Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.153954595G>ACA519702206HCFC1c.3804C>T (p.Thr1268=)
c.3606C>T (p.Thr1202=)
c.2895C>T (p.Thr965=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954595G>CCA519702210HCFC1c.3804C>G (p.Thr1268=)
c.3606C>G (p.Thr1202=)
c.2895C>G (p.Thr965=)
Xg.153954595G=CA2466540200HCFC1c.3804C= (p.Thr1268=)
c.3606C= (p.Thr1202=)
c.2895C= (p.Thr965=)
Xg.153954595G>TCA519702211HCFC1c.3804C>A (p.Thr1268=)
c.3606C>A (p.Thr1202=)
c.2895C>A (p.Thr965=)
Xg.153954596G>ACA415119300HCFC1c.3803C>T (p.Thr1268Ile)
c.3605C>T (p.Thr1202Ile)
c.2894C>T (p.Thr965Ile)
Xg.153954596G>CCA415119297HCFC1c.3803C>G (p.Thr1268Ser)
c.3605C>G (p.Thr1202Ser)
c.2894C>G (p.Thr965Ser)
Xg.153954596G>TCA415119298HCFC1c.3803C>A (p.Thr1268Asn)
c.3605C>A (p.Thr1202Asn)
c.2894C>A (p.Thr965Asn)
Xg.153954597T>ACA415119303HCFC1c.3802A>T (p.Thr1268Ser)
c.3604A>T (p.Thr1202Ser)
c.2893A>T (p.Thr965Ser)
Xg.153954597T>CCA415119305HCFC1c.3802A>G (p.Thr1268Ala)
c.3604A>G (p.Thr1202Ala)
c.2893A>G (p.Thr965Ala)
Xg.153954597T>GCA415119307HCFC1c.3802A>C (p.Thr1268Pro)
c.3604A>C (p.Thr1202Pro)
c.2893A>C (p.Thr965Pro)
Xg.153954598G>ACA519702218HCFC1c.3801C>T (p.Ser1267=)
c.3603C>T (p.Ser1201=)
c.2892C>T (p.Ser964=)
Xg.153954598G>CCA415119308HCFC1c.3801C>G (p.Ser1267Arg)
c.3603C>G (p.Ser1201Arg)
c.2892C>G (p.Ser964Arg)
Xg.153954598G>TCA415119309HCFC1c.3801C>A (p.Ser1267Arg)
c.3603C>A (p.Ser1201Arg)
c.2892C>A (p.Ser964Arg)
Xg.153954599C>ACA415119312HCFC1c.3800G>T (p.Ser1267Ile)
c.3602G>T (p.Ser1201Ile)
c.2891G>T (p.Ser964Ile)
 gnomAD v4
Xg.153954599C>GCA415119316HCFC1c.3800G>C (p.Ser1267Thr)
c.3602G>C (p.Ser1201Thr)
c.2891G>C (p.Ser964Thr)
Xg.153954599C>TCA415119315HCFC1c.3800G>A (p.Ser1267Asn)
c.3602G>A (p.Ser1201Asn)
c.2891G>A (p.Ser964Asn)
 gnomAD v4
Xg.153954600T>ACA415119319HCFC1c.3799A>T (p.Ser1267Cys)
c.3601A>T (p.Ser1201Cys)
c.2890A>T (p.Ser964Cys)
Xg.153954600T>CCA415119322HCFC1c.3799A>G (p.Ser1267Gly)
c.3601A>G (p.Ser1201Gly)
c.2890A>G (p.Ser964Gly)
 gnomAD v4
Xg.153954600T>GCA415119324HCFC1c.3799A>C (p.Ser1267Arg)
c.3601A>C (p.Ser1201Arg)
c.2890A>C (p.Ser964Arg)
Xg.153954601G>ACA519702224HCFC1c.3798C>T (p.Pro1266=)
c.3600C>T (p.Pro1200=)
c.2889C>T (p.Pro963=)
 ClinVar gnomAD v4
Xg.153954601G>CCA519702227HCFC1c.3798C>G (p.Pro1266=)
c.3600C>G (p.Pro1200=)
c.2889C>G (p.Pro963=)
Xg.153954601G>TCA519702229HCFC1c.3798C>A (p.Pro1266=)
c.3600C>A (p.Pro1200=)
c.2889C>A (p.Pro963=)
Xg.153954603delCA2579735260HCFC1c.3798del (p.Ser1267AlafsTer4)
c.3600del (p.Ser1201AlafsTer4)
c.2889del (p.Ser964AlafsTer4)
Xg.153954602G>ACA415119326HCFC1c.3797C>T (p.Pro1266Leu)
c.3599C>T (p.Pro1200Leu)
c.2888C>T (p.Pro963Leu)
Xg.153954602G>CCA415119327HCFC1c.3797C>G (p.Pro1266Arg)
c.3599C>G (p.Pro1200Arg)
c.2888C>G (p.Pro963Arg)
 dbSNP
Xg.153954602G=CA2466540201HCFC1c.3797C= (p.Pro1266=)
c.3599C= (p.Pro1200=)
c.2888C= (p.Pro963=)
Xg.153954602G>TCA415119330HCFC1c.3797C>A (p.Pro1266His)
c.3599C>A (p.Pro1200His)
c.2888C>A (p.Pro963His)
Xg.153954603G>ACA415119337HCFC1c.3796C>T (p.Pro1266Ser)
c.3598C>T (p.Pro1200Ser)
c.2887C>T (p.Pro963Ser)
 gnomAD v4
Xg.153954603G>CCA415119338HCFC1c.3796C>G (p.Pro1266Ala)
c.3598C>G (p.Pro1200Ala)
c.2887C>G (p.Pro963Ala)
Xg.153954603G>TCA415119339HCFC1c.3796C>A (p.Pro1266Thr)
c.3598C>A (p.Pro1200Thr)
c.2887C>A (p.Pro963Thr)
Xg.153954604C>ACA519702231HCFC1c.3795G>T (p.Ser1265=)
c.3597G>T (p.Ser1199=)
c.2886G>T (p.Ser962=)
Xg.153954604C=CA2466540202HCFC1c.3795G= (p.Ser1265=)
c.3597G= (p.Ser1199=)
c.2886G= (p.Ser962=)
Xg.153954604C>GCA519702232HCFC1c.3795G>C (p.Ser1265=)
c.3597G>C (p.Ser1199=)
c.2886G>C (p.Ser962=)
Xg.153954604C>TCA10557128HCFC1c.3795G>A (p.Ser1265=)
c.3597G>A (p.Ser1199=)
c.2886G>A (p.Ser962=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.153954605G>ACA10557129HCFC1c.3794C>T (p.Ser1265Leu)
c.3596C>T (p.Ser1199Leu)
c.2885C>T (p.Ser962Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954605G>CCA415119348HCFC1c.3794C>G (p.Ser1265Trp)
c.3596C>G (p.Ser1199Trp)
c.2885C>G (p.Ser962Trp)
Xg.153954605G=CA2466540203HCFC1c.3794C= (p.Ser1265=)
c.3596C= (p.Ser1199=)
c.2885C= (p.Ser962=)
Xg.153954605G>TCA415119345HCFC1c.3794C>A (p.Ser1265Ter)
c.3596C>A (p.Ser1199Ter)
c.2885C>A (p.Ser962Ter)
Xg.153954606A>CCA415119350HCFC1c.3793T>G (p.Ser1265Ala)
c.3595T>G (p.Ser1199Ala)
c.2884T>G (p.Ser962Ala)
Xg.153954606A>GCA415119354HCFC1c.3793T>C (p.Ser1265Pro)
c.3595T>C (p.Ser1199Pro)
c.2884T>C (p.Ser962Pro)
Xg.153954606A>TCA415119352HCFC1c.3793T>A (p.Ser1265Thr)
c.3595T>A (p.Ser1199Thr)
c.2884T>A (p.Ser962Thr)
Xg.153954607G>ACA519702243HCFC1c.3792C>T (p.Gly1264=)
c.3594C>T (p.Gly1198=)
c.2883C>T (p.Gly961=)
 ClinVar gnomAD v4
Xg.153954607G>CCA519702242HCFC1c.3792C>G (p.Gly1264=)
c.3594C>G (p.Gly1198=)
c.2883C>G (p.Gly961=)
Xg.153954607G>TCA519702238HCFC1c.3792C>A (p.Gly1264=)
c.3594C>A (p.Gly1198=)
c.2883C>A (p.Gly961=)
Xg.153954608C>ACA415119356HCFC1c.3791G>T (p.Gly1264Val)
c.3593G>T (p.Gly1198Val)
c.2882G>T (p.Gly961Val)
Xg.153954608C=CA2466540204HCFC1c.3791G= (p.Gly1264=)
c.3593G= (p.Gly1198=)
c.2882G= (p.Gly961=)
Xg.153954608C>GCA415119359HCFC1c.3791G>C (p.Gly1264Ala)
c.3593G>C (p.Gly1198Ala)
c.2882G>C (p.Gly961Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.153954608C>TCA415119361HCFC1c.3791G>A (p.Gly1264Asp)
c.3593G>A (p.Gly1198Asp)
c.2882G>A (p.Gly961Asp)
Xg.153954609C>ACA415119364HCFC1c.3790G>T (p.Gly1264Cys)
c.3592G>T (p.Gly1198Cys)
c.2881G>T (p.Gly961Cys)
Xg.153954609C>GCA415119366HCFC1c.3790G>C (p.Gly1264Arg)
c.3592G>C (p.Gly1198Arg)
c.2881G>C (p.Gly961Arg)
Xg.153954609C>TCA415119369HCFC1c.3790G>A (p.Gly1264Ser)
c.3592G>A (p.Gly1198Ser)
c.2881G>A (p.Gly961Ser)
Xg.153954610A>CCA519702246HCFC1c.3789T>G (p.Gly1263=)
c.3591T>G (p.Gly1197=)
c.2880T>G (p.Gly960=)
Xg.153954610A>GCA519702247HCFC1c.3789T>C (p.Gly1263=)
c.3591T>C (p.Gly1197=)
c.2880T>C (p.Gly960=)
Xg.153954610A>TCA519702248HCFC1c.3789T>A (p.Gly1263=)
c.3591T>A (p.Gly1197=)
c.2880T>A (p.Gly960=)
Xg.153954611C>ACA415119371HCFC1c.3788G>T (p.Gly1263Val)
c.3590G>T (p.Gly1197Val)
c.2879G>T (p.Gly960Val)
Xg.153954611C>GCA415119372HCFC1c.3788G>C (p.Gly1263Ala)
c.3590G>C (p.Gly1197Ala)
c.2879G>C (p.Gly960Ala)
Xg.153954611C>TCA415119374HCFC1c.3788G>A (p.Gly1263Asp)
c.3590G>A (p.Gly1197Asp)
c.2879G>A (p.Gly960Asp)
Xg.153954613delCA2579735261HCFC1c.3788del (p.Gly1263ValfsTer8)
c.3590del (p.Gly1197ValfsTer8)
c.2879del (p.Gly960ValfsTer8)
Xg.153954612C>ACA415119381HCFC1c.3787G>T (p.Gly1263Cys)
c.3589G>T (p.Gly1197Cys)
c.2878G>T (p.Gly960Cys)
 gnomAD v4
Xg.153954612C>GCA415119380HCFC1c.3787G>C (p.Gly1263Arg)
c.3589G>C (p.Gly1197Arg)
c.2878G>C (p.Gly960Arg)
Xg.153954612C>TCA415119377HCFC1c.3787G>A (p.Gly1263Ser)
c.3589G>A (p.Gly1197Ser)
c.2878G>A (p.Gly960Ser)
Xg.153954613C>ACA415119383HCFC1c.3786G>T (p.Gln1262His)
c.3588G>T (p.Gln1196His)
c.2877G>T (p.Gln959His)
Xg.153954613C>GCA415119386HCFC1c.3786G>C (p.Gln1262His)
c.3588G>C (p.Gln1196His)
c.2877G>C (p.Gln959His)
Xg.153954613C>TCA519702253HCFC1c.3786G>A (p.Gln1262=)
c.3588G>A (p.Gln1196=)
c.2877G>A (p.Gln959=)
Xg.153954614T>ACA415119389HCFC1c.3785A>T (p.Gln1262Leu)
c.3587A>T (p.Gln1196Leu)
c.2876A>T (p.Gln959Leu)
 gnomAD v4
Xg.153954614T>CCA415119391HCFC1c.3785A>G (p.Gln1262Arg)
c.3587A>G (p.Gln1196Arg)
c.2876A>G (p.Gln959Arg)
Xg.153954614T>GCA415119393HCFC1c.3785A>C (p.Gln1262Pro)
c.3587A>C (p.Gln1196Pro)
c.2876A>C (p.Gln959Pro)
Xg.153954615G>ACA415119395HCFC1c.3784C>T (p.Gln1262Ter)
c.3586C>T (p.Gln1196Ter)
c.2875C>T (p.Gln959Ter)
Xg.153954615G>CCA415119397HCFC1c.3784C>G (p.Gln1262Glu)
c.3586C>G (p.Gln1196Glu)
c.2875C>G (p.Gln959Glu)
Xg.153954615G>TCA415119400HCFC1c.3784C>A (p.Gln1262Lys)
c.3586C>A (p.Gln1196Lys)
c.2875C>A (p.Gln959Lys)
Xg.153954616G>ACA519702265HCFC1c.3783C>T (p.Leu1261=)
c.3585C>T (p.Leu1195=)
c.2874C>T (p.Leu958=)
 ClinVar
Xg.153954616G>CCA519702266HCFC1c.3783C>G (p.Leu1261=)
c.3585C>G (p.Leu1195=)
c.2874C>G (p.Leu958=)
Xg.153954616G>TCA519702267HCFC1c.3783C>A (p.Leu1261=)
c.3585C>A (p.Leu1195=)
c.2874C>A (p.Leu958=)
Xg.153954617A>CCA415119403HCFC1c.3782T>G (p.Leu1261Arg)
c.3584T>G (p.Leu1195Arg)
c.2873T>G (p.Leu958Arg)
Xg.153954617A>GCA415119405HCFC1c.3782T>C (p.Leu1261Pro)
c.3584T>C (p.Leu1195Pro)
c.2873T>C (p.Leu958Pro)
Xg.153954617A>TCA415119407HCFC1c.3782T>A (p.Leu1261His)
c.3584T>A (p.Leu1195His)
c.2873T>A (p.Leu958His)
Xg.153954618G>ACA415119413HCFC1c.3781C>T (p.Leu1261Phe)
c.3583C>T (p.Leu1195Phe)
c.2872C>T (p.Leu958Phe)
 gnomAD v4
Xg.153954618G>CCA415119414HCFC1c.3781C>G (p.Leu1261Val)
c.3583C>G (p.Leu1195Val)
c.2872C>G (p.Leu958Val)
Xg.153954618G=CA2466540205HCFC1c.3781C= (p.Leu1261=)
c.3583C= (p.Leu1195=)
c.2872C= (p.Leu958=)
Xg.153954618G>TCA415119410HCFC1c.3781C>A (p.Leu1261Ile)
c.3583C>A (p.Leu1195Ile)
c.2872C>A (p.Leu958Ile)
 dbSNP gnomAD v3 gnomAD v4
Xg.153954619G>ACA519702268HCFC1c.3780C>T (p.Ser1260=)
c.3582C>T (p.Ser1194=)
c.2871C>T (p.Ser957=)
Xg.153954619G>CCA415119416HCFC1c.3780C>G (p.Ser1260Arg)
c.3582C>G (p.Ser1194Arg)
c.2871C>G (p.Ser957Arg)
Xg.153954619G=CA2466540206HCFC1c.3780C= (p.Ser1260=)
c.3582C= (p.Ser1194=)
c.2871C= (p.Ser957=)
Xg.153954619G>TCA415119419HCFC1c.3780C>A (p.Ser1260Arg)
c.3582C>A (p.Ser1194Arg)
c.2871C>A (p.Ser957Arg)
 dbSNP
Xg.153954620C>ACA415119421HCFC1c.3779G>T (p.Ser1260Ile)
c.3581G>T (p.Ser1194Ile)
c.2870G>T (p.Ser957Ile)
 ClinVar dbSNP
Xg.153954620C=CA2466540207HCFC1c.3779G= (p.Ser1260=)
c.3581G= (p.Ser1194=)
c.2870G= (p.Ser957=)
Xg.153954620C>GCA415119425HCFC1c.3779G>C (p.Ser1260Thr)
c.3581G>C (p.Ser1194Thr)
c.2870G>C (p.Ser957Thr)
Xg.153954620C>TCA415119427HCFC1c.3779G>A (p.Ser1260Asn)
c.3581G>A (p.Ser1194Asn)
c.2870G>A (p.Ser957Asn)
Xg.153954621T>ACA415119434HCFC1c.3778A>T (p.Ser1260Cys)
c.3580A>T (p.Ser1194Cys)
c.2869A>T (p.Ser957Cys)
Xg.153954621T>CCA415119430HCFC1c.3778A>G (p.Ser1260Gly)
c.3580A>G (p.Ser1194Gly)
c.2869A>G (p.Ser957Gly)
Xg.153954621T>GCA415119433HCFC1c.3778A>C (p.Ser1260Arg)
c.3580A>C (p.Ser1194Arg)
c.2869A>C (p.Ser957Arg)
Xg.153954622C>ACA415119437HCFC1c.3777G>T (p.Glu1259Asp)
c.3579G>T (p.Glu1193Asp)
c.2868G>T (p.Glu956Asp)
Xg.153954622C>GCA415119438HCFC1c.3777G>C (p.Glu1259Asp)
c.3579G>C (p.Glu1193Asp)
c.2868G>C (p.Glu956Asp)
Xg.153954622C>TCA519702273HCFC1c.3777G>A (p.Glu1259=)
c.3579G>A (p.Glu1193=)
c.2868G>A (p.Glu956=)
Xg.153954623T>ACA415119441HCFC1c.3776A>T (p.Glu1259Val)
c.3578A>T (p.Glu1193Val)
c.2867A>T (p.Glu956Val)
 dbSNP
Xg.153954623T>CCA415119444HCFC1c.3776A>G (p.Glu1259Gly)
c.3578A>G (p.Glu1193Gly)
c.2867A>G (p.Glu956Gly)
Xg.153954623T>GCA415119446HCFC1c.3776A>C (p.Glu1259Ala)
c.3578A>C (p.Glu1193Ala)
c.2867A>C (p.Glu956Ala)
Xg.153954623T=CA2466540208HCFC1c.3776A= (p.Glu1259=)
c.3578A= (p.Glu1193=)
c.2867A= (p.Glu956=)
Xg.153954624C>ACA415119448HCFC1c.3775G>T (p.Glu1259Ter)
c.3577G>T (p.Glu1193Ter)
c.2866G>T (p.Glu956Ter)
Xg.153954624C=CA2466540209HCFC1c.3775G= (p.Glu1259=)
c.3577G= (p.Glu1193=)
c.2866G= (p.Glu956=)
Xg.153954624C>GCA415119451HCFC1c.3775G>C (p.Glu1259Gln)
c.3577G>C (p.Glu1193Gln)
c.2866G>C (p.Glu956Gln)
 dbSNP
Xg.153954624C>TCA10557130HCFC1c.3775G>A (p.Glu1259Lys)
c.3577G>A (p.Glu1193Lys)
c.2866G>A (p.Glu956Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954625G>ACA519702281HCFC1c.3774C>T (p.Cys1258=)
c.3576C>T (p.Cys1192=)
c.2865C>T (p.Cys955=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.153954625G>CCA415119454HCFC1c.3774C>G (p.Cys1258Trp)
c.3576C>G (p.Cys1192Trp)
c.2865C>G (p.Cys955Trp)
Xg.153954625G=CA2466540210HCFC1c.3774C= (p.Cys1258=)
c.3576C= (p.Cys1192=)
c.2865C= (p.Cys955=)
Xg.153954625G>TCA415119456HCFC1c.3774C>A (p.Cys1258Ter)
c.3576C>A (p.Cys1192Ter)
c.2865C>A (p.Cys955Ter)
Xg.153954626C>ACA415119459HCFC1c.3773G>T (p.Cys1258Phe)
c.3575G>T (p.Cys1192Phe)
c.2864G>T (p.Cys955Phe)
Xg.153954626C>GCA415119462HCFC1c.3773G>C (p.Cys1258Ser)
c.3575G>C (p.Cys1192Ser)
c.2864G>C (p.Cys955Ser)
 COSMIC COSMIC
Xg.153954626C>TCA415119463HCFC1c.3773G>A (p.Cys1258Tyr)
c.3575G>A (p.Cys1192Tyr)
c.2864G>A (p.Cys955Tyr)
 gnomAD v4
Xg.153954627A>CCA415119465HCFC1c.3772T>G (p.Cys1258Gly)
c.3574T>G (p.Cys1192Gly)
c.2863T>G (p.Cys955Gly)
Xg.153954627A>GCA415119466HCFC1c.3772T>C (p.Cys1258Arg)
c.3574T>C (p.Cys1192Arg)
c.2863T>C (p.Cys955Arg)
Xg.153954627A>TCA415119468HCFC1c.3772T>A (p.Cys1258Ser)
c.3574T>A (p.Cys1192Ser)
c.2863T>A (p.Cys955Ser)
Xg.153954628C>ACA519702289HCFC1c.3771G>T (p.Val1257=)
c.3573G>T (p.Val1191=)
c.2862G>T (p.Val954=)
Xg.153954628C>GCA519702292HCFC1c.3771G>C (p.Val1257=)
c.3573G>C (p.Val1191=)
c.2862G>C (p.Val954=)
Xg.153954628C>TCA519702294HCFC1c.3771G>A (p.Val1257=)
c.3573G>A (p.Val1191=)
c.2862G>A (p.Val954=)
Xg.153954629A>CCA415119471HCFC1c.3770T>G (p.Val1257Gly)
c.3572T>G (p.Val1191Gly)
c.2861T>G (p.Val954Gly)
Xg.153954629A>GCA415119472HCFC1c.3770T>C (p.Val1257Ala)
c.3572T>C (p.Val1191Ala)
c.2861T>C (p.Val954Ala)
Xg.153954629A>TCA415119476HCFC1c.3770T>A (p.Val1257Glu)
c.3572T>A (p.Val1191Glu)
c.2861T>A (p.Val954Glu)
 COSMIC COSMIC
Xg.153954630C>ACA415119479HCFC1c.3769G>T (p.Val1257Leu)
c.3571G>T (p.Val1191Leu)
c.2860G>T (p.Val954Leu)
Xg.153954630C>GCA415119483HCFC1c.3769G>C (p.Val1257Leu)
c.3571G>C (p.Val1191Leu)
c.2860G>C (p.Val954Leu)
Xg.153954630C>TCA415119481HCFC1c.3769G>A (p.Val1257Met)
c.3571G>A (p.Val1191Met)
c.2860G>A (p.Val954Met)
Xg.153954631A>CCA519702299HCFC1c.3768T>G (p.Pro1256=)
c.3570T>G (p.Pro1190=)
c.2859T>G (p.Pro953=)
Xg.153954631A>GCA519702302HCFC1c.3768T>C (p.Pro1256=)
c.3570T>C (p.Pro1190=)
c.2859T>C (p.Pro953=)
 gnomAD v4
Xg.153954631A>TCA519702303HCFC1c.3768T>A (p.Pro1256=)
c.3570T>A (p.Pro1190=)
c.2859T>A (p.Pro953=)
Xg.153954632G>ACA415119487HCFC1c.3767C>T (p.Pro1256Leu)
c.3569C>T (p.Pro1190Leu)
c.2858C>T (p.Pro953Leu)
 ClinVar
Xg.153954632G>CCA10557131HCFC1c.3767C>G (p.Pro1256Arg)
c.3569C>G (p.Pro1190Arg)
c.2858C>G (p.Pro953Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954632G=CA2466540211HCFC1c.3767C= (p.Pro1256=)
c.3569C= (p.Pro1190=)
c.2858C= (p.Pro953=)
Xg.153954632G>TCA415119490HCFC1c.3767C>A (p.Pro1256His)
c.3569C>A (p.Pro1190His)
c.2858C>A (p.Pro953His)
Xg.153954633G>ACA10557132HCFC1c.3766C>T (p.Pro1256Ser)
c.3568C>T (p.Pro1190Ser)
c.2857C>T (p.Pro953Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.153954633G>CCA415119495HCFC1c.3766C>G (p.Pro1256Ala)
c.3568C>G (p.Pro1190Ala)
c.2857C>G (p.Pro953Ala)
Xg.153954633G=CA2466540212HCFC1c.3766C= (p.Pro1256=)
c.3568C= (p.Pro1190=)
c.2857C= (p.Pro953=)
Xg.153954633G>TCA415119497HCFC1c.3766C>A (p.Pro1256Thr)
c.3568C>A (p.Pro1190Thr)
c.2857C>A (p.Pro953Thr)
Xg.153954634T>ACA519702310HCFC1c.3765A>T (p.Ala1255=)
c.3567A>T (p.Ala1189=)
c.2856A>T (p.Ala952=)
Xg.153954634T>CCA519702314HCFC1c.3765A>G (p.Ala1255=)
c.3567A>G (p.Ala1189=)
c.2856A>G (p.Ala952=)
 gnomAD v4
Xg.153954634T>GCA519702312HCFC1c.3765A>C (p.Ala1255=)
c.3567A>C (p.Ala1189=)
c.2856A>C (p.Ala952=)
Xg.153954635G>ACA415119498HCFC1c.3764C>T (p.Ala1255Val)
c.3566C>T (p.Ala1189Val)
c.2855C>T (p.Ala952Val)
Xg.153954635G>CCA415119501HCFC1c.3764C>G (p.Ala1255Gly)
c.3566C>G (p.Ala1189Gly)
c.2855C>G (p.Ala952Gly)
Xg.153954635G>TCA415119508HCFC1c.3764C>A (p.Ala1255Glu)
c.3566C>A (p.Ala1189Glu)
c.2855C>A (p.Ala952Glu)
Xg.153954636C>ACA415119513HCFC1c.3763G>T (p.Ala1255Ser)
c.3565G>T (p.Ala1189Ser)
c.2854G>T (p.Ala952Ser)
Xg.153954636C>GCA415119515HCFC1c.3763G>C (p.Ala1255Pro)
c.3565G>C (p.Ala1189Pro)
c.2854G>C (p.Ala952Pro)
Xg.153954636C>TCA415119517HCFC1c.3763G>A (p.Ala1255Thr)
c.3565G>A (p.Ala1189Thr)
c.2854G>A (p.Ala952Thr)
Xg.153954637C>ACA415119521HCFC1c.3762G>T (p.Met1254Ile)
c.3564G>T (p.Met1188Ile)
c.2853G>T (p.Met951Ile)
Xg.153954637C=CA2466540213HCFC1c.3762G= (p.Met1254=)
c.3564G= (p.Met1188=)
c.2853G= (p.Met951=)
Xg.153954637C>GCA415119523HCFC1c.3762G>C (p.Met1254Ile)
c.3564G>C (p.Met1188Ile)
c.2853G>C (p.Met951Ile)
Xg.153954637C>TCA415119525HCFC1c.3762G>A (p.Met1254Ile)
c.3564G>A (p.Met1188Ile)
c.2853G>A (p.Met951Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954638A>CCA415119532HCFC1c.3761T>G (p.Met1254Arg)
c.3563T>G (p.Met1188Arg)
c.2852T>G (p.Met951Arg)
Xg.153954638A>GCA415119529HCFC1c.3761T>C (p.Met1254Thr)
c.3563T>C (p.Met1188Thr)
c.2852T>C (p.Met951Thr)
Xg.153954638A>TCA415119528HCFC1c.3761T>A (p.Met1254Lys)
c.3563T>A (p.Met1188Lys)
c.2852T>A (p.Met951Lys)
Xg.153954639T>ACA415119534HCFC1c.3760A>T (p.Met1254Leu)
c.3562A>T (p.Met1188Leu)
c.2851A>T (p.Met951Leu)
Xg.153954639T>CCA10557133HCFC1c.3760A>G (p.Met1254Val)
c.3562A>G (p.Met1188Val)
c.2851A>G (p.Met951Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954639T>GCA415119538HCFC1c.3760A>C (p.Met1254Leu)
c.3562A>C (p.Met1188Leu)
c.2851A>C (p.Met951Leu)
Xg.153954639T=CA2466540214HCFC1c.3760A= (p.Met1254=)
c.3562A= (p.Met1188=)
c.2851A= (p.Met951=)
Xg.153954640G>ACA519702329HCFC1c.3759C>T (p.Arg1253=)
c.3561C>T (p.Arg1187=)
c.2850C>T (p.Arg950=)
Xg.153954640G>CCA519702330HCFC1c.3759C>G (p.Arg1253=)
c.3561C>G (p.Arg1187=)
c.2850C>G (p.Arg950=)
Xg.153954640G>TCA519702332HCFC1c.3759C>A (p.Arg1253=)
c.3561C>A (p.Arg1187=)
c.2850C>A (p.Arg950=)
Xg.153954641C>ACA10557135HCFC1c.3758G>T (p.Arg1253Leu)
c.3560G>T (p.Arg1187Leu)
c.2849G>T (p.Arg950Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.153954641C=CA2466540215HCFC1c.3758G= (p.Arg1253=)
c.3560G= (p.Arg1187=)
c.2849G= (p.Arg950=)
Xg.153954641C>GCA10557136HCFC1c.3758G>C (p.Arg1253Pro)
c.3560G>C (p.Arg1187Pro)
c.2849G>C (p.Arg950Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.153954641C>TCA10557134HCFC1c.3758G>A (p.Arg1253His)
c.3560G>A (p.Arg1187His)
c.2849G>A (p.Arg950His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954642G>ACA10557137HCFC1c.3757C>T (p.Arg1253Cys)
c.3559C>T (p.Arg1187Cys)
c.2848C>T (p.Arg950Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954642G>CCA415119547HCFC1c.3757C>G (p.Arg1253Gly)
c.3559C>G (p.Arg1187Gly)
c.2848C>G (p.Arg950Gly)
Xg.153954642G=CA2466540216HCFC1c.3757C= (p.Arg1253=)
c.3559C= (p.Arg1187=)
c.2848C= (p.Arg950=)
Xg.153954642G>TCA415119549HCFC1c.3757C>A (p.Arg1253Ser)
c.3559C>A (p.Arg1187Ser)
c.2848C>A (p.Arg950Ser)
Xg.153954643G>ACA519702342HCFC1c.3756C>T (p.Pro1252=)
c.3558C>T (p.Pro1186=)
c.2847C>T (p.Pro949=)
Xg.153954643G>CCA519702341HCFC1c.3756C>G (p.Pro1252=)
c.3558C>G (p.Pro1186=)
c.2847C>G (p.Pro949=)
 gnomAD v4
Xg.153954643G>TCA519702340HCFC1c.3756C>A (p.Pro1252=)
c.3558C>A (p.Pro1186=)
c.2847C>A (p.Pro949=)
 ClinVar gnomAD v4
Xg.153954644G>ACA415119551HCFC1c.3755C>T (p.Pro1252Leu)
c.3557C>T (p.Pro1186Leu)
c.2846C>T (p.Pro949Leu)
Xg.153954644G>CCA415119553HCFC1c.3755C>G (p.Pro1252Arg)
c.3557C>G (p.Pro1186Arg)
c.2846C>G (p.Pro949Arg)
 dbSNP gnomAD v2 gnomAD v4
Xg.153954644G=CA2466540217HCFC1c.3755C= (p.Pro1252=)
c.3557C= (p.Pro1186=)
c.2846C= (p.Pro949=)
Xg.153954644G>TCA415119556HCFC1c.3755C>A (p.Pro1252His)
c.3557C>A (p.Pro1186His)
c.2846C>A (p.Pro949His)
Xg.153954645G>ACA10557138HCFC1c.3754C>T (p.Pro1252Ser)
c.3556C>T (p.Pro1186Ser)
c.2845C>T (p.Pro949Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954645G>CCA415119562HCFC1c.3754C>G (p.Pro1252Ala)
c.3556C>G (p.Pro1186Ala)
c.2845C>G (p.Pro949Ala)
Xg.153954645G=CA2466540218HCFC1c.3754C= (p.Pro1252=)
c.3556C= (p.Pro1186=)
c.2845C= (p.Pro949=)
Xg.153954645G>TCA415119561HCFC1c.3754C>A (p.Pro1252Thr)
c.3556C>A (p.Pro1186Thr)
c.2845C>A (p.Pro949Thr)
Xg.153954646C>ACA415119564HCFC1c.3753G>T (p.Glu1251Asp)
c.3555G>T (p.Glu1185Asp)
c.2844G>T (p.Glu948Asp)
Xg.153954646C>GCA415119566HCFC1c.3753G>C (p.Glu1251Asp)
c.3555G>C (p.Glu1185Asp)
c.2844G>C (p.Glu948Asp)
Xg.153954646C>TCA519702349HCFC1c.3753G>A (p.Glu1251=)
c.3555G>A (p.Glu1185=)
c.2844G>A (p.Glu948=)
Xg.153954647T>ACA415119569HCFC1c.3752A>T (p.Glu1251Val)
c.3554A>T (p.Glu1185Val)
c.2843A>T (p.Glu948Val)
Xg.153954647T>CCA415119571HCFC1c.3752A>G (p.Glu1251Gly)
c.3554A>G (p.Glu1185Gly)
c.2843A>G (p.Glu948Gly)
 ClinVar
Xg.153954647T>GCA415119572HCFC1c.3752A>C (p.Glu1251Ala)
c.3554A>C (p.Glu1185Ala)
c.2843A>C (p.Glu948Ala)
Xg.153954648C>ACA415119575HCFC1c.3751G>T (p.Glu1251Ter)
c.3553G>T (p.Glu1185Ter)
c.2842G>T (p.Glu948Ter)
Xg.153954648C>GCA415119577HCFC1c.3751G>C (p.Glu1251Gln)
c.3553G>C (p.Glu1185Gln)
c.2842G>C (p.Glu948Gln)
Xg.153954648C>TCA415119579HCFC1c.3751G>A (p.Glu1251Lys)
c.3553G>A (p.Glu1185Lys)
c.2842G>A (p.Glu948Lys)
Xg.153954651delCA2579735262HCFC1c.3751del (p.Glu1251SerfsTer20)
c.3553del (p.Glu1185SerfsTer20)
c.2842del (p.Glu948SerfsTer20)
Xg.153954649C>ACA519702354HCFC1c.3750G>T (p.Gly1250=)
c.3552G>T (p.Gly1184=)
c.2841G>T (p.Gly947=)
Xg.153954649C>GCA519702357HCFC1c.3750G>C (p.Gly1250=)
c.3552G>C (p.Gly1184=)
c.2841G>C (p.Gly947=)
Xg.153954649C>TCA519702359HCFC1c.3750G>A (p.Gly1250=)
c.3552G>A (p.Gly1184=)
c.2841G>A (p.Gly947=)
Xg.153954650C>ACA415119581HCFC1c.3749G>T (p.Gly1250Val)
c.3551G>T (p.Gly1184Val)
c.2840G>T (p.Gly947Val)
 gnomAD v4
Xg.153954650C=CA2466540219HCFC1c.3749G= (p.Gly1250=)
c.3551G= (p.Gly1184=)
c.2840G= (p.Gly947=)
Xg.153954650C>GCA415119582HCFC1c.3749G>C (p.Gly1250Ala)
c.3551G>C (p.Gly1184Ala)
c.2840G>C (p.Gly947Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954650C>TCA415119584HCFC1c.3749G>A (p.Gly1250Glu)
c.3551G>A (p.Gly1184Glu)
c.2840G>A (p.Gly947Glu)
Xg.153954651C>ACA415119591HCFC1c.3748G>T (p.Gly1250Trp)
c.3550G>T (p.Gly1184Trp)
c.2839G>T (p.Gly947Trp)
Xg.153954651C=CA2466540220HCFC1c.3748G= (p.Gly1250=)
c.3550G= (p.Gly1184=)
c.2839G= (p.Gly947=)
Xg.153954651C>GCA415119589HCFC1c.3748G>C (p.Gly1250Arg)
c.3550G>C (p.Gly1184Arg)
c.2839G>C (p.Gly947Arg)
Xg.153954651C>TCA337252709HCFC1c.3748G>A (p.Gly1250Arg)
c.3550G>A (p.Gly1184Arg)
c.2839G>A (p.Gly947Arg)
 dbSNP
Xg.153954652A>CCA519702366HCFC1c.3747T>G (p.Ala1249=)
c.3549T>G (p.Ala1183=)
c.2838T>G (p.Ala946=)
Xg.153954652A>GCA519702368HCFC1c.3747T>C (p.Ala1249=)
c.3549T>C (p.Ala1183=)
c.2838T>C (p.Ala946=)
Xg.153954652A>TCA519702369HCFC1c.3747T>A (p.Ala1249=)
c.3549T>A (p.Ala1183=)
c.2838T>A (p.Ala946=)
Xg.153954653G>ACA415119594HCFC1c.3746C>T (p.Ala1249Val)
c.3548C>T (p.Ala1183Val)
c.2837C>T (p.Ala946Val)
Xg.153954653G>CCA415119597HCFC1c.3746C>G (p.Ala1249Gly)
c.3548C>G (p.Ala1183Gly)
c.2837C>G (p.Ala946Gly)
Xg.153954653G>TCA415119599HCFC1c.3746C>A (p.Ala1249Asp)
c.3548C>A (p.Ala1183Asp)
c.2837C>A (p.Ala946Asp)
Xg.153954654C>ACA415119601HCFC1c.3745G>T (p.Ala1249Ser)
c.3547G>T (p.Ala1183Ser)
c.2836G>T (p.Ala946Ser)
Xg.153954654C>GCA415119604HCFC1c.3745G>C (p.Ala1249Pro)
c.3547G>C (p.Ala1183Pro)
c.2836G>C (p.Ala946Pro)
Xg.153954654C>TCA415119607HCFC1c.3745G>A (p.Ala1249Thr)
c.3547G>A (p.Ala1183Thr)
c.2836G>A (p.Ala946Thr)
 gnomAD v4
Xg.153954655A>CCA519702378HCFC1c.3744T>G (p.Gly1248=)
c.3546T>G (p.Gly1182=)
c.2835T>G (p.Gly945=)
Xg.153954655A>GCA519702380HCFC1c.3744T>C (p.Gly1248=)
c.3546T>C (p.Gly1182=)
c.2835T>C (p.Gly945=)
Xg.153954655A>TCA519702381HCFC1c.3744T>A (p.Gly1248=)
c.3546T>A (p.Gly1182=)
c.2835T>A (p.Gly945=)
 ClinVar
Xg.153954656C>ACA415119608HCFC1c.3743G>T (p.Gly1248Val)
c.3545G>T (p.Gly1182Val)
c.2834G>T (p.Gly945Val)
Xg.153954656C=CA2466540221HCFC1c.3743G= (p.Gly1248=)
c.3545G= (p.Gly1182=)
c.2834G= (p.Gly945=)
Xg.153954656C>GCA415119610HCFC1c.3743G>C (p.Gly1248Ala)
c.3545G>C (p.Gly1182Ala)
c.2834G>C (p.Gly945Ala)
Xg.153954656C>TCA415119613HCFC1c.3743G>A (p.Gly1248Asp)
c.3545G>A (p.Gly1182Asp)
c.2834G>A (p.Gly945Asp)
 dbSNP
Xg.153954657C>ACA415119621HCFC1c.3742G>T (p.Gly1248Cys)
c.3544G>T (p.Gly1182Cys)
c.2833G>T (p.Gly945Cys)
 gnomAD v4 COSMIC COSMIC
Xg.153954657C>GCA415119618HCFC1c.3742G>C (p.Gly1248Arg)
c.3544G>C (p.Gly1182Arg)
c.2833G>C (p.Gly945Arg)
Xg.153954657C>TCA415119616HCFC1c.3742G>A (p.Gly1248Ser)
c.3544G>A (p.Gly1182Ser)
c.2833G>A (p.Gly945Ser)
Xg.153954658C>ACA519702394HCFC1c.3741G>T (p.Val1247=)
c.3543G>T (p.Val1181=)
c.2832G>T (p.Val944=)
Xg.153954658C>GCA519702390HCFC1c.3741G>C (p.Val1247=)
c.3543G>C (p.Val1181=)
c.2832G>C (p.Val944=)
Xg.153954658C>TCA519702388HCFC1c.3741G>A (p.Val1247=)
c.3543G>A (p.Val1181=)
c.2832G>A (p.Val944=)
Xg.153954659A>CCA415119624HCFC1c.3740T>G (p.Val1247Gly)
c.3542T>G (p.Val1181Gly)
c.2831T>G (p.Val944Gly)
Xg.153954659A>GCA415119628HCFC1c.3740T>C (p.Val1247Ala)
c.3542T>C (p.Val1181Ala)
c.2831T>C (p.Val944Ala)
Xg.153954659A>TCA415119627HCFC1c.3740T>A (p.Val1247Glu)
c.3542T>A (p.Val1181Glu)
c.2831T>A (p.Val944Glu)
Xg.153954660C>ACA415119632HCFC1c.3739G>T (p.Val1247Leu)
c.3541G>T (p.Val1181Leu)
c.2830G>T (p.Val944Leu)
Xg.153954660C=CA2466540222HCFC1c.3739G= (p.Val1247=)
c.3541G= (p.Val1181=)
c.2830G= (p.Val944=)
Xg.153954660C>GCA415119634HCFC1c.3739G>C (p.Val1247Leu)
c.3541G>C (p.Val1181Leu)
c.2830G>C (p.Val944Leu)
Xg.153954660C>TCA415119636HCFC1c.3739G>A (p.Val1247Met)
c.3541G>A (p.Val1181Met)
c.2830G>A (p.Val944Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954661G>ACA10557139HCFC1c.3738C>T (p.Ser1246=)
c.3540C>T (p.Ser1180=)
c.2829C>T (p.Ser943=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.153954661G>CCA415119640HCFC1c.3738C>G (p.Ser1246Arg)
c.3540C>G (p.Ser1180Arg)
c.2829C>G (p.Ser943Arg)
Xg.153954661G=CA2466540223HCFC1c.3738C= (p.Ser1246=)
c.3540C= (p.Ser1180=)
c.2829C= (p.Ser943=)
Xg.153954661G>TCA415119643HCFC1c.3738C>A (p.Ser1246Arg)
c.3540C>A (p.Ser1180Arg)
c.2829C>A (p.Ser943Arg)
Xg.153954662C>ACA415119647HCFC1c.3737G>T (p.Ser1246Ile)
c.3539G>T (p.Ser1180Ile)
c.2828G>T (p.Ser943Ile)
Xg.153954662C=CA2466540224HCFC1c.3737G= (p.Ser1246=)
c.3539G= (p.Ser1180=)
c.2828G= (p.Ser943=)
Xg.153954662C>GCA415119649HCFC1c.3737G>C (p.Ser1246Thr)
c.3539G>C (p.Ser1180Thr)
c.2828G>C (p.Ser943Thr)
Xg.153954662C>TCA415119651HCFC1c.3737G>A (p.Ser1246Asn)
c.3539G>A (p.Ser1180Asn)
c.2828G>A (p.Ser943Asn)
 dbSNP gnomAD v2
Xg.153954663T>ACA415119655HCFC1c.3736A>T (p.Ser1246Cys)
c.3538A>T (p.Ser1180Cys)
c.2827A>T (p.Ser943Cys)
Xg.153954663T>CCA415119657HCFC1c.3736A>G (p.Ser1246Gly)
c.3538A>G (p.Ser1180Gly)
c.2827A>G (p.Ser943Gly)
 gnomAD v4
Xg.153954663T>GCA415119659HCFC1c.3736A>C (p.Ser1246Arg)
c.3538A>C (p.Ser1180Arg)
c.2827A>C (p.Ser943Arg)
Xg.153954664G>ACA519702406HCFC1c.3735C>T (p.Ser1245=)
c.3537C>T (p.Ser1179=)
c.2826C>T (p.Ser942=)
 dbSNP
Xg.153954664G>CCA519702409HCFC1c.3735C>G (p.Ser1245=)
c.3537C>G (p.Ser1179=)
c.2826C>G (p.Ser942=)
Xg.153954664G=CA2466540225HCFC1c.3735C= (p.Ser1245=)
c.3537C= (p.Ser1179=)
c.2826C= (p.Ser942=)
Xg.153954664G>TCA519702410HCFC1c.3735C>A (p.Ser1245=)
c.3537C>A (p.Ser1179=)
c.2826C>A (p.Ser942=)
Xg.153954665G>ACA10557141HCFC1c.3734C>T (p.Ser1245Phe)
c.3536C>T (p.Ser1179Phe)
c.2825C>T (p.Ser942Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954665G>CCA10557140HCFC1c.3734C>G (p.Ser1245Cys)
c.3536C>G (p.Ser1179Cys)
c.2825C>G (p.Ser942Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954665G=CA2466540226HCFC1c.3734C= (p.Ser1245=)
c.3536C= (p.Ser1179=)
c.2825C= (p.Ser942=)
Xg.153954665G>TCA415119664HCFC1c.3734C>A (p.Ser1245Tyr)
c.3536C>A (p.Ser1179Tyr)
c.2825C>A (p.Ser942Tyr)
 gnomAD v4
Xg.153954666A>CCA415119667HCFC1c.3733T>G (p.Ser1245Ala)
c.3535T>G (p.Ser1179Ala)
c.2824T>G (p.Ser942Ala)
Xg.153954666A>GCA415119670HCFC1c.3733T>C (p.Ser1245Pro)
c.3535T>C (p.Ser1179Pro)
c.2824T>C (p.Ser942Pro)
Xg.153954666A>TCA415119673HCFC1c.3733T>A (p.Ser1245Thr)
c.3535T>A (p.Ser1179Thr)
c.2824T>A (p.Ser942Thr)
Xg.153954667A>CCA519702413HCFC1c.3732T>G (p.Arg1244=)
c.3534T>G (p.Arg1178=)
c.2823T>G (p.Arg941=)
Xg.153954667A>GCA519702414HCFC1c.3732T>C (p.Arg1244=)
c.3534T>C (p.Arg1178=)
c.2823T>C (p.Arg941=)
 ClinVar
Xg.153954667A>TCA519702417HCFC1c.3732T>A (p.Arg1244=)
c.3534T>A (p.Arg1178=)
c.2823T>A (p.Arg941=)
Xg.153954668C>ACA415119674HCFC1c.3731G>T (p.Arg1244Leu)
c.3533G>T (p.Arg1178Leu)
c.2822G>T (p.Arg941Leu)
Xg.153954668C=CA2466540227HCFC1c.3731G= (p.Arg1244=)
c.3533G= (p.Arg1178=)
c.2822G= (p.Arg941=)
Xg.153954668C>GCA415119675HCFC1c.3731G>C (p.Arg1244Pro)
c.3533G>C (p.Arg1178Pro)
c.2822G>C (p.Arg941Pro)
 dbSNP gnomAD v2 gnomAD v4
Xg.153954668C>TCA10557142HCFC1c.3731G>A (p.Arg1244His)
c.3533G>A (p.Arg1178His)
c.2822G>A (p.Arg941His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954669G>ACA10557143HCFC1c.3730C>T (p.Arg1244Cys)
c.3532C>T (p.Arg1178Cys)
c.2821C>T (p.Arg941Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954669G>CCA415119677HCFC1c.3730C>G (p.Arg1244Gly)
c.3532C>G (p.Arg1178Gly)
c.2821C>G (p.Arg941Gly)
Xg.153954669G=CA2466540228HCFC1c.3730C= (p.Arg1244=)
c.3532C= (p.Arg1178=)
c.2821C= (p.Arg941=)
Xg.153954669G>TCA415119680HCFC1c.3730C>A (p.Arg1244Ser)
c.3532C>A (p.Arg1178Ser)
c.2821C>A (p.Arg941Ser)
Xg.153954670G>ACA519702424HCFC1c.3729C>T (p.Thr1243=)
c.3531C>T (p.Thr1177=)
c.2820C>T (p.Thr940=)
Xg.153954670G>CCA519702427HCFC1c.3729C>G (p.Thr1243=)
c.3531C>G (p.Thr1177=)
c.2820C>G (p.Thr940=)
 gnomAD v4
Xg.153954670G>TCA519702428HCFC1c.3729C>A (p.Thr1243=)
c.3531C>A (p.Thr1177=)
c.2820C>A (p.Thr940=)
 gnomAD v4
Xg.153954671G>ACA415119687HCFC1c.3728C>T (p.Thr1243Ile)
c.3530C>T (p.Thr1177Ile)
c.2819C>T (p.Thr940Ile)
Xg.153954671G>CCA415119684HCFC1c.3728C>G (p.Thr1243Ser)
c.3530C>G (p.Thr1177Ser)
c.2819C>G (p.Thr940Ser)
Xg.153954671G>TCA415119682HCFC1c.3728C>A (p.Thr1243Asn)
c.3530C>A (p.Thr1177Asn)
c.2819C>A (p.Thr940Asn)
Xg.153954672T>ACA415119690HCFC1c.3727A>T (p.Thr1243Ser)
c.3529A>T (p.Thr1177Ser)
c.2818A>T (p.Thr940Ser)
Xg.153954672T>CCA415119692HCFC1c.3727A>G (p.Thr1243Ala)
c.3529A>G (p.Thr1177Ala)
c.2818A>G (p.Thr940Ala)
Xg.153954672T>GCA415119694HCFC1c.3727A>C (p.Thr1243Pro)
c.3529A>C (p.Thr1177Pro)
c.2818A>C (p.Thr940Pro)
Xg.153954673C>ACA415119697HCFC1c.3726G>T (p.Met1242Ile)
c.3528G>T (p.Met1176Ile)
c.2817G>T (p.Met939Ile)
Xg.153954673C>GCA415119699HCFC1c.3726G>C (p.Met1242Ile)
c.3528G>C (p.Met1176Ile)
c.2817G>C (p.Met939Ile)
Xg.153954673C>TCA415119702HCFC1c.3726G>A (p.Met1242Ile)
c.3528G>A (p.Met1176Ile)
c.2817G>A (p.Met939Ile)
Xg.153954674A=CA2466540229HCFC1c.3725T= (p.Met1242=)
c.3527T= (p.Met1176=)
c.2816T= (p.Met939=)
Xg.153954674A>CCA415119705HCFC1c.3725T>G (p.Met1242Arg)
c.3527T>G (p.Met1176Arg)
c.2816T>G (p.Met939Arg)
Xg.153954674A>GCA415119709HCFC1c.3725T>C (p.Met1242Thr)
c.3527T>C (p.Met1176Thr)
c.2816T>C (p.Met939Thr)
 dbSNP gnomAD v2 gnomAD v4
Xg.153954674A>TCA415119710HCFC1c.3725T>A (p.Met1242Lys)
c.3527T>A (p.Met1176Lys)
c.2816T>A (p.Met939Lys)
Xg.153954675T>ACA415119712HCFC1c.3724A>T (p.Met1242Leu)
c.3526A>T (p.Met1176Leu)
c.2815A>T (p.Met939Leu)
Xg.153954675T>CCA415119715HCFC1c.3724A>G (p.Met1242Val)
c.3526A>G (p.Met1176Val)
c.2815A>G (p.Met939Val)
 dbSNP
Xg.153954675T>GCA415119716HCFC1c.3724A>C (p.Met1242Leu)
c.3526A>C (p.Met1176Leu)
c.2815A>C (p.Met939Leu)
Xg.153954675T=CA2466540230HCFC1c.3724A= (p.Met1242=)
c.3526A= (p.Met1176=)
c.2815A= (p.Met939=)
Xg.153954676G>ACA519702434HCFC1c.3723C>T (p.Ala1241=)
c.3525C>T (p.Ala1175=)
c.2814C>T (p.Ala938=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954676G>CCA519702440HCFC1c.3723C>G (p.Ala1241=)
c.3525C>G (p.Ala1175=)
c.2814C>G (p.Ala938=)
Xg.153954676G=CA2466540231HCFC1c.3723C= (p.Ala1241=)
c.3525C= (p.Ala1175=)
c.2814C= (p.Ala938=)
Xg.153954676G>TCA519702437HCFC1c.3723C>A (p.Ala1241=)
c.3525C>A (p.Ala1175=)
c.2814C>A (p.Ala938=)
Xg.153954677G>ACA415119721HCFC1c.3722C>T (p.Ala1241Val)
c.3524C>T (p.Ala1175Val)
c.2813C>T (p.Ala938Val)
Xg.153954677G>CCA415119718HCFC1c.3722C>G (p.Ala1241Gly)
c.3524C>G (p.Ala1175Gly)
c.2813C>G (p.Ala938Gly)
Xg.153954677G>TCA415119719HCFC1c.3722C>A (p.Ala1241Asp)
c.3524C>A (p.Ala1175Asp)
c.2813C>A (p.Ala938Asp)
 gnomAD v4
Xg.153954678C>ACA415119723HCFC1c.3721G>T (p.Ala1241Ser)
c.3523G>T (p.Ala1175Ser)
c.2812G>T (p.Ala938Ser)
Xg.153954678C>GCA415119726HCFC1c.3721G>C (p.Ala1241Pro)
c.3523G>C (p.Ala1175Pro)
c.2812G>C (p.Ala938Pro)
Xg.153954678C>TCA415119728HCFC1c.3721G>A (p.Ala1241Thr)
c.3523G>A (p.Ala1175Thr)
c.2812G>A (p.Ala938Thr)
Xg.153954679A>CCA519702446HCFC1c.3720T>G (p.Ala1240=)
c.3522T>G (p.Ala1174=)
c.2811T>G (p.Ala937=)
Xg.153954679A>GCA519702449HCFC1c.3720T>C (p.Ala1240=)
c.3522T>C (p.Ala1174=)
c.2811T>C (p.Ala937=)
 gnomAD v4
Xg.153954679A>TCA519702450HCFC1c.3720T>A (p.Ala1240=)
c.3522T>A (p.Ala1174=)
c.2811T>A (p.Ala937=)
Xg.153954680G>ACA10557144HCFC1c.3719C>T (p.Ala1240Val)
c.3521C>T (p.Ala1174Val)
c.2810C>T (p.Ala937Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954680G>CCA10557145HCFC1c.3719C>G (p.Ala1240Gly)
c.3521C>G (p.Ala1174Gly)
c.2810C>G (p.Ala937Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954680G=CA2466540232HCFC1c.3719C= (p.Ala1240=)
c.3521C= (p.Ala1174=)
c.2810C= (p.Ala937=)
Xg.153954680G>TCA415119733HCFC1c.3719C>A (p.Ala1240Asp)
c.3521C>A (p.Ala1174Asp)
c.2810C>A (p.Ala937Asp)
 gnomAD v4
Xg.153954681C>ACA415119736HCFC1c.3718G>T (p.Ala1240Ser)
c.3520G>T (p.Ala1174Ser)
c.2809G>T (p.Ala937Ser)
Xg.153954681C=CA2466540233HCFC1c.3718G= (p.Ala1240=)
c.3520G= (p.Ala1174=)
c.2809G= (p.Ala937=)
Xg.153954681C>GCA415119739HCFC1c.3718G>C (p.Ala1240Pro)
c.3520G>C (p.Ala1174Pro)
c.2809G>C (p.Ala937Pro)
Xg.153954681C>TCA10557146HCFC1c.3718G>A (p.Ala1240Thr)
c.3520G>A (p.Ala1174Thr)
c.2809G>A (p.Ala937Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954682G>ACA10557147HCFC1c.3717C>T (p.Thr1239=)
c.3519C>T (p.Thr1173=)
c.2808C>T (p.Thr936=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.153954682G>CCA519702455HCFC1c.3717C>G (p.Thr1239=)
c.3519C>G (p.Thr1173=)
c.2808C>G (p.Thr936=)
Xg.153954682G=CA2466540234HCFC1c.3717C= (p.Thr1239=)
c.3519C= (p.Thr1173=)
c.2808C= (p.Thr936=)
Xg.153954682G>TCA519702456HCFC1c.3717C>A (p.Thr1239=)
c.3519C>A (p.Thr1173=)
c.2808C>A (p.Thr936=)
Xg.153954683G>ACA415119747HCFC1c.3716C>T (p.Thr1239Ile)
c.3518C>T (p.Thr1173Ile)
c.2807C>T (p.Thr936Ile)
 gnomAD v4
Xg.153954683G>CCA415119752HCFC1c.3716C>G (p.Thr1239Ser)
c.3518C>G (p.Thr1173Ser)
c.2807C>G (p.Thr936Ser)
Xg.153954683G>TCA415119750HCFC1c.3716C>A (p.Thr1239Asn)
c.3518C>A (p.Thr1173Asn)
c.2807C>A (p.Thr936Asn)
 gnomAD v4
Xg.153954684T>ACA415119756HCFC1c.3715A>T (p.Thr1239Ser)
c.3517A>T (p.Thr1173Ser)
c.2806A>T (p.Thr936Ser)
Xg.153954684T>CCA415119761HCFC1c.3715A>G (p.Thr1239Ala)
c.3517A>G (p.Thr1173Ala)
c.2806A>G (p.Thr936Ala)
 gnomAD v4
Xg.153954684T>GCA415119759HCFC1c.3715A>C (p.Thr1239Pro)
c.3517A>C (p.Thr1173Pro)
c.2806A>C (p.Thr936Pro)
Xg.153954685G>ACA519702462HCFC1c.3714C>T (p.Ser1238=)
c.3516C>T (p.Ser1172=)
c.2805C>T (p.Ser935=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.153954685G>CCA415119763HCFC1c.3714C>G (p.Ser1238Arg)
c.3516C>G (p.Ser1172Arg)
c.2805C>G (p.Ser935Arg)
Xg.153954685G=CA2466540235HCFC1c.3714C= (p.Ser1238=)
c.3516C= (p.Ser1172=)
c.2805C= (p.Ser935=)
Xg.153954685G>TCA415119765HCFC1c.3714C>A (p.Ser1238Arg)
c.3516C>A (p.Ser1172Arg)
c.2805C>A (p.Ser935Arg)
Xg.153954686C>ACA415119766HCFC1c.3713G>T (p.Ser1238Ile)
c.3515G>T (p.Ser1172Ile)
c.2804G>T (p.Ser935Ile)
 gnomAD v4
Xg.153954686C=CA2466540236HCFC1c.3713G= (p.Ser1238=)
c.3515G= (p.Ser1172=)
c.2804G= (p.Ser935=)
Xg.153954686C>GCA415119767HCFC1c.3713G>C (p.Ser1238Thr)
c.3515G>C (p.Ser1172Thr)
c.2804G>C (p.Ser935Thr)
Xg.153954686C>TCA415119769HCFC1c.3713G>A (p.Ser1238Asn)
c.3515G>A (p.Ser1172Asn)
c.2804G>A (p.Ser935Asn)
 dbSNP
Xg.153954687T>ACA415119771HCFC1c.3712A>T (p.Ser1238Cys)
c.3514A>T (p.Ser1172Cys)
c.2803A>T (p.Ser935Cys)
Xg.153954687T>CCA415119773HCFC1c.3712A>G (p.Ser1238Gly)
c.3514A>G (p.Ser1172Gly)
c.2803A>G (p.Ser935Gly)
 dbSNP gnomAD v3 gnomAD v4
Xg.153954687T>GCA415119774HCFC1c.3712A>C (p.Ser1238Arg)
c.3514A>C (p.Ser1172Arg)
c.2803A>C (p.Ser935Arg)
Xg.153954687T=CA2466540237HCFC1c.3712A= (p.Ser1238=)
c.3514A= (p.Ser1172=)
c.2803A= (p.Ser935=)
Xg.153954688G>ACA10557148HCFC1c.3711C>T (p.Val1237=)
c.3513C>T (p.Val1171=)
c.2802C>T (p.Val934=)
 dbSNP ExAC gnomAD v2
Xg.153954688G>CCA519702468HCFC1c.3711C>G (p.Val1237=)
c.3513C>G (p.Val1171=)
c.2802C>G (p.Val934=)
Xg.153954688G=CA2466540238HCFC1c.3711C= (p.Val1237=)
c.3513C= (p.Val1171=)
c.2802C= (p.Val934=)
Xg.153954688G>TCA519702469HCFC1c.3711C>A (p.Val1237=)
c.3513C>A (p.Val1171=)
c.2802C>A (p.Val934=)
Xg.153954689A=CA2466540239HCFC1c.3710T= (p.Val1237=)
c.3512T= (p.Val1171=)
c.2801T= (p.Val934=)
Xg.153954689A>CCA415119775HCFC1c.3710T>G (p.Val1237Gly)
c.3512T>G (p.Val1171Gly)
c.2801T>G (p.Val934Gly)
Xg.153954689A>GCA415119777HCFC1c.3710T>C (p.Val1237Ala)
c.3512T>C (p.Val1171Ala)
c.2801T>C (p.Val934Ala)
Xg.153954689A>TCA10557149HCFC1c.3710T>A (p.Val1237Asp)
c.3512T>A (p.Val1171Asp)
c.2801T>A (p.Val934Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.153954690C>ACA415119782HCFC1c.3709G>T (p.Val1237Phe)
c.3511G>T (p.Val1171Phe)
c.2800G>T (p.Val934Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954690C=CA2466540240HCFC1c.3709G= (p.Val1237=)
c.3511G= (p.Val1171=)
c.2800G= (p.Val934=)
Xg.153954690C>GCA415119780HCFC1c.3709G>C (p.Val1237Leu)
c.3511G>C (p.Val1171Leu)
c.2800G>C (p.Val934Leu)
Xg.153954690C>TCA415119779HCFC1c.3709G>A (p.Val1237Ile)
c.3511G>A (p.Val1171Ile)
c.2800G>A (p.Val934Ile)
Xg.153954691C>ACA519702476HCFC1c.3708G>T (p.Ala1236=)
c.3510G>T (p.Ala1170=)
c.2799G>T (p.Ala933=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.153954691C=CA2466540241HCFC1c.3708G= (p.Ala1236=)
c.3510G= (p.Ala1170=)
c.2799G= (p.Ala933=)
Xg.153954691C>GCA519702478HCFC1c.3708G>C (p.Ala1236=)
c.3510G>C (p.Ala1170=)
c.2799G>C (p.Ala933=)
 ClinVar gnomAD v4
Xg.153954691C>TCA10557150HCFC1c.3708G>A (p.Ala1236=)
c.3510G>A (p.Ala1170=)
c.2799G>A (p.Ala933=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954692G>ACA10557151HCFC1c.3707C>T (p.Ala1236Val)
c.3509C>T (p.Ala1170Val)
c.2798C>T (p.Ala933Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954692G>CCA415119785HCFC1c.3707C>G (p.Ala1236Gly)
c.3509C>G (p.Ala1170Gly)
c.2798C>G (p.Ala933Gly)
 dbSNP gnomAD v2 gnomAD v4
Xg.153954692G=CA2466540242HCFC1c.3707C= (p.Ala1236=)
c.3509C= (p.Ala1170=)
c.2798C= (p.Ala933=)
Xg.153954692G>TCA415119786HCFC1c.3707C>A (p.Ala1236Glu)
c.3509C>A (p.Ala1170Glu)
c.2798C>A (p.Ala933Glu)
 gnomAD v4
Xg.153954693C>ACA415119788HCFC1c.3706G>T (p.Ala1236Ser)
c.3508G>T (p.Ala1170Ser)
c.2797G>T (p.Ala933Ser)
 COSMIC COSMIC
Xg.153954693C>GCA415119790HCFC1c.3706G>C (p.Ala1236Pro)
c.3508G>C (p.Ala1170Pro)
c.2797G>C (p.Ala933Pro)
Xg.153954693C>TCA415119792HCFC1c.3706G>A (p.Ala1236Thr)
c.3508G>A (p.Ala1170Thr)
c.2797G>A (p.Ala933Thr)
Xg.153954694A>CCA415119793HCFC1c.3705T>G (p.His1235Gln)
c.3507T>G (p.His1169Gln)
c.2796T>G (p.His932Gln)
Xg.153954694A>GCA519702485HCFC1c.3705T>C (p.His1235=)
c.3507T>C (p.His1169=)
c.2796T>C (p.His932=)
Xg.153954694A>TCA415119794HCFC1c.3705T>A (p.His1235Gln)
c.3507T>A (p.His1169Gln)
c.2796T>A (p.His932Gln)
Xg.153954695T>ACA415119795HCFC1c.3704A>T (p.His1235Leu)
c.3506A>T (p.His1169Leu)
c.2795A>T (p.His932Leu)
Xg.153954695T>CCA415119797HCFC1c.3704A>G (p.His1235Arg)
c.3506A>G (p.His1169Arg)
c.2795A>G (p.His932Arg)
Xg.153954695T>GCA415119799HCFC1c.3704A>C (p.His1235Pro)
c.3506A>C (p.His1169Pro)
c.2795A>C (p.His932Pro)

Number of alleles fetched