c.7160G>C (p.Gly2387Ala) c.7130G>C (p.Gly2377Ala) c.7085G>C (p.Gly2362Ala) c.6680G>C (p.Gly2227Ala) c.6038G>C (p.Gly2013Ala) c.3548G>C (p.Gly1183Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71798549G= | CA1918878499 | CDH23 | c.7025G= (p.Gly2342=) c.958G= (n.958G=) c.622G= (n.622G=) c.7040G= (p.Gly2347=) c.305G= (p.Gly102=) n.561G= c.7220G= (p.Gly2407=) c.7154G= (p.Gly2385=) c.7217G= (p.Gly2406=) c.7214G= (p.Gly2405=) c.7160G= (p.Gly2387=) c.7130G= (p.Gly2377=) c.7085G= (p.Gly2362=) c.6680G= (p.Gly2227=) c.6038G= (p.Gly2013=) c.3548G= (p.Gly1183=) | |
10 | g.71798549G>T | CA377158432 | CDH23 | c.7025G>T (p.Gly2342Val) c.958G>T (n.958G>T) c.622G>T (n.622G>T) c.7040G>T (p.Gly2347Val) c.305G>T (p.Gly102Val) n.561G>T c.7220G>T (p.Gly2407Val) c.7154G>T (p.Gly2385Val) c.7217G>T (p.Gly2406Val) c.7214G>T (p.Gly2405Val) c.7160G>T (p.Gly2387Val) c.7130G>T (p.Gly2377Val) c.7085G>T (p.Gly2362Val) c.6680G>T (p.Gly2227Val) c.6038G>T (p.Gly2013Val) c.3548G>T (p.Gly1183Val) | |
10 | g.71798550G>A | CA5546233 | CDH23 | c.7026G>A (p.Gly2342=) c.959G>A (n.959G>A) c.623G>A (n.623G>A) c.7041G>A (p.Gly2347=) c.306G>A (p.Gly102=) n.562G>A c.7221G>A (p.Gly2407=) c.7155G>A (p.Gly2385=) c.7218G>A (p.Gly2406=) c.7215G>A (p.Gly2405=) c.7161G>A (p.Gly2387=) c.7131G>A (p.Gly2377=) c.7086G>A (p.Gly2362=) c.6681G>A (p.Gly2227=) c.6039G>A (p.Gly2013=) c.3549G>A (p.Gly1183=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71798550G>C | CA5546232 | CDH23 | c.7026G>C (p.Gly2342=) c.959G>C (n.959G>C) c.623G>C (n.623G>C) c.7041G>C (p.Gly2347=) c.306G>C (p.Gly102=) n.562G>C c.7221G>C (p.Gly2407=) c.7155G>C (p.Gly2385=) c.7218G>C (p.Gly2406=) c.7215G>C (p.Gly2405=) c.7161G>C (p.Gly2387=) c.7131G>C (p.Gly2377=) c.7086G>C (p.Gly2362=) c.6681G>C (p.Gly2227=) c.6039G>C (p.Gly2013=) c.3549G>C (p.Gly1183=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71798550G= | CA1918878500 | CDH23 | c.7026G= (p.Gly2342=) c.959G= (n.959G=) c.623G= (n.623G=) c.7041G= (p.Gly2347=) c.306G= (p.Gly102=) n.562G= c.7221G= (p.Gly2407=) c.7155G= (p.Gly2385=) c.7218G= (p.Gly2406=) c.7215G= (p.Gly2405=) c.7161G= (p.Gly2387=) c.7131G= (p.Gly2377=) c.7086G= (p.Gly2362=) c.6681G= (p.Gly2227=) c.6039G= (p.Gly2013=) c.3549G= (p.Gly1183=) | |
10 | g.71798550G>T | CA470062141 | CDH23 | c.7026G>T (p.Gly2342=) c.959G>T (n.959G>T) c.623G>T (n.623G>T) c.7041G>T (p.Gly2347=) c.306G>T (p.Gly102=) n.562G>T c.7221G>T (p.Gly2407=) c.7155G>T (p.Gly2385=) c.7218G>T (p.Gly2406=) c.7215G>T (p.Gly2405=) c.7161G>T (p.Gly2387=) c.7131G>T (p.Gly2377=) c.7086G>T (p.Gly2362=) c.6681G>T (p.Gly2227=) c.6039G>T (p.Gly2013=) c.3549G>T (p.Gly1183=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71798551T>A | CA377158436 | CDH23 | c.7027T>A (p.Tyr2343Asn) c.960T>A (n.960T>A) c.624T>A (n.624T>A) c.7042T>A (p.Tyr2348Asn) c.307T>A (p.Tyr103Asn) n.563T>A c.7222T>A (p.Tyr2408Asn) c.7156T>A (p.Tyr2386Asn) c.7219T>A (p.Tyr2407Asn) c.7216T>A (p.Tyr2406Asn) c.7162T>A (p.Tyr2388Asn) c.7132T>A (p.Tyr2378Asn) c.7087T>A (p.Tyr2363Asn) c.6682T>A (p.Tyr2228Asn) c.6040T>A (p.Tyr2014Asn) c.3550T>A (p.Tyr1184Asn) | |
10 | g.71798551T>C | CA377158440 | CDH23 | c.7027T>C (p.Tyr2343His) c.960T>C (n.960T>C) c.624T>C (n.624T>C) c.7042T>C (p.Tyr2348His) c.307T>C (p.Tyr103His) n.563T>C c.7222T>C (p.Tyr2408His) c.7156T>C (p.Tyr2386His) c.7219T>C (p.Tyr2407His) c.7216T>C (p.Tyr2406His) c.7162T>C (p.Tyr2388His) c.7132T>C (p.Tyr2378His) c.7087T>C (p.Tyr2363His) c.6682T>C (p.Tyr2228His) c.6040T>C (p.Tyr2014His) c.3550T>C (p.Tyr1184His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71798551T>G | CA377158441 | CDH23 | c.7027T>G (p.Tyr2343Asp) c.960T>G (n.960T>G) c.624T>G (n.624T>G) c.7042T>G (p.Tyr2348Asp) c.307T>G (p.Tyr103Asp) n.563T>G c.7222T>G (p.Tyr2408Asp) c.7156T>G (p.Tyr2386Asp) c.7219T>G (p.Tyr2407Asp) c.7216T>G (p.Tyr2406Asp) c.7162T>G (p.Tyr2388Asp) c.7132T>G (p.Tyr2378Asp) c.7087T>G (p.Tyr2363Asp) c.6682T>G (p.Tyr2228Asp) c.6040T>G (p.Tyr2014Asp) c.3550T>G (p.Tyr1184Asp) | |
10 | g.71798551T= | CA1918878501 | CDH23 | c.7027T= (p.Tyr2343=) c.960T= (n.960T=) c.624T= (n.624T=) c.7042T= (p.Tyr2348=) c.307T= (p.Tyr103=) n.563T= c.7222T= (p.Tyr2408=) c.7156T= (p.Tyr2386=) c.7219T= (p.Tyr2407=) c.7216T= (p.Tyr2406=) c.7162T= (p.Tyr2388=) c.7132T= (p.Tyr2378=) c.7087T= (p.Tyr2363=) c.6682T= (p.Tyr2228=) c.6040T= (p.Tyr2014=) c.3550T= (p.Tyr1184=) | |
10 | g.71798552A>C | CA377158442 | CDH23 | c.7028A>C (p.Tyr2343Ser) c.961A>C (n.961A>C) c.625A>C (n.625A>C) c.7043A>C (p.Tyr2348Ser) c.308A>C (p.Tyr103Ser) n.564A>C c.7223A>C (p.Tyr2408Ser) c.7157A>C (p.Tyr2386Ser) c.7220A>C (p.Tyr2407Ser) c.7217A>C (p.Tyr2406Ser) c.7163A>C (p.Tyr2388Ser) c.7133A>C (p.Tyr2378Ser) c.7088A>C (p.Tyr2363Ser) c.6683A>C (p.Tyr2228Ser) c.6041A>C (p.Tyr2014Ser) c.3551A>C (p.Tyr1184Ser) | |
10 | g.71798552A>G | CA377158443 | CDH23 | c.7028A>G (p.Tyr2343Cys) c.961A>G (n.961A>G) c.625A>G (n.625A>G) c.7043A>G (p.Tyr2348Cys) c.308A>G (p.Tyr103Cys) n.564A>G c.7223A>G (p.Tyr2408Cys) c.7157A>G (p.Tyr2386Cys) c.7220A>G (p.Tyr2407Cys) c.7217A>G (p.Tyr2406Cys) c.7163A>G (p.Tyr2388Cys) c.7133A>G (p.Tyr2378Cys) c.7088A>G (p.Tyr2363Cys) c.6683A>G (p.Tyr2228Cys) c.6041A>G (p.Tyr2014Cys) c.3551A>G (p.Tyr1184Cys) | |
10 | g.71798552A>T | CA377158444 | CDH23 | c.7028A>T (p.Tyr2343Phe) c.961A>T (n.961A>T) c.625A>T (n.625A>T) c.7043A>T (p.Tyr2348Phe) c.308A>T (p.Tyr103Phe) n.564A>T c.7223A>T (p.Tyr2408Phe) c.7157A>T (p.Tyr2386Phe) c.7220A>T (p.Tyr2407Phe) c.7217A>T (p.Tyr2406Phe) c.7163A>T (p.Tyr2388Phe) c.7133A>T (p.Tyr2378Phe) c.7088A>T (p.Tyr2363Phe) c.6683A>T (p.Tyr2228Phe) c.6041A>T (p.Tyr2014Phe) c.3551A>T (p.Tyr1184Phe) | |
10 | g.71798553T>A | CA377158445 | CDH23 | c.7029T>A (p.Tyr2343Ter) c.962T>A (n.962T>A) c.626T>A (n.626T>A) c.7044T>A (p.Tyr2348Ter) c.309T>A (p.Tyr103Ter) n.565T>A c.7224T>A (p.Tyr2408Ter) c.7158T>A (p.Tyr2386Ter) c.7221T>A (p.Tyr2407Ter) c.7218T>A (p.Tyr2406Ter) c.7164T>A (p.Tyr2388Ter) c.7134T>A (p.Tyr2378Ter) c.7089T>A (p.Tyr2363Ter) c.6684T>A (p.Tyr2228Ter) c.6042T>A (p.Tyr2014Ter) c.3552T>A (p.Tyr1184Ter) | |
10 | g.71798553T>C | CA470062178 | CDH23 | c.7029T>C (p.Tyr2343=) c.962T>C (n.962T>C) c.626T>C (n.626T>C) c.7044T>C (p.Tyr2348=) c.309T>C (p.Tyr103=) n.565T>C c.7224T>C (p.Tyr2408=) c.7158T>C (p.Tyr2386=) c.7221T>C (p.Tyr2407=) c.7218T>C (p.Tyr2406=) c.7164T>C (p.Tyr2388=) c.7134T>C (p.Tyr2378=) c.7089T>C (p.Tyr2363=) c.6684T>C (p.Tyr2228=) c.6042T>C (p.Tyr2014=) c.3552T>C (p.Tyr1184=) | ClinVar dbSNP |
10 | g.71798553T>G | CA377158446 | CDH23 | c.7029T>G (p.Tyr2343Ter) c.962T>G (n.962T>G) c.626T>G (n.626T>G) c.7044T>G (p.Tyr2348Ter) c.309T>G (p.Tyr103Ter) n.565T>G c.7224T>G (p.Tyr2408Ter) c.7158T>G (p.Tyr2386Ter) c.7221T>G (p.Tyr2407Ter) c.7218T>G (p.Tyr2406Ter) c.7164T>G (p.Tyr2388Ter) c.7134T>G (p.Tyr2378Ter) c.7089T>G (p.Tyr2363Ter) c.6684T>G (p.Tyr2228Ter) c.6042T>G (p.Tyr2014Ter) c.3552T>G (p.Tyr1184Ter) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71798553T= | CA1918878502 | CDH23 | c.7029T= (p.Tyr2343=) c.962T= (n.962T=) c.626T= (n.626T=) c.7044T= (p.Tyr2348=) c.309T= (p.Tyr103=) n.565T= c.7224T= (p.Tyr2408=) c.7158T= (p.Tyr2386=) c.7221T= (p.Tyr2407=) c.7218T= (p.Tyr2406=) c.7164T= (p.Tyr2388=) c.7134T= (p.Tyr2378=) c.7089T= (p.Tyr2363=) c.6684T= (p.Tyr2228=) c.6042T= (p.Tyr2014=) c.3552T= (p.Tyr1184=) | |
10 | g.71798554G>A | CA377158450 | CDH23 | c.7030G>A (p.Val2344Ile) c.963G>A (n.963G>A) c.627G>A (n.627G>A) c.7045G>A (p.Val2349Ile) c.310G>A (p.Val104Ile) n.566G>A c.7225G>A (p.Val2409Ile) c.7159G>A (p.Val2387Ile) c.7222G>A (p.Val2408Ile) c.7219G>A (p.Val2407Ile) c.7165G>A (p.Val2389Ile) c.7135G>A (p.Val2379Ile) c.7090G>A (p.Val2364Ile) c.6685G>A (p.Val2229Ile) c.6043G>A (p.Val2015Ile) c.3553G>A (p.Val1185Ile) | |
10 | g.71798554G>C | CA377158448 | CDH23 | c.7030G>C (p.Val2344Leu) c.963G>C (n.963G>C) c.627G>C (n.627G>C) c.7045G>C (p.Val2349Leu) c.310G>C (p.Val104Leu) n.566G>C c.7225G>C (p.Val2409Leu) c.7159G>C (p.Val2387Leu) c.7222G>C (p.Val2408Leu) c.7219G>C (p.Val2407Leu) c.7165G>C (p.Val2389Leu) c.7135G>C (p.Val2379Leu) c.7090G>C (p.Val2364Leu) c.6685G>C (p.Val2229Leu) c.6043G>C (p.Val2015Leu) c.3553G>C (p.Val1185Leu) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71798554G= | CA1918878503 | CDH23 | c.7030G= (p.Val2344=) c.963G= (n.963G=) c.627G= (n.627G=) c.7045G= (p.Val2349=) c.310G= (p.Val104=) n.566G= c.7225G= (p.Val2409=) c.7159G= (p.Val2387=) c.7222G= (p.Val2408=) c.7219G= (p.Val2407=) c.7165G= (p.Val2389=) c.7135G= (p.Val2379=) c.7090G= (p.Val2364=) c.6685G= (p.Val2229=) c.6043G= (p.Val2015=) c.3553G= (p.Val1185=) | |
10 | g.71798554G>T | CA377158449 | CDH23 | c.7030G>T (p.Val2344Phe) c.963G>T (n.963G>T) c.627G>T (n.627G>T) c.7045G>T (p.Val2349Phe) c.310G>T (p.Val104Phe) n.566G>T c.7225G>T (p.Val2409Phe) c.7159G>T (p.Val2387Phe) c.7222G>T (p.Val2408Phe) c.7219G>T (p.Val2407Phe) c.7165G>T (p.Val2389Phe) c.7135G>T (p.Val2379Phe) c.7090G>T (p.Val2364Phe) c.6685G>T (p.Val2229Phe) c.6043G>T (p.Val2015Phe) c.3553G>T (p.Val1185Phe) | |
10 | g.71798555T>A | CA377158457 | CDH23 | c.7031T>A (p.Val2344Asp) c.964T>A (n.964T>A) c.628T>A (n.628T>A) c.7046T>A (p.Val2349Asp) c.311T>A (p.Val104Asp) n.567T>A c.7226T>A (p.Val2409Asp) c.7160T>A (p.Val2387Asp) c.7223T>A (p.Val2408Asp) c.7220T>A (p.Val2407Asp) c.7166T>A (p.Val2389Asp) c.7136T>A (p.Val2379Asp) c.7091T>A (p.Val2364Asp) c.6686T>A (p.Val2229Asp) c.6044T>A (p.Val2015Asp) c.3554T>A (p.Val1185Asp) | |
10 | g.71798555T>C | CA377158458 | CDH23 | c.7031T>C (p.Val2344Ala) c.964T>C (n.964T>C) c.628T>C (n.628T>C) c.7046T>C (p.Val2349Ala) c.311T>C (p.Val104Ala) n.567T>C c.7226T>C (p.Val2409Ala) c.7160T>C (p.Val2387Ala) c.7223T>C (p.Val2408Ala) c.7220T>C (p.Val2407Ala) c.7166T>C (p.Val2389Ala) c.7136T>C (p.Val2379Ala) c.7091T>C (p.Val2364Ala) c.6686T>C (p.Val2229Ala) c.6044T>C (p.Val2015Ala) c.3554T>C (p.Val1185Ala) | |
10 | g.71798555T>G | CA377158459 | CDH23 | c.7031T>G (p.Val2344Gly) c.964T>G (n.964T>G) c.628T>G (n.628T>G) c.7046T>G (p.Val2349Gly) c.311T>G (p.Val104Gly) n.567T>G c.7226T>G (p.Val2409Gly) c.7160T>G (p.Val2387Gly) c.7223T>G (p.Val2408Gly) c.7220T>G (p.Val2407Gly) c.7166T>G (p.Val2389Gly) c.7136T>G (p.Val2379Gly) c.7091T>G (p.Val2364Gly) c.6686T>G (p.Val2229Gly) c.6044T>G (p.Val2015Gly) c.3554T>G (p.Val1185Gly) | |
10 | g.71798556C>A | CA470062180 | CDH23 | c.7032C>A (p.Val2344=) c.965C>A (n.965C>A) c.629C>A (n.629C>A) c.7047C>A (p.Val2349=) c.312C>A (p.Val104=) n.568C>A c.7227C>A (p.Val2409=) c.7161C>A (p.Val2387=) c.7224C>A (p.Val2408=) c.7221C>A (p.Val2407=) c.7167C>A (p.Val2389=) c.7137C>A (p.Val2379=) c.7092C>A (p.Val2364=) c.6687C>A (p.Val2229=) c.6045C>A (p.Val2015=) c.3555C>A (p.Val1185=) | |
10 | g.71798556C>G | CA470062181 | CDH23 | c.7032C>G (p.Val2344=) c.965C>G (n.965C>G) c.629C>G (n.629C>G) c.7047C>G (p.Val2349=) c.312C>G (p.Val104=) n.568C>G c.7227C>G (p.Val2409=) c.7161C>G (p.Val2387=) c.7224C>G (p.Val2408=) c.7221C>G (p.Val2407=) c.7167C>G (p.Val2389=) c.7137C>G (p.Val2379=) c.7092C>G (p.Val2364=) c.6687C>G (p.Val2229=) c.6045C>G (p.Val2015=) c.3555C>G (p.Val1185=) | COSMIC |
10 | g.71798556C>T | CA470062182 | CDH23 | c.7032C>T (p.Val2344=) c.965C>T (n.965C>T) c.629C>T (n.629C>T) c.7047C>T (p.Val2349=) c.312C>T (p.Val104=) n.568C>T c.7227C>T (p.Val2409=) c.7161C>T (p.Val2387=) c.7224C>T (p.Val2408=) c.7221C>T (p.Val2407=) c.7167C>T (p.Val2389=) c.7137C>T (p.Val2379=) c.7092C>T (p.Val2364=) c.6687C>T (p.Val2229=) c.6045C>T (p.Val2015=) c.3555C>T (p.Val1185=) | |
10 | g.71798557C>A | CA377158460 | CDH23 | c.7033C>A (p.Gln2345Lys) c.966C>A (n.966C>A) c.630C>A (n.630C>A) c.7048C>A (p.Gln2350Lys) c.313C>A (p.Gln105Lys) n.569C>A c.7228C>A (p.Gln2410Lys) c.7162C>A (p.Gln2388Lys) c.7225C>A (p.Gln2409Lys) c.7222C>A (p.Gln2408Lys) c.7168C>A (p.Gln2390Lys) c.7138C>A (p.Gln2380Lys) c.7093C>A (p.Gln2365Lys) c.6688C>A (p.Gln2230Lys) c.6046C>A (p.Gln2016Lys) c.3556C>A (p.Gln1186Lys) | |
10 | g.71798557C>G | CA377158461 | CDH23 | c.7033C>G (p.Gln2345Glu) c.966C>G (n.966C>G) c.630C>G (n.630C>G) c.7048C>G (p.Gln2350Glu) c.313C>G (p.Gln105Glu) n.569C>G c.7228C>G (p.Gln2410Glu) c.7162C>G (p.Gln2388Glu) c.7225C>G (p.Gln2409Glu) c.7222C>G (p.Gln2408Glu) c.7168C>G (p.Gln2390Glu) c.7138C>G (p.Gln2380Glu) c.7093C>G (p.Gln2365Glu) c.6688C>G (p.Gln2230Glu) c.6046C>G (p.Gln2016Glu) c.3556C>G (p.Gln1186Glu) | |
10 | g.71798557C>T | CA377158462 | CDH23 | c.7033C>T (p.Gln2345Ter) c.966C>T (n.966C>T) c.630C>T (n.630C>T) c.7048C>T (p.Gln2350Ter) c.313C>T (p.Gln105Ter) n.569C>T c.7228C>T (p.Gln2410Ter) c.7162C>T (p.Gln2388Ter) c.7225C>T (p.Gln2409Ter) c.7222C>T (p.Gln2408Ter) c.7168C>T (p.Gln2390Ter) c.7138C>T (p.Gln2380Ter) c.7093C>T (p.Gln2365Ter) c.6688C>T (p.Gln2230Ter) c.6046C>T (p.Gln2016Ter) c.3556C>T (p.Gln1186Ter) | |
10 | g.71798558A>C | CA377158463 | CDH23 | c.7034A>C (p.Gln2345Pro) c.967A>C (n.967A>C) c.631A>C (n.631A>C) c.7049A>C (p.Gln2350Pro) c.314A>C (p.Gln105Pro) n.570A>C c.7229A>C (p.Gln2410Pro) c.7163A>C (p.Gln2388Pro) c.7226A>C (p.Gln2409Pro) c.7223A>C (p.Gln2408Pro) c.7169A>C (p.Gln2390Pro) c.7139A>C (p.Gln2380Pro) c.7094A>C (p.Gln2365Pro) c.6689A>C (p.Gln2230Pro) c.6047A>C (p.Gln2016Pro) c.3557A>C (p.Gln1186Pro) | |
10 | g.71798558A>G | CA377158464 | CDH23 | c.7034A>G (p.Gln2345Arg) c.967A>G (n.967A>G) c.631A>G (n.631A>G) c.7049A>G (p.Gln2350Arg) c.314A>G (p.Gln105Arg) n.570A>G c.7229A>G (p.Gln2410Arg) c.7163A>G (p.Gln2388Arg) c.7226A>G (p.Gln2409Arg) c.7223A>G (p.Gln2408Arg) c.7169A>G (p.Gln2390Arg) c.7139A>G (p.Gln2380Arg) c.7094A>G (p.Gln2365Arg) c.6689A>G (p.Gln2230Arg) c.6047A>G (p.Gln2016Arg) c.3557A>G (p.Gln1186Arg) | |
10 | g.71798558A>T | CA377158465 | CDH23 | c.7034A>T (p.Gln2345Leu) c.967A>T (n.967A>T) c.631A>T (n.631A>T) c.7049A>T (p.Gln2350Leu) c.314A>T (p.Gln105Leu) n.570A>T c.7229A>T (p.Gln2410Leu) c.7163A>T (p.Gln2388Leu) c.7226A>T (p.Gln2409Leu) c.7223A>T (p.Gln2408Leu) c.7169A>T (p.Gln2390Leu) c.7139A>T (p.Gln2380Leu) c.7094A>T (p.Gln2365Leu) c.6689A>T (p.Gln2230Leu) c.6047A>T (p.Gln2016Leu) c.3557A>T (p.Gln1186Leu) | |
10 | g.71798559G>A | CA470062183 | CDH23 | c.7035G>A (p.Gln2345=) c.968G>A (n.968G>A) c.632G>A (n.632G>A) c.7050G>A (p.Gln2350=) c.315G>A (p.Gln105=) n.571G>A c.7230G>A (p.Gln2410=) c.7164G>A (p.Gln2388=) c.7227G>A (p.Gln2409=) c.7224G>A (p.Gln2408=) c.7170G>A (p.Gln2390=) c.7140G>A (p.Gln2380=) c.7095G>A (p.Gln2365=) c.6690G>A (p.Gln2230=) c.6048G>A (p.Gln2016=) c.3558G>A (p.Gln1186=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.71798559G>C | CA5546234 | CDH23 | c.7035G>C (p.Gln2345His) c.968G>C (n.968G>C) c.632G>C (n.632G>C) c.7050G>C (p.Gln2350His) c.315G>C (p.Gln105His) n.571G>C c.7230G>C (p.Gln2410His) c.7164G>C (p.Gln2388His) c.7227G>C (p.Gln2409His) c.7224G>C (p.Gln2408His) c.7170G>C (p.Gln2390His) c.7140G>C (p.Gln2380His) c.7095G>C (p.Gln2365His) c.6690G>C (p.Gln2230His) c.6048G>C (p.Gln2016His) c.3558G>C (p.Gln1186His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71798559G= | CA1918878504 | CDH23 | c.7035G= (p.Gln2345=) c.968G= (n.968G=) c.632G= (n.632G=) c.7050G= (p.Gln2350=) c.315G= (p.Gln105=) n.571G= c.7230G= (p.Gln2410=) c.7164G= (p.Gln2388=) c.7227G= (p.Gln2409=) c.7224G= (p.Gln2408=) c.7170G= (p.Gln2390=) c.7140G= (p.Gln2380=) c.7095G= (p.Gln2365=) c.6690G= (p.Gln2230=) c.6048G= (p.Gln2016=) c.3558G= (p.Gln1186=) | |
10 | g.71798559G>T | CA377158468 | CDH23 | c.7035G>T (p.Gln2345His) c.968G>T (n.968G>T) c.632G>T (n.632G>T) c.7050G>T (p.Gln2350His) c.315G>T (p.Gln105His) n.571G>T c.7230G>T (p.Gln2410His) c.7164G>T (p.Gln2388His) c.7227G>T (p.Gln2409His) c.7224G>T (p.Gln2408His) c.7170G>T (p.Gln2390His) c.7140G>T (p.Gln2380His) c.7095G>T (p.Gln2365His) c.6690G>T (p.Gln2230His) c.6048G>T (p.Gln2016His) c.3558G>T (p.Gln1186His) | |
10 | g.71798560C>A | CA377158470 | CDH23 | c.7036C>A (p.Leu2346Met) c.969C>A (n.969C>A) c.633C>A (n.633C>A) c.7051C>A (p.Leu2351Met) c.316C>A (p.Leu106Met) n.572C>A c.7231C>A (p.Leu2411Met) c.7165C>A (p.Leu2389Met) c.7228C>A (p.Leu2410Met) c.7225C>A (p.Leu2409Met) c.7171C>A (p.Leu2391Met) c.7141C>A (p.Leu2381Met) c.7096C>A (p.Leu2366Met) c.6691C>A (p.Leu2231Met) c.6049C>A (p.Leu2017Met) c.3559C>A (p.Leu1187Met) | |
10 | g.71798560C= | CA1918878505 | CDH23 | c.7036C= (p.Leu2346=) c.969C= (n.969C=) c.633C= (n.633C=) c.7051C= (p.Leu2351=) c.316C= (p.Leu106=) n.572C= c.7231C= (p.Leu2411=) c.7165C= (p.Leu2389=) c.7228C= (p.Leu2410=) c.7225C= (p.Leu2409=) c.7171C= (p.Leu2391=) c.7141C= (p.Leu2381=) c.7096C= (p.Leu2366=) c.6691C= (p.Leu2231=) c.6049C= (p.Leu2017=) c.3559C= (p.Leu1187=) | |
10 | g.71798560C>G | CA377158472 | CDH23 | c.7036C>G (p.Leu2346Val) c.969C>G (n.969C>G) c.633C>G (n.633C>G) c.7051C>G (p.Leu2351Val) c.316C>G (p.Leu106Val) n.572C>G c.7231C>G (p.Leu2411Val) c.7165C>G (p.Leu2389Val) c.7228C>G (p.Leu2410Val) c.7225C>G (p.Leu2409Val) c.7171C>G (p.Leu2391Val) c.7141C>G (p.Leu2381Val) c.7096C>G (p.Leu2366Val) c.6691C>G (p.Leu2231Val) c.6049C>G (p.Leu2017Val) c.3559C>G (p.Leu1187Val) | |
10 | g.71798560C>T | CA5546235 | CDH23 | c.7036C>T (p.Leu2346=) c.969C>T (n.969C>T) c.633C>T (n.633C>T) c.7051C>T (p.Leu2351=) c.316C>T (p.Leu106=) n.572C>T c.7231C>T (p.Leu2411=) c.7165C>T (p.Leu2389=) c.7228C>T (p.Leu2410=) c.7225C>T (p.Leu2409=) c.7171C>T (p.Leu2391=) c.7141C>T (p.Leu2381=) c.7096C>T (p.Leu2366=) c.6691C>T (p.Leu2231=) c.6049C>T (p.Leu2017=) c.3559C>T (p.Leu1187=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71798561T>A | CA377158477 | CDH23 | c.7037T>A (p.Leu2346Gln) c.970T>A (n.970T>A) c.634T>A (n.634T>A) c.7052T>A (p.Leu2351Gln) c.317T>A (p.Leu106Gln) n.573T>A c.7232T>A (p.Leu2411Gln) c.7166T>A (p.Leu2389Gln) c.7229T>A (p.Leu2410Gln) c.7226T>A (p.Leu2409Gln) c.7172T>A (p.Leu2391Gln) c.7142T>A (p.Leu2381Gln) c.7097T>A (p.Leu2366Gln) c.6692T>A (p.Leu2231Gln) c.6050T>A (p.Leu2017Gln) c.3560T>A (p.Leu1187Gln) | |
10 | g.71798561T>C | CA377158478 | CDH23 | c.7037T>C (p.Leu2346Pro) c.970T>C (n.970T>C) c.634T>C (n.634T>C) c.7052T>C (p.Leu2351Pro) c.317T>C (p.Leu106Pro) n.573T>C c.7232T>C (p.Leu2411Pro) c.7166T>C (p.Leu2389Pro) c.7229T>C (p.Leu2410Pro) c.7226T>C (p.Leu2409Pro) c.7172T>C (p.Leu2391Pro) c.7142T>C (p.Leu2381Pro) c.7097T>C (p.Leu2366Pro) c.6692T>C (p.Leu2231Pro) c.6050T>C (p.Leu2017Pro) c.3560T>C (p.Leu1187Pro) | |
10 | g.71798561T>G | CA377158479 | CDH23 | c.7037T>G (p.Leu2346Arg) c.970T>G (n.970T>G) c.634T>G (n.634T>G) c.7052T>G (p.Leu2351Arg) c.317T>G (p.Leu106Arg) n.573T>G c.7232T>G (p.Leu2411Arg) c.7166T>G (p.Leu2389Arg) c.7229T>G (p.Leu2410Arg) c.7226T>G (p.Leu2409Arg) c.7172T>G (p.Leu2391Arg) c.7142T>G (p.Leu2381Arg) c.7097T>G (p.Leu2366Arg) c.6692T>G (p.Leu2231Arg) c.6050T>G (p.Leu2017Arg) c.3560T>G (p.Leu1187Arg) | |
10 | g.71798562G>A | CA5546236 | CDH23 | c.7038G>A (p.Leu2346=) c.971G>A (n.971G>A) c.635G>A (n.635G>A) c.7053G>A (p.Leu2351=) c.318G>A (p.Leu106=) n.574G>A c.7233G>A (p.Leu2411=) c.7167G>A (p.Leu2389=) c.7230G>A (p.Leu2410=) c.7227G>A (p.Leu2409=) c.7173G>A (p.Leu2391=) c.7143G>A (p.Leu2381=) c.7098G>A (p.Leu2366=) c.6693G>A (p.Leu2231=) c.6051G>A (p.Leu2017=) c.3561G>A (p.Leu1187=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71798562G>C | CA470062186 | CDH23 | c.7038G>C (p.Leu2346=) c.971G>C (n.971G>C) c.635G>C (n.635G>C) c.7053G>C (p.Leu2351=) c.318G>C (p.Leu106=) n.574G>C c.7233G>C (p.Leu2411=) c.7167G>C (p.Leu2389=) c.7230G>C (p.Leu2410=) c.7227G>C (p.Leu2409=) c.7173G>C (p.Leu2391=) c.7143G>C (p.Leu2381=) c.7098G>C (p.Leu2366=) c.6693G>C (p.Leu2231=) c.6051G>C (p.Leu2017=) c.3561G>C (p.Leu1187=) | |
10 | g.71798562G= | CA1918878506 | CDH23 | c.7038G= (p.Leu2346=) c.971G= (n.971G=) c.635G= (n.635G=) c.7053G= (p.Leu2351=) c.318G= (p.Leu106=) n.574G= c.7233G= (p.Leu2411=) c.7167G= (p.Leu2389=) c.7230G= (p.Leu2410=) c.7227G= (p.Leu2409=) c.7173G= (p.Leu2391=) c.7143G= (p.Leu2381=) c.7098G= (p.Leu2366=) c.6693G= (p.Leu2231=) c.6051G= (p.Leu2017=) c.3561G= (p.Leu1187=) | |
10 | g.71798562G>T | CA470062187 | CDH23 | c.7038G>T (p.Leu2346=) c.971G>T (n.971G>T) c.635G>T (n.635G>T) c.7053G>T (p.Leu2351=) c.318G>T (p.Leu106=) n.574G>T c.7233G>T (p.Leu2411=) c.7167G>T (p.Leu2389=) c.7230G>T (p.Leu2410=) c.7227G>T (p.Leu2409=) c.7173G>T (p.Leu2391=) c.7143G>T (p.Leu2381=) c.7098G>T (p.Leu2366=) c.6693G>T (p.Leu2231=) c.6051G>T (p.Leu2017=) c.3561G>T (p.Leu1187=) | |
10 | g.71798563G>A | CA377158480 | CDH23 | c.7039G>A (p.Glu2347Lys) c.972G>A (n.972G>A) c.636G>A (n.636G>A) c.7054G>A (p.Glu2352Lys) c.319G>A (p.Glu107Lys) n.575G>A c.7234G>A (p.Glu2412Lys) c.7168G>A (p.Glu2390Lys) c.7231G>A (p.Glu2411Lys) c.7228G>A (p.Glu2410Lys) c.7174G>A (p.Glu2392Lys) c.7144G>A (p.Glu2382Lys) c.7099G>A (p.Glu2367Lys) c.6694G>A (p.Glu2232Lys) c.6052G>A (p.Glu2018Lys) c.3562G>A (p.Glu1188Lys) | |
10 | g.71798563G>C | CA377158481 | CDH23 | c.7039G>C (p.Glu2347Gln) c.972G>C (n.972G>C) c.636G>C (n.636G>C) c.7054G>C (p.Glu2352Gln) c.319G>C (p.Glu107Gln) n.575G>C c.7234G>C (p.Glu2412Gln) c.7168G>C (p.Glu2390Gln) c.7231G>C (p.Glu2411Gln) c.7228G>C (p.Glu2410Gln) c.7174G>C (p.Glu2392Gln) c.7144G>C (p.Glu2382Gln) c.7099G>C (p.Glu2367Gln) c.6694G>C (p.Glu2232Gln) c.6052G>C (p.Glu2018Gln) c.3562G>C (p.Glu1188Gln) | |
10 | g.71798563G>T | CA377158485 | CDH23 | c.7039G>T (p.Glu2347Ter) c.972G>T (n.972G>T) c.636G>T (n.636G>T) c.7054G>T (p.Glu2352Ter) c.319G>T (p.Glu107Ter) n.575G>T c.7234G>T (p.Glu2412Ter) c.7168G>T (p.Glu2390Ter) c.7231G>T (p.Glu2411Ter) c.7228G>T (p.Glu2410Ter) c.7174G>T (p.Glu2392Ter) c.7144G>T (p.Glu2382Ter) c.7099G>T (p.Glu2367Ter) c.6694G>T (p.Glu2232Ter) c.6052G>T (p.Glu2018Ter) c.3562G>T (p.Glu1188Ter) | |
10 | g.71798564A>C | CA377158490 | CDH23 | c.7040A>C (p.Glu2347Ala) c.973A>C (n.973A>C) c.637A>C (n.637A>C) c.7055A>C (p.Glu2352Ala) c.320A>C (p.Glu107Ala) n.576A>C c.7235A>C (p.Glu2412Ala) c.7169A>C (p.Glu2390Ala) c.7232A>C (p.Glu2411Ala) c.7229A>C (p.Glu2410Ala) c.7175A>C (p.Glu2392Ala) c.7145A>C (p.Glu2382Ala) c.7100A>C (p.Glu2367Ala) c.6695A>C (p.Glu2232Ala) c.6053A>C (p.Glu2018Ala) c.3563A>C (p.Glu1188Ala) | |
10 | g.71798564A>G | CA377158486 | CDH23 | c.7040A>G (p.Glu2347Gly) c.973A>G (n.973A>G) c.637A>G (n.637A>G) c.7055A>G (p.Glu2352Gly) c.320A>G (p.Glu107Gly) n.576A>G c.7235A>G (p.Glu2412Gly) c.7169A>G (p.Glu2390Gly) c.7232A>G (p.Glu2411Gly) c.7229A>G (p.Glu2410Gly) c.7175A>G (p.Glu2392Gly) c.7145A>G (p.Glu2382Gly) c.7100A>G (p.Glu2367Gly) c.6695A>G (p.Glu2232Gly) c.6053A>G (p.Glu2018Gly) c.3563A>G (p.Glu1188Gly) | |
10 | g.71798564A>T | CA377158488 | CDH23 | c.7040A>T (p.Glu2347Val) c.973A>T (n.973A>T) c.637A>T (n.637A>T) c.7055A>T (p.Glu2352Val) c.320A>T (p.Glu107Val) n.576A>T c.7235A>T (p.Glu2412Val) c.7169A>T (p.Glu2390Val) c.7232A>T (p.Glu2411Val) c.7229A>T (p.Glu2410Val) c.7175A>T (p.Glu2392Val) c.7145A>T (p.Glu2382Val) c.7100A>T (p.Glu2367Val) c.6695A>T (p.Glu2232Val) c.6053A>T (p.Glu2018Val) c.3563A>T (p.Glu1188Val) | |
10 | g.71798565G>A | CA470062188 | CDH23 | c.7041G>A (p.Glu2347=) c.974G>A (n.974G>A) c.638G>A (n.638G>A) c.7056G>A (p.Glu2352=) c.321G>A (p.Glu107=) n.577G>A c.7236G>A (p.Glu2412=) c.7170G>A (p.Glu2390=) c.7233G>A (p.Glu2411=) c.7230G>A (p.Glu2410=) c.7176G>A (p.Glu2392=) c.7146G>A (p.Glu2382=) c.7101G>A (p.Glu2367=) c.6696G>A (p.Glu2232=) c.6054G>A (p.Glu2018=) c.3564G>A (p.Glu1188=) | ClinVar gnomAD v4 |
10 | g.71798565G>C | CA377158492 | CDH23 | c.7041G>C (p.Glu2347Asp) c.974G>C (n.974G>C) c.638G>C (n.638G>C) c.7056G>C (p.Glu2352Asp) c.321G>C (p.Glu107Asp) n.577G>C c.7236G>C (p.Glu2412Asp) c.7170G>C (p.Glu2390Asp) c.7233G>C (p.Glu2411Asp) c.7230G>C (p.Glu2410Asp) c.7176G>C (p.Glu2392Asp) c.7146G>C (p.Glu2382Asp) c.7101G>C (p.Glu2367Asp) c.6696G>C (p.Glu2232Asp) c.6054G>C (p.Glu2018Asp) c.3564G>C (p.Glu1188Asp) | |
10 | g.71798565G>T | CA377158493 | CDH23 | c.7041G>T (p.Glu2347Asp) c.974G>T (n.974G>T) c.638G>T (n.638G>T) c.7056G>T (p.Glu2352Asp) c.321G>T (p.Glu107Asp) n.577G>T c.7236G>T (p.Glu2412Asp) c.7170G>T (p.Glu2390Asp) c.7233G>T (p.Glu2411Asp) c.7230G>T (p.Glu2410Asp) c.7176G>T (p.Glu2392Asp) c.7146G>T (p.Glu2382Asp) c.7101G>T (p.Glu2367Asp) c.6696G>T (p.Glu2232Asp) c.6054G>T (p.Glu2018Asp) c.3564G>T (p.Glu1188Asp) | |
10 | g.71798566G>A | CA377158495 | CDH23 | c.7042G>A (p.Asp2348Asn) c.975G>A (n.975G>A) c.639G>A (n.639G>A) c.7057G>A (p.Asp2353Asn) c.322G>A (p.Asp108Asn) n.578G>A c.7237G>A (p.Asp2413Asn) c.7171G>A (p.Asp2391Asn) c.7234G>A (p.Asp2412Asn) c.7231G>A (p.Asp2411Asn) c.7177G>A (p.Asp2393Asn) c.7147G>A (p.Asp2383Asn) c.7102G>A (p.Asp2368Asn) c.6697G>A (p.Asp2233Asn) c.6055G>A (p.Asp2019Asn) c.3565G>A (p.Asp1189Asn) | |
10 | g.71798566G>C | CA377158496 | CDH23 | c.7042G>C (p.Asp2348His) c.975G>C (n.975G>C) c.639G>C (n.639G>C) c.7057G>C (p.Asp2353His) c.322G>C (p.Asp108His) n.578G>C c.7237G>C (p.Asp2413His) c.7171G>C (p.Asp2391His) c.7234G>C (p.Asp2412His) c.7231G>C (p.Asp2411His) c.7177G>C (p.Asp2393His) c.7147G>C (p.Asp2383His) c.7102G>C (p.Asp2368His) c.6697G>C (p.Asp2233His) c.6055G>C (p.Asp2019His) c.3565G>C (p.Asp1189His) | |
10 | g.71798566G>T | CA377158497 | CDH23 | c.7042G>T (p.Asp2348Tyr) c.975G>T (n.975G>T) c.639G>T (n.639G>T) c.7057G>T (p.Asp2353Tyr) c.322G>T (p.Asp108Tyr) n.578G>T c.7237G>T (p.Asp2413Tyr) c.7171G>T (p.Asp2391Tyr) c.7234G>T (p.Asp2412Tyr) c.7231G>T (p.Asp2411Tyr) c.7177G>T (p.Asp2393Tyr) c.7147G>T (p.Asp2383Tyr) c.7102G>T (p.Asp2368Tyr) c.6697G>T (p.Asp2233Tyr) c.6055G>T (p.Asp2019Tyr) c.3565G>T (p.Asp1189Tyr) | |
10 | g.71798567A>C | CA377158500 | CDH23 | c.7043A>C (p.Asp2348Ala) c.976A>C (n.976A>C) c.640A>C (n.640A>C) c.7058A>C (p.Asp2353Ala) c.323A>C (p.Asp108Ala) n.579A>C c.7238A>C (p.Asp2413Ala) c.7172A>C (p.Asp2391Ala) c.7235A>C (p.Asp2412Ala) c.7232A>C (p.Asp2411Ala) c.7178A>C (p.Asp2393Ala) c.7148A>C (p.Asp2383Ala) c.7103A>C (p.Asp2368Ala) c.6698A>C (p.Asp2233Ala) c.6056A>C (p.Asp2019Ala) c.3566A>C (p.Asp1189Ala) | |
10 | g.71798567A>G | CA377158503 | CDH23 | c.7043A>G (p.Asp2348Gly) c.976A>G (n.976A>G) c.640A>G (n.640A>G) c.7058A>G (p.Asp2353Gly) c.323A>G (p.Asp108Gly) n.579A>G c.7238A>G (p.Asp2413Gly) c.7172A>G (p.Asp2391Gly) c.7235A>G (p.Asp2412Gly) c.7232A>G (p.Asp2411Gly) c.7178A>G (p.Asp2393Gly) c.7148A>G (p.Asp2383Gly) c.7103A>G (p.Asp2368Gly) c.6698A>G (p.Asp2233Gly) c.6056A>G (p.Asp2019Gly) c.3566A>G (p.Asp1189Gly) | |
10 | g.71798567A>T | CA377158502 | CDH23 | c.7043A>T (p.Asp2348Val) c.976A>T (n.976A>T) c.640A>T (n.640A>T) c.7058A>T (p.Asp2353Val) c.323A>T (p.Asp108Val) n.579A>T c.7238A>T (p.Asp2413Val) c.7172A>T (p.Asp2391Val) c.7235A>T (p.Asp2412Val) c.7232A>T (p.Asp2411Val) c.7178A>T (p.Asp2393Val) c.7148A>T (p.Asp2383Val) c.7103A>T (p.Asp2368Val) c.6698A>T (p.Asp2233Val) c.6056A>T (p.Asp2019Val) c.3566A>T (p.Asp1189Val) | |
10 | g.71798568C>A | CA377158504 | CDH23 | c.7044C>A (p.Asp2348Glu) c.977C>A (n.977C>A) c.641C>A (n.641C>A) c.7059C>A (p.Asp2353Glu) c.324C>A (p.Asp108Glu) n.580C>A c.7239C>A (p.Asp2413Glu) c.7173C>A (p.Asp2391Glu) c.7236C>A (p.Asp2412Glu) c.7233C>A (p.Asp2411Glu) c.7179C>A (p.Asp2393Glu) c.7149C>A (p.Asp2383Glu) c.7104C>A (p.Asp2368Glu) c.6699C>A (p.Asp2233Glu) c.6057C>A (p.Asp2019Glu) c.3567C>A (p.Asp1189Glu) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71798568C= | CA1918878507 | CDH23 | c.7044C= (p.Asp2348=) c.977C= (n.977C=) c.641C= (n.641C=) c.7059C= (p.Asp2353=) c.324C= (p.Asp108=) n.580C= c.7239C= (p.Asp2413=) c.7173C= (p.Asp2391=) c.7236C= (p.Asp2412=) c.7233C= (p.Asp2411=) c.7179C= (p.Asp2393=) c.7149C= (p.Asp2383=) c.7104C= (p.Asp2368=) c.6699C= (p.Asp2233=) c.6057C= (p.Asp2019=) c.3567C= (p.Asp1189=) | |
10 | g.71798568C>G | CA377158505 | CDH23 | c.7044C>G (p.Asp2348Glu) c.977C>G (n.977C>G) c.641C>G (n.641C>G) c.7059C>G (p.Asp2353Glu) c.324C>G (p.Asp108Glu) n.580C>G c.7239C>G (p.Asp2413Glu) c.7173C>G (p.Asp2391Glu) c.7236C>G (p.Asp2412Glu) c.7233C>G (p.Asp2411Glu) c.7179C>G (p.Asp2393Glu) c.7149C>G (p.Asp2383Glu) c.7104C>G (p.Asp2368Glu) c.6699C>G (p.Asp2233Glu) c.6057C>G (p.Asp2019Glu) c.3567C>G (p.Asp1189Glu) | |
10 | g.71798568C>T | CA470062190 | CDH23 | c.7044C>T (p.Asp2348=) c.977C>T (n.977C>T) c.641C>T (n.641C>T) c.7059C>T (p.Asp2353=) c.324C>T (p.Asp108=) n.580C>T c.7239C>T (p.Asp2413=) c.7173C>T (p.Asp2391=) c.7236C>T (p.Asp2412=) c.7233C>T (p.Asp2411=) c.7179C>T (p.Asp2393=) c.7149C>T (p.Asp2383=) c.7104C>T (p.Asp2368=) c.6699C>T (p.Asp2233=) c.6057C>T (p.Asp2019=) c.3567C>T (p.Asp1189=) | |
10 | g.71798574_71798670del | CA2788486896 | CDH23 | c.7050_7054+92del c.983_987+92del c.647_651+92del c.7065_7069+92del c.330_334+92del n.586_590+92del c.7245_7249+92del c.7179_7183+92del c.7242_7246+92del c.7239_7243+92del c.7185_7189+92del c.7155_7159+92del c.7110_7114+92del c.6705_6709+92del c.6063_6067+92del c.3573_3577+92del | |
10 | g.71798569T>A | CA377158506 | CDH23 | c.7045T>A (p.Ser2349Thr) c.978T>A (n.978T>A) c.642T>A (n.642T>A) c.7060T>A (p.Ser2354Thr) c.325T>A (p.Ser109Thr) n.581T>A c.7240T>A (p.Ser2414Thr) c.7174T>A (p.Ser2392Thr) c.7237T>A (p.Ser2413Thr) c.7234T>A (p.Ser2412Thr) c.7180T>A (p.Ser2394Thr) c.7150T>A (p.Ser2384Thr) c.7105T>A (p.Ser2369Thr) c.6700T>A (p.Ser2234Thr) c.6058T>A (p.Ser2020Thr) c.3568T>A (p.Ser1190Thr) | |
10 | g.71798569T>C | CA377158507 | CDH23 | c.7045T>C (p.Ser2349Pro) c.978T>C (n.978T>C) c.642T>C (n.642T>C) c.7060T>C (p.Ser2354Pro) c.325T>C (p.Ser109Pro) n.581T>C c.7240T>C (p.Ser2414Pro) c.7174T>C (p.Ser2392Pro) c.7237T>C (p.Ser2413Pro) c.7234T>C (p.Ser2412Pro) c.7180T>C (p.Ser2394Pro) c.7150T>C (p.Ser2384Pro) c.7105T>C (p.Ser2369Pro) c.6700T>C (p.Ser2234Pro) c.6058T>C (p.Ser2020Pro) c.3568T>C (p.Ser1190Pro) | |
10 | g.71798569T>G | CA377158508 | CDH23 | c.7045T>G (p.Ser2349Ala) c.978T>G (n.978T>G) c.642T>G (n.642T>G) c.7060T>G (p.Ser2354Ala) c.325T>G (p.Ser109Ala) n.581T>G c.7240T>G (p.Ser2414Ala) c.7174T>G (p.Ser2392Ala) c.7237T>G (p.Ser2413Ala) c.7234T>G (p.Ser2412Ala) c.7180T>G (p.Ser2394Ala) c.7150T>G (p.Ser2384Ala) c.7105T>G (p.Ser2369Ala) c.6700T>G (p.Ser2234Ala) c.6058T>G (p.Ser2020Ala) c.3568T>G (p.Ser1190Ala) | |
10 | g.71798569dup | CA1918878508 | CDH23 | c.7045dup (p.Ser2349PhefsTer?) c.978dup (n.978dup) c.642dup (n.642dup) c.7060dup (p.Ser2354PhefsTer?) c.325dup (p.Ser109PhefsTer?) n.581dup c.7240dup (p.Ser2414PhefsTer?) c.7174dup (p.Ser2392PhefsTer?) c.7237dup (p.Ser2413PhefsTer?) c.7234dup (p.Ser2412PhefsTer?) c.7180dup (p.Ser2394PhefsTer?) c.7150dup (p.Ser2384PhefsTer?) c.7105dup (p.Ser2369PhefsTer?) c.6700dup (p.Ser2234PhefsTer?) c.6058dup (p.Ser2020PhefsTer?) c.3568dup (p.Ser1190PhefsTer?) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71798570C>A | CA377158510 | CDH23 | c.7046C>A (p.Ser2349Tyr) c.979C>A (n.979C>A) c.643C>A (n.643C>A) c.7061C>A (p.Ser2354Tyr) c.326C>A (p.Ser109Tyr) n.582C>A c.7241C>A (p.Ser2414Tyr) c.7175C>A (p.Ser2392Tyr) c.7238C>A (p.Ser2413Tyr) c.7235C>A (p.Ser2412Tyr) c.7181C>A (p.Ser2394Tyr) c.7151C>A (p.Ser2384Tyr) c.7106C>A (p.Ser2369Tyr) c.6701C>A (p.Ser2234Tyr) c.6059C>A (p.Ser2020Tyr) c.3569C>A (p.Ser1190Tyr) | ClinVar |
10 | g.71798570C>G | CA377158512 | CDH23 | c.7046C>G (p.Ser2349Cys) c.979C>G (n.979C>G) c.643C>G (n.643C>G) c.7061C>G (p.Ser2354Cys) c.326C>G (p.Ser109Cys) n.582C>G c.7241C>G (p.Ser2414Cys) c.7175C>G (p.Ser2392Cys) c.7238C>G (p.Ser2413Cys) c.7235C>G (p.Ser2412Cys) c.7181C>G (p.Ser2394Cys) c.7151C>G (p.Ser2384Cys) c.7106C>G (p.Ser2369Cys) c.6701C>G (p.Ser2234Cys) c.6059C>G (p.Ser2020Cys) c.3569C>G (p.Ser1190Cys) | |
10 | g.71798570C>T | CA377158513 | CDH23 | c.7046C>T (p.Ser2349Phe) c.979C>T (n.979C>T) c.643C>T (n.643C>T) c.7061C>T (p.Ser2354Phe) c.326C>T (p.Ser109Phe) n.582C>T c.7241C>T (p.Ser2414Phe) c.7175C>T (p.Ser2392Phe) c.7238C>T (p.Ser2413Phe) c.7235C>T (p.Ser2412Phe) c.7181C>T (p.Ser2394Phe) c.7151C>T (p.Ser2384Phe) c.7106C>T (p.Ser2369Phe) c.6701C>T (p.Ser2234Phe) c.6059C>T (p.Ser2020Phe) c.3569C>T (p.Ser1190Phe) | |
10 | g.71798571C>A | CA470062191 | CDH23 | c.7047C>A (p.Ser2349=) c.980C>A (n.980C>A) c.644C>A (n.644C>A) c.7062C>A (p.Ser2354=) c.327C>A (p.Ser109=) n.583C>A c.7242C>A (p.Ser2414=) c.7176C>A (p.Ser2392=) c.7239C>A (p.Ser2413=) c.7236C>A (p.Ser2412=) c.7182C>A (p.Ser2394=) c.7152C>A (p.Ser2384=) c.7107C>A (p.Ser2369=) c.6702C>A (p.Ser2234=) c.6060C>A (p.Ser2020=) c.3570C>A (p.Ser1190=) | |
10 | g.71798571C>G | CA470062192 | CDH23 | c.7047C>G (p.Ser2349=) c.980C>G (n.980C>G) c.644C>G (n.644C>G) c.7062C>G (p.Ser2354=) c.327C>G (p.Ser109=) n.583C>G c.7242C>G (p.Ser2414=) c.7176C>G (p.Ser2392=) c.7239C>G (p.Ser2413=) c.7236C>G (p.Ser2412=) c.7182C>G (p.Ser2394=) c.7152C>G (p.Ser2384=) c.7107C>G (p.Ser2369=) c.6702C>G (p.Ser2234=) c.6060C>G (p.Ser2020=) c.3570C>G (p.Ser1190=) | |
10 | g.71798571C>T | CA470062193 | CDH23 | c.7047C>T (p.Ser2349=) c.980C>T (n.980C>T) c.644C>T (n.644C>T) c.7062C>T (p.Ser2354=) c.327C>T (p.Ser109=) n.583C>T c.7242C>T (p.Ser2414=) c.7176C>T (p.Ser2392=) c.7239C>T (p.Ser2413=) c.7236C>T (p.Ser2412=) c.7182C>T (p.Ser2394=) c.7152C>T (p.Ser2384=) c.7107C>T (p.Ser2369=) c.6702C>T (p.Ser2234=) c.6060C>T (p.Ser2020=) c.3570C>T (p.Ser1190=) | |
10 | g.71798572T>A | CA377158516 | CDH23 | c.7048T>A (p.Ser2350Thr) c.981T>A (n.981T>A) c.645T>A (n.645T>A) c.7063T>A (p.Ser2355Thr) c.328T>A (p.Ser110Thr) n.584T>A c.7243T>A (p.Ser2415Thr) c.7177T>A (p.Ser2393Thr) c.7240T>A (p.Ser2414Thr) c.7237T>A (p.Ser2413Thr) c.7183T>A (p.Ser2395Thr) c.7153T>A (p.Ser2385Thr) c.7108T>A (p.Ser2370Thr) c.6703T>A (p.Ser2235Thr) c.6061T>A (p.Ser2021Thr) c.3571T>A (p.Ser1191Thr) | COSMIC |
10 | g.71798572T>C | CA377158518 | CDH23 | c.7048T>C (p.Ser2350Pro) c.981T>C (n.981T>C) c.645T>C (n.645T>C) c.7063T>C (p.Ser2355Pro) c.328T>C (p.Ser110Pro) n.584T>C c.7243T>C (p.Ser2415Pro) c.7177T>C (p.Ser2393Pro) c.7240T>C (p.Ser2414Pro) c.7237T>C (p.Ser2413Pro) c.7183T>C (p.Ser2395Pro) c.7153T>C (p.Ser2385Pro) c.7108T>C (p.Ser2370Pro) c.6703T>C (p.Ser2235Pro) c.6061T>C (p.Ser2021Pro) c.3571T>C (p.Ser1191Pro) | |
10 | g.71798572T>G | CA377158519 | CDH23 | c.7048T>G (p.Ser2350Ala) c.981T>G (n.981T>G) c.645T>G (n.645T>G) c.7063T>G (p.Ser2355Ala) c.328T>G (p.Ser110Ala) n.584T>G c.7243T>G (p.Ser2415Ala) c.7177T>G (p.Ser2393Ala) c.7240T>G (p.Ser2414Ala) c.7237T>G (p.Ser2413Ala) c.7183T>G (p.Ser2395Ala) c.7153T>G (p.Ser2385Ala) c.7108T>G (p.Ser2370Ala) c.6703T>G (p.Ser2235Ala) c.6061T>G (p.Ser2021Ala) c.3571T>G (p.Ser1191Ala) | |
10 | g.71798573C>A | CA377158522 | CDH23 | c.7049C>A (p.Ser2350Ter) c.982C>A (n.982C>A) c.646C>A (n.646C>A) c.7064C>A (p.Ser2355Ter) c.329C>A (p.Ser110Ter) n.585C>A c.7244C>A (p.Ser2415Ter) c.7178C>A (p.Ser2393Ter) c.7241C>A (p.Ser2414Ter) c.7238C>A (p.Ser2413Ter) c.7184C>A (p.Ser2395Ter) c.7154C>A (p.Ser2385Ter) c.7109C>A (p.Ser2370Ter) c.6704C>A (p.Ser2235Ter) c.6062C>A (p.Ser2021Ter) c.3572C>A (p.Ser1191Ter) | gnomAD v4 |
10 | g.71798573C= | CA1918878509 | CDH23 | c.7049C= (p.Ser2350=) c.982C= (n.982C=) c.646C= (n.646C=) c.7064C= (p.Ser2355=) c.329C= (p.Ser110=) n.585C= c.7244C= (p.Ser2415=) c.7178C= (p.Ser2393=) c.7241C= (p.Ser2414=) c.7238C= (p.Ser2413=) c.7184C= (p.Ser2395=) c.7154C= (p.Ser2385=) c.7109C= (p.Ser2370=) c.6704C= (p.Ser2235=) c.6062C= (p.Ser2021=) c.3572C= (p.Ser1191=) | |
10 | g.71798573C>G | CA377158526 | CDH23 | c.7049C>G (p.Ser2350Trp) c.982C>G (n.982C>G) c.646C>G (n.646C>G) c.7064C>G (p.Ser2355Trp) c.329C>G (p.Ser110Trp) n.585C>G c.7244C>G (p.Ser2415Trp) c.7178C>G (p.Ser2393Trp) c.7241C>G (p.Ser2414Trp) c.7238C>G (p.Ser2413Trp) c.7184C>G (p.Ser2395Trp) c.7154C>G (p.Ser2385Trp) c.7109C>G (p.Ser2370Trp) c.6704C>G (p.Ser2235Trp) c.6062C>G (p.Ser2021Trp) c.3572C>G (p.Ser1191Trp) | dbSNP |
10 | g.71798573C>T | CA223630 | CDH23 | c.7049C>T (p.Ser2350Leu) c.982C>T (n.982C>T) c.646C>T (n.646C>T) c.7064C>T (p.Ser2355Leu) c.329C>T (p.Ser110Leu) n.585C>T c.7244C>T (p.Ser2415Leu) c.7178C>T (p.Ser2393Leu) c.7241C>T (p.Ser2414Leu) c.7238C>T (p.Ser2413Leu) c.7184C>T (p.Ser2395Leu) c.7154C>T (p.Ser2385Leu) c.7109C>T (p.Ser2370Leu) c.6704C>T (p.Ser2235Leu) c.6062C>T (p.Ser2021Leu) c.3572C>T (p.Ser1191Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71798574G>A | CA5546237 | CDH23 | c.7050G>A (p.Ser2350=) c.983G>A (n.983G>A) c.647G>A (n.647G>A) c.7065G>A (p.Ser2355=) c.330G>A (p.Ser110=) n.586G>A c.7245G>A (p.Ser2415=) c.7179G>A (p.Ser2393=) c.7242G>A (p.Ser2414=) c.7239G>A (p.Ser2413=) c.7185G>A (p.Ser2395=) c.7155G>A (p.Ser2385=) c.7110G>A (p.Ser2370=) c.6705G>A (p.Ser2235=) c.6063G>A (p.Ser2021=) c.3573G>A (p.Ser1191=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.71798574G>C | CA470062197 | CDH23 | c.7050G>C (p.Ser2350=) c.983G>C (n.983G>C) c.647G>C (n.647G>C) c.7065G>C (p.Ser2355=) c.330G>C (p.Ser110=) n.586G>C c.7245G>C (p.Ser2415=) c.7179G>C (p.Ser2393=) c.7242G>C (p.Ser2414=) c.7239G>C (p.Ser2413=) c.7185G>C (p.Ser2395=) c.7155G>C (p.Ser2385=) c.7110G>C (p.Ser2370=) c.6705G>C (p.Ser2235=) c.6063G>C (p.Ser2021=) c.3573G>C (p.Ser1191=) | |
10 | g.71798574G= | CA1918878510 | CDH23 | c.7050G= (p.Ser2350=) c.983G= (n.983G=) c.647G= (n.647G=) c.7065G= (p.Ser2355=) c.330G= (p.Ser110=) n.586G= c.7245G= (p.Ser2415=) c.7179G= (p.Ser2393=) c.7242G= (p.Ser2414=) c.7239G= (p.Ser2413=) c.7185G= (p.Ser2395=) c.7155G= (p.Ser2385=) c.7110G= (p.Ser2370=) c.6705G= (p.Ser2235=) c.6063G= (p.Ser2021=) c.3573G= (p.Ser1191=) | |
10 | g.71798574G>T | CA470062196 | CDH23 | c.7050G>T (p.Ser2350=) c.983G>T (n.983G>T) c.647G>T (n.647G>T) c.7065G>T (p.Ser2355=) c.330G>T (p.Ser110=) n.586G>T c.7245G>T (p.Ser2415=) c.7179G>T (p.Ser2393=) c.7242G>T (p.Ser2414=) c.7239G>T (p.Ser2413=) c.7185G>T (p.Ser2395=) c.7155G>T (p.Ser2385=) c.7110G>T (p.Ser2370=) c.6705G>T (p.Ser2235=) c.6063G>T (p.Ser2021=) c.3573G>T (p.Ser1191=) | |
10 | g.71798575_71798579dup | CA2695212112 | CDH23 | c.7051_7054+1dup c.984_987+1dup c.648_651+1dup c.7066_7069+1dup c.331_334+1dup n.587_590+1dup c.7246_7249+1dup c.7180_7183+1dup c.7243_7246+1dup c.7240_7243+1dup c.7186_7189+1dup c.7156_7159+1dup c.7111_7114+1dup c.6706_6709+1dup c.6064_6067+1dup c.3574_3577+1dup | |
10 | g.71798575G>A | CA377158528 | CDH23 | c.7051G>A (p.Ala2351Thr) c.984G>A (n.984G>A) c.648G>A (n.648G>A) c.7066G>A (p.Ala2356Thr) c.331G>A (p.Ala111Thr) n.587G>A c.7246G>A (p.Ala2416Thr) c.7180G>A (p.Ala2394Thr) c.7243G>A (p.Ala2415Thr) c.7240G>A (p.Ala2414Thr) c.7186G>A (p.Ala2396Thr) c.7156G>A (p.Ala2386Thr) c.7111G>A (p.Ala2371Thr) c.6706G>A (p.Ala2236Thr) c.6064G>A (p.Ala2022Thr) c.3574G>A (p.Ala1192Thr) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71798575G>C | CA377158530 | CDH23 | c.7051G>C (p.Ala2351Pro) c.984G>C (n.984G>C) c.648G>C (n.648G>C) c.7066G>C (p.Ala2356Pro) c.331G>C (p.Ala111Pro) n.587G>C c.7246G>C (p.Ala2416Pro) c.7180G>C (p.Ala2394Pro) c.7243G>C (p.Ala2415Pro) c.7240G>C (p.Ala2414Pro) c.7186G>C (p.Ala2396Pro) c.7156G>C (p.Ala2386Pro) c.7111G>C (p.Ala2371Pro) c.6706G>C (p.Ala2236Pro) c.6064G>C (p.Ala2022Pro) c.3574G>C (p.Ala1192Pro) | |
10 | g.71798575G= | CA1918878511 | CDH23 | c.7051G= (p.Ala2351=) c.984G= (n.984G=) c.648G= (n.648G=) c.7066G= (p.Ala2356=) c.331G= (p.Ala111=) n.587G= c.7246G= (p.Ala2416=) c.7180G= (p.Ala2394=) c.7243G= (p.Ala2415=) c.7240G= (p.Ala2414=) c.7186G= (p.Ala2396=) c.7156G= (p.Ala2386=) c.7111G= (p.Ala2371=) c.6706G= (p.Ala2236=) c.6064G= (p.Ala2022=) c.3574G= (p.Ala1192=) | |
10 | g.71798575G>T | CA377158531 | CDH23 | c.7051G>T (p.Ala2351Ser) c.984G>T (n.984G>T) c.648G>T (n.648G>T) c.7066G>T (p.Ala2356Ser) c.331G>T (p.Ala111Ser) n.587G>T c.7246G>T (p.Ala2416Ser) c.7180G>T (p.Ala2394Ser) c.7243G>T (p.Ala2415Ser) c.7240G>T (p.Ala2414Ser) c.7186G>T (p.Ala2396Ser) c.7156G>T (p.Ala2386Ser) c.7111G>T (p.Ala2371Ser) c.6706G>T (p.Ala2236Ser) c.6064G>T (p.Ala2022Ser) c.3574G>T (p.Ala1192Ser) | ClinVar dbSNP |
10 | g.71798576C>A | CA377158533 | CDH23 | c.7052C>A (p.Ala2351Glu) c.985C>A (n.985C>A) c.649C>A (n.649C>A) c.7067C>A (p.Ala2356Glu) c.332C>A (p.Ala111Glu) n.588C>A c.7247C>A (p.Ala2416Glu) c.7181C>A (p.Ala2394Glu) c.7244C>A (p.Ala2415Glu) c.7241C>A (p.Ala2414Glu) c.7187C>A (p.Ala2396Glu) c.7157C>A (p.Ala2386Glu) c.7112C>A (p.Ala2371Glu) c.6707C>A (p.Ala2236Glu) c.6065C>A (p.Ala2022Glu) c.3575C>A (p.Ala1192Glu) | gnomAD v4 |
10 | g.71798576C= | CA1918878512 | CDH23 | c.7052C= (p.Ala2351=) c.985C= (n.985C=) c.649C= (n.649C=) c.7067C= (p.Ala2356=) c.332C= (p.Ala111=) n.588C= c.7247C= (p.Ala2416=) c.7181C= (p.Ala2394=) c.7244C= (p.Ala2415=) c.7241C= (p.Ala2414=) c.7187C= (p.Ala2396=) c.7157C= (p.Ala2386=) c.7112C= (p.Ala2371=) c.6707C= (p.Ala2236=) c.6065C= (p.Ala2022=) c.3575C= (p.Ala1192=) | |
10 | g.71798576C>G | CA377158534 | CDH23 | c.7052C>G (p.Ala2351Gly) c.985C>G (n.985C>G) c.649C>G (n.649C>G) c.7067C>G (p.Ala2356Gly) c.332C>G (p.Ala111Gly) n.588C>G c.7247C>G (p.Ala2416Gly) c.7181C>G (p.Ala2394Gly) c.7244C>G (p.Ala2415Gly) c.7241C>G (p.Ala2414Gly) c.7187C>G (p.Ala2396Gly) c.7157C>G (p.Ala2386Gly) c.7112C>G (p.Ala2371Gly) c.6707C>G (p.Ala2236Gly) c.6065C>G (p.Ala2022Gly) c.3575C>G (p.Ala1192Gly) | |
10 | g.71798576C>T | CA5546238 | CDH23 | c.7052C>T (p.Ala2351Val) c.985C>T (n.985C>T) c.649C>T (n.649C>T) c.7067C>T (p.Ala2356Val) c.332C>T (p.Ala111Val) n.588C>T c.7247C>T (p.Ala2416Val) c.7181C>T (p.Ala2394Val) c.7244C>T (p.Ala2415Val) c.7241C>T (p.Ala2414Val) c.7187C>T (p.Ala2396Val) c.7157C>T (p.Ala2386Val) c.7112C>T (p.Ala2371Val) c.6707C>T (p.Ala2236Val) c.6065C>T (p.Ala2022Val) c.3575C>T (p.Ala1192Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71798577A>C | CA470062198 | CDH23 | c.7053A>C (p.Ala2351=) c.986A>C (n.986A>C) c.650A>C (n.650A>C) c.7068A>C (p.Ala2356=) c.333A>C (p.Ala111=) n.589A>C c.7248A>C (p.Ala2416=) c.7182A>C (p.Ala2394=) c.7245A>C (p.Ala2415=) c.7242A>C (p.Ala2414=) c.7188A>C (p.Ala2396=) c.7158A>C (p.Ala2386=) c.7113A>C (p.Ala2371=) c.6708A>C (p.Ala2236=) c.6066A>C (p.Ala2022=) c.3576A>C (p.Ala1192=) | gnomAD v4 |
10 | g.71798577A>G | CA470062199 | CDH23 | c.7053A>G (p.Ala2351=) c.986A>G (n.986A>G) c.650A>G (n.650A>G) c.7068A>G (p.Ala2356=) c.333A>G (p.Ala111=) n.589A>G c.7248A>G (p.Ala2416=) c.7182A>G (p.Ala2394=) c.7245A>G (p.Ala2415=) c.7242A>G (p.Ala2414=) c.7188A>G (p.Ala2396=) c.7158A>G (p.Ala2386=) c.7113A>G (p.Ala2371=) c.6708A>G (p.Ala2236=) c.6066A>G (p.Ala2022=) c.3576A>G (p.Ala1192=) | |
10 | g.71798577A>T | CA470062200 | CDH23 | c.7053A>T (p.Ala2351=) c.986A>T (n.986A>T) c.650A>T (n.650A>T) c.7068A>T (p.Ala2356=) c.333A>T (p.Ala111=) n.589A>T c.7248A>T (p.Ala2416=) c.7182A>T (p.Ala2394=) c.7245A>T (p.Ala2415=) c.7242A>T (p.Ala2414=) c.7188A>T (p.Ala2396=) c.7158A>T (p.Ala2386=) c.7113A>T (p.Ala2371=) c.6708A>T (p.Ala2236=) c.6066A>T (p.Ala2022=) c.3576A>T (p.Ala1192=) | |
10 | g.71798578G>A | CA377158537 | CDH23 | c.7054G>A (p.Gly2352Arg) c.987G>A (n.987G>A) c.651G>A (n.651G>A) c.7069G>A (p.Gly2357Arg) c.334G>A (p.Gly112Arg) n.590G>A c.7249G>A (p.Gly2417Arg) c.7183G>A (p.Gly2395Arg) c.7246G>A (p.Gly2416Arg) c.7243G>A (p.Gly2415Arg) c.7189G>A (p.Gly2397Arg) c.7159G>A (p.Gly2387Arg) c.7114G>A (p.Gly2372Arg) c.6709G>A (p.Gly2237Arg) c.6067G>A (p.Gly2023Arg) c.3577G>A (p.Gly1193Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71798578G>C | CA377158540 | CDH23 | c.7054G>C (p.Gly2352Arg) c.987G>C (n.987G>C) c.651G>C (n.651G>C) c.7069G>C (p.Gly2357Arg) c.334G>C (p.Gly112Arg) n.590G>C c.7249G>C (p.Gly2417Arg) c.7183G>C (p.Gly2395Arg) c.7246G>C (p.Gly2416Arg) c.7243G>C (p.Gly2415Arg) c.7189G>C (p.Gly2397Arg) c.7159G>C (p.Gly2387Arg) c.7114G>C (p.Gly2372Arg) c.6709G>C (p.Gly2237Arg) c.6067G>C (p.Gly2023Arg) c.3577G>C (p.Gly1193Arg) | |
10 | g.71798578G= | CA1918878513 | CDH23 | c.7054G= (p.Gly2352=) c.987G= (n.987G=) c.651G= (n.651G=) c.7069G= (p.Gly2357=) c.334G= (p.Gly112=) n.590G= c.7249G= (p.Gly2417=) c.7183G= (p.Gly2395=) c.7246G= (p.Gly2416=) c.7243G= (p.Gly2415=) c.7189G= (p.Gly2397=) c.7159G= (p.Gly2387=) c.7114G= (p.Gly2372=) c.6709G= (p.Gly2237=) c.6067G= (p.Gly2023=) c.3577G= (p.Gly1193=) | |
10 | g.71798578G>T | CA377158541 | CDH23 | c.7054G>T (p.Gly2352Trp) c.987G>T (n.987G>T) c.651G>T (n.651G>T) c.7069G>T (p.Gly2357Trp) c.334G>T (p.Gly112Trp) n.590G>T c.7249G>T (p.Gly2417Trp) c.7183G>T (p.Gly2395Trp) c.7246G>T (p.Gly2416Trp) c.7243G>T (p.Gly2415Trp) c.7189G>T (p.Gly2397Trp) c.7159G>T (p.Gly2387Trp) c.7114G>T (p.Gly2372Trp) c.6709G>T (p.Gly2237Trp) c.6067G>T (p.Gly2023Trp) c.3577G>T (p.Gly1193Trp) | |
10 | g.71798579G>A | CA16605679 | CDH23 | c.7054+1G>A (n.7054+1G>A) c.987+1G>A (n.987+1G>A) c.651+1G>A (n.651+1G>A) c.7069+1G>A (n.7069+1G>A) c.334+1G>A (n.334+1G>A) n.590+1G>A c.7249+1G>A (n.7249+1G>A) c.7183+1G>A (n.7183+1G>A) c.7246+1G>A (n.7246+1G>A) c.7243+1G>A (n.7243+1G>A) c.7189+1G>A (n.7189+1G>A) c.7159+1G>A (n.7159+1G>A) c.7114+1G>A (n.7114+1G>A) c.6709+1G>A (n.6709+1G>A) c.6067+1G>A (n.6067+1G>A) c.3577+1G>A (n.3577+1G>A) | ClinVar dbSNP |
10 | g.71798579G>C | CA377158542 | CDH23 | c.7054+1G>C (n.7054+1G>C) c.987+1G>C (n.987+1G>C) c.651+1G>C (n.651+1G>C) c.7069+1G>C (n.7069+1G>C) c.334+1G>C (n.334+1G>C) n.590+1G>C c.7249+1G>C (n.7249+1G>C) c.7183+1G>C (n.7183+1G>C) c.7246+1G>C (n.7246+1G>C) c.7243+1G>C (n.7243+1G>C) c.7189+1G>C (n.7189+1G>C) c.7159+1G>C (n.7159+1G>C) c.7114+1G>C (n.7114+1G>C) c.6709+1G>C (n.6709+1G>C) c.6067+1G>C (n.6067+1G>C) c.3577+1G>C (n.3577+1G>C) | |
10 | g.71798579G= | CA1918878514 | CDH23 | c.7054+1G= (n.7054+1G=) c.987+1G= (n.987+1G=) c.651+1G= (n.651+1G=) c.7069+1G= (n.7069+1G=) c.334+1G= (n.334+1G=) n.590+1G= c.7249+1G= (n.7249+1G=) c.7183+1G= (n.7183+1G=) c.7246+1G= (n.7246+1G=) c.7243+1G= (n.7243+1G=) c.7189+1G= (n.7189+1G=) c.7159+1G= (n.7159+1G=) c.7114+1G= (n.7114+1G=) c.6709+1G= (n.6709+1G=) c.6067+1G= (n.6067+1G=) c.3577+1G= (n.3577+1G=) | |
10 | g.71798579G>T | CA377158544 | CDH23 | c.7054+1G>T (n.7054+1G>T) c.987+1G>T (n.987+1G>T) c.651+1G>T (n.651+1G>T) c.7069+1G>T (n.7069+1G>T) c.334+1G>T (n.334+1G>T) n.590+1G>T c.7249+1G>T (n.7249+1G>T) c.7183+1G>T (n.7183+1G>T) c.7246+1G>T (n.7246+1G>T) c.7243+1G>T (n.7243+1G>T) c.7189+1G>T (n.7189+1G>T) c.7159+1G>T (n.7159+1G>T) c.7114+1G>T (n.7114+1G>T) c.6709+1G>T (n.6709+1G>T) c.6067+1G>T (n.6067+1G>T) c.3577+1G>T (n.3577+1G>T) | gnomAD v4 |
10 | g.71798580T>A | CA377158547 | CDH23 | c.7054+2T>A (n.7054+2T>A) c.987+2T>A (n.987+2T>A) c.651+2T>A (n.651+2T>A) c.7069+2T>A (n.7069+2T>A) c.334+2T>A (n.334+2T>A) n.590+2T>A c.7249+2T>A (n.7249+2T>A) c.7183+2T>A (n.7183+2T>A) c.7246+2T>A (n.7246+2T>A) c.7243+2T>A (n.7243+2T>A) c.7189+2T>A (n.7189+2T>A) c.7159+2T>A (n.7159+2T>A) c.7114+2T>A (n.7114+2T>A) c.6709+2T>A (n.6709+2T>A) c.6067+2T>A (n.6067+2T>A) c.3577+2T>A (n.3577+2T>A) | |
10 | g.71798580T>C | CA377158556 | CDH23 | c.7054+2T>C (n.7054+2T>C) c.987+2T>C (n.987+2T>C) c.651+2T>C (n.651+2T>C) c.7069+2T>C (n.7069+2T>C) c.334+2T>C (n.334+2T>C) n.590+2T>C c.7249+2T>C (n.7249+2T>C) c.7183+2T>C (n.7183+2T>C) c.7246+2T>C (n.7246+2T>C) c.7243+2T>C (n.7243+2T>C) c.7189+2T>C (n.7189+2T>C) c.7159+2T>C (n.7159+2T>C) c.7114+2T>C (n.7114+2T>C) c.6709+2T>C (n.6709+2T>C) c.6067+2T>C (n.6067+2T>C) c.3577+2T>C (n.3577+2T>C) | |
10 | g.71798580T>G | CA377158554 | CDH23 | c.7054+2T>G (n.7054+2T>G) c.987+2T>G (n.987+2T>G) c.651+2T>G (n.651+2T>G) c.7069+2T>G (n.7069+2T>G) c.334+2T>G (n.334+2T>G) n.590+2T>G c.7249+2T>G (n.7249+2T>G) c.7183+2T>G (n.7183+2T>G) c.7246+2T>G (n.7246+2T>G) c.7243+2T>G (n.7243+2T>G) c.7189+2T>G (n.7189+2T>G) c.7159+2T>G (n.7159+2T>G) c.7114+2T>G (n.7114+2T>G) c.6709+2T>G (n.6709+2T>G) c.6067+2T>G (n.6067+2T>G) c.3577+2T>G (n.3577+2T>G) | dbSNP |
10 | g.71798580T= | CA1918878515 | CDH23 | c.7054+2T= (n.7054+2T=) c.987+2T= (n.987+2T=) c.651+2T= (n.651+2T=) c.7069+2T= (n.7069+2T=) c.334+2T= (n.334+2T=) n.590+2T= c.7249+2T= (n.7249+2T=) c.7183+2T= (n.7183+2T=) c.7246+2T= (n.7246+2T=) c.7243+2T= (n.7243+2T=) c.7189+2T= (n.7189+2T=) c.7159+2T= (n.7159+2T=) c.7114+2T= (n.7114+2T=) c.6709+2T= (n.6709+2T=) c.6067+2T= (n.6067+2T=) c.3577+2T= (n.3577+2T=) | |
10 | g.71798581A>T | CA2840293849 | CDH23 | c.7054+3A>T (n.7054+3A>T) c.987+3A>T (n.987+3A>T) c.651+3A>T (n.651+3A>T) c.7069+3A>T (n.7069+3A>T) c.334+3A>T (n.334+3A>T) n.590+3A>T c.7249+3A>T (n.7249+3A>T) c.7183+3A>T (n.7183+3A>T) c.7246+3A>T (n.7246+3A>T) c.7243+3A>T (n.7243+3A>T) c.7189+3A>T (n.7189+3A>T) c.7159+3A>T (n.7159+3A>T) c.7114+3A>T (n.7114+3A>T) c.6709+3A>T (n.6709+3A>T) c.6067+3A>T (n.6067+3A>T) c.3577+3A>T (n.3577+3A>T) | |
10 | g.71798583G>T | CA2609588225 | CDH23 | c.7054+5G>T (n.7054+5G>T) c.987+5G>T (n.987+5G>T) c.651+5G>T (n.651+5G>T) c.7069+5G>T (n.7069+5G>T) c.334+5G>T (n.334+5G>T) n.590+5G>T c.7249+5G>T (n.7249+5G>T) c.7183+5G>T (n.7183+5G>T) c.7246+5G>T (n.7246+5G>T) c.7243+5G>T (n.7243+5G>T) c.7189+5G>T (n.7189+5G>T) c.7159+5G>T (n.7159+5G>T) c.7114+5G>T (n.7114+5G>T) c.6709+5G>T (n.6709+5G>T) c.6067+5G>T (n.6067+5G>T) c.3577+5G>T (n.3577+5G>T) | gnomAD v4 |
10 | g.71798584T>C | CA5546239 | CDH23 | c.7054+6T>C (n.7054+6T>C) c.987+6T>C (n.987+6T>C) c.651+6T>C (n.651+6T>C) c.7069+6T>C (n.7069+6T>C) c.334+6T>C (n.334+6T>C) n.590+6T>C c.7249+6T>C (n.7249+6T>C) c.7183+6T>C (n.7183+6T>C) c.7246+6T>C (n.7246+6T>C) c.7243+6T>C (n.7243+6T>C) c.7189+6T>C (n.7189+6T>C) c.7159+6T>C (n.7159+6T>C) c.7114+6T>C (n.7114+6T>C) c.6709+6T>C (n.6709+6T>C) c.6067+6T>C (n.6067+6T>C) c.3577+6T>C (n.3577+6T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71798584T>G | CA1918878517 | CDH23 | c.7054+6T>G (n.7054+6T>G) c.987+6T>G (n.987+6T>G) c.651+6T>G (n.651+6T>G) c.7069+6T>G (n.7069+6T>G) c.334+6T>G (n.334+6T>G) n.590+6T>G c.7249+6T>G (n.7249+6T>G) c.7183+6T>G (n.7183+6T>G) c.7246+6T>G (n.7246+6T>G) c.7243+6T>G (n.7243+6T>G) c.7189+6T>G (n.7189+6T>G) c.7159+6T>G (n.7159+6T>G) c.7114+6T>G (n.7114+6T>G) c.6709+6T>G (n.6709+6T>G) c.6067+6T>G (n.6067+6T>G) c.3577+6T>G (n.3577+6T>G) | dbSNP |
10 | g.71798584T= | CA1918878516 | CDH23 | c.7054+6T= (n.7054+6T=) c.987+6T= (n.987+6T=) c.651+6T= (n.651+6T=) c.7069+6T= (n.7069+6T=) c.334+6T= (n.334+6T=) n.590+6T= c.7249+6T= (n.7249+6T=) c.7183+6T= (n.7183+6T=) c.7246+6T= (n.7246+6T=) c.7243+6T= (n.7243+6T=) c.7189+6T= (n.7189+6T=) c.7159+6T= (n.7159+6T=) c.7114+6T= (n.7114+6T=) c.6709+6T= (n.6709+6T=) c.6067+6T= (n.6067+6T=) c.3577+6T= (n.3577+6T=) | |
10 | g.71798586A>T | CA2840293850 | CDH23 | c.7054+8A>T (n.7054+8A>T) c.987+8A>T (n.987+8A>T) c.651+8A>T (n.651+8A>T) c.7069+8A>T (n.7069+8A>T) c.334+8A>T (n.334+8A>T) n.590+8A>T c.7249+8A>T (n.7249+8A>T) c.7183+8A>T (n.7183+8A>T) c.7246+8A>T (n.7246+8A>T) c.7243+8A>T (n.7243+8A>T) c.7189+8A>T (n.7189+8A>T) c.7159+8A>T (n.7159+8A>T) c.7114+8A>T (n.7114+8A>T) c.6709+8A>T (n.6709+8A>T) c.6067+8A>T (n.6067+8A>T) c.3577+8A>T (n.3577+8A>T) | |
10 | g.71798588A>G | CA2499220355 | CDH23 | c.7054+10A>G (n.7054+10A>G) c.987+10A>G (n.987+10A>G) c.651+10A>G (n.651+10A>G) c.7069+10A>G (n.7069+10A>G) c.334+10A>G (n.334+10A>G) n.590+10A>G c.7249+10A>G (n.7249+10A>G) c.7183+10A>G (n.7183+10A>G) c.7246+10A>G (n.7246+10A>G) c.7243+10A>G (n.7243+10A>G) c.7189+10A>G (n.7189+10A>G) c.7159+10A>G (n.7159+10A>G) c.7114+10A>G (n.7114+10A>G) c.6709+10A>G (n.6709+10A>G) c.6067+10A>G (n.6067+10A>G) c.3577+10A>G (n.3577+10A>G) | ClinVar dbSNP |
10 | g.71798589A>T | CA2839680721 | CDH23 | c.7054+11A>T (n.7054+11A>T) c.987+11A>T (n.987+11A>T) c.651+11A>T (n.651+11A>T) c.7069+11A>T (n.7069+11A>T) c.334+11A>T (n.334+11A>T) n.590+11A>T c.7249+11A>T (n.7249+11A>T) c.7183+11A>T (n.7183+11A>T) c.7246+11A>T (n.7246+11A>T) c.7243+11A>T (n.7243+11A>T) c.7189+11A>T (n.7189+11A>T) c.7159+11A>T (n.7159+11A>T) c.7114+11A>T (n.7114+11A>T) c.6709+11A>T (n.6709+11A>T) c.6067+11A>T (n.6067+11A>T) c.3577+11A>T (n.3577+11A>T) | |
10 | g.71798590A= | CA1918878518 | CDH23 | c.7054+12A= (n.7054+12A=) c.987+12A= (n.987+12A=) c.651+12A= (n.651+12A=) c.7069+12A= (n.7069+12A=) c.334+12A= (n.334+12A=) n.590+12A= c.7249+12A= (n.7249+12A=) c.7183+12A= (n.7183+12A=) c.7246+12A= (n.7246+12A=) c.7243+12A= (n.7243+12A=) c.7189+12A= (n.7189+12A=) c.7159+12A= (n.7159+12A=) c.7114+12A= (n.7114+12A=) c.6709+12A= (n.6709+12A=) c.6067+12A= (n.6067+12A=) c.3577+12A= (n.3577+12A=) | |
10 | g.71798590A>C | CA653396089 | CDH23 | c.7054+12A>C (n.7054+12A>C) c.987+12A>C (n.987+12A>C) c.651+12A>C (n.651+12A>C) c.7069+12A>C (n.7069+12A>C) c.334+12A>C (n.334+12A>C) n.590+12A>C c.7249+12A>C (n.7249+12A>C) c.7183+12A>C (n.7183+12A>C) c.7246+12A>C (n.7246+12A>C) c.7243+12A>C (n.7243+12A>C) c.7189+12A>C (n.7189+12A>C) c.7159+12A>C (n.7159+12A>C) c.7114+12A>C (n.7114+12A>C) c.6709+12A>C (n.6709+12A>C) c.6067+12A>C (n.6067+12A>C) c.3577+12A>C (n.3577+12A>C) | COSMIC |
10 | g.71798590A>G | CA1918878519 | CDH23 | c.7054+12A>G (n.7054+12A>G) c.987+12A>G (n.987+12A>G) c.651+12A>G (n.651+12A>G) c.7069+12A>G (n.7069+12A>G) c.334+12A>G (n.334+12A>G) n.590+12A>G c.7249+12A>G (n.7249+12A>G) c.7183+12A>G (n.7183+12A>G) c.7246+12A>G (n.7246+12A>G) c.7243+12A>G (n.7243+12A>G) c.7189+12A>G (n.7189+12A>G) c.7159+12A>G (n.7159+12A>G) c.7114+12A>G (n.7114+12A>G) c.6709+12A>G (n.6709+12A>G) c.6067+12A>G (n.6067+12A>G) c.3577+12A>G (n.3577+12A>G) | dbSNP gnomAD v4 |
10 | g.71798592C>A | CA2788486901 | CDH23 | c.7054+14C>A (n.7054+14C>A) c.987+14C>A (n.987+14C>A) c.651+14C>A (n.651+14C>A) c.7069+14C>A (n.7069+14C>A) c.334+14C>A (n.334+14C>A) n.590+14C>A c.7249+14C>A (n.7249+14C>A) c.7183+14C>A (n.7183+14C>A) c.7246+14C>A (n.7246+14C>A) c.7243+14C>A (n.7243+14C>A) c.7189+14C>A (n.7189+14C>A) c.7159+14C>A (n.7159+14C>A) c.7114+14C>A (n.7114+14C>A) c.6709+14C>A (n.6709+14C>A) c.6067+14C>A (n.6067+14C>A) c.3577+14C>A (n.3577+14C>A) | |
10 | g.71798592C= | CA1918878520 | CDH23 | c.7054+14C= (n.7054+14C=) c.987+14C= (n.987+14C=) c.651+14C= (n.651+14C=) c.7069+14C= (n.7069+14C=) c.334+14C= (n.334+14C=) n.590+14C= c.7249+14C= (n.7249+14C=) c.7183+14C= (n.7183+14C=) c.7246+14C= (n.7246+14C=) c.7243+14C= (n.7243+14C=) c.7189+14C= (n.7189+14C=) c.7159+14C= (n.7159+14C=) c.7114+14C= (n.7114+14C=) c.6709+14C= (n.6709+14C=) c.6067+14C= (n.6067+14C=) c.3577+14C= (n.3577+14C=) | |
10 | g.71798592C>G | CA2697558453 | CDH23 | c.7054+14C>G (n.7054+14C>G) c.987+14C>G (n.987+14C>G) c.651+14C>G (n.651+14C>G) c.7069+14C>G (n.7069+14C>G) c.334+14C>G (n.334+14C>G) n.590+14C>G c.7249+14C>G (n.7249+14C>G) c.7183+14C>G (n.7183+14C>G) c.7246+14C>G (n.7246+14C>G) c.7243+14C>G (n.7243+14C>G) c.7189+14C>G (n.7189+14C>G) c.7159+14C>G (n.7159+14C>G) c.7114+14C>G (n.7114+14C>G) c.6709+14C>G (n.6709+14C>G) c.6067+14C>G (n.6067+14C>G) c.3577+14C>G (n.3577+14C>G) | ClinVar |
10 | g.71798592C>T | CA594316294 | CDH23 | c.7054+14C>T (n.7054+14C>T) c.987+14C>T (n.987+14C>T) c.651+14C>T (n.651+14C>T) c.7069+14C>T (n.7069+14C>T) c.334+14C>T (n.334+14C>T) n.590+14C>T c.7249+14C>T (n.7249+14C>T) c.7183+14C>T (n.7183+14C>T) c.7246+14C>T (n.7246+14C>T) c.7243+14C>T (n.7243+14C>T) c.7189+14C>T (n.7189+14C>T) c.7159+14C>T (n.7159+14C>T) c.7114+14C>T (n.7114+14C>T) c.6709+14C>T (n.6709+14C>T) c.6067+14C>T (n.6067+14C>T) c.3577+14C>T (n.3577+14C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.71798593T>C | CA2574455570 | CDH23 | c.7054+15T>C (n.7054+15T>C) c.987+15T>C (n.987+15T>C) c.651+15T>C (n.651+15T>C) c.7069+15T>C (n.7069+15T>C) c.334+15T>C (n.334+15T>C) n.590+15T>C c.7249+15T>C (n.7249+15T>C) c.7183+15T>C (n.7183+15T>C) c.7246+15T>C (n.7246+15T>C) c.7243+15T>C (n.7243+15T>C) c.7189+15T>C (n.7189+15T>C) c.7159+15T>C (n.7159+15T>C) c.7114+15T>C (n.7114+15T>C) c.6709+15T>C (n.6709+15T>C) c.6067+15T>C (n.6067+15T>C) c.3577+15T>C (n.3577+15T>C) |