WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.71798485_71798492del | CA1918878464 | CDH23 | c.6961_6968del (p.Val2321Ter) c.894_901del (n.894_901del) c.558_565del (n.558_565del) c.6976_6983del (p.Val2326Ter) c.241_248del (p.Val81Ter) n.497_504del c.7156_7163del (p.Val2386Ter) c.7090_7097del (p.Val2364Ter) c.7153_7160del (p.Val2385Ter) c.7150_7157del (p.Val2384Ter) c.7096_7103del (p.Val2366Ter) c.7066_7073del (p.Val2356Ter) c.7021_7028del (p.Val2341Ter) c.6616_6623del (p.Val2206Ter) c.5974_5981del (p.Val1992Ter) c.3484_3491del (p.Val1162Ter) | ClinVar dbSNP |
| 10 | g.71798492del | CA261796 | CDH23 | c.6968del (p.Pro2323LeufsTer?) c.901del (n.901del) c.565del (n.565del) c.6983del (p.Pro2328LeufsTer?) c.248del (p.Pro83LeufsTer?) n.504del c.7163del (p.Pro2388LeufsTer?) c.7097del (p.Pro2366LeufsTer?) c.7160del (p.Pro2387LeufsTer?) c.7157del (p.Pro2386LeufsTer?) c.7103del (p.Pro2368LeufsTer?) c.7073del (p.Pro2358LeufsTer?) c.7028del (p.Pro2343LeufsTer?) c.6623del (p.Pro2208LeufsTer?) c.5981del (p.Pro1994LeufsTer?) c.3491del (p.Pro1164LeufsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.71798492C>A | CA377158089 | CDH23 | c.6968C>A (p.Pro2323His) c.901C>A (n.901C>A) c.565C>A (n.565C>A) c.6983C>A (p.Pro2328His) c.248C>A (p.Pro83His) n.504C>A c.7163C>A (p.Pro2388His) c.7097C>A (p.Pro2366His) c.7160C>A (p.Pro2387His) c.7157C>A (p.Pro2386His) c.7103C>A (p.Pro2368His) c.7073C>A (p.Pro2358His) c.7028C>A (p.Pro2343His) c.6623C>A (p.Pro2208His) c.5981C>A (p.Pro1994His) c.3491C>A (p.Pro1164His) | |
| 10 | g.71798492C>G | CA377158090 | CDH23 | c.6968C>G (p.Pro2323Arg) c.901C>G (n.901C>G) c.565C>G (n.565C>G) c.6983C>G (p.Pro2328Arg) c.248C>G (p.Pro83Arg) n.504C>G c.7163C>G (p.Pro2388Arg) c.7097C>G (p.Pro2366Arg) c.7160C>G (p.Pro2387Arg) c.7157C>G (p.Pro2386Arg) c.7103C>G (p.Pro2368Arg) c.7073C>G (p.Pro2358Arg) c.7028C>G (p.Pro2343Arg) c.6623C>G (p.Pro2208Arg) c.5981C>G (p.Pro1994Arg) c.3491C>G (p.Pro1164Arg) | |
| 10 | g.71798492C>T | CA377158091 | CDH23 | c.6968C>T (p.Pro2323Leu) c.901C>T (n.901C>T) c.565C>T (n.565C>T) c.6983C>T (p.Pro2328Leu) c.248C>T (p.Pro83Leu) n.504C>T c.7163C>T (p.Pro2388Leu) c.7097C>T (p.Pro2366Leu) c.7160C>T (p.Pro2387Leu) c.7157C>T (p.Pro2386Leu) c.7103C>T (p.Pro2368Leu) c.7073C>T (p.Pro2358Leu) c.7028C>T (p.Pro2343Leu) c.6623C>T (p.Pro2208Leu) c.5981C>T (p.Pro1994Leu) c.3491C>T (p.Pro1164Leu) | |
| 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=) |