Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.71799534A>C | CA377159285 | CDH23 | c.7267A>C (p.Thr2423Pro) c.1200A>C (n.1200A>C) c.864A>C (n.864A>C) c.7282A>C (p.Thr2428Pro) c.547A>C (p.Thr183Pro) n.803A>C c.7462A>C (p.Thr2488Pro) c.7396A>C (p.Thr2466Pro) c.7459A>C (p.Thr2487Pro) c.7456A>C (p.Thr2486Pro) c.7402A>C (p.Thr2468Pro) c.7372A>C (p.Thr2458Pro) c.7327A>C (p.Thr2443Pro) c.6922A>C (p.Thr2308Pro) c.6280A>C (p.Thr2094Pro) c.3790A>C (p.Thr1264Pro) | |
10 | g.71799534A>G | CA377159287 | CDH23 | c.7267A>G (p.Thr2423Ala) c.1200A>G (n.1200A>G) c.864A>G (n.864A>G) c.7282A>G (p.Thr2428Ala) c.547A>G (p.Thr183Ala) n.803A>G c.7462A>G (p.Thr2488Ala) c.7396A>G (p.Thr2466Ala) c.7459A>G (p.Thr2487Ala) c.7456A>G (p.Thr2486Ala) c.7402A>G (p.Thr2468Ala) c.7372A>G (p.Thr2458Ala) c.7327A>G (p.Thr2443Ala) c.6922A>G (p.Thr2308Ala) c.6280A>G (p.Thr2094Ala) c.3790A>G (p.Thr1264Ala) | |
10 | g.71799534A>T | CA377159289 | CDH23 | c.7267A>T (p.Thr2423Ser) c.1200A>T (n.1200A>T) c.864A>T (n.864A>T) c.7282A>T (p.Thr2428Ser) c.547A>T (p.Thr183Ser) n.803A>T c.7462A>T (p.Thr2488Ser) c.7396A>T (p.Thr2466Ser) c.7459A>T (p.Thr2487Ser) c.7456A>T (p.Thr2486Ser) c.7402A>T (p.Thr2468Ser) c.7372A>T (p.Thr2458Ser) c.7327A>T (p.Thr2443Ser) c.6922A>T (p.Thr2308Ser) c.6280A>T (p.Thr2094Ser) c.3790A>T (p.Thr1264Ser) | |
10 | g.71799535C>A | CA377159290 | CDH23 | c.7268C>A (p.Thr2423Lys) c.1201C>A (n.1201C>A) c.865C>A (n.865C>A) c.7283C>A (p.Thr2428Lys) c.548C>A (p.Thr183Lys) n.804C>A c.7463C>A (p.Thr2488Lys) c.7397C>A (p.Thr2466Lys) c.7460C>A (p.Thr2487Lys) c.7457C>A (p.Thr2486Lys) c.7403C>A (p.Thr2468Lys) c.7373C>A (p.Thr2458Lys) c.7328C>A (p.Thr2443Lys) c.6923C>A (p.Thr2308Lys) c.6281C>A (p.Thr2094Lys) c.3791C>A (p.Thr1264Lys) | |
10 | g.71799535C>G | CA377159292 | CDH23 | c.7268C>G (p.Thr2423Arg) c.1201C>G (n.1201C>G) c.865C>G (n.865C>G) c.7283C>G (p.Thr2428Arg) c.548C>G (p.Thr183Arg) n.804C>G c.7463C>G (p.Thr2488Arg) c.7397C>G (p.Thr2466Arg) c.7460C>G (p.Thr2487Arg) c.7457C>G (p.Thr2486Arg) c.7403C>G (p.Thr2468Arg) c.7373C>G (p.Thr2458Arg) c.7328C>G (p.Thr2443Arg) c.6923C>G (p.Thr2308Arg) c.6281C>G (p.Thr2094Arg) c.3791C>G (p.Thr1264Arg) | |
10 | g.71799535C>T | CA377159293 | CDH23 | c.7268C>T (p.Thr2423Ile) c.1201C>T (n.1201C>T) c.865C>T (n.865C>T) c.7283C>T (p.Thr2428Ile) c.548C>T (p.Thr183Ile) n.804C>T c.7463C>T (p.Thr2488Ile) c.7397C>T (p.Thr2466Ile) c.7460C>T (p.Thr2487Ile) c.7457C>T (p.Thr2486Ile) c.7403C>T (p.Thr2468Ile) c.7373C>T (p.Thr2458Ile) c.7328C>T (p.Thr2443Ile) c.6923C>T (p.Thr2308Ile) c.6281C>T (p.Thr2094Ile) c.3791C>T (p.Thr1264Ile) | |
10 | g.71799536A>C | CA470282077 | CDH23 | c.7269A>C (p.Thr2423=) c.1202A>C (n.1202A>C) c.866A>C (n.866A>C) c.7284A>C (p.Thr2428=) c.549A>C (p.Thr183=) n.805A>C c.7464A>C (p.Thr2488=) c.7398A>C (p.Thr2466=) c.7461A>C (p.Thr2487=) c.7458A>C (p.Thr2486=) c.7404A>C (p.Thr2468=) c.7374A>C (p.Thr2458=) c.7329A>C (p.Thr2443=) c.6924A>C (p.Thr2308=) c.6282A>C (p.Thr2094=) c.3792A>C (p.Thr1264=) | |
10 | g.71799536A>G | CA470282078 | CDH23 | c.7269A>G (p.Thr2423=) c.1202A>G (n.1202A>G) c.866A>G (n.866A>G) c.7284A>G (p.Thr2428=) c.549A>G (p.Thr183=) n.805A>G c.7464A>G (p.Thr2488=) c.7398A>G (p.Thr2466=) c.7461A>G (p.Thr2487=) c.7458A>G (p.Thr2486=) c.7404A>G (p.Thr2468=) c.7374A>G (p.Thr2458=) c.7329A>G (p.Thr2443=) c.6924A>G (p.Thr2308=) c.6282A>G (p.Thr2094=) c.3792A>G (p.Thr1264=) | |
10 | g.71799536A>T | CA470282079 | CDH23 | c.7269A>T (p.Thr2423=) c.1202A>T (n.1202A>T) c.866A>T (n.866A>T) c.7284A>T (p.Thr2428=) c.549A>T (p.Thr183=) n.805A>T c.7464A>T (p.Thr2488=) c.7398A>T (p.Thr2466=) c.7461A>T (p.Thr2487=) c.7458A>T (p.Thr2486=) c.7404A>T (p.Thr2468=) c.7374A>T (p.Thr2458=) c.7329A>T (p.Thr2443=) c.6924A>T (p.Thr2308=) c.6282A>T (p.Thr2094=) c.3792A>T (p.Thr1264=) | |
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 |
10 | g.71799551T>G | CA377159348 | CDH23 | c.7284T>G (p.Asp2428Glu) c.1217T>G (n.1217T>G) c.881T>G (n.881T>G) c.7299T>G (p.Asp2433Glu) c.564T>G (p.Asp188Glu) n.820T>G c.7479T>G (p.Asp2493Glu) c.7413T>G (p.Asp2471Glu) c.7476T>G (p.Asp2492Glu) c.7473T>G (p.Asp2491Glu) c.7419T>G (p.Asp2473Glu) c.7389T>G (p.Asp2463Glu) c.7344T>G (p.Asp2448Glu) c.6939T>G (p.Asp2313Glu) c.6297T>G (p.Asp2099Glu) c.3807T>G (p.Asp1269Glu) | |
10 | g.71799551T= | CA1918878923 | CDH23 | c.7284T= (p.Asp2428=) c.1217T= (n.1217T=) c.881T= (n.881T=) c.7299T= (p.Asp2433=) c.564T= (p.Asp188=) n.820T= c.7479T= (p.Asp2493=) c.7413T= (p.Asp2471=) c.7476T= (p.Asp2492=) c.7473T= (p.Asp2491=) c.7419T= (p.Asp2473=) c.7389T= (p.Asp2463=) c.7344T= (p.Asp2448=) c.6939T= (p.Asp2313=) c.6297T= (p.Asp2099=) c.3807T= (p.Asp1269=) | |
10 | g.71799552G>A | CA377159355 | CDH23 | c.7285G>A (p.Ala2429Thr) c.1218G>A (n.1218G>A) c.882G>A (n.882G>A) c.7300G>A (p.Ala2434Thr) c.565G>A (p.Ala189Thr) n.821G>A c.7480G>A (p.Ala2494Thr) c.7414G>A (p.Ala2472Thr) c.7477G>A (p.Ala2493Thr) c.7474G>A (p.Ala2492Thr) c.7420G>A (p.Ala2474Thr) c.7390G>A (p.Ala2464Thr) c.7345G>A (p.Ala2449Thr) c.6940G>A (p.Ala2314Thr) c.6298G>A (p.Ala2100Thr) c.3808G>A (p.Ala1270Thr) | |
10 | g.71799552G>C | CA377159359 | CDH23 | c.7285G>C (p.Ala2429Pro) c.1218G>C (n.1218G>C) c.882G>C (n.882G>C) c.7300G>C (p.Ala2434Pro) c.565G>C (p.Ala189Pro) n.821G>C c.7480G>C (p.Ala2494Pro) c.7414G>C (p.Ala2472Pro) c.7477G>C (p.Ala2493Pro) c.7474G>C (p.Ala2492Pro) c.7420G>C (p.Ala2474Pro) c.7390G>C (p.Ala2464Pro) c.7345G>C (p.Ala2449Pro) c.6940G>C (p.Ala2314Pro) c.6298G>C (p.Ala2100Pro) c.3808G>C (p.Ala1270Pro) | |
10 | g.71799552G>T | CA377159360 | CDH23 | c.7285G>T (p.Ala2429Ser) c.1218G>T (n.1218G>T) c.882G>T (n.882G>T) c.7300G>T (p.Ala2434Ser) c.565G>T (p.Ala189Ser) n.821G>T c.7480G>T (p.Ala2494Ser) c.7414G>T (p.Ala2472Ser) c.7477G>T (p.Ala2493Ser) c.7474G>T (p.Ala2492Ser) c.7420G>T (p.Ala2474Ser) c.7390G>T (p.Ala2464Ser) c.7345G>T (p.Ala2449Ser) c.6940G>T (p.Ala2314Ser) c.6298G>T (p.Ala2100Ser) c.3808G>T (p.Ala1270Ser) | |
10 | g.71799553C>A | CA377159363 | CDH23 | c.7286C>A (p.Ala2429Asp) c.1219C>A (n.1219C>A) c.883C>A (n.883C>A) c.7301C>A (p.Ala2434Asp) c.566C>A (p.Ala189Asp) n.822C>A c.7481C>A (p.Ala2494Asp) c.7415C>A (p.Ala2472Asp) c.7478C>A (p.Ala2493Asp) c.7475C>A (p.Ala2492Asp) c.7421C>A (p.Ala2474Asp) c.7391C>A (p.Ala2464Asp) c.7346C>A (p.Ala2449Asp) c.6941C>A (p.Ala2314Asp) c.6299C>A (p.Ala2100Asp) c.3809C>A (p.Ala1270Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.71799553C= | CA1918878924 | CDH23 | c.7286C= (p.Ala2429=) c.1219C= (n.1219C=) c.883C= (n.883C=) c.7301C= (p.Ala2434=) c.566C= (p.Ala189=) n.822C= c.7481C= (p.Ala2494=) c.7415C= (p.Ala2472=) c.7478C= (p.Ala2493=) c.7475C= (p.Ala2492=) c.7421C= (p.Ala2474=) c.7391C= (p.Ala2464=) c.7346C= (p.Ala2449=) c.6941C= (p.Ala2314=) c.6299C= (p.Ala2100=) c.3809C= (p.Ala1270=) | |
10 | g.71799553C>G | CA377159364 | CDH23 | c.7286C>G (p.Ala2429Gly) c.1219C>G (n.1219C>G) c.883C>G (n.883C>G) c.7301C>G (p.Ala2434Gly) c.566C>G (p.Ala189Gly) n.822C>G c.7481C>G (p.Ala2494Gly) c.7415C>G (p.Ala2472Gly) c.7478C>G (p.Ala2493Gly) c.7475C>G (p.Ala2492Gly) c.7421C>G (p.Ala2474Gly) c.7391C>G (p.Ala2464Gly) c.7346C>G (p.Ala2449Gly) c.6941C>G (p.Ala2314Gly) c.6299C>G (p.Ala2100Gly) c.3809C>G (p.Ala1270Gly) | |
10 | g.71799553C>T | CA377159367 | CDH23 | c.7286C>T (p.Ala2429Val) c.1219C>T (n.1219C>T) c.883C>T (n.883C>T) c.7301C>T (p.Ala2434Val) c.566C>T (p.Ala189Val) n.822C>T c.7481C>T (p.Ala2494Val) c.7415C>T (p.Ala2472Val) c.7478C>T (p.Ala2493Val) c.7475C>T (p.Ala2492Val) c.7421C>T (p.Ala2474Val) c.7391C>T (p.Ala2464Val) c.7346C>T (p.Ala2449Val) c.6941C>T (p.Ala2314Val) c.6299C>T (p.Ala2100Val) c.3809C>T (p.Ala1270Val) | |
10 | g.71799554T>A | CA470282101 | CDH23 | c.7287T>A (p.Ala2429=) c.1220T>A (n.1220T>A) c.884T>A (n.884T>A) c.7302T>A (p.Ala2434=) c.567T>A (p.Ala189=) n.823T>A c.7482T>A (p.Ala2494=) c.7416T>A (p.Ala2472=) c.7479T>A (p.Ala2493=) c.7476T>A (p.Ala2492=) c.7422T>A (p.Ala2474=) c.7392T>A (p.Ala2464=) c.7347T>A (p.Ala2449=) c.6942T>A (p.Ala2314=) c.6300T>A (p.Ala2100=) c.3810T>A (p.Ala1270=) | |
10 | g.71799554T>C | CA470282102 | CDH23 | c.7287T>C (p.Ala2429=) c.1220T>C (n.1220T>C) c.884T>C (n.884T>C) c.7302T>C (p.Ala2434=) c.567T>C (p.Ala189=) n.823T>C c.7482T>C (p.Ala2494=) c.7416T>C (p.Ala2472=) c.7479T>C (p.Ala2493=) c.7476T>C (p.Ala2492=) c.7422T>C (p.Ala2474=) c.7392T>C (p.Ala2464=) c.7347T>C (p.Ala2449=) c.6942T>C (p.Ala2314=) c.6300T>C (p.Ala2100=) c.3810T>C (p.Ala1270=) | |
10 | g.71799554T>G | CA470282103 | CDH23 | c.7287T>G (p.Ala2429=) c.1220T>G (n.1220T>G) c.884T>G (n.884T>G) c.7302T>G (p.Ala2434=) c.567T>G (p.Ala189=) n.823T>G c.7482T>G (p.Ala2494=) c.7416T>G (p.Ala2472=) c.7479T>G (p.Ala2493=) c.7476T>G (p.Ala2492=) c.7422T>G (p.Ala2474=) c.7392T>G (p.Ala2464=) c.7347T>G (p.Ala2449=) c.6942T>G (p.Ala2314=) c.6300T>G (p.Ala2100=) c.3810T>G (p.Ala1270=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71799554T= | CA1918878925 | CDH23 | c.7287T= (p.Ala2429=) c.1220T= (n.1220T=) c.884T= (n.884T=) c.7302T= (p.Ala2434=) c.567T= (p.Ala189=) n.823T= c.7482T= (p.Ala2494=) c.7416T= (p.Ala2472=) c.7479T= (p.Ala2493=) c.7476T= (p.Ala2492=) c.7422T= (p.Ala2474=) c.7392T= (p.Ala2464=) c.7347T= (p.Ala2449=) c.6942T= (p.Ala2314=) c.6300T= (p.Ala2100=) c.3810T= (p.Ala1270=) | |
10 | g.71799555G>A | CA377159369 | CDH23 | c.7288G>A (p.Asp2430Asn) c.1221G>A (n.1221G>A) c.885G>A (n.885G>A) c.7303G>A (p.Asp2435Asn) c.568G>A (p.Asp190Asn) n.824G>A c.7483G>A (p.Asp2495Asn) c.7417G>A (p.Asp2473Asn) c.7480G>A (p.Asp2494Asn) c.7477G>A (p.Asp2493Asn) c.7423G>A (p.Asp2475Asn) c.7393G>A (p.Asp2465Asn) c.7348G>A (p.Asp2450Asn) c.6943G>A (p.Asp2315Asn) c.6301G>A (p.Asp2101Asn) c.3811G>A (p.Asp1271Asn) | ClinVar dbSNP COSMIC |
10 | g.71799555G>C | CA377159373 | CDH23 | c.7288G>C (p.Asp2430His) c.1221G>C (n.1221G>C) c.885G>C (n.885G>C) c.7303G>C (p.Asp2435His) c.568G>C (p.Asp190His) n.824G>C c.7483G>C (p.Asp2495His) c.7417G>C (p.Asp2473His) c.7480G>C (p.Asp2494His) c.7477G>C (p.Asp2493His) c.7423G>C (p.Asp2475His) c.7393G>C (p.Asp2465His) c.7348G>C (p.Asp2450His) c.6943G>C (p.Asp2315His) c.6301G>C (p.Asp2101His) c.3811G>C (p.Asp1271His) | |
10 | g.71799555G>T | CA377159371 | CDH23 | c.7288G>T (p.Asp2430Tyr) c.1221G>T (n.1221G>T) c.885G>T (n.885G>T) c.7303G>T (p.Asp2435Tyr) c.568G>T (p.Asp190Tyr) n.824G>T c.7483G>T (p.Asp2495Tyr) c.7417G>T (p.Asp2473Tyr) c.7480G>T (p.Asp2494Tyr) c.7477G>T (p.Asp2493Tyr) c.7423G>T (p.Asp2475Tyr) c.7393G>T (p.Asp2465Tyr) c.7348G>T (p.Asp2450Tyr) c.6943G>T (p.Asp2315Tyr) c.6301G>T (p.Asp2101Tyr) c.3811G>T (p.Asp1271Tyr) | |
10 | g.71799556A= | CA1918878926 | CDH23 | c.7289A= (p.Asp2430=) c.1222A= (n.1222A=) c.886A= (n.886A=) c.7304A= (p.Asp2435=) c.569A= (p.Asp190=) n.825A= c.7484A= (p.Asp2495=) c.7418A= (p.Asp2473=) c.7481A= (p.Asp2494=) c.7478A= (p.Asp2493=) c.7424A= (p.Asp2475=) c.7394A= (p.Asp2465=) c.7349A= (p.Asp2450=) c.6944A= (p.Asp2315=) c.6302A= (p.Asp2101=) c.3812A= (p.Asp1271=) | |
10 | g.71799556A>C | CA5546300 | CDH23 | c.7289A>C (p.Asp2430Ala) c.1222A>C (n.1222A>C) c.886A>C (n.886A>C) c.7304A>C (p.Asp2435Ala) c.569A>C (p.Asp190Ala) n.825A>C c.7484A>C (p.Asp2495Ala) c.7418A>C (p.Asp2473Ala) c.7481A>C (p.Asp2494Ala) c.7478A>C (p.Asp2493Ala) c.7424A>C (p.Asp2475Ala) c.7394A>C (p.Asp2465Ala) c.7349A>C (p.Asp2450Ala) c.6944A>C (p.Asp2315Ala) c.6302A>C (p.Asp2101Ala) c.3812A>C (p.Asp1271Ala) | dbSNP ExAC gnomAD v2 |
10 | g.71799556A>G | CA377159375 | CDH23 | c.7289A>G (p.Asp2430Gly) c.1222A>G (n.1222A>G) c.886A>G (n.886A>G) c.7304A>G (p.Asp2435Gly) c.569A>G (p.Asp190Gly) n.825A>G c.7484A>G (p.Asp2495Gly) c.7418A>G (p.Asp2473Gly) c.7481A>G (p.Asp2494Gly) c.7478A>G (p.Asp2493Gly) c.7424A>G (p.Asp2475Gly) c.7394A>G (p.Asp2465Gly) c.7349A>G (p.Asp2450Gly) c.6944A>G (p.Asp2315Gly) c.6302A>G (p.Asp2101Gly) c.3812A>G (p.Asp1271Gly) | |
10 | g.71799556A>T | CA377159376 | CDH23 | c.7289A>T (p.Asp2430Val) c.1222A>T (n.1222A>T) c.886A>T (n.886A>T) c.7304A>T (p.Asp2435Val) c.569A>T (p.Asp190Val) n.825A>T c.7484A>T (p.Asp2495Val) c.7418A>T (p.Asp2473Val) c.7481A>T (p.Asp2494Val) c.7478A>T (p.Asp2493Val) c.7424A>T (p.Asp2475Val) c.7394A>T (p.Asp2465Val) c.7349A>T (p.Asp2450Val) c.6944A>T (p.Asp2315Val) c.6302A>T (p.Asp2101Val) c.3812A>T (p.Asp1271Val) | |
10 | g.71799557C>A | CA377159377 | CDH23 | c.7290C>A (p.Asp2430Glu) c.1223C>A (n.1223C>A) c.887C>A (n.887C>A) c.7305C>A (p.Asp2435Glu) c.570C>A (p.Asp190Glu) n.826C>A c.7485C>A (p.Asp2495Glu) c.7419C>A (p.Asp2473Glu) c.7482C>A (p.Asp2494Glu) c.7479C>A (p.Asp2493Glu) c.7425C>A (p.Asp2475Glu) c.7395C>A (p.Asp2465Glu) c.7350C>A (p.Asp2450Glu) c.6945C>A (p.Asp2315Glu) c.6303C>A (p.Asp2101Glu) c.3813C>A (p.Asp1271Glu) | |
10 | g.71799557C>G | CA377159378 | CDH23 | c.7290C>G (p.Asp2430Glu) c.1223C>G (n.1223C>G) c.887C>G (n.887C>G) c.7305C>G (p.Asp2435Glu) c.570C>G (p.Asp190Glu) n.826C>G c.7485C>G (p.Asp2495Glu) c.7419C>G (p.Asp2473Glu) c.7482C>G (p.Asp2494Glu) c.7479C>G (p.Asp2493Glu) c.7425C>G (p.Asp2475Glu) c.7395C>G (p.Asp2465Glu) c.7350C>G (p.Asp2450Glu) c.6945C>G (p.Asp2315Glu) c.6303C>G (p.Asp2101Glu) c.3813C>G (p.Asp1271Glu) | |
10 | g.71799557C>T | CA470282107 | CDH23 | c.7290C>T (p.Asp2430=) c.1223C>T (n.1223C>T) c.887C>T (n.887C>T) c.7305C>T (p.Asp2435=) c.570C>T (p.Asp190=) n.826C>T c.7485C>T (p.Asp2495=) c.7419C>T (p.Asp2473=) c.7482C>T (p.Asp2494=) c.7479C>T (p.Asp2493=) c.7425C>T (p.Asp2475=) c.7395C>T (p.Asp2465=) c.7350C>T (p.Asp2450=) c.6945C>T (p.Asp2315=) c.6303C>T (p.Asp2101=) c.3813C>T (p.Asp1271=) | |
10 | g.71799558T>A | CA377159387 | CDH23 | c.7291T>A (p.Ser2431Thr) c.1224T>A (n.1224T>A) c.888T>A (n.888T>A) c.7306T>A (p.Ser2436Thr) c.571T>A (p.Ser191Thr) n.827T>A c.7486T>A (p.Ser2496Thr) c.7420T>A (p.Ser2474Thr) c.7483T>A (p.Ser2495Thr) c.7480T>A (p.Ser2494Thr) c.7426T>A (p.Ser2476Thr) c.7396T>A (p.Ser2466Thr) c.7351T>A (p.Ser2451Thr) c.6946T>A (p.Ser2316Thr) c.6304T>A (p.Ser2102Thr) c.3814T>A (p.Ser1272Thr) | |
10 | g.71799558T>C | CA377159388 | CDH23 | c.7291T>C (p.Ser2431Pro) c.1224T>C (n.1224T>C) c.888T>C (n.888T>C) c.7306T>C (p.Ser2436Pro) c.571T>C (p.Ser191Pro) n.827T>C c.7486T>C (p.Ser2496Pro) c.7420T>C (p.Ser2474Pro) c.7483T>C (p.Ser2495Pro) c.7480T>C (p.Ser2494Pro) c.7426T>C (p.Ser2476Pro) c.7396T>C (p.Ser2466Pro) c.7351T>C (p.Ser2451Pro) c.6946T>C (p.Ser2316Pro) c.6304T>C (p.Ser2102Pro) c.3814T>C (p.Ser1272Pro) | |
10 | g.71799558T>G | CA377159381 | CDH23 | c.7291T>G (p.Ser2431Ala) c.1224T>G (n.1224T>G) c.888T>G (n.888T>G) c.7306T>G (p.Ser2436Ala) c.571T>G (p.Ser191Ala) n.827T>G c.7486T>G (p.Ser2496Ala) c.7420T>G (p.Ser2474Ala) c.7483T>G (p.Ser2495Ala) c.7480T>G (p.Ser2494Ala) c.7426T>G (p.Ser2476Ala) c.7396T>G (p.Ser2466Ala) c.7351T>G (p.Ser2451Ala) c.6946T>G (p.Ser2316Ala) c.6304T>G (p.Ser2102Ala) c.3814T>G (p.Ser1272Ala) | gnomAD v4 |
10 | g.71799559del | CA2609589903 | CDH23 | c.7292del (p.Ser2431Ter) c.1225del (n.1225del) c.889del (n.889del) c.7307del (p.Ser2436Ter) c.572del (p.Ser191Ter) n.828del c.7487del (p.Ser2496Ter) c.7421del (p.Ser2474Ter) c.7484del (p.Ser2495Ter) c.7481del (p.Ser2494Ter) c.7427del (p.Ser2476Ter) c.7397del (p.Ser2466Ter) c.7352del (p.Ser2451Ter) c.6947del (p.Ser2316Ter) c.6305del (p.Ser2102Ter) c.3815del (p.Ser1272Ter) | gnomAD v4 |
10 | g.71799559C>A | CA377159391 | CDH23 | c.7292C>A (p.Ser2431Ter) c.1225C>A (n.1225C>A) c.889C>A (n.889C>A) c.7307C>A (p.Ser2436Ter) c.572C>A (p.Ser191Ter) n.828C>A c.7487C>A (p.Ser2496Ter) c.7421C>A (p.Ser2474Ter) c.7484C>A (p.Ser2495Ter) c.7481C>A (p.Ser2494Ter) c.7427C>A (p.Ser2476Ter) c.7397C>A (p.Ser2466Ter) c.7352C>A (p.Ser2451Ter) c.6947C>A (p.Ser2316Ter) c.6305C>A (p.Ser2102Ter) c.3815C>A (p.Ser1272Ter) | |
10 | g.71799559C>G | CA377159390 | CDH23 | c.7292C>G (p.Ser2431Ter) c.1225C>G (n.1225C>G) c.889C>G (n.889C>G) c.7307C>G (p.Ser2436Ter) c.572C>G (p.Ser191Ter) n.828C>G c.7487C>G (p.Ser2496Ter) c.7421C>G (p.Ser2474Ter) c.7484C>G (p.Ser2495Ter) c.7481C>G (p.Ser2494Ter) c.7427C>G (p.Ser2476Ter) c.7397C>G (p.Ser2466Ter) c.7352C>G (p.Ser2451Ter) c.6947C>G (p.Ser2316Ter) c.6305C>G (p.Ser2102Ter) c.3815C>G (p.Ser1272Ter) | |
10 | g.71799559C>T | CA377159392 | CDH23 | c.7292C>T (p.Ser2431Leu) c.1225C>T (n.1225C>T) c.889C>T (n.889C>T) c.7307C>T (p.Ser2436Leu) c.572C>T (p.Ser191Leu) n.828C>T c.7487C>T (p.Ser2496Leu) c.7421C>T (p.Ser2474Leu) c.7484C>T (p.Ser2495Leu) c.7481C>T (p.Ser2494Leu) c.7427C>T (p.Ser2476Leu) c.7397C>T (p.Ser2466Leu) c.7352C>T (p.Ser2451Leu) c.6947C>T (p.Ser2316Leu) c.6305C>T (p.Ser2102Leu) c.3815C>T (p.Ser1272Leu) | |
10 | g.71799560A= | CA1918878927 | CDH23 | c.7293A= (p.Ser2431=) c.1226A= (n.1226A=) c.890A= (n.890A=) c.7308A= (p.Ser2436=) c.573A= (p.Ser191=) n.829A= c.7488A= (p.Ser2496=) c.7422A= (p.Ser2474=) c.7485A= (p.Ser2495=) c.7482A= (p.Ser2494=) c.7428A= (p.Ser2476=) c.7398A= (p.Ser2466=) c.7353A= (p.Ser2451=) c.6948A= (p.Ser2316=) c.6306A= (p.Ser2102=) c.3816A= (p.Ser1272=) | |
10 | g.71799560A>C | CA470282110 | CDH23 | c.7293A>C (p.Ser2431=) c.1226A>C (n.1226A>C) c.890A>C (n.890A>C) c.7308A>C (p.Ser2436=) c.573A>C (p.Ser191=) n.829A>C c.7488A>C (p.Ser2496=) c.7422A>C (p.Ser2474=) c.7485A>C (p.Ser2495=) c.7482A>C (p.Ser2494=) c.7428A>C (p.Ser2476=) c.7398A>C (p.Ser2466=) c.7353A>C (p.Ser2451=) c.6948A>C (p.Ser2316=) c.6306A>C (p.Ser2102=) c.3816A>C (p.Ser1272=) | ClinVar dbSNP |
10 | g.71799560A>G | CA5546301 | CDH23 | c.7293A>G (p.Ser2431=) c.1226A>G (n.1226A>G) c.890A>G (n.890A>G) c.7308A>G (p.Ser2436=) c.573A>G (p.Ser191=) n.829A>G c.7488A>G (p.Ser2496=) c.7422A>G (p.Ser2474=) c.7485A>G (p.Ser2495=) c.7482A>G (p.Ser2494=) c.7428A>G (p.Ser2476=) c.7398A>G (p.Ser2466=) c.7353A>G (p.Ser2451=) c.6948A>G (p.Ser2316=) c.6306A>G (p.Ser2102=) c.3816A>G (p.Ser1272=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71799560A>T | CA470282109 | CDH23 | c.7293A>T (p.Ser2431=) c.1226A>T (n.1226A>T) c.890A>T (n.890A>T) c.7308A>T (p.Ser2436=) c.573A>T (p.Ser191=) n.829A>T c.7488A>T (p.Ser2496=) c.7422A>T (p.Ser2474=) c.7485A>T (p.Ser2495=) c.7482A>T (p.Ser2494=) c.7428A>T (p.Ser2476=) c.7398A>T (p.Ser2466=) c.7353A>T (p.Ser2451=) c.6948A>T (p.Ser2316=) c.6306A>T (p.Ser2102=) c.3816A>T (p.Ser1272=) | ClinVar dbSNP gnomAD v4 |
10 | g.71799561G>A | CA377159401 | CDH23 | c.7294G>A (p.Gly2432Ser) c.1227G>A (n.1227G>A) c.891G>A (n.891G>A) c.7309G>A (p.Gly2437Ser) c.574G>A (p.Gly192Ser) n.830G>A c.7489G>A (p.Gly2497Ser) c.7423G>A (p.Gly2475Ser) c.7486G>A (p.Gly2496Ser) c.7483G>A (p.Gly2495Ser) c.7429G>A (p.Gly2477Ser) c.7399G>A (p.Gly2467Ser) c.7354G>A (p.Gly2452Ser) c.6949G>A (p.Gly2317Ser) c.6307G>A (p.Gly2103Ser) c.3817G>A (p.Gly1273Ser) | |
10 | g.71799561G>C | CA377159395 | CDH23 | c.7294G>C (p.Gly2432Arg) c.1227G>C (n.1227G>C) c.891G>C (n.891G>C) c.7309G>C (p.Gly2437Arg) c.574G>C (p.Gly192Arg) n.830G>C c.7489G>C (p.Gly2497Arg) c.7423G>C (p.Gly2475Arg) c.7486G>C (p.Gly2496Arg) c.7483G>C (p.Gly2495Arg) c.7429G>C (p.Gly2477Arg) c.7399G>C (p.Gly2467Arg) c.7354G>C (p.Gly2452Arg) c.6949G>C (p.Gly2317Arg) c.6307G>C (p.Gly2103Arg) c.3817G>C (p.Gly1273Arg) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71799561G= | CA1918878928 | CDH23 | c.7294G= (p.Gly2432=) c.1227G= (n.1227G=) c.891G= (n.891G=) c.7309G= (p.Gly2437=) c.574G= (p.Gly192=) n.830G= c.7489G= (p.Gly2497=) c.7423G= (p.Gly2475=) c.7486G= (p.Gly2496=) c.7483G= (p.Gly2495=) c.7429G= (p.Gly2477=) c.7399G= (p.Gly2467=) c.7354G= (p.Gly2452=) c.6949G= (p.Gly2317=) c.6307G= (p.Gly2103=) c.3817G= (p.Gly1273=) | |
10 | g.71799561G>T | CA377159400 | CDH23 | c.7294G>T (p.Gly2432Cys) c.1227G>T (n.1227G>T) c.891G>T (n.891G>T) c.7309G>T (p.Gly2437Cys) c.574G>T (p.Gly192Cys) n.830G>T c.7489G>T (p.Gly2497Cys) c.7423G>T (p.Gly2475Cys) c.7486G>T (p.Gly2496Cys) c.7483G>T (p.Gly2495Cys) c.7429G>T (p.Gly2477Cys) c.7399G>T (p.Gly2467Cys) c.7354G>T (p.Gly2452Cys) c.6949G>T (p.Gly2317Cys) c.6307G>T (p.Gly2103Cys) c.3817G>T (p.Gly1273Cys) | |
10 | g.71799562G>A | CA5546302 | CDH23 | c.7295G>A (p.Gly2432Asp) c.1228G>A (n.1228G>A) c.892G>A (n.892G>A) c.7310G>A (p.Gly2437Asp) c.575G>A (p.Gly192Asp) n.831G>A c.7490G>A (p.Gly2497Asp) c.7424G>A (p.Gly2475Asp) c.7487G>A (p.Gly2496Asp) c.7484G>A (p.Gly2495Asp) c.7430G>A (p.Gly2477Asp) c.7400G>A (p.Gly2467Asp) c.7355G>A (p.Gly2452Asp) c.6950G>A (p.Gly2317Asp) c.6308G>A (p.Gly2103Asp) c.3818G>A (p.Gly1273Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71799562G>C | CA377159402 | CDH23 | c.7295G>C (p.Gly2432Ala) c.1228G>C (n.1228G>C) c.892G>C (n.892G>C) c.7310G>C (p.Gly2437Ala) c.575G>C (p.Gly192Ala) n.831G>C c.7490G>C (p.Gly2497Ala) c.7424G>C (p.Gly2475Ala) c.7487G>C (p.Gly2496Ala) c.7484G>C (p.Gly2495Ala) c.7430G>C (p.Gly2477Ala) c.7400G>C (p.Gly2467Ala) c.7355G>C (p.Gly2452Ala) c.6950G>C (p.Gly2317Ala) c.6308G>C (p.Gly2103Ala) c.3818G>C (p.Gly1273Ala) | |
10 | g.71799562G= | CA1918878929 | CDH23 | c.7295G= (p.Gly2432=) c.1228G= (n.1228G=) c.892G= (n.892G=) c.7310G= (p.Gly2437=) c.575G= (p.Gly192=) n.831G= c.7490G= (p.Gly2497=) c.7424G= (p.Gly2475=) c.7487G= (p.Gly2496=) c.7484G= (p.Gly2495=) c.7430G= (p.Gly2477=) c.7400G= (p.Gly2467=) c.7355G= (p.Gly2452=) c.6950G= (p.Gly2317=) c.6308G= (p.Gly2103=) c.3818G= (p.Gly1273=) | |
10 | g.71799562G>T | CA377159403 | CDH23 | c.7295G>T (p.Gly2432Val) c.1228G>T (n.1228G>T) c.892G>T (n.892G>T) c.7310G>T (p.Gly2437Val) c.575G>T (p.Gly192Val) n.831G>T c.7490G>T (p.Gly2497Val) c.7424G>T (p.Gly2475Val) c.7487G>T (p.Gly2496Val) c.7484G>T (p.Gly2495Val) c.7430G>T (p.Gly2477Val) c.7400G>T (p.Gly2467Val) c.7355G>T (p.Gly2452Val) c.6950G>T (p.Gly2317Val) c.6308G>T (p.Gly2103Val) c.3818G>T (p.Gly1273Val) | |
10 | g.71799563C>A | CA470282114 | CDH23 | c.7296C>A (p.Gly2432=) c.1229C>A (n.1229C>A) c.893C>A (n.893C>A) c.7311C>A (p.Gly2437=) c.576C>A (p.Gly192=) n.832C>A c.7491C>A (p.Gly2497=) c.7425C>A (p.Gly2475=) c.7488C>A (p.Gly2496=) c.7485C>A (p.Gly2495=) c.7431C>A (p.Gly2477=) c.7401C>A (p.Gly2467=) c.7356C>A (p.Gly2452=) c.6951C>A (p.Gly2317=) c.6309C>A (p.Gly2103=) c.3819C>A (p.Gly1273=) | |
10 | g.71799563C>G | CA470282112 | CDH23 | c.7296C>G (p.Gly2432=) c.1229C>G (n.1229C>G) c.893C>G (n.893C>G) c.7311C>G (p.Gly2437=) c.576C>G (p.Gly192=) n.832C>G c.7491C>G (p.Gly2497=) c.7425C>G (p.Gly2475=) c.7488C>G (p.Gly2496=) c.7485C>G (p.Gly2495=) c.7431C>G (p.Gly2477=) c.7401C>G (p.Gly2467=) c.7356C>G (p.Gly2452=) c.6951C>G (p.Gly2317=) c.6309C>G (p.Gly2103=) c.3819C>G (p.Gly1273=) | |
10 | g.71799563C>T | CA470282113 | CDH23 | c.7296C>T (p.Gly2432=) c.1229C>T (n.1229C>T) c.893C>T (n.893C>T) c.7311C>T (p.Gly2437=) c.576C>T (p.Gly192=) n.832C>T c.7491C>T (p.Gly2497=) c.7425C>T (p.Gly2475=) c.7488C>T (p.Gly2496=) c.7485C>T (p.Gly2495=) c.7431C>T (p.Gly2477=) c.7401C>T (p.Gly2467=) c.7356C>T (p.Gly2452=) c.6951C>T (p.Gly2317=) c.6309C>T (p.Gly2103=) c.3819C>T (p.Gly1273=) | |
10 | g.71799564A>C | CA377159406 | CDH23 | c.7297A>C (p.Asn2433His) c.1230A>C (n.1230A>C) c.894A>C (n.894A>C) c.7312A>C (p.Asn2438His) c.577A>C (p.Asn193His) n.833A>C c.7492A>C (p.Asn2498His) c.7426A>C (p.Asn2476His) c.7489A>C (p.Asn2497His) c.7486A>C (p.Asn2496His) c.7432A>C (p.Asn2478His) c.7402A>C (p.Asn2468His) c.7357A>C (p.Asn2453His) c.6952A>C (p.Asn2318His) c.6310A>C (p.Asn2104His) c.3820A>C (p.Asn1274His) | |
10 | g.71799564A>G | CA377159407 | CDH23 | c.7297A>G (p.Asn2433Asp) c.1230A>G (n.1230A>G) c.894A>G (n.894A>G) c.7312A>G (p.Asn2438Asp) c.577A>G (p.Asn193Asp) n.833A>G c.7492A>G (p.Asn2498Asp) c.7426A>G (p.Asn2476Asp) c.7489A>G (p.Asn2497Asp) c.7486A>G (p.Asn2496Asp) c.7432A>G (p.Asn2478Asp) c.7402A>G (p.Asn2468Asp) c.7357A>G (p.Asn2453Asp) c.6952A>G (p.Asn2318Asp) c.6310A>G (p.Asn2104Asp) c.3820A>G (p.Asn1274Asp) | |
10 | g.71799564A>T | CA377159408 | CDH23 | c.7297A>T (p.Asn2433Tyr) c.1230A>T (n.1230A>T) c.894A>T (n.894A>T) c.7312A>T (p.Asn2438Tyr) c.577A>T (p.Asn193Tyr) n.833A>T c.7492A>T (p.Asn2498Tyr) c.7426A>T (p.Asn2476Tyr) c.7489A>T (p.Asn2497Tyr) c.7486A>T (p.Asn2496Tyr) c.7432A>T (p.Asn2478Tyr) c.7402A>T (p.Asn2468Tyr) c.7357A>T (p.Asn2453Tyr) c.6952A>T (p.Asn2318Tyr) c.6310A>T (p.Asn2104Tyr) c.3820A>T (p.Asn1274Tyr) | |
10 | g.71799565A>C | CA377159409 | CDH23 | c.7298A>C (p.Asn2433Thr) c.1231A>C (n.1231A>C) c.895A>C (n.895A>C) c.7313A>C (p.Asn2438Thr) c.578A>C (p.Asn193Thr) n.834A>C c.7493A>C (p.Asn2498Thr) c.7427A>C (p.Asn2476Thr) c.7490A>C (p.Asn2497Thr) c.7487A>C (p.Asn2496Thr) c.7433A>C (p.Asn2478Thr) c.7403A>C (p.Asn2468Thr) c.7358A>C (p.Asn2453Thr) c.6953A>C (p.Asn2318Thr) c.6311A>C (p.Asn2104Thr) c.3821A>C (p.Asn1274Thr) | |
10 | g.71799565A>G | CA377159414 | CDH23 | c.7298A>G (p.Asn2433Ser) c.1231A>G (n.1231A>G) c.895A>G (n.895A>G) c.7313A>G (p.Asn2438Ser) c.578A>G (p.Asn193Ser) n.834A>G c.7493A>G (p.Asn2498Ser) c.7427A>G (p.Asn2476Ser) c.7490A>G (p.Asn2497Ser) c.7487A>G (p.Asn2496Ser) c.7433A>G (p.Asn2478Ser) c.7403A>G (p.Asn2468Ser) c.7358A>G (p.Asn2453Ser) c.6953A>G (p.Asn2318Ser) c.6311A>G (p.Asn2104Ser) c.3821A>G (p.Asn1274Ser) | |
10 | g.71799565A>T | CA377159416 | CDH23 | c.7298A>T (p.Asn2433Ile) c.1231A>T (n.1231A>T) c.895A>T (n.895A>T) c.7313A>T (p.Asn2438Ile) c.578A>T (p.Asn193Ile) n.834A>T c.7493A>T (p.Asn2498Ile) c.7427A>T (p.Asn2476Ile) c.7490A>T (p.Asn2497Ile) c.7487A>T (p.Asn2496Ile) c.7433A>T (p.Asn2478Ile) c.7403A>T (p.Asn2468Ile) c.7358A>T (p.Asn2453Ile) c.6953A>T (p.Asn2318Ile) c.6311A>T (p.Asn2104Ile) c.3821A>T (p.Asn1274Ile) | |
10 | g.71799566C>A | CA377159418 | CDH23 | c.7299C>A (p.Asn2433Lys) c.1232C>A (n.1232C>A) c.896C>A (n.896C>A) c.7314C>A (p.Asn2438Lys) c.579C>A (p.Asn193Lys) n.835C>A c.7494C>A (p.Asn2498Lys) c.7428C>A (p.Asn2476Lys) c.7491C>A (p.Asn2497Lys) c.7488C>A (p.Asn2496Lys) c.7434C>A (p.Asn2478Lys) c.7404C>A (p.Asn2468Lys) c.7359C>A (p.Asn2453Lys) c.6954C>A (p.Asn2318Lys) c.6312C>A (p.Asn2104Lys) c.3822C>A (p.Asn1274Lys) | COSMIC |
10 | g.71799566C>G | CA377159420 | CDH23 | c.7299C>G (p.Asn2433Lys) c.1232C>G (n.1232C>G) c.896C>G (n.896C>G) c.7314C>G (p.Asn2438Lys) c.579C>G (p.Asn193Lys) n.835C>G c.7494C>G (p.Asn2498Lys) c.7428C>G (p.Asn2476Lys) c.7491C>G (p.Asn2497Lys) c.7488C>G (p.Asn2496Lys) c.7434C>G (p.Asn2478Lys) c.7404C>G (p.Asn2468Lys) c.7359C>G (p.Asn2453Lys) c.6954C>G (p.Asn2318Lys) c.6312C>G (p.Asn2104Lys) c.3822C>G (p.Asn1274Lys) | |
10 | g.71799566C>T | CA470282116 | CDH23 | c.7299C>T (p.Asn2433=) c.1232C>T (n.1232C>T) c.896C>T (n.896C>T) c.7314C>T (p.Asn2438=) c.579C>T (p.Asn193=) n.835C>T c.7494C>T (p.Asn2498=) c.7428C>T (p.Asn2476=) c.7491C>T (p.Asn2497=) c.7488C>T (p.Asn2496=) c.7434C>T (p.Asn2478=) c.7404C>T (p.Asn2468=) c.7359C>T (p.Asn2453=) c.6954C>T (p.Asn2318=) c.6312C>T (p.Asn2104=) c.3822C>T (p.Asn1274=) | gnomAD v4 |
10 | g.71799567T>A | CA377159426 | CDH23 | c.7300T>A (p.Phe2434Ile) c.1233T>A (n.1233T>A) c.897T>A (n.897T>A) c.7315T>A (p.Phe2439Ile) c.580T>A (p.Phe194Ile) n.836T>A c.7495T>A (p.Phe2499Ile) c.7429T>A (p.Phe2477Ile) c.7492T>A (p.Phe2498Ile) c.7489T>A (p.Phe2497Ile) c.7435T>A (p.Phe2479Ile) c.7405T>A (p.Phe2469Ile) c.7360T>A (p.Phe2454Ile) c.6955T>A (p.Phe2319Ile) c.6313T>A (p.Phe2105Ile) c.3823T>A (p.Phe1275Ile) | |
10 | g.71799567T>C | CA377159423 | CDH23 | c.7300T>C (p.Phe2434Leu) c.1233T>C (n.1233T>C) c.897T>C (n.897T>C) c.7315T>C (p.Phe2439Leu) c.580T>C (p.Phe194Leu) n.836T>C c.7495T>C (p.Phe2499Leu) c.7429T>C (p.Phe2477Leu) c.7492T>C (p.Phe2498Leu) c.7489T>C (p.Phe2497Leu) c.7435T>C (p.Phe2479Leu) c.7405T>C (p.Phe2469Leu) c.7360T>C (p.Phe2454Leu) c.6955T>C (p.Phe2319Leu) c.6313T>C (p.Phe2105Leu) c.3823T>C (p.Phe1275Leu) | gnomAD v4 |
10 | g.71799567T>G | CA377159422 | CDH23 | c.7300T>G (p.Phe2434Val) c.1233T>G (n.1233T>G) c.897T>G (n.897T>G) c.7315T>G (p.Phe2439Val) c.580T>G (p.Phe194Val) n.836T>G c.7495T>G (p.Phe2499Val) c.7429T>G (p.Phe2477Val) c.7492T>G (p.Phe2498Val) c.7489T>G (p.Phe2497Val) c.7435T>G (p.Phe2479Val) c.7405T>G (p.Phe2469Val) c.7360T>G (p.Phe2454Val) c.6955T>G (p.Phe2319Val) c.6313T>G (p.Phe2105Val) c.3823T>G (p.Phe1275Val) | |
10 | g.71799568T>A | CA377159428 | CDH23 | c.7301T>A (p.Phe2434Tyr) c.1234T>A (n.1234T>A) c.898T>A (n.898T>A) c.7316T>A (p.Phe2439Tyr) c.581T>A (p.Phe194Tyr) n.837T>A c.7496T>A (p.Phe2499Tyr) c.7430T>A (p.Phe2477Tyr) c.7493T>A (p.Phe2498Tyr) c.7490T>A (p.Phe2497Tyr) c.7436T>A (p.Phe2479Tyr) c.7406T>A (p.Phe2469Tyr) c.7361T>A (p.Phe2454Tyr) c.6956T>A (p.Phe2319Tyr) c.6314T>A (p.Phe2105Tyr) c.3824T>A (p.Phe1275Tyr) | |
10 | g.71799568T>C | CA377159431 | CDH23 | c.7301T>C (p.Phe2434Ser) c.1234T>C (n.1234T>C) c.898T>C (n.898T>C) c.7316T>C (p.Phe2439Ser) c.581T>C (p.Phe194Ser) n.837T>C c.7496T>C (p.Phe2499Ser) c.7430T>C (p.Phe2477Ser) c.7493T>C (p.Phe2498Ser) c.7490T>C (p.Phe2497Ser) c.7436T>C (p.Phe2479Ser) c.7406T>C (p.Phe2469Ser) c.7361T>C (p.Phe2454Ser) c.6956T>C (p.Phe2319Ser) c.6314T>C (p.Phe2105Ser) c.3824T>C (p.Phe1275Ser) | |
10 | g.71799568T>G | CA377159432 | CDH23 | c.7301T>G (p.Phe2434Cys) c.1234T>G (n.1234T>G) c.898T>G (n.898T>G) c.7316T>G (p.Phe2439Cys) c.581T>G (p.Phe194Cys) n.837T>G c.7496T>G (p.Phe2499Cys) c.7430T>G (p.Phe2477Cys) c.7493T>G (p.Phe2498Cys) c.7490T>G (p.Phe2497Cys) c.7436T>G (p.Phe2479Cys) c.7406T>G (p.Phe2469Cys) c.7361T>G (p.Phe2454Cys) c.6956T>G (p.Phe2319Cys) c.6314T>G (p.Phe2105Cys) c.3824T>G (p.Phe1275Cys) | |
10 | g.71799569T>A | CA377159434 | CDH23 | c.7302T>A (p.Phe2434Leu) c.1235T>A (n.1235T>A) c.899T>A (n.899T>A) c.7317T>A (p.Phe2439Leu) c.582T>A (p.Phe194Leu) n.838T>A c.7497T>A (p.Phe2499Leu) c.7431T>A (p.Phe2477Leu) c.7494T>A (p.Phe2498Leu) c.7491T>A (p.Phe2497Leu) c.7437T>A (p.Phe2479Leu) c.7407T>A (p.Phe2469Leu) c.7362T>A (p.Phe2454Leu) c.6957T>A (p.Phe2319Leu) c.6315T>A (p.Phe2105Leu) c.3825T>A (p.Phe1275Leu) | COSMIC |
10 | g.71799569T>C | CA470282120 | CDH23 | c.7302T>C (p.Phe2434=) c.1235T>C (n.1235T>C) c.899T>C (n.899T>C) c.7317T>C (p.Phe2439=) c.582T>C (p.Phe194=) n.838T>C c.7497T>C (p.Phe2499=) c.7431T>C (p.Phe2477=) c.7494T>C (p.Phe2498=) c.7491T>C (p.Phe2497=) c.7437T>C (p.Phe2479=) c.7407T>C (p.Phe2469=) c.7362T>C (p.Phe2454=) c.6957T>C (p.Phe2319=) c.6315T>C (p.Phe2105=) c.3825T>C (p.Phe1275=) | |
10 | g.71799569T>G | CA377159438 | CDH23 | c.7302T>G (p.Phe2434Leu) c.1235T>G (n.1235T>G) c.899T>G (n.899T>G) c.7317T>G (p.Phe2439Leu) c.582T>G (p.Phe194Leu) n.838T>G c.7497T>G (p.Phe2499Leu) c.7431T>G (p.Phe2477Leu) c.7494T>G (p.Phe2498Leu) c.7491T>G (p.Phe2497Leu) c.7437T>G (p.Phe2479Leu) c.7407T>G (p.Phe2469Leu) c.7362T>G (p.Phe2454Leu) c.6957T>G (p.Phe2319Leu) c.6315T>G (p.Phe2105Leu) c.3825T>G (p.Phe1275Leu) | |
10 | g.71799570G>A | CA377159441 | CDH23 | c.7303G>A (p.Ala2435Thr) c.1236G>A (n.1236G>A) c.900G>A (n.900G>A) c.7318G>A (p.Ala2440Thr) c.583G>A (p.Ala195Thr) n.839G>A c.7498G>A (p.Ala2500Thr) c.7432G>A (p.Ala2478Thr) c.7495G>A (p.Ala2499Thr) c.7492G>A (p.Ala2498Thr) c.7438G>A (p.Ala2480Thr) c.7408G>A (p.Ala2470Thr) c.7363G>A (p.Ala2455Thr) c.6958G>A (p.Ala2320Thr) c.6316G>A (p.Ala2106Thr) c.3826G>A (p.Ala1276Thr) | COSMIC |
10 | g.71799570G>C | CA377159447 | CDH23 | c.7303G>C (p.Ala2435Pro) c.1236G>C (n.1236G>C) c.900G>C (n.900G>C) c.7318G>C (p.Ala2440Pro) c.583G>C (p.Ala195Pro) n.839G>C c.7498G>C (p.Ala2500Pro) c.7432G>C (p.Ala2478Pro) c.7495G>C (p.Ala2499Pro) c.7492G>C (p.Ala2498Pro) c.7438G>C (p.Ala2480Pro) c.7408G>C (p.Ala2470Pro) c.7363G>C (p.Ala2455Pro) c.6958G>C (p.Ala2320Pro) c.6316G>C (p.Ala2106Pro) c.3826G>C (p.Ala1276Pro) | |
10 | g.71799570G>T | CA377159449 | CDH23 | c.7303G>T (p.Ala2435Ser) c.1236G>T (n.1236G>T) c.900G>T (n.900G>T) c.7318G>T (p.Ala2440Ser) c.583G>T (p.Ala195Ser) n.839G>T c.7498G>T (p.Ala2500Ser) c.7432G>T (p.Ala2478Ser) c.7495G>T (p.Ala2499Ser) c.7492G>T (p.Ala2498Ser) c.7438G>T (p.Ala2480Ser) c.7408G>T (p.Ala2470Ser) c.7363G>T (p.Ala2455Ser) c.6958G>T (p.Ala2320Ser) c.6316G>T (p.Ala2106Ser) c.3826G>T (p.Ala1276Ser) | ClinVar gnomAD v4 |
10 | g.71799571C>A | CA377159451 | CDH23 | c.7304C>A (p.Ala2435Glu) c.1237C>A (n.1237C>A) c.901C>A (n.901C>A) c.7319C>A (p.Ala2440Glu) c.584C>A (p.Ala195Glu) n.840C>A c.7499C>A (p.Ala2500Glu) c.7433C>A (p.Ala2478Glu) c.7496C>A (p.Ala2499Glu) c.7493C>A (p.Ala2498Glu) c.7439C>A (p.Ala2480Glu) c.7409C>A (p.Ala2470Glu) c.7364C>A (p.Ala2455Glu) c.6959C>A (p.Ala2320Glu) c.6317C>A (p.Ala2106Glu) c.3827C>A (p.Ala1276Glu) | |
10 | g.71799571C>G | CA377159467 | CDH23 | c.7304C>G (p.Ala2435Gly) c.1237C>G (n.1237C>G) c.901C>G (n.901C>G) c.7319C>G (p.Ala2440Gly) c.584C>G (p.Ala195Gly) n.840C>G c.7499C>G (p.Ala2500Gly) c.7433C>G (p.Ala2478Gly) c.7496C>G (p.Ala2499Gly) c.7493C>G (p.Ala2498Gly) c.7439C>G (p.Ala2480Gly) c.7409C>G (p.Ala2470Gly) c.7364C>G (p.Ala2455Gly) c.6959C>G (p.Ala2320Gly) c.6317C>G (p.Ala2106Gly) c.3827C>G (p.Ala1276Gly) | |
10 | g.71799571C>T | CA377159471 | CDH23 | c.7304C>T (p.Ala2435Val) c.1237C>T (n.1237C>T) c.901C>T (n.901C>T) c.7319C>T (p.Ala2440Val) c.584C>T (p.Ala195Val) n.840C>T c.7499C>T (p.Ala2500Val) c.7433C>T (p.Ala2478Val) c.7496C>T (p.Ala2499Val) c.7493C>T (p.Ala2498Val) c.7439C>T (p.Ala2480Val) c.7409C>T (p.Ala2470Val) c.7364C>T (p.Ala2455Val) c.6959C>T (p.Ala2320Val) c.6317C>T (p.Ala2106Val) c.3827C>T (p.Ala1276Val) | ClinVar dbSNP gnomAD v4 |
10 | g.71799572A>C | CA470282122 | CDH23 | c.7305A>C (p.Ala2435=) c.1238A>C (n.1238A>C) c.902A>C (n.902A>C) c.7320A>C (p.Ala2440=) c.585A>C (p.Ala195=) n.841A>C c.7500A>C (p.Ala2500=) c.7434A>C (p.Ala2478=) c.7497A>C (p.Ala2499=) c.7494A>C (p.Ala2498=) c.7440A>C (p.Ala2480=) c.7410A>C (p.Ala2470=) c.7365A>C (p.Ala2455=) c.6960A>C (p.Ala2320=) c.6318A>C (p.Ala2106=) c.3828A>C (p.Ala1276=) | gnomAD v4 |
10 | g.71799572A>G | CA470282123 | CDH23 | c.7305A>G (p.Ala2435=) c.1238A>G (n.1238A>G) c.902A>G (n.902A>G) c.7320A>G (p.Ala2440=) c.585A>G (p.Ala195=) n.841A>G c.7500A>G (p.Ala2500=) c.7434A>G (p.Ala2478=) c.7497A>G (p.Ala2499=) c.7494A>G (p.Ala2498=) c.7440A>G (p.Ala2480=) c.7410A>G (p.Ala2470=) c.7365A>G (p.Ala2455=) c.6960A>G (p.Ala2320=) c.6318A>G (p.Ala2106=) c.3828A>G (p.Ala1276=) | ClinVar dbSNP gnomAD v4 |
10 | g.71799572A>T | CA470282124 | CDH23 | c.7305A>T (p.Ala2435=) c.1238A>T (n.1238A>T) c.902A>T (n.902A>T) c.7320A>T (p.Ala2440=) c.585A>T (p.Ala195=) n.841A>T c.7500A>T (p.Ala2500=) c.7434A>T (p.Ala2478=) c.7497A>T (p.Ala2499=) c.7494A>T (p.Ala2498=) c.7440A>T (p.Ala2480=) c.7410A>T (p.Ala2470=) c.7365A>T (p.Ala2455=) c.6960A>T (p.Ala2320=) c.6318A>T (p.Ala2106=) c.3828A>T (p.Ala1276=) | |
10 | g.71799572dup | CA2695212114 | CDH23 | c.7305dup (p.Leu2436ThrfsTer3) c.1238dup (n.1238dup) c.902dup (n.902dup) c.7320dup (p.Leu2441ThrfsTer3) c.585dup (p.Leu196ThrfsTer3) n.841dup c.7500dup (p.Leu2501ThrfsTer3) c.7434dup (p.Leu2479ThrfsTer3) c.7497dup (p.Leu2500ThrfsTer3) c.7494dup (p.Leu2499ThrfsTer3) c.7440dup (p.Leu2481ThrfsTer3) c.7410dup (p.Leu2471ThrfsTer3) c.7365dup (p.Leu2456ThrfsTer3) c.6960dup (p.Leu2321ThrfsTer3) c.6318dup (p.Leu2107ThrfsTer3) c.3828dup (p.Leu1277ThrfsTer3) | |
10 | g.71799573C>A | CA377159475 | CDH23 | c.7306C>A (p.Leu2436Ile) c.1239C>A (n.1239C>A) c.903C>A (n.903C>A) c.7321C>A (p.Leu2441Ile) c.586C>A (p.Leu196Ile) n.842C>A c.7501C>A (p.Leu2501Ile) c.7435C>A (p.Leu2479Ile) c.7498C>A (p.Leu2500Ile) c.7495C>A (p.Leu2499Ile) c.7441C>A (p.Leu2481Ile) c.7411C>A (p.Leu2471Ile) c.7366C>A (p.Leu2456Ile) c.6961C>A (p.Leu2321Ile) c.6319C>A (p.Leu2107Ile) c.3829C>A (p.Leu1277Ile) | dbSNP |
10 | g.71799573C= | CA1918878930 | CDH23 | c.7306C= (p.Leu2436=) c.1239C= (n.1239C=) c.903C= (n.903C=) c.7321C= (p.Leu2441=) c.586C= (p.Leu196=) n.842C= c.7501C= (p.Leu2501=) c.7435C= (p.Leu2479=) c.7498C= (p.Leu2500=) c.7495C= (p.Leu2499=) c.7441C= (p.Leu2481=) c.7411C= (p.Leu2471=) c.7366C= (p.Leu2456=) c.6961C= (p.Leu2321=) c.6319C= (p.Leu2107=) c.3829C= (p.Leu1277=) | |
10 | g.71799573C>G | CA377159476 | CDH23 | c.7306C>G (p.Leu2436Val) c.1239C>G (n.1239C>G) c.903C>G (n.903C>G) c.7321C>G (p.Leu2441Val) c.586C>G (p.Leu196Val) n.842C>G c.7501C>G (p.Leu2501Val) c.7435C>G (p.Leu2479Val) c.7498C>G (p.Leu2500Val) c.7495C>G (p.Leu2499Val) c.7441C>G (p.Leu2481Val) c.7411C>G (p.Leu2471Val) c.7366C>G (p.Leu2456Val) c.6961C>G (p.Leu2321Val) c.6319C>G (p.Leu2107Val) c.3829C>G (p.Leu1277Val) | |
10 | g.71799573C>T | CA5546303 | CDH23 | c.7306C>T (p.Leu2436Phe) c.1239C>T (n.1239C>T) c.903C>T (n.903C>T) c.7321C>T (p.Leu2441Phe) c.586C>T (p.Leu196Phe) n.842C>T c.7501C>T (p.Leu2501Phe) c.7435C>T (p.Leu2479Phe) c.7498C>T (p.Leu2500Phe) c.7495C>T (p.Leu2499Phe) c.7441C>T (p.Leu2481Phe) c.7411C>T (p.Leu2471Phe) c.7366C>T (p.Leu2456Phe) c.6961C>T (p.Leu2321Phe) c.6319C>T (p.Leu2107Phe) c.3829C>T (p.Leu1277Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71799574T>A | CA377159485 | CDH23 | c.7307T>A (p.Leu2436His) c.1240T>A (n.1240T>A) c.904T>A (n.904T>A) c.7322T>A (p.Leu2441His) c.587T>A (p.Leu196His) n.843T>A c.7502T>A (p.Leu2501His) c.7436T>A (p.Leu2479His) c.7499T>A (p.Leu2500His) c.7496T>A (p.Leu2499His) c.7442T>A (p.Leu2481His) c.7412T>A (p.Leu2471His) c.7367T>A (p.Leu2456His) c.6962T>A (p.Leu2321His) c.6320T>A (p.Leu2107His) c.3830T>A (p.Leu1277His) | |
10 | g.71799574T>C | CA377159482 | CDH23 | c.7307T>C (p.Leu2436Pro) c.1240T>C (n.1240T>C) c.904T>C (n.904T>C) c.7322T>C (p.Leu2441Pro) c.587T>C (p.Leu196Pro) n.843T>C c.7502T>C (p.Leu2501Pro) c.7436T>C (p.Leu2479Pro) c.7499T>C (p.Leu2500Pro) c.7496T>C (p.Leu2499Pro) c.7442T>C (p.Leu2481Pro) c.7412T>C (p.Leu2471Pro) c.7367T>C (p.Leu2456Pro) c.6962T>C (p.Leu2321Pro) c.6320T>C (p.Leu2107Pro) c.3830T>C (p.Leu1277Pro) | |
10 | g.71799574T>G | CA377159479 | CDH23 | c.7307T>G (p.Leu2436Arg) c.1240T>G (n.1240T>G) c.904T>G (n.904T>G) c.7322T>G (p.Leu2441Arg) c.587T>G (p.Leu196Arg) n.843T>G c.7502T>G (p.Leu2501Arg) c.7436T>G (p.Leu2479Arg) c.7499T>G (p.Leu2500Arg) c.7496T>G (p.Leu2499Arg) c.7442T>G (p.Leu2481Arg) c.7412T>G (p.Leu2471Arg) c.7367T>G (p.Leu2456Arg) c.6962T>G (p.Leu2321Arg) c.6320T>G (p.Leu2107Arg) c.3830T>G (p.Leu1277Arg) | |
10 | g.71799575C>A | CA470282126 | CDH23 | c.7308C>A (p.Leu2436=) c.1241C>A (n.1241C>A) c.905C>A (n.905C>A) c.7323C>A (p.Leu2441=) c.588C>A (p.Leu196=) n.844C>A c.7503C>A (p.Leu2501=) c.7437C>A (p.Leu2479=) c.7500C>A (p.Leu2500=) c.7497C>A (p.Leu2499=) c.7443C>A (p.Leu2481=) c.7413C>A (p.Leu2471=) c.7368C>A (p.Leu2456=) c.6963C>A (p.Leu2321=) c.6321C>A (p.Leu2107=) c.3831C>A (p.Leu1277=) | |
10 | g.71799575C>G | CA470282127 | CDH23 | c.7308C>G (p.Leu2436=) c.1241C>G (n.1241C>G) c.905C>G (n.905C>G) c.7323C>G (p.Leu2441=) c.588C>G (p.Leu196=) n.844C>G c.7503C>G (p.Leu2501=) c.7437C>G (p.Leu2479=) c.7500C>G (p.Leu2500=) c.7497C>G (p.Leu2499=) c.7443C>G (p.Leu2481=) c.7413C>G (p.Leu2471=) c.7368C>G (p.Leu2456=) c.6963C>G (p.Leu2321=) c.6321C>G (p.Leu2107=) c.3831C>G (p.Leu1277=) | |
10 | g.71799575C>T | CA470282128 | CDH23 | c.7308C>T (p.Leu2436=) c.1241C>T (n.1241C>T) c.905C>T (n.905C>T) c.7323C>T (p.Leu2441=) c.588C>T (p.Leu196=) n.844C>T c.7503C>T (p.Leu2501=) c.7437C>T (p.Leu2479=) c.7500C>T (p.Leu2500=) c.7497C>T (p.Leu2499=) c.7443C>T (p.Leu2481=) c.7413C>T (p.Leu2471=) c.7368C>T (p.Leu2456=) c.6963C>T (p.Leu2321=) c.6321C>T (p.Leu2107=) c.3831C>T (p.Leu1277=) | gnomAD v4 |
10 | g.71799576A= | CA1918878931 | CDH23 | c.7309A= (p.Ile2437=) c.1242A= (n.1242A=) c.906A= (n.906A=) c.7324A= (p.Ile2442=) c.589A= (p.Ile197=) n.845A= c.7504A= (p.Ile2502=) c.7438A= (p.Ile2480=) c.7501A= (p.Ile2501=) c.7498A= (p.Ile2500=) c.7444A= (p.Ile2482=) c.7414A= (p.Ile2472=) c.7369A= (p.Ile2457=) c.6964A= (p.Ile2322=) c.6322A= (p.Ile2108=) c.3832A= (p.Ile1278=) | |
10 | g.71799576A>C | CA377159487 | CDH23 | c.7309A>C (p.Ile2437Leu) c.1242A>C (n.1242A>C) c.906A>C (n.906A>C) c.7324A>C (p.Ile2442Leu) c.589A>C (p.Ile197Leu) n.845A>C c.7504A>C (p.Ile2502Leu) c.7438A>C (p.Ile2480Leu) c.7501A>C (p.Ile2501Leu) c.7498A>C (p.Ile2500Leu) c.7444A>C (p.Ile2482Leu) c.7414A>C (p.Ile2472Leu) c.7369A>C (p.Ile2457Leu) c.6964A>C (p.Ile2322Leu) c.6322A>C (p.Ile2108Leu) c.3832A>C (p.Ile1278Leu) | |
10 | g.71799576A>G | CA5546304 | CDH23 | c.7309A>G (p.Ile2437Val) c.1242A>G (n.1242A>G) c.906A>G (n.906A>G) c.7324A>G (p.Ile2442Val) c.589A>G (p.Ile197Val) n.845A>G c.7504A>G (p.Ile2502Val) c.7438A>G (p.Ile2480Val) c.7501A>G (p.Ile2501Val) c.7498A>G (p.Ile2500Val) c.7444A>G (p.Ile2482Val) c.7414A>G (p.Ile2472Val) c.7369A>G (p.Ile2457Val) c.6964A>G (p.Ile2322Val) c.6322A>G (p.Ile2108Val) c.3832A>G (p.Ile1278Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71799576A>T | CA377159495 | CDH23 | c.7309A>T (p.Ile2437Phe) c.1242A>T (n.1242A>T) c.906A>T (n.906A>T) c.7324A>T (p.Ile2442Phe) c.589A>T (p.Ile197Phe) n.845A>T c.7504A>T (p.Ile2502Phe) c.7438A>T (p.Ile2480Phe) c.7501A>T (p.Ile2501Phe) c.7498A>T (p.Ile2500Phe) c.7444A>T (p.Ile2482Phe) c.7414A>T (p.Ile2472Phe) c.7369A>T (p.Ile2457Phe) c.6964A>T (p.Ile2322Phe) c.6322A>T (p.Ile2108Phe) c.3832A>T (p.Ile1278Phe) | |
10 | g.71799577T>A | CA377159499 | CDH23 | c.7310T>A (p.Ile2437Asn) c.1243T>A (n.1243T>A) c.907T>A (n.907T>A) c.7325T>A (p.Ile2442Asn) c.590T>A (p.Ile197Asn) n.846T>A c.7505T>A (p.Ile2502Asn) c.7439T>A (p.Ile2480Asn) c.7502T>A (p.Ile2501Asn) c.7499T>A (p.Ile2500Asn) c.7445T>A (p.Ile2482Asn) c.7415T>A (p.Ile2472Asn) c.7370T>A (p.Ile2457Asn) c.6965T>A (p.Ile2322Asn) c.6323T>A (p.Ile2108Asn) c.3833T>A (p.Ile1278Asn) | |
10 | g.71799577T>C | CA377159502 | CDH23 | c.7310T>C (p.Ile2437Thr) c.1243T>C (n.1243T>C) c.907T>C (n.907T>C) c.7325T>C (p.Ile2442Thr) c.590T>C (p.Ile197Thr) n.846T>C c.7505T>C (p.Ile2502Thr) c.7439T>C (p.Ile2480Thr) c.7502T>C (p.Ile2501Thr) c.7499T>C (p.Ile2500Thr) c.7445T>C (p.Ile2482Thr) c.7415T>C (p.Ile2472Thr) c.7370T>C (p.Ile2457Thr) c.6965T>C (p.Ile2322Thr) c.6323T>C (p.Ile2108Thr) c.3833T>C (p.Ile1278Thr) | |
10 | g.71799577T>G | CA377159504 | CDH23 | c.7310T>G (p.Ile2437Ser) c.1243T>G (n.1243T>G) c.907T>G (n.907T>G) c.7325T>G (p.Ile2442Ser) c.590T>G (p.Ile197Ser) n.846T>G c.7505T>G (p.Ile2502Ser) c.7439T>G (p.Ile2480Ser) c.7502T>G (p.Ile2501Ser) c.7499T>G (p.Ile2500Ser) c.7445T>G (p.Ile2482Ser) c.7415T>G (p.Ile2472Ser) c.7370T>G (p.Ile2457Ser) c.6965T>G (p.Ile2322Ser) c.6323T>G (p.Ile2108Ser) c.3833T>G (p.Ile1278Ser) | |
10 | g.71799578T>A | CA470062202 | CDH23 | c.7311T>A (p.Ile2437=) c.1244T>A (n.1244T>A) c.908T>A (n.908T>A) c.7326T>A (p.Ile2442=) c.591T>A (p.Ile197=) n.847T>A c.7506T>A (p.Ile2502=) c.7440T>A (p.Ile2480=) c.7503T>A (p.Ile2501=) c.7500T>A (p.Ile2500=) c.7446T>A (p.Ile2482=) c.7416T>A (p.Ile2472=) c.7371T>A (p.Ile2457=) c.6966T>A (p.Ile2322=) c.6324T>A (p.Ile2108=) c.3834T>A (p.Ile1278=) | |
10 | g.71799578T>C | CA470062203 | CDH23 | c.7311T>C (p.Ile2437=) c.1244T>C (n.1244T>C) c.908T>C (n.908T>C) c.7326T>C (p.Ile2442=) c.591T>C (p.Ile197=) n.847T>C c.7506T>C (p.Ile2502=) c.7440T>C (p.Ile2480=) c.7503T>C (p.Ile2501=) c.7500T>C (p.Ile2500=) c.7446T>C (p.Ile2482=) c.7416T>C (p.Ile2472=) c.7371T>C (p.Ile2457=) c.6966T>C (p.Ile2322=) c.6324T>C (p.Ile2108=) c.3834T>C (p.Ile1278=) | |
10 | g.71799578T>G | CA377159506 | CDH23 | c.7311T>G (p.Ile2437Met) c.1244T>G (n.1244T>G) c.908T>G (n.908T>G) c.7326T>G (p.Ile2442Met) c.591T>G (p.Ile197Met) n.847T>G c.7506T>G (p.Ile2502Met) c.7440T>G (p.Ile2480Met) c.7503T>G (p.Ile2501Met) c.7500T>G (p.Ile2500Met) c.7446T>G (p.Ile2482Met) c.7416T>G (p.Ile2472Met) c.7371T>G (p.Ile2457Met) c.6966T>G (p.Ile2322Met) c.6324T>G (p.Ile2108Met) c.3834T>G (p.Ile1278Met) | gnomAD v4 |
10 | g.71799579G>A | CA377159510 | CDH23 | c.7312G>A (p.Glu2438Lys) c.1245G>A (n.1245G>A) c.909G>A (n.909G>A) c.7327G>A (p.Glu2443Lys) c.592G>A (p.Glu198Lys) n.848G>A c.7507G>A (p.Glu2503Lys) c.7441G>A (p.Glu2481Lys) c.7504G>A (p.Glu2502Lys) c.7501G>A (p.Glu2501Lys) c.7447G>A (p.Glu2483Lys) c.7417G>A (p.Glu2473Lys) c.7372G>A (p.Glu2458Lys) c.6967G>A (p.Glu2323Lys) c.6325G>A (p.Glu2109Lys) c.3835G>A (p.Glu1279Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71799579G>C | CA377159512 | CDH23 | c.7312G>C (p.Glu2438Gln) c.1245G>C (n.1245G>C) c.909G>C (n.909G>C) c.7327G>C (p.Glu2443Gln) c.592G>C (p.Glu198Gln) n.848G>C c.7507G>C (p.Glu2503Gln) c.7441G>C (p.Glu2481Gln) c.7504G>C (p.Glu2502Gln) c.7501G>C (p.Glu2501Gln) c.7447G>C (p.Glu2483Gln) c.7417G>C (p.Glu2473Gln) c.7372G>C (p.Glu2458Gln) c.6967G>C (p.Glu2323Gln) c.6325G>C (p.Glu2109Gln) c.3835G>C (p.Glu1279Gln) | |
10 | g.71799579G= | CA1918878932 | CDH23 | c.7312G= (p.Glu2438=) c.1245G= (n.1245G=) c.909G= (n.909G=) c.7327G= (p.Glu2443=) c.592G= (p.Glu198=) n.848G= c.7507G= (p.Glu2503=) c.7441G= (p.Glu2481=) c.7504G= (p.Glu2502=) c.7501G= (p.Glu2501=) c.7447G= (p.Glu2483=) c.7417G= (p.Glu2473=) c.7372G= (p.Glu2458=) c.6967G= (p.Glu2323=) c.6325G= (p.Glu2109=) c.3835G= (p.Glu1279=) | |
10 | g.71799579G>T | CA377159514 | CDH23 | c.7312G>T (p.Glu2438Ter) c.1245G>T (n.1245G>T) c.909G>T (n.909G>T) c.7327G>T (p.Glu2443Ter) c.592G>T (p.Glu198Ter) n.848G>T c.7507G>T (p.Glu2503Ter) c.7441G>T (p.Glu2481Ter) c.7504G>T (p.Glu2502Ter) c.7501G>T (p.Glu2501Ter) c.7447G>T (p.Glu2483Ter) c.7417G>T (p.Glu2473Ter) c.7372G>T (p.Glu2458Ter) c.6967G>T (p.Glu2323Ter) c.6325G>T (p.Glu2109Ter) c.3835G>T (p.Glu1279Ter) | |
10 | g.71799580A>C | CA377159515 | CDH23 | c.7313A>C (p.Glu2438Ala) c.1246A>C (n.1246A>C) c.910A>C (n.910A>C) c.7328A>C (p.Glu2443Ala) c.593A>C (p.Glu198Ala) n.849A>C c.7508A>C (p.Glu2503Ala) c.7442A>C (p.Glu2481Ala) c.7505A>C (p.Glu2502Ala) c.7502A>C (p.Glu2501Ala) c.7448A>C (p.Glu2483Ala) c.7418A>C (p.Glu2473Ala) c.7373A>C (p.Glu2458Ala) c.6968A>C (p.Glu2323Ala) c.6326A>C (p.Glu2109Ala) c.3836A>C (p.Glu1279Ala) | |
10 | g.71799580A>G | CA377159519 | CDH23 | c.7313A>G (p.Glu2438Gly) c.1246A>G (n.1246A>G) c.910A>G (n.910A>G) c.7328A>G (p.Glu2443Gly) c.593A>G (p.Glu198Gly) n.849A>G c.7508A>G (p.Glu2503Gly) c.7442A>G (p.Glu2481Gly) c.7505A>G (p.Glu2502Gly) c.7502A>G (p.Glu2501Gly) c.7448A>G (p.Glu2483Gly) c.7418A>G (p.Glu2473Gly) c.7373A>G (p.Glu2458Gly) c.6968A>G (p.Glu2323Gly) c.6326A>G (p.Glu2109Gly) c.3836A>G (p.Glu1279Gly) | |
10 | g.71799580A>T | CA377159523 | CDH23 | c.7313A>T (p.Glu2438Val) c.1246A>T (n.1246A>T) c.910A>T (n.910A>T) c.7328A>T (p.Glu2443Val) c.593A>T (p.Glu198Val) n.849A>T c.7508A>T (p.Glu2503Val) c.7442A>T (p.Glu2481Val) c.7505A>T (p.Glu2502Val) c.7502A>T (p.Glu2501Val) c.7448A>T (p.Glu2483Val) c.7418A>T (p.Glu2473Val) c.7373A>T (p.Glu2458Val) c.6968A>T (p.Glu2323Val) c.6326A>T (p.Glu2109Val) c.3836A>T (p.Glu1279Val) | |
10 | g.71799581G>A | CA5546305 | CDH23 | c.7314G>A (p.Glu2438=) c.1247G>A (n.1247G>A) c.911G>A (n.911G>A) c.7329G>A (p.Glu2443=) c.594G>A (p.Glu198=) n.850G>A c.7509G>A (p.Glu2503=) c.7443G>A (p.Glu2481=) c.7506G>A (p.Glu2502=) c.7503G>A (p.Glu2501=) c.7449G>A (p.Glu2483=) c.7419G>A (p.Glu2473=) c.7374G>A (p.Glu2458=) c.6969G>A (p.Glu2323=) c.6327G>A (p.Glu2109=) c.3837G>A (p.Glu1279=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71799581G>C | CA377159527 | CDH23 | c.7314G>C (p.Glu2438Asp) c.1247G>C (n.1247G>C) c.911G>C (n.911G>C) c.7329G>C (p.Glu2443Asp) c.594G>C (p.Glu198Asp) n.850G>C c.7509G>C (p.Glu2503Asp) c.7443G>C (p.Glu2481Asp) c.7506G>C (p.Glu2502Asp) c.7503G>C (p.Glu2501Asp) c.7449G>C (p.Glu2483Asp) c.7419G>C (p.Glu2473Asp) c.7374G>C (p.Glu2458Asp) c.6969G>C (p.Glu2323Asp) c.6327G>C (p.Glu2109Asp) c.3837G>C (p.Glu1279Asp) | |
10 | g.71799581G= | CA1918878933 | CDH23 | c.7314G= (p.Glu2438=) c.1247G= (n.1247G=) c.911G= (n.911G=) c.7329G= (p.Glu2443=) c.594G= (p.Glu198=) n.850G= c.7509G= (p.Glu2503=) c.7443G= (p.Glu2481=) c.7506G= (p.Glu2502=) c.7503G= (p.Glu2501=) c.7449G= (p.Glu2483=) c.7419G= (p.Glu2473=) c.7374G= (p.Glu2458=) c.6969G= (p.Glu2323=) c.6327G= (p.Glu2109=) c.3837G= (p.Glu1279=) | |
10 | g.71799581G>T | CA377159530 | CDH23 | c.7314G>T (p.Glu2438Asp) c.1247G>T (n.1247G>T) c.911G>T (n.911G>T) c.7329G>T (p.Glu2443Asp) c.594G>T (p.Glu198Asp) n.850G>T c.7509G>T (p.Glu2503Asp) c.7443G>T (p.Glu2481Asp) c.7506G>T (p.Glu2502Asp) c.7503G>T (p.Glu2501Asp) c.7449G>T (p.Glu2483Asp) c.7419G>T (p.Glu2473Asp) c.7374G>T (p.Glu2458Asp) c.6969G>T (p.Glu2323Asp) c.6327G>T (p.Glu2109Asp) c.3837G>T (p.Glu1279Asp) | |
10 | g.71799582T>A | CA377159532 | CDH23 | c.7315T>A (p.Tyr2439Asn) c.1248T>A (n.1248T>A) c.912T>A (n.912T>A) c.7330T>A (p.Tyr2444Asn) c.595T>A (p.Tyr199Asn) n.851T>A c.7510T>A (p.Tyr2504Asn) c.7444T>A (p.Tyr2482Asn) c.7507T>A (p.Tyr2503Asn) c.7504T>A (p.Tyr2502Asn) c.7450T>A (p.Tyr2484Asn) c.7420T>A (p.Tyr2474Asn) c.7375T>A (p.Tyr2459Asn) c.6970T>A (p.Tyr2324Asn) c.6328T>A (p.Tyr2110Asn) c.3838T>A (p.Tyr1280Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.71799582T>C | CA377159539 | CDH23 | c.7315T>C (p.Tyr2439His) c.1248T>C (n.1248T>C) c.912T>C (n.912T>C) c.7330T>C (p.Tyr2444His) c.595T>C (p.Tyr199His) n.851T>C c.7510T>C (p.Tyr2504His) c.7444T>C (p.Tyr2482His) c.7507T>C (p.Tyr2503His) c.7504T>C (p.Tyr2502His) c.7450T>C (p.Tyr2484His) c.7420T>C (p.Tyr2474His) c.7375T>C (p.Tyr2459His) c.6970T>C (p.Tyr2324His) c.6328T>C (p.Tyr2110His) c.3838T>C (p.Tyr1280His) | |
10 | g.71799582T>G | CA377159542 | CDH23 | c.7315T>G (p.Tyr2439Asp) c.1248T>G (n.1248T>G) c.912T>G (n.912T>G) c.7330T>G (p.Tyr2444Asp) c.595T>G (p.Tyr199Asp) n.851T>G c.7510T>G (p.Tyr2504Asp) c.7444T>G (p.Tyr2482Asp) c.7507T>G (p.Tyr2503Asp) c.7504T>G (p.Tyr2502Asp) c.7450T>G (p.Tyr2484Asp) c.7420T>G (p.Tyr2474Asp) c.7375T>G (p.Tyr2459Asp) c.6970T>G (p.Tyr2324Asp) c.6328T>G (p.Tyr2110Asp) c.3838T>G (p.Tyr1280Asp) | |
10 | g.71799582T= | CA1918878934 | CDH23 | c.7315T= (p.Tyr2439=) c.1248T= (n.1248T=) c.912T= (n.912T=) c.7330T= (p.Tyr2444=) c.595T= (p.Tyr199=) n.851T= c.7510T= (p.Tyr2504=) c.7444T= (p.Tyr2482=) c.7507T= (p.Tyr2503=) c.7504T= (p.Tyr2502=) c.7450T= (p.Tyr2484=) c.7420T= (p.Tyr2474=) c.7375T= (p.Tyr2459=) c.6970T= (p.Tyr2324=) c.6328T= (p.Tyr2110=) c.3838T= (p.Tyr1280=) | |
10 | g.71799583A= | CA1918878935 | CDH23 | c.7316A= (p.Tyr2439=) c.1249A= (n.1249A=) c.913A= (n.913A=) c.7331A= (p.Tyr2444=) c.596A= (p.Tyr199=) n.852A= c.7511A= (p.Tyr2504=) c.7445A= (p.Tyr2482=) c.7508A= (p.Tyr2503=) c.7505A= (p.Tyr2502=) c.7451A= (p.Tyr2484=) c.7421A= (p.Tyr2474=) c.7376A= (p.Tyr2459=) c.6971A= (p.Tyr2324=) c.6329A= (p.Tyr2110=) c.3839A= (p.Tyr1280=) | |
10 | g.71799583A>C | CA377159545 | CDH23 | c.7316A>C (p.Tyr2439Ser) c.1249A>C (n.1249A>C) c.913A>C (n.913A>C) c.7331A>C (p.Tyr2444Ser) c.596A>C (p.Tyr199Ser) n.852A>C c.7511A>C (p.Tyr2504Ser) c.7445A>C (p.Tyr2482Ser) c.7508A>C (p.Tyr2503Ser) c.7505A>C (p.Tyr2502Ser) c.7451A>C (p.Tyr2484Ser) c.7421A>C (p.Tyr2474Ser) c.7376A>C (p.Tyr2459Ser) c.6971A>C (p.Tyr2324Ser) c.6329A>C (p.Tyr2110Ser) c.3839A>C (p.Tyr1280Ser) | dbSNP |
10 | g.71799583A>G | CA377159548 | CDH23 | c.7316A>G (p.Tyr2439Cys) c.1249A>G (n.1249A>G) c.913A>G (n.913A>G) c.7331A>G (p.Tyr2444Cys) c.596A>G (p.Tyr199Cys) n.852A>G c.7511A>G (p.Tyr2504Cys) c.7445A>G (p.Tyr2482Cys) c.7508A>G (p.Tyr2503Cys) c.7505A>G (p.Tyr2502Cys) c.7451A>G (p.Tyr2484Cys) c.7421A>G (p.Tyr2474Cys) c.7376A>G (p.Tyr2459Cys) c.6971A>G (p.Tyr2324Cys) c.6329A>G (p.Tyr2110Cys) c.3839A>G (p.Tyr1280Cys) | |
10 | g.71799583A>T | CA377159549 | CDH23 | c.7316A>T (p.Tyr2439Phe) c.1249A>T (n.1249A>T) c.913A>T (n.913A>T) c.7331A>T (p.Tyr2444Phe) c.596A>T (p.Tyr199Phe) n.852A>T c.7511A>T (p.Tyr2504Phe) c.7445A>T (p.Tyr2482Phe) c.7508A>T (p.Tyr2503Phe) c.7505A>T (p.Tyr2502Phe) c.7451A>T (p.Tyr2484Phe) c.7421A>T (p.Tyr2474Phe) c.7376A>T (p.Tyr2459Phe) c.6971A>T (p.Tyr2324Phe) c.6329A>T (p.Tyr2110Phe) c.3839A>T (p.Tyr1280Phe) | |
10 | g.71799584C>A | CA377159552 | CDH23 | c.7317C>A (p.Tyr2439Ter) c.1250C>A (n.1250C>A) c.914C>A (n.914C>A) c.7332C>A (p.Tyr2444Ter) c.597C>A (p.Tyr199Ter) n.853C>A c.7512C>A (p.Tyr2504Ter) c.7446C>A (p.Tyr2482Ter) c.7509C>A (p.Tyr2503Ter) c.7506C>A (p.Tyr2502Ter) c.7452C>A (p.Tyr2484Ter) c.7422C>A (p.Tyr2474Ter) c.7377C>A (p.Tyr2459Ter) c.6972C>A (p.Tyr2324Ter) c.6330C>A (p.Tyr2110Ter) c.3840C>A (p.Tyr1280Ter) | |
10 | g.71799584C= | CA1918878936 | CDH23 | c.7317C= (p.Tyr2439=) c.1250C= (n.1250C=) c.914C= (n.914C=) c.7332C= (p.Tyr2444=) c.597C= (p.Tyr199=) n.853C= c.7512C= (p.Tyr2504=) c.7446C= (p.Tyr2482=) c.7509C= (p.Tyr2503=) c.7506C= (p.Tyr2502=) c.7452C= (p.Tyr2484=) c.7422C= (p.Tyr2474=) c.7377C= (p.Tyr2459=) c.6972C= (p.Tyr2324=) c.6330C= (p.Tyr2110=) c.3840C= (p.Tyr1280=) | |
10 | g.71799584C>G | CA377159553 | CDH23 | c.7317C>G (p.Tyr2439Ter) c.1250C>G (n.1250C>G) c.914C>G (n.914C>G) c.7332C>G (p.Tyr2444Ter) c.597C>G (p.Tyr199Ter) n.853C>G c.7512C>G (p.Tyr2504Ter) c.7446C>G (p.Tyr2482Ter) c.7509C>G (p.Tyr2503Ter) c.7506C>G (p.Tyr2502Ter) c.7452C>G (p.Tyr2484Ter) c.7422C>G (p.Tyr2474Ter) c.7377C>G (p.Tyr2459Ter) c.6972C>G (p.Tyr2324Ter) c.6330C>G (p.Tyr2110Ter) c.3840C>G (p.Tyr1280Ter) | |
10 | g.71799584C>T | CA5546306 | CDH23 | c.7317C>T (p.Tyr2439=) c.1250C>T (n.1250C>T) c.914C>T (n.914C>T) c.7332C>T (p.Tyr2444=) c.597C>T (p.Tyr199=) n.853C>T c.7512C>T (p.Tyr2504=) c.7446C>T (p.Tyr2482=) c.7509C>T (p.Tyr2503=) c.7506C>T (p.Tyr2502=) c.7452C>T (p.Tyr2484=) c.7422C>T (p.Tyr2474=) c.7377C>T (p.Tyr2459=) c.6972C>T (p.Tyr2324=) c.6330C>T (p.Tyr2110=) c.3840C>T (p.Tyr1280=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71799585A>C | CA377159557 | CDH23 | c.7318A>C (p.Ser2440Arg) c.1251A>C (n.1251A>C) c.915A>C (n.915A>C) c.7333A>C (p.Ser2445Arg) c.598A>C (p.Ser200Arg) n.854A>C c.7513A>C (p.Ser2505Arg) c.7447A>C (p.Ser2483Arg) c.7510A>C (p.Ser2504Arg) c.7507A>C (p.Ser2503Arg) c.7453A>C (p.Ser2485Arg) c.7423A>C (p.Ser2475Arg) c.7378A>C (p.Ser2460Arg) c.6973A>C (p.Ser2325Arg) c.6331A>C (p.Ser2111Arg) c.3841A>C (p.Ser1281Arg) | |
10 | g.71799585A>G | CA377159559 | CDH23 | c.7318A>G (p.Ser2440Gly) c.1251A>G (n.1251A>G) c.915A>G (n.915A>G) c.7333A>G (p.Ser2445Gly) c.598A>G (p.Ser200Gly) n.854A>G c.7513A>G (p.Ser2505Gly) c.7447A>G (p.Ser2483Gly) c.7510A>G (p.Ser2504Gly) c.7507A>G (p.Ser2503Gly) c.7453A>G (p.Ser2485Gly) c.7423A>G (p.Ser2475Gly) c.7378A>G (p.Ser2460Gly) c.6973A>G (p.Ser2325Gly) c.6331A>G (p.Ser2111Gly) c.3841A>G (p.Ser1281Gly) | |
10 | g.71799585A>T | CA377159562 | CDH23 | c.7318A>T (p.Ser2440Cys) c.1251A>T (n.1251A>T) c.915A>T (n.915A>T) c.7333A>T (p.Ser2445Cys) c.598A>T (p.Ser200Cys) n.854A>T c.7513A>T (p.Ser2505Cys) c.7447A>T (p.Ser2483Cys) c.7510A>T (p.Ser2504Cys) c.7507A>T (p.Ser2503Cys) c.7453A>T (p.Ser2485Cys) c.7423A>T (p.Ser2475Cys) c.7378A>T (p.Ser2460Cys) c.6973A>T (p.Ser2325Cys) c.6331A>T (p.Ser2111Cys) c.3841A>T (p.Ser1281Cys) | |
10 | g.71799586G>A | CA377159566 | CDH23 | c.7319G>A (p.Ser2440Asn) c.1252G>A (n.1252G>A) c.916G>A (n.916G>A) c.7334G>A (p.Ser2445Asn) c.599G>A (p.Ser200Asn) n.855G>A c.7514G>A (p.Ser2505Asn) c.7448G>A (p.Ser2483Asn) c.7511G>A (p.Ser2504Asn) c.7508G>A (p.Ser2503Asn) c.7454G>A (p.Ser2485Asn) c.7424G>A (p.Ser2475Asn) c.7379G>A (p.Ser2460Asn) c.6974G>A (p.Ser2325Asn) c.6332G>A (p.Ser2111Asn) c.3842G>A (p.Ser1281Asn) | ClinVar dbSNP |
10 | g.71799586G>C | CA377159571 | CDH23 | c.7319G>C (p.Ser2440Thr) c.1252G>C (n.1252G>C) c.916G>C (n.916G>C) c.7334G>C (p.Ser2445Thr) c.599G>C (p.Ser200Thr) n.855G>C c.7514G>C (p.Ser2505Thr) c.7448G>C (p.Ser2483Thr) c.7511G>C (p.Ser2504Thr) c.7508G>C (p.Ser2503Thr) c.7454G>C (p.Ser2485Thr) c.7424G>C (p.Ser2475Thr) c.7379G>C (p.Ser2460Thr) c.6974G>C (p.Ser2325Thr) c.6332G>C (p.Ser2111Thr) c.3842G>C (p.Ser1281Thr) | |
10 | g.71799586G= | CA1918878937 | CDH23 | c.7319G= (p.Ser2440=) c.1252G= (n.1252G=) c.916G= (n.916G=) c.7334G= (p.Ser2445=) c.599G= (p.Ser200=) n.855G= c.7514G= (p.Ser2505=) c.7448G= (p.Ser2483=) c.7511G= (p.Ser2504=) c.7508G= (p.Ser2503=) c.7454G= (p.Ser2485=) c.7424G= (p.Ser2475=) c.7379G= (p.Ser2460=) c.6974G= (p.Ser2325=) c.6332G= (p.Ser2111=) c.3842G= (p.Ser1281=) | |
10 | g.71799586G>T | CA377159568 | CDH23 | c.7319G>T (p.Ser2440Ile) c.1252G>T (n.1252G>T) c.916G>T (n.916G>T) c.7334G>T (p.Ser2445Ile) c.599G>T (p.Ser200Ile) n.855G>T c.7514G>T (p.Ser2505Ile) c.7448G>T (p.Ser2483Ile) c.7511G>T (p.Ser2504Ile) c.7508G>T (p.Ser2503Ile) c.7454G>T (p.Ser2485Ile) c.7424G>T (p.Ser2475Ile) c.7379G>T (p.Ser2460Ile) c.6974G>T (p.Ser2325Ile) c.6332G>T (p.Ser2111Ile) c.3842G>T (p.Ser1281Ile) | |
10 | g.71799587C>A | CA377159573 | CDH23 | c.7320C>A (p.Ser2440Arg) c.1253C>A (n.1253C>A) c.917C>A (n.917C>A) c.7335C>A (p.Ser2445Arg) c.600C>A (p.Ser200Arg) n.856C>A c.7515C>A (p.Ser2505Arg) c.7449C>A (p.Ser2483Arg) c.7512C>A (p.Ser2504Arg) c.7509C>A (p.Ser2503Arg) c.7455C>A (p.Ser2485Arg) c.7425C>A (p.Ser2475Arg) c.7380C>A (p.Ser2460Arg) c.6975C>A (p.Ser2325Arg) c.6333C>A (p.Ser2111Arg) c.3843C>A (p.Ser1281Arg) | |
10 | g.71799587C>G | CA377159576 | CDH23 | c.7320C>G (p.Ser2440Arg) c.1253C>G (n.1253C>G) c.917C>G (n.917C>G) c.7335C>G (p.Ser2445Arg) c.600C>G (p.Ser200Arg) n.856C>G c.7515C>G (p.Ser2505Arg) c.7449C>G (p.Ser2483Arg) c.7512C>G (p.Ser2504Arg) c.7509C>G (p.Ser2503Arg) c.7455C>G (p.Ser2485Arg) c.7425C>G (p.Ser2475Arg) c.7380C>G (p.Ser2460Arg) c.6975C>G (p.Ser2325Arg) c.6333C>G (p.Ser2111Arg) c.3843C>G (p.Ser1281Arg) | |
10 | g.71799587C>T | CA470062204 | CDH23 | c.7320C>T (p.Ser2440=) c.1253C>T (n.1253C>T) c.917C>T (n.917C>T) c.7335C>T (p.Ser2445=) c.600C>T (p.Ser200=) n.856C>T c.7515C>T (p.Ser2505=) c.7449C>T (p.Ser2483=) c.7512C>T (p.Ser2504=) c.7509C>T (p.Ser2503=) c.7455C>T (p.Ser2485=) c.7425C>T (p.Ser2475=) c.7380C>T (p.Ser2460=) c.6975C>T (p.Ser2325=) c.6333C>T (p.Ser2111=) c.3843C>T (p.Ser1281=) | |
10 | g.71799588C>A | CA377159581 | CDH23 | c.7321C>A (p.Leu2441Ile) c.1254C>A (n.1254C>A) c.918C>A (n.918C>A) c.7336C>A (p.Leu2446Ile) c.601C>A (p.Leu201Ile) n.857C>A c.7516C>A (p.Leu2506Ile) c.7450C>A (p.Leu2484Ile) c.7513C>A (p.Leu2505Ile) c.7510C>A (p.Leu2504Ile) c.7456C>A (p.Leu2486Ile) c.7426C>A (p.Leu2476Ile) c.7381C>A (p.Leu2461Ile) c.6976C>A (p.Leu2326Ile) c.6334C>A (p.Leu2112Ile) c.3844C>A (p.Leu1282Ile) | |
10 | g.71799588C>G | CA377159584 | CDH23 | c.7321C>G (p.Leu2441Val) c.1254C>G (n.1254C>G) c.918C>G (n.918C>G) c.7336C>G (p.Leu2446Val) c.601C>G (p.Leu201Val) n.857C>G c.7516C>G (p.Leu2506Val) c.7450C>G (p.Leu2484Val) c.7513C>G (p.Leu2505Val) c.7510C>G (p.Leu2504Val) c.7456C>G (p.Leu2486Val) c.7426C>G (p.Leu2476Val) c.7381C>G (p.Leu2461Val) c.6976C>G (p.Leu2326Val) c.6334C>G (p.Leu2112Val) c.3844C>G (p.Leu1282Val) | |
10 | g.71799588C>T | CA377159586 | CDH23 | c.7321C>T (p.Leu2441Phe) c.1254C>T (n.1254C>T) c.918C>T (n.918C>T) c.7336C>T (p.Leu2446Phe) c.601C>T (p.Leu201Phe) n.857C>T c.7516C>T (p.Leu2506Phe) c.7450C>T (p.Leu2484Phe) c.7513C>T (p.Leu2505Phe) c.7510C>T (p.Leu2504Phe) c.7456C>T (p.Leu2486Phe) c.7426C>T (p.Leu2476Phe) c.7381C>T (p.Leu2461Phe) c.6976C>T (p.Leu2326Phe) c.6334C>T (p.Leu2112Phe) c.3844C>T (p.Leu1282Phe) | |
10 | g.71799589T>A | CA377159589 | CDH23 | c.7322T>A (p.Leu2441His) c.1255T>A (n.1255T>A) c.919T>A (n.919T>A) c.7337T>A (p.Leu2446His) c.602T>A (p.Leu201His) n.858T>A c.7517T>A (p.Leu2506His) c.7451T>A (p.Leu2484His) c.7514T>A (p.Leu2505His) c.7511T>A (p.Leu2504His) c.7457T>A (p.Leu2486His) c.7427T>A (p.Leu2476His) c.7382T>A (p.Leu2461His) c.6977T>A (p.Leu2326His) c.6335T>A (p.Leu2112His) c.3845T>A (p.Leu1282His) | |
10 | g.71799589T>C | CA377159591 | CDH23 | c.7322T>C (p.Leu2441Pro) c.1255T>C (n.1255T>C) c.919T>C (n.919T>C) c.7337T>C (p.Leu2446Pro) c.602T>C (p.Leu201Pro) n.858T>C c.7517T>C (p.Leu2506Pro) c.7451T>C (p.Leu2484Pro) c.7514T>C (p.Leu2505Pro) c.7511T>C (p.Leu2504Pro) c.7457T>C (p.Leu2486Pro) c.7427T>C (p.Leu2476Pro) c.7382T>C (p.Leu2461Pro) c.6977T>C (p.Leu2326Pro) c.6335T>C (p.Leu2112Pro) c.3845T>C (p.Leu1282Pro) | dbSNP |
10 | g.71799589T>G | CA377159593 | CDH23 | c.7322T>G (p.Leu2441Arg) c.1255T>G (n.1255T>G) c.919T>G (n.919T>G) c.7337T>G (p.Leu2446Arg) c.602T>G (p.Leu201Arg) n.858T>G c.7517T>G (p.Leu2506Arg) c.7451T>G (p.Leu2484Arg) c.7514T>G (p.Leu2505Arg) c.7511T>G (p.Leu2504Arg) c.7457T>G (p.Leu2486Arg) c.7427T>G (p.Leu2476Arg) c.7382T>G (p.Leu2461Arg) c.6977T>G (p.Leu2326Arg) c.6335T>G (p.Leu2112Arg) c.3845T>G (p.Leu1282Arg) | |
10 | g.71799590T>A | CA470062205 | CDH23 | c.7323T>A (p.Leu2441=) c.1256T>A (n.1256T>A) c.920T>A (n.920T>A) c.7338T>A (p.Leu2446=) c.603T>A (p.Leu201=) n.859T>A c.7518T>A (p.Leu2506=) c.7452T>A (p.Leu2484=) c.7515T>A (p.Leu2505=) c.7512T>A (p.Leu2504=) c.7458T>A (p.Leu2486=) c.7428T>A (p.Leu2476=) c.7383T>A (p.Leu2461=) c.6978T>A (p.Leu2326=) c.6336T>A (p.Leu2112=) c.3846T>A (p.Leu1282=) | |
10 | g.71799590T>C | CA470062206 | CDH23 | c.7323T>C (p.Leu2441=) c.1256T>C (n.1256T>C) c.920T>C (n.920T>C) c.7338T>C (p.Leu2446=) c.603T>C (p.Leu201=) n.859T>C c.7518T>C (p.Leu2506=) c.7452T>C (p.Leu2484=) c.7515T>C (p.Leu2505=) c.7512T>C (p.Leu2504=) c.7458T>C (p.Leu2486=) c.7428T>C (p.Leu2476=) c.7383T>C (p.Leu2461=) c.6978T>C (p.Leu2326=) c.6336T>C (p.Leu2112=) c.3846T>C (p.Leu1282=) | |
10 | g.71799590T>G | CA470062207 | CDH23 | c.7323T>G (p.Leu2441=) c.1256T>G (n.1256T>G) c.920T>G (n.920T>G) c.7338T>G (p.Leu2446=) c.603T>G (p.Leu201=) n.859T>G c.7518T>G (p.Leu2506=) c.7452T>G (p.Leu2484=) c.7515T>G (p.Leu2505=) c.7512T>G (p.Leu2504=) c.7458T>G (p.Leu2486=) c.7428T>G (p.Leu2476=) c.7383T>G (p.Leu2461=) c.6978T>G (p.Leu2326=) c.6336T>G (p.Leu2112=) c.3846T>G (p.Leu1282=) | |
10 | g.71799591G>A | CA377159595 | CDH23 | c.7324G>A (p.Gly2442Arg) c.1257G>A (n.1257G>A) c.921G>A (n.921G>A) c.7339G>A (p.Gly2447Arg) c.604G>A (p.Gly202Arg) n.860G>A c.7519G>A (p.Gly2507Arg) c.7453G>A (p.Gly2485Arg) c.7516G>A (p.Gly2506Arg) c.7513G>A (p.Gly2505Arg) c.7459G>A (p.Gly2487Arg) c.7429G>A (p.Gly2477Arg) c.7384G>A (p.Gly2462Arg) c.6979G>A (p.Gly2327Arg) c.6337G>A (p.Gly2113Arg) c.3847G>A (p.Gly1283Arg) | |
10 | g.71799591G>C | CA377159596 | CDH23 | c.7324G>C (p.Gly2442Arg) c.1257G>C (n.1257G>C) c.921G>C (n.921G>C) c.7339G>C (p.Gly2447Arg) c.604G>C (p.Gly202Arg) n.860G>C c.7519G>C (p.Gly2507Arg) c.7453G>C (p.Gly2485Arg) c.7516G>C (p.Gly2506Arg) c.7513G>C (p.Gly2505Arg) c.7459G>C (p.Gly2487Arg) c.7429G>C (p.Gly2477Arg) c.7384G>C (p.Gly2462Arg) c.6979G>C (p.Gly2327Arg) c.6337G>C (p.Gly2113Arg) c.3847G>C (p.Gly1283Arg) | |
10 | g.71799591G>T | CA377159598 | CDH23 | c.7324G>T (p.Gly2442Ter) c.1257G>T (n.1257G>T) c.921G>T (n.921G>T) c.7339G>T (p.Gly2447Ter) c.604G>T (p.Gly202Ter) n.860G>T c.7519G>T (p.Gly2507Ter) c.7453G>T (p.Gly2485Ter) c.7516G>T (p.Gly2506Ter) c.7513G>T (p.Gly2505Ter) c.7459G>T (p.Gly2487Ter) c.7429G>T (p.Gly2477Ter) c.7384G>T (p.Gly2462Ter) c.6979G>T (p.Gly2327Ter) c.6337G>T (p.Gly2113Ter) c.3847G>T (p.Gly1283Ter) | COSMIC |
10 | g.71799592G>A | CA377159600 | CDH23 | c.7325G>A (p.Gly2442Glu) c.1258G>A (n.1258G>A) c.922G>A (n.922G>A) c.7340G>A (p.Gly2447Glu) c.605G>A (p.Gly202Glu) n.861G>A c.7520G>A (p.Gly2507Glu) c.7454G>A (p.Gly2485Glu) c.7517G>A (p.Gly2506Glu) c.7514G>A (p.Gly2505Glu) c.7460G>A (p.Gly2487Glu) c.7430G>A (p.Gly2477Glu) c.7385G>A (p.Gly2462Glu) c.6980G>A (p.Gly2327Glu) c.6338G>A (p.Gly2113Glu) c.3848G>A (p.Gly1283Glu) | COSMIC |
10 | g.71799592G>C | CA377159601 | CDH23 | c.7325G>C (p.Gly2442Ala) c.1258G>C (n.1258G>C) c.922G>C (n.922G>C) c.7340G>C (p.Gly2447Ala) c.605G>C (p.Gly202Ala) n.861G>C c.7520G>C (p.Gly2507Ala) c.7454G>C (p.Gly2485Ala) c.7517G>C (p.Gly2506Ala) c.7514G>C (p.Gly2505Ala) c.7460G>C (p.Gly2487Ala) c.7430G>C (p.Gly2477Ala) c.7385G>C (p.Gly2462Ala) c.6980G>C (p.Gly2327Ala) c.6338G>C (p.Gly2113Ala) c.3848G>C (p.Gly1283Ala) | |
10 | g.71799592G>T | CA377159604 | CDH23 | c.7325G>T (p.Gly2442Val) c.1258G>T (n.1258G>T) c.922G>T (n.922G>T) c.7340G>T (p.Gly2447Val) c.605G>T (p.Gly202Val) n.861G>T c.7520G>T (p.Gly2507Val) c.7454G>T (p.Gly2485Val) c.7517G>T (p.Gly2506Val) c.7514G>T (p.Gly2505Val) c.7460G>T (p.Gly2487Val) c.7430G>T (p.Gly2477Val) c.7385G>T (p.Gly2462Val) c.6980G>T (p.Gly2327Val) c.6338G>T (p.Gly2113Val) c.3848G>T (p.Gly1283Val) | |
10 | g.71799593A>C | CA470062210 | CDH23 | c.7326A>C (p.Gly2442=) c.1259A>C (n.1259A>C) c.923A>C (n.923A>C) c.7341A>C (p.Gly2447=) c.606A>C (p.Gly202=) n.862A>C c.7521A>C (p.Gly2507=) c.7455A>C (p.Gly2485=) c.7518A>C (p.Gly2506=) c.7515A>C (p.Gly2505=) c.7461A>C (p.Gly2487=) c.7431A>C (p.Gly2477=) c.7386A>C (p.Gly2462=) c.6981A>C (p.Gly2327=) c.6339A>C (p.Gly2113=) c.3849A>C (p.Gly1283=) | |
10 | g.71799593A>G | CA470062208 | CDH23 | c.7326A>G (p.Gly2442=) c.1259A>G (n.1259A>G) c.923A>G (n.923A>G) c.7341A>G (p.Gly2447=) c.606A>G (p.Gly202=) n.862A>G c.7521A>G (p.Gly2507=) c.7455A>G (p.Gly2485=) c.7518A>G (p.Gly2506=) c.7515A>G (p.Gly2505=) c.7461A>G (p.Gly2487=) c.7431A>G (p.Gly2477=) c.7386A>G (p.Gly2462=) c.6981A>G (p.Gly2327=) c.6339A>G (p.Gly2113=) c.3849A>G (p.Gly1283=) | |
10 | g.71799593A>T | CA470062209 | CDH23 | c.7326A>T (p.Gly2442=) c.1259A>T (n.1259A>T) c.923A>T (n.923A>T) c.7341A>T (p.Gly2447=) c.606A>T (p.Gly202=) n.862A>T c.7521A>T (p.Gly2507=) c.7455A>T (p.Gly2485=) c.7518A>T (p.Gly2506=) c.7515A>T (p.Gly2505=) c.7461A>T (p.Gly2487=) c.7431A>T (p.Gly2477=) c.7386A>T (p.Gly2462=) c.6981A>T (p.Gly2327=) c.6339A>T (p.Gly2113=) c.3849A>T (p.Gly1283=) | |
10 | g.71799594G>A | CA377159610 | CDH23 | c.7327G>A (p.Asp2443Asn) c.1260G>A (n.1260G>A) c.924G>A (n.924G>A) c.7342G>A (p.Asp2448Asn) c.607G>A (p.Asp203Asn) n.863G>A c.7522G>A (p.Asp2508Asn) c.7456G>A (p.Asp2486Asn) c.7519G>A (p.Asp2507Asn) c.7516G>A (p.Asp2506Asn) c.7462G>A (p.Asp2488Asn) c.7432G>A (p.Asp2478Asn) c.7387G>A (p.Asp2463Asn) c.6982G>A (p.Asp2328Asn) c.6340G>A (p.Asp2114Asn) c.3850G>A (p.Asp1284Asn) | gnomAD v4 |
10 | g.71799594G>C | CA377159605 | CDH23 | c.7327G>C (p.Asp2443His) c.1260G>C (n.1260G>C) c.924G>C (n.924G>C) c.7342G>C (p.Asp2448His) c.607G>C (p.Asp203His) n.863G>C c.7522G>C (p.Asp2508His) c.7456G>C (p.Asp2486His) c.7519G>C (p.Asp2507His) c.7516G>C (p.Asp2506His) c.7462G>C (p.Asp2488His) c.7432G>C (p.Asp2478His) c.7387G>C (p.Asp2463His) c.6982G>C (p.Asp2328His) c.6340G>C (p.Asp2114His) c.3850G>C (p.Asp1284His) | |
10 | g.71799594G>T | CA377159607 | CDH23 | c.7327G>T (p.Asp2443Tyr) c.1260G>T (n.1260G>T) c.924G>T (n.924G>T) c.7342G>T (p.Asp2448Tyr) c.607G>T (p.Asp203Tyr) n.863G>T c.7522G>T (p.Asp2508Tyr) c.7456G>T (p.Asp2486Tyr) c.7519G>T (p.Asp2507Tyr) c.7516G>T (p.Asp2506Tyr) c.7462G>T (p.Asp2488Tyr) c.7432G>T (p.Asp2478Tyr) c.7387G>T (p.Asp2463Tyr) c.6982G>T (p.Asp2328Tyr) c.6340G>T (p.Asp2114Tyr) c.3850G>T (p.Asp1284Tyr) | |
10 | g.71799595A>C | CA377159612 | CDH23 | c.7328A>C (p.Asp2443Ala) c.1261A>C (n.1261A>C) c.925A>C (n.925A>C) c.7343A>C (p.Asp2448Ala) c.608A>C (p.Asp203Ala) n.864A>C c.7523A>C (p.Asp2508Ala) c.7457A>C (p.Asp2486Ala) c.7520A>C (p.Asp2507Ala) c.7517A>C (p.Asp2506Ala) c.7463A>C (p.Asp2488Ala) c.7433A>C (p.Asp2478Ala) c.7388A>C (p.Asp2463Ala) c.6983A>C (p.Asp2328Ala) c.6341A>C (p.Asp2114Ala) c.3851A>C (p.Asp1284Ala) | |
10 | g.71799595A>G | CA377159613 | CDH23 | c.7328A>G (p.Asp2443Gly) c.1261A>G (n.1261A>G) c.925A>G (n.925A>G) c.7343A>G (p.Asp2448Gly) c.608A>G (p.Asp203Gly) n.864A>G c.7523A>G (p.Asp2508Gly) c.7457A>G (p.Asp2486Gly) c.7520A>G (p.Asp2507Gly) c.7517A>G (p.Asp2506Gly) c.7463A>G (p.Asp2488Gly) c.7433A>G (p.Asp2478Gly) c.7388A>G (p.Asp2463Gly) c.6983A>G (p.Asp2328Gly) c.6341A>G (p.Asp2114Gly) c.3851A>G (p.Asp1284Gly) | |
10 | g.71799595A>T | CA377159615 | CDH23 | c.7328A>T (p.Asp2443Val) c.1261A>T (n.1261A>T) c.925A>T (n.925A>T) c.7343A>T (p.Asp2448Val) c.608A>T (p.Asp203Val) n.864A>T c.7523A>T (p.Asp2508Val) c.7457A>T (p.Asp2486Val) c.7520A>T (p.Asp2507Val) c.7517A>T (p.Asp2506Val) c.7463A>T (p.Asp2488Val) c.7433A>T (p.Asp2478Val) c.7388A>T (p.Asp2463Val) c.6983A>T (p.Asp2328Val) c.6341A>T (p.Asp2114Val) c.3851A>T (p.Asp1284Val) | |
10 | g.71799596T>A | CA377159616 | CDH23 | c.7329T>A (p.Asp2443Glu) c.1262T>A (n.1262T>A) c.926T>A (n.926T>A) c.7344T>A (p.Asp2448Glu) c.609T>A (p.Asp203Glu) n.865T>A c.7524T>A (p.Asp2508Glu) c.7458T>A (p.Asp2486Glu) c.7521T>A (p.Asp2507Glu) c.7518T>A (p.Asp2506Glu) c.7464T>A (p.Asp2488Glu) c.7434T>A (p.Asp2478Glu) c.7389T>A (p.Asp2463Glu) c.6984T>A (p.Asp2328Glu) c.6342T>A (p.Asp2114Glu) c.3852T>A (p.Asp1284Glu) | |
10 | g.71799596T>C | CA470062211 | CDH23 | c.7329T>C (p.Asp2443=) c.1262T>C (n.1262T>C) c.926T>C (n.926T>C) c.7344T>C (p.Asp2448=) c.609T>C (p.Asp203=) n.865T>C c.7524T>C (p.Asp2508=) c.7458T>C (p.Asp2486=) c.7521T>C (p.Asp2507=) c.7518T>C (p.Asp2506=) c.7464T>C (p.Asp2488=) c.7434T>C (p.Asp2478=) c.7389T>C (p.Asp2463=) c.6984T>C (p.Asp2328=) c.6342T>C (p.Asp2114=) c.3852T>C (p.Asp1284=) | |
10 | g.71799596T>G | CA377159618 | CDH23 | c.7329T>G (p.Asp2443Glu) c.1262T>G (n.1262T>G) c.926T>G (n.926T>G) c.7344T>G (p.Asp2448Glu) c.609T>G (p.Asp203Glu) n.865T>G c.7524T>G (p.Asp2508Glu) c.7458T>G (p.Asp2486Glu) c.7521T>G (p.Asp2507Glu) c.7518T>G (p.Asp2506Glu) c.7464T>G (p.Asp2488Glu) c.7434T>G (p.Asp2478Glu) c.7389T>G (p.Asp2463Glu) c.6984T>G (p.Asp2328Glu) c.6342T>G (p.Asp2114Glu) c.3852T>G (p.Asp1284Glu) | |
10 | g.71799597G>A | CA377159621 | CDH23 | c.7330G>A (p.Gly2444Arg) c.1263G>A (n.1263G>A) c.927G>A (n.927G>A) c.7345G>A (p.Gly2449Arg) c.610G>A (p.Gly204Arg) n.866G>A c.7525G>A (p.Gly2509Arg) c.7459G>A (p.Gly2487Arg) c.7522G>A (p.Gly2508Arg) c.7519G>A (p.Gly2507Arg) c.7465G>A (p.Gly2489Arg) c.7435G>A (p.Gly2479Arg) c.7390G>A (p.Gly2464Arg) c.6985G>A (p.Gly2329Arg) c.6343G>A (p.Gly2115Arg) c.3853G>A (p.Gly1285Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71799597G>C | CA377159628 | CDH23 | c.7330G>C (p.Gly2444Arg) c.1263G>C (n.1263G>C) c.927G>C (n.927G>C) c.7345G>C (p.Gly2449Arg) c.610G>C (p.Gly204Arg) n.866G>C c.7525G>C (p.Gly2509Arg) c.7459G>C (p.Gly2487Arg) c.7522G>C (p.Gly2508Arg) c.7519G>C (p.Gly2507Arg) c.7465G>C (p.Gly2489Arg) c.7435G>C (p.Gly2479Arg) c.7390G>C (p.Gly2464Arg) c.6985G>C (p.Gly2329Arg) c.6343G>C (p.Gly2115Arg) c.3853G>C (p.Gly1285Arg) | |
10 | g.71799597G= | CA1918878938 | CDH23 | c.7330G= (p.Gly2444=) c.1263G= (n.1263G=) c.927G= (n.927G=) c.7345G= (p.Gly2449=) c.610G= (p.Gly204=) n.866G= c.7525G= (p.Gly2509=) c.7459G= (p.Gly2487=) c.7522G= (p.Gly2508=) c.7519G= (p.Gly2507=) c.7465G= (p.Gly2489=) c.7435G= (p.Gly2479=) c.7390G= (p.Gly2464=) c.6985G= (p.Gly2329=) c.6343G= (p.Gly2115=) c.3853G= (p.Gly1285=) | |
10 | g.71799597G>T | CA377159631 | CDH23 | c.7330G>T (p.Gly2444Ter) c.1263G>T (n.1263G>T) c.927G>T (n.927G>T) c.7345G>T (p.Gly2449Ter) c.610G>T (p.Gly204Ter) n.866G>T c.7525G>T (p.Gly2509Ter) c.7459G>T (p.Gly2487Ter) c.7522G>T (p.Gly2508Ter) c.7519G>T (p.Gly2507Ter) c.7465G>T (p.Gly2489Ter) c.7435G>T (p.Gly2479Ter) c.7390G>T (p.Gly2464Ter) c.6985G>T (p.Gly2329Ter) c.6343G>T (p.Gly2115Ter) c.3853G>T (p.Gly1285Ter) | |
10 | g.71799598G>A | CA377159635 | CDH23 | c.7331G>A (p.Gly2444Glu) c.1264G>A (n.1264G>A) c.928G>A (n.928G>A) c.7346G>A (p.Gly2449Glu) c.611G>A (p.Gly204Glu) n.867G>A c.7526G>A (p.Gly2509Glu) c.7460G>A (p.Gly2487Glu) c.7523G>A (p.Gly2508Glu) c.7520G>A (p.Gly2507Glu) c.7466G>A (p.Gly2489Glu) c.7436G>A (p.Gly2479Glu) c.7391G>A (p.Gly2464Glu) c.6986G>A (p.Gly2329Glu) c.6344G>A (p.Gly2115Glu) c.3854G>A (p.Gly1285Glu) | |
10 | g.71799598G>C | CA377159637 | CDH23 | c.7331G>C (p.Gly2444Ala) c.1264G>C (n.1264G>C) c.928G>C (n.928G>C) c.7346G>C (p.Gly2449Ala) c.611G>C (p.Gly204Ala) n.867G>C c.7526G>C (p.Gly2509Ala) c.7460G>C (p.Gly2487Ala) c.7523G>C (p.Gly2508Ala) c.7520G>C (p.Gly2507Ala) c.7466G>C (p.Gly2489Ala) c.7436G>C (p.Gly2479Ala) c.7391G>C (p.Gly2464Ala) c.6986G>C (p.Gly2329Ala) c.6344G>C (p.Gly2115Ala) c.3854G>C (p.Gly1285Ala) | |
10 | g.71799598G>T | CA377159640 | CDH23 | c.7331G>T (p.Gly2444Val) c.1264G>T (n.1264G>T) c.928G>T (n.928G>T) c.7346G>T (p.Gly2449Val) c.611G>T (p.Gly204Val) n.867G>T c.7526G>T (p.Gly2509Val) c.7460G>T (p.Gly2487Val) c.7523G>T (p.Gly2508Val) c.7520G>T (p.Gly2507Val) c.7466G>T (p.Gly2489Val) c.7436G>T (p.Gly2479Val) c.7391G>T (p.Gly2464Val) c.6986G>T (p.Gly2329Val) c.6344G>T (p.Gly2115Val) c.3854G>T (p.Gly1285Val) | |
10 | g.71799599A>C | CA470062212 | CDH23 | c.7332A>C (p.Gly2444=) c.1265A>C (n.1265A>C) c.929A>C (n.929A>C) c.7347A>C (p.Gly2449=) c.612A>C (p.Gly204=) n.868A>C c.7527A>C (p.Gly2509=) c.7461A>C (p.Gly2487=) c.7524A>C (p.Gly2508=) c.7521A>C (p.Gly2507=) c.7467A>C (p.Gly2489=) c.7437A>C (p.Gly2479=) c.7392A>C (p.Gly2464=) c.6987A>C (p.Gly2329=) c.6345A>C (p.Gly2115=) c.3855A>C (p.Gly1285=) | |
10 | g.71799599A>G | CA470062213 | CDH23 | c.7332A>G (p.Gly2444=) c.1265A>G (n.1265A>G) c.929A>G (n.929A>G) c.7347A>G (p.Gly2449=) c.612A>G (p.Gly204=) n.868A>G c.7527A>G (p.Gly2509=) c.7461A>G (p.Gly2487=) c.7524A>G (p.Gly2508=) c.7521A>G (p.Gly2507=) c.7467A>G (p.Gly2489=) c.7437A>G (p.Gly2479=) c.7392A>G (p.Gly2464=) c.6987A>G (p.Gly2329=) c.6345A>G (p.Gly2115=) c.3855A>G (p.Gly1285=) | |
10 | g.71799599A>T | CA470062214 | CDH23 | c.7332A>T (p.Gly2444=) c.1265A>T (n.1265A>T) c.929A>T (n.929A>T) c.7347A>T (p.Gly2449=) c.612A>T (p.Gly204=) n.868A>T c.7527A>T (p.Gly2509=) c.7461A>T (p.Gly2487=) c.7524A>T (p.Gly2508=) c.7521A>T (p.Gly2507=) c.7467A>T (p.Gly2489=) c.7437A>T (p.Gly2479=) c.7392A>T (p.Gly2464=) c.6987A>T (p.Gly2329=) c.6345A>T (p.Gly2115=) c.3855A>T (p.Gly1285=) | |
10 | g.71799600G>A | CA377159649 | CDH23 | c.7333G>A (p.Glu2445Lys) c.1266G>A (n.1266G>A) c.930G>A (n.930G>A) c.7348G>A (p.Glu2450Lys) c.613G>A (p.Glu205Lys) n.869G>A c.7528G>A (p.Glu2510Lys) c.7462G>A (p.Glu2488Lys) c.7525G>A (p.Glu2509Lys) c.7522G>A (p.Glu2508Lys) c.7468G>A (p.Glu2490Lys) c.7438G>A (p.Glu2480Lys) c.7393G>A (p.Glu2465Lys) c.6988G>A (p.Glu2330Lys) c.6346G>A (p.Glu2116Lys) c.3856G>A (p.Glu1286Lys) | |
10 | g.71799600G>C | CA377159647 | CDH23 | c.7333G>C (p.Glu2445Gln) c.1266G>C (n.1266G>C) c.930G>C (n.930G>C) c.7348G>C (p.Glu2450Gln) c.613G>C (p.Glu205Gln) n.869G>C c.7528G>C (p.Glu2510Gln) c.7462G>C (p.Glu2488Gln) c.7525G>C (p.Glu2509Gln) c.7522G>C (p.Glu2508Gln) c.7468G>C (p.Glu2490Gln) c.7438G>C (p.Glu2480Gln) c.7393G>C (p.Glu2465Gln) c.6988G>C (p.Glu2330Gln) c.6346G>C (p.Glu2116Gln) c.3856G>C (p.Glu1286Gln) | |
10 | g.71799600G>T | CA377159644 | CDH23 | c.7333G>T (p.Glu2445Ter) c.1266G>T (n.1266G>T) c.930G>T (n.930G>T) c.7348G>T (p.Glu2450Ter) c.613G>T (p.Glu205Ter) n.869G>T c.7528G>T (p.Glu2510Ter) c.7462G>T (p.Glu2488Ter) c.7525G>T (p.Glu2509Ter) c.7522G>T (p.Glu2508Ter) c.7468G>T (p.Glu2490Ter) c.7438G>T (p.Glu2480Ter) c.7393G>T (p.Glu2465Ter) c.6988G>T (p.Glu2330Ter) c.6346G>T (p.Glu2116Ter) c.3856G>T (p.Glu1286Ter) | gnomAD v4 |
10 | g.71799601A= | CA1918878939 | CDH23 | c.7334A= (p.Glu2445=) c.1267A= (n.1267A=) c.931A= (n.931A=) c.7349A= (p.Glu2450=) c.614A= (p.Glu205=) n.870A= c.7529A= (p.Glu2510=) c.7463A= (p.Glu2488=) c.7526A= (p.Glu2509=) c.7523A= (p.Glu2508=) c.7469A= (p.Glu2490=) c.7439A= (p.Glu2480=) c.7394A= (p.Glu2465=) c.6989A= (p.Glu2330=) c.6347A= (p.Glu2116=) c.3857A= (p.Glu1286=) | |
10 | g.71799601A>C | CA377159652 | CDH23 | c.7334A>C (p.Glu2445Ala) c.1267A>C (n.1267A>C) c.931A>C (n.931A>C) c.7349A>C (p.Glu2450Ala) c.614A>C (p.Glu205Ala) n.870A>C c.7529A>C (p.Glu2510Ala) c.7463A>C (p.Glu2488Ala) c.7526A>C (p.Glu2509Ala) c.7523A>C (p.Glu2508Ala) c.7469A>C (p.Glu2490Ala) c.7439A>C (p.Glu2480Ala) c.7394A>C (p.Glu2465Ala) c.6989A>C (p.Glu2330Ala) c.6347A>C (p.Glu2116Ala) c.3857A>C (p.Glu1286Ala) | |
10 | g.71799601A>G | CA377159653 | CDH23 | c.7334A>G (p.Glu2445Gly) c.1267A>G (n.1267A>G) c.931A>G (n.931A>G) c.7349A>G (p.Glu2450Gly) c.614A>G (p.Glu205Gly) n.870A>G c.7529A>G (p.Glu2510Gly) c.7463A>G (p.Glu2488Gly) c.7526A>G (p.Glu2509Gly) c.7523A>G (p.Glu2508Gly) c.7469A>G (p.Glu2490Gly) c.7439A>G (p.Glu2480Gly) c.7394A>G (p.Glu2465Gly) c.6989A>G (p.Glu2330Gly) c.6347A>G (p.Glu2116Gly) c.3857A>G (p.Glu1286Gly) | dbSNP |
10 | g.71799601A>T | CA377159654 | CDH23 | c.7334A>T (p.Glu2445Val) c.1267A>T (n.1267A>T) c.931A>T (n.931A>T) c.7349A>T (p.Glu2450Val) c.614A>T (p.Glu205Val) n.870A>T c.7529A>T (p.Glu2510Val) c.7463A>T (p.Glu2488Val) c.7526A>T (p.Glu2509Val) c.7523A>T (p.Glu2508Val) c.7469A>T (p.Glu2490Val) c.7439A>T (p.Glu2480Val) c.7394A>T (p.Glu2465Val) c.6989A>T (p.Glu2330Val) c.6347A>T (p.Glu2116Val) c.3857A>T (p.Glu1286Val) | |
10 | g.71799602G>A | CA470062215 | CDH23 | c.7335G>A (p.Glu2445=) c.1268G>A (n.1268G>A) c.932G>A (n.932G>A) c.7350G>A (p.Glu2450=) c.615G>A (p.Glu205=) n.871G>A c.7530G>A (p.Glu2510=) c.7464G>A (p.Glu2488=) c.7527G>A (p.Glu2509=) c.7524G>A (p.Glu2508=) c.7470G>A (p.Glu2490=) c.7440G>A (p.Glu2480=) c.7395G>A (p.Glu2465=) c.6990G>A (p.Glu2330=) c.6348G>A (p.Glu2116=) c.3858G>A (p.Glu1286=) | |
10 | g.71799602G>C | CA377159657 | CDH23 | c.7335G>C (p.Glu2445Asp) c.1268G>C (n.1268G>C) c.932G>C (n.932G>C) c.7350G>C (p.Glu2450Asp) c.615G>C (p.Glu205Asp) n.871G>C c.7530G>C (p.Glu2510Asp) c.7464G>C (p.Glu2488Asp) c.7527G>C (p.Glu2509Asp) c.7524G>C (p.Glu2508Asp) c.7470G>C (p.Glu2490Asp) c.7440G>C (p.Glu2480Asp) c.7395G>C (p.Glu2465Asp) c.6990G>C (p.Glu2330Asp) c.6348G>C (p.Glu2116Asp) c.3858G>C (p.Glu1286Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71799602G= | CA1918878940 | CDH23 | c.7335G= (p.Glu2445=) c.1268G= (n.1268G=) c.932G= (n.932G=) c.7350G= (p.Glu2450=) c.615G= (p.Glu205=) n.871G= c.7530G= (p.Glu2510=) c.7464G= (p.Glu2488=) c.7527G= (p.Glu2509=) c.7524G= (p.Glu2508=) c.7470G= (p.Glu2490=) c.7440G= (p.Glu2480=) c.7395G= (p.Glu2465=) c.6990G= (p.Glu2330=) c.6348G= (p.Glu2116=) c.3858G= (p.Glu1286=) | |
10 | g.71799602G>T | CA377159658 | CDH23 | c.7335G>T (p.Glu2445Asp) c.1268G>T (n.1268G>T) c.932G>T (n.932G>T) c.7350G>T (p.Glu2450Asp) c.615G>T (p.Glu205Asp) n.871G>T c.7530G>T (p.Glu2510Asp) c.7464G>T (p.Glu2488Asp) c.7527G>T (p.Glu2509Asp) c.7524G>T (p.Glu2508Asp) c.7470G>T (p.Glu2490Asp) c.7440G>T (p.Glu2480Asp) c.7395G>T (p.Glu2465Asp) c.6990G>T (p.Glu2330Asp) c.6348G>T (p.Glu2116Asp) c.3858G>T (p.Glu1286Asp) | |
10 | g.71799603A>C | CA377159661 | CDH23 | c.7336A>C (p.Ser2446Arg) c.1269A>C (n.1269A>C) c.933A>C (n.933A>C) c.7351A>C (p.Ser2451Arg) c.616A>C (p.Ser206Arg) n.872A>C c.7531A>C (p.Ser2511Arg) c.7465A>C (p.Ser2489Arg) c.7528A>C (p.Ser2510Arg) c.7525A>C (p.Ser2509Arg) c.7471A>C (p.Ser2491Arg) c.7441A>C (p.Ser2481Arg) c.7396A>C (p.Ser2466Arg) c.6991A>C (p.Ser2331Arg) c.6349A>C (p.Ser2117Arg) c.3859A>C (p.Ser1287Arg) | |
10 | g.71799603A>G | CA377159663 | CDH23 | c.7336A>G (p.Ser2446Gly) c.1269A>G (n.1269A>G) c.933A>G (n.933A>G) c.7351A>G (p.Ser2451Gly) c.616A>G (p.Ser206Gly) n.872A>G c.7531A>G (p.Ser2511Gly) c.7465A>G (p.Ser2489Gly) c.7528A>G (p.Ser2510Gly) c.7525A>G (p.Ser2509Gly) c.7471A>G (p.Ser2491Gly) c.7441A>G (p.Ser2481Gly) c.7396A>G (p.Ser2466Gly) c.6991A>G (p.Ser2331Gly) c.6349A>G (p.Ser2117Gly) c.3859A>G (p.Ser1287Gly) | |
10 | g.71799603A>T | CA377159668 | CDH23 | c.7336A>T (p.Ser2446Cys) c.1269A>T (n.1269A>T) c.933A>T (n.933A>T) c.7351A>T (p.Ser2451Cys) c.616A>T (p.Ser206Cys) n.872A>T c.7531A>T (p.Ser2511Cys) c.7465A>T (p.Ser2489Cys) c.7528A>T (p.Ser2510Cys) c.7525A>T (p.Ser2509Cys) c.7471A>T (p.Ser2491Cys) c.7441A>T (p.Ser2481Cys) c.7396A>T (p.Ser2466Cys) c.6991A>T (p.Ser2331Cys) c.6349A>T (p.Ser2117Cys) c.3859A>T (p.Ser1287Cys) | |
10 | g.71799604G>A | CA377159670 | CDH23 | c.7337G>A (p.Ser2446Asn) c.1270G>A (n.1270G>A) c.934G>A (n.934G>A) c.7352G>A (p.Ser2451Asn) c.617G>A (p.Ser206Asn) n.873G>A c.7532G>A (p.Ser2511Asn) c.7466G>A (p.Ser2489Asn) c.7529G>A (p.Ser2510Asn) c.7526G>A (p.Ser2509Asn) c.7472G>A (p.Ser2491Asn) c.7442G>A (p.Ser2481Asn) c.7397G>A (p.Ser2466Asn) c.6992G>A (p.Ser2331Asn) c.6350G>A (p.Ser2117Asn) c.3860G>A (p.Ser1287Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71799604G>C | CA377159671 | CDH23 | c.7337G>C (p.Ser2446Thr) c.1270G>C (n.1270G>C) c.934G>C (n.934G>C) c.7352G>C (p.Ser2451Thr) c.617G>C (p.Ser206Thr) n.873G>C c.7532G>C (p.Ser2511Thr) c.7466G>C (p.Ser2489Thr) c.7529G>C (p.Ser2510Thr) c.7526G>C (p.Ser2509Thr) c.7472G>C (p.Ser2491Thr) c.7442G>C (p.Ser2481Thr) c.7397G>C (p.Ser2466Thr) c.6992G>C (p.Ser2331Thr) c.6350G>C (p.Ser2117Thr) c.3860G>C (p.Ser1287Thr) | |
10 | g.71799604G= | CA1918878941 | CDH23 | c.7337G= (p.Ser2446=) c.1270G= (n.1270G=) c.934G= (n.934G=) c.7352G= (p.Ser2451=) c.617G= (p.Ser206=) n.873G= c.7532G= (p.Ser2511=) c.7466G= (p.Ser2489=) c.7529G= (p.Ser2510=) c.7526G= (p.Ser2509=) c.7472G= (p.Ser2491=) c.7442G= (p.Ser2481=) c.7397G= (p.Ser2466=) c.6992G= (p.Ser2331=) c.6350G= (p.Ser2117=) c.3860G= (p.Ser1287=) | |
10 | g.71799604G>T | CA377159672 | CDH23 | c.7337G>T (p.Ser2446Ile) c.1270G>T (n.1270G>T) c.934G>T (n.934G>T) c.7352G>T (p.Ser2451Ile) c.617G>T (p.Ser206Ile) n.873G>T c.7532G>T (p.Ser2511Ile) c.7466G>T (p.Ser2489Ile) c.7529G>T (p.Ser2510Ile) c.7526G>T (p.Ser2509Ile) c.7472G>T (p.Ser2491Ile) c.7442G>T (p.Ser2481Ile) c.7397G>T (p.Ser2466Ile) c.6992G>T (p.Ser2331Ile) c.6350G>T (p.Ser2117Ile) c.3860G>T (p.Ser1287Ile) | |
10 | g.71799605C>A | CA377159673 | CDH23 | c.7338C>A (p.Ser2446Arg) c.1271C>A (n.1271C>A) c.935C>A (n.935C>A) c.7353C>A (p.Ser2451Arg) c.618C>A (p.Ser206Arg) n.874C>A c.7533C>A (p.Ser2511Arg) c.7467C>A (p.Ser2489Arg) c.7530C>A (p.Ser2510Arg) c.7527C>A (p.Ser2509Arg) c.7473C>A (p.Ser2491Arg) c.7443C>A (p.Ser2481Arg) c.7398C>A (p.Ser2466Arg) c.6993C>A (p.Ser2331Arg) c.6351C>A (p.Ser2117Arg) c.3861C>A (p.Ser1287Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71799605C= | CA1918878942 | CDH23 | c.7338C= (p.Ser2446=) c.1271C= (n.1271C=) c.935C= (n.935C=) c.7353C= (p.Ser2451=) c.618C= (p.Ser206=) n.874C= c.7533C= (p.Ser2511=) c.7467C= (p.Ser2489=) c.7530C= (p.Ser2510=) c.7527C= (p.Ser2509=) c.7473C= (p.Ser2491=) c.7443C= (p.Ser2481=) c.7398C= (p.Ser2466=) c.6993C= (p.Ser2331=) c.6351C= (p.Ser2117=) c.3861C= (p.Ser1287=) | |
10 | g.71799605C>G | CA377159674 | CDH23 | c.7338C>G (p.Ser2446Arg) c.1271C>G (n.1271C>G) c.935C>G (n.935C>G) c.7353C>G (p.Ser2451Arg) c.618C>G (p.Ser206Arg) n.874C>G c.7533C>G (p.Ser2511Arg) c.7467C>G (p.Ser2489Arg) c.7530C>G (p.Ser2510Arg) c.7527C>G (p.Ser2509Arg) c.7473C>G (p.Ser2491Arg) c.7443C>G (p.Ser2481Arg) c.7398C>G (p.Ser2466Arg) c.6993C>G (p.Ser2331Arg) c.6351C>G (p.Ser2117Arg) c.3861C>G (p.Ser1287Arg) | |
10 | g.71799605C>T | CA470062216 | CDH23 | c.7338C>T (p.Ser2446=) c.1271C>T (n.1271C>T) c.935C>T (n.935C>T) c.7353C>T (p.Ser2451=) c.618C>T (p.Ser206=) n.874C>T c.7533C>T (p.Ser2511=) c.7467C>T (p.Ser2489=) c.7530C>T (p.Ser2510=) c.7527C>T (p.Ser2509=) c.7473C>T (p.Ser2491=) c.7443C>T (p.Ser2481=) c.7398C>T (p.Ser2466=) c.6993C>T (p.Ser2331=) c.6351C>T (p.Ser2117=) c.3861C>T (p.Ser1287=) | |
10 | g.71799606A>C | CA377159675 | CDH23 | c.7339A>C (p.Lys2447Gln) c.1272A>C (n.1272A>C) c.936A>C (n.936A>C) c.7354A>C (p.Lys2452Gln) c.619A>C (p.Lys207Gln) n.875A>C c.7534A>C (p.Lys2512Gln) c.7468A>C (p.Lys2490Gln) c.7531A>C (p.Lys2511Gln) c.7528A>C (p.Lys2510Gln) c.7474A>C (p.Lys2492Gln) c.7444A>C (p.Lys2482Gln) c.7399A>C (p.Lys2467Gln) c.6994A>C (p.Lys2332Gln) c.6352A>C (p.Lys2118Gln) c.3862A>C (p.Lys1288Gln) | |
10 | g.71799606A>G | CA377159677 | CDH23 | c.7339A>G (p.Lys2447Glu) c.1272A>G (n.1272A>G) c.936A>G (n.936A>G) c.7354A>G (p.Lys2452Glu) c.619A>G (p.Lys207Glu) n.875A>G c.7534A>G (p.Lys2512Glu) c.7468A>G (p.Lys2490Glu) c.7531A>G (p.Lys2511Glu) c.7528A>G (p.Lys2510Glu) c.7474A>G (p.Lys2492Glu) c.7444A>G (p.Lys2482Glu) c.7399A>G (p.Lys2467Glu) c.6994A>G (p.Lys2332Glu) c.6352A>G (p.Lys2118Glu) c.3862A>G (p.Lys1288Glu) | |
10 | g.71799606A>T | CA377159676 | CDH23 | c.7339A>T (p.Lys2447Ter) c.1272A>T (n.1272A>T) c.936A>T (n.936A>T) c.7354A>T (p.Lys2452Ter) c.619A>T (p.Lys207Ter) n.875A>T c.7534A>T (p.Lys2512Ter) c.7468A>T (p.Lys2490Ter) c.7531A>T (p.Lys2511Ter) c.7528A>T (p.Lys2510Ter) c.7474A>T (p.Lys2492Ter) c.7444A>T (p.Lys2482Ter) c.7399A>T (p.Lys2467Ter) c.6994A>T (p.Lys2332Ter) c.6352A>T (p.Lys2118Ter) c.3862A>T (p.Lys1288Ter) | |
10 | g.71799607A>C | CA377159678 | CDH23 | c.7340A>C (p.Lys2447Thr) c.1273A>C (n.1273A>C) c.937A>C (n.937A>C) c.7355A>C (p.Lys2452Thr) c.620A>C (p.Lys207Thr) n.876A>C c.7535A>C (p.Lys2512Thr) c.7469A>C (p.Lys2490Thr) c.7532A>C (p.Lys2511Thr) c.7529A>C (p.Lys2510Thr) c.7475A>C (p.Lys2492Thr) c.7445A>C (p.Lys2482Thr) c.7400A>C (p.Lys2467Thr) c.6995A>C (p.Lys2332Thr) c.6353A>C (p.Lys2118Thr) c.3863A>C (p.Lys1288Thr) | |
10 | g.71799607A>G | CA377159679 | CDH23 | c.7340A>G (p.Lys2447Arg) c.1273A>G (n.1273A>G) c.937A>G (n.937A>G) c.7355A>G (p.Lys2452Arg) c.620A>G (p.Lys207Arg) n.876A>G c.7535A>G (p.Lys2512Arg) c.7469A>G (p.Lys2490Arg) c.7532A>G (p.Lys2511Arg) c.7529A>G (p.Lys2510Arg) c.7475A>G (p.Lys2492Arg) c.7445A>G (p.Lys2482Arg) c.7400A>G (p.Lys2467Arg) c.6995A>G (p.Lys2332Arg) c.6353A>G (p.Lys2118Arg) c.3863A>G (p.Lys1288Arg) | gnomAD v4 COSMIC |
10 | g.71799607A>T | CA377159680 | CDH23 | c.7340A>T (p.Lys2447Met) c.1273A>T (n.1273A>T) c.937A>T (n.937A>T) c.7355A>T (p.Lys2452Met) c.620A>T (p.Lys207Met) n.876A>T c.7535A>T (p.Lys2512Met) c.7469A>T (p.Lys2490Met) c.7532A>T (p.Lys2511Met) c.7529A>T (p.Lys2510Met) c.7475A>T (p.Lys2492Met) c.7445A>T (p.Lys2482Met) c.7400A>T (p.Lys2467Met) c.6995A>T (p.Lys2332Met) c.6353A>T (p.Lys2118Met) c.3863A>T (p.Lys1288Met) | |
10 | g.71799608G>A | CA470062217 | CDH23 | c.7341G>A (p.Lys2447=) c.1274G>A (n.1274G>A) c.938G>A (n.938G>A) c.7356G>A (p.Lys2452=) c.621G>A (p.Lys207=) n.877G>A c.7536G>A (p.Lys2512=) c.7470G>A (p.Lys2490=) c.7533G>A (p.Lys2511=) c.7530G>A (p.Lys2510=) c.7476G>A (p.Lys2492=) c.7446G>A (p.Lys2482=) c.7401G>A (p.Lys2467=) c.6996G>A (p.Lys2332=) c.6354G>A (p.Lys2118=) c.3864G>A (p.Lys1288=) | |
10 | g.71799608G>C | CA377159681 | CDH23 | c.7341G>C (p.Lys2447Asn) c.1274G>C (n.1274G>C) c.938G>C (n.938G>C) c.7356G>C (p.Lys2452Asn) c.621G>C (p.Lys207Asn) n.877G>C c.7536G>C (p.Lys2512Asn) c.7470G>C (p.Lys2490Asn) c.7533G>C (p.Lys2511Asn) c.7530G>C (p.Lys2510Asn) c.7476G>C (p.Lys2492Asn) c.7446G>C (p.Lys2482Asn) c.7401G>C (p.Lys2467Asn) c.6996G>C (p.Lys2332Asn) c.6354G>C (p.Lys2118Asn) c.3864G>C (p.Lys1288Asn) | gnomAD v4 |
10 | g.71799608G>T | CA377159682 | CDH23 | c.7341G>T (p.Lys2447Asn) c.1274G>T (n.1274G>T) c.938G>T (n.938G>T) c.7356G>T (p.Lys2452Asn) c.621G>T (p.Lys207Asn) n.877G>T c.7536G>T (p.Lys2512Asn) c.7470G>T (p.Lys2490Asn) c.7533G>T (p.Lys2511Asn) c.7530G>T (p.Lys2510Asn) c.7476G>T (p.Lys2492Asn) c.7446G>T (p.Lys2482Asn) c.7401G>T (p.Lys2467Asn) c.6996G>T (p.Lys2332Asn) c.6354G>T (p.Lys2118Asn) c.3864G>T (p.Lys1288Asn) | |
10 | g.71799609T>A | CA377159683 | CDH23 | c.7342T>A (p.Phe2448Ile) c.1275T>A (n.1275T>A) c.939T>A (n.939T>A) c.7357T>A (p.Phe2453Ile) c.622T>A (p.Phe208Ile) n.878T>A c.7537T>A (p.Phe2513Ile) c.7471T>A (p.Phe2491Ile) c.7534T>A (p.Phe2512Ile) c.7531T>A (p.Phe2511Ile) c.7477T>A (p.Phe2493Ile) c.7447T>A (p.Phe2483Ile) c.7402T>A (p.Phe2468Ile) c.6997T>A (p.Phe2333Ile) c.6355T>A (p.Phe2119Ile) c.3865T>A (p.Phe1289Ile) | COSMIC |
10 | g.71799609T>C | CA377159684 | CDH23 | c.7342T>C (p.Phe2448Leu) c.1275T>C (n.1275T>C) c.939T>C (n.939T>C) c.7357T>C (p.Phe2453Leu) c.622T>C (p.Phe208Leu) n.878T>C c.7537T>C (p.Phe2513Leu) c.7471T>C (p.Phe2491Leu) c.7534T>C (p.Phe2512Leu) c.7531T>C (p.Phe2511Leu) c.7477T>C (p.Phe2493Leu) c.7447T>C (p.Phe2483Leu) c.7402T>C (p.Phe2468Leu) c.6997T>C (p.Phe2333Leu) c.6355T>C (p.Phe2119Leu) c.3865T>C (p.Phe1289Leu) | |
10 | g.71799609T>G | CA377159685 | CDH23 | c.7342T>G (p.Phe2448Val) c.1275T>G (n.1275T>G) c.939T>G (n.939T>G) c.7357T>G (p.Phe2453Val) c.622T>G (p.Phe208Val) n.878T>G c.7537T>G (p.Phe2513Val) c.7471T>G (p.Phe2491Val) c.7534T>G (p.Phe2512Val) c.7531T>G (p.Phe2511Val) c.7477T>G (p.Phe2493Val) c.7447T>G (p.Phe2483Val) c.7402T>G (p.Phe2468Val) c.6997T>G (p.Phe2333Val) c.6355T>G (p.Phe2119Val) c.3865T>G (p.Phe1289Val) | |
10 | g.71799610T>A | CA377159686 | CDH23 | c.7343T>A (p.Phe2448Tyr) c.1276T>A (n.1276T>A) c.940T>A (n.940T>A) c.7358T>A (p.Phe2453Tyr) c.623T>A (p.Phe208Tyr) n.879T>A c.7538T>A (p.Phe2513Tyr) c.7472T>A (p.Phe2491Tyr) c.7535T>A (p.Phe2512Tyr) c.7532T>A (p.Phe2511Tyr) c.7478T>A (p.Phe2493Tyr) c.7448T>A (p.Phe2483Tyr) c.7403T>A (p.Phe2468Tyr) c.6998T>A (p.Phe2333Tyr) c.6356T>A (p.Phe2119Tyr) c.3866T>A (p.Phe1289Tyr) | |
10 | g.71799610T>C | CA377159687 | CDH23 | c.7343T>C (p.Phe2448Ser) c.1276T>C (n.1276T>C) c.940T>C (n.940T>C) c.7358T>C (p.Phe2453Ser) c.623T>C (p.Phe208Ser) n.879T>C c.7538T>C (p.Phe2513Ser) c.7472T>C (p.Phe2491Ser) c.7535T>C (p.Phe2512Ser) c.7532T>C (p.Phe2511Ser) c.7478T>C (p.Phe2493Ser) c.7448T>C (p.Phe2483Ser) c.7403T>C (p.Phe2468Ser) c.6998T>C (p.Phe2333Ser) c.6356T>C (p.Phe2119Ser) c.3866T>C (p.Phe1289Ser) | gnomAD v4 |
10 | g.71799610T>G | CA377159688 | CDH23 | c.7343T>G (p.Phe2448Cys) c.1276T>G (n.1276T>G) c.940T>G (n.940T>G) c.7358T>G (p.Phe2453Cys) c.623T>G (p.Phe208Cys) n.879T>G c.7538T>G (p.Phe2513Cys) c.7472T>G (p.Phe2491Cys) c.7535T>G (p.Phe2512Cys) c.7532T>G (p.Phe2511Cys) c.7478T>G (p.Phe2493Cys) c.7448T>G (p.Phe2483Cys) c.7403T>G (p.Phe2468Cys) c.6998T>G (p.Phe2333Cys) c.6356T>G (p.Phe2119Cys) c.3866T>G (p.Phe1289Cys) | |
10 | g.71799611T>A | CA377159690 | CDH23 | c.7344T>A (p.Phe2448Leu) c.1277T>A (n.1277T>A) c.941T>A (n.941T>A) c.7359T>A (p.Phe2453Leu) c.624T>A (p.Phe208Leu) n.880T>A c.7539T>A (p.Phe2513Leu) c.7473T>A (p.Phe2491Leu) c.7536T>A (p.Phe2512Leu) c.7533T>A (p.Phe2511Leu) c.7479T>A (p.Phe2493Leu) c.7449T>A (p.Phe2483Leu) c.7404T>A (p.Phe2468Leu) c.6999T>A (p.Phe2333Leu) c.6357T>A (p.Phe2119Leu) c.3867T>A (p.Phe1289Leu) | |
10 | g.71799611T>C | CA470062218 | CDH23 | c.7344T>C (p.Phe2448=) c.1277T>C (n.1277T>C) c.941T>C (n.941T>C) c.7359T>C (p.Phe2453=) c.624T>C (p.Phe208=) n.880T>C c.7539T>C (p.Phe2513=) c.7473T>C (p.Phe2491=) c.7536T>C (p.Phe2512=) c.7533T>C (p.Phe2511=) c.7479T>C (p.Phe2493=) c.7449T>C (p.Phe2483=) c.7404T>C (p.Phe2468=) c.6999T>C (p.Phe2333=) c.6357T>C (p.Phe2119=) c.3867T>C (p.Phe1289=) | |
10 | g.71799611T>G | CA377159689 | CDH23 | c.7344T>G (p.Phe2448Leu) c.1277T>G (n.1277T>G) c.941T>G (n.941T>G) c.7359T>G (p.Phe2453Leu) c.624T>G (p.Phe208Leu) n.880T>G c.7539T>G (p.Phe2513Leu) c.7473T>G (p.Phe2491Leu) c.7536T>G (p.Phe2512Leu) c.7533T>G (p.Phe2511Leu) c.7479T>G (p.Phe2493Leu) c.7449T>G (p.Phe2483Leu) c.7404T>G (p.Phe2468Leu) c.6999T>G (p.Phe2333Leu) c.6357T>G (p.Phe2119Leu) c.3867T>G (p.Phe1289Leu) | |
10 | g.71799612G>A | CA377159691 | CDH23 | c.7345G>A (p.Ala2449Thr) c.1278G>A (n.1278G>A) c.942G>A (n.942G>A) c.7360G>A (p.Ala2454Thr) c.625G>A (p.Ala209Thr) n.881G>A c.7540G>A (p.Ala2514Thr) c.7474G>A (p.Ala2492Thr) c.7537G>A (p.Ala2513Thr) c.7534G>A (p.Ala2512Thr) c.7480G>A (p.Ala2494Thr) c.7450G>A (p.Ala2484Thr) c.7405G>A (p.Ala2469Thr) c.7000G>A (p.Ala2334Thr) c.6358G>A (p.Ala2120Thr) c.3868G>A (p.Ala1290Thr) | ClinVar dbSNP |
10 | g.71799612G>C | CA377159693 | CDH23 | c.7345G>C (p.Ala2449Pro) c.1278G>C (n.1278G>C) c.942G>C (n.942G>C) c.7360G>C (p.Ala2454Pro) c.625G>C (p.Ala209Pro) n.881G>C c.7540G>C (p.Ala2514Pro) c.7474G>C (p.Ala2492Pro) c.7537G>C (p.Ala2513Pro) c.7534G>C (p.Ala2512Pro) c.7480G>C (p.Ala2494Pro) c.7450G>C (p.Ala2484Pro) c.7405G>C (p.Ala2469Pro) c.7000G>C (p.Ala2334Pro) c.6358G>C (p.Ala2120Pro) c.3868G>C (p.Ala1290Pro) | |
10 | g.71799612G= | CA1918878943 | CDH23 | c.7345G= (p.Ala2449=) c.1278G= (n.1278G=) c.942G= (n.942G=) c.7360G= (p.Ala2454=) c.625G= (p.Ala209=) n.881G= c.7540G= (p.Ala2514=) c.7474G= (p.Ala2492=) c.7537G= (p.Ala2513=) c.7534G= (p.Ala2512=) c.7480G= (p.Ala2494=) c.7450G= (p.Ala2484=) c.7405G= (p.Ala2469=) c.7000G= (p.Ala2334=) c.6358G= (p.Ala2120=) c.3868G= (p.Ala1290=) | |
10 | g.71799612G>T | CA377159692 | CDH23 | c.7345G>T (p.Ala2449Ser) c.1278G>T (n.1278G>T) c.942G>T (n.942G>T) c.7360G>T (p.Ala2454Ser) c.625G>T (p.Ala209Ser) n.881G>T c.7540G>T (p.Ala2514Ser) c.7474G>T (p.Ala2492Ser) c.7537G>T (p.Ala2513Ser) c.7534G>T (p.Ala2512Ser) c.7480G>T (p.Ala2494Ser) c.7450G>T (p.Ala2484Ser) c.7405G>T (p.Ala2469Ser) c.7000G>T (p.Ala2334Ser) c.6358G>T (p.Ala2120Ser) c.3868G>T (p.Ala1290Ser) | |
10 | g.71799613C>A | CA377159694 | CDH23 | c.7346C>A (p.Ala2449Asp) c.1279C>A (n.1279C>A) c.943C>A (n.943C>A) c.7361C>A (p.Ala2454Asp) c.626C>A (p.Ala209Asp) n.882C>A c.7541C>A (p.Ala2514Asp) c.7475C>A (p.Ala2492Asp) c.7538C>A (p.Ala2513Asp) c.7535C>A (p.Ala2512Asp) c.7481C>A (p.Ala2494Asp) c.7451C>A (p.Ala2484Asp) c.7406C>A (p.Ala2469Asp) c.7001C>A (p.Ala2334Asp) c.6359C>A (p.Ala2120Asp) c.3869C>A (p.Ala1290Asp) | |
10 | g.71799613C>G | CA377159695 | CDH23 | c.7346C>G (p.Ala2449Gly) c.1279C>G (n.1279C>G) c.943C>G (n.943C>G) c.7361C>G (p.Ala2454Gly) c.626C>G (p.Ala209Gly) n.882C>G c.7541C>G (p.Ala2514Gly) c.7475C>G (p.Ala2492Gly) c.7538C>G (p.Ala2513Gly) c.7535C>G (p.Ala2512Gly) c.7481C>G (p.Ala2494Gly) c.7451C>G (p.Ala2484Gly) c.7406C>G (p.Ala2469Gly) c.7001C>G (p.Ala2334Gly) c.6359C>G (p.Ala2120Gly) c.3869C>G (p.Ala1290Gly) | |
10 | g.71799613C>T | CA377159696 | CDH23 | c.7346C>T (p.Ala2449Val) c.1279C>T (n.1279C>T) c.943C>T (n.943C>T) c.7361C>T (p.Ala2454Val) c.626C>T (p.Ala209Val) n.882C>T c.7541C>T (p.Ala2514Val) c.7475C>T (p.Ala2492Val) c.7538C>T (p.Ala2513Val) c.7535C>T (p.Ala2512Val) c.7481C>T (p.Ala2494Val) c.7451C>T (p.Ala2484Val) c.7406C>T (p.Ala2469Val) c.7001C>T (p.Ala2334Val) c.6359C>T (p.Ala2120Val) c.3869C>T (p.Ala1290Val) | |
10 | g.71799614C>A | CA470062219 | CDH23 | c.7347C>A (p.Ala2449=) c.1280C>A (n.1280C>A) c.944C>A (n.944C>A) c.7362C>A (p.Ala2454=) c.627C>A (p.Ala209=) n.883C>A c.7542C>A (p.Ala2514=) c.7476C>A (p.Ala2492=) c.7539C>A (p.Ala2513=) c.7536C>A (p.Ala2512=) c.7482C>A (p.Ala2494=) c.7452C>A (p.Ala2484=) c.7407C>A (p.Ala2469=) c.7002C>A (p.Ala2334=) c.6360C>A (p.Ala2120=) c.3870C>A (p.Ala1290=) | |
10 | g.71799614C>G | CA470062221 | CDH23 | c.7347C>G (p.Ala2449=) c.1280C>G (n.1280C>G) c.944C>G (n.944C>G) c.7362C>G (p.Ala2454=) c.627C>G (p.Ala209=) n.883C>G c.7542C>G (p.Ala2514=) c.7476C>G (p.Ala2492=) c.7539C>G (p.Ala2513=) c.7536C>G (p.Ala2512=) c.7482C>G (p.Ala2494=) c.7452C>G (p.Ala2484=) c.7407C>G (p.Ala2469=) c.7002C>G (p.Ala2334=) c.6360C>G (p.Ala2120=) c.3870C>G (p.Ala1290=) | |
10 | g.71799614C>T | CA470062220 | CDH23 | c.7347C>T (p.Ala2449=) c.1280C>T (n.1280C>T) c.944C>T (n.944C>T) c.7362C>T (p.Ala2454=) c.627C>T (p.Ala209=) n.883C>T c.7542C>T (p.Ala2514=) c.7476C>T (p.Ala2492=) c.7539C>T (p.Ala2513=) c.7536C>T (p.Ala2512=) c.7482C>T (p.Ala2494=) c.7452C>T (p.Ala2484=) c.7407C>T (p.Ala2469=) c.7002C>T (p.Ala2334=) c.6360C>T (p.Ala2120=) c.3870C>T (p.Ala1290=) | gnomAD v4 |
10 | g.71799615A>C | CA377159697 | CDH23 | c.7348A>C (p.Ile2450Leu) c.1281A>C (n.1281A>C) c.945A>C (n.945A>C) c.7363A>C (p.Ile2455Leu) c.628A>C (p.Ile210Leu) n.884A>C c.7543A>C (p.Ile2515Leu) c.7477A>C (p.Ile2493Leu) c.7540A>C (p.Ile2514Leu) c.7537A>C (p.Ile2513Leu) c.7483A>C (p.Ile2495Leu) c.7453A>C (p.Ile2485Leu) c.7408A>C (p.Ile2470Leu) c.7003A>C (p.Ile2335Leu) c.6361A>C (p.Ile2121Leu) c.3871A>C (p.Ile1291Leu) | |
10 | g.71799615A>G | CA377159698 | CDH23 | c.7348A>G (p.Ile2450Val) c.1281A>G (n.1281A>G) c.945A>G (n.945A>G) c.7363A>G (p.Ile2455Val) c.628A>G (p.Ile210Val) n.884A>G c.7543A>G (p.Ile2515Val) c.7477A>G (p.Ile2493Val) c.7540A>G (p.Ile2514Val) c.7537A>G (p.Ile2513Val) c.7483A>G (p.Ile2495Val) c.7453A>G (p.Ile2485Val) c.7408A>G (p.Ile2470Val) c.7003A>G (p.Ile2335Val) c.6361A>G (p.Ile2121Val) c.3871A>G (p.Ile1291Val) | |
10 | g.71799615A>T | CA377159699 | CDH23 | c.7348A>T (p.Ile2450Phe) c.1281A>T (n.1281A>T) c.945A>T (n.945A>T) c.7363A>T (p.Ile2455Phe) c.628A>T (p.Ile210Phe) n.884A>T c.7543A>T (p.Ile2515Phe) c.7477A>T (p.Ile2493Phe) c.7540A>T (p.Ile2514Phe) c.7537A>T (p.Ile2513Phe) c.7483A>T (p.Ile2495Phe) c.7453A>T (p.Ile2485Phe) c.7408A>T (p.Ile2470Phe) c.7003A>T (p.Ile2335Phe) c.6361A>T (p.Ile2121Phe) c.3871A>T (p.Ile1291Phe) | |
10 | g.71799616T>A | CA5546307 | CDH23 | c.7349T>A (p.Ile2450Asn) c.1282T>A (n.1282T>A) c.946T>A (n.946T>A) c.7364T>A (p.Ile2455Asn) c.629T>A (p.Ile210Asn) n.885T>A c.7544T>A (p.Ile2515Asn) c.7478T>A (p.Ile2493Asn) c.7541T>A (p.Ile2514Asn) c.7538T>A (p.Ile2513Asn) c.7484T>A (p.Ile2495Asn) c.7454T>A (p.Ile2485Asn) c.7409T>A (p.Ile2470Asn) c.7004T>A (p.Ile2335Asn) c.6362T>A (p.Ile2121Asn) c.3872T>A (p.Ile1291Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71799616T>C | CA377159700 | CDH23 | c.7349T>C (p.Ile2450Thr) c.1282T>C (n.1282T>C) c.946T>C (n.946T>C) c.7364T>C (p.Ile2455Thr) c.629T>C (p.Ile210Thr) n.885T>C c.7544T>C (p.Ile2515Thr) c.7478T>C (p.Ile2493Thr) c.7541T>C (p.Ile2514Thr) c.7538T>C (p.Ile2513Thr) c.7484T>C (p.Ile2495Thr) c.7454T>C (p.Ile2485Thr) c.7409T>C (p.Ile2470Thr) c.7004T>C (p.Ile2335Thr) c.6362T>C (p.Ile2121Thr) c.3872T>C (p.Ile1291Thr) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71799616T>G | CA377159701 | CDH23 | c.7349T>G (p.Ile2450Ser) c.1282T>G (n.1282T>G) c.946T>G (n.946T>G) c.7364T>G (p.Ile2455Ser) c.629T>G (p.Ile210Ser) n.885T>G c.7544T>G (p.Ile2515Ser) c.7478T>G (p.Ile2493Ser) c.7541T>G (p.Ile2514Ser) c.7538T>G (p.Ile2513Ser) c.7484T>G (p.Ile2495Ser) c.7454T>G (p.Ile2485Ser) c.7409T>G (p.Ile2470Ser) c.7004T>G (p.Ile2335Ser) c.6362T>G (p.Ile2121Ser) c.3872T>G (p.Ile1291Ser) | |
10 | g.71799616T= | CA1918878944 | CDH23 | c.7349T= (p.Ile2450=) c.1282T= (n.1282T=) c.946T= (n.946T=) c.7364T= (p.Ile2455=) c.629T= (p.Ile210=) n.885T= c.7544T= (p.Ile2515=) c.7478T= (p.Ile2493=) c.7541T= (p.Ile2514=) c.7538T= (p.Ile2513=) c.7484T= (p.Ile2495=) c.7454T= (p.Ile2485=) c.7409T= (p.Ile2470=) c.7004T= (p.Ile2335=) c.6362T= (p.Ile2121=) c.3872T= (p.Ile1291=) | |
10 | g.71799617C>A | CA470062222 | CDH23 | c.7350C>A (p.Ile2450=) c.1283C>A (n.1283C>A) c.947C>A (n.947C>A) c.7365C>A (p.Ile2455=) c.630C>A (p.Ile210=) n.886C>A c.7545C>A (p.Ile2515=) c.7479C>A (p.Ile2493=) c.7542C>A (p.Ile2514=) c.7539C>A (p.Ile2513=) c.7485C>A (p.Ile2495=) c.7455C>A (p.Ile2485=) c.7410C>A (p.Ile2470=) c.7005C>A (p.Ile2335=) c.6363C>A (p.Ile2121=) c.3873C>A (p.Ile1291=) | |
10 | g.71799617C>G | CA377159702 | CDH23 | c.7350C>G (p.Ile2450Met) c.1283C>G (n.1283C>G) c.947C>G (n.947C>G) c.7365C>G (p.Ile2455Met) c.630C>G (p.Ile210Met) n.886C>G c.7545C>G (p.Ile2515Met) c.7479C>G (p.Ile2493Met) c.7542C>G (p.Ile2514Met) c.7539C>G (p.Ile2513Met) c.7485C>G (p.Ile2495Met) c.7455C>G (p.Ile2485Met) c.7410C>G (p.Ile2470Met) c.7005C>G (p.Ile2335Met) c.6363C>G (p.Ile2121Met) c.3873C>G (p.Ile1291Met) | |
10 | g.71799617C>T | CA470062223 | CDH23 | c.7350C>T (p.Ile2450=) c.1283C>T (n.1283C>T) c.947C>T (n.947C>T) c.7365C>T (p.Ile2455=) c.630C>T (p.Ile210=) n.886C>T c.7545C>T (p.Ile2515=) c.7479C>T (p.Ile2493=) c.7542C>T (p.Ile2514=) c.7539C>T (p.Ile2513=) c.7485C>T (p.Ile2495=) c.7455C>T (p.Ile2485=) c.7410C>T (p.Ile2470=) c.7005C>T (p.Ile2335=) c.6363C>T (p.Ile2121=) c.3873C>T (p.Ile1291=) | |
10 | g.71799618A>C | CA377159703 | CDH23 | c.7351A>C (p.Asn2451His) c.1284A>C (n.1284A>C) c.948A>C (n.948A>C) c.7366A>C (p.Asn2456His) c.631A>C (p.Asn211His) n.887A>C c.7546A>C (p.Asn2516His) c.7480A>C (p.Asn2494His) c.7543A>C (p.Asn2515His) c.7540A>C (p.Asn2514His) c.7486A>C (p.Asn2496His) c.7456A>C (p.Asn2486His) c.7411A>C (p.Asn2471His) c.7006A>C (p.Asn2336His) c.6364A>C (p.Asn2122His) c.3874A>C (p.Asn1292His) | |
10 | g.71799618A>G | CA377159704 | CDH23 | c.7351A>G (p.Asn2451Asp) c.1284A>G (n.1284A>G) c.948A>G (n.948A>G) c.7366A>G (p.Asn2456Asp) c.631A>G (p.Asn211Asp) n.887A>G c.7546A>G (p.Asn2516Asp) c.7480A>G (p.Asn2494Asp) c.7543A>G (p.Asn2515Asp) c.7540A>G (p.Asn2514Asp) c.7486A>G (p.Asn2496Asp) c.7456A>G (p.Asn2486Asp) c.7411A>G (p.Asn2471Asp) c.7006A>G (p.Asn2336Asp) c.6364A>G (p.Asn2122Asp) c.3874A>G (p.Asn1292Asp) | |
10 | g.71799618A>T | CA377159705 | CDH23 | c.7351A>T (p.Asn2451Tyr) c.1284A>T (n.1284A>T) c.948A>T (n.948A>T) c.7366A>T (p.Asn2456Tyr) c.631A>T (p.Asn211Tyr) n.887A>T c.7546A>T (p.Asn2516Tyr) c.7480A>T (p.Asn2494Tyr) c.7543A>T (p.Asn2515Tyr) c.7540A>T (p.Asn2514Tyr) c.7486A>T (p.Asn2496Tyr) c.7456A>T (p.Asn2486Tyr) c.7411A>T (p.Asn2471Tyr) c.7006A>T (p.Asn2336Tyr) c.6364A>T (p.Asn2122Tyr) c.3874A>T (p.Asn1292Tyr) | |
10 | g.71799619A= | CA1918878945 | CDH23 | c.7352A= (p.Asn2451=) c.1285A= (n.1285A=) c.949A= (n.949A=) c.7367A= (p.Asn2456=) c.632A= (p.Asn211=) n.888A= c.7547A= (p.Asn2516=) c.7481A= (p.Asn2494=) c.7544A= (p.Asn2515=) c.7541A= (p.Asn2514=) c.7487A= (p.Asn2496=) c.7457A= (p.Asn2486=) c.7412A= (p.Asn2471=) c.7007A= (p.Asn2336=) c.6365A= (p.Asn2122=) c.3875A= (p.Asn1292=) | |
10 | g.71799619A>C | CA377159708 | CDH23 | c.7352A>C (p.Asn2451Thr) c.1285A>C (n.1285A>C) c.949A>C (n.949A>C) c.7367A>C (p.Asn2456Thr) c.632A>C (p.Asn211Thr) n.888A>C c.7547A>C (p.Asn2516Thr) c.7481A>C (p.Asn2494Thr) c.7544A>C (p.Asn2515Thr) c.7541A>C (p.Asn2514Thr) c.7487A>C (p.Asn2496Thr) c.7457A>C (p.Asn2486Thr) c.7412A>C (p.Asn2471Thr) c.7007A>C (p.Asn2336Thr) c.6365A>C (p.Asn2122Thr) c.3875A>C (p.Asn1292Thr) | |
10 | g.71799619A>G | CA377159707 | CDH23 | c.7352A>G (p.Asn2451Ser) c.1285A>G (n.1285A>G) c.949A>G (n.949A>G) c.7367A>G (p.Asn2456Ser) c.632A>G (p.Asn211Ser) n.888A>G c.7547A>G (p.Asn2516Ser) c.7481A>G (p.Asn2494Ser) c.7544A>G (p.Asn2515Ser) c.7541A>G (p.Asn2514Ser) c.7487A>G (p.Asn2496Ser) c.7457A>G (p.Asn2486Ser) c.7412A>G (p.Asn2471Ser) c.7007A>G (p.Asn2336Ser) c.6365A>G (p.Asn2122Ser) c.3875A>G (p.Asn1292Ser) | dbSNP gnomAD v4 |
10 | g.71799619A>T | CA377159706 | CDH23 | c.7352A>T (p.Asn2451Ile) c.1285A>T (n.1285A>T) c.949A>T (n.949A>T) c.7367A>T (p.Asn2456Ile) c.632A>T (p.Asn211Ile) n.888A>T c.7547A>T (p.Asn2516Ile) c.7481A>T (p.Asn2494Ile) c.7544A>T (p.Asn2515Ile) c.7541A>T (p.Asn2514Ile) c.7487A>T (p.Asn2496Ile) c.7457A>T (p.Asn2486Ile) c.7412A>T (p.Asn2471Ile) c.7007A>T (p.Asn2336Ile) c.6365A>T (p.Asn2122Ile) c.3875A>T (p.Asn1292Ile) | |
10 | g.71799620C>A | CA377159709 | CDH23 | c.7353C>A (p.Asn2451Lys) c.1286C>A (n.1286C>A) c.950C>A (n.950C>A) c.7368C>A (p.Asn2456Lys) c.633C>A (p.Asn211Lys) n.889C>A c.7548C>A (p.Asn2516Lys) c.7482C>A (p.Asn2494Lys) c.7545C>A (p.Asn2515Lys) c.7542C>A (p.Asn2514Lys) c.7488C>A (p.Asn2496Lys) c.7458C>A (p.Asn2486Lys) c.7413C>A (p.Asn2471Lys) c.7008C>A (p.Asn2336Lys) c.6366C>A (p.Asn2122Lys) c.3876C>A (p.Asn1292Lys) | |
10 | g.71799620C= | CA1918878946 | CDH23 | c.7353C= (p.Asn2451=) c.1286C= (n.1286C=) c.950C= (n.950C=) c.7368C= (p.Asn2456=) c.633C= (p.Asn211=) n.889C= c.7548C= (p.Asn2516=) c.7482C= (p.Asn2494=) c.7545C= (p.Asn2515=) c.7542C= (p.Asn2514=) c.7488C= (p.Asn2496=) c.7458C= (p.Asn2486=) c.7413C= (p.Asn2471=) c.7008C= (p.Asn2336=) c.6366C= (p.Asn2122=) c.3876C= (p.Asn1292=) | |
10 | g.71799620C>G | CA377159710 | CDH23 | c.7353C>G (p.Asn2451Lys) c.1286C>G (n.1286C>G) c.950C>G (n.950C>G) c.7368C>G (p.Asn2456Lys) c.633C>G (p.Asn211Lys) n.889C>G c.7548C>G (p.Asn2516Lys) c.7482C>G (p.Asn2494Lys) c.7545C>G (p.Asn2515Lys) c.7542C>G (p.Asn2514Lys) c.7488C>G (p.Asn2496Lys) c.7458C>G (p.Asn2486Lys) c.7413C>G (p.Asn2471Lys) c.7008C>G (p.Asn2336Lys) c.6366C>G (p.Asn2122Lys) c.3876C>G (p.Asn1292Lys) | |
10 | g.71799620C>T | CA5546308 | CDH23 | c.7353C>T (p.Asn2451=) c.1286C>T (n.1286C>T) c.950C>T (n.950C>T) c.7368C>T (p.Asn2456=) c.633C>T (p.Asn211=) n.889C>T c.7548C>T (p.Asn2516=) c.7482C>T (p.Asn2494=) c.7545C>T (p.Asn2515=) c.7542C>T (p.Asn2514=) c.7488C>T (p.Asn2496=) c.7458C>T (p.Asn2486=) c.7413C>T (p.Asn2471=) c.7008C>T (p.Asn2336=) c.6366C>T (p.Asn2122=) c.3876C>T (p.Asn1292=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71799621C>A | CA377159711 | CDH23 | c.7354C>A (p.Pro2452Thr) c.1287C>A (n.1287C>A) c.951C>A (n.951C>A) c.7369C>A (p.Pro2457Thr) c.634C>A (p.Pro212Thr) n.890C>A c.7549C>A (p.Pro2517Thr) c.7483C>A (p.Pro2495Thr) c.7546C>A (p.Pro2516Thr) c.7543C>A (p.Pro2515Thr) c.7489C>A (p.Pro2497Thr) c.7459C>A (p.Pro2487Thr) c.7414C>A (p.Pro2472Thr) c.7009C>A (p.Pro2337Thr) c.6367C>A (p.Pro2123Thr) c.3877C>A (p.Pro1293Thr) | |
10 | g.71799621C>G | CA377159712 | CDH23 | c.7354C>G (p.Pro2452Ala) c.1287C>G (n.1287C>G) c.951C>G (n.951C>G) c.7369C>G (p.Pro2457Ala) c.634C>G (p.Pro212Ala) n.890C>G c.7549C>G (p.Pro2517Ala) c.7483C>G (p.Pro2495Ala) c.7546C>G (p.Pro2516Ala) c.7543C>G (p.Pro2515Ala) c.7489C>G (p.Pro2497Ala) c.7459C>G (p.Pro2487Ala) c.7414C>G (p.Pro2472Ala) c.7009C>G (p.Pro2337Ala) c.6367C>G (p.Pro2123Ala) c.3877C>G (p.Pro1293Ala) | |
10 | g.71799621C>T | CA377159713 | CDH23 | c.7354C>T (p.Pro2452Ser) c.1287C>T (n.1287C>T) c.951C>T (n.951C>T) c.7369C>T (p.Pro2457Ser) c.634C>T (p.Pro212Ser) n.890C>T c.7549C>T (p.Pro2517Ser) c.7483C>T (p.Pro2495Ser) c.7546C>T (p.Pro2516Ser) c.7543C>T (p.Pro2515Ser) c.7489C>T (p.Pro2497Ser) c.7459C>T (p.Pro2487Ser) c.7414C>T (p.Pro2472Ser) c.7009C>T (p.Pro2337Ser) c.6367C>T (p.Pro2123Ser) c.3877C>T (p.Pro1293Ser) | |
10 | g.71799622C>A | CA377159714 | CDH23 | c.7355C>A (p.Pro2452His) c.1288C>A (n.1288C>A) c.952C>A (n.952C>A) c.7370C>A (p.Pro2457His) c.635C>A (p.Pro212His) n.891C>A c.7550C>A (p.Pro2517His) c.7484C>A (p.Pro2495His) c.7547C>A (p.Pro2516His) c.7544C>A (p.Pro2515His) c.7490C>A (p.Pro2497His) c.7460C>A (p.Pro2487His) c.7415C>A (p.Pro2472His) c.7010C>A (p.Pro2337His) c.6368C>A (p.Pro2123His) c.3878C>A (p.Pro1293His) | |
10 | g.71799622C= | CA1918878947 | CDH23 | c.7355C= (p.Pro2452=) c.1288C= (n.1288C=) c.952C= (n.952C=) c.7370C= (p.Pro2457=) c.635C= (p.Pro212=) n.891C= c.7550C= (p.Pro2517=) c.7484C= (p.Pro2495=) c.7547C= (p.Pro2516=) c.7544C= (p.Pro2515=) c.7490C= (p.Pro2497=) c.7460C= (p.Pro2487=) c.7415C= (p.Pro2472=) c.7010C= (p.Pro2337=) c.6368C= (p.Pro2123=) c.3878C= (p.Pro1293=) | |
10 | g.71799622C>G | CA377159715 | CDH23 | c.7355C>G (p.Pro2452Arg) c.1288C>G (n.1288C>G) c.952C>G (n.952C>G) c.7370C>G (p.Pro2457Arg) c.635C>G (p.Pro212Arg) n.891C>G c.7550C>G (p.Pro2517Arg) c.7484C>G (p.Pro2495Arg) c.7547C>G (p.Pro2516Arg) c.7544C>G (p.Pro2515Arg) c.7490C>G (p.Pro2497Arg) c.7460C>G (p.Pro2487Arg) c.7415C>G (p.Pro2472Arg) c.7010C>G (p.Pro2337Arg) c.6368C>G (p.Pro2123Arg) c.3878C>G (p.Pro1293Arg) | |
10 | g.71799622C>T | CA377159716 | CDH23 | c.7355C>T (p.Pro2452Leu) c.1288C>T (n.1288C>T) c.952C>T (n.952C>T) c.7370C>T (p.Pro2457Leu) c.635C>T (p.Pro212Leu) n.891C>T c.7550C>T (p.Pro2517Leu) c.7484C>T (p.Pro2495Leu) c.7547C>T (p.Pro2516Leu) c.7544C>T (p.Pro2515Leu) c.7490C>T (p.Pro2497Leu) c.7460C>T (p.Pro2487Leu) c.7415C>T (p.Pro2472Leu) c.7010C>T (p.Pro2337Leu) c.6368C>T (p.Pro2123Leu) c.3878C>T (p.Pro1293Leu) | dbSNP |
10 | g.71799623C>A | CA470062224 | CDH23 | c.7356C>A (p.Pro2452=) c.1289C>A (n.1289C>A) c.953C>A (n.953C>A) c.7371C>A (p.Pro2457=) c.636C>A (p.Pro212=) n.892C>A c.7551C>A (p.Pro2517=) c.7485C>A (p.Pro2495=) c.7548C>A (p.Pro2516=) c.7545C>A (p.Pro2515=) c.7491C>A (p.Pro2497=) c.7461C>A (p.Pro2487=) c.7416C>A (p.Pro2472=) c.7011C>A (p.Pro2337=) c.6369C>A (p.Pro2123=) c.3879C>A (p.Pro1293=) | |
10 | g.71799623C= | CA1918878948 | CDH23 | c.7356C= (p.Pro2452=) c.1289C= (n.1289C=) c.953C= (n.953C=) c.7371C= (p.Pro2457=) c.636C= (p.Pro212=) n.892C= c.7551C= (p.Pro2517=) c.7485C= (p.Pro2495=) c.7548C= (p.Pro2516=) c.7545C= (p.Pro2515=) c.7491C= (p.Pro2497=) c.7461C= (p.Pro2487=) c.7416C= (p.Pro2472=) c.7011C= (p.Pro2337=) c.6369C= (p.Pro2123=) c.3879C= (p.Pro1293=) | |
10 | g.71799623C>G | CA470062225 | CDH23 | c.7356C>G (p.Pro2452=) c.1289C>G (n.1289C>G) c.953C>G (n.953C>G) c.7371C>G (p.Pro2457=) c.636C>G (p.Pro212=) n.892C>G c.7551C>G (p.Pro2517=) c.7485C>G (p.Pro2495=) c.7548C>G (p.Pro2516=) c.7545C>G (p.Pro2515=) c.7491C>G (p.Pro2497=) c.7461C>G (p.Pro2487=) c.7416C>G (p.Pro2472=) c.7011C>G (p.Pro2337=) c.6369C>G (p.Pro2123=) c.3879C>G (p.Pro1293=) | |
10 | g.71799623C>T | CA209470459 | CDH23 | c.7356C>T (p.Pro2452=) c.1289C>T (n.1289C>T) c.953C>T (n.953C>T) c.7371C>T (p.Pro2457=) c.636C>T (p.Pro212=) n.892C>T c.7551C>T (p.Pro2517=) c.7485C>T (p.Pro2495=) c.7548C>T (p.Pro2516=) c.7545C>T (p.Pro2515=) c.7491C>T (p.Pro2497=) c.7461C>T (p.Pro2487=) c.7416C>T (p.Pro2472=) c.7011C>T (p.Pro2337=) c.6369C>T (p.Pro2123=) c.3879C>T (p.Pro1293=) | dbSNP gnomAD v4 |
10 | g.71799624A>C | CA377159717 | CDH23 | c.7357A>C (p.Thr2453Pro) c.1290A>C (n.1290A>C) c.954A>C (n.954A>C) c.7372A>C (p.Thr2458Pro) c.637A>C (p.Thr213Pro) n.893A>C c.7552A>C (p.Thr2518Pro) c.7486A>C (p.Thr2496Pro) c.7549A>C (p.Thr2517Pro) c.7546A>C (p.Thr2516Pro) c.7492A>C (p.Thr2498Pro) c.7462A>C (p.Thr2488Pro) c.7417A>C (p.Thr2473Pro) c.7012A>C (p.Thr2338Pro) c.6370A>C (p.Thr2124Pro) c.3880A>C (p.Thr1294Pro) | |
10 | g.71799624A>G | CA377159718 | CDH23 | c.7357A>G (p.Thr2453Ala) c.1290A>G (n.1290A>G) c.954A>G (n.954A>G) c.7372A>G (p.Thr2458Ala) c.637A>G (p.Thr213Ala) n.893A>G c.7552A>G (p.Thr2518Ala) c.7486A>G (p.Thr2496Ala) c.7549A>G (p.Thr2517Ala) c.7546A>G (p.Thr2516Ala) c.7492A>G (p.Thr2498Ala) c.7462A>G (p.Thr2488Ala) c.7417A>G (p.Thr2473Ala) c.7012A>G (p.Thr2338Ala) c.6370A>G (p.Thr2124Ala) c.3880A>G (p.Thr1294Ala) | gnomAD v4 |
10 | g.71799624A>T | CA377159719 | CDH23 | c.7357A>T (p.Thr2453Ser) c.1290A>T (n.1290A>T) c.954A>T (n.954A>T) c.7372A>T (p.Thr2458Ser) c.637A>T (p.Thr213Ser) n.893A>T c.7552A>T (p.Thr2518Ser) c.7486A>T (p.Thr2496Ser) c.7549A>T (p.Thr2517Ser) c.7546A>T (p.Thr2516Ser) c.7492A>T (p.Thr2498Ser) c.7462A>T (p.Thr2488Ser) c.7417A>T (p.Thr2473Ser) c.7012A>T (p.Thr2338Ser) c.6370A>T (p.Thr2124Ser) c.3880A>T (p.Thr1294Ser) | |
10 | g.71799625C>A | CA377159721 | CDH23 | c.7358C>A (p.Thr2453Asn) c.1291C>A (n.1291C>A) c.955C>A (n.955C>A) c.7373C>A (p.Thr2458Asn) c.638C>A (p.Thr213Asn) n.894C>A c.7553C>A (p.Thr2518Asn) c.7487C>A (p.Thr2496Asn) c.7550C>A (p.Thr2517Asn) c.7547C>A (p.Thr2516Asn) c.7493C>A (p.Thr2498Asn) c.7463C>A (p.Thr2488Asn) c.7418C>A (p.Thr2473Asn) c.7013C>A (p.Thr2338Asn) c.6371C>A (p.Thr2124Asn) c.3881C>A (p.Thr1294Asn) | |
10 | g.71799625C>G | CA377159722 | CDH23 | c.7358C>G (p.Thr2453Ser) c.1291C>G (n.1291C>G) c.955C>G (n.955C>G) c.7373C>G (p.Thr2458Ser) c.638C>G (p.Thr213Ser) n.894C>G c.7553C>G (p.Thr2518Ser) c.7487C>G (p.Thr2496Ser) c.7550C>G (p.Thr2517Ser) c.7547C>G (p.Thr2516Ser) c.7493C>G (p.Thr2498Ser) c.7463C>G (p.Thr2488Ser) c.7418C>G (p.Thr2473Ser) c.7013C>G (p.Thr2338Ser) c.6371C>G (p.Thr2124Ser) c.3881C>G (p.Thr1294Ser) | |
10 | g.71799625C>T | CA377159720 | CDH23 | c.7358C>T (p.Thr2453Ile) c.1291C>T (n.1291C>T) c.955C>T (n.955C>T) c.7373C>T (p.Thr2458Ile) c.638C>T (p.Thr213Ile) n.894C>T c.7553C>T (p.Thr2518Ile) c.7487C>T (p.Thr2496Ile) c.7550C>T (p.Thr2517Ile) c.7547C>T (p.Thr2516Ile) c.7493C>T (p.Thr2498Ile) c.7463C>T (p.Thr2488Ile) c.7418C>T (p.Thr2473Ile) c.7013C>T (p.Thr2338Ile) c.6371C>T (p.Thr2124Ile) c.3881C>T (p.Thr1294Ile) | gnomAD v4 |
10 | g.71799625_71799626insACCCCAAACACACCCAA | CA2788480138 | CDH23 | c.7358_7359insACCCCAAACACACCCAA (p.Thr2454ProfsTer26) c.1291_1292insACCCCAAACACACCCAA (n.1291_1292insACCCCAAACACACCCAA) c.955_956insACCCCAAACACACCCAA (n.955_956insACCCCAAACACACCCAA) c.7373_7374insACCCCAAACACACCCAA (p.Thr2459ProfsTer26) c.638_639insACCCCAAACACACCCAA (p.Thr214ProfsTer26) n.894_895insACCCCAAACACACCCAA c.7553_7554insACCCCAAACACACCCAA (p.Thr2519ProfsTer26) c.7487_7488insACCCCAAACACACCCAA (p.Thr2497ProfsTer26) c.7550_7551insACCCCAAACACACCCAA (p.Thr2518ProfsTer26) c.7547_7548insACCCCAAACACACCCAA (p.Thr2517ProfsTer26) c.7493_7494insACCCCAAACACACCCAA (p.Thr2499ProfsTer26) c.7463_7464insACCCCAAACACACCCAA (p.Thr2489ProfsTer26) c.7418_7419insACCCCAAACACACCCAA (p.Thr2474ProfsTer26) c.7013_7014insACCCCAAACACACCCAA (p.Thr2339ProfsTer26) c.6371_6372insACCCCAAACACACCCAA (p.Thr2125ProfsTer26) c.3881_3882insACCCCAAACACACCCAA (p.Thr1295ProfsTer26) | |
10 | g.71799626C>A | CA470062226 | CDH23 | c.7359C>A (p.Thr2453=) c.1292C>A (n.1292C>A) c.956C>A (n.956C>A) c.7374C>A (p.Thr2458=) c.639C>A (p.Thr213=) n.895C>A c.7554C>A (p.Thr2518=) c.7488C>A (p.Thr2496=) c.7551C>A (p.Thr2517=) c.7548C>A (p.Thr2516=) c.7494C>A (p.Thr2498=) c.7464C>A (p.Thr2488=) c.7419C>A (p.Thr2473=) c.7014C>A (p.Thr2338=) c.6372C>A (p.Thr2124=) c.3882C>A (p.Thr1294=) | |
10 | g.71799626C= | CA1918878949 | CDH23 | c.7359C= (p.Thr2453=) c.1292C= (n.1292C=) c.956C= (n.956C=) c.7374C= (p.Thr2458=) c.639C= (p.Thr213=) n.895C= c.7554C= (p.Thr2518=) c.7488C= (p.Thr2496=) c.7551C= (p.Thr2517=) c.7548C= (p.Thr2516=) c.7494C= (p.Thr2498=) c.7464C= (p.Thr2488=) c.7419C= (p.Thr2473=) c.7014C= (p.Thr2338=) c.6372C= (p.Thr2124=) c.3882C= (p.Thr1294=) | |
10 | g.71799626C>G | CA470062228 | CDH23 | c.7359C>G (p.Thr2453=) c.1292C>G (n.1292C>G) c.956C>G (n.956C>G) c.7374C>G (p.Thr2458=) c.639C>G (p.Thr213=) n.895C>G c.7554C>G (p.Thr2518=) c.7488C>G (p.Thr2496=) c.7551C>G (p.Thr2517=) c.7548C>G (p.Thr2516=) c.7494C>G (p.Thr2498=) c.7464C>G (p.Thr2488=) c.7419C>G (p.Thr2473=) c.7014C>G (p.Thr2338=) c.6372C>G (p.Thr2124=) c.3882C>G (p.Thr1294=) | dbSNP |
10 | g.71799626C>T | CA470062227 | CDH23 | c.7359C>T (p.Thr2453=) c.1292C>T (n.1292C>T) c.956C>T (n.956C>T) c.7374C>T (p.Thr2458=) c.639C>T (p.Thr213=) n.895C>T c.7554C>T (p.Thr2518=) c.7488C>T (p.Thr2496=) c.7551C>T (p.Thr2517=) c.7548C>T (p.Thr2516=) c.7494C>T (p.Thr2498=) c.7464C>T (p.Thr2488=) c.7419C>T (p.Thr2473=) c.7014C>T (p.Thr2338=) c.6372C>T (p.Thr2124=) c.3882C>T (p.Thr1294=) | ClinVar dbSNP gnomAD v4 |
10 | g.71799627A= | CA1918878950 | CDH23 | c.7360A= (p.Thr2454=) c.1293A= (n.1293A=) c.957A= (n.957A=) c.7375A= (p.Thr2459=) c.640A= (p.Thr214=) n.896A= c.7555A= (p.Thr2519=) c.7489A= (p.Thr2497=) c.7552A= (p.Thr2518=) c.7549A= (p.Thr2517=) c.7495A= (p.Thr2499=) c.7465A= (p.Thr2489=) c.7420A= (p.Thr2474=) c.7015A= (p.Thr2339=) c.6373A= (p.Thr2125=) c.3883A= (p.Thr1295=) | |
10 | g.71799627A>C | CA377159723 | CDH23 | c.7360A>C (p.Thr2454Pro) c.1293A>C (n.1293A>C) c.957A>C (n.957A>C) c.7375A>C (p.Thr2459Pro) c.640A>C (p.Thr214Pro) n.896A>C c.7555A>C (p.Thr2519Pro) c.7489A>C (p.Thr2497Pro) c.7552A>C (p.Thr2518Pro) c.7549A>C (p.Thr2517Pro) c.7495A>C (p.Thr2499Pro) c.7465A>C (p.Thr2489Pro) c.7420A>C (p.Thr2474Pro) c.7015A>C (p.Thr2339Pro) c.6373A>C (p.Thr2125Pro) c.3883A>C (p.Thr1295Pro) | |
10 | g.71799627A>G | CA377159724 | CDH23 | c.7360A>G (p.Thr2454Ala) c.1293A>G (n.1293A>G) c.957A>G (n.957A>G) c.7375A>G (p.Thr2459Ala) c.640A>G (p.Thr214Ala) n.896A>G c.7555A>G (p.Thr2519Ala) c.7489A>G (p.Thr2497Ala) c.7552A>G (p.Thr2518Ala) c.7549A>G (p.Thr2517Ala) c.7495A>G (p.Thr2499Ala) c.7465A>G (p.Thr2489Ala) c.7420A>G (p.Thr2474Ala) c.7015A>G (p.Thr2339Ala) c.6373A>G (p.Thr2125Ala) c.3883A>G (p.Thr1295Ala) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71799627A>T | CA377159725 | CDH23 | c.7360A>T (p.Thr2454Ser) c.1293A>T (n.1293A>T) c.957A>T (n.957A>T) c.7375A>T (p.Thr2459Ser) c.640A>T (p.Thr214Ser) n.896A>T c.7555A>T (p.Thr2519Ser) c.7489A>T (p.Thr2497Ser) c.7552A>T (p.Thr2518Ser) c.7549A>T (p.Thr2517Ser) c.7495A>T (p.Thr2499Ser) c.7465A>T (p.Thr2489Ser) c.7420A>T (p.Thr2474Ser) c.7015A>T (p.Thr2339Ser) c.6373A>T (p.Thr2125Ser) c.3883A>T (p.Thr1295Ser) | |
10 | g.71799628C>A | CA377159726 | CDH23 | c.7361C>A (p.Thr2454Lys) c.1294C>A (n.1294C>A) c.958C>A (n.958C>A) c.7376C>A (p.Thr2459Lys) c.641C>A (p.Thr214Lys) n.897C>A c.7556C>A (p.Thr2519Lys) c.7490C>A (p.Thr2497Lys) c.7553C>A (p.Thr2518Lys) c.7550C>A (p.Thr2517Lys) c.7496C>A (p.Thr2499Lys) c.7466C>A (p.Thr2489Lys) c.7421C>A (p.Thr2474Lys) c.7016C>A (p.Thr2339Lys) c.6374C>A (p.Thr2125Lys) c.3884C>A (p.Thr1295Lys) | |
10 | g.71799628C= | CA1918878951 | CDH23 | c.7361C= (p.Thr2454=) c.1294C= (n.1294C=) c.958C= (n.958C=) c.7376C= (p.Thr2459=) c.641C= (p.Thr214=) n.897C= c.7556C= (p.Thr2519=) c.7490C= (p.Thr2497=) c.7553C= (p.Thr2518=) c.7550C= (p.Thr2517=) c.7496C= (p.Thr2499=) c.7466C= (p.Thr2489=) c.7421C= (p.Thr2474=) c.7016C= (p.Thr2339=) c.6374C= (p.Thr2125=) c.3884C= (p.Thr1295=) | |
10 | g.71799628C>G | CA209470464 | CDH23 | c.7361C>G (p.Thr2454Arg) c.1294C>G (n.1294C>G) c.958C>G (n.958C>G) c.7376C>G (p.Thr2459Arg) c.641C>G (p.Thr214Arg) n.897C>G c.7556C>G (p.Thr2519Arg) c.7490C>G (p.Thr2497Arg) c.7553C>G (p.Thr2518Arg) c.7550C>G (p.Thr2517Arg) c.7496C>G (p.Thr2499Arg) c.7466C>G (p.Thr2489Arg) c.7421C>G (p.Thr2474Arg) c.7016C>G (p.Thr2339Arg) c.6374C>G (p.Thr2125Arg) c.3884C>G (p.Thr1295Arg) | dbSNP gnomAD v4 |
10 | g.71799628C>T | CA5546309 | CDH23 | c.7361C>T (p.Thr2454Met) c.1294C>T (n.1294C>T) c.958C>T (n.958C>T) c.7376C>T (p.Thr2459Met) c.641C>T (p.Thr214Met) n.897C>T c.7556C>T (p.Thr2519Met) c.7490C>T (p.Thr2497Met) c.7553C>T (p.Thr2518Met) c.7550C>T (p.Thr2517Met) c.7496C>T (p.Thr2499Met) c.7466C>T (p.Thr2489Met) c.7421C>T (p.Thr2474Met) c.7016C>T (p.Thr2339Met) c.6374C>T (p.Thr2125Met) c.3884C>T (p.Thr1295Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71799629G>A | CA261797 | CDH23 | c.7362G>A (p.Thr2454=) c.1295G>A (n.1295G>A) c.959G>A (n.959G>A) c.7377G>A (p.Thr2459=) c.642G>A (p.Thr214=) n.898G>A c.7557G>A (p.Thr2519=) c.7491G>A (p.Thr2497=) c.7554G>A (p.Thr2518=) c.7551G>A (p.Thr2517=) c.7497G>A (p.Thr2499=) c.7467G>A (p.Thr2489=) c.7422G>A (p.Thr2474=) c.7017G>A (p.Thr2339=) c.6375G>A (p.Thr2125=) c.3885G>A (p.Thr1295=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71799629G>C | CA470062229 | CDH23 | c.7362G>C (p.Thr2454=) c.1295G>C (n.1295G>C) c.959G>C (n.959G>C) c.7377G>C (p.Thr2459=) c.642G>C (p.Thr214=) n.898G>C c.7557G>C (p.Thr2519=) c.7491G>C (p.Thr2497=) c.7554G>C (p.Thr2518=) c.7551G>C (p.Thr2517=) c.7497G>C (p.Thr2499=) c.7467G>C (p.Thr2489=) c.7422G>C (p.Thr2474=) c.7017G>C (p.Thr2339=) c.6375G>C (p.Thr2125=) c.3885G>C (p.Thr1295=) | gnomAD v4 |
10 | g.71799629G= | CA1918878952 | CDH23 | c.7362G= (p.Thr2454=) c.1295G= (n.1295G=) c.959G= (n.959G=) c.7377G= (p.Thr2459=) c.642G= (p.Thr214=) n.898G= c.7557G= (p.Thr2519=) c.7491G= (p.Thr2497=) c.7554G= (p.Thr2518=) c.7551G= (p.Thr2517=) c.7497G= (p.Thr2499=) c.7467G= (p.Thr2489=) c.7422G= (p.Thr2474=) c.7017G= (p.Thr2339=) c.6375G= (p.Thr2125=) c.3885G= (p.Thr1295=) | |
10 | g.71799629G>T | CA470062230 | CDH23 | c.7362G>T (p.Thr2454=) c.1295G>T (n.1295G>T) c.959G>T (n.959G>T) c.7377G>T (p.Thr2459=) c.642G>T (p.Thr214=) n.898G>T c.7557G>T (p.Thr2519=) c.7491G>T (p.Thr2497=) c.7554G>T (p.Thr2518=) c.7551G>T (p.Thr2517=) c.7497G>T (p.Thr2499=) c.7467G>T (p.Thr2489=) c.7422G>T (p.Thr2474=) c.7017G>T (p.Thr2339=) c.6375G>T (p.Thr2125=) c.3885G>T (p.Thr1295=) | |
10 | g.71799630G>A | CA377159727 | CDH23 | c.7362+1G>A (n.7362+1G>A) c.1295+1G>A (n.1295+1G>A) c.959+1G>A (n.959+1G>A) c.7377+1G>A (n.7377+1G>A) c.642+1G>A (n.642+1G>A) n.898+1G>A c.7557+1G>A (n.7557+1G>A) c.7491+1G>A (n.7491+1G>A) c.7554+1G>A (n.7554+1G>A) c.7551+1G>A (n.7551+1G>A) c.7497+1G>A (n.7497+1G>A) c.7467+1G>A (n.7467+1G>A) c.7422+1G>A (n.7422+1G>A) c.7017+1G>A (n.7017+1G>A) c.6375+1G>A (n.6375+1G>A) c.3885+1G>A (n.3885+1G>A) | ClinVar dbSNP |
10 | g.71799630G>C | CA377159728 | CDH23 | c.7362+1G>C (n.7362+1G>C) c.1295+1G>C (n.1295+1G>C) c.959+1G>C (n.959+1G>C) c.7377+1G>C (n.7377+1G>C) c.642+1G>C (n.642+1G>C) n.898+1G>C c.7557+1G>C (n.7557+1G>C) c.7491+1G>C (n.7491+1G>C) c.7554+1G>C (n.7554+1G>C) c.7551+1G>C (n.7551+1G>C) c.7497+1G>C (n.7497+1G>C) c.7467+1G>C (n.7467+1G>C) c.7422+1G>C (n.7422+1G>C) c.7017+1G>C (n.7017+1G>C) c.6375+1G>C (n.6375+1G>C) c.3885+1G>C (n.3885+1G>C) | |
10 | g.71799630G>T | CA377159729 | CDH23 | c.7362+1G>T (n.7362+1G>T) c.1295+1G>T (n.1295+1G>T) c.959+1G>T (n.959+1G>T) c.7377+1G>T (n.7377+1G>T) c.642+1G>T (n.642+1G>T) n.898+1G>T c.7557+1G>T (n.7557+1G>T) c.7491+1G>T (n.7491+1G>T) c.7554+1G>T (n.7554+1G>T) c.7551+1G>T (n.7551+1G>T) c.7497+1G>T (n.7497+1G>T) c.7467+1G>T (n.7467+1G>T) c.7422+1G>T (n.7422+1G>T) c.7017+1G>T (n.7017+1G>T) c.6375+1G>T (n.6375+1G>T) c.3885+1G>T (n.3885+1G>T) | |
10 | g.71799631T>A | CA377159730 | CDH23 | c.7362+2T>A (n.7362+2T>A) c.1295+2T>A (n.1295+2T>A) c.959+2T>A (n.959+2T>A) c.7377+2T>A (n.7377+2T>A) c.642+2T>A (n.642+2T>A) n.898+2T>A c.7557+2T>A (n.7557+2T>A) c.7491+2T>A (n.7491+2T>A) c.7554+2T>A (n.7554+2T>A) c.7551+2T>A (n.7551+2T>A) c.7497+2T>A (n.7497+2T>A) c.7467+2T>A (n.7467+2T>A) c.7422+2T>A (n.7422+2T>A) c.7017+2T>A (n.7017+2T>A) c.6375+2T>A (n.6375+2T>A) c.3885+2T>A (n.3885+2T>A) | |
10 | g.71799631T>C | CA377159731 | CDH23 | c.7362+2T>C (n.7362+2T>C) c.1295+2T>C (n.1295+2T>C) c.959+2T>C (n.959+2T>C) c.7377+2T>C (n.7377+2T>C) c.642+2T>C (n.642+2T>C) n.898+2T>C c.7557+2T>C (n.7557+2T>C) c.7491+2T>C (n.7491+2T>C) c.7554+2T>C (n.7554+2T>C) c.7551+2T>C (n.7551+2T>C) c.7497+2T>C (n.7497+2T>C) c.7467+2T>C (n.7467+2T>C) c.7422+2T>C (n.7422+2T>C) c.7017+2T>C (n.7017+2T>C) c.6375+2T>C (n.6375+2T>C) c.3885+2T>C (n.3885+2T>C) | |
10 | g.71799631T>G | CA377159732 | CDH23 | c.7362+2T>G (n.7362+2T>G) c.1295+2T>G (n.1295+2T>G) c.959+2T>G (n.959+2T>G) c.7377+2T>G (n.7377+2T>G) c.642+2T>G (n.642+2T>G) n.898+2T>G c.7557+2T>G (n.7557+2T>G) c.7491+2T>G (n.7491+2T>G) c.7554+2T>G (n.7554+2T>G) c.7551+2T>G (n.7551+2T>G) c.7497+2T>G (n.7497+2T>G) c.7467+2T>G (n.7467+2T>G) c.7422+2T>G (n.7422+2T>G) c.7017+2T>G (n.7017+2T>G) c.6375+2T>G (n.6375+2T>G) c.3885+2T>G (n.3885+2T>G) | |
10 | g.71799632G>A | CA5546310 | CDH23 | c.7362+3G>A (n.7362+3G>A) c.1295+3G>A (n.1295+3G>A) c.959+3G>A (n.959+3G>A) c.7377+3G>A (n.7377+3G>A) c.642+3G>A (n.642+3G>A) n.898+3G>A c.7557+3G>A (n.7557+3G>A) c.7491+3G>A (n.7491+3G>A) c.7554+3G>A (n.7554+3G>A) c.7551+3G>A (n.7551+3G>A) c.7497+3G>A (n.7497+3G>A) c.7467+3G>A (n.7467+3G>A) c.7422+3G>A (n.7422+3G>A) c.7017+3G>A (n.7017+3G>A) c.6375+3G>A (n.6375+3G>A) c.3885+3G>A (n.3885+3G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71799632G= | CA1918878953 | CDH23 | c.7362+3G= (n.7362+3G=) c.1295+3G= (n.1295+3G=) c.959+3G= (n.959+3G=) c.7377+3G= (n.7377+3G=) c.642+3G= (n.642+3G=) n.898+3G= c.7557+3G= (n.7557+3G=) c.7491+3G= (n.7491+3G=) c.7554+3G= (n.7554+3G=) c.7551+3G= (n.7551+3G=) c.7497+3G= (n.7497+3G=) c.7467+3G= (n.7467+3G=) c.7422+3G= (n.7422+3G=) c.7017+3G= (n.7017+3G=) c.6375+3G= (n.6375+3G=) c.3885+3G= (n.3885+3G=) | |
10 | g.71799632G>T | CA2609590044 | CDH23 | c.7362+3G>T (n.7362+3G>T) c.1295+3G>T (n.1295+3G>T) c.959+3G>T (n.959+3G>T) c.7377+3G>T (n.7377+3G>T) c.642+3G>T (n.642+3G>T) n.898+3G>T c.7557+3G>T (n.7557+3G>T) c.7491+3G>T (n.7491+3G>T) c.7554+3G>T (n.7554+3G>T) c.7551+3G>T (n.7551+3G>T) c.7497+3G>T (n.7497+3G>T) c.7467+3G>T (n.7467+3G>T) c.7422+3G>T (n.7422+3G>T) c.7017+3G>T (n.7017+3G>T) c.6375+3G>T (n.6375+3G>T) c.3885+3G>T (n.3885+3G>T) | gnomAD v4 |
10 | g.71799634G>A | CA253325 | CDH23 | c.7362+5G>A (n.7362+5G>A) c.1295+5G>A (n.1295+5G>A) c.959+5G>A (n.959+5G>A) c.7377+5G>A (n.7377+5G>A) c.642+5G>A (n.642+5G>A) n.898+5G>A c.7557+5G>A (n.7557+5G>A) c.7491+5G>A (n.7491+5G>A) c.7554+5G>A (n.7554+5G>A) c.7551+5G>A (n.7551+5G>A) c.7497+5G>A (n.7497+5G>A) c.7467+5G>A (n.7467+5G>A) c.7422+5G>A (n.7422+5G>A) c.7017+5G>A (n.7017+5G>A) c.6375+5G>A (n.6375+5G>A) c.3885+5G>A (n.3885+5G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.71799634G= | CA1918878954 | CDH23 | c.7362+5G= (n.7362+5G=) c.1295+5G= (n.1295+5G=) c.959+5G= (n.959+5G=) c.7377+5G= (n.7377+5G=) c.642+5G= (n.642+5G=) n.898+5G= c.7557+5G= (n.7557+5G=) c.7491+5G= (n.7491+5G=) c.7554+5G= (n.7554+5G=) c.7551+5G= (n.7551+5G=) c.7497+5G= (n.7497+5G=) c.7467+5G= (n.7467+5G=) c.7422+5G= (n.7422+5G=) c.7017+5G= (n.7017+5G=) c.6375+5G= (n.6375+5G=) c.3885+5G= (n.3885+5G=) |