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)

Number of alleles fetched