Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.71793420C>ACA2580946650CDH23c.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
10g.71793420C=CA1918874458CDH23c.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=
10g.71793420C>GCA377155178CDH23c.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
10g.71793420C>TCA137537CDH23c.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
10g.71793421G>ACA5546094CDH23c.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
10g.71793421G>CCA377155179CDH23c.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
10g.71793421G=CA1918874461CDH23c.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=
10g.71793421G>TCA377155180CDH23c.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
10g.71793422A>CCA377155181CDH23c.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
10g.71793422A>GCA377155182CDH23c.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
10g.71793422A>TCA377155183CDH23c.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
10g.71793423T>ACA377155184CDH23c.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
10g.71793423T>CCA2499220352CDH23c.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
10g.71793423T>GCA377155185CDH23c.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
10g.71793424G>ACA377155187CDH23c.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
10g.71793424G>CCA377155188CDH23c.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
10g.71793424G>TCA377155186CDH23c.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
10g.71793425A>CCA377155189CDH23c.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
10g.71793425A>GCA377155191CDH23c.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
10g.71793425A>TCA377155190CDH23c.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
10g.71793426C>ACA377155192CDH23c.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
10g.71793426C=CA1918874464CDH23c.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=
10g.71793426C>GCA377155193CDH23c.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
10g.71793426C>TCA1918874465CDH23c.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
10g.71793427A=CA1918874467CDH23c.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=
10g.71793427A>CCA377155194CDH23c.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
10g.71793427A>GCA377155195CDH23c.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
10g.71793427A>TCA377155196CDH23c.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
10g.71793428T>ACA377155197CDH23c.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
10g.71793428T>CCA377155198CDH23c.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
10g.71793428T>GCA377155199CDH23c.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
10g.71793428T=CA1918874469CDH23c.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=
10g.71793429C>ACA2697558463CDH23c.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
10g.71793429C>GCA377155200CDH23c.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
10g.71793430A=CA1918874472CDH23c.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=
10g.71793430A>CCA377155201CDH23c.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
10g.71793430A>GCA377155202CDH23c.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
10g.71793430A>TCA377155203CDH23c.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
10g.71793431A=CA1918874475CDH23c.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=
10g.71793431A>CCA377155205CDH23c.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
10g.71793431A>GCA209466204CDH23c.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
10g.71793431A>TCA377155204CDH23c.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
10g.71793432T>ACA377155206CDH23c.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
10g.71793432T>CCA5546095CDH23c.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
10g.71793432T>GCA377155207CDH23c.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
10g.71793432T=CA1918874479CDH23c.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=
10g.71793433G>ACA377155208CDH23c.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
10g.71793433G>CCA377155209CDH23c.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
10g.71793433G>TCA377155210CDH23c.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
10g.71793434A=CA1918874481CDH23c.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=
10g.71793434A>CCA209466207CDH23c.6506A>C (p.Asp2169Ala)
c.6521A>C (p.Asp2174Ala)
c.6701A>C (p.Asp2234Ala)
c.6635A>C (p.Asp2212Ala)
c.6698A>C (p.Asp2233Ala)
c.6695A>C (p.Asp2232Ala)
c.6641A>C (p.Asp2214Ala)
c.6611A>C (p.Asp2204Ala)
c.6566A>C (p.Asp2189Ala)
c.6161A>C (p.Asp2054Ala)
c.5519A>C (p.Asp1840Ala)
c.3029A>C (p.Asp1010Ala)
n.6944A>C
 dbSNP gnomAD v3 gnomAD v4
10g.71793434A>GCA377155211CDH23c.6506A>G (p.Asp2169Gly)
c.6521A>G (p.Asp2174Gly)
c.6701A>G (p.Asp2234Gly)
c.6635A>G (p.Asp2212Gly)
c.6698A>G (p.Asp2233Gly)
c.6695A>G (p.Asp2232Gly)
c.6641A>G (p.Asp2214Gly)
c.6611A>G (p.Asp2204Gly)
c.6566A>G (p.Asp2189Gly)
c.6161A>G (p.Asp2054Gly)
c.5519A>G (p.Asp1840Gly)
c.3029A>G (p.Asp1010Gly)
n.6944A>G
10g.71793434A>TCA377155212CDH23c.6506A>T (p.Asp2169Val)
c.6521A>T (p.Asp2174Val)
c.6701A>T (p.Asp2234Val)
c.6635A>T (p.Asp2212Val)
c.6698A>T (p.Asp2233Val)
c.6695A>T (p.Asp2232Val)
c.6641A>T (p.Asp2214Val)
c.6611A>T (p.Asp2204Val)
c.6566A>T (p.Asp2189Val)
c.6161A>T (p.Asp2054Val)
c.5519A>T (p.Asp1840Val)
c.3029A>T (p.Asp1010Val)
n.6944A>T
 ClinVar
10g.71793435C>ACA377155213CDH23c.6507C>A (p.Asp2169Glu)
c.6522C>A (p.Asp2174Glu)
c.6702C>A (p.Asp2234Glu)
c.6636C>A (p.Asp2212Glu)
c.6699C>A (p.Asp2233Glu)
c.6696C>A (p.Asp2232Glu)
c.6642C>A (p.Asp2214Glu)
c.6612C>A (p.Asp2204Glu)
c.6567C>A (p.Asp2189Glu)
c.6162C>A (p.Asp2054Glu)
c.5520C>A (p.Asp1840Glu)
c.3030C>A (p.Asp1010Glu)
n.6945C>A
10g.71793435C>GCA377155214CDH23c.6507C>G (p.Asp2169Glu)
c.6522C>G (p.Asp2174Glu)
c.6702C>G (p.Asp2234Glu)
c.6636C>G (p.Asp2212Glu)
c.6699C>G (p.Asp2233Glu)
c.6696C>G (p.Asp2232Glu)
c.6642C>G (p.Asp2214Glu)
c.6612C>G (p.Asp2204Glu)
c.6567C>G (p.Asp2189Glu)
c.6162C>G (p.Asp2054Glu)
c.5520C>G (p.Asp1840Glu)
c.3030C>G (p.Asp1010Glu)
n.6945C>G
10g.71793435C>TCA2722286326CDH23c.6507C>T (p.Asp2169=)
c.6522C>T (p.Asp2174=)
c.6702C>T (p.Asp2234=)
c.6636C>T (p.Asp2212=)
c.6699C>T (p.Asp2233=)
c.6696C>T (p.Asp2232=)
c.6642C>T (p.Asp2214=)
c.6612C>T (p.Asp2204=)
c.6567C>T (p.Asp2189=)
c.6162C>T (p.Asp2054=)
c.5520C>T (p.Asp1840=)
c.3030C>T (p.Asp1010=)
n.6945C>T
 dbSNP
10g.71793436T>ACA377155217CDH23c.6508T>A (p.Ser2170Thr)
c.6523T>A (p.Ser2175Thr)
c.6703T>A (p.Ser2235Thr)
c.6637T>A (p.Ser2213Thr)
c.6700T>A (p.Ser2234Thr)
c.6697T>A (p.Ser2233Thr)
c.6643T>A (p.Ser2215Thr)
c.6613T>A (p.Ser2205Thr)
c.6568T>A (p.Ser2190Thr)
c.6163T>A (p.Ser2055Thr)
c.5521T>A (p.Ser1841Thr)
c.3031T>A (p.Ser1011Thr)
n.6946T>A
 gnomAD v4
10g.71793436T>CCA377155216CDH23c.6508T>C (p.Ser2170Pro)
c.6523T>C (p.Ser2175Pro)
c.6703T>C (p.Ser2235Pro)
c.6637T>C (p.Ser2213Pro)
c.6700T>C (p.Ser2234Pro)
c.6697T>C (p.Ser2233Pro)
c.6643T>C (p.Ser2215Pro)
c.6613T>C (p.Ser2205Pro)
c.6568T>C (p.Ser2190Pro)
c.6163T>C (p.Ser2055Pro)
c.5521T>C (p.Ser1841Pro)
c.3031T>C (p.Ser1011Pro)
n.6946T>C
 ClinVar dbSNP
10g.71793436T>GCA377155215CDH23c.6508T>G (p.Ser2170Ala)
c.6523T>G (p.Ser2175Ala)
c.6703T>G (p.Ser2235Ala)
c.6637T>G (p.Ser2213Ala)
c.6700T>G (p.Ser2234Ala)
c.6697T>G (p.Ser2233Ala)
c.6643T>G (p.Ser2215Ala)
c.6613T>G (p.Ser2205Ala)
c.6568T>G (p.Ser2190Ala)
c.6163T>G (p.Ser2055Ala)
c.5521T>G (p.Ser1841Ala)
c.3031T>G (p.Ser1011Ala)
n.6946T>G
10g.71793437C>ACA377155218CDH23c.6509C>A (p.Ser2170Tyr)
c.6524C>A (p.Ser2175Tyr)
c.6704C>A (p.Ser2235Tyr)
c.6638C>A (p.Ser2213Tyr)
c.6701C>A (p.Ser2234Tyr)
c.6698C>A (p.Ser2233Tyr)
c.6644C>A (p.Ser2215Tyr)
c.6614C>A (p.Ser2205Tyr)
c.6569C>A (p.Ser2190Tyr)
c.6164C>A (p.Ser2055Tyr)
c.5522C>A (p.Ser1841Tyr)
c.3032C>A (p.Ser1011Tyr)
n.6947C>A
10g.71793437C>GCA377155219CDH23c.6509C>G (p.Ser2170Cys)
c.6524C>G (p.Ser2175Cys)
c.6704C>G (p.Ser2235Cys)
c.6638C>G (p.Ser2213Cys)
c.6701C>G (p.Ser2234Cys)
c.6698C>G (p.Ser2233Cys)
c.6644C>G (p.Ser2215Cys)
c.6614C>G (p.Ser2205Cys)
c.6569C>G (p.Ser2190Cys)
c.6164C>G (p.Ser2055Cys)
c.5522C>G (p.Ser1841Cys)
c.3032C>G (p.Ser1011Cys)
n.6947C>G
10g.71793437C>TCA377155220CDH23c.6509C>T (p.Ser2170Phe)
c.6524C>T (p.Ser2175Phe)
c.6704C>T (p.Ser2235Phe)
c.6638C>T (p.Ser2213Phe)
c.6701C>T (p.Ser2234Phe)
c.6698C>T (p.Ser2233Phe)
c.6644C>T (p.Ser2215Phe)
c.6614C>T (p.Ser2205Phe)
c.6569C>T (p.Ser2190Phe)
c.6164C>T (p.Ser2055Phe)
c.5522C>T (p.Ser1841Phe)
c.3032C>T (p.Ser1011Phe)
n.6947C>T
 gnomAD v4
10g.71793439delCA2695212173CDH23c.6511del (p.Arg2171AlafsTer11)
c.6526del (p.Arg2176AlafsTer11)
c.6706del (p.Arg2236AlafsTer11)
c.6640del (p.Arg2214AlafsTer11)
c.6703del (p.Arg2235AlafsTer11)
c.6700del (p.Arg2234AlafsTer11)
c.6646del (p.Arg2216AlafsTer11)
c.6616del (p.Arg2206AlafsTer11)
c.6571del (p.Arg2191AlafsTer11)
c.6166del (p.Arg2056AlafsTer11)
c.5524del (p.Arg1842AlafsTer11)
c.3034del (p.Arg1012AlafsTer11)
n.6949del
10g.71793439C>ACA377155221CDH23c.6511C>A (p.Arg2171Ser)
c.6526C>A (p.Arg2176Ser)
c.6706C>A (p.Arg2236Ser)
c.6640C>A (p.Arg2214Ser)
c.6703C>A (p.Arg2235Ser)
c.6700C>A (p.Arg2234Ser)
c.6646C>A (p.Arg2216Ser)
c.6616C>A (p.Arg2206Ser)
c.6571C>A (p.Arg2191Ser)
c.6166C>A (p.Arg2056Ser)
c.5524C>A (p.Arg1842Ser)
c.3034C>A (p.Arg1012Ser)
n.6949C>A
 gnomAD v4
10g.71793439C=CA1918874484CDH23c.6511C= (p.Arg2171=)
c.6526C= (p.Arg2176=)
c.6706C= (p.Arg2236=)
c.6640C= (p.Arg2214=)
c.6703C= (p.Arg2235=)
c.6700C= (p.Arg2234=)
c.6646C= (p.Arg2216=)
c.6616C= (p.Arg2206=)
c.6571C= (p.Arg2191=)
c.6166C= (p.Arg2056=)
c.5524C= (p.Arg1842=)
c.3034C= (p.Arg1012=)
n.6949C=
10g.71793439C>GCA377155222CDH23c.6511C>G (p.Arg2171Gly)
c.6526C>G (p.Arg2176Gly)
c.6706C>G (p.Arg2236Gly)
c.6640C>G (p.Arg2214Gly)
c.6703C>G (p.Arg2235Gly)
c.6700C>G (p.Arg2234Gly)
c.6646C>G (p.Arg2216Gly)
c.6616C>G (p.Arg2206Gly)
c.6571C>G (p.Arg2191Gly)
c.6166C>G (p.Arg2056Gly)
c.5524C>G (p.Arg1842Gly)
c.3034C>G (p.Arg1012Gly)
n.6949C>G
10g.71793439C>TCA5546096CDH23c.6511C>T (p.Arg2171Cys)
c.6526C>T (p.Arg2176Cys)
c.6706C>T (p.Arg2236Cys)
c.6640C>T (p.Arg2214Cys)
c.6703C>T (p.Arg2235Cys)
c.6700C>T (p.Arg2234Cys)
c.6646C>T (p.Arg2216Cys)
c.6616C>T (p.Arg2206Cys)
c.6571C>T (p.Arg2191Cys)
c.6166C>T (p.Arg2056Cys)
c.5524C>T (p.Arg1842Cys)
c.3034C>T (p.Arg1012Cys)
n.6949C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.71793439_71793440insAGACA2788485493CDH23c.6511_6512insAGA (p.Arg2171delinsGlnSer)
c.6526_6527insAGA (p.Arg2176delinsGlnSer)
c.6706_6707insAGA (p.Arg2236delinsGlnSer)
c.6640_6641insAGA (p.Arg2214delinsGlnSer)
c.6703_6704insAGA (p.Arg2235delinsGlnSer)
c.6700_6701insAGA (p.Arg2234delinsGlnSer)
c.6646_6647insAGA (p.Arg2216delinsGlnSer)
c.6616_6617insAGA (p.Arg2206delinsGlnSer)
c.6571_6572insAGA (p.Arg2191delinsGlnSer)
c.6166_6167insAGA (p.Arg2056delinsGlnSer)
c.5524_5525insAGA (p.Arg1842delinsGlnSer)
c.3034_3035insAGA (p.Arg1012delinsGlnSer)
n.6949_6950insAGA
10g.71793440G>ACA5546097CDH23c.6512G>A (p.Arg2171His)
c.6527G>A (p.Arg2176His)
c.6707G>A (p.Arg2236His)
c.6641G>A (p.Arg2214His)
c.6704G>A (p.Arg2235His)
c.6701G>A (p.Arg2234His)
c.6647G>A (p.Arg2216His)
c.6617G>A (p.Arg2206His)
c.6572G>A (p.Arg2191His)
c.6167G>A (p.Arg2056His)
c.5525G>A (p.Arg1842His)
c.3035G>A (p.Arg1012His)
n.6950G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.71793440G>CCA377155223CDH23c.6512G>C (p.Arg2171Pro)
c.6527G>C (p.Arg2176Pro)
c.6707G>C (p.Arg2236Pro)
c.6641G>C (p.Arg2214Pro)
c.6704G>C (p.Arg2235Pro)
c.6701G>C (p.Arg2234Pro)
c.6647G>C (p.Arg2216Pro)
c.6617G>C (p.Arg2206Pro)
c.6572G>C (p.Arg2191Pro)
c.6167G>C (p.Arg2056Pro)
c.5525G>C (p.Arg1842Pro)
c.3035G>C (p.Arg1012Pro)
n.6950G>C
 dbSNP gnomAD v2 gnomAD v4
10g.71793440G=CA1918874490CDH23c.6512G= (p.Arg2171=)
c.6527G= (p.Arg2176=)
c.6707G= (p.Arg2236=)
c.6641G= (p.Arg2214=)
c.6704G= (p.Arg2235=)
c.6701G= (p.Arg2234=)
c.6647G= (p.Arg2216=)
c.6617G= (p.Arg2206=)
c.6572G= (p.Arg2191=)
c.6167G= (p.Arg2056=)
c.5525G= (p.Arg1842=)
c.3035G= (p.Arg1012=)
n.6950G=
10g.71793440G>TCA5546098CDH23c.6512G>T (p.Arg2171Leu)
c.6527G>T (p.Arg2176Leu)
c.6707G>T (p.Arg2236Leu)
c.6641G>T (p.Arg2214Leu)
c.6704G>T (p.Arg2235Leu)
c.6701G>T (p.Arg2234Leu)
c.6647G>T (p.Arg2216Leu)
c.6617G>T (p.Arg2206Leu)
c.6572G>T (p.Arg2191Leu)
c.6167G>T (p.Arg2056Leu)
c.5525G>T (p.Arg1842Leu)
c.3035G>T (p.Arg1012Leu)
n.6950G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71793440_71793441delinsGCCA1918874488CDH23c.6512_6513delinsGC (p.Arg2171=)
c.6527_6528delinsGC (p.Arg2176=)
c.6707_6708delinsGC (p.Arg2236=)
c.6641_6642delinsGC (p.Arg2214=)
c.6704_6705delinsGC (p.Arg2235=)
c.6701_6702delinsGC (p.Arg2234=)
c.6647_6648delinsGC (p.Arg2216=)
c.6617_6618delinsGC (p.Arg2206=)
c.6572_6573delinsGC (p.Arg2191=)
c.6167_6168delinsGC (p.Arg2056=)
c.5525_5526delinsGC (p.Arg1842=)
c.3035_3036delinsGC (p.Arg1012=)
n.6950_6951delinsGC
10g.71793441C=CA1918874493CDH23c.6513C= (p.Arg2171=)
c.6528C= (p.Arg2176=)
c.6708C= (p.Arg2236=)
c.6642C= (p.Arg2214=)
c.6705C= (p.Arg2235=)
c.6702C= (p.Arg2234=)
c.6648C= (p.Arg2216=)
c.6618C= (p.Arg2206=)
c.6573C= (p.Arg2191=)
c.6168C= (p.Arg2056=)
c.5526C= (p.Arg1842=)
c.3036C= (p.Arg1012=)
n.6951C=
10g.71793441C>TCA5546099CDH23c.6513C>T (p.Arg2171=)
c.6528C>T (p.Arg2176=)
c.6708C>T (p.Arg2236=)
c.6642C>T (p.Arg2214=)
c.6705C>T (p.Arg2235=)
c.6702C>T (p.Arg2234=)
c.6648C>T (p.Arg2216=)
c.6618C>T (p.Arg2206=)
c.6573C>T (p.Arg2191=)
c.6168C>T (p.Arg2056=)
c.5526C>T (p.Arg1842=)
c.3036C>T (p.Arg1012=)
n.6951C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71793444delCA668109156CDH23c.6516del (p.Glu2173SerfsTer9)
c.6531del (p.Glu2178SerfsTer9)
c.6711del (p.Glu2238SerfsTer9)
c.6645del (p.Glu2216SerfsTer9)
c.6708del (p.Glu2237SerfsTer9)
c.6705del (p.Glu2236SerfsTer9)
c.6651del (p.Glu2218SerfsTer9)
c.6621del (p.Glu2208SerfsTer9)
c.6576del (p.Glu2193SerfsTer9)
c.6171del (p.Glu2058SerfsTer9)
c.5529del (p.Glu1844SerfsTer9)
c.3039del (p.Glu1014SerfsTer9)
n.6954del
 ClinVar dbSNP
10g.71793442C>ACA377155224CDH23c.6514C>A (p.Pro2172Thr)
c.6529C>A (p.Pro2177Thr)
c.6709C>A (p.Pro2237Thr)
c.6643C>A (p.Pro2215Thr)
c.6706C>A (p.Pro2236Thr)
c.6703C>A (p.Pro2235Thr)
c.6649C>A (p.Pro2217Thr)
c.6619C>A (p.Pro2207Thr)
c.6574C>A (p.Pro2192Thr)
c.6169C>A (p.Pro2057Thr)
c.5527C>A (p.Pro1843Thr)
c.3037C>A (p.Pro1013Thr)
n.6952C>A
10g.71793442C=CA1918874497CDH23c.6514C= (p.Pro2172=)
c.6529C= (p.Pro2177=)
c.6709C= (p.Pro2237=)
c.6643C= (p.Pro2215=)
c.6706C= (p.Pro2236=)
c.6703C= (p.Pro2235=)
c.6649C= (p.Pro2217=)
c.6619C= (p.Pro2207=)
c.6574C= (p.Pro2192=)
c.6169C= (p.Pro2057=)
c.5527C= (p.Pro1843=)
c.3037C= (p.Pro1013=)
n.6952C=
10g.71793442C>GCA377155225CDH23c.6514C>G (p.Pro2172Ala)
c.6529C>G (p.Pro2177Ala)
c.6709C>G (p.Pro2237Ala)
c.6643C>G (p.Pro2215Ala)
c.6706C>G (p.Pro2236Ala)
c.6703C>G (p.Pro2235Ala)
c.6649C>G (p.Pro2217Ala)
c.6619C>G (p.Pro2207Ala)
c.6574C>G (p.Pro2192Ala)
c.6169C>G (p.Pro2057Ala)
c.5527C>G (p.Pro1843Ala)
c.3037C>G (p.Pro1013Ala)
n.6952C>G
 dbSNP
10g.71793442C>TCA377155226CDH23c.6514C>T (p.Pro2172Ser)
c.6529C>T (p.Pro2177Ser)
c.6709C>T (p.Pro2237Ser)
c.6643C>T (p.Pro2215Ser)
c.6706C>T (p.Pro2236Ser)
c.6703C>T (p.Pro2235Ser)
c.6649C>T (p.Pro2217Ser)
c.6619C>T (p.Pro2207Ser)
c.6574C>T (p.Pro2192Ser)
c.6169C>T (p.Pro2057Ser)
c.5527C>T (p.Pro1843Ser)
c.3037C>T (p.Pro1013Ser)
n.6952C>T
 dbSNP gnomAD v2 gnomAD v4
10g.71793443C>ACA5546100CDH23c.6515C>A (p.Pro2172His)
c.6530C>A (p.Pro2177His)
c.6710C>A (p.Pro2237His)
c.6644C>A (p.Pro2215His)
c.6707C>A (p.Pro2236His)
c.6704C>A (p.Pro2235His)
c.6650C>A (p.Pro2217His)
c.6620C>A (p.Pro2207His)
c.6575C>A (p.Pro2192His)
c.6170C>A (p.Pro2057His)
c.5528C>A (p.Pro1843His)
c.3038C>A (p.Pro1013His)
n.6953C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71793443C=CA1918874499CDH23c.6515C= (p.Pro2172=)
c.6530C= (p.Pro2177=)
c.6710C= (p.Pro2237=)
c.6644C= (p.Pro2215=)
c.6707C= (p.Pro2236=)
c.6704C= (p.Pro2235=)
c.6650C= (p.Pro2217=)
c.6620C= (p.Pro2207=)
c.6575C= (p.Pro2192=)
c.6170C= (p.Pro2057=)
c.5528C= (p.Pro1843=)
c.3038C= (p.Pro1013=)
n.6953C=
10g.71793443C>GCA377155227CDH23c.6515C>G (p.Pro2172Arg)
c.6530C>G (p.Pro2177Arg)
c.6710C>G (p.Pro2237Arg)
c.6644C>G (p.Pro2215Arg)
c.6707C>G (p.Pro2236Arg)
c.6704C>G (p.Pro2235Arg)
c.6650C>G (p.Pro2217Arg)
c.6620C>G (p.Pro2207Arg)
c.6575C>G (p.Pro2192Arg)
c.6170C>G (p.Pro2057Arg)
c.5528C>G (p.Pro1843Arg)
c.3038C>G (p.Pro1013Arg)
n.6953C>G
10g.71793443C>TCA377155228CDH23c.6515C>T (p.Pro2172Leu)
c.6530C>T (p.Pro2177Leu)
c.6710C>T (p.Pro2237Leu)
c.6644C>T (p.Pro2215Leu)
c.6707C>T (p.Pro2236Leu)
c.6704C>T (p.Pro2235Leu)
c.6650C>T (p.Pro2217Leu)
c.6620C>T (p.Pro2207Leu)
c.6575C>T (p.Pro2192Leu)
c.6170C>T (p.Pro2057Leu)
c.5528C>T (p.Pro1843Leu)
c.3038C>T (p.Pro1013Leu)
n.6953C>T
10g.71793444C>ACA1918874503CDH23c.6516C>A (p.Pro2172=)
c.6531C>A (p.Pro2177=)
c.6711C>A (p.Pro2237=)
c.6645C>A (p.Pro2215=)
c.6708C>A (p.Pro2236=)
c.6705C>A (p.Pro2235=)
c.6651C>A (p.Pro2217=)
c.6621C>A (p.Pro2207=)
c.6576C>A (p.Pro2192=)
c.6171C>A (p.Pro2057=)
c.5529C>A (p.Pro1843=)
c.3039C>A (p.Pro1013=)
n.6954C>A
 ClinVar dbSNP
10g.71793444C=CA1918874501CDH23c.6516C= (p.Pro2172=)
c.6531C= (p.Pro2177=)
c.6711C= (p.Pro2237=)
c.6645C= (p.Pro2215=)
c.6708C= (p.Pro2236=)
c.6705C= (p.Pro2235=)
c.6651C= (p.Pro2217=)
c.6621C= (p.Pro2207=)
c.6576C= (p.Pro2192=)
c.6171C= (p.Pro2057=)
c.5529C= (p.Pro1843=)
c.3039C= (p.Pro1013=)
n.6954C=
10g.71793444C>GCA209466227CDH23c.6516C>G (p.Pro2172=)
c.6531C>G (p.Pro2177=)
c.6711C>G (p.Pro2237=)
c.6645C>G (p.Pro2215=)
c.6708C>G (p.Pro2236=)
c.6705C>G (p.Pro2235=)
c.6651C>G (p.Pro2217=)
c.6621C>G (p.Pro2207=)
c.6576C>G (p.Pro2192=)
c.6171C>G (p.Pro2057=)
c.5529C>G (p.Pro1843=)
c.3039C>G (p.Pro1013=)
n.6954C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.71793444C>TCA209466233CDH23c.6516C>T (p.Pro2172=)
c.6531C>T (p.Pro2177=)
c.6711C>T (p.Pro2237=)
c.6645C>T (p.Pro2215=)
c.6708C>T (p.Pro2236=)
c.6705C>T (p.Pro2235=)
c.6651C>T (p.Pro2217=)
c.6621C>T (p.Pro2207=)
c.6576C>T (p.Pro2192=)
c.6171C>T (p.Pro2057=)
c.5529C>T (p.Pro1843=)
c.3039C>T (p.Pro1013=)
n.6954C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71793445G>ACA5546101CDH23c.6517G>A (p.Glu2173Lys)
c.6532G>A (p.Glu2178Lys)
c.6712G>A (p.Glu2238Lys)
c.6646G>A (p.Glu2216Lys)
c.6709G>A (p.Glu2237Lys)
c.6706G>A (p.Glu2236Lys)
c.6652G>A (p.Glu2218Lys)
c.6622G>A (p.Glu2208Lys)
c.6577G>A (p.Glu2193Lys)
c.6172G>A (p.Glu2058Lys)
c.5530G>A (p.Glu1844Lys)
c.3040G>A (p.Glu1014Lys)
n.6955G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.71793445G>CCA377155229CDH23c.6517G>C (p.Glu2173Gln)
c.6532G>C (p.Glu2178Gln)
c.6712G>C (p.Glu2238Gln)
c.6646G>C (p.Glu2216Gln)
c.6709G>C (p.Glu2237Gln)
c.6706G>C (p.Glu2236Gln)
c.6652G>C (p.Glu2218Gln)
c.6622G>C (p.Glu2208Gln)
c.6577G>C (p.Glu2193Gln)
c.6172G>C (p.Glu2058Gln)
c.5530G>C (p.Glu1844Gln)
c.3040G>C (p.Glu1014Gln)
n.6955G>C
 dbSNP
10g.71793445G=CA1918874505CDH23c.6517G= (p.Glu2173=)
c.6532G= (p.Glu2178=)
c.6712G= (p.Glu2238=)
c.6646G= (p.Glu2216=)
c.6709G= (p.Glu2237=)
c.6706G= (p.Glu2236=)
c.6652G= (p.Glu2218=)
c.6622G= (p.Glu2208=)
c.6577G= (p.Glu2193=)
c.6172G= (p.Glu2058=)
c.5530G= (p.Glu1844=)
c.3040G= (p.Glu1014=)
n.6955G=
10g.71793445G>TCA5546102CDH23c.6517G>T (p.Glu2173Ter)
c.6532G>T (p.Glu2178Ter)
c.6712G>T (p.Glu2238Ter)
c.6646G>T (p.Glu2216Ter)
c.6709G>T (p.Glu2237Ter)
c.6706G>T (p.Glu2236Ter)
c.6652G>T (p.Glu2218Ter)
c.6622G>T (p.Glu2208Ter)
c.6577G>T (p.Glu2193Ter)
c.6172G>T (p.Glu2058Ter)
c.5530G>T (p.Glu1844Ter)
c.3040G>T (p.Glu1014Ter)
n.6955G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71793446A=CA1918874508CDH23c.6518A= (p.Glu2173=)
c.6533A= (p.Glu2178=)
c.6713A= (p.Glu2238=)
c.6647A= (p.Glu2216=)
c.6710A= (p.Glu2237=)
c.6707A= (p.Glu2236=)
c.6653A= (p.Glu2218=)
c.6623A= (p.Glu2208=)
c.6578A= (p.Glu2193=)
c.6173A= (p.Glu2058=)
c.5531A= (p.Glu1844=)
c.3041A= (p.Glu1014=)
n.6956A=
10g.71793446A>CCA377155230CDH23c.6518A>C (p.Glu2173Ala)
c.6533A>C (p.Glu2178Ala)
c.6713A>C (p.Glu2238Ala)
c.6647A>C (p.Glu2216Ala)
c.6710A>C (p.Glu2237Ala)
c.6707A>C (p.Glu2236Ala)
c.6653A>C (p.Glu2218Ala)
c.6623A>C (p.Glu2208Ala)
c.6578A>C (p.Glu2193Ala)
c.6173A>C (p.Glu2058Ala)
c.5531A>C (p.Glu1844Ala)
c.3041A>C (p.Glu1014Ala)
n.6956A>C
10g.71793446A>GCA377155231CDH23c.6518A>G (p.Glu2173Gly)
c.6533A>G (p.Glu2178Gly)
c.6713A>G (p.Glu2238Gly)
c.6647A>G (p.Glu2216Gly)
c.6710A>G (p.Glu2237Gly)
c.6707A>G (p.Glu2236Gly)
c.6653A>G (p.Glu2218Gly)
c.6623A>G (p.Glu2208Gly)
c.6578A>G (p.Glu2193Gly)
c.6173A>G (p.Glu2058Gly)
c.5531A>G (p.Glu1844Gly)
c.3041A>G (p.Glu1014Gly)
n.6956A>G
10g.71793446A>TCA377155232CDH23c.6518A>T (p.Glu2173Val)
c.6533A>T (p.Glu2178Val)
c.6713A>T (p.Glu2238Val)
c.6647A>T (p.Glu2216Val)
c.6710A>T (p.Glu2237Val)
c.6707A>T (p.Glu2236Val)
c.6653A>T (p.Glu2218Val)
c.6623A>T (p.Glu2208Val)
c.6578A>T (p.Glu2193Val)
c.6173A>T (p.Glu2058Val)
c.5531A>T (p.Glu1844Val)
c.3041A>T (p.Glu1014Val)
n.6956A>T
10g.71793447G>ACA5546103CDH23c.6519G>A (p.Glu2173=)
c.6534G>A (p.Glu2178=)
c.6714G>A (p.Glu2238=)
c.6648G>A (p.Glu2216=)
c.6711G>A (p.Glu2237=)
c.6708G>A (p.Glu2236=)
c.6654G>A (p.Glu2218=)
c.6624G>A (p.Glu2208=)
c.6579G>A (p.Glu2193=)
c.6174G>A (p.Glu2058=)
c.5532G>A (p.Glu1844=)
c.3042G>A (p.Glu1014=)
n.6957G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71793447G>CCA377155233CDH23c.6519G>C (p.Glu2173Asp)
c.6534G>C (p.Glu2178Asp)
c.6714G>C (p.Glu2238Asp)
c.6648G>C (p.Glu2216Asp)
c.6711G>C (p.Glu2237Asp)
c.6708G>C (p.Glu2236Asp)
c.6654G>C (p.Glu2218Asp)
c.6624G>C (p.Glu2208Asp)
c.6579G>C (p.Glu2193Asp)
c.6174G>C (p.Glu2058Asp)
c.5532G>C (p.Glu1844Asp)
c.3042G>C (p.Glu1014Asp)
n.6957G>C
10g.71793447G=CA1918874511CDH23c.6519G= (p.Glu2173=)
c.6534G= (p.Glu2178=)
c.6714G= (p.Glu2238=)
c.6648G= (p.Glu2216=)
c.6711G= (p.Glu2237=)
c.6708G= (p.Glu2236=)
c.6654G= (p.Glu2218=)
c.6624G= (p.Glu2208=)
c.6579G= (p.Glu2193=)
c.6174G= (p.Glu2058=)
c.5532G= (p.Glu1844=)
c.3042G= (p.Glu1014=)
n.6957G=
10g.71793447G>TCA377155234CDH23c.6519G>T (p.Glu2173Asp)
c.6534G>T (p.Glu2178Asp)
c.6714G>T (p.Glu2238Asp)
c.6648G>T (p.Glu2216Asp)
c.6711G>T (p.Glu2237Asp)
c.6708G>T (p.Glu2236Asp)
c.6654G>T (p.Glu2218Asp)
c.6624G>T (p.Glu2208Asp)
c.6579G>T (p.Glu2193Asp)
c.6174G>T (p.Glu2058Asp)
c.5532G>T (p.Glu1844Asp)
c.3042G>T (p.Glu1014Asp)
n.6957G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71793447_71793456dupCA1918874512CDH23c.6519_6528dup (p.Pro2177ValfsTer15)
c.6534_6543dup (p.Pro2182ValfsTer15)
c.6714_6723dup (p.Pro2242ValfsTer15)
c.6648_6657dup (p.Pro2220ValfsTer15)
c.6711_6720dup (p.Pro2241ValfsTer15)
c.6708_6717dup (p.Pro2240ValfsTer15)
c.6654_6663dup (p.Pro2222ValfsTer15)
c.6624_6633dup (p.Pro2212ValfsTer15)
c.6579_6588dup (p.Pro2197ValfsTer15)
c.6174_6183dup (p.Pro2062ValfsTer15)
c.5532_5541dup (p.Pro1848ValfsTer15)
c.3042_3051dup (p.Pro1018ValfsTer15)
n.6957_6966dup
 dbSNP
10g.71793448T>ACA377155235CDH23c.6520T>A (p.Phe2174Ile)
c.6535T>A (p.Phe2179Ile)
c.6715T>A (p.Phe2239Ile)
c.6649T>A (p.Phe2217Ile)
c.6712T>A (p.Phe2238Ile)
c.6709T>A (p.Phe2237Ile)
c.6655T>A (p.Phe2219Ile)
c.6625T>A (p.Phe2209Ile)
c.6580T>A (p.Phe2194Ile)
c.6175T>A (p.Phe2059Ile)
c.5533T>A (p.Phe1845Ile)
c.3043T>A (p.Phe1015Ile)
n.6958T>A
10g.71793448T>CCA377155236CDH23c.6520T>C (p.Phe2174Leu)
c.6535T>C (p.Phe2179Leu)
c.6715T>C (p.Phe2239Leu)
c.6649T>C (p.Phe2217Leu)
c.6712T>C (p.Phe2238Leu)
c.6709T>C (p.Phe2237Leu)
c.6655T>C (p.Phe2219Leu)
c.6625T>C (p.Phe2209Leu)
c.6580T>C (p.Phe2194Leu)
c.6175T>C (p.Phe2059Leu)
c.5533T>C (p.Phe1845Leu)
c.3043T>C (p.Phe1015Leu)
n.6958T>C
10g.71793448T>GCA377155237CDH23c.6520T>G (p.Phe2174Val)
c.6535T>G (p.Phe2179Val)
c.6715T>G (p.Phe2239Val)
c.6649T>G (p.Phe2217Val)
c.6712T>G (p.Phe2238Val)
c.6709T>G (p.Phe2237Val)
c.6655T>G (p.Phe2219Val)
c.6625T>G (p.Phe2209Val)
c.6580T>G (p.Phe2194Val)
c.6175T>G (p.Phe2059Val)
c.5533T>G (p.Phe1845Val)
c.3043T>G (p.Phe1015Val)
n.6958T>G
10g.71793449T>ACA377155238CDH23c.6521T>A (p.Phe2174Tyr)
c.6536T>A (p.Phe2179Tyr)
c.6716T>A (p.Phe2239Tyr)
c.6650T>A (p.Phe2217Tyr)
c.6713T>A (p.Phe2238Tyr)
c.6710T>A (p.Phe2237Tyr)
c.6656T>A (p.Phe2219Tyr)
c.6626T>A (p.Phe2209Tyr)
c.6581T>A (p.Phe2194Tyr)
c.6176T>A (p.Phe2059Tyr)
c.5534T>A (p.Phe1845Tyr)
c.3044T>A (p.Phe1015Tyr)
n.6959T>A
10g.71793449T>CCA377155240CDH23c.6521T>C (p.Phe2174Ser)
c.6536T>C (p.Phe2179Ser)
c.6716T>C (p.Phe2239Ser)
c.6650T>C (p.Phe2217Ser)
c.6713T>C (p.Phe2238Ser)
c.6710T>C (p.Phe2237Ser)
c.6656T>C (p.Phe2219Ser)
c.6626T>C (p.Phe2209Ser)
c.6581T>C (p.Phe2194Ser)
c.6176T>C (p.Phe2059Ser)
c.5534T>C (p.Phe1845Ser)
c.3044T>C (p.Phe1015Ser)
n.6959T>C
10g.71793449T>GCA377155239CDH23c.6521T>G (p.Phe2174Cys)
c.6536T>G (p.Phe2179Cys)
c.6716T>G (p.Phe2239Cys)
c.6650T>G (p.Phe2217Cys)
c.6713T>G (p.Phe2238Cys)
c.6710T>G (p.Phe2237Cys)
c.6656T>G (p.Phe2219Cys)
c.6626T>G (p.Phe2209Cys)
c.6581T>G (p.Phe2194Cys)
c.6176T>G (p.Phe2059Cys)
c.5534T>G (p.Phe1845Cys)
c.3044T>G (p.Phe1015Cys)
n.6959T>G
10g.71793450C>ACA377155241CDH23c.6522C>A (p.Phe2174Leu)
c.6537C>A (p.Phe2179Leu)
c.6717C>A (p.Phe2239Leu)
c.6651C>A (p.Phe2217Leu)
c.6714C>A (p.Phe2238Leu)
c.6711C>A (p.Phe2237Leu)
c.6657C>A (p.Phe2219Leu)
c.6627C>A (p.Phe2209Leu)
c.6582C>A (p.Phe2194Leu)
c.6177C>A (p.Phe2059Leu)
c.5535C>A (p.Phe1845Leu)
c.3045C>A (p.Phe1015Leu)
n.6960C>A
10g.71793450C=CA1918874514CDH23c.6522C= (p.Phe2174=)
c.6537C= (p.Phe2179=)
c.6717C= (p.Phe2239=)
c.6651C= (p.Phe2217=)
c.6714C= (p.Phe2238=)
c.6711C= (p.Phe2237=)
c.6657C= (p.Phe2219=)
c.6627C= (p.Phe2209=)
c.6582C= (p.Phe2194=)
c.6177C= (p.Phe2059=)
c.5535C= (p.Phe1845=)
c.3045C= (p.Phe1015=)
n.6960C=
10g.71793450C>GCA377155242CDH23c.6522C>G (p.Phe2174Leu)
c.6537C>G (p.Phe2179Leu)
c.6717C>G (p.Phe2239Leu)
c.6651C>G (p.Phe2217Leu)
c.6714C>G (p.Phe2238Leu)
c.6711C>G (p.Phe2237Leu)
c.6657C>G (p.Phe2219Leu)
c.6627C>G (p.Phe2209Leu)
c.6582C>G (p.Phe2194Leu)
c.6177C>G (p.Phe2059Leu)
c.5535C>G (p.Phe1845Leu)
c.3045C>G (p.Phe1015Leu)
n.6960C>G
10g.71793450C>TCA5546104CDH23c.6522C>T (p.Phe2174=)
c.6537C>T (p.Phe2179=)
c.6717C>T (p.Phe2239=)
c.6651C>T (p.Phe2217=)
c.6714C>T (p.Phe2238=)
c.6711C>T (p.Phe2237=)
c.6657C>T (p.Phe2219=)
c.6627C>T (p.Phe2209=)
c.6582C>T (p.Phe2194=)
c.6177C>T (p.Phe2059=)
c.5535C>T (p.Phe1845=)
c.3045C>T (p.Phe1015=)
n.6960C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71793451C>ACA377155243CDH23c.6523C>A (p.Leu2175Ile)
c.6538C>A (p.Leu2180Ile)
c.6718C>A (p.Leu2240Ile)
c.6652C>A (p.Leu2218Ile)
c.6715C>A (p.Leu2239Ile)
c.6712C>A (p.Leu2238Ile)
c.6658C>A (p.Leu2220Ile)
c.6628C>A (p.Leu2210Ile)
c.6583C>A (p.Leu2195Ile)
c.6178C>A (p.Leu2060Ile)
c.5536C>A (p.Leu1846Ile)
c.3046C>A (p.Leu1016Ile)
n.6961C>A
10g.71793451C>GCA377155245CDH23c.6523C>G (p.Leu2175Val)
c.6538C>G (p.Leu2180Val)
c.6718C>G (p.Leu2240Val)
c.6652C>G (p.Leu2218Val)
c.6715C>G (p.Leu2239Val)
c.6712C>G (p.Leu2238Val)
c.6658C>G (p.Leu2220Val)
c.6628C>G (p.Leu2210Val)
c.6583C>G (p.Leu2195Val)
c.6178C>G (p.Leu2060Val)
c.5536C>G (p.Leu1846Val)
c.3046C>G (p.Leu1016Val)
n.6961C>G
10g.71793451C>TCA377155244CDH23c.6523C>T (p.Leu2175Phe)
c.6538C>T (p.Leu2180Phe)
c.6718C>T (p.Leu2240Phe)
c.6652C>T (p.Leu2218Phe)
c.6715C>T (p.Leu2239Phe)
c.6712C>T (p.Leu2238Phe)
c.6658C>T (p.Leu2220Phe)
c.6628C>T (p.Leu2210Phe)
c.6583C>T (p.Leu2195Phe)
c.6178C>T (p.Leu2060Phe)
c.5536C>T (p.Leu1846Phe)
c.3046C>T (p.Leu1016Phe)
n.6961C>T
 gnomAD v4
10g.71793452T>ACA377155246CDH23c.6524T>A (p.Leu2175His)
c.6539T>A (p.Leu2180His)
c.6719T>A (p.Leu2240His)
c.6653T>A (p.Leu2218His)
c.6716T>A (p.Leu2239His)
c.6713T>A (p.Leu2238His)
c.6659T>A (p.Leu2220His)
c.6629T>A (p.Leu2210His)
c.6584T>A (p.Leu2195His)
c.6179T>A (p.Leu2060His)
c.5537T>A (p.Leu1846His)
c.3047T>A (p.Leu1016His)
n.6962T>A
10g.71793452T>CCA377155247CDH23c.6524T>C (p.Leu2175Pro)
c.6539T>C (p.Leu2180Pro)
c.6719T>C (p.Leu2240Pro)
c.6653T>C (p.Leu2218Pro)
c.6716T>C (p.Leu2239Pro)
c.6713T>C (p.Leu2238Pro)
c.6659T>C (p.Leu2220Pro)
c.6629T>C (p.Leu2210Pro)
c.6584T>C (p.Leu2195Pro)
c.6179T>C (p.Leu2060Pro)
c.5537T>C (p.Leu1846Pro)
c.3047T>C (p.Leu1016Pro)
n.6962T>C
 dbSNP
10g.71793452T>GCA377155248CDH23c.6524T>G (p.Leu2175Arg)
c.6539T>G (p.Leu2180Arg)
c.6719T>G (p.Leu2240Arg)
c.6653T>G (p.Leu2218Arg)
c.6716T>G (p.Leu2239Arg)
c.6713T>G (p.Leu2238Arg)
c.6659T>G (p.Leu2220Arg)
c.6629T>G (p.Leu2210Arg)
c.6584T>G (p.Leu2195Arg)
c.6179T>G (p.Leu2060Arg)
c.5537T>G (p.Leu1846Arg)
c.3047T>G (p.Leu1016Arg)
n.6962T>G
10g.71793454_71793485dupCA2580081866CDH23c.6526_6557dup (p.Ala2187ThrfsTer6)
c.6541_6572dup (p.Ala2192ThrfsTer6)
c.6721_6752dup (p.Ala2252ThrfsTer6)
c.6655_6686dup (p.Ala2230ThrfsTer6)
c.6718_6749dup (p.Ala2251ThrfsTer6)
c.6715_6746dup (p.Ala2250ThrfsTer6)
c.6661_6692dup (p.Ala2232ThrfsTer6)
c.6631_6662dup (p.Ala2222ThrfsTer6)
c.6586_6617dup (p.Ala2207ThrfsTer6)
c.6181_6212dup (p.Ala2072ThrfsTer6)
c.5539_5570dup (p.Ala1858ThrfsTer6)
c.3049_3080dup (p.Ala1028ThrfsTer6)
n.6964_6995dup
 ClinVar
10g.71793453C>ACA5546106CDH23c.6525C>A (p.Leu2175=)
c.6540C>A (p.Leu2180=)
c.6720C>A (p.Leu2240=)
c.6654C>A (p.Leu2218=)
c.6717C>A (p.Leu2239=)
c.6714C>A (p.Leu2238=)
c.6660C>A (p.Leu2220=)
c.6630C>A (p.Leu2210=)
c.6585C>A (p.Leu2195=)
c.6180C>A (p.Leu2060=)
c.5538C>A (p.Leu1846=)
c.3048C>A (p.Leu1016=)
n.6963C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71793453C=CA1918874515CDH23c.6525C= (p.Leu2175=)
c.6540C= (p.Leu2180=)
c.6720C= (p.Leu2240=)
c.6654C= (p.Leu2218=)
c.6717C= (p.Leu2239=)
c.6714C= (p.Leu2238=)
c.6660C= (p.Leu2220=)
c.6630C= (p.Leu2210=)
c.6585C= (p.Leu2195=)
c.6180C= (p.Leu2060=)
c.5538C= (p.Leu1846=)
c.3048C= (p.Leu1016=)
n.6963C=
10g.71793453C>TCA5546105CDH23c.6525C>T (p.Leu2175=)
c.6540C>T (p.Leu2180=)
c.6720C>T (p.Leu2240=)
c.6654C>T (p.Leu2218=)
c.6717C>T (p.Leu2239=)
c.6714C>T (p.Leu2238=)
c.6660C>T (p.Leu2220=)
c.6630C>T (p.Leu2210=)
c.6585C>T (p.Leu2195=)
c.6180C>T (p.Leu2060=)
c.5538C>T (p.Leu1846=)
c.3048C>T (p.Leu1016=)
n.6963C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71793454A>CCA377155249CDH23c.6526A>C (p.Asn2176His)
c.6541A>C (p.Asn2181His)
c.6721A>C (p.Asn2241His)
c.6655A>C (p.Asn2219His)
c.6718A>C (p.Asn2240His)
c.6715A>C (p.Asn2239His)
c.6661A>C (p.Asn2221His)
c.6631A>C (p.Asn2211His)
c.6586A>C (p.Asn2196His)
c.6181A>C (p.Asn2061His)
c.5539A>C (p.Asn1847His)
c.3049A>C (p.Asn1017His)
n.6964A>C
10g.71793454A>GCA377155250CDH23c.6526A>G (p.Asn2176Asp)
c.6541A>G (p.Asn2181Asp)
c.6721A>G (p.Asn2241Asp)
c.6655A>G (p.Asn2219Asp)
c.6718A>G (p.Asn2240Asp)
c.6715A>G (p.Asn2239Asp)
c.6661A>G (p.Asn2221Asp)
c.6631A>G (p.Asn2211Asp)
c.6586A>G (p.Asn2196Asp)
c.6181A>G (p.Asn2061Asp)
c.5539A>G (p.Asn1847Asp)
c.3049A>G (p.Asn1017Asp)
n.6964A>G
10g.71793454A>TCA377155251CDH23c.6526A>T (p.Asn2176Tyr)
c.6541A>T (p.Asn2181Tyr)
c.6721A>T (p.Asn2241Tyr)
c.6655A>T (p.Asn2219Tyr)
c.6718A>T (p.Asn2240Tyr)
c.6715A>T (p.Asn2239Tyr)
c.6661A>T (p.Asn2221Tyr)
c.6631A>T (p.Asn2211Tyr)
c.6586A>T (p.Asn2196Tyr)
c.6181A>T (p.Asn2061Tyr)
c.5539A>T (p.Asn1847Tyr)
c.3049A>T (p.Asn1017Tyr)
n.6964A>T
10g.71793455A=CA1918874517CDH23c.6527A= (p.Asn2176=)
c.6542A= (p.Asn2181=)
c.6722A= (p.Asn2241=)
c.6656A= (p.Asn2219=)
c.6719A= (p.Asn2240=)
c.6716A= (p.Asn2239=)
c.6662A= (p.Asn2221=)
c.6632A= (p.Asn2211=)
c.6587A= (p.Asn2196=)
c.6182A= (p.Asn2061=)
c.5540A= (p.Asn1847=)
c.3050A= (p.Asn1017=)
n.6965A=
10g.71793455A>CCA377155252CDH23c.6527A>C (p.Asn2176Thr)
c.6542A>C (p.Asn2181Thr)
c.6722A>C (p.Asn2241Thr)
c.6656A>C (p.Asn2219Thr)
c.6719A>C (p.Asn2240Thr)
c.6716A>C (p.Asn2239Thr)
c.6662A>C (p.Asn2221Thr)
c.6632A>C (p.Asn2211Thr)
c.6587A>C (p.Asn2196Thr)
c.6182A>C (p.Asn2061Thr)
c.5540A>C (p.Asn1847Thr)
c.3050A>C (p.Asn1017Thr)
n.6965A>C
 dbSNP
10g.71793455A>GCA209466262CDH23c.6527A>G (p.Asn2176Ser)
c.6542A>G (p.Asn2181Ser)
c.6722A>G (p.Asn2241Ser)
c.6656A>G (p.Asn2219Ser)
c.6719A>G (p.Asn2240Ser)
c.6716A>G (p.Asn2239Ser)
c.6662A>G (p.Asn2221Ser)
c.6632A>G (p.Asn2211Ser)
c.6587A>G (p.Asn2196Ser)
c.6182A>G (p.Asn2061Ser)
c.5540A>G (p.Asn1847Ser)
c.3050A>G (p.Asn1017Ser)
n.6965A>G
 dbSNP gnomAD v4
10g.71793455A>TCA5546107CDH23c.6527A>T (p.Asn2176Ile)
c.6542A>T (p.Asn2181Ile)
c.6722A>T (p.Asn2241Ile)
c.6656A>T (p.Asn2219Ile)
c.6719A>T (p.Asn2240Ile)
c.6716A>T (p.Asn2239Ile)
c.6662A>T (p.Asn2221Ile)
c.6632A>T (p.Asn2211Ile)
c.6587A>T (p.Asn2196Ile)
c.6182A>T (p.Asn2061Ile)
c.5540A>T (p.Asn1847Ile)
c.3050A>T (p.Asn1017Ile)
n.6965A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71793456C>ACA5546108CDH23c.6528C>A (p.Asn2176Lys)
c.6543C>A (p.Asn2181Lys)
c.6723C>A (p.Asn2241Lys)
c.6657C>A (p.Asn2219Lys)
c.6720C>A (p.Asn2240Lys)
c.6717C>A (p.Asn2239Lys)
c.6663C>A (p.Asn2221Lys)
c.6633C>A (p.Asn2211Lys)
c.6588C>A (p.Asn2196Lys)
c.6183C>A (p.Asn2061Lys)
c.5541C>A (p.Asn1847Lys)
c.3051C>A (p.Asn1017Lys)
n.6966C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71793456C=CA1918874519CDH23c.6528C= (p.Asn2176=)
c.6543C= (p.Asn2181=)
c.6723C= (p.Asn2241=)
c.6657C= (p.Asn2219=)
c.6720C= (p.Asn2240=)
c.6717C= (p.Asn2239=)
c.6663C= (p.Asn2221=)
c.6633C= (p.Asn2211=)
c.6588C= (p.Asn2196=)
c.6183C= (p.Asn2061=)
c.5541C= (p.Asn1847=)
c.3051C= (p.Asn1017=)
n.6966C=
10g.71793456C>GCA377155253CDH23c.6528C>G (p.Asn2176Lys)
c.6543C>G (p.Asn2181Lys)
c.6723C>G (p.Asn2241Lys)
c.6657C>G (p.Asn2219Lys)
c.6720C>G (p.Asn2240Lys)
c.6717C>G (p.Asn2239Lys)
c.6663C>G (p.Asn2221Lys)
c.6633C>G (p.Asn2211Lys)
c.6588C>G (p.Asn2196Lys)
c.6183C>G (p.Asn2061Lys)
c.5541C>G (p.Asn1847Lys)
c.3051C>G (p.Asn1017Lys)
n.6966C>G
10g.71793456C>TCA2580081867CDH23c.6528C>T (p.Asn2176=)
c.6543C>T (p.Asn2181=)
c.6723C>T (p.Asn2241=)
c.6657C>T (p.Asn2219=)
c.6720C>T (p.Asn2240=)
c.6717C>T (p.Asn2239=)
c.6663C>T (p.Asn2221=)
c.6633C>T (p.Asn2211=)
c.6588C>T (p.Asn2196=)
c.6183C>T (p.Asn2061=)
c.5541C>T (p.Asn1847=)
c.3051C>T (p.Asn1017=)
n.6966C>T
 ClinVar dbSNP
10g.71793457C>ACA377155254CDH23c.6529C>A (p.Pro2177Thr)
c.6544C>A (p.Pro2182Thr)
c.6724C>A (p.Pro2242Thr)
c.6658C>A (p.Pro2220Thr)
c.6721C>A (p.Pro2241Thr)
c.6718C>A (p.Pro2240Thr)
c.6664C>A (p.Pro2222Thr)
c.6634C>A (p.Pro2212Thr)
c.6589C>A (p.Pro2197Thr)
c.6184C>A (p.Pro2062Thr)
c.5542C>A (p.Pro1848Thr)
c.3052C>A (p.Pro1018Thr)
n.6967C>A
 gnomAD v4
10g.71793457C=CA1918874521CDH23c.6529C= (p.Pro2177=)
c.6544C= (p.Pro2182=)
c.6724C= (p.Pro2242=)
c.6658C= (p.Pro2220=)
c.6721C= (p.Pro2241=)
c.6718C= (p.Pro2240=)
c.6664C= (p.Pro2222=)
c.6634C= (p.Pro2212=)
c.6589C= (p.Pro2197=)
c.6184C= (p.Pro2062=)
c.5542C= (p.Pro1848=)
c.3052C= (p.Pro1018=)
n.6967C=
10g.71793457C>GCA377155255CDH23c.6529C>G (p.Pro2177Ala)
c.6544C>G (p.Pro2182Ala)
c.6724C>G (p.Pro2242Ala)
c.6658C>G (p.Pro2220Ala)
c.6721C>G (p.Pro2241Ala)
c.6718C>G (p.Pro2240Ala)
c.6664C>G (p.Pro2222Ala)
c.6634C>G (p.Pro2212Ala)
c.6589C>G (p.Pro2197Ala)
c.6184C>G (p.Pro2062Ala)
c.5542C>G (p.Pro1848Ala)
c.3052C>G (p.Pro1018Ala)
n.6967C>G
10g.71793457C>TCA377155256CDH23c.6529C>T (p.Pro2177Ser)
c.6544C>T (p.Pro2182Ser)
c.6724C>T (p.Pro2242Ser)
c.6658C>T (p.Pro2220Ser)
c.6721C>T (p.Pro2241Ser)
c.6718C>T (p.Pro2240Ser)
c.6664C>T (p.Pro2222Ser)
c.6634C>T (p.Pro2212Ser)
c.6589C>T (p.Pro2197Ser)
c.6184C>T (p.Pro2062Ser)
c.5542C>T (p.Pro1848Ser)
c.3052C>T (p.Pro1018Ser)
n.6967C>T
10g.71793457_71793458insGACA470061598CDH23c.6529_6530insGA (p.Pro2177ArgfsTer6)
c.6544_6545insGA (p.Pro2182ArgfsTer6)
c.6724_6725insGA (p.Pro2242ArgfsTer6)
c.6658_6659insGA (p.Pro2220ArgfsTer6)
c.6721_6722insGA (p.Pro2241ArgfsTer6)
c.6718_6719insGA (p.Pro2240ArgfsTer6)
c.6664_6665insGA (p.Pro2222ArgfsTer6)
c.6634_6635insGA (p.Pro2212ArgfsTer6)
c.6589_6590insGA (p.Pro2197ArgfsTer6)
c.6184_6185insGA (p.Pro2062ArgfsTer6)
c.5542_5543insGA (p.Pro1848ArgfsTer6)
c.3052_3053insGA (p.Pro1018ArgfsTer6)
n.6967_6968insGA
 dbSNP
10g.71793458C>ACA377155257CDH23c.6530C>A (p.Pro2177His)
c.6545C>A (p.Pro2182His)
c.6725C>A (p.Pro2242His)
c.6659C>A (p.Pro2220His)
c.6722C>A (p.Pro2241His)
c.6719C>A (p.Pro2240His)
c.6665C>A (p.Pro2222His)
c.6635C>A (p.Pro2212His)
c.6590C>A (p.Pro2197His)
c.6185C>A (p.Pro2062His)
c.5543C>A (p.Pro1848His)
c.3053C>A (p.Pro1018His)
n.6968C>A
10g.71793458C=CA1918874523CDH23c.6530C= (p.Pro2177=)
c.6545C= (p.Pro2182=)
c.6725C= (p.Pro2242=)
c.6659C= (p.Pro2220=)
c.6722C= (p.Pro2241=)
c.6719C= (p.Pro2240=)
c.6665C= (p.Pro2222=)
c.6635C= (p.Pro2212=)
c.6590C= (p.Pro2197=)
c.6185C= (p.Pro2062=)
c.5543C= (p.Pro1848=)
c.3053C= (p.Pro1018=)
n.6968C=
10g.71793458C>GCA377155258CDH23c.6530C>G (p.Pro2177Arg)
c.6545C>G (p.Pro2182Arg)
c.6725C>G (p.Pro2242Arg)
c.6659C>G (p.Pro2220Arg)
c.6722C>G (p.Pro2241Arg)
c.6719C>G (p.Pro2240Arg)
c.6665C>G (p.Pro2222Arg)
c.6635C>G (p.Pro2212Arg)
c.6590C>G (p.Pro2197Arg)
c.6185C>G (p.Pro2062Arg)
c.5543C>G (p.Pro1848Arg)
c.3053C>G (p.Pro1018Arg)
n.6968C>G
10g.71793458C>TCA5546109CDH23c.6530C>T (p.Pro2177Leu)
c.6545C>T (p.Pro2182Leu)
c.6725C>T (p.Pro2242Leu)
c.6659C>T (p.Pro2220Leu)
c.6722C>T (p.Pro2241Leu)
c.6719C>T (p.Pro2240Leu)
c.6665C>T (p.Pro2222Leu)
c.6635C>T (p.Pro2212Leu)
c.6590C>T (p.Pro2197Leu)
c.6185C>T (p.Pro2062Leu)
c.5543C>T (p.Pro1848Leu)
c.3053C>T (p.Pro1018Leu)
n.6968C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71793458_71793459insTGGACGACA470061600CDH23c.6530_6531insTGGACGA (p.Ile2178GlyfsTer13)
c.6545_6546insTGGACGA (p.Ile2183GlyfsTer13)
c.6725_6726insTGGACGA (p.Ile2243GlyfsTer13)
c.6659_6660insTGGACGA (p.Ile2221GlyfsTer13)
c.6722_6723insTGGACGA (p.Ile2242GlyfsTer13)
c.6719_6720insTGGACGA (p.Ile2241GlyfsTer13)
c.6665_6666insTGGACGA (p.Ile2223GlyfsTer13)
c.6635_6636insTGGACGA (p.Ile2213GlyfsTer13)
c.6590_6591insTGGACGA (p.Ile2198GlyfsTer13)
c.6185_6186insTGGACGA (p.Ile2063GlyfsTer13)
c.5543_5544insTGGACGA (p.Ile1849GlyfsTer13)
c.3053_3054insTGGACGA (p.Ile1019GlyfsTer13)
n.6968_6969insTGGACGA
 dbSNP
10g.71793459C>ACA645559615CDH23c.6531C>A (p.Pro2177=)
c.6546C>A (p.Pro2182=)
c.6726C>A (p.Pro2242=)
c.6660C>A (p.Pro2220=)
c.6723C>A (p.Pro2241=)
c.6720C>A (p.Pro2240=)
c.6666C>A (p.Pro2222=)
c.6636C>A (p.Pro2212=)
c.6591C>A (p.Pro2197=)
c.6186C>A (p.Pro2062=)
c.5544C>A (p.Pro1848=)
c.3054C>A (p.Pro1018=)
n.6969C>A
 gnomAD v4 COSMIC
10g.71793460A=CA1918874525CDH23c.6532A= (p.Ile2178=)
c.6547A= (p.Ile2183=)
c.6727A= (p.Ile2243=)
c.6661A= (p.Ile2221=)
c.6724A= (p.Ile2242=)
c.6721A= (p.Ile2241=)
c.6667A= (p.Ile2223=)
c.6637A= (p.Ile2213=)
c.6592A= (p.Ile2198=)
c.6187A= (p.Ile2063=)
c.5545A= (p.Ile1849=)
c.3055A= (p.Ile1019=)
n.6970A=
10g.71793460A>CCA377155259CDH23c.6532A>C (p.Ile2178Leu)
c.6547A>C (p.Ile2183Leu)
c.6727A>C (p.Ile2243Leu)
c.6661A>C (p.Ile2221Leu)
c.6724A>C (p.Ile2242Leu)
c.6721A>C (p.Ile2241Leu)
c.6667A>C (p.Ile2223Leu)
c.6637A>C (p.Ile2213Leu)
c.6592A>C (p.Ile2198Leu)
c.6187A>C (p.Ile2063Leu)
c.5545A>C (p.Ile1849Leu)
c.3055A>C (p.Ile1019Leu)
n.6970A>C
10g.71793460A>GCA377155260CDH23c.6532A>G (p.Ile2178Val)
c.6547A>G (p.Ile2183Val)
c.6727A>G (p.Ile2243Val)
c.6661A>G (p.Ile2221Val)
c.6724A>G (p.Ile2242Val)
c.6721A>G (p.Ile2241Val)
c.6667A>G (p.Ile2223Val)
c.6637A>G (p.Ile2213Val)
c.6592A>G (p.Ile2198Val)
c.6187A>G (p.Ile2063Val)
c.5545A>G (p.Ile1849Val)
c.3055A>G (p.Ile1019Val)
n.6970A>G
10g.71793460A>TCA5546110CDH23c.6532A>T (p.Ile2178Phe)
c.6547A>T (p.Ile2183Phe)
c.6727A>T (p.Ile2243Phe)
c.6661A>T (p.Ile2221Phe)
c.6724A>T (p.Ile2242Phe)
c.6721A>T (p.Ile2241Phe)
c.6667A>T (p.Ile2223Phe)
c.6637A>T (p.Ile2213Phe)
c.6592A>T (p.Ile2198Phe)
c.6187A>T (p.Ile2063Phe)
c.5545A>T (p.Ile1849Phe)
c.3055A>T (p.Ile1019Phe)
n.6970A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71793461T>ACA209466274CDH23c.6533T>A (p.Ile2178Asn)
c.6548T>A (p.Ile2183Asn)
c.6728T>A (p.Ile2243Asn)
c.6662T>A (p.Ile2221Asn)
c.6725T>A (p.Ile2242Asn)
c.6722T>A (p.Ile2241Asn)
c.6668T>A (p.Ile2223Asn)
c.6638T>A (p.Ile2213Asn)
c.6593T>A (p.Ile2198Asn)
c.6188T>A (p.Ile2063Asn)
c.5546T>A (p.Ile1849Asn)
c.3056T>A (p.Ile1019Asn)
n.6971T>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71793461T>CCA377155261CDH23c.6533T>C (p.Ile2178Thr)
c.6548T>C (p.Ile2183Thr)
c.6728T>C (p.Ile2243Thr)
c.6662T>C (p.Ile2221Thr)
c.6725T>C (p.Ile2242Thr)
c.6722T>C (p.Ile2241Thr)
c.6668T>C (p.Ile2223Thr)
c.6638T>C (p.Ile2213Thr)
c.6593T>C (p.Ile2198Thr)
c.6188T>C (p.Ile2063Thr)
c.5546T>C (p.Ile1849Thr)
c.3056T>C (p.Ile1019Thr)
n.6971T>C
10g.71793461T>GCA377155262CDH23c.6533T>G (p.Ile2178Ser)
c.6548T>G (p.Ile2183Ser)
c.6728T>G (p.Ile2243Ser)
c.6662T>G (p.Ile2221Ser)
c.6725T>G (p.Ile2242Ser)
c.6722T>G (p.Ile2241Ser)
c.6668T>G (p.Ile2223Ser)
c.6638T>G (p.Ile2213Ser)
c.6593T>G (p.Ile2198Ser)
c.6188T>G (p.Ile2063Ser)
c.5546T>G (p.Ile1849Ser)
c.3056T>G (p.Ile1019Ser)
n.6971T>G
10g.71793461T=CA1918874527CDH23c.6533T= (p.Ile2178=)
c.6548T= (p.Ile2183=)
c.6728T= (p.Ile2243=)
c.6662T= (p.Ile2221=)
c.6725T= (p.Ile2242=)
c.6722T= (p.Ile2241=)
c.6668T= (p.Ile2223=)
c.6638T= (p.Ile2213=)
c.6593T= (p.Ile2198=)
c.6188T= (p.Ile2063=)
c.5546T= (p.Ile1849=)
c.3056T= (p.Ile1019=)
n.6971T=
10g.71793462C>ACA2722050920CDH23c.6534C>A (p.Ile2178=)
c.6549C>A (p.Ile2183=)
c.6729C>A (p.Ile2243=)
c.6663C>A (p.Ile2221=)
c.6726C>A (p.Ile2242=)
c.6723C>A (p.Ile2241=)
c.6669C>A (p.Ile2223=)
c.6639C>A (p.Ile2213=)
c.6594C>A (p.Ile2198=)
c.6189C>A (p.Ile2063=)
c.5547C>A (p.Ile1849=)
c.3057C>A (p.Ile1019=)
n.6972C>A
 dbSNP
10g.71793462C=CA1918874529CDH23c.6534C= (p.Ile2178=)
c.6549C= (p.Ile2183=)
c.6729C= (p.Ile2243=)
c.6663C= (p.Ile2221=)
c.6726C= (p.Ile2242=)
c.6723C= (p.Ile2241=)
c.6669C= (p.Ile2223=)
c.6639C= (p.Ile2213=)
c.6594C= (p.Ile2198=)
c.6189C= (p.Ile2063=)
c.5547C= (p.Ile1849=)
c.3057C= (p.Ile1019=)
n.6972C=
10g.71793462C>GCA377155263CDH23c.6534C>G (p.Ile2178Met)
c.6549C>G (p.Ile2183Met)
c.6729C>G (p.Ile2243Met)
c.6663C>G (p.Ile2221Met)
c.6726C>G (p.Ile2242Met)
c.6723C>G (p.Ile2241Met)
c.6669C>G (p.Ile2223Met)
c.6639C>G (p.Ile2213Met)
c.6594C>G (p.Ile2198Met)
c.6189C>G (p.Ile2063Met)
c.5547C>G (p.Ile1849Met)
c.3057C>G (p.Ile1019Met)
n.6972C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71793462C>TCA2499220353CDH23c.6534C>T (p.Ile2178=)
c.6549C>T (p.Ile2183=)
c.6729C>T (p.Ile2243=)
c.6663C>T (p.Ile2221=)
c.6726C>T (p.Ile2242=)
c.6723C>T (p.Ile2241=)
c.6669C>T (p.Ile2223=)
c.6639C>T (p.Ile2213=)
c.6594C>T (p.Ile2198=)
c.6189C>T (p.Ile2063=)
c.5547C>T (p.Ile1849=)
c.3057C>T (p.Ile1019=)
n.6972C>T
 ClinVar dbSNP
10g.71793462_71793463insATCATGTTCCAGCCCCTGTCGGCTGAGAACCTGGGCCA2529514332CDH23c.6534_6535insATCATGTTCCAGCCCCTGTCGGCTGAGAACCTGGGC (p.Ile2178_Gln2179insIleMetPheGlnProLeuSerAlaGluAsnLeuGly)
c.6549_6550insATCATGTTCCAGCCCCTGTCGGCTGAGAACCTGGGC (p.Ile2183_Gln2184insIleMetPheGlnProLeuSerAlaGluAsnLeuGly)
c.6729_6730insATCATGTTCCAGCCCCTGTCGGCTGAGAACCTGGGC (p.Ile2243_Gln2244insIleMetPheGlnProLeuSerAlaGluAsnLeuGly)
c.6663_6664insATCATGTTCCAGCCCCTGTCGGCTGAGAACCTGGGC (p.Ile2221_Gln2222insIleMetPheGlnProLeuSerAlaGluAsnLeuGly)
c.6726_6727insATCATGTTCCAGCCCCTGTCGGCTGAGAACCTGGGC (p.Ile2242_Gln2243insIleMetPheGlnProLeuSerAlaGluAsnLeuGly)
c.6723_6724insATCATGTTCCAGCCCCTGTCGGCTGAGAACCTGGGC (p.Ile2241_Gln2242insIleMetPheGlnProLeuSerAlaGluAsnLeuGly)
c.6669_6670insATCATGTTCCAGCCCCTGTCGGCTGAGAACCTGGGC (p.Ile2223_Gln2224insIleMetPheGlnProLeuSerAlaGluAsnLeuGly)
c.6639_6640insATCATGTTCCAGCCCCTGTCGGCTGAGAACCTGGGC (p.Ile2213_Gln2214insIleMetPheGlnProLeuSerAlaGluAsnLeuGly)
c.6594_6595insATCATGTTCCAGCCCCTGTCGGCTGAGAACCTGGGC (p.Ile2198_Gln2199insIleMetPheGlnProLeuSerAlaGluAsnLeuGly)
c.6189_6190insATCATGTTCCAGCCCCTGTCGGCTGAGAACCTGGGC (p.Ile2063_Gln2064insIleMetPheGlnProLeuSerAlaGluAsnLeuGly)
c.5547_5548insATCATGTTCCAGCCCCTGTCGGCTGAGAACCTGGGC (p.Ile1849_Gln1850insIleMetPheGlnProLeuSerAlaGluAsnLeuGly)
c.3057_3058insATCATGTTCCAGCCCCTGTCGGCTGAGAACCTGGGC (p.Ile1019_Gln1020insIleMetPheGlnProLeuSerAlaGluAsnLeuGly)
n.6972_6973insATCATGTTCCAGCCCCTGTCGGCTGAGAACCTGGGC
10g.71793462_71793463insATCA918704170CDH23c.6534_6535insAT (p.Gln2179IlefsTer4)
c.6549_6550insAT (p.Gln2184IlefsTer4)
c.6729_6730insAT (p.Gln2244IlefsTer4)
c.6663_6664insAT (p.Gln2222IlefsTer4)
c.6726_6727insAT (p.Gln2243IlefsTer4)
c.6723_6724insAT (p.Gln2242IlefsTer4)
c.6669_6670insAT (p.Gln2224IlefsTer4)
c.6639_6640insAT (p.Gln2214IlefsTer4)
c.6594_6595insAT (p.Gln2199IlefsTer4)
c.6189_6190insAT (p.Gln2064IlefsTer4)
c.5547_5548insAT (p.Gln1850IlefsTer4)
c.3057_3058insAT (p.Gln1020IlefsTer4)
n.6972_6973insAT
 dbSNP
10g.71793462_71793463insATCATGTTCCAGCCCCTGTCGGCTGAGAACCTGGGTCA470061602CDH23c.6534_6535insATCATGTTCCAGCCCCTGTCGGCTGAGAACCTGGGT (p.Ile2178_Gln2179insIleMetPheGlnProLeuSerAlaGluAsnLeuGly)
c.6549_6550insATCATGTTCCAGCCCCTGTCGGCTGAGAACCTGGGT (p.Ile2183_Gln2184insIleMetPheGlnProLeuSerAlaGluAsnLeuGly)
c.6729_6730insATCATGTTCCAGCCCCTGTCGGCTGAGAACCTGGGT (p.Ile2243_Gln2244insIleMetPheGlnProLeuSerAlaGluAsnLeuGly)
c.6663_6664insATCATGTTCCAGCCCCTGTCGGCTGAGAACCTGGGT (p.Ile2221_Gln2222insIleMetPheGlnProLeuSerAlaGluAsnLeuGly)
c.6726_6727insATCATGTTCCAGCCCCTGTCGGCTGAGAACCTGGGT (p.Ile2242_Gln2243insIleMetPheGlnProLeuSerAlaGluAsnLeuGly)
c.6723_6724insATCATGTTCCAGCCCCTGTCGGCTGAGAACCTGGGT (p.Ile2241_Gln2242insIleMetPheGlnProLeuSerAlaGluAsnLeuGly)
c.6669_6670insATCATGTTCCAGCCCCTGTCGGCTGAGAACCTGGGT (p.Ile2223_Gln2224insIleMetPheGlnProLeuSerAlaGluAsnLeuGly)
c.6639_6640insATCATGTTCCAGCCCCTGTCGGCTGAGAACCTGGGT (p.Ile2213_Gln2214insIleMetPheGlnProLeuSerAlaGluAsnLeuGly)
c.6594_6595insATCATGTTCCAGCCCCTGTCGGCTGAGAACCTGGGT (p.Ile2198_Gln2199insIleMetPheGlnProLeuSerAlaGluAsnLeuGly)
c.6189_6190insATCATGTTCCAGCCCCTGTCGGCTGAGAACCTGGGT (p.Ile2063_Gln2064insIleMetPheGlnProLeuSerAlaGluAsnLeuGly)
c.5547_5548insATCATGTTCCAGCCCCTGTCGGCTGAGAACCTGGGT (p.Ile1849_Gln1850insIleMetPheGlnProLeuSerAlaGluAsnLeuGly)
c.3057_3058insATCATGTTCCAGCCCCTGTCGGCTGAGAACCTGGGT (p.Ile1019_Gln1020insIleMetPheGlnProLeuSerAlaGluAsnLeuGly)
n.6972_6973insATCATGTTCCAGCCCCTGTCGGCTGAGAACCTGGGT
10g.71793463C>ACA377155266CDH23c.6535C>A (p.Gln2179Lys)
c.6550C>A (p.Gln2184Lys)
c.6730C>A (p.Gln2244Lys)
c.6664C>A (p.Gln2222Lys)
c.6727C>A (p.Gln2243Lys)
c.6724C>A (p.Gln2242Lys)
c.6670C>A (p.Gln2224Lys)
c.6640C>A (p.Gln2214Lys)
c.6595C>A (p.Gln2199Lys)
c.6190C>A (p.Gln2064Lys)
c.5548C>A (p.Gln1850Lys)
c.3058C>A (p.Gln1020Lys)
n.6973C>A
10g.71793463C>GCA377155264CDH23c.6535C>G (p.Gln2179Glu)
c.6550C>G (p.Gln2184Glu)
c.6730C>G (p.Gln2244Glu)
c.6664C>G (p.Gln2222Glu)
c.6727C>G (p.Gln2243Glu)
c.6724C>G (p.Gln2242Glu)
c.6670C>G (p.Gln2224Glu)
c.6640C>G (p.Gln2214Glu)
c.6595C>G (p.Gln2199Glu)
c.6190C>G (p.Gln2064Glu)
c.5548C>G (p.Gln1850Glu)
c.3058C>G (p.Gln1020Glu)
n.6973C>G
10g.71793463C>TCA377155265CDH23c.6535C>T (p.Gln2179Ter)
c.6550C>T (p.Gln2184Ter)
c.6730C>T (p.Gln2244Ter)
c.6664C>T (p.Gln2222Ter)
c.6727C>T (p.Gln2243Ter)
c.6724C>T (p.Gln2242Ter)
c.6670C>T (p.Gln2224Ter)
c.6640C>T (p.Gln2214Ter)
c.6595C>T (p.Gln2199Ter)
c.6190C>T (p.Gln2064Ter)
c.5548C>T (p.Gln1850Ter)
c.3058C>T (p.Gln1020Ter)
n.6973C>T
 dbSNP
10g.71793466_71793469delCA2609580896CDH23c.6538_6541del (p.Thr2180Ter)
c.6553_6556del (p.Thr2185Ter)
c.6733_6736del (p.Thr2245Ter)
c.6667_6670del (p.Thr2223Ter)
c.6730_6733del (p.Thr2244Ter)
c.6727_6730del (p.Thr2243Ter)
c.6673_6676del (p.Thr2225Ter)
c.6643_6646del (p.Thr2215Ter)
c.6598_6601del (p.Thr2200Ter)
c.6193_6196del (p.Thr2065Ter)
c.5551_5554del (p.Thr1851Ter)
c.3061_3064del (p.Thr1021Ter)
n.6976_6979del
 gnomAD v4
10g.71793464A=CA1918874531CDH23c.6536A= (p.Gln2179=)
c.6551A= (p.Gln2184=)
c.6731A= (p.Gln2244=)
c.6665A= (p.Gln2222=)
c.6728A= (p.Gln2243=)
c.6725A= (p.Gln2242=)
c.6671A= (p.Gln2224=)
c.6641A= (p.Gln2214=)
c.6596A= (p.Gln2199=)
c.6191A= (p.Gln2064=)
c.5549A= (p.Gln1850=)
c.3059A= (p.Gln1020=)
n.6974A=
10g.71793464A>CCA377155267CDH23c.6536A>C (p.Gln2179Pro)
c.6551A>C (p.Gln2184Pro)
c.6731A>C (p.Gln2244Pro)
c.6665A>C (p.Gln2222Pro)
c.6728A>C (p.Gln2243Pro)
c.6725A>C (p.Gln2242Pro)
c.6671A>C (p.Gln2224Pro)
c.6641A>C (p.Gln2214Pro)
c.6596A>C (p.Gln2199Pro)
c.6191A>C (p.Gln2064Pro)
c.5549A>C (p.Gln1850Pro)
c.3059A>C (p.Gln1020Pro)
n.6974A>C
10g.71793464A>GCA5546111CDH23c.6536A>G (p.Gln2179Arg)
c.6551A>G (p.Gln2184Arg)
c.6731A>G (p.Gln2244Arg)
c.6665A>G (p.Gln2222Arg)
c.6728A>G (p.Gln2243Arg)
c.6725A>G (p.Gln2242Arg)
c.6671A>G (p.Gln2224Arg)
c.6641A>G (p.Gln2214Arg)
c.6596A>G (p.Gln2199Arg)
c.6191A>G (p.Gln2064Arg)
c.5549A>G (p.Gln1850Arg)
c.3059A>G (p.Gln1020Arg)
n.6974A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71793464A>TCA377155268CDH23c.6536A>T (p.Gln2179Leu)
c.6551A>T (p.Gln2184Leu)
c.6731A>T (p.Gln2244Leu)
c.6665A>T (p.Gln2222Leu)
c.6728A>T (p.Gln2243Leu)
c.6725A>T (p.Gln2242Leu)
c.6671A>T (p.Gln2224Leu)
c.6641A>T (p.Gln2214Leu)
c.6596A>T (p.Gln2199Leu)
c.6191A>T (p.Gln2064Leu)
c.5549A>T (p.Gln1850Leu)
c.3059A>T (p.Gln1020Leu)
n.6974A>T
10g.71793464_71793465insTCA918704172CDH23c.6536_6537insT (p.Gln2179HisfsTer10)
c.6551_6552insT (p.Gln2184HisfsTer10)
c.6731_6732insT (p.Gln2244HisfsTer10)
c.6665_6666insT (p.Gln2222HisfsTer10)
c.6728_6729insT (p.Gln2243HisfsTer10)
c.6725_6726insT (p.Gln2242HisfsTer10)
c.6671_6672insT (p.Gln2224HisfsTer10)
c.6641_6642insT (p.Gln2214HisfsTer10)
c.6596_6597insT (p.Gln2199HisfsTer10)
c.6191_6192insT (p.Gln2064HisfsTer10)
c.5549_5550insT (p.Gln1850HisfsTer10)
c.3059_3060insT (p.Gln1020HisfsTer10)
n.6974_6975insT
 dbSNP
10g.71793465G>CCA377155269CDH23c.6537G>C (p.Gln2179His)
c.6552G>C (p.Gln2184His)
c.6732G>C (p.Gln2244His)
c.6666G>C (p.Gln2222His)
c.6729G>C (p.Gln2243His)
c.6726G>C (p.Gln2242His)
c.6672G>C (p.Gln2224His)
c.6642G>C (p.Gln2214His)
c.6597G>C (p.Gln2199His)
c.6192G>C (p.Gln2064His)
c.5550G>C (p.Gln1850His)
c.3060G>C (p.Gln1020His)
n.6975G>C
 gnomAD v4
10g.71793465G=CA1918874532CDH23c.6537G= (p.Gln2179=)
c.6552G= (p.Gln2184=)
c.6732G= (p.Gln2244=)
c.6666G= (p.Gln2222=)
c.6729G= (p.Gln2243=)
c.6726G= (p.Gln2242=)
c.6672G= (p.Gln2224=)
c.6642G= (p.Gln2214=)
c.6597G= (p.Gln2199=)
c.6192G= (p.Gln2064=)
c.5550G= (p.Gln1850=)
c.3060G= (p.Gln1020=)
n.6975G=
10g.71793465G>TCA377155270CDH23c.6537G>T (p.Gln2179His)
c.6552G>T (p.Gln2184His)
c.6732G>T (p.Gln2244His)
c.6666G>T (p.Gln2222His)
c.6729G>T (p.Gln2243His)
c.6726G>T (p.Gln2242His)
c.6672G>T (p.Gln2224His)
c.6642G>T (p.Gln2214His)
c.6597G>T (p.Gln2199His)
c.6192G>T (p.Gln2064His)
c.5550G>T (p.Gln1850His)
c.3060G>T (p.Gln1020His)
n.6975G>T
10g.71793465_71793466insTTCA918704174CDH23c.6537_6538insTT (p.Thr2180LeufsTer3)
c.6552_6553insTT (p.Thr2185LeufsTer3)
c.6732_6733insTT (p.Thr2245LeufsTer3)
c.6666_6667insTT (p.Thr2223LeufsTer3)
c.6729_6730insTT (p.Thr2244LeufsTer3)
c.6726_6727insTT (p.Thr2243LeufsTer3)
c.6672_6673insTT (p.Thr2225LeufsTer3)
c.6642_6643insTT (p.Thr2215LeufsTer3)
c.6597_6598insTT (p.Thr2200LeufsTer3)
c.6192_6193insTT (p.Thr2065LeufsTer3)
c.5550_5551insTT (p.Thr1851LeufsTer3)
c.3060_3061insTT (p.Thr1021LeufsTer3)
n.6975_6976insTT
 dbSNP
10g.71793466A=CA1918874534CDH23c.6538A= (p.Thr2180=)
c.6553A= (p.Thr2185=)
c.6733A= (p.Thr2245=)
c.6667A= (p.Thr2223=)
c.6730A= (p.Thr2244=)
c.6727A= (p.Thr2243=)
c.6673A= (p.Thr2225=)
c.6643A= (p.Thr2215=)
c.6598A= (p.Thr2200=)
c.6193A= (p.Thr2065=)
c.5551A= (p.Thr1851=)
c.3061A= (p.Thr1021=)
n.6976A=
10g.71793466A>CCA377155271CDH23c.6538A>C (p.Thr2180Pro)
c.6553A>C (p.Thr2185Pro)
c.6733A>C (p.Thr2245Pro)
c.6667A>C (p.Thr2223Pro)
c.6730A>C (p.Thr2244Pro)
c.6727A>C (p.Thr2243Pro)
c.6673A>C (p.Thr2225Pro)
c.6643A>C (p.Thr2215Pro)
c.6598A>C (p.Thr2200Pro)
c.6193A>C (p.Thr2065Pro)
c.5551A>C (p.Thr1851Pro)
c.3061A>C (p.Thr1021Pro)
n.6976A>C
 dbSNP
10g.71793466A>GCA5546112CDH23c.6538A>G (p.Thr2180Ala)
c.6553A>G (p.Thr2185Ala)
c.6733A>G (p.Thr2245Ala)
c.6667A>G (p.Thr2223Ala)
c.6730A>G (p.Thr2244Ala)
c.6727A>G (p.Thr2243Ala)
c.6673A>G (p.Thr2225Ala)
c.6643A>G (p.Thr2215Ala)
c.6598A>G (p.Thr2200Ala)
c.6193A>G (p.Thr2065Ala)
c.5551A>G (p.Thr1851Ala)
c.3061A>G (p.Thr1021Ala)
n.6976A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71793466A>TCA377155272CDH23c.6538A>T (p.Thr2180Ser)
c.6553A>T (p.Thr2185Ser)
c.6733A>T (p.Thr2245Ser)
c.6667A>T (p.Thr2223Ser)
c.6730A>T (p.Thr2244Ser)
c.6727A>T (p.Thr2243Ser)
c.6673A>T (p.Thr2225Ser)
c.6643A>T (p.Thr2215Ser)
c.6598A>T (p.Thr2200Ser)
c.6193A>T (p.Thr2065Ser)
c.5551A>T (p.Thr1851Ser)
c.3061A>T (p.Thr1021Ser)
n.6976A>T
10g.71793466_71793467insTTGTGGGCCTGCA2535257352CDH23c.6538_6539insTTGTGGGCCTG (p.Thr2180IlefsTer6)
c.6553_6554insTTGTGGGCCTG (p.Thr2185IlefsTer6)
c.6733_6734insTTGTGGGCCTG (p.Thr2245IlefsTer6)
c.6667_6668insTTGTGGGCCTG (p.Thr2223IlefsTer6)
c.6730_6731insTTGTGGGCCTG (p.Thr2244IlefsTer6)
c.6727_6728insTTGTGGGCCTG (p.Thr2243IlefsTer6)
c.6673_6674insTTGTGGGCCTG (p.Thr2225IlefsTer6)
c.6643_6644insTTGTGGGCCTG (p.Thr2215IlefsTer6)
c.6598_6599insTTGTGGGCCTG (p.Thr2200IlefsTer6)
c.6193_6194insTTGTGGGCCTG (p.Thr2065IlefsTer6)
c.5551_5552insTTGTGGGCCTG (p.Thr1851IlefsTer6)
c.3061_3062insTTGTGGGCCTG (p.Thr1021IlefsTer6)
n.6976_6977insTTGTGGGCCTG
10g.71793466_71793467insTTGTGGGTCTGCA470061606CDH23c.6538_6539insTTGTGGGTCTG (p.Thr2180IlefsTer6)
c.6553_6554insTTGTGGGTCTG (p.Thr2185IlefsTer6)
c.6733_6734insTTGTGGGTCTG (p.Thr2245IlefsTer6)
c.6667_6668insTTGTGGGTCTG (p.Thr2223IlefsTer6)
c.6730_6731insTTGTGGGTCTG (p.Thr2244IlefsTer6)
c.6727_6728insTTGTGGGTCTG (p.Thr2243IlefsTer6)
c.6673_6674insTTGTGGGTCTG (p.Thr2225IlefsTer6)
c.6643_6644insTTGTGGGTCTG (p.Thr2215IlefsTer6)
c.6598_6599insTTGTGGGTCTG (p.Thr2200IlefsTer6)
c.6193_6194insTTGTGGGTCTG (p.Thr2065IlefsTer6)
c.5551_5552insTTGTGGGTCTG (p.Thr1851IlefsTer6)
c.3061_3062insTTGTGGGTCTG (p.Thr1021IlefsTer6)
n.6976_6977insTTGTGGGTCTG
10g.71793467C>ACA377155273CDH23c.6539C>A (p.Thr2180Lys)
c.6554C>A (p.Thr2185Lys)
c.6734C>A (p.Thr2245Lys)
c.6668C>A (p.Thr2223Lys)
c.6731C>A (p.Thr2244Lys)
c.6728C>A (p.Thr2243Lys)
c.6674C>A (p.Thr2225Lys)
c.6644C>A (p.Thr2215Lys)
c.6599C>A (p.Thr2200Lys)
c.6194C>A (p.Thr2065Lys)
c.5552C>A (p.Thr1851Lys)
c.3062C>A (p.Thr1021Lys)
n.6977C>A
10g.71793467C=CA1918874536CDH23c.6539C= (p.Thr2180=)
c.6554C= (p.Thr2185=)
c.6734C= (p.Thr2245=)
c.6668C= (p.Thr2223=)
c.6731C= (p.Thr2244=)
c.6728C= (p.Thr2243=)
c.6674C= (p.Thr2225=)
c.6644C= (p.Thr2215=)
c.6599C= (p.Thr2200=)
c.6194C= (p.Thr2065=)
c.5552C= (p.Thr1851=)
c.3062C= (p.Thr1021=)
n.6977C=
10g.71793467C>GCA5546113CDH23c.6539C>G (p.Thr2180Arg)
c.6554C>G (p.Thr2185Arg)
c.6734C>G (p.Thr2245Arg)
c.6668C>G (p.Thr2223Arg)
c.6731C>G (p.Thr2244Arg)
c.6728C>G (p.Thr2243Arg)
c.6674C>G (p.Thr2225Arg)
c.6644C>G (p.Thr2215Arg)
c.6599C>G (p.Thr2200Arg)
c.6194C>G (p.Thr2065Arg)
c.5552C>G (p.Thr1851Arg)
c.3062C>G (p.Thr1021Arg)
n.6977C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71793467C>TCA377155274CDH23c.6539C>T (p.Thr2180Ile)
c.6554C>T (p.Thr2185Ile)
c.6734C>T (p.Thr2245Ile)
c.6668C>T (p.Thr2223Ile)
c.6731C>T (p.Thr2244Ile)
c.6728C>T (p.Thr2243Ile)
c.6674C>T (p.Thr2225Ile)
c.6644C>T (p.Thr2215Ile)
c.6599C>T (p.Thr2200Ile)
c.6194C>T (p.Thr2065Ile)
c.5552C>T (p.Thr1851Ile)
c.3062C>T (p.Thr1021Ile)
n.6977C>T
 ClinVar dbSNP
10g.71793469G>ACA377155275CDH23c.6541G>A (p.Val2181Met)
c.6556G>A (p.Val2186Met)
c.6736G>A (p.Val2246Met)
c.6670G>A (p.Val2224Met)
c.6733G>A (p.Val2245Met)
c.6730G>A (p.Val2244Met)
c.6676G>A (p.Val2226Met)
c.6646G>A (p.Val2216Met)
c.6601G>A (p.Val2201Met)
c.6196G>A (p.Val2066Met)
c.5554G>A (p.Val1852Met)
c.3064G>A (p.Val1022Met)
n.6979G>A
 dbSNP
10g.71793469G>CCA377155277CDH23c.6541G>C (p.Val2181Leu)
c.6556G>C (p.Val2186Leu)
c.6736G>C (p.Val2246Leu)
c.6670G>C (p.Val2224Leu)
c.6733G>C (p.Val2245Leu)
c.6730G>C (p.Val2244Leu)
c.6676G>C (p.Val2226Leu)
c.6646G>C (p.Val2216Leu)
c.6601G>C (p.Val2201Leu)
c.6196G>C (p.Val2066Leu)
c.5554G>C (p.Val1852Leu)
c.3064G>C (p.Val1022Leu)
n.6979G>C
 dbSNP
10g.71793469G=CA1918874538CDH23c.6541G= (p.Val2181=)
c.6556G= (p.Val2186=)
c.6736G= (p.Val2246=)
c.6670G= (p.Val2224=)
c.6733G= (p.Val2245=)
c.6730G= (p.Val2244=)
c.6676G= (p.Val2226=)
c.6646G= (p.Val2216=)
c.6601G= (p.Val2201=)
c.6196G= (p.Val2066=)
c.5554G= (p.Val1852=)
c.3064G= (p.Val1022=)
n.6979G=
10g.71793469G>TCA377155276CDH23c.6541G>T (p.Val2181Leu)
c.6556G>T (p.Val2186Leu)
c.6736G>T (p.Val2246Leu)
c.6670G>T (p.Val2224Leu)
c.6733G>T (p.Val2245Leu)
c.6730G>T (p.Val2244Leu)
c.6676G>T (p.Val2226Leu)
c.6646G>T (p.Val2216Leu)
c.6601G>T (p.Val2201Leu)
c.6196G>T (p.Val2066Leu)
c.5554G>T (p.Val1852Leu)
c.3064G>T (p.Val1022Leu)
n.6979G>T
 COSMIC
10g.71793469dupCA470061607CDH23c.6541dup (p.Val2181GlyfsTer8)
c.6556dup (p.Val2186GlyfsTer8)
c.6736dup (p.Val2246GlyfsTer8)
c.6670dup (p.Val2224GlyfsTer8)
c.6733dup (p.Val2245GlyfsTer8)
c.6730dup (p.Val2244GlyfsTer8)
c.6676dup (p.Val2226GlyfsTer8)
c.6646dup (p.Val2216GlyfsTer8)
c.6601dup (p.Val2201GlyfsTer8)
c.6196dup (p.Val2066GlyfsTer8)
c.5554dup (p.Val1852GlyfsTer8)
c.3064dup (p.Val1022GlyfsTer8)
n.6979dup
10g.71793469_71793470insCCCCTGTCGGCCA918704176CDH23c.6541_6542insCCCCTGTCGGC (p.Val2181AlafsTer5)
c.6556_6557insCCCCTGTCGGC (p.Val2186AlafsTer5)
c.6736_6737insCCCCTGTCGGC (p.Val2246AlafsTer5)
c.6670_6671insCCCCTGTCGGC (p.Val2224AlafsTer5)
c.6733_6734insCCCCTGTCGGC (p.Val2245AlafsTer5)
c.6730_6731insCCCCTGTCGGC (p.Val2244AlafsTer5)
c.6676_6677insCCCCTGTCGGC (p.Val2226AlafsTer5)
c.6646_6647insCCCCTGTCGGC (p.Val2216AlafsTer5)
c.6601_6602insCCCCTGTCGGC (p.Val2201AlafsTer5)
c.6196_6197insCCCCTGTCGGC (p.Val2066AlafsTer5)
c.5554_5555insCCCCTGTCGGC (p.Val1852AlafsTer5)
c.3064_3065insCCCCTGTCGGC (p.Val1022AlafsTer5)
n.6979_6980insCCCCTGTCGGC
 dbSNP
10g.71793470T>ACA377155278CDH23c.6542T>A (p.Val2181Glu)
c.6557T>A (p.Val2186Glu)
c.6737T>A (p.Val2246Glu)
c.6671T>A (p.Val2224Glu)
c.6734T>A (p.Val2245Glu)
c.6731T>A (p.Val2244Glu)
c.6677T>A (p.Val2226Glu)
c.6647T>A (p.Val2216Glu)
c.6602T>A (p.Val2201Glu)
c.6197T>A (p.Val2066Glu)
c.5555T>A (p.Val1852Glu)
c.3065T>A (p.Val1022Glu)
n.6980T>A
 dbSNP gnomAD v4
10g.71793470T>CCA377155279CDH23c.6542T>C (p.Val2181Ala)
c.6557T>C (p.Val2186Ala)
c.6737T>C (p.Val2246Ala)
c.6671T>C (p.Val2224Ala)
c.6734T>C (p.Val2245Ala)
c.6731T>C (p.Val2244Ala)
c.6677T>C (p.Val2226Ala)
c.6647T>C (p.Val2216Ala)
c.6602T>C (p.Val2201Ala)
c.6197T>C (p.Val2066Ala)
c.5555T>C (p.Val1852Ala)
c.3065T>C (p.Val1022Ala)
n.6980T>C
10g.71793470T>GCA377155280CDH23c.6542T>G (p.Val2181Gly)
c.6557T>G (p.Val2186Gly)
c.6737T>G (p.Val2246Gly)
c.6671T>G (p.Val2224Gly)
c.6734T>G (p.Val2245Gly)
c.6731T>G (p.Val2244Gly)
c.6677T>G (p.Val2226Gly)
c.6647T>G (p.Val2216Gly)
c.6602T>G (p.Val2201Gly)
c.6197T>G (p.Val2066Gly)
c.5555T>G (p.Val1852Gly)
c.3065T>G (p.Val1022Gly)
n.6980T>G
10g.71793470T=CA1918874539CDH23c.6542T= (p.Val2181=)
c.6557T= (p.Val2186=)
c.6737T= (p.Val2246=)
c.6671T= (p.Val2224=)
c.6734T= (p.Val2245=)
c.6731T= (p.Val2244=)
c.6677T= (p.Val2226=)
c.6647T= (p.Val2216=)
c.6602T= (p.Val2201=)
c.6197T= (p.Val2066=)
c.5555T= (p.Val1852=)
c.3065T= (p.Val1022=)
n.6980T=
10g.71793470_71793471insCAACA470061609CDH23c.6542_6543insCAA (p.Val2181_Ser2182insLys)
c.6557_6558insCAA (p.Val2186_Ser2187insLys)
c.6737_6738insCAA (p.Val2246_Ser2247insLys)
c.6671_6672insCAA (p.Val2224_Ser2225insLys)
c.6734_6735insCAA (p.Val2245_Ser2246insLys)
c.6731_6732insCAA (p.Val2244_Ser2245insLys)
c.6677_6678insCAA (p.Val2226_Ser2227insLys)
c.6647_6648insCAA (p.Val2216_Ser2217insLys)
c.6602_6603insCAA (p.Val2201_Ser2202insLys)
c.6197_6198insCAA (p.Val2066_Ser2067insLys)
c.5555_5556insCAA (p.Val1852_Ser1853insLys)
c.3065_3066insCAA (p.Val1022_Ser1023insLys)
n.6980_6981insCAA
10g.71793471G>ACA5546114CDH23c.6543G>A (p.Val2181=)
c.6558G>A (p.Val2186=)
c.6738G>A (p.Val2246=)
c.6672G>A (p.Val2224=)
c.6735G>A (p.Val2245=)
c.6732G>A (p.Val2244=)
c.6678G>A (p.Val2226=)
c.6648G>A (p.Val2216=)
c.6603G>A (p.Val2201=)
c.6198G>A (p.Val2066=)
c.5556G>A (p.Val1852=)
c.3066G>A (p.Val1022=)
n.6981G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71793471G=CA1918874541CDH23c.6543G= (p.Val2181=)
c.6558G= (p.Val2186=)
c.6738G= (p.Val2246=)
c.6672G= (p.Val2224=)
c.6735G= (p.Val2245=)
c.6732G= (p.Val2244=)
c.6678G= (p.Val2226=)
c.6648G= (p.Val2216=)
c.6603G= (p.Val2201=)
c.6198G= (p.Val2066=)
c.5556G= (p.Val1852=)
c.3066G= (p.Val1022=)
n.6981G=
10g.71793472A>CCA377155281CDH23c.6544A>C (p.Ser2182Arg)
c.6559A>C (p.Ser2187Arg)
c.6739A>C (p.Ser2247Arg)
c.6673A>C (p.Ser2225Arg)
c.6736A>C (p.Ser2246Arg)
c.6733A>C (p.Ser2245Arg)
c.6679A>C (p.Ser2227Arg)
c.6649A>C (p.Ser2217Arg)
c.6604A>C (p.Ser2202Arg)
c.6199A>C (p.Ser2067Arg)
c.5557A>C (p.Ser1853Arg)
c.3067A>C (p.Ser1023Arg)
n.6982A>C
10g.71793472A>GCA377155282CDH23c.6544A>G (p.Ser2182Gly)
c.6559A>G (p.Ser2187Gly)
c.6739A>G (p.Ser2247Gly)
c.6673A>G (p.Ser2225Gly)
c.6736A>G (p.Ser2246Gly)
c.6733A>G (p.Ser2245Gly)
c.6679A>G (p.Ser2227Gly)
c.6649A>G (p.Ser2217Gly)
c.6604A>G (p.Ser2202Gly)
c.6199A>G (p.Ser2067Gly)
c.5557A>G (p.Ser1853Gly)
c.3067A>G (p.Ser1023Gly)
n.6982A>G
10g.71793472A>TCA377155283CDH23c.6544A>T (p.Ser2182Cys)
c.6559A>T (p.Ser2187Cys)
c.6739A>T (p.Ser2247Cys)
c.6673A>T (p.Ser2225Cys)
c.6736A>T (p.Ser2246Cys)
c.6733A>T (p.Ser2245Cys)
c.6679A>T (p.Ser2227Cys)
c.6649A>T (p.Ser2217Cys)
c.6604A>T (p.Ser2202Cys)
c.6199A>T (p.Ser2067Cys)
c.5557A>T (p.Ser1853Cys)
c.3067A>T (p.Ser1023Cys)
n.6982A>T
10g.71793473G>ACA377155284CDH23c.6545G>A (p.Ser2182Asn)
c.6560G>A (p.Ser2187Asn)
c.6740G>A (p.Ser2247Asn)
c.6674G>A (p.Ser2225Asn)
c.6737G>A (p.Ser2246Asn)
c.6734G>A (p.Ser2245Asn)
c.6680G>A (p.Ser2227Asn)
c.6650G>A (p.Ser2217Asn)
c.6605G>A (p.Ser2202Asn)
c.6200G>A (p.Ser2067Asn)
c.5558G>A (p.Ser1853Asn)
c.3068G>A (p.Ser1023Asn)
n.6983G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.71793473G>CCA377155285CDH23c.6545G>C (p.Ser2182Thr)
c.6560G>C (p.Ser2187Thr)
c.6740G>C (p.Ser2247Thr)
c.6674G>C (p.Ser2225Thr)
c.6737G>C (p.Ser2246Thr)
c.6734G>C (p.Ser2245Thr)
c.6680G>C (p.Ser2227Thr)
c.6650G>C (p.Ser2217Thr)
c.6605G>C (p.Ser2202Thr)
c.6200G>C (p.Ser2067Thr)
c.5558G>C (p.Ser1853Thr)
c.3068G>C (p.Ser1023Thr)
n.6983G>C
 gnomAD v4
10g.71793473G=CA1918874542CDH23c.6545G= (p.Ser2182=)
c.6560G= (p.Ser2187=)
c.6740G= (p.Ser2247=)
c.6674G= (p.Ser2225=)
c.6737G= (p.Ser2246=)
c.6734G= (p.Ser2245=)
c.6680G= (p.Ser2227=)
c.6650G= (p.Ser2217=)
c.6605G= (p.Ser2202=)
c.6200G= (p.Ser2067=)
c.5558G= (p.Ser1853=)
c.3068G= (p.Ser1023=)
n.6983G=
10g.71793473G>TCA377155286CDH23c.6545G>T (p.Ser2182Ile)
c.6560G>T (p.Ser2187Ile)
c.6740G>T (p.Ser2247Ile)
c.6674G>T (p.Ser2225Ile)
c.6737G>T (p.Ser2246Ile)
c.6734G>T (p.Ser2245Ile)
c.6680G>T (p.Ser2227Ile)
c.6650G>T (p.Ser2217Ile)
c.6605G>T (p.Ser2202Ile)
c.6200G>T (p.Ser2067Ile)
c.5558G>T (p.Ser1853Ile)
c.3068G>T (p.Ser1023Ile)
n.6983G>T
10g.71793473_71793474insAACCTGGGCCAGATCA918704177CDH23c.6545_6546insAACCTGGGCCAGAT (p.Ser2182ArgfsTer31)
c.6560_6561insAACCTGGGCCAGAT (p.Ser2187ArgfsTer31)
c.6740_6741insAACCTGGGCCAGAT (p.Ser2247ArgfsTer31)
c.6674_6675insAACCTGGGCCAGAT (p.Ser2225ArgfsTer31)
c.6737_6738insAACCTGGGCCAGAT (p.Ser2246ArgfsTer31)
c.6734_6735insAACCTGGGCCAGAT (p.Ser2245ArgfsTer31)
c.6680_6681insAACCTGGGCCAGAT (p.Ser2227ArgfsTer31)
c.6650_6651insAACCTGGGCCAGAT (p.Ser2217ArgfsTer31)
c.6605_6606insAACCTGGGCCAGAT (p.Ser2202ArgfsTer31)
c.6200_6201insAACCTGGGCCAGAT (p.Ser2067ArgfsTer31)
c.5558_5559insAACCTGGGCCAGAT (p.Ser1853ArgfsTer31)
c.3068_3069insAACCTGGGCCAGAT (p.Ser1023ArgfsTer31)
n.6983_6984insAACCTGGGCCAGAT
 dbSNP
10g.71793474C>ACA377155287CDH23c.6546C>A (p.Ser2182Arg)
c.6561C>A (p.Ser2187Arg)
c.6741C>A (p.Ser2247Arg)
c.6675C>A (p.Ser2225Arg)
c.6738C>A (p.Ser2246Arg)
c.6735C>A (p.Ser2245Arg)
c.6681C>A (p.Ser2227Arg)
c.6651C>A (p.Ser2217Arg)
c.6606C>A (p.Ser2202Arg)
c.6201C>A (p.Ser2067Arg)
c.5559C>A (p.Ser1853Arg)
c.3069C>A (p.Ser1023Arg)
n.6984C>A
 gnomAD v4
10g.71793474C=CA1918874544CDH23c.6546C= (p.Ser2182=)
c.6561C= (p.Ser2187=)
c.6741C= (p.Ser2247=)
c.6675C= (p.Ser2225=)
c.6738C= (p.Ser2246=)
c.6735C= (p.Ser2245=)
c.6681C= (p.Ser2227=)
c.6651C= (p.Ser2217=)
c.6606C= (p.Ser2202=)
c.6201C= (p.Ser2067=)
c.5559C= (p.Ser1853=)
c.3069C= (p.Ser1023=)
n.6984C=
10g.71793474C>GCA209466279CDH23c.6546C>G (p.Ser2182Arg)
c.6561C>G (p.Ser2187Arg)
c.6741C>G (p.Ser2247Arg)
c.6675C>G (p.Ser2225Arg)
c.6738C>G (p.Ser2246Arg)
c.6735C>G (p.Ser2245Arg)
c.6681C>G (p.Ser2227Arg)
c.6651C>G (p.Ser2217Arg)
c.6606C>G (p.Ser2202Arg)
c.6201C>G (p.Ser2067Arg)
c.5559C>G (p.Ser1853Arg)
c.3069C>G (p.Ser1023Arg)
n.6984C>G
 dbSNP
10g.71793474C>TCA5546115CDH23c.6546C>T (p.Ser2182=)
c.6561C>T (p.Ser2187=)
c.6741C>T (p.Ser2247=)
c.6675C>T (p.Ser2225=)
c.6738C>T (p.Ser2246=)
c.6735C>T (p.Ser2245=)
c.6681C>T (p.Ser2227=)
c.6651C>T (p.Ser2217=)
c.6606C>T (p.Ser2202=)
c.6201C>T (p.Ser2067=)
c.5559C>T (p.Ser1853=)
c.3069C>T (p.Ser1023=)
n.6984C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
10g.71793475G>ACA5546116CDH23c.6547G>A (p.Val2183Met)
c.6562G>A (p.Val2188Met)
c.6742G>A (p.Val2248Met)
c.6676G>A (p.Val2226Met)
c.6739G>A (p.Val2247Met)
c.6736G>A (p.Val2246Met)
c.6682G>A (p.Val2228Met)
c.6652G>A (p.Val2218Met)
c.6607G>A (p.Val2203Met)
c.6202G>A (p.Val2068Met)
c.5560G>A (p.Val1854Met)
c.3070G>A (p.Val1024Met)
n.6985G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71793475G>CCA377155288CDH23c.6547G>C (p.Val2183Leu)
c.6562G>C (p.Val2188Leu)
c.6742G>C (p.Val2248Leu)
c.6676G>C (p.Val2226Leu)
c.6739G>C (p.Val2247Leu)
c.6736G>C (p.Val2246Leu)
c.6682G>C (p.Val2228Leu)
c.6652G>C (p.Val2218Leu)
c.6607G>C (p.Val2203Leu)
c.6202G>C (p.Val2068Leu)
c.5560G>C (p.Val1854Leu)
c.3070G>C (p.Val1024Leu)
n.6985G>C
10g.71793475G=CA1918874545CDH23c.6547G= (p.Val2183=)
c.6562G= (p.Val2188=)
c.6742G= (p.Val2248=)
c.6676G= (p.Val2226=)
c.6739G= (p.Val2247=)
c.6736G= (p.Val2246=)
c.6682G= (p.Val2228=)
c.6652G= (p.Val2218=)
c.6607G= (p.Val2203=)
c.6202G= (p.Val2068=)
c.5560G= (p.Val1854=)
c.3070G= (p.Val1024=)
n.6985G=
10g.71793475G>TCA377155289CDH23c.6547G>T (p.Val2183Leu)
c.6562G>T (p.Val2188Leu)
c.6742G>T (p.Val2248Leu)
c.6676G>T (p.Val2226Leu)
c.6739G>T (p.Val2247Leu)
c.6736G>T (p.Val2246Leu)
c.6682G>T (p.Val2228Leu)
c.6652G>T (p.Val2218Leu)
c.6607G>T (p.Val2203Leu)
c.6202G>T (p.Val2068Leu)
c.5560G>T (p.Val1854Leu)
c.3070G>T (p.Val1024Leu)
n.6985G>T
 dbSNP gnomAD v3 gnomAD v4
10g.71793476T>ACA377155290CDH23c.6548T>A (p.Val2183Glu)
c.6563T>A (p.Val2188Glu)
c.6743T>A (p.Val2248Glu)
c.6677T>A (p.Val2226Glu)
c.6740T>A (p.Val2247Glu)
c.6737T>A (p.Val2246Glu)
c.6683T>A (p.Val2228Glu)
c.6653T>A (p.Val2218Glu)
c.6608T>A (p.Val2203Glu)
c.6203T>A (p.Val2068Glu)
c.5561T>A (p.Val1854Glu)
c.3071T>A (p.Val1024Glu)
n.6986T>A
10g.71793476T>CCA377155291CDH23c.6548T>C (p.Val2183Ala)
c.6563T>C (p.Val2188Ala)
c.6743T>C (p.Val2248Ala)
c.6677T>C (p.Val2226Ala)
c.6740T>C (p.Val2247Ala)
c.6737T>C (p.Val2246Ala)
c.6683T>C (p.Val2228Ala)
c.6653T>C (p.Val2218Ala)
c.6608T>C (p.Val2203Ala)
c.6203T>C (p.Val2068Ala)
c.5561T>C (p.Val1854Ala)
c.3071T>C (p.Val1024Ala)
n.6986T>C
10g.71793476T>GCA377155292CDH23c.6548T>G (p.Val2183Gly)
c.6563T>G (p.Val2188Gly)
c.6743T>G (p.Val2248Gly)
c.6677T>G (p.Val2226Gly)
c.6740T>G (p.Val2247Gly)
c.6737T>G (p.Val2246Gly)
c.6683T>G (p.Val2228Gly)
c.6653T>G (p.Val2218Gly)
c.6608T>G (p.Val2203Gly)
c.6203T>G (p.Val2068Gly)
c.5561T>G (p.Val1854Gly)
c.3071T>G (p.Val1024Gly)
n.6986T>G
10g.71793477G>ACA209466291CDH23c.6549G>A (p.Val2183=)
c.6564G>A (p.Val2188=)
c.6744G>A (p.Val2248=)
c.6678G>A (p.Val2226=)
c.6741G>A (p.Val2247=)
c.6738G>A (p.Val2246=)
c.6684G>A (p.Val2228=)
c.6654G>A (p.Val2218=)
c.6609G>A (p.Val2203=)
c.6204G>A (p.Val2068=)
c.5562G>A (p.Val1854=)
c.3072G>A (p.Val1024=)
n.6987G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.71793477G=CA1918874547CDH23c.6549G= (p.Val2183=)
c.6564G= (p.Val2188=)
c.6744G= (p.Val2248=)
c.6678G= (p.Val2226=)
c.6741G= (p.Val2247=)
c.6738G= (p.Val2246=)
c.6684G= (p.Val2228=)
c.6654G= (p.Val2218=)
c.6609G= (p.Val2203=)
c.6204G= (p.Val2068=)
c.5562G= (p.Val1854=)
c.3072G= (p.Val1024=)
n.6987G=
10g.71793477G>TCA594706132CDH23c.6549G>T (p.Val2183=)
c.6564G>T (p.Val2188=)
c.6744G>T (p.Val2248=)
c.6678G>T (p.Val2226=)
c.6741G>T (p.Val2247=)
c.6738G>T (p.Val2246=)
c.6684G>T (p.Val2228=)
c.6654G>T (p.Val2218=)
c.6609G>T (p.Val2203=)
c.6204G>T (p.Val2068=)
c.5562G>T (p.Val1854=)
c.3072G>T (p.Val1024=)
n.6987G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71793477_71793478insGGCCA918704178CDH23c.6549_6550insGGC (p.Val2183_Leu2184insGly)
c.6564_6565insGGC (p.Val2188_Leu2189insGly)
c.6744_6745insGGC (p.Val2248_Leu2249insGly)
c.6678_6679insGGC (p.Val2226_Leu2227insGly)
c.6741_6742insGGC (p.Val2247_Leu2248insGly)
c.6738_6739insGGC (p.Val2246_Leu2247insGly)
c.6684_6685insGGC (p.Val2228_Leu2229insGly)
c.6654_6655insGGC (p.Val2218_Leu2219insGly)
c.6609_6610insGGC (p.Val2203_Leu2204insGly)
c.6204_6205insGGC (p.Val2068_Leu2069insGly)
c.5562_5563insGGC (p.Val1854_Leu1855insGly)
c.3072_3073insGGC (p.Val1024_Leu1025insGly)
n.6987_6988insGGC
 dbSNP
10g.71793477_71793478insGCTAAGCGCCA470061611CDH23c.6549_6550insGCTAAGCGC (p.Val2183_Leu2184insAlaLysArg)
c.6564_6565insGCTAAGCGC (p.Val2188_Leu2189insAlaLysArg)
c.6744_6745insGCTAAGCGC (p.Val2248_Leu2249insAlaLysArg)
c.6678_6679insGCTAAGCGC (p.Val2226_Leu2227insAlaLysArg)
c.6741_6742insGCTAAGCGC (p.Val2247_Leu2248insAlaLysArg)
c.6738_6739insGCTAAGCGC (p.Val2246_Leu2247insAlaLysArg)
c.6684_6685insGCTAAGCGC (p.Val2228_Leu2229insAlaLysArg)
c.6654_6655insGCTAAGCGC (p.Val2218_Leu2219insAlaLysArg)
c.6609_6610insGCTAAGCGC (p.Val2203_Leu2204insAlaLysArg)
c.6204_6205insGCTAAGCGC (p.Val2068_Leu2069insAlaLysArg)
c.5562_5563insGCTAAGCGC (p.Val1854_Leu1855insAlaLysArg)
c.3072_3073insGCTAAGCGC (p.Val1024_Leu1025insAlaLysArg)
n.6987_6988insGCTAAGCGC
10g.71793478C>ACA377155293CDH23c.6550C>A (p.Leu2184Met)
c.6565C>A (p.Leu2189Met)
c.6745C>A (p.Leu2249Met)
c.6679C>A (p.Leu2227Met)
c.6742C>A (p.Leu2248Met)
c.6739C>A (p.Leu2247Met)
c.6685C>A (p.Leu2229Met)
c.6655C>A (p.Leu2219Met)
c.6610C>A (p.Leu2204Met)
c.6205C>A (p.Leu2069Met)
c.5563C>A (p.Leu1855Met)
c.3073C>A (p.Leu1025Met)
n.6988C>A
10g.71793478C>GCA377155294CDH23c.6550C>G (p.Leu2184Val)
c.6565C>G (p.Leu2189Val)
c.6745C>G (p.Leu2249Val)
c.6679C>G (p.Leu2227Val)
c.6742C>G (p.Leu2248Val)
c.6739C>G (p.Leu2247Val)
c.6685C>G (p.Leu2229Val)
c.6655C>G (p.Leu2219Val)
c.6610C>G (p.Leu2204Val)
c.6205C>G (p.Leu2069Val)
c.5563C>G (p.Leu1855Val)
c.3073C>G (p.Leu1025Val)
n.6988C>G
10g.71793479T>ACA377155295CDH23c.6551T>A (p.Leu2184Gln)
c.6566T>A (p.Leu2189Gln)
c.6746T>A (p.Leu2249Gln)
c.6680T>A (p.Leu2227Gln)
c.6743T>A (p.Leu2248Gln)
c.6740T>A (p.Leu2247Gln)
c.6686T>A (p.Leu2229Gln)
c.6656T>A (p.Leu2219Gln)
c.6611T>A (p.Leu2204Gln)
c.6206T>A (p.Leu2069Gln)
c.5564T>A (p.Leu1855Gln)
c.3074T>A (p.Leu1025Gln)
n.6989T>A
 dbSNP
10g.71793479T>CCA377155296CDH23c.6551T>C (p.Leu2184Pro)
c.6566T>C (p.Leu2189Pro)
c.6746T>C (p.Leu2249Pro)
c.6680T>C (p.Leu2227Pro)
c.6743T>C (p.Leu2248Pro)
c.6740T>C (p.Leu2247Pro)
c.6686T>C (p.Leu2229Pro)
c.6656T>C (p.Leu2219Pro)
c.6611T>C (p.Leu2204Pro)
c.6206T>C (p.Leu2069Pro)
c.5564T>C (p.Leu1855Pro)
c.3074T>C (p.Leu1025Pro)
n.6989T>C
 dbSNP gnomAD v4
10g.71793479T>GCA377155297CDH23c.6551T>G (p.Leu2184Arg)
c.6566T>G (p.Leu2189Arg)
c.6746T>G (p.Leu2249Arg)
c.6680T>G (p.Leu2227Arg)
c.6743T>G (p.Leu2248Arg)
c.6740T>G (p.Leu2247Arg)
c.6686T>G (p.Leu2229Arg)
c.6656T>G (p.Leu2219Arg)
c.6611T>G (p.Leu2204Arg)
c.6206T>G (p.Leu2069Arg)
c.5564T>G (p.Leu1855Arg)
c.3074T>G (p.Leu1025Arg)
n.6989T>G
10g.71793479T=CA1918874550CDH23c.6551T= (p.Leu2184=)
c.6566T= (p.Leu2189=)
c.6746T= (p.Leu2249=)
c.6680T= (p.Leu2227=)
c.6743T= (p.Leu2248=)
c.6740T= (p.Leu2247=)
c.6686T= (p.Leu2229=)
c.6656T= (p.Leu2219=)
c.6611T= (p.Leu2204=)
c.6206T= (p.Leu2069=)
c.5564T= (p.Leu1855=)
c.3074T= (p.Leu1025=)
n.6989T=
10g.71793479_71793481delinsTGGCA1918874549CDH23c.6551_6553delinsTGG (p.Leu2184=)
c.6566_6568delinsTGG (p.Leu2189=)
c.6746_6748delinsTGG (p.Leu2249=)
c.6680_6682delinsTGG (p.Leu2227=)
c.6743_6745delinsTGG (p.Leu2248=)
c.6740_6742delinsTGG (p.Leu2247=)
c.6686_6688delinsTGG (p.Leu2229=)
c.6656_6658delinsTGG (p.Leu2219=)
c.6611_6613delinsTGG (p.Leu2204=)
c.6206_6208delinsTGG (p.Leu2069=)
c.5564_5566delinsTGG (p.Leu1855=)
c.3074_3076delinsTGG (p.Leu1025=)
n.6989_6991delinsTGG
10g.71793480G>ACA668109232CDH23c.6552G>A (p.Leu2184=)
c.6567G>A (p.Leu2189=)
c.6747G>A (p.Leu2249=)
c.6681G>A (p.Leu2227=)
c.6744G>A (p.Leu2248=)
c.6741G>A (p.Leu2247=)
c.6687G>A (p.Leu2229=)
c.6657G>A (p.Leu2219=)
c.6612G>A (p.Leu2204=)
c.6207G>A (p.Leu2069=)
c.5565G>A (p.Leu1855=)
c.3075G>A (p.Leu1025=)
n.6990G>A
 ClinVar dbSNP
10g.71793480G=CA1918874552CDH23c.6552G= (p.Leu2184=)
c.6567G= (p.Leu2189=)
c.6747G= (p.Leu2249=)
c.6681G= (p.Leu2227=)
c.6744G= (p.Leu2248=)
c.6741G= (p.Leu2247=)
c.6687G= (p.Leu2229=)
c.6657G= (p.Leu2219=)
c.6612G= (p.Leu2204=)
c.6207G= (p.Leu2069=)
c.5565G= (p.Leu1855=)
c.3075G= (p.Leu1025=)
n.6990G=
10g.71793480_71793481delCA918704179CDH23c.6552_6553del (p.Glu2185ValfsTer3)
c.6567_6568del (p.Glu2190ValfsTer3)
c.6747_6748del (p.Glu2250ValfsTer3)
c.6681_6682del (p.Glu2228ValfsTer3)
c.6744_6745del (p.Glu2249ValfsTer3)
c.6741_6742del (p.Glu2248ValfsTer3)
c.6687_6688del (p.Glu2230ValfsTer3)
c.6657_6658del (p.Glu2220ValfsTer3)
c.6612_6613del (p.Glu2205ValfsTer3)
c.6207_6208del (p.Glu2070ValfsTer3)
c.5565_5566del (p.Glu1856ValfsTer3)
c.3075_3076del (p.Glu1026ValfsTer3)
n.6990_6991del
 dbSNP
10g.71793481G>ACA377155298CDH23c.6553G>A (p.Glu2185Lys)
c.6568G>A (p.Glu2190Lys)
c.6748G>A (p.Glu2250Lys)
c.6682G>A (p.Glu2228Lys)
c.6745G>A (p.Glu2249Lys)
c.6742G>A (p.Glu2248Lys)
c.6688G>A (p.Glu2230Lys)
c.6658G>A (p.Glu2220Lys)
c.6613G>A (p.Glu2205Lys)
c.6208G>A (p.Glu2070Lys)
c.5566G>A (p.Glu1856Lys)
c.3076G>A (p.Glu1026Lys)
n.6991G>A
 COSMIC
10g.71793481G>CCA377155299CDH23c.6553G>C (p.Glu2185Gln)
c.6568G>C (p.Glu2190Gln)
c.6748G>C (p.Glu2250Gln)
c.6682G>C (p.Glu2228Gln)
c.6745G>C (p.Glu2249Gln)
c.6742G>C (p.Glu2248Gln)
c.6688G>C (p.Glu2230Gln)
c.6658G>C (p.Glu2220Gln)
c.6613G>C (p.Glu2205Gln)
c.6208G>C (p.Glu2070Gln)
c.5566G>C (p.Glu1856Gln)
c.3076G>C (p.Glu1026Gln)
n.6991G>C
 dbSNP
10g.71793481G=CA1918874554CDH23c.6553G= (p.Glu2185=)
c.6568G= (p.Glu2190=)
c.6748G= (p.Glu2250=)
c.6682G= (p.Glu2228=)
c.6745G= (p.Glu2249=)
c.6742G= (p.Glu2248=)
c.6688G= (p.Glu2230=)
c.6658G= (p.Glu2220=)
c.6613G= (p.Glu2205=)
c.6208G= (p.Glu2070=)
c.5566G= (p.Glu1856=)
c.3076G= (p.Glu1026=)
n.6991G=
10g.71793481G>TCA377155300CDH23c.6553G>T (p.Glu2185Ter)
c.6568G>T (p.Glu2190Ter)
c.6748G>T (p.Glu2250Ter)
c.6682G>T (p.Glu2228Ter)
c.6745G>T (p.Glu2249Ter)
c.6742G>T (p.Glu2248Ter)
c.6688G>T (p.Glu2230Ter)
c.6658G>T (p.Glu2220Ter)
c.6613G>T (p.Glu2205Ter)
c.6208G>T (p.Glu2070Ter)
c.5566G>T (p.Glu1856Ter)
c.3076G>T (p.Glu1026Ter)
n.6991G>T
10g.71793482A>CCA377155303CDH23c.6554A>C (p.Glu2185Ala)
c.6569A>C (p.Glu2190Ala)
c.6749A>C (p.Glu2250Ala)
c.6683A>C (p.Glu2228Ala)
c.6746A>C (p.Glu2249Ala)
c.6743A>C (p.Glu2248Ala)
c.6689A>C (p.Glu2230Ala)
c.6659A>C (p.Glu2220Ala)
c.6614A>C (p.Glu2205Ala)
c.6209A>C (p.Glu2070Ala)
c.5567A>C (p.Glu1856Ala)
c.3077A>C (p.Glu1026Ala)
n.6992A>C
10g.71793482A>GCA377155301CDH23c.6554A>G (p.Glu2185Gly)
c.6569A>G (p.Glu2190Gly)
c.6749A>G (p.Glu2250Gly)
c.6683A>G (p.Glu2228Gly)
c.6746A>G (p.Glu2249Gly)
c.6743A>G (p.Glu2248Gly)
c.6689A>G (p.Glu2230Gly)
c.6659A>G (p.Glu2220Gly)
c.6614A>G (p.Glu2205Gly)
c.6209A>G (p.Glu2070Gly)
c.5567A>G (p.Glu1856Gly)
c.3077A>G (p.Glu1026Gly)
n.6992A>G
10g.71793482A>TCA377155302CDH23c.6554A>T (p.Glu2185Val)
c.6569A>T (p.Glu2190Val)
c.6749A>T (p.Glu2250Val)
c.6683A>T (p.Glu2228Val)
c.6746A>T (p.Glu2249Val)
c.6743A>T (p.Glu2248Val)
c.6689A>T (p.Glu2230Val)
c.6659A>T (p.Glu2220Val)
c.6614A>T (p.Glu2205Val)
c.6209A>T (p.Glu2070Val)
c.5567A>T (p.Glu1856Val)
c.3077A>T (p.Glu1026Val)
n.6992A>T
10g.71793483G>CCA377155304CDH23c.6555G>C (p.Glu2185Asp)
c.6570G>C (p.Glu2190Asp)
c.6750G>C (p.Glu2250Asp)
c.6684G>C (p.Glu2228Asp)
c.6747G>C (p.Glu2249Asp)
c.6744G>C (p.Glu2248Asp)
c.6690G>C (p.Glu2230Asp)
c.6660G>C (p.Glu2220Asp)
c.6615G>C (p.Glu2205Asp)
c.6210G>C (p.Glu2070Asp)
c.5568G>C (p.Glu1856Asp)
c.3078G>C (p.Glu1026Asp)
n.6993G>C
10g.71793483G=CA1918874555CDH23c.6555G= (p.Glu2185=)
c.6570G= (p.Glu2190=)
c.6750G= (p.Glu2250=)
c.6684G= (p.Glu2228=)
c.6747G= (p.Glu2249=)
c.6744G= (p.Glu2248=)
c.6690G= (p.Glu2230=)
c.6660G= (p.Glu2220=)
c.6615G= (p.Glu2205=)
c.6210G= (p.Glu2070=)
c.5568G= (p.Glu1856=)
c.3078G= (p.Glu1026=)
n.6993G=
10g.71793483G>TCA377155305CDH23c.6555G>T (p.Glu2185Asp)
c.6570G>T (p.Glu2190Asp)
c.6750G>T (p.Glu2250Asp)
c.6684G>T (p.Glu2228Asp)
c.6747G>T (p.Glu2249Asp)
c.6744G>T (p.Glu2248Asp)
c.6690G>T (p.Glu2230Asp)
c.6660G>T (p.Glu2220Asp)
c.6615G>T (p.Glu2205Asp)
c.6210G>T (p.Glu2070Asp)
c.5568G>T (p.Glu1856Asp)
c.3078G>T (p.Glu1026Asp)
n.6993G>T
 ClinVar dbSNP gnomAD v4
10g.71793483_71793484insACA918704180CDH23c.6555_6556insA (p.Ser2186IlefsTer3)
c.6570_6571insA (p.Ser2191IlefsTer3)
c.6750_6751insA (p.Ser2251IlefsTer3)
c.6684_6685insA (p.Ser2229IlefsTer3)
c.6747_6748insA (p.Ser2250IlefsTer3)
c.6744_6745insA (p.Ser2249IlefsTer3)
c.6690_6691insA (p.Ser2231IlefsTer3)
c.6660_6661insA (p.Ser2221IlefsTer3)
c.6615_6616insA (p.Ser2206IlefsTer3)
c.6210_6211insA (p.Ser2071IlefsTer3)
c.5568_5569insA (p.Ser1857IlefsTer3)
c.3078_3079insA (p.Ser1027IlefsTer3)
n.6993_6994insA
 dbSNP
10g.71793483_71793484insGACA470061613CDH23c.6555_6556insGA (p.Ser2186AspfsTer23)
c.6570_6571insGA (p.Ser2191AspfsTer23)
c.6750_6751insGA (p.Ser2251AspfsTer23)
c.6684_6685insGA (p.Ser2229AspfsTer23)
c.6747_6748insGA (p.Ser2250AspfsTer23)
c.6744_6745insGA (p.Ser2249AspfsTer23)
c.6690_6691insGA (p.Ser2231AspfsTer23)
c.6660_6661insGA (p.Ser2221AspfsTer23)
c.6615_6616insGA (p.Ser2206AspfsTer23)
c.6210_6211insGA (p.Ser2071AspfsTer23)
c.5568_5569insGA (p.Ser1857AspfsTer23)
c.3078_3079insGA (p.Ser1027AspfsTer23)
n.6993_6994insGA
10g.71793484T>ACA5546117CDH23c.6556T>A (p.Ser2186Thr)
c.6571T>A (p.Ser2191Thr)
c.6751T>A (p.Ser2251Thr)
c.6685T>A (p.Ser2229Thr)
c.6748T>A (p.Ser2250Thr)
c.6745T>A (p.Ser2249Thr)
c.6691T>A (p.Ser2231Thr)
c.6661T>A (p.Ser2221Thr)
c.6616T>A (p.Ser2206Thr)
c.6211T>A (p.Ser2071Thr)
c.5569T>A (p.Ser1857Thr)
c.3079T>A (p.Ser1027Thr)
n.6994T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71793484T>CCA377155306CDH23c.6556T>C (p.Ser2186Pro)
c.6571T>C (p.Ser2191Pro)
c.6751T>C (p.Ser2251Pro)
c.6685T>C (p.Ser2229Pro)
c.6748T>C (p.Ser2250Pro)
c.6745T>C (p.Ser2249Pro)
c.6691T>C (p.Ser2231Pro)
c.6661T>C (p.Ser2221Pro)
c.6616T>C (p.Ser2206Pro)
c.6211T>C (p.Ser2071Pro)
c.5569T>C (p.Ser1857Pro)
c.3079T>C (p.Ser1027Pro)
n.6994T>C
10g.71793484T>GCA377155307CDH23c.6556T>G (p.Ser2186Ala)
c.6571T>G (p.Ser2191Ala)
c.6751T>G (p.Ser2251Ala)
c.6685T>G (p.Ser2229Ala)
c.6748T>G (p.Ser2250Ala)
c.6745T>G (p.Ser2249Ala)
c.6691T>G (p.Ser2231Ala)
c.6661T>G (p.Ser2221Ala)
c.6616T>G (p.Ser2206Ala)
c.6211T>G (p.Ser2071Ala)
c.5569T>G (p.Ser1857Ala)
c.3079T>G (p.Ser1027Ala)
n.6994T>G
10g.71793484T=CA1918874557CDH23c.6556T= (p.Ser2186=)
c.6571T= (p.Ser2191=)
c.6751T= (p.Ser2251=)
c.6685T= (p.Ser2229=)
c.6748T= (p.Ser2250=)
c.6745T= (p.Ser2249=)
c.6691T= (p.Ser2231=)
c.6661T= (p.Ser2221=)
c.6616T= (p.Ser2206=)
c.6211T= (p.Ser2071=)
c.5569T= (p.Ser1857=)
c.3079T= (p.Ser1027=)
n.6994T=
10g.71793485C>ACA377155308CDH23c.6557C>A (p.Ser2186Ter)
c.6572C>A (p.Ser2191Ter)
c.6752C>A (p.Ser2251Ter)
c.6686C>A (p.Ser2229Ter)
c.6749C>A (p.Ser2250Ter)
c.6746C>A (p.Ser2249Ter)
c.6692C>A (p.Ser2231Ter)
c.6662C>A (p.Ser2221Ter)
c.6617C>A (p.Ser2206Ter)
c.6212C>A (p.Ser2071Ter)
c.5570C>A (p.Ser1857Ter)
c.3080C>A (p.Ser1027Ter)
n.6995C>A
 gnomAD v4
10g.71793485C=CA1918874559CDH23c.6557C= (p.Ser2186=)
c.6572C= (p.Ser2191=)
c.6752C= (p.Ser2251=)
c.6686C= (p.Ser2229=)
c.6749C= (p.Ser2250=)
c.6746C= (p.Ser2249=)
c.6692C= (p.Ser2231=)
c.6662C= (p.Ser2221=)
c.6617C= (p.Ser2206=)
c.6212C= (p.Ser2071=)
c.5570C= (p.Ser1857=)
c.3080C= (p.Ser1027=)
n.6995C=
10g.71793485C>GCA377155309CDH23c.6557C>G (p.Ser2186Trp)
c.6572C>G (p.Ser2191Trp)
c.6752C>G (p.Ser2251Trp)
c.6686C>G (p.Ser2229Trp)
c.6749C>G (p.Ser2250Trp)
c.6746C>G (p.Ser2249Trp)
c.6692C>G (p.Ser2231Trp)
c.6662C>G (p.Ser2221Trp)
c.6617C>G (p.Ser2206Trp)
c.6212C>G (p.Ser2071Trp)
c.5570C>G (p.Ser1857Trp)
c.3080C>G (p.Ser1027Trp)
n.6995C>G
10g.71793485C>TCA5546118CDH23c.6557C>T (p.Ser2186Leu)
c.6572C>T (p.Ser2191Leu)
c.6752C>T (p.Ser2251Leu)
c.6686C>T (p.Ser2229Leu)
c.6749C>T (p.Ser2250Leu)
c.6746C>T (p.Ser2249Leu)
c.6692C>T (p.Ser2231Leu)
c.6662C>T (p.Ser2221Leu)
c.6617C>T (p.Ser2206Leu)
c.6212C>T (p.Ser2071Leu)
c.5570C>T (p.Ser1857Leu)
c.3080C>T (p.Ser1027Leu)
n.6995C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71793485_71793486insAAGAGCATCA918704181CDH23c.6557_6558insAAGAGCAT (p.Ala2187ArgfsTer24)
c.6572_6573insAAGAGCAT (p.Ala2192ArgfsTer24)
c.6752_6753insAAGAGCAT (p.Ala2252ArgfsTer24)
c.6686_6687insAAGAGCAT (p.Ala2230ArgfsTer24)
c.6749_6750insAAGAGCAT (p.Ala2251ArgfsTer24)
c.6746_6747insAAGAGCAT (p.Ala2250ArgfsTer24)
c.6692_6693insAAGAGCAT (p.Ala2232ArgfsTer24)
c.6662_6663insAAGAGCAT (p.Ala2222ArgfsTer24)
c.6617_6618insAAGAGCAT (p.Ala2207ArgfsTer24)
c.6212_6213insAAGAGCAT (p.Ala2072ArgfsTer24)
c.5570_5571insAAGAGCAT (p.Ala1858ArgfsTer24)
c.3080_3081insAAGAGCAT (p.Ala1028ArgfsTer24)
n.6995_6996insAAGAGCAT
 dbSNP
10g.71793486G>ACA5546119CDH23c.6558G>A (p.Ser2186=)
c.6573G>A (p.Ser2191=)
c.6753G>A (p.Ser2251=)
c.6687G>A (p.Ser2229=)
c.6750G>A (p.Ser2250=)
c.6747G>A (p.Ser2249=)
c.6693G>A (p.Ser2231=)
c.6663G>A (p.Ser2221=)
c.6618G>A (p.Ser2206=)
c.6213G>A (p.Ser2071=)
c.5571G>A (p.Ser1857=)
c.3081G>A (p.Ser1027=)
n.6996G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71793486G=CA1918874560CDH23c.6558G= (p.Ser2186=)
c.6573G= (p.Ser2191=)
c.6753G= (p.Ser2251=)
c.6687G= (p.Ser2229=)
c.6750G= (p.Ser2250=)
c.6747G= (p.Ser2249=)
c.6693G= (p.Ser2231=)
c.6663G= (p.Ser2221=)
c.6618G= (p.Ser2206=)
c.6213G= (p.Ser2071=)
c.5571G= (p.Ser1857=)
c.3081G= (p.Ser1027=)
n.6996G=
10g.71793486_71793487insCCCA470061614CDH23c.6558_6559insCC (p.Ala2187ProfsTer22)
c.6573_6574insCC (p.Ala2192ProfsTer22)
c.6753_6754insCC (p.Ala2252ProfsTer22)
c.6687_6688insCC (p.Ala2230ProfsTer22)
c.6750_6751insCC (p.Ala2251ProfsTer22)
c.6747_6748insCC (p.Ala2250ProfsTer22)
c.6693_6694insCC (p.Ala2232ProfsTer22)
c.6663_6664insCC (p.Ala2222ProfsTer22)
c.6618_6619insCC (p.Ala2207ProfsTer22)
c.6213_6214insCC (p.Ala2072ProfsTer22)
c.5571_5572insCC (p.Ala1858ProfsTer22)
c.3081_3082insCC (p.Ala1028ProfsTer22)
n.6996_6997insCC
10g.71793487G>ACA184340CDH23c.6559G>A (p.Ala2187Thr)
c.6574G>A (p.Ala2192Thr)
c.6754G>A (p.Ala2252Thr)
c.6688G>A (p.Ala2230Thr)
c.6751G>A (p.Ala2251Thr)
c.6748G>A (p.Ala2250Thr)
c.6694G>A (p.Ala2232Thr)
c.6664G>A (p.Ala2222Thr)
c.6619G>A (p.Ala2207Thr)
c.6214G>A (p.Ala2072Thr)
c.5572G>A (p.Ala1858Thr)
c.3082G>A (p.Ala1028Thr)
n.6997G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71793487G>CCA377155310CDH23c.6559G>C (p.Ala2187Pro)
c.6574G>C (p.Ala2192Pro)
c.6754G>C (p.Ala2252Pro)
c.6688G>C (p.Ala2230Pro)
c.6751G>C (p.Ala2251Pro)
c.6748G>C (p.Ala2250Pro)
c.6694G>C (p.Ala2232Pro)
c.6664G>C (p.Ala2222Pro)
c.6619G>C (p.Ala2207Pro)
c.6214G>C (p.Ala2072Pro)
c.5572G>C (p.Ala1858Pro)
c.3082G>C (p.Ala1028Pro)
n.6997G>C
10g.71793487G=CA1918874562CDH23c.6559G= (p.Ala2187=)
c.6574G= (p.Ala2192=)
c.6754G= (p.Ala2252=)
c.6688G= (p.Ala2230=)
c.6751G= (p.Ala2251=)
c.6748G= (p.Ala2250=)
c.6694G= (p.Ala2232=)
c.6664G= (p.Ala2222=)
c.6619G= (p.Ala2207=)
c.6214G= (p.Ala2072=)
c.5572G= (p.Ala1858=)
c.3082G= (p.Ala1028=)
n.6997G=
10g.71793487G>TCA377155311CDH23c.6559G>T (p.Ala2187Ser)
c.6574G>T (p.Ala2192Ser)
c.6754G>T (p.Ala2252Ser)
c.6688G>T (p.Ala2230Ser)
c.6751G>T (p.Ala2251Ser)
c.6748G>T (p.Ala2250Ser)
c.6694G>T (p.Ala2232Ser)
c.6664G>T (p.Ala2222Ser)
c.6619G>T (p.Ala2207Ser)
c.6214G>T (p.Ala2072Ser)
c.5572G>T (p.Ala1858Ser)
c.3082G>T (p.Ala1028Ser)
n.6997G>T
10g.71793488C>ACA377155314CDH23c.6560C>A (p.Ala2187Asp)
c.6575C>A (p.Ala2192Asp)
c.6755C>A (p.Ala2252Asp)
c.6689C>A (p.Ala2230Asp)
c.6752C>A (p.Ala2251Asp)
c.6749C>A (p.Ala2250Asp)
c.6695C>A (p.Ala2232Asp)
c.6665C>A (p.Ala2222Asp)
c.6620C>A (p.Ala2207Asp)
c.6215C>A (p.Ala2072Asp)
c.5573C>A (p.Ala1858Asp)
c.3083C>A (p.Ala1028Asp)
n.6998C>A
10g.71793488C>GCA377155313CDH23c.6560C>G (p.Ala2187Gly)
c.6575C>G (p.Ala2192Gly)
c.6755C>G (p.Ala2252Gly)
c.6689C>G (p.Ala2230Gly)
c.6752C>G (p.Ala2251Gly)
c.6749C>G (p.Ala2250Gly)
c.6695C>G (p.Ala2232Gly)
c.6665C>G (p.Ala2222Gly)
c.6620C>G (p.Ala2207Gly)
c.6215C>G (p.Ala2072Gly)
c.5573C>G (p.Ala1858Gly)
c.3083C>G (p.Ala1028Gly)
n.6998C>G
 dbSNP
10g.71793488C>TCA377155312CDH23c.6560C>T (p.Ala2187Val)
c.6575C>T (p.Ala2192Val)
c.6755C>T (p.Ala2252Val)
c.6689C>T (p.Ala2230Val)
c.6752C>T (p.Ala2251Val)
c.6749C>T (p.Ala2250Val)
c.6695C>T (p.Ala2232Val)
c.6665C>T (p.Ala2222Val)
c.6620C>T (p.Ala2207Val)
c.6215C>T (p.Ala2072Val)
c.5573C>T (p.Ala1858Val)
c.3083C>T (p.Ala1028Val)
n.6998C>T
 dbSNP gnomAD v4
10g.71793488_71793489insCTCACCCCA470061617CDH23c.6560_6561insCTCACCC (p.Glu2188SerfsTer3)
c.6575_6576insCTCACCC (p.Glu2193SerfsTer3)
c.6755_6756insCTCACCC (p.Glu2253SerfsTer3)
c.6689_6690insCTCACCC (p.Glu2231SerfsTer3)
c.6752_6753insCTCACCC (p.Glu2252SerfsTer3)
c.6749_6750insCTCACCC (p.Glu2251SerfsTer3)
c.6695_6696insCTCACCC (p.Glu2233SerfsTer3)
c.6665_6666insCTCACCC (p.Glu2223SerfsTer3)
c.6620_6621insCTCACCC (p.Glu2208SerfsTer3)
c.6215_6216insCTCACCC (p.Glu2073SerfsTer3)
c.5573_5574insCTCACCC (p.Glu1859SerfsTer3)
c.3083_3084insCTCACCC (p.Glu1029SerfsTer3)
n.6998_6999insCTCACCC
10g.71793488_71793489insCTCACCCTGAACGCA2505017458CDH23c.6560_6561insCTCACCCTGAACG (p.Glu2188SerfsTer3)
c.6575_6576insCTCACCCTGAACG (p.Glu2193SerfsTer3)
c.6755_6756insCTCACCCTGAACG (p.Glu2253SerfsTer3)
c.6689_6690insCTCACCCTGAACG (p.Glu2231SerfsTer3)
c.6752_6753insCTCACCCTGAACG (p.Glu2252SerfsTer3)
c.6749_6750insCTCACCCTGAACG (p.Glu2251SerfsTer3)
c.6695_6696insCTCACCCTGAACG (p.Glu2233SerfsTer3)
c.6665_6666insCTCACCCTGAACG (p.Glu2223SerfsTer3)
c.6620_6621insCTCACCCTGAACG (p.Glu2208SerfsTer3)
c.6215_6216insCTCACCCTGAACG (p.Glu2073SerfsTer3)
c.5573_5574insCTCACCCTGAACG (p.Glu1859SerfsTer3)
c.3083_3084insCTCACCCTGAACG (p.Glu1029SerfsTer3)
n.6998_6999insCTCACCCTGAACG
10g.71793489T>ACA2609580937CDH23c.6561T>A (p.Ala2187=)
c.6576T>A (p.Ala2192=)
c.6756T>A (p.Ala2252=)
c.6690T>A (p.Ala2230=)
c.6753T>A (p.Ala2251=)
c.6750T>A (p.Ala2250=)
c.6696T>A (p.Ala2232=)
c.6666T>A (p.Ala2222=)
c.6621T>A (p.Ala2207=)
c.6216T>A (p.Ala2072=)
c.5574T>A (p.Ala1858=)
c.3084T>A (p.Ala1028=)
n.6999T>A
 gnomAD v4
10g.71793490G>ACA377155315CDH23c.6562G>A (p.Glu2188Lys)
c.6577G>A (p.Glu2193Lys)
c.6757G>A (p.Glu2253Lys)
c.6691G>A (p.Glu2231Lys)
c.6754G>A (p.Glu2252Lys)
c.6751G>A (p.Glu2251Lys)
c.6697G>A (p.Glu2233Lys)
c.6667G>A (p.Glu2223Lys)
c.6622G>A (p.Glu2208Lys)
c.6217G>A (p.Glu2073Lys)
c.5575G>A (p.Glu1859Lys)
c.3085G>A (p.Glu1029Lys)
n.7000G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71793490G>CCA377155316CDH23c.6562G>C (p.Glu2188Gln)
c.6577G>C (p.Glu2193Gln)
c.6757G>C (p.Glu2253Gln)
c.6691G>C (p.Glu2231Gln)
c.6754G>C (p.Glu2252Gln)
c.6751G>C (p.Glu2251Gln)
c.6697G>C (p.Glu2233Gln)
c.6667G>C (p.Glu2223Gln)
c.6622G>C (p.Glu2208Gln)
c.6217G>C (p.Glu2073Gln)
c.5575G>C (p.Glu1859Gln)
c.3085G>C (p.Glu1029Gln)
n.7000G>C
10g.71793490G=CA1918874565CDH23c.6562G= (p.Glu2188=)
c.6577G= (p.Glu2193=)
c.6757G= (p.Glu2253=)
c.6691G= (p.Glu2231=)
c.6754G= (p.Glu2252=)
c.6751G= (p.Glu2251=)
c.6697G= (p.Glu2233=)
c.6667G= (p.Glu2223=)
c.6622G= (p.Glu2208=)
c.6217G= (p.Glu2073=)
c.5575G= (p.Glu1859=)
c.3085G= (p.Glu1029=)
n.7000G=
10g.71793490G>TCA377155317CDH23c.6562G>T (p.Glu2188Ter)
c.6577G>T (p.Glu2193Ter)
c.6757G>T (p.Glu2253Ter)
c.6691G>T (p.Glu2231Ter)
c.6754G>T (p.Glu2252Ter)
c.6751G>T (p.Glu2251Ter)
c.6697G>T (p.Glu2233Ter)
c.6667G>T (p.Glu2223Ter)
c.6622G>T (p.Glu2208Ter)
c.6217G>T (p.Glu2073Ter)
c.5575G>T (p.Glu1859Ter)
c.3085G>T (p.Glu1029Ter)
n.7000G>T
10g.71793491A>CCA377155318CDH23c.6563A>C (p.Glu2188Ala)
c.6578A>C (p.Glu2193Ala)
c.6758A>C (p.Glu2253Ala)
c.6692A>C (p.Glu2231Ala)
c.6755A>C (p.Glu2252Ala)
c.6752A>C (p.Glu2251Ala)
c.6698A>C (p.Glu2233Ala)
c.6668A>C (p.Glu2223Ala)
c.6623A>C (p.Glu2208Ala)
c.6218A>C (p.Glu2073Ala)
c.5576A>C (p.Glu1859Ala)
c.3086A>C (p.Glu1029Ala)
n.7001A>C
10g.71793491A>GCA377155319CDH23c.6563A>G (p.Glu2188Gly)
c.6578A>G (p.Glu2193Gly)
c.6758A>G (p.Glu2253Gly)
c.6692A>G (p.Glu2231Gly)
c.6755A>G (p.Glu2252Gly)
c.6752A>G (p.Glu2251Gly)
c.6698A>G (p.Glu2233Gly)
c.6668A>G (p.Glu2223Gly)
c.6623A>G (p.Glu2208Gly)
c.6218A>G (p.Glu2073Gly)
c.5576A>G (p.Glu1859Gly)
c.3086A>G (p.Glu1029Gly)
n.7001A>G
10g.71793491A>TCA377155320CDH23c.6563A>T (p.Glu2188Val)
c.6578A>T (p.Glu2193Val)
c.6758A>T (p.Glu2253Val)
c.6692A>T (p.Glu2231Val)
c.6755A>T (p.Glu2252Val)
c.6752A>T (p.Glu2251Val)
c.6698A>T (p.Glu2233Val)
c.6668A>T (p.Glu2223Val)
c.6623A>T (p.Glu2208Val)
c.6218A>T (p.Glu2073Val)
c.5576A>T (p.Glu1859Val)
c.3086A>T (p.Glu1029Val)
n.7001A>T
10g.71793492G>ACA594706133CDH23c.6564G>A (p.Glu2188=)
c.6579G>A (p.Glu2193=)
c.6759G>A (p.Glu2253=)
c.6693G>A (p.Glu2231=)
c.6756G>A (p.Glu2252=)
c.6753G>A (p.Glu2251=)
c.6699G>A (p.Glu2233=)
c.6669G>A (p.Glu2223=)
c.6624G>A (p.Glu2208=)
c.6219G>A (p.Glu2073=)
c.5577G>A (p.Glu1859=)
c.3087G>A (p.Glu1029=)
n.7002G>A
 dbSNP gnomAD v2 gnomAD v4
10g.71793492G>CCA377155321CDH23c.6564G>C (p.Glu2188Asp)
c.6579G>C (p.Glu2193Asp)
c.6759G>C (p.Glu2253Asp)
c.6693G>C (p.Glu2231Asp)
c.6756G>C (p.Glu2252Asp)
c.6753G>C (p.Glu2251Asp)
c.6699G>C (p.Glu2233Asp)
c.6669G>C (p.Glu2223Asp)
c.6624G>C (p.Glu2208Asp)
c.6219G>C (p.Glu2073Asp)
c.5577G>C (p.Glu1859Asp)
c.3087G>C (p.Glu1029Asp)
n.7002G>C
10g.71793492G=CA1918874567CDH23c.6564G= (p.Glu2188=)
c.6579G= (p.Glu2193=)
c.6759G= (p.Glu2253=)
c.6693G= (p.Glu2231=)
c.6756G= (p.Glu2252=)
c.6753G= (p.Glu2251=)
c.6699G= (p.Glu2233=)
c.6669G= (p.Glu2223=)
c.6624G= (p.Glu2208=)
c.6219G= (p.Glu2073=)
c.5577G= (p.Glu1859=)
c.3087G= (p.Glu1029=)
n.7002G=
10g.71793492G>TCA5546120CDH23c.6564G>T (p.Glu2188Asp)
c.6579G>T (p.Glu2193Asp)
c.6759G>T (p.Glu2253Asp)
c.6693G>T (p.Glu2231Asp)
c.6756G>T (p.Glu2252Asp)
c.6753G>T (p.Glu2251Asp)
c.6699G>T (p.Glu2233Asp)
c.6669G>T (p.Glu2223Asp)
c.6624G>T (p.Glu2208Asp)
c.6219G>T (p.Glu2073Asp)
c.5577G>T (p.Glu1859Asp)
c.3087G>T (p.Glu1029Asp)
n.7002G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71793493C>ACA377155322CDH23c.6565C>A (p.Pro2189Thr)
c.6580C>A (p.Pro2194Thr)
c.6760C>A (p.Pro2254Thr)
c.6694C>A (p.Pro2232Thr)
c.6757C>A (p.Pro2253Thr)
c.6754C>A (p.Pro2252Thr)
c.6700C>A (p.Pro2234Thr)
c.6670C>A (p.Pro2224Thr)
c.6625C>A (p.Pro2209Thr)
c.6220C>A (p.Pro2074Thr)
c.5578C>A (p.Pro1860Thr)
c.3088C>A (p.Pro1030Thr)
n.7003C>A
 gnomAD v4
10g.71793493C=CA1918874570CDH23c.6565C= (p.Pro2189=)
c.6580C= (p.Pro2194=)
c.6760C= (p.Pro2254=)
c.6694C= (p.Pro2232=)
c.6757C= (p.Pro2253=)
c.6754C= (p.Pro2252=)
c.6700C= (p.Pro2234=)
c.6670C= (p.Pro2224=)
c.6625C= (p.Pro2209=)
c.6220C= (p.Pro2074=)
c.5578C= (p.Pro1860=)
c.3088C= (p.Pro1030=)
n.7003C=
10g.71793493C>GCA377155323CDH23c.6565C>G (p.Pro2189Ala)
c.6580C>G (p.Pro2194Ala)
c.6760C>G (p.Pro2254Ala)
c.6694C>G (p.Pro2232Ala)
c.6757C>G (p.Pro2253Ala)
c.6754C>G (p.Pro2252Ala)
c.6700C>G (p.Pro2234Ala)
c.6670C>G (p.Pro2224Ala)
c.6625C>G (p.Pro2209Ala)
c.6220C>G (p.Pro2074Ala)
c.5578C>G (p.Pro1860Ala)
c.3088C>G (p.Pro1030Ala)
n.7003C>G
10g.71793493C>TCA209466324CDH23c.6565C>T (p.Pro2189Ser)
c.6580C>T (p.Pro2194Ser)
c.6760C>T (p.Pro2254Ser)
c.6694C>T (p.Pro2232Ser)
c.6757C>T (p.Pro2253Ser)
c.6754C>T (p.Pro2252Ser)
c.6700C>T (p.Pro2234Ser)
c.6670C>T (p.Pro2224Ser)
c.6625C>T (p.Pro2209Ser)
c.6220C>T (p.Pro2074Ser)
c.5578C>T (p.Pro1860Ser)
c.3088C>T (p.Pro1030Ser)
n.7003C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.71793494C>ACA377155324CDH23c.6566C>A (p.Pro2189Gln)
c.6581C>A (p.Pro2194Gln)
c.6761C>A (p.Pro2254Gln)
c.6695C>A (p.Pro2232Gln)
c.6758C>A (p.Pro2253Gln)
c.6755C>A (p.Pro2252Gln)
c.6701C>A (p.Pro2234Gln)
c.6671C>A (p.Pro2224Gln)
c.6626C>A (p.Pro2209Gln)
c.6221C>A (p.Pro2074Gln)
c.5579C>A (p.Pro1860Gln)
c.3089C>A (p.Pro1030Gln)
n.7004C>A
10g.71793494C>GCA377155325CDH23c.6566C>G (p.Pro2189Arg)
c.6581C>G (p.Pro2194Arg)
c.6761C>G (p.Pro2254Arg)
c.6695C>G (p.Pro2232Arg)
c.6758C>G (p.Pro2253Arg)
c.6755C>G (p.Pro2252Arg)
c.6701C>G (p.Pro2234Arg)
c.6671C>G (p.Pro2224Arg)
c.6626C>G (p.Pro2209Arg)
c.6221C>G (p.Pro2074Arg)
c.5579C>G (p.Pro1860Arg)
c.3089C>G (p.Pro1030Arg)
n.7004C>G
10g.71793494C>TCA377155326CDH23c.6566C>T (p.Pro2189Leu)
c.6581C>T (p.Pro2194Leu)
c.6761C>T (p.Pro2254Leu)
c.6695C>T (p.Pro2232Leu)
c.6758C>T (p.Pro2253Leu)
c.6755C>T (p.Pro2252Leu)
c.6701C>T (p.Pro2234Leu)
c.6671C>T (p.Pro2224Leu)
c.6626C>T (p.Pro2209Leu)
c.6221C>T (p.Pro2074Leu)
c.5579C>T (p.Pro1860Leu)
c.3089C>T (p.Pro1030Leu)
n.7004C>T
10g.71793495A>TCA2722286503CDH23c.6567A>T (p.Pro2189=)
c.6582A>T (p.Pro2194=)
c.6762A>T (p.Pro2254=)
c.6696A>T (p.Pro2232=)
c.6759A>T (p.Pro2253=)
c.6756A>T (p.Pro2252=)
c.6702A>T (p.Pro2234=)
c.6672A>T (p.Pro2224=)
c.6627A>T (p.Pro2209=)
c.6222A>T (p.Pro2074=)
c.5580A>T (p.Pro1860=)
c.3090A>T (p.Pro1030=)
n.7005A>T
 dbSNP
10g.71793496G>ACA377155327CDH23c.6568G>A (p.Gly2190Ser)
c.6583G>A (p.Gly2195Ser)
c.6763G>A (p.Gly2255Ser)
c.6697G>A (p.Gly2233Ser)
c.6760G>A (p.Gly2254Ser)
c.6757G>A (p.Gly2253Ser)
c.6703G>A (p.Gly2235Ser)
c.6673G>A (p.Gly2225Ser)
c.6628G>A (p.Gly2210Ser)
c.6223G>A (p.Gly2075Ser)
c.5581G>A (p.Gly1861Ser)
c.3091G>A (p.Gly1031Ser)
n.7006G>A
10g.71793496G>CCA377155329CDH23c.6568G>C (p.Gly2190Arg)
c.6583G>C (p.Gly2195Arg)
c.6763G>C (p.Gly2255Arg)
c.6697G>C (p.Gly2233Arg)
c.6760G>C (p.Gly2254Arg)
c.6757G>C (p.Gly2253Arg)
c.6703G>C (p.Gly2235Arg)
c.6673G>C (p.Gly2225Arg)
c.6628G>C (p.Gly2210Arg)
c.6223G>C (p.Gly2075Arg)
c.5581G>C (p.Gly1861Arg)
c.3091G>C (p.Gly1031Arg)
n.7006G>C
 dbSNP
10g.71793496G>TCA377155328CDH23c.6568G>T (p.Gly2190Cys)
c.6583G>T (p.Gly2195Cys)
c.6763G>T (p.Gly2255Cys)
c.6697G>T (p.Gly2233Cys)
c.6760G>T (p.Gly2254Cys)
c.6757G>T (p.Gly2253Cys)
c.6703G>T (p.Gly2235Cys)
c.6673G>T (p.Gly2225Cys)
c.6628G>T (p.Gly2210Cys)
c.6223G>T (p.Gly2075Cys)
c.5581G>T (p.Gly1861Cys)
c.3091G>T (p.Gly1031Cys)
n.7006G>T
10g.71793499_71793521delCA2580081871CDH23c.6571_6593del (p.Thr2191HisfsTer2)
c.6586_6608del (p.Thr2196HisfsTer2)
c.6766_6788del (p.Thr2256HisfsTer2)
c.6700_6722del (p.Thr2234HisfsTer2)
c.6763_6785del (p.Thr2255HisfsTer2)
c.6760_6782del (p.Thr2254HisfsTer2)
c.6706_6728del (p.Thr2236HisfsTer2)
c.6676_6698del (p.Thr2226HisfsTer2)
c.6631_6653del (p.Thr2211HisfsTer2)
c.6226_6248del (p.Thr2076HisfsTer2)
c.5584_5606del (p.Thr1862HisfsTer2)
c.3094_3116del (p.Thr1032HisfsTer2)
n.7009_7031del
 ClinVar
10g.71793497G>ACA5546121CDH23c.6569G>A (p.Gly2190Asp)
c.6584G>A (p.Gly2195Asp)
c.6764G>A (p.Gly2255Asp)
c.6698G>A (p.Gly2233Asp)
c.6761G>A (p.Gly2254Asp)
c.6758G>A (p.Gly2253Asp)
c.6704G>A (p.Gly2235Asp)
c.6674G>A (p.Gly2225Asp)
c.6629G>A (p.Gly2210Asp)
c.6224G>A (p.Gly2075Asp)
c.5582G>A (p.Gly1861Asp)
c.3092G>A (p.Gly1031Asp)
n.7007G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71793497G>CCA377155330CDH23c.6569G>C (p.Gly2190Ala)
c.6584G>C (p.Gly2195Ala)
c.6764G>C (p.Gly2255Ala)
c.6698G>C (p.Gly2233Ala)
c.6761G>C (p.Gly2254Ala)
c.6758G>C (p.Gly2253Ala)
c.6704G>C (p.Gly2235Ala)
c.6674G>C (p.Gly2225Ala)
c.6629G>C (p.Gly2210Ala)
c.6224G>C (p.Gly2075Ala)
c.5582G>C (p.Gly1861Ala)
c.3092G>C (p.Gly1031Ala)
n.7007G>C
10g.71793497G=CA1918874572CDH23c.6569G= (p.Gly2190=)
c.6584G= (p.Gly2195=)
c.6764G= (p.Gly2255=)
c.6698G= (p.Gly2233=)
c.6761G= (p.Gly2254=)
c.6758G= (p.Gly2253=)
c.6704G= (p.Gly2235=)
c.6674G= (p.Gly2225=)
c.6629G= (p.Gly2210=)
c.6224G= (p.Gly2075=)
c.5582G= (p.Gly1861=)
c.3092G= (p.Gly1031=)
n.7007G=
10g.71793497G>TCA377155331CDH23c.6569G>T (p.Gly2190Val)
c.6584G>T (p.Gly2195Val)
c.6764G>T (p.Gly2255Val)
c.6698G>T (p.Gly2233Val)
c.6761G>T (p.Gly2254Val)
c.6758G>T (p.Gly2253Val)
c.6704G>T (p.Gly2235Val)
c.6674G>T (p.Gly2225Val)
c.6629G>T (p.Gly2210Val)
c.6224G>T (p.Gly2075Val)
c.5582G>T (p.Gly1861Val)
c.3092G>T (p.Gly1031Val)
n.7007G>T
 gnomAD v4
10g.71793498C>ACA2573145272CDH23c.6570C>A (p.Gly2190=)
c.6585C>A (p.Gly2195=)
c.6765C>A (p.Gly2255=)
c.6699C>A (p.Gly2233=)
c.6762C>A (p.Gly2254=)
c.6759C>A (p.Gly2253=)
c.6705C>A (p.Gly2235=)
c.6675C>A (p.Gly2225=)
c.6630C>A (p.Gly2210=)
c.6225C>A (p.Gly2075=)
c.5583C>A (p.Gly1861=)
c.3093C>A (p.Gly1031=)
n.7008C>A
 ClinVar dbSNP
10g.71793499A>CCA377155332CDH23c.6571A>C (p.Thr2191Pro)
c.6586A>C (p.Thr2196Pro)
c.6766A>C (p.Thr2256Pro)
c.6700A>C (p.Thr2234Pro)
c.6763A>C (p.Thr2255Pro)
c.6760A>C (p.Thr2254Pro)
c.6706A>C (p.Thr2236Pro)
c.6676A>C (p.Thr2226Pro)
c.6631A>C (p.Thr2211Pro)
c.6226A>C (p.Thr2076Pro)
c.5584A>C (p.Thr1862Pro)
c.3094A>C (p.Thr1032Pro)
n.7009A>C
10g.71793499A>GCA377155333CDH23c.6571A>G (p.Thr2191Ala)
c.6586A>G (p.Thr2196Ala)
c.6766A>G (p.Thr2256Ala)
c.6700A>G (p.Thr2234Ala)
c.6763A>G (p.Thr2255Ala)
c.6760A>G (p.Thr2254Ala)
c.6706A>G (p.Thr2236Ala)
c.6676A>G (p.Thr2226Ala)
c.6631A>G (p.Thr2211Ala)
c.6226A>G (p.Thr2076Ala)
c.5584A>G (p.Thr1862Ala)
c.3094A>G (p.Thr1032Ala)
n.7009A>G
10g.71793499A>TCA377155334CDH23c.6571A>T (p.Thr2191Ser)
c.6586A>T (p.Thr2196Ser)
c.6766A>T (p.Thr2256Ser)
c.6700A>T (p.Thr2234Ser)
c.6763A>T (p.Thr2255Ser)
c.6760A>T (p.Thr2254Ser)
c.6706A>T (p.Thr2236Ser)
c.6676A>T (p.Thr2226Ser)
c.6631A>T (p.Thr2211Ser)
c.6226A>T (p.Thr2076Ser)
c.5584A>T (p.Thr1862Ser)
c.3094A>T (p.Thr1032Ser)
n.7009A>T
10g.71793500C>ACA377155335CDH23c.6572C>A (p.Thr2191Asn)
c.6587C>A (p.Thr2196Asn)
c.6767C>A (p.Thr2256Asn)
c.6701C>A (p.Thr2234Asn)
c.6764C>A (p.Thr2255Asn)
c.6761C>A (p.Thr2254Asn)
c.6707C>A (p.Thr2236Asn)
c.6677C>A (p.Thr2226Asn)
c.6632C>A (p.Thr2211Asn)
c.6227C>A (p.Thr2076Asn)
c.5585C>A (p.Thr1862Asn)
c.3095C>A (p.Thr1032Asn)
n.7010C>A
 ClinVar
10g.71793500C>GCA377155336CDH23c.6572C>G (p.Thr2191Ser)
c.6587C>G (p.Thr2196Ser)
c.6767C>G (p.Thr2256Ser)
c.6701C>G (p.Thr2234Ser)
c.6764C>G (p.Thr2255Ser)
c.6761C>G (p.Thr2254Ser)
c.6707C>G (p.Thr2236Ser)
c.6677C>G (p.Thr2226Ser)
c.6632C>G (p.Thr2211Ser)
c.6227C>G (p.Thr2076Ser)
c.5585C>G (p.Thr1862Ser)
c.3095C>G (p.Thr1032Ser)
n.7010C>G
10g.71793500C>TCA377155337CDH23c.6572C>T (p.Thr2191Ile)
c.6587C>T (p.Thr2196Ile)
c.6767C>T (p.Thr2256Ile)
c.6701C>T (p.Thr2234Ile)
c.6764C>T (p.Thr2255Ile)
c.6761C>T (p.Thr2254Ile)
c.6707C>T (p.Thr2236Ile)
c.6677C>T (p.Thr2226Ile)
c.6632C>T (p.Thr2211Ile)
c.6227C>T (p.Thr2076Ile)
c.5585C>T (p.Thr1862Ile)
c.3095C>T (p.Thr1032Ile)
n.7010C>T
 dbSNP
10g.71793501T>ACA2573145273CDH23c.6573T>A (p.Thr2191=)
c.6588T>A (p.Thr2196=)
c.6768T>A (p.Thr2256=)
c.6702T>A (p.Thr2234=)
c.6765T>A (p.Thr2255=)
c.6762T>A (p.Thr2254=)
c.6708T>A (p.Thr2236=)
c.6678T>A (p.Thr2226=)
c.6633T>A (p.Thr2211=)
c.6228T>A (p.Thr2076=)
c.5586T>A (p.Thr1862=)
c.3096T>A (p.Thr1032=)
n.7011T>A
 ClinVar dbSNP
10g.71793501T>CCA594706134CDH23c.6573T>C (p.Thr2191=)
c.6588T>C (p.Thr2196=)
c.6768T>C (p.Thr2256=)
c.6702T>C (p.Thr2234=)
c.6765T>C (p.Thr2255=)
c.6762T>C (p.Thr2254=)
c.6708T>C (p.Thr2236=)
c.6678T>C (p.Thr2226=)
c.6633T>C (p.Thr2211=)
c.6228T>C (p.Thr2076=)
c.5586T>C (p.Thr1862=)
c.3096T>C (p.Thr1032=)
n.7011T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71793501T=CA1918874574CDH23c.6573T= (p.Thr2191=)
c.6588T= (p.Thr2196=)
c.6768T= (p.Thr2256=)
c.6702T= (p.Thr2234=)
c.6765T= (p.Thr2255=)
c.6762T= (p.Thr2254=)
c.6708T= (p.Thr2236=)
c.6678T= (p.Thr2226=)
c.6633T= (p.Thr2211=)
c.6228T= (p.Thr2076=)
c.5586T= (p.Thr1862=)
c.3096T= (p.Thr1032=)
n.7011T=
10g.71793502G>ACA377155338CDH23c.6574G>A (p.Val2192Ile)
c.6589G>A (p.Val2197Ile)
c.6769G>A (p.Val2257Ile)
c.6703G>A (p.Val2235Ile)
c.6766G>A (p.Val2256Ile)
c.6763G>A (p.Val2255Ile)
c.6709G>A (p.Val2237Ile)
c.6679G>A (p.Val2227Ile)
c.6634G>A (p.Val2212Ile)
c.6229G>A (p.Val2077Ile)
c.5587G>A (p.Val1863Ile)
c.3097G>A (p.Val1033Ile)
n.7012G>A
 gnomAD v4
10g.71793502G>CCA377155339CDH23c.6574G>C (p.Val2192Leu)
c.6589G>C (p.Val2197Leu)
c.6769G>C (p.Val2257Leu)
c.6703G>C (p.Val2235Leu)
c.6766G>C (p.Val2256Leu)
c.6763G>C (p.Val2255Leu)
c.6709G>C (p.Val2237Leu)
c.6679G>C (p.Val2227Leu)
c.6634G>C (p.Val2212Leu)
c.6229G>C (p.Val2077Leu)
c.5587G>C (p.Val1863Leu)
c.3097G>C (p.Val1033Leu)
n.7012G>C
 gnomAD v4
10g.71793502G>TCA377155340CDH23c.6574G>T (p.Val2192Phe)
c.6589G>T (p.Val2197Phe)
c.6769G>T (p.Val2257Phe)
c.6703G>T (p.Val2235Phe)
c.6766G>T (p.Val2256Phe)
c.6763G>T (p.Val2255Phe)
c.6709G>T (p.Val2237Phe)
c.6679G>T (p.Val2227Phe)
c.6634G>T (p.Val2212Phe)
c.6229G>T (p.Val2077Phe)
c.5587G>T (p.Val1863Phe)
c.3097G>T (p.Val1033Phe)
n.7012G>T
10g.71793503T>ACA377155343CDH23c.6575T>A (p.Val2192Asp)
c.6590T>A (p.Val2197Asp)
c.6770T>A (p.Val2257Asp)
c.6704T>A (p.Val2235Asp)
c.6767T>A (p.Val2256Asp)
c.6764T>A (p.Val2255Asp)
c.6710T>A (p.Val2237Asp)
c.6680T>A (p.Val2227Asp)
c.6635T>A (p.Val2212Asp)
c.6230T>A (p.Val2077Asp)
c.5588T>A (p.Val1863Asp)
c.3098T>A (p.Val1033Asp)
n.7013T>A
10g.71793503T>CCA377155342CDH23c.6575T>C (p.Val2192Ala)
c.6590T>C (p.Val2197Ala)
c.6770T>C (p.Val2257Ala)
c.6704T>C (p.Val2235Ala)
c.6767T>C (p.Val2256Ala)
c.6764T>C (p.Val2255Ala)
c.6710T>C (p.Val2237Ala)
c.6680T>C (p.Val2227Ala)
c.6635T>C (p.Val2212Ala)
c.6230T>C (p.Val2077Ala)
c.5588T>C (p.Val1863Ala)
c.3098T>C (p.Val1033Ala)
n.7013T>C
 ClinVar gnomAD v4
10g.71793503T>GCA377155341CDH23c.6575T>G (p.Val2192Gly)
c.6590T>G (p.Val2197Gly)
c.6770T>G (p.Val2257Gly)
c.6704T>G (p.Val2235Gly)
c.6767T>G (p.Val2256Gly)
c.6764T>G (p.Val2255Gly)
c.6710T>G (p.Val2237Gly)
c.6680T>G (p.Val2227Gly)
c.6635T>G (p.Val2212Gly)
c.6230T>G (p.Val2077Gly)
c.5588T>G (p.Val1863Gly)
c.3098T>G (p.Val1033Gly)
n.7013T>G
10g.71793505A=CA1918874575CDH23c.6577A= (p.Ile2193=)
c.6592A= (p.Ile2198=)
c.6772A= (p.Ile2258=)
c.6706A= (p.Ile2236=)
c.6769A= (p.Ile2257=)
c.6766A= (p.Ile2256=)
c.6712A= (p.Ile2238=)
c.6682A= (p.Ile2228=)
c.6637A= (p.Ile2213=)
c.6232A= (p.Ile2078=)
c.5590A= (p.Ile1864=)
c.3100A= (p.Ile1034=)
n.7015A=
10g.71793505A>CCA377155345CDH23c.6577A>C (p.Ile2193Leu)
c.6592A>C (p.Ile2198Leu)
c.6772A>C (p.Ile2258Leu)
c.6706A>C (p.Ile2236Leu)
c.6769A>C (p.Ile2257Leu)
c.6766A>C (p.Ile2256Leu)
c.6712A>C (p.Ile2238Leu)
c.6682A>C (p.Ile2228Leu)
c.6637A>C (p.Ile2213Leu)
c.6232A>C (p.Ile2078Leu)
c.5590A>C (p.Ile1864Leu)
c.3100A>C (p.Ile1034Leu)
n.7015A>C
10g.71793505A>GCA377155344CDH23c.6577A>G (p.Ile2193Val)
c.6592A>G (p.Ile2198Val)
c.6772A>G (p.Ile2258Val)
c.6706A>G (p.Ile2236Val)
c.6769A>G (p.Ile2257Val)
c.6766A>G (p.Ile2256Val)
c.6712A>G (p.Ile2238Val)
c.6682A>G (p.Ile2228Val)
c.6637A>G (p.Ile2213Val)
c.6232A>G (p.Ile2078Val)
c.5590A>G (p.Ile1864Val)
c.3100A>G (p.Ile1034Val)
n.7015A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.71793505A>TCA377155346CDH23c.6577A>T (p.Ile2193Phe)
c.6592A>T (p.Ile2198Phe)
c.6772A>T (p.Ile2258Phe)
c.6706A>T (p.Ile2236Phe)
c.6769A>T (p.Ile2257Phe)
c.6766A>T (p.Ile2256Phe)
c.6712A>T (p.Ile2238Phe)
c.6682A>T (p.Ile2228Phe)
c.6637A>T (p.Ile2213Phe)
c.6232A>T (p.Ile2078Phe)
c.5590A>T (p.Ile1864Phe)
c.3100A>T (p.Ile1034Phe)
n.7015A>T
10g.71793506T>ACA377155347CDH23c.6578T>A (p.Ile2193Asn)
c.6593T>A (p.Ile2198Asn)
c.6773T>A (p.Ile2258Asn)
c.6707T>A (p.Ile2236Asn)
c.6770T>A (p.Ile2257Asn)
c.6767T>A (p.Ile2256Asn)
c.6713T>A (p.Ile2238Asn)
c.6683T>A (p.Ile2228Asn)
c.6638T>A (p.Ile2213Asn)
c.6233T>A (p.Ile2078Asn)
c.5591T>A (p.Ile1864Asn)
c.3101T>A (p.Ile1034Asn)
n.7016T>A
10g.71793506T>CCA377155349CDH23c.6578T>C (p.Ile2193Thr)
c.6593T>C (p.Ile2198Thr)
c.6773T>C (p.Ile2258Thr)
c.6707T>C (p.Ile2236Thr)
c.6770T>C (p.Ile2257Thr)
c.6767T>C (p.Ile2256Thr)
c.6713T>C (p.Ile2238Thr)
c.6683T>C (p.Ile2228Thr)
c.6638T>C (p.Ile2213Thr)
c.6233T>C (p.Ile2078Thr)
c.5591T>C (p.Ile1864Thr)
c.3101T>C (p.Ile1034Thr)
n.7016T>C
 dbSNP
10g.71793506T>GCA377155348CDH23c.6578T>G (p.Ile2193Ser)
c.6593T>G (p.Ile2198Ser)
c.6773T>G (p.Ile2258Ser)
c.6707T>G (p.Ile2236Ser)
c.6770T>G (p.Ile2257Ser)
c.6767T>G (p.Ile2256Ser)
c.6713T>G (p.Ile2238Ser)
c.6683T>G (p.Ile2228Ser)
c.6638T>G (p.Ile2213Ser)
c.6233T>G (p.Ile2078Ser)
c.5591T>G (p.Ile1864Ser)
c.3101T>G (p.Ile1034Ser)
n.7016T>G
10g.71793506T=CA1918874577CDH23c.6578T= (p.Ile2193=)
c.6593T= (p.Ile2198=)
c.6773T= (p.Ile2258=)
c.6707T= (p.Ile2236=)
c.6770T= (p.Ile2257=)
c.6767T= (p.Ile2256=)
c.6713T= (p.Ile2238=)
c.6683T= (p.Ile2228=)
c.6638T= (p.Ile2213=)
c.6233T= (p.Ile2078=)
c.5591T= (p.Ile1864=)
c.3101T= (p.Ile1034=)
n.7016T=
10g.71793507T>GCA377155350CDH23c.6579T>G (p.Ile2193Met)
c.6594T>G (p.Ile2198Met)
c.6774T>G (p.Ile2258Met)
c.6708T>G (p.Ile2236Met)
c.6771T>G (p.Ile2257Met)
c.6768T>G (p.Ile2256Met)
c.6714T>G (p.Ile2238Met)
c.6684T>G (p.Ile2228Met)
c.6639T>G (p.Ile2213Met)
c.6234T>G (p.Ile2078Met)
c.5592T>G (p.Ile1864Met)
c.3102T>G (p.Ile1034Met)
n.7017T>G
10g.71793508G>ACA377155352CDH23c.6580G>A (p.Ala2194Thr)
c.6595G>A (p.Ala2199Thr)
c.6775G>A (p.Ala2259Thr)
c.6709G>A (p.Ala2237Thr)
c.6772G>A (p.Ala2258Thr)
c.6769G>A (p.Ala2257Thr)
c.6715G>A (p.Ala2239Thr)
c.6685G>A (p.Ala2229Thr)
c.6640G>A (p.Ala2214Thr)
c.6235G>A (p.Ala2079Thr)
c.5593G>A (p.Ala1865Thr)
c.3103G>A (p.Ala1035Thr)
n.7018G>A
 dbSNP
10g.71793508G>CCA377155351CDH23c.6580G>C (p.Ala2194Pro)
c.6595G>C (p.Ala2199Pro)
c.6775G>C (p.Ala2259Pro)
c.6709G>C (p.Ala2237Pro)
c.6772G>C (p.Ala2258Pro)
c.6769G>C (p.Ala2257Pro)
c.6715G>C (p.Ala2239Pro)
c.6685G>C (p.Ala2229Pro)
c.6640G>C (p.Ala2214Pro)
c.6235G>C (p.Ala2079Pro)
c.5593G>C (p.Ala1865Pro)
c.3103G>C (p.Ala1035Pro)
n.7018G>C
10g.71793508G>TCA377155353CDH23c.6580G>T (p.Ala2194Ser)
c.6595G>T (p.Ala2199Ser)
c.6775G>T (p.Ala2259Ser)
c.6709G>T (p.Ala2237Ser)
c.6772G>T (p.Ala2258Ser)
c.6769G>T (p.Ala2257Ser)
c.6715G>T (p.Ala2239Ser)
c.6685G>T (p.Ala2229Ser)
c.6640G>T (p.Ala2214Ser)
c.6235G>T (p.Ala2079Ser)
c.5593G>T (p.Ala1865Ser)
c.3103G>T (p.Ala1035Ser)
n.7018G>T
10g.71793509C>ACA377155354CDH23c.6581C>A (p.Ala2194Asp)
c.6596C>A (p.Ala2199Asp)
c.6776C>A (p.Ala2259Asp)
c.6710C>A (p.Ala2237Asp)
c.6773C>A (p.Ala2258Asp)
c.6770C>A (p.Ala2257Asp)
c.6716C>A (p.Ala2239Asp)
c.6686C>A (p.Ala2229Asp)
c.6641C>A (p.Ala2214Asp)
c.6236C>A (p.Ala2079Asp)
c.5594C>A (p.Ala1865Asp)
c.3104C>A (p.Ala1035Asp)
n.7019C>A
 dbSNP
10g.71793509C=CA1918874579CDH23c.6581C= (p.Ala2194=)
c.6596C= (p.Ala2199=)
c.6776C= (p.Ala2259=)
c.6710C= (p.Ala2237=)
c.6773C= (p.Ala2258=)
c.6770C= (p.Ala2257=)
c.6716C= (p.Ala2239=)
c.6686C= (p.Ala2229=)
c.6641C= (p.Ala2214=)
c.6236C= (p.Ala2079=)
c.5594C= (p.Ala1865=)
c.3104C= (p.Ala1035=)
n.7019C=
10g.71793509C>GCA377155356CDH23c.6581C>G (p.Ala2194Gly)
c.6596C>G (p.Ala2199Gly)
c.6776C>G (p.Ala2259Gly)
c.6710C>G (p.Ala2237Gly)
c.6773C>G (p.Ala2258Gly)
c.6770C>G (p.Ala2257Gly)
c.6716C>G (p.Ala2239Gly)
c.6686C>G (p.Ala2229Gly)
c.6641C>G (p.Ala2214Gly)
c.6236C>G (p.Ala2079Gly)
c.5594C>G (p.Ala1865Gly)
c.3104C>G (p.Ala1035Gly)
n.7019C>G
10g.71793509C>TCA377155355CDH23c.6581C>T (p.Ala2194Val)
c.6596C>T (p.Ala2199Val)
c.6776C>T (p.Ala2259Val)
c.6710C>T (p.Ala2237Val)
c.6773C>T (p.Ala2258Val)
c.6770C>T (p.Ala2257Val)
c.6716C>T (p.Ala2239Val)
c.6686C>T (p.Ala2229Val)
c.6641C>T (p.Ala2214Val)
c.6236C>T (p.Ala2079Val)
c.5594C>T (p.Ala1865Val)
c.3104C>T (p.Ala1035Val)
n.7019C>T
 dbSNP
10g.71793510C>ACA5546122CDH23c.6582C>A (p.Ala2194=)
c.6597C>A (p.Ala2199=)
c.6777C>A (p.Ala2259=)
c.6711C>A (p.Ala2237=)
c.6774C>A (p.Ala2258=)
c.6771C>A (p.Ala2257=)
c.6717C>A (p.Ala2239=)
c.6687C>A (p.Ala2229=)
c.6642C>A (p.Ala2214=)
c.6237C>A (p.Ala2079=)
c.5595C>A (p.Ala1865=)
c.3105C>A (p.Ala1035=)
n.7020C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71793510C=CA1918874580CDH23c.6582C= (p.Ala2194=)
c.6597C= (p.Ala2199=)
c.6777C= (p.Ala2259=)
c.6711C= (p.Ala2237=)
c.6774C= (p.Ala2258=)
c.6771C= (p.Ala2257=)
c.6717C= (p.Ala2239=)
c.6687C= (p.Ala2229=)
c.6642C= (p.Ala2214=)
c.6237C= (p.Ala2079=)
c.5595C= (p.Ala1865=)
c.3105C= (p.Ala1035=)
n.7020C=
10g.71793510C>TCA5546123CDH23c.6582C>T (p.Ala2194=)
c.6597C>T (p.Ala2199=)
c.6777C>T (p.Ala2259=)
c.6711C>T (p.Ala2237=)
c.6774C>T (p.Ala2258=)
c.6771C>T (p.Ala2257=)
c.6717C>T (p.Ala2239=)
c.6687C>T (p.Ala2229=)
c.6642C>T (p.Ala2214=)
c.6237C>T (p.Ala2079=)
c.5595C>T (p.Ala1865=)
c.3105C>T (p.Ala1035=)
n.7020C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71793511A=CA1918874583CDH23c.6583A= (p.Asn2195=)
c.6598A= (p.Asn2200=)
c.6778A= (p.Asn2260=)
c.6712A= (p.Asn2238=)
c.6775A= (p.Asn2259=)
c.6772A= (p.Asn2258=)
c.6718A= (p.Asn2240=)
c.6688A= (p.Asn2230=)
c.6643A= (p.Asn2215=)
c.6238A= (p.Asn2080=)
c.5596A= (p.Asn1866=)
c.3106A= (p.Asn1036=)
n.7021A=
10g.71793511A>CCA377155357CDH23c.6583A>C (p.Asn2195His)
c.6598A>C (p.Asn2200His)
c.6778A>C (p.Asn2260His)
c.6712A>C (p.Asn2238His)
c.6775A>C (p.Asn2259His)
c.6772A>C (p.Asn2258His)
c.6718A>C (p.Asn2240His)
c.6688A>C (p.Asn2230His)
c.6643A>C (p.Asn2215His)
c.6238A>C (p.Asn2080His)
c.5596A>C (p.Asn1866His)
c.3106A>C (p.Asn1036His)
n.7021A>C
10g.71793511A>GCA377155358CDH23c.6583A>G (p.Asn2195Asp)
c.6598A>G (p.Asn2200Asp)
c.6778A>G (p.Asn2260Asp)
c.6712A>G (p.Asn2238Asp)
c.6775A>G (p.Asn2259Asp)
c.6772A>G (p.Asn2258Asp)
c.6718A>G (p.Asn2240Asp)
c.6688A>G (p.Asn2230Asp)
c.6643A>G (p.Asn2215Asp)
c.6238A>G (p.Asn2080Asp)
c.5596A>G (p.Asn1866Asp)
c.3106A>G (p.Asn1036Asp)
n.7021A>G
 dbSNP
10g.71793511A>TCA377155359CDH23c.6583A>T (p.Asn2195Tyr)
c.6598A>T (p.Asn2200Tyr)
c.6778A>T (p.Asn2260Tyr)
c.6712A>T (p.Asn2238Tyr)
c.6775A>T (p.Asn2259Tyr)
c.6772A>T (p.Asn2258Tyr)
c.6718A>T (p.Asn2240Tyr)
c.6688A>T (p.Asn2230Tyr)
c.6643A>T (p.Asn2215Tyr)
c.6238A>T (p.Asn2080Tyr)
c.5596A>T (p.Asn1866Tyr)
c.3106A>T (p.Asn1036Tyr)
n.7021A>T
10g.71793512A=CA1918874585CDH23c.6584A= (p.Asn2195=)
c.6599A= (p.Asn2200=)
c.6779A= (p.Asn2260=)
c.6713A= (p.Asn2238=)
c.6776A= (p.Asn2259=)
c.6773A= (p.Asn2258=)
c.6719A= (p.Asn2240=)
c.6689A= (p.Asn2230=)
c.6644A= (p.Asn2215=)
c.6239A= (p.Asn2080=)
c.5597A= (p.Asn1866=)
c.3107A= (p.Asn1036=)
n.7022A=
10g.71793512A>CCA377155360CDH23c.6584A>C (p.Asn2195Thr)
c.6599A>C (p.Asn2200Thr)
c.6779A>C (p.Asn2260Thr)
c.6713A>C (p.Asn2238Thr)
c.6776A>C (p.Asn2259Thr)
c.6773A>C (p.Asn2258Thr)
c.6719A>C (p.Asn2240Thr)
c.6689A>C (p.Asn2230Thr)
c.6644A>C (p.Asn2215Thr)
c.6239A>C (p.Asn2080Thr)
c.5597A>C (p.Asn1866Thr)
c.3107A>C (p.Asn1036Thr)
n.7022A>C
10g.71793512A>GCA377155361CDH23c.6584A>G (p.Asn2195Ser)
c.6599A>G (p.Asn2200Ser)
c.6779A>G (p.Asn2260Ser)
c.6713A>G (p.Asn2238Ser)
c.6776A>G (p.Asn2259Ser)
c.6773A>G (p.Asn2258Ser)
c.6719A>G (p.Asn2240Ser)
c.6689A>G (p.Asn2230Ser)
c.6644A>G (p.Asn2215Ser)
c.6239A>G (p.Asn2080Ser)
c.5597A>G (p.Asn1866Ser)
c.3107A>G (p.Asn1036Ser)
n.7022A>G
 dbSNP gnomAD v2 gnomAD v4
10g.71793512A>TCA377155362CDH23c.6584A>T (p.Asn2195Ile)
c.6599A>T (p.Asn2200Ile)
c.6779A>T (p.Asn2260Ile)
c.6713A>T (p.Asn2238Ile)
c.6776A>T (p.Asn2259Ile)
c.6773A>T (p.Asn2258Ile)
c.6719A>T (p.Asn2240Ile)
c.6689A>T (p.Asn2230Ile)
c.6644A>T (p.Asn2215Ile)
c.6239A>T (p.Asn2080Ile)
c.5597A>T (p.Asn1866Ile)
c.3107A>T (p.Asn1036Ile)
n.7022A>T
10g.71793513T>ACA377155363CDH23c.6585T>A (p.Asn2195Lys)
c.6600T>A (p.Asn2200Lys)
c.6780T>A (p.Asn2260Lys)
c.6714T>A (p.Asn2238Lys)
c.6777T>A (p.Asn2259Lys)
c.6774T>A (p.Asn2258Lys)
c.6720T>A (p.Asn2240Lys)
c.6690T>A (p.Asn2230Lys)
c.6645T>A (p.Asn2215Lys)
c.6240T>A (p.Asn2080Lys)
c.5598T>A (p.Asn1866Lys)
c.3108T>A (p.Asn1036Lys)
n.7023T>A
10g.71793513T>CCA645559616CDH23c.6585T>C (p.Asn2195=)
c.6600T>C (p.Asn2200=)
c.6780T>C (p.Asn2260=)
c.6714T>C (p.Asn2238=)
c.6777T>C (p.Asn2259=)
c.6774T>C (p.Asn2258=)
c.6720T>C (p.Asn2240=)
c.6690T>C (p.Asn2230=)
c.6645T>C (p.Asn2215=)
c.6240T>C (p.Asn2080=)
c.5598T>C (p.Asn1866=)
c.3108T>C (p.Asn1036=)
n.7023T>C
 COSMIC
10g.71793513T>GCA377155364CDH23c.6585T>G (p.Asn2195Lys)
c.6600T>G (p.Asn2200Lys)
c.6780T>G (p.Asn2260Lys)
c.6714T>G (p.Asn2238Lys)
c.6777T>G (p.Asn2259Lys)
c.6774T>G (p.Asn2258Lys)
c.6720T>G (p.Asn2240Lys)
c.6690T>G (p.Asn2230Lys)
c.6645T>G (p.Asn2215Lys)
c.6240T>G (p.Asn2080Lys)
c.5598T>G (p.Asn1866Lys)
c.3108T>G (p.Asn1036Lys)
n.7023T>G
10g.71793514A>CCA377155365CDH23c.6586A>C (p.Ile2196Leu)
c.6601A>C (p.Ile2201Leu)
c.6781A>C (p.Ile2261Leu)
c.6715A>C (p.Ile2239Leu)
c.6778A>C (p.Ile2260Leu)
c.6775A>C (p.Ile2259Leu)
c.6721A>C (p.Ile2241Leu)
c.6691A>C (p.Ile2231Leu)
c.6646A>C (p.Ile2216Leu)
c.6241A>C (p.Ile2081Leu)
c.5599A>C (p.Ile1867Leu)
c.3109A>C (p.Ile1037Leu)
n.7024A>C
10g.71793514A>GCA377155366CDH23c.6586A>G (p.Ile2196Val)
c.6601A>G (p.Ile2201Val)
c.6781A>G (p.Ile2261Val)
c.6715A>G (p.Ile2239Val)
c.6778A>G (p.Ile2260Val)
c.6775A>G (p.Ile2259Val)
c.6721A>G (p.Ile2241Val)
c.6691A>G (p.Ile2231Val)
c.6646A>G (p.Ile2216Val)
c.6241A>G (p.Ile2081Val)
c.5599A>G (p.Ile1867Val)
c.3109A>G (p.Ile1037Val)
n.7024A>G
10g.71793514A>TCA377155367CDH23c.6586A>T (p.Ile2196Phe)
c.6601A>T (p.Ile2201Phe)
c.6781A>T (p.Ile2261Phe)
c.6715A>T (p.Ile2239Phe)
c.6778A>T (p.Ile2260Phe)
c.6775A>T (p.Ile2259Phe)
c.6721A>T (p.Ile2241Phe)
c.6691A>T (p.Ile2231Phe)
c.6646A>T (p.Ile2216Phe)
c.6241A>T (p.Ile2081Phe)
c.5599A>T (p.Ile1867Phe)
c.3109A>T (p.Ile1037Phe)
n.7024A>T
 dbSNP gnomAD v4
10g.71793515T>ACA377155370CDH23c.6587T>A (p.Ile2196Asn)
c.6602T>A (p.Ile2201Asn)
c.6782T>A (p.Ile2261Asn)
c.6716T>A (p.Ile2239Asn)
c.6779T>A (p.Ile2260Asn)
c.6776T>A (p.Ile2259Asn)
c.6722T>A (p.Ile2241Asn)
c.6692T>A (p.Ile2231Asn)
c.6647T>A (p.Ile2216Asn)
c.6242T>A (p.Ile2081Asn)
c.5600T>A (p.Ile1867Asn)
c.3110T>A (p.Ile1037Asn)
n.7025T>A
 dbSNP
10g.71793515T>CCA377155369CDH23c.6587T>C (p.Ile2196Thr)
c.6602T>C (p.Ile2201Thr)
c.6782T>C (p.Ile2261Thr)
c.6716T>C (p.Ile2239Thr)
c.6779T>C (p.Ile2260Thr)
c.6776T>C (p.Ile2259Thr)
c.6722T>C (p.Ile2241Thr)
c.6692T>C (p.Ile2231Thr)
c.6647T>C (p.Ile2216Thr)
c.6242T>C (p.Ile2081Thr)
c.5600T>C (p.Ile1867Thr)
c.3110T>C (p.Ile1037Thr)
n.7025T>C
 COSMIC
10g.71793515T>GCA377155368CDH23c.6587T>G (p.Ile2196Ser)
c.6602T>G (p.Ile2201Ser)
c.6782T>G (p.Ile2261Ser)
c.6716T>G (p.Ile2239Ser)
c.6779T>G (p.Ile2260Ser)
c.6776T>G (p.Ile2259Ser)
c.6722T>G (p.Ile2241Ser)
c.6692T>G (p.Ile2231Ser)
c.6647T>G (p.Ile2216Ser)
c.6242T>G (p.Ile2081Ser)
c.5600T>G (p.Ile1867Ser)
c.3110T>G (p.Ile1037Ser)
n.7025T>G
10g.71793515T=CA1918874586CDH23c.6587T= (p.Ile2196=)
c.6602T= (p.Ile2201=)
c.6782T= (p.Ile2261=)
c.6716T= (p.Ile2239=)
c.6779T= (p.Ile2260=)
c.6776T= (p.Ile2259=)
c.6722T= (p.Ile2241=)
c.6692T= (p.Ile2231=)
c.6647T= (p.Ile2216=)
c.6242T= (p.Ile2081=)
c.5600T= (p.Ile1867=)
c.3110T= (p.Ile1037=)
n.7025T=
10g.71793516C>GCA377155371CDH23c.6588C>G (p.Ile2196Met)
c.6603C>G (p.Ile2201Met)
c.6783C>G (p.Ile2261Met)
c.6717C>G (p.Ile2239Met)
c.6780C>G (p.Ile2260Met)
c.6777C>G (p.Ile2259Met)
c.6723C>G (p.Ile2241Met)
c.6693C>G (p.Ile2231Met)
c.6648C>G (p.Ile2216Met)
c.6243C>G (p.Ile2081Met)
c.5601C>G (p.Ile1867Met)
c.3111C>G (p.Ile1037Met)
n.7026C>G
10g.71793517A>CCA377155372CDH23c.6589A>C (p.Thr2197Pro)
c.6604A>C (p.Thr2202Pro)
c.6784A>C (p.Thr2262Pro)
c.6718A>C (p.Thr2240Pro)
c.6781A>C (p.Thr2261Pro)
c.6778A>C (p.Thr2260Pro)
c.6724A>C (p.Thr2242Pro)
c.6694A>C (p.Thr2232Pro)
c.6649A>C (p.Thr2217Pro)
c.6244A>C (p.Thr2082Pro)
c.5602A>C (p.Thr1868Pro)
c.3112A>C (p.Thr1038Pro)
n.7027A>C
 dbSNP
10g.71793517A>GCA377155373CDH23c.6589A>G (p.Thr2197Ala)
c.6604A>G (p.Thr2202Ala)
c.6784A>G (p.Thr2262Ala)
c.6718A>G (p.Thr2240Ala)
c.6781A>G (p.Thr2261Ala)
c.6778A>G (p.Thr2260Ala)
c.6724A>G (p.Thr2242Ala)
c.6694A>G (p.Thr2232Ala)
c.6649A>G (p.Thr2217Ala)
c.6244A>G (p.Thr2082Ala)
c.5602A>G (p.Thr1868Ala)
c.3112A>G (p.Thr1038Ala)
n.7027A>G
 gnomAD v4
10g.71793517A>TCA377155374CDH23c.6589A>T (p.Thr2197Ser)
c.6604A>T (p.Thr2202Ser)
c.6784A>T (p.Thr2262Ser)
c.6718A>T (p.Thr2240Ser)
c.6781A>T (p.Thr2261Ser)
c.6778A>T (p.Thr2260Ser)
c.6724A>T (p.Thr2242Ser)
c.6694A>T (p.Thr2232Ser)
c.6649A>T (p.Thr2217Ser)
c.6244A>T (p.Thr2082Ser)
c.5602A>T (p.Thr1868Ser)
c.3112A>T (p.Thr1038Ser)
n.7027A>T
 gnomAD v4
10g.71793518C>ACA377155375CDH23c.6590C>A (p.Thr2197Lys)
c.6605C>A (p.Thr2202Lys)
c.6785C>A (p.Thr2262Lys)
c.6719C>A (p.Thr2240Lys)
c.6782C>A (p.Thr2261Lys)
c.6779C>A (p.Thr2260Lys)
c.6725C>A (p.Thr2242Lys)
c.6695C>A (p.Thr2232Lys)
c.6650C>A (p.Thr2217Lys)
c.6245C>A (p.Thr2082Lys)
c.5603C>A (p.Thr1868Lys)
c.3113C>A (p.Thr1038Lys)
n.7028C>A
 gnomAD v4
10g.71793518C=CA1918874588CDH23c.6590C= (p.Thr2197=)
c.6605C= (p.Thr2202=)
c.6785C= (p.Thr2262=)
c.6719C= (p.Thr2240=)
c.6782C= (p.Thr2261=)
c.6779C= (p.Thr2260=)
c.6725C= (p.Thr2242=)
c.6695C= (p.Thr2232=)
c.6650C= (p.Thr2217=)
c.6245C= (p.Thr2082=)
c.5603C= (p.Thr1868=)
c.3113C= (p.Thr1038=)
n.7028C=
10g.71793518C>GCA377155376CDH23c.6590C>G (p.Thr2197Arg)
c.6605C>G (p.Thr2202Arg)
c.6785C>G (p.Thr2262Arg)
c.6719C>G (p.Thr2240Arg)
c.6782C>G (p.Thr2261Arg)
c.6779C>G (p.Thr2260Arg)
c.6725C>G (p.Thr2242Arg)
c.6695C>G (p.Thr2232Arg)
c.6650C>G (p.Thr2217Arg)
c.6245C>G (p.Thr2082Arg)
c.5603C>G (p.Thr1868Arg)
c.3113C>G (p.Thr1038Arg)
n.7028C>G
 gnomAD v4
10g.71793518C>TCA209466335CDH23c.6590C>T (p.Thr2197Met)
c.6605C>T (p.Thr2202Met)
c.6785C>T (p.Thr2262Met)
c.6719C>T (p.Thr2240Met)
c.6782C>T (p.Thr2261Met)
c.6779C>T (p.Thr2260Met)
c.6725C>T (p.Thr2242Met)
c.6695C>T (p.Thr2232Met)
c.6650C>T (p.Thr2217Met)
c.6245C>T (p.Thr2082Met)
c.5603C>T (p.Thr1868Met)
c.3113C>T (p.Thr1038Met)
n.7028C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.71793519G>ACA5546124CDH23c.6591G>A (p.Thr2197=)
c.6606G>A (p.Thr2202=)
c.6786G>A (p.Thr2262=)
c.6720G>A (p.Thr2240=)
c.6783G>A (p.Thr2261=)
c.6780G>A (p.Thr2260=)
c.6726G>A (p.Thr2242=)
c.6696G>A (p.Thr2232=)
c.6651G>A (p.Thr2217=)
c.6246G>A (p.Thr2082=)
c.5604G>A (p.Thr1868=)
c.3114G>A (p.Thr1038=)
n.7029G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71793519G=CA1918874592CDH23c.6591G= (p.Thr2197=)
c.6606G= (p.Thr2202=)
c.6786G= (p.Thr2262=)
c.6720G= (p.Thr2240=)
c.6783G= (p.Thr2261=)
c.6780G= (p.Thr2260=)
c.6726G= (p.Thr2242=)
c.6696G= (p.Thr2232=)
c.6651G= (p.Thr2217=)
c.6246G= (p.Thr2082=)
c.5604G= (p.Thr1868=)
c.3114G= (p.Thr1038=)
n.7029G=
10g.71793519G>TCA5546125CDH23c.6591G>T (p.Thr2197=)
c.6606G>T (p.Thr2202=)
c.6786G>T (p.Thr2262=)
c.6720G>T (p.Thr2240=)
c.6783G>T (p.Thr2261=)
c.6780G>T (p.Thr2260=)
c.6726G>T (p.Thr2242=)
c.6696G>T (p.Thr2232=)
c.6651G>T (p.Thr2217=)
c.6246G>T (p.Thr2082=)
c.5604G>T (p.Thr1868=)
c.3114G>T (p.Thr1038=)
n.7029G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71793520G>ACA377155377CDH23c.6592G>A (p.Ala2198Thr)
c.6607G>A (p.Ala2203Thr)
c.6787G>A (p.Ala2263Thr)
c.6721G>A (p.Ala2241Thr)
c.6784G>A (p.Ala2262Thr)
c.6781G>A (p.Ala2261Thr)
c.6727G>A (p.Ala2243Thr)
c.6697G>A (p.Ala2233Thr)
c.6652G>A (p.Ala2218Thr)
c.6247G>A (p.Ala2083Thr)
c.5605G>A (p.Ala1869Thr)
c.3115G>A (p.Ala1039Thr)
n.7030G>A
 dbSNP
10g.71793520G>CCA377155378CDH23c.6592G>C (p.Ala2198Pro)
c.6607G>C (p.Ala2203Pro)
c.6787G>C (p.Ala2263Pro)
c.6721G>C (p.Ala2241Pro)
c.6784G>C (p.Ala2262Pro)
c.6781G>C (p.Ala2261Pro)
c.6727G>C (p.Ala2243Pro)
c.6697G>C (p.Ala2233Pro)
c.6652G>C (p.Ala2218Pro)
c.6247G>C (p.Ala2083Pro)
c.5605G>C (p.Ala1869Pro)
c.3115G>C (p.Ala1039Pro)
n.7030G>C
10g.71793520G>TCA377155379CDH23c.6592G>T (p.Ala2198Ser)
c.6607G>T (p.Ala2203Ser)
c.6787G>T (p.Ala2263Ser)
c.6721G>T (p.Ala2241Ser)
c.6784G>T (p.Ala2262Ser)
c.6781G>T (p.Ala2261Ser)
c.6727G>T (p.Ala2243Ser)
c.6697G>T (p.Ala2233Ser)
c.6652G>T (p.Ala2218Ser)
c.6247G>T (p.Ala2083Ser)
c.5605G>T (p.Ala1869Ser)
c.3115G>T (p.Ala1039Ser)
n.7030G>T

Number of alleles fetched