Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.44953271G>ACA402325504SETBP1c.3931G>A (p.Glu1311Lys)
c.4009G>A (p.Glu1337Lys)
c.3454G>A (p.Glu1152Lys)
 gnomAD v4
18g.44953271G>CCA402325505SETBP1c.3931G>C (p.Glu1311Gln)
c.4009G>C (p.Glu1337Gln)
c.3454G>C (p.Glu1152Gln)
18g.44953271G>TCA402325506SETBP1c.3931G>T (p.Glu1311Ter)
c.4009G>T (p.Glu1337Ter)
c.3454G>T (p.Glu1152Ter)
18g.44953272A>CCA402325507SETBP1c.3932A>C (p.Glu1311Ala)
c.4010A>C (p.Glu1337Ala)
c.3455A>C (p.Glu1152Ala)
 ClinVar
18g.44953272A>GCA402325508SETBP1c.3932A>G (p.Glu1311Gly)
c.4010A>G (p.Glu1337Gly)
c.3455A>G (p.Glu1152Gly)
18g.44953272A>TCA402325509SETBP1c.3932A>T (p.Glu1311Val)
c.4010A>T (p.Glu1337Val)
c.3455A>T (p.Glu1152Val)
18g.44953275delCA2539144617SETBP1c.3935del (p.Lys1312ArgfsTer8)
c.4013del (p.Lys1338ArgfsTer8)
c.3458del (p.Lys1153ArgfsTer8)
18g.44953273A=CA2300141340SETBP1c.3933A= (p.Glu1311=)
c.4011A= (p.Glu1337=)
c.3456A= (p.Glu1152=)
18g.44953273A>CCA8946023SETBP1c.3933A>C (p.Glu1311Asp)
c.4011A>C (p.Glu1337Asp)
c.3456A>C (p.Glu1152Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.44953273A>GCA503983006SETBP1c.3933A>G (p.Glu1311=)
c.4011A>G (p.Glu1337=)
c.3456A>G (p.Glu1152=)
 dbSNP gnomAD v4
18g.44953273A>TCA402325510SETBP1c.3933A>T (p.Glu1311Asp)
c.4011A>T (p.Glu1337Asp)
c.3456A>T (p.Glu1152Asp)
18g.44953274A=CA2300141341SETBP1c.3934A= (p.Lys1312=)
c.4012A= (p.Lys1338=)
c.3457A= (p.Lys1153=)
18g.44953274A>CCA402325511SETBP1c.3934A>C (p.Lys1312Gln)
c.4012A>C (p.Lys1338Gln)
c.3457A>C (p.Lys1153Gln)
18g.44953274A>GCA402325512SETBP1c.3934A>G (p.Lys1312Glu)
c.4012A>G (p.Lys1338Glu)
c.3457A>G (p.Lys1153Glu)
 dbSNP
18g.44953274A>TCA402325513SETBP1c.3934A>T (p.Lys1312Ter)
c.4012A>T (p.Lys1338Ter)
c.3457A>T (p.Lys1153Ter)
18g.44953275A>CCA402325514SETBP1c.3935A>C (p.Lys1312Thr)
c.4013A>C (p.Lys1338Thr)
c.3458A>C (p.Lys1153Thr)
 gnomAD v4
18g.44953275A>GCA402325515SETBP1c.3935A>G (p.Lys1312Arg)
c.4013A>G (p.Lys1338Arg)
c.3458A>G (p.Lys1153Arg)
 gnomAD v4
18g.44953275A>TCA402325516SETBP1c.3935A>T (p.Lys1312Met)
c.4013A>T (p.Lys1338Met)
c.3458A>T (p.Lys1153Met)
18g.44953276G>ACA503983012SETBP1c.3936G>A (p.Lys1312=)
c.4014G>A (p.Lys1338=)
c.3459G>A (p.Lys1153=)
18g.44953276G>CCA402325517SETBP1c.3936G>C (p.Lys1312Asn)
c.4014G>C (p.Lys1338Asn)
c.3459G>C (p.Lys1153Asn)
18g.44953276G>TCA402325518SETBP1c.3936G>T (p.Lys1312Asn)
c.4014G>T (p.Lys1338Asn)
c.3459G>T (p.Lys1153Asn)
18g.44953277G>ACA402325519SETBP1c.3937G>A (p.Asp1313Asn)
c.4015G>A (p.Asp1339Asn)
c.3460G>A (p.Asp1154Asn)
18g.44953277G>CCA402325520SETBP1c.3937G>C (p.Asp1313His)
c.4015G>C (p.Asp1339His)
c.3460G>C (p.Asp1154His)
 ClinVar dbSNP
18g.44953277G>TCA402325521SETBP1c.3937G>T (p.Asp1313Tyr)
c.4015G>T (p.Asp1339Tyr)
c.3460G>T (p.Asp1154Tyr)
18g.44953278A=CA2300141342SETBP1c.3938A= (p.Asp1313=)
c.4016A= (p.Asp1339=)
c.3461A= (p.Asp1154=)
18g.44953278A>CCA402325522SETBP1c.3938A>C (p.Asp1313Ala)
c.4016A>C (p.Asp1339Ala)
c.3461A>C (p.Asp1154Ala)
18g.44953278A>GCA402325523SETBP1c.3938A>G (p.Asp1313Gly)
c.4016A>G (p.Asp1339Gly)
c.3461A>G (p.Asp1154Gly)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
18g.44953278A>TCA8946024SETBP1c.3938A>T (p.Asp1313Val)
c.4016A>T (p.Asp1339Val)
c.3461A>T (p.Asp1154Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.44953279C>ACA402325524SETBP1c.3939C>A (p.Asp1313Glu)
c.4017C>A (p.Asp1339Glu)
c.3462C>A (p.Asp1154Glu)
18g.44953279C>GCA402325525SETBP1c.3939C>G (p.Asp1313Glu)
c.4017C>G (p.Asp1339Glu)
c.3462C>G (p.Asp1154Glu)
18g.44953279C>TCA503983017SETBP1c.3939C>T (p.Asp1313=)
c.4017C>T (p.Asp1339=)
c.3462C>T (p.Asp1154=)
 gnomAD v4 COSMIC
18g.44953280A=CA2300141343SETBP1c.3940A= (p.Ile1314=)
c.4018A= (p.Ile1340=)
c.3463A= (p.Ile1155=)
18g.44953280A>CCA402325526SETBP1c.3940A>C (p.Ile1314Leu)
c.4018A>C (p.Ile1340Leu)
c.3463A>C (p.Ile1155Leu)
18g.44953280A>GCA8946025SETBP1c.3940A>G (p.Ile1314Val)
c.4018A>G (p.Ile1340Val)
c.3463A>G (p.Ile1155Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.44953280A>TCA8946026SETBP1c.3940A>T (p.Ile1314Phe)
c.4018A>T (p.Ile1340Phe)
c.3463A>T (p.Ile1155Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.44953281T>ACA402325527SETBP1c.3941T>A (p.Ile1314Asn)
c.4019T>A (p.Ile1340Asn)
c.3464T>A (p.Ile1155Asn)
 gnomAD v4
18g.44953281T>CCA402325528SETBP1c.3941T>C (p.Ile1314Thr)
c.4019T>C (p.Ile1340Thr)
c.3464T>C (p.Ile1155Thr)
18g.44953281T>GCA402325529SETBP1c.3941T>G (p.Ile1314Ser)
c.4019T>G (p.Ile1340Ser)
c.3464T>G (p.Ile1155Ser)
18g.44953282C>ACA503983023SETBP1c.3942C>A (p.Ile1314=)
c.4020C>A (p.Ile1340=)
c.3465C>A (p.Ile1155=)
18g.44953282C>GCA402325530SETBP1c.3942C>G (p.Ile1314Met)
c.4020C>G (p.Ile1340Met)
c.3465C>G (p.Ile1155Met)
18g.44953282C>TCA503983024SETBP1c.3942C>T (p.Ile1314=)
c.4020C>T (p.Ile1340=)
c.3465C>T (p.Ile1155=)
 gnomAD v4
18g.44953283C>ACA402325531SETBP1c.3943C>A (p.Gln1315Lys)
c.4021C>A (p.Gln1341Lys)
c.3466C>A (p.Gln1156Lys)
18g.44953283C=CA2300141344SETBP1c.3943C= (p.Gln1315=)
c.4021C= (p.Gln1341=)
c.3466C= (p.Gln1156=)
18g.44953283C>GCA402325532SETBP1c.3943C>G (p.Gln1315Glu)
c.4021C>G (p.Gln1341Glu)
c.3466C>G (p.Gln1156Glu)
 dbSNP
18g.44953283C>TCA402325533SETBP1c.3943C>T (p.Gln1315Ter)
c.4021C>T (p.Gln1341Ter)
c.3466C>T (p.Gln1156Ter)
18g.44953284A>CCA402325534SETBP1c.3944A>C (p.Gln1315Pro)
c.4022A>C (p.Gln1341Pro)
c.3467A>C (p.Gln1156Pro)
18g.44953284A>GCA402325535SETBP1c.3944A>G (p.Gln1315Arg)
c.4022A>G (p.Gln1341Arg)
c.3467A>G (p.Gln1156Arg)
18g.44953284A>TCA402325536SETBP1c.3944A>T (p.Gln1315Leu)
c.4022A>T (p.Gln1341Leu)
c.3467A>T (p.Gln1156Leu)
18g.44953285delCA2734971992SETBP1c.3945del (p.Ala1316ProfsTer4)
c.4023del (p.Ala1342ProfsTer4)
c.3468del (p.Ala1157ProfsTer4)
 dbSNP
18g.44953285A=CA2300141345SETBP1c.3945A= (p.Gln1315=)
c.4023A= (p.Gln1341=)
c.3468A= (p.Gln1156=)
18g.44953285A>CCA402325538SETBP1c.3945A>C (p.Gln1315His)
c.4023A>C (p.Gln1341His)
c.3468A>C (p.Gln1156His)
18g.44953285A>GCA503983026SETBP1c.3945A>G (p.Gln1315=)
c.4023A>G (p.Gln1341=)
c.3468A>G (p.Gln1156=)
 dbSNP
18g.44953285A>TCA402325537SETBP1c.3945A>T (p.Gln1315His)
c.4023A>T (p.Gln1341His)
c.3468A>T (p.Gln1156His)
18g.44953286delCA2695227493SETBP1c.3946del (p.Ala1316ProfsTer4)
c.4024del (p.Ala1342ProfsTer4)
c.3469del (p.Ala1157ProfsTer4)
18g.44953286G>ACA402325539SETBP1c.3946G>A (p.Ala1316Thr)
c.4024G>A (p.Ala1342Thr)
c.3469G>A (p.Ala1157Thr)
18g.44953286G>CCA402325541SETBP1c.3946G>C (p.Ala1316Pro)
c.4024G>C (p.Ala1342Pro)
c.3469G>C (p.Ala1157Pro)
 gnomAD v4
18g.44953286G>TCA402325540SETBP1c.3946G>T (p.Ala1316Ser)
c.4024G>T (p.Ala1342Ser)
c.3469G>T (p.Ala1157Ser)
 ClinVar
18g.44953287C>ACA299699990SETBP1c.3947C>A (p.Ala1316Asp)
c.4025C>A (p.Ala1342Asp)
c.3470C>A (p.Ala1157Asp)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.44953287C=CA2300141346SETBP1c.3947C= (p.Ala1316=)
c.4025C= (p.Ala1342=)
c.3470C= (p.Ala1157=)
18g.44953287C>GCA402325542SETBP1c.3947C>G (p.Ala1316Gly)
c.4025C>G (p.Ala1342Gly)
c.3470C>G (p.Ala1157Gly)
18g.44953287C>TCA402325543SETBP1c.3947C>T (p.Ala1316Val)
c.4025C>T (p.Ala1342Val)
c.3470C>T (p.Ala1157Val)
 dbSNP gnomAD v3 gnomAD v4
18g.44953288C>ACA503983031SETBP1c.3948C>A (p.Ala1316=)
c.4026C>A (p.Ala1342=)
c.3471C>A (p.Ala1157=)
18g.44953288C=CA2300141347SETBP1c.3948C= (p.Ala1316=)
c.4026C= (p.Ala1342=)
c.3471C= (p.Ala1157=)
18g.44953288C>GCA503983033SETBP1c.3948C>G (p.Ala1316=)
c.4026C>G (p.Ala1342=)
c.3471C>G (p.Ala1157=)
18g.44953288C>TCA8946027SETBP1c.3948C>T (p.Ala1316=)
c.4026C>T (p.Ala1342=)
c.3471C>T (p.Ala1157=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.44953289T>ACA402325544SETBP1c.3949T>A (p.Phe1317Ile)
c.4027T>A (p.Phe1343Ile)
c.3472T>A (p.Phe1158Ile)
18g.44953289T>CCA402325545SETBP1c.3949T>C (p.Phe1317Leu)
c.4027T>C (p.Phe1343Leu)
c.3472T>C (p.Phe1158Leu)
18g.44953289T>GCA402325546SETBP1c.3949T>G (p.Phe1317Val)
c.4027T>G (p.Phe1343Val)
c.3472T>G (p.Phe1158Val)
18g.44953290T>ACA402325549SETBP1c.3950T>A (p.Phe1317Tyr)
c.4028T>A (p.Phe1343Tyr)
c.3473T>A (p.Phe1158Tyr)
18g.44953290T>CCA402325547SETBP1c.3950T>C (p.Phe1317Ser)
c.4028T>C (p.Phe1343Ser)
c.3473T>C (p.Phe1158Ser)
18g.44953290T>GCA402325548SETBP1c.3950T>G (p.Phe1317Cys)
c.4028T>G (p.Phe1343Cys)
c.3473T>G (p.Phe1158Cys)
18g.44953291C>ACA402325550SETBP1c.3951C>A (p.Phe1317Leu)
c.4029C>A (p.Phe1343Leu)
c.3474C>A (p.Phe1158Leu)
18g.44953291C=CA2300141348SETBP1c.3951C= (p.Phe1317=)
c.4029C= (p.Phe1343=)
c.3474C= (p.Phe1158=)
18g.44953291C>GCA8946028SETBP1c.3951C>G (p.Phe1317Leu)
c.4029C>G (p.Phe1343Leu)
c.3474C>G (p.Phe1158Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.44953291C>TCA503983037SETBP1c.3951C>T (p.Phe1317=)
c.4029C>T (p.Phe1343=)
c.3474C>T (p.Phe1158=)
 dbSNP
18g.44953292A>CCA402325551SETBP1c.3952A>C (p.Lys1318Gln)
c.4030A>C (p.Lys1344Gln)
c.3475A>C (p.Lys1159Gln)
18g.44953292A>GCA402325552SETBP1c.3952A>G (p.Lys1318Glu)
c.4030A>G (p.Lys1344Glu)
c.3475A>G (p.Lys1159Glu)
18g.44953292A>TCA402325553SETBP1c.3952A>T (p.Lys1318Ter)
c.4030A>T (p.Lys1344Ter)
c.3475A>T (p.Lys1159Ter)
18g.44953293A>CCA402325554SETBP1c.3953A>C (p.Lys1318Thr)
c.4031A>C (p.Lys1344Thr)
c.3476A>C (p.Lys1159Thr)
18g.44953293A>GCA402325556SETBP1c.3953A>G (p.Lys1318Arg)
c.4031A>G (p.Lys1344Arg)
c.3476A>G (p.Lys1159Arg)
18g.44953293A>TCA402325555SETBP1c.3953A>T (p.Lys1318Met)
c.4031A>T (p.Lys1344Met)
c.3476A>T (p.Lys1159Met)
18g.44953294G>ACA503983041SETBP1c.3954G>A (p.Lys1318=)
c.4032G>A (p.Lys1344=)
c.3477G>A (p.Lys1159=)
18g.44953294G>CCA402325557SETBP1c.3954G>C (p.Lys1318Asn)
c.4032G>C (p.Lys1344Asn)
c.3477G>C (p.Lys1159Asn)
18g.44953294G>TCA402325558SETBP1c.3954G>T (p.Lys1318Asn)
c.4032G>T (p.Lys1344Asn)
c.3477G>T (p.Lys1159Asn)
18g.44953295A=CA2300141349SETBP1c.3955A= (p.Met1319=)
c.4033A= (p.Met1345=)
c.3478A= (p.Met1160=)
18g.44953295A>CCA402325559SETBP1c.3955A>C (p.Met1319Leu)
c.4033A>C (p.Met1345Leu)
c.3478A>C (p.Met1160Leu)
18g.44953295A>GCA8946029SETBP1c.3955A>G (p.Met1319Val)
c.4033A>G (p.Met1345Val)
c.3478A>G (p.Met1160Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.44953295A>TCA402325560SETBP1c.3955A>T (p.Met1319Leu)
c.4033A>T (p.Met1345Leu)
c.3478A>T (p.Met1160Leu)
18g.44953296T>ACA402325561SETBP1c.3956T>A (p.Met1319Lys)
c.4034T>A (p.Met1345Lys)
c.3479T>A (p.Met1160Lys)
18g.44953296T>CCA8946030SETBP1c.3956T>C (p.Met1319Thr)
c.4034T>C (p.Met1345Thr)
c.3479T>C (p.Met1160Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.44953296T>GCA402325562SETBP1c.3956T>G (p.Met1319Arg)
c.4034T>G (p.Met1345Arg)
c.3479T>G (p.Met1160Arg)
18g.44953296T=CA2300141350SETBP1c.3956T= (p.Met1319=)
c.4034T= (p.Met1345=)
c.3479T= (p.Met1160=)
18g.44953298_44953349dupCA2641600975SETBP1c.3958_4000+9dup
c.4036_4078+9dup
c.3481_3523+9dup
 gnomAD v4
18g.44953297G>ACA402325563SETBP1c.3957G>A (p.Met1319Ile)
c.4035G>A (p.Met1345Ile)
c.3480G>A (p.Met1160Ile)
 ClinVar dbSNP
18g.44953297G>CCA402325564SETBP1c.3957G>C (p.Met1319Ile)
c.4035G>C (p.Met1345Ile)
c.3480G>C (p.Met1160Ile)
18g.44953297G>TCA402325565SETBP1c.3957G>T (p.Met1319Ile)
c.4035G>T (p.Met1345Ile)
c.3480G>T (p.Met1160Ile)
18g.44953298A=CA2300141351SETBP1c.3958A= (p.Asn1320=)
c.4036A= (p.Asn1346=)
c.3481A= (p.Asn1161=)
18g.44953298A>CCA402325566SETBP1c.3958A>C (p.Asn1320His)
c.4036A>C (p.Asn1346His)
c.3481A>C (p.Asn1161His)
18g.44953298A>GCA402325568SETBP1c.3958A>G (p.Asn1320Asp)
c.4036A>G (p.Asn1346Asp)
c.3481A>G (p.Asn1161Asp)
18g.44953298A>TCA402325567SETBP1c.3958A>T (p.Asn1320Tyr)
c.4036A>T (p.Asn1346Tyr)
c.3481A>T (p.Asn1161Tyr)
 dbSNP gnomAD v3 gnomAD v4
18g.44953299A>CCA402325569SETBP1c.3959A>C (p.Asn1320Thr)
c.4037A>C (p.Asn1346Thr)
c.3482A>C (p.Asn1161Thr)
18g.44953299A>GCA402325570SETBP1c.3959A>G (p.Asn1320Ser)
c.4037A>G (p.Asn1346Ser)
c.3482A>G (p.Asn1161Ser)
18g.44953299A>TCA402325571SETBP1c.3959A>T (p.Asn1320Ile)
c.4037A>T (p.Asn1346Ile)
c.3482A>T (p.Asn1161Ile)
18g.44953300C>ACA402325572SETBP1c.3960C>A (p.Asn1320Lys)
c.4038C>A (p.Asn1346Lys)
c.3483C>A (p.Asn1161Lys)
 gnomAD v4
18g.44953300C=CA2300141352SETBP1c.3960C= (p.Asn1320=)
c.4038C= (p.Asn1346=)
c.3483C= (p.Asn1161=)
18g.44953300C>GCA402325573SETBP1c.3960C>G (p.Asn1320Lys)
c.4038C>G (p.Asn1346Lys)
c.3483C>G (p.Asn1161Lys)
 gnomAD v4
18g.44953300C>TCA8946031SETBP1c.3960C>T (p.Asn1320=)
c.4038C>T (p.Asn1346=)
c.3483C>T (p.Asn1161=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.44953301C>ACA402325574SETBP1c.3961C>A (p.Arg1321Ser)
c.4039C>A (p.Arg1347Ser)
c.3484C>A (p.Arg1162Ser)
18g.44953301C=CA2300141353SETBP1c.3961C= (p.Arg1321=)
c.4039C= (p.Arg1347=)
c.3484C= (p.Arg1162=)
18g.44953301C>GCA402325575SETBP1c.3961C>G (p.Arg1321Gly)
c.4039C>G (p.Arg1347Gly)
c.3484C>G (p.Arg1162Gly)
18g.44953301C>TCA8946032SETBP1c.3961C>T (p.Arg1321Cys)
c.4039C>T (p.Arg1347Cys)
c.3484C>T (p.Arg1162Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.44953302G>ACA8946033SETBP1c.3962G>A (p.Arg1321His)
c.4040G>A (p.Arg1347His)
c.3485G>A (p.Arg1162His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.44953302G>CCA402325576SETBP1c.3962G>C (p.Arg1321Pro)
c.4040G>C (p.Arg1347Pro)
c.3485G>C (p.Arg1162Pro)
18g.44953302G=CA2300141354SETBP1c.3962G= (p.Arg1321=)
c.4040G= (p.Arg1347=)
c.3485G= (p.Arg1162=)
18g.44953302G>TCA8946034SETBP1c.3962G>T (p.Arg1321Leu)
c.4040G>T (p.Arg1347Leu)
c.3485G>T (p.Arg1162Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.44953303C>ACA503983048SETBP1c.3963C>A (p.Arg1321=)
c.4041C>A (p.Arg1347=)
c.3486C>A (p.Arg1162=)
 gnomAD v4
18g.44953303C>GCA503983049SETBP1c.3963C>G (p.Arg1321=)
c.4041C>G (p.Arg1347=)
c.3486C>G (p.Arg1162=)
18g.44953303C>TCA503983050SETBP1c.3963C>T (p.Arg1321=)
c.4041C>T (p.Arg1347=)
c.3486C>T (p.Arg1162=)
18g.44953304A>CCA402325579SETBP1c.3964A>C (p.Lys1322Gln)
c.4042A>C (p.Lys1348Gln)
c.3487A>C (p.Lys1163Gln)
18g.44953304A>GCA402325577SETBP1c.3964A>G (p.Lys1322Glu)
c.4042A>G (p.Lys1348Glu)
c.3487A>G (p.Lys1163Glu)
18g.44953304A>TCA402325578SETBP1c.3964A>T (p.Lys1322Ter)
c.4042A>T (p.Lys1348Ter)
c.3487A>T (p.Lys1163Ter)
18g.44953305A>CCA402325580SETBP1c.3965A>C (p.Lys1322Thr)
c.4043A>C (p.Lys1348Thr)
c.3488A>C (p.Lys1163Thr)
18g.44953305A>GCA402325581SETBP1c.3965A>G (p.Lys1322Arg)
c.4043A>G (p.Lys1348Arg)
c.3488A>G (p.Lys1163Arg)
18g.44953305A>TCA402325582SETBP1c.3965A>T (p.Lys1322Met)
c.4043A>T (p.Lys1348Met)
c.3488A>T (p.Lys1163Met)
18g.44953306G>ACA503983052SETBP1c.3966G>A (p.Lys1322=)
c.4044G>A (p.Lys1348=)
c.3489G>A (p.Lys1163=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
18g.44953306G>CCA402325583SETBP1c.3966G>C (p.Lys1322Asn)
c.4044G>C (p.Lys1348Asn)
c.3489G>C (p.Lys1163Asn)
18g.44953306G=CA2300141355SETBP1c.3966G= (p.Lys1322=)
c.4044G= (p.Lys1348=)
c.3489G= (p.Lys1163=)
18g.44953306G>TCA402325584SETBP1c.3966G>T (p.Lys1322Asn)
c.4044G>T (p.Lys1348Asn)
c.3489G>T (p.Lys1163Asn)
18g.44953307G>ACA402325585SETBP1c.3967G>A (p.Glu1323Lys)
c.4045G>A (p.Glu1349Lys)
c.3490G>A (p.Glu1164Lys)
18g.44953307G>CCA402325586SETBP1c.3967G>C (p.Glu1323Gln)
c.4045G>C (p.Glu1349Gln)
c.3490G>C (p.Glu1164Gln)
18g.44953307G>TCA402325587SETBP1c.3967G>T (p.Glu1323Ter)
c.4045G>T (p.Glu1349Ter)
c.3490G>T (p.Glu1164Ter)
18g.44953308A>CCA402325588SETBP1c.3968A>C (p.Glu1323Ala)
c.4046A>C (p.Glu1349Ala)
c.3491A>C (p.Glu1164Ala)
18g.44953308A>GCA402325589SETBP1c.3968A>G (p.Glu1323Gly)
c.4046A>G (p.Glu1349Gly)
c.3491A>G (p.Glu1164Gly)
18g.44953308A>TCA402325590SETBP1c.3968A>T (p.Glu1323Val)
c.4046A>T (p.Glu1349Val)
c.3491A>T (p.Glu1164Val)
18g.44953309G>ACA8946035SETBP1c.3969G>A (p.Glu1323=)
c.4047G>A (p.Glu1349=)
c.3492G>A (p.Glu1164=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.44953309G>CCA402325592SETBP1c.3969G>C (p.Glu1323Asp)
c.4047G>C (p.Glu1349Asp)
c.3492G>C (p.Glu1164Asp)
 gnomAD v4
18g.44953309G=CA2300141356SETBP1c.3969G= (p.Glu1323=)
c.4047G= (p.Glu1349=)
c.3492G= (p.Glu1164=)
18g.44953309G>TCA402325591SETBP1c.3969G>T (p.Glu1323Asp)
c.4047G>T (p.Glu1349Asp)
c.3492G>T (p.Glu1164Asp)
18g.44953310A=CA2300141357SETBP1c.3970A= (p.Arg1324=)
c.4048A= (p.Arg1350=)
c.3493A= (p.Arg1165=)
18g.44953310A>CCA503983056SETBP1c.3970A>C (p.Arg1324=)
c.4048A>C (p.Arg1350=)
c.3493A>C (p.Arg1165=)
18g.44953310A>GCA402325594SETBP1c.3970A>G (p.Arg1324Gly)
c.4048A>G (p.Arg1350Gly)
c.3493A>G (p.Arg1165Gly)
 dbSNP
18g.44953310A>TCA402325593SETBP1c.3970A>T (p.Arg1324Ter)
c.4048A>T (p.Arg1350Ter)
c.3493A>T (p.Arg1165Ter)
18g.44953311G>ACA402325597SETBP1c.3971G>A (p.Arg1324Lys)
c.4049G>A (p.Arg1350Lys)
c.3494G>A (p.Arg1165Lys)
 ClinVar gnomAD v4
18g.44953311G>CCA402325595SETBP1c.3971G>C (p.Arg1324Thr)
c.4049G>C (p.Arg1350Thr)
c.3494G>C (p.Arg1165Thr)
18g.44953311G>TCA402325596SETBP1c.3971G>T (p.Arg1324Ile)
c.4049G>T (p.Arg1350Ile)
c.3494G>T (p.Arg1165Ile)
18g.44953312A>CCA402325598SETBP1c.3972A>C (p.Arg1324Ser)
c.4050A>C (p.Arg1350Ser)
c.3495A>C (p.Arg1165Ser)
 gnomAD v4
18g.44953312A>GCA503983058SETBP1c.3972A>G (p.Arg1324=)
c.4050A>G (p.Arg1350=)
c.3495A>G (p.Arg1165=)
 gnomAD v4
18g.44953312A>TCA402325599SETBP1c.3972A>T (p.Arg1324Ser)
c.4050A>T (p.Arg1350Ser)
c.3495A>T (p.Arg1165Ser)
18g.44953313A=CA2300141358SETBP1c.3973A= (p.Ser1325=)
c.4051A= (p.Ser1351=)
c.3496A= (p.Ser1166=)
18g.44953313A>CCA402325600SETBP1c.3973A>C (p.Ser1325Arg)
c.4051A>C (p.Ser1351Arg)
c.3496A>C (p.Ser1166Arg)
18g.44953313A>GCA402325601SETBP1c.3973A>G (p.Ser1325Gly)
c.4051A>G (p.Ser1351Gly)
c.3496A>G (p.Ser1166Gly)
 dbSNP gnomAD v2 gnomAD v4
18g.44953313A>TCA402325602SETBP1c.3973A>T (p.Ser1325Cys)
c.4051A>T (p.Ser1351Cys)
c.3496A>T (p.Ser1166Cys)
18g.44953313_44953321delCA645613028SETBP1c.3973_3981del (p.Ser1325_Tyr1327del)
c.4051_4059del (p.Ser1351_Tyr1353del)
c.3496_3504del (p.Ser1166_Tyr1168del)
 COSMIC COSMIC
18g.44953314G>ACA402325603SETBP1c.3974G>A (p.Ser1325Asn)
c.4052G>A (p.Ser1351Asn)
c.3497G>A (p.Ser1166Asn)
 ClinVar
18g.44953314G>CCA402325604SETBP1c.3974G>C (p.Ser1325Thr)
c.4052G>C (p.Ser1351Thr)
c.3497G>C (p.Ser1166Thr)
18g.44953314G>TCA402325605SETBP1c.3974G>T (p.Ser1325Ile)
c.4052G>T (p.Ser1351Ile)
c.3497G>T (p.Ser1166Ile)
18g.44953315T>ACA8946036SETBP1c.3975T>A (p.Ser1325Arg)
c.4053T>A (p.Ser1351Arg)
c.3498T>A (p.Ser1166Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.44953315T>CCA503983060SETBP1c.3975T>C (p.Ser1325=)
c.4053T>C (p.Ser1351=)
c.3498T>C (p.Ser1166=)
18g.44953315T>GCA402325606SETBP1c.3975T>G (p.Ser1325Arg)
c.4053T>G (p.Ser1351Arg)
c.3498T>G (p.Ser1166Arg)
18g.44953315T=CA2300141359SETBP1c.3975T= (p.Ser1325=)
c.4053T= (p.Ser1351=)
c.3498T= (p.Ser1166=)
18g.44953316T>ACA402325609SETBP1c.3976T>A (p.Ser1326Thr)
c.4054T>A (p.Ser1352Thr)
c.3499T>A (p.Ser1167Thr)
18g.44953316T>CCA402325607SETBP1c.3976T>C (p.Ser1326Pro)
c.4054T>C (p.Ser1352Pro)
c.3499T>C (p.Ser1167Pro)
18g.44953316T>GCA402325608SETBP1c.3976T>G (p.Ser1326Ala)
c.4054T>G (p.Ser1352Ala)
c.3499T>G (p.Ser1167Ala)
18g.44953317C>ACA402325610SETBP1c.3977C>A (p.Ser1326Tyr)
c.4055C>A (p.Ser1352Tyr)
c.3500C>A (p.Ser1167Tyr)
18g.44953317C=CA2300141360SETBP1c.3977C= (p.Ser1326=)
c.4055C= (p.Ser1352=)
c.3500C= (p.Ser1167=)
18g.44953317C>GCA402325611SETBP1c.3977C>G (p.Ser1326Cys)
c.4055C>G (p.Ser1352Cys)
c.3500C>G (p.Ser1167Cys)
18g.44953317C>TCA402325612SETBP1c.3977C>T (p.Ser1326Phe)
c.4055C>T (p.Ser1352Phe)
c.3500C>T (p.Ser1167Phe)
 dbSNP gnomAD v2 gnomAD v4
18g.44953318T>ACA503983062SETBP1c.3978T>A (p.Ser1326=)
c.4056T>A (p.Ser1352=)
c.3501T>A (p.Ser1167=)
18g.44953318T>CCA503983064SETBP1c.3978T>C (p.Ser1326=)
c.4056T>C (p.Ser1352=)
c.3501T>C (p.Ser1167=)
18g.44953318T>GCA503983063SETBP1c.3978T>G (p.Ser1326=)
c.4056T>G (p.Ser1352=)
c.3501T>G (p.Ser1167=)
18g.44953319T>ACA402325613SETBP1c.3979T>A (p.Tyr1327Asn)
c.4057T>A (p.Tyr1353Asn)
c.3502T>A (p.Tyr1168Asn)
18g.44953319T>CCA8946037SETBP1c.3979T>C (p.Tyr1327His)
c.4057T>C (p.Tyr1353His)
c.3502T>C (p.Tyr1168His)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.44953319T>GCA402325614SETBP1c.3979T>G (p.Tyr1327Asp)
c.4057T>G (p.Tyr1353Asp)
c.3502T>G (p.Tyr1168Asp)
18g.44953319T=CA2300141361SETBP1c.3979T= (p.Tyr1327=)
c.4057T= (p.Tyr1353=)
c.3502T= (p.Tyr1168=)
18g.44953320A=CA2300141362SETBP1c.3980A= (p.Tyr1327=)
c.4058A= (p.Tyr1353=)
c.3503A= (p.Tyr1168=)
18g.44953320A>CCA402325615SETBP1c.3980A>C (p.Tyr1327Ser)
c.4058A>C (p.Tyr1353Ser)
c.3503A>C (p.Tyr1168Ser)
18g.44953320A>GCA402325616SETBP1c.3980A>G (p.Tyr1327Cys)
c.4058A>G (p.Tyr1353Cys)
c.3503A>G (p.Tyr1168Cys)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
18g.44953320A>TCA8946038SETBP1c.3980A>T (p.Tyr1327Phe)
c.4058A>T (p.Tyr1353Phe)
c.3503A>T (p.Tyr1168Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.44953321T>ACA402325617SETBP1c.3981T>A (p.Tyr1327Ter)
c.4059T>A (p.Tyr1353Ter)
c.3504T>A (p.Tyr1168Ter)
18g.44953321T>CCA503983068SETBP1c.3981T>C (p.Tyr1327=)
c.4059T>C (p.Tyr1353=)
c.3504T>C (p.Tyr1168=)
 gnomAD v4
18g.44953321T>GCA402325618SETBP1c.3981T>G (p.Tyr1327Ter)
c.4059T>G (p.Tyr1353Ter)
c.3504T>G (p.Tyr1168Ter)
18g.44953322G>ACA402325620SETBP1c.3982G>A (p.Asp1328Asn)
c.4060G>A (p.Asp1354Asn)
c.3505G>A (p.Asp1169Asn)
 ClinVar COSMIC
18g.44953322G>CCA402325621SETBP1c.3982G>C (p.Asp1328His)
c.4060G>C (p.Asp1354His)
c.3505G>C (p.Asp1169His)
18g.44953322G>TCA402325619SETBP1c.3982G>T (p.Asp1328Tyr)
c.4060G>T (p.Asp1354Tyr)
c.3505G>T (p.Asp1169Tyr)
18g.44953323A>CCA402325622SETBP1c.3983A>C (p.Asp1328Ala)
c.4061A>C (p.Asp1354Ala)
c.3506A>C (p.Asp1169Ala)
18g.44953323A>GCA402325623SETBP1c.3983A>G (p.Asp1328Gly)
c.4061A>G (p.Asp1354Gly)
c.3506A>G (p.Asp1169Gly)
18g.44953323A>TCA402325624SETBP1c.3983A>T (p.Asp1328Val)
c.4061A>T (p.Asp1354Val)
c.3506A>T (p.Asp1169Val)
18g.44953324C>ACA402325625SETBP1c.3984C>A (p.Asp1328Glu)
c.4062C>A (p.Asp1354Glu)
c.3507C>A (p.Asp1169Glu)
18g.44953324C=CA2300141363SETBP1c.3984C= (p.Asp1328=)
c.4062C= (p.Asp1354=)
c.3507C= (p.Asp1169=)
18g.44953324C>GCA402325626SETBP1c.3984C>G (p.Asp1328Glu)
c.4062C>G (p.Asp1354Glu)
c.3507C>G (p.Asp1169Glu)
18g.44953324C>TCA8946039SETBP1c.3984C>T (p.Asp1328=)
c.4062C>T (p.Asp1354=)
c.3507C>T (p.Asp1169=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.44953325T>ACA402325627SETBP1c.3985T>A (p.Ser1329Thr)
c.4063T>A (p.Ser1355Thr)
c.3508T>A (p.Ser1170Thr)
18g.44953325T>CCA402325628SETBP1c.3985T>C (p.Ser1329Pro)
c.4063T>C (p.Ser1355Pro)
c.3508T>C (p.Ser1170Pro)
 COSMIC
18g.44953325T>GCA402325629SETBP1c.3985T>G (p.Ser1329Ala)
c.4063T>G (p.Ser1355Ala)
c.3508T>G (p.Ser1170Ala)
18g.44953326C>ACA402325630SETBP1c.3986C>A (p.Ser1329Tyr)
c.4064C>A (p.Ser1355Tyr)
c.3509C>A (p.Ser1170Tyr)
 gnomAD v4
18g.44953326C>GCA402325631SETBP1c.3986C>G (p.Ser1329Cys)
c.4064C>G (p.Ser1355Cys)
c.3509C>G (p.Ser1170Cys)
 gnomAD v4
18g.44953326C>TCA402325632SETBP1c.3986C>T (p.Ser1329Phe)
c.4064C>T (p.Ser1355Phe)
c.3509C>T (p.Ser1170Phe)
18g.44953327C>ACA503983076SETBP1c.3987C>A (p.Ser1329=)
c.4065C>A (p.Ser1355=)
c.3510C>A (p.Ser1170=)
 gnomAD v4
18g.44953327C=CA2300141364SETBP1c.3987C= (p.Ser1329=)
c.4065C= (p.Ser1355=)
c.3510C= (p.Ser1170=)
18g.44953327C>GCA503983074SETBP1c.3987C>G (p.Ser1329=)
c.4065C>G (p.Ser1355=)
c.3510C>G (p.Ser1170=)
18g.44953327C>TCA503983075SETBP1c.3987C>T (p.Ser1329=)
c.4065C>T (p.Ser1355=)
c.3510C>T (p.Ser1170=)
 dbSNP gnomAD v2 gnomAD v4
18g.44953328T>ACA402325634SETBP1c.3988T>A (p.Ser1330Thr)
c.4066T>A (p.Ser1356Thr)
c.3511T>A (p.Ser1171Thr)
 COSMIC
18g.44953328T>CCA402325635SETBP1c.3988T>C (p.Ser1330Pro)
c.4066T>C (p.Ser1356Pro)
c.3511T>C (p.Ser1171Pro)
 gnomAD v4
18g.44953328T>GCA402325633SETBP1c.3988T>G (p.Ser1330Ala)
c.4066T>G (p.Ser1356Ala)
c.3511T>G (p.Ser1171Ala)
18g.44953329C>ACA402325636SETBP1c.3989C>A (p.Ser1330Tyr)
c.4067C>A (p.Ser1356Tyr)
c.3512C>A (p.Ser1171Tyr)
18g.44953329C>GCA402325637SETBP1c.3989C>G (p.Ser1330Cys)
c.4067C>G (p.Ser1356Cys)
c.3512C>G (p.Ser1171Cys)
 gnomAD v4
18g.44953329C>TCA402325638SETBP1c.3989C>T (p.Ser1330Phe)
c.4067C>T (p.Ser1356Phe)
c.3512C>T (p.Ser1171Phe)
 gnomAD v4
18g.44953330C>ACA503983080SETBP1c.3990C>A (p.Ser1330=)
c.4068C>A (p.Ser1356=)
c.3513C>A (p.Ser1171=)
18g.44953330C>GCA503983081SETBP1c.3990C>G (p.Ser1330=)
c.4068C>G (p.Ser1356=)
c.3513C>G (p.Ser1171=)
18g.44953330C>TCA503983082SETBP1c.3990C>T (p.Ser1330=)
c.4068C>T (p.Ser1356=)
c.3513C>T (p.Ser1171=)
 gnomAD v4
18g.44953331A=CA2300141365SETBP1c.3991A= (p.Met1331=)
c.4069A= (p.Met1357=)
c.3514A= (p.Met1172=)
18g.44953331A>CCA402325639SETBP1c.3991A>C (p.Met1331Leu)
c.4069A>C (p.Met1357Leu)
c.3514A>C (p.Met1172Leu)
18g.44953331A>GCA402325640SETBP1c.3991A>G (p.Met1331Val)
c.4069A>G (p.Met1357Val)
c.3514A>G (p.Met1172Val)
 dbSNP gnomAD v2 gnomAD v4
18g.44953331A>TCA402325641SETBP1c.3991A>T (p.Met1331Leu)
c.4069A>T (p.Met1357Leu)
c.3514A>T (p.Met1172Leu)
18g.44953332T>ACA402325644SETBP1c.3992T>A (p.Met1331Lys)
c.4070T>A (p.Met1357Lys)
c.3515T>A (p.Met1172Lys)
18g.44953332T>CCA402325642SETBP1c.3992T>C (p.Met1331Thr)
c.4070T>C (p.Met1357Thr)
c.3515T>C (p.Met1172Thr)
 ClinVar gnomAD v4
18g.44953332T>GCA402325643SETBP1c.3992T>G (p.Met1331Arg)
c.4070T>G (p.Met1357Arg)
c.3515T>G (p.Met1172Arg)
18g.44953333G>ACA402325645SETBP1c.3993G>A (p.Met1331Ile)
c.4071G>A (p.Met1357Ile)
c.3516G>A (p.Met1172Ile)
18g.44953333G>CCA402325646SETBP1c.3993G>C (p.Met1331Ile)
c.4071G>C (p.Met1357Ile)
c.3516G>C (p.Met1172Ile)
18g.44953333G=CA2300141366SETBP1c.3993G= (p.Met1331=)
c.4071G= (p.Met1357=)
c.3516G= (p.Met1172=)
18g.44953333G>TCA8946040SETBP1c.3993G>T (p.Met1331Ile)
c.4071G>T (p.Met1357Ile)
c.3516G>T (p.Met1172Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.44953334T>ACA402325647SETBP1c.3994T>A (p.Ser1332Thr)
c.4072T>A (p.Ser1358Thr)
c.3517T>A (p.Ser1173Thr)
18g.44953334T>CCA402325648SETBP1c.3994T>C (p.Ser1332Pro)
c.4072T>C (p.Ser1358Pro)
c.3517T>C (p.Ser1173Pro)
 dbSNP
18g.44953334T>GCA402325649SETBP1c.3994T>G (p.Ser1332Ala)
c.4072T>G (p.Ser1358Ala)
c.3517T>G (p.Ser1173Ala)
18g.44953334T=CA2300141367SETBP1c.3994T= (p.Ser1332=)
c.4072T= (p.Ser1358=)
c.3517T= (p.Ser1173=)
18g.44953335C>ACA402325651SETBP1c.3995C>A (p.Ser1332Tyr)
c.4073C>A (p.Ser1358Tyr)
c.3518C>A (p.Ser1173Tyr)
 gnomAD v4
18g.44953335C=CA2300141368SETBP1c.3995C= (p.Ser1332=)
c.4073C= (p.Ser1358=)
c.3518C= (p.Ser1173=)
18g.44953335C>GCA8946041SETBP1c.3995C>G (p.Ser1332Cys)
c.4073C>G (p.Ser1358Cys)
c.3518C>G (p.Ser1173Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.44953335C>TCA402325650SETBP1c.3995C>T (p.Ser1332Phe)
c.4073C>T (p.Ser1358Phe)
c.3518C>T (p.Ser1173Phe)
18g.44953336T>ACA503983086SETBP1c.3996T>A (p.Ser1332=)
c.4074T>A (p.Ser1358=)
c.3519T>A (p.Ser1173=)
18g.44953336T>CCA503983088SETBP1c.3996T>C (p.Ser1332=)
c.4074T>C (p.Ser1358=)
c.3519T>C (p.Ser1173=)
18g.44953336T>GCA503983089SETBP1c.3996T>G (p.Ser1332=)
c.4074T>G (p.Ser1358=)
c.3519T>G (p.Ser1173=)
18g.44953337C>ACA402325652SETBP1c.3997C>A (p.Pro1333Thr)
c.4075C>A (p.Pro1359Thr)
c.3520C>A (p.Pro1174Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.44953337C=CA2300141369SETBP1c.3997C= (p.Pro1333=)
c.4075C= (p.Pro1359=)
c.3520C= (p.Pro1174=)
18g.44953337C>GCA402325654SETBP1c.3997C>G (p.Pro1333Ala)
c.4075C>G (p.Pro1359Ala)
c.3520C>G (p.Pro1174Ala)
18g.44953337C>TCA402325653SETBP1c.3997C>T (p.Pro1333Ser)
c.4075C>T (p.Pro1359Ser)
c.3520C>T (p.Pro1174Ser)
18g.44953338C>ACA402325655SETBP1c.3998C>A (p.Pro1333Gln)
c.4076C>A (p.Pro1359Gln)
c.3521C>A (p.Pro1174Gln)
18g.44953338C>GCA402325657SETBP1c.3998C>G (p.Pro1333Arg)
c.4076C>G (p.Pro1359Arg)
c.3521C>G (p.Pro1174Arg)
18g.44953338C>TCA402325656SETBP1c.3998C>T (p.Pro1333Leu)
c.4076C>T (p.Pro1359Leu)
c.3521C>T (p.Pro1174Leu)
18g.44953339A>CCA503983095SETBP1c.3999A>C (p.Pro1333=)
c.4077A>C (p.Pro1359=)
c.3522A>C (p.Pro1174=)
18g.44953339A>GCA503983092SETBP1c.3999A>G (p.Pro1333=)
c.4077A>G (p.Pro1359=)
c.3522A>G (p.Pro1174=)
18g.44953339A>TCA503983094SETBP1c.3999A>T (p.Pro1333=)
c.4077A>T (p.Pro1359=)
c.3522A>T (p.Pro1174=)
18g.44953340G>ACA402325658SETBP1c.4000G>A (p.Gly1334Arg)
c.4000G>A (p.Val1334Ile)
c.4078G>A (p.Gly1360Arg)
c.4078G>A (p.Val1360Ile)
c.3523G>A (p.Gly1175Arg)
c.4078G>A (p.Glu1360Lys)
18g.44953340G>CCA402325659SETBP1c.4000G>C (p.Gly1334Arg)
c.4000G>C (p.Val1334Leu)
c.4078G>C (p.Gly1360Arg)
c.4078G>C (p.Val1360Leu)
c.3523G>C (p.Gly1175Arg)
c.4078G>C (p.Glu1360Gln)
18g.44953340G>TCA402325660SETBP1c.4000G>T (p.Gly1334Trp)
c.4000G>T (p.Val1334Phe)
c.4078G>T (p.Gly1360Trp)
c.4078G>T (p.Val1360Phe)
c.3523G>T (p.Gly1175Trp)
c.4078G>T (p.Glu1360Ter)
18g.44953341G>ACA402325661SETBP1c.4000+1G>A (n.4000+1G>A)
c.4078+1G>A (n.4078+1G>A)
c.3523+1G>A (n.3523+1G>A)
18g.44953341G>CCA402325662SETBP1c.4000+1G>C (n.4000+1G>C)
c.4078+1G>C (n.4078+1G>C)
c.3523+1G>C (n.3523+1G>C)
18g.44953341G>TCA402325663SETBP1c.4000+1G>T (n.4000+1G>T)
c.4078+1G>T (n.4078+1G>T)
c.3523+1G>T (n.3523+1G>T)
18g.44953342T>ACA402325664SETBP1c.4000+2T>A (n.4000+2T>A)
c.4078+2T>A (n.4078+2T>A)
c.3523+2T>A (n.3523+2T>A)
18g.44953342T>CCA402325665SETBP1c.4000+2T>C (n.4000+2T>C)
c.4078+2T>C (n.4078+2T>C)
c.3523+2T>C (n.3523+2T>C)
18g.44953342T>GCA402325666SETBP1c.4000+2T>G (n.4000+2T>G)
c.4078+2T>G (n.4078+2T>G)
c.3523+2T>G (n.3523+2T>G)
 ClinVar dbSNP
18g.44953342T=CA2300141370SETBP1c.4000+2T= (n.4000+2T=)
c.4078+2T= (n.4078+2T=)
c.3523+2T= (n.3523+2T=)
18g.44953343A=CA2300141372SETBP1c.4000+3A= (n.4000+3A=)
c.4078+3A= (n.4078+3A=)
c.3523+3A= (n.3523+3A=)
18g.44953343A>GCA2300141371SETBP1c.4000+3A>G (n.4000+3A>G)
c.4078+3A>G (n.4078+3A>G)
c.3523+3A>G (n.3523+3A>G)
 dbSNP
18g.44953344delCA2641600976SETBP1c.4000+4del (n.4000+4del)
c.4078+4del (n.4078+4del)
c.3523+4del (n.3523+4del)
 gnomAD v4
18g.44953345G>CCA2300141374SETBP1c.4000+5G>C (n.4000+5G>C)
c.4078+5G>C (n.4078+5G>C)
c.3523+5G>C (n.3523+5G>C)
 dbSNP
18g.44953345G=CA2300141373SETBP1c.4000+5G= (n.4000+5G=)
c.4078+5G= (n.4078+5G=)
c.3523+5G= (n.3523+5G=)
18g.44953346G>ACA299700073SETBP1c.4000+6G>A (n.4000+6G>A)
c.4078+6G>A (n.4078+6G>A)
c.3523+6G>A (n.3523+6G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.44953346G=CA2300141375SETBP1c.4000+6G= (n.4000+6G=)
c.4078+6G= (n.4078+6G=)
c.3523+6G= (n.3523+6G=)
18g.44953346G>TCA2641600977SETBP1c.4000+6G>T (n.4000+6G>T)
c.4078+6G>T (n.4078+6G>T)
c.3523+6G>T (n.3523+6G>T)
 gnomAD v4
18g.44953347C>ACA2641600978SETBP1c.4000+7C>A (n.4000+7C>A)
c.4078+7C>A (n.4078+7C>A)
c.3523+7C>A (n.3523+7C>A)
 gnomAD v4
18g.44953348delCA2641600979SETBP1c.4000+8del (n.4000+8del)
c.4078+8del (n.4078+8del)
c.3523+8del (n.3523+8del)
 gnomAD v4
18g.44953349G>ACA8946042SETBP1c.4000+9G>A (n.4000+9G>A)
c.4078+9G>A (n.4078+9G>A)
c.3523+9G>A (n.3523+9G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.44953349G=CA2300141376SETBP1c.4000+9G= (n.4000+9G=)
c.4078+9G= (n.4078+9G=)
c.3523+9G= (n.3523+9G=)
18g.44953349G>TCA2641600980SETBP1c.4000+9G>T (n.4000+9G>T)
c.4078+9G>T (n.4078+9G>T)
c.3523+9G>T (n.3523+9G>T)
 gnomAD v4
18g.44953350T>ACA173400SETBP1c.4000+10T>A (n.4000+10T>A)
c.4078+10T>A (n.4078+10T>A)
c.3523+10T>A (n.3523+10T>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.44953350T>CCA2300141378SETBP1c.4000+10T>C (n.4000+10T>C)
c.4078+10T>C (n.4078+10T>C)
c.3523+10T>C (n.3523+10T>C)
 dbSNP
18g.44953350T>GCA2581345469SETBP1c.4000+10T>G (n.4000+10T>G)
c.4078+10T>G (n.4078+10T>G)
c.3523+10T>G (n.3523+10T>G)
18g.44953350T=CA2300141377SETBP1c.4000+10T= (n.4000+10T=)
c.4078+10T= (n.4078+10T=)
c.3523+10T= (n.3523+10T=)
18g.44953354delCA2641600981SETBP1c.4000+14del (n.4000+14del)
c.4078+14del (n.4078+14del)
c.3523+14del (n.3523+14del)
 gnomAD v4
18g.44953352T>GCA2300141380SETBP1c.4000+12T>G (n.4000+12T>G)
c.4078+12T>G (n.4078+12T>G)
c.3523+12T>G (n.3523+12T>G)
 dbSNP
18g.44953352T=CA2300141379SETBP1c.4000+12T= (n.4000+12T=)
c.4078+12T= (n.4078+12T=)
c.3523+12T= (n.3523+12T=)
18g.44953353T>GCA299700106SETBP1c.4000+13T>G (n.4000+13T>G)
c.4078+13T>G (n.4078+13T>G)
c.3523+13T>G (n.3523+13T>G)
 dbSNP gnomAD v4
18g.44953353T=CA2300141381SETBP1c.4000+13T= (n.4000+13T=)
c.4078+13T= (n.4078+13T=)
c.3523+13T= (n.3523+13T=)
18g.44953355C>ACA2641600982SETBP1c.4000+15C>A (n.4000+15C>A)
c.4078+15C>A (n.4078+15C>A)
c.3523+15C>A (n.3523+15C>A)
 gnomAD v4
18g.44953355C>TCA2812320216SETBP1c.4000+15C>T (n.4000+15C>T)
c.4078+15C>T (n.4078+15C>T)
c.3523+15C>T (n.3523+15C>T)
18g.44953356T>ACA8946043SETBP1c.4000+16T>A (n.4000+16T>A)
c.4078+16T>A (n.4078+16T>A)
c.3523+16T>A (n.3523+16T>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.44953356T=CA2300141382SETBP1c.4000+16T= (n.4000+16T=)
c.4078+16T= (n.4078+16T=)
c.3523+16T= (n.3523+16T=)
18g.44953357T>GCA2641600983SETBP1c.4000+17T>G (n.4000+17T>G)
c.4078+17T>G (n.4078+17T>G)
c.3523+17T>G (n.3523+17T>G)
 gnomAD v4
18g.44953358C>ACA2641600984SETBP1c.4000+18C>A (n.4000+18C>A)
c.4078+18C>A (n.4078+18C>A)
c.3523+18C>A (n.3523+18C>A)
 gnomAD v4
18g.44953359A>GCA2576492527SETBP1c.4000+19A>G (n.4000+19A>G)
c.4078+19A>G (n.4078+19A>G)
c.3523+19A>G (n.3523+19A>G)
 gnomAD v4
18g.44953360G>TCA2641600985SETBP1c.4000+20G>T (n.4000+20G>T)
c.4078+20G>T (n.4078+20G>T)
c.3523+20G>T (n.3523+20G>T)
 gnomAD v4
18g.44953361A>CCA2830559648SETBP1c.4000+21A>C (n.4000+21A>C)
c.4078+21A>C (n.4078+21A>C)
c.3523+21A>C (n.3523+21A>C)
18g.44953362A>CCA2734972000SETBP1c.4000+22A>C (n.4000+22A>C)
c.4078+22A>C (n.4078+22A>C)
c.3523+22A>C (n.3523+22A>C)
 dbSNP
18g.44953363A>CCA2812320217SETBP1c.4000+23A>C (n.4000+23A>C)
c.4078+23A>C (n.4078+23A>C)
c.3523+23A>C (n.3523+23A>C)
18g.44953363A>TCA2734972037SETBP1c.4000+23A>T (n.4000+23A>T)
c.4078+23A>T (n.4078+23A>T)
c.3523+23A>T (n.3523+23A>T)
 dbSNP
18g.44953364T>CCA629923497SETBP1c.4000+24T>C (n.4000+24T>C)
c.4078+24T>C (n.4078+24T>C)
c.3523+24T>C (n.3523+24T>C)
 dbSNP gnomAD v2 gnomAD v4
18g.44953364T=CA2300141383SETBP1c.4000+24T= (n.4000+24T=)
c.4078+24T= (n.4078+24T=)
c.3523+24T= (n.3523+24T=)
18g.44953365G>ACA2576492528SETBP1c.4000+25G>A (n.4000+25G>A)
c.4078+25G>A (n.4078+25G>A)
c.3523+25G>A (n.3523+25G>A)
18g.44953366G>ACA779639819SETBP1c.4000+26G>A (n.4000+26G>A)
c.4078+26G>A (n.4078+26G>A)
c.3523+26G>A (n.3523+26G>A)
 dbSNP gnomAD v3 gnomAD v4
18g.44953366G=CA2300141384SETBP1c.4000+26G= (n.4000+26G=)
c.4078+26G= (n.4078+26G=)
c.3523+26G= (n.3523+26G=)
18g.44953366G>TCA8946044SETBP1c.4000+26G>T (n.4000+26G>T)
c.4078+26G>T (n.4078+26G>T)
c.3523+26G>T (n.3523+26G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.44953367A>TCA2641600986SETBP1c.4000+27A>T (n.4000+27A>T)
c.4078+27A>T (n.4078+27A>T)
c.3523+27A>T (n.3523+27A>T)
 gnomAD v4
18g.44953368_44953369delCA2830559649SETBP1c.4000+28_4000+29del (n.4000+28_4000+29del)
c.4078+28_4078+29del (n.4078+28_4078+29del)
c.3523+28_3523+29del (n.3523+28_3523+29del)
18g.44953369T>CCA2641600987SETBP1c.4000+29T>C (n.4000+29T>C)
c.4078+29T>C (n.4078+29T>C)
c.3523+29T>C (n.3523+29T>C)
 gnomAD v4
18g.44953370A>GCA2641600988SETBP1c.4000+30A>G (n.4000+30A>G)
c.4078+30A>G (n.4078+30A>G)
c.3523+30A>G (n.3523+30A>G)
 gnomAD v4
18g.44953371T>CCA8946045SETBP1c.4000+31T>C (n.4000+31T>C)
c.4078+31T>C (n.4078+31T>C)
c.3523+31T>C (n.3523+31T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.44953371T=CA2300141385SETBP1c.4000+31T= (n.4000+31T=)
c.4078+31T= (n.4078+31T=)
c.3523+31T= (n.3523+31T=)

Number of alleles fetched