| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.71802976A>C | CA377160618 | CDH23 | c.7561A>C (p.Asn2521His) c.1494A>C (n.1494A>C) c.1158A>C (n.1158A>C) c.7576A>C (p.Asn2526His) c.841A>C (p.Asn281His) n.1097A>C c.7756A>C (p.Asn2586His) c.7690A>C (p.Asn2564His) c.7753A>C (p.Asn2585His) c.7750A>C (p.Asn2584His) c.7696A>C (p.Asn2566His) c.7666A>C (p.Asn2556His) c.7621A>C (p.Asn2541His) c.7216A>C (p.Asn2406His) c.6574A>C (p.Asn2192His) c.4084A>C (p.Asn1362His) | |
| 10 | g.71802976A>G | CA377160616 | CDH23 | c.7561A>G (p.Asn2521Asp) c.1494A>G (n.1494A>G) c.1158A>G (n.1158A>G) c.7576A>G (p.Asn2526Asp) c.841A>G (p.Asn281Asp) n.1097A>G c.7756A>G (p.Asn2586Asp) c.7690A>G (p.Asn2564Asp) c.7753A>G (p.Asn2585Asp) c.7750A>G (p.Asn2584Asp) c.7696A>G (p.Asn2566Asp) c.7666A>G (p.Asn2556Asp) c.7621A>G (p.Asn2541Asp) c.7216A>G (p.Asn2406Asp) c.6574A>G (p.Asn2192Asp) c.4084A>G (p.Asn1362Asp) | |
| 10 | g.71802976A>T | CA377160614 | CDH23 | c.7561A>T (p.Asn2521Tyr) c.1494A>T (n.1494A>T) c.1158A>T (n.1158A>T) c.7576A>T (p.Asn2526Tyr) c.841A>T (p.Asn281Tyr) n.1097A>T c.7756A>T (p.Asn2586Tyr) c.7690A>T (p.Asn2564Tyr) c.7753A>T (p.Asn2585Tyr) c.7750A>T (p.Asn2584Tyr) c.7696A>T (p.Asn2566Tyr) c.7666A>T (p.Asn2556Tyr) c.7621A>T (p.Asn2541Tyr) c.7216A>T (p.Asn2406Tyr) c.6574A>T (p.Asn2192Tyr) c.4084A>T (p.Asn1362Tyr) | |
| 10 | g.71802977A>C | CA377160620 | CDH23 | c.7562A>C (p.Asn2521Thr) c.1495A>C (n.1495A>C) c.1159A>C (n.1159A>C) c.7577A>C (p.Asn2526Thr) c.842A>C (p.Asn281Thr) n.1098A>C c.7757A>C (p.Asn2586Thr) c.7691A>C (p.Asn2564Thr) c.7754A>C (p.Asn2585Thr) c.7751A>C (p.Asn2584Thr) c.7697A>C (p.Asn2566Thr) c.7667A>C (p.Asn2556Thr) c.7622A>C (p.Asn2541Thr) c.7217A>C (p.Asn2406Thr) c.6575A>C (p.Asn2192Thr) c.4085A>C (p.Asn1362Thr) | |
| 10 | g.71802977A>G | CA377160623 | CDH23 | c.7562A>G (p.Asn2521Ser) c.1495A>G (n.1495A>G) c.1159A>G (n.1159A>G) c.7577A>G (p.Asn2526Ser) c.842A>G (p.Asn281Ser) n.1098A>G c.7757A>G (p.Asn2586Ser) c.7691A>G (p.Asn2564Ser) c.7754A>G (p.Asn2585Ser) c.7751A>G (p.Asn2584Ser) c.7697A>G (p.Asn2566Ser) c.7667A>G (p.Asn2556Ser) c.7622A>G (p.Asn2541Ser) c.7217A>G (p.Asn2406Ser) c.6575A>G (p.Asn2192Ser) c.4085A>G (p.Asn1362Ser) | |
| 10 | g.71802977A>T | CA377160625 | CDH23 | c.7562A>T (p.Asn2521Ile) c.1495A>T (n.1495A>T) c.1159A>T (n.1159A>T) c.7577A>T (p.Asn2526Ile) c.842A>T (p.Asn281Ile) n.1098A>T c.7757A>T (p.Asn2586Ile) c.7691A>T (p.Asn2564Ile) c.7754A>T (p.Asn2585Ile) c.7751A>T (p.Asn2584Ile) c.7697A>T (p.Asn2566Ile) c.7667A>T (p.Asn2556Ile) c.7622A>T (p.Asn2541Ile) c.7217A>T (p.Asn2406Ile) c.6575A>T (p.Asn2192Ile) c.4085A>T (p.Asn1362Ile) | |
| 10 | g.71802978T>A | CA377160627 | CDH23 | c.7563T>A (p.Asn2521Lys) c.1496T>A (n.1496T>A) c.1160T>A (n.1160T>A) c.7578T>A (p.Asn2526Lys) c.843T>A (p.Asn281Lys) n.1099T>A c.7758T>A (p.Asn2586Lys) c.7692T>A (p.Asn2564Lys) c.7755T>A (p.Asn2585Lys) c.7752T>A (p.Asn2584Lys) c.7698T>A (p.Asn2566Lys) c.7668T>A (p.Asn2556Lys) c.7623T>A (p.Asn2541Lys) c.7218T>A (p.Asn2406Lys) c.6576T>A (p.Asn2192Lys) c.4086T>A (p.Asn1362Lys) | |
| 10 | g.71802978T>C | CA470062482 | CDH23 | c.7563T>C (p.Asn2521=) c.1496T>C (n.1496T>C) c.1160T>C (n.1160T>C) c.7578T>C (p.Asn2526=) c.843T>C (p.Asn281=) n.1099T>C c.7758T>C (p.Asn2586=) c.7692T>C (p.Asn2564=) c.7755T>C (p.Asn2585=) c.7752T>C (p.Asn2584=) c.7698T>C (p.Asn2566=) c.7668T>C (p.Asn2556=) c.7623T>C (p.Asn2541=) c.7218T>C (p.Asn2406=) c.6576T>C (p.Asn2192=) c.4086T>C (p.Asn1362=) | |
| 10 | g.71802978T>G | CA377160629 | CDH23 | c.7563T>G (p.Asn2521Lys) c.1496T>G (n.1496T>G) c.1160T>G (n.1160T>G) c.7578T>G (p.Asn2526Lys) c.843T>G (p.Asn281Lys) n.1099T>G c.7758T>G (p.Asn2586Lys) c.7692T>G (p.Asn2564Lys) c.7755T>G (p.Asn2585Lys) c.7752T>G (p.Asn2584Lys) c.7698T>G (p.Asn2566Lys) c.7668T>G (p.Asn2556Lys) c.7623T>G (p.Asn2541Lys) c.7218T>G (p.Asn2406Lys) c.6576T>G (p.Asn2192Lys) c.4086T>G (p.Asn1362Lys) | |
| 10 | g.71802979G>A | CA377160632 | CDH23 | c.7564G>A (p.Glu2522Lys) c.1497G>A (n.1497G>A) c.1161G>A (n.1161G>A) c.7579G>A (p.Glu2527Lys) c.844G>A (p.Glu282Lys) n.1100G>A c.7759G>A (p.Glu2587Lys) c.7693G>A (p.Glu2565Lys) c.7756G>A (p.Glu2586Lys) c.7753G>A (p.Glu2585Lys) c.7699G>A (p.Glu2567Lys) c.7669G>A (p.Glu2557Lys) c.7624G>A (p.Glu2542Lys) c.7219G>A (p.Glu2407Lys) c.6577G>A (p.Glu2193Lys) c.4087G>A (p.Glu1363Lys) | |
| 10 | g.71802979G>C | CA377160634 | CDH23 | c.7564G>C (p.Glu2522Gln) c.1497G>C (n.1497G>C) c.1161G>C (n.1161G>C) c.7579G>C (p.Glu2527Gln) c.844G>C (p.Glu282Gln) n.1100G>C c.7759G>C (p.Glu2587Gln) c.7693G>C (p.Glu2565Gln) c.7756G>C (p.Glu2586Gln) c.7753G>C (p.Glu2585Gln) c.7699G>C (p.Glu2567Gln) c.7669G>C (p.Glu2557Gln) c.7624G>C (p.Glu2542Gln) c.7219G>C (p.Glu2407Gln) c.6577G>C (p.Glu2193Gln) c.4087G>C (p.Glu1363Gln) | |
| 10 | g.71802979G>T | CA377160636 | CDH23 | c.7564G>T (p.Glu2522Ter) c.1497G>T (n.1497G>T) c.1161G>T (n.1161G>T) c.7579G>T (p.Glu2527Ter) c.844G>T (p.Glu282Ter) n.1100G>T c.7759G>T (p.Glu2587Ter) c.7693G>T (p.Glu2565Ter) c.7756G>T (p.Glu2586Ter) c.7753G>T (p.Glu2585Ter) c.7699G>T (p.Glu2567Ter) c.7669G>T (p.Glu2557Ter) c.7624G>T (p.Glu2542Ter) c.7219G>T (p.Glu2407Ter) c.6577G>T (p.Glu2193Ter) c.4087G>T (p.Glu1363Ter) | |
| 10 | g.71802980A>C | CA377160638 | CDH23 | c.7565A>C (p.Glu2522Ala) c.1498A>C (n.1498A>C) c.1162A>C (n.1162A>C) c.7580A>C (p.Glu2527Ala) c.845A>C (p.Glu282Ala) n.1101A>C c.7760A>C (p.Glu2587Ala) c.7694A>C (p.Glu2565Ala) c.7757A>C (p.Glu2586Ala) c.7754A>C (p.Glu2585Ala) c.7700A>C (p.Glu2567Ala) c.7670A>C (p.Glu2557Ala) c.7625A>C (p.Glu2542Ala) c.7220A>C (p.Glu2407Ala) c.6578A>C (p.Glu2193Ala) c.4088A>C (p.Glu1363Ala) | |
| 10 | g.71802980A>G | CA377160640 | CDH23 | c.7565A>G (p.Glu2522Gly) c.1498A>G (n.1498A>G) c.1162A>G (n.1162A>G) c.7580A>G (p.Glu2527Gly) c.845A>G (p.Glu282Gly) n.1101A>G c.7760A>G (p.Glu2587Gly) c.7694A>G (p.Glu2565Gly) c.7757A>G (p.Glu2586Gly) c.7754A>G (p.Glu2585Gly) c.7700A>G (p.Glu2567Gly) c.7670A>G (p.Glu2557Gly) c.7625A>G (p.Glu2542Gly) c.7220A>G (p.Glu2407Gly) c.6578A>G (p.Glu2193Gly) c.4088A>G (p.Glu1363Gly) | |
| 10 | g.71802980A>T | CA377160642 | CDH23 | c.7565A>T (p.Glu2522Val) c.1498A>T (n.1498A>T) c.1162A>T (n.1162A>T) c.7580A>T (p.Glu2527Val) c.845A>T (p.Glu282Val) n.1101A>T c.7760A>T (p.Glu2587Val) c.7694A>T (p.Glu2565Val) c.7757A>T (p.Glu2586Val) c.7754A>T (p.Glu2585Val) c.7700A>T (p.Glu2567Val) c.7670A>T (p.Glu2557Val) c.7625A>T (p.Glu2542Val) c.7220A>T (p.Glu2407Val) c.6578A>T (p.Glu2193Val) c.4088A>T (p.Glu1363Val) | |
| 10 | g.71802981G>A | CA470062483 | CDH23 | c.7566G>A (p.Glu2522=) c.1499G>A (n.1499G>A) c.1163G>A (n.1163G>A) c.7581G>A (p.Glu2527=) c.846G>A (p.Glu282=) n.1102G>A c.7761G>A (p.Glu2587=) c.7695G>A (p.Glu2565=) c.7758G>A (p.Glu2586=) c.7755G>A (p.Glu2585=) c.7701G>A (p.Glu2567=) c.7671G>A (p.Glu2557=) c.7626G>A (p.Glu2542=) c.7221G>A (p.Glu2407=) c.6579G>A (p.Glu2193=) c.4089G>A (p.Glu1363=) | |
| 10 | g.71802981G>C | CA377160645 | CDH23 | c.7566G>C (p.Glu2522Asp) c.1499G>C (n.1499G>C) c.1163G>C (n.1163G>C) c.7581G>C (p.Glu2527Asp) c.846G>C (p.Glu282Asp) n.1102G>C c.7761G>C (p.Glu2587Asp) c.7695G>C (p.Glu2565Asp) c.7758G>C (p.Glu2586Asp) c.7755G>C (p.Glu2585Asp) c.7701G>C (p.Glu2567Asp) c.7671G>C (p.Glu2557Asp) c.7626G>C (p.Glu2542Asp) c.7221G>C (p.Glu2407Asp) c.6579G>C (p.Glu2193Asp) c.4089G>C (p.Glu1363Asp) | dbSNP |
| 10 | g.71802981G= | CA1918880416 | CDH23 | c.7566G= (p.Glu2522=) c.1499G= (n.1499G=) c.1163G= (n.1163G=) c.7581G= (p.Glu2527=) c.846G= (p.Glu282=) n.1102G= c.7761G= (p.Glu2587=) c.7695G= (p.Glu2565=) c.7758G= (p.Glu2586=) c.7755G= (p.Glu2585=) c.7701G= (p.Glu2567=) c.7671G= (p.Glu2557=) c.7626G= (p.Glu2542=) c.7221G= (p.Glu2407=) c.6579G= (p.Glu2193=) c.4089G= (p.Glu1363=) | |
| 10 | g.71802981G>T | CA377160646 | CDH23 | c.7566G>T (p.Glu2522Asp) c.1499G>T (n.1499G>T) c.1163G>T (n.1163G>T) c.7581G>T (p.Glu2527Asp) c.846G>T (p.Glu282Asp) n.1102G>T c.7761G>T (p.Glu2587Asp) c.7695G>T (p.Glu2565Asp) c.7758G>T (p.Glu2586Asp) c.7755G>T (p.Glu2585Asp) c.7701G>T (p.Glu2567Asp) c.7671G>T (p.Glu2557Asp) c.7626G>T (p.Glu2542Asp) c.7221G>T (p.Glu2407Asp) c.6579G>T (p.Glu2193Asp) c.4089G>T (p.Glu1363Asp) | |
| 10 | g.71802982C>A | CA377160649 | CDH23 | c.7567C>A (p.Pro2523Thr) c.1500C>A (n.1500C>A) c.1164C>A (n.1164C>A) c.7582C>A (p.Pro2528Thr) c.847C>A (p.Pro283Thr) n.1103C>A c.7762C>A (p.Pro2588Thr) c.7696C>A (p.Pro2566Thr) c.7759C>A (p.Pro2587Thr) c.7756C>A (p.Pro2586Thr) c.7702C>A (p.Pro2568Thr) c.7672C>A (p.Pro2558Thr) c.7627C>A (p.Pro2543Thr) c.7222C>A (p.Pro2408Thr) c.6580C>A (p.Pro2194Thr) c.4090C>A (p.Pro1364Thr) | gnomAD v4 |
| 10 | g.71802982C= | CA1918880417 | CDH23 | c.7567C= (p.Pro2523=) c.1500C= (n.1500C=) c.1164C= (n.1164C=) c.7582C= (p.Pro2528=) c.847C= (p.Pro283=) n.1103C= c.7762C= (p.Pro2588=) c.7696C= (p.Pro2566=) c.7759C= (p.Pro2587=) c.7756C= (p.Pro2586=) c.7702C= (p.Pro2568=) c.7672C= (p.Pro2558=) c.7627C= (p.Pro2543=) c.7222C= (p.Pro2408=) c.6580C= (p.Pro2194=) c.4090C= (p.Pro1364=) | |
| 10 | g.71802982C>G | CA377160650 | CDH23 | c.7567C>G (p.Pro2523Ala) c.1500C>G (n.1500C>G) c.1164C>G (n.1164C>G) c.7582C>G (p.Pro2528Ala) c.847C>G (p.Pro283Ala) n.1103C>G c.7762C>G (p.Pro2588Ala) c.7696C>G (p.Pro2566Ala) c.7759C>G (p.Pro2587Ala) c.7756C>G (p.Pro2586Ala) c.7702C>G (p.Pro2568Ala) c.7672C>G (p.Pro2558Ala) c.7627C>G (p.Pro2543Ala) c.7222C>G (p.Pro2408Ala) c.6580C>G (p.Pro2194Ala) c.4090C>G (p.Pro1364Ala) | |
| 10 | g.71802982C>T | CA5546376 | CDH23 | c.7567C>T (p.Pro2523Ser) c.1500C>T (n.1500C>T) c.1164C>T (n.1164C>T) c.7582C>T (p.Pro2528Ser) c.847C>T (p.Pro283Ser) n.1103C>T c.7762C>T (p.Pro2588Ser) c.7696C>T (p.Pro2566Ser) c.7759C>T (p.Pro2587Ser) c.7756C>T (p.Pro2586Ser) c.7702C>T (p.Pro2568Ser) c.7672C>T (p.Pro2558Ser) c.7627C>T (p.Pro2543Ser) c.7222C>T (p.Pro2408Ser) c.6580C>T (p.Pro2194Ser) c.4090C>T (p.Pro1364Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 10 | g.71802983del | CA2695199541 | CDH23 | c.7568del (p.Pro2523ArgfsTer9) c.1501del (n.1501del) c.1165del (n.1165del) c.7583del (p.Pro2528ArgfsTer9) c.848del (p.Pro283ArgfsTer9) n.1104del c.7763del (p.Pro2588ArgfsTer9) c.7697del (p.Pro2566ArgfsTer9) c.7760del (p.Pro2587ArgfsTer9) c.7757del (p.Pro2586ArgfsTer9) c.7703del (p.Pro2568ArgfsTer9) c.7673del (p.Pro2558ArgfsTer9) c.7628del (p.Pro2543ArgfsTer9) c.7223del (p.Pro2408ArgfsTer9) c.6581del (p.Pro2194ArgfsTer9) c.4091del (p.Pro1364ArgfsTer9) | ClinVar |
| 10 | g.71802983C>A | CA377160651 | CDH23 | c.7568C>A (p.Pro2523Gln) c.1501C>A (n.1501C>A) c.1165C>A (n.1165C>A) c.7583C>A (p.Pro2528Gln) c.848C>A (p.Pro283Gln) n.1104C>A c.7763C>A (p.Pro2588Gln) c.7697C>A (p.Pro2566Gln) c.7760C>A (p.Pro2587Gln) c.7757C>A (p.Pro2586Gln) c.7703C>A (p.Pro2568Gln) c.7673C>A (p.Pro2558Gln) c.7628C>A (p.Pro2543Gln) c.7223C>A (p.Pro2408Gln) c.6581C>A (p.Pro2194Gln) c.4091C>A (p.Pro1364Gln) | COSMIC |
| 10 | g.71802983C= | CA1918880418 | CDH23 | c.7568C= (p.Pro2523=) c.1501C= (n.1501C=) c.1165C= (n.1165C=) c.7583C= (p.Pro2528=) c.848C= (p.Pro283=) n.1104C= c.7763C= (p.Pro2588=) c.7697C= (p.Pro2566=) c.7760C= (p.Pro2587=) c.7757C= (p.Pro2586=) c.7703C= (p.Pro2568=) c.7673C= (p.Pro2558=) c.7628C= (p.Pro2543=) c.7223C= (p.Pro2408=) c.6581C= (p.Pro2194=) c.4091C= (p.Pro1364=) | |
| 10 | g.71802983C>G | CA377160652 | CDH23 | c.7568C>G (p.Pro2523Arg) c.1501C>G (n.1501C>G) c.1165C>G (n.1165C>G) c.7583C>G (p.Pro2528Arg) c.848C>G (p.Pro283Arg) n.1104C>G c.7763C>G (p.Pro2588Arg) c.7697C>G (p.Pro2566Arg) c.7760C>G (p.Pro2587Arg) c.7757C>G (p.Pro2586Arg) c.7703C>G (p.Pro2568Arg) c.7673C>G (p.Pro2558Arg) c.7628C>G (p.Pro2543Arg) c.7223C>G (p.Pro2408Arg) c.6581C>G (p.Pro2194Arg) c.4091C>G (p.Pro1364Arg) | COSMIC |
| 10 | g.71802983C>T | CA5546377 | CDH23 | c.7568C>T (p.Pro2523Leu) c.1501C>T (n.1501C>T) c.1165C>T (n.1165C>T) c.7583C>T (p.Pro2528Leu) c.848C>T (p.Pro283Leu) n.1104C>T c.7763C>T (p.Pro2588Leu) c.7697C>T (p.Pro2566Leu) c.7760C>T (p.Pro2587Leu) c.7757C>T (p.Pro2586Leu) c.7703C>T (p.Pro2568Leu) c.7673C>T (p.Pro2558Leu) c.7628C>T (p.Pro2543Leu) c.7223C>T (p.Pro2408Leu) c.6581C>T (p.Pro2194Leu) c.4091C>T (p.Pro1364Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.71802984G>A | CA5546378 | CDH23 | c.7569G>A (p.Pro2523=) c.1502G>A (n.1502G>A) c.1166G>A (n.1166G>A) c.7584G>A (p.Pro2528=) c.849G>A (p.Pro283=) n.1105G>A c.7764G>A (p.Pro2588=) c.7698G>A (p.Pro2566=) c.7761G>A (p.Pro2587=) c.7758G>A (p.Pro2586=) c.7704G>A (p.Pro2568=) c.7674G>A (p.Pro2558=) c.7629G>A (p.Pro2543=) c.7224G>A (p.Pro2408=) c.6582G>A (p.Pro2194=) c.4092G>A (p.Pro1364=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.71802984G>C | CA470062484 | CDH23 | c.7569G>C (p.Pro2523=) c.1502G>C (n.1502G>C) c.1166G>C (n.1166G>C) c.7584G>C (p.Pro2528=) c.849G>C (p.Pro283=) n.1105G>C c.7764G>C (p.Pro2588=) c.7698G>C (p.Pro2566=) c.7761G>C (p.Pro2587=) c.7758G>C (p.Pro2586=) c.7704G>C (p.Pro2568=) c.7674G>C (p.Pro2558=) c.7629G>C (p.Pro2543=) c.7224G>C (p.Pro2408=) c.6582G>C (p.Pro2194=) c.4092G>C (p.Pro1364=) | |
| 10 | g.71802984G= | CA1918880419 | CDH23 | c.7569G= (p.Pro2523=) c.1502G= (n.1502G=) c.1166G= (n.1166G=) c.7584G= (p.Pro2528=) c.849G= (p.Pro283=) n.1105G= c.7764G= (p.Pro2588=) c.7698G= (p.Pro2566=) c.7761G= (p.Pro2587=) c.7758G= (p.Pro2586=) c.7704G= (p.Pro2568=) c.7674G= (p.Pro2558=) c.7629G= (p.Pro2543=) c.7224G= (p.Pro2408=) c.6582G= (p.Pro2194=) c.4092G= (p.Pro1364=) | |
| 10 | g.71802984G>T | CA470062485 | CDH23 | c.7569G>T (p.Pro2523=) c.1502G>T (n.1502G>T) c.1166G>T (n.1166G>T) c.7584G>T (p.Pro2528=) c.849G>T (p.Pro283=) n.1105G>T c.7764G>T (p.Pro2588=) c.7698G>T (p.Pro2566=) c.7761G>T (p.Pro2587=) c.7758G>T (p.Pro2586=) c.7704G>T (p.Pro2568=) c.7674G>T (p.Pro2558=) c.7629G>T (p.Pro2543=) c.7224G>T (p.Pro2408=) c.6582G>T (p.Pro2194=) c.4092G>T (p.Pro1364=) | |
| 10 | g.71802985G>A | CA377160656 | CDH23 | c.7570G>A (p.Ala2524Thr) c.1503G>A (n.1503G>A) c.1167G>A (n.1167G>A) c.7585G>A (p.Ala2529Thr) c.850G>A (p.Ala284Thr) n.1106G>A c.7765G>A (p.Ala2589Thr) c.7699G>A (p.Ala2567Thr) c.7762G>A (p.Ala2588Thr) c.7759G>A (p.Ala2587Thr) c.7705G>A (p.Ala2569Thr) c.7675G>A (p.Ala2559Thr) c.7630G>A (p.Ala2544Thr) c.7225G>A (p.Ala2409Thr) c.6583G>A (p.Ala2195Thr) c.4093G>A (p.Ala1365Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.71802985G>C | CA377160657 | CDH23 | c.7570G>C (p.Ala2524Pro) c.1503G>C (n.1503G>C) c.1167G>C (n.1167G>C) c.7585G>C (p.Ala2529Pro) c.850G>C (p.Ala284Pro) n.1106G>C c.7765G>C (p.Ala2589Pro) c.7699G>C (p.Ala2567Pro) c.7762G>C (p.Ala2588Pro) c.7759G>C (p.Ala2587Pro) c.7705G>C (p.Ala2569Pro) c.7675G>C (p.Ala2559Pro) c.7630G>C (p.Ala2544Pro) c.7225G>C (p.Ala2409Pro) c.6583G>C (p.Ala2195Pro) c.4093G>C (p.Ala1365Pro) | |
| 10 | g.71802985G= | CA1918880420 | CDH23 | c.7570G= (p.Ala2524=) c.1503G= (n.1503G=) c.1167G= (n.1167G=) c.7585G= (p.Ala2529=) c.850G= (p.Ala284=) n.1106G= c.7765G= (p.Ala2589=) c.7699G= (p.Ala2567=) c.7762G= (p.Ala2588=) c.7759G= (p.Ala2587=) c.7705G= (p.Ala2569=) c.7675G= (p.Ala2559=) c.7630G= (p.Ala2544=) c.7225G= (p.Ala2409=) c.6583G= (p.Ala2195=) c.4093G= (p.Ala1365=) | |
| 10 | g.71802985G>T | CA377160659 | CDH23 | c.7570G>T (p.Ala2524Ser) c.1503G>T (n.1503G>T) c.1167G>T (n.1167G>T) c.7585G>T (p.Ala2529Ser) c.850G>T (p.Ala284Ser) n.1106G>T c.7765G>T (p.Ala2589Ser) c.7699G>T (p.Ala2567Ser) c.7762G>T (p.Ala2588Ser) c.7759G>T (p.Ala2587Ser) c.7705G>T (p.Ala2569Ser) c.7675G>T (p.Ala2559Ser) c.7630G>T (p.Ala2544Ser) c.7225G>T (p.Ala2409Ser) c.6583G>T (p.Ala2195Ser) c.4093G>T (p.Ala1365Ser) | |
| 10 | g.71802986C>A | CA377160662 | CDH23 | c.7571C>A (p.Ala2524Glu) c.1504C>A (n.1504C>A) c.1168C>A (n.1168C>A) c.7586C>A (p.Ala2529Glu) c.851C>A (p.Ala284Glu) n.1107C>A c.7766C>A (p.Ala2589Glu) c.7700C>A (p.Ala2567Glu) c.7763C>A (p.Ala2588Glu) c.7760C>A (p.Ala2587Glu) c.7706C>A (p.Ala2569Glu) c.7676C>A (p.Ala2559Glu) c.7631C>A (p.Ala2544Glu) c.7226C>A (p.Ala2409Glu) c.6584C>A (p.Ala2195Glu) c.4094C>A (p.Ala1365Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.71802986C= | CA1918880421 | CDH23 | c.7571C= (p.Ala2524=) c.1504C= (n.1504C=) c.1168C= (n.1168C=) c.7586C= (p.Ala2529=) c.851C= (p.Ala284=) n.1107C= c.7766C= (p.Ala2589=) c.7700C= (p.Ala2567=) c.7763C= (p.Ala2588=) c.7760C= (p.Ala2587=) c.7706C= (p.Ala2569=) c.7676C= (p.Ala2559=) c.7631C= (p.Ala2544=) c.7226C= (p.Ala2409=) c.6584C= (p.Ala2195=) c.4094C= (p.Ala1365=) | |
| 10 | g.71802986C>G | CA377160664 | CDH23 | c.7571C>G (p.Ala2524Gly) c.1504C>G (n.1504C>G) c.1168C>G (n.1168C>G) c.7586C>G (p.Ala2529Gly) c.851C>G (p.Ala284Gly) n.1107C>G c.7766C>G (p.Ala2589Gly) c.7700C>G (p.Ala2567Gly) c.7763C>G (p.Ala2588Gly) c.7760C>G (p.Ala2587Gly) c.7706C>G (p.Ala2569Gly) c.7676C>G (p.Ala2559Gly) c.7631C>G (p.Ala2544Gly) c.7226C>G (p.Ala2409Gly) c.6584C>G (p.Ala2195Gly) c.4094C>G (p.Ala1365Gly) | |
| 10 | g.71802986C>T | CA5546379 | CDH23 | c.7571C>T (p.Ala2524Val) c.1504C>T (n.1504C>T) c.1168C>T (n.1168C>T) c.7586C>T (p.Ala2529Val) c.851C>T (p.Ala284Val) n.1107C>T c.7766C>T (p.Ala2589Val) c.7700C>T (p.Ala2567Val) c.7763C>T (p.Ala2588Val) c.7760C>T (p.Ala2587Val) c.7706C>T (p.Ala2569Val) c.7676C>T (p.Ala2559Val) c.7631C>T (p.Ala2544Val) c.7226C>T (p.Ala2409Val) c.6584C>T (p.Ala2195Val) c.4094C>T (p.Ala1365Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.71802987G>A | CA137575 | CDH23 | c.7572G>A (p.Ala2524=) c.1505G>A (n.1505G>A) c.1169G>A (n.1169G>A) c.7587G>A (p.Ala2529=) c.852G>A (p.Ala284=) n.1108G>A c.7767G>A (p.Ala2589=) c.7701G>A (p.Ala2567=) c.7764G>A (p.Ala2588=) c.7761G>A (p.Ala2587=) c.7707G>A (p.Ala2569=) c.7677G>A (p.Ala2559=) c.7632G>A (p.Ala2544=) c.7227G>A (p.Ala2409=) c.6585G>A (p.Ala2195=) c.4095G>A (p.Ala1365=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.71802987G>C | CA470062486 | CDH23 | c.7572G>C (p.Ala2524=) c.1505G>C (n.1505G>C) c.1169G>C (n.1169G>C) c.7587G>C (p.Ala2529=) c.852G>C (p.Ala284=) n.1108G>C c.7767G>C (p.Ala2589=) c.7701G>C (p.Ala2567=) c.7764G>C (p.Ala2588=) c.7761G>C (p.Ala2587=) c.7707G>C (p.Ala2569=) c.7677G>C (p.Ala2559=) c.7632G>C (p.Ala2544=) c.7227G>C (p.Ala2409=) c.6585G>C (p.Ala2195=) c.4095G>C (p.Ala1365=) | |
| 10 | g.71802987G= | CA1630848353 | CDH23 | c.7572G= (p.Ala2524=) c.1505G= (n.1505G=) c.1169G= (n.1169G=) c.7587G= (p.Ala2529=) c.852G= (p.Ala284=) n.1108G= c.7767G= (p.Ala2589=) c.7701G= (p.Ala2567=) c.7764G= (p.Ala2588=) c.7761G= (p.Ala2587=) c.7707G= (p.Ala2569=) c.7677G= (p.Ala2559=) c.7632G= (p.Ala2544=) c.7227G= (p.Ala2409=) c.6585G= (p.Ala2195=) c.4095G= (p.Ala1365=) | |
| 10 | g.71802987G>T | CA470062487 | CDH23 | c.7572G>T (p.Ala2524=) c.1505G>T (n.1505G>T) c.1169G>T (n.1169G>T) c.7587G>T (p.Ala2529=) c.852G>T (p.Ala284=) n.1108G>T c.7767G>T (p.Ala2589=) c.7701G>T (p.Ala2567=) c.7764G>T (p.Ala2588=) c.7761G>T (p.Ala2587=) c.7707G>T (p.Ala2569=) c.7677G>T (p.Ala2559=) c.7632G>T (p.Ala2544=) c.7227G>T (p.Ala2409=) c.6585G>T (p.Ala2195=) c.4095G>T (p.Ala1365=) | dbSNP |
| 10 | g.71802988G>A | CA377160672 | CDH23 | c.7573G>A (p.Gly2525Ser) c.1506G>A (n.1506G>A) c.1170G>A (n.1170G>A) c.7588G>A (p.Gly2530Ser) c.853G>A (p.Gly285Ser) n.1109G>A c.7768G>A (p.Gly2590Ser) c.7702G>A (p.Gly2568Ser) c.7765G>A (p.Gly2589Ser) c.7762G>A (p.Gly2588Ser) c.7708G>A (p.Gly2570Ser) c.7678G>A (p.Gly2560Ser) c.7633G>A (p.Gly2545Ser) c.7228G>A (p.Gly2410Ser) c.6586G>A (p.Gly2196Ser) c.4096G>A (p.Gly1366Ser) | |
| 10 | g.71802988G>C | CA377160670 | CDH23 | c.7573G>C (p.Gly2525Arg) c.1506G>C (n.1506G>C) c.1170G>C (n.1170G>C) c.7588G>C (p.Gly2530Arg) c.853G>C (p.Gly285Arg) n.1109G>C c.7768G>C (p.Gly2590Arg) c.7702G>C (p.Gly2568Arg) c.7765G>C (p.Gly2589Arg) c.7762G>C (p.Gly2588Arg) c.7708G>C (p.Gly2570Arg) c.7678G>C (p.Gly2560Arg) c.7633G>C (p.Gly2545Arg) c.7228G>C (p.Gly2410Arg) c.6586G>C (p.Gly2196Arg) c.4096G>C (p.Gly1366Arg) | |
| 10 | g.71802988G>T | CA377160668 | CDH23 | c.7573G>T (p.Gly2525Cys) c.1506G>T (n.1506G>T) c.1170G>T (n.1170G>T) c.7588G>T (p.Gly2530Cys) c.853G>T (p.Gly285Cys) n.1109G>T c.7768G>T (p.Gly2590Cys) c.7702G>T (p.Gly2568Cys) c.7765G>T (p.Gly2589Cys) c.7762G>T (p.Gly2588Cys) c.7708G>T (p.Gly2570Cys) c.7678G>T (p.Gly2560Cys) c.7633G>T (p.Gly2545Cys) c.7228G>T (p.Gly2410Cys) c.6586G>T (p.Gly2196Cys) c.4096G>T (p.Gly1366Cys) | |
| 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=) |