Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.115753239_115753241delCA2700388654DPP10c.1016_1018del (p.Arg339_Ala340delinsPro)
c.995_997del (p.Arg332_Ala333delinsPro)
c.1028_1030del (p.Arg343_Ala344delinsPro)
c.866_868del (p.Arg289_Ala290delinsPro)
c.1004_1006del (p.Arg335_Ala336delinsPro)
c.764_766del (p.Arg255_Ala256delinsPro)
n.67+1494_67+1496del
c.1067_1069del (p.Arg356_Ala357delinsPro)
c.926_928del (p.Arg309_Ala310delinsPro)
c.899_901del (p.Arg300_Ala301delinsPro)
c.254_256del (p.Arg85_Ala86delinsPro)
c.893_895del (p.Arg298_Ala299delinsPro)
dbSNP
2g.115753241G>ACA348323516DPP10c.1018G>A (p.Ala340Thr)
c.997G>A (p.Ala333Thr)
c.1030G>A (p.Ala344Thr)
c.868G>A (p.Ala290Thr)
c.1006G>A (p.Ala336Thr)
c.766G>A (p.Ala256Thr)
n.67+1494C>T
c.1069G>A (p.Ala357Thr)
c.928G>A (p.Ala310Thr)
c.901G>A (p.Ala301Thr)
c.256G>A (p.Ala86Thr)
c.895G>A (p.Ala299Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.115753241G>CCA1843063DPP10c.1018G>C (p.Ala340Pro)
c.997G>C (p.Ala333Pro)
c.1030G>C (p.Ala344Pro)
c.868G>C (p.Ala290Pro)
c.1006G>C (p.Ala336Pro)
c.766G>C (p.Ala256Pro)
n.67+1494C>G
c.1069G>C (p.Ala357Pro)
c.928G>C (p.Ala310Pro)
c.901G>C (p.Ala301Pro)
c.256G>C (p.Ala86Pro)
c.895G>C (p.Ala299Pro)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.115753241G=CA1281312535DPP10c.1018G= (p.Ala340=)
c.997G= (p.Ala333=)
c.1030G= (p.Ala344=)
c.868G= (p.Ala290=)
c.1006G= (p.Ala336=)
c.766G= (p.Ala256=)
n.67+1494C=
c.1069G= (p.Ala357=)
c.928G= (p.Ala310=)
c.901G= (p.Ala301=)
c.256G= (p.Ala86=)
c.895G= (p.Ala299=)
2g.115753241G>TCA348323517DPP10c.1018G>T (p.Ala340Ser)
c.997G>T (p.Ala333Ser)
c.1030G>T (p.Ala344Ser)
c.868G>T (p.Ala290Ser)
c.1006G>T (p.Ala336Ser)
c.766G>T (p.Ala256Ser)
n.67+1494C>A
c.1069G>T (p.Ala357Ser)
c.928G>T (p.Ala310Ser)
c.901G>T (p.Ala301Ser)
c.256G>T (p.Ala86Ser)
c.895G>T (p.Ala299Ser)
dbSNP gnomAD v2 gnomAD v4
2g.115753242C>ACA348323518DPP10c.1019C>A (p.Ala340Asp)
c.998C>A (p.Ala333Asp)
c.1031C>A (p.Ala344Asp)
c.869C>A (p.Ala290Asp)
c.1007C>A (p.Ala336Asp)
c.767C>A (p.Ala256Asp)
n.67+1493G>T
c.1070C>A (p.Ala357Asp)
c.929C>A (p.Ala310Asp)
c.902C>A (p.Ala301Asp)
c.257C>A (p.Ala86Asp)
c.896C>A (p.Ala299Asp)
2g.115753242C>GCA348323519DPP10c.1019C>G (p.Ala340Gly)
c.998C>G (p.Ala333Gly)
c.1031C>G (p.Ala344Gly)
c.869C>G (p.Ala290Gly)
c.1007C>G (p.Ala336Gly)
c.767C>G (p.Ala256Gly)
n.67+1493G>C
c.1070C>G (p.Ala357Gly)
c.929C>G (p.Ala310Gly)
c.902C>G (p.Ala301Gly)
c.257C>G (p.Ala86Gly)
c.896C>G (p.Ala299Gly)
gnomAD v4
2g.115753242C>TCA348323520DPP10c.1019C>T (p.Ala340Val)
c.998C>T (p.Ala333Val)
c.1031C>T (p.Ala344Val)
c.869C>T (p.Ala290Val)
c.1007C>T (p.Ala336Val)
c.767C>T (p.Ala256Val)
n.67+1493G>A
c.1070C>T (p.Ala357Val)
c.929C>T (p.Ala310Val)
c.902C>T (p.Ala301Val)
c.257C>T (p.Ala86Val)
c.896C>T (p.Ala299Val)
gnomAD v4
2g.115753242_115753250delCA2660826735DPP10c.1019_1027del (p.Ala340_Ile343delinsVal)
c.998_1006del (p.Ala333_Ile336delinsVal)
c.1031_1039del (p.Ala344_Ile347delinsVal)
c.869_877del (p.Ala290_Ile293delinsVal)
c.1007_1015del (p.Ala336_Ile339delinsVal)
c.767_775del (p.Ala256_Ile259delinsVal)
n.67+1485_67+1493del
c.1070_1078del (p.Ala357_Ile360delinsVal)
c.929_937del (p.Ala310_Ile313delinsVal)
c.902_910del (p.Ala301_Ile304delinsVal)
c.257_265del (p.Ala86_Ile89delinsVal)
c.896_904del (p.Ala299_Ile302delinsVal)
gnomAD v4
2g.115753243T>ACA428355019DPP10c.1020T>A (p.Ala340=)
c.999T>A (p.Ala333=)
c.1032T>A (p.Ala344=)
c.870T>A (p.Ala290=)
c.1008T>A (p.Ala336=)
c.768T>A (p.Ala256=)
n.67+1492A>T
c.1071T>A (p.Ala357=)
c.930T>A (p.Ala310=)
c.903T>A (p.Ala301=)
c.258T>A (p.Ala86=)
c.897T>A (p.Ala299=)
2g.115753243T>CCA428355018DPP10c.1020T>C (p.Ala340=)
c.999T>C (p.Ala333=)
c.1032T>C (p.Ala344=)
c.870T>C (p.Ala290=)
c.1008T>C (p.Ala336=)
c.768T>C (p.Ala256=)
n.67+1492A>G
c.1071T>C (p.Ala357=)
c.930T>C (p.Ala310=)
c.903T>C (p.Ala301=)
c.258T>C (p.Ala86=)
c.897T>C (p.Ala299=)
2g.115753243T>GCA1843064DPP10c.1020T>G (p.Ala340=)
c.999T>G (p.Ala333=)
c.1032T>G (p.Ala344=)
c.870T>G (p.Ala290=)
c.1008T>G (p.Ala336=)
c.768T>G (p.Ala256=)
n.67+1492A>C
c.1071T>G (p.Ala357=)
c.930T>G (p.Ala310=)
c.903T>G (p.Ala301=)
c.258T>G (p.Ala86=)
c.897T>G (p.Ala299=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.115753243T=CA1281312536DPP10c.1020T= (p.Ala340=)
c.999T= (p.Ala333=)
c.1032T= (p.Ala344=)
c.870T= (p.Ala290=)
c.1008T= (p.Ala336=)
c.768T= (p.Ala256=)
n.67+1492A=
c.1071T= (p.Ala357=)
c.930T= (p.Ala310=)
c.903T= (p.Ala301=)
c.258T= (p.Ala86=)
c.897T= (p.Ala299=)
2g.115753244C>ACA348323521DPP10c.1021C>A (p.Gln341Lys)
c.1000C>A (p.Gln334Lys)
c.1033C>A (p.Gln345Lys)
c.871C>A (p.Gln291Lys)
c.1009C>A (p.Gln337Lys)
c.769C>A (p.Gln257Lys)
n.67+1491G>T
c.1072C>A (p.Gln358Lys)
c.931C>A (p.Gln311Lys)
c.904C>A (p.Gln302Lys)
c.259C>A (p.Gln87Lys)
c.898C>A (p.Gln300Lys)
COSMIC COSMIC
2g.115753244C>GCA348323522DPP10c.1021C>G (p.Gln341Glu)
c.1000C>G (p.Gln334Glu)
c.1033C>G (p.Gln345Glu)
c.871C>G (p.Gln291Glu)
c.1009C>G (p.Gln337Glu)
c.769C>G (p.Gln257Glu)
n.67+1491G>C
c.1072C>G (p.Gln358Glu)
c.931C>G (p.Gln311Glu)
c.904C>G (p.Gln302Glu)
c.259C>G (p.Gln87Glu)
c.898C>G (p.Gln300Glu)
2g.115753244C>TCA348323523DPP10c.1021C>T (p.Gln341Ter)
c.1000C>T (p.Gln334Ter)
c.1033C>T (p.Gln345Ter)
c.871C>T (p.Gln291Ter)
c.1009C>T (p.Gln337Ter)
c.769C>T (p.Gln257Ter)
n.67+1491G>A
c.1072C>T (p.Gln358Ter)
c.931C>T (p.Gln311Ter)
c.904C>T (p.Gln302Ter)
c.259C>T (p.Gln87Ter)
c.898C>T (p.Gln300Ter)
2g.115753245A>CCA348323525DPP10c.1022A>C (p.Gln341Pro)
c.1001A>C (p.Gln334Pro)
c.1034A>C (p.Gln345Pro)
c.872A>C (p.Gln291Pro)
c.1010A>C (p.Gln337Pro)
c.770A>C (p.Gln257Pro)
n.67+1490T>G
c.1073A>C (p.Gln358Pro)
c.932A>C (p.Gln311Pro)
c.905A>C (p.Gln302Pro)
c.260A>C (p.Gln87Pro)
c.899A>C (p.Gln300Pro)
2g.115753245A>GCA348323526DPP10c.1022A>G (p.Gln341Arg)
c.1001A>G (p.Gln334Arg)
c.1034A>G (p.Gln345Arg)
c.872A>G (p.Gln291Arg)
c.1010A>G (p.Gln337Arg)
c.770A>G (p.Gln257Arg)
n.67+1490T>C
c.1073A>G (p.Gln358Arg)
c.932A>G (p.Gln311Arg)
c.905A>G (p.Gln302Arg)
c.260A>G (p.Gln87Arg)
c.899A>G (p.Gln300Arg)
2g.115753245A>TCA348323524DPP10c.1022A>T (p.Gln341Leu)
c.1001A>T (p.Gln334Leu)
c.1034A>T (p.Gln345Leu)
c.872A>T (p.Gln291Leu)
c.1010A>T (p.Gln337Leu)
c.770A>T (p.Gln257Leu)
n.67+1490T>A
c.1073A>T (p.Gln358Leu)
c.932A>T (p.Gln311Leu)
c.905A>T (p.Gln302Leu)
c.260A>T (p.Gln87Leu)
c.899A>T (p.Gln300Leu)
2g.115753246G>ACA428355051DPP10c.1023G>A (p.Gln341=)
c.1002G>A (p.Gln334=)
c.1035G>A (p.Gln345=)
c.873G>A (p.Gln291=)
c.1011G>A (p.Gln337=)
c.771G>A (p.Gln257=)
n.67+1489C>T
c.1074G>A (p.Gln358=)
c.933G>A (p.Gln311=)
c.906G>A (p.Gln302=)
c.261G>A (p.Gln87=)
c.900G>A (p.Gln300=)
gnomAD v4
2g.115753246G>CCA348323527DPP10c.1023G>C (p.Gln341His)
c.1002G>C (p.Gln334His)
c.1035G>C (p.Gln345His)
c.873G>C (p.Gln291His)
c.1011G>C (p.Gln337His)
c.771G>C (p.Gln257His)
n.67+1489C>G
c.1074G>C (p.Gln358His)
c.933G>C (p.Gln311His)
c.906G>C (p.Gln302His)
c.261G>C (p.Gln87His)
c.900G>C (p.Gln300His)
gnomAD v4
2g.115753246G>TCA348323528DPP10c.1023G>T (p.Gln341His)
c.1002G>T (p.Gln334His)
c.1035G>T (p.Gln345His)
c.873G>T (p.Gln291His)
c.1011G>T (p.Gln337His)
c.771G>T (p.Gln257His)
n.67+1489C>A
c.1074G>T (p.Gln358His)
c.933G>T (p.Gln311His)
c.906G>T (p.Gln302His)
c.261G>T (p.Gln87His)
c.900G>T (p.Gln300His)
gnomAD v4
2g.115753247A>CCA348323529DPP10c.1024A>C (p.Asn342His)
c.1003A>C (p.Asn335His)
c.1036A>C (p.Asn346His)
c.874A>C (p.Asn292His)
c.1012A>C (p.Asn338His)
c.772A>C (p.Asn258His)
n.67+1488T>G
c.1075A>C (p.Asn359His)
c.934A>C (p.Asn312His)
c.907A>C (p.Asn303His)
c.262A>C (p.Asn88His)
c.901A>C (p.Asn301His)
2g.115753247A>GCA348323530DPP10c.1024A>G (p.Asn342Asp)
c.1003A>G (p.Asn335Asp)
c.1036A>G (p.Asn346Asp)
c.874A>G (p.Asn292Asp)
c.1012A>G (p.Asn338Asp)
c.772A>G (p.Asn258Asp)
n.67+1488T>C
c.1075A>G (p.Asn359Asp)
c.934A>G (p.Asn312Asp)
c.907A>G (p.Asn303Asp)
c.262A>G (p.Asn88Asp)
c.901A>G (p.Asn301Asp)
gnomAD v4
2g.115753247A>TCA348323531DPP10c.1024A>T (p.Asn342Tyr)
c.1003A>T (p.Asn335Tyr)
c.1036A>T (p.Asn346Tyr)
c.874A>T (p.Asn292Tyr)
c.1012A>T (p.Asn338Tyr)
c.772A>T (p.Asn258Tyr)
n.67+1488T>A
c.1075A>T (p.Asn359Tyr)
c.934A>T (p.Asn312Tyr)
c.907A>T (p.Asn303Tyr)
c.262A>T (p.Asn88Tyr)
c.901A>T (p.Asn301Tyr)
dbSNP
2g.115753248A>CCA348323534DPP10c.1025A>C (p.Asn342Thr)
c.1004A>C (p.Asn335Thr)
c.1037A>C (p.Asn346Thr)
c.875A>C (p.Asn292Thr)
c.1013A>C (p.Asn338Thr)
c.773A>C (p.Asn258Thr)
n.67+1487T>G
c.1076A>C (p.Asn359Thr)
c.935A>C (p.Asn312Thr)
c.908A>C (p.Asn303Thr)
c.263A>C (p.Asn88Thr)
c.902A>C (p.Asn301Thr)
2g.115753248A>GCA348323532DPP10c.1025A>G (p.Asn342Ser)
c.1004A>G (p.Asn335Ser)
c.1037A>G (p.Asn346Ser)
c.875A>G (p.Asn292Ser)
c.1013A>G (p.Asn338Ser)
c.773A>G (p.Asn258Ser)
n.67+1487T>C
c.1076A>G (p.Asn359Ser)
c.935A>G (p.Asn312Ser)
c.908A>G (p.Asn303Ser)
c.263A>G (p.Asn88Ser)
c.902A>G (p.Asn301Ser)
2g.115753248A>TCA348323533DPP10c.1025A>T (p.Asn342Ile)
c.1004A>T (p.Asn335Ile)
c.1037A>T (p.Asn346Ile)
c.875A>T (p.Asn292Ile)
c.1013A>T (p.Asn338Ile)
c.773A>T (p.Asn258Ile)
n.67+1487T>A
c.1076A>T (p.Asn359Ile)
c.935A>T (p.Asn312Ile)
c.908A>T (p.Asn303Ile)
c.263A>T (p.Asn88Ile)
c.902A>T (p.Asn301Ile)
2g.115753249C>ACA348323535DPP10c.1026C>A (p.Asn342Lys)
c.1005C>A (p.Asn335Lys)
c.1038C>A (p.Asn346Lys)
c.876C>A (p.Asn292Lys)
c.1014C>A (p.Asn338Lys)
c.774C>A (p.Asn258Lys)
n.67+1486G>T
c.1077C>A (p.Asn359Lys)
c.936C>A (p.Asn312Lys)
c.909C>A (p.Asn303Lys)
c.264C>A (p.Asn88Lys)
c.903C>A (p.Asn301Lys)
dbSNP
2g.115753249C=CA1281312537DPP10c.1026C= (p.Asn342=)
c.1005C= (p.Asn335=)
c.1038C= (p.Asn346=)
c.876C= (p.Asn292=)
c.1014C= (p.Asn338=)
c.774C= (p.Asn258=)
n.67+1486G=
c.1077C= (p.Asn359=)
c.936C= (p.Asn312=)
c.909C= (p.Asn303=)
c.264C= (p.Asn88=)
c.903C= (p.Asn301=)
2g.115753249C>GCA348323536DPP10c.1026C>G (p.Asn342Lys)
c.1005C>G (p.Asn335Lys)
c.1038C>G (p.Asn346Lys)
c.876C>G (p.Asn292Lys)
c.1014C>G (p.Asn338Lys)
c.774C>G (p.Asn258Lys)
n.67+1486G>C
c.1077C>G (p.Asn359Lys)
c.936C>G (p.Asn312Lys)
c.909C>G (p.Asn303Lys)
c.264C>G (p.Asn88Lys)
c.903C>G (p.Asn301Lys)
2g.115753249C>TCA428355080DPP10c.1026C>T (p.Asn342=)
c.1005C>T (p.Asn335=)
c.1038C>T (p.Asn346=)
c.876C>T (p.Asn292=)
c.1014C>T (p.Asn338=)
c.774C>T (p.Asn258=)
n.67+1486G>A
c.1077C>T (p.Asn359=)
c.936C>T (p.Asn312=)
c.909C>T (p.Asn303=)
c.264C>T (p.Asn88=)
c.903C>T (p.Asn301=)
2g.115753250A=CA1281312538DPP10c.1027A= (p.Ile343=)
c.1006A= (p.Ile336=)
c.1039A= (p.Ile347=)
c.877A= (p.Ile293=)
c.1015A= (p.Ile339=)
c.775A= (p.Ile259=)
n.67+1485T=
c.1078A= (p.Ile360=)
c.937A= (p.Ile313=)
c.910A= (p.Ile304=)
c.265A= (p.Ile89=)
c.904A= (p.Ile302=)
2g.115753250A>CCA348323537DPP10c.1027A>C (p.Ile343Leu)
c.1006A>C (p.Ile336Leu)
c.1039A>C (p.Ile347Leu)
c.877A>C (p.Ile293Leu)
c.1015A>C (p.Ile339Leu)
c.775A>C (p.Ile259Leu)
n.67+1485T>G
c.1078A>C (p.Ile360Leu)
c.937A>C (p.Ile313Leu)
c.910A>C (p.Ile304Leu)
c.265A>C (p.Ile89Leu)
c.904A>C (p.Ile302Leu)
2g.115753250A>GCA1843065DPP10c.1027A>G (p.Ile343Val)
c.1006A>G (p.Ile336Val)
c.1039A>G (p.Ile347Val)
c.877A>G (p.Ile293Val)
c.1015A>G (p.Ile339Val)
c.775A>G (p.Ile259Val)
n.67+1485T>C
c.1078A>G (p.Ile360Val)
c.937A>G (p.Ile313Val)
c.910A>G (p.Ile304Val)
c.265A>G (p.Ile89Val)
c.904A>G (p.Ile302Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.115753250A>TCA348323538DPP10c.1027A>T (p.Ile343Phe)
c.1006A>T (p.Ile336Phe)
c.1039A>T (p.Ile347Phe)
c.877A>T (p.Ile293Phe)
c.1015A>T (p.Ile339Phe)
c.775A>T (p.Ile259Phe)
n.67+1485T>A
c.1078A>T (p.Ile360Phe)
c.937A>T (p.Ile313Phe)
c.910A>T (p.Ile304Phe)
c.265A>T (p.Ile89Phe)
c.904A>T (p.Ile302Phe)
2g.115753251T>ACA348323541DPP10c.1028T>A (p.Ile343Asn)
c.1007T>A (p.Ile336Asn)
c.1040T>A (p.Ile347Asn)
c.878T>A (p.Ile293Asn)
c.1016T>A (p.Ile339Asn)
c.776T>A (p.Ile259Asn)
n.67+1484A>T
c.1079T>A (p.Ile360Asn)
c.938T>A (p.Ile313Asn)
c.911T>A (p.Ile304Asn)
c.266T>A (p.Ile89Asn)
c.905T>A (p.Ile302Asn)
2g.115753251T>CCA348323539DPP10c.1028T>C (p.Ile343Thr)
c.1007T>C (p.Ile336Thr)
c.1040T>C (p.Ile347Thr)
c.878T>C (p.Ile293Thr)
c.1016T>C (p.Ile339Thr)
c.776T>C (p.Ile259Thr)
n.67+1484A>G
c.1079T>C (p.Ile360Thr)
c.938T>C (p.Ile313Thr)
c.911T>C (p.Ile304Thr)
c.266T>C (p.Ile89Thr)
c.905T>C (p.Ile302Thr)
2g.115753251T>GCA348323540DPP10c.1028T>G (p.Ile343Ser)
c.1007T>G (p.Ile336Ser)
c.1040T>G (p.Ile347Ser)
c.878T>G (p.Ile293Ser)
c.1016T>G (p.Ile339Ser)
c.776T>G (p.Ile259Ser)
n.67+1484A>C
c.1079T>G (p.Ile360Ser)
c.938T>G (p.Ile313Ser)
c.911T>G (p.Ile304Ser)
c.266T>G (p.Ile89Ser)
c.905T>G (p.Ile302Ser)
2g.115753252C>ACA428355101DPP10c.1029C>A (p.Ile343=)
c.1008C>A (p.Ile336=)
c.1041C>A (p.Ile347=)
c.879C>A (p.Ile293=)
c.1017C>A (p.Ile339=)
c.777C>A (p.Ile259=)
n.67+1483G>T
c.1080C>A (p.Ile360=)
c.939C>A (p.Ile313=)
c.912C>A (p.Ile304=)
c.267C>A (p.Ile89=)
c.906C>A (p.Ile302=)
2g.115753252C=CA1281312539DPP10c.1029C= (p.Ile343=)
c.1008C= (p.Ile336=)
c.1041C= (p.Ile347=)
c.879C= (p.Ile293=)
c.1017C= (p.Ile339=)
c.777C= (p.Ile259=)
n.67+1483G=
c.1080C= (p.Ile360=)
c.939C= (p.Ile313=)
c.912C= (p.Ile304=)
c.267C= (p.Ile89=)
c.906C= (p.Ile302=)
2g.115753252C>GCA348323542DPP10c.1029C>G (p.Ile343Met)
c.1008C>G (p.Ile336Met)
c.1041C>G (p.Ile347Met)
c.879C>G (p.Ile293Met)
c.1017C>G (p.Ile339Met)
c.777C>G (p.Ile259Met)
n.67+1483G>C
c.1080C>G (p.Ile360Met)
c.939C>G (p.Ile313Met)
c.912C>G (p.Ile304Met)
c.267C>G (p.Ile89Met)
c.906C>G (p.Ile302Met)
2g.115753252C>TCA428355124DPP10c.1029C>T (p.Ile343=)
c.1008C>T (p.Ile336=)
c.1041C>T (p.Ile347=)
c.879C>T (p.Ile293=)
c.1017C>T (p.Ile339=)
c.777C>T (p.Ile259=)
n.67+1483G>A
c.1080C>T (p.Ile360=)
c.939C>T (p.Ile313=)
c.912C>T (p.Ile304=)
c.267C>T (p.Ile89=)
c.906C>T (p.Ile302=)
dbSNP gnomAD v4
2g.115753253T>ACA348323543DPP10c.1030T>A (p.Ser344Thr)
c.1009T>A (p.Ser337Thr)
c.1042T>A (p.Ser348Thr)
c.880T>A (p.Ser294Thr)
c.1018T>A (p.Ser340Thr)
c.778T>A (p.Ser260Thr)
n.67+1482A>T
c.1081T>A (p.Ser361Thr)
c.940T>A (p.Ser314Thr)
c.913T>A (p.Ser305Thr)
c.268T>A (p.Ser90Thr)
c.907T>A (p.Ser303Thr)
2g.115753253T>CCA348323544DPP10c.1030T>C (p.Ser344Pro)
c.1009T>C (p.Ser337Pro)
c.1042T>C (p.Ser348Pro)
c.880T>C (p.Ser294Pro)
c.1018T>C (p.Ser340Pro)
c.778T>C (p.Ser260Pro)
n.67+1482A>G
c.1081T>C (p.Ser361Pro)
c.940T>C (p.Ser314Pro)
c.913T>C (p.Ser305Pro)
c.268T>C (p.Ser90Pro)
c.907T>C (p.Ser303Pro)
2g.115753253T>GCA348323545DPP10c.1030T>G (p.Ser344Ala)
c.1009T>G (p.Ser337Ala)
c.1042T>G (p.Ser348Ala)
c.880T>G (p.Ser294Ala)
c.1018T>G (p.Ser340Ala)
c.778T>G (p.Ser260Ala)
n.67+1482A>C
c.1081T>G (p.Ser361Ala)
c.940T>G (p.Ser314Ala)
c.913T>G (p.Ser305Ala)
c.268T>G (p.Ser90Ala)
c.907T>G (p.Ser303Ala)
2g.115753254C>ACA348323546DPP10c.1031C>A (p.Ser344Tyr)
c.1010C>A (p.Ser337Tyr)
c.1043C>A (p.Ser348Tyr)
c.881C>A (p.Ser294Tyr)
c.1019C>A (p.Ser340Tyr)
c.779C>A (p.Ser260Tyr)
n.67+1481G>T
c.1082C>A (p.Ser361Tyr)
c.941C>A (p.Ser314Tyr)
c.914C>A (p.Ser305Tyr)
c.269C>A (p.Ser90Tyr)
c.908C>A (p.Ser303Tyr)
2g.115753254C=CA1281312540DPP10c.1031C= (p.Ser344=)
c.1010C= (p.Ser337=)
c.1043C= (p.Ser348=)
c.881C= (p.Ser294=)
c.1019C= (p.Ser340=)
c.779C= (p.Ser260=)
n.67+1481G=
c.1082C= (p.Ser361=)
c.941C= (p.Ser314=)
c.914C= (p.Ser305=)
c.269C= (p.Ser90=)
c.908C= (p.Ser303=)
2g.115753254C>GCA1843066DPP10c.1031C>G (p.Ser344Cys)
c.1010C>G (p.Ser337Cys)
c.1043C>G (p.Ser348Cys)
c.881C>G (p.Ser294Cys)
c.1019C>G (p.Ser340Cys)
c.779C>G (p.Ser260Cys)
n.67+1481G>C
c.1082C>G (p.Ser361Cys)
c.941C>G (p.Ser314Cys)
c.914C>G (p.Ser305Cys)
c.269C>G (p.Ser90Cys)
c.908C>G (p.Ser303Cys)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.115753254C>TCA348323547DPP10c.1031C>T (p.Ser344Phe)
c.1010C>T (p.Ser337Phe)
c.1043C>T (p.Ser348Phe)
c.881C>T (p.Ser294Phe)
c.1019C>T (p.Ser340Phe)
c.779C>T (p.Ser260Phe)
n.67+1481G>A
c.1082C>T (p.Ser361Phe)
c.941C>T (p.Ser314Phe)
c.914C>T (p.Ser305Phe)
c.269C>T (p.Ser90Phe)
c.908C>T (p.Ser303Phe)
2g.115753255C>ACA428355148DPP10c.1032C>A (p.Ser344=)
c.1011C>A (p.Ser337=)
c.1044C>A (p.Ser348=)
c.882C>A (p.Ser294=)
c.1020C>A (p.Ser340=)
c.780C>A (p.Ser260=)
n.67+1480G>T
c.1083C>A (p.Ser361=)
c.942C>A (p.Ser314=)
c.915C>A (p.Ser305=)
c.270C>A (p.Ser90=)
c.909C>A (p.Ser303=)
2g.115753255C=CA1281312541DPP10c.1032C= (p.Ser344=)
c.1011C= (p.Ser337=)
c.1044C= (p.Ser348=)
c.882C= (p.Ser294=)
c.1020C= (p.Ser340=)
c.780C= (p.Ser260=)
n.67+1480G=
c.1083C= (p.Ser361=)
c.942C= (p.Ser314=)
c.915C= (p.Ser305=)
c.270C= (p.Ser90=)
c.909C= (p.Ser303=)
2g.115753255C>GCA428355150DPP10c.1032C>G (p.Ser344=)
c.1011C>G (p.Ser337=)
c.1044C>G (p.Ser348=)
c.882C>G (p.Ser294=)
c.1020C>G (p.Ser340=)
c.780C>G (p.Ser260=)
n.67+1480G>C
c.1083C>G (p.Ser361=)
c.942C>G (p.Ser314=)
c.915C>G (p.Ser305=)
c.270C>G (p.Ser90=)
c.909C>G (p.Ser303=)
2g.115753255C>TCA428355153DPP10c.1032C>T (p.Ser344=)
c.1011C>T (p.Ser337=)
c.1044C>T (p.Ser348=)
c.882C>T (p.Ser294=)
c.1020C>T (p.Ser340=)
c.780C>T (p.Ser260=)
n.67+1480G>A
c.1083C>T (p.Ser361=)
c.942C>T (p.Ser314=)
c.915C>T (p.Ser305=)
c.270C>T (p.Ser90=)
c.909C>T (p.Ser303=)
dbSNP gnomAD v3 gnomAD v4
2g.115753256A=CA1281312542DPP10c.1033A= (p.Ile345=)
c.1012A= (p.Ile338=)
c.1045A= (p.Ile349=)
c.883A= (p.Ile295=)
c.1021A= (p.Ile341=)
c.781A= (p.Ile261=)
n.67+1479T=
c.1084A= (p.Ile362=)
c.943A= (p.Ile315=)
c.916A= (p.Ile306=)
c.271A= (p.Ile91=)
c.910A= (p.Ile304=)
2g.115753256A>CCA348323548DPP10c.1033A>C (p.Ile345Leu)
c.1012A>C (p.Ile338Leu)
c.1045A>C (p.Ile349Leu)
c.883A>C (p.Ile295Leu)
c.1021A>C (p.Ile341Leu)
c.781A>C (p.Ile261Leu)
n.67+1479T>G
c.1084A>C (p.Ile362Leu)
c.943A>C (p.Ile315Leu)
c.916A>C (p.Ile306Leu)
c.271A>C (p.Ile91Leu)
c.910A>C (p.Ile304Leu)
gnomAD v4
2g.115753256A>GCA348323550DPP10c.1033A>G (p.Ile345Val)
c.1012A>G (p.Ile338Val)
c.1045A>G (p.Ile349Val)
c.883A>G (p.Ile295Val)
c.1021A>G (p.Ile341Val)
c.781A>G (p.Ile261Val)
n.67+1479T>C
c.1084A>G (p.Ile362Val)
c.943A>G (p.Ile315Val)
c.916A>G (p.Ile306Val)
c.271A>G (p.Ile91Val)
c.910A>G (p.Ile304Val)
dbSNP gnomAD v4
2g.115753256A>TCA348323549DPP10c.1033A>T (p.Ile345Phe)
c.1012A>T (p.Ile338Phe)
c.1045A>T (p.Ile349Phe)
c.883A>T (p.Ile295Phe)
c.1021A>T (p.Ile341Phe)
c.781A>T (p.Ile261Phe)
n.67+1479T>A
c.1084A>T (p.Ile362Phe)
c.943A>T (p.Ile315Phe)
c.916A>T (p.Ile306Phe)
c.271A>T (p.Ile91Phe)
c.910A>T (p.Ile304Phe)
2g.115753257T>ACA348323551DPP10c.1034T>A (p.Ile345Asn)
c.1013T>A (p.Ile338Asn)
c.1046T>A (p.Ile349Asn)
c.884T>A (p.Ile295Asn)
c.1022T>A (p.Ile341Asn)
c.782T>A (p.Ile261Asn)
n.67+1478A>T
c.1085T>A (p.Ile362Asn)
c.944T>A (p.Ile315Asn)
c.917T>A (p.Ile306Asn)
c.272T>A (p.Ile91Asn)
c.911T>A (p.Ile304Asn)
2g.115753257T>CCA348323552DPP10c.1034T>C (p.Ile345Thr)
c.1013T>C (p.Ile338Thr)
c.1046T>C (p.Ile349Thr)
c.884T>C (p.Ile295Thr)
c.1022T>C (p.Ile341Thr)
c.782T>C (p.Ile261Thr)
n.67+1478A>G
c.1085T>C (p.Ile362Thr)
c.944T>C (p.Ile315Thr)
c.917T>C (p.Ile306Thr)
c.272T>C (p.Ile91Thr)
c.911T>C (p.Ile304Thr)
2g.115753257T>GCA348323553DPP10c.1034T>G (p.Ile345Ser)
c.1013T>G (p.Ile338Ser)
c.1046T>G (p.Ile349Ser)
c.884T>G (p.Ile295Ser)
c.1022T>G (p.Ile341Ser)
c.782T>G (p.Ile261Ser)
n.67+1478A>C
c.1085T>G (p.Ile362Ser)
c.944T>G (p.Ile315Ser)
c.917T>G (p.Ile306Ser)
c.272T>G (p.Ile91Ser)
c.911T>G (p.Ile304Ser)
2g.115753258C>ACA428355179DPP10c.1035C>A (p.Ile345=)
c.1014C>A (p.Ile338=)
c.1047C>A (p.Ile349=)
c.885C>A (p.Ile295=)
c.1023C>A (p.Ile341=)
c.783C>A (p.Ile261=)
n.67+1477G>T
c.1086C>A (p.Ile362=)
c.945C>A (p.Ile315=)
c.918C>A (p.Ile306=)
c.273C>A (p.Ile91=)
c.912C>A (p.Ile304=)
2g.115753258C>GCA348323554DPP10c.1035C>G (p.Ile345Met)
c.1014C>G (p.Ile338Met)
c.1047C>G (p.Ile349Met)
c.885C>G (p.Ile295Met)
c.1023C>G (p.Ile341Met)
c.783C>G (p.Ile261Met)
n.67+1477G>C
c.1086C>G (p.Ile362Met)
c.945C>G (p.Ile315Met)
c.918C>G (p.Ile306Met)
c.273C>G (p.Ile91Met)
c.912C>G (p.Ile304Met)
2g.115753258C>TCA428355184DPP10c.1035C>T (p.Ile345=)
c.1014C>T (p.Ile338=)
c.1047C>T (p.Ile349=)
c.885C>T (p.Ile295=)
c.1023C>T (p.Ile341=)
c.783C>T (p.Ile261=)
n.67+1477G>A
c.1086C>T (p.Ile362=)
c.945C>T (p.Ile315=)
c.918C>T (p.Ile306=)
c.273C>T (p.Ile91=)
c.912C>T (p.Ile304=)
gnomAD v4
2g.115753259C>ACA1843067DPP10c.1036C>A (p.Leu346Ile)
c.1015C>A (p.Leu339Ile)
c.1048C>A (p.Leu350Ile)
c.886C>A (p.Leu296Ile)
c.1024C>A (p.Leu342Ile)
c.784C>A (p.Leu262Ile)
n.67+1476G>T
c.1087C>A (p.Leu363Ile)
c.946C>A (p.Leu316Ile)
c.919C>A (p.Leu307Ile)
c.274C>A (p.Leu92Ile)
c.913C>A (p.Leu305Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.115753259C=CA1281312543DPP10c.1036C= (p.Leu346=)
c.1015C= (p.Leu339=)
c.1048C= (p.Leu350=)
c.886C= (p.Leu296=)
c.1024C= (p.Leu342=)
c.784C= (p.Leu262=)
n.67+1476G=
c.1087C= (p.Leu363=)
c.946C= (p.Leu316=)
c.919C= (p.Leu307=)
c.274C= (p.Leu92=)
c.913C= (p.Leu305=)
2g.115753259C>GCA348323555DPP10c.1036C>G (p.Leu346Val)
c.1015C>G (p.Leu339Val)
c.1048C>G (p.Leu350Val)
c.886C>G (p.Leu296Val)
c.1024C>G (p.Leu342Val)
c.784C>G (p.Leu262Val)
n.67+1476G>C
c.1087C>G (p.Leu363Val)
c.946C>G (p.Leu316Val)
c.919C>G (p.Leu307Val)
c.274C>G (p.Leu92Val)
c.913C>G (p.Leu305Val)
2g.115753259C>TCA348323556DPP10c.1036C>T (p.Leu346Phe)
c.1015C>T (p.Leu339Phe)
c.1048C>T (p.Leu350Phe)
c.886C>T (p.Leu296Phe)
c.1024C>T (p.Leu342Phe)
c.784C>T (p.Leu262Phe)
n.67+1476G>A
c.1087C>T (p.Leu363Phe)
c.946C>T (p.Leu316Phe)
c.919C>T (p.Leu307Phe)
c.274C>T (p.Leu92Phe)
c.913C>T (p.Leu305Phe)
2g.115753260T>ACA348323557DPP10c.1037T>A (p.Leu346His)
c.1016T>A (p.Leu339His)
c.1049T>A (p.Leu350His)
c.887T>A (p.Leu296His)
c.1025T>A (p.Leu342His)
c.785T>A (p.Leu262His)
n.67+1475A>T
c.1088T>A (p.Leu363His)
c.947T>A (p.Leu316His)
c.920T>A (p.Leu307His)
c.275T>A (p.Leu92His)
c.914T>A (p.Leu305His)
2g.115753260T>CCA348323558DPP10c.1037T>C (p.Leu346Pro)
c.1016T>C (p.Leu339Pro)
c.1049T>C (p.Leu350Pro)
c.887T>C (p.Leu296Pro)
c.1025T>C (p.Leu342Pro)
c.785T>C (p.Leu262Pro)
n.67+1475A>G
c.1088T>C (p.Leu363Pro)
c.947T>C (p.Leu316Pro)
c.920T>C (p.Leu307Pro)
c.275T>C (p.Leu92Pro)
c.914T>C (p.Leu305Pro)
gnomAD v4
2g.115753260T>GCA348323559DPP10c.1037T>G (p.Leu346Arg)
c.1016T>G (p.Leu339Arg)
c.1049T>G (p.Leu350Arg)
c.887T>G (p.Leu296Arg)
c.1025T>G (p.Leu342Arg)
c.785T>G (p.Leu262Arg)
n.67+1475A>C
c.1088T>G (p.Leu363Arg)
c.947T>G (p.Leu316Arg)
c.920T>G (p.Leu307Arg)
c.275T>G (p.Leu92Arg)
c.914T>G (p.Leu305Arg)
2g.115753261C>ACA428355209DPP10c.1038C>A (p.Leu346=)
c.1017C>A (p.Leu339=)
c.1050C>A (p.Leu350=)
c.888C>A (p.Leu296=)
c.1026C>A (p.Leu342=)
c.786C>A (p.Leu262=)
n.67+1474G>T
c.1089C>A (p.Leu363=)
c.948C>A (p.Leu316=)
c.921C>A (p.Leu307=)
c.276C>A (p.Leu92=)
c.915C>A (p.Leu305=)
2g.115753261C>GCA428355216DPP10c.1038C>G (p.Leu346=)
c.1017C>G (p.Leu339=)
c.1050C>G (p.Leu350=)
c.888C>G (p.Leu296=)
c.1026C>G (p.Leu342=)
c.786C>G (p.Leu262=)
n.67+1474G>C
c.1089C>G (p.Leu363=)
c.948C>G (p.Leu316=)
c.921C>G (p.Leu307=)
c.276C>G (p.Leu92=)
c.915C>G (p.Leu305=)
2g.115753261C>TCA428355222DPP10c.1038C>T (p.Leu346=)
c.1017C>T (p.Leu339=)
c.1050C>T (p.Leu350=)
c.888C>T (p.Leu296=)
c.1026C>T (p.Leu342=)
c.786C>T (p.Leu262=)
n.67+1474G>A
c.1089C>T (p.Leu363=)
c.948C>T (p.Leu316=)
c.921C>T (p.Leu307=)
c.276C>T (p.Leu92=)
c.915C>T (p.Leu305=)
2g.115753262A>CCA348323560DPP10c.1039A>C (p.Thr347Pro)
c.1018A>C (p.Thr340Pro)
c.1051A>C (p.Thr351Pro)
c.889A>C (p.Thr297Pro)
c.1027A>C (p.Thr343Pro)
c.787A>C (p.Thr263Pro)
n.67+1473T>G
c.1090A>C (p.Thr364Pro)
c.949A>C (p.Thr317Pro)
c.922A>C (p.Thr308Pro)
c.277A>C (p.Thr93Pro)
c.916A>C (p.Thr306Pro)
2g.115753262A>GCA348323561DPP10c.1039A>G (p.Thr347Ala)
c.1018A>G (p.Thr340Ala)
c.1051A>G (p.Thr351Ala)
c.889A>G (p.Thr297Ala)
c.1027A>G (p.Thr343Ala)
c.787A>G (p.Thr263Ala)
n.67+1473T>C
c.1090A>G (p.Thr364Ala)
c.949A>G (p.Thr317Ala)
c.922A>G (p.Thr308Ala)
c.277A>G (p.Thr93Ala)
c.916A>G (p.Thr306Ala)
2g.115753262A>TCA348323562DPP10c.1039A>T (p.Thr347Ser)
c.1018A>T (p.Thr340Ser)
c.1051A>T (p.Thr351Ser)
c.889A>T (p.Thr297Ser)
c.1027A>T (p.Thr343Ser)
c.787A>T (p.Thr263Ser)
n.67+1473T>A
c.1090A>T (p.Thr364Ser)
c.949A>T (p.Thr317Ser)
c.922A>T (p.Thr308Ser)
c.277A>T (p.Thr93Ser)
c.916A>T (p.Thr306Ser)
2g.115753263C>ACA348323563DPP10c.1040C>A (p.Thr347Lys)
c.1019C>A (p.Thr340Lys)
c.1052C>A (p.Thr351Lys)
c.890C>A (p.Thr297Lys)
c.1028C>A (p.Thr343Lys)
c.788C>A (p.Thr263Lys)
n.67+1472G>T
c.1091C>A (p.Thr364Lys)
c.950C>A (p.Thr317Lys)
c.923C>A (p.Thr308Lys)
c.278C>A (p.Thr93Lys)
c.917C>A (p.Thr306Lys)
COSMIC COSMIC
2g.115753263C>GCA348323564DPP10c.1040C>G (p.Thr347Arg)
c.1019C>G (p.Thr340Arg)
c.1052C>G (p.Thr351Arg)
c.890C>G (p.Thr297Arg)
c.1028C>G (p.Thr343Arg)
c.788C>G (p.Thr263Arg)
n.67+1472G>C
c.1091C>G (p.Thr364Arg)
c.950C>G (p.Thr317Arg)
c.923C>G (p.Thr308Arg)
c.278C>G (p.Thr93Arg)
c.917C>G (p.Thr306Arg)
2g.115753263C>TCA348323565DPP10c.1040C>T (p.Thr347Ile)
c.1019C>T (p.Thr340Ile)
c.1052C>T (p.Thr351Ile)
c.890C>T (p.Thr297Ile)
c.1028C>T (p.Thr343Ile)
c.788C>T (p.Thr263Ile)
n.67+1472G>A
c.1091C>T (p.Thr364Ile)
c.950C>T (p.Thr317Ile)
c.923C>T (p.Thr308Ile)
c.278C>T (p.Thr93Ile)
c.917C>T (p.Thr306Ile)
gnomAD v4 COSMIC COSMIC COSMIC
2g.115753264A=CA1281312544DPP10c.1041A= (p.Thr347=)
c.1020A= (p.Thr340=)
c.1053A= (p.Thr351=)
c.891A= (p.Thr297=)
c.1029A= (p.Thr343=)
c.789A= (p.Thr263=)
n.67+1471T=
c.1092A= (p.Thr364=)
c.951A= (p.Thr317=)
c.924A= (p.Thr308=)
c.279A= (p.Thr93=)
c.918A= (p.Thr306=)
2g.115753264A>CCA428355263DPP10c.1041A>C (p.Thr347=)
c.1020A>C (p.Thr340=)
c.1053A>C (p.Thr351=)
c.891A>C (p.Thr297=)
c.1029A>C (p.Thr343=)
c.789A>C (p.Thr263=)
n.67+1471T>G
c.1092A>C (p.Thr364=)
c.951A>C (p.Thr317=)
c.924A>C (p.Thr308=)
c.279A>C (p.Thr93=)
c.918A>C (p.Thr306=)
dbSNP
2g.115753264A>GCA428355266DPP10c.1041A>G (p.Thr347=)
c.1020A>G (p.Thr340=)
c.1053A>G (p.Thr351=)
c.891A>G (p.Thr297=)
c.1029A>G (p.Thr343=)
c.789A>G (p.Thr263=)
n.67+1471T>C
c.1092A>G (p.Thr364=)
c.951A>G (p.Thr317=)
c.924A>G (p.Thr308=)
c.279A>G (p.Thr93=)
c.918A>G (p.Thr306=)
2g.115753264A>TCA428355268DPP10c.1041A>T (p.Thr347=)
c.1020A>T (p.Thr340=)
c.1053A>T (p.Thr351=)
c.891A>T (p.Thr297=)
c.1029A>T (p.Thr343=)
c.789A>T (p.Thr263=)
n.67+1471T>A
c.1092A>T (p.Thr364=)
c.951A>T (p.Thr317=)
c.924A>T (p.Thr308=)
c.279A>T (p.Thr93=)
c.918A>T (p.Thr306=)
2g.115753265G>ACA348323566DPP10c.1042G>A (p.Val348Ile)
c.1021G>A (p.Val341Ile)
c.1054G>A (p.Val352Ile)
c.892G>A (p.Val298Ile)
c.1030G>A (p.Val344Ile)
c.790G>A (p.Val264Ile)
n.67+1470C>T
c.1093G>A (p.Val365Ile)
c.952G>A (p.Val318Ile)
c.925G>A (p.Val309Ile)
c.280G>A (p.Val94Ile)
c.919G>A (p.Val307Ile)
dbSNP gnomAD v3 gnomAD v4
2g.115753265G>CCA348323567DPP10c.1042G>C (p.Val348Leu)
c.1021G>C (p.Val341Leu)
c.1054G>C (p.Val352Leu)
c.892G>C (p.Val298Leu)
c.1030G>C (p.Val344Leu)
c.790G>C (p.Val264Leu)
n.67+1470C>G
c.1093G>C (p.Val365Leu)
c.952G>C (p.Val318Leu)
c.925G>C (p.Val309Leu)
c.280G>C (p.Val94Leu)
c.919G>C (p.Val307Leu)
2g.115753265G=CA1281312545DPP10c.1042G= (p.Val348=)
c.1021G= (p.Val341=)
c.1054G= (p.Val352=)
c.892G= (p.Val298=)
c.1030G= (p.Val344=)
c.790G= (p.Val264=)
n.67+1470C=
c.1093G= (p.Val365=)
c.952G= (p.Val318=)
c.925G= (p.Val309=)
c.280G= (p.Val94=)
c.919G= (p.Val307=)
2g.115753265G>TCA348323568DPP10c.1042G>T (p.Val348Phe)
c.1021G>T (p.Val341Phe)
c.1054G>T (p.Val352Phe)
c.892G>T (p.Val298Phe)
c.1030G>T (p.Val344Phe)
c.790G>T (p.Val264Phe)
n.67+1470C>A
c.1093G>T (p.Val365Phe)
c.952G>T (p.Val318Phe)
c.925G>T (p.Val309Phe)
c.280G>T (p.Val94Phe)
c.919G>T (p.Val307Phe)
2g.115753266T>ACA348323571DPP10c.1043T>A (p.Val348Asp)
c.1022T>A (p.Val341Asp)
c.1055T>A (p.Val352Asp)
c.893T>A (p.Val298Asp)
c.1031T>A (p.Val344Asp)
c.791T>A (p.Val264Asp)
n.67+1469A>T
c.1094T>A (p.Val365Asp)
c.953T>A (p.Val318Asp)
c.926T>A (p.Val309Asp)
c.281T>A (p.Val94Asp)
c.920T>A (p.Val307Asp)
gnomAD v4
2g.115753266T>CCA348323569DPP10c.1043T>C (p.Val348Ala)
c.1022T>C (p.Val341Ala)
c.1055T>C (p.Val352Ala)
c.893T>C (p.Val298Ala)
c.1031T>C (p.Val344Ala)
c.791T>C (p.Val264Ala)
n.67+1469A>G
c.1094T>C (p.Val365Ala)
c.953T>C (p.Val318Ala)
c.926T>C (p.Val309Ala)
c.281T>C (p.Val94Ala)
c.920T>C (p.Val307Ala)
2g.115753266T>GCA348323570DPP10c.1043T>G (p.Val348Gly)
c.1022T>G (p.Val341Gly)
c.1055T>G (p.Val352Gly)
c.893T>G (p.Val298Gly)
c.1031T>G (p.Val344Gly)
c.791T>G (p.Val264Gly)
n.67+1469A>C
c.1094T>G (p.Val365Gly)
c.953T>G (p.Val318Gly)
c.926T>G (p.Val309Gly)
c.281T>G (p.Val94Gly)
c.920T>G (p.Val307Gly)
gnomAD v4
2g.115753267C>ACA428355302DPP10c.1044C>A (p.Val348=)
c.1023C>A (p.Val341=)
c.1056C>A (p.Val352=)
c.894C>A (p.Val298=)
c.1032C>A (p.Val344=)
c.792C>A (p.Val264=)
n.67+1468G>T
c.1095C>A (p.Val365=)
c.954C>A (p.Val318=)
c.927C>A (p.Val309=)
c.282C>A (p.Val94=)
c.921C>A (p.Val307=)
2g.115753267C>GCA428355309DPP10c.1044C>G (p.Val348=)
c.1023C>G (p.Val341=)
c.1056C>G (p.Val352=)
c.894C>G (p.Val298=)
c.1032C>G (p.Val344=)
c.792C>G (p.Val264=)
n.67+1468G>C
c.1095C>G (p.Val365=)
c.954C>G (p.Val318=)
c.927C>G (p.Val309=)
c.282C>G (p.Val94=)
c.921C>G (p.Val307=)
2g.115753267C>TCA428355315DPP10c.1044C>T (p.Val348=)
c.1023C>T (p.Val341=)
c.1056C>T (p.Val352=)
c.894C>T (p.Val298=)
c.1032C>T (p.Val344=)
c.792C>T (p.Val264=)
n.67+1468G>A
c.1095C>T (p.Val365=)
c.954C>T (p.Val318=)
c.927C>T (p.Val309=)
c.282C>T (p.Val94=)
c.921C>T (p.Val307=)
2g.115753268T>ACA348323572DPP10c.1045T>A (p.Cys349Ser)
c.1024T>A (p.Cys342Ser)
c.1057T>A (p.Cys353Ser)
c.895T>A (p.Cys299Ser)
c.1033T>A (p.Cys345Ser)
c.793T>A (p.Cys265Ser)
n.67+1467A>T
c.1096T>A (p.Cys366Ser)
c.955T>A (p.Cys319Ser)
c.928T>A (p.Cys310Ser)
c.283T>A (p.Cys95Ser)
c.922T>A (p.Cys308Ser)
2g.115753268T>CCA348323573DPP10c.1045T>C (p.Cys349Arg)
c.1024T>C (p.Cys342Arg)
c.1057T>C (p.Cys353Arg)
c.895T>C (p.Cys299Arg)
c.1033T>C (p.Cys345Arg)
c.793T>C (p.Cys265Arg)
n.67+1467A>G
c.1096T>C (p.Cys366Arg)
c.955T>C (p.Cys319Arg)
c.928T>C (p.Cys310Arg)
c.283T>C (p.Cys95Arg)
c.922T>C (p.Cys308Arg)
gnomAD v4
2g.115753268T>GCA348323574DPP10c.1045T>G (p.Cys349Gly)
c.1024T>G (p.Cys342Gly)
c.1057T>G (p.Cys353Gly)
c.895T>G (p.Cys299Gly)
c.1033T>G (p.Cys345Gly)
c.793T>G (p.Cys265Gly)
n.67+1467A>C
c.1096T>G (p.Cys366Gly)
c.955T>G (p.Cys319Gly)
c.928T>G (p.Cys310Gly)
c.283T>G (p.Cys95Gly)
c.922T>G (p.Cys308Gly)
2g.115753269G>ACA348323575DPP10c.1046G>A (p.Cys349Tyr)
c.1025G>A (p.Cys342Tyr)
c.1058G>A (p.Cys353Tyr)
c.896G>A (p.Cys299Tyr)
c.1034G>A (p.Cys345Tyr)
c.794G>A (p.Cys265Tyr)
n.67+1466C>T
c.1097G>A (p.Cys366Tyr)
c.956G>A (p.Cys319Tyr)
c.929G>A (p.Cys310Tyr)
c.284G>A (p.Cys95Tyr)
c.923G>A (p.Cys308Tyr)
gnomAD v4
2g.115753269G>CCA348323576DPP10c.1046G>C (p.Cys349Ser)
c.1025G>C (p.Cys342Ser)
c.1058G>C (p.Cys353Ser)
c.896G>C (p.Cys299Ser)
c.1034G>C (p.Cys345Ser)
c.794G>C (p.Cys265Ser)
n.67+1466C>G
c.1097G>C (p.Cys366Ser)
c.956G>C (p.Cys319Ser)
c.929G>C (p.Cys310Ser)
c.284G>C (p.Cys95Ser)
c.923G>C (p.Cys308Ser)
2g.115753269G>TCA348323577DPP10c.1046G>T (p.Cys349Phe)
c.1025G>T (p.Cys342Phe)
c.1058G>T (p.Cys353Phe)
c.896G>T (p.Cys299Phe)
c.1034G>T (p.Cys345Phe)
c.794G>T (p.Cys265Phe)
n.67+1466C>A
c.1097G>T (p.Cys366Phe)
c.956G>T (p.Cys319Phe)
c.929G>T (p.Cys310Phe)
c.284G>T (p.Cys95Phe)
c.923G>T (p.Cys308Phe)
2g.115753270T>ACA348323578DPP10c.1047T>A (p.Cys349Ter)
c.1026T>A (p.Cys342Ter)
c.1059T>A (p.Cys353Ter)
c.897T>A (p.Cys299Ter)
c.1035T>A (p.Cys345Ter)
c.795T>A (p.Cys265Ter)
n.67+1465A>T
c.1098T>A (p.Cys366Ter)
c.957T>A (p.Cys319Ter)
c.930T>A (p.Cys310Ter)
c.285T>A (p.Cys95Ter)
c.924T>A (p.Cys308Ter)
2g.115753270T>CCA428355335DPP10c.1047T>C (p.Cys349=)
c.1026T>C (p.Cys342=)
c.1059T>C (p.Cys353=)
c.897T>C (p.Cys299=)
c.1035T>C (p.Cys345=)
c.795T>C (p.Cys265=)
n.67+1465A>G
c.1098T>C (p.Cys366=)
c.957T>C (p.Cys319=)
c.930T>C (p.Cys310=)
c.285T>C (p.Cys95=)
c.924T>C (p.Cys308=)
2g.115753270T>GCA348323579DPP10c.1047T>G (p.Cys349Trp)
c.1026T>G (p.Cys342Trp)
c.1059T>G (p.Cys353Trp)
c.897T>G (p.Cys299Trp)
c.1035T>G (p.Cys345Trp)
c.795T>G (p.Cys265Trp)
n.67+1465A>C
c.1098T>G (p.Cys366Trp)
c.957T>G (p.Cys319Trp)
c.930T>G (p.Cys310Trp)
c.285T>G (p.Cys95Trp)
c.924T>G (p.Cys308Trp)
gnomAD v4
2g.115753271G>ACA348323580DPP10c.1048G>A (p.Glu350Lys)
c.1027G>A (p.Glu343Lys)
c.1060G>A (p.Glu354Lys)
c.898G>A (p.Glu300Lys)
c.1036G>A (p.Glu346Lys)
c.796G>A (p.Glu266Lys)
n.67+1464C>T
c.1099G>A (p.Glu367Lys)
c.958G>A (p.Glu320Lys)
c.931G>A (p.Glu311Lys)
c.286G>A (p.Glu96Lys)
c.925G>A (p.Glu309Lys)
2g.115753271G>CCA348323581DPP10c.1048G>C (p.Glu350Gln)
c.1027G>C (p.Glu343Gln)
c.1060G>C (p.Glu354Gln)
c.898G>C (p.Glu300Gln)
c.1036G>C (p.Glu346Gln)
c.796G>C (p.Glu266Gln)
n.67+1464C>G
c.1099G>C (p.Glu367Gln)
c.958G>C (p.Glu320Gln)
c.931G>C (p.Glu311Gln)
c.286G>C (p.Glu96Gln)
c.925G>C (p.Glu309Gln)
2g.115753271G>TCA348323582DPP10c.1048G>T (p.Glu350Ter)
c.1027G>T (p.Glu343Ter)
c.1060G>T (p.Glu354Ter)
c.898G>T (p.Glu300Ter)
c.1036G>T (p.Glu346Ter)
c.796G>T (p.Glu266Ter)
n.67+1464C>A
c.1099G>T (p.Glu367Ter)
c.958G>T (p.Glu320Ter)
c.931G>T (p.Glu311Ter)
c.286G>T (p.Glu96Ter)
c.925G>T (p.Glu309Ter)
2g.115753272A=CA1281312546DPP10c.1049A= (p.Glu350=)
c.1028A= (p.Glu343=)
c.1061A= (p.Glu354=)
c.899A= (p.Glu300=)
c.1037A= (p.Glu346=)
c.797A= (p.Glu266=)
n.67+1463T=
c.1100A= (p.Glu367=)
c.959A= (p.Glu320=)
c.932A= (p.Glu311=)
c.287A= (p.Glu96=)
c.926A= (p.Glu309=)
2g.115753272A>CCA348323583DPP10c.1049A>C (p.Glu350Ala)
c.1028A>C (p.Glu343Ala)
c.1061A>C (p.Glu354Ala)
c.899A>C (p.Glu300Ala)
c.1037A>C (p.Glu346Ala)
c.797A>C (p.Glu266Ala)
n.67+1463T>G
c.1100A>C (p.Glu367Ala)
c.959A>C (p.Glu320Ala)
c.932A>C (p.Glu311Ala)
c.287A>C (p.Glu96Ala)
c.926A>C (p.Glu309Ala)
2g.115753272A>GCA54497659DPP10c.1049A>G (p.Glu350Gly)
c.1028A>G (p.Glu343Gly)
c.1061A>G (p.Glu354Gly)
c.899A>G (p.Glu300Gly)
c.1037A>G (p.Glu346Gly)
c.797A>G (p.Glu266Gly)
n.67+1463T>C
c.1100A>G (p.Glu367Gly)
c.959A>G (p.Glu320Gly)
c.932A>G (p.Glu311Gly)
c.287A>G (p.Glu96Gly)
c.926A>G (p.Glu309Gly)
dbSNP
2g.115753272A>TCA348323584DPP10c.1049A>T (p.Glu350Val)
c.1028A>T (p.Glu343Val)
c.1061A>T (p.Glu354Val)
c.899A>T (p.Glu300Val)
c.1037A>T (p.Glu346Val)
c.797A>T (p.Glu266Val)
n.67+1463T>A
c.1100A>T (p.Glu367Val)
c.959A>T (p.Glu320Val)
c.932A>T (p.Glu311Val)
c.287A>T (p.Glu96Val)
c.926A>T (p.Glu309Val)
2g.115753273G>ACA428355374DPP10c.1050G>A (p.Glu350=)
c.1029G>A (p.Glu343=)
c.1062G>A (p.Glu354=)
c.900G>A (p.Glu300=)
c.1038G>A (p.Glu346=)
c.798G>A (p.Glu266=)
n.67+1462C>T
c.1101G>A (p.Glu367=)
c.960G>A (p.Glu320=)
c.933G>A (p.Glu311=)
c.288G>A (p.Glu96=)
c.927G>A (p.Glu309=)
2g.115753273G>CCA348323585DPP10c.1050G>C (p.Glu350Asp)
c.1029G>C (p.Glu343Asp)
c.1062G>C (p.Glu354Asp)
c.900G>C (p.Glu300Asp)
c.1038G>C (p.Glu346Asp)
c.798G>C (p.Glu266Asp)
n.67+1462C>G
c.1101G>C (p.Glu367Asp)
c.960G>C (p.Glu320Asp)
c.933G>C (p.Glu311Asp)
c.288G>C (p.Glu96Asp)
c.927G>C (p.Glu309Asp)
2g.115753273G>TCA348323586DPP10c.1050G>T (p.Glu350Asp)
c.1029G>T (p.Glu343Asp)
c.1062G>T (p.Glu354Asp)
c.900G>T (p.Glu300Asp)
c.1038G>T (p.Glu346Asp)
c.798G>T (p.Glu266Asp)
n.67+1462C>A
c.1101G>T (p.Glu367Asp)
c.960G>T (p.Glu320Asp)
c.933G>T (p.Glu311Asp)
c.288G>T (p.Glu96Asp)
c.927G>T (p.Glu309Asp)
2g.115753274A=CA1281312547DPP10c.1051A= (p.Thr351=)
c.1030A= (p.Thr344=)
c.1063A= (p.Thr355=)
c.901A= (p.Thr301=)
c.1039A= (p.Thr347=)
c.799A= (p.Thr267=)
n.67+1461T=
c.1102A= (p.Thr368=)
c.961A= (p.Thr321=)
c.934A= (p.Thr312=)
c.289A= (p.Thr97=)
c.928A= (p.Thr310=)
2g.115753274A>CCA348323587DPP10c.1051A>C (p.Thr351Pro)
c.1030A>C (p.Thr344Pro)
c.1063A>C (p.Thr355Pro)
c.901A>C (p.Thr301Pro)
c.1039A>C (p.Thr347Pro)
c.799A>C (p.Thr267Pro)
n.67+1461T>G
c.1102A>C (p.Thr368Pro)
c.961A>C (p.Thr321Pro)
c.934A>C (p.Thr312Pro)
c.289A>C (p.Thr97Pro)
c.928A>C (p.Thr310Pro)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.115753274A>GCA348323588DPP10c.1051A>G (p.Thr351Ala)
c.1030A>G (p.Thr344Ala)
c.1063A>G (p.Thr355Ala)
c.901A>G (p.Thr301Ala)
c.1039A>G (p.Thr347Ala)
c.799A>G (p.Thr267Ala)
n.67+1461T>C
c.1102A>G (p.Thr368Ala)
c.961A>G (p.Thr321Ala)
c.934A>G (p.Thr312Ala)
c.289A>G (p.Thr97Ala)
c.928A>G (p.Thr310Ala)
2g.115753274A>TCA348323589DPP10c.1051A>T (p.Thr351Ser)
c.1030A>T (p.Thr344Ser)
c.1063A>T (p.Thr355Ser)
c.901A>T (p.Thr301Ser)
c.1039A>T (p.Thr347Ser)
c.799A>T (p.Thr267Ser)
n.67+1461T>A
c.1102A>T (p.Thr368Ser)
c.961A>T (p.Thr321Ser)
c.934A>T (p.Thr312Ser)
c.289A>T (p.Thr97Ser)
c.928A>T (p.Thr310Ser)
2g.115753275C>ACA348323590DPP10c.1052C>A (p.Thr351Asn)
c.1031C>A (p.Thr344Asn)
c.1064C>A (p.Thr355Asn)
c.902C>A (p.Thr301Asn)
c.1040C>A (p.Thr347Asn)
c.800C>A (p.Thr267Asn)
n.67+1460G>T
c.1103C>A (p.Thr368Asn)
c.962C>A (p.Thr321Asn)
c.935C>A (p.Thr312Asn)
c.290C>A (p.Thr97Asn)
c.929C>A (p.Thr310Asn)
gnomAD v4
2g.115753275C>GCA348323591DPP10c.1052C>G (p.Thr351Ser)
c.1031C>G (p.Thr344Ser)
c.1064C>G (p.Thr355Ser)
c.902C>G (p.Thr301Ser)
c.1040C>G (p.Thr347Ser)
c.800C>G (p.Thr267Ser)
n.67+1460G>C
c.1103C>G (p.Thr368Ser)
c.962C>G (p.Thr321Ser)
c.935C>G (p.Thr312Ser)
c.290C>G (p.Thr97Ser)
c.929C>G (p.Thr310Ser)
2g.115753275C>TCA348323592DPP10c.1052C>T (p.Thr351Ile)
c.1031C>T (p.Thr344Ile)
c.1064C>T (p.Thr355Ile)
c.902C>T (p.Thr301Ile)
c.1040C>T (p.Thr347Ile)
c.800C>T (p.Thr267Ile)
n.67+1460G>A
c.1103C>T (p.Thr368Ile)
c.962C>T (p.Thr321Ile)
c.935C>T (p.Thr312Ile)
c.290C>T (p.Thr97Ile)
c.929C>T (p.Thr310Ile)
2g.115753276C>ACA428355421DPP10c.1053C>A (p.Thr351=)
c.1032C>A (p.Thr344=)
c.1065C>A (p.Thr355=)
c.903C>A (p.Thr301=)
c.1041C>A (p.Thr347=)
c.801C>A (p.Thr267=)
n.67+1459G>T
c.1104C>A (p.Thr368=)
c.963C>A (p.Thr321=)
c.936C>A (p.Thr312=)
c.291C>A (p.Thr97=)
c.930C>A (p.Thr310=)
2g.115753276C=CA1281312548DPP10c.1053C= (p.Thr351=)
c.1032C= (p.Thr344=)
c.1065C= (p.Thr355=)
c.903C= (p.Thr301=)
c.1041C= (p.Thr347=)
c.801C= (p.Thr267=)
n.67+1459G=
c.1104C= (p.Thr368=)
c.963C= (p.Thr321=)
c.936C= (p.Thr312=)
c.291C= (p.Thr97=)
c.930C= (p.Thr310=)
2g.115753276C>GCA428355427DPP10c.1053C>G (p.Thr351=)
c.1032C>G (p.Thr344=)
c.1065C>G (p.Thr355=)
c.903C>G (p.Thr301=)
c.1041C>G (p.Thr347=)
c.801C>G (p.Thr267=)
n.67+1459G>C
c.1104C>G (p.Thr368=)
c.963C>G (p.Thr321=)
c.936C>G (p.Thr312=)
c.291C>G (p.Thr97=)
c.930C>G (p.Thr310=)
dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.115753276C>TCA428355426DPP10c.1053C>T (p.Thr351=)
c.1032C>T (p.Thr344=)
c.1065C>T (p.Thr355=)
c.903C>T (p.Thr301=)
c.1041C>T (p.Thr347=)
c.801C>T (p.Thr267=)
n.67+1459G>A
c.1104C>T (p.Thr368=)
c.963C>T (p.Thr321=)
c.936C>T (p.Thr312=)
c.291C>T (p.Thr97=)
c.930C>T (p.Thr310=)
gnomAD v4
2g.115753277A>CCA348323593DPP10c.1054A>C (p.Thr352Pro)
c.1033A>C (p.Thr345Pro)
c.1066A>C (p.Thr356Pro)
c.904A>C (p.Thr302Pro)
c.1042A>C (p.Thr348Pro)
c.802A>C (p.Thr268Pro)
n.67+1458T>G
c.1105A>C (p.Thr369Pro)
c.964A>C (p.Thr322Pro)
c.937A>C (p.Thr313Pro)
c.292A>C (p.Thr98Pro)
c.931A>C (p.Thr311Pro)
2g.115753277A>GCA348323594DPP10c.1054A>G (p.Thr352Ala)
c.1033A>G (p.Thr345Ala)
c.1066A>G (p.Thr356Ala)
c.904A>G (p.Thr302Ala)
c.1042A>G (p.Thr348Ala)
c.802A>G (p.Thr268Ala)
n.67+1458T>C
c.1105A>G (p.Thr369Ala)
c.964A>G (p.Thr322Ala)
c.937A>G (p.Thr313Ala)
c.292A>G (p.Thr98Ala)
c.931A>G (p.Thr311Ala)
2g.115753277A>TCA348323595DPP10c.1054A>T (p.Thr352Ser)
c.1033A>T (p.Thr345Ser)
c.1066A>T (p.Thr356Ser)
c.904A>T (p.Thr302Ser)
c.1042A>T (p.Thr348Ser)
c.802A>T (p.Thr268Ser)
n.67+1458T>A
c.1105A>T (p.Thr369Ser)
c.964A>T (p.Thr322Ser)
c.937A>T (p.Thr313Ser)
c.292A>T (p.Thr98Ser)
c.931A>T (p.Thr311Ser)
gnomAD v4
2g.115753278C>ACA348323596DPP10c.1055C>A (p.Thr352Asn)
c.1034C>A (p.Thr345Asn)
c.1067C>A (p.Thr356Asn)
c.905C>A (p.Thr302Asn)
c.1043C>A (p.Thr348Asn)
c.803C>A (p.Thr268Asn)
n.67+1457G>T
c.1106C>A (p.Thr369Asn)
c.965C>A (p.Thr322Asn)
c.938C>A (p.Thr313Asn)
c.293C>A (p.Thr98Asn)
c.932C>A (p.Thr311Asn)
gnomAD v4
2g.115753278C>GCA348323597DPP10c.1055C>G (p.Thr352Ser)
c.1034C>G (p.Thr345Ser)
c.1067C>G (p.Thr356Ser)
c.905C>G (p.Thr302Ser)
c.1043C>G (p.Thr348Ser)
c.803C>G (p.Thr268Ser)
n.67+1457G>C
c.1106C>G (p.Thr369Ser)
c.965C>G (p.Thr322Ser)
c.938C>G (p.Thr313Ser)
c.293C>G (p.Thr98Ser)
c.932C>G (p.Thr311Ser)
2g.115753278C>TCA348323598DPP10c.1055C>T (p.Thr352Ile)
c.1034C>T (p.Thr345Ile)
c.1067C>T (p.Thr356Ile)
c.905C>T (p.Thr302Ile)
c.1043C>T (p.Thr348Ile)
c.803C>T (p.Thr268Ile)
n.67+1457G>A
c.1106C>T (p.Thr369Ile)
c.965C>T (p.Thr322Ile)
c.938C>T (p.Thr313Ile)
c.293C>T (p.Thr98Ile)
c.932C>T (p.Thr311Ile)
2g.115753278_115753279insAGCCA2660826736DPP10c.1055_1056insAGC (p.Thr352_Thr353insAla)
c.1034_1035insAGC (p.Thr345_Thr346insAla)
c.1067_1068insAGC (p.Thr356_Thr357insAla)
c.905_906insAGC (p.Thr302_Thr303insAla)
c.1043_1044insAGC (p.Thr348_Thr349insAla)
c.803_804insAGC (p.Thr268_Thr269insAla)
n.67+1457_67+1458insCTG
c.1106_1107insAGC (p.Thr369_Thr370insAla)
c.965_966insAGC (p.Thr322_Thr323insAla)
c.938_939insAGC (p.Thr313_Thr314insAla)
c.293_294insAGC (p.Thr98_Thr99insAla)
c.932_933insAGC (p.Thr311_Thr312insAla)
gnomAD v4
2g.115753279T>ACA428355446DPP10c.1056T>A (p.Thr352=)
c.1035T>A (p.Thr345=)
c.1068T>A (p.Thr356=)
c.906T>A (p.Thr302=)
c.1044T>A (p.Thr348=)
c.804T>A (p.Thr268=)
n.67+1456A>T
c.1107T>A (p.Thr369=)
c.966T>A (p.Thr322=)
c.939T>A (p.Thr313=)
c.294T>A (p.Thr98=)
c.933T>A (p.Thr311=)
2g.115753279T>CCA428355450DPP10c.1056T>C (p.Thr352=)
c.1035T>C (p.Thr345=)
c.1068T>C (p.Thr356=)
c.906T>C (p.Thr302=)
c.1044T>C (p.Thr348=)
c.804T>C (p.Thr268=)
n.67+1456A>G
c.1107T>C (p.Thr369=)
c.966T>C (p.Thr322=)
c.939T>C (p.Thr313=)
c.294T>C (p.Thr98=)
c.933T>C (p.Thr311=)
2g.115753279T>GCA428355456DPP10c.1056T>G (p.Thr352=)
c.1035T>G (p.Thr345=)
c.1068T>G (p.Thr356=)
c.906T>G (p.Thr302=)
c.1044T>G (p.Thr348=)
c.804T>G (p.Thr268=)
n.67+1456A>C
c.1107T>G (p.Thr369=)
c.966T>G (p.Thr322=)
c.939T>G (p.Thr313=)
c.294T>G (p.Thr98=)
c.933T>G (p.Thr311=)
2g.115753280A=CA1281312549DPP10c.1057A= (p.Thr353=)
c.1036A= (p.Thr346=)
c.1069A= (p.Thr357=)
c.907A= (p.Thr303=)
c.1045A= (p.Thr349=)
c.805A= (p.Thr269=)
n.67+1455T=
c.1108A= (p.Thr370=)
c.967A= (p.Thr323=)
c.940A= (p.Thr314=)
c.295A= (p.Thr99=)
c.934A= (p.Thr312=)
2g.115753280A>CCA348323599DPP10c.1057A>C (p.Thr353Pro)
c.1036A>C (p.Thr346Pro)
c.1069A>C (p.Thr357Pro)
c.907A>C (p.Thr303Pro)
c.1045A>C (p.Thr349Pro)
c.805A>C (p.Thr269Pro)
n.67+1455T>G
c.1108A>C (p.Thr370Pro)
c.967A>C (p.Thr323Pro)
c.940A>C (p.Thr314Pro)
c.295A>C (p.Thr99Pro)
c.934A>C (p.Thr312Pro)
2g.115753280A>GCA348323601DPP10c.1057A>G (p.Thr353Ala)
c.1036A>G (p.Thr346Ala)
c.1069A>G (p.Thr357Ala)
c.907A>G (p.Thr303Ala)
c.1045A>G (p.Thr349Ala)
c.805A>G (p.Thr269Ala)
n.67+1455T>C
c.1108A>G (p.Thr370Ala)
c.967A>G (p.Thr323Ala)
c.940A>G (p.Thr314Ala)
c.295A>G (p.Thr99Ala)
c.934A>G (p.Thr312Ala)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.115753280A>TCA348323600DPP10c.1057A>T (p.Thr353Ser)
c.1036A>T (p.Thr346Ser)
c.1069A>T (p.Thr357Ser)
c.907A>T (p.Thr303Ser)
c.1045A>T (p.Thr349Ser)
c.805A>T (p.Thr269Ser)
n.67+1455T>A
c.1108A>T (p.Thr370Ser)
c.967A>T (p.Thr323Ser)
c.940A>T (p.Thr314Ser)
c.295A>T (p.Thr99Ser)
c.934A>T (p.Thr312Ser)
2g.115753281_115753282delCA2577078170DPP10c.1058_1059del (p.Thr353ArgfsTer4)
c.1037_1038del (p.Thr346ArgfsTer4)
c.1070_1071del (p.Thr357ArgfsTer4)
c.908_909del (p.Thr303ArgfsTer4)
c.1046_1047del (p.Thr349ArgfsTer4)
c.806_807del (p.Thr269ArgfsTer4)
n.67+1454_67+1455del
c.1109_1110del (p.Thr370ArgfsTer4)
c.968_969del (p.Thr323ArgfsTer4)
c.941_942del (p.Thr314ArgfsTer4)
c.296_297del (p.Thr99ArgfsTer4)
c.935_936del (p.Thr312ArgfsTer4)
2g.115753281C>ACA348323602DPP10c.1058C>A (p.Thr353Lys)
c.1037C>A (p.Thr346Lys)
c.1070C>A (p.Thr357Lys)
c.908C>A (p.Thr303Lys)
c.1046C>A (p.Thr349Lys)
c.806C>A (p.Thr269Lys)
n.67+1454G>T
c.1109C>A (p.Thr370Lys)
c.968C>A (p.Thr323Lys)
c.941C>A (p.Thr314Lys)
c.296C>A (p.Thr99Lys)
c.935C>A (p.Thr312Lys)
gnomAD v4
2g.115753281C=CA1281312550DPP10c.1058C= (p.Thr353=)
c.1037C= (p.Thr346=)
c.1070C= (p.Thr357=)
c.908C= (p.Thr303=)
c.1046C= (p.Thr349=)
c.806C= (p.Thr269=)
n.67+1454G=
c.1109C= (p.Thr370=)
c.968C= (p.Thr323=)
c.941C= (p.Thr314=)
c.296C= (p.Thr99=)
c.935C= (p.Thr312=)
2g.115753281C>GCA348323604DPP10c.1058C>G (p.Thr353Arg)
c.1037C>G (p.Thr346Arg)
c.1070C>G (p.Thr357Arg)
c.908C>G (p.Thr303Arg)
c.1046C>G (p.Thr349Arg)
c.806C>G (p.Thr269Arg)
n.67+1454G>C
c.1109C>G (p.Thr370Arg)
c.968C>G (p.Thr323Arg)
c.941C>G (p.Thr314Arg)
c.296C>G (p.Thr99Arg)
c.935C>G (p.Thr312Arg)
2g.115753281C>TCA348323603DPP10c.1058C>T (p.Thr353Ile)
c.1037C>T (p.Thr346Ile)
c.1070C>T (p.Thr357Ile)
c.908C>T (p.Thr303Ile)
c.1046C>T (p.Thr349Ile)
c.806C>T (p.Thr269Ile)
n.67+1454G>A
c.1109C>T (p.Thr370Ile)
c.968C>T (p.Thr323Ile)
c.941C>T (p.Thr314Ile)
c.296C>T (p.Thr99Ile)
c.935C>T (p.Thr312Ile)
dbSNP gnomAD v2 gnomAD v4
2g.115753282A>CCA428355499DPP10c.1059A>C (p.Thr353=)
c.1038A>C (p.Thr346=)
c.1071A>C (p.Thr357=)
c.909A>C (p.Thr303=)
c.1047A>C (p.Thr349=)
c.807A>C (p.Thr269=)
n.67+1453T>G
c.1110A>C (p.Thr370=)
c.969A>C (p.Thr323=)
c.942A>C (p.Thr314=)
c.297A>C (p.Thr99=)
c.936A>C (p.Thr312=)
2g.115753282A>GCA428355501DPP10c.1059A>G (p.Thr353=)
c.1038A>G (p.Thr346=)
c.1071A>G (p.Thr357=)
c.909A>G (p.Thr303=)
c.1047A>G (p.Thr349=)
c.807A>G (p.Thr269=)
n.67+1453T>C
c.1110A>G (p.Thr370=)
c.969A>G (p.Thr323=)
c.942A>G (p.Thr314=)
c.297A>G (p.Thr99=)
c.936A>G (p.Thr312=)
gnomAD v4
2g.115753282A>TCA428355506DPP10c.1059A>T (p.Thr353=)
c.1038A>T (p.Thr346=)
c.1071A>T (p.Thr357=)
c.909A>T (p.Thr303=)
c.1047A>T (p.Thr349=)
c.807A>T (p.Thr269=)
n.67+1453T>A
c.1110A>T (p.Thr370=)
c.969A>T (p.Thr323=)
c.942A>T (p.Thr314=)
c.297A>T (p.Thr99=)
c.936A>T (p.Thr312=)
2g.115753283G>ACA348323605DPP10c.1060G>A (p.Gly354Ser)
c.1039G>A (p.Gly347Ser)
c.1072G>A (p.Gly358Ser)
c.910G>A (p.Gly304Ser)
c.1048G>A (p.Gly350Ser)
c.808G>A (p.Gly270Ser)
n.67+1452C>T
c.1111G>A (p.Gly371Ser)
c.970G>A (p.Gly324Ser)
c.943G>A (p.Gly315Ser)
c.298G>A (p.Gly100Ser)
c.937G>A (p.Gly313Ser)
2g.115753283G>CCA348323607DPP10c.1060G>C (p.Gly354Arg)
c.1039G>C (p.Gly347Arg)
c.1072G>C (p.Gly358Arg)
c.910G>C (p.Gly304Arg)
c.1048G>C (p.Gly350Arg)
c.808G>C (p.Gly270Arg)
n.67+1452C>G
c.1111G>C (p.Gly371Arg)
c.970G>C (p.Gly324Arg)
c.943G>C (p.Gly315Arg)
c.298G>C (p.Gly100Arg)
c.937G>C (p.Gly313Arg)
dbSNP gnomAD v4
2g.115753283G=CA1281312551DPP10c.1060G= (p.Gly354=)
c.1039G= (p.Gly347=)
c.1072G= (p.Gly358=)
c.910G= (p.Gly304=)
c.1048G= (p.Gly350=)
c.808G= (p.Gly270=)
n.67+1452C=
c.1111G= (p.Gly371=)
c.970G= (p.Gly324=)
c.943G= (p.Gly315=)
c.298G= (p.Gly100=)
c.937G= (p.Gly313=)
2g.115753283G>TCA348323606DPP10c.1060G>T (p.Gly354Cys)
c.1039G>T (p.Gly347Cys)
c.1072G>T (p.Gly358Cys)
c.910G>T (p.Gly304Cys)
c.1048G>T (p.Gly350Cys)
c.808G>T (p.Gly270Cys)
n.67+1452C>A
c.1111G>T (p.Gly371Cys)
c.970G>T (p.Gly324Cys)
c.943G>T (p.Gly315Cys)
c.298G>T (p.Gly100Cys)
c.937G>T (p.Gly313Cys)
2g.115753284G>ACA348323608DPP10c.1061G>A (p.Gly354Asp)
c.1040G>A (p.Gly347Asp)
c.1073G>A (p.Gly358Asp)
c.911G>A (p.Gly304Asp)
c.1049G>A (p.Gly350Asp)
c.809G>A (p.Gly270Asp)
n.67+1451C>T
c.1112G>A (p.Gly371Asp)
c.971G>A (p.Gly324Asp)
c.944G>A (p.Gly315Asp)
c.299G>A (p.Gly100Asp)
c.938G>A (p.Gly313Asp)
2g.115753284G>CCA348323609DPP10c.1061G>C (p.Gly354Ala)
c.1040G>C (p.Gly347Ala)
c.1073G>C (p.Gly358Ala)
c.911G>C (p.Gly304Ala)
c.1049G>C (p.Gly350Ala)
c.809G>C (p.Gly270Ala)
n.67+1451C>G
c.1112G>C (p.Gly371Ala)
c.971G>C (p.Gly324Ala)
c.944G>C (p.Gly315Ala)
c.299G>C (p.Gly100Ala)
c.938G>C (p.Gly313Ala)
2g.115753284G>TCA348323610DPP10c.1061G>T (p.Gly354Val)
c.1040G>T (p.Gly347Val)
c.1073G>T (p.Gly358Val)
c.911G>T (p.Gly304Val)
c.1049G>T (p.Gly350Val)
c.809G>T (p.Gly270Val)
n.67+1451C>A
c.1112G>T (p.Gly371Val)
c.971G>T (p.Gly324Val)
c.944G>T (p.Gly315Val)
c.299G>T (p.Gly100Val)
c.938G>T (p.Gly313Val)
2g.115753285T>ACA428355532DPP10c.1062T>A (p.Gly354=)
c.1041T>A (p.Gly347=)
c.1074T>A (p.Gly358=)
c.912T>A (p.Gly304=)
c.1050T>A (p.Gly350=)
c.810T>A (p.Gly270=)
n.67+1450A>T
c.1113T>A (p.Gly371=)
c.972T>A (p.Gly324=)
c.945T>A (p.Gly315=)
c.300T>A (p.Gly100=)
c.939T>A (p.Gly313=)
2g.115753285T>CCA428355552DPP10c.1062T>C (p.Gly354=)
c.1041T>C (p.Gly347=)
c.1074T>C (p.Gly358=)
c.912T>C (p.Gly304=)
c.1050T>C (p.Gly350=)
c.810T>C (p.Gly270=)
n.67+1450A>G
c.1113T>C (p.Gly371=)
c.972T>C (p.Gly324=)
c.945T>C (p.Gly315=)
c.300T>C (p.Gly100=)
c.939T>C (p.Gly313=)
2g.115753285T>GCA428355561DPP10c.1062T>G (p.Gly354=)
c.1041T>G (p.Gly347=)
c.1074T>G (p.Gly358=)
c.912T>G (p.Gly304=)
c.1050T>G (p.Gly350=)
c.810T>G (p.Gly270=)
n.67+1450A>C
c.1113T>G (p.Gly371=)
c.972T>G (p.Gly324=)
c.945T>G (p.Gly315=)
c.300T>G (p.Gly100=)
c.939T>G (p.Gly313=)
2g.115753286G>ACA348323611DPP10c.1063G>A (p.Ala355Thr)
c.1042G>A (p.Ala348Thr)
c.1075G>A (p.Ala359Thr)
c.913G>A (p.Ala305Thr)
c.1051G>A (p.Ala351Thr)
c.811G>A (p.Ala271Thr)
n.67+1449C>T
c.1114G>A (p.Ala372Thr)
c.973G>A (p.Ala325Thr)
c.946G>A (p.Ala316Thr)
c.301G>A (p.Ala101Thr)
c.940G>A (p.Ala314Thr)
dbSNP
2g.115753286G>CCA348323612DPP10c.1063G>C (p.Ala355Pro)
c.1042G>C (p.Ala348Pro)
c.1075G>C (p.Ala359Pro)
c.913G>C (p.Ala305Pro)
c.1051G>C (p.Ala351Pro)
c.811G>C (p.Ala271Pro)
n.67+1449C>G
c.1114G>C (p.Ala372Pro)
c.973G>C (p.Ala325Pro)
c.946G>C (p.Ala316Pro)
c.301G>C (p.Ala101Pro)
c.940G>C (p.Ala314Pro)
2g.115753286G=CA1281312552DPP10c.1063G= (p.Ala355=)
c.1042G= (p.Ala348=)
c.1075G= (p.Ala359=)
c.913G= (p.Ala305=)
c.1051G= (p.Ala351=)
c.811G= (p.Ala271=)
n.67+1449C=
c.1114G= (p.Ala372=)
c.973G= (p.Ala325=)
c.946G= (p.Ala316=)
c.301G= (p.Ala101=)
c.940G= (p.Ala314=)
2g.115753286G>TCA348323613DPP10c.1063G>T (p.Ala355Ser)
c.1042G>T (p.Ala348Ser)
c.1075G>T (p.Ala359Ser)
c.913G>T (p.Ala305Ser)
c.1051G>T (p.Ala351Ser)
c.811G>T (p.Ala271Ser)
n.67+1449C>A
c.1114G>T (p.Ala372Ser)
c.973G>T (p.Ala325Ser)
c.946G>T (p.Ala316Ser)
c.301G>T (p.Ala101Ser)
c.940G>T (p.Ala314Ser)
2g.115753287C>ACA348323614DPP10c.1064C>A (p.Ala355Asp)
c.1043C>A (p.Ala348Asp)
c.1076C>A (p.Ala359Asp)
c.914C>A (p.Ala305Asp)
c.1052C>A (p.Ala351Asp)
c.812C>A (p.Ala271Asp)
n.67+1448G>T
c.1115C>A (p.Ala372Asp)
c.974C>A (p.Ala325Asp)
c.947C>A (p.Ala316Asp)
c.302C>A (p.Ala101Asp)
c.941C>A (p.Ala314Asp)
2g.115753287C>GCA348323615DPP10c.1064C>G (p.Ala355Gly)
c.1043C>G (p.Ala348Gly)
c.1076C>G (p.Ala359Gly)
c.914C>G (p.Ala305Gly)
c.1052C>G (p.Ala351Gly)
c.812C>G (p.Ala271Gly)
n.67+1448G>C
c.1115C>G (p.Ala372Gly)
c.974C>G (p.Ala325Gly)
c.947C>G (p.Ala316Gly)
c.302C>G (p.Ala101Gly)
c.941C>G (p.Ala314Gly)
2g.115753287C>TCA348323616DPP10c.1064C>T (p.Ala355Val)
c.1043C>T (p.Ala348Val)
c.1076C>T (p.Ala359Val)
c.914C>T (p.Ala305Val)
c.1052C>T (p.Ala351Val)
c.812C>T (p.Ala271Val)
n.67+1448G>A
c.1115C>T (p.Ala372Val)
c.974C>T (p.Ala325Val)
c.947C>T (p.Ala316Val)
c.302C>T (p.Ala101Val)
c.941C>T (p.Ala314Val)
2g.115753287_115753288insAGGGCGCA2751813414DPP10c.1064_1065insAGGGCG (p.Ala355_Cys356insGlyArg)
c.1043_1044insAGGGCG (p.Ala348_Cys349insGlyArg)
c.1076_1077insAGGGCG (p.Ala359_Cys360insGlyArg)
c.914_915insAGGGCG (p.Ala305_Cys306insGlyArg)
c.1052_1053insAGGGCG (p.Ala351_Cys352insGlyArg)
c.812_813insAGGGCG (p.Ala271_Cys272insGlyArg)
n.67+1447_67+1448insCGCCCT
c.1115_1116insAGGGCG (p.Ala372_Cys373insGlyArg)
c.974_975insAGGGCG (p.Ala325_Cys326insGlyArg)
c.947_948insAGGGCG (p.Ala316_Cys317insGlyArg)
c.302_303insAGGGCG (p.Ala101_Cys102insGlyArg)
c.941_942insAGGGCG (p.Ala314_Cys315insGlyArg)
2g.115753288T>ACA428355603DPP10c.1065T>A (p.Ala355=)
c.1044T>A (p.Ala348=)
c.1077T>A (p.Ala359=)
c.915T>A (p.Ala305=)
c.1053T>A (p.Ala351=)
c.813T>A (p.Ala271=)
n.67+1447A>T
c.1116T>A (p.Ala372=)
c.975T>A (p.Ala325=)
c.948T>A (p.Ala316=)
c.303T>A (p.Ala101=)
c.942T>A (p.Ala314=)
2g.115753288T>CCA428355609DPP10c.1065T>C (p.Ala355=)
c.1044T>C (p.Ala348=)
c.1077T>C (p.Ala359=)
c.915T>C (p.Ala305=)
c.1053T>C (p.Ala351=)
c.813T>C (p.Ala271=)
n.67+1447A>G
c.1116T>C (p.Ala372=)
c.975T>C (p.Ala325=)
c.948T>C (p.Ala316=)
c.303T>C (p.Ala101=)
c.942T>C (p.Ala314=)
gnomAD v4
2g.115753288T>GCA428355614DPP10c.1065T>G (p.Ala355=)
c.1044T>G (p.Ala348=)
c.1077T>G (p.Ala359=)
c.915T>G (p.Ala305=)
c.1053T>G (p.Ala351=)
c.813T>G (p.Ala271=)
n.67+1447A>C
c.1116T>G (p.Ala372=)
c.975T>G (p.Ala325=)
c.948T>G (p.Ala316=)
c.303T>G (p.Ala101=)
c.942T>G (p.Ala314=)
2g.115753288_115753289insGCATGCTCGCTGCAGCCA2751813415DPP10c.1065_1066insGCATGCTCGCTGCAGC (p.Cys356AlafsTer7)
c.1044_1045insGCATGCTCGCTGCAGC (p.Cys349AlafsTer7)
c.1077_1078insGCATGCTCGCTGCAGC (p.Cys360AlafsTer7)
c.915_916insGCATGCTCGCTGCAGC (p.Cys306AlafsTer7)
c.1053_1054insGCATGCTCGCTGCAGC (p.Cys352AlafsTer7)
c.813_814insGCATGCTCGCTGCAGC (p.Cys272AlafsTer7)
n.67+1446_67+1447insGCTGCAGCGAGCATGC
c.1116_1117insGCATGCTCGCTGCAGC (p.Cys373AlafsTer7)
c.975_976insGCATGCTCGCTGCAGC (p.Cys326AlafsTer7)
c.948_949insGCATGCTCGCTGCAGC (p.Cys317AlafsTer7)
c.303_304insGCATGCTCGCTGCAGC (p.Cys102AlafsTer7)
c.942_943insGCATGCTCGCTGCAGC (p.Cys315AlafsTer7)
2g.115753289T>ACA348323617DPP10c.1066T>A (p.Cys356Ser)
c.1045T>A (p.Cys349Ser)
c.1078T>A (p.Cys360Ser)
c.916T>A (p.Cys306Ser)
c.1054T>A (p.Cys352Ser)
c.814T>A (p.Cys272Ser)
n.67+1446A>T
c.1117T>A (p.Cys373Ser)
c.976T>A (p.Cys326Ser)
c.949T>A (p.Cys317Ser)
c.304T>A (p.Cys102Ser)
c.943T>A (p.Cys315Ser)
2g.115753289T>CCA348323618DPP10c.1066T>C (p.Cys356Arg)
c.1045T>C (p.Cys349Arg)
c.1078T>C (p.Cys360Arg)
c.916T>C (p.Cys306Arg)
c.1054T>C (p.Cys352Arg)
c.814T>C (p.Cys272Arg)
n.67+1446A>G
c.1117T>C (p.Cys373Arg)
c.976T>C (p.Cys326Arg)
c.949T>C (p.Cys317Arg)
c.304T>C (p.Cys102Arg)
c.943T>C (p.Cys315Arg)
gnomAD v4
2g.115753289T>GCA348323619DPP10c.1066T>G (p.Cys356Gly)
c.1045T>G (p.Cys349Gly)
c.1078T>G (p.Cys360Gly)
c.916T>G (p.Cys306Gly)
c.1054T>G (p.Cys352Gly)
c.814T>G (p.Cys272Gly)
n.67+1446A>C
c.1117T>G (p.Cys373Gly)
c.976T>G (p.Cys326Gly)
c.949T>G (p.Cys317Gly)
c.304T>G (p.Cys102Gly)
c.943T>G (p.Cys315Gly)
2g.115753290G>ACA348323622DPP10c.1067G>A (p.Cys356Tyr)
c.1046G>A (p.Cys349Tyr)
c.1079G>A (p.Cys360Tyr)
c.917G>A (p.Cys306Tyr)
c.1055G>A (p.Cys352Tyr)
c.815G>A (p.Cys272Tyr)
n.67+1445C>T
c.1118G>A (p.Cys373Tyr)
c.977G>A (p.Cys326Tyr)
c.950G>A (p.Cys317Tyr)
c.305G>A (p.Cys102Tyr)
c.944G>A (p.Cys315Tyr)
2g.115753290G>CCA348323620DPP10c.1067G>C (p.Cys356Ser)
c.1046G>C (p.Cys349Ser)
c.1079G>C (p.Cys360Ser)
c.917G>C (p.Cys306Ser)
c.1055G>C (p.Cys352Ser)
c.815G>C (p.Cys272Ser)
n.67+1445C>G
c.1118G>C (p.Cys373Ser)
c.977G>C (p.Cys326Ser)
c.950G>C (p.Cys317Ser)
c.305G>C (p.Cys102Ser)
c.944G>C (p.Cys315Ser)
2g.115753290G>TCA348323621DPP10c.1067G>T (p.Cys356Phe)
c.1046G>T (p.Cys349Phe)
c.1079G>T (p.Cys360Phe)
c.917G>T (p.Cys306Phe)
c.1055G>T (p.Cys352Phe)
c.815G>T (p.Cys272Phe)
n.67+1445C>A
c.1118G>T (p.Cys373Phe)
c.977G>T (p.Cys326Phe)
c.950G>T (p.Cys317Phe)
c.305G>T (p.Cys102Phe)
c.944G>T (p.Cys315Phe)
2g.115753293_115753295delCA2660826737DPP10c.1070_1072del (p.Ser357del)
c.1049_1051del (p.Ser350del)
c.1082_1084del (p.Ser361del)
c.920_922del (p.Ser307del)
c.1058_1060del (p.Ser353del)
c.818_820del (p.Ser273del)
n.67+1443_67+1445del
c.1121_1123del (p.Ser374del)
c.980_982del (p.Ser327del)
c.953_955del (p.Ser318del)
c.308_310del (p.Ser103del)
c.947_949del (p.Ser316del)
gnomAD v4
2g.115753291T>ACA348323623DPP10c.1068T>A (p.Cys356Ter)
c.1047T>A (p.Cys349Ter)
c.1080T>A (p.Cys360Ter)
c.918T>A (p.Cys306Ter)
c.1056T>A (p.Cys352Ter)
c.816T>A (p.Cys272Ter)
n.67+1444A>T
c.1119T>A (p.Cys373Ter)
c.978T>A (p.Cys326Ter)
c.951T>A (p.Cys317Ter)
c.306T>A (p.Cys102Ter)
c.945T>A (p.Cys315Ter)
2g.115753291T>CCA428355630DPP10c.1068T>C (p.Cys356=)
c.1047T>C (p.Cys349=)
c.1080T>C (p.Cys360=)
c.918T>C (p.Cys306=)
c.1056T>C (p.Cys352=)
c.816T>C (p.Cys272=)
n.67+1444A>G
c.1119T>C (p.Cys373=)
c.978T>C (p.Cys326=)
c.951T>C (p.Cys317=)
c.306T>C (p.Cys102=)
c.945T>C (p.Cys315=)
gnomAD v4
2g.115753291T>GCA348323624DPP10c.1068T>G (p.Cys356Trp)
c.1047T>G (p.Cys349Trp)
c.1080T>G (p.Cys360Trp)
c.918T>G (p.Cys306Trp)
c.1056T>G (p.Cys352Trp)
c.816T>G (p.Cys272Trp)
n.67+1444A>C
c.1119T>G (p.Cys373Trp)
c.978T>G (p.Cys326Trp)
c.951T>G (p.Cys317Trp)
c.306T>G (p.Cys102Trp)
c.945T>G (p.Cys315Trp)
2g.115753292A>CCA348323625DPP10c.1069A>C (p.Ser357Arg)
c.1048A>C (p.Ser350Arg)
c.1081A>C (p.Ser361Arg)
c.919A>C (p.Ser307Arg)
c.1057A>C (p.Ser353Arg)
c.817A>C (p.Ser273Arg)
n.67+1443T>G
c.1120A>C (p.Ser374Arg)
c.979A>C (p.Ser327Arg)
c.952A>C (p.Ser318Arg)
c.307A>C (p.Ser103Arg)
c.946A>C (p.Ser316Arg)
2g.115753292A>GCA348323626DPP10c.1069A>G (p.Ser357Gly)
c.1048A>G (p.Ser350Gly)
c.1081A>G (p.Ser361Gly)
c.919A>G (p.Ser307Gly)
c.1057A>G (p.Ser353Gly)
c.817A>G (p.Ser273Gly)
n.67+1443T>C
c.1120A>G (p.Ser374Gly)
c.979A>G (p.Ser327Gly)
c.952A>G (p.Ser318Gly)
c.307A>G (p.Ser103Gly)
c.946A>G (p.Ser316Gly)
2g.115753292A>TCA348323627DPP10c.1069A>T (p.Ser357Cys)
c.1048A>T (p.Ser350Cys)
c.1081A>T (p.Ser361Cys)
c.919A>T (p.Ser307Cys)
c.1057A>T (p.Ser353Cys)
c.817A>T (p.Ser273Cys)
n.67+1443T>A
c.1120A>T (p.Ser374Cys)
c.979A>T (p.Ser327Cys)
c.952A>T (p.Ser318Cys)
c.307A>T (p.Ser103Cys)
c.946A>T (p.Ser316Cys)
2g.115753293G>ACA348323628DPP10c.1070G>A (p.Ser357Asn)
c.1049G>A (p.Ser350Asn)
c.1082G>A (p.Ser361Asn)
c.920G>A (p.Ser307Asn)
c.1058G>A (p.Ser353Asn)
c.818G>A (p.Ser273Asn)
n.67+1442C>T
c.1121G>A (p.Ser374Asn)
c.980G>A (p.Ser327Asn)
c.953G>A (p.Ser318Asn)
c.308G>A (p.Ser103Asn)
c.947G>A (p.Ser316Asn)
2g.115753293G>CCA348323629DPP10c.1070G>C (p.Ser357Thr)
c.1049G>C (p.Ser350Thr)
c.1082G>C (p.Ser361Thr)
c.920G>C (p.Ser307Thr)
c.1058G>C (p.Ser353Thr)
c.818G>C (p.Ser273Thr)
n.67+1442C>G
c.1121G>C (p.Ser374Thr)
c.980G>C (p.Ser327Thr)
c.953G>C (p.Ser318Thr)
c.308G>C (p.Ser103Thr)
c.947G>C (p.Ser316Thr)
2g.115753293G>TCA348323630DPP10c.1070G>T (p.Ser357Ile)
c.1049G>T (p.Ser350Ile)
c.1082G>T (p.Ser361Ile)
c.920G>T (p.Ser307Ile)
c.1058G>T (p.Ser353Ile)
c.818G>T (p.Ser273Ile)
n.67+1442C>A
c.1121G>T (p.Ser374Ile)
c.980G>T (p.Ser327Ile)
c.953G>T (p.Ser318Ile)
c.308G>T (p.Ser103Ile)
c.947G>T (p.Ser316Ile)
2g.115753294T>ACA348323631DPP10c.1071T>A (p.Ser357Arg)
c.1050T>A (p.Ser350Arg)
c.1083T>A (p.Ser361Arg)
c.921T>A (p.Ser307Arg)
c.1059T>A (p.Ser353Arg)
c.819T>A (p.Ser273Arg)
n.67+1441A>T
c.1122T>A (p.Ser374Arg)
c.981T>A (p.Ser327Arg)
c.954T>A (p.Ser318Arg)
c.309T>A (p.Ser103Arg)
c.948T>A (p.Ser316Arg)
2g.115753294T>CCA428355676DPP10c.1071T>C (p.Ser357=)
c.1050T>C (p.Ser350=)
c.1083T>C (p.Ser361=)
c.921T>C (p.Ser307=)
c.1059T>C (p.Ser353=)
c.819T>C (p.Ser273=)
n.67+1441A>G
c.1122T>C (p.Ser374=)
c.981T>C (p.Ser327=)
c.954T>C (p.Ser318=)
c.309T>C (p.Ser103=)
c.948T>C (p.Ser316=)
2g.115753294T>GCA348323632DPP10c.1071T>G (p.Ser357Arg)
c.1050T>G (p.Ser350Arg)
c.1083T>G (p.Ser361Arg)
c.921T>G (p.Ser307Arg)
c.1059T>G (p.Ser353Arg)
c.819T>G (p.Ser273Arg)
n.67+1441A>C
c.1122T>G (p.Ser374Arg)
c.981T>G (p.Ser327Arg)
c.954T>G (p.Ser318Arg)
c.309T>G (p.Ser103Arg)
c.948T>G (p.Ser316Arg)
2g.115753295A>CCA348323635DPP10c.1072A>C (p.Lys358Gln)
c.1051A>C (p.Lys351Gln)
c.1084A>C (p.Lys362Gln)
c.922A>C (p.Lys308Gln)
c.1060A>C (p.Lys354Gln)
c.820A>C (p.Lys274Gln)
n.67+1440T>G
c.1123A>C (p.Lys375Gln)
c.982A>C (p.Lys328Gln)
c.955A>C (p.Lys319Gln)
c.310A>C (p.Lys104Gln)
c.949A>C (p.Lys317Gln)
2g.115753295A>GCA348323634DPP10c.1072A>G (p.Lys358Glu)
c.1051A>G (p.Lys351Glu)
c.1084A>G (p.Lys362Glu)
c.922A>G (p.Lys308Glu)
c.1060A>G (p.Lys354Glu)
c.820A>G (p.Lys274Glu)
n.67+1440T>C
c.1123A>G (p.Lys375Glu)
c.982A>G (p.Lys328Glu)
c.955A>G (p.Lys319Glu)
c.310A>G (p.Lys104Glu)
c.949A>G (p.Lys317Glu)
gnomAD v4 COSMIC COSMIC
2g.115753295A>TCA348323633DPP10c.1072A>T (p.Lys358Ter)
c.1051A>T (p.Lys351Ter)
c.1084A>T (p.Lys362Ter)
c.922A>T (p.Lys308Ter)
c.1060A>T (p.Lys354Ter)
c.820A>T (p.Lys274Ter)
n.67+1440T>A
c.1123A>T (p.Lys375Ter)
c.982A>T (p.Lys328Ter)
c.955A>T (p.Lys319Ter)
c.310A>T (p.Lys104Ter)
c.949A>T (p.Lys317Ter)
2g.115753296A>CCA348323636DPP10c.1073A>C (p.Lys358Thr)
c.1052A>C (p.Lys351Thr)
c.1085A>C (p.Lys362Thr)
c.923A>C (p.Lys308Thr)
c.1061A>C (p.Lys354Thr)
c.821A>C (p.Lys274Thr)
n.67+1439T>G
c.1124A>C (p.Lys375Thr)
c.983A>C (p.Lys328Thr)
c.956A>C (p.Lys319Thr)
c.311A>C (p.Lys104Thr)
c.950A>C (p.Lys317Thr)
2g.115753296A>GCA348323637DPP10c.1073A>G (p.Lys358Arg)
c.1052A>G (p.Lys351Arg)
c.1085A>G (p.Lys362Arg)
c.923A>G (p.Lys308Arg)
c.1061A>G (p.Lys354Arg)
c.821A>G (p.Lys274Arg)
n.67+1439T>C
c.1124A>G (p.Lys375Arg)
c.983A>G (p.Lys328Arg)
c.956A>G (p.Lys319Arg)
c.311A>G (p.Lys104Arg)
c.950A>G (p.Lys317Arg)
2g.115753296A>TCA348323638DPP10c.1073A>T (p.Lys358Ile)
c.1052A>T (p.Lys351Ile)
c.1085A>T (p.Lys362Ile)
c.923A>T (p.Lys308Ile)
c.1061A>T (p.Lys354Ile)
c.821A>T (p.Lys274Ile)
n.67+1439T>A
c.1124A>T (p.Lys375Ile)
c.983A>T (p.Lys328Ile)
c.956A>T (p.Lys319Ile)
c.311A>T (p.Lys104Ile)
c.950A>T (p.Lys317Ile)
2g.115753297A>CCA348323639DPP10c.1074A>C (p.Lys358Asn)
c.1053A>C (p.Lys351Asn)
c.1086A>C (p.Lys362Asn)
c.924A>C (p.Lys308Asn)
c.1062A>C (p.Lys354Asn)
c.822A>C (p.Lys274Asn)
n.67+1438T>G
c.1125A>C (p.Lys375Asn)
c.984A>C (p.Lys328Asn)
c.957A>C (p.Lys319Asn)
c.312A>C (p.Lys104Asn)
c.951A>C (p.Lys317Asn)
2g.115753297A>GCA428355727DPP10c.1074A>G (p.Lys358=)
c.1053A>G (p.Lys351=)
c.1086A>G (p.Lys362=)
c.924A>G (p.Lys308=)
c.1062A>G (p.Lys354=)
c.822A>G (p.Lys274=)
n.67+1438T>C
c.1125A>G (p.Lys375=)
c.984A>G (p.Lys328=)
c.957A>G (p.Lys319=)
c.312A>G (p.Lys104=)
c.951A>G (p.Lys317=)
2g.115753297A>TCA348323640DPP10c.1074A>T (p.Lys358Asn)
c.1053A>T (p.Lys351Asn)
c.1086A>T (p.Lys362Asn)
c.924A>T (p.Lys308Asn)
c.1062A>T (p.Lys354Asn)
c.822A>T (p.Lys274Asn)
n.67+1438T>A
c.1125A>T (p.Lys375Asn)
c.984A>T (p.Lys328Asn)
c.957A>T (p.Lys319Asn)
c.312A>T (p.Lys104Asn)
c.951A>T (p.Lys317Asn)
2g.115753298G>ACA348323641DPP10c.1074+1G>A (n.1074+1G>A)
c.1053+1G>A (n.1053+1G>A)
c.1086+1G>A (n.1086+1G>A)
c.924+1G>A (n.924+1G>A)
c.1062+1G>A (n.1062+1G>A)
c.822+1G>A (n.822+1G>A)
n.67+1437C>T
c.1125+1G>A (n.1125+1G>A)
c.984+1G>A (n.984+1G>A)
c.957+1G>A (n.957+1G>A)
c.312+1G>A (n.312+1G>A)
c.951+1G>A (n.951+1G>A)
COSMIC
2g.115753298G>CCA348323642DPP10c.1074+1G>C (n.1074+1G>C)
c.1053+1G>C (n.1053+1G>C)
c.1086+1G>C (n.1086+1G>C)
c.924+1G>C (n.924+1G>C)
c.1062+1G>C (n.1062+1G>C)
c.822+1G>C (n.822+1G>C)
n.67+1437C>G
c.1125+1G>C (n.1125+1G>C)
c.984+1G>C (n.984+1G>C)
c.957+1G>C (n.957+1G>C)
c.312+1G>C (n.312+1G>C)
c.951+1G>C (n.951+1G>C)
2g.115753298G>TCA348323643DPP10c.1074+1G>T (n.1074+1G>T)
c.1053+1G>T (n.1053+1G>T)
c.1086+1G>T (n.1086+1G>T)
c.924+1G>T (n.924+1G>T)
c.1062+1G>T (n.1062+1G>T)
c.822+1G>T (n.822+1G>T)
n.67+1437C>A
c.1125+1G>T (n.1125+1G>T)
c.984+1G>T (n.984+1G>T)
c.957+1G>T (n.957+1G>T)
c.312+1G>T (n.312+1G>T)
c.951+1G>T (n.951+1G>T)
2g.115753299T>ACA348323644DPP10c.1074+2T>A (n.1074+2T>A)
c.1053+2T>A (n.1053+2T>A)
c.1086+2T>A (n.1086+2T>A)
c.924+2T>A (n.924+2T>A)
c.1062+2T>A (n.1062+2T>A)
c.822+2T>A (n.822+2T>A)
n.67+1436A>T
c.1125+2T>A (n.1125+2T>A)
c.984+2T>A (n.984+2T>A)
c.957+2T>A (n.957+2T>A)
c.312+2T>A (n.312+2T>A)
c.951+2T>A (n.951+2T>A)
2g.115753299T>CCA348323645DPP10c.1074+2T>C (n.1074+2T>C)
c.1053+2T>C (n.1053+2T>C)
c.1086+2T>C (n.1086+2T>C)
c.924+2T>C (n.924+2T>C)
c.1062+2T>C (n.1062+2T>C)
c.822+2T>C (n.822+2T>C)
n.67+1436A>G
c.1125+2T>C (n.1125+2T>C)
c.984+2T>C (n.984+2T>C)
c.957+2T>C (n.957+2T>C)
c.312+2T>C (n.312+2T>C)
c.951+2T>C (n.951+2T>C)
2g.115753299T>GCA348323646DPP10c.1074+2T>G (n.1074+2T>G)
c.1053+2T>G (n.1053+2T>G)
c.1086+2T>G (n.1086+2T>G)
c.924+2T>G (n.924+2T>G)
c.1062+2T>G (n.1062+2T>G)
c.822+2T>G (n.822+2T>G)
n.67+1436A>C
c.1125+2T>G (n.1125+2T>G)
c.984+2T>G (n.984+2T>G)
c.957+2T>G (n.957+2T>G)
c.312+2T>G (n.312+2T>G)
c.951+2T>G (n.951+2T>G)
2g.115753300G>ACA54497667DPP10c.1074+3G>A (n.1074+3G>A)
c.1053+3G>A (n.1053+3G>A)
c.1086+3G>A (n.1086+3G>A)
c.924+3G>A (n.924+3G>A)
c.1062+3G>A (n.1062+3G>A)
c.822+3G>A (n.822+3G>A)
n.67+1435C>T
c.1125+3G>A (n.1125+3G>A)
c.984+3G>A (n.984+3G>A)
c.957+3G>A (n.957+3G>A)
c.312+3G>A (n.312+3G>A)
c.951+3G>A (n.951+3G>A)
dbSNP COSMIC COSMIC COSMIC
2g.115753300G=CA1281312553DPP10c.1074+3G= (n.1074+3G=)
c.1053+3G= (n.1053+3G=)
c.1086+3G= (n.1086+3G=)
c.924+3G= (n.924+3G=)
c.1062+3G= (n.1062+3G=)
c.822+3G= (n.822+3G=)
n.67+1435C=
c.1125+3G= (n.1125+3G=)
c.984+3G= (n.984+3G=)
c.957+3G= (n.957+3G=)
c.312+3G= (n.312+3G=)
c.951+3G= (n.951+3G=)
2g.115753300G>TCA2660826738DPP10c.1074+3G>T (n.1074+3G>T)
c.1053+3G>T (n.1053+3G>T)
c.1086+3G>T (n.1086+3G>T)
c.924+3G>T (n.924+3G>T)
c.1062+3G>T (n.1062+3G>T)
c.822+3G>T (n.822+3G>T)
n.67+1435C>A
c.1125+3G>T (n.1125+3G>T)
c.984+3G>T (n.984+3G>T)
c.957+3G>T (n.957+3G>T)
c.312+3G>T (n.312+3G>T)
c.951+3G>T (n.951+3G>T)
gnomAD v4
2g.115753301A>GCA2660826739DPP10c.1074+4A>G (n.1074+4A>G)
c.1053+4A>G (n.1053+4A>G)
c.1086+4A>G (n.1086+4A>G)
c.924+4A>G (n.924+4A>G)
c.1062+4A>G (n.1062+4A>G)
c.822+4A>G (n.822+4A>G)
n.67+1434T>C
c.1125+4A>G (n.1125+4A>G)
c.984+4A>G (n.984+4A>G)
c.957+4A>G (n.957+4A>G)
c.312+4A>G (n.312+4A>G)
c.951+4A>G (n.951+4A>G)
gnomAD v4
2g.115753302G>TCA2660826740DPP10c.1074+5G>T (n.1074+5G>T)
c.1053+5G>T (n.1053+5G>T)
c.1086+5G>T (n.1086+5G>T)
c.924+5G>T (n.924+5G>T)
c.1062+5G>T (n.1062+5G>T)
c.822+5G>T (n.822+5G>T)
n.67+1433C>A
c.1125+5G>T (n.1125+5G>T)
c.984+5G>T (n.984+5G>T)
c.957+5G>T (n.957+5G>T)
c.312+5G>T (n.312+5G>T)
c.951+5G>T (n.951+5G>T)
gnomAD v4
2g.115753304A>GCA2660826741DPP10c.1074+7A>G (n.1074+7A>G)
c.1053+7A>G (n.1053+7A>G)
c.1086+7A>G (n.1086+7A>G)
c.924+7A>G (n.924+7A>G)
c.1062+7A>G (n.1062+7A>G)
c.822+7A>G (n.822+7A>G)
n.67+1431T>C
c.1125+7A>G (n.1125+7A>G)
c.984+7A>G (n.984+7A>G)
c.957+7A>G (n.957+7A>G)
c.312+7A>G (n.312+7A>G)
c.951+7A>G (n.951+7A>G)
gnomAD v4
2g.115753305T>ACA2660826742DPP10c.1074+8T>A (n.1074+8T>A)
c.1053+8T>A (n.1053+8T>A)
c.1086+8T>A (n.1086+8T>A)
c.924+8T>A (n.924+8T>A)
c.1062+8T>A (n.1062+8T>A)
c.822+8T>A (n.822+8T>A)
n.67+1430A>T
c.1125+8T>A (n.1125+8T>A)
c.984+8T>A (n.984+8T>A)
c.957+8T>A (n.957+8T>A)
c.312+8T>A (n.312+8T>A)
c.951+8T>A (n.951+8T>A)
gnomAD v4
2g.115753305T>CCA1843068DPP10c.1074+8T>C (n.1074+8T>C)
c.1053+8T>C (n.1053+8T>C)
c.1086+8T>C (n.1086+8T>C)
c.924+8T>C (n.924+8T>C)
c.1062+8T>C (n.1062+8T>C)
c.822+8T>C (n.822+8T>C)
n.67+1430A>G
c.1125+8T>C (n.1125+8T>C)
c.984+8T>C (n.984+8T>C)
c.957+8T>C (n.957+8T>C)
c.312+8T>C (n.312+8T>C)
c.951+8T>C (n.951+8T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.115753305T=CA1281312554DPP10c.1074+8T= (n.1074+8T=)
c.1053+8T= (n.1053+8T=)
c.1086+8T= (n.1086+8T=)
c.924+8T= (n.924+8T=)
c.1062+8T= (n.1062+8T=)
c.822+8T= (n.822+8T=)
n.67+1430A=
c.1125+8T= (n.1125+8T=)
c.984+8T= (n.984+8T=)
c.957+8T= (n.957+8T=)
c.312+8T= (n.312+8T=)
c.951+8T= (n.951+8T=)
2g.115753306A>GCA2660826743DPP10c.1074+9A>G (n.1074+9A>G)
c.1053+9A>G (n.1053+9A>G)
c.1086+9A>G (n.1086+9A>G)
c.924+9A>G (n.924+9A>G)
c.1062+9A>G (n.1062+9A>G)
c.822+9A>G (n.822+9A>G)
n.67+1429T>C
c.1125+9A>G (n.1125+9A>G)
c.984+9A>G (n.984+9A>G)
c.957+9A>G (n.957+9A>G)
c.312+9A>G (n.312+9A>G)
c.951+9A>G (n.951+9A>G)
gnomAD v4
2g.115753307A=CA1281312555DPP10c.1074+10A= (n.1074+10A=)
c.1053+10A= (n.1053+10A=)
c.1086+10A= (n.1086+10A=)
c.924+10A= (n.924+10A=)
c.1062+10A= (n.1062+10A=)
c.822+10A= (n.822+10A=)
n.67+1428T=
c.1125+10A= (n.1125+10A=)
c.984+10A= (n.984+10A=)
c.957+10A= (n.957+10A=)
c.312+10A= (n.312+10A=)
c.951+10A= (n.951+10A=)
2g.115753307A>GCA1843069DPP10c.1074+10A>G (n.1074+10A>G)
c.1053+10A>G (n.1053+10A>G)
c.1086+10A>G (n.1086+10A>G)
c.924+10A>G (n.924+10A>G)
c.1062+10A>G (n.1062+10A>G)
c.822+10A>G (n.822+10A>G)
n.67+1428T>C
c.1125+10A>G (n.1125+10A>G)
c.984+10A>G (n.984+10A>G)
c.957+10A>G (n.957+10A>G)
c.312+10A>G (n.312+10A>G)
c.951+10A>G (n.951+10A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.115753307A>TCA2660826744DPP10c.1074+10A>T (n.1074+10A>T)
c.1053+10A>T (n.1053+10A>T)
c.1086+10A>T (n.1086+10A>T)
c.924+10A>T (n.924+10A>T)
c.1062+10A>T (n.1062+10A>T)
c.822+10A>T (n.822+10A>T)
n.67+1428T>A
c.1125+10A>T (n.1125+10A>T)
c.984+10A>T (n.984+10A>T)
c.957+10A>T (n.957+10A>T)
c.312+10A>T (n.312+10A>T)
c.951+10A>T (n.951+10A>T)
gnomAD v4
2g.115753308T>CCA54497679DPP10c.1074+11T>C (n.1074+11T>C)
c.1053+11T>C (n.1053+11T>C)
c.1086+11T>C (n.1086+11T>C)
c.924+11T>C (n.924+11T>C)
c.1062+11T>C (n.1062+11T>C)
c.822+11T>C (n.822+11T>C)
n.67+1427A>G
c.1125+11T>C (n.1125+11T>C)
c.984+11T>C (n.984+11T>C)
c.957+11T>C (n.957+11T>C)
c.312+11T>C (n.312+11T>C)
c.951+11T>C (n.951+11T>C)
dbSNP gnomAD v4
2g.115753308T=CA1281312556DPP10c.1074+11T= (n.1074+11T=)
c.1053+11T= (n.1053+11T=)
c.1086+11T= (n.1086+11T=)
c.924+11T= (n.924+11T=)
c.1062+11T= (n.1062+11T=)
c.822+11T= (n.822+11T=)
n.67+1427A=
c.1125+11T= (n.1125+11T=)
c.984+11T= (n.984+11T=)
c.957+11T= (n.957+11T=)
c.312+11T= (n.312+11T=)
c.951+11T= (n.951+11T=)
2g.115753311A=CA1281312557DPP10c.1074+14A= (n.1074+14A=)
c.1053+14A= (n.1053+14A=)
c.1086+14A= (n.1086+14A=)
c.924+14A= (n.924+14A=)
c.1062+14A= (n.1062+14A=)
c.822+14A= (n.822+14A=)
n.67+1424T=
c.1125+14A= (n.1125+14A=)
c.984+14A= (n.984+14A=)
c.957+14A= (n.957+14A=)
c.312+14A= (n.312+14A=)
c.951+14A= (n.951+14A=)
2g.115753311A>CCA2700095243DPP10c.1074+14A>C (n.1074+14A>C)
c.1053+14A>C (n.1053+14A>C)
c.1086+14A>C (n.1086+14A>C)
c.924+14A>C (n.924+14A>C)
c.1062+14A>C (n.1062+14A>C)
c.822+14A>C (n.822+14A>C)
n.67+1424T>G
c.1125+14A>C (n.1125+14A>C)
c.984+14A>C (n.984+14A>C)
c.957+14A>C (n.957+14A>C)
c.312+14A>C (n.312+14A>C)
c.951+14A>C (n.951+14A>C)
dbSNP
2g.115753311A>GCA1281312558DPP10c.1074+14A>G (n.1074+14A>G)
c.1053+14A>G (n.1053+14A>G)
c.1086+14A>G (n.1086+14A>G)
c.924+14A>G (n.924+14A>G)
c.1062+14A>G (n.1062+14A>G)
c.822+14A>G (n.822+14A>G)
n.67+1424T>C
c.1125+14A>G (n.1125+14A>G)
c.984+14A>G (n.984+14A>G)
c.957+14A>G (n.957+14A>G)
c.312+14A>G (n.312+14A>G)
c.951+14A>G (n.951+14A>G)
dbSNP
2g.115753311A>TCA54497680DPP10c.1074+14A>T (n.1074+14A>T)
c.1053+14A>T (n.1053+14A>T)
c.1086+14A>T (n.1086+14A>T)
c.924+14A>T (n.924+14A>T)
c.1062+14A>T (n.1062+14A>T)
c.822+14A>T (n.822+14A>T)
n.67+1424T>A
c.1125+14A>T (n.1125+14A>T)
c.984+14A>T (n.984+14A>T)
c.957+14A>T (n.957+14A>T)
c.312+14A>T (n.312+14A>T)
c.951+14A>T (n.951+14A>T)
dbSNP gnomAD v4
2g.115753312T>ACA2660826745DPP10c.1074+15T>A (n.1074+15T>A)
c.1053+15T>A (n.1053+15T>A)
c.1086+15T>A (n.1086+15T>A)
c.924+15T>A (n.924+15T>A)
c.1062+15T>A (n.1062+15T>A)
c.822+15T>A (n.822+15T>A)
n.67+1423A>T
c.1125+15T>A (n.1125+15T>A)
c.984+15T>A (n.984+15T>A)
c.957+15T>A (n.957+15T>A)
c.312+15T>A (n.312+15T>A)
c.951+15T>A (n.951+15T>A)
gnomAD v4
2g.115753313T>ACA1035325365DPP10c.1074+16T>A (n.1074+16T>A)
c.1053+16T>A (n.1053+16T>A)
c.1086+16T>A (n.1086+16T>A)
c.924+16T>A (n.924+16T>A)
c.1062+16T>A (n.1062+16T>A)
c.822+16T>A (n.822+16T>A)
n.67+1422A>T
c.1125+16T>A (n.1125+16T>A)
c.984+16T>A (n.984+16T>A)
c.957+16T>A (n.957+16T>A)
c.312+16T>A (n.312+16T>A)
c.951+16T>A (n.951+16T>A)
dbSNP
2g.115753313T=CA1281312559DPP10c.1074+16T= (n.1074+16T=)
c.1053+16T= (n.1053+16T=)
c.1086+16T= (n.1086+16T=)
c.924+16T= (n.924+16T=)
c.1062+16T= (n.1062+16T=)
c.822+16T= (n.822+16T=)
n.67+1422A=
c.1125+16T= (n.1125+16T=)
c.984+16T= (n.984+16T=)
c.957+16T= (n.957+16T=)
c.312+16T= (n.312+16T=)
c.951+16T= (n.951+16T=)
2g.115753315T>CCA2660826746DPP10c.1074+18T>C (n.1074+18T>C)
c.1053+18T>C (n.1053+18T>C)
c.1086+18T>C (n.1086+18T>C)
c.924+18T>C (n.924+18T>C)
c.1062+18T>C (n.1062+18T>C)
c.822+18T>C (n.822+18T>C)
n.67+1420A>G
c.1125+18T>C (n.1125+18T>C)
c.984+18T>C (n.984+18T>C)
c.957+18T>C (n.957+18T>C)
c.312+18T>C (n.312+18T>C)
c.951+18T>C (n.951+18T>C)
gnomAD v4
2g.115753315_115753317delinsTTCCA1281312560DPP10c.1074+18_1074+20delinsTTC (n.1074+18_1074+20delinsTTC)
c.1053+18_1053+20delinsTTC (n.1053+18_1053+20delinsTTC)
c.1086+18_1086+20delinsTTC (n.1086+18_1086+20delinsTTC)
c.924+18_924+20delinsTTC (n.924+18_924+20delinsTTC)
c.1062+18_1062+20delinsTTC (n.1062+18_1062+20delinsTTC)
c.822+18_822+20delinsTTC (n.822+18_822+20delinsTTC)
n.67+1418_67+1420delinsGAA
c.1125+18_1125+20delinsTTC (n.1125+18_1125+20delinsTTC)
c.984+18_984+20delinsTTC (n.984+18_984+20delinsTTC)
c.957+18_957+20delinsTTC (n.957+18_957+20delinsTTC)
c.312+18_312+20delinsTTC (n.312+18_312+20delinsTTC)
c.951+18_951+20delinsTTC (n.951+18_951+20delinsTTC)
2g.115753317_115753318delCA755536052DPP10c.1074+20_1074+21del (n.1074+20_1074+21del)
c.1053+20_1053+21del (n.1053+20_1053+21del)
c.1086+20_1086+21del (n.1086+20_1086+21del)
c.924+20_924+21del (n.924+20_924+21del)
c.1062+20_1062+21del (n.1062+20_1062+21del)
c.822+20_822+21del (n.822+20_822+21del)
n.67+1418_67+1419del
c.1125+20_1125+21del (n.1125+20_1125+21del)
c.984+20_984+21del (n.984+20_984+21del)
c.957+20_957+21del (n.957+20_957+21del)
c.312+20_312+21del (n.312+20_312+21del)
c.951+20_951+21del (n.951+20_951+21del)
dbSNP
2g.115753317C>ACA1281312562DPP10c.1074+20C>A (n.1074+20C>A)
c.1053+20C>A (n.1053+20C>A)
c.1086+20C>A (n.1086+20C>A)
c.924+20C>A (n.924+20C>A)
c.1062+20C>A (n.1062+20C>A)
c.822+20C>A (n.822+20C>A)
n.67+1418G>T
c.1125+20C>A (n.1125+20C>A)
c.984+20C>A (n.984+20C>A)
c.957+20C>A (n.957+20C>A)
c.312+20C>A (n.312+20C>A)
c.951+20C>A (n.951+20C>A)
dbSNP
2g.115753317C=CA1281312561DPP10c.1074+20C= (n.1074+20C=)
c.1053+20C= (n.1053+20C=)
c.1086+20C= (n.1086+20C=)
c.924+20C= (n.924+20C=)
c.1062+20C= (n.1062+20C=)
c.822+20C= (n.822+20C=)
n.67+1418G=
c.1125+20C= (n.1125+20C=)
c.984+20C= (n.984+20C=)
c.957+20C= (n.957+20C=)
c.312+20C= (n.312+20C=)
c.951+20C= (n.951+20C=)
2g.115753317C>TCA54497686DPP10c.1074+20C>T (n.1074+20C>T)
c.1053+20C>T (n.1053+20C>T)
c.1086+20C>T (n.1086+20C>T)
c.924+20C>T (n.924+20C>T)
c.1062+20C>T (n.1062+20C>T)
c.822+20C>T (n.822+20C>T)
n.67+1418G>A
c.1125+20C>T (n.1125+20C>T)
c.984+20C>T (n.984+20C>T)
c.957+20C>T (n.957+20C>T)
c.312+20C>T (n.312+20C>T)
c.951+20C>T (n.951+20C>T)
dbSNP
2g.115753318T>CCA2660826747DPP10c.1074+21T>C (n.1074+21T>C)
c.1053+21T>C (n.1053+21T>C)
c.1086+21T>C (n.1086+21T>C)
c.924+21T>C (n.924+21T>C)
c.1062+21T>C (n.1062+21T>C)
c.822+21T>C (n.822+21T>C)
n.67+1417A>G
c.1125+21T>C (n.1125+21T>C)
c.984+21T>C (n.984+21T>C)
c.957+21T>C (n.957+21T>C)
c.312+21T>C (n.312+21T>C)
c.951+21T>C (n.951+21T>C)
gnomAD v4
2g.115753319T>CCA2660826748DPP10c.1074+22T>C (n.1074+22T>C)
c.1053+22T>C (n.1053+22T>C)
c.1086+22T>C (n.1086+22T>C)
c.924+22T>C (n.924+22T>C)
c.1062+22T>C (n.1062+22T>C)
c.822+22T>C (n.822+22T>C)
n.67+1416A>G
c.1125+22T>C (n.1125+22T>C)
c.984+22T>C (n.984+22T>C)
c.957+22T>C (n.957+22T>C)
c.312+22T>C (n.312+22T>C)
c.951+22T>C (n.951+22T>C)
gnomAD v4
2g.115753320T>CCA2660826749DPP10c.1074+23T>C (n.1074+23T>C)
c.1053+23T>C (n.1053+23T>C)
c.1086+23T>C (n.1086+23T>C)
c.924+23T>C (n.924+23T>C)
c.1062+23T>C (n.1062+23T>C)
c.822+23T>C (n.822+23T>C)
n.67+1415A>G
c.1125+23T>C (n.1125+23T>C)
c.984+23T>C (n.984+23T>C)
c.957+23T>C (n.957+23T>C)
c.312+23T>C (n.312+23T>C)
c.951+23T>C (n.951+23T>C)
gnomAD v4
2g.115753321T>GCA2527508472DPP10c.1074+24T>G (n.1074+24T>G)
c.1053+24T>G (n.1053+24T>G)
c.1086+24T>G (n.1086+24T>G)
c.924+24T>G (n.924+24T>G)
c.1062+24T>G (n.1062+24T>G)
c.822+24T>G (n.822+24T>G)
n.67+1414A>C
c.1125+24T>G (n.1125+24T>G)
c.984+24T>G (n.984+24T>G)
c.957+24T>G (n.957+24T>G)
c.312+24T>G (n.312+24T>G)
c.951+24T>G (n.951+24T>G)
2g.115753322A=CA1281312563DPP10c.1074+25A= (n.1074+25A=)
c.1053+25A= (n.1053+25A=)
c.1086+25A= (n.1086+25A=)
c.924+25A= (n.924+25A=)
c.1062+25A= (n.1062+25A=)
c.822+25A= (n.822+25A=)
n.67+1413T=
c.1125+25A= (n.1125+25A=)
c.984+25A= (n.984+25A=)
c.957+25A= (n.957+25A=)
c.312+25A= (n.312+25A=)
c.951+25A= (n.951+25A=)
2g.115753322A>GCA1843070DPP10c.1074+25A>G (n.1074+25A>G)
c.1053+25A>G (n.1053+25A>G)
c.1086+25A>G (n.1086+25A>G)
c.924+25A>G (n.924+25A>G)
c.1062+25A>G (n.1062+25A>G)
c.822+25A>G (n.822+25A>G)
n.67+1413T>C
c.1125+25A>G (n.1125+25A>G)
c.984+25A>G (n.984+25A>G)
c.957+25A>G (n.957+25A>G)
c.312+25A>G (n.312+25A>G)
c.951+25A>G (n.951+25A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.115753323T>CCA2660826750DPP10c.1074+26T>C (n.1074+26T>C)
c.1053+26T>C (n.1053+26T>C)
c.1086+26T>C (n.1086+26T>C)
c.924+26T>C (n.924+26T>C)
c.1062+26T>C (n.1062+26T>C)
c.822+26T>C (n.822+26T>C)
n.67+1412A>G
c.1125+26T>C (n.1125+26T>C)
c.984+26T>C (n.984+26T>C)
c.957+26T>C (n.957+26T>C)
c.312+26T>C (n.312+26T>C)
c.951+26T>C (n.951+26T>C)
gnomAD v4
2g.115753324G>ACA2660826751DPP10c.1074+27G>A (n.1074+27G>A)
c.1053+27G>A (n.1053+27G>A)
c.1086+27G>A (n.1086+27G>A)
c.924+27G>A (n.924+27G>A)
c.1062+27G>A (n.1062+27G>A)
c.822+27G>A (n.822+27G>A)
n.67+1411C>T
c.1125+27G>A (n.1125+27G>A)
c.984+27G>A (n.984+27G>A)
c.957+27G>A (n.957+27G>A)
c.312+27G>A (n.312+27G>A)
c.951+27G>A (n.951+27G>A)
gnomAD v4
2g.115753325C>ACA2577078171DPP10c.1074+28C>A (n.1074+28C>A)
c.1053+28C>A (n.1053+28C>A)
c.1086+28C>A (n.1086+28C>A)
c.924+28C>A (n.924+28C>A)
c.1062+28C>A (n.1062+28C>A)
c.822+28C>A (n.822+28C>A)
n.67+1410G>T
c.1125+28C>A (n.1125+28C>A)
c.984+28C>A (n.984+28C>A)
c.957+28C>A (n.957+28C>A)
c.312+28C>A (n.312+28C>A)
c.951+28C>A (n.951+28C>A)
gnomAD v4
2g.115753325C>TCA2660826752DPP10c.1074+28C>T (n.1074+28C>T)
c.1053+28C>T (n.1053+28C>T)
c.1086+28C>T (n.1086+28C>T)
c.924+28C>T (n.924+28C>T)
c.1062+28C>T (n.1062+28C>T)
c.822+28C>T (n.822+28C>T)
n.67+1410G>A
c.1125+28C>T (n.1125+28C>T)
c.984+28C>T (n.984+28C>T)
c.957+28C>T (n.957+28C>T)
c.312+28C>T (n.312+28C>T)
c.951+28C>T (n.951+28C>T)
gnomAD v4
2g.115753326C>ACA2660826753DPP10c.1074+29C>A (n.1074+29C>A)
c.1053+29C>A (n.1053+29C>A)
c.1086+29C>A (n.1086+29C>A)
c.924+29C>A (n.924+29C>A)
c.1062+29C>A (n.1062+29C>A)
c.822+29C>A (n.822+29C>A)
n.67+1409G>T
c.1125+29C>A (n.1125+29C>A)
c.984+29C>A (n.984+29C>A)
c.957+29C>A (n.957+29C>A)
c.312+29C>A (n.312+29C>A)
c.951+29C>A (n.951+29C>A)
gnomAD v4
2g.115753327T>CCA2660826754DPP10c.1074+30T>C (n.1074+30T>C)
c.1053+30T>C (n.1053+30T>C)
c.1086+30T>C (n.1086+30T>C)
c.924+30T>C (n.924+30T>C)
c.1062+30T>C (n.1062+30T>C)
c.822+30T>C (n.822+30T>C)
n.67+1408A>G
c.1125+30T>C (n.1125+30T>C)
c.984+30T>C (n.984+30T>C)
c.957+30T>C (n.957+30T>C)
c.312+30T>C (n.312+30T>C)
c.951+30T>C (n.951+30T>C)
gnomAD v4
2g.115753331delCA2660826755DPP10c.1074+34del (n.1074+34del)
c.1053+34del (n.1053+34del)
c.1086+34del (n.1086+34del)
c.924+34del (n.924+34del)
c.1062+34del (n.1062+34del)
c.822+34del (n.822+34del)
n.67+1407del
c.1125+34del (n.1125+34del)
c.984+34del (n.984+34del)
c.957+34del (n.957+34del)
c.312+34del (n.312+34del)
c.951+34del (n.951+34del)
gnomAD v4
2g.115753330A>TCA2660826756DPP10c.1074+33A>T (n.1074+33A>T)
c.1053+33A>T (n.1053+33A>T)
c.1086+33A>T (n.1086+33A>T)
c.924+33A>T (n.924+33A>T)
c.1062+33A>T (n.1062+33A>T)
c.822+33A>T (n.822+33A>T)
n.67+1405T>A
c.1125+33A>T (n.1125+33A>T)
c.984+33A>T (n.984+33A>T)
c.957+33A>T (n.957+33A>T)
c.312+33A>T (n.312+33A>T)
c.951+33A>T (n.951+33A>T)
gnomAD v4
2g.115753331A=CA1281312564DPP10c.1074+34A= (n.1074+34A=)
c.1053+34A= (n.1053+34A=)
c.1086+34A= (n.1086+34A=)
c.924+34A= (n.924+34A=)
c.1062+34A= (n.1062+34A=)
c.822+34A= (n.822+34A=)
n.67+1404T=
c.1125+34A= (n.1125+34A=)
c.984+34A= (n.984+34A=)
c.957+34A= (n.957+34A=)
c.312+34A= (n.312+34A=)
c.951+34A= (n.951+34A=)
2g.115753331A>GCA1843071DPP10c.1074+34A>G (n.1074+34A>G)
c.1053+34A>G (n.1053+34A>G)
c.1086+34A>G (n.1086+34A>G)
c.924+34A>G (n.924+34A>G)
c.1062+34A>G (n.1062+34A>G)
c.822+34A>G (n.822+34A>G)
n.67+1404T>C
c.1125+34A>G (n.1125+34A>G)
c.984+34A>G (n.984+34A>G)
c.957+34A>G (n.957+34A>G)
c.312+34A>G (n.312+34A>G)
c.951+34A>G (n.951+34A>G)
dbSNP ExAC gnomAD v2
2g.115753332T>CCA2660826757DPP10c.1074+35T>C (n.1074+35T>C)
c.1053+35T>C (n.1053+35T>C)
c.1086+35T>C (n.1086+35T>C)
c.924+35T>C (n.924+35T>C)
c.1062+35T>C (n.1062+35T>C)
c.822+35T>C (n.822+35T>C)
n.67+1403A>G
c.1125+35T>C (n.1125+35T>C)
c.984+35T>C (n.984+35T>C)
c.957+35T>C (n.957+35T>C)
c.312+35T>C (n.312+35T>C)
c.951+35T>C (n.951+35T>C)
gnomAD v4
2g.115753333G>ACA2660826758DPP10c.1074+36G>A (n.1074+36G>A)
c.1053+36G>A (n.1053+36G>A)
c.1086+36G>A (n.1086+36G>A)
c.924+36G>A (n.924+36G>A)
c.1062+36G>A (n.1062+36G>A)
c.822+36G>A (n.822+36G>A)
n.67+1402C>T
c.1125+36G>A (n.1125+36G>A)
c.984+36G>A (n.984+36G>A)
c.957+36G>A (n.957+36G>A)
c.312+36G>A (n.312+36G>A)
c.951+36G>A (n.951+36G>A)
gnomAD v4
2g.115753333G>TCA2660826759DPP10c.1074+36G>T (n.1074+36G>T)
c.1053+36G>T (n.1053+36G>T)
c.1086+36G>T (n.1086+36G>T)
c.924+36G>T (n.924+36G>T)
c.1062+36G>T (n.1062+36G>T)
c.822+36G>T (n.822+36G>T)
n.67+1402C>A
c.1125+36G>T (n.1125+36G>T)
c.984+36G>T (n.984+36G>T)
c.957+36G>T (n.957+36G>T)
c.312+36G>T (n.312+36G>T)
c.951+36G>T (n.951+36G>T)
gnomAD v4
2g.115753334A>GCA2660826760DPP10c.1074+37A>G (n.1074+37A>G)
c.1053+37A>G (n.1053+37A>G)
c.1086+37A>G (n.1086+37A>G)
c.924+37A>G (n.924+37A>G)
c.1062+37A>G (n.1062+37A>G)
c.822+37A>G (n.822+37A>G)
n.67+1401T>C
c.1125+37A>G (n.1125+37A>G)
c.984+37A>G (n.984+37A>G)
c.957+37A>G (n.957+37A>G)
c.312+37A>G (n.312+37A>G)
c.951+37A>G (n.951+37A>G)
gnomAD v4
2g.115753335A=CA1281312565DPP10c.1074+38A= (n.1074+38A=)
c.1053+38A= (n.1053+38A=)
c.1086+38A= (n.1086+38A=)
c.924+38A= (n.924+38A=)
c.1062+38A= (n.1062+38A=)
c.822+38A= (n.822+38A=)
n.67+1400T=
c.1125+38A= (n.1125+38A=)
c.984+38A= (n.984+38A=)
c.957+38A= (n.957+38A=)
c.312+38A= (n.312+38A=)
c.951+38A= (n.951+38A=)
2g.115753335A>GCA535260721DPP10c.1074+38A>G (n.1074+38A>G)
c.1053+38A>G (n.1053+38A>G)
c.1086+38A>G (n.1086+38A>G)
c.924+38A>G (n.924+38A>G)
c.1062+38A>G (n.1062+38A>G)
c.822+38A>G (n.822+38A>G)
n.67+1400T>C
c.1125+38A>G (n.1125+38A>G)
c.984+38A>G (n.984+38A>G)
c.957+38A>G (n.957+38A>G)
c.312+38A>G (n.312+38A>G)
c.951+38A>G (n.951+38A>G)
dbSNP gnomAD v2 gnomAD v4
2g.115753335A>TCA1281312566DPP10c.1074+38A>T (n.1074+38A>T)
c.1053+38A>T (n.1053+38A>T)
c.1086+38A>T (n.1086+38A>T)
c.924+38A>T (n.924+38A>T)
c.1062+38A>T (n.1062+38A>T)
c.822+38A>T (n.822+38A>T)
n.67+1400T>A
c.1125+38A>T (n.1125+38A>T)
c.984+38A>T (n.984+38A>T)
c.957+38A>T (n.957+38A>T)
c.312+38A>T (n.312+38A>T)
c.951+38A>T (n.951+38A>T)
dbSNP
2g.115753336G>ACA54497712DPP10c.1074+39G>A (n.1074+39G>A)
c.1053+39G>A (n.1053+39G>A)
c.1086+39G>A (n.1086+39G>A)
c.924+39G>A (n.924+39G>A)
c.1062+39G>A (n.1062+39G>A)
c.822+39G>A (n.822+39G>A)
n.67+1399C>T
c.1125+39G>A (n.1125+39G>A)
c.984+39G>A (n.984+39G>A)
c.957+39G>A (n.957+39G>A)
c.312+39G>A (n.312+39G>A)
c.951+39G>A (n.951+39G>A)
dbSNP
2g.115753336G=CA1281312567DPP10c.1074+39G= (n.1074+39G=)
c.1053+39G= (n.1053+39G=)
c.1086+39G= (n.1086+39G=)
c.924+39G= (n.924+39G=)
c.1062+39G= (n.1062+39G=)
c.822+39G= (n.822+39G=)
n.67+1399C=
c.1125+39G= (n.1125+39G=)
c.984+39G= (n.984+39G=)
c.957+39G= (n.957+39G=)
c.312+39G= (n.312+39G=)
c.951+39G= (n.951+39G=)
2g.115753340C>ACA2660826761DPP10c.1074+43C>A (n.1074+43C>A)
c.1053+43C>A (n.1053+43C>A)
c.1086+43C>A (n.1086+43C>A)
c.924+43C>A (n.924+43C>A)
c.1062+43C>A (n.1062+43C>A)
c.822+43C>A (n.822+43C>A)
n.67+1395G>T
c.1125+43C>A (n.1125+43C>A)
c.984+43C>A (n.984+43C>A)
c.957+43C>A (n.957+43C>A)
c.312+43C>A (n.312+43C>A)
c.951+43C>A (n.951+43C>A)
gnomAD v4
2g.115753340C=CA1281312568DPP10c.1074+43C= (n.1074+43C=)
c.1053+43C= (n.1053+43C=)
c.1086+43C= (n.1086+43C=)
c.924+43C= (n.924+43C=)
c.1062+43C= (n.1062+43C=)
c.822+43C= (n.822+43C=)
n.67+1395G=
c.1125+43C= (n.1125+43C=)
c.984+43C= (n.984+43C=)
c.957+43C= (n.957+43C=)
c.312+43C= (n.312+43C=)
c.951+43C= (n.951+43C=)
2g.115753340C>GCA2660826762DPP10c.1074+43C>G (n.1074+43C>G)
c.1053+43C>G (n.1053+43C>G)
c.1086+43C>G (n.1086+43C>G)
c.924+43C>G (n.924+43C>G)
c.1062+43C>G (n.1062+43C>G)
c.822+43C>G (n.822+43C>G)
n.67+1395G>C
c.1125+43C>G (n.1125+43C>G)
c.984+43C>G (n.984+43C>G)
c.957+43C>G (n.957+43C>G)
c.312+43C>G (n.312+43C>G)
c.951+43C>G (n.951+43C>G)
gnomAD v4
2g.115753340C>TCA535260722DPP10c.1074+43C>T (n.1074+43C>T)
c.1053+43C>T (n.1053+43C>T)
c.1086+43C>T (n.1086+43C>T)
c.924+43C>T (n.924+43C>T)
c.1062+43C>T (n.1062+43C>T)
c.822+43C>T (n.822+43C>T)
n.67+1395G>A
c.1125+43C>T (n.1125+43C>T)
c.984+43C>T (n.984+43C>T)
c.957+43C>T (n.957+43C>T)
c.312+43C>T (n.312+43C>T)
c.951+43C>T (n.951+43C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.115753341T>CCA2577078172DPP10c.1074+44T>C (n.1074+44T>C)
c.1053+44T>C (n.1053+44T>C)
c.1086+44T>C (n.1086+44T>C)
c.924+44T>C (n.924+44T>C)
c.1062+44T>C (n.1062+44T>C)
c.822+44T>C (n.822+44T>C)
n.67+1394A>G
c.1125+44T>C (n.1125+44T>C)
c.984+44T>C (n.984+44T>C)
c.957+44T>C (n.957+44T>C)
c.312+44T>C (n.312+44T>C)
c.951+44T>C (n.951+44T>C)
gnomAD v4
2g.115753341T>GCA2660826763DPP10c.1074+44T>G (n.1074+44T>G)
c.1053+44T>G (n.1053+44T>G)
c.1086+44T>G (n.1086+44T>G)
c.924+44T>G (n.924+44T>G)
c.1062+44T>G (n.1062+44T>G)
c.822+44T>G (n.822+44T>G)
n.67+1394A>C
c.1125+44T>G (n.1125+44T>G)
c.984+44T>G (n.984+44T>G)
c.957+44T>G (n.957+44T>G)
c.312+44T>G (n.312+44T>G)
c.951+44T>G (n.951+44T>G)
gnomAD v4
2g.115753342delCA2660826764DPP10c.1074+45del (n.1074+45del)
c.1053+45del (n.1053+45del)
c.1086+45del (n.1086+45del)
c.924+45del (n.924+45del)
c.1062+45del (n.1062+45del)
c.822+45del (n.822+45del)
n.67+1394del
c.1125+45del (n.1125+45del)
c.984+45del (n.984+45del)
c.957+45del (n.957+45del)
c.312+45del (n.312+45del)
c.951+45del (n.951+45del)
gnomAD v4

Number of alleles fetched