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.71809868G>A | CA377133108 | CDH23 | c.8771G>A (p.Ser2924Asn) c.2704G>A (n.2704G>A) c.2368G>A (n.2368G>A) c.8786G>A (p.Ser2929Asn) c.2051G>A (p.Ser684Asn) n.2307G>A c.8966G>A (p.Ser2989Asn) c.8900G>A (p.Ser2967Asn) c.8963G>A (p.Ser2988Asn) c.8960G>A (p.Ser2987Asn) c.8906G>A (p.Ser2969Asn) c.8876G>A (p.Ser2959Asn) c.8831G>A (p.Ser2944Asn) c.8426G>A (p.Ser2809Asn) c.7784G>A (p.Ser2595Asn) c.5294G>A (p.Ser1765Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.71809868G>C | CA377133109 | CDH23 | c.8771G>C (p.Ser2924Thr) c.2704G>C (n.2704G>C) c.2368G>C (n.2368G>C) c.8786G>C (p.Ser2929Thr) c.2051G>C (p.Ser684Thr) n.2307G>C c.8966G>C (p.Ser2989Thr) c.8900G>C (p.Ser2967Thr) c.8963G>C (p.Ser2988Thr) c.8960G>C (p.Ser2987Thr) c.8906G>C (p.Ser2969Thr) c.8876G>C (p.Ser2959Thr) c.8831G>C (p.Ser2944Thr) c.8426G>C (p.Ser2809Thr) c.7784G>C (p.Ser2595Thr) c.5294G>C (p.Ser1765Thr) | gnomAD v4 |
| 10 | g.71809868G= | CA1918889044 | CDH23 | c.8771G= (p.Ser2924=) c.2704G= (n.2704G=) c.2368G= (n.2368G=) c.8786G= (p.Ser2929=) c.2051G= (p.Ser684=) n.2307G= c.8966G= (p.Ser2989=) c.8900G= (p.Ser2967=) c.8963G= (p.Ser2988=) c.8960G= (p.Ser2987=) c.8906G= (p.Ser2969=) c.8876G= (p.Ser2959=) c.8831G= (p.Ser2944=) c.8426G= (p.Ser2809=) c.7784G= (p.Ser2595=) c.5294G= (p.Ser1765=) | |
| 10 | g.71809868G>T | CA377133110 | CDH23 | c.8771G>T (p.Ser2924Ile) c.2704G>T (n.2704G>T) c.2368G>T (n.2368G>T) c.8786G>T (p.Ser2929Ile) c.2051G>T (p.Ser684Ile) n.2307G>T c.8966G>T (p.Ser2989Ile) c.8900G>T (p.Ser2967Ile) c.8963G>T (p.Ser2988Ile) c.8960G>T (p.Ser2987Ile) c.8906G>T (p.Ser2969Ile) c.8876G>T (p.Ser2959Ile) c.8831G>T (p.Ser2944Ile) c.8426G>T (p.Ser2809Ile) c.7784G>T (p.Ser2595Ile) c.5294G>T (p.Ser1765Ile) | |
| 10 | g.71809869C>A | CA5546749 | CDH23 | c.8772C>A (p.Ser2924Arg) c.2705C>A (n.2705C>A) c.2369C>A (n.2369C>A) c.8787C>A (p.Ser2929Arg) c.2052C>A (p.Ser684Arg) n.2308C>A c.8967C>A (p.Ser2989Arg) c.8901C>A (p.Ser2967Arg) c.8964C>A (p.Ser2988Arg) c.8961C>A (p.Ser2987Arg) c.8907C>A (p.Ser2969Arg) c.8877C>A (p.Ser2959Arg) c.8832C>A (p.Ser2944Arg) c.8427C>A (p.Ser2809Arg) c.7785C>A (p.Ser2595Arg) c.5295C>A (p.Ser1765Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.71809869C= | CA1918889046 | CDH23 | c.8772C= (p.Ser2924=) c.2705C= (n.2705C=) c.2369C= (n.2369C=) c.8787C= (p.Ser2929=) c.2052C= (p.Ser684=) n.2308C= c.8967C= (p.Ser2989=) c.8901C= (p.Ser2967=) c.8964C= (p.Ser2988=) c.8961C= (p.Ser2987=) c.8907C= (p.Ser2969=) c.8877C= (p.Ser2959=) c.8832C= (p.Ser2944=) c.8427C= (p.Ser2809=) c.7785C= (p.Ser2595=) c.5295C= (p.Ser1765=) | |
| 10 | g.71809869C>G | CA377133111 | CDH23 | c.8772C>G (p.Ser2924Arg) c.2705C>G (n.2705C>G) c.2369C>G (n.2369C>G) c.8787C>G (p.Ser2929Arg) c.2052C>G (p.Ser684Arg) n.2308C>G c.8967C>G (p.Ser2989Arg) c.8901C>G (p.Ser2967Arg) c.8964C>G (p.Ser2988Arg) c.8961C>G (p.Ser2987Arg) c.8907C>G (p.Ser2969Arg) c.8877C>G (p.Ser2959Arg) c.8832C>G (p.Ser2944Arg) c.8427C>G (p.Ser2809Arg) c.7785C>G (p.Ser2595Arg) c.5295C>G (p.Ser1765Arg) | |
| 10 | g.71809869C>T | CA470282502 | CDH23 | c.8772C>T (p.Ser2924=) c.2705C>T (n.2705C>T) c.2369C>T (n.2369C>T) c.8787C>T (p.Ser2929=) c.2052C>T (p.Ser684=) n.2308C>T c.8967C>T (p.Ser2989=) c.8901C>T (p.Ser2967=) c.8964C>T (p.Ser2988=) c.8961C>T (p.Ser2987=) c.8907C>T (p.Ser2969=) c.8877C>T (p.Ser2959=) c.8832C>T (p.Ser2944=) c.8427C>T (p.Ser2809=) c.7785C>T (p.Ser2595=) c.5295C>T (p.Ser1765=) | |
| 10 | g.71809869_71809870insTCAAAGACATTCGCAATTACGTCTTGGCGCGTCAGGAAGAAATGGTCAAAGT | CA2549649930 | CDH23 | c.8772_8773insTCAAAGACATTCGCAATTACGTCTTGGCGCGTCAGGAAGAAATGGTCAAAGT (p.Pro2925SerfsTer?) c.2705_2706insTCAAAGACATTCGCAATTACGTCTTGGCGCGTCAGGAAGAAATGGTCAAAGT (n.2705_2706insTCAAAGACATTCGCAATTACGTCTTGGCGCGTCAGGAAGAAATGGTCAAAGT) c.2369_2370insTCAAAGACATTCGCAATTACGTCTTGGCGCGTCAGGAAGAAATGGTCAAAGT (n.2369_2370insTCAAAGACATTCGCAATTACGTCTTGGCGCGTCAGGAAGAAATGGTCAAAGT) c.8787_8788insTCAAAGACATTCGCAATTACGTCTTGGCGCGTCAGGAAGAAATGGTCAAAGT (p.Pro2930SerfsTer?) c.2052_2053insTCAAAGACATTCGCAATTACGTCTTGGCGCGTCAGGAAGAAATGGTCAAAGT (p.Pro685SerfsTer?) n.2308_2309insTCAAAGACATTCGCAATTACGTCTTGGCGCGTCAGGAAGAAATGGTCAAAGT c.8967_8968insTCAAAGACATTCGCAATTACGTCTTGGCGCGTCAGGAAGAAATGGTCAAAGT (p.Pro2990SerfsTer?) c.8901_8902insTCAAAGACATTCGCAATTACGTCTTGGCGCGTCAGGAAGAAATGGTCAAAGT (p.Pro2968SerfsTer?) c.8964_8965insTCAAAGACATTCGCAATTACGTCTTGGCGCGTCAGGAAGAAATGGTCAAAGT (p.Pro2989SerfsTer?) c.8961_8962insTCAAAGACATTCGCAATTACGTCTTGGCGCGTCAGGAAGAAATGGTCAAAGT (p.Pro2988SerfsTer?) c.8907_8908insTCAAAGACATTCGCAATTACGTCTTGGCGCGTCAGGAAGAAATGGTCAAAGT (p.Pro2970SerfsTer?) c.8877_8878insTCAAAGACATTCGCAATTACGTCTTGGCGCGTCAGGAAGAAATGGTCAAAGT (p.Pro2960SerfsTer?) c.8832_8833insTCAAAGACATTCGCAATTACGTCTTGGCGCGTCAGGAAGAAATGGTCAAAGT (p.Pro2945SerfsTer?) c.8427_8428insTCAAAGACATTCGCAATTACGTCTTGGCGCGTCAGGAAGAAATGGTCAAAGT (p.Pro2810SerfsTer?) c.7785_7786insTCAAAGACATTCGCAATTACGTCTTGGCGCGTCAGGAAGAAATGGTCAAAGT (p.Pro2596SerfsTer?) c.5295_5296insTCAAAGACATTCGCAATTACGTCTTGGCGCGTCAGGAAGAAATGGTCAAAGT (p.Pro1766SerfsTer?) | |
| 10 | g.71809870C>A | CA377133112 | CDH23 | c.8773C>A (p.Pro2925Thr) c.2706C>A (n.2706C>A) c.2370C>A (n.2370C>A) c.8788C>A (p.Pro2930Thr) c.2053C>A (p.Pro685Thr) n.2309C>A c.8968C>A (p.Pro2990Thr) c.8902C>A (p.Pro2968Thr) c.8965C>A (p.Pro2989Thr) c.8962C>A (p.Pro2988Thr) c.8908C>A (p.Pro2970Thr) c.8878C>A (p.Pro2960Thr) c.8833C>A (p.Pro2945Thr) c.8428C>A (p.Pro2810Thr) c.7786C>A (p.Pro2596Thr) c.5296C>A (p.Pro1766Thr) | |
| 10 | g.71809870C>G | CA377133114 | CDH23 | c.8773C>G (p.Pro2925Ala) c.2706C>G (n.2706C>G) c.2370C>G (n.2370C>G) c.8788C>G (p.Pro2930Ala) c.2053C>G (p.Pro685Ala) n.2309C>G c.8968C>G (p.Pro2990Ala) c.8902C>G (p.Pro2968Ala) c.8965C>G (p.Pro2989Ala) c.8962C>G (p.Pro2988Ala) c.8908C>G (p.Pro2970Ala) c.8878C>G (p.Pro2960Ala) c.8833C>G (p.Pro2945Ala) c.8428C>G (p.Pro2810Ala) c.7786C>G (p.Pro2596Ala) c.5296C>G (p.Pro1766Ala) | |
| 10 | g.71809870C>T | CA377133116 | CDH23 | c.8773C>T (p.Pro2925Ser) c.2706C>T (n.2706C>T) c.2370C>T (n.2370C>T) c.8788C>T (p.Pro2930Ser) c.2053C>T (p.Pro685Ser) n.2309C>T c.8968C>T (p.Pro2990Ser) c.8902C>T (p.Pro2968Ser) c.8965C>T (p.Pro2989Ser) c.8962C>T (p.Pro2988Ser) c.8908C>T (p.Pro2970Ser) c.8878C>T (p.Pro2960Ser) c.8833C>T (p.Pro2945Ser) c.8428C>T (p.Pro2810Ser) c.7786C>T (p.Pro2596Ser) c.5296C>T (p.Pro1766Ser) | gnomAD v4 |
| 10 | g.71809871C>A | CA377133118 | CDH23 | c.8774C>A (p.Pro2925His) c.2707C>A (n.2707C>A) c.2371C>A (n.2371C>A) c.8789C>A (p.Pro2930His) c.2054C>A (p.Pro685His) n.2310C>A c.8969C>A (p.Pro2990His) c.8903C>A (p.Pro2968His) c.8966C>A (p.Pro2989His) c.8963C>A (p.Pro2988His) c.8909C>A (p.Pro2970His) c.8879C>A (p.Pro2960His) c.8834C>A (p.Pro2945His) c.8429C>A (p.Pro2810His) c.7787C>A (p.Pro2596His) c.5297C>A (p.Pro1766His) | |
| 10 | g.71809871C= | CA1918889048 | CDH23 | c.8774C= (p.Pro2925=) c.2707C= (n.2707C=) c.2371C= (n.2371C=) c.8789C= (p.Pro2930=) c.2054C= (p.Pro685=) n.2310C= c.8969C= (p.Pro2990=) c.8903C= (p.Pro2968=) c.8966C= (p.Pro2989=) c.8963C= (p.Pro2988=) c.8909C= (p.Pro2970=) c.8879C= (p.Pro2960=) c.8834C= (p.Pro2945=) c.8429C= (p.Pro2810=) c.7787C= (p.Pro2596=) c.5297C= (p.Pro1766=) | |
| 10 | g.71809871C>G | CA377133120 | CDH23 | c.8774C>G (p.Pro2925Arg) c.2707C>G (n.2707C>G) c.2371C>G (n.2371C>G) c.8789C>G (p.Pro2930Arg) c.2054C>G (p.Pro685Arg) n.2310C>G c.8969C>G (p.Pro2990Arg) c.8903C>G (p.Pro2968Arg) c.8966C>G (p.Pro2989Arg) c.8963C>G (p.Pro2988Arg) c.8909C>G (p.Pro2970Arg) c.8879C>G (p.Pro2960Arg) c.8834C>G (p.Pro2945Arg) c.8429C>G (p.Pro2810Arg) c.7787C>G (p.Pro2596Arg) c.5297C>G (p.Pro1766Arg) | |
| 10 | g.71809871C>T | CA5546750 | CDH23 | c.8774C>T (p.Pro2925Leu) c.2707C>T (n.2707C>T) c.2371C>T (n.2371C>T) c.8789C>T (p.Pro2930Leu) c.2054C>T (p.Pro685Leu) n.2310C>T c.8969C>T (p.Pro2990Leu) c.8903C>T (p.Pro2968Leu) c.8966C>T (p.Pro2989Leu) c.8963C>T (p.Pro2988Leu) c.8909C>T (p.Pro2970Leu) c.8879C>T (p.Pro2960Leu) c.8834C>T (p.Pro2945Leu) c.8429C>T (p.Pro2810Leu) c.7787C>T (p.Pro2596Leu) c.5297C>T (p.Pro1766Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.71809872C>A | CA470282505 | CDH23 | c.8775C>A (p.Pro2925=) c.2708C>A (n.2708C>A) c.2372C>A (n.2372C>A) c.8790C>A (p.Pro2930=) c.2055C>A (p.Pro685=) n.2311C>A c.8970C>A (p.Pro2990=) c.8904C>A (p.Pro2968=) c.8967C>A (p.Pro2989=) c.8964C>A (p.Pro2988=) c.8910C>A (p.Pro2970=) c.8880C>A (p.Pro2960=) c.8835C>A (p.Pro2945=) c.8430C>A (p.Pro2810=) c.7788C>A (p.Pro2596=) c.5298C>A (p.Pro1766=) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.71809872C= | CA1918889051 | CDH23 | c.8775C= (p.Pro2925=) c.2708C= (n.2708C=) c.2372C= (n.2372C=) c.8790C= (p.Pro2930=) c.2055C= (p.Pro685=) n.2311C= c.8970C= (p.Pro2990=) c.8904C= (p.Pro2968=) c.8967C= (p.Pro2989=) c.8964C= (p.Pro2988=) c.8910C= (p.Pro2970=) c.8880C= (p.Pro2960=) c.8835C= (p.Pro2945=) c.8430C= (p.Pro2810=) c.7788C= (p.Pro2596=) c.5298C= (p.Pro1766=) | |
| 10 | g.71809872C>G | CA470282507 | CDH23 | c.8775C>G (p.Pro2925=) c.2708C>G (n.2708C>G) c.2372C>G (n.2372C>G) c.8790C>G (p.Pro2930=) c.2055C>G (p.Pro685=) n.2311C>G c.8970C>G (p.Pro2990=) c.8904C>G (p.Pro2968=) c.8967C>G (p.Pro2989=) c.8964C>G (p.Pro2988=) c.8910C>G (p.Pro2970=) c.8880C>G (p.Pro2960=) c.8835C>G (p.Pro2945=) c.8430C>G (p.Pro2810=) c.7788C>G (p.Pro2596=) c.5298C>G (p.Pro1766=) | |
| 10 | g.71809872C>T | CA5546751 | CDH23 | c.8775C>T (p.Pro2925=) c.2708C>T (n.2708C>T) c.2372C>T (n.2372C>T) c.8790C>T (p.Pro2930=) c.2055C>T (p.Pro685=) n.2311C>T c.8970C>T (p.Pro2990=) c.8904C>T (p.Pro2968=) c.8967C>T (p.Pro2989=) c.8964C>T (p.Pro2988=) c.8910C>T (p.Pro2970=) c.8880C>T (p.Pro2960=) c.8835C>T (p.Pro2945=) c.8430C>T (p.Pro2810=) c.7788C>T (p.Pro2596=) c.5298C>T (p.Pro1766=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.71809873G>A | CA5546752 | CDH23 | c.8776G>A (p.Gly2926Ser) c.2709G>A (n.2709G>A) c.2373G>A (n.2373G>A) c.8791G>A (p.Gly2931Ser) c.2056G>A (p.Gly686Ser) n.2312G>A c.8971G>A (p.Gly2991Ser) c.8905G>A (p.Gly2969Ser) c.8968G>A (p.Gly2990Ser) c.8965G>A (p.Gly2989Ser) c.8911G>A (p.Gly2971Ser) c.8881G>A (p.Gly2961Ser) c.8836G>A (p.Gly2946Ser) c.8431G>A (p.Gly2811Ser) c.7789G>A (p.Gly2597Ser) c.5299G>A (p.Gly1767Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.71809873G>C | CA377133124 | CDH23 | c.8776G>C (p.Gly2926Arg) c.2709G>C (n.2709G>C) c.2373G>C (n.2373G>C) c.8791G>C (p.Gly2931Arg) c.2056G>C (p.Gly686Arg) n.2312G>C c.8971G>C (p.Gly2991Arg) c.8905G>C (p.Gly2969Arg) c.8968G>C (p.Gly2990Arg) c.8965G>C (p.Gly2989Arg) c.8911G>C (p.Gly2971Arg) c.8881G>C (p.Gly2961Arg) c.8836G>C (p.Gly2946Arg) c.8431G>C (p.Gly2811Arg) c.7789G>C (p.Gly2597Arg) c.5299G>C (p.Gly1767Arg) | |
| 10 | g.71809873G= | CA1918889055 | CDH23 | c.8776G= (p.Gly2926=) c.2709G= (n.2709G=) c.2373G= (n.2373G=) c.8791G= (p.Gly2931=) c.2056G= (p.Gly686=) n.2312G= c.8971G= (p.Gly2991=) c.8905G= (p.Gly2969=) c.8968G= (p.Gly2990=) c.8965G= (p.Gly2989=) c.8911G= (p.Gly2971=) c.8881G= (p.Gly2961=) c.8836G= (p.Gly2946=) c.8431G= (p.Gly2811=) c.7789G= (p.Gly2597=) c.5299G= (p.Gly1767=) | |
| 10 | g.71809873G>T | CA377133127 | CDH23 | c.8776G>T (p.Gly2926Cys) c.2709G>T (n.2709G>T) c.2373G>T (n.2373G>T) c.8791G>T (p.Gly2931Cys) c.2056G>T (p.Gly686Cys) n.2312G>T c.8971G>T (p.Gly2991Cys) c.8905G>T (p.Gly2969Cys) c.8968G>T (p.Gly2990Cys) c.8965G>T (p.Gly2989Cys) c.8911G>T (p.Gly2971Cys) c.8881G>T (p.Gly2961Cys) c.8836G>T (p.Gly2946Cys) c.8431G>T (p.Gly2811Cys) c.7789G>T (p.Gly2597Cys) c.5299G>T (p.Gly1767Cys) | |
| 10 | g.71809874del | CA2609588720 | CDH23 | c.8777del (p.Gly2926AlafsTer26) c.2710del (n.2710del) c.2374del (n.2374del) c.8792del (p.Gly2931AlafsTer26) c.2057del (p.Gly686AlafsTer26) n.2313del c.8972del (p.Gly2991AlafsTer26) c.8906del (p.Gly2969AlafsTer26) c.8969del (p.Gly2990AlafsTer26) c.8966del (p.Gly2989AlafsTer26) c.8912del (p.Gly2971AlafsTer26) c.8882del (p.Gly2961AlafsTer26) c.8837del (p.Gly2946AlafsTer26) c.8432del (p.Gly2811AlafsTer26) c.7790del (p.Gly2597AlafsTer26) c.5300del (p.Gly1767AlafsTer26) | gnomAD v4 |
| 10 | g.71809874G>A | CA377133130 | CDH23 | c.8777G>A (p.Gly2926Asp) c.2710G>A (n.2710G>A) c.2374G>A (n.2374G>A) c.8792G>A (p.Gly2931Asp) c.2057G>A (p.Gly686Asp) n.2313G>A c.8972G>A (p.Gly2991Asp) c.8906G>A (p.Gly2969Asp) c.8969G>A (p.Gly2990Asp) c.8966G>A (p.Gly2989Asp) c.8912G>A (p.Gly2971Asp) c.8882G>A (p.Gly2961Asp) c.8837G>A (p.Gly2946Asp) c.8432G>A (p.Gly2811Asp) c.7790G>A (p.Gly2597Asp) c.5300G>A (p.Gly1767Asp) | gnomAD v4 |
| 10 | g.71809874G>C | CA377133131 | CDH23 | c.8777G>C (p.Gly2926Ala) c.2710G>C (n.2710G>C) c.2374G>C (n.2374G>C) c.8792G>C (p.Gly2931Ala) c.2057G>C (p.Gly686Ala) n.2313G>C c.8972G>C (p.Gly2991Ala) c.8906G>C (p.Gly2969Ala) c.8969G>C (p.Gly2990Ala) c.8966G>C (p.Gly2989Ala) c.8912G>C (p.Gly2971Ala) c.8882G>C (p.Gly2961Ala) c.8837G>C (p.Gly2946Ala) c.8432G>C (p.Gly2811Ala) c.7790G>C (p.Gly2597Ala) c.5300G>C (p.Gly1767Ala) | |
| 10 | g.71809874G>T | CA377133133 | CDH23 | c.8777G>T (p.Gly2926Val) c.2710G>T (n.2710G>T) c.2374G>T (n.2374G>T) c.8792G>T (p.Gly2931Val) c.2057G>T (p.Gly686Val) n.2313G>T c.8972G>T (p.Gly2991Val) c.8906G>T (p.Gly2969Val) c.8969G>T (p.Gly2990Val) c.8966G>T (p.Gly2989Val) c.8912G>T (p.Gly2971Val) c.8882G>T (p.Gly2961Val) c.8837G>T (p.Gly2946Val) c.8432G>T (p.Gly2811Val) c.7790G>T (p.Gly2597Val) c.5300G>T (p.Gly1767Val) | gnomAD v4 |
| 10 | g.71809875C>A | CA470282508 | CDH23 | c.8778C>A (p.Gly2926=) c.2711C>A (n.2711C>A) c.2375C>A (n.2375C>A) c.8793C>A (p.Gly2931=) c.2058C>A (p.Gly686=) n.2314C>A c.8973C>A (p.Gly2991=) c.8907C>A (p.Gly2969=) c.8970C>A (p.Gly2990=) c.8967C>A (p.Gly2989=) c.8913C>A (p.Gly2971=) c.8883C>A (p.Gly2961=) c.8838C>A (p.Gly2946=) c.8433C>A (p.Gly2811=) c.7791C>A (p.Gly2597=) c.5301C>A (p.Gly1767=) | |
| 10 | g.71809875C>G | CA470282510 | CDH23 | c.8778C>G (p.Gly2926=) c.2711C>G (n.2711C>G) c.2375C>G (n.2375C>G) c.8793C>G (p.Gly2931=) c.2058C>G (p.Gly686=) n.2314C>G c.8973C>G (p.Gly2991=) c.8907C>G (p.Gly2969=) c.8970C>G (p.Gly2990=) c.8967C>G (p.Gly2989=) c.8913C>G (p.Gly2971=) c.8883C>G (p.Gly2961=) c.8838C>G (p.Gly2946=) c.8433C>G (p.Gly2811=) c.7791C>G (p.Gly2597=) c.5301C>G (p.Gly1767=) | |
| 10 | g.71809875C>T | CA470282509 | CDH23 | c.8778C>T (p.Gly2926=) c.2711C>T (n.2711C>T) c.2375C>T (n.2375C>T) c.8793C>T (p.Gly2931=) c.2058C>T (p.Gly686=) n.2314C>T c.8973C>T (p.Gly2991=) c.8907C>T (p.Gly2969=) c.8970C>T (p.Gly2990=) c.8967C>T (p.Gly2989=) c.8913C>T (p.Gly2971=) c.8883C>T (p.Gly2961=) c.8838C>T (p.Gly2946=) c.8433C>T (p.Gly2811=) c.7791C>T (p.Gly2597=) c.5301C>T (p.Gly1767=) | |
| 10 | g.71809876T>A | CA377133135 | CDH23 | c.8779T>A (p.Tyr2927Asn) c.2712T>A (n.2712T>A) c.2376T>A (n.2376T>A) c.8794T>A (p.Tyr2932Asn) c.2059T>A (p.Tyr687Asn) n.2315T>A c.8974T>A (p.Tyr2992Asn) c.8908T>A (p.Tyr2970Asn) c.8971T>A (p.Tyr2991Asn) c.8968T>A (p.Tyr2990Asn) c.8914T>A (p.Tyr2972Asn) c.8884T>A (p.Tyr2962Asn) c.8839T>A (p.Tyr2947Asn) c.8434T>A (p.Tyr2812Asn) c.7792T>A (p.Tyr2598Asn) c.5302T>A (p.Tyr1768Asn) | |
| 10 | g.71809876T>C | CA377133137 | CDH23 | c.8779T>C (p.Tyr2927His) c.2712T>C (n.2712T>C) c.2376T>C (n.2376T>C) c.8794T>C (p.Tyr2932His) c.2059T>C (p.Tyr687His) n.2315T>C c.8974T>C (p.Tyr2992His) c.8908T>C (p.Tyr2970His) c.8971T>C (p.Tyr2991His) c.8968T>C (p.Tyr2990His) c.8914T>C (p.Tyr2972His) c.8884T>C (p.Tyr2962His) c.8839T>C (p.Tyr2947His) c.8434T>C (p.Tyr2812His) c.7792T>C (p.Tyr2598His) c.5302T>C (p.Tyr1768His) | |
| 10 | g.71809876T>G | CA377133139 | CDH23 | c.8779T>G (p.Tyr2927Asp) c.2712T>G (n.2712T>G) c.2376T>G (n.2376T>G) c.8794T>G (p.Tyr2932Asp) c.2059T>G (p.Tyr687Asp) n.2315T>G c.8974T>G (p.Tyr2992Asp) c.8908T>G (p.Tyr2970Asp) c.8971T>G (p.Tyr2991Asp) c.8968T>G (p.Tyr2990Asp) c.8914T>G (p.Tyr2972Asp) c.8884T>G (p.Tyr2962Asp) c.8839T>G (p.Tyr2947Asp) c.8434T>G (p.Tyr2812Asp) c.7792T>G (p.Tyr2598Asp) c.5302T>G (p.Tyr1768Asp) | |
| 10 | g.71809877A>C | CA377133141 | CDH23 | c.8780A>C (p.Tyr2927Ser) c.2713A>C (n.2713A>C) c.2377A>C (n.2377A>C) c.8795A>C (p.Tyr2932Ser) c.2060A>C (p.Tyr687Ser) n.2316A>C c.8975A>C (p.Tyr2992Ser) c.8909A>C (p.Tyr2970Ser) c.8972A>C (p.Tyr2991Ser) c.8969A>C (p.Tyr2990Ser) c.8915A>C (p.Tyr2972Ser) c.8885A>C (p.Tyr2962Ser) c.8840A>C (p.Tyr2947Ser) c.8435A>C (p.Tyr2812Ser) c.7793A>C (p.Tyr2598Ser) c.5303A>C (p.Tyr1768Ser) | gnomAD v4 |
| 10 | g.71809877A>G | CA377133143 | CDH23 | c.8780A>G (p.Tyr2927Cys) c.2713A>G (n.2713A>G) c.2377A>G (n.2377A>G) c.8795A>G (p.Tyr2932Cys) c.2060A>G (p.Tyr687Cys) n.2316A>G c.8975A>G (p.Tyr2992Cys) c.8909A>G (p.Tyr2970Cys) c.8972A>G (p.Tyr2991Cys) c.8969A>G (p.Tyr2990Cys) c.8915A>G (p.Tyr2972Cys) c.8885A>G (p.Tyr2962Cys) c.8840A>G (p.Tyr2947Cys) c.8435A>G (p.Tyr2812Cys) c.7793A>G (p.Tyr2598Cys) c.5303A>G (p.Tyr1768Cys) | |
| 10 | g.71809877A>T | CA377133145 | CDH23 | c.8780A>T (p.Tyr2927Phe) c.2713A>T (n.2713A>T) c.2377A>T (n.2377A>T) c.8795A>T (p.Tyr2932Phe) c.2060A>T (p.Tyr687Phe) n.2316A>T c.8975A>T (p.Tyr2992Phe) c.8909A>T (p.Tyr2970Phe) c.8972A>T (p.Tyr2991Phe) c.8969A>T (p.Tyr2990Phe) c.8915A>T (p.Tyr2972Phe) c.8885A>T (p.Tyr2962Phe) c.8840A>T (p.Tyr2947Phe) c.8435A>T (p.Tyr2812Phe) c.7793A>T (p.Tyr2598Phe) c.5303A>T (p.Tyr1768Phe) | |
| 10 | g.71809878C>A | CA261805 | CDH23 | c.8781C>A (p.Tyr2927Ter) c.2714C>A (n.2714C>A) c.2378C>A (n.2378C>A) c.8796C>A (p.Tyr2932Ter) c.2061C>A (p.Tyr687Ter) n.2317C>A c.8976C>A (p.Tyr2992Ter) c.8910C>A (p.Tyr2970Ter) c.8973C>A (p.Tyr2991Ter) c.8970C>A (p.Tyr2990Ter) c.8916C>A (p.Tyr2972Ter) c.8886C>A (p.Tyr2962Ter) c.8841C>A (p.Tyr2947Ter) c.8436C>A (p.Tyr2812Ter) c.7794C>A (p.Tyr2598Ter) c.5304C>A (p.Tyr1768Ter) | ClinVar dbSNP |
| 10 | g.71809878C= | CA1918889059 | CDH23 | c.8781C= (p.Tyr2927=) c.2714C= (n.2714C=) c.2378C= (n.2378C=) c.8796C= (p.Tyr2932=) c.2061C= (p.Tyr687=) n.2317C= c.8976C= (p.Tyr2992=) c.8910C= (p.Tyr2970=) c.8973C= (p.Tyr2991=) c.8970C= (p.Tyr2990=) c.8916C= (p.Tyr2972=) c.8886C= (p.Tyr2962=) c.8841C= (p.Tyr2947=) c.8436C= (p.Tyr2812=) c.7794C= (p.Tyr2598=) c.5304C= (p.Tyr1768=) | |
| 10 | g.71809878C>G | CA377133149 | CDH23 | c.8781C>G (p.Tyr2927Ter) c.2714C>G (n.2714C>G) c.2378C>G (n.2378C>G) c.8796C>G (p.Tyr2932Ter) c.2061C>G (p.Tyr687Ter) n.2317C>G c.8976C>G (p.Tyr2992Ter) c.8910C>G (p.Tyr2970Ter) c.8973C>G (p.Tyr2991Ter) c.8970C>G (p.Tyr2990Ter) c.8916C>G (p.Tyr2972Ter) c.8886C>G (p.Tyr2962Ter) c.8841C>G (p.Tyr2947Ter) c.8436C>G (p.Tyr2812Ter) c.7794C>G (p.Tyr2598Ter) c.5304C>G (p.Tyr1768Ter) | |
| 10 | g.71809878C>T | CA470282514 | CDH23 | c.8781C>T (p.Tyr2927=) c.2714C>T (n.2714C>T) c.2378C>T (n.2378C>T) c.8796C>T (p.Tyr2932=) c.2061C>T (p.Tyr687=) n.2317C>T c.8976C>T (p.Tyr2992=) c.8910C>T (p.Tyr2970=) c.8973C>T (p.Tyr2991=) c.8970C>T (p.Tyr2990=) c.8916C>T (p.Tyr2972=) c.8886C>T (p.Tyr2962=) c.8841C>T (p.Tyr2947=) c.8436C>T (p.Tyr2812=) c.7794C>T (p.Tyr2598=) c.5304C>T (p.Tyr1768=) | gnomAD v4 |
| 10 | g.71809879T>A | CA377133154 | CDH23 | c.8782T>A (p.Phe2928Ile) c.2715T>A (n.2715T>A) c.2379T>A (n.2379T>A) c.8797T>A (p.Phe2933Ile) c.2062T>A (p.Phe688Ile) n.2318T>A c.8977T>A (p.Phe2993Ile) c.8911T>A (p.Phe2971Ile) c.8974T>A (p.Phe2992Ile) c.8971T>A (p.Phe2991Ile) c.8917T>A (p.Phe2973Ile) c.8887T>A (p.Phe2963Ile) c.8842T>A (p.Phe2948Ile) c.8437T>A (p.Phe2813Ile) c.7795T>A (p.Phe2599Ile) c.5305T>A (p.Phe1769Ile) | |
| 10 | g.71809879T>C | CA377133153 | CDH23 | c.8782T>C (p.Phe2928Leu) c.2715T>C (n.2715T>C) c.2379T>C (n.2379T>C) c.8797T>C (p.Phe2933Leu) c.2062T>C (p.Phe688Leu) n.2318T>C c.8977T>C (p.Phe2993Leu) c.8911T>C (p.Phe2971Leu) c.8974T>C (p.Phe2992Leu) c.8971T>C (p.Phe2991Leu) c.8917T>C (p.Phe2973Leu) c.8887T>C (p.Phe2963Leu) c.8842T>C (p.Phe2948Leu) c.8437T>C (p.Phe2813Leu) c.7795T>C (p.Phe2599Leu) c.5305T>C (p.Phe1769Leu) | dbSNP gnomAD v4 |
| 10 | g.71809879T>G | CA377133151 | CDH23 | c.8782T>G (p.Phe2928Val) c.2715T>G (n.2715T>G) c.2379T>G (n.2379T>G) c.8797T>G (p.Phe2933Val) c.2062T>G (p.Phe688Val) n.2318T>G c.8977T>G (p.Phe2993Val) c.8911T>G (p.Phe2971Val) c.8974T>G (p.Phe2992Val) c.8971T>G (p.Phe2991Val) c.8917T>G (p.Phe2973Val) c.8887T>G (p.Phe2963Val) c.8842T>G (p.Phe2948Val) c.8437T>G (p.Phe2813Val) c.7795T>G (p.Phe2599Val) c.5305T>G (p.Phe1769Val) | ClinVar dbSNP |
| 10 | g.71809879T= | CA1918889061 | CDH23 | c.8782T= (p.Phe2928=) c.2715T= (n.2715T=) c.2379T= (n.2379T=) c.8797T= (p.Phe2933=) c.2062T= (p.Phe688=) n.2318T= c.8977T= (p.Phe2993=) c.8911T= (p.Phe2971=) c.8974T= (p.Phe2992=) c.8971T= (p.Phe2991=) c.8917T= (p.Phe2973=) c.8887T= (p.Phe2963=) c.8842T= (p.Phe2948=) c.8437T= (p.Phe2813=) c.7795T= (p.Phe2599=) c.5305T= (p.Phe1769=) | |
| 10 | g.71809880T>A | CA377133157 | CDH23 | c.8783T>A (p.Phe2928Tyr) c.2716T>A (n.2716T>A) c.2380T>A (n.2380T>A) c.8798T>A (p.Phe2933Tyr) c.2063T>A (p.Phe688Tyr) n.2319T>A c.8978T>A (p.Phe2993Tyr) c.8912T>A (p.Phe2971Tyr) c.8975T>A (p.Phe2992Tyr) c.8972T>A (p.Phe2991Tyr) c.8918T>A (p.Phe2973Tyr) c.8888T>A (p.Phe2963Tyr) c.8843T>A (p.Phe2948Tyr) c.8438T>A (p.Phe2813Tyr) c.7796T>A (p.Phe2599Tyr) c.5306T>A (p.Phe1769Tyr) | |
| 10 | g.71809880T>C | CA377133159 | CDH23 | c.8783T>C (p.Phe2928Ser) c.2716T>C (n.2716T>C) c.2380T>C (n.2380T>C) c.8798T>C (p.Phe2933Ser) c.2063T>C (p.Phe688Ser) n.2319T>C c.8978T>C (p.Phe2993Ser) c.8912T>C (p.Phe2971Ser) c.8975T>C (p.Phe2992Ser) c.8972T>C (p.Phe2991Ser) c.8918T>C (p.Phe2973Ser) c.8888T>C (p.Phe2963Ser) c.8843T>C (p.Phe2948Ser) c.8438T>C (p.Phe2813Ser) c.7796T>C (p.Phe2599Ser) c.5306T>C (p.Phe1769Ser) | |
| 10 | g.71809880T>G | CA377133160 | CDH23 | c.8783T>G (p.Phe2928Cys) c.2716T>G (n.2716T>G) c.2380T>G (n.2380T>G) c.8798T>G (p.Phe2933Cys) c.2063T>G (p.Phe688Cys) n.2319T>G c.8978T>G (p.Phe2993Cys) c.8912T>G (p.Phe2971Cys) c.8975T>G (p.Phe2992Cys) c.8972T>G (p.Phe2991Cys) c.8918T>G (p.Phe2973Cys) c.8888T>G (p.Phe2963Cys) c.8843T>G (p.Phe2948Cys) c.8438T>G (p.Phe2813Cys) c.7796T>G (p.Phe2599Cys) c.5306T>G (p.Phe1769Cys) | |
| 10 | g.71809881C>A | CA377133162 | CDH23 | c.8784C>A (p.Phe2928Leu) c.2717C>A (n.2717C>A) c.2381C>A (n.2381C>A) c.8799C>A (p.Phe2933Leu) c.2064C>A (p.Phe688Leu) n.2320C>A c.8979C>A (p.Phe2993Leu) c.8913C>A (p.Phe2971Leu) c.8976C>A (p.Phe2992Leu) c.8973C>A (p.Phe2991Leu) c.8919C>A (p.Phe2973Leu) c.8889C>A (p.Phe2963Leu) c.8844C>A (p.Phe2948Leu) c.8439C>A (p.Phe2813Leu) c.7797C>A (p.Phe2599Leu) c.5307C>A (p.Phe1769Leu) | |
| 10 | g.71809881C= | CA1918889066 | CDH23 | c.8784C= (p.Phe2928=) c.2717C= (n.2717C=) c.2381C= (n.2381C=) c.8799C= (p.Phe2933=) c.2064C= (p.Phe688=) n.2320C= c.8979C= (p.Phe2993=) c.8913C= (p.Phe2971=) c.8976C= (p.Phe2992=) c.8973C= (p.Phe2991=) c.8919C= (p.Phe2973=) c.8889C= (p.Phe2963=) c.8844C= (p.Phe2948=) c.8439C= (p.Phe2813=) c.7797C= (p.Phe2599=) c.5307C= (p.Phe1769=) |