UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.71799537G>A | CA377159295 | CDH23 | c.7270G>A (p.Val2424Ile) c.1203G>A (n.1203G>A) c.867G>A (n.867G>A) c.7285G>A (p.Val2429Ile) c.550G>A (p.Val184Ile) n.806G>A c.7465G>A (p.Val2489Ile) c.7399G>A (p.Val2467Ile) c.7462G>A (p.Val2488Ile) c.7459G>A (p.Val2487Ile) c.7405G>A (p.Val2469Ile) c.7375G>A (p.Val2459Ile) c.7330G>A (p.Val2444Ile) c.6925G>A (p.Val2309Ile) c.6283G>A (p.Val2095Ile) c.3793G>A (p.Val1265Ile) | gnomAD v4 |
| 10 | g.71799537G>C | CA377159297 | CDH23 | c.7270G>C (p.Val2424Leu) c.1203G>C (n.1203G>C) c.867G>C (n.867G>C) c.7285G>C (p.Val2429Leu) c.550G>C (p.Val184Leu) n.806G>C c.7465G>C (p.Val2489Leu) c.7399G>C (p.Val2467Leu) c.7462G>C (p.Val2488Leu) c.7459G>C (p.Val2487Leu) c.7405G>C (p.Val2469Leu) c.7375G>C (p.Val2459Leu) c.7330G>C (p.Val2444Leu) c.6925G>C (p.Val2309Leu) c.6283G>C (p.Val2095Leu) c.3793G>C (p.Val1265Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.71799537G= | CA1918878919 | CDH23 | c.7270G= (p.Val2424=) c.1203G= (n.1203G=) c.867G= (n.867G=) c.7285G= (p.Val2429=) c.550G= (p.Val184=) n.806G= c.7465G= (p.Val2489=) c.7399G= (p.Val2467=) c.7462G= (p.Val2488=) c.7459G= (p.Val2487=) c.7405G= (p.Val2469=) c.7375G= (p.Val2459=) c.7330G= (p.Val2444=) c.6925G= (p.Val2309=) c.6283G= (p.Val2095=) c.3793G= (p.Val1265=) | |
| 10 | g.71799537G>T | CA377159296 | CDH23 | c.7270G>T (p.Val2424Phe) c.1203G>T (n.1203G>T) c.867G>T (n.867G>T) c.7285G>T (p.Val2429Phe) c.550G>T (p.Val184Phe) n.806G>T c.7465G>T (p.Val2489Phe) c.7399G>T (p.Val2467Phe) c.7462G>T (p.Val2488Phe) c.7459G>T (p.Val2487Phe) c.7405G>T (p.Val2469Phe) c.7375G>T (p.Val2459Phe) c.7330G>T (p.Val2444Phe) c.6925G>T (p.Val2309Phe) c.6283G>T (p.Val2095Phe) c.3793G>T (p.Val1265Phe) | |
| 10 | g.71799538T>A | CA377159298 | CDH23 | c.7271T>A (p.Val2424Asp) c.1204T>A (n.1204T>A) c.868T>A (n.868T>A) c.7286T>A (p.Val2429Asp) c.551T>A (p.Val184Asp) n.807T>A c.7466T>A (p.Val2489Asp) c.7400T>A (p.Val2467Asp) c.7463T>A (p.Val2488Asp) c.7460T>A (p.Val2487Asp) c.7406T>A (p.Val2469Asp) c.7376T>A (p.Val2459Asp) c.7331T>A (p.Val2444Asp) c.6926T>A (p.Val2309Asp) c.6284T>A (p.Val2095Asp) c.3794T>A (p.Val1265Asp) | |
| 10 | g.71799538T>C | CA377159299 | CDH23 | c.7271T>C (p.Val2424Ala) c.1204T>C (n.1204T>C) c.868T>C (n.868T>C) c.7286T>C (p.Val2429Ala) c.551T>C (p.Val184Ala) n.807T>C c.7466T>C (p.Val2489Ala) c.7400T>C (p.Val2467Ala) c.7463T>C (p.Val2488Ala) c.7460T>C (p.Val2487Ala) c.7406T>C (p.Val2469Ala) c.7376T>C (p.Val2459Ala) c.7331T>C (p.Val2444Ala) c.6926T>C (p.Val2309Ala) c.6284T>C (p.Val2095Ala) c.3794T>C (p.Val1265Ala) | |
| 10 | g.71799538T>G | CA377159300 | CDH23 | c.7271T>G (p.Val2424Gly) c.1204T>G (n.1204T>G) c.868T>G (n.868T>G) c.7286T>G (p.Val2429Gly) c.551T>G (p.Val184Gly) n.807T>G c.7466T>G (p.Val2489Gly) c.7400T>G (p.Val2467Gly) c.7463T>G (p.Val2488Gly) c.7460T>G (p.Val2487Gly) c.7406T>G (p.Val2469Gly) c.7376T>G (p.Val2459Gly) c.7331T>G (p.Val2444Gly) c.6926T>G (p.Val2309Gly) c.6284T>G (p.Val2095Gly) c.3794T>G (p.Val1265Gly) | |
| 10 | g.71799539C>A | CA470282083 | CDH23 | c.7272C>A (p.Val2424=) c.1205C>A (n.1205C>A) c.869C>A (n.869C>A) c.7287C>A (p.Val2429=) c.552C>A (p.Val184=) n.808C>A c.7467C>A (p.Val2489=) c.7401C>A (p.Val2467=) c.7464C>A (p.Val2488=) c.7461C>A (p.Val2487=) c.7407C>A (p.Val2469=) c.7377C>A (p.Val2459=) c.7332C>A (p.Val2444=) c.6927C>A (p.Val2309=) c.6285C>A (p.Val2095=) c.3795C>A (p.Val1265=) | |
| 10 | g.71799539C>G | CA470282085 | CDH23 | c.7272C>G (p.Val2424=) c.1205C>G (n.1205C>G) c.869C>G (n.869C>G) c.7287C>G (p.Val2429=) c.552C>G (p.Val184=) n.808C>G c.7467C>G (p.Val2489=) c.7401C>G (p.Val2467=) c.7464C>G (p.Val2488=) c.7461C>G (p.Val2487=) c.7407C>G (p.Val2469=) c.7377C>G (p.Val2459=) c.7332C>G (p.Val2444=) c.6927C>G (p.Val2309=) c.6285C>G (p.Val2095=) c.3795C>G (p.Val1265=) | |
| 10 | g.71799539C>T | CA470282084 | CDH23 | c.7272C>T (p.Val2424=) c.1205C>T (n.1205C>T) c.869C>T (n.869C>T) c.7287C>T (p.Val2429=) c.552C>T (p.Val184=) n.808C>T c.7467C>T (p.Val2489=) c.7401C>T (p.Val2467=) c.7464C>T (p.Val2488=) c.7461C>T (p.Val2487=) c.7407C>T (p.Val2469=) c.7377C>T (p.Val2459=) c.7332C>T (p.Val2444=) c.6927C>T (p.Val2309=) c.6285C>T (p.Val2095=) c.3795C>T (p.Val1265=) | |
| 10 | g.71799540A>C | CA377159301 | CDH23 | c.7273A>C (p.Thr2425Pro) c.1206A>C (n.1206A>C) c.870A>C (n.870A>C) c.7288A>C (p.Thr2430Pro) c.553A>C (p.Thr185Pro) n.809A>C c.7468A>C (p.Thr2490Pro) c.7402A>C (p.Thr2468Pro) c.7465A>C (p.Thr2489Pro) c.7462A>C (p.Thr2488Pro) c.7408A>C (p.Thr2470Pro) c.7378A>C (p.Thr2460Pro) c.7333A>C (p.Thr2445Pro) c.6928A>C (p.Thr2310Pro) c.6286A>C (p.Thr2096Pro) c.3796A>C (p.Thr1266Pro) | |
| 10 | g.71799540A>G | CA377159302 | CDH23 | c.7273A>G (p.Thr2425Ala) c.1206A>G (n.1206A>G) c.870A>G (n.870A>G) c.7288A>G (p.Thr2430Ala) c.553A>G (p.Thr185Ala) n.809A>G c.7468A>G (p.Thr2490Ala) c.7402A>G (p.Thr2468Ala) c.7465A>G (p.Thr2489Ala) c.7462A>G (p.Thr2488Ala) c.7408A>G (p.Thr2470Ala) c.7378A>G (p.Thr2460Ala) c.7333A>G (p.Thr2445Ala) c.6928A>G (p.Thr2310Ala) c.6286A>G (p.Thr2096Ala) c.3796A>G (p.Thr1266Ala) | |
| 10 | g.71799540A>T | CA377159303 | CDH23 | c.7273A>T (p.Thr2425Ser) c.1206A>T (n.1206A>T) c.870A>T (n.870A>T) c.7288A>T (p.Thr2430Ser) c.553A>T (p.Thr185Ser) n.809A>T c.7468A>T (p.Thr2490Ser) c.7402A>T (p.Thr2468Ser) c.7465A>T (p.Thr2489Ser) c.7462A>T (p.Thr2488Ser) c.7408A>T (p.Thr2470Ser) c.7378A>T (p.Thr2460Ser) c.7333A>T (p.Thr2445Ser) c.6928A>T (p.Thr2310Ser) c.6286A>T (p.Thr2096Ser) c.3796A>T (p.Thr1266Ser) | |
| 10 | g.71799540_71799542delinsACT | CA1918878920 | CDH23 | c.7273_7275delinsACT (p.Thr2425=) c.1206_1208delinsACT (n.1206_1208delinsACT) c.870_872delinsACT (n.870_872delinsACT) c.7288_7290delinsACT (p.Thr2430=) c.553_555delinsACT (p.Thr185=) n.809_811delinsACT c.7468_7470delinsACT (p.Thr2490=) c.7402_7404delinsACT (p.Thr2468=) c.7465_7467delinsACT (p.Thr2489=) c.7462_7464delinsACT (p.Thr2488=) c.7408_7410delinsACT (p.Thr2470=) c.7378_7380delinsACT (p.Thr2460=) c.7333_7335delinsACT (p.Thr2445=) c.6928_6930delinsACT (p.Thr2310=) c.6286_6288delinsACT (p.Thr2096=) c.3796_3798delinsACT (p.Thr1266=) | |
| 10 | g.71799541C>A | CA377159306 | CDH23 | c.7274C>A (p.Thr2425Asn) c.1207C>A (n.1207C>A) c.871C>A (n.871C>A) c.7289C>A (p.Thr2430Asn) c.554C>A (p.Thr185Asn) n.810C>A c.7469C>A (p.Thr2490Asn) c.7403C>A (p.Thr2468Asn) c.7466C>A (p.Thr2489Asn) c.7463C>A (p.Thr2488Asn) c.7409C>A (p.Thr2470Asn) c.7379C>A (p.Thr2460Asn) c.7334C>A (p.Thr2445Asn) c.6929C>A (p.Thr2310Asn) c.6287C>A (p.Thr2096Asn) c.3797C>A (p.Thr1266Asn) | |
| 10 | g.71799541C= | CA1918878921 | CDH23 | c.7274C= (p.Thr2425=) c.1207C= (n.1207C=) c.871C= (n.871C=) c.7289C= (p.Thr2430=) c.554C= (p.Thr185=) n.810C= c.7469C= (p.Thr2490=) c.7403C= (p.Thr2468=) c.7466C= (p.Thr2489=) c.7463C= (p.Thr2488=) c.7409C= (p.Thr2470=) c.7379C= (p.Thr2460=) c.7334C= (p.Thr2445=) c.6929C= (p.Thr2310=) c.6287C= (p.Thr2096=) c.3797C= (p.Thr1266=) | |
| 10 | g.71799541C>G | CA377159307 | CDH23 | c.7274C>G (p.Thr2425Ser) c.1207C>G (n.1207C>G) c.871C>G (n.871C>G) c.7289C>G (p.Thr2430Ser) c.554C>G (p.Thr185Ser) n.810C>G c.7469C>G (p.Thr2490Ser) c.7403C>G (p.Thr2468Ser) c.7466C>G (p.Thr2489Ser) c.7463C>G (p.Thr2488Ser) c.7409C>G (p.Thr2470Ser) c.7379C>G (p.Thr2460Ser) c.7334C>G (p.Thr2445Ser) c.6929C>G (p.Thr2310Ser) c.6287C>G (p.Thr2096Ser) c.3797C>G (p.Thr1266Ser) | |
| 10 | g.71799541C>T | CA377159308 | CDH23 | c.7274C>T (p.Thr2425Ile) c.1207C>T (n.1207C>T) c.871C>T (n.871C>T) c.7289C>T (p.Thr2430Ile) c.554C>T (p.Thr185Ile) n.810C>T c.7469C>T (p.Thr2490Ile) c.7403C>T (p.Thr2468Ile) c.7466C>T (p.Thr2489Ile) c.7463C>T (p.Thr2488Ile) c.7409C>T (p.Thr2470Ile) c.7379C>T (p.Thr2460Ile) c.7334C>T (p.Thr2445Ile) c.6929C>T (p.Thr2310Ile) c.6287C>T (p.Thr2096Ile) c.3797C>T (p.Thr1266Ile) | dbSNP |
| 10 | g.71799541_71799542del | CA929793068 | CDH23 | c.7274_7275del (p.Thr2425SerfsTer3) c.1207_1208del (n.1207_1208del) c.871_872del (n.871_872del) c.7289_7290del (p.Thr2430SerfsTer3) c.554_555del (p.Thr185SerfsTer3) n.810_811del c.7469_7470del (p.Thr2490SerfsTer3) c.7403_7404del (p.Thr2468SerfsTer3) c.7466_7467del (p.Thr2489SerfsTer3) c.7463_7464del (p.Thr2488SerfsTer3) c.7409_7410del (p.Thr2470SerfsTer3) c.7379_7380del (p.Thr2460SerfsTer3) c.7334_7335del (p.Thr2445SerfsTer3) c.6929_6930del (p.Thr2310SerfsTer3) c.6287_6288del (p.Thr2096SerfsTer3) c.3797_3798del (p.Thr1266SerfsTer3) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.71799542T>A | CA470282087 | CDH23 | c.7275T>A (p.Thr2425=) c.1208T>A (n.1208T>A) c.872T>A (n.872T>A) c.7290T>A (p.Thr2430=) c.555T>A (p.Thr185=) n.811T>A c.7470T>A (p.Thr2490=) c.7404T>A (p.Thr2468=) c.7467T>A (p.Thr2489=) c.7464T>A (p.Thr2488=) c.7410T>A (p.Thr2470=) c.7380T>A (p.Thr2460=) c.7335T>A (p.Thr2445=) c.6930T>A (p.Thr2310=) c.6288T>A (p.Thr2096=) c.3798T>A (p.Thr1266=) | |
| 10 | g.71799542T>C | CA470282088 | CDH23 | c.7275T>C (p.Thr2425=) c.1208T>C (n.1208T>C) c.872T>C (n.872T>C) c.7290T>C (p.Thr2430=) c.555T>C (p.Thr185=) n.811T>C c.7470T>C (p.Thr2490=) c.7404T>C (p.Thr2468=) c.7467T>C (p.Thr2489=) c.7464T>C (p.Thr2488=) c.7410T>C (p.Thr2470=) c.7380T>C (p.Thr2460=) c.7335T>C (p.Thr2445=) c.6930T>C (p.Thr2310=) c.6288T>C (p.Thr2096=) c.3798T>C (p.Thr1266=) | |
| 10 | g.71799542T>G | CA470282090 | CDH23 | c.7275T>G (p.Thr2425=) c.1208T>G (n.1208T>G) c.872T>G (n.872T>G) c.7290T>G (p.Thr2430=) c.555T>G (p.Thr185=) n.811T>G c.7470T>G (p.Thr2490=) c.7404T>G (p.Thr2468=) c.7467T>G (p.Thr2489=) c.7464T>G (p.Thr2488=) c.7410T>G (p.Thr2470=) c.7380T>G (p.Thr2460=) c.7335T>G (p.Thr2445=) c.6930T>G (p.Thr2310=) c.6288T>G (p.Thr2096=) c.3798T>G (p.Thr1266=) | |
| 10 | g.71799543G>A | CA377159310 | CDH23 | c.7276G>A (p.Ala2426Thr) c.1209G>A (n.1209G>A) c.873G>A (n.873G>A) c.7291G>A (p.Ala2431Thr) c.556G>A (p.Ala186Thr) n.812G>A c.7471G>A (p.Ala2491Thr) c.7405G>A (p.Ala2469Thr) c.7468G>A (p.Ala2490Thr) c.7465G>A (p.Ala2489Thr) c.7411G>A (p.Ala2471Thr) c.7381G>A (p.Ala2461Thr) c.7336G>A (p.Ala2446Thr) c.6931G>A (p.Ala2311Thr) c.6289G>A (p.Ala2097Thr) c.3799G>A (p.Ala1267Thr) | |
| 10 | g.71799543G>C | CA377159312 | CDH23 | c.7276G>C (p.Ala2426Pro) c.1209G>C (n.1209G>C) c.873G>C (n.873G>C) c.7291G>C (p.Ala2431Pro) c.556G>C (p.Ala186Pro) n.812G>C c.7471G>C (p.Ala2491Pro) c.7405G>C (p.Ala2469Pro) c.7468G>C (p.Ala2490Pro) c.7465G>C (p.Ala2489Pro) c.7411G>C (p.Ala2471Pro) c.7381G>C (p.Ala2461Pro) c.7336G>C (p.Ala2446Pro) c.6931G>C (p.Ala2311Pro) c.6289G>C (p.Ala2097Pro) c.3799G>C (p.Ala1267Pro) | |
| 10 | g.71799543G>T | CA377159316 | CDH23 | c.7276G>T (p.Ala2426Ser) c.1209G>T (n.1209G>T) c.873G>T (n.873G>T) c.7291G>T (p.Ala2431Ser) c.556G>T (p.Ala186Ser) n.812G>T c.7471G>T (p.Ala2491Ser) c.7405G>T (p.Ala2469Ser) c.7468G>T (p.Ala2490Ser) c.7465G>T (p.Ala2489Ser) c.7411G>T (p.Ala2471Ser) c.7381G>T (p.Ala2461Ser) c.7336G>T (p.Ala2446Ser) c.6931G>T (p.Ala2311Ser) c.6289G>T (p.Ala2097Ser) c.3799G>T (p.Ala1267Ser) | |
| 10 | g.71799544C>A | CA377159317 | CDH23 | c.7277C>A (p.Ala2426Asp) c.1210C>A (n.1210C>A) c.874C>A (n.874C>A) c.7292C>A (p.Ala2431Asp) c.557C>A (p.Ala186Asp) n.813C>A c.7472C>A (p.Ala2491Asp) c.7406C>A (p.Ala2469Asp) c.7469C>A (p.Ala2490Asp) c.7466C>A (p.Ala2489Asp) c.7412C>A (p.Ala2471Asp) c.7382C>A (p.Ala2461Asp) c.7337C>A (p.Ala2446Asp) c.6932C>A (p.Ala2311Asp) c.6290C>A (p.Ala2097Asp) c.3800C>A (p.Ala1267Asp) | ClinVar dbSNP |
| 10 | g.71799544C= | CA1918878922 | CDH23 | c.7277C= (p.Ala2426=) c.1210C= (n.1210C=) c.874C= (n.874C=) c.7292C= (p.Ala2431=) c.557C= (p.Ala186=) n.813C= c.7472C= (p.Ala2491=) c.7406C= (p.Ala2469=) c.7469C= (p.Ala2490=) c.7466C= (p.Ala2489=) c.7412C= (p.Ala2471=) c.7382C= (p.Ala2461=) c.7337C= (p.Ala2446=) c.6932C= (p.Ala2311=) c.6290C= (p.Ala2097=) c.3800C= (p.Ala1267=) | |
| 10 | g.71799544C>G | CA377159320 | CDH23 | c.7277C>G (p.Ala2426Gly) c.1210C>G (n.1210C>G) c.874C>G (n.874C>G) c.7292C>G (p.Ala2431Gly) c.557C>G (p.Ala186Gly) n.813C>G c.7472C>G (p.Ala2491Gly) c.7406C>G (p.Ala2469Gly) c.7469C>G (p.Ala2490Gly) c.7466C>G (p.Ala2489Gly) c.7412C>G (p.Ala2471Gly) c.7382C>G (p.Ala2461Gly) c.7337C>G (p.Ala2446Gly) c.6932C>G (p.Ala2311Gly) c.6290C>G (p.Ala2097Gly) c.3800C>G (p.Ala1267Gly) | |
| 10 | g.71799544C>T | CA377159318 | CDH23 | c.7277C>T (p.Ala2426Val) c.1210C>T (n.1210C>T) c.874C>T (n.874C>T) c.7292C>T (p.Ala2431Val) c.557C>T (p.Ala186Val) n.813C>T c.7472C>T (p.Ala2491Val) c.7406C>T (p.Ala2469Val) c.7469C>T (p.Ala2490Val) c.7466C>T (p.Ala2489Val) c.7412C>T (p.Ala2471Val) c.7382C>T (p.Ala2461Val) c.7337C>T (p.Ala2446Val) c.6932C>T (p.Ala2311Val) c.6290C>T (p.Ala2097Val) c.3800C>T (p.Ala1267Val) | dbSNP gnomAD v4 |
| 10 | g.71799545C>A | CA470282091 | CDH23 | c.7278C>A (p.Ala2426=) c.1211C>A (n.1211C>A) c.875C>A (n.875C>A) c.7293C>A (p.Ala2431=) c.558C>A (p.Ala186=) n.814C>A c.7473C>A (p.Ala2491=) c.7407C>A (p.Ala2469=) c.7470C>A (p.Ala2490=) c.7467C>A (p.Ala2489=) c.7413C>A (p.Ala2471=) c.7383C>A (p.Ala2461=) c.7338C>A (p.Ala2446=) c.6933C>A (p.Ala2311=) c.6291C>A (p.Ala2097=) c.3801C>A (p.Ala1267=) | |
| 10 | g.71799545C>G | CA470282092 | CDH23 | c.7278C>G (p.Ala2426=) c.1211C>G (n.1211C>G) c.875C>G (n.875C>G) c.7293C>G (p.Ala2431=) c.558C>G (p.Ala186=) n.814C>G c.7473C>G (p.Ala2491=) c.7407C>G (p.Ala2469=) c.7470C>G (p.Ala2490=) c.7467C>G (p.Ala2489=) c.7413C>G (p.Ala2471=) c.7383C>G (p.Ala2461=) c.7338C>G (p.Ala2446=) c.6933C>G (p.Ala2311=) c.6291C>G (p.Ala2097=) c.3801C>G (p.Ala1267=) | |
| 10 | g.71799545C>T | CA470282094 | CDH23 | c.7278C>T (p.Ala2426=) c.1211C>T (n.1211C>T) c.875C>T (n.875C>T) c.7293C>T (p.Ala2431=) c.558C>T (p.Ala186=) n.814C>T c.7473C>T (p.Ala2491=) c.7407C>T (p.Ala2469=) c.7470C>T (p.Ala2490=) c.7467C>T (p.Ala2489=) c.7413C>T (p.Ala2471=) c.7383C>T (p.Ala2461=) c.7338C>T (p.Ala2446=) c.6933C>T (p.Ala2311=) c.6291C>T (p.Ala2097=) c.3801C>T (p.Ala1267=) | |
| 10 | g.71799546del | CA2695212113 | CDH23 | c.7279del (p.Thr2427LeufsTer?) c.1212del (n.1212del) c.876del (n.876del) c.7294del (p.Thr2432LeufsTer?) c.559del (p.Thr187LeufsTer?) n.815del c.7474del (p.Thr2492LeufsTer?) c.7408del (p.Thr2470LeufsTer?) c.7471del (p.Thr2491LeufsTer?) c.7468del (p.Thr2490LeufsTer?) c.7414del (p.Thr2472LeufsTer?) c.7384del (p.Thr2462LeufsTer?) c.7339del (p.Thr2447LeufsTer?) c.6934del (p.Thr2312LeufsTer?) c.6292del (p.Thr2098LeufsTer?) c.3802del (p.Thr1268LeufsTer?) | |
| 10 | g.71799546A>C | CA377159323 | CDH23 | c.7279A>C (p.Thr2427Pro) c.1212A>C (n.1212A>C) c.876A>C (n.876A>C) c.7294A>C (p.Thr2432Pro) c.559A>C (p.Thr187Pro) n.815A>C c.7474A>C (p.Thr2492Pro) c.7408A>C (p.Thr2470Pro) c.7471A>C (p.Thr2491Pro) c.7468A>C (p.Thr2490Pro) c.7414A>C (p.Thr2472Pro) c.7384A>C (p.Thr2462Pro) c.7339A>C (p.Thr2447Pro) c.6934A>C (p.Thr2312Pro) c.6292A>C (p.Thr2098Pro) c.3802A>C (p.Thr1268Pro) | |
| 10 | g.71799546A>G | CA377159324 | CDH23 | c.7279A>G (p.Thr2427Ala) c.1212A>G (n.1212A>G) c.876A>G (n.876A>G) c.7294A>G (p.Thr2432Ala) c.559A>G (p.Thr187Ala) n.815A>G c.7474A>G (p.Thr2492Ala) c.7408A>G (p.Thr2470Ala) c.7471A>G (p.Thr2491Ala) c.7468A>G (p.Thr2490Ala) c.7414A>G (p.Thr2472Ala) c.7384A>G (p.Thr2462Ala) c.7339A>G (p.Thr2447Ala) c.6934A>G (p.Thr2312Ala) c.6292A>G (p.Thr2098Ala) c.3802A>G (p.Thr1268Ala) | |
| 10 | g.71799546A>T | CA377159326 | CDH23 | c.7279A>T (p.Thr2427Ser) c.1212A>T (n.1212A>T) c.876A>T (n.876A>T) c.7294A>T (p.Thr2432Ser) c.559A>T (p.Thr187Ser) n.815A>T c.7474A>T (p.Thr2492Ser) c.7408A>T (p.Thr2470Ser) c.7471A>T (p.Thr2491Ser) c.7468A>T (p.Thr2490Ser) c.7414A>T (p.Thr2472Ser) c.7384A>T (p.Thr2462Ser) c.7339A>T (p.Thr2447Ser) c.6934A>T (p.Thr2312Ser) c.6292A>T (p.Thr2098Ser) c.3802A>T (p.Thr1268Ser) | |
| 10 | g.71799547C>A | CA377159328 | CDH23 | c.7280C>A (p.Thr2427Asn) c.1213C>A (n.1213C>A) c.877C>A (n.877C>A) c.7295C>A (p.Thr2432Asn) c.560C>A (p.Thr187Asn) n.816C>A c.7475C>A (p.Thr2492Asn) c.7409C>A (p.Thr2470Asn) c.7472C>A (p.Thr2491Asn) c.7469C>A (p.Thr2490Asn) c.7415C>A (p.Thr2472Asn) c.7385C>A (p.Thr2462Asn) c.7340C>A (p.Thr2447Asn) c.6935C>A (p.Thr2312Asn) c.6293C>A (p.Thr2098Asn) c.3803C>A (p.Thr1268Asn) | |
| 10 | g.71799547C>G | CA377159330 | CDH23 | c.7280C>G (p.Thr2427Ser) c.1213C>G (n.1213C>G) c.877C>G (n.877C>G) c.7295C>G (p.Thr2432Ser) c.560C>G (p.Thr187Ser) n.816C>G c.7475C>G (p.Thr2492Ser) c.7409C>G (p.Thr2470Ser) c.7472C>G (p.Thr2491Ser) c.7469C>G (p.Thr2490Ser) c.7415C>G (p.Thr2472Ser) c.7385C>G (p.Thr2462Ser) c.7340C>G (p.Thr2447Ser) c.6935C>G (p.Thr2312Ser) c.6293C>G (p.Thr2098Ser) c.3803C>G (p.Thr1268Ser) | gnomAD v4 |
| 10 | g.71799547C>T | CA377159331 | CDH23 | c.7280C>T (p.Thr2427Ile) c.1213C>T (n.1213C>T) c.877C>T (n.877C>T) c.7295C>T (p.Thr2432Ile) c.560C>T (p.Thr187Ile) n.816C>T c.7475C>T (p.Thr2492Ile) c.7409C>T (p.Thr2470Ile) c.7472C>T (p.Thr2491Ile) c.7469C>T (p.Thr2490Ile) c.7415C>T (p.Thr2472Ile) c.7385C>T (p.Thr2462Ile) c.7340C>T (p.Thr2447Ile) c.6935C>T (p.Thr2312Ile) c.6293C>T (p.Thr2098Ile) c.3803C>T (p.Thr1268Ile) | |
| 10 | g.71799548T>A | CA470282097 | CDH23 | c.7281T>A (p.Thr2427=) c.1214T>A (n.1214T>A) c.878T>A (n.878T>A) c.7296T>A (p.Thr2432=) c.561T>A (p.Thr187=) n.817T>A c.7476T>A (p.Thr2492=) c.7410T>A (p.Thr2470=) c.7473T>A (p.Thr2491=) c.7470T>A (p.Thr2490=) c.7416T>A (p.Thr2472=) c.7386T>A (p.Thr2462=) c.7341T>A (p.Thr2447=) c.6936T>A (p.Thr2312=) c.6294T>A (p.Thr2098=) c.3804T>A (p.Thr1268=) | |
| 10 | g.71799548T>C | CA470282098 | CDH23 | c.7281T>C (p.Thr2427=) c.1214T>C (n.1214T>C) c.878T>C (n.878T>C) c.7296T>C (p.Thr2432=) c.561T>C (p.Thr187=) n.817T>C c.7476T>C (p.Thr2492=) c.7410T>C (p.Thr2470=) c.7473T>C (p.Thr2491=) c.7470T>C (p.Thr2490=) c.7416T>C (p.Thr2472=) c.7386T>C (p.Thr2462=) c.7341T>C (p.Thr2447=) c.6936T>C (p.Thr2312=) c.6294T>C (p.Thr2098=) c.3804T>C (p.Thr1268=) | |
| 10 | g.71799548T>G | CA470282099 | CDH23 | c.7281T>G (p.Thr2427=) c.1214T>G (n.1214T>G) c.878T>G (n.878T>G) c.7296T>G (p.Thr2432=) c.561T>G (p.Thr187=) n.817T>G c.7476T>G (p.Thr2492=) c.7410T>G (p.Thr2470=) c.7473T>G (p.Thr2491=) c.7470T>G (p.Thr2490=) c.7416T>G (p.Thr2472=) c.7386T>G (p.Thr2462=) c.7341T>G (p.Thr2447=) c.6936T>G (p.Thr2312=) c.6294T>G (p.Thr2098=) c.3804T>G (p.Thr1268=) | |
| 10 | g.71799549G>A | CA377159332 | CDH23 | c.7282G>A (p.Asp2428Asn) c.1215G>A (n.1215G>A) c.879G>A (n.879G>A) c.7297G>A (p.Asp2433Asn) c.562G>A (p.Asp188Asn) n.818G>A c.7477G>A (p.Asp2493Asn) c.7411G>A (p.Asp2471Asn) c.7474G>A (p.Asp2492Asn) c.7471G>A (p.Asp2491Asn) c.7417G>A (p.Asp2473Asn) c.7387G>A (p.Asp2463Asn) c.7342G>A (p.Asp2448Asn) c.6937G>A (p.Asp2313Asn) c.6295G>A (p.Asp2099Asn) c.3805G>A (p.Asp1269Asn) | |
| 10 | g.71799549G>C | CA377159334 | CDH23 | c.7282G>C (p.Asp2428His) c.1215G>C (n.1215G>C) c.879G>C (n.879G>C) c.7297G>C (p.Asp2433His) c.562G>C (p.Asp188His) n.818G>C c.7477G>C (p.Asp2493His) c.7411G>C (p.Asp2471His) c.7474G>C (p.Asp2492His) c.7471G>C (p.Asp2491His) c.7417G>C (p.Asp2473His) c.7387G>C (p.Asp2463His) c.7342G>C (p.Asp2448His) c.6937G>C (p.Asp2313His) c.6295G>C (p.Asp2099His) c.3805G>C (p.Asp1269His) | |
| 10 | g.71799549G>T | CA377159335 | CDH23 | c.7282G>T (p.Asp2428Tyr) c.1215G>T (n.1215G>T) c.879G>T (n.879G>T) c.7297G>T (p.Asp2433Tyr) c.562G>T (p.Asp188Tyr) n.818G>T c.7477G>T (p.Asp2493Tyr) c.7411G>T (p.Asp2471Tyr) c.7474G>T (p.Asp2492Tyr) c.7471G>T (p.Asp2491Tyr) c.7417G>T (p.Asp2473Tyr) c.7387G>T (p.Asp2463Tyr) c.7342G>T (p.Asp2448Tyr) c.6937G>T (p.Asp2313Tyr) c.6295G>T (p.Asp2099Tyr) c.3805G>T (p.Asp1269Tyr) | |
| 10 | g.71799550A>C | CA377159336 | CDH23 | c.7283A>C (p.Asp2428Ala) c.1216A>C (n.1216A>C) c.880A>C (n.880A>C) c.7298A>C (p.Asp2433Ala) c.563A>C (p.Asp188Ala) n.819A>C c.7478A>C (p.Asp2493Ala) c.7412A>C (p.Asp2471Ala) c.7475A>C (p.Asp2492Ala) c.7472A>C (p.Asp2491Ala) c.7418A>C (p.Asp2473Ala) c.7388A>C (p.Asp2463Ala) c.7343A>C (p.Asp2448Ala) c.6938A>C (p.Asp2313Ala) c.6296A>C (p.Asp2099Ala) c.3806A>C (p.Asp1269Ala) | |
| 10 | g.71799550A>G | CA377159337 | CDH23 | c.7283A>G (p.Asp2428Gly) c.1216A>G (n.1216A>G) c.880A>G (n.880A>G) c.7298A>G (p.Asp2433Gly) c.563A>G (p.Asp188Gly) n.819A>G c.7478A>G (p.Asp2493Gly) c.7412A>G (p.Asp2471Gly) c.7475A>G (p.Asp2492Gly) c.7472A>G (p.Asp2491Gly) c.7418A>G (p.Asp2473Gly) c.7388A>G (p.Asp2463Gly) c.7343A>G (p.Asp2448Gly) c.6938A>G (p.Asp2313Gly) c.6296A>G (p.Asp2099Gly) c.3806A>G (p.Asp1269Gly) | |
| 10 | g.71799550A>T | CA377159339 | CDH23 | c.7283A>T (p.Asp2428Val) c.1216A>T (n.1216A>T) c.880A>T (n.880A>T) c.7298A>T (p.Asp2433Val) c.563A>T (p.Asp188Val) n.819A>T c.7478A>T (p.Asp2493Val) c.7412A>T (p.Asp2471Val) c.7475A>T (p.Asp2492Val) c.7472A>T (p.Asp2491Val) c.7418A>T (p.Asp2473Val) c.7388A>T (p.Asp2463Val) c.7343A>T (p.Asp2448Val) c.6938A>T (p.Asp2313Val) c.6296A>T (p.Asp2099Val) c.3806A>T (p.Asp1269Val) | |
| 10 | g.71799551T>A | CA377159350 | CDH23 | c.7284T>A (p.Asp2428Glu) c.1217T>A (n.1217T>A) c.881T>A (n.881T>A) c.7299T>A (p.Asp2433Glu) c.564T>A (p.Asp188Glu) n.820T>A c.7479T>A (p.Asp2493Glu) c.7413T>A (p.Asp2471Glu) c.7476T>A (p.Asp2492Glu) c.7473T>A (p.Asp2491Glu) c.7419T>A (p.Asp2473Glu) c.7389T>A (p.Asp2463Glu) c.7344T>A (p.Asp2448Glu) c.6939T>A (p.Asp2313Glu) c.6297T>A (p.Asp2099Glu) c.3807T>A (p.Asp1269Glu) | gnomAD v4 |
| 10 | g.71799551T>C | CA5546299 | CDH23 | c.7284T>C (p.Asp2428=) c.1217T>C (n.1217T>C) c.881T>C (n.881T>C) c.7299T>C (p.Asp2433=) c.564T>C (p.Asp188=) n.820T>C c.7479T>C (p.Asp2493=) c.7413T>C (p.Asp2471=) c.7476T>C (p.Asp2492=) c.7473T>C (p.Asp2491=) c.7419T>C (p.Asp2473=) c.7389T>C (p.Asp2463=) c.7344T>C (p.Asp2448=) c.6939T>C (p.Asp2313=) c.6297T>C (p.Asp2099=) c.3807T>C (p.Asp1269=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |