Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.18786098A>CCA506052692COMPc.1356T>G (p.Pro452=)
c.1197T>G (p.Pro399=)
c.1257T>G (p.Pro419=)
19g.18786098A>GCA506052693COMPc.1356T>C (p.Pro452=)
c.1197T>C (p.Pro399=)
c.1257T>C (p.Pro419=)
19g.18786098A>TCA506052694COMPc.1356T>A (p.Pro452=)
c.1197T>A (p.Pro399=)
c.1257T>A (p.Pro419=)
19g.18786099G>ACA9316432COMPc.1355C>T (p.Pro452Leu)
c.1196C>T (p.Pro399Leu)
c.1256C>T (p.Pro419Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18786099G>CCA404884986COMPc.1355C>G (p.Pro452Arg)
c.1196C>G (p.Pro399Arg)
c.1256C>G (p.Pro419Arg)
19g.18786099G=CA2326525561COMPc.1355C= (p.Pro452=)
c.1196C= (p.Pro399=)
c.1256C= (p.Pro419=)
19g.18786099G>TCA404884996COMPc.1355C>A (p.Pro452His)
c.1196C>A (p.Pro399His)
c.1256C>A (p.Pro419His)
19g.18786100G>ACA404885010COMPc.1354C>T (p.Pro452Ser)
c.1195C>T (p.Pro399Ser)
c.1255C>T (p.Pro419Ser)
 dbSNP gnomAD v4
19g.18786100G>CCA404885015COMPc.1354C>G (p.Pro452Ala)
c.1195C>G (p.Pro399Ala)
c.1255C>G (p.Pro419Ala)
19g.18786100G=CA2326525562COMPc.1354C= (p.Pro452=)
c.1195C= (p.Pro399=)
c.1255C= (p.Pro419=)
19g.18786100G>TCA404885013COMPc.1354C>A (p.Pro452Thr)
c.1195C>A (p.Pro399Thr)
c.1255C>A (p.Pro419Thr)
 dbSNP
19g.18786101C>ACA506052699COMPc.1353G>T (p.Val451=)
c.1194G>T (p.Val398=)
c.1254G>T (p.Val418=)
19g.18786101C=CA2326525563COMPc.1353G= (p.Val451=)
c.1194G= (p.Val398=)
c.1254G= (p.Val418=)
19g.18786101C>GCA506052698COMPc.1353G>C (p.Val451=)
c.1194G>C (p.Val398=)
c.1254G>C (p.Val418=)
19g.18786101C>TCA306255357COMPc.1353G>A (p.Val451=)
c.1194G>A (p.Val398=)
c.1254G>A (p.Val418=)
 dbSNP gnomAD v4
19g.18786101_18786102insCCAGGGACACA2695228433COMPc.1352_1353insTGTCCCTGG (p.Val451_Pro452insValProGly)
c.1193_1194insTGTCCCTGG (p.Val398_Pro399insValProGly)
c.1253_1254insTGTCCCTGG (p.Val418_Pro419insValProGly)
19g.18786102A=CA2326525564COMPc.1352T= (p.Val451=)
c.1193T= (p.Val398=)
c.1253T= (p.Val418=)
19g.18786102A>CCA9316433COMPc.1352T>G (p.Val451Gly)
c.1193T>G (p.Val398Gly)
c.1253T>G (p.Val418Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18786102A>GCA404885023COMPc.1352T>C (p.Val451Ala)
c.1193T>C (p.Val398Ala)
c.1253T>C (p.Val418Ala)
19g.18786102A>TCA404885020COMPc.1352T>A (p.Val451Glu)
c.1193T>A (p.Val398Glu)
c.1253T>A (p.Val418Glu)
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)

Number of alleles fetched