Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.71802989G>A | CA377160675 | CDH23 | c.7574G>A (p.Gly2525Asp) c.1507G>A (n.1507G>A) c.1171G>A (n.1171G>A) c.7589G>A (p.Gly2530Asp) c.854G>A (p.Gly285Asp) n.1110G>A c.7769G>A (p.Gly2590Asp) c.7703G>A (p.Gly2568Asp) c.7766G>A (p.Gly2589Asp) c.7763G>A (p.Gly2588Asp) c.7709G>A (p.Gly2570Asp) c.7679G>A (p.Gly2560Asp) c.7634G>A (p.Gly2545Asp) c.7229G>A (p.Gly2410Asp) c.6587G>A (p.Gly2196Asp) c.4097G>A (p.Gly1366Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71802989G>C | CA377160676 | CDH23 | c.7574G>C (p.Gly2525Ala) c.1507G>C (n.1507G>C) c.1171G>C (n.1171G>C) c.7589G>C (p.Gly2530Ala) c.854G>C (p.Gly285Ala) n.1110G>C c.7769G>C (p.Gly2590Ala) c.7703G>C (p.Gly2568Ala) c.7766G>C (p.Gly2589Ala) c.7763G>C (p.Gly2588Ala) c.7709G>C (p.Gly2570Ala) c.7679G>C (p.Gly2560Ala) c.7634G>C (p.Gly2545Ala) c.7229G>C (p.Gly2410Ala) c.6587G>C (p.Gly2196Ala) c.4097G>C (p.Gly1366Ala) | |
10 | g.71802989G= | CA1918880422 | CDH23 | c.7574G= (p.Gly2525=) c.1507G= (n.1507G=) c.1171G= (n.1171G=) c.7589G= (p.Gly2530=) c.854G= (p.Gly285=) n.1110G= c.7769G= (p.Gly2590=) c.7703G= (p.Gly2568=) c.7766G= (p.Gly2589=) c.7763G= (p.Gly2588=) c.7709G= (p.Gly2570=) c.7679G= (p.Gly2560=) c.7634G= (p.Gly2545=) c.7229G= (p.Gly2410=) c.6587G= (p.Gly2196=) c.4097G= (p.Gly1366=) | |
10 | g.71802989G>T | CA377160677 | CDH23 | c.7574G>T (p.Gly2525Val) c.1507G>T (n.1507G>T) c.1171G>T (n.1171G>T) c.7589G>T (p.Gly2530Val) c.854G>T (p.Gly285Val) n.1110G>T c.7769G>T (p.Gly2590Val) c.7703G>T (p.Gly2568Val) c.7766G>T (p.Gly2589Val) c.7763G>T (p.Gly2588Val) c.7709G>T (p.Gly2570Val) c.7679G>T (p.Gly2560Val) c.7634G>T (p.Gly2545Val) c.7229G>T (p.Gly2410Val) c.6587G>T (p.Gly2196Val) c.4097G>T (p.Gly1366Val) | COSMIC |
10 | g.71802990C>A | CA470062488 | CDH23 | c.7575C>A (p.Gly2525=) c.1508C>A (n.1508C>A) c.1172C>A (n.1172C>A) c.7590C>A (p.Gly2530=) c.855C>A (p.Gly285=) n.1111C>A c.7770C>A (p.Gly2590=) c.7704C>A (p.Gly2568=) c.7767C>A (p.Gly2589=) c.7764C>A (p.Gly2588=) c.7710C>A (p.Gly2570=) c.7680C>A (p.Gly2560=) c.7635C>A (p.Gly2545=) c.7230C>A (p.Gly2410=) c.6588C>A (p.Gly2196=) c.4098C>A (p.Gly1366=) | |
10 | g.71802990C>G | CA470062490 | CDH23 | c.7575C>G (p.Gly2525=) c.1508C>G (n.1508C>G) c.1172C>G (n.1172C>G) c.7590C>G (p.Gly2530=) c.855C>G (p.Gly285=) n.1111C>G c.7770C>G (p.Gly2590=) c.7704C>G (p.Gly2568=) c.7767C>G (p.Gly2589=) c.7764C>G (p.Gly2588=) c.7710C>G (p.Gly2570=) c.7680C>G (p.Gly2560=) c.7635C>G (p.Gly2545=) c.7230C>G (p.Gly2410=) c.6588C>G (p.Gly2196=) c.4098C>G (p.Gly1366=) | |
10 | g.71802990C>T | CA470062489 | CDH23 | c.7575C>T (p.Gly2525=) c.1508C>T (n.1508C>T) c.1172C>T (n.1172C>T) c.7590C>T (p.Gly2530=) c.855C>T (p.Gly285=) n.1111C>T c.7770C>T (p.Gly2590=) c.7704C>T (p.Gly2568=) c.7767C>T (p.Gly2589=) c.7764C>T (p.Gly2588=) c.7710C>T (p.Gly2570=) c.7680C>T (p.Gly2560=) c.7635C>T (p.Gly2545=) c.7230C>T (p.Gly2410=) c.6588C>T (p.Gly2196=) c.4098C>T (p.Gly1366=) | gnomAD v4 |
10 | g.71802991A>C | CA377160678 | CDH23 | c.7576A>C (p.Thr2526Pro) c.1509A>C (n.1509A>C) c.1173A>C (n.1173A>C) c.7591A>C (p.Thr2531Pro) c.856A>C (p.Thr286Pro) n.1112A>C c.7771A>C (p.Thr2591Pro) c.7705A>C (p.Thr2569Pro) c.7768A>C (p.Thr2590Pro) c.7765A>C (p.Thr2589Pro) c.7711A>C (p.Thr2571Pro) c.7681A>C (p.Thr2561Pro) c.7636A>C (p.Thr2546Pro) c.7231A>C (p.Thr2411Pro) c.6589A>C (p.Thr2197Pro) c.4099A>C (p.Thr1367Pro) | gnomAD v4 |
10 | g.71802991A>G | CA377160680 | CDH23 | c.7576A>G (p.Thr2526Ala) c.1509A>G (n.1509A>G) c.1173A>G (n.1173A>G) c.7591A>G (p.Thr2531Ala) c.856A>G (p.Thr286Ala) n.1112A>G c.7771A>G (p.Thr2591Ala) c.7705A>G (p.Thr2569Ala) c.7768A>G (p.Thr2590Ala) c.7765A>G (p.Thr2589Ala) c.7711A>G (p.Thr2571Ala) c.7681A>G (p.Thr2561Ala) c.7636A>G (p.Thr2546Ala) c.7231A>G (p.Thr2411Ala) c.6589A>G (p.Thr2197Ala) c.4099A>G (p.Thr1367Ala) | |
10 | g.71802991A>T | CA377160681 | CDH23 | c.7576A>T (p.Thr2526Ser) c.1509A>T (n.1509A>T) c.1173A>T (n.1173A>T) c.7591A>T (p.Thr2531Ser) c.856A>T (p.Thr286Ser) n.1112A>T c.7771A>T (p.Thr2591Ser) c.7705A>T (p.Thr2569Ser) c.7768A>T (p.Thr2590Ser) c.7765A>T (p.Thr2589Ser) c.7711A>T (p.Thr2571Ser) c.7681A>T (p.Thr2561Ser) c.7636A>T (p.Thr2546Ser) c.7231A>T (p.Thr2411Ser) c.6589A>T (p.Thr2197Ser) c.4099A>T (p.Thr1367Ser) | |
10 | g.71802992C>A | CA377160684 | CDH23 | c.7577C>A (p.Thr2526Asn) c.1510C>A (n.1510C>A) c.1174C>A (n.1174C>A) c.7592C>A (p.Thr2531Asn) c.857C>A (p.Thr286Asn) n.1113C>A c.7772C>A (p.Thr2591Asn) c.7706C>A (p.Thr2569Asn) c.7769C>A (p.Thr2590Asn) c.7766C>A (p.Thr2589Asn) c.7712C>A (p.Thr2571Asn) c.7682C>A (p.Thr2561Asn) c.7637C>A (p.Thr2546Asn) c.7232C>A (p.Thr2411Asn) c.6590C>A (p.Thr2197Asn) c.4100C>A (p.Thr1367Asn) | |
10 | g.71802992C= | CA1918880423 | CDH23 | c.7577C= (p.Thr2526=) c.1510C= (n.1510C=) c.1174C= (n.1174C=) c.7592C= (p.Thr2531=) c.857C= (p.Thr286=) n.1113C= c.7772C= (p.Thr2591=) c.7706C= (p.Thr2569=) c.7769C= (p.Thr2590=) c.7766C= (p.Thr2589=) c.7712C= (p.Thr2571=) c.7682C= (p.Thr2561=) c.7637C= (p.Thr2546=) c.7232C= (p.Thr2411=) c.6590C= (p.Thr2197=) c.4100C= (p.Thr1367=) | |
10 | g.71802992C>G | CA377160685 | CDH23 | c.7577C>G (p.Thr2526Ser) c.1510C>G (n.1510C>G) c.1174C>G (n.1174C>G) c.7592C>G (p.Thr2531Ser) c.857C>G (p.Thr286Ser) n.1113C>G c.7772C>G (p.Thr2591Ser) c.7706C>G (p.Thr2569Ser) c.7769C>G (p.Thr2590Ser) c.7766C>G (p.Thr2589Ser) c.7712C>G (p.Thr2571Ser) c.7682C>G (p.Thr2561Ser) c.7637C>G (p.Thr2546Ser) c.7232C>G (p.Thr2411Ser) c.6590C>G (p.Thr2197Ser) c.4100C>G (p.Thr1367Ser) | dbSNP |
10 | g.71802992C>T | CA377160687 | CDH23 | c.7577C>T (p.Thr2526Ile) c.1510C>T (n.1510C>T) c.1174C>T (n.1174C>T) c.7592C>T (p.Thr2531Ile) c.857C>T (p.Thr286Ile) n.1113C>T c.7772C>T (p.Thr2591Ile) c.7706C>T (p.Thr2569Ile) c.7769C>T (p.Thr2590Ile) c.7766C>T (p.Thr2589Ile) c.7712C>T (p.Thr2571Ile) c.7682C>T (p.Thr2561Ile) c.7637C>T (p.Thr2546Ile) c.7232C>T (p.Thr2411Ile) c.6590C>T (p.Thr2197Ile) c.4100C>T (p.Thr1367Ile) | |
10 | g.71802993C>A | CA470062491 | CDH23 | c.7578C>A (p.Thr2526=) c.1511C>A (n.1511C>A) c.1175C>A (n.1175C>A) c.7593C>A (p.Thr2531=) c.858C>A (p.Thr286=) n.1114C>A c.7773C>A (p.Thr2591=) c.7707C>A (p.Thr2569=) c.7770C>A (p.Thr2590=) c.7767C>A (p.Thr2589=) c.7713C>A (p.Thr2571=) c.7683C>A (p.Thr2561=) c.7638C>A (p.Thr2546=) c.7233C>A (p.Thr2411=) c.6591C>A (p.Thr2197=) c.4101C>A (p.Thr1367=) | |
10 | g.71802993C>G | CA470062492 | CDH23 | c.7578C>G (p.Thr2526=) c.1511C>G (n.1511C>G) c.1175C>G (n.1175C>G) c.7593C>G (p.Thr2531=) c.858C>G (p.Thr286=) n.1114C>G c.7773C>G (p.Thr2591=) c.7707C>G (p.Thr2569=) c.7770C>G (p.Thr2590=) c.7767C>G (p.Thr2589=) c.7713C>G (p.Thr2571=) c.7683C>G (p.Thr2561=) c.7638C>G (p.Thr2546=) c.7233C>G (p.Thr2411=) c.6591C>G (p.Thr2197=) c.4101C>G (p.Thr1367=) | ClinVar gnomAD v4 |
10 | g.71802993C>T | CA470062493 | CDH23 | c.7578C>T (p.Thr2526=) c.1511C>T (n.1511C>T) c.1175C>T (n.1175C>T) c.7593C>T (p.Thr2531=) c.858C>T (p.Thr286=) n.1114C>T c.7773C>T (p.Thr2591=) c.7707C>T (p.Thr2569=) c.7770C>T (p.Thr2590=) c.7767C>T (p.Thr2589=) c.7713C>T (p.Thr2571=) c.7683C>T (p.Thr2561=) c.7638C>T (p.Thr2546=) c.7233C>T (p.Thr2411=) c.6591C>T (p.Thr2197=) c.4101C>T (p.Thr1367=) | gnomAD v4 COSMIC |
10 | g.71802994T>A | CA377160689 | CDH23 | c.7579T>A (p.Ser2527Thr) c.1512T>A (n.1512T>A) c.1176T>A (n.1176T>A) c.7594T>A (p.Ser2532Thr) c.859T>A (p.Ser287Thr) n.1115T>A c.7774T>A (p.Ser2592Thr) c.7708T>A (p.Ser2570Thr) c.7771T>A (p.Ser2591Thr) c.7768T>A (p.Ser2590Thr) c.7714T>A (p.Ser2572Thr) c.7684T>A (p.Ser2562Thr) c.7639T>A (p.Ser2547Thr) c.7234T>A (p.Ser2412Thr) c.6592T>A (p.Ser2198Thr) c.4102T>A (p.Ser1368Thr) | |
10 | g.71802994T>C | CA377160691 | CDH23 | c.7579T>C (p.Ser2527Pro) c.1512T>C (n.1512T>C) c.1176T>C (n.1176T>C) c.7594T>C (p.Ser2532Pro) c.859T>C (p.Ser287Pro) n.1115T>C c.7774T>C (p.Ser2592Pro) c.7708T>C (p.Ser2570Pro) c.7771T>C (p.Ser2591Pro) c.7768T>C (p.Ser2590Pro) c.7714T>C (p.Ser2572Pro) c.7684T>C (p.Ser2562Pro) c.7639T>C (p.Ser2547Pro) c.7234T>C (p.Ser2412Pro) c.6592T>C (p.Ser2198Pro) c.4102T>C (p.Ser1368Pro) | |
10 | g.71802994T>G | CA377160693 | CDH23 | c.7579T>G (p.Ser2527Ala) c.1512T>G (n.1512T>G) c.1176T>G (n.1176T>G) c.7594T>G (p.Ser2532Ala) c.859T>G (p.Ser287Ala) n.1115T>G c.7774T>G (p.Ser2592Ala) c.7708T>G (p.Ser2570Ala) c.7771T>G (p.Ser2591Ala) c.7768T>G (p.Ser2590Ala) c.7714T>G (p.Ser2572Ala) c.7684T>G (p.Ser2562Ala) c.7639T>G (p.Ser2547Ala) c.7234T>G (p.Ser2412Ala) c.6592T>G (p.Ser2198Ala) c.4102T>G (p.Ser1368Ala) | gnomAD v4 |
10 | g.71802995C>A | CA377160696 | CDH23 | c.7580C>A (p.Ser2527Ter) c.1513C>A (n.1513C>A) c.1177C>A (n.1177C>A) c.7595C>A (p.Ser2532Ter) c.860C>A (p.Ser287Ter) n.1116C>A c.7775C>A (p.Ser2592Ter) c.7709C>A (p.Ser2570Ter) c.7772C>A (p.Ser2591Ter) c.7769C>A (p.Ser2590Ter) c.7715C>A (p.Ser2572Ter) c.7685C>A (p.Ser2562Ter) c.7640C>A (p.Ser2547Ter) c.7235C>A (p.Ser2412Ter) c.6593C>A (p.Ser2198Ter) c.4103C>A (p.Ser1368Ter) | ClinVar |
10 | g.71802995C= | CA1918880424 | CDH23 | c.7580C= (p.Ser2527=) c.1513C= (n.1513C=) c.1177C= (n.1177C=) c.7595C= (p.Ser2532=) c.860C= (p.Ser287=) n.1116C= c.7775C= (p.Ser2592=) c.7709C= (p.Ser2570=) c.7772C= (p.Ser2591=) c.7769C= (p.Ser2590=) c.7715C= (p.Ser2572=) c.7685C= (p.Ser2562=) c.7640C= (p.Ser2547=) c.7235C= (p.Ser2412=) c.6593C= (p.Ser2198=) c.4103C= (p.Ser1368=) | |
10 | g.71802995C>G | CA377160698 | CDH23 | c.7580C>G (p.Ser2527Trp) c.1513C>G (n.1513C>G) c.1177C>G (n.1177C>G) c.7595C>G (p.Ser2532Trp) c.860C>G (p.Ser287Trp) n.1116C>G c.7775C>G (p.Ser2592Trp) c.7709C>G (p.Ser2570Trp) c.7772C>G (p.Ser2591Trp) c.7769C>G (p.Ser2590Trp) c.7715C>G (p.Ser2572Trp) c.7685C>G (p.Ser2562Trp) c.7640C>G (p.Ser2547Trp) c.7235C>G (p.Ser2412Trp) c.6593C>G (p.Ser2198Trp) c.4103C>G (p.Ser1368Trp) | |
10 | g.71802995C>T | CA5546380 | CDH23 | c.7580C>T (p.Ser2527Leu) c.1513C>T (n.1513C>T) c.1177C>T (n.1177C>T) c.7595C>T (p.Ser2532Leu) c.860C>T (p.Ser287Leu) n.1116C>T c.7775C>T (p.Ser2592Leu) c.7709C>T (p.Ser2570Leu) c.7772C>T (p.Ser2591Leu) c.7769C>T (p.Ser2590Leu) c.7715C>T (p.Ser2572Leu) c.7685C>T (p.Ser2562Leu) c.7640C>T (p.Ser2547Leu) c.7235C>T (p.Ser2412Leu) c.6593C>T (p.Ser2198Leu) c.4103C>T (p.Ser1368Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71802996G>A | CA5546381 | CDH23 | c.7581G>A (p.Ser2527=) c.1514G>A (n.1514G>A) c.1178G>A (n.1178G>A) c.7596G>A (p.Ser2532=) c.861G>A (p.Ser287=) n.1117G>A c.7776G>A (p.Ser2592=) c.7710G>A (p.Ser2570=) c.7773G>A (p.Ser2591=) c.7770G>A (p.Ser2590=) c.7716G>A (p.Ser2572=) c.7686G>A (p.Ser2562=) c.7641G>A (p.Ser2547=) c.7236G>A (p.Ser2412=) c.6594G>A (p.Ser2198=) c.4104G>A (p.Ser1368=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71802996G>C | CA470062494 | CDH23 | c.7581G>C (p.Ser2527=) c.1514G>C (n.1514G>C) c.1178G>C (n.1178G>C) c.7596G>C (p.Ser2532=) c.861G>C (p.Ser287=) n.1117G>C c.7776G>C (p.Ser2592=) c.7710G>C (p.Ser2570=) c.7773G>C (p.Ser2591=) c.7770G>C (p.Ser2590=) c.7716G>C (p.Ser2572=) c.7686G>C (p.Ser2562=) c.7641G>C (p.Ser2547=) c.7236G>C (p.Ser2412=) c.6594G>C (p.Ser2198=) c.4104G>C (p.Ser1368=) | |
10 | g.71802996G= | CA1918880425 | CDH23 | c.7581G= (p.Ser2527=) c.1514G= (n.1514G=) c.1178G= (n.1178G=) c.7596G= (p.Ser2532=) c.861G= (p.Ser287=) n.1117G= c.7776G= (p.Ser2592=) c.7710G= (p.Ser2570=) c.7773G= (p.Ser2591=) c.7770G= (p.Ser2590=) c.7716G= (p.Ser2572=) c.7686G= (p.Ser2562=) c.7641G= (p.Ser2547=) c.7236G= (p.Ser2412=) c.6594G= (p.Ser2198=) c.4104G= (p.Ser1368=) | |
10 | g.71802996G>T | CA470062495 | CDH23 | c.7581G>T (p.Ser2527=) c.1514G>T (n.1514G>T) c.1178G>T (n.1178G>T) c.7596G>T (p.Ser2532=) c.861G>T (p.Ser287=) n.1117G>T c.7776G>T (p.Ser2592=) c.7710G>T (p.Ser2570=) c.7773G>T (p.Ser2591=) c.7770G>T (p.Ser2590=) c.7716G>T (p.Ser2572=) c.7686G>T (p.Ser2562=) c.7641G>T (p.Ser2547=) c.7236G>T (p.Ser2412=) c.6594G>T (p.Ser2198=) c.4104G>T (p.Ser1368=) | |
10 | g.71802997G>A | CA5546382 | CDH23 | c.7582G>A (p.Val2528Ile) c.1515G>A (n.1515G>A) c.1179G>A (n.1179G>A) c.7597G>A (p.Val2533Ile) c.862G>A (p.Val288Ile) n.1118G>A c.7777G>A (p.Val2593Ile) c.7711G>A (p.Val2571Ile) c.7774G>A (p.Val2592Ile) c.7771G>A (p.Val2591Ile) c.7717G>A (p.Val2573Ile) c.7687G>A (p.Val2563Ile) c.7642G>A (p.Val2548Ile) c.7237G>A (p.Val2413Ile) c.6595G>A (p.Val2199Ile) c.4105G>A (p.Val1369Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71802997G>C | CA377160702 | CDH23 | c.7582G>C (p.Val2528Leu) c.1515G>C (n.1515G>C) c.1179G>C (n.1179G>C) c.7597G>C (p.Val2533Leu) c.862G>C (p.Val288Leu) n.1118G>C c.7777G>C (p.Val2593Leu) c.7711G>C (p.Val2571Leu) c.7774G>C (p.Val2592Leu) c.7771G>C (p.Val2591Leu) c.7717G>C (p.Val2573Leu) c.7687G>C (p.Val2563Leu) c.7642G>C (p.Val2548Leu) c.7237G>C (p.Val2413Leu) c.6595G>C (p.Val2199Leu) c.4105G>C (p.Val1369Leu) | |
10 | g.71802997G= | CA1918880426 | CDH23 | c.7582G= (p.Val2528=) c.1515G= (n.1515G=) c.1179G= (n.1179G=) c.7597G= (p.Val2533=) c.862G= (p.Val288=) n.1118G= c.7777G= (p.Val2593=) c.7711G= (p.Val2571=) c.7774G= (p.Val2592=) c.7771G= (p.Val2591=) c.7717G= (p.Val2573=) c.7687G= (p.Val2563=) c.7642G= (p.Val2548=) c.7237G= (p.Val2413=) c.6595G= (p.Val2199=) c.4105G= (p.Val1369=) | |
10 | g.71802997G>T | CA377160704 | CDH23 | c.7582G>T (p.Val2528Phe) c.1515G>T (n.1515G>T) c.1179G>T (n.1179G>T) c.7597G>T (p.Val2533Phe) c.862G>T (p.Val288Phe) n.1118G>T c.7777G>T (p.Val2593Phe) c.7711G>T (p.Val2571Phe) c.7774G>T (p.Val2592Phe) c.7771G>T (p.Val2591Phe) c.7717G>T (p.Val2573Phe) c.7687G>T (p.Val2563Phe) c.7642G>T (p.Val2548Phe) c.7237G>T (p.Val2413Phe) c.6595G>T (p.Val2199Phe) c.4105G>T (p.Val1369Phe) | |
10 | g.71802998T>A | CA377160706 | CDH23 | c.7583T>A (p.Val2528Asp) c.1516T>A (n.1516T>A) c.1180T>A (n.1180T>A) c.7598T>A (p.Val2533Asp) c.863T>A (p.Val288Asp) n.1119T>A c.7778T>A (p.Val2593Asp) c.7712T>A (p.Val2571Asp) c.7775T>A (p.Val2592Asp) c.7772T>A (p.Val2591Asp) c.7718T>A (p.Val2573Asp) c.7688T>A (p.Val2563Asp) c.7643T>A (p.Val2548Asp) c.7238T>A (p.Val2413Asp) c.6596T>A (p.Val2199Asp) c.4106T>A (p.Val1369Asp) | |
10 | g.71802998T>C | CA377160708 | CDH23 | c.7583T>C (p.Val2528Ala) c.1516T>C (n.1516T>C) c.1180T>C (n.1180T>C) c.7598T>C (p.Val2533Ala) c.863T>C (p.Val288Ala) n.1119T>C c.7778T>C (p.Val2593Ala) c.7712T>C (p.Val2571Ala) c.7775T>C (p.Val2592Ala) c.7772T>C (p.Val2591Ala) c.7718T>C (p.Val2573Ala) c.7688T>C (p.Val2563Ala) c.7643T>C (p.Val2548Ala) c.7238T>C (p.Val2413Ala) c.6596T>C (p.Val2199Ala) c.4106T>C (p.Val1369Ala) | |
10 | g.71802998T>G | CA377160709 | CDH23 | c.7583T>G (p.Val2528Gly) c.1516T>G (n.1516T>G) c.1180T>G (n.1180T>G) c.7598T>G (p.Val2533Gly) c.863T>G (p.Val288Gly) n.1119T>G c.7778T>G (p.Val2593Gly) c.7712T>G (p.Val2571Gly) c.7775T>G (p.Val2592Gly) c.7772T>G (p.Val2591Gly) c.7718T>G (p.Val2573Gly) c.7688T>G (p.Val2563Gly) c.7643T>G (p.Val2548Gly) c.7238T>G (p.Val2413Gly) c.6596T>G (p.Val2199Gly) c.4106T>G (p.Val1369Gly) | |
10 | g.71802999C>A | CA470062496 | CDH23 | c.7584C>A (p.Val2528=) c.1517C>A (n.1517C>A) c.1181C>A (n.1181C>A) c.7599C>A (p.Val2533=) c.864C>A (p.Val288=) n.1120C>A c.7779C>A (p.Val2593=) c.7713C>A (p.Val2571=) c.7776C>A (p.Val2592=) c.7773C>A (p.Val2591=) c.7719C>A (p.Val2573=) c.7689C>A (p.Val2563=) c.7644C>A (p.Val2548=) c.7239C>A (p.Val2413=) c.6597C>A (p.Val2199=) c.4107C>A (p.Val1369=) | |
10 | g.71802999C>G | CA470062497 | CDH23 | c.7584C>G (p.Val2528=) c.1517C>G (n.1517C>G) c.1181C>G (n.1181C>G) c.7599C>G (p.Val2533=) c.864C>G (p.Val288=) n.1120C>G c.7779C>G (p.Val2593=) c.7713C>G (p.Val2571=) c.7776C>G (p.Val2592=) c.7773C>G (p.Val2591=) c.7719C>G (p.Val2573=) c.7689C>G (p.Val2563=) c.7644C>G (p.Val2548=) c.7239C>G (p.Val2413=) c.6597C>G (p.Val2199=) c.4107C>G (p.Val1369=) | |
10 | g.71802999C>T | CA470062498 | CDH23 | c.7584C>T (p.Val2528=) c.1517C>T (n.1517C>T) c.1181C>T (n.1181C>T) c.7599C>T (p.Val2533=) c.864C>T (p.Val288=) n.1120C>T c.7779C>T (p.Val2593=) c.7713C>T (p.Val2571=) c.7776C>T (p.Val2592=) c.7773C>T (p.Val2591=) c.7719C>T (p.Val2573=) c.7689C>T (p.Val2563=) c.7644C>T (p.Val2548=) c.7239C>T (p.Val2413=) c.6597C>T (p.Val2199=) c.4107C>T (p.Val1369=) | |
10 | g.71803000A>C | CA377160710 | CDH23 | c.7585A>C (p.Ile2529Leu) c.1518A>C (n.1518A>C) c.1182A>C (n.1182A>C) c.7600A>C (p.Ile2534Leu) c.865A>C (p.Ile289Leu) n.1121A>C c.7780A>C (p.Ile2594Leu) c.7714A>C (p.Ile2572Leu) c.7777A>C (p.Ile2593Leu) c.7774A>C (p.Ile2592Leu) c.7720A>C (p.Ile2574Leu) c.7690A>C (p.Ile2564Leu) c.7645A>C (p.Ile2549Leu) c.7240A>C (p.Ile2414Leu) c.6598A>C (p.Ile2200Leu) c.4108A>C (p.Ile1370Leu) | |
10 | g.71803000A>G | CA377160712 | CDH23 | c.7585A>G (p.Ile2529Val) c.1518A>G (n.1518A>G) c.1182A>G (n.1182A>G) c.7600A>G (p.Ile2534Val) c.865A>G (p.Ile289Val) n.1121A>G c.7780A>G (p.Ile2594Val) c.7714A>G (p.Ile2572Val) c.7777A>G (p.Ile2593Val) c.7774A>G (p.Ile2592Val) c.7720A>G (p.Ile2574Val) c.7690A>G (p.Ile2564Val) c.7645A>G (p.Ile2549Val) c.7240A>G (p.Ile2414Val) c.6598A>G (p.Ile2200Val) c.4108A>G (p.Ile1370Val) | |
10 | g.71803000A>T | CA377160711 | CDH23 | c.7585A>T (p.Ile2529Phe) c.1518A>T (n.1518A>T) c.1182A>T (n.1182A>T) c.7600A>T (p.Ile2534Phe) c.865A>T (p.Ile289Phe) n.1121A>T c.7780A>T (p.Ile2594Phe) c.7714A>T (p.Ile2572Phe) c.7777A>T (p.Ile2593Phe) c.7774A>T (p.Ile2592Phe) c.7720A>T (p.Ile2574Phe) c.7690A>T (p.Ile2564Phe) c.7645A>T (p.Ile2549Phe) c.7240A>T (p.Ile2414Phe) c.6598A>T (p.Ile2200Phe) c.4108A>T (p.Ile1370Phe) | |
10 | g.71803001T>A | CA377160713 | CDH23 | c.7586T>A (p.Ile2529Asn) c.1519T>A (n.1519T>A) c.1183T>A (n.1183T>A) c.7601T>A (p.Ile2534Asn) c.866T>A (p.Ile289Asn) n.1122T>A c.7781T>A (p.Ile2594Asn) c.7715T>A (p.Ile2572Asn) c.7778T>A (p.Ile2593Asn) c.7775T>A (p.Ile2592Asn) c.7721T>A (p.Ile2574Asn) c.7691T>A (p.Ile2564Asn) c.7646T>A (p.Ile2549Asn) c.7241T>A (p.Ile2414Asn) c.6599T>A (p.Ile2200Asn) c.4109T>A (p.Ile1370Asn) | |
10 | g.71803001T>C | CA377160714 | CDH23 | c.7586T>C (p.Ile2529Thr) c.1519T>C (n.1519T>C) c.1183T>C (n.1183T>C) c.7601T>C (p.Ile2534Thr) c.866T>C (p.Ile289Thr) n.1122T>C c.7781T>C (p.Ile2594Thr) c.7715T>C (p.Ile2572Thr) c.7778T>C (p.Ile2593Thr) c.7775T>C (p.Ile2592Thr) c.7721T>C (p.Ile2574Thr) c.7691T>C (p.Ile2564Thr) c.7646T>C (p.Ile2549Thr) c.7241T>C (p.Ile2414Thr) c.6599T>C (p.Ile2200Thr) c.4109T>C (p.Ile1370Thr) | |
10 | g.71803001T>G | CA377160715 | CDH23 | c.7586T>G (p.Ile2529Ser) c.1519T>G (n.1519T>G) c.1183T>G (n.1183T>G) c.7601T>G (p.Ile2534Ser) c.866T>G (p.Ile289Ser) n.1122T>G c.7781T>G (p.Ile2594Ser) c.7715T>G (p.Ile2572Ser) c.7778T>G (p.Ile2593Ser) c.7775T>G (p.Ile2592Ser) c.7721T>G (p.Ile2574Ser) c.7691T>G (p.Ile2564Ser) c.7646T>G (p.Ile2549Ser) c.7241T>G (p.Ile2414Ser) c.6599T>G (p.Ile2200Ser) c.4109T>G (p.Ile1370Ser) | |
10 | g.71803002C>A | CA470062499 | CDH23 | c.7587C>A (p.Ile2529=) c.1520C>A (n.1520C>A) c.1184C>A (n.1184C>A) c.7602C>A (p.Ile2534=) c.867C>A (p.Ile289=) n.1123C>A c.7782C>A (p.Ile2594=) c.7716C>A (p.Ile2572=) c.7779C>A (p.Ile2593=) c.7776C>A (p.Ile2592=) c.7722C>A (p.Ile2574=) c.7692C>A (p.Ile2564=) c.7647C>A (p.Ile2549=) c.7242C>A (p.Ile2414=) c.6600C>A (p.Ile2200=) c.4110C>A (p.Ile1370=) | |
10 | g.71803002C= | CA1918880427 | CDH23 | c.7587C= (p.Ile2529=) c.1520C= (n.1520C=) c.1184C= (n.1184C=) c.7602C= (p.Ile2534=) c.867C= (p.Ile289=) n.1123C= c.7782C= (p.Ile2594=) c.7716C= (p.Ile2572=) c.7779C= (p.Ile2593=) c.7776C= (p.Ile2592=) c.7722C= (p.Ile2574=) c.7692C= (p.Ile2564=) c.7647C= (p.Ile2549=) c.7242C= (p.Ile2414=) c.6600C= (p.Ile2200=) c.4110C= (p.Ile1370=) | |
10 | g.71803002C>G | CA377160717 | CDH23 | c.7587C>G (p.Ile2529Met) c.1520C>G (n.1520C>G) c.1184C>G (n.1184C>G) c.7602C>G (p.Ile2534Met) c.867C>G (p.Ile289Met) n.1123C>G c.7782C>G (p.Ile2594Met) c.7716C>G (p.Ile2572Met) c.7779C>G (p.Ile2593Met) c.7776C>G (p.Ile2592Met) c.7722C>G (p.Ile2574Met) c.7692C>G (p.Ile2564Met) c.7647C>G (p.Ile2549Met) c.7242C>G (p.Ile2414Met) c.6600C>G (p.Ile2200Met) c.4110C>G (p.Ile1370Met) | |
10 | g.71803002C>T | CA470062500 | CDH23 | c.7587C>T (p.Ile2529=) c.1520C>T (n.1520C>T) c.1184C>T (n.1184C>T) c.7602C>T (p.Ile2534=) c.867C>T (p.Ile289=) n.1123C>T c.7782C>T (p.Ile2594=) c.7716C>T (p.Ile2572=) c.7779C>T (p.Ile2593=) c.7776C>T (p.Ile2592=) c.7722C>T (p.Ile2574=) c.7692C>T (p.Ile2564=) c.7647C>T (p.Ile2549=) c.7242C>T (p.Ile2414=) c.6600C>T (p.Ile2200=) c.4110C>T (p.Ile1370=) | dbSNP |
10 | g.71803003A>C | CA377160721 | CDH23 | c.7588A>C (p.Thr2530Pro) c.1521A>C (n.1521A>C) c.1185A>C (n.1185A>C) c.7603A>C (p.Thr2535Pro) c.868A>C (p.Thr290Pro) n.1124A>C c.7783A>C (p.Thr2595Pro) c.7717A>C (p.Thr2573Pro) c.7780A>C (p.Thr2594Pro) c.7777A>C (p.Thr2593Pro) c.7723A>C (p.Thr2575Pro) c.7693A>C (p.Thr2565Pro) c.7648A>C (p.Thr2550Pro) c.7243A>C (p.Thr2415Pro) c.6601A>C (p.Thr2201Pro) c.4111A>C (p.Thr1371Pro) | |
10 | g.71803003A>G | CA377160719 | CDH23 | c.7588A>G (p.Thr2530Ala) c.1521A>G (n.1521A>G) c.1185A>G (n.1185A>G) c.7603A>G (p.Thr2535Ala) c.868A>G (p.Thr290Ala) n.1124A>G c.7783A>G (p.Thr2595Ala) c.7717A>G (p.Thr2573Ala) c.7780A>G (p.Thr2594Ala) c.7777A>G (p.Thr2593Ala) c.7723A>G (p.Thr2575Ala) c.7693A>G (p.Thr2565Ala) c.7648A>G (p.Thr2550Ala) c.7243A>G (p.Thr2415Ala) c.6601A>G (p.Thr2201Ala) c.4111A>G (p.Thr1371Ala) | |
10 | g.71803003A>T | CA377160720 | CDH23 | c.7588A>T (p.Thr2530Ser) c.1521A>T (n.1521A>T) c.1185A>T (n.1185A>T) c.7603A>T (p.Thr2535Ser) c.868A>T (p.Thr290Ser) n.1124A>T c.7783A>T (p.Thr2595Ser) c.7717A>T (p.Thr2573Ser) c.7780A>T (p.Thr2594Ser) c.7777A>T (p.Thr2593Ser) c.7723A>T (p.Thr2575Ser) c.7693A>T (p.Thr2565Ser) c.7648A>T (p.Thr2550Ser) c.7243A>T (p.Thr2415Ser) c.6601A>T (p.Thr2201Ser) c.4111A>T (p.Thr1371Ser) | |
10 | g.71803004C>A | CA377160722 | CDH23 | c.7589C>A (p.Thr2530Asn) c.1522C>A (n.1522C>A) c.1186C>A (n.1186C>A) c.7604C>A (p.Thr2535Asn) c.869C>A (p.Thr290Asn) n.1125C>A c.7784C>A (p.Thr2595Asn) c.7718C>A (p.Thr2573Asn) c.7781C>A (p.Thr2594Asn) c.7778C>A (p.Thr2593Asn) c.7724C>A (p.Thr2575Asn) c.7694C>A (p.Thr2565Asn) c.7649C>A (p.Thr2550Asn) c.7244C>A (p.Thr2415Asn) c.6602C>A (p.Thr2201Asn) c.4112C>A (p.Thr1371Asn) | |
10 | g.71803004C= | CA1918880428 | CDH23 | c.7589C= (p.Thr2530=) c.1522C= (n.1522C=) c.1186C= (n.1186C=) c.7604C= (p.Thr2535=) c.869C= (p.Thr290=) n.1125C= c.7784C= (p.Thr2595=) c.7718C= (p.Thr2573=) c.7781C= (p.Thr2594=) c.7778C= (p.Thr2593=) c.7724C= (p.Thr2575=) c.7694C= (p.Thr2565=) c.7649C= (p.Thr2550=) c.7244C= (p.Thr2415=) c.6602C= (p.Thr2201=) c.4112C= (p.Thr1371=) | |
10 | g.71803004C>G | CA377160723 | CDH23 | c.7589C>G (p.Thr2530Ser) c.1522C>G (n.1522C>G) c.1186C>G (n.1186C>G) c.7604C>G (p.Thr2535Ser) c.869C>G (p.Thr290Ser) n.1125C>G c.7784C>G (p.Thr2595Ser) c.7718C>G (p.Thr2573Ser) c.7781C>G (p.Thr2594Ser) c.7778C>G (p.Thr2593Ser) c.7724C>G (p.Thr2575Ser) c.7694C>G (p.Thr2565Ser) c.7649C>G (p.Thr2550Ser) c.7244C>G (p.Thr2415Ser) c.6602C>G (p.Thr2201Ser) c.4112C>G (p.Thr1371Ser) | |
10 | g.71803004C>T | CA5546383 | CDH23 | c.7589C>T (p.Thr2530Ile) c.1522C>T (n.1522C>T) c.1186C>T (n.1186C>T) c.7604C>T (p.Thr2535Ile) c.869C>T (p.Thr290Ile) n.1125C>T c.7784C>T (p.Thr2595Ile) c.7718C>T (p.Thr2573Ile) c.7781C>T (p.Thr2594Ile) c.7778C>T (p.Thr2593Ile) c.7724C>T (p.Thr2575Ile) c.7694C>T (p.Thr2565Ile) c.7649C>T (p.Thr2550Ile) c.7244C>T (p.Thr2415Ile) c.6602C>T (p.Thr2201Ile) c.4112C>T (p.Thr1371Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71803005C>A | CA5546384 | CDH23 | c.7590C>A (p.Thr2530=) c.1523C>A (n.1523C>A) c.1187C>A (n.1187C>A) c.7605C>A (p.Thr2535=) c.870C>A (p.Thr290=) n.1126C>A c.7785C>A (p.Thr2595=) c.7719C>A (p.Thr2573=) c.7782C>A (p.Thr2594=) c.7779C>A (p.Thr2593=) c.7725C>A (p.Thr2575=) c.7695C>A (p.Thr2565=) c.7650C>A (p.Thr2550=) c.7245C>A (p.Thr2415=) c.6603C>A (p.Thr2201=) c.4113C>A (p.Thr1371=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71803005C= | CA1918880429 | CDH23 | c.7590C= (p.Thr2530=) c.1523C= (n.1523C=) c.1187C= (n.1187C=) c.7605C= (p.Thr2535=) c.870C= (p.Thr290=) n.1126C= c.7785C= (p.Thr2595=) c.7719C= (p.Thr2573=) c.7782C= (p.Thr2594=) c.7779C= (p.Thr2593=) c.7725C= (p.Thr2575=) c.7695C= (p.Thr2565=) c.7650C= (p.Thr2550=) c.7245C= (p.Thr2415=) c.6603C= (p.Thr2201=) c.4113C= (p.Thr1371=) | |
10 | g.71803005C>G | CA470062502 | CDH23 | c.7590C>G (p.Thr2530=) c.1523C>G (n.1523C>G) c.1187C>G (n.1187C>G) c.7605C>G (p.Thr2535=) c.870C>G (p.Thr290=) n.1126C>G c.7785C>G (p.Thr2595=) c.7719C>G (p.Thr2573=) c.7782C>G (p.Thr2594=) c.7779C>G (p.Thr2593=) c.7725C>G (p.Thr2575=) c.7695C>G (p.Thr2565=) c.7650C>G (p.Thr2550=) c.7245C>G (p.Thr2415=) c.6603C>G (p.Thr2201=) c.4113C>G (p.Thr1371=) | |
10 | g.71803005C>T | CA470062501 | CDH23 | c.7590C>T (p.Thr2530=) c.1523C>T (n.1523C>T) c.1187C>T (n.1187C>T) c.7605C>T (p.Thr2535=) c.870C>T (p.Thr290=) n.1126C>T c.7785C>T (p.Thr2595=) c.7719C>T (p.Thr2573=) c.7782C>T (p.Thr2594=) c.7779C>T (p.Thr2593=) c.7725C>T (p.Thr2575=) c.7695C>T (p.Thr2565=) c.7650C>T (p.Thr2550=) c.7245C>T (p.Thr2415=) c.6603C>T (p.Thr2201=) c.4113C>T (p.Thr1371=) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71803006A= | CA1918880430 | CDH23 | c.7591A= (p.Met2531=) c.1524A= (n.1524A=) c.1188A= (n.1188A=) c.7606A= (p.Met2536=) c.871A= (p.Met291=) n.1127A= c.7786A= (p.Met2596=) c.7720A= (p.Met2574=) c.7783A= (p.Met2595=) c.7780A= (p.Met2594=) c.7726A= (p.Met2576=) c.7696A= (p.Met2566=) c.7651A= (p.Met2551=) c.7246A= (p.Met2416=) c.6604A= (p.Met2202=) c.4114A= (p.Met1372=) | |
10 | g.71803006A>C | CA377160726 | CDH23 | c.7591A>C (p.Met2531Leu) c.1524A>C (n.1524A>C) c.1188A>C (n.1188A>C) c.7606A>C (p.Met2536Leu) c.871A>C (p.Met291Leu) n.1127A>C c.7786A>C (p.Met2596Leu) c.7720A>C (p.Met2574Leu) c.7783A>C (p.Met2595Leu) c.7780A>C (p.Met2594Leu) c.7726A>C (p.Met2576Leu) c.7696A>C (p.Met2566Leu) c.7651A>C (p.Met2551Leu) c.7246A>C (p.Met2416Leu) c.6604A>C (p.Met2202Leu) c.4114A>C (p.Met1372Leu) | |
10 | g.71803006A>G | CA5546385 | CDH23 | c.7591A>G (p.Met2531Val) c.1524A>G (n.1524A>G) c.1188A>G (n.1188A>G) c.7606A>G (p.Met2536Val) c.871A>G (p.Met291Val) n.1127A>G c.7786A>G (p.Met2596Val) c.7720A>G (p.Met2574Val) c.7783A>G (p.Met2595Val) c.7780A>G (p.Met2594Val) c.7726A>G (p.Met2576Val) c.7696A>G (p.Met2566Val) c.7651A>G (p.Met2551Val) c.7246A>G (p.Met2416Val) c.6604A>G (p.Met2202Val) c.4114A>G (p.Met1372Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71803006A>T | CA377160729 | CDH23 | c.7591A>T (p.Met2531Leu) c.1524A>T (n.1524A>T) c.1188A>T (n.1188A>T) c.7606A>T (p.Met2536Leu) c.871A>T (p.Met291Leu) n.1127A>T c.7786A>T (p.Met2596Leu) c.7720A>T (p.Met2574Leu) c.7783A>T (p.Met2595Leu) c.7780A>T (p.Met2594Leu) c.7726A>T (p.Met2576Leu) c.7696A>T (p.Met2566Leu) c.7651A>T (p.Met2551Leu) c.7246A>T (p.Met2416Leu) c.6604A>T (p.Met2202Leu) c.4114A>T (p.Met1372Leu) | |
10 | g.71803007T>A | CA377160731 | CDH23 | c.7592T>A (p.Met2531Lys) c.1525T>A (n.1525T>A) c.1189T>A (n.1189T>A) c.7607T>A (p.Met2536Lys) c.872T>A (p.Met291Lys) n.1128T>A c.7787T>A (p.Met2596Lys) c.7721T>A (p.Met2574Lys) c.7784T>A (p.Met2595Lys) c.7781T>A (p.Met2594Lys) c.7727T>A (p.Met2576Lys) c.7697T>A (p.Met2566Lys) c.7652T>A (p.Met2551Lys) c.7247T>A (p.Met2416Lys) c.6605T>A (p.Met2202Lys) c.4115T>A (p.Met1372Lys) | |
10 | g.71803007T>C | CA377160733 | CDH23 | c.7592T>C (p.Met2531Thr) c.1525T>C (n.1525T>C) c.1189T>C (n.1189T>C) c.7607T>C (p.Met2536Thr) c.872T>C (p.Met291Thr) n.1128T>C c.7787T>C (p.Met2596Thr) c.7721T>C (p.Met2574Thr) c.7784T>C (p.Met2595Thr) c.7781T>C (p.Met2594Thr) c.7727T>C (p.Met2576Thr) c.7697T>C (p.Met2566Thr) c.7652T>C (p.Met2551Thr) c.7247T>C (p.Met2416Thr) c.6605T>C (p.Met2202Thr) c.4115T>C (p.Met1372Thr) | |
10 | g.71803007T>G | CA377160738 | CDH23 | c.7592T>G (p.Met2531Arg) c.1525T>G (n.1525T>G) c.1189T>G (n.1189T>G) c.7607T>G (p.Met2536Arg) c.872T>G (p.Met291Arg) n.1128T>G c.7787T>G (p.Met2596Arg) c.7721T>G (p.Met2574Arg) c.7784T>G (p.Met2595Arg) c.7781T>G (p.Met2594Arg) c.7727T>G (p.Met2576Arg) c.7697T>G (p.Met2566Arg) c.7652T>G (p.Met2551Arg) c.7247T>G (p.Met2416Arg) c.6605T>G (p.Met2202Arg) c.4115T>G (p.Met1372Arg) | |
10 | g.71803008G>A | CA377160741 | CDH23 | c.7593G>A (p.Met2531Ile) c.1526G>A (n.1526G>A) c.1190G>A (n.1190G>A) c.7608G>A (p.Met2536Ile) c.873G>A (p.Met291Ile) n.1129G>A c.7788G>A (p.Met2596Ile) c.7722G>A (p.Met2574Ile) c.7785G>A (p.Met2595Ile) c.7782G>A (p.Met2594Ile) c.7728G>A (p.Met2576Ile) c.7698G>A (p.Met2566Ile) c.7653G>A (p.Met2551Ile) c.7248G>A (p.Met2416Ile) c.6606G>A (p.Met2202Ile) c.4116G>A (p.Met1372Ile) | dbSNP gnomAD v4 |
10 | g.71803008G>C | CA377160743 | CDH23 | c.7593G>C (p.Met2531Ile) c.1526G>C (n.1526G>C) c.1190G>C (n.1190G>C) c.7608G>C (p.Met2536Ile) c.873G>C (p.Met291Ile) n.1129G>C c.7788G>C (p.Met2596Ile) c.7722G>C (p.Met2574Ile) c.7785G>C (p.Met2595Ile) c.7782G>C (p.Met2594Ile) c.7728G>C (p.Met2576Ile) c.7698G>C (p.Met2566Ile) c.7653G>C (p.Met2551Ile) c.7248G>C (p.Met2416Ile) c.6606G>C (p.Met2202Ile) c.4116G>C (p.Met1372Ile) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71803008G= | CA1918880431 | CDH23 | c.7593G= (p.Met2531=) c.1526G= (n.1526G=) c.1190G= (n.1190G=) c.7608G= (p.Met2536=) c.873G= (p.Met291=) n.1129G= c.7788G= (p.Met2596=) c.7722G= (p.Met2574=) c.7785G= (p.Met2595=) c.7782G= (p.Met2594=) c.7728G= (p.Met2576=) c.7698G= (p.Met2566=) c.7653G= (p.Met2551=) c.7248G= (p.Met2416=) c.6606G= (p.Met2202=) c.4116G= (p.Met1372=) | |
10 | g.71803008G>T | CA377160745 | CDH23 | c.7593G>T (p.Met2531Ile) c.1526G>T (n.1526G>T) c.1190G>T (n.1190G>T) c.7608G>T (p.Met2536Ile) c.873G>T (p.Met291Ile) n.1129G>T c.7788G>T (p.Met2596Ile) c.7722G>T (p.Met2574Ile) c.7785G>T (p.Met2595Ile) c.7782G>T (p.Met2594Ile) c.7728G>T (p.Met2576Ile) c.7698G>T (p.Met2566Ile) c.7653G>T (p.Met2551Ile) c.7248G>T (p.Met2416Ile) c.6606G>T (p.Met2202Ile) c.4116G>T (p.Met1372Ile) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71803009A>C | CA377160751 | CDH23 | c.7594A>C (p.Met2532Leu) c.1527A>C (n.1527A>C) c.1191A>C (n.1191A>C) c.7609A>C (p.Met2537Leu) c.874A>C (p.Met292Leu) n.1130A>C c.7789A>C (p.Met2597Leu) c.7723A>C (p.Met2575Leu) c.7786A>C (p.Met2596Leu) c.7783A>C (p.Met2595Leu) c.7729A>C (p.Met2577Leu) c.7699A>C (p.Met2567Leu) c.7654A>C (p.Met2552Leu) c.7249A>C (p.Met2417Leu) c.6607A>C (p.Met2203Leu) c.4117A>C (p.Met1373Leu) | |
10 | g.71803009A>G | CA377160747 | CDH23 | c.7594A>G (p.Met2532Val) c.1527A>G (n.1527A>G) c.1191A>G (n.1191A>G) c.7609A>G (p.Met2537Val) c.874A>G (p.Met292Val) n.1130A>G c.7789A>G (p.Met2597Val) c.7723A>G (p.Met2575Val) c.7786A>G (p.Met2596Val) c.7783A>G (p.Met2595Val) c.7729A>G (p.Met2577Val) c.7699A>G (p.Met2567Val) c.7654A>G (p.Met2552Val) c.7249A>G (p.Met2417Val) c.6607A>G (p.Met2203Val) c.4117A>G (p.Met1373Val) | |
10 | g.71803009A>T | CA377160749 | CDH23 | c.7594A>T (p.Met2532Leu) c.1527A>T (n.1527A>T) c.1191A>T (n.1191A>T) c.7609A>T (p.Met2537Leu) c.874A>T (p.Met292Leu) n.1130A>T c.7789A>T (p.Met2597Leu) c.7723A>T (p.Met2575Leu) c.7786A>T (p.Met2596Leu) c.7783A>T (p.Met2595Leu) c.7729A>T (p.Met2577Leu) c.7699A>T (p.Met2567Leu) c.7654A>T (p.Met2552Leu) c.7249A>T (p.Met2417Leu) c.6607A>T (p.Met2203Leu) c.4117A>T (p.Met1373Leu) | |
10 | g.71803010T>A | CA377160753 | CDH23 | c.7595T>A (p.Met2532Lys) c.1528T>A (n.1528T>A) c.1192T>A (n.1192T>A) c.7610T>A (p.Met2537Lys) c.875T>A (p.Met292Lys) n.1131T>A c.7790T>A (p.Met2597Lys) c.7724T>A (p.Met2575Lys) c.7787T>A (p.Met2596Lys) c.7784T>A (p.Met2595Lys) c.7730T>A (p.Met2577Lys) c.7700T>A (p.Met2567Lys) c.7655T>A (p.Met2552Lys) c.7250T>A (p.Met2417Lys) c.6608T>A (p.Met2203Lys) c.4118T>A (p.Met1373Lys) | |
10 | g.71803010T>C | CA377160755 | CDH23 | c.7595T>C (p.Met2532Thr) c.1528T>C (n.1528T>C) c.1192T>C (n.1192T>C) c.7610T>C (p.Met2537Thr) c.875T>C (p.Met292Thr) n.1131T>C c.7790T>C (p.Met2597Thr) c.7724T>C (p.Met2575Thr) c.7787T>C (p.Met2596Thr) c.7784T>C (p.Met2595Thr) c.7730T>C (p.Met2577Thr) c.7700T>C (p.Met2567Thr) c.7655T>C (p.Met2552Thr) c.7250T>C (p.Met2417Thr) c.6608T>C (p.Met2203Thr) c.4118T>C (p.Met1373Thr) | dbSNP |
10 | g.71803010T>G | CA377160757 | CDH23 | c.7595T>G (p.Met2532Arg) c.1528T>G (n.1528T>G) c.1192T>G (n.1192T>G) c.7610T>G (p.Met2537Arg) c.875T>G (p.Met292Arg) n.1131T>G c.7790T>G (p.Met2597Arg) c.7724T>G (p.Met2575Arg) c.7787T>G (p.Met2596Arg) c.7784T>G (p.Met2595Arg) c.7730T>G (p.Met2577Arg) c.7700T>G (p.Met2567Arg) c.7655T>G (p.Met2552Arg) c.7250T>G (p.Met2417Arg) c.6608T>G (p.Met2203Arg) c.4118T>G (p.Met1373Arg) | |
10 | g.71803010T= | CA1918880432 | CDH23 | c.7595T= (p.Met2532=) c.1528T= (n.1528T=) c.1192T= (n.1192T=) c.7610T= (p.Met2537=) c.875T= (p.Met292=) n.1131T= c.7790T= (p.Met2597=) c.7724T= (p.Met2575=) c.7787T= (p.Met2596=) c.7784T= (p.Met2595=) c.7730T= (p.Met2577=) c.7700T= (p.Met2567=) c.7655T= (p.Met2552=) c.7250T= (p.Met2417=) c.6608T= (p.Met2203=) c.4118T= (p.Met1373=) | |
10 | g.71803011G>A | CA377160759 | CDH23 | c.7596G>A (p.Met2532Ile) c.1529G>A (n.1529G>A) c.1193G>A (n.1193G>A) c.7611G>A (p.Met2537Ile) c.876G>A (p.Met292Ile) n.1132G>A c.7791G>A (p.Met2597Ile) c.7725G>A (p.Met2575Ile) c.7788G>A (p.Met2596Ile) c.7785G>A (p.Met2595Ile) c.7731G>A (p.Met2577Ile) c.7701G>A (p.Met2567Ile) c.7656G>A (p.Met2552Ile) c.7251G>A (p.Met2417Ile) c.6609G>A (p.Met2203Ile) c.4119G>A (p.Met1373Ile) | |
10 | g.71803011G>C | CA377160761 | CDH23 | c.7596G>C (p.Met2532Ile) c.1529G>C (n.1529G>C) c.1193G>C (n.1193G>C) c.7611G>C (p.Met2537Ile) c.876G>C (p.Met292Ile) n.1132G>C c.7791G>C (p.Met2597Ile) c.7725G>C (p.Met2575Ile) c.7788G>C (p.Met2596Ile) c.7785G>C (p.Met2595Ile) c.7731G>C (p.Met2577Ile) c.7701G>C (p.Met2567Ile) c.7656G>C (p.Met2552Ile) c.7251G>C (p.Met2417Ile) c.6609G>C (p.Met2203Ile) c.4119G>C (p.Met1373Ile) | |
10 | g.71803011G>T | CA377160771 | CDH23 | c.7596G>T (p.Met2532Ile) c.1529G>T (n.1529G>T) c.1193G>T (n.1193G>T) c.7611G>T (p.Met2537Ile) c.876G>T (p.Met292Ile) n.1132G>T c.7791G>T (p.Met2597Ile) c.7725G>T (p.Met2575Ile) c.7788G>T (p.Met2596Ile) c.7785G>T (p.Met2595Ile) c.7731G>T (p.Met2577Ile) c.7701G>T (p.Met2567Ile) c.7656G>T (p.Met2552Ile) c.7251G>T (p.Met2417Ile) c.6609G>T (p.Met2203Ile) c.4119G>T (p.Met1373Ile) | COSMIC |
10 | g.71803012G>A | CA377160777 | CDH23 | c.7597G>A (p.Ala2533Thr) c.1530G>A (n.1530G>A) c.1194G>A (n.1194G>A) c.7612G>A (p.Ala2538Thr) c.877G>A (p.Ala293Thr) n.1133G>A c.7792G>A (p.Ala2598Thr) c.7726G>A (p.Ala2576Thr) c.7789G>A (p.Ala2597Thr) c.7786G>A (p.Ala2596Thr) c.7732G>A (p.Ala2578Thr) c.7702G>A (p.Ala2568Thr) c.7657G>A (p.Ala2553Thr) c.7252G>A (p.Ala2418Thr) c.6610G>A (p.Ala2204Thr) c.4120G>A (p.Ala1374Thr) | dbSNP |
10 | g.71803012G>C | CA377160775 | CDH23 | c.7597G>C (p.Ala2533Pro) c.1530G>C (n.1530G>C) c.1194G>C (n.1194G>C) c.7612G>C (p.Ala2538Pro) c.877G>C (p.Ala293Pro) n.1133G>C c.7792G>C (p.Ala2598Pro) c.7726G>C (p.Ala2576Pro) c.7789G>C (p.Ala2597Pro) c.7786G>C (p.Ala2596Pro) c.7732G>C (p.Ala2578Pro) c.7702G>C (p.Ala2568Pro) c.7657G>C (p.Ala2553Pro) c.7252G>C (p.Ala2418Pro) c.6610G>C (p.Ala2204Pro) c.4120G>C (p.Ala1374Pro) | |
10 | g.71803012G= | CA1918880433 | CDH23 | c.7597G= (p.Ala2533=) c.1530G= (n.1530G=) c.1194G= (n.1194G=) c.7612G= (p.Ala2538=) c.877G= (p.Ala293=) n.1133G= c.7792G= (p.Ala2598=) c.7726G= (p.Ala2576=) c.7789G= (p.Ala2597=) c.7786G= (p.Ala2596=) c.7732G= (p.Ala2578=) c.7702G= (p.Ala2568=) c.7657G= (p.Ala2553=) c.7252G= (p.Ala2418=) c.6610G= (p.Ala2204=) c.4120G= (p.Ala1374=) | |
10 | g.71803012G>T | CA377160773 | CDH23 | c.7597G>T (p.Ala2533Ser) c.1530G>T (n.1530G>T) c.1194G>T (n.1194G>T) c.7612G>T (p.Ala2538Ser) c.877G>T (p.Ala293Ser) n.1133G>T c.7792G>T (p.Ala2598Ser) c.7726G>T (p.Ala2576Ser) c.7789G>T (p.Ala2597Ser) c.7786G>T (p.Ala2596Ser) c.7732G>T (p.Ala2578Ser) c.7702G>T (p.Ala2568Ser) c.7657G>T (p.Ala2553Ser) c.7252G>T (p.Ala2418Ser) c.6610G>T (p.Ala2204Ser) c.4120G>T (p.Ala1374Ser) | gnomAD v4 |
10 | g.71803013C>A | CA377160782 | CDH23 | c.7598C>A (p.Ala2533Asp) c.1531C>A (n.1531C>A) c.1195C>A (n.1195C>A) c.7613C>A (p.Ala2538Asp) c.878C>A (p.Ala293Asp) n.1134C>A c.7793C>A (p.Ala2598Asp) c.7727C>A (p.Ala2576Asp) c.7790C>A (p.Ala2597Asp) c.7787C>A (p.Ala2596Asp) c.7733C>A (p.Ala2578Asp) c.7703C>A (p.Ala2568Asp) c.7658C>A (p.Ala2553Asp) c.7253C>A (p.Ala2418Asp) c.6611C>A (p.Ala2204Asp) c.4121C>A (p.Ala1374Asp) | |
10 | g.71803013C>G | CA377160784 | CDH23 | c.7598C>G (p.Ala2533Gly) c.1531C>G (n.1531C>G) c.1195C>G (n.1195C>G) c.7613C>G (p.Ala2538Gly) c.878C>G (p.Ala293Gly) n.1134C>G c.7793C>G (p.Ala2598Gly) c.7727C>G (p.Ala2576Gly) c.7790C>G (p.Ala2597Gly) c.7787C>G (p.Ala2596Gly) c.7733C>G (p.Ala2578Gly) c.7703C>G (p.Ala2568Gly) c.7658C>G (p.Ala2553Gly) c.7253C>G (p.Ala2418Gly) c.6611C>G (p.Ala2204Gly) c.4121C>G (p.Ala1374Gly) | |
10 | g.71803013C>T | CA377160786 | CDH23 | c.7598C>T (p.Ala2533Val) c.1531C>T (n.1531C>T) c.1195C>T (n.1195C>T) c.7613C>T (p.Ala2538Val) c.878C>T (p.Ala293Val) n.1134C>T c.7793C>T (p.Ala2598Val) c.7727C>T (p.Ala2576Val) c.7790C>T (p.Ala2597Val) c.7787C>T (p.Ala2596Val) c.7733C>T (p.Ala2578Val) c.7703C>T (p.Ala2568Val) c.7658C>T (p.Ala2553Val) c.7253C>T (p.Ala2418Val) c.6611C>T (p.Ala2204Val) c.4121C>T (p.Ala1374Val) | |
10 | g.71803014C>A | CA470062503 | CDH23 | c.7599C>A (p.Ala2533=) c.1532C>A (n.1532C>A) c.1196C>A (n.1196C>A) c.7614C>A (p.Ala2538=) c.879C>A (p.Ala293=) n.1135C>A c.7794C>A (p.Ala2598=) c.7728C>A (p.Ala2576=) c.7791C>A (p.Ala2597=) c.7788C>A (p.Ala2596=) c.7734C>A (p.Ala2578=) c.7704C>A (p.Ala2568=) c.7659C>A (p.Ala2553=) c.7254C>A (p.Ala2418=) c.6612C>A (p.Ala2204=) c.4122C>A (p.Ala1374=) | |
10 | g.71803014C= | CA1918880434 | CDH23 | c.7599C= (p.Ala2533=) c.1532C= (n.1532C=) c.1196C= (n.1196C=) c.7614C= (p.Ala2538=) c.879C= (p.Ala293=) n.1135C= c.7794C= (p.Ala2598=) c.7728C= (p.Ala2576=) c.7791C= (p.Ala2597=) c.7788C= (p.Ala2596=) c.7734C= (p.Ala2578=) c.7704C= (p.Ala2568=) c.7659C= (p.Ala2553=) c.7254C= (p.Ala2418=) c.6612C= (p.Ala2204=) c.4122C= (p.Ala1374=) | |
10 | g.71803014C>G | CA470062504 | CDH23 | c.7599C>G (p.Ala2533=) c.1532C>G (n.1532C>G) c.1196C>G (n.1196C>G) c.7614C>G (p.Ala2538=) c.879C>G (p.Ala293=) n.1135C>G c.7794C>G (p.Ala2598=) c.7728C>G (p.Ala2576=) c.7791C>G (p.Ala2597=) c.7788C>G (p.Ala2596=) c.7734C>G (p.Ala2578=) c.7704C>G (p.Ala2568=) c.7659C>G (p.Ala2553=) c.7254C>G (p.Ala2418=) c.6612C>G (p.Ala2204=) c.4122C>G (p.Ala1374=) | ClinVar dbSNP gnomAD v4 |
10 | g.71803014C>T | CA470062505 | CDH23 | c.7599C>T (p.Ala2533=) c.1532C>T (n.1532C>T) c.1196C>T (n.1196C>T) c.7614C>T (p.Ala2538=) c.879C>T (p.Ala293=) n.1135C>T c.7794C>T (p.Ala2598=) c.7728C>T (p.Ala2576=) c.7791C>T (p.Ala2597=) c.7788C>T (p.Ala2596=) c.7734C>T (p.Ala2578=) c.7704C>T (p.Ala2568=) c.7659C>T (p.Ala2553=) c.7254C>T (p.Ala2418=) c.6612C>T (p.Ala2204=) c.4122C>T (p.Ala1374=) | gnomAD v4 |
10 | g.71803015A>C | CA377160792 | CDH23 | c.7600A>C (p.Thr2534Pro) c.1533A>C (n.1533A>C) c.1197A>C (n.1197A>C) c.7615A>C (p.Thr2539Pro) c.880A>C (p.Thr294Pro) n.1136A>C c.7795A>C (p.Thr2599Pro) c.7729A>C (p.Thr2577Pro) c.7792A>C (p.Thr2598Pro) c.7789A>C (p.Thr2597Pro) c.7735A>C (p.Thr2579Pro) c.7705A>C (p.Thr2569Pro) c.7660A>C (p.Thr2554Pro) c.7255A>C (p.Thr2419Pro) c.6613A>C (p.Thr2205Pro) c.4123A>C (p.Thr1375Pro) | |
10 | g.71803015A>G | CA377160795 | CDH23 | c.7600A>G (p.Thr2534Ala) c.1533A>G (n.1533A>G) c.1197A>G (n.1197A>G) c.7615A>G (p.Thr2539Ala) c.880A>G (p.Thr294Ala) n.1136A>G c.7795A>G (p.Thr2599Ala) c.7729A>G (p.Thr2577Ala) c.7792A>G (p.Thr2598Ala) c.7789A>G (p.Thr2597Ala) c.7735A>G (p.Thr2579Ala) c.7705A>G (p.Thr2569Ala) c.7660A>G (p.Thr2554Ala) c.7255A>G (p.Thr2419Ala) c.6613A>G (p.Thr2205Ala) c.4123A>G (p.Thr1375Ala) | |
10 | g.71803015A>T | CA377160797 | CDH23 | c.7600A>T (p.Thr2534Ser) c.1533A>T (n.1533A>T) c.1197A>T (n.1197A>T) c.7615A>T (p.Thr2539Ser) c.880A>T (p.Thr294Ser) n.1136A>T c.7795A>T (p.Thr2599Ser) c.7729A>T (p.Thr2577Ser) c.7792A>T (p.Thr2598Ser) c.7789A>T (p.Thr2597Ser) c.7735A>T (p.Thr2579Ser) c.7705A>T (p.Thr2569Ser) c.7660A>T (p.Thr2554Ser) c.7255A>T (p.Thr2419Ser) c.6613A>T (p.Thr2205Ser) c.4123A>T (p.Thr1375Ser) | COSMIC |
10 | g.71803016C>A | CA377160799 | CDH23 | c.7601C>A (p.Thr2534Asn) c.1534C>A (n.1534C>A) c.1198C>A (n.1198C>A) c.7616C>A (p.Thr2539Asn) c.881C>A (p.Thr294Asn) n.1137C>A c.7796C>A (p.Thr2599Asn) c.7730C>A (p.Thr2577Asn) c.7793C>A (p.Thr2598Asn) c.7790C>A (p.Thr2597Asn) c.7736C>A (p.Thr2579Asn) c.7706C>A (p.Thr2569Asn) c.7661C>A (p.Thr2554Asn) c.7256C>A (p.Thr2419Asn) c.6614C>A (p.Thr2205Asn) c.4124C>A (p.Thr1375Asn) | |
10 | g.71803016C>G | CA377160803 | CDH23 | c.7601C>G (p.Thr2534Ser) c.1534C>G (n.1534C>G) c.1198C>G (n.1198C>G) c.7616C>G (p.Thr2539Ser) c.881C>G (p.Thr294Ser) n.1137C>G c.7796C>G (p.Thr2599Ser) c.7730C>G (p.Thr2577Ser) c.7793C>G (p.Thr2598Ser) c.7790C>G (p.Thr2597Ser) c.7736C>G (p.Thr2579Ser) c.7706C>G (p.Thr2569Ser) c.7661C>G (p.Thr2554Ser) c.7256C>G (p.Thr2419Ser) c.6614C>G (p.Thr2205Ser) c.4124C>G (p.Thr1375Ser) | |
10 | g.71803016C>T | CA377160801 | CDH23 | c.7601C>T (p.Thr2534Ile) c.1534C>T (n.1534C>T) c.1198C>T (n.1198C>T) c.7616C>T (p.Thr2539Ile) c.881C>T (p.Thr294Ile) n.1137C>T c.7796C>T (p.Thr2599Ile) c.7730C>T (p.Thr2577Ile) c.7793C>T (p.Thr2598Ile) c.7790C>T (p.Thr2597Ile) c.7736C>T (p.Thr2579Ile) c.7706C>T (p.Thr2569Ile) c.7661C>T (p.Thr2554Ile) c.7256C>T (p.Thr2419Ile) c.6614C>T (p.Thr2205Ile) c.4124C>T (p.Thr1375Ile) | |
10 | g.71803017T>A | CA470062506 | CDH23 | c.7602T>A (p.Thr2534=) c.1535T>A (n.1535T>A) c.1199T>A (n.1199T>A) c.7617T>A (p.Thr2539=) c.882T>A (p.Thr294=) n.1138T>A c.7797T>A (p.Thr2599=) c.7731T>A (p.Thr2577=) c.7794T>A (p.Thr2598=) c.7791T>A (p.Thr2597=) c.7737T>A (p.Thr2579=) c.7707T>A (p.Thr2569=) c.7662T>A (p.Thr2554=) c.7257T>A (p.Thr2419=) c.6615T>A (p.Thr2205=) c.4125T>A (p.Thr1375=) | |
10 | g.71803017T>C | CA470062507 | CDH23 | c.7602T>C (p.Thr2534=) c.1535T>C (n.1535T>C) c.1199T>C (n.1199T>C) c.7617T>C (p.Thr2539=) c.882T>C (p.Thr294=) n.1138T>C c.7797T>C (p.Thr2599=) c.7731T>C (p.Thr2577=) c.7794T>C (p.Thr2598=) c.7791T>C (p.Thr2597=) c.7737T>C (p.Thr2579=) c.7707T>C (p.Thr2569=) c.7662T>C (p.Thr2554=) c.7257T>C (p.Thr2419=) c.6615T>C (p.Thr2205=) c.4125T>C (p.Thr1375=) | ClinVar dbSNP |
10 | g.71803017T>G | CA470062508 | CDH23 | c.7602T>G (p.Thr2534=) c.1535T>G (n.1535T>G) c.1199T>G (n.1199T>G) c.7617T>G (p.Thr2539=) c.882T>G (p.Thr294=) n.1138T>G c.7797T>G (p.Thr2599=) c.7731T>G (p.Thr2577=) c.7794T>G (p.Thr2598=) c.7791T>G (p.Thr2597=) c.7737T>G (p.Thr2579=) c.7707T>G (p.Thr2569=) c.7662T>G (p.Thr2554=) c.7257T>G (p.Thr2419=) c.6615T>G (p.Thr2205=) c.4125T>G (p.Thr1375=) | |
10 | g.71803018G>A | CA377160805 | CDH23 | c.7603G>A (p.Asp2535Asn) c.1536G>A (n.1536G>A) c.1200G>A (n.1200G>A) c.7618G>A (p.Asp2540Asn) c.883G>A (p.Asp295Asn) n.1139G>A c.7798G>A (p.Asp2600Asn) c.7732G>A (p.Asp2578Asn) c.7795G>A (p.Asp2599Asn) c.7792G>A (p.Asp2598Asn) c.7738G>A (p.Asp2580Asn) c.7708G>A (p.Asp2570Asn) c.7663G>A (p.Asp2555Asn) c.7258G>A (p.Asp2420Asn) c.6616G>A (p.Asp2206Asn) c.4126G>A (p.Asp1376Asn) | |
10 | g.71803018G>C | CA377160807 | CDH23 | c.7603G>C (p.Asp2535His) c.1536G>C (n.1536G>C) c.1200G>C (n.1200G>C) c.7618G>C (p.Asp2540His) c.883G>C (p.Asp295His) n.1139G>C c.7798G>C (p.Asp2600His) c.7732G>C (p.Asp2578His) c.7795G>C (p.Asp2599His) c.7792G>C (p.Asp2598His) c.7738G>C (p.Asp2580His) c.7708G>C (p.Asp2570His) c.7663G>C (p.Asp2555His) c.7258G>C (p.Asp2420His) c.6616G>C (p.Asp2206His) c.4126G>C (p.Asp1376His) | |
10 | g.71803018G>T | CA377160810 | CDH23 | c.7603G>T (p.Asp2535Tyr) c.1536G>T (n.1536G>T) c.1200G>T (n.1200G>T) c.7618G>T (p.Asp2540Tyr) c.883G>T (p.Asp295Tyr) n.1139G>T c.7798G>T (p.Asp2600Tyr) c.7732G>T (p.Asp2578Tyr) c.7795G>T (p.Asp2599Tyr) c.7792G>T (p.Asp2598Tyr) c.7738G>T (p.Asp2580Tyr) c.7708G>T (p.Asp2570Tyr) c.7663G>T (p.Asp2555Tyr) c.7258G>T (p.Asp2420Tyr) c.6616G>T (p.Asp2206Tyr) c.4126G>T (p.Asp1376Tyr) | |
10 | g.71803019A>C | CA377160812 | CDH23 | c.7604A>C (p.Asp2535Ala) c.1537A>C (n.1537A>C) c.1201A>C (n.1201A>C) c.7619A>C (p.Asp2540Ala) c.884A>C (p.Asp295Ala) n.1140A>C c.7799A>C (p.Asp2600Ala) c.7733A>C (p.Asp2578Ala) c.7796A>C (p.Asp2599Ala) c.7793A>C (p.Asp2598Ala) c.7739A>C (p.Asp2580Ala) c.7709A>C (p.Asp2570Ala) c.7664A>C (p.Asp2555Ala) c.7259A>C (p.Asp2420Ala) c.6617A>C (p.Asp2206Ala) c.4127A>C (p.Asp1376Ala) | |
10 | g.71803019A>G | CA377160814 | CDH23 | c.7604A>G (p.Asp2535Gly) c.1537A>G (n.1537A>G) c.1201A>G (n.1201A>G) c.7619A>G (p.Asp2540Gly) c.884A>G (p.Asp295Gly) n.1140A>G c.7799A>G (p.Asp2600Gly) c.7733A>G (p.Asp2578Gly) c.7796A>G (p.Asp2599Gly) c.7793A>G (p.Asp2598Gly) c.7739A>G (p.Asp2580Gly) c.7709A>G (p.Asp2570Gly) c.7664A>G (p.Asp2555Gly) c.7259A>G (p.Asp2420Gly) c.6617A>G (p.Asp2206Gly) c.4127A>G (p.Asp1376Gly) | |
10 | g.71803019A>T | CA377160816 | CDH23 | c.7604A>T (p.Asp2535Val) c.1537A>T (n.1537A>T) c.1201A>T (n.1201A>T) c.7619A>T (p.Asp2540Val) c.884A>T (p.Asp295Val) n.1140A>T c.7799A>T (p.Asp2600Val) c.7733A>T (p.Asp2578Val) c.7796A>T (p.Asp2599Val) c.7793A>T (p.Asp2598Val) c.7739A>T (p.Asp2580Val) c.7709A>T (p.Asp2570Val) c.7664A>T (p.Asp2555Val) c.7259A>T (p.Asp2420Val) c.6617A>T (p.Asp2206Val) c.4127A>T (p.Asp1376Val) | |
10 | g.71803020C>A | CA377160818 | CDH23 | c.7605C>A (p.Asp2535Glu) c.1538C>A (n.1538C>A) c.1202C>A (n.1202C>A) c.7620C>A (p.Asp2540Glu) c.885C>A (p.Asp295Glu) n.1141C>A c.7800C>A (p.Asp2600Glu) c.7734C>A (p.Asp2578Glu) c.7797C>A (p.Asp2599Glu) c.7794C>A (p.Asp2598Glu) c.7740C>A (p.Asp2580Glu) c.7710C>A (p.Asp2570Glu) c.7665C>A (p.Asp2555Glu) c.7260C>A (p.Asp2420Glu) c.6618C>A (p.Asp2206Glu) c.4128C>A (p.Asp1376Glu) | |
10 | g.71803020C= | CA1918880435 | CDH23 | c.7605C= (p.Asp2535=) c.1538C= (n.1538C=) c.1202C= (n.1202C=) c.7620C= (p.Asp2540=) c.885C= (p.Asp295=) n.1141C= c.7800C= (p.Asp2600=) c.7734C= (p.Asp2578=) c.7797C= (p.Asp2599=) c.7794C= (p.Asp2598=) c.7740C= (p.Asp2580=) c.7710C= (p.Asp2570=) c.7665C= (p.Asp2555=) c.7260C= (p.Asp2420=) c.6618C= (p.Asp2206=) c.4128C= (p.Asp1376=) | |
10 | g.71803020C>G | CA377160819 | CDH23 | c.7605C>G (p.Asp2535Glu) c.1538C>G (n.1538C>G) c.1202C>G (n.1202C>G) c.7620C>G (p.Asp2540Glu) c.885C>G (p.Asp295Glu) n.1141C>G c.7800C>G (p.Asp2600Glu) c.7734C>G (p.Asp2578Glu) c.7797C>G (p.Asp2599Glu) c.7794C>G (p.Asp2598Glu) c.7740C>G (p.Asp2580Glu) c.7710C>G (p.Asp2570Glu) c.7665C>G (p.Asp2555Glu) c.7260C>G (p.Asp2420Glu) c.6618C>G (p.Asp2206Glu) c.4128C>G (p.Asp1376Glu) | |
10 | g.71803020C>T | CA470062509 | CDH23 | c.7605C>T (p.Asp2535=) c.1538C>T (n.1538C>T) c.1202C>T (n.1202C>T) c.7620C>T (p.Asp2540=) c.885C>T (p.Asp295=) n.1141C>T c.7800C>T (p.Asp2600=) c.7734C>T (p.Asp2578=) c.7797C>T (p.Asp2599=) c.7794C>T (p.Asp2598=) c.7740C>T (p.Asp2580=) c.7710C>T (p.Asp2570=) c.7665C>T (p.Asp2555=) c.7260C>T (p.Asp2420=) c.6618C>T (p.Asp2206=) c.4128C>T (p.Asp1376=) | ClinVar dbSNP gnomAD v4 |
10 | g.71803021C>A | CA377160821 | CDH23 | c.7606C>A (p.Gln2536Lys) c.1539C>A (n.1539C>A) c.1203C>A (n.1203C>A) c.7621C>A (p.Gln2541Lys) c.886C>A (p.Gln296Lys) n.1142C>A c.7801C>A (p.Gln2601Lys) c.7735C>A (p.Gln2579Lys) c.7798C>A (p.Gln2600Lys) c.7795C>A (p.Gln2599Lys) c.7741C>A (p.Gln2581Lys) c.7711C>A (p.Gln2571Lys) c.7666C>A (p.Gln2556Lys) c.7261C>A (p.Gln2421Lys) c.6619C>A (p.Gln2207Lys) c.4129C>A (p.Gln1377Lys) | |
10 | g.71803021C= | CA1918880436 | CDH23 | c.7606C= (p.Gln2536=) c.1539C= (n.1539C=) c.1203C= (n.1203C=) c.7621C= (p.Gln2541=) c.886C= (p.Gln296=) n.1142C= c.7801C= (p.Gln2601=) c.7735C= (p.Gln2579=) c.7798C= (p.Gln2600=) c.7795C= (p.Gln2599=) c.7741C= (p.Gln2581=) c.7711C= (p.Gln2571=) c.7666C= (p.Gln2556=) c.7261C= (p.Gln2421=) c.6619C= (p.Gln2207=) c.4129C= (p.Gln1377=) | |
10 | g.71803021C>G | CA377160823 | CDH23 | c.7606C>G (p.Gln2536Glu) c.1539C>G (n.1539C>G) c.1203C>G (n.1203C>G) c.7621C>G (p.Gln2541Glu) c.886C>G (p.Gln296Glu) n.1142C>G c.7801C>G (p.Gln2601Glu) c.7735C>G (p.Gln2579Glu) c.7798C>G (p.Gln2600Glu) c.7795C>G (p.Gln2599Glu) c.7741C>G (p.Gln2581Glu) c.7711C>G (p.Gln2571Glu) c.7666C>G (p.Gln2556Glu) c.7261C>G (p.Gln2421Glu) c.6619C>G (p.Gln2207Glu) c.4129C>G (p.Gln1377Glu) | |
10 | g.71803021C>T | CA377160825 | CDH23 | c.7606C>T (p.Gln2536Ter) c.1539C>T (n.1539C>T) c.1203C>T (n.1203C>T) c.7621C>T (p.Gln2541Ter) c.886C>T (p.Gln296Ter) n.1142C>T c.7801C>T (p.Gln2601Ter) c.7735C>T (p.Gln2579Ter) c.7798C>T (p.Gln2600Ter) c.7795C>T (p.Gln2599Ter) c.7741C>T (p.Gln2581Ter) c.7711C>T (p.Gln2571Ter) c.7666C>T (p.Gln2556Ter) c.7261C>T (p.Gln2421Ter) c.6619C>T (p.Gln2207Ter) c.4129C>T (p.Gln1377Ter) | dbSNP |
10 | g.71803022A>C | CA377160828 | CDH23 | c.7607A>C (p.Gln2536Pro) c.1540A>C (n.1540A>C) c.1204A>C (n.1204A>C) c.7622A>C (p.Gln2541Pro) c.887A>C (p.Gln296Pro) n.1143A>C c.7802A>C (p.Gln2601Pro) c.7736A>C (p.Gln2579Pro) c.7799A>C (p.Gln2600Pro) c.7796A>C (p.Gln2599Pro) c.7742A>C (p.Gln2581Pro) c.7712A>C (p.Gln2571Pro) c.7667A>C (p.Gln2556Pro) c.7262A>C (p.Gln2421Pro) c.6620A>C (p.Gln2207Pro) c.4130A>C (p.Gln1377Pro) | |
10 | g.71803022A>G | CA377160833 | CDH23 | c.7607A>G (p.Gln2536Arg) c.1540A>G (n.1540A>G) c.1204A>G (n.1204A>G) c.7622A>G (p.Gln2541Arg) c.887A>G (p.Gln296Arg) n.1143A>G c.7802A>G (p.Gln2601Arg) c.7736A>G (p.Gln2579Arg) c.7799A>G (p.Gln2600Arg) c.7796A>G (p.Gln2599Arg) c.7742A>G (p.Gln2581Arg) c.7712A>G (p.Gln2571Arg) c.7667A>G (p.Gln2556Arg) c.7262A>G (p.Gln2421Arg) c.6620A>G (p.Gln2207Arg) c.4130A>G (p.Gln1377Arg) | |
10 | g.71803022A>T | CA377160829 | CDH23 | c.7607A>T (p.Gln2536Leu) c.1540A>T (n.1540A>T) c.1204A>T (n.1204A>T) c.7622A>T (p.Gln2541Leu) c.887A>T (p.Gln296Leu) n.1143A>T c.7802A>T (p.Gln2601Leu) c.7736A>T (p.Gln2579Leu) c.7799A>T (p.Gln2600Leu) c.7796A>T (p.Gln2599Leu) c.7742A>T (p.Gln2581Leu) c.7712A>T (p.Gln2571Leu) c.7667A>T (p.Gln2556Leu) c.7262A>T (p.Gln2421Leu) c.6620A>T (p.Gln2207Leu) c.4130A>T (p.Gln1377Leu) | |
10 | g.71803023G>A | CA470062510 | CDH23 | c.7608G>A (p.Gln2536=) c.1541G>A (n.1541G>A) c.1205G>A (n.1205G>A) c.7623G>A (p.Gln2541=) c.888G>A (p.Gln296=) n.1144G>A c.7803G>A (p.Gln2601=) c.7737G>A (p.Gln2579=) c.7800G>A (p.Gln2600=) c.7797G>A (p.Gln2599=) c.7743G>A (p.Gln2581=) c.7713G>A (p.Gln2571=) c.7668G>A (p.Gln2556=) c.7263G>A (p.Gln2421=) c.6621G>A (p.Gln2207=) c.4131G>A (p.Gln1377=) | |
10 | g.71803023G>C | CA377160835 | CDH23 | c.7608G>C (p.Gln2536His) c.1541G>C (n.1541G>C) c.1205G>C (n.1205G>C) c.7623G>C (p.Gln2541His) c.888G>C (p.Gln296His) n.1144G>C c.7803G>C (p.Gln2601His) c.7737G>C (p.Gln2579His) c.7800G>C (p.Gln2600His) c.7797G>C (p.Gln2599His) c.7743G>C (p.Gln2581His) c.7713G>C (p.Gln2571His) c.7668G>C (p.Gln2556His) c.7263G>C (p.Gln2421His) c.6621G>C (p.Gln2207His) c.4131G>C (p.Gln1377His) | |
10 | g.71803023G>T | CA377160836 | CDH23 | c.7608G>T (p.Gln2536His) c.1541G>T (n.1541G>T) c.1205G>T (n.1205G>T) c.7623G>T (p.Gln2541His) c.888G>T (p.Gln296His) n.1144G>T c.7803G>T (p.Gln2601His) c.7737G>T (p.Gln2579His) c.7800G>T (p.Gln2600His) c.7797G>T (p.Gln2599His) c.7743G>T (p.Gln2581His) c.7713G>T (p.Gln2571His) c.7668G>T (p.Gln2556His) c.7263G>T (p.Gln2421His) c.6621G>T (p.Gln2207His) c.4131G>T (p.Gln1377His) | |
10 | g.71803024G>A | CA377160838 | CDH23 | c.7609G>A (p.Asp2537Asn) c.1542G>A (n.1542G>A) c.1206G>A (n.1206G>A) c.7624G>A (p.Asp2542Asn) c.889G>A (p.Asp297Asn) n.1145G>A c.7804G>A (p.Asp2602Asn) c.7738G>A (p.Asp2580Asn) c.7801G>A (p.Asp2601Asn) c.7798G>A (p.Asp2600Asn) c.7744G>A (p.Asp2582Asn) c.7714G>A (p.Asp2572Asn) c.7669G>A (p.Asp2557Asn) c.7264G>A (p.Asp2422Asn) c.6622G>A (p.Asp2208Asn) c.4132G>A (p.Asp1378Asn) | COSMIC |
10 | g.71803024G>C | CA377160839 | CDH23 | c.7609G>C (p.Asp2537His) c.1542G>C (n.1542G>C) c.1206G>C (n.1206G>C) c.7624G>C (p.Asp2542His) c.889G>C (p.Asp297His) n.1145G>C c.7804G>C (p.Asp2602His) c.7738G>C (p.Asp2580His) c.7801G>C (p.Asp2601His) c.7798G>C (p.Asp2600His) c.7744G>C (p.Asp2582His) c.7714G>C (p.Asp2572His) c.7669G>C (p.Asp2557His) c.7264G>C (p.Asp2422His) c.6622G>C (p.Asp2208His) c.4132G>C (p.Asp1378His) | |
10 | g.71803024G>T | CA377160840 | CDH23 | c.7609G>T (p.Asp2537Tyr) c.1542G>T (n.1542G>T) c.1206G>T (n.1206G>T) c.7624G>T (p.Asp2542Tyr) c.889G>T (p.Asp297Tyr) n.1145G>T c.7804G>T (p.Asp2602Tyr) c.7738G>T (p.Asp2580Tyr) c.7801G>T (p.Asp2601Tyr) c.7798G>T (p.Asp2600Tyr) c.7744G>T (p.Asp2582Tyr) c.7714G>T (p.Asp2572Tyr) c.7669G>T (p.Asp2557Tyr) c.7264G>T (p.Asp2422Tyr) c.6622G>T (p.Asp2208Tyr) c.4132G>T (p.Asp1378Tyr) | |
10 | g.71803025A>C | CA377160841 | CDH23 | c.7610A>C (p.Asp2537Ala) c.1543A>C (n.1543A>C) c.1207A>C (n.1207A>C) c.7625A>C (p.Asp2542Ala) c.890A>C (p.Asp297Ala) n.1146A>C c.7805A>C (p.Asp2602Ala) c.7739A>C (p.Asp2580Ala) c.7802A>C (p.Asp2601Ala) c.7799A>C (p.Asp2600Ala) c.7745A>C (p.Asp2582Ala) c.7715A>C (p.Asp2572Ala) c.7670A>C (p.Asp2557Ala) c.7265A>C (p.Asp2422Ala) c.6623A>C (p.Asp2208Ala) c.4133A>C (p.Asp1378Ala) | |
10 | g.71803025A>G | CA377160842 | CDH23 | c.7610A>G (p.Asp2537Gly) c.1543A>G (n.1543A>G) c.1207A>G (n.1207A>G) c.7625A>G (p.Asp2542Gly) c.890A>G (p.Asp297Gly) n.1146A>G c.7805A>G (p.Asp2602Gly) c.7739A>G (p.Asp2580Gly) c.7802A>G (p.Asp2601Gly) c.7799A>G (p.Asp2600Gly) c.7745A>G (p.Asp2582Gly) c.7715A>G (p.Asp2572Gly) c.7670A>G (p.Asp2557Gly) c.7265A>G (p.Asp2422Gly) c.6623A>G (p.Asp2208Gly) c.4133A>G (p.Asp1378Gly) | |
10 | g.71803025A>T | CA377160843 | CDH23 | c.7610A>T (p.Asp2537Val) c.1543A>T (n.1543A>T) c.1207A>T (n.1207A>T) c.7625A>T (p.Asp2542Val) c.890A>T (p.Asp297Val) n.1146A>T c.7805A>T (p.Asp2602Val) c.7739A>T (p.Asp2580Val) c.7802A>T (p.Asp2601Val) c.7799A>T (p.Asp2600Val) c.7745A>T (p.Asp2582Val) c.7715A>T (p.Asp2572Val) c.7670A>T (p.Asp2557Val) c.7265A>T (p.Asp2422Val) c.6623A>T (p.Asp2208Val) c.4133A>T (p.Asp1378Val) | |
10 | g.71803026T>A | CA377160845 | CDH23 | c.7611T>A (p.Asp2537Glu) c.1544T>A (n.1544T>A) c.1208T>A (n.1208T>A) c.7626T>A (p.Asp2542Glu) c.891T>A (p.Asp297Glu) n.1147T>A c.7806T>A (p.Asp2602Glu) c.7740T>A (p.Asp2580Glu) c.7803T>A (p.Asp2601Glu) c.7800T>A (p.Asp2600Glu) c.7746T>A (p.Asp2582Glu) c.7716T>A (p.Asp2572Glu) c.7671T>A (p.Asp2557Glu) c.7266T>A (p.Asp2422Glu) c.6624T>A (p.Asp2208Glu) c.4134T>A (p.Asp1378Glu) | |
10 | g.71803026T>C | CA470062511 | CDH23 | c.7611T>C (p.Asp2537=) c.1544T>C (n.1544T>C) c.1208T>C (n.1208T>C) c.7626T>C (p.Asp2542=) c.891T>C (p.Asp297=) n.1147T>C c.7806T>C (p.Asp2602=) c.7740T>C (p.Asp2580=) c.7803T>C (p.Asp2601=) c.7800T>C (p.Asp2600=) c.7746T>C (p.Asp2582=) c.7716T>C (p.Asp2572=) c.7671T>C (p.Asp2557=) c.7266T>C (p.Asp2422=) c.6624T>C (p.Asp2208=) c.4134T>C (p.Asp1378=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71803026T>G | CA377160847 | CDH23 | c.7611T>G (p.Asp2537Glu) c.1544T>G (n.1544T>G) c.1208T>G (n.1208T>G) c.7626T>G (p.Asp2542Glu) c.891T>G (p.Asp297Glu) n.1147T>G c.7806T>G (p.Asp2602Glu) c.7740T>G (p.Asp2580Glu) c.7803T>G (p.Asp2601Glu) c.7800T>G (p.Asp2600Glu) c.7746T>G (p.Asp2582Glu) c.7716T>G (p.Asp2572Glu) c.7671T>G (p.Asp2557Glu) c.7266T>G (p.Asp2422Glu) c.6624T>G (p.Asp2208Glu) c.4134T>G (p.Asp1378Glu) | gnomAD v4 |
10 | g.71803026T= | CA1918880437 | CDH23 | c.7611T= (p.Asp2537=) c.1544T= (n.1544T=) c.1208T= (n.1208T=) c.7626T= (p.Asp2542=) c.891T= (p.Asp297=) n.1147T= c.7806T= (p.Asp2602=) c.7740T= (p.Asp2580=) c.7803T= (p.Asp2601=) c.7800T= (p.Asp2600=) c.7746T= (p.Asp2582=) c.7716T= (p.Asp2572=) c.7671T= (p.Asp2557=) c.7266T= (p.Asp2422=) c.6624T= (p.Asp2208=) c.4134T= (p.Asp1378=) | |
10 | g.71803027G>A | CA5546386 | CDH23 | c.7612G>A (p.Glu2538Lys) c.1545G>A (n.1545G>A) c.1209G>A (n.1209G>A) c.7627G>A (p.Glu2543Lys) c.892G>A (p.Glu298Lys) n.1148G>A c.7807G>A (p.Glu2603Lys) c.7741G>A (p.Glu2581Lys) c.7804G>A (p.Glu2602Lys) c.7801G>A (p.Glu2601Lys) c.7747G>A (p.Glu2583Lys) c.7717G>A (p.Glu2573Lys) c.7672G>A (p.Glu2558Lys) c.7267G>A (p.Glu2423Lys) c.6625G>A (p.Glu2209Lys) c.4135G>A (p.Glu1379Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71803027G>C | CA377160848 | CDH23 | c.7612G>C (p.Glu2538Gln) c.1545G>C (n.1545G>C) c.1209G>C (n.1209G>C) c.7627G>C (p.Glu2543Gln) c.892G>C (p.Glu298Gln) n.1148G>C c.7807G>C (p.Glu2603Gln) c.7741G>C (p.Glu2581Gln) c.7804G>C (p.Glu2602Gln) c.7801G>C (p.Glu2601Gln) c.7747G>C (p.Glu2583Gln) c.7717G>C (p.Glu2573Gln) c.7672G>C (p.Glu2558Gln) c.7267G>C (p.Glu2423Gln) c.6625G>C (p.Glu2209Gln) c.4135G>C (p.Glu1379Gln) | |
10 | g.71803027G= | CA1918880438 | CDH23 | c.7612G= (p.Glu2538=) c.1545G= (n.1545G=) c.1209G= (n.1209G=) c.7627G= (p.Glu2543=) c.892G= (p.Glu298=) n.1148G= c.7807G= (p.Glu2603=) c.7741G= (p.Glu2581=) c.7804G= (p.Glu2602=) c.7801G= (p.Glu2601=) c.7747G= (p.Glu2583=) c.7717G= (p.Glu2573=) c.7672G= (p.Glu2558=) c.7267G= (p.Glu2423=) c.6625G= (p.Glu2209=) c.4135G= (p.Glu1379=) | |
10 | g.71803027G>T | CA377160849 | CDH23 | c.7612G>T (p.Glu2538Ter) c.1545G>T (n.1545G>T) c.1209G>T (n.1209G>T) c.7627G>T (p.Glu2543Ter) c.892G>T (p.Glu298Ter) n.1148G>T c.7807G>T (p.Glu2603Ter) c.7741G>T (p.Glu2581Ter) c.7804G>T (p.Glu2602Ter) c.7801G>T (p.Glu2601Ter) c.7747G>T (p.Glu2583Ter) c.7717G>T (p.Glu2573Ter) c.7672G>T (p.Glu2558Ter) c.7267G>T (p.Glu2423Ter) c.6625G>T (p.Glu2209Ter) c.4135G>T (p.Glu1379Ter) | |
10 | g.71803028A= | CA1918880439 | CDH23 | c.7613A= (p.Glu2538=) c.1546A= (n.1546A=) c.1210A= (n.1210A=) c.7628A= (p.Glu2543=) c.893A= (p.Glu298=) n.1149A= c.7808A= (p.Glu2603=) c.7742A= (p.Glu2581=) c.7805A= (p.Glu2602=) c.7802A= (p.Glu2601=) c.7748A= (p.Glu2583=) c.7718A= (p.Glu2573=) c.7673A= (p.Glu2558=) c.7268A= (p.Glu2423=) c.6626A= (p.Glu2209=) c.4136A= (p.Glu1379=) | |
10 | g.71803028A>C | CA377160851 | CDH23 | c.7613A>C (p.Glu2538Ala) c.1546A>C (n.1546A>C) c.1210A>C (n.1210A>C) c.7628A>C (p.Glu2543Ala) c.893A>C (p.Glu298Ala) n.1149A>C c.7808A>C (p.Glu2603Ala) c.7742A>C (p.Glu2581Ala) c.7805A>C (p.Glu2602Ala) c.7802A>C (p.Glu2601Ala) c.7748A>C (p.Glu2583Ala) c.7718A>C (p.Glu2573Ala) c.7673A>C (p.Glu2558Ala) c.7268A>C (p.Glu2423Ala) c.6626A>C (p.Glu2209Ala) c.4136A>C (p.Glu1379Ala) | |
10 | g.71803028A>G | CA5546387 | CDH23 | c.7613A>G (p.Glu2538Gly) c.1546A>G (n.1546A>G) c.1210A>G (n.1210A>G) c.7628A>G (p.Glu2543Gly) c.893A>G (p.Glu298Gly) n.1149A>G c.7808A>G (p.Glu2603Gly) c.7742A>G (p.Glu2581Gly) c.7805A>G (p.Glu2602Gly) c.7802A>G (p.Glu2601Gly) c.7748A>G (p.Glu2583Gly) c.7718A>G (p.Glu2573Gly) c.7673A>G (p.Glu2558Gly) c.7268A>G (p.Glu2423Gly) c.6626A>G (p.Glu2209Gly) c.4136A>G (p.Glu1379Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71803028A>T | CA377160850 | CDH23 | c.7613A>T (p.Glu2538Val) c.1546A>T (n.1546A>T) c.1210A>T (n.1210A>T) c.7628A>T (p.Glu2543Val) c.893A>T (p.Glu298Val) n.1149A>T c.7808A>T (p.Glu2603Val) c.7742A>T (p.Glu2581Val) c.7805A>T (p.Glu2602Val) c.7802A>T (p.Glu2601Val) c.7748A>T (p.Glu2583Val) c.7718A>T (p.Glu2573Val) c.7673A>T (p.Glu2558Val) c.7268A>T (p.Glu2423Val) c.6626A>T (p.Glu2209Val) c.4136A>T (p.Glu1379Val) | |
10 | g.71803029A>C | CA377160852 | CDH23 | c.7614A>C (p.Glu2538Asp) c.1547A>C (n.1547A>C) c.1211A>C (n.1211A>C) c.7629A>C (p.Glu2543Asp) c.894A>C (p.Glu298Asp) n.1150A>C c.7809A>C (p.Glu2603Asp) c.7743A>C (p.Glu2581Asp) c.7806A>C (p.Glu2602Asp) c.7803A>C (p.Glu2601Asp) c.7749A>C (p.Glu2583Asp) c.7719A>C (p.Glu2573Asp) c.7674A>C (p.Glu2558Asp) c.7269A>C (p.Glu2423Asp) c.6627A>C (p.Glu2209Asp) c.4137A>C (p.Glu1379Asp) | |
10 | g.71803029A>G | CA470062512 | CDH23 | c.7614A>G (p.Glu2538=) c.1547A>G (n.1547A>G) c.1211A>G (n.1211A>G) c.7629A>G (p.Glu2543=) c.894A>G (p.Glu298=) n.1150A>G c.7809A>G (p.Glu2603=) c.7743A>G (p.Glu2581=) c.7806A>G (p.Glu2602=) c.7803A>G (p.Glu2601=) c.7749A>G (p.Glu2583=) c.7719A>G (p.Glu2573=) c.7674A>G (p.Glu2558=) c.7269A>G (p.Glu2423=) c.6627A>G (p.Glu2209=) c.4137A>G (p.Glu1379=) | |
10 | g.71803029A>T | CA377160853 | CDH23 | c.7614A>T (p.Glu2538Asp) c.1547A>T (n.1547A>T) c.1211A>T (n.1211A>T) c.7629A>T (p.Glu2543Asp) c.894A>T (p.Glu298Asp) n.1150A>T c.7809A>T (p.Glu2603Asp) c.7743A>T (p.Glu2581Asp) c.7806A>T (p.Glu2602Asp) c.7803A>T (p.Glu2601Asp) c.7749A>T (p.Glu2583Asp) c.7719A>T (p.Glu2573Asp) c.7674A>T (p.Glu2558Asp) c.7269A>T (p.Glu2423Asp) c.6627A>T (p.Glu2209Asp) c.4137A>T (p.Glu1379Asp) | |
10 | g.71803030G>A | CA377160854 | CDH23 | c.7615G>A (p.Gly2539Ser) c.1548G>A (n.1548G>A) c.1212G>A (n.1212G>A) c.7630G>A (p.Gly2544Ser) c.895G>A (p.Gly299Ser) n.1151G>A c.7810G>A (p.Gly2604Ser) c.7744G>A (p.Gly2582Ser) c.7807G>A (p.Gly2603Ser) c.7804G>A (p.Gly2602Ser) c.7750G>A (p.Gly2584Ser) c.7720G>A (p.Gly2574Ser) c.7675G>A (p.Gly2559Ser) c.7270G>A (p.Gly2424Ser) c.6628G>A (p.Gly2210Ser) c.4138G>A (p.Gly1380Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71803030G>C | CA137577 | CDH23 | c.7615G>C (p.Gly2539Arg) c.1548G>C (n.1548G>C) c.1212G>C (n.1212G>C) c.7630G>C (p.Gly2544Arg) c.895G>C (p.Gly299Arg) n.1151G>C c.7810G>C (p.Gly2604Arg) c.7744G>C (p.Gly2582Arg) c.7807G>C (p.Gly2603Arg) c.7804G>C (p.Gly2602Arg) c.7750G>C (p.Gly2584Arg) c.7720G>C (p.Gly2574Arg) c.7675G>C (p.Gly2559Arg) c.7270G>C (p.Gly2424Arg) c.6628G>C (p.Gly2210Arg) c.4138G>C (p.Gly1380Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71803030G= | CA1918880440 | CDH23 | c.7615G= (p.Gly2539=) c.1548G= (n.1548G=) c.1212G= (n.1212G=) c.7630G= (p.Gly2544=) c.895G= (p.Gly299=) n.1151G= c.7810G= (p.Gly2604=) c.7744G= (p.Gly2582=) c.7807G= (p.Gly2603=) c.7804G= (p.Gly2602=) c.7750G= (p.Gly2584=) c.7720G= (p.Gly2574=) c.7675G= (p.Gly2559=) c.7270G= (p.Gly2424=) c.6628G= (p.Gly2210=) c.4138G= (p.Gly1380=) | |
10 | g.71803030G>T | CA377160855 | CDH23 | c.7615G>T (p.Gly2539Cys) c.1548G>T (n.1548G>T) c.1212G>T (n.1212G>T) c.7630G>T (p.Gly2544Cys) c.895G>T (p.Gly299Cys) n.1151G>T c.7810G>T (p.Gly2604Cys) c.7744G>T (p.Gly2582Cys) c.7807G>T (p.Gly2603Cys) c.7804G>T (p.Gly2602Cys) c.7750G>T (p.Gly2584Cys) c.7720G>T (p.Gly2574Cys) c.7675G>T (p.Gly2559Cys) c.7270G>T (p.Gly2424Cys) c.6628G>T (p.Gly2210Cys) c.4138G>T (p.Gly1380Cys) | gnomAD v4 |
10 | g.71803031G>A | CA377160856 | CDH23 | c.7616G>A (p.Gly2539Asp) c.1549G>A (n.1549G>A) c.1213G>A (n.1213G>A) c.7631G>A (p.Gly2544Asp) c.896G>A (p.Gly299Asp) n.1152G>A c.7811G>A (p.Gly2604Asp) c.7745G>A (p.Gly2582Asp) c.7808G>A (p.Gly2603Asp) c.7805G>A (p.Gly2602Asp) c.7751G>A (p.Gly2584Asp) c.7721G>A (p.Gly2574Asp) c.7676G>A (p.Gly2559Asp) c.7271G>A (p.Gly2424Asp) c.6629G>A (p.Gly2210Asp) c.4139G>A (p.Gly1380Asp) | |
10 | g.71803031G>C | CA377160857 | CDH23 | c.7616G>C (p.Gly2539Ala) c.1549G>C (n.1549G>C) c.1213G>C (n.1213G>C) c.7631G>C (p.Gly2544Ala) c.896G>C (p.Gly299Ala) n.1152G>C c.7811G>C (p.Gly2604Ala) c.7745G>C (p.Gly2582Ala) c.7808G>C (p.Gly2603Ala) c.7805G>C (p.Gly2602Ala) c.7751G>C (p.Gly2584Ala) c.7721G>C (p.Gly2574Ala) c.7676G>C (p.Gly2559Ala) c.7271G>C (p.Gly2424Ala) c.6629G>C (p.Gly2210Ala) c.4139G>C (p.Gly1380Ala) | ClinVar dbSNP |
10 | g.71803031G= | CA1918880441 | CDH23 | c.7616G= (p.Gly2539=) c.1549G= (n.1549G=) c.1213G= (n.1213G=) c.7631G= (p.Gly2544=) c.896G= (p.Gly299=) n.1152G= c.7811G= (p.Gly2604=) c.7745G= (p.Gly2582=) c.7808G= (p.Gly2603=) c.7805G= (p.Gly2602=) c.7751G= (p.Gly2584=) c.7721G= (p.Gly2574=) c.7676G= (p.Gly2559=) c.7271G= (p.Gly2424=) c.6629G= (p.Gly2210=) c.4139G= (p.Gly1380=) | |
10 | g.71803031G>T | CA377160858 | CDH23 | c.7616G>T (p.Gly2539Val) c.1549G>T (n.1549G>T) c.1213G>T (n.1213G>T) c.7631G>T (p.Gly2544Val) c.896G>T (p.Gly299Val) n.1152G>T c.7811G>T (p.Gly2604Val) c.7745G>T (p.Gly2582Val) c.7808G>T (p.Gly2603Val) c.7805G>T (p.Gly2602Val) c.7751G>T (p.Gly2584Val) c.7721G>T (p.Gly2574Val) c.7676G>T (p.Gly2559Val) c.7271G>T (p.Gly2424Val) c.6629G>T (p.Gly2210Val) c.4139G>T (p.Gly1380Val) | |
10 | g.71803032T>A | CA470062513 | CDH23 | c.7617T>A (p.Gly2539=) c.1550T>A (n.1550T>A) c.1214T>A (n.1214T>A) c.7632T>A (p.Gly2544=) c.897T>A (p.Gly299=) n.1153T>A c.7812T>A (p.Gly2604=) c.7746T>A (p.Gly2582=) c.7809T>A (p.Gly2603=) c.7806T>A (p.Gly2602=) c.7752T>A (p.Gly2584=) c.7722T>A (p.Gly2574=) c.7677T>A (p.Gly2559=) c.7272T>A (p.Gly2424=) c.6630T>A (p.Gly2210=) c.4140T>A (p.Gly1380=) | |
10 | g.71803032T>C | CA470062514 | CDH23 | c.7617T>C (p.Gly2539=) c.1550T>C (n.1550T>C) c.1214T>C (n.1214T>C) c.7632T>C (p.Gly2544=) c.897T>C (p.Gly299=) n.1153T>C c.7812T>C (p.Gly2604=) c.7746T>C (p.Gly2582=) c.7809T>C (p.Gly2603=) c.7806T>C (p.Gly2602=) c.7752T>C (p.Gly2584=) c.7722T>C (p.Gly2574=) c.7677T>C (p.Gly2559=) c.7272T>C (p.Gly2424=) c.6630T>C (p.Gly2210=) c.4140T>C (p.Gly1380=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.71803032T>G | CA470062515 | CDH23 | c.7617T>G (p.Gly2539=) c.1550T>G (n.1550T>G) c.1214T>G (n.1214T>G) c.7632T>G (p.Gly2544=) c.897T>G (p.Gly299=) n.1153T>G c.7812T>G (p.Gly2604=) c.7746T>G (p.Gly2582=) c.7809T>G (p.Gly2603=) c.7806T>G (p.Gly2602=) c.7752T>G (p.Gly2584=) c.7722T>G (p.Gly2574=) c.7677T>G (p.Gly2559=) c.7272T>G (p.Gly2424=) c.6630T>G (p.Gly2210=) c.4140T>G (p.Gly1380=) | |
10 | g.71803032T= | CA1918880442 | CDH23 | c.7617T= (p.Gly2539=) c.1550T= (n.1550T=) c.1214T= (n.1214T=) c.7632T= (p.Gly2544=) c.897T= (p.Gly299=) n.1153T= c.7812T= (p.Gly2604=) c.7746T= (p.Gly2582=) c.7809T= (p.Gly2603=) c.7806T= (p.Gly2602=) c.7752T= (p.Gly2584=) c.7722T= (p.Gly2574=) c.7677T= (p.Gly2559=) c.7272T= (p.Gly2424=) c.6630T= (p.Gly2210=) c.4140T= (p.Gly1380=) | |
10 | g.71803033C>A | CA377160859 | CDH23 | c.7618C>A (p.Pro2540Thr) c.1551C>A (n.1551C>A) c.1215C>A (n.1215C>A) c.7633C>A (p.Pro2545Thr) c.898C>A (p.Pro300Thr) n.1154C>A c.7813C>A (p.Pro2605Thr) c.7747C>A (p.Pro2583Thr) c.7810C>A (p.Pro2604Thr) c.7807C>A (p.Pro2603Thr) c.7753C>A (p.Pro2585Thr) c.7723C>A (p.Pro2575Thr) c.7678C>A (p.Pro2560Thr) c.7273C>A (p.Pro2425Thr) c.6631C>A (p.Pro2211Thr) c.4141C>A (p.Pro1381Thr) | gnomAD v4 |
10 | g.71803033C= | CA1918880443 | CDH23 | c.7618C= (p.Pro2540=) c.1551C= (n.1551C=) c.1215C= (n.1215C=) c.7633C= (p.Pro2545=) c.898C= (p.Pro300=) n.1154C= c.7813C= (p.Pro2605=) c.7747C= (p.Pro2583=) c.7810C= (p.Pro2604=) c.7807C= (p.Pro2603=) c.7753C= (p.Pro2585=) c.7723C= (p.Pro2575=) c.7678C= (p.Pro2560=) c.7273C= (p.Pro2425=) c.6631C= (p.Pro2211=) c.4141C= (p.Pro1381=) | |
10 | g.71803033C>G | CA377160860 | CDH23 | c.7618C>G (p.Pro2540Ala) c.1551C>G (n.1551C>G) c.1215C>G (n.1215C>G) c.7633C>G (p.Pro2545Ala) c.898C>G (p.Pro300Ala) n.1154C>G c.7813C>G (p.Pro2605Ala) c.7747C>G (p.Pro2583Ala) c.7810C>G (p.Pro2604Ala) c.7807C>G (p.Pro2603Ala) c.7753C>G (p.Pro2585Ala) c.7723C>G (p.Pro2575Ala) c.7678C>G (p.Pro2560Ala) c.7273C>G (p.Pro2425Ala) c.6631C>G (p.Pro2211Ala) c.4141C>G (p.Pro1381Ala) | |
10 | g.71803033C>T | CA5546388 | CDH23 | c.7618C>T (p.Pro2540Ser) c.1551C>T (n.1551C>T) c.1215C>T (n.1215C>T) c.7633C>T (p.Pro2545Ser) c.898C>T (p.Pro300Ser) n.1154C>T c.7813C>T (p.Pro2605Ser) c.7747C>T (p.Pro2583Ser) c.7810C>T (p.Pro2604Ser) c.7807C>T (p.Pro2603Ser) c.7753C>T (p.Pro2585Ser) c.7723C>T (p.Pro2575Ser) c.7678C>T (p.Pro2560Ser) c.7273C>T (p.Pro2425Ser) c.6631C>T (p.Pro2211Ser) c.4141C>T (p.Pro1381Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71803034C>A | CA377160861 | CDH23 | c.7619C>A (p.Pro2540His) c.1552C>A (n.1552C>A) c.1216C>A (n.1216C>A) c.7634C>A (p.Pro2545His) c.899C>A (p.Pro300His) n.1155C>A c.7814C>A (p.Pro2605His) c.7748C>A (p.Pro2583His) c.7811C>A (p.Pro2604His) c.7808C>A (p.Pro2603His) c.7754C>A (p.Pro2585His) c.7724C>A (p.Pro2575His) c.7679C>A (p.Pro2560His) c.7274C>A (p.Pro2425His) c.6632C>A (p.Pro2211His) c.4142C>A (p.Pro1381His) | |
10 | g.71803034C>G | CA377160862 | CDH23 | c.7619C>G (p.Pro2540Arg) c.1552C>G (n.1552C>G) c.1216C>G (n.1216C>G) c.7634C>G (p.Pro2545Arg) c.899C>G (p.Pro300Arg) n.1155C>G c.7814C>G (p.Pro2605Arg) c.7748C>G (p.Pro2583Arg) c.7811C>G (p.Pro2604Arg) c.7808C>G (p.Pro2603Arg) c.7754C>G (p.Pro2585Arg) c.7724C>G (p.Pro2575Arg) c.7679C>G (p.Pro2560Arg) c.7274C>G (p.Pro2425Arg) c.6632C>G (p.Pro2211Arg) c.4142C>G (p.Pro1381Arg) | |
10 | g.71803034C>T | CA377160863 | CDH23 | c.7619C>T (p.Pro2540Leu) c.1552C>T (n.1552C>T) c.1216C>T (n.1216C>T) c.7634C>T (p.Pro2545Leu) c.899C>T (p.Pro300Leu) n.1155C>T c.7814C>T (p.Pro2605Leu) c.7748C>T (p.Pro2583Leu) c.7811C>T (p.Pro2604Leu) c.7808C>T (p.Pro2603Leu) c.7754C>T (p.Pro2585Leu) c.7724C>T (p.Pro2575Leu) c.7679C>T (p.Pro2560Leu) c.7274C>T (p.Pro2425Leu) c.6632C>T (p.Pro2211Leu) c.4142C>T (p.Pro1381Leu) | |
10 | g.71803035C>A | CA470062516 | CDH23 | c.7620C>A (p.Pro2540=) c.1553C>A (n.1553C>A) c.1217C>A (n.1217C>A) c.7635C>A (p.Pro2545=) c.900C>A (p.Pro300=) n.1156C>A c.7815C>A (p.Pro2605=) c.7749C>A (p.Pro2583=) c.7812C>A (p.Pro2604=) c.7809C>A (p.Pro2603=) c.7755C>A (p.Pro2585=) c.7725C>A (p.Pro2575=) c.7680C>A (p.Pro2560=) c.7275C>A (p.Pro2425=) c.6633C>A (p.Pro2211=) c.4143C>A (p.Pro1381=) | dbSNP |
10 | g.71803035C= | CA1918880444 | CDH23 | c.7620C= (p.Pro2540=) c.1553C= (n.1553C=) c.1217C= (n.1217C=) c.7635C= (p.Pro2545=) c.900C= (p.Pro300=) n.1156C= c.7815C= (p.Pro2605=) c.7749C= (p.Pro2583=) c.7812C= (p.Pro2604=) c.7809C= (p.Pro2603=) c.7755C= (p.Pro2585=) c.7725C= (p.Pro2575=) c.7680C= (p.Pro2560=) c.7275C= (p.Pro2425=) c.6633C= (p.Pro2211=) c.4143C= (p.Pro1381=) | |
10 | g.71803035C>G | CA470062517 | CDH23 | c.7620C>G (p.Pro2540=) c.1553C>G (n.1553C>G) c.1217C>G (n.1217C>G) c.7635C>G (p.Pro2545=) c.900C>G (p.Pro300=) n.1156C>G c.7815C>G (p.Pro2605=) c.7749C>G (p.Pro2583=) c.7812C>G (p.Pro2604=) c.7809C>G (p.Pro2603=) c.7755C>G (p.Pro2585=) c.7725C>G (p.Pro2575=) c.7680C>G (p.Pro2560=) c.7275C>G (p.Pro2425=) c.6633C>G (p.Pro2211=) c.4143C>G (p.Pro1381=) | |
10 | g.71803035C>T | CA470062518 | CDH23 | c.7620C>T (p.Pro2540=) c.1553C>T (n.1553C>T) c.1217C>T (n.1217C>T) c.7635C>T (p.Pro2545=) c.900C>T (p.Pro300=) n.1156C>T c.7815C>T (p.Pro2605=) c.7749C>T (p.Pro2583=) c.7812C>T (p.Pro2604=) c.7809C>T (p.Pro2603=) c.7755C>T (p.Pro2585=) c.7725C>T (p.Pro2575=) c.7680C>T (p.Pro2560=) c.7275C>T (p.Pro2425=) c.6633C>T (p.Pro2211=) c.4143C>T (p.Pro1381=) | |
10 | g.71803036A>C | CA377160865 | CDH23 | c.7621A>C (p.Asn2541His) c.1554A>C (n.1554A>C) c.1218A>C (n.1218A>C) c.7636A>C (p.Asn2546His) c.901A>C (p.Asn301His) n.1157A>C c.7816A>C (p.Asn2606His) c.7750A>C (p.Asn2584His) c.7813A>C (p.Asn2605His) c.7810A>C (p.Asn2604His) c.7756A>C (p.Asn2586His) c.7726A>C (p.Asn2576His) c.7681A>C (p.Asn2561His) c.7276A>C (p.Asn2426His) c.6634A>C (p.Asn2212His) c.4144A>C (p.Asn1382His) | |
10 | g.71803036A>G | CA377160866 | CDH23 | c.7621A>G (p.Asn2541Asp) c.1554A>G (n.1554A>G) c.1218A>G (n.1218A>G) c.7636A>G (p.Asn2546Asp) c.901A>G (p.Asn301Asp) n.1157A>G c.7816A>G (p.Asn2606Asp) c.7750A>G (p.Asn2584Asp) c.7813A>G (p.Asn2605Asp) c.7810A>G (p.Asn2604Asp) c.7756A>G (p.Asn2586Asp) c.7726A>G (p.Asn2576Asp) c.7681A>G (p.Asn2561Asp) c.7276A>G (p.Asn2426Asp) c.6634A>G (p.Asn2212Asp) c.4144A>G (p.Asn1382Asp) | |
10 | g.71803036A>T | CA377160864 | CDH23 | c.7621A>T (p.Asn2541Tyr) c.1554A>T (n.1554A>T) c.1218A>T (n.1218A>T) c.7636A>T (p.Asn2546Tyr) c.901A>T (p.Asn301Tyr) n.1157A>T c.7816A>T (p.Asn2606Tyr) c.7750A>T (p.Asn2584Tyr) c.7813A>T (p.Asn2605Tyr) c.7810A>T (p.Asn2604Tyr) c.7756A>T (p.Asn2586Tyr) c.7726A>T (p.Asn2576Tyr) c.7681A>T (p.Asn2561Tyr) c.7276A>T (p.Asn2426Tyr) c.6634A>T (p.Asn2212Tyr) c.4144A>T (p.Asn1382Tyr) | |
10 | g.71803037A= | CA1918880445 | CDH23 | c.7622A= (p.Asn2541=) c.1555A= (n.1555A=) c.1219A= (n.1219A=) c.7637A= (p.Asn2546=) c.902A= (p.Asn301=) n.1158A= c.7817A= (p.Asn2606=) c.7751A= (p.Asn2584=) c.7814A= (p.Asn2605=) c.7811A= (p.Asn2604=) c.7757A= (p.Asn2586=) c.7727A= (p.Asn2576=) c.7682A= (p.Asn2561=) c.7277A= (p.Asn2426=) c.6635A= (p.Asn2212=) c.4145A= (p.Asn1382=) | |
10 | g.71803037A>C | CA377160867 | CDH23 | c.7622A>C (p.Asn2541Thr) c.1555A>C (n.1555A>C) c.1219A>C (n.1219A>C) c.7637A>C (p.Asn2546Thr) c.902A>C (p.Asn301Thr) n.1158A>C c.7817A>C (p.Asn2606Thr) c.7751A>C (p.Asn2584Thr) c.7814A>C (p.Asn2605Thr) c.7811A>C (p.Asn2604Thr) c.7757A>C (p.Asn2586Thr) c.7727A>C (p.Asn2576Thr) c.7682A>C (p.Asn2561Thr) c.7277A>C (p.Asn2426Thr) c.6635A>C (p.Asn2212Thr) c.4145A>C (p.Asn1382Thr) | |
10 | g.71803037A>G | CA5546389 | CDH23 | c.7622A>G (p.Asn2541Ser) c.1555A>G (n.1555A>G) c.1219A>G (n.1219A>G) c.7637A>G (p.Asn2546Ser) c.902A>G (p.Asn301Ser) n.1158A>G c.7817A>G (p.Asn2606Ser) c.7751A>G (p.Asn2584Ser) c.7814A>G (p.Asn2605Ser) c.7811A>G (p.Asn2604Ser) c.7757A>G (p.Asn2586Ser) c.7727A>G (p.Asn2576Ser) c.7682A>G (p.Asn2561Ser) c.7277A>G (p.Asn2426Ser) c.6635A>G (p.Asn2212Ser) c.4145A>G (p.Asn1382Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.71803037A>T | CA377160868 | CDH23 | c.7622A>T (p.Asn2541Ile) c.1555A>T (n.1555A>T) c.1219A>T (n.1219A>T) c.7637A>T (p.Asn2546Ile) c.902A>T (p.Asn301Ile) n.1158A>T c.7817A>T (p.Asn2606Ile) c.7751A>T (p.Asn2584Ile) c.7814A>T (p.Asn2605Ile) c.7811A>T (p.Asn2604Ile) c.7757A>T (p.Asn2586Ile) c.7727A>T (p.Asn2576Ile) c.7682A>T (p.Asn2561Ile) c.7277A>T (p.Asn2426Ile) c.6635A>T (p.Asn2212Ile) c.4145A>T (p.Asn1382Ile) | |
10 | g.71803038T>A | CA377160869 | CDH23 | c.7623T>A (p.Asn2541Lys) c.1556T>A (n.1556T>A) c.1220T>A (n.1220T>A) c.7638T>A (p.Asn2546Lys) c.903T>A (p.Asn301Lys) n.1159T>A c.7818T>A (p.Asn2606Lys) c.7752T>A (p.Asn2584Lys) c.7815T>A (p.Asn2605Lys) c.7812T>A (p.Asn2604Lys) c.7758T>A (p.Asn2586Lys) c.7728T>A (p.Asn2576Lys) c.7683T>A (p.Asn2561Lys) c.7278T>A (p.Asn2426Lys) c.6636T>A (p.Asn2212Lys) c.4146T>A (p.Asn1382Lys) | |
10 | g.71803038T>C | CA470062519 | CDH23 | c.7623T>C (p.Asn2541=) c.1556T>C (n.1556T>C) c.1220T>C (n.1220T>C) c.7638T>C (p.Asn2546=) c.903T>C (p.Asn301=) n.1159T>C c.7818T>C (p.Asn2606=) c.7752T>C (p.Asn2584=) c.7815T>C (p.Asn2605=) c.7812T>C (p.Asn2604=) c.7758T>C (p.Asn2586=) c.7728T>C (p.Asn2576=) c.7683T>C (p.Asn2561=) c.7278T>C (p.Asn2426=) c.6636T>C (p.Asn2212=) c.4146T>C (p.Asn1382=) | ClinVar |
10 | g.71803038T>G | CA377160870 | CDH23 | c.7623T>G (p.Asn2541Lys) c.1556T>G (n.1556T>G) c.1220T>G (n.1220T>G) c.7638T>G (p.Asn2546Lys) c.903T>G (p.Asn301Lys) n.1159T>G c.7818T>G (p.Asn2606Lys) c.7752T>G (p.Asn2584Lys) c.7815T>G (p.Asn2605Lys) c.7812T>G (p.Asn2604Lys) c.7758T>G (p.Asn2586Lys) c.7728T>G (p.Asn2576Lys) c.7683T>G (p.Asn2561Lys) c.7278T>G (p.Asn2426Lys) c.6636T>G (p.Asn2212Lys) c.4146T>G (p.Asn1382Lys) | |
10 | g.71803039_71803045del | CA2695199543 | CDH23 | c.7624_7630del (p.Gly2542Ter) c.1557_1563del (n.1557_1563del) c.1221_1227del (n.1221_1227del) c.7639_7645del (p.Gly2547Ter) c.904_910del (p.Gly302Ter) n.1160_1166del c.7819_7825del (p.Gly2607Ter) c.7753_7759del (p.Gly2585Ter) c.7816_7822del (p.Gly2606Ter) c.7813_7819del (p.Gly2605Ter) c.7759_7765del (p.Gly2587Ter) c.7729_7735del (p.Gly2577Ter) c.7684_7690del (p.Gly2562Ter) c.7279_7285del (p.Gly2427Ter) c.6637_6643del (p.Gly2213Ter) c.4147_4153del (p.Gly1383Ter) | ClinVar |
10 | g.71803039G>A | CA377160873 | CDH23 | c.7624G>A (p.Gly2542Arg) c.1557G>A (n.1557G>A) c.1221G>A (n.1221G>A) c.7639G>A (p.Gly2547Arg) c.904G>A (p.Gly302Arg) n.1160G>A c.7819G>A (p.Gly2607Arg) c.7753G>A (p.Gly2585Arg) c.7816G>A (p.Gly2606Arg) c.7813G>A (p.Gly2605Arg) c.7759G>A (p.Gly2587Arg) c.7729G>A (p.Gly2577Arg) c.7684G>A (p.Gly2562Arg) c.7279G>A (p.Gly2427Arg) c.6637G>A (p.Gly2213Arg) c.4147G>A (p.Gly1383Arg) | |
10 | g.71803039G>C | CA377160872 | CDH23 | c.7624G>C (p.Gly2542Arg) c.1557G>C (n.1557G>C) c.1221G>C (n.1221G>C) c.7639G>C (p.Gly2547Arg) c.904G>C (p.Gly302Arg) n.1160G>C c.7819G>C (p.Gly2607Arg) c.7753G>C (p.Gly2585Arg) c.7816G>C (p.Gly2606Arg) c.7813G>C (p.Gly2605Arg) c.7759G>C (p.Gly2587Arg) c.7729G>C (p.Gly2577Arg) c.7684G>C (p.Gly2562Arg) c.7279G>C (p.Gly2427Arg) c.6637G>C (p.Gly2213Arg) c.4147G>C (p.Gly1383Arg) | |
10 | g.71803039G>T | CA377160871 | CDH23 | c.7624G>T (p.Gly2542Ter) c.1557G>T (n.1557G>T) c.1221G>T (n.1221G>T) c.7639G>T (p.Gly2547Ter) c.904G>T (p.Gly302Ter) n.1160G>T c.7819G>T (p.Gly2607Ter) c.7753G>T (p.Gly2585Ter) c.7816G>T (p.Gly2606Ter) c.7813G>T (p.Gly2605Ter) c.7759G>T (p.Gly2587Ter) c.7729G>T (p.Gly2577Ter) c.7684G>T (p.Gly2562Ter) c.7279G>T (p.Gly2427Ter) c.6637G>T (p.Gly2213Ter) c.4147G>T (p.Gly1383Ter) | |
10 | g.71803040G>A | CA377160874 | CDH23 | c.7625G>A (p.Gly2542Glu) c.1558G>A (n.1558G>A) c.1222G>A (n.1222G>A) c.7640G>A (p.Gly2547Glu) c.905G>A (p.Gly302Glu) n.1161G>A c.7820G>A (p.Gly2607Glu) c.7754G>A (p.Gly2585Glu) c.7817G>A (p.Gly2606Glu) c.7814G>A (p.Gly2605Glu) c.7760G>A (p.Gly2587Glu) c.7730G>A (p.Gly2577Glu) c.7685G>A (p.Gly2562Glu) c.7280G>A (p.Gly2427Glu) c.6638G>A (p.Gly2213Glu) c.4148G>A (p.Gly1383Glu) | |
10 | g.71803040G>C | CA377160875 | CDH23 | c.7625G>C (p.Gly2542Ala) c.1558G>C (n.1558G>C) c.1222G>C (n.1222G>C) c.7640G>C (p.Gly2547Ala) c.905G>C (p.Gly302Ala) n.1161G>C c.7820G>C (p.Gly2607Ala) c.7754G>C (p.Gly2585Ala) c.7817G>C (p.Gly2606Ala) c.7814G>C (p.Gly2605Ala) c.7760G>C (p.Gly2587Ala) c.7730G>C (p.Gly2577Ala) c.7685G>C (p.Gly2562Ala) c.7280G>C (p.Gly2427Ala) c.6638G>C (p.Gly2213Ala) c.4148G>C (p.Gly1383Ala) | gnomAD v4 |
10 | g.71803040G>T | CA377160876 | CDH23 | c.7625G>T (p.Gly2542Val) c.1558G>T (n.1558G>T) c.1222G>T (n.1222G>T) c.7640G>T (p.Gly2547Val) c.905G>T (p.Gly302Val) n.1161G>T c.7820G>T (p.Gly2607Val) c.7754G>T (p.Gly2585Val) c.7817G>T (p.Gly2606Val) c.7814G>T (p.Gly2605Val) c.7760G>T (p.Gly2587Val) c.7730G>T (p.Gly2577Val) c.7685G>T (p.Gly2562Val) c.7280G>T (p.Gly2427Val) c.6638G>T (p.Gly2213Val) c.4148G>T (p.Gly1383Val) | |
10 | g.71803041A>C | CA470062520 | CDH23 | c.7626A>C (p.Gly2542=) c.1559A>C (n.1559A>C) c.1223A>C (n.1223A>C) c.7641A>C (p.Gly2547=) c.906A>C (p.Gly302=) n.1162A>C c.7821A>C (p.Gly2607=) c.7755A>C (p.Gly2585=) c.7818A>C (p.Gly2606=) c.7815A>C (p.Gly2605=) c.7761A>C (p.Gly2587=) c.7731A>C (p.Gly2577=) c.7686A>C (p.Gly2562=) c.7281A>C (p.Gly2427=) c.6639A>C (p.Gly2213=) c.4149A>C (p.Gly1383=) | |
10 | g.71803041A>G | CA470062521 | CDH23 | c.7626A>G (p.Gly2542=) c.1559A>G (n.1559A>G) c.1223A>G (n.1223A>G) c.7641A>G (p.Gly2547=) c.906A>G (p.Gly302=) n.1162A>G c.7821A>G (p.Gly2607=) c.7755A>G (p.Gly2585=) c.7818A>G (p.Gly2606=) c.7815A>G (p.Gly2605=) c.7761A>G (p.Gly2587=) c.7731A>G (p.Gly2577=) c.7686A>G (p.Gly2562=) c.7281A>G (p.Gly2427=) c.6639A>G (p.Gly2213=) c.4149A>G (p.Gly1383=) | |
10 | g.71803041A>T | CA470062522 | CDH23 | c.7626A>T (p.Gly2542=) c.1559A>T (n.1559A>T) c.1223A>T (n.1223A>T) c.7641A>T (p.Gly2547=) c.906A>T (p.Gly302=) n.1162A>T c.7821A>T (p.Gly2607=) c.7755A>T (p.Gly2585=) c.7818A>T (p.Gly2606=) c.7815A>T (p.Gly2605=) c.7761A>T (p.Gly2587=) c.7731A>T (p.Gly2577=) c.7686A>T (p.Gly2562=) c.7281A>T (p.Gly2427=) c.6639A>T (p.Gly2213=) c.4149A>T (p.Gly1383=) | COSMIC |
10 | g.71803042G>A | CA377160877 | CDH23 | c.7627G>A (p.Glu2543Lys) c.1560G>A (n.1560G>A) c.1224G>A (n.1224G>A) c.7642G>A (p.Glu2548Lys) c.907G>A (p.Glu303Lys) n.1163G>A c.7822G>A (p.Glu2608Lys) c.7756G>A (p.Glu2586Lys) c.7819G>A (p.Glu2607Lys) c.7816G>A (p.Glu2606Lys) c.7762G>A (p.Glu2588Lys) c.7732G>A (p.Glu2578Lys) c.7687G>A (p.Glu2563Lys) c.7282G>A (p.Glu2428Lys) c.6640G>A (p.Glu2214Lys) c.4150G>A (p.Glu1384Lys) | gnomAD v4 |
10 | g.71803042G>C | CA377160878 | CDH23 | c.7627G>C (p.Glu2543Gln) c.1560G>C (n.1560G>C) c.1224G>C (n.1224G>C) c.7642G>C (p.Glu2548Gln) c.907G>C (p.Glu303Gln) n.1163G>C c.7822G>C (p.Glu2608Gln) c.7756G>C (p.Glu2586Gln) c.7819G>C (p.Glu2607Gln) c.7816G>C (p.Glu2606Gln) c.7762G>C (p.Glu2588Gln) c.7732G>C (p.Glu2578Gln) c.7687G>C (p.Glu2563Gln) c.7282G>C (p.Glu2428Gln) c.6640G>C (p.Glu2214Gln) c.4150G>C (p.Glu1384Gln) | gnomAD v4 |
10 | g.71803042G>T | CA377160879 | CDH23 | c.7627G>T (p.Glu2543Ter) c.1560G>T (n.1560G>T) c.1224G>T (n.1224G>T) c.7642G>T (p.Glu2548Ter) c.907G>T (p.Glu303Ter) n.1163G>T c.7822G>T (p.Glu2608Ter) c.7756G>T (p.Glu2586Ter) c.7819G>T (p.Glu2607Ter) c.7816G>T (p.Glu2606Ter) c.7762G>T (p.Glu2588Ter) c.7732G>T (p.Glu2578Ter) c.7687G>T (p.Glu2563Ter) c.7282G>T (p.Glu2428Ter) c.6640G>T (p.Glu2214Ter) c.4150G>T (p.Glu1384Ter) | |
10 | g.71803043A>C | CA377160880 | CDH23 | c.7628A>C (p.Glu2543Ala) c.1561A>C (n.1561A>C) c.1225A>C (n.1225A>C) c.7643A>C (p.Glu2548Ala) c.908A>C (p.Glu303Ala) n.1164A>C c.7823A>C (p.Glu2608Ala) c.7757A>C (p.Glu2586Ala) c.7820A>C (p.Glu2607Ala) c.7817A>C (p.Glu2606Ala) c.7763A>C (p.Glu2588Ala) c.7733A>C (p.Glu2578Ala) c.7688A>C (p.Glu2563Ala) c.7283A>C (p.Glu2428Ala) c.6641A>C (p.Glu2214Ala) c.4151A>C (p.Glu1384Ala) | |
10 | g.71803043A>G | CA377160882 | CDH23 | c.7628A>G (p.Glu2543Gly) c.1561A>G (n.1561A>G) c.1225A>G (n.1225A>G) c.7643A>G (p.Glu2548Gly) c.908A>G (p.Glu303Gly) n.1164A>G c.7823A>G (p.Glu2608Gly) c.7757A>G (p.Glu2586Gly) c.7820A>G (p.Glu2607Gly) c.7817A>G (p.Glu2606Gly) c.7763A>G (p.Glu2588Gly) c.7733A>G (p.Glu2578Gly) c.7688A>G (p.Glu2563Gly) c.7283A>G (p.Glu2428Gly) c.6641A>G (p.Glu2214Gly) c.4151A>G (p.Glu1384Gly) | |
10 | g.71803043A>T | CA377160881 | CDH23 | c.7628A>T (p.Glu2543Val) c.1561A>T (n.1561A>T) c.1225A>T (n.1225A>T) c.7643A>T (p.Glu2548Val) c.908A>T (p.Glu303Val) n.1164A>T c.7823A>T (p.Glu2608Val) c.7757A>T (p.Glu2586Val) c.7820A>T (p.Glu2607Val) c.7817A>T (p.Glu2606Val) c.7763A>T (p.Glu2588Val) c.7733A>T (p.Glu2578Val) c.7688A>T (p.Glu2563Val) c.7283A>T (p.Glu2428Val) c.6641A>T (p.Glu2214Val) c.4151A>T (p.Glu1384Val) | |
10 | g.71803044G>A | CA470062523 | CDH23 | c.7629G>A (p.Glu2543=) c.1562G>A (n.1562G>A) c.1226G>A (n.1226G>A) c.7644G>A (p.Glu2548=) c.909G>A (p.Glu303=) n.1165G>A c.7824G>A (p.Glu2608=) c.7758G>A (p.Glu2586=) c.7821G>A (p.Glu2607=) c.7818G>A (p.Glu2606=) c.7764G>A (p.Glu2588=) c.7734G>A (p.Glu2578=) c.7689G>A (p.Glu2563=) c.7284G>A (p.Glu2428=) c.6642G>A (p.Glu2214=) c.4152G>A (p.Glu1384=) | |
10 | g.71803044G>C | CA377160883 | CDH23 | c.7629G>C (p.Glu2543Asp) c.1562G>C (n.1562G>C) c.1226G>C (n.1226G>C) c.7644G>C (p.Glu2548Asp) c.909G>C (p.Glu303Asp) n.1165G>C c.7824G>C (p.Glu2608Asp) c.7758G>C (p.Glu2586Asp) c.7821G>C (p.Glu2607Asp) c.7818G>C (p.Glu2606Asp) c.7764G>C (p.Glu2588Asp) c.7734G>C (p.Glu2578Asp) c.7689G>C (p.Glu2563Asp) c.7284G>C (p.Glu2428Asp) c.6642G>C (p.Glu2214Asp) c.4152G>C (p.Glu1384Asp) | |
10 | g.71803044G>T | CA377160884 | CDH23 | c.7629G>T (p.Glu2543Asp) c.1562G>T (n.1562G>T) c.1226G>T (n.1226G>T) c.7644G>T (p.Glu2548Asp) c.909G>T (p.Glu303Asp) n.1165G>T c.7824G>T (p.Glu2608Asp) c.7758G>T (p.Glu2586Asp) c.7821G>T (p.Glu2607Asp) c.7818G>T (p.Glu2606Asp) c.7764G>T (p.Glu2588Asp) c.7734G>T (p.Glu2578Asp) c.7689G>T (p.Glu2563Asp) c.7284G>T (p.Glu2428Asp) c.6642G>T (p.Glu2214Asp) c.4152G>T (p.Glu1384Asp) | |
10 | g.71803045T>A | CA377160885 | CDH23 | c.7630T>A (p.Leu2544Met) c.1563T>A (n.1563T>A) c.1227T>A (n.1227T>A) c.7645T>A (p.Leu2549Met) c.910T>A (p.Leu304Met) n.1166T>A c.7825T>A (p.Leu2609Met) c.7759T>A (p.Leu2587Met) c.7822T>A (p.Leu2608Met) c.7819T>A (p.Leu2607Met) c.7765T>A (p.Leu2589Met) c.7735T>A (p.Leu2579Met) c.7690T>A (p.Leu2564Met) c.7285T>A (p.Leu2429Met) c.6643T>A (p.Leu2215Met) c.4153T>A (p.Leu1385Met) | |
10 | g.71803045T>C | CA137579 | CDH23 | c.7630T>C (p.Leu2544=) c.1563T>C (n.1563T>C) c.1227T>C (n.1227T>C) c.7645T>C (p.Leu2549=) c.910T>C (p.Leu304=) n.1166T>C c.7825T>C (p.Leu2609=) c.7759T>C (p.Leu2587=) c.7822T>C (p.Leu2608=) c.7819T>C (p.Leu2607=) c.7765T>C (p.Leu2589=) c.7735T>C (p.Leu2579=) c.7690T>C (p.Leu2564=) c.7285T>C (p.Leu2429=) c.6643T>C (p.Leu2215=) c.4153T>C (p.Leu1385=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71803045T>G | CA377160889 | CDH23 | c.7630T>G (p.Leu2544Val) c.1563T>G (n.1563T>G) c.1227T>G (n.1227T>G) c.7645T>G (p.Leu2549Val) c.910T>G (p.Leu304Val) n.1166T>G c.7825T>G (p.Leu2609Val) c.7759T>G (p.Leu2587Val) c.7822T>G (p.Leu2608Val) c.7819T>G (p.Leu2607Val) c.7765T>G (p.Leu2589Val) c.7735T>G (p.Leu2579Val) c.7690T>G (p.Leu2564Val) c.7285T>G (p.Leu2429Val) c.6643T>G (p.Leu2215Val) c.4153T>G (p.Leu1385Val) | dbSNP gnomAD v4 |
10 | g.71803045T= | CA1918880446 | CDH23 | c.7630T= (p.Leu2544=) c.1563T= (n.1563T=) c.1227T= (n.1227T=) c.7645T= (p.Leu2549=) c.910T= (p.Leu304=) n.1166T= c.7825T= (p.Leu2609=) c.7759T= (p.Leu2587=) c.7822T= (p.Leu2608=) c.7819T= (p.Leu2607=) c.7765T= (p.Leu2589=) c.7735T= (p.Leu2579=) c.7690T= (p.Leu2564=) c.7285T= (p.Leu2429=) c.6643T= (p.Leu2215=) c.4153T= (p.Leu1385=) | |
10 | g.71803046T>A | CA377160890 | CDH23 | c.7631T>A (p.Leu2544Ter) c.1564T>A (n.1564T>A) c.1228T>A (n.1228T>A) c.7646T>A (p.Leu2549Ter) c.911T>A (p.Leu304Ter) n.1167T>A c.7826T>A (p.Leu2609Ter) c.7760T>A (p.Leu2587Ter) c.7823T>A (p.Leu2608Ter) c.7820T>A (p.Leu2607Ter) c.7766T>A (p.Leu2589Ter) c.7736T>A (p.Leu2579Ter) c.7691T>A (p.Leu2564Ter) c.7286T>A (p.Leu2429Ter) c.6644T>A (p.Leu2215Ter) c.4154T>A (p.Leu1385Ter) | |
10 | g.71803046T>C | CA377160892 | CDH23 | c.7631T>C (p.Leu2544Ser) c.1564T>C (n.1564T>C) c.1228T>C (n.1228T>C) c.7646T>C (p.Leu2549Ser) c.911T>C (p.Leu304Ser) n.1167T>C c.7826T>C (p.Leu2609Ser) c.7760T>C (p.Leu2587Ser) c.7823T>C (p.Leu2608Ser) c.7820T>C (p.Leu2607Ser) c.7766T>C (p.Leu2589Ser) c.7736T>C (p.Leu2579Ser) c.7691T>C (p.Leu2564Ser) c.7286T>C (p.Leu2429Ser) c.6644T>C (p.Leu2215Ser) c.4154T>C (p.Leu1385Ser) | |
10 | g.71803046T>G | CA377160894 | CDH23 | c.7631T>G (p.Leu2544Trp) c.1564T>G (n.1564T>G) c.1228T>G (n.1228T>G) c.7646T>G (p.Leu2549Trp) c.911T>G (p.Leu304Trp) n.1167T>G c.7826T>G (p.Leu2609Trp) c.7760T>G (p.Leu2587Trp) c.7823T>G (p.Leu2608Trp) c.7820T>G (p.Leu2607Trp) c.7766T>G (p.Leu2589Trp) c.7736T>G (p.Leu2579Trp) c.7691T>G (p.Leu2564Trp) c.7286T>G (p.Leu2429Trp) c.6644T>G (p.Leu2215Trp) c.4154T>G (p.Leu1385Trp) | |
10 | g.71803047G>A | CA5546391 | CDH23 | c.7632G>A (p.Leu2544=) c.1565G>A (n.1565G>A) c.1229G>A (n.1229G>A) c.7647G>A (p.Leu2549=) c.912G>A (p.Leu304=) n.1168G>A c.7827G>A (p.Leu2609=) c.7761G>A (p.Leu2587=) c.7824G>A (p.Leu2608=) c.7821G>A (p.Leu2607=) c.7767G>A (p.Leu2589=) c.7737G>A (p.Leu2579=) c.7692G>A (p.Leu2564=) c.7287G>A (p.Leu2429=) c.6645G>A (p.Leu2215=) c.4155G>A (p.Leu1385=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71803047G>C | CA377160897 | CDH23 | c.7632G>C (p.Leu2544Phe) c.1565G>C (n.1565G>C) c.1229G>C (n.1229G>C) c.7647G>C (p.Leu2549Phe) c.912G>C (p.Leu304Phe) n.1168G>C c.7827G>C (p.Leu2609Phe) c.7761G>C (p.Leu2587Phe) c.7824G>C (p.Leu2608Phe) c.7821G>C (p.Leu2607Phe) c.7767G>C (p.Leu2589Phe) c.7737G>C (p.Leu2579Phe) c.7692G>C (p.Leu2564Phe) c.7287G>C (p.Leu2429Phe) c.6645G>C (p.Leu2215Phe) c.4155G>C (p.Leu1385Phe) | ClinVar dbSNP gnomAD v4 |
10 | g.71803047G= | CA1918880447 | CDH23 | c.7632G= (p.Leu2544=) c.1565G= (n.1565G=) c.1229G= (n.1229G=) c.7647G= (p.Leu2549=) c.912G= (p.Leu304=) n.1168G= c.7827G= (p.Leu2609=) c.7761G= (p.Leu2587=) c.7824G= (p.Leu2608=) c.7821G= (p.Leu2607=) c.7767G= (p.Leu2589=) c.7737G= (p.Leu2579=) c.7692G= (p.Leu2564=) c.7287G= (p.Leu2429=) c.6645G= (p.Leu2215=) c.4155G= (p.Leu1385=) | |
10 | g.71803047G>T | CA5546390 | CDH23 | c.7632G>T (p.Leu2544Phe) c.1565G>T (n.1565G>T) c.1229G>T (n.1229G>T) c.7647G>T (p.Leu2549Phe) c.912G>T (p.Leu304Phe) n.1168G>T c.7827G>T (p.Leu2609Phe) c.7761G>T (p.Leu2587Phe) c.7824G>T (p.Leu2608Phe) c.7821G>T (p.Leu2607Phe) c.7767G>T (p.Leu2589Phe) c.7737G>T (p.Leu2579Phe) c.7692G>T (p.Leu2564Phe) c.7287G>T (p.Leu2429Phe) c.6645G>T (p.Leu2215Phe) c.4155G>T (p.Leu1385Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.71803048A= | CA1918880448 | CDH23 | c.7633A= (p.Thr2545=) c.1566A= (n.1566A=) c.1230A= (n.1230A=) c.7648A= (p.Thr2550=) c.913A= (p.Thr305=) n.1169A= c.7828A= (p.Thr2610=) c.7762A= (p.Thr2588=) c.7825A= (p.Thr2609=) c.7822A= (p.Thr2608=) c.7768A= (p.Thr2590=) c.7738A= (p.Thr2580=) c.7693A= (p.Thr2565=) c.7288A= (p.Thr2430=) c.6646A= (p.Thr2216=) c.4156A= (p.Thr1386=) | |
10 | g.71803048A>C | CA377160904 | CDH23 | c.7633A>C (p.Thr2545Pro) c.1566A>C (n.1566A>C) c.1230A>C (n.1230A>C) c.7648A>C (p.Thr2550Pro) c.913A>C (p.Thr305Pro) n.1169A>C c.7828A>C (p.Thr2610Pro) c.7762A>C (p.Thr2588Pro) c.7825A>C (p.Thr2609Pro) c.7822A>C (p.Thr2608Pro) c.7768A>C (p.Thr2590Pro) c.7738A>C (p.Thr2580Pro) c.7693A>C (p.Thr2565Pro) c.7288A>C (p.Thr2430Pro) c.6646A>C (p.Thr2216Pro) c.4156A>C (p.Thr1386Pro) | |
10 | g.71803048A>G | CA377160905 | CDH23 | c.7633A>G (p.Thr2545Ala) c.1566A>G (n.1566A>G) c.1230A>G (n.1230A>G) c.7648A>G (p.Thr2550Ala) c.913A>G (p.Thr305Ala) n.1169A>G c.7828A>G (p.Thr2610Ala) c.7762A>G (p.Thr2588Ala) c.7825A>G (p.Thr2609Ala) c.7822A>G (p.Thr2608Ala) c.7768A>G (p.Thr2590Ala) c.7738A>G (p.Thr2580Ala) c.7693A>G (p.Thr2565Ala) c.7288A>G (p.Thr2430Ala) c.6646A>G (p.Thr2216Ala) c.4156A>G (p.Thr1386Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.71803048A>T | CA377160902 | CDH23 | c.7633A>T (p.Thr2545Ser) c.1566A>T (n.1566A>T) c.1230A>T (n.1230A>T) c.7648A>T (p.Thr2550Ser) c.913A>T (p.Thr305Ser) n.1169A>T c.7828A>T (p.Thr2610Ser) c.7762A>T (p.Thr2588Ser) c.7825A>T (p.Thr2609Ser) c.7822A>T (p.Thr2608Ser) c.7768A>T (p.Thr2590Ser) c.7738A>T (p.Thr2580Ser) c.7693A>T (p.Thr2565Ser) c.7288A>T (p.Thr2430Ser) c.6646A>T (p.Thr2216Ser) c.4156A>T (p.Thr1386Ser) | |
10 | g.71803049C>A | CA377160907 | CDH23 | c.7634C>A (p.Thr2545Asn) c.1567C>A (n.1567C>A) c.1231C>A (n.1231C>A) c.7649C>A (p.Thr2550Asn) c.914C>A (p.Thr305Asn) n.1170C>A c.7829C>A (p.Thr2610Asn) c.7763C>A (p.Thr2588Asn) c.7826C>A (p.Thr2609Asn) c.7823C>A (p.Thr2608Asn) c.7769C>A (p.Thr2590Asn) c.7739C>A (p.Thr2580Asn) c.7694C>A (p.Thr2565Asn) c.7289C>A (p.Thr2430Asn) c.6647C>A (p.Thr2216Asn) c.4157C>A (p.Thr1386Asn) | |
10 | g.71803049C= | CA1918880449 | CDH23 | c.7634C= (p.Thr2545=) c.1567C= (n.1567C=) c.1231C= (n.1231C=) c.7649C= (p.Thr2550=) c.914C= (p.Thr305=) n.1170C= c.7829C= (p.Thr2610=) c.7763C= (p.Thr2588=) c.7826C= (p.Thr2609=) c.7823C= (p.Thr2608=) c.7769C= (p.Thr2590=) c.7739C= (p.Thr2580=) c.7694C= (p.Thr2565=) c.7289C= (p.Thr2430=) c.6647C= (p.Thr2216=) c.4157C= (p.Thr1386=) | |
10 | g.71803049C>G | CA209472493 | CDH23 | c.7634C>G (p.Thr2545Ser) c.1567C>G (n.1567C>G) c.1231C>G (n.1231C>G) c.7649C>G (p.Thr2550Ser) c.914C>G (p.Thr305Ser) n.1170C>G c.7829C>G (p.Thr2610Ser) c.7763C>G (p.Thr2588Ser) c.7826C>G (p.Thr2609Ser) c.7823C>G (p.Thr2608Ser) c.7769C>G (p.Thr2590Ser) c.7739C>G (p.Thr2580Ser) c.7694C>G (p.Thr2565Ser) c.7289C>G (p.Thr2430Ser) c.6647C>G (p.Thr2216Ser) c.4157C>G (p.Thr1386Ser) | dbSNP |
10 | g.71803049C>T | CA5546392 | CDH23 | c.7634C>T (p.Thr2545Ile) c.1567C>T (n.1567C>T) c.1231C>T (n.1231C>T) c.7649C>T (p.Thr2550Ile) c.914C>T (p.Thr305Ile) n.1170C>T c.7829C>T (p.Thr2610Ile) c.7763C>T (p.Thr2588Ile) c.7826C>T (p.Thr2609Ile) c.7823C>T (p.Thr2608Ile) c.7769C>T (p.Thr2590Ile) c.7739C>T (p.Thr2580Ile) c.7694C>T (p.Thr2565Ile) c.7289C>T (p.Thr2430Ile) c.6647C>T (p.Thr2216Ile) c.4157C>T (p.Thr1386Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71803050C>A | CA470062524 | CDH23 | c.7635C>A (p.Thr2545=) c.1568C>A (n.1568C>A) c.1232C>A (n.1232C>A) c.7650C>A (p.Thr2550=) c.915C>A (p.Thr305=) n.1171C>A c.7830C>A (p.Thr2610=) c.7764C>A (p.Thr2588=) c.7827C>A (p.Thr2609=) c.7824C>A (p.Thr2608=) c.7770C>A (p.Thr2590=) c.7740C>A (p.Thr2580=) c.7695C>A (p.Thr2565=) c.7290C>A (p.Thr2430=) c.6648C>A (p.Thr2216=) c.4158C>A (p.Thr1386=) | |
10 | g.71803050C= | CA1918880450 | CDH23 | c.7635C= (p.Thr2545=) c.1568C= (n.1568C=) c.1232C= (n.1232C=) c.7650C= (p.Thr2550=) c.915C= (p.Thr305=) n.1171C= c.7830C= (p.Thr2610=) c.7764C= (p.Thr2588=) c.7827C= (p.Thr2609=) c.7824C= (p.Thr2608=) c.7770C= (p.Thr2590=) c.7740C= (p.Thr2580=) c.7695C= (p.Thr2565=) c.7290C= (p.Thr2430=) c.6648C= (p.Thr2216=) c.4158C= (p.Thr1386=) | |
10 | g.71803050C>G | CA470062525 | CDH23 | c.7635C>G (p.Thr2545=) c.1568C>G (n.1568C>G) c.1232C>G (n.1232C>G) c.7650C>G (p.Thr2550=) c.915C>G (p.Thr305=) n.1171C>G c.7830C>G (p.Thr2610=) c.7764C>G (p.Thr2588=) c.7827C>G (p.Thr2609=) c.7824C>G (p.Thr2608=) c.7770C>G (p.Thr2590=) c.7740C>G (p.Thr2580=) c.7695C>G (p.Thr2565=) c.7290C>G (p.Thr2430=) c.6648C>G (p.Thr2216=) c.4158C>G (p.Thr1386=) | |
10 | g.71803050C>T | CA209472501 | CDH23 | c.7635C>T (p.Thr2545=) c.1568C>T (n.1568C>T) c.1232C>T (n.1232C>T) c.7650C>T (p.Thr2550=) c.915C>T (p.Thr305=) n.1171C>T c.7830C>T (p.Thr2610=) c.7764C>T (p.Thr2588=) c.7827C>T (p.Thr2609=) c.7824C>T (p.Thr2608=) c.7770C>T (p.Thr2590=) c.7740C>T (p.Thr2580=) c.7695C>T (p.Thr2565=) c.7290C>T (p.Thr2430=) c.6648C>T (p.Thr2216=) c.4158C>T (p.Thr1386=) | ClinVar dbSNP |
10 | g.71803051T>A | CA377160909 | CDH23 | c.7636T>A (p.Tyr2546Asn) c.1569T>A (n.1569T>A) c.1233T>A (n.1233T>A) c.7651T>A (p.Tyr2551Asn) c.916T>A (p.Tyr306Asn) n.1172T>A c.7831T>A (p.Tyr2611Asn) c.7765T>A (p.Tyr2589Asn) c.7828T>A (p.Tyr2610Asn) c.7825T>A (p.Tyr2609Asn) c.7771T>A (p.Tyr2591Asn) c.7741T>A (p.Tyr2581Asn) c.7696T>A (p.Tyr2566Asn) c.7291T>A (p.Tyr2431Asn) c.6649T>A (p.Tyr2217Asn) c.4159T>A (p.Tyr1387Asn) | |
10 | g.71803051T>C | CA377160910 | CDH23 | c.7636T>C (p.Tyr2546His) c.1569T>C (n.1569T>C) c.1233T>C (n.1233T>C) c.7651T>C (p.Tyr2551His) c.916T>C (p.Tyr306His) n.1172T>C c.7831T>C (p.Tyr2611His) c.7765T>C (p.Tyr2589His) c.7828T>C (p.Tyr2610His) c.7825T>C (p.Tyr2609His) c.7771T>C (p.Tyr2591His) c.7741T>C (p.Tyr2581His) c.7696T>C (p.Tyr2566His) c.7291T>C (p.Tyr2431His) c.6649T>C (p.Tyr2217His) c.4159T>C (p.Tyr1387His) | gnomAD v4 |
10 | g.71803051T>G | CA377160911 | CDH23 | c.7636T>G (p.Tyr2546Asp) c.1569T>G (n.1569T>G) c.1233T>G (n.1233T>G) c.7651T>G (p.Tyr2551Asp) c.916T>G (p.Tyr306Asp) n.1172T>G c.7831T>G (p.Tyr2611Asp) c.7765T>G (p.Tyr2589Asp) c.7828T>G (p.Tyr2610Asp) c.7825T>G (p.Tyr2609Asp) c.7771T>G (p.Tyr2591Asp) c.7741T>G (p.Tyr2581Asp) c.7696T>G (p.Tyr2566Asp) c.7291T>G (p.Tyr2431Asp) c.6649T>G (p.Tyr2217Asp) c.4159T>G (p.Tyr1387Asp) | |
10 | g.71803052A>C | CA377160914 | CDH23 | c.7637A>C (p.Tyr2546Ser) c.1570A>C (n.1570A>C) c.1234A>C (n.1234A>C) c.7652A>C (p.Tyr2551Ser) c.917A>C (p.Tyr306Ser) n.1173A>C c.7832A>C (p.Tyr2611Ser) c.7766A>C (p.Tyr2589Ser) c.7829A>C (p.Tyr2610Ser) c.7826A>C (p.Tyr2609Ser) c.7772A>C (p.Tyr2591Ser) c.7742A>C (p.Tyr2581Ser) c.7697A>C (p.Tyr2566Ser) c.7292A>C (p.Tyr2431Ser) c.6650A>C (p.Tyr2217Ser) c.4160A>C (p.Tyr1387Ser) | |
10 | g.71803052A>G | CA377160912 | CDH23 | c.7637A>G (p.Tyr2546Cys) c.1570A>G (n.1570A>G) c.1234A>G (n.1234A>G) c.7652A>G (p.Tyr2551Cys) c.917A>G (p.Tyr306Cys) n.1173A>G c.7832A>G (p.Tyr2611Cys) c.7766A>G (p.Tyr2589Cys) c.7829A>G (p.Tyr2610Cys) c.7826A>G (p.Tyr2609Cys) c.7772A>G (p.Tyr2591Cys) c.7742A>G (p.Tyr2581Cys) c.7697A>G (p.Tyr2566Cys) c.7292A>G (p.Tyr2431Cys) c.6650A>G (p.Tyr2217Cys) c.4160A>G (p.Tyr1387Cys) | gnomAD v4 |
10 | g.71803052A>T | CA377160913 | CDH23 | c.7637A>T (p.Tyr2546Phe) c.1570A>T (n.1570A>T) c.1234A>T (n.1234A>T) c.7652A>T (p.Tyr2551Phe) c.917A>T (p.Tyr306Phe) n.1173A>T c.7832A>T (p.Tyr2611Phe) c.7766A>T (p.Tyr2589Phe) c.7829A>T (p.Tyr2610Phe) c.7826A>T (p.Tyr2609Phe) c.7772A>T (p.Tyr2591Phe) c.7742A>T (p.Tyr2581Phe) c.7697A>T (p.Tyr2566Phe) c.7292A>T (p.Tyr2431Phe) c.6650A>T (p.Tyr2217Phe) c.4160A>T (p.Tyr1387Phe) | |
10 | g.71803053C>A | CA377160916 | CDH23 | c.7638C>A (p.Tyr2546Ter) c.1571C>A (n.1571C>A) c.1235C>A (n.1235C>A) c.7653C>A (p.Tyr2551Ter) c.918C>A (p.Tyr306Ter) n.1174C>A c.7833C>A (p.Tyr2611Ter) c.7767C>A (p.Tyr2589Ter) c.7830C>A (p.Tyr2610Ter) c.7827C>A (p.Tyr2609Ter) c.7773C>A (p.Tyr2591Ter) c.7743C>A (p.Tyr2581Ter) c.7698C>A (p.Tyr2566Ter) c.7293C>A (p.Tyr2431Ter) c.6651C>A (p.Tyr2217Ter) c.4161C>A (p.Tyr1387Ter) | |
10 | g.71803053C= | CA1918880451 | CDH23 | c.7638C= (p.Tyr2546=) c.1571C= (n.1571C=) c.1235C= (n.1235C=) c.7653C= (p.Tyr2551=) c.918C= (p.Tyr306=) n.1174C= c.7833C= (p.Tyr2611=) c.7767C= (p.Tyr2589=) c.7830C= (p.Tyr2610=) c.7827C= (p.Tyr2609=) c.7773C= (p.Tyr2591=) c.7743C= (p.Tyr2581=) c.7698C= (p.Tyr2566=) c.7293C= (p.Tyr2431=) c.6651C= (p.Tyr2217=) c.4161C= (p.Tyr1387=) | |
10 | g.71803053C>G | CA377160917 | CDH23 | c.7638C>G (p.Tyr2546Ter) c.1571C>G (n.1571C>G) c.1235C>G (n.1235C>G) c.7653C>G (p.Tyr2551Ter) c.918C>G (p.Tyr306Ter) n.1174C>G c.7833C>G (p.Tyr2611Ter) c.7767C>G (p.Tyr2589Ter) c.7830C>G (p.Tyr2610Ter) c.7827C>G (p.Tyr2609Ter) c.7773C>G (p.Tyr2591Ter) c.7743C>G (p.Tyr2581Ter) c.7698C>G (p.Tyr2566Ter) c.7293C>G (p.Tyr2431Ter) c.6651C>G (p.Tyr2217Ter) c.4161C>G (p.Tyr1387Ter) | |
10 | g.71803053C>T | CA5546393 | CDH23 | c.7638C>T (p.Tyr2546=) c.1571C>T (n.1571C>T) c.1235C>T (n.1235C>T) c.7653C>T (p.Tyr2551=) c.918C>T (p.Tyr306=) n.1174C>T c.7833C>T (p.Tyr2611=) c.7767C>T (p.Tyr2589=) c.7830C>T (p.Tyr2610=) c.7827C>T (p.Tyr2609=) c.7773C>T (p.Tyr2591=) c.7743C>T (p.Tyr2581=) c.7698C>T (p.Tyr2566=) c.7293C>T (p.Tyr2431=) c.6651C>T (p.Tyr2217=) c.4161C>T (p.Tyr1387=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71803054T>A | CA377160923 | CDH23 | c.7639T>A (p.Ser2547Thr) c.1572T>A (n.1572T>A) c.1236T>A (n.1236T>A) c.7654T>A (p.Ser2552Thr) c.919T>A (p.Ser307Thr) n.1175T>A c.7834T>A (p.Ser2612Thr) c.7768T>A (p.Ser2590Thr) c.7831T>A (p.Ser2611Thr) c.7828T>A (p.Ser2610Thr) c.7774T>A (p.Ser2592Thr) c.7744T>A (p.Ser2582Thr) c.7699T>A (p.Ser2567Thr) c.7294T>A (p.Ser2432Thr) c.6652T>A (p.Ser2218Thr) c.4162T>A (p.Ser1388Thr) | |
10 | g.71803054T>C | CA377160925 | CDH23 | c.7639T>C (p.Ser2547Pro) c.1572T>C (n.1572T>C) c.1236T>C (n.1236T>C) c.7654T>C (p.Ser2552Pro) c.919T>C (p.Ser307Pro) n.1175T>C c.7834T>C (p.Ser2612Pro) c.7768T>C (p.Ser2590Pro) c.7831T>C (p.Ser2611Pro) c.7828T>C (p.Ser2610Pro) c.7774T>C (p.Ser2592Pro) c.7744T>C (p.Ser2582Pro) c.7699T>C (p.Ser2567Pro) c.7294T>C (p.Ser2432Pro) c.6652T>C (p.Ser2218Pro) c.4162T>C (p.Ser1388Pro) | |
10 | g.71803054T>G | CA377160926 | CDH23 | c.7639T>G (p.Ser2547Ala) c.1572T>G (n.1572T>G) c.1236T>G (n.1236T>G) c.7654T>G (p.Ser2552Ala) c.919T>G (p.Ser307Ala) n.1175T>G c.7834T>G (p.Ser2612Ala) c.7768T>G (p.Ser2590Ala) c.7831T>G (p.Ser2611Ala) c.7828T>G (p.Ser2610Ala) c.7774T>G (p.Ser2592Ala) c.7744T>G (p.Ser2582Ala) c.7699T>G (p.Ser2567Ala) c.7294T>G (p.Ser2432Ala) c.6652T>G (p.Ser2218Ala) c.4162T>G (p.Ser1388Ala) | |
10 | g.71803055C>A | CA377160927 | CDH23 | c.7640C>A (p.Ser2547Ter) c.1573C>A (n.1573C>A) c.1237C>A (n.1237C>A) c.7655C>A (p.Ser2552Ter) c.920C>A (p.Ser307Ter) n.1176C>A c.7835C>A (p.Ser2612Ter) c.7769C>A (p.Ser2590Ter) c.7832C>A (p.Ser2611Ter) c.7829C>A (p.Ser2610Ter) c.7775C>A (p.Ser2592Ter) c.7745C>A (p.Ser2582Ter) c.7700C>A (p.Ser2567Ter) c.7295C>A (p.Ser2432Ter) c.6653C>A (p.Ser2218Ter) c.4163C>A (p.Ser1388Ter) | |
10 | g.71803055C>G | CA377160929 | CDH23 | c.7640C>G (p.Ser2547Ter) c.1573C>G (n.1573C>G) c.1237C>G (n.1237C>G) c.7655C>G (p.Ser2552Ter) c.920C>G (p.Ser307Ter) n.1176C>G c.7835C>G (p.Ser2612Ter) c.7769C>G (p.Ser2590Ter) c.7832C>G (p.Ser2611Ter) c.7829C>G (p.Ser2610Ter) c.7775C>G (p.Ser2592Ter) c.7745C>G (p.Ser2582Ter) c.7700C>G (p.Ser2567Ter) c.7295C>G (p.Ser2432Ter) c.6653C>G (p.Ser2218Ter) c.4163C>G (p.Ser1388Ter) | |
10 | g.71803055C>T | CA377160928 | CDH23 | c.7640C>T (p.Ser2547Leu) c.1573C>T (n.1573C>T) c.1237C>T (n.1237C>T) c.7655C>T (p.Ser2552Leu) c.920C>T (p.Ser307Leu) n.1176C>T c.7835C>T (p.Ser2612Leu) c.7769C>T (p.Ser2590Leu) c.7832C>T (p.Ser2611Leu) c.7829C>T (p.Ser2610Leu) c.7775C>T (p.Ser2592Leu) c.7745C>T (p.Ser2582Leu) c.7700C>T (p.Ser2567Leu) c.7295C>T (p.Ser2432Leu) c.6653C>T (p.Ser2218Leu) c.4163C>T (p.Ser1388Leu) | gnomAD v4 |
10 | g.71803056A>C | CA470062526 | CDH23 | c.7641A>C (p.Ser2547=) c.1574A>C (n.1574A>C) c.1238A>C (n.1238A>C) c.7656A>C (p.Ser2552=) c.921A>C (p.Ser307=) n.1177A>C c.7836A>C (p.Ser2612=) c.7770A>C (p.Ser2590=) c.7833A>C (p.Ser2611=) c.7830A>C (p.Ser2610=) c.7776A>C (p.Ser2592=) c.7746A>C (p.Ser2582=) c.7701A>C (p.Ser2567=) c.7296A>C (p.Ser2432=) c.6654A>C (p.Ser2218=) c.4164A>C (p.Ser1388=) | |
10 | g.71803056A>G | CA470062527 | CDH23 | c.7641A>G (p.Ser2547=) c.1574A>G (n.1574A>G) c.1238A>G (n.1238A>G) c.7656A>G (p.Ser2552=) c.921A>G (p.Ser307=) n.1177A>G c.7836A>G (p.Ser2612=) c.7770A>G (p.Ser2590=) c.7833A>G (p.Ser2611=) c.7830A>G (p.Ser2610=) c.7776A>G (p.Ser2592=) c.7746A>G (p.Ser2582=) c.7701A>G (p.Ser2567=) c.7296A>G (p.Ser2432=) c.6654A>G (p.Ser2218=) c.4164A>G (p.Ser1388=) | |
10 | g.71803056A>T | CA470062528 | CDH23 | c.7641A>T (p.Ser2547=) c.1574A>T (n.1574A>T) c.1238A>T (n.1238A>T) c.7656A>T (p.Ser2552=) c.921A>T (p.Ser307=) n.1177A>T c.7836A>T (p.Ser2612=) c.7770A>T (p.Ser2590=) c.7833A>T (p.Ser2611=) c.7830A>T (p.Ser2610=) c.7776A>T (p.Ser2592=) c.7746A>T (p.Ser2582=) c.7701A>T (p.Ser2567=) c.7296A>T (p.Ser2432=) c.6654A>T (p.Ser2218=) c.4164A>T (p.Ser1388=) | |
10 | g.71803056_71803059del | CA2609580412 | CDH23 | c.7641_7644del (p.Leu2548ArgfsTer17) c.1574_1577del (n.1574_1577del) c.1238_1241del (n.1238_1241del) c.7656_7659del (p.Leu2553ArgfsTer17) c.921_924del (p.Leu308ArgfsTer17) n.1177_1180del c.7836_7839del (p.Leu2613ArgfsTer17) c.7770_7773del (p.Leu2591ArgfsTer17) c.7833_7836del (p.Leu2612ArgfsTer17) c.7830_7833del (p.Leu2611ArgfsTer17) c.7776_7779del (p.Leu2593ArgfsTer17) c.7746_7749del (p.Leu2583ArgfsTer17) c.7701_7704del (p.Leu2568ArgfsTer17) c.7296_7299del (p.Leu2433ArgfsTer17) c.6654_6657del (p.Leu2219ArgfsTer17) c.4164_4167del (p.Leu1389ArgfsTer17) | gnomAD v4 |
10 | g.71803057C>A | CA5546394 | CDH23 | c.7642C>A (p.Leu2548Ile) c.1575C>A (n.1575C>A) c.1239C>A (n.1239C>A) c.7657C>A (p.Leu2553Ile) c.922C>A (p.Leu308Ile) n.1178C>A c.7837C>A (p.Leu2613Ile) c.7771C>A (p.Leu2591Ile) c.7834C>A (p.Leu2612Ile) c.7831C>A (p.Leu2611Ile) c.7777C>A (p.Leu2593Ile) c.7747C>A (p.Leu2583Ile) c.7702C>A (p.Leu2568Ile) c.7297C>A (p.Leu2433Ile) c.6655C>A (p.Leu2219Ile) c.4165C>A (p.Leu1389Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71803057C= | CA1918880452 | CDH23 | c.7642C= (p.Leu2548=) c.1575C= (n.1575C=) c.1239C= (n.1239C=) c.7657C= (p.Leu2553=) c.922C= (p.Leu308=) n.1178C= c.7837C= (p.Leu2613=) c.7771C= (p.Leu2591=) c.7834C= (p.Leu2612=) c.7831C= (p.Leu2611=) c.7777C= (p.Leu2593=) c.7747C= (p.Leu2583=) c.7702C= (p.Leu2568=) c.7297C= (p.Leu2433=) c.6655C= (p.Leu2219=) c.4165C= (p.Leu1389=) | |
10 | g.71803057C>G | CA377160930 | CDH23 | c.7642C>G (p.Leu2548Val) c.1575C>G (n.1575C>G) c.1239C>G (n.1239C>G) c.7657C>G (p.Leu2553Val) c.922C>G (p.Leu308Val) n.1178C>G c.7837C>G (p.Leu2613Val) c.7771C>G (p.Leu2591Val) c.7834C>G (p.Leu2612Val) c.7831C>G (p.Leu2611Val) c.7777C>G (p.Leu2593Val) c.7747C>G (p.Leu2583Val) c.7702C>G (p.Leu2568Val) c.7297C>G (p.Leu2433Val) c.6655C>G (p.Leu2219Val) c.4165C>G (p.Leu1389Val) | |
10 | g.71803057C>T | CA377160931 | CDH23 | c.7642C>T (p.Leu2548Phe) c.1575C>T (n.1575C>T) c.1239C>T (n.1239C>T) c.7657C>T (p.Leu2553Phe) c.922C>T (p.Leu308Phe) n.1178C>T c.7837C>T (p.Leu2613Phe) c.7771C>T (p.Leu2591Phe) c.7834C>T (p.Leu2612Phe) c.7831C>T (p.Leu2611Phe) c.7777C>T (p.Leu2593Phe) c.7747C>T (p.Leu2583Phe) c.7702C>T (p.Leu2568Phe) c.7297C>T (p.Leu2433Phe) c.6655C>T (p.Leu2219Phe) c.4165C>T (p.Leu1389Phe) | gnomAD v4 |
10 | g.71803058T>A | CA377160935 | CDH23 | c.7643T>A (p.Leu2548His) c.1576T>A (n.1576T>A) c.1240T>A (n.1240T>A) c.7658T>A (p.Leu2553His) c.923T>A (p.Leu308His) n.1179T>A c.7838T>A (p.Leu2613His) c.7772T>A (p.Leu2591His) c.7835T>A (p.Leu2612His) c.7832T>A (p.Leu2611His) c.7778T>A (p.Leu2593His) c.7748T>A (p.Leu2583His) c.7703T>A (p.Leu2568His) c.7298T>A (p.Leu2433His) c.6656T>A (p.Leu2219His) c.4166T>A (p.Leu1389His) | |
10 | g.71803058T>C | CA377160937 | CDH23 | c.7643T>C (p.Leu2548Pro) c.1576T>C (n.1576T>C) c.1240T>C (n.1240T>C) c.7658T>C (p.Leu2553Pro) c.923T>C (p.Leu308Pro) n.1179T>C c.7838T>C (p.Leu2613Pro) c.7772T>C (p.Leu2591Pro) c.7835T>C (p.Leu2612Pro) c.7832T>C (p.Leu2611Pro) c.7778T>C (p.Leu2593Pro) c.7748T>C (p.Leu2583Pro) c.7703T>C (p.Leu2568Pro) c.7298T>C (p.Leu2433Pro) c.6656T>C (p.Leu2219Pro) c.4166T>C (p.Leu1389Pro) | dbSNP |
10 | g.71803058T>G | CA377160939 | CDH23 | c.7643T>G (p.Leu2548Arg) c.1576T>G (n.1576T>G) c.1240T>G (n.1240T>G) c.7658T>G (p.Leu2553Arg) c.923T>G (p.Leu308Arg) n.1179T>G c.7838T>G (p.Leu2613Arg) c.7772T>G (p.Leu2591Arg) c.7835T>G (p.Leu2612Arg) c.7832T>G (p.Leu2611Arg) c.7778T>G (p.Leu2593Arg) c.7748T>G (p.Leu2583Arg) c.7703T>G (p.Leu2568Arg) c.7298T>G (p.Leu2433Arg) c.6656T>G (p.Leu2219Arg) c.4166T>G (p.Leu1389Arg) | |
10 | g.71803058T= | CA1918880453 | CDH23 | c.7643T= (p.Leu2548=) c.1576T= (n.1576T=) c.1240T= (n.1240T=) c.7658T= (p.Leu2553=) c.923T= (p.Leu308=) n.1179T= c.7838T= (p.Leu2613=) c.7772T= (p.Leu2591=) c.7835T= (p.Leu2612=) c.7832T= (p.Leu2611=) c.7778T= (p.Leu2593=) c.7748T= (p.Leu2583=) c.7703T= (p.Leu2568=) c.7298T= (p.Leu2433=) c.6656T= (p.Leu2219=) c.4166T= (p.Leu1389=) | |
10 | g.71803059T>A | CA470062531 | CDH23 | c.7644T>A (p.Leu2548=) c.1577T>A (n.1577T>A) c.1241T>A (n.1241T>A) c.7659T>A (p.Leu2553=) c.924T>A (p.Leu308=) n.1180T>A c.7839T>A (p.Leu2613=) c.7773T>A (p.Leu2591=) c.7836T>A (p.Leu2612=) c.7833T>A (p.Leu2611=) c.7779T>A (p.Leu2593=) c.7749T>A (p.Leu2583=) c.7704T>A (p.Leu2568=) c.7299T>A (p.Leu2433=) c.6657T>A (p.Leu2219=) c.4167T>A (p.Leu1389=) | |
10 | g.71803059T>C | CA470062529 | CDH23 | c.7644T>C (p.Leu2548=) c.1577T>C (n.1577T>C) c.1241T>C (n.1241T>C) c.7659T>C (p.Leu2553=) c.924T>C (p.Leu308=) n.1180T>C c.7839T>C (p.Leu2613=) c.7773T>C (p.Leu2591=) c.7836T>C (p.Leu2612=) c.7833T>C (p.Leu2611=) c.7779T>C (p.Leu2593=) c.7749T>C (p.Leu2583=) c.7704T>C (p.Leu2568=) c.7299T>C (p.Leu2433=) c.6657T>C (p.Leu2219=) c.4167T>C (p.Leu1389=) | |
10 | g.71803059T>G | CA470062530 | CDH23 | c.7644T>G (p.Leu2548=) c.1577T>G (n.1577T>G) c.1241T>G (n.1241T>G) c.7659T>G (p.Leu2553=) c.924T>G (p.Leu308=) n.1180T>G c.7839T>G (p.Leu2613=) c.7773T>G (p.Leu2591=) c.7836T>G (p.Leu2612=) c.7833T>G (p.Leu2611=) c.7779T>G (p.Leu2593=) c.7749T>G (p.Leu2583=) c.7704T>G (p.Leu2568=) c.7299T>G (p.Leu2433=) c.6657T>G (p.Leu2219=) c.4167T>G (p.Leu1389=) | |
10 | g.71803060G>A | CA377160941 | CDH23 | c.7645G>A (p.Glu2549Lys) c.1578G>A (n.1578G>A) c.1242G>A (n.1242G>A) c.7660G>A (p.Glu2554Lys) c.925G>A (p.Glu309Lys) n.1181G>A c.7840G>A (p.Glu2614Lys) c.7774G>A (p.Glu2592Lys) c.7837G>A (p.Glu2613Lys) c.7834G>A (p.Glu2612Lys) c.7780G>A (p.Glu2594Lys) c.7750G>A (p.Glu2584Lys) c.7705G>A (p.Glu2569Lys) c.7300G>A (p.Glu2434Lys) c.6658G>A (p.Glu2220Lys) c.4168G>A (p.Glu1390Lys) | |
10 | g.71803060G>C | CA377160942 | CDH23 | c.7645G>C (p.Glu2549Gln) c.1578G>C (n.1578G>C) c.1242G>C (n.1242G>C) c.7660G>C (p.Glu2554Gln) c.925G>C (p.Glu309Gln) n.1181G>C c.7840G>C (p.Glu2614Gln) c.7774G>C (p.Glu2592Gln) c.7837G>C (p.Glu2613Gln) c.7834G>C (p.Glu2612Gln) c.7780G>C (p.Glu2594Gln) c.7750G>C (p.Glu2584Gln) c.7705G>C (p.Glu2569Gln) c.7300G>C (p.Glu2434Gln) c.6658G>C (p.Glu2220Gln) c.4168G>C (p.Glu1390Gln) | |
10 | g.71803060G>T | CA377160944 | CDH23 | c.7645G>T (p.Glu2549Ter) c.1578G>T (n.1578G>T) c.1242G>T (n.1242G>T) c.7660G>T (p.Glu2554Ter) c.925G>T (p.Glu309Ter) n.1181G>T c.7840G>T (p.Glu2614Ter) c.7774G>T (p.Glu2592Ter) c.7837G>T (p.Glu2613Ter) c.7834G>T (p.Glu2612Ter) c.7780G>T (p.Glu2594Ter) c.7750G>T (p.Glu2584Ter) c.7705G>T (p.Glu2569Ter) c.7300G>T (p.Glu2434Ter) c.6658G>T (p.Glu2220Ter) c.4168G>T (p.Glu1390Ter) | |
10 | g.71803061A>C | CA377160946 | CDH23 | c.7646A>C (p.Glu2549Ala) c.1579A>C (n.1579A>C) c.1243A>C (n.1243A>C) c.7661A>C (p.Glu2554Ala) c.926A>C (p.Glu309Ala) n.1182A>C c.7841A>C (p.Glu2614Ala) c.7775A>C (p.Glu2592Ala) c.7838A>C (p.Glu2613Ala) c.7835A>C (p.Glu2612Ala) c.7781A>C (p.Glu2594Ala) c.7751A>C (p.Glu2584Ala) c.7706A>C (p.Glu2569Ala) c.7301A>C (p.Glu2434Ala) c.6659A>C (p.Glu2220Ala) c.4169A>C (p.Glu1390Ala) | |
10 | g.71803061A>G | CA377160949 | CDH23 | c.7646A>G (p.Glu2549Gly) c.1579A>G (n.1579A>G) c.1243A>G (n.1243A>G) c.7661A>G (p.Glu2554Gly) c.926A>G (p.Glu309Gly) n.1182A>G c.7841A>G (p.Glu2614Gly) c.7775A>G (p.Glu2592Gly) c.7838A>G (p.Glu2613Gly) c.7835A>G (p.Glu2612Gly) c.7781A>G (p.Glu2594Gly) c.7751A>G (p.Glu2584Gly) c.7706A>G (p.Glu2569Gly) c.7301A>G (p.Glu2434Gly) c.6659A>G (p.Glu2220Gly) c.4169A>G (p.Glu1390Gly) | |
10 | g.71803061A>T | CA377160954 | CDH23 | c.7646A>T (p.Glu2549Val) c.1579A>T (n.1579A>T) c.1243A>T (n.1243A>T) c.7661A>T (p.Glu2554Val) c.926A>T (p.Glu309Val) n.1182A>T c.7841A>T (p.Glu2614Val) c.7775A>T (p.Glu2592Val) c.7838A>T (p.Glu2613Val) c.7835A>T (p.Glu2612Val) c.7781A>T (p.Glu2594Val) c.7751A>T (p.Glu2584Val) c.7706A>T (p.Glu2569Val) c.7301A>T (p.Glu2434Val) c.6659A>T (p.Glu2220Val) c.4169A>T (p.Glu1390Val) | COSMIC |
10 | g.71803062G>A | CA5546395 | CDH23 | c.7647G>A (p.Glu2549=) c.1580G>A (n.1580G>A) c.1244G>A (n.1244G>A) c.7662G>A (p.Glu2554=) c.927G>A (p.Glu309=) n.1183G>A c.7842G>A (p.Glu2614=) c.7776G>A (p.Glu2592=) c.7839G>A (p.Glu2613=) c.7836G>A (p.Glu2612=) c.7782G>A (p.Glu2594=) c.7752G>A (p.Glu2584=) c.7707G>A (p.Glu2569=) c.7302G>A (p.Glu2434=) c.6660G>A (p.Glu2220=) c.4170G>A (p.Glu1390=) | dbSNP ExAC gnomAD v4 |
10 | g.71803062G>C | CA377160956 | CDH23 | c.7647G>C (p.Glu2549Asp) c.1580G>C (n.1580G>C) c.1244G>C (n.1244G>C) c.7662G>C (p.Glu2554Asp) c.927G>C (p.Glu309Asp) n.1183G>C c.7842G>C (p.Glu2614Asp) c.7776G>C (p.Glu2592Asp) c.7839G>C (p.Glu2613Asp) c.7836G>C (p.Glu2612Asp) c.7782G>C (p.Glu2594Asp) c.7752G>C (p.Glu2584Asp) c.7707G>C (p.Glu2569Asp) c.7302G>C (p.Glu2434Asp) c.6660G>C (p.Glu2220Asp) c.4170G>C (p.Glu1390Asp) | ClinVar dbSNP |
10 | g.71803062G= | CA1918880454 | CDH23 | c.7647G= (p.Glu2549=) c.1580G= (n.1580G=) c.1244G= (n.1244G=) c.7662G= (p.Glu2554=) c.927G= (p.Glu309=) n.1183G= c.7842G= (p.Glu2614=) c.7776G= (p.Glu2592=) c.7839G= (p.Glu2613=) c.7836G= (p.Glu2612=) c.7782G= (p.Glu2594=) c.7752G= (p.Glu2584=) c.7707G= (p.Glu2569=) c.7302G= (p.Glu2434=) c.6660G= (p.Glu2220=) c.4170G= (p.Glu1390=) | |
10 | g.71803062G>T | CA377160958 | CDH23 | c.7647G>T (p.Glu2549Asp) c.1580G>T (n.1580G>T) c.1244G>T (n.1244G>T) c.7662G>T (p.Glu2554Asp) c.927G>T (p.Glu309Asp) n.1183G>T c.7842G>T (p.Glu2614Asp) c.7776G>T (p.Glu2592Asp) c.7839G>T (p.Glu2613Asp) c.7836G>T (p.Glu2612Asp) c.7782G>T (p.Glu2594Asp) c.7752G>T (p.Glu2584Asp) c.7707G>T (p.Glu2569Asp) c.7302G>T (p.Glu2434Asp) c.6660G>T (p.Glu2220Asp) c.4170G>T (p.Glu1390Asp) | |
10 | g.71803063G>A | CA377160962 | CDH23 | c.7648G>A (p.Gly2550Ser) c.1581G>A (n.1581G>A) c.1245G>A (n.1245G>A) c.7663G>A (p.Gly2555Ser) c.928G>A (p.Gly310Ser) n.1184G>A c.7843G>A (p.Gly2615Ser) c.7777G>A (p.Gly2593Ser) c.7840G>A (p.Gly2614Ser) c.7837G>A (p.Gly2613Ser) c.7783G>A (p.Gly2595Ser) c.7753G>A (p.Gly2585Ser) c.7708G>A (p.Gly2570Ser) c.7303G>A (p.Gly2435Ser) c.6661G>A (p.Gly2221Ser) c.4171G>A (p.Gly1391Ser) | COSMIC |
10 | g.71803063G>C | CA377160971 | CDH23 | c.7648G>C (p.Gly2550Arg) c.1581G>C (n.1581G>C) c.1245G>C (n.1245G>C) c.7663G>C (p.Gly2555Arg) c.928G>C (p.Gly310Arg) n.1184G>C c.7843G>C (p.Gly2615Arg) c.7777G>C (p.Gly2593Arg) c.7840G>C (p.Gly2614Arg) c.7837G>C (p.Gly2613Arg) c.7783G>C (p.Gly2595Arg) c.7753G>C (p.Gly2585Arg) c.7708G>C (p.Gly2570Arg) c.7303G>C (p.Gly2435Arg) c.6661G>C (p.Gly2221Arg) c.4171G>C (p.Gly1391Arg) | |
10 | g.71803063G>T | CA377160973 | CDH23 | c.7648G>T (p.Gly2550Cys) c.1581G>T (n.1581G>T) c.1245G>T (n.1245G>T) c.7663G>T (p.Gly2555Cys) c.928G>T (p.Gly310Cys) n.1184G>T c.7843G>T (p.Gly2615Cys) c.7777G>T (p.Gly2593Cys) c.7840G>T (p.Gly2614Cys) c.7837G>T (p.Gly2613Cys) c.7783G>T (p.Gly2595Cys) c.7753G>T (p.Gly2585Cys) c.7708G>T (p.Gly2570Cys) c.7303G>T (p.Gly2435Cys) c.6661G>T (p.Gly2221Cys) c.4171G>T (p.Gly1391Cys) | |
10 | g.71803064G>A | CA377160974 | CDH23 | c.7649G>A (p.Gly2550Asp) c.1582G>A (n.1582G>A) c.1246G>A (n.1246G>A) c.7664G>A (p.Gly2555Asp) c.929G>A (p.Gly310Asp) n.1185G>A c.7844G>A (p.Gly2615Asp) c.7778G>A (p.Gly2593Asp) c.7841G>A (p.Gly2614Asp) c.7838G>A (p.Gly2613Asp) c.7784G>A (p.Gly2595Asp) c.7754G>A (p.Gly2585Asp) c.7709G>A (p.Gly2570Asp) c.7304G>A (p.Gly2435Asp) c.6662G>A (p.Gly2221Asp) c.4172G>A (p.Gly1391Asp) | gnomAD v4 |
10 | g.71803064G>C | CA377160975 | CDH23 | c.7649G>C (p.Gly2550Ala) c.1582G>C (n.1582G>C) c.1246G>C (n.1246G>C) c.7664G>C (p.Gly2555Ala) c.929G>C (p.Gly310Ala) n.1185G>C c.7844G>C (p.Gly2615Ala) c.7778G>C (p.Gly2593Ala) c.7841G>C (p.Gly2614Ala) c.7838G>C (p.Gly2613Ala) c.7784G>C (p.Gly2595Ala) c.7754G>C (p.Gly2585Ala) c.7709G>C (p.Gly2570Ala) c.7304G>C (p.Gly2435Ala) c.6662G>C (p.Gly2221Ala) c.4172G>C (p.Gly1391Ala) | |
10 | g.71803064G>T | CA377160976 | CDH23 | c.7649G>T (p.Gly2550Val) c.1582G>T (n.1582G>T) c.1246G>T (n.1246G>T) c.7664G>T (p.Gly2555Val) c.929G>T (p.Gly310Val) n.1185G>T c.7844G>T (p.Gly2615Val) c.7778G>T (p.Gly2593Val) c.7841G>T (p.Gly2614Val) c.7838G>T (p.Gly2613Val) c.7784G>T (p.Gly2595Val) c.7754G>T (p.Gly2585Val) c.7709G>T (p.Gly2570Val) c.7304G>T (p.Gly2435Val) c.6662G>T (p.Gly2221Val) c.4172G>T (p.Gly1391Val) | COSMIC |
10 | g.71803064_71803065delinsGC | CA1918880455 | CDH23 | c.7649_7650delinsGC (p.Gly2550=) c.1582_1583delinsGC (n.1582_1583delinsGC) c.1246_1247delinsGC (n.1246_1247delinsGC) c.7664_7665delinsGC (p.Gly2555=) c.929_930delinsGC (p.Gly310=) n.1185_1186delinsGC c.7844_7845delinsGC (p.Gly2615=) c.7778_7779delinsGC (p.Gly2593=) c.7841_7842delinsGC (p.Gly2614=) c.7838_7839delinsGC (p.Gly2613=) c.7784_7785delinsGC (p.Gly2595=) c.7754_7755delinsGC (p.Gly2585=) c.7709_7710delinsGC (p.Gly2570=) c.7304_7305delinsGC (p.Gly2435=) c.6662_6663delinsGC (p.Gly2221=) c.4172_4173delinsGC (p.Gly1391=) | |
10 | g.71803065C>A | CA470062532 | CDH23 | c.7650C>A (p.Gly2550=) c.1583C>A (n.1583C>A) c.1247C>A (n.1247C>A) c.7665C>A (p.Gly2555=) c.930C>A (p.Gly310=) n.1186C>A c.7845C>A (p.Gly2615=) c.7779C>A (p.Gly2593=) c.7842C>A (p.Gly2614=) c.7839C>A (p.Gly2613=) c.7785C>A (p.Gly2595=) c.7755C>A (p.Gly2585=) c.7710C>A (p.Gly2570=) c.7305C>A (p.Gly2435=) c.6663C>A (p.Gly2221=) c.4173C>A (p.Gly1391=) | ClinVar dbSNP |
10 | g.71803065C= | CA1918880457 | CDH23 | c.7650C= (p.Gly2550=) c.1583C= (n.1583C=) c.1247C= (n.1247C=) c.7665C= (p.Gly2555=) c.930C= (p.Gly310=) n.1186C= c.7845C= (p.Gly2615=) c.7779C= (p.Gly2593=) c.7842C= (p.Gly2614=) c.7839C= (p.Gly2613=) c.7785C= (p.Gly2595=) c.7755C= (p.Gly2585=) c.7710C= (p.Gly2570=) c.7305C= (p.Gly2435=) c.6663C= (p.Gly2221=) c.4173C= (p.Gly1391=) | |
10 | g.71803065C>G | CA5546396 | CDH23 | c.7650C>G (p.Gly2550=) c.1583C>G (n.1583C>G) c.1247C>G (n.1247C>G) c.7665C>G (p.Gly2555=) c.930C>G (p.Gly310=) n.1186C>G c.7845C>G (p.Gly2615=) c.7779C>G (p.Gly2593=) c.7842C>G (p.Gly2614=) c.7839C>G (p.Gly2613=) c.7785C>G (p.Gly2595=) c.7755C>G (p.Gly2585=) c.7710C>G (p.Gly2570=) c.7305C>G (p.Gly2435=) c.6663C>G (p.Gly2221=) c.4173C>G (p.Gly1391=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71803065C>T | CA470062533 | CDH23 | c.7650C>T (p.Gly2550=) c.1583C>T (n.1583C>T) c.1247C>T (n.1247C>T) c.7665C>T (p.Gly2555=) c.930C>T (p.Gly310=) n.1186C>T c.7845C>T (p.Gly2615=) c.7779C>T (p.Gly2593=) c.7842C>T (p.Gly2614=) c.7839C>T (p.Gly2613=) c.7785C>T (p.Gly2595=) c.7755C>T (p.Gly2585=) c.7710C>T (p.Gly2570=) c.7305C>T (p.Gly2435=) c.6663C>T (p.Gly2221=) c.4173C>T (p.Gly1391=) | COSMIC |
10 | g.71803067del | CA1918880456 | CDH23 | c.7652del (p.Pro2551LeufsTer15) c.1585del (n.1585del) c.1249del (n.1249del) c.7667del (p.Pro2556LeufsTer15) c.932del (p.Pro311LeufsTer15) n.1188del c.7847del (p.Pro2616LeufsTer15) c.7781del (p.Pro2594LeufsTer15) c.7844del (p.Pro2615LeufsTer15) c.7841del (p.Pro2614LeufsTer15) c.7787del (p.Pro2596LeufsTer15) c.7757del (p.Pro2586LeufsTer15) c.7712del (p.Pro2571LeufsTer15) c.7307del (p.Pro2436LeufsTer15) c.6665del (p.Pro2222LeufsTer15) c.4175del (p.Pro1392LeufsTer15) | dbSNP |
10 | g.71803066C>A | CA377160977 | CDH23 | c.7651C>A (p.Pro2551Thr) c.1584C>A (n.1584C>A) c.1248C>A (n.1248C>A) c.7666C>A (p.Pro2556Thr) c.931C>A (p.Pro311Thr) n.1187C>A c.7846C>A (p.Pro2616Thr) c.7780C>A (p.Pro2594Thr) c.7843C>A (p.Pro2615Thr) c.7840C>A (p.Pro2614Thr) c.7786C>A (p.Pro2596Thr) c.7756C>A (p.Pro2586Thr) c.7711C>A (p.Pro2571Thr) c.7306C>A (p.Pro2436Thr) c.6664C>A (p.Pro2222Thr) c.4174C>A (p.Pro1392Thr) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71803066C= | CA1918880458 | CDH23 | c.7651C= (p.Pro2551=) c.1584C= (n.1584C=) c.1248C= (n.1248C=) c.7666C= (p.Pro2556=) c.931C= (p.Pro311=) n.1187C= c.7846C= (p.Pro2616=) c.7780C= (p.Pro2594=) c.7843C= (p.Pro2615=) c.7840C= (p.Pro2614=) c.7786C= (p.Pro2596=) c.7756C= (p.Pro2586=) c.7711C= (p.Pro2571=) c.7306C= (p.Pro2436=) c.6664C= (p.Pro2222=) c.4174C= (p.Pro1392=) | |
10 | g.71803066C>G | CA185439 | CDH23 | c.7651C>G (p.Pro2551Ala) c.1584C>G (n.1584C>G) c.1248C>G (n.1248C>G) c.7666C>G (p.Pro2556Ala) c.931C>G (p.Pro311Ala) n.1187C>G c.7846C>G (p.Pro2616Ala) c.7780C>G (p.Pro2594Ala) c.7843C>G (p.Pro2615Ala) c.7840C>G (p.Pro2614Ala) c.7786C>G (p.Pro2596Ala) c.7756C>G (p.Pro2586Ala) c.7711C>G (p.Pro2571Ala) c.7306C>G (p.Pro2436Ala) c.6664C>G (p.Pro2222Ala) c.4174C>G (p.Pro1392Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71803066C>T | CA377160979 | CDH23 | c.7651C>T (p.Pro2551Ser) c.1584C>T (n.1584C>T) c.1248C>T (n.1248C>T) c.7666C>T (p.Pro2556Ser) c.931C>T (p.Pro311Ser) n.1187C>T c.7846C>T (p.Pro2616Ser) c.7780C>T (p.Pro2594Ser) c.7843C>T (p.Pro2615Ser) c.7840C>T (p.Pro2614Ser) c.7786C>T (p.Pro2596Ser) c.7756C>T (p.Pro2586Ser) c.7711C>T (p.Pro2571Ser) c.7306C>T (p.Pro2436Ser) c.6664C>T (p.Pro2222Ser) c.4174C>T (p.Pro1392Ser) | |
10 | g.71803067C>A | CA377160981 | CDH23 | c.7652C>A (p.Pro2551His) c.1585C>A (n.1585C>A) c.1249C>A (n.1249C>A) c.7667C>A (p.Pro2556His) c.932C>A (p.Pro311His) n.1188C>A c.7847C>A (p.Pro2616His) c.7781C>A (p.Pro2594His) c.7844C>A (p.Pro2615His) c.7841C>A (p.Pro2614His) c.7787C>A (p.Pro2596His) c.7757C>A (p.Pro2586His) c.7712C>A (p.Pro2571His) c.7307C>A (p.Pro2436His) c.6665C>A (p.Pro2222His) c.4175C>A (p.Pro1392His) | |
10 | g.71803067C>G | CA377160982 | CDH23 | c.7652C>G (p.Pro2551Arg) c.1585C>G (n.1585C>G) c.1249C>G (n.1249C>G) c.7667C>G (p.Pro2556Arg) c.932C>G (p.Pro311Arg) n.1188C>G c.7847C>G (p.Pro2616Arg) c.7781C>G (p.Pro2594Arg) c.7844C>G (p.Pro2615Arg) c.7841C>G (p.Pro2614Arg) c.7787C>G (p.Pro2596Arg) c.7757C>G (p.Pro2586Arg) c.7712C>G (p.Pro2571Arg) c.7307C>G (p.Pro2436Arg) c.6665C>G (p.Pro2222Arg) c.4175C>G (p.Pro1392Arg) | gnomAD v4 |
10 | g.71803067C>T | CA377160985 | CDH23 | c.7652C>T (p.Pro2551Leu) c.1585C>T (n.1585C>T) c.1249C>T (n.1249C>T) c.7667C>T (p.Pro2556Leu) c.932C>T (p.Pro311Leu) n.1188C>T c.7847C>T (p.Pro2616Leu) c.7781C>T (p.Pro2594Leu) c.7844C>T (p.Pro2615Leu) c.7841C>T (p.Pro2614Leu) c.7787C>T (p.Pro2596Leu) c.7757C>T (p.Pro2586Leu) c.7712C>T (p.Pro2571Leu) c.7307C>T (p.Pro2436Leu) c.6665C>T (p.Pro2222Leu) c.4175C>T (p.Pro1392Leu) | COSMIC |
10 | g.71803068T>A | CA470062534 | CDH23 | c.7653T>A (p.Pro2551=) c.1586T>A (n.1586T>A) c.1250T>A (n.1250T>A) c.7668T>A (p.Pro2556=) c.933T>A (p.Pro311=) n.1189T>A c.7848T>A (p.Pro2616=) c.7782T>A (p.Pro2594=) c.7845T>A (p.Pro2615=) c.7842T>A (p.Pro2614=) c.7788T>A (p.Pro2596=) c.7758T>A (p.Pro2586=) c.7713T>A (p.Pro2571=) c.7308T>A (p.Pro2436=) c.6666T>A (p.Pro2222=) c.4176T>A (p.Pro1392=) | |
10 | g.71803068T>C | CA470062535 | CDH23 | c.7653T>C (p.Pro2551=) c.1586T>C (n.1586T>C) c.1250T>C (n.1250T>C) c.7668T>C (p.Pro2556=) c.933T>C (p.Pro311=) n.1189T>C c.7848T>C (p.Pro2616=) c.7782T>C (p.Pro2594=) c.7845T>C (p.Pro2615=) c.7842T>C (p.Pro2614=) c.7788T>C (p.Pro2596=) c.7758T>C (p.Pro2586=) c.7713T>C (p.Pro2571=) c.7308T>C (p.Pro2436=) c.6666T>C (p.Pro2222=) c.4176T>C (p.Pro1392=) | |
10 | g.71803068T>G | CA470062536 | CDH23 | c.7653T>G (p.Pro2551=) c.1586T>G (n.1586T>G) c.1250T>G (n.1250T>G) c.7668T>G (p.Pro2556=) c.933T>G (p.Pro311=) n.1189T>G c.7848T>G (p.Pro2616=) c.7782T>G (p.Pro2594=) c.7845T>G (p.Pro2615=) c.7842T>G (p.Pro2614=) c.7788T>G (p.Pro2596=) c.7758T>G (p.Pro2586=) c.7713T>G (p.Pro2571=) c.7308T>G (p.Pro2436=) c.6666T>G (p.Pro2222=) c.4176T>G (p.Pro1392=) | |
10 | g.71803069G>A | CA377160992 | CDH23 | c.7654G>A (p.Gly2552Ser) c.1587G>A (n.1587G>A) c.1251G>A (n.1251G>A) c.7669G>A (p.Gly2557Ser) c.934G>A (p.Gly312Ser) n.1190G>A c.7849G>A (p.Gly2617Ser) c.7783G>A (p.Gly2595Ser) c.7846G>A (p.Gly2616Ser) c.7843G>A (p.Gly2615Ser) c.7789G>A (p.Gly2597Ser) c.7759G>A (p.Gly2587Ser) c.7714G>A (p.Gly2572Ser) c.7309G>A (p.Gly2437Ser) c.6667G>A (p.Gly2223Ser) c.4177G>A (p.Gly1393Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71803069G>C | CA377160989 | CDH23 | c.7654G>C (p.Gly2552Arg) c.1587G>C (n.1587G>C) c.1251G>C (n.1251G>C) c.7669G>C (p.Gly2557Arg) c.934G>C (p.Gly312Arg) n.1190G>C c.7849G>C (p.Gly2617Arg) c.7783G>C (p.Gly2595Arg) c.7846G>C (p.Gly2616Arg) c.7843G>C (p.Gly2615Arg) c.7789G>C (p.Gly2597Arg) c.7759G>C (p.Gly2587Arg) c.7714G>C (p.Gly2572Arg) c.7309G>C (p.Gly2437Arg) c.6667G>C (p.Gly2223Arg) c.4177G>C (p.Gly1393Arg) | |
10 | g.71803069G= | CA1918880459 | CDH23 | c.7654G= (p.Gly2552=) c.1587G= (n.1587G=) c.1251G= (n.1251G=) c.7669G= (p.Gly2557=) c.934G= (p.Gly312=) n.1190G= c.7849G= (p.Gly2617=) c.7783G= (p.Gly2595=) c.7846G= (p.Gly2616=) c.7843G= (p.Gly2615=) c.7789G= (p.Gly2597=) c.7759G= (p.Gly2587=) c.7714G= (p.Gly2572=) c.7309G= (p.Gly2437=) c.6667G= (p.Gly2223=) c.4177G= (p.Gly1393=) | |
10 | g.71803069G>T | CA377160988 | CDH23 | c.7654G>T (p.Gly2552Cys) c.1587G>T (n.1587G>T) c.1251G>T (n.1251G>T) c.7669G>T (p.Gly2557Cys) c.934G>T (p.Gly312Cys) n.1190G>T c.7849G>T (p.Gly2617Cys) c.7783G>T (p.Gly2595Cys) c.7846G>T (p.Gly2616Cys) c.7843G>T (p.Gly2615Cys) c.7789G>T (p.Gly2597Cys) c.7759G>T (p.Gly2587Cys) c.7714G>T (p.Gly2572Cys) c.7309G>T (p.Gly2437Cys) c.6667G>T (p.Gly2223Cys) c.4177G>T (p.Gly1393Cys) | |
10 | g.71803070del | CA645559622 | CDH23 | c.7655del (p.Gly2552AlafsTer14) c.1588del (n.1588del) c.1252del (n.1252del) c.7670del (p.Gly2557AlafsTer14) c.935del (p.Gly312AlafsTer14) n.1191del c.7850del (p.Gly2617AlafsTer14) c.7784del (p.Gly2595AlafsTer14) c.7847del (p.Gly2616AlafsTer14) c.7844del (p.Gly2615AlafsTer14) c.7790del (p.Gly2597AlafsTer14) c.7760del (p.Gly2587AlafsTer14) c.7715del (p.Gly2572AlafsTer14) c.7310del (p.Gly2437AlafsTer14) c.6668del (p.Gly2223AlafsTer14) c.4178del (p.Gly1393AlafsTer14) | COSMIC |
10 | g.71803070G>A | CA377160993 | CDH23 | c.7655G>A (p.Gly2552Asp) c.1588G>A (n.1588G>A) c.1252G>A (n.1252G>A) c.7670G>A (p.Gly2557Asp) c.935G>A (p.Gly312Asp) n.1191G>A c.7850G>A (p.Gly2617Asp) c.7784G>A (p.Gly2595Asp) c.7847G>A (p.Gly2616Asp) c.7844G>A (p.Gly2615Asp) c.7790G>A (p.Gly2597Asp) c.7760G>A (p.Gly2587Asp) c.7715G>A (p.Gly2572Asp) c.7310G>A (p.Gly2437Asp) c.6668G>A (p.Gly2223Asp) c.4178G>A (p.Gly1393Asp) | |
10 | g.71803070G>C | CA377160994 | CDH23 | c.7655G>C (p.Gly2552Ala) c.1588G>C (n.1588G>C) c.1252G>C (n.1252G>C) c.7670G>C (p.Gly2557Ala) c.935G>C (p.Gly312Ala) n.1191G>C c.7850G>C (p.Gly2617Ala) c.7784G>C (p.Gly2595Ala) c.7847G>C (p.Gly2616Ala) c.7844G>C (p.Gly2615Ala) c.7790G>C (p.Gly2597Ala) c.7760G>C (p.Gly2587Ala) c.7715G>C (p.Gly2572Ala) c.7310G>C (p.Gly2437Ala) c.6668G>C (p.Gly2223Ala) c.4178G>C (p.Gly1393Ala) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71803070G= | CA1918880460 | CDH23 | c.7655G= (p.Gly2552=) c.1588G= (n.1588G=) c.1252G= (n.1252G=) c.7670G= (p.Gly2557=) c.935G= (p.Gly312=) n.1191G= c.7850G= (p.Gly2617=) c.7784G= (p.Gly2595=) c.7847G= (p.Gly2616=) c.7844G= (p.Gly2615=) c.7790G= (p.Gly2597=) c.7760G= (p.Gly2587=) c.7715G= (p.Gly2572=) c.7310G= (p.Gly2437=) c.6668G= (p.Gly2223=) c.4178G= (p.Gly1393=) | |
10 | g.71803070G>T | CA377160995 | CDH23 | c.7655G>T (p.Gly2552Val) c.1588G>T (n.1588G>T) c.1252G>T (n.1252G>T) c.7670G>T (p.Gly2557Val) c.935G>T (p.Gly312Val) n.1191G>T c.7850G>T (p.Gly2617Val) c.7784G>T (p.Gly2595Val) c.7847G>T (p.Gly2616Val) c.7844G>T (p.Gly2615Val) c.7790G>T (p.Gly2597Val) c.7760G>T (p.Gly2587Val) c.7715G>T (p.Gly2572Val) c.7310G>T (p.Gly2437Val) c.6668G>T (p.Gly2223Val) c.4178G>T (p.Gly1393Val) | |
10 | g.71803071C>A | CA470062537 | CDH23 | c.7656C>A (p.Gly2552=) c.1589C>A (n.1589C>A) c.1253C>A (n.1253C>A) c.7671C>A (p.Gly2557=) c.936C>A (p.Gly312=) n.1192C>A c.7851C>A (p.Gly2617=) c.7785C>A (p.Gly2595=) c.7848C>A (p.Gly2616=) c.7845C>A (p.Gly2615=) c.7791C>A (p.Gly2597=) c.7761C>A (p.Gly2587=) c.7716C>A (p.Gly2572=) c.7311C>A (p.Gly2437=) c.6669C>A (p.Gly2223=) c.4179C>A (p.Gly1393=) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71803071C= | CA1918880461 | CDH23 | c.7656C= (p.Gly2552=) c.1589C= (n.1589C=) c.1253C= (n.1253C=) c.7671C= (p.Gly2557=) c.936C= (p.Gly312=) n.1192C= c.7851C= (p.Gly2617=) c.7785C= (p.Gly2595=) c.7848C= (p.Gly2616=) c.7845C= (p.Gly2615=) c.7791C= (p.Gly2597=) c.7761C= (p.Gly2587=) c.7716C= (p.Gly2572=) c.7311C= (p.Gly2437=) c.6669C= (p.Gly2223=) c.4179C= (p.Gly1393=) | |
10 | g.71803071C>G | CA470062538 | CDH23 | c.7656C>G (p.Gly2552=) c.1589C>G (n.1589C>G) c.1253C>G (n.1253C>G) c.7671C>G (p.Gly2557=) c.936C>G (p.Gly312=) n.1192C>G c.7851C>G (p.Gly2617=) c.7785C>G (p.Gly2595=) c.7848C>G (p.Gly2616=) c.7845C>G (p.Gly2615=) c.7791C>G (p.Gly2597=) c.7761C>G (p.Gly2587=) c.7716C>G (p.Gly2572=) c.7311C>G (p.Gly2437=) c.6669C>G (p.Gly2223=) c.4179C>G (p.Gly1393=) | gnomAD v4 |
10 | g.71803071C>T | CA209472524 | CDH23 | c.7656C>T (p.Gly2552=) c.1589C>T (n.1589C>T) c.1253C>T (n.1253C>T) c.7671C>T (p.Gly2557=) c.936C>T (p.Gly312=) n.1192C>T c.7851C>T (p.Gly2617=) c.7785C>T (p.Gly2595=) c.7848C>T (p.Gly2616=) c.7845C>T (p.Gly2615=) c.7791C>T (p.Gly2597=) c.7761C>T (p.Gly2587=) c.7716C>T (p.Gly2572=) c.7311C>T (p.Gly2437=) c.6669C>T (p.Gly2223=) c.4179C>T (p.Gly1393=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.71803072G>A | CA5546397 | CDH23 | c.7657G>A (p.Val2553Met) c.1590G>A (n.1590G>A) c.1254G>A (n.1254G>A) c.7672G>A (p.Val2558Met) c.937G>A (p.Val313Met) n.1193G>A c.7852G>A (p.Val2618Met) c.7786G>A (p.Val2596Met) c.7849G>A (p.Val2617Met) c.7846G>A (p.Val2616Met) c.7792G>A (p.Val2598Met) c.7762G>A (p.Val2588Met) c.7717G>A (p.Val2573Met) c.7312G>A (p.Val2438Met) c.6670G>A (p.Val2224Met) c.4180G>A (p.Val1394Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71803072G>C | CA377160996 | CDH23 | c.7657G>C (p.Val2553Leu) c.1590G>C (n.1590G>C) c.1254G>C (n.1254G>C) c.7672G>C (p.Val2558Leu) c.937G>C (p.Val313Leu) n.1193G>C c.7852G>C (p.Val2618Leu) c.7786G>C (p.Val2596Leu) c.7849G>C (p.Val2617Leu) c.7846G>C (p.Val2616Leu) c.7792G>C (p.Val2598Leu) c.7762G>C (p.Val2588Leu) c.7717G>C (p.Val2573Leu) c.7312G>C (p.Val2438Leu) c.6670G>C (p.Val2224Leu) c.4180G>C (p.Val1394Leu) | |
10 | g.71803072G= | CA1918880462 | CDH23 | c.7657G= (p.Val2553=) c.1590G= (n.1590G=) c.1254G= (n.1254G=) c.7672G= (p.Val2558=) c.937G= (p.Val313=) n.1193G= c.7852G= (p.Val2618=) c.7786G= (p.Val2596=) c.7849G= (p.Val2617=) c.7846G= (p.Val2616=) c.7792G= (p.Val2598=) c.7762G= (p.Val2588=) c.7717G= (p.Val2573=) c.7312G= (p.Val2438=) c.6670G= (p.Val2224=) c.4180G= (p.Val1394=) | |
10 | g.71803072G>T | CA377160997 | CDH23 | c.7657G>T (p.Val2553Leu) c.1590G>T (n.1590G>T) c.1254G>T (n.1254G>T) c.7672G>T (p.Val2558Leu) c.937G>T (p.Val313Leu) n.1193G>T c.7852G>T (p.Val2618Leu) c.7786G>T (p.Val2596Leu) c.7849G>T (p.Val2617Leu) c.7846G>T (p.Val2616Leu) c.7792G>T (p.Val2598Leu) c.7762G>T (p.Val2588Leu) c.7717G>T (p.Val2573Leu) c.7312G>T (p.Val2438Leu) c.6670G>T (p.Val2224Leu) c.4180G>T (p.Val1394Leu) | gnomAD v4 |
10 | g.71803073T>A | CA377160998 | CDH23 | c.7658T>A (p.Val2553Glu) c.1591T>A (n.1591T>A) c.1255T>A (n.1255T>A) c.7673T>A (p.Val2558Glu) c.938T>A (p.Val313Glu) n.1194T>A c.7853T>A (p.Val2618Glu) c.7787T>A (p.Val2596Glu) c.7850T>A (p.Val2617Glu) c.7847T>A (p.Val2616Glu) c.7793T>A (p.Val2598Glu) c.7763T>A (p.Val2588Glu) c.7718T>A (p.Val2573Glu) c.7313T>A (p.Val2438Glu) c.6671T>A (p.Val2224Glu) c.4181T>A (p.Val1394Glu) | |
10 | g.71803073T>C | CA377160999 | CDH23 | c.7658T>C (p.Val2553Ala) c.1591T>C (n.1591T>C) c.1255T>C (n.1255T>C) c.7673T>C (p.Val2558Ala) c.938T>C (p.Val313Ala) n.1194T>C c.7853T>C (p.Val2618Ala) c.7787T>C (p.Val2596Ala) c.7850T>C (p.Val2617Ala) c.7847T>C (p.Val2616Ala) c.7793T>C (p.Val2598Ala) c.7763T>C (p.Val2588Ala) c.7718T>C (p.Val2573Ala) c.7313T>C (p.Val2438Ala) c.6671T>C (p.Val2224Ala) c.4181T>C (p.Val1394Ala) | |
10 | g.71803073T>G | CA377161000 | CDH23 | c.7658T>G (p.Val2553Gly) c.1591T>G (n.1591T>G) c.1255T>G (n.1255T>G) c.7673T>G (p.Val2558Gly) c.938T>G (p.Val313Gly) n.1194T>G c.7853T>G (p.Val2618Gly) c.7787T>G (p.Val2596Gly) c.7850T>G (p.Val2617Gly) c.7847T>G (p.Val2616Gly) c.7793T>G (p.Val2598Gly) c.7763T>G (p.Val2588Gly) c.7718T>G (p.Val2573Gly) c.7313T>G (p.Val2438Gly) c.6671T>G (p.Val2224Gly) c.4181T>G (p.Val1394Gly) | |
10 | g.71803074G>A | CA209472531 | CDH23 | c.7659G>A (p.Val2553=) c.1592G>A (n.1592G>A) c.1256G>A (n.1256G>A) c.7674G>A (p.Val2558=) c.939G>A (p.Val313=) n.1195G>A c.7854G>A (p.Val2618=) c.7788G>A (p.Val2596=) c.7851G>A (p.Val2617=) c.7848G>A (p.Val2616=) c.7794G>A (p.Val2598=) c.7764G>A (p.Val2588=) c.7719G>A (p.Val2573=) c.7314G>A (p.Val2438=) c.6672G>A (p.Val2224=) c.4182G>A (p.Val1394=) | dbSNP gnomAD v4 |
10 | g.71803074G>C | CA470062539 | CDH23 | c.7659G>C (p.Val2553=) c.1592G>C (n.1592G>C) c.1256G>C (n.1256G>C) c.7674G>C (p.Val2558=) c.939G>C (p.Val313=) n.1195G>C c.7854G>C (p.Val2618=) c.7788G>C (p.Val2596=) c.7851G>C (p.Val2617=) c.7848G>C (p.Val2616=) c.7794G>C (p.Val2598=) c.7764G>C (p.Val2588=) c.7719G>C (p.Val2573=) c.7314G>C (p.Val2438=) c.6672G>C (p.Val2224=) c.4182G>C (p.Val1394=) | |
10 | g.71803074G= | CA1918880463 | CDH23 | c.7659G= (p.Val2553=) c.1592G= (n.1592G=) c.1256G= (n.1256G=) c.7674G= (p.Val2558=) c.939G= (p.Val313=) n.1195G= c.7854G= (p.Val2618=) c.7788G= (p.Val2596=) c.7851G= (p.Val2617=) c.7848G= (p.Val2616=) c.7794G= (p.Val2598=) c.7764G= (p.Val2588=) c.7719G= (p.Val2573=) c.7314G= (p.Val2438=) c.6672G= (p.Val2224=) c.4182G= (p.Val1394=) | |
10 | g.71803074G>T | CA470062540 | CDH23 | c.7659G>T (p.Val2553=) c.1592G>T (n.1592G>T) c.1256G>T (n.1256G>T) c.7674G>T (p.Val2558=) c.939G>T (p.Val313=) n.1195G>T c.7854G>T (p.Val2618=) c.7788G>T (p.Val2596=) c.7851G>T (p.Val2617=) c.7848G>T (p.Val2616=) c.7794G>T (p.Val2598=) c.7764G>T (p.Val2588=) c.7719G>T (p.Val2573=) c.7314G>T (p.Val2438=) c.6672G>T (p.Val2224=) c.4182G>T (p.Val1394=) | |
10 | g.71803075G>A | CA377161001 | CDH23 | c.7660G>A (p.Glu2554Lys) c.1593G>A (n.1593G>A) c.1257G>A (n.1257G>A) c.7675G>A (p.Glu2559Lys) c.940G>A (p.Glu314Lys) n.1196G>A c.7855G>A (p.Glu2619Lys) c.7789G>A (p.Glu2597Lys) c.7852G>A (p.Glu2618Lys) c.7849G>A (p.Glu2617Lys) c.7795G>A (p.Glu2599Lys) c.7765G>A (p.Glu2589Lys) c.7720G>A (p.Glu2574Lys) c.7315G>A (p.Glu2439Lys) c.6673G>A (p.Glu2225Lys) c.4183G>A (p.Glu1395Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.71803075G>C | CA377161002 | CDH23 | c.7660G>C (p.Glu2554Gln) c.1593G>C (n.1593G>C) c.1257G>C (n.1257G>C) c.7675G>C (p.Glu2559Gln) c.940G>C (p.Glu314Gln) n.1196G>C c.7855G>C (p.Glu2619Gln) c.7789G>C (p.Glu2597Gln) c.7852G>C (p.Glu2618Gln) c.7849G>C (p.Glu2617Gln) c.7795G>C (p.Glu2599Gln) c.7765G>C (p.Glu2589Gln) c.7720G>C (p.Glu2574Gln) c.7315G>C (p.Glu2439Gln) c.6673G>C (p.Glu2225Gln) c.4183G>C (p.Glu1395Gln) | dbSNP |
10 | g.71803075G= | CA1918880464 | CDH23 | c.7660G= (p.Glu2554=) c.1593G= (n.1593G=) c.1257G= (n.1257G=) c.7675G= (p.Glu2559=) c.940G= (p.Glu314=) n.1196G= c.7855G= (p.Glu2619=) c.7789G= (p.Glu2597=) c.7852G= (p.Glu2618=) c.7849G= (p.Glu2617=) c.7795G= (p.Glu2599=) c.7765G= (p.Glu2589=) c.7720G= (p.Glu2574=) c.7315G= (p.Glu2439=) c.6673G= (p.Glu2225=) c.4183G= (p.Glu1395=) | |
10 | g.71803075G>T | CA377161003 | CDH23 | c.7660G>T (p.Glu2554Ter) c.1593G>T (n.1593G>T) c.1257G>T (n.1257G>T) c.7675G>T (p.Glu2559Ter) c.940G>T (p.Glu314Ter) n.1196G>T c.7855G>T (p.Glu2619Ter) c.7789G>T (p.Glu2597Ter) c.7852G>T (p.Glu2618Ter) c.7849G>T (p.Glu2617Ter) c.7795G>T (p.Glu2599Ter) c.7765G>T (p.Glu2589Ter) c.7720G>T (p.Glu2574Ter) c.7315G>T (p.Glu2439Ter) c.6673G>T (p.Glu2225Ter) c.4183G>T (p.Glu1395Ter) | gnomAD v4 COSMIC |
10 | g.71803076G>A | CA377161004 | CDH23 | c.7660+1G>A (n.7660+1G>A) c.1593+1G>A (n.1593+1G>A) c.1257+1G>A (n.1257+1G>A) c.7675+1G>A (n.7675+1G>A) c.940+1G>A (n.940+1G>A) n.1196+1G>A c.7855+1G>A (n.7855+1G>A) c.7789+1G>A (n.7789+1G>A) c.7852+1G>A (n.7852+1G>A) c.7849+1G>A (n.7849+1G>A) c.7795+1G>A (n.7795+1G>A) c.7765+1G>A (n.7765+1G>A) c.7720+1G>A (n.7720+1G>A) c.7315+1G>A (n.7315+1G>A) c.6673+1G>A (n.6673+1G>A) c.4183+1G>A (n.4183+1G>A) | |
10 | g.71803076G>C | CA377161005 | CDH23 | c.7660+1G>C (n.7660+1G>C) c.1593+1G>C (n.1593+1G>C) c.1257+1G>C (n.1257+1G>C) c.7675+1G>C (n.7675+1G>C) c.940+1G>C (n.940+1G>C) n.1196+1G>C c.7855+1G>C (n.7855+1G>C) c.7789+1G>C (n.7789+1G>C) c.7852+1G>C (n.7852+1G>C) c.7849+1G>C (n.7849+1G>C) c.7795+1G>C (n.7795+1G>C) c.7765+1G>C (n.7765+1G>C) c.7720+1G>C (n.7720+1G>C) c.7315+1G>C (n.7315+1G>C) c.6673+1G>C (n.6673+1G>C) c.4183+1G>C (n.4183+1G>C) | |
10 | g.71803076G= | CA1918880465 | CDH23 | c.7660+1G= (n.7660+1G=) c.1593+1G= (n.1593+1G=) c.1257+1G= (n.1257+1G=) c.7675+1G= (n.7675+1G=) c.940+1G= (n.940+1G=) n.1196+1G= c.7855+1G= (n.7855+1G=) c.7789+1G= (n.7789+1G=) c.7852+1G= (n.7852+1G=) c.7849+1G= (n.7849+1G=) c.7795+1G= (n.7795+1G=) c.7765+1G= (n.7765+1G=) c.7720+1G= (n.7720+1G=) c.7315+1G= (n.7315+1G=) c.6673+1G= (n.6673+1G=) c.4183+1G= (n.4183+1G=) | |
10 | g.71803076G>T | CA16605685 | CDH23 | c.7660+1G>T (n.7660+1G>T) c.1593+1G>T (n.1593+1G>T) c.1257+1G>T (n.1257+1G>T) c.7675+1G>T (n.7675+1G>T) c.940+1G>T (n.940+1G>T) n.1196+1G>T c.7855+1G>T (n.7855+1G>T) c.7789+1G>T (n.7789+1G>T) c.7852+1G>T (n.7852+1G>T) c.7849+1G>T (n.7849+1G>T) c.7795+1G>T (n.7795+1G>T) c.7765+1G>T (n.7765+1G>T) c.7720+1G>T (n.7720+1G>T) c.7315+1G>T (n.7315+1G>T) c.6673+1G>T (n.6673+1G>T) c.4183+1G>T (n.4183+1G>T) | ClinVar dbSNP gnomAD v4 |
10 | g.71803077T>A | CA377161006 | CDH23 | c.7660+2T>A (n.7660+2T>A) c.1593+2T>A (n.1593+2T>A) c.1257+2T>A (n.1257+2T>A) c.7675+2T>A (n.7675+2T>A) c.940+2T>A (n.940+2T>A) n.1196+2T>A c.7855+2T>A (n.7855+2T>A) c.7789+2T>A (n.7789+2T>A) c.7852+2T>A (n.7852+2T>A) c.7849+2T>A (n.7849+2T>A) c.7795+2T>A (n.7795+2T>A) c.7765+2T>A (n.7765+2T>A) c.7720+2T>A (n.7720+2T>A) c.7315+2T>A (n.7315+2T>A) c.6673+2T>A (n.6673+2T>A) c.4183+2T>A (n.4183+2T>A) | |
10 | g.71803077T>C | CA377161008 | CDH23 | c.7660+2T>C (n.7660+2T>C) c.1593+2T>C (n.1593+2T>C) c.1257+2T>C (n.1257+2T>C) c.7675+2T>C (n.7675+2T>C) c.940+2T>C (n.940+2T>C) n.1196+2T>C c.7855+2T>C (n.7855+2T>C) c.7789+2T>C (n.7789+2T>C) c.7852+2T>C (n.7852+2T>C) c.7849+2T>C (n.7849+2T>C) c.7795+2T>C (n.7795+2T>C) c.7765+2T>C (n.7765+2T>C) c.7720+2T>C (n.7720+2T>C) c.7315+2T>C (n.7315+2T>C) c.6673+2T>C (n.6673+2T>C) c.4183+2T>C (n.4183+2T>C) | |
10 | g.71803077T>G | CA377161007 | CDH23 | c.7660+2T>G (n.7660+2T>G) c.1593+2T>G (n.1593+2T>G) c.1257+2T>G (n.1257+2T>G) c.7675+2T>G (n.7675+2T>G) c.940+2T>G (n.940+2T>G) n.1196+2T>G c.7855+2T>G (n.7855+2T>G) c.7789+2T>G (n.7789+2T>G) c.7852+2T>G (n.7852+2T>G) c.7849+2T>G (n.7849+2T>G) c.7795+2T>G (n.7795+2T>G) c.7765+2T>G (n.7765+2T>G) c.7720+2T>G (n.7720+2T>G) c.7315+2T>G (n.7315+2T>G) c.6673+2T>G (n.6673+2T>G) c.4183+2T>G (n.4183+2T>G) | |
10 | g.71803078A>T | CA2574456753 | CDH23 | c.7660+3A>T (n.7660+3A>T) c.1593+3A>T (n.1593+3A>T) c.1257+3A>T (n.1257+3A>T) c.7675+3A>T (n.7675+3A>T) c.940+3A>T (n.940+3A>T) n.1196+3A>T c.7855+3A>T (n.7855+3A>T) c.7789+3A>T (n.7789+3A>T) c.7852+3A>T (n.7852+3A>T) c.7849+3A>T (n.7849+3A>T) c.7795+3A>T (n.7795+3A>T) c.7765+3A>T (n.7765+3A>T) c.7720+3A>T (n.7720+3A>T) c.7315+3A>T (n.7315+3A>T) c.6673+3A>T (n.6673+3A>T) c.4183+3A>T (n.4183+3A>T) | gnomAD v4 |
10 | g.71803080G>A | CA5546398 | CDH23 | c.7660+5G>A (n.7660+5G>A) c.1593+5G>A (n.1593+5G>A) c.1257+5G>A (n.1257+5G>A) c.7675+5G>A (n.7675+5G>A) c.940+5G>A (n.940+5G>A) n.1196+5G>A c.7855+5G>A (n.7855+5G>A) c.7789+5G>A (n.7789+5G>A) c.7852+5G>A (n.7852+5G>A) c.7849+5G>A (n.7849+5G>A) c.7795+5G>A (n.7795+5G>A) c.7765+5G>A (n.7765+5G>A) c.7720+5G>A (n.7720+5G>A) c.7315+5G>A (n.7315+5G>A) c.6673+5G>A (n.6673+5G>A) c.4183+5G>A (n.4183+5G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71803080G= | CA1918880466 | CDH23 | c.7660+5G= (n.7660+5G=) c.1593+5G= (n.1593+5G=) c.1257+5G= (n.1257+5G=) c.7675+5G= (n.7675+5G=) c.940+5G= (n.940+5G=) n.1196+5G= c.7855+5G= (n.7855+5G=) c.7789+5G= (n.7789+5G=) c.7852+5G= (n.7852+5G=) c.7849+5G= (n.7849+5G=) c.7795+5G= (n.7795+5G=) c.7765+5G= (n.7765+5G=) c.7720+5G= (n.7720+5G=) c.7315+5G= (n.7315+5G=) c.6673+5G= (n.6673+5G=) c.4183+5G= (n.4183+5G=) | |
10 | g.71803080_71803093del | CA2788481321 | CDH23 | c.7660+5_7660+18del (n.7660+5_7660+18del) c.1593+5_1593+18del (n.1593+5_1593+18del) c.1257+5_1257+18del (n.1257+5_1257+18del) c.7675+5_7675+18del (n.7675+5_7675+18del) c.940+5_940+18del (n.940+5_940+18del) n.1196+5_1196+18del c.7855+5_7855+18del (n.7855+5_7855+18del) c.7789+5_7789+18del (n.7789+5_7789+18del) c.7852+5_7852+18del (n.7852+5_7852+18del) c.7849+5_7849+18del (n.7849+5_7849+18del) c.7795+5_7795+18del (n.7795+5_7795+18del) c.7765+5_7765+18del (n.7765+5_7765+18del) c.7720+5_7720+18del (n.7720+5_7720+18del) c.7315+5_7315+18del (n.7315+5_7315+18del) c.6673+5_6673+18del (n.6673+5_6673+18del) c.4183+5_4183+18del (n.4183+5_4183+18del) | |
10 | g.71803081_71803082insAGA | CA2788481324 | CDH23 | c.7660+6_7660+7insAGA (n.7660+6_7660+7insAGA) c.1593+6_1593+7insAGA (n.1593+6_1593+7insAGA) c.1257+6_1257+7insAGA (n.1257+6_1257+7insAGA) c.7675+6_7675+7insAGA (n.7675+6_7675+7insAGA) c.940+6_940+7insAGA (n.940+6_940+7insAGA) n.1196+6_1196+7insAGA c.7855+6_7855+7insAGA (n.7855+6_7855+7insAGA) c.7789+6_7789+7insAGA (n.7789+6_7789+7insAGA) c.7852+6_7852+7insAGA (n.7852+6_7852+7insAGA) c.7849+6_7849+7insAGA (n.7849+6_7849+7insAGA) c.7795+6_7795+7insAGA (n.7795+6_7795+7insAGA) c.7765+6_7765+7insAGA (n.7765+6_7765+7insAGA) c.7720+6_7720+7insAGA (n.7720+6_7720+7insAGA) c.7315+6_7315+7insAGA (n.7315+6_7315+7insAGA) c.6673+6_6673+7insAGA (n.6673+6_6673+7insAGA) c.4183+6_4183+7insAGA (n.4183+6_4183+7insAGA) | |
10 | g.71803084_71803119del | CA2788481328 | CDH23 | c.7660+9_7660+44del (n.7660+9_7660+44del) c.1593+9_1593+44del (n.1593+9_1593+44del) c.1257+9_1257+44del (n.1257+9_1257+44del) c.7675+9_7675+44del (n.7675+9_7675+44del) c.940+9_940+44del (n.940+9_940+44del) n.1196+9_1196+44del c.7855+9_7855+44del (n.7855+9_7855+44del) c.7789+9_7789+44del (n.7789+9_7789+44del) c.7852+9_7852+44del (n.7852+9_7852+44del) c.7849+9_7849+44del (n.7849+9_7849+44del) c.7795+9_7795+44del (n.7795+9_7795+44del) c.7765+9_7765+44del (n.7765+9_7765+44del) c.7720+9_7720+44del (n.7720+9_7720+44del) c.7315+9_7315+44del (n.7315+9_7315+44del) c.6673+9_6673+44del (n.6673+9_6673+44del) c.4183+9_4183+44del (n.4183+9_4183+44del) | |
10 | g.71803086_71803144del | CA2788481330 | CDH23 | c.7660+11_7661-65del (n.7660+11_7661-65del) c.1593+11_1594-65del (n.1593+11_1594-65del) c.1257+11_1258-65del (n.1257+11_1258-65del) c.7675+11_7676-65del (n.7675+11_7676-65del) c.940+11_941-65del (n.940+11_941-65del) n.1196+11_1197-65del c.7855+11_7856-65del (n.7855+11_7856-65del) c.7789+11_7790-65del (n.7789+11_7790-65del) c.7852+11_7853-65del (n.7852+11_7853-65del) c.7849+11_7850-65del (n.7849+11_7850-65del) c.7795+11_7796-65del (n.7795+11_7796-65del) c.7765+11_7766-65del (n.7765+11_7766-65del) c.7720+11_7721-65del (n.7720+11_7721-65del) c.7315+11_7316-65del (n.7315+11_7316-65del) c.6673+11_6674-65del (n.6673+11_6674-65del) c.4183+11_4184-65del (n.4183+11_4184-65del) | |
10 | g.71803083G>A | CA1918880468 | CDH23 | c.7660+8G>A (n.7660+8G>A) c.1593+8G>A (n.1593+8G>A) c.1257+8G>A (n.1257+8G>A) c.7675+8G>A (n.7675+8G>A) c.940+8G>A (n.940+8G>A) n.1196+8G>A c.7855+8G>A (n.7855+8G>A) c.7789+8G>A (n.7789+8G>A) c.7852+8G>A (n.7852+8G>A) c.7849+8G>A (n.7849+8G>A) c.7795+8G>A (n.7795+8G>A) c.7765+8G>A (n.7765+8G>A) c.7720+8G>A (n.7720+8G>A) c.7315+8G>A (n.7315+8G>A) c.6673+8G>A (n.6673+8G>A) c.4183+8G>A (n.4183+8G>A) | dbSNP |
10 | g.71803083G= | CA1918880467 | CDH23 | c.7660+8G= (n.7660+8G=) c.1593+8G= (n.1593+8G=) c.1257+8G= (n.1257+8G=) c.7675+8G= (n.7675+8G=) c.940+8G= (n.940+8G=) n.1196+8G= c.7855+8G= (n.7855+8G=) c.7789+8G= (n.7789+8G=) c.7852+8G= (n.7852+8G=) c.7849+8G= (n.7849+8G=) c.7795+8G= (n.7795+8G=) c.7765+8G= (n.7765+8G=) c.7720+8G= (n.7720+8G=) c.7315+8G= (n.7315+8G=) c.6673+8G= (n.6673+8G=) c.4183+8G= (n.4183+8G=) | |
10 | g.71803084C>A | CA209472549 | CDH23 | c.7660+9C>A (n.7660+9C>A) c.1593+9C>A (n.1593+9C>A) c.1257+9C>A (n.1257+9C>A) c.7675+9C>A (n.7675+9C>A) c.940+9C>A (n.940+9C>A) n.1196+9C>A c.7855+9C>A (n.7855+9C>A) c.7789+9C>A (n.7789+9C>A) c.7852+9C>A (n.7852+9C>A) c.7849+9C>A (n.7849+9C>A) c.7795+9C>A (n.7795+9C>A) c.7765+9C>A (n.7765+9C>A) c.7720+9C>A (n.7720+9C>A) c.7315+9C>A (n.7315+9C>A) c.6673+9C>A (n.6673+9C>A) c.4183+9C>A (n.4183+9C>A) | ClinVar dbSNP gnomAD v4 |
10 | g.71803084C= | CA1918880469 | CDH23 | c.7660+9C= (n.7660+9C=) c.1593+9C= (n.1593+9C=) c.1257+9C= (n.1257+9C=) c.7675+9C= (n.7675+9C=) c.940+9C= (n.940+9C=) n.1196+9C= c.7855+9C= (n.7855+9C=) c.7789+9C= (n.7789+9C=) c.7852+9C= (n.7852+9C=) c.7849+9C= (n.7849+9C=) c.7795+9C= (n.7795+9C=) c.7765+9C= (n.7765+9C=) c.7720+9C= (n.7720+9C=) c.7315+9C= (n.7315+9C=) c.6673+9C= (n.6673+9C=) c.4183+9C= (n.4183+9C=) | |
10 | g.71803084C>T | CA5546399 | CDH23 | c.7660+9C>T (n.7660+9C>T) c.1593+9C>T (n.1593+9C>T) c.1257+9C>T (n.1257+9C>T) c.7675+9C>T (n.7675+9C>T) c.940+9C>T (n.940+9C>T) n.1196+9C>T c.7855+9C>T (n.7855+9C>T) c.7789+9C>T (n.7789+9C>T) c.7852+9C>T (n.7852+9C>T) c.7849+9C>T (n.7849+9C>T) c.7795+9C>T (n.7795+9C>T) c.7765+9C>T (n.7765+9C>T) c.7720+9C>T (n.7720+9C>T) c.7315+9C>T (n.7315+9C>T) c.6673+9C>T (n.6673+9C>T) c.4183+9C>T (n.4183+9C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71803085C>T | CA2573145308 | CDH23 | c.7660+10C>T (n.7660+10C>T) c.1593+10C>T (n.1593+10C>T) c.1257+10C>T (n.1257+10C>T) c.7675+10C>T (n.7675+10C>T) c.940+10C>T (n.940+10C>T) n.1196+10C>T c.7855+10C>T (n.7855+10C>T) c.7789+10C>T (n.7789+10C>T) c.7852+10C>T (n.7852+10C>T) c.7849+10C>T (n.7849+10C>T) c.7795+10C>T (n.7795+10C>T) c.7765+10C>T (n.7765+10C>T) c.7720+10C>T (n.7720+10C>T) c.7315+10C>T (n.7315+10C>T) c.6673+10C>T (n.6673+10C>T) c.4183+10C>T (n.4183+10C>T) | ClinVar dbSNP gnomAD v4 |
10 | g.71803088C>A | CA2609580471 | CDH23 | c.7660+13C>A (n.7660+13C>A) c.1593+13C>A (n.1593+13C>A) c.1257+13C>A (n.1257+13C>A) c.7675+13C>A (n.7675+13C>A) c.940+13C>A (n.940+13C>A) n.1196+13C>A c.7855+13C>A (n.7855+13C>A) c.7789+13C>A (n.7789+13C>A) c.7852+13C>A (n.7852+13C>A) c.7849+13C>A (n.7849+13C>A) c.7795+13C>A (n.7795+13C>A) c.7765+13C>A (n.7765+13C>A) c.7720+13C>A (n.7720+13C>A) c.7315+13C>A (n.7315+13C>A) c.6673+13C>A (n.6673+13C>A) c.4183+13C>A (n.4183+13C>A) | gnomAD v4 |
10 | g.71803088C= | CA1918880470 | CDH23 | c.7660+13C= (n.7660+13C=) c.1593+13C= (n.1593+13C=) c.1257+13C= (n.1257+13C=) c.7675+13C= (n.7675+13C=) c.940+13C= (n.940+13C=) n.1196+13C= c.7855+13C= (n.7855+13C=) c.7789+13C= (n.7789+13C=) c.7852+13C= (n.7852+13C=) c.7849+13C= (n.7849+13C=) c.7795+13C= (n.7795+13C=) c.7765+13C= (n.7765+13C=) c.7720+13C= (n.7720+13C=) c.7315+13C= (n.7315+13C=) c.6673+13C= (n.6673+13C=) c.4183+13C= (n.4183+13C=) | |
10 | g.71803088C>T | CA175521 | CDH23 | c.7660+13C>T (n.7660+13C>T) c.1593+13C>T (n.1593+13C>T) c.1257+13C>T (n.1257+13C>T) c.7675+13C>T (n.7675+13C>T) c.940+13C>T (n.940+13C>T) n.1196+13C>T c.7855+13C>T (n.7855+13C>T) c.7789+13C>T (n.7789+13C>T) c.7852+13C>T (n.7852+13C>T) c.7849+13C>T (n.7849+13C>T) c.7795+13C>T (n.7795+13C>T) c.7765+13C>T (n.7765+13C>T) c.7720+13C>T (n.7720+13C>T) c.7315+13C>T (n.7315+13C>T) c.6673+13C>T (n.6673+13C>T) c.4183+13C>T (n.4183+13C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |