Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.18786103C>ACA404885029COMPc.1351G>T (p.Val451Leu)
c.1192G>T (p.Val398Leu)
c.1252G>T (p.Val418Leu)
 COSMIC
19g.18786103C>GCA404885032COMPc.1351G>C (p.Val451Leu)
c.1192G>C (p.Val398Leu)
c.1252G>C (p.Val418Leu)
19g.18786103C>TCA404885034COMPc.1351G>A (p.Val451Met)
c.1192G>A (p.Val398Met)
c.1252G>A (p.Val418Met)
19g.18786104C>ACA506052701COMPc.1350G>T (p.Thr450=)
c.1191G>T (p.Thr397=)
c.1251G>T (p.Thr417=)
 gnomAD v4
19g.18786104C=CA2326525565COMPc.1350G= (p.Thr450=)
c.1191G= (p.Thr397=)
c.1251G= (p.Thr417=)
19g.18786104C>GCA506052702COMPc.1350G>C (p.Thr450=)
c.1191G>C (p.Thr397=)
c.1251G>C (p.Thr417=)
 dbSNP gnomAD v4
19g.18786104C>TCA506052703COMPc.1350G>A (p.Thr450=)
c.1191G>A (p.Thr397=)
c.1251G>A (p.Thr417=)
 dbSNP gnomAD v2 gnomAD v4
19g.18786105G>ACA404885038COMPc.1349C>T (p.Thr450Met)
c.1190C>T (p.Thr397Met)
c.1250C>T (p.Thr417Met)
 dbSNP gnomAD v4
19g.18786105G>CCA404885040COMPc.1349C>G (p.Thr450Arg)
c.1190C>G (p.Thr397Arg)
c.1250C>G (p.Thr417Arg)
19g.18786105G=CA2326525566COMPc.1349C= (p.Thr450=)
c.1190C= (p.Thr397=)
c.1250C= (p.Thr417=)
19g.18786105G>TCA404885043COMPc.1349C>A (p.Thr450Lys)
c.1190C>A (p.Thr397Lys)
c.1250C>A (p.Thr417Lys)
19g.18786106T>ACA404885045COMPc.1348A>T (p.Thr450Ser)
c.1189A>T (p.Thr397Ser)
c.1249A>T (p.Thr417Ser)
19g.18786106T>CCA404885046COMPc.1348A>G (p.Thr450Ala)
c.1189A>G (p.Thr397Ala)
c.1249A>G (p.Thr417Ala)
19g.18786106T>GCA404885047COMPc.1348A>C (p.Thr450Pro)
c.1189A>C (p.Thr397Pro)
c.1249A>C (p.Thr417Pro)
19g.18786107G>ACA9316434COMPc.1347C>T (p.Pro449=)
c.1188C>T (p.Pro396=)
c.1248C>T (p.Pro416=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18786107G>CCA506052706COMPc.1347C>G (p.Pro449=)
c.1188C>G (p.Pro396=)
c.1248C>G (p.Pro416=)
19g.18786107G=CA2326525567COMPc.1347C= (p.Pro449=)
c.1188C= (p.Pro396=)
c.1248C= (p.Pro416=)
19g.18786107G>TCA506052707COMPc.1347C>A (p.Pro449=)
c.1188C>A (p.Pro396=)
c.1248C>A (p.Pro416=)
19g.18786107_18786109delCA2695228434COMPc.1345_1347del (p.Pro449del)
c.1186_1188del (p.Pro396del)
c.1246_1248del (p.Pro416del)
19g.18786108G>ACA404885053COMPc.1346C>T (p.Pro449Leu)
c.1187C>T (p.Pro396Leu)
c.1247C>T (p.Pro416Leu)
 dbSNP gnomAD v2 gnomAD v4
19g.18786108G>CCA404885052COMPc.1346C>G (p.Pro449Arg)
c.1187C>G (p.Pro396Arg)
c.1247C>G (p.Pro416Arg)
19g.18786108G=CA2326525568COMPc.1346C= (p.Pro449=)
c.1187C= (p.Pro396=)
c.1247C= (p.Pro416=)
19g.18786108G>TCA404885051COMPc.1346C>A (p.Pro449His)
c.1187C>A (p.Pro396His)
c.1247C>A (p.Pro416His)
19g.18786109G>ACA404885056COMPc.1345C>T (p.Pro449Ser)
c.1186C>T (p.Pro396Ser)
c.1246C>T (p.Pro416Ser)
19g.18786109G>CCA404885058COMPc.1345C>G (p.Pro449Ala)
c.1186C>G (p.Pro396Ala)
c.1246C>G (p.Pro416Ala)
 gnomAD v4
19g.18786109G>TCA404885059COMPc.1345C>A (p.Pro449Thr)
c.1186C>A (p.Pro396Thr)
c.1246C>A (p.Pro416Thr)
19g.18786110A>CCA404885063COMPc.1344T>G (p.Cys448Trp)
c.1185T>G (p.Cys395Trp)
c.1245T>G (p.Cys415Trp)
19g.18786110A>GCA506052709COMPc.1344T>C (p.Cys448=)
c.1185T>C (p.Cys395=)
c.1245T>C (p.Cys415=)
19g.18786110A>TCA404885064COMPc.1344T>A (p.Cys448Ter)
c.1185T>A (p.Cys395Ter)
c.1245T>A (p.Cys415Ter)
19g.18786111C>ACA404885065COMPc.1343G>T (p.Cys448Phe)
c.1184G>T (p.Cys395Phe)
c.1244G>T (p.Cys415Phe)
19g.18786111C>GCA404885066COMPc.1343G>C (p.Cys448Ser)
c.1184G>C (p.Cys395Ser)
c.1244G>C (p.Cys415Ser)
19g.18786111C>TCA404885069COMPc.1343G>A (p.Cys448Tyr)
c.1184G>A (p.Cys395Tyr)
c.1244G>A (p.Cys415Tyr)
19g.18786112A>CCA404885072COMPc.1342T>G (p.Cys448Gly)
c.1183T>G (p.Cys395Gly)
c.1243T>G (p.Cys415Gly)
 ClinVar
19g.18786112A>GCA404885074COMPc.1342T>C (p.Cys448Arg)
c.1183T>C (p.Cys395Arg)
c.1243T>C (p.Cys415Arg)
19g.18786112A>TCA404885076COMPc.1342T>A (p.Cys448Ser)
c.1183T>A (p.Cys395Ser)
c.1243T>A (p.Cys415Ser)
19g.18786113G>ACA506052711COMPc.1341C>T (p.Asn447=)
c.1182C>T (p.Asn394=)
c.1242C>T (p.Asn414=)
 gnomAD v4 COSMIC
19g.18786113G>CCA404885090COMPc.1341C>G (p.Asn447Lys)
c.1182C>G (p.Asn394Lys)
c.1242C>G (p.Asn414Lys)
19g.18786113G>TCA404885081COMPc.1341C>A (p.Asn447Lys)
c.1182C>A (p.Asn394Lys)
c.1242C>A (p.Asn414Lys)
19g.18786114T>ACA404885094COMPc.1340A>T (p.Asn447Ile)
c.1181A>T (p.Asn394Ile)
c.1241A>T (p.Asn414Ile)
19g.18786114T>CCA404885099COMPc.1340A>G (p.Asn447Ser)
c.1181A>G (p.Asn394Ser)
c.1241A>G (p.Asn414Ser)
19g.18786114T>GCA404885102COMPc.1340A>C (p.Asn447Thr)
c.1181A>C (p.Asn394Thr)
c.1241A>C (p.Asn414Thr)
19g.18786115T>ACA404885105COMPc.1339A>T (p.Asn447Tyr)
c.1180A>T (p.Asn394Tyr)
c.1240A>T (p.Asn414Tyr)
19g.18786115T>CCA404885106COMPc.1339A>G (p.Asn447Asp)
c.1180A>G (p.Asn394Asp)
c.1240A>G (p.Asn414Asp)
19g.18786115T>GCA404885107COMPc.1339A>C (p.Asn447His)
c.1180A>C (p.Asn394His)
c.1240A>C (p.Asn414His)
19g.18786116G>ACA506052714COMPc.1338C>T (p.Asp446=)
c.1179C>T (p.Asp393=)
c.1239C>T (p.Asp413=)
19g.18786116G>CCA404885108COMPc.1338C>G (p.Asp446Glu)
c.1179C>G (p.Asp393Glu)
c.1239C>G (p.Asp413Glu)
19g.18786116G>TCA404885110COMPc.1338C>A (p.Asp446Glu)
c.1179C>A (p.Asp393Glu)
c.1239C>A (p.Asp413Glu)
19g.18786117T>ACA404885125COMPc.1337A>T (p.Asp446Val)
c.1178A>T (p.Asp393Val)
c.1238A>T (p.Asp413Val)
19g.18786117T>CCA404885127COMPc.1337A>G (p.Asp446Gly)
c.1178A>G (p.Asp393Gly)
c.1238A>G (p.Asp413Gly)
19g.18786117T>GCA404885133COMPc.1337A>C (p.Asp446Ala)
c.1178A>C (p.Asp393Ala)
c.1238A>C (p.Asp413Ala)

Number of alleles fetched