| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.71793420C>A | CA2580946650 | CDH23 | c.6492C>A (p.Ile2164=) c.6507C>A (p.Ile2169=) c.6687C>A (p.Ile2229=) c.6621C>A (p.Ile2207=) c.6684C>A (p.Ile2228=) c.6681C>A (p.Ile2227=) c.6627C>A (p.Ile2209=) c.6597C>A (p.Ile2199=) c.6552C>A (p.Ile2184=) c.6147C>A (p.Ile2049=) c.5505C>A (p.Ile1835=) c.3015C>A (p.Ile1005=) n.6930C>A | dbSNP |
| 10 | g.71793420C= | CA1918874458 | CDH23 | c.6492C= (p.Ile2164=) c.6507C= (p.Ile2169=) c.6687C= (p.Ile2229=) c.6621C= (p.Ile2207=) c.6684C= (p.Ile2228=) c.6681C= (p.Ile2227=) c.6627C= (p.Ile2209=) c.6597C= (p.Ile2199=) c.6552C= (p.Ile2184=) c.6147C= (p.Ile2049=) c.5505C= (p.Ile1835=) c.3015C= (p.Ile1005=) n.6930C= | |
| 10 | g.71793420C>G | CA377155178 | CDH23 | c.6492C>G (p.Ile2164Met) c.6507C>G (p.Ile2169Met) c.6687C>G (p.Ile2229Met) c.6621C>G (p.Ile2207Met) c.6684C>G (p.Ile2228Met) c.6681C>G (p.Ile2227Met) c.6627C>G (p.Ile2209Met) c.6597C>G (p.Ile2199Met) c.6552C>G (p.Ile2184Met) c.6147C>G (p.Ile2049Met) c.5505C>G (p.Ile1835Met) c.3015C>G (p.Ile1005Met) n.6930C>G | gnomAD v4 |
| 10 | g.71793420C>T | CA137537 | CDH23 | c.6492C>T (p.Ile2164=) c.6507C>T (p.Ile2169=) c.6687C>T (p.Ile2229=) c.6621C>T (p.Ile2207=) c.6684C>T (p.Ile2228=) c.6681C>T (p.Ile2227=) c.6627C>T (p.Ile2209=) c.6597C>T (p.Ile2199=) c.6552C>T (p.Ile2184=) c.6147C>T (p.Ile2049=) c.5505C>T (p.Ile1835=) c.3015C>T (p.Ile1005=) n.6930C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.71793421G>A | CA5546094 | CDH23 | c.6493G>A (p.Asp2165Asn) c.6508G>A (p.Asp2170Asn) c.6688G>A (p.Asp2230Asn) c.6622G>A (p.Asp2208Asn) c.6685G>A (p.Asp2229Asn) c.6682G>A (p.Asp2228Asn) c.6628G>A (p.Asp2210Asn) c.6598G>A (p.Asp2200Asn) c.6553G>A (p.Asp2185Asn) c.6148G>A (p.Asp2050Asn) c.5506G>A (p.Asp1836Asn) c.3016G>A (p.Asp1006Asn) n.6931G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.71793421G>C | CA377155179 | CDH23 | c.6493G>C (p.Asp2165His) c.6508G>C (p.Asp2170His) c.6688G>C (p.Asp2230His) c.6622G>C (p.Asp2208His) c.6685G>C (p.Asp2229His) c.6682G>C (p.Asp2228His) c.6628G>C (p.Asp2210His) c.6598G>C (p.Asp2200His) c.6553G>C (p.Asp2185His) c.6148G>C (p.Asp2050His) c.5506G>C (p.Asp1836His) c.3016G>C (p.Asp1006His) n.6931G>C | gnomAD v4 |
| 10 | g.71793421G= | CA1918874461 | CDH23 | c.6493G= (p.Asp2165=) c.6508G= (p.Asp2170=) c.6688G= (p.Asp2230=) c.6622G= (p.Asp2208=) c.6685G= (p.Asp2229=) c.6682G= (p.Asp2228=) c.6628G= (p.Asp2210=) c.6598G= (p.Asp2200=) c.6553G= (p.Asp2185=) c.6148G= (p.Asp2050=) c.5506G= (p.Asp1836=) c.3016G= (p.Asp1006=) n.6931G= | |
| 10 | g.71793421G>T | CA377155180 | CDH23 | c.6493G>T (p.Asp2165Tyr) c.6508G>T (p.Asp2170Tyr) c.6688G>T (p.Asp2230Tyr) c.6622G>T (p.Asp2208Tyr) c.6685G>T (p.Asp2229Tyr) c.6682G>T (p.Asp2228Tyr) c.6628G>T (p.Asp2210Tyr) c.6598G>T (p.Asp2200Tyr) c.6553G>T (p.Asp2185Tyr) c.6148G>T (p.Asp2050Tyr) c.5506G>T (p.Asp1836Tyr) c.3016G>T (p.Asp1006Tyr) n.6931G>T | gnomAD v4 |
| 10 | g.71793422A>C | CA377155181 | CDH23 | c.6494A>C (p.Asp2165Ala) c.6509A>C (p.Asp2170Ala) c.6689A>C (p.Asp2230Ala) c.6623A>C (p.Asp2208Ala) c.6686A>C (p.Asp2229Ala) c.6683A>C (p.Asp2228Ala) c.6629A>C (p.Asp2210Ala) c.6599A>C (p.Asp2200Ala) c.6554A>C (p.Asp2185Ala) c.6149A>C (p.Asp2050Ala) c.5507A>C (p.Asp1836Ala) c.3017A>C (p.Asp1006Ala) n.6932A>C | |
| 10 | g.71793422A>G | CA377155182 | CDH23 | c.6494A>G (p.Asp2165Gly) c.6509A>G (p.Asp2170Gly) c.6689A>G (p.Asp2230Gly) c.6623A>G (p.Asp2208Gly) c.6686A>G (p.Asp2229Gly) c.6683A>G (p.Asp2228Gly) c.6629A>G (p.Asp2210Gly) c.6599A>G (p.Asp2200Gly) c.6554A>G (p.Asp2185Gly) c.6149A>G (p.Asp2050Gly) c.5507A>G (p.Asp1836Gly) c.3017A>G (p.Asp1006Gly) n.6932A>G | gnomAD v4 COSMIC |
| 10 | g.71793422A>T | CA377155183 | CDH23 | c.6494A>T (p.Asp2165Val) c.6509A>T (p.Asp2170Val) c.6689A>T (p.Asp2230Val) c.6623A>T (p.Asp2208Val) c.6686A>T (p.Asp2229Val) c.6683A>T (p.Asp2228Val) c.6629A>T (p.Asp2210Val) c.6599A>T (p.Asp2200Val) c.6554A>T (p.Asp2185Val) c.6149A>T (p.Asp2050Val) c.5507A>T (p.Asp1836Val) c.3017A>T (p.Asp1006Val) n.6932A>T | |
| 10 | g.71793423T>A | CA377155184 | CDH23 | c.6495T>A (p.Asp2165Glu) c.6510T>A (p.Asp2170Glu) c.6690T>A (p.Asp2230Glu) c.6624T>A (p.Asp2208Glu) c.6687T>A (p.Asp2229Glu) c.6684T>A (p.Asp2228Glu) c.6630T>A (p.Asp2210Glu) c.6600T>A (p.Asp2200Glu) c.6555T>A (p.Asp2185Glu) c.6150T>A (p.Asp2050Glu) c.5508T>A (p.Asp1836Glu) c.3018T>A (p.Asp1006Glu) n.6933T>A | gnomAD v4 |
| 10 | g.71793423T>C | CA2499220352 | CDH23 | c.6495T>C (p.Asp2165=) c.6510T>C (p.Asp2170=) c.6690T>C (p.Asp2230=) c.6624T>C (p.Asp2208=) c.6687T>C (p.Asp2229=) c.6684T>C (p.Asp2228=) c.6630T>C (p.Asp2210=) c.6600T>C (p.Asp2200=) c.6555T>C (p.Asp2185=) c.6150T>C (p.Asp2050=) c.5508T>C (p.Asp1836=) c.3018T>C (p.Asp1006=) n.6933T>C | ClinVar dbSNP |
| 10 | g.71793423T>G | CA377155185 | CDH23 | c.6495T>G (p.Asp2165Glu) c.6510T>G (p.Asp2170Glu) c.6690T>G (p.Asp2230Glu) c.6624T>G (p.Asp2208Glu) c.6687T>G (p.Asp2229Glu) c.6684T>G (p.Asp2228Glu) c.6630T>G (p.Asp2210Glu) c.6600T>G (p.Asp2200Glu) c.6555T>G (p.Asp2185Glu) c.6150T>G (p.Asp2050Glu) c.5508T>G (p.Asp1836Glu) c.3018T>G (p.Asp1006Glu) n.6933T>G | |
| 10 | g.71793424G>A | CA377155187 | CDH23 | c.6496G>A (p.Asp2166Asn) c.6511G>A (p.Asp2171Asn) c.6691G>A (p.Asp2231Asn) c.6625G>A (p.Asp2209Asn) c.6688G>A (p.Asp2230Asn) c.6685G>A (p.Asp2229Asn) c.6631G>A (p.Asp2211Asn) c.6601G>A (p.Asp2201Asn) c.6556G>A (p.Asp2186Asn) c.6151G>A (p.Asp2051Asn) c.5509G>A (p.Asp1837Asn) c.3019G>A (p.Asp1007Asn) n.6934G>A | |
| 10 | g.71793424G>C | CA377155188 | CDH23 | c.6496G>C (p.Asp2166His) c.6511G>C (p.Asp2171His) c.6691G>C (p.Asp2231His) c.6625G>C (p.Asp2209His) c.6688G>C (p.Asp2230His) c.6685G>C (p.Asp2229His) c.6631G>C (p.Asp2211His) c.6601G>C (p.Asp2201His) c.6556G>C (p.Asp2186His) c.6151G>C (p.Asp2051His) c.5509G>C (p.Asp1837His) c.3019G>C (p.Asp1007His) n.6934G>C | |
| 10 | g.71793424G>T | CA377155186 | CDH23 | c.6496G>T (p.Asp2166Tyr) c.6511G>T (p.Asp2171Tyr) c.6691G>T (p.Asp2231Tyr) c.6625G>T (p.Asp2209Tyr) c.6688G>T (p.Asp2230Tyr) c.6685G>T (p.Asp2229Tyr) c.6631G>T (p.Asp2211Tyr) c.6601G>T (p.Asp2201Tyr) c.6556G>T (p.Asp2186Tyr) c.6151G>T (p.Asp2051Tyr) c.5509G>T (p.Asp1837Tyr) c.3019G>T (p.Asp1007Tyr) n.6934G>T | gnomAD v4 |
| 10 | g.71793425A>C | CA377155189 | CDH23 | c.6497A>C (p.Asp2166Ala) c.6512A>C (p.Asp2171Ala) c.6692A>C (p.Asp2231Ala) c.6626A>C (p.Asp2209Ala) c.6689A>C (p.Asp2230Ala) c.6686A>C (p.Asp2229Ala) c.6632A>C (p.Asp2211Ala) c.6602A>C (p.Asp2201Ala) c.6557A>C (p.Asp2186Ala) c.6152A>C (p.Asp2051Ala) c.5510A>C (p.Asp1837Ala) c.3020A>C (p.Asp1007Ala) n.6935A>C | |
| 10 | g.71793425A>G | CA377155191 | CDH23 | c.6497A>G (p.Asp2166Gly) c.6512A>G (p.Asp2171Gly) c.6692A>G (p.Asp2231Gly) c.6626A>G (p.Asp2209Gly) c.6689A>G (p.Asp2230Gly) c.6686A>G (p.Asp2229Gly) c.6632A>G (p.Asp2211Gly) c.6602A>G (p.Asp2201Gly) c.6557A>G (p.Asp2186Gly) c.6152A>G (p.Asp2051Gly) c.5510A>G (p.Asp1837Gly) c.3020A>G (p.Asp1007Gly) n.6935A>G | |
| 10 | g.71793425A>T | CA377155190 | CDH23 | c.6497A>T (p.Asp2166Val) c.6512A>T (p.Asp2171Val) c.6692A>T (p.Asp2231Val) c.6626A>T (p.Asp2209Val) c.6689A>T (p.Asp2230Val) c.6686A>T (p.Asp2229Val) c.6632A>T (p.Asp2211Val) c.6602A>T (p.Asp2201Val) c.6557A>T (p.Asp2186Val) c.6152A>T (p.Asp2051Val) c.5510A>T (p.Asp1837Val) c.3020A>T (p.Asp1007Val) n.6935A>T | |
| 10 | g.71793426C>A | CA377155192 | CDH23 | c.6498C>A (p.Asp2166Glu) c.6513C>A (p.Asp2171Glu) c.6693C>A (p.Asp2231Glu) c.6627C>A (p.Asp2209Glu) c.6690C>A (p.Asp2230Glu) c.6687C>A (p.Asp2229Glu) c.6633C>A (p.Asp2211Glu) c.6603C>A (p.Asp2201Glu) c.6558C>A (p.Asp2186Glu) c.6153C>A (p.Asp2051Glu) c.5511C>A (p.Asp1837Glu) c.3021C>A (p.Asp1007Glu) n.6936C>A | |
| 10 | g.71793426C= | CA1918874464 | CDH23 | c.6498C= (p.Asp2166=) c.6513C= (p.Asp2171=) c.6693C= (p.Asp2231=) c.6627C= (p.Asp2209=) c.6690C= (p.Asp2230=) c.6687C= (p.Asp2229=) c.6633C= (p.Asp2211=) c.6603C= (p.Asp2201=) c.6558C= (p.Asp2186=) c.6153C= (p.Asp2051=) c.5511C= (p.Asp1837=) c.3021C= (p.Asp1007=) n.6936C= | |
| 10 | g.71793426C>G | CA377155193 | CDH23 | c.6498C>G (p.Asp2166Glu) c.6513C>G (p.Asp2171Glu) c.6693C>G (p.Asp2231Glu) c.6627C>G (p.Asp2209Glu) c.6690C>G (p.Asp2230Glu) c.6687C>G (p.Asp2229Glu) c.6633C>G (p.Asp2211Glu) c.6603C>G (p.Asp2201Glu) c.6558C>G (p.Asp2186Glu) c.6153C>G (p.Asp2051Glu) c.5511C>G (p.Asp1837Glu) c.3021C>G (p.Asp1007Glu) n.6936C>G | |
| 10 | g.71793426C>T | CA1918874465 | CDH23 | c.6498C>T (p.Asp2166=) c.6513C>T (p.Asp2171=) c.6693C>T (p.Asp2231=) c.6627C>T (p.Asp2209=) c.6690C>T (p.Asp2230=) c.6687C>T (p.Asp2229=) c.6633C>T (p.Asp2211=) c.6603C>T (p.Asp2201=) c.6558C>T (p.Asp2186=) c.6153C>T (p.Asp2051=) c.5511C>T (p.Asp1837=) c.3021C>T (p.Asp1007=) n.6936C>T | dbSNP |
| 10 | g.71793427A= | CA1918874467 | CDH23 | c.6499A= (p.Ile2167=) c.6514A= (p.Ile2172=) c.6694A= (p.Ile2232=) c.6628A= (p.Ile2210=) c.6691A= (p.Ile2231=) c.6688A= (p.Ile2230=) c.6634A= (p.Ile2212=) c.6604A= (p.Ile2202=) c.6559A= (p.Ile2187=) c.6154A= (p.Ile2052=) c.5512A= (p.Ile1838=) c.3022A= (p.Ile1008=) n.6937A= | |
| 10 | g.71793427A>C | CA377155194 | CDH23 | c.6499A>C (p.Ile2167Leu) c.6514A>C (p.Ile2172Leu) c.6694A>C (p.Ile2232Leu) c.6628A>C (p.Ile2210Leu) c.6691A>C (p.Ile2231Leu) c.6688A>C (p.Ile2230Leu) c.6634A>C (p.Ile2212Leu) c.6604A>C (p.Ile2202Leu) c.6559A>C (p.Ile2187Leu) c.6154A>C (p.Ile2052Leu) c.5512A>C (p.Ile1838Leu) c.3022A>C (p.Ile1008Leu) n.6937A>C | ClinVar gnomAD v4 |
| 10 | g.71793427A>G | CA377155195 | CDH23 | c.6499A>G (p.Ile2167Val) c.6514A>G (p.Ile2172Val) c.6694A>G (p.Ile2232Val) c.6628A>G (p.Ile2210Val) c.6691A>G (p.Ile2231Val) c.6688A>G (p.Ile2230Val) c.6634A>G (p.Ile2212Val) c.6604A>G (p.Ile2202Val) c.6559A>G (p.Ile2187Val) c.6154A>G (p.Ile2052Val) c.5512A>G (p.Ile1838Val) c.3022A>G (p.Ile1008Val) n.6937A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.71793427A>T | CA377155196 | CDH23 | c.6499A>T (p.Ile2167Phe) c.6514A>T (p.Ile2172Phe) c.6694A>T (p.Ile2232Phe) c.6628A>T (p.Ile2210Phe) c.6691A>T (p.Ile2231Phe) c.6688A>T (p.Ile2230Phe) c.6634A>T (p.Ile2212Phe) c.6604A>T (p.Ile2202Phe) c.6559A>T (p.Ile2187Phe) c.6154A>T (p.Ile2052Phe) c.5512A>T (p.Ile1838Phe) c.3022A>T (p.Ile1008Phe) n.6937A>T | |
| 10 | g.71793428T>A | CA377155197 | CDH23 | c.6500T>A (p.Ile2167Asn) c.6515T>A (p.Ile2172Asn) c.6695T>A (p.Ile2232Asn) c.6629T>A (p.Ile2210Asn) c.6692T>A (p.Ile2231Asn) c.6689T>A (p.Ile2230Asn) c.6635T>A (p.Ile2212Asn) c.6605T>A (p.Ile2202Asn) c.6560T>A (p.Ile2187Asn) c.6155T>A (p.Ile2052Asn) c.5513T>A (p.Ile1838Asn) c.3023T>A (p.Ile1008Asn) n.6938T>A | |
| 10 | g.71793428T>C | CA377155198 | CDH23 | c.6500T>C (p.Ile2167Thr) c.6515T>C (p.Ile2172Thr) c.6695T>C (p.Ile2232Thr) c.6629T>C (p.Ile2210Thr) c.6692T>C (p.Ile2231Thr) c.6689T>C (p.Ile2230Thr) c.6635T>C (p.Ile2212Thr) c.6605T>C (p.Ile2202Thr) c.6560T>C (p.Ile2187Thr) c.6155T>C (p.Ile2052Thr) c.5513T>C (p.Ile1838Thr) c.3023T>C (p.Ile1008Thr) n.6938T>C | COSMIC |
| 10 | g.71793428T>G | CA377155199 | CDH23 | c.6500T>G (p.Ile2167Ser) c.6515T>G (p.Ile2172Ser) c.6695T>G (p.Ile2232Ser) c.6629T>G (p.Ile2210Ser) c.6692T>G (p.Ile2231Ser) c.6689T>G (p.Ile2230Ser) c.6635T>G (p.Ile2212Ser) c.6605T>G (p.Ile2202Ser) c.6560T>G (p.Ile2187Ser) c.6155T>G (p.Ile2052Ser) c.5513T>G (p.Ile1838Ser) c.3023T>G (p.Ile1008Ser) n.6938T>G | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.71793428T= | CA1918874469 | CDH23 | c.6500T= (p.Ile2167=) c.6515T= (p.Ile2172=) c.6695T= (p.Ile2232=) c.6629T= (p.Ile2210=) c.6692T= (p.Ile2231=) c.6689T= (p.Ile2230=) c.6635T= (p.Ile2212=) c.6605T= (p.Ile2202=) c.6560T= (p.Ile2187=) c.6155T= (p.Ile2052=) c.5513T= (p.Ile1838=) c.3023T= (p.Ile1008=) n.6938T= | |
| 10 | g.71793429C>A | CA2697558463 | CDH23 | c.6501C>A (p.Ile2167=) c.6516C>A (p.Ile2172=) c.6696C>A (p.Ile2232=) c.6630C>A (p.Ile2210=) c.6693C>A (p.Ile2231=) c.6690C>A (p.Ile2230=) c.6636C>A (p.Ile2212=) c.6606C>A (p.Ile2202=) c.6561C>A (p.Ile2187=) c.6156C>A (p.Ile2052=) c.5514C>A (p.Ile1838=) c.3024C>A (p.Ile1008=) n.6939C>A | ClinVar |
| 10 | g.71793429C>G | CA377155200 | CDH23 | c.6501C>G (p.Ile2167Met) c.6516C>G (p.Ile2172Met) c.6696C>G (p.Ile2232Met) c.6630C>G (p.Ile2210Met) c.6693C>G (p.Ile2231Met) c.6690C>G (p.Ile2230Met) c.6636C>G (p.Ile2212Met) c.6606C>G (p.Ile2202Met) c.6561C>G (p.Ile2187Met) c.6156C>G (p.Ile2052Met) c.5514C>G (p.Ile1838Met) c.3024C>G (p.Ile1008Met) n.6939C>G | |
| 10 | g.71793430A= | CA1918874472 | CDH23 | c.6502A= (p.Asn2168=) c.6517A= (p.Asn2173=) c.6697A= (p.Asn2233=) c.6631A= (p.Asn2211=) c.6694A= (p.Asn2232=) c.6691A= (p.Asn2231=) c.6637A= (p.Asn2213=) c.6607A= (p.Asn2203=) c.6562A= (p.Asn2188=) c.6157A= (p.Asn2053=) c.5515A= (p.Asn1839=) c.3025A= (p.Asn1009=) n.6940A= | |
| 10 | g.71793430A>C | CA377155201 | CDH23 | c.6502A>C (p.Asn2168His) c.6517A>C (p.Asn2173His) c.6697A>C (p.Asn2233His) c.6631A>C (p.Asn2211His) c.6694A>C (p.Asn2232His) c.6691A>C (p.Asn2231His) c.6637A>C (p.Asn2213His) c.6607A>C (p.Asn2203His) c.6562A>C (p.Asn2188His) c.6157A>C (p.Asn2053His) c.5515A>C (p.Asn1839His) c.3025A>C (p.Asn1009His) n.6940A>C | dbSNP |
| 10 | g.71793430A>G | CA377155202 | CDH23 | c.6502A>G (p.Asn2168Asp) c.6517A>G (p.Asn2173Asp) c.6697A>G (p.Asn2233Asp) c.6631A>G (p.Asn2211Asp) c.6694A>G (p.Asn2232Asp) c.6691A>G (p.Asn2231Asp) c.6637A>G (p.Asn2213Asp) c.6607A>G (p.Asn2203Asp) c.6562A>G (p.Asn2188Asp) c.6157A>G (p.Asn2053Asp) c.5515A>G (p.Asn1839Asp) c.3025A>G (p.Asn1009Asp) n.6940A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.71793430A>T | CA377155203 | CDH23 | c.6502A>T (p.Asn2168Tyr) c.6517A>T (p.Asn2173Tyr) c.6697A>T (p.Asn2233Tyr) c.6631A>T (p.Asn2211Tyr) c.6694A>T (p.Asn2232Tyr) c.6691A>T (p.Asn2231Tyr) c.6637A>T (p.Asn2213Tyr) c.6607A>T (p.Asn2203Tyr) c.6562A>T (p.Asn2188Tyr) c.6157A>T (p.Asn2053Tyr) c.5515A>T (p.Asn1839Tyr) c.3025A>T (p.Asn1009Tyr) n.6940A>T | |
| 10 | g.71793431A= | CA1918874475 | CDH23 | c.6503A= (p.Asn2168=) c.6518A= (p.Asn2173=) c.6698A= (p.Asn2233=) c.6632A= (p.Asn2211=) c.6695A= (p.Asn2232=) c.6692A= (p.Asn2231=) c.6638A= (p.Asn2213=) c.6608A= (p.Asn2203=) c.6563A= (p.Asn2188=) c.6158A= (p.Asn2053=) c.5516A= (p.Asn1839=) c.3026A= (p.Asn1009=) n.6941A= | |
| 10 | g.71793431A>C | CA377155205 | CDH23 | c.6503A>C (p.Asn2168Thr) c.6518A>C (p.Asn2173Thr) c.6698A>C (p.Asn2233Thr) c.6632A>C (p.Asn2211Thr) c.6695A>C (p.Asn2232Thr) c.6692A>C (p.Asn2231Thr) c.6638A>C (p.Asn2213Thr) c.6608A>C (p.Asn2203Thr) c.6563A>C (p.Asn2188Thr) c.6158A>C (p.Asn2053Thr) c.5516A>C (p.Asn1839Thr) c.3026A>C (p.Asn1009Thr) n.6941A>C | |
| 10 | g.71793431A>G | CA209466204 | CDH23 | c.6503A>G (p.Asn2168Ser) c.6518A>G (p.Asn2173Ser) c.6698A>G (p.Asn2233Ser) c.6632A>G (p.Asn2211Ser) c.6695A>G (p.Asn2232Ser) c.6692A>G (p.Asn2231Ser) c.6638A>G (p.Asn2213Ser) c.6608A>G (p.Asn2203Ser) c.6563A>G (p.Asn2188Ser) c.6158A>G (p.Asn2053Ser) c.5516A>G (p.Asn1839Ser) c.3026A>G (p.Asn1009Ser) n.6941A>G | dbSNP gnomAD v4 |
| 10 | g.71793431A>T | CA377155204 | CDH23 | c.6503A>T (p.Asn2168Ile) c.6518A>T (p.Asn2173Ile) c.6698A>T (p.Asn2233Ile) c.6632A>T (p.Asn2211Ile) c.6695A>T (p.Asn2232Ile) c.6692A>T (p.Asn2231Ile) c.6638A>T (p.Asn2213Ile) c.6608A>T (p.Asn2203Ile) c.6563A>T (p.Asn2188Ile) c.6158A>T (p.Asn2053Ile) c.5516A>T (p.Asn1839Ile) c.3026A>T (p.Asn1009Ile) n.6941A>T | |
| 10 | g.71793432T>A | CA377155206 | CDH23 | c.6504T>A (p.Asn2168Lys) c.6519T>A (p.Asn2173Lys) c.6699T>A (p.Asn2233Lys) c.6633T>A (p.Asn2211Lys) c.6696T>A (p.Asn2232Lys) c.6693T>A (p.Asn2231Lys) c.6639T>A (p.Asn2213Lys) c.6609T>A (p.Asn2203Lys) c.6564T>A (p.Asn2188Lys) c.6159T>A (p.Asn2053Lys) c.5517T>A (p.Asn1839Lys) c.3027T>A (p.Asn1009Lys) n.6942T>A | |
| 10 | g.71793432T>C | CA5546095 | CDH23 | c.6504T>C (p.Asn2168=) c.6519T>C (p.Asn2173=) c.6699T>C (p.Asn2233=) c.6633T>C (p.Asn2211=) c.6696T>C (p.Asn2232=) c.6693T>C (p.Asn2231=) c.6639T>C (p.Asn2213=) c.6609T>C (p.Asn2203=) c.6564T>C (p.Asn2188=) c.6159T>C (p.Asn2053=) c.5517T>C (p.Asn1839=) c.3027T>C (p.Asn1009=) n.6942T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.71793432T>G | CA377155207 | CDH23 | c.6504T>G (p.Asn2168Lys) c.6519T>G (p.Asn2173Lys) c.6699T>G (p.Asn2233Lys) c.6633T>G (p.Asn2211Lys) c.6696T>G (p.Asn2232Lys) c.6693T>G (p.Asn2231Lys) c.6639T>G (p.Asn2213Lys) c.6609T>G (p.Asn2203Lys) c.6564T>G (p.Asn2188Lys) c.6159T>G (p.Asn2053Lys) c.5517T>G (p.Asn1839Lys) c.3027T>G (p.Asn1009Lys) n.6942T>G | |
| 10 | g.71793432T= | CA1918874479 | CDH23 | c.6504T= (p.Asn2168=) c.6519T= (p.Asn2173=) c.6699T= (p.Asn2233=) c.6633T= (p.Asn2211=) c.6696T= (p.Asn2232=) c.6693T= (p.Asn2231=) c.6639T= (p.Asn2213=) c.6609T= (p.Asn2203=) c.6564T= (p.Asn2188=) c.6159T= (p.Asn2053=) c.5517T= (p.Asn1839=) c.3027T= (p.Asn1009=) n.6942T= | |
| 10 | g.71793433G>A | CA377155208 | CDH23 | c.6505G>A (p.Asp2169Asn) c.6520G>A (p.Asp2174Asn) c.6700G>A (p.Asp2234Asn) c.6634G>A (p.Asp2212Asn) c.6697G>A (p.Asp2233Asn) c.6694G>A (p.Asp2232Asn) c.6640G>A (p.Asp2214Asn) c.6610G>A (p.Asp2204Asn) c.6565G>A (p.Asp2189Asn) c.6160G>A (p.Asp2054Asn) c.5518G>A (p.Asp1840Asn) c.3028G>A (p.Asp1010Asn) n.6943G>A | gnomAD v4 |
| 10 | g.71793433G>C | CA377155209 | CDH23 | c.6505G>C (p.Asp2169His) c.6520G>C (p.Asp2174His) c.6700G>C (p.Asp2234His) c.6634G>C (p.Asp2212His) c.6697G>C (p.Asp2233His) c.6694G>C (p.Asp2232His) c.6640G>C (p.Asp2214His) c.6610G>C (p.Asp2204His) c.6565G>C (p.Asp2189His) c.6160G>C (p.Asp2054His) c.5518G>C (p.Asp1840His) c.3028G>C (p.Asp1010His) n.6943G>C | |
| 10 | g.71793433G>T | CA377155210 | CDH23 | c.6505G>T (p.Asp2169Tyr) c.6520G>T (p.Asp2174Tyr) c.6700G>T (p.Asp2234Tyr) c.6634G>T (p.Asp2212Tyr) c.6697G>T (p.Asp2233Tyr) c.6694G>T (p.Asp2232Tyr) c.6640G>T (p.Asp2214Tyr) c.6610G>T (p.Asp2204Tyr) c.6565G>T (p.Asp2189Tyr) c.6160G>T (p.Asp2054Tyr) c.5518G>T (p.Asp1840Tyr) c.3028G>T (p.Asp1010Tyr) n.6943G>T | |
| 10 | g.71793434A= | CA1918874481 | CDH23 | c.6506A= (p.Asp2169=) c.6521A= (p.Asp2174=) c.6701A= (p.Asp2234=) c.6635A= (p.Asp2212=) c.6698A= (p.Asp2233=) c.6695A= (p.Asp2232=) c.6641A= (p.Asp2214=) c.6611A= (p.Asp2204=) c.6566A= (p.Asp2189=) c.6161A= (p.Asp2054=) c.5519A= (p.Asp1840=) c.3029A= (p.Asp1010=) n.6944A= |