Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.68695881_68695882delinsCACA2580091832CDH3c.2238_2239delinsCA (p.Pro746=)
c.57_58delinsCA (p.Pro19=)
c.*1976_*1977delinsCA (n.*1976_*1977delinsCA)
c.568_569delinsCA
c.317_318delinsCA
c.2073_2074delinsCA (p.Pro691=)
ClinVar
16g.68695882C>ACA147289CDH3c.2239C>A (p.Arg747=)
c.58C>A (p.Arg20=)
c.*1977C>A (n.*1977C>A)
c.569C>A
c.318C>A
c.2074C>A (p.Arg692=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.68695882C=CA2229920591CDH3c.2239C= (p.Arg747=)
c.58C= (p.Arg20=)
c.*1977C= (n.*1977C=)
c.569C=
c.318C=
c.2074C= (p.Arg692=)
16g.68695882C>GCA396456363CDH3c.2239C>G (p.Arg747Gly)
c.58C>G (p.Arg20Gly)
c.*1977C>G (n.*1977C>G)
c.569C>G
c.318C>G
c.2074C>G (p.Arg692Gly)
16g.68695882C>TCA396456364CDH3c.2239C>T (p.Arg747Trp)
c.58C>T (p.Arg20Trp)
c.*1977C>T (n.*1977C>T)
c.569C>T
c.318C>T
c.2074C>T (p.Arg692Trp)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.68695882_68695883delinsAACA1139664735CDH3c.2239_2240delinsAA (p.Arg747Lys)
c.58_59delinsAA (p.Arg20Lys)
c.*1977_*1978delinsAA (n.*1977_*1978delinsAA)
c.569_570delinsAA
c.318_319delinsAA
c.2074_2075delinsAA (p.Arg692Lys)
ClinVar dbSNP
16g.68695882_68695883delinsCGCA2229920596CDH3c.2239_2240delinsCG (p.Arg747=)
c.58_59delinsCG (p.Arg20=)
c.*1977_*1978delinsCG (n.*1977_*1978delinsCG)
c.569_570delinsCG
c.318_319delinsCG
c.2074_2075delinsCG (p.Arg692=)
16g.68695883G>ACA8129628CDH3c.2240G>A (p.Arg747Gln)
c.59G>A (p.Arg20Gln)
c.*1978G>A (n.*1978G>A)
c.570G>A
c.319G>A
c.2075G>A (p.Arg692Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.68695883G>CCA396456365CDH3c.2240G>C (p.Arg747Pro)
c.59G>C (p.Arg20Pro)
c.*1978G>C (n.*1978G>C)
c.570G>C
c.319G>C
c.2075G>C (p.Arg692Pro)
16g.68695883G=CA2229920603CDH3c.2240G= (p.Arg747=)
c.59G= (p.Arg20=)
c.*1978G= (n.*1978G=)
c.570G=
c.319G=
c.2075G= (p.Arg692=)
16g.68695883G>TCA396456366CDH3c.2240G>T (p.Arg747Leu)
c.59G>T (p.Arg20Leu)
c.*1978G>T (n.*1978G>T)
c.570G>T
c.319G>T
c.2075G>T (p.Arg692Leu)
ClinVar dbSNP gnomAD v4
16g.68695884G>ACA496158071CDH3c.2241G>A (p.Arg747=)
c.60G>A (p.Arg20=)
c.*1979G>A (n.*1979G>A)
c.571G>A
c.320G>A
c.2076G>A (p.Arg692=)
dbSNP
16g.68695884G>CCA496158073CDH3c.2241G>C (p.Arg747=)
c.60G>C (p.Arg20=)
c.*1979G>C (n.*1979G>C)
c.571G>C
c.320G>C
c.2076G>C (p.Arg692=)
16g.68695884G=CA2229920606CDH3c.2241G= (p.Arg747=)
c.60G= (p.Arg20=)
c.*1979G= (n.*1979G=)
c.571G=
c.320G=
c.2076G= (p.Arg692=)
16g.68695884G>TCA496158074CDH3c.2241G>T (p.Arg747=)
c.60G>T (p.Arg20=)
c.*1979G>T (n.*1979G>T)
c.571G>T
c.320G>T
c.2076G>T (p.Arg692=)
16g.68695885C>ACA396456367CDH3c.2242C>A (p.Pro748Thr)
c.61C>A (p.Pro21Thr)
c.*1980C>A (n.*1980C>A)
c.572C>A
c.321C>A
c.2077C>A (p.Pro693Thr)
16g.68695885C>GCA396456368CDH3c.2242C>G (p.Pro748Ala)
c.61C>G (p.Pro21Ala)
c.*1980C>G (n.*1980C>G)
c.572C>G
c.321C>G
c.2077C>G (p.Pro693Ala)
16g.68695885C>TCA396456369CDH3c.2242C>T (p.Pro748Ser)
c.61C>T (p.Pro21Ser)
c.*1980C>T (n.*1980C>T)
c.572C>T
c.321C>T
c.2077C>T (p.Pro693Ser)
gnomAD v4
16g.68695886C>ACA396456371CDH3c.2243C>A (p.Pro748Gln)
c.62C>A (p.Pro21Gln)
c.*1981C>A (n.*1981C>A)
c.573C>A
c.322C>A
c.2078C>A (p.Pro693Gln)
gnomAD v4
16g.68695886C>GCA396456372CDH3c.2243C>G (p.Pro748Arg)
c.62C>G (p.Pro21Arg)
c.*1981C>G (n.*1981C>G)
c.573C>G
c.322C>G
c.2078C>G (p.Pro693Arg)
16g.68695886C>TCA396456370CDH3c.2243C>T (p.Pro748Leu)
c.62C>T (p.Pro21Leu)
c.*1981C>T (n.*1981C>T)
c.573C>T
c.322C>T
c.2078C>T (p.Pro693Leu)
16g.68695887A>CCA496158076CDH3c.2244A>C (p.Pro748=)
c.63A>C (p.Pro21=)
c.*1982A>C (n.*1982A>C)
c.574A>C
c.323A>C
c.2079A>C (p.Pro693=)
16g.68695887A>GCA496158078CDH3c.2244A>G (p.Pro748=)
c.63A>G (p.Pro21=)
c.*1982A>G (n.*1982A>G)
c.574A>G
c.323A>G
c.2079A>G (p.Pro693=)
ClinVar dbSNP gnomAD v4
16g.68695887A>TCA496158077CDH3c.2244A>T (p.Pro748=)
c.63A>T (p.Pro21=)
c.*1982A>T (n.*1982A>T)
c.574A>T
c.323A>T
c.2079A>T (p.Pro693=)
16g.68695888G>ACA396456373CDH3c.2245G>A (p.Ala749Thr)
c.64G>A (p.Ala22Thr)
c.*1983G>A (n.*1983G>A)
c.575G>A
c.324G>A
c.2080G>A (p.Ala694Thr)
gnomAD v4
16g.68695888G>CCA396456374CDH3c.2245G>C (p.Ala749Pro)
c.64G>C (p.Ala22Pro)
c.*1983G>C (n.*1983G>C)
c.575G>C
c.324G>C
c.2080G>C (p.Ala694Pro)
16g.68695888G=CA2229920608CDH3c.2245G= (p.Ala749=)
c.64G= (p.Ala22=)
c.*1983G= (n.*1983G=)
c.575G=
c.324G=
c.2080G= (p.Ala694=)
16g.68695888G>TCA8129629CDH3c.2245G>T (p.Ala749Ser)
c.64G>T (p.Ala22Ser)
c.*1983G>T (n.*1983G>T)
c.575G>T
c.324G>T
c.2080G>T (p.Ala694Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.68695889C>ACA396456375CDH3c.2246C>A (p.Ala749Asp)
c.65C>A (p.Ala22Asp)
c.*1984C>A (n.*1984C>A)
c.576C>A
c.325C>A
c.2081C>A (p.Ala694Asp)
16g.68695889C>GCA396456376CDH3c.2246C>G (p.Ala749Gly)
c.65C>G (p.Ala22Gly)
c.*1984C>G (n.*1984C>G)
c.576C>G
c.325C>G
c.2081C>G (p.Ala694Gly)
16g.68695889C>TCA396456377CDH3c.2246C>T (p.Ala749Val)
c.65C>T (p.Ala22Val)
c.*1984C>T (n.*1984C>T)
c.576C>T
c.325C>T
c.2081C>T (p.Ala694Val)
16g.68695890C>ACA496158080CDH3c.2247C>A (p.Ala749=)
c.66C>A (p.Ala22=)
c.*1985C>A (n.*1985C>A)
c.577C>A
c.326C>A
c.2082C>A (p.Ala694=)
16g.68695890C>GCA496158081CDH3c.2247C>G (p.Ala749=)
c.66C>G (p.Ala22=)
c.*1985C>G (n.*1985C>G)
c.577C>G
c.326C>G
c.2082C>G (p.Ala694=)
16g.68695890C>TCA496158082CDH3c.2247C>T (p.Ala749=)
c.66C>T (p.Ala22=)
c.*1985C>T (n.*1985C>T)
c.577C>T
c.326C>T
c.2082C>T (p.Ala694=)
16g.68695891A>CCA396456378CDH3c.2248A>C (p.Asn750His)
c.67A>C (p.Asn23His)
c.*1986A>C (n.*1986A>C)
c.578A>C
c.327A>C
c.2083A>C (p.Asn695His)
16g.68695891A>GCA396456379CDH3c.2248A>G (p.Asn750Asp)
c.67A>G (p.Asn23Asp)
c.*1986A>G (n.*1986A>G)
c.578A>G
c.327A>G
c.2083A>G (p.Asn695Asp)
16g.68695891A>TCA396456380CDH3c.2248A>T (p.Asn750Tyr)
c.67A>T (p.Asn23Tyr)
c.*1986A>T (n.*1986A>T)
c.578A>T
c.327A>T
c.2083A>T (p.Asn695Tyr)
16g.68695892A>CCA396456381CDH3c.2249A>C (p.Asn750Thr)
c.68A>C (p.Asn23Thr)
c.*1987A>C (n.*1987A>C)
c.579A>C
c.328A>C
c.2084A>C (p.Asn695Thr)
16g.68695892A>GCA396456382CDH3c.2249A>G (p.Asn750Ser)
c.68A>G (p.Asn23Ser)
c.*1987A>G (n.*1987A>G)
c.579A>G
c.328A>G
c.2084A>G (p.Asn695Ser)
16g.68695892A>TCA396456383CDH3c.2249A>T (p.Asn750Ile)
c.68A>T (p.Asn23Ile)
c.*1987A>T (n.*1987A>T)
c.579A>T
c.328A>T
c.2084A>T (p.Asn695Ile)
16g.68695893C>ACA396456384CDH3c.2250C>A (p.Asn750Lys)
c.69C>A (p.Asn23Lys)
c.*1988C>A (n.*1988C>A)
c.580C>A
c.329C>A
c.2085C>A (p.Asn695Lys)
16g.68695893C>GCA396456385CDH3c.2250C>G (p.Asn750Lys)
c.69C>G (p.Asn23Lys)
c.*1988C>G (n.*1988C>G)
c.580C>G
c.329C>G
c.2085C>G (p.Asn695Lys)
16g.68695893C>TCA496158083CDH3c.2250C>T (p.Asn750=)
c.69C>T (p.Asn23=)
c.*1988C>T (n.*1988C>T)
c.580C>T
c.329C>T
c.2085C>T (p.Asn695=)
16g.68695895delCA2633928818CDH3c.2252del (p.Pro751GlnfsTer8)
c.71del (p.Pro24GlnfsTer8)
c.*1990del (n.*1990del)
c.582del
c.331del
c.2087del (p.Pro696GlnfsTer8)
gnomAD v4
16g.68695894C>ACA396456388CDH3c.2251C>A (p.Pro751Thr)
c.70C>A (p.Pro24Thr)
c.*1989C>A (n.*1989C>A)
c.581C>A
c.330C>A
c.2086C>A (p.Pro696Thr)
ClinVar dbSNP gnomAD v4
16g.68695894C=CA2229920612CDH3c.2251C= (p.Pro751=)
c.70C= (p.Pro24=)
c.*1989C= (n.*1989C=)
c.581C=
c.330C=
c.2086C= (p.Pro696=)
16g.68695894C>GCA396456387CDH3c.2251C>G (p.Pro751Ala)
c.70C>G (p.Pro24Ala)
c.*1989C>G (n.*1989C>G)
c.581C>G
c.330C>G
c.2086C>G (p.Pro696Ala)
dbSNP
16g.68695894C>TCA396456386CDH3c.2251C>T (p.Pro751Ser)
c.70C>T (p.Pro24Ser)
c.*1989C>T (n.*1989C>T)
c.581C>T
c.330C>T
c.2086C>T (p.Pro696Ser)
16g.68695895C>ACA396456389CDH3c.2252C>A (p.Pro751Gln)
c.71C>A (p.Pro24Gln)
c.*1990C>A (n.*1990C>A)
c.582C>A
c.331C>A
c.2087C>A (p.Pro696Gln)
gnomAD v4
16g.68695895C>GCA396456390CDH3c.2252C>G (p.Pro751Arg)
c.71C>G (p.Pro24Arg)
c.*1990C>G (n.*1990C>G)
c.582C>G
c.331C>G
c.2087C>G (p.Pro696Arg)
16g.68695895C>TCA396456391CDH3c.2252C>T (p.Pro751Leu)
c.71C>T (p.Pro24Leu)
c.*1990C>T (n.*1990C>T)
c.582C>T
c.331C>T
c.2087C>T (p.Pro696Leu)
16g.68695896A=CA2229920618CDH3c.2253A= (p.Pro751=)
c.72A= (p.Pro24=)
c.*1991A= (n.*1991A=)
c.583A=
c.332A=
c.2088A= (p.Pro696=)
16g.68695896A>CCA496158085CDH3c.2253A>C (p.Pro751=)
c.72A>C (p.Pro24=)
c.*1991A>C (n.*1991A>C)
c.583A>C
c.332A>C
c.2088A>C (p.Pro696=)
gnomAD v4
16g.68695896A>GCA8129630CDH3c.2253A>G (p.Pro751=)
c.72A>G (p.Pro24=)
c.*1991A>G (n.*1991A>G)
c.583A>G
c.332A>G
c.2088A>G (p.Pro696=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.68695896A>TCA496158084CDH3c.2253A>T (p.Pro751=)
c.72A>T (p.Pro24=)
c.*1991A>T (n.*1991A>T)
c.583A>T
c.332A>T
c.2088A>T (p.Pro696=)
16g.68695897_68695901delCA2807468416CDH3c.2254_2258del (p.Asp752AsnfsTer7)
c.73_77del (p.Asp25AsnfsTer7)
c.*1992_*1996del (n.*1992_*1996del)
c.584_588del
c.333_337del
c.2089_2093del (p.Asp697AsnfsTer7)
16g.68695897G>ACA396456392CDH3c.2254G>A (p.Asp752Asn)
c.73G>A (p.Asp25Asn)
c.*1992G>A (n.*1992G>A)
c.584G>A
c.333G>A
c.2089G>A (p.Asp697Asn)
16g.68695897G>CCA396456393CDH3c.2254G>C (p.Asp752His)
c.73G>C (p.Asp25His)
c.*1992G>C (n.*1992G>C)
c.584G>C
c.333G>C
c.2089G>C (p.Asp697His)
16g.68695897G>TCA396456394CDH3c.2254G>T (p.Asp752Tyr)
c.73G>T (p.Asp25Tyr)
c.*1992G>T (n.*1992G>T)
c.584G>T
c.333G>T
c.2089G>T (p.Asp697Tyr)
16g.68695898A=CA2229920621CDH3c.2255A= (p.Asp752=)
c.74A= (p.Asp25=)
c.*1993A= (n.*1993A=)
c.585A=
c.334A=
c.2090A= (p.Asp697=)
16g.68695898A>CCA396456395CDH3c.2255A>C (p.Asp752Ala)
c.74A>C (p.Asp25Ala)
c.*1993A>C (n.*1993A>C)
c.585A>C
c.334A>C
c.2090A>C (p.Asp697Ala)
gnomAD v4
16g.68695898A>GCA396456396CDH3c.2255A>G (p.Asp752Gly)
c.74A>G (p.Asp25Gly)
c.*1993A>G (n.*1993A>G)
c.585A>G
c.334A>G
c.2090A>G (p.Asp697Gly)
dbSNP gnomAD v2 gnomAD v4
16g.68695898A>TCA396456397CDH3c.2255A>T (p.Asp752Val)
c.74A>T (p.Asp25Val)
c.*1993A>T (n.*1993A>T)
c.585A>T
c.334A>T
c.2090A>T (p.Asp697Val)
16g.68695899T>ACA396456398CDH3c.2256T>A (p.Asp752Glu)
c.75T>A (p.Asp25Glu)
c.*1994T>A (n.*1994T>A)
c.586T>A
c.335T>A
c.2091T>A (p.Asp697Glu)
16g.68695899T>CCA496158086CDH3c.2256T>C (p.Asp752=)
c.75T>C (p.Asp25=)
c.*1994T>C (n.*1994T>C)
c.586T>C
c.335T>C
c.2091T>C (p.Asp697=)
16g.68695899T>GCA396456399CDH3c.2256T>G (p.Asp752Glu)
c.75T>G (p.Asp25Glu)
c.*1994T>G (n.*1994T>G)
c.586T>G
c.335T>G
c.2091T>G (p.Asp697Glu)
16g.68695900G>ACA396456402CDH3c.2257G>A (p.Glu753Lys)
c.76G>A (p.Glu26Lys)
c.*1995G>A (n.*1995G>A)
c.587G>A
c.336G>A
c.2092G>A (p.Glu698Lys)
16g.68695900G>CCA396456401CDH3c.2257G>C (p.Glu753Gln)
c.76G>C (p.Glu26Gln)
c.*1995G>C (n.*1995G>C)
c.587G>C
c.336G>C
c.2092G>C (p.Glu698Gln)
16g.68695900G>TCA396456400CDH3c.2257G>T (p.Glu753Ter)
c.76G>T (p.Glu26Ter)
c.*1995G>T (n.*1995G>T)
c.587G>T
c.336G>T
c.2092G>T (p.Glu698Ter)
gnomAD v4
16g.68695901A>CCA396456403CDH3c.2258A>C (p.Glu753Ala)
c.77A>C (p.Glu26Ala)
c.*1996A>C (n.*1996A>C)
c.588A>C
c.337A>C
c.2093A>C (p.Glu698Ala)
16g.68695901A>GCA396456404CDH3c.2258A>G (p.Glu753Gly)
c.77A>G (p.Glu26Gly)
c.*1996A>G (n.*1996A>G)
c.588A>G
c.337A>G
c.2093A>G (p.Glu698Gly)
gnomAD v4
16g.68695901A>TCA396456405CDH3c.2258A>T (p.Glu753Val)
c.77A>T (p.Glu26Val)
c.*1996A>T (n.*1996A>T)
c.588A>T
c.337A>T
c.2093A>T (p.Glu698Val)
16g.68695901_68695902insTGTCACAGCA2529139651CDH3c.2258_2259insTGTCACAG (p.Glu753AspfsTer9)
c.77_78insTGTCACAG (p.Glu26AspfsTer9)
c.*1996_*1997insTGTCACAG (n.*1996_*1997insTGTCACAG)
c.588_589insTGTCACAG
c.337_338insTGTCACAG
c.2093_2094insTGTCACAG (p.Glu698AspfsTer9)
16g.68695902A>CCA396456406CDH3c.2259A>C (p.Glu753Asp)
c.78A>C (p.Glu26Asp)
c.*1997A>C (n.*1997A>C)
c.589A>C
c.338A>C
c.2094A>C (p.Glu698Asp)
16g.68695902A>GCA496158087CDH3c.2259A>G (p.Glu753=)
c.78A>G (p.Glu26=)
c.*1997A>G (n.*1997A>G)
c.589A>G
c.338A>G
c.2094A>G (p.Glu698=)
16g.68695902A>TCA396456407CDH3c.2259A>T (p.Glu753Asp)
c.78A>T (p.Glu26Asp)
c.*1997A>T (n.*1997A>T)
c.589A>T
c.338A>T
c.2094A>T (p.Glu698Asp)
16g.68695903A=CA2229920624CDH3c.2260A= (p.Ile754=)
c.79A= (p.Ile27=)
c.*1998A= (n.*1998A=)
c.590A=
c.339A=
c.2095A= (p.Ile699=)
16g.68695903A>CCA396456408CDH3c.2260A>C (p.Ile754Leu)
c.79A>C (p.Ile27Leu)
c.*1998A>C (n.*1998A>C)
c.590A>C
c.339A>C
c.2095A>C (p.Ile699Leu)
16g.68695903A>GCA8129631CDH3c.2260A>G (p.Ile754Val)
c.79A>G (p.Ile27Val)
c.*1998A>G (n.*1998A>G)
c.590A>G
c.339A>G
c.2095A>G (p.Ile699Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.68695903A>TCA396456409CDH3c.2260A>T (p.Ile754Phe)
c.79A>T (p.Ile27Phe)
c.*1998A>T (n.*1998A>T)
c.590A>T
c.339A>T
c.2095A>T (p.Ile699Phe)
16g.68695904T>ACA396456410CDH3c.2261T>A (p.Ile754Asn)
c.80T>A (p.Ile27Asn)
c.*1999T>A (n.*1999T>A)
c.591T>A
c.340T>A
c.2096T>A (p.Ile699Asn)
gnomAD v3 gnomAD v4
16g.68695904T>CCA396456411CDH3c.2261T>C (p.Ile754Thr)
c.80T>C (p.Ile27Thr)
c.*1999T>C (n.*1999T>C)
c.591T>C
c.340T>C
c.2096T>C (p.Ile699Thr)
16g.68695904T>GCA396456412CDH3c.2261T>G (p.Ile754Ser)
c.80T>G (p.Ile27Ser)
c.*1999T>G (n.*1999T>G)
c.591T>G
c.340T>G
c.2096T>G (p.Ile699Ser)
16g.68695905C>ACA496158088CDH3c.2262C>A (p.Ile754=)
c.81C>A (p.Ile27=)
c.*2000C>A (n.*2000C>A)
c.592C>A
c.341C>A
c.2097C>A (p.Ile699=)
gnomAD v3 gnomAD v4
16g.68695905C=CA2229920629CDH3c.2262C= (p.Ile754=)
c.81C= (p.Ile27=)
c.*2000C= (n.*2000C=)
c.592C=
c.341C=
c.2097C= (p.Ile699=)
16g.68695905C>GCA396456413CDH3c.2262C>G (p.Ile754Met)
c.81C>G (p.Ile27Met)
c.*2000C>G (n.*2000C>G)
c.592C>G
c.341C>G
c.2097C>G (p.Ile699Met)
16g.68695905C>TCA8129632CDH3c.2262C>T (p.Ile754=)
c.81C>T (p.Ile27=)
c.*2000C>T (n.*2000C>T)
c.592C>T
c.341C>T
c.2097C>T (p.Ile699=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.68695906G>ACA8129633CDH3c.2263G>A (p.Gly755Ser)
c.82G>A (p.Gly28Ser)
c.*2001G>A (n.*2001G>A)
c.593G>A
c.342G>A
c.2098G>A (p.Gly700Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.68695906G>CCA396456414CDH3c.2263G>C (p.Gly755Arg)
c.82G>C (p.Gly28Arg)
c.*2001G>C (n.*2001G>C)
c.593G>C
c.342G>C
c.2098G>C (p.Gly700Arg)
16g.68695906G=CA2229920632CDH3c.2263G= (p.Gly755=)
c.82G= (p.Gly28=)
c.*2001G= (n.*2001G=)
c.593G=
c.342G=
c.2098G= (p.Gly700=)
16g.68695906G>TCA396456415CDH3c.2263G>T (p.Gly755Cys)
c.82G>T (p.Gly28Cys)
c.*2001G>T (n.*2001G>T)
c.593G>T
c.342G>T
c.2098G>T (p.Gly700Cys)
16g.68695907G>ACA396456416CDH3c.2264G>A (p.Gly755Asp)
c.83G>A (p.Gly28Asp)
c.*2002G>A (n.*2002G>A)
c.594G>A
c.343G>A
c.2099G>A (p.Gly700Asp)
gnomAD v4
16g.68695907G>CCA396456417CDH3c.2264G>C (p.Gly755Ala)
c.83G>C (p.Gly28Ala)
c.*2002G>C (n.*2002G>C)
c.594G>C
c.343G>C
c.2099G>C (p.Gly700Ala)
dbSNP
16g.68695907G=CA2229920636CDH3c.2264G= (p.Gly755=)
c.83G= (p.Gly28=)
c.*2002G= (n.*2002G=)
c.594G=
c.343G=
c.2099G= (p.Gly700=)
16g.68695907G>TCA396456418CDH3c.2264G>T (p.Gly755Val)
c.83G>T (p.Gly28Val)
c.*2002G>T (n.*2002G>T)
c.594G>T
c.343G>T
c.2099G>T (p.Gly700Val)
ClinVar dbSNP
16g.68695908C>ACA496158090CDH3c.2265C>A (p.Gly755=)
c.84C>A (p.Gly28=)
c.*2003C>A (n.*2003C>A)
c.595C>A
c.344C>A
c.2100C>A (p.Gly700=)
16g.68695908C>GCA496158091CDH3c.2265C>G (p.Gly755=)
c.84C>G (p.Gly28=)
c.*2003C>G (n.*2003C>G)
c.595C>G
c.344C>G
c.2100C>G (p.Gly700=)
16g.68695908C>TCA496158092CDH3c.2265C>T (p.Gly755=)
c.84C>T (p.Gly28=)
c.*2003C>T (n.*2003C>T)
c.595C>T
c.344C>T
c.2100C>T (p.Gly700=)
16g.68695909A>CCA396456419CDH3c.2266A>C (p.Asn756His)
c.85A>C (p.Asn29His)
c.*2004A>C (n.*2004A>C)
c.596A>C
c.345A>C
c.2101A>C (p.Asn701His)
16g.68695909A>GCA396456420CDH3c.2266A>G (p.Asn756Asp)
c.85A>G (p.Asn29Asp)
c.*2004A>G (n.*2004A>G)
c.596A>G
c.345A>G
c.2101A>G (p.Asn701Asp)
gnomAD v4
16g.68695909A>TCA396456421CDH3c.2266A>T (p.Asn756Tyr)
c.85A>T (p.Asn29Tyr)
c.*2004A>T (n.*2004A>T)
c.596A>T
c.345A>T
c.2101A>T (p.Asn701Tyr)
16g.68695910A>CCA396456422CDH3c.2267A>C (p.Asn756Thr)
c.86A>C (p.Asn29Thr)
c.*2005A>C (n.*2005A>C)
c.597A>C
c.346A>C
c.2102A>C (p.Asn701Thr)
16g.68695910A>GCA396456423CDH3c.2267A>G (p.Asn756Ser)
c.86A>G (p.Asn29Ser)
c.*2005A>G (n.*2005A>G)
c.597A>G
c.346A>G
c.2102A>G (p.Asn701Ser)
16g.68695910A>TCA396456424CDH3c.2267A>T (p.Asn756Ile)
c.86A>T (p.Asn29Ile)
c.*2005A>T (n.*2005A>T)
c.597A>T
c.346A>T
c.2102A>T (p.Asn701Ile)
16g.68695911C>ACA396456425CDH3c.2268C>A (p.Asn756Lys)
c.87C>A (p.Asn29Lys)
c.*2006C>A (n.*2006C>A)
c.598C>A
c.347C>A
c.2103C>A (p.Asn701Lys)
16g.68695911C>GCA396456426CDH3c.2268C>G (p.Asn756Lys)
c.87C>G (p.Asn29Lys)
c.*2006C>G (n.*2006C>G)
c.598C>G
c.347C>G
c.2103C>G (p.Asn701Lys)
16g.68695911C>TCA496158093CDH3c.2268C>T (p.Asn756=)
c.87C>T (p.Asn29=)
c.*2006C>T (n.*2006C>T)
c.598C>T
c.347C>T
c.2103C>T (p.Asn701=)
ClinVar dbSNP
16g.68695912T>ACA396456429CDH3c.2269T>A (p.Phe757Ile)
c.88T>A (p.Phe30Ile)
c.*2007T>A (n.*2007T>A)
c.599T>A
c.348T>A
c.2104T>A (p.Phe702Ile)
16g.68695912T>CCA396456428CDH3c.2269T>C (p.Phe757Leu)
c.88T>C (p.Phe30Leu)
c.*2007T>C (n.*2007T>C)
c.599T>C
c.348T>C
c.2104T>C (p.Phe702Leu)
16g.68695912T>GCA396456427CDH3c.2269T>G (p.Phe757Val)
c.88T>G (p.Phe30Val)
c.*2007T>G (n.*2007T>G)
c.599T>G
c.348T>G
c.2104T>G (p.Phe702Val)
16g.68695913T>ACA396456430CDH3c.2270T>A (p.Phe757Tyr)
c.89T>A (p.Phe30Tyr)
c.*2008T>A (n.*2008T>A)
c.600T>A
c.349T>A
c.2105T>A (p.Phe702Tyr)
16g.68695913T>CCA396456432CDH3c.2270T>C (p.Phe757Ser)
c.89T>C (p.Phe30Ser)
c.*2008T>C (n.*2008T>C)
c.600T>C
c.349T>C
c.2105T>C (p.Phe702Ser)
16g.68695913T>GCA396456431CDH3c.2270T>G (p.Phe757Cys)
c.89T>G (p.Phe30Cys)
c.*2008T>G (n.*2008T>G)
c.600T>G
c.349T>G
c.2105T>G (p.Phe702Cys)
16g.68695914T>ACA396456433CDH3c.2271T>A (p.Phe757Leu)
c.90T>A (p.Phe30Leu)
c.*2009T>A (n.*2009T>A)
c.601T>A
c.350T>A
c.2106T>A (p.Phe702Leu)
16g.68695914T>CCA496158094CDH3c.2271T>C (p.Phe757=)
c.90T>C (p.Phe30=)
c.*2009T>C (n.*2009T>C)
c.601T>C
c.350T>C
c.2106T>C (p.Phe702=)
16g.68695914T>GCA396456434CDH3c.2271T>G (p.Phe757Leu)
c.90T>G (p.Phe30Leu)
c.*2009T>G (n.*2009T>G)
c.601T>G
c.350T>G
c.2106T>G (p.Phe702Leu)
16g.68695915A>CCA396456435CDH3c.2272A>C (p.Ile758Leu)
c.91A>C (p.Ile31Leu)
c.*2010A>C (n.*2010A>C)
c.602A>C
c.351A>C
c.2107A>C (p.Ile703Leu)
16g.68695915A>GCA396456436CDH3c.2272A>G (p.Ile758Val)
c.91A>G (p.Ile31Val)
c.*2010A>G (n.*2010A>G)
c.602A>G
c.351A>G
c.2107A>G (p.Ile703Val)
16g.68695915A>TCA396456437CDH3c.2272A>T (p.Ile758Leu)
c.91A>T (p.Ile31Leu)
c.*2010A>T (n.*2010A>T)
c.602A>T
c.351A>T
c.2107A>T (p.Ile703Leu)
16g.68695916T>ACA396456438CDH3c.2273T>A (p.Ile758Lys)
c.92T>A (p.Ile31Lys)
c.*2011T>A (n.*2011T>A)
c.603T>A
c.352T>A
c.2108T>A (p.Ile703Lys)
16g.68695916T>CCA396456439CDH3c.2273T>C (p.Ile758Thr)
c.92T>C (p.Ile31Thr)
c.*2011T>C (n.*2011T>C)
c.603T>C
c.352T>C
c.2108T>C (p.Ile703Thr)
gnomAD v4
16g.68695916T>GCA396456440CDH3c.2273T>G (p.Ile758Arg)
c.92T>G (p.Ile31Arg)
c.*2011T>G (n.*2011T>G)
c.603T>G
c.352T>G
c.2108T>G (p.Ile703Arg)
16g.68695917A>CCA496158096CDH3c.2274A>C (p.Ile758=)
c.93A>C (p.Ile31=)
c.*2012A>C (n.*2012A>C)
c.604A>C
c.353A>C
c.2109A>C (p.Ile703=)
16g.68695917A>GCA396456441CDH3c.2274A>G (p.Ile758Met)
c.93A>G (p.Ile31Met)
c.*2012A>G (n.*2012A>G)
c.604A>G
c.353A>G
c.2109A>G (p.Ile703Met)
16g.68695917A>TCA496158095CDH3c.2274A>T (p.Ile758=)
c.93A>T (p.Ile31=)
c.*2012A>T (n.*2012A>T)
c.604A>T
c.353A>T
c.2109A>T (p.Ile703=)
16g.68695918A>CCA396456442CDH3c.2275A>C (p.Ile759Leu)
c.94A>C (p.Ile32Leu)
c.*2013A>C (n.*2013A>C)
c.605A>C
c.354A>C
c.2110A>C (p.Ile704Leu)
16g.68695918A>GCA396456443CDH3c.2275A>G (p.Ile759Val)
c.94A>G (p.Ile32Val)
c.*2013A>G (n.*2013A>G)
c.605A>G
c.354A>G
c.2110A>G (p.Ile704Val)
16g.68695918A>TCA396456444CDH3c.2275A>T (p.Ile759Phe)
c.94A>T (p.Ile32Phe)
c.*2013A>T (n.*2013A>T)
c.605A>T
c.354A>T
c.2110A>T (p.Ile704Phe)
16g.68695919T>ACA396456447CDH3c.2276T>A (p.Ile759Asn)
c.95T>A (p.Ile32Asn)
c.*2014T>A (n.*2014T>A)
c.606T>A
c.355T>A
c.2111T>A (p.Ile704Asn)
16g.68695919T>CCA396456446CDH3c.2276T>C (p.Ile759Thr)
c.95T>C (p.Ile32Thr)
c.*2014T>C (n.*2014T>C)
c.606T>C
c.355T>C
c.2111T>C (p.Ile704Thr)
dbSNP gnomAD v4
16g.68695919T>GCA396456445CDH3c.2276T>G (p.Ile759Ser)
c.95T>G (p.Ile32Ser)
c.*2014T>G (n.*2014T>G)
c.606T>G
c.355T>G
c.2111T>G (p.Ile704Ser)
16g.68695919T=CA2229920639CDH3c.2276T= (p.Ile759=)
c.95T= (p.Ile32=)
c.*2014T= (n.*2014T=)
c.606T=
c.355T=
c.2111T= (p.Ile704=)
16g.68695919_68695920insACACA2807468417CDH3c.2276_2277insACA (p.Ile759_Glu760insHis)
c.95_96insACA (p.Ile32_Glu33insHis)
c.*2014_*2015insACA (n.*2014_*2015insACA)
c.606_607insACA
c.355_356insACA
c.2111_2112insACA (p.Ile704_Glu705insHis)
16g.68695920T>ACA496158097CDH3c.2277T>A (p.Ile759=)
c.96T>A (p.Ile32=)
c.*2015T>A (n.*2015T>A)
c.607T>A
c.356T>A
c.2112T>A (p.Ile704=)
16g.68695920T>CCA496158098CDH3c.2277T>C (p.Ile759=)
c.96T>C (p.Ile32=)
c.*2015T>C (n.*2015T>C)
c.607T>C
c.356T>C
c.2112T>C (p.Ile704=)
dbSNP
16g.68695920T>GCA396456448CDH3c.2277T>G (p.Ile759Met)
c.96T>G (p.Ile32Met)
c.*2015T>G (n.*2015T>G)
c.607T>G
c.356T>G
c.2112T>G (p.Ile704Met)
16g.68695921G>ACA396456449CDH3c.2278G>A (p.Glu760Lys)
c.97G>A (p.Glu33Lys)
c.*2016G>A (n.*2016G>A)
c.608G>A
c.357G>A
c.2113G>A (p.Glu705Lys)
16g.68695921G>CCA396456450CDH3c.2278G>C (p.Glu760Gln)
c.97G>C (p.Glu33Gln)
c.*2016G>C (n.*2016G>C)
c.608G>C
c.357G>C
c.2113G>C (p.Glu705Gln)
16g.68695921G>TCA396456451CDH3c.2278G>T (p.Glu760Ter)
c.97G>T (p.Glu33Ter)
c.*2016G>T (n.*2016G>T)
c.608G>T
c.357G>T
c.2113G>T (p.Glu705Ter)
16g.68695922A>CCA396456452CDH3c.2279A>C (p.Glu760Ala)
c.98A>C (p.Glu33Ala)
c.*2017A>C (n.*2017A>C)
c.609A>C
c.358A>C
c.2114A>C (p.Glu705Ala)
16g.68695922A>GCA396456453CDH3c.2279A>G (p.Glu760Gly)
c.98A>G (p.Glu33Gly)
c.*2017A>G (n.*2017A>G)
c.609A>G
c.358A>G
c.2114A>G (p.Glu705Gly)
16g.68695922A>TCA396456454CDH3c.2279A>T (p.Glu760Val)
c.98A>T (p.Glu33Val)
c.*2017A>T (n.*2017A>T)
c.609A>T
c.358A>T
c.2114A>T (p.Glu705Val)
16g.68695923G>ACA496158099CDH3c.2280G>A (p.Glu760=)
c.99G>A (p.Glu33=)
c.*2018G>A (n.*2018G>A)
c.610G>A
c.359G>A
c.2115G>A (p.Glu705=)
16g.68695923G>CCA396456455CDH3c.2280G>C (p.Glu760Asp)
c.99G>C (p.Glu33Asp)
c.*2018G>C (n.*2018G>C)
c.610G>C
c.359G>C
c.2115G>C (p.Glu705Asp)
16g.68695923G>TCA396456456CDH3c.2280G>T (p.Glu760Asp)
c.99G>T (p.Glu33Asp)
c.*2018G>T (n.*2018G>T)
c.610G>T
c.359G>T
c.2115G>T (p.Glu705Asp)
16g.68695924dupCA2573152571CDH3c.2280+1dup
c.99+1dup
c.*2018+1dup
c.610+1dup
c.360dup
c.2115+1dup
ClinVar dbSNP
16g.68695924G>ACA396456457CDH3c.2280+1G>A (n.2280+1G>A)
c.99+1G>A (n.99+1G>A)
c.*2018+1G>A (n.*2018+1G>A)
c.610+1G>A
c.360G>A
c.2115+1G>A (n.2115+1G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.68695924G>CCA396456458CDH3c.2280+1G>C (n.2280+1G>C)
c.99+1G>C (n.99+1G>C)
c.*2018+1G>C (n.*2018+1G>C)
c.610+1G>C
c.360G>C
c.2115+1G>C (n.2115+1G>C)
16g.68695924G=CA2229920642CDH3c.2280+1G= (n.2280+1G=)
c.99+1G= (n.99+1G=)
c.*2018+1G= (n.*2018+1G=)
c.610+1G=
c.360G=
c.2115+1G= (n.2115+1G=)
16g.68695924G>TCA396456459CDH3c.2280+1G>T (n.2280+1G>T)
c.99+1G>T (n.99+1G>T)
c.*2018+1G>T (n.*2018+1G>T)
c.610+1G>T
c.360G>T
c.2115+1G>T (n.2115+1G>T)
16g.68695924_68695925insACACA2807468418CDH3c.2280+1_2280+2insACA (n.2280+1_2280+2insACA)
c.99+1_99+2insACA (n.99+1_99+2insACA)
c.*2018+1_*2018+2insACA (n.*2018+1_*2018+2insACA)
c.610+1_610+2insACA
c.360_361insACA
c.2115+1_2115+2insACA (n.2115+1_2115+2insACA)
16g.68695925T>ACA396456461CDH3c.2280+2T>A (n.2280+2T>A)
c.99+2T>A (n.99+2T>A)
c.*2018+2T>A (n.*2018+2T>A)
c.610+2T>A
c.361T>A
c.2115+2T>A (n.2115+2T>A)
16g.68695925T>CCA396456462CDH3c.2280+2T>C (n.2280+2T>C)
c.99+2T>C (n.99+2T>C)
c.*2018+2T>C (n.*2018+2T>C)
c.610+2T>C
c.361T>C
c.2115+2T>C (n.2115+2T>C)
16g.68695925T>GCA396456460CDH3c.2280+2T>G (n.2280+2T>G)
c.99+2T>G (n.99+2T>G)
c.*2018+2T>G (n.*2018+2T>G)
c.610+2T>G
c.361T>G
c.2115+2T>G (n.2115+2T>G)
16g.68695926G>ACA2633928883CDH3c.2280+3G>A (n.2280+3G>A)
c.99+3G>A (n.99+3G>A)
c.*2018+3G>A (n.*2018+3G>A)
c.610+3G>A
c.362G>A
c.2115+3G>A (n.2115+3G>A)
gnomAD v4
16g.68695926G>CCA2807468419CDH3c.2280+3G>C (n.2280+3G>C)
c.99+3G>C (n.99+3G>C)
c.*2018+3G>C (n.*2018+3G>C)
c.610+3G>C
c.362G>C
c.2115+3G>C (n.2115+3G>C)
16g.68695929delCA2807468420CDH3c.2280+6del (n.2280+6del)
c.99+6del (n.99+6del)
c.*2018+6del (n.*2018+6del)
c.610+6del
c.365del
c.2115+6del (n.2115+6del)
16g.68695928_68695929insACACA2807468421CDH3c.2280+5_2280+6insACA (n.2280+5_2280+6insACA)
c.99+5_99+6insACA (n.99+5_99+6insACA)
c.*2018+5_*2018+6insACA (n.*2018+5_*2018+6insACA)
c.610+5_610+6insACA
c.364_365insACA
c.2115+5_2115+6insACA (n.2115+5_2115+6insACA)
16g.68695928_68695929insAGACA2807468422CDH3c.2280+5_2280+6insAGA (n.2280+5_2280+6insAGA)
c.99+5_99+6insAGA (n.99+5_99+6insAGA)
c.*2018+5_*2018+6insAGA (n.*2018+5_*2018+6insAGA)
c.610+5_610+6insAGA
c.364_365insAGA
c.2115+5_2115+6insAGA (n.2115+5_2115+6insAGA)
16g.68695929G>ACA2807468423CDH3c.2280+6G>A (n.2280+6G>A)
c.99+6G>A (n.99+6G>A)
c.*2018+6G>A (n.*2018+6G>A)
c.610+6G>A
c.365G>A
c.2115+6G>A (n.2115+6G>A)
16g.68695929G>CCA2229920645CDH3c.2280+6G>C (n.2280+6G>C)
c.99+6G>C (n.99+6G>C)
c.*2018+6G>C (n.*2018+6G>C)
c.610+6G>C
c.365G>C
c.2115+6G>C (n.2115+6G>C)
ClinVar dbSNP
16g.68695929G=CA2229920644CDH3c.2280+6G= (n.2280+6G=)
c.99+6G= (n.99+6G=)
c.*2018+6G= (n.*2018+6G=)
c.610+6G=
c.365G=
c.2115+6G= (n.2115+6G=)
16g.68695929_68695930insACTACA2807468424CDH3c.2280+6_2280+7insACTA (n.2280+6_2280+7insACTA)
c.99+6_99+7insACTA (n.99+6_99+7insACTA)
c.*2018+6_*2018+7insACTA (n.*2018+6_*2018+7insACTA)
c.610+6_610+7insACTA
c.365_366insACTA
c.2115+6_2115+7insACTA (n.2115+6_2115+7insACTA)
16g.68695930C>ACA2229920649CDH3c.2280+7C>A (n.2280+7C>A)
c.99+7C>A (n.99+7C>A)
c.*2018+7C>A (n.*2018+7C>A)
c.610+7C>A
c.366C>A
c.2115+7C>A (n.2115+7C>A)
dbSNP gnomAD v3 gnomAD v4
16g.68695930C=CA2229920648CDH3c.2280+7C= (n.2280+7C=)
c.99+7C= (n.99+7C=)
c.*2018+7C= (n.*2018+7C=)
c.610+7C=
c.366C=
c.2115+7C= (n.2115+7C=)
16g.68695930C>GCA2576038529CDH3c.2280+7C>G (n.2280+7C>G)
c.99+7C>G (n.99+7C>G)
c.*2018+7C>G (n.*2018+7C>G)
c.610+7C>G
c.366C>G
c.2115+7C>G (n.2115+7C>G)
gnomAD v4
16g.68695930C>TCA8129634CDH3c.2280+7C>T (n.2280+7C>T)
c.99+7C>T (n.99+7C>T)
c.*2018+7C>T (n.*2018+7C>T)
c.610+7C>T
c.366C>T
c.2115+7C>T (n.2115+7C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.68695931delCA2807468425CDH3c.2280+8del (n.2280+8del)
c.99+8del (n.99+8del)
c.*2018+8del (n.*2018+8del)
c.610+8del
c.367del
c.2115+8del (n.2115+8del)
16g.68695931G>ACA8129635CDH3c.2280+8G>A (n.2280+8G>A)
c.99+8G>A (n.99+8G>A)
c.*2018+8G>A (n.*2018+8G>A)
c.610+8G>A
c.367G>A
c.2115+8G>A (n.2115+8G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.68695931G=CA2229920651CDH3c.2280+8G= (n.2280+8G=)
c.99+8G= (n.99+8G=)
c.*2018+8G= (n.*2018+8G=)
c.610+8G=
c.367G=
c.2115+8G= (n.2115+8G=)
16g.68695931G>TCA2807468427CDH3c.2280+8G>T (n.2280+8G>T)
c.99+8G>T (n.99+8G>T)
c.*2018+8G>T (n.*2018+8G>T)
c.610+8G>T
c.367G>T
c.2115+8G>T (n.2115+8G>T)
16g.68695932_68695934delCA2807468426CDH3c.2280+9_2280+11del (n.2280+9_2280+11del)
c.99+9_99+11del (n.99+9_99+11del)
c.*2018+9_*2018+11del (n.*2018+9_*2018+11del)
c.610+9_610+11del
c.368_370del
c.2115+9_2115+11del (n.2115+9_2115+11del)
16g.68695931_68695932insAGACA2807468429CDH3c.2280+8_2280+9insAGA (n.2280+8_2280+9insAGA)
c.99+8_99+9insAGA (n.99+8_99+9insAGA)
c.*2018+8_*2018+9insAGA (n.*2018+8_*2018+9insAGA)
c.610+8_610+9insAGA
c.367_368insAGA
c.2115+8_2115+9insAGA (n.2115+8_2115+9insAGA)
16g.68695932T>CCA2807468428CDH3c.2280+9T>C (n.2280+9T>C)
c.99+9T>C (n.99+9T>C)
c.*2018+9T>C (n.*2018+9T>C)
c.610+9T>C
c.368T>C
c.2115+9T>C (n.2115+9T>C)
16g.68695933G>ACA2499223646CDH3c.2280+10G>A (n.2280+10G>A)
c.99+10G>A (n.99+10G>A)
c.*2018+10G>A (n.*2018+10G>A)
c.610+10G>A
c.369G>A
c.2115+10G>A (n.2115+10G>A)
ClinVar dbSNP
16g.68695934G>ACA2633928929CDH3c.2280+11G>A (n.2280+11G>A)
c.99+11G>A (n.99+11G>A)
c.*2018+11G>A (n.*2018+11G>A)
c.610+11G>A
c.370G>A
c.2115+11G>A (n.2115+11G>A)
gnomAD v4
16g.68695934G>CCA2580091837CDH3c.2280+11G>C (n.2280+11G>C)
c.99+11G>C (n.99+11G>C)
c.*2018+11G>C (n.*2018+11G>C)
c.610+11G>C
c.370G>C
c.2115+11G>C (n.2115+11G>C)
ClinVar
16g.68695934_68695940delCA2807468430CDH3c.2280+11_2280+17del (n.2280+11_2280+17del)
c.99+11_99+17del (n.99+11_99+17del)
c.*2018+11_*2018+17del (n.*2018+11_*2018+17del)
c.610+11_610+17del
c.370_376del
c.2115+11_2115+17del (n.2115+11_2115+17del)
16g.68695935C>ACA2633928932CDH3c.2280+12C>A (n.2280+12C>A)
c.99+12C>A (n.99+12C>A)
c.*2018+12C>A (n.*2018+12C>A)
c.610+12C>A
c.371C>A
c.2115+12C>A (n.2115+12C>A)
gnomAD v4
16g.68695936A=CA2229920654CDH3c.2280+13A= (n.2280+13A=)
c.99+13A= (n.99+13A=)
c.*2018+13A= (n.*2018+13A=)
c.610+13A=
c.372A=
c.2115+13A= (n.2115+13A=)
16g.68695936A>GCA8129636CDH3c.2280+13A>G (n.2280+13A>G)
c.99+13A>G (n.99+13A>G)
c.*2018+13A>G (n.*2018+13A>G)
c.610+13A>G
c.372A>G
c.2115+13A>G (n.2115+13A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.68695937G>ACA2576038530CDH3c.2280+14G>A (n.2280+14G>A)
c.99+14G>A (n.99+14G>A)
c.*2018+14G>A (n.*2018+14G>A)
c.610+14G>A
c.373G>A
c.2115+14G>A (n.2115+14G>A)
gnomAD v4
16g.68695937_68695938delCA2807468431CDH3c.2280+14_2280+15del (n.2280+14_2280+15del)
c.99+14_99+15del (n.99+14_99+15del)
c.*2018+14_*2018+15del (n.*2018+14_*2018+15del)
c.610+14_610+15del
c.373_374del
c.2115+14_2115+15del (n.2115+14_2115+15del)
16g.68695938G=CA2229920658CDH3c.2280+15G= (n.2280+15G=)
c.99+15G= (n.99+15G=)
c.*2018+15G= (n.*2018+15G=)
c.610+15G=
c.374G=
c.2115+15G= (n.2115+15G=)
16g.68695938G>TCA623143693CDH3c.2280+15G>T (n.2280+15G>T)
c.99+15G>T (n.99+15G>T)
c.*2018+15G>T (n.*2018+15G>T)
c.610+15G>T
c.374G>T
c.2115+15G>T (n.2115+15G>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.68695938_68695940delCA2807468432CDH3c.2280+15_2280+17del (n.2280+15_2280+17del)
c.99+15_99+17del (n.99+15_99+17del)
c.*2018+15_*2018+17del (n.*2018+15_*2018+17del)
c.610+15_610+17del
c.374_376del
c.2115+15_2115+17del (n.2115+15_2115+17del)
16g.68695939C=CA2229920661CDH3c.2280+16C= (n.2280+16C=)
c.99+16C= (n.99+16C=)
c.*2018+16C= (n.*2018+16C=)
c.610+16C=
c.375C=
c.2115+16C= (n.2115+16C=)
16g.68695939C>GCA8129637CDH3c.2280+16C>G (n.2280+16C>G)
c.99+16C>G (n.99+16C>G)
c.*2018+16C>G (n.*2018+16C>G)
c.610+16C>G
c.375C>G
c.2115+16C>G (n.2115+16C>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.68695940C=CA2229920663CDH3c.2280+17C= (n.2280+17C=)
c.99+17C= (n.99+17C=)
c.*2018+17C= (n.*2018+17C=)
c.610+17C=
c.376C=
c.2115+17C= (n.2115+17C=)
16g.68695940C>TCA2229920664CDH3c.2280+17C>T (n.2280+17C>T)
c.99+17C>T (n.99+17C>T)
c.*2018+17C>T (n.*2018+17C>T)
c.610+17C>T
c.376C>T
c.2115+17C>T (n.2115+17C>T)
dbSNP
16g.68695942G>CCA2633928941CDH3c.2280+19G>C (n.2280+19G>C)
c.99+19G>C (n.99+19G>C)
c.*2018+19G>C (n.*2018+19G>C)
c.610+19G>C
c.378G>C
c.2115+19G>C (n.2115+19G>C)
gnomAD v4
16g.68695943T>CCA623143694CDH3c.2280+20T>C (n.2280+20T>C)
c.99+20T>C (n.99+20T>C)
c.*2018+20T>C (n.*2018+20T>C)
c.610+20T>C
c.379T>C
c.2115+20T>C (n.2115+20T>C)
dbSNP gnomAD v2
16g.68695943T=CA2229920666CDH3c.2280+20T= (n.2280+20T=)
c.99+20T= (n.99+20T=)
c.*2018+20T= (n.*2018+20T=)
c.610+20T=
c.379T=
c.2115+20T= (n.2115+20T=)
16g.68695943_68695944insACA2807468433CDH3c.2280+20_2280+21insA (n.2280+20_2280+21insA)
c.99+20_99+21insA (n.99+20_99+21insA)
c.*2018+20_*2018+21insA (n.*2018+20_*2018+21insA)
c.610+20_610+21insA
c.379_380insA
c.2115+20_2115+21insA (n.2115+20_2115+21insA)
16g.68695944C=CA2229920684CDH3c.2280+21C= (n.2280+21C=)
c.99+21C= (n.99+21C=)
c.*2018+21C= (n.*2018+21C=)
c.610+21C=
c.380C=
c.2115+21C= (n.2115+21C=)
16g.68695944C>GCA2229920685CDH3c.2280+21C>G (n.2280+21C>G)
c.99+21C>G (n.99+21C>G)
c.*2018+21C>G (n.*2018+21C>G)
c.610+21C>G
c.380C>G
c.2115+21C>G (n.2115+21C>G)
dbSNP
16g.68695944C>TCA8129638CDH3c.2280+21C>T (n.2280+21C>T)
c.99+21C>T (n.99+21C>T)
c.*2018+21C>T (n.*2018+21C>T)
c.610+21C>T
c.380C>T
c.2115+21C>T (n.2115+21C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.68695944_68695945insACA2807468434CDH3c.2280+21_2280+22insA (n.2280+21_2280+22insA)
c.99+21_99+22insA (n.99+21_99+22insA)
c.*2018+21_*2018+22insA (n.*2018+21_*2018+22insA)
c.610+21_610+22insA
c.380_381insA
c.2115+21_2115+22insA (n.2115+21_2115+22insA)
16g.68695944_68695945insACTCA2807468435CDH3c.2280+21_2280+22insACT (n.2280+21_2280+22insACT)
c.99+21_99+22insACT (n.99+21_99+22insACT)
c.*2018+21_*2018+22insACT (n.*2018+21_*2018+22insACT)
c.610+21_610+22insACT
c.380_381insACT
c.2115+21_2115+22insACT (n.2115+21_2115+22insACT)
16g.68695945G>ACA8129639CDH3c.2280+22G>A (n.2280+22G>A)
c.99+22G>A (n.99+22G>A)
c.*2018+22G>A (n.*2018+22G>A)
c.610+22G>A
c.381G>A
c.2115+22G>A (n.2115+22G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.68695945G>CCA8129640CDH3c.2280+22G>C (n.2280+22G>C)
c.99+22G>C (n.99+22G>C)
c.*2018+22G>C (n.*2018+22G>C)
c.610+22G>C
c.381G>C
c.2115+22G>C (n.2115+22G>C)
dbSNP ExAC gnomAD v2
16g.68695945G=CA2229920690CDH3c.2280+22G= (n.2280+22G=)
c.99+22G= (n.99+22G=)
c.*2018+22G= (n.*2018+22G=)
c.610+22G=
c.381G=
c.2115+22G= (n.2115+22G=)
16g.68695946_68695948delCA978525945CDH3c.2280+23_2280+25del (n.2280+23_2280+25del)
c.99+23_99+25del (n.99+23_99+25del)
c.*2018+23_*2018+25del (n.*2018+23_*2018+25del)
c.610+23_610+25del
c.382_384del
c.2115+23_2115+25del (n.2115+23_2115+25del)
gnomAD v3 gnomAD v4
16g.68695947G>ACA8129641CDH3c.2280+24G>A (n.2280+24G>A)
c.99+24G>A (n.99+24G>A)
c.*2018+24G>A (n.*2018+24G>A)
c.610+24G>A
c.383G>A
c.2115+24G>A (n.2115+24G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.68695947G>CCA2633928948CDH3c.2280+24G>C (n.2280+24G>C)
c.99+24G>C (n.99+24G>C)
c.*2018+24G>C (n.*2018+24G>C)
c.610+24G>C
c.383G>C
c.2115+24G>C (n.2115+24G>C)
gnomAD v4
16g.68695947G=CA2229920693CDH3c.2280+24G= (n.2280+24G=)
c.99+24G= (n.99+24G=)
c.*2018+24G= (n.*2018+24G=)
c.610+24G=
c.383G=
c.2115+24G= (n.2115+24G=)
16g.68695949delCA2807468436CDH3c.2280+26del (n.2280+26del)
c.99+26del (n.99+26del)
c.*2018+26del (n.*2018+26del)
c.610+26del
c.385del
c.2115+26del (n.2115+26del)
16g.68695947_68695948insACACA2807468437CDH3c.2280+24_2280+25insACA (n.2280+24_2280+25insACA)
c.99+24_99+25insACA (n.99+24_99+25insACA)
c.*2018+24_*2018+25insACA (n.*2018+24_*2018+25insACA)
c.610+24_610+25insACA
c.383_384insACA
c.2115+24_2115+25insACA (n.2115+24_2115+25insACA)
16g.68695948_68695949insACACA2807468438CDH3c.2280+25_2280+26insACA (n.2280+25_2280+26insACA)
c.99+25_99+26insACA (n.99+25_99+26insACA)
c.*2018+25_*2018+26insACA (n.*2018+25_*2018+26insACA)
c.610+25_610+26insACA
c.384_385insACA
c.2115+25_2115+26insACA (n.2115+25_2115+26insACA)
16g.68695949G>ACA2633928999CDH3c.2280+26G>A (n.2280+26G>A)
c.99+26G>A (n.99+26G>A)
c.*2018+26G>A (n.*2018+26G>A)
c.610+26G>A
c.385G>A
c.2115+26G>A (n.2115+26G>A)
gnomAD v4
16g.68695949_68695951delCA2807468439CDH3c.2280+26_2280+28del (n.2280+26_2280+28del)
c.99+26_99+28del (n.99+26_99+28del)
c.*2018+26_*2018+28del (n.*2018+26_*2018+28del)
c.610+26_610+28del
c.385_387del
c.2115+26_2115+28del (n.2115+26_2115+28del)
16g.68695952_68695967delCA2633928952CDH3c.2280+29_2280+44del (n.2280+29_2280+44del)
c.99+29_99+44del (n.99+29_99+44del)
c.*2018+29_*2018+44del (n.*2018+29_*2018+44del)
c.610+29_610+44del
c.388_403del
c.2115+29_2115+44del (n.2115+29_2115+44del)
gnomAD v4
16g.68695950C>ACA2633929004CDH3c.2280+27C>A (n.2280+27C>A)
c.99+27C>A (n.99+27C>A)
c.*2018+27C>A (n.*2018+27C>A)
c.610+27C>A
c.386C>A
c.2115+27C>A (n.2115+27C>A)
gnomAD v4
16g.68695950C>TCA2633929002CDH3c.2280+27C>T (n.2280+27C>T)
c.99+27C>T (n.99+27C>T)
c.*2018+27C>T (n.*2018+27C>T)
c.610+27C>T
c.386C>T
c.2115+27C>T (n.2115+27C>T)
gnomAD v4
16g.68695951delCA2807468440CDH3c.2280+28del (n.2280+28del)
c.99+28del (n.99+28del)
c.*2018+28del (n.*2018+28del)
c.610+28del
c.387del
c.2115+28del (n.2115+28del)
16g.68695951C>ACA2807468441CDH3c.2280+28C>A (n.2280+28C>A)
c.99+28C>A (n.99+28C>A)
c.*2018+28C>A (n.*2018+28C>A)
c.610+28C>A
c.387C>A
c.2115+28C>A (n.2115+28C>A)
16g.68695951C=CA2229920695CDH3c.2280+28C= (n.2280+28C=)
c.99+28C= (n.99+28C=)
c.*2018+28C= (n.*2018+28C=)
c.610+28C=
c.387C=
c.2115+28C= (n.2115+28C=)
16g.68695951C>GCA8129642CDH3c.2280+28C>G (n.2280+28C>G)
c.99+28C>G (n.99+28C>G)
c.*2018+28C>G (n.*2018+28C>G)
c.610+28C>G
c.387C>G
c.2115+28C>G (n.2115+28C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.68695952A=CA2229920697CDH3c.2280+29A= (n.2280+29A=)
c.99+29A= (n.99+29A=)
c.*2018+29A= (n.*2018+29A=)
c.610+29A=
c.388A=
c.2115+29A= (n.2115+29A=)
16g.68695952A>CCA2229920698CDH3c.2280+29A>C (n.2280+29A>C)
c.99+29A>C (n.99+29A>C)
c.*2018+29A>C (n.*2018+29A>C)
c.610+29A>C
c.388A>C
c.2115+29A>C (n.2115+29A>C)
dbSNP
16g.68695952A>GCA8129643CDH3c.2280+29A>G (n.2280+29A>G)
c.99+29A>G (n.99+29A>G)
c.*2018+29A>G (n.*2018+29A>G)
c.610+29A>G
c.388A>G
c.2115+29A>G (n.2115+29A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.68695953C>ACA2633929013CDH3c.2280+30C>A (n.2280+30C>A)
c.99+30C>A (n.99+30C>A)
c.*2018+30C>A (n.*2018+30C>A)
c.610+30C>A
c.389C>A
c.2115+30C>A (n.2115+30C>A)
gnomAD v4
16g.68695953C=CA2229920700CDH3c.2280+30C= (n.2280+30C=)
c.99+30C= (n.99+30C=)
c.*2018+30C= (n.*2018+30C=)
c.610+30C=
c.389C=
c.2115+30C= (n.2115+30C=)
16g.68695953C>TCA2229920701CDH3c.2280+30C>T (n.2280+30C>T)
c.99+30C>T (n.99+30C>T)
c.*2018+30C>T (n.*2018+30C>T)
c.610+30C>T
c.389C>T
c.2115+30C>T (n.2115+30C>T)
dbSNP
16g.68695954_68695955delCA2807468442CDH3c.2280+31_2280+32del (n.2280+31_2280+32del)
c.99+31_99+32del (n.99+31_99+32del)
c.*2018+31_*2018+32del (n.*2018+31_*2018+32del)
c.610+31_610+32del
c.390_391del
c.2115+31_2115+32del (n.2115+31_2115+32del)
16g.68695954C=CA2229920702CDH3c.2280+31C= (n.2280+31C=)
c.99+31C= (n.99+31C=)
c.*2018+31C= (n.*2018+31C=)
c.610+31C=
c.390C=
c.2115+31C= (n.2115+31C=)
16g.68695954C>TCA2229920703CDH3c.2280+31C>T (n.2280+31C>T)
c.99+31C>T (n.99+31C>T)
c.*2018+31C>T (n.*2018+31C>T)
c.610+31C>T
c.390C>T
c.2115+31C>T (n.2115+31C>T)
dbSNP
16g.68695954_68695958delCA2807468443CDH3c.2280+31_2280+35del (n.2280+31_2280+35del)
c.99+31_99+35del (n.99+31_99+35del)
c.*2018+31_*2018+35del (n.*2018+31_*2018+35del)
c.610+31_610+35del
c.390_394del
c.2115+31_2115+35del (n.2115+31_2115+35del)
16g.68695954_68695955insACA2807468444CDH3c.2280+31_2280+32insA (n.2280+31_2280+32insA)
c.99+31_99+32insA (n.99+31_99+32insA)
c.*2018+31_*2018+32insA (n.*2018+31_*2018+32insA)
c.610+31_610+32insA
c.390_391insA
c.2115+31_2115+32insA (n.2115+31_2115+32insA)
16g.68695954_68695955insAGTCA2807468445CDH3c.2280+31_2280+32insAGT (n.2280+31_2280+32insAGT)
c.99+31_99+32insAGT (n.99+31_99+32insAGT)
c.*2018+31_*2018+32insAGT (n.*2018+31_*2018+32insAGT)
c.610+31_610+32insAGT
c.390_391insAGT
c.2115+31_2115+32insAGT (n.2115+31_2115+32insAGT)
16g.68695955C=CA2229920704CDH3c.2280+32C= (n.2280+32C=)
c.99+32C= (n.99+32C=)
c.*2018+32C= (n.*2018+32C=)
c.610+32C=
c.391C=
c.2115+32C= (n.2115+32C=)
16g.68695955C>GCA2229920705CDH3c.2280+32C>G (n.2280+32C>G)
c.99+32C>G (n.99+32C>G)
c.*2018+32C>G (n.*2018+32C>G)
c.610+32C>G
c.391C>G
c.2115+32C>G (n.2115+32C>G)
dbSNP gnomAD v3 gnomAD v4
16g.68695956T>ACA2807468448CDH3c.2280+33T>A (n.2280+33T>A)
c.99+33T>A (n.99+33T>A)
c.*2018+33T>A (n.*2018+33T>A)
c.610+33T>A
c.392T>A
c.2115+33T>A (n.2115+33T>A)
16g.68695956T>CCA2576038531CDH3c.2280+33T>C (n.2280+33T>C)
c.99+33T>C (n.99+33T>C)
c.*2018+33T>C (n.*2018+33T>C)
c.610+33T>C
c.392T>C
c.2115+33T>C (n.2115+33T>C)
16g.68695958delCA2807468446CDH3c.2280+35del (n.2280+35del)
c.99+35del (n.99+35del)
c.*2018+35del (n.*2018+35del)
c.610+35del
c.394del
c.2115+35del (n.2115+35del)
16g.68695957_68695958delCA2807468447CDH3c.2280+34_2280+35del (n.2280+34_2280+35del)
c.99+34_99+35del (n.99+34_99+35del)
c.*2018+34_*2018+35del (n.*2018+34_*2018+35del)
c.610+34_610+35del
c.393_394del
c.2115+34_2115+35del (n.2115+34_2115+35del)
16g.68695956_68695957insACA2807468449CDH3c.2280+33_2280+34insA (n.2280+33_2280+34insA)
c.99+33_99+34insA (n.99+33_99+34insA)
c.*2018+33_*2018+34insA (n.*2018+33_*2018+34insA)
c.610+33_610+34insA
c.392_393insA
c.2115+33_2115+34insA (n.2115+33_2115+34insA)
16g.68695956_68695957insACCA2807468450CDH3c.2280+33_2280+34insAC (n.2280+33_2280+34insAC)
c.99+33_99+34insAC (n.99+33_99+34insAC)
c.*2018+33_*2018+34insAC (n.*2018+33_*2018+34insAC)
c.610+33_610+34insAC
c.392_393insAC
c.2115+33_2115+34insAC (n.2115+33_2115+34insAC)
16g.68695956_68695957insAGTCCA2807468451CDH3c.2280+33_2280+34insAGTC (n.2280+33_2280+34insAGTC)
c.99+33_99+34insAGTC (n.99+33_99+34insAGTC)
c.*2018+33_*2018+34insAGTC (n.*2018+33_*2018+34insAGTC)
c.610+33_610+34insAGTC
c.392_393insAGTC
c.2115+33_2115+34insAGTC (n.2115+33_2115+34insAGTC)
16g.68695957T>GCA2807468452CDH3c.2280+34T>G (n.2280+34T>G)
c.99+34T>G (n.99+34T>G)
c.*2018+34T>G (n.*2018+34T>G)
c.610+34T>G
c.393T>G
c.2115+34T>G (n.2115+34T>G)
16g.68695957_68695958insAGCA2807468453CDH3c.2280+34_2280+35insAG (n.2280+34_2280+35insAG)
c.99+34_99+35insAG (n.99+34_99+35insAG)
c.*2018+34_*2018+35insAG (n.*2018+34_*2018+35insAG)
c.610+34_610+35insAG
c.393_394insAG
c.2115+34_2115+35insAG (n.2115+34_2115+35insAG)
16g.68695959_68695960insCCA2807468456CDH3c.2280+36_2280+37insC (n.2280+36_2280+37insC)
c.99+36_99+37insC (n.99+36_99+37insC)
c.*2018+36_*2018+37insC (n.*2018+36_*2018+37insC)
c.610+36_610+37insC
c.395_396insC
c.2115+36_2115+37insC (n.2115+36_2115+37insC)
16g.68695960T>CCA2633929015CDH3c.2280+37T>C (n.2280+37T>C)
c.99+37T>C (n.99+37T>C)
c.*2018+37T>C (n.*2018+37T>C)
c.610+37T>C
c.396T>C
c.2115+37T>C (n.2115+37T>C)
gnomAD v4
16g.68695960T>GCA2807468455CDH3c.2280+37T>G (n.2280+37T>G)
c.99+37T>G (n.99+37T>G)
c.*2018+37T>G (n.*2018+37T>G)
c.610+37T>G
c.396T>G
c.2115+37T>G (n.2115+37T>G)
16g.68695960_68695961delCA2807468454CDH3c.2280+37_2280+38del (n.2280+37_2280+38del)
c.99+37_99+38del (n.99+37_99+38del)
c.*2018+37_*2018+38del (n.*2018+37_*2018+38del)
c.610+37_610+38del
c.396_397del
c.2115+37_2115+38del (n.2115+37_2115+38del)
16g.68695960_68695961insAGCA2807468458CDH3c.2280+37_2280+38insAG (n.2280+37_2280+38insAG)
c.99+37_99+38insAG (n.99+37_99+38insAG)
c.*2018+37_*2018+38insAG (n.*2018+37_*2018+38insAG)
c.610+37_610+38insAG
c.396_397insAG
c.2115+37_2115+38insAG (n.2115+37_2115+38insAG)
16g.68695961T>ACA2807468457CDH3c.2280+38T>A (n.2280+38T>A)
c.99+38T>A (n.99+38T>A)
c.*2018+38T>A (n.*2018+38T>A)
c.610+38T>A
c.397T>A
c.2115+38T>A (n.2115+38T>A)
16g.68695961_68695962insACA2807468459CDH3c.2280+38_2280+39insA (n.2280+38_2280+39insA)
c.99+38_99+39insA (n.99+38_99+39insA)
c.*2018+38_*2018+39insA (n.*2018+38_*2018+39insA)
c.610+38_610+39insA
c.397_398insA
c.2115+38_2115+39insA (n.2115+38_2115+39insA)
16g.68695962C>ACA2229920708CDH3c.2280+39C>A (n.2280+39C>A)
c.99+39C>A (n.99+39C>A)
c.*2018+39C>A (n.*2018+39C>A)
c.610+39C>A
c.398C>A
c.2115+39C>A (n.2115+39C>A)
dbSNP
16g.68695962C=CA2229920707CDH3c.2280+39C= (n.2280+39C=)
c.99+39C= (n.99+39C=)
c.*2018+39C= (n.*2018+39C=)
c.610+39C=
c.398C=
c.2115+39C= (n.2115+39C=)
16g.68695962C>GCA2741495359CDH3c.2280+39C>G (n.2280+39C>G)
c.99+39C>G (n.99+39C>G)
c.*2018+39C>G (n.*2018+39C>G)
c.610+39C>G
c.398C>G
c.2115+39C>G (n.2115+39C>G)
16g.68695962C>TCA623143695CDH3c.2280+39C>T (n.2280+39C>T)
c.99+39C>T (n.99+39C>T)
c.*2018+39C>T (n.*2018+39C>T)
c.610+39C>T
c.398C>T
c.2115+39C>T (n.2115+39C>T)
dbSNP gnomAD v2
16g.68695963_68695964insTACA2807468460CDH3c.2280+40_2280+41insTA (n.2280+40_2280+41insTA)
c.99+40_99+41insTA (n.99+40_99+41insTA)
c.*2018+40_*2018+41insTA (n.*2018+40_*2018+41insTA)
c.610+40_610+41insTA
c.399_400insTA
c.2115+40_2115+41insTA (n.2115+40_2115+41insTA)
16g.68695968_68695978delCA2807468461CDH3c.2280+45_2280+55del (n.2280+45_2280+55del)
c.99+45_99+55del (n.99+45_99+55del)
c.*2018+45_*2018+55del (n.*2018+45_*2018+55del)
c.610+45_610+55del
c.404_414del
c.2115+45_2115+55del (n.2115+45_2115+55del)
16g.68695965G>ACA2633929020CDH3c.2280+42G>A (n.2280+42G>A)
c.99+42G>A (n.99+42G>A)
c.*2018+42G>A (n.*2018+42G>A)
c.610+42G>A
c.401G>A
c.2115+42G>A (n.2115+42G>A)
gnomAD v4
16g.68695965G>TCA2542399656CDH3c.2280+42G>T (n.2280+42G>T)
c.99+42G>T (n.99+42G>T)
c.*2018+42G>T (n.*2018+42G>T)
c.610+42G>T
c.401G>T
c.2115+42G>T (n.2115+42G>T)
gnomAD v4
16g.68695966C>ACA2633929024CDH3c.2280+43C>A (n.2280+43C>A)
c.99+43C>A (n.99+43C>A)
c.*2018+43C>A (n.*2018+43C>A)
c.610+43C>A
c.402C>A
c.2115+43C>A (n.2115+43C>A)
gnomAD v4
16g.68695966C>TCA2633929025CDH3c.2280+43C>T (n.2280+43C>T)
c.99+43C>T (n.99+43C>T)
c.*2018+43C>T (n.*2018+43C>T)
c.610+43C>T
c.402C>T
c.2115+43C>T (n.2115+43C>T)
gnomAD v4
16g.68695968delCA2633929023CDH3c.2280+45del (n.2280+45del)
c.99+45del (n.99+45del)
c.*2018+45del (n.*2018+45del)
c.610+45del
c.404del
c.2115+45del (n.2115+45del)
gnomAD v4
16g.68695967C>ACA2229920710CDH3c.2280+44C>A (n.2280+44C>A)
c.99+44C>A (n.99+44C>A)
c.*2018+44C>A (n.*2018+44C>A)
c.610+44C>A
c.403C>A
c.2115+44C>A (n.2115+44C>A)
dbSNP gnomAD v4
16g.68695967C=CA2229920709CDH3c.2280+44C= (n.2280+44C=)
c.99+44C= (n.99+44C=)
c.*2018+44C= (n.*2018+44C=)
c.610+44C=
c.403C=
c.2115+44C= (n.2115+44C=)
16g.68695967C>GCA2633929029CDH3c.2280+44C>G (n.2280+44C>G)
c.99+44C>G (n.99+44C>G)
c.*2018+44C>G (n.*2018+44C>G)
c.610+44C>G
c.403C>G
c.2115+44C>G (n.2115+44C>G)
gnomAD v4
16g.68695967C>TCA2633929030CDH3c.2280+44C>T (n.2280+44C>T)
c.99+44C>T (n.99+44C>T)
c.*2018+44C>T (n.*2018+44C>T)
c.610+44C>T
c.403C>T
c.2115+44C>T (n.2115+44C>T)
gnomAD v4
16g.68695967_68695968insACA2807468462CDH3c.2280+44_2280+45insA (n.2280+44_2280+45insA)
c.99+44_99+45insA (n.99+44_99+45insA)
c.*2018+44_*2018+45insA (n.*2018+44_*2018+45insA)
c.610+44_610+45insA
c.403_404insA
c.2115+44_2115+45insA (n.2115+44_2115+45insA)
16g.68695968C>ACA2633929032CDH3c.2280+45C>A (n.2280+45C>A)
c.99+45C>A (n.99+45C>A)
c.*2018+45C>A (n.*2018+45C>A)
c.610+45C>A
c.404C>A
c.2115+45C>A (n.2115+45C>A)
gnomAD v4
16g.68695968C=CA2229920711CDH3c.2280+45C= (n.2280+45C=)
c.99+45C= (n.99+45C=)
c.*2018+45C= (n.*2018+45C=)
c.610+45C=
c.404C=
c.2115+45C= (n.2115+45C=)
16g.68695968C>TCA283289622CDH3c.2280+45C>T (n.2280+45C>T)
c.99+45C>T (n.99+45C>T)
c.*2018+45C>T (n.*2018+45C>T)
c.610+45C>T
c.404C>T
c.2115+45C>T (n.2115+45C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.68695968_68695969insTTCA2807468463CDH3c.2280+45_2280+46insTT (n.2280+45_2280+46insTT)
c.99+45_99+46insTT (n.99+45_99+46insTT)
c.*2018+45_*2018+46insTT (n.*2018+45_*2018+46insTT)
c.610+45_610+46insTT
c.404_405insTT
c.2115+45_2115+46insTT (n.2115+45_2115+46insTT)
16g.68695969delCA2807468464CDH3c.2280+46del (n.2280+46del)
c.99+46del (n.99+46del)
c.*2018+46del (n.*2018+46del)
c.610+46del
c.405del
c.2115+46del (n.2115+46del)
16g.68695970G>ACA2633929035CDH3c.2280+47G>A (n.2280+47G>A)
c.99+47G>A (n.99+47G>A)
c.*2018+47G>A (n.*2018+47G>A)
c.610+47G>A
c.406G>A
c.2115+47G>A (n.2115+47G>A)
gnomAD v4
16g.68695970G>TCA2633929036CDH3c.2280+47G>T (n.2280+47G>T)
c.99+47G>T (n.99+47G>T)
c.*2018+47G>T (n.*2018+47G>T)
c.610+47G>T
c.406G>T
c.2115+47G>T (n.2115+47G>T)
gnomAD v4
16g.68695970_68695971insACA2807468465CDH3c.2280+47_2280+48insA (n.2280+47_2280+48insA)
c.99+47_99+48insA (n.99+47_99+48insA)
c.*2018+47_*2018+48insA (n.*2018+47_*2018+48insA)
c.610+47_610+48insA
c.406_407insA
c.2115+47_2115+48insA (n.2115+47_2115+48insA)
16g.68695971delCA2807468466CDH3c.2280+48del (n.2280+48del)
c.99+48del (n.99+48del)
c.*2018+48del (n.*2018+48del)
c.610+48del
c.407del
c.2115+48del (n.2115+48del)
16g.68695971C>ACA2633929037CDH3c.2280+48C>A (n.2280+48C>A)
c.99+48C>A (n.99+48C>A)
c.*2018+48C>A (n.*2018+48C>A)
c.610+48C>A
c.407C>A
c.2115+48C>A (n.2115+48C>A)
gnomAD v4
16g.68695971C>TCA2557442941CDH3c.2280+48C>T (n.2280+48C>T)
c.99+48C>T (n.99+48C>T)
c.*2018+48C>T (n.*2018+48C>T)
c.610+48C>T
c.407C>T
c.2115+48C>T (n.2115+48C>T)
gnomAD v4
16g.68695971_68695972insTTCA2807468467CDH3c.2280+48_2280+49insTT (n.2280+48_2280+49insTT)
c.99+48_99+49insTT (n.99+48_99+49insTT)
c.*2018+48_*2018+49insTT (n.*2018+48_*2018+49insTT)
c.610+48_610+49insTT
c.407_408insTT
c.2115+48_2115+49insTT (n.2115+48_2115+49insTT)
16g.68695972A=CA2229920713CDH3c.2280+49A= (n.2280+49A=)
c.99+49A= (n.99+49A=)
c.*2018+49A= (n.*2018+49A=)
c.610+49A=
c.408A=
c.2115+49A= (n.2115+49A=)
16g.68695972A>CCA8129644CDH3c.2280+49A>C (n.2280+49A>C)
c.99+49A>C (n.99+49A>C)
c.*2018+49A>C (n.*2018+49A>C)
c.610+49A>C
c.408A>C
c.2115+49A>C (n.2115+49A>C)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.68695972A>GCA2633929041CDH3c.2280+49A>G (n.2280+49A>G)
c.99+49A>G (n.99+49A>G)
c.*2018+49A>G (n.*2018+49A>G)
c.610+49A>G
c.408A>G
c.2115+49A>G (n.2115+49A>G)
gnomAD v4
16g.68695972A>TCA2229920714CDH3c.2280+49A>T (n.2280+49A>T)
c.99+49A>T (n.99+49A>T)
c.*2018+49A>T (n.*2018+49A>T)
c.610+49A>T
c.408A>T
c.2115+49A>T (n.2115+49A>T)
dbSNP gnomAD v4
16g.68695973C>ACA2633929044CDH3c.2280+50C>A (n.2280+50C>A)
c.99+50C>A (n.99+50C>A)
c.*2018+50C>A (n.*2018+50C>A)
c.610+50C>A
c.409C>A
c.2115+50C>A (n.2115+50C>A)
gnomAD v4
16g.68695973C>GCA2633929045CDH3c.2280+50C>G (n.2280+50C>G)
c.99+50C>G (n.99+50C>G)
c.*2018+50C>G (n.*2018+50C>G)
c.610+50C>G
c.409C>G
c.2115+50C>G (n.2115+50C>G)
gnomAD v4
16g.68695974delCA2576038532CDH3c.2280+51del (n.2280+51del)
c.99+51del (n.99+51del)
c.*2018+51del (n.*2018+51del)
c.610+51del
c.410del
c.2115+51del (n.2115+51del)
gnomAD v4
16g.68695974C>ACA2633929047CDH3c.2280+51C>A (n.2280+51C>A)
c.99+51C>A (n.99+51C>A)
c.*2018+51C>A (n.*2018+51C>A)
c.610+51C>A
c.410C>A
c.2115+51C>A (n.2115+51C>A)
gnomAD v4
16g.68695975A=CA2229920716CDH3c.2280+52A= (n.2280+52A=)
c.99+52A= (n.99+52A=)
c.*2018+52A= (n.*2018+52A=)
c.610+52A=
c.411A=
c.2115+52A= (n.2115+52A=)
16g.68695975A>GCA623143696CDH3c.2280+52A>G (n.2280+52A>G)
c.99+52A>G (n.99+52A>G)
c.*2018+52A>G (n.*2018+52A>G)
c.610+52A>G
c.411A>G
c.2115+52A>G (n.2115+52A>G)
dbSNP gnomAD v2 gnomAD v4
16g.68695976G>ACA2633929050CDH3c.2280+53G>A (n.2280+53G>A)
c.99+53G>A (n.99+53G>A)
c.*2018+53G>A (n.*2018+53G>A)
c.610+53G>A
c.412G>A
c.2115+53G>A (n.2115+53G>A)
gnomAD v4
16g.68695976G>TCA2633929052CDH3c.2280+53G>T (n.2280+53G>T)
c.99+53G>T (n.99+53G>T)
c.*2018+53G>T (n.*2018+53G>T)
c.610+53G>T
c.412G>T
c.2115+53G>T (n.2115+53G>T)
gnomAD v4
16g.68695977C>ACA2633929056CDH3c.2280+54C>A (n.2280+54C>A)
c.99+54C>A (n.99+54C>A)
c.*2018+54C>A (n.*2018+54C>A)
c.610+54C>A
c.413C>A
c.2115+54C>A (n.2115+54C>A)
gnomAD v4
16g.68695978delCA2807468468CDH3c.2280+55del (n.2280+55del)
c.99+55del (n.99+55del)
c.*2018+55del (n.*2018+55del)
c.610+55del
c.414del
c.2115+55del (n.2115+55del)
16g.68695977_68695979delinsCCACA2229920718CDH3c.2280+54_2280+56delinsCCA (n.2280+54_2280+56delinsCCA)
c.99+54_99+56delinsCCA (n.99+54_99+56delinsCCA)
c.*2018+54_*2018+56delinsCCA (n.*2018+54_*2018+56delinsCCA)
c.610+54_610+56delinsCCA
c.413_415delinsCCA
c.2115+54_2115+56delinsCCA (n.2115+54_2115+56delinsCCA)
16g.68695978_68695980delCA2807468469CDH3c.2280+55_2280+57del (n.2280+55_2280+57del)
c.99+55_99+57del (n.99+55_99+57del)
c.*2018+55_*2018+57del (n.*2018+55_*2018+57del)
c.610+55_610+57del
c.414_416del
c.2115+55_2115+57del (n.2115+55_2115+57del)
16g.68695978C>ACA8129645CDH3c.2280+55C>A (n.2280+55C>A)
c.99+55C>A (n.99+55C>A)
c.*2018+55C>A (n.*2018+55C>A)
c.610+55C>A
c.414C>A
c.2115+55C>A (n.2115+55C>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.68695978C=CA2229920720CDH3c.2280+55C= (n.2280+55C=)
c.99+55C= (n.99+55C=)
c.*2018+55C= (n.*2018+55C=)
c.610+55C=
c.414C=
c.2115+55C= (n.2115+55C=)
16g.68695978C>TCA2576038534CDH3c.2280+55C>T (n.2280+55C>T)
c.99+55C>T (n.99+55C>T)
c.*2018+55C>T (n.*2018+55C>T)
c.610+55C>T
c.414C>T
c.2115+55C>T (n.2115+55C>T)
gnomAD v4
16g.68695982_68695983delCA919731707CDH3c.2280+59_2280+60del (n.2280+59_2280+60del)
c.99+59_99+60del (n.99+59_99+60del)
c.*2018+59_*2018+60del (n.*2018+59_*2018+60del)
c.610+59_610+60del
c.418_419del
c.2115+59_2115+60del (n.2115+59_2115+60del)
dbSNP
16g.68695979_68695980insAGTCA2807468470CDH3c.2280+56_2280+57insAGT (n.2280+56_2280+57insAGT)
c.99+56_99+57insAGT (n.99+56_99+57insAGT)
c.*2018+56_*2018+57insAGT (n.*2018+56_*2018+57insAGT)
c.610+56_610+57insAGT
c.415_416insAGT
c.2115+56_2115+57insAGT (n.2115+56_2115+57insAGT)
16g.68695979_68695980insGAGCA2807468471CDH3c.2280+56_2280+57insGAG (n.2280+56_2280+57insGAG)
c.99+56_99+57insGAG (n.99+56_99+57insGAG)
c.*2018+56_*2018+57insGAG (n.*2018+56_*2018+57insGAG)
c.610+56_610+57insGAG
c.415_416insGAG
c.2115+56_2115+57insGAG (n.2115+56_2115+57insGAG)
16g.68695980C=CA2229920723CDH3c.2280+57C= (n.2280+57C=)
c.99+57C= (n.99+57C=)
c.*2018+57C= (n.*2018+57C=)
c.610+57C=
c.416C=
c.2115+57C= (n.2115+57C=)
16g.68695980C>TCA8129646CDH3c.2280+57C>T (n.2280+57C>T)
c.99+57C>T (n.99+57C>T)
c.*2018+57C>T (n.*2018+57C>T)
c.610+57C>T
c.416C>T
c.2115+57C>T (n.2115+57C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.68695982C>ACA2576038536CDH3c.2280+59C>A (n.2280+59C>A)
c.99+59C>A (n.99+59C>A)
c.*2018+59C>A (n.*2018+59C>A)
c.610+59C>A
c.418C>A
c.2115+59C>A (n.2115+59C>A)
gnomAD v4
16g.68695982C>TCA2633929068CDH3c.2280+59C>T (n.2280+59C>T)
c.99+59C>T (n.99+59C>T)
c.*2018+59C>T (n.*2018+59C>T)
c.610+59C>T
c.418C>T
c.2115+59C>T (n.2115+59C>T)
gnomAD v4

Number of alleles fetched