Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.224503647_224503653delinsCTTACCTCA1331555916CUL3c.1376_1377+5delinsAGGTAAG
c.1178_1179+5delinsAGGTAAG
c.1304_1305+5delinsAGGTAAG
n.672_673+5delinsAGGTAAG
c.98_99+5delinsAGGTAAG
c.1394_1395+5delinsAGGTAAG
c.1343_1344+5delinsAGGTAAG
c.1229_1230+5delinsAGGTAAG
c.1334_1335+5delinsAGGTAAG
c.1184_1185+5delinsAGGTAAG
c.1076_1077+5delinsAGGTAAG
2g.224503651_224503656delCA269963CUL3c.1376_1377+4del
c.1178_1179+4del
c.1304_1305+4del
n.672_673+4del
c.98_99+4del
c.1394_1395+4del
c.1343_1344+4del
c.1229_1230+4del
c.1334_1335+4del
c.1184_1185+4del
c.1076_1077+4del
 ClinVar dbSNP
2g.224503649T>ACA645514933CUL3c.1377+3A>T (n.1377+3A>T)
c.1179+3A>T (n.1179+3A>T)
c.1305+3A>T (n.1305+3A>T)
n.673+3A>T
c.99+3A>T (n.99+3A>T)
c.1395+3A>T (n.1395+3A>T)
c.1344+3A>T (n.1344+3A>T)
c.1230+3A>T (n.1230+3A>T)
c.1335+3A>T (n.1335+3A>T)
c.1185+3A>T (n.1185+3A>T)
c.1077+3A>T (n.1077+3A>T)
 COSMIC
2g.224503649T>CCA269966CUL3c.1377+3A>G (n.1377+3A>G)
c.1179+3A>G (n.1179+3A>G)
c.1305+3A>G (n.1305+3A>G)
n.673+3A>G
c.99+3A>G (n.99+3A>G)
c.1395+3A>G (n.1395+3A>G)
c.1344+3A>G (n.1344+3A>G)
c.1230+3A>G (n.1230+3A>G)
c.1335+3A>G (n.1335+3A>G)
c.1185+3A>G (n.1185+3A>G)
c.1077+3A>G (n.1077+3A>G)
 ClinVar dbSNP
2g.224503649T=CA1331555917CUL3c.1377+3A= (n.1377+3A=)
c.1179+3A= (n.1179+3A=)
c.1305+3A= (n.1305+3A=)
n.673+3A=
c.99+3A= (n.99+3A=)
c.1395+3A= (n.1395+3A=)
c.1344+3A= (n.1344+3A=)
c.1230+3A= (n.1230+3A=)
c.1335+3A= (n.1335+3A=)
c.1185+3A= (n.1185+3A=)
c.1077+3A= (n.1077+3A=)
2g.224503649_224503650insGCA66534320CUL3c.1377+2_1377+3insC (n.1377+2_1377+3insC)
c.1179+2_1179+3insC (n.1179+2_1179+3insC)
c.1305+2_1305+3insC (n.1305+2_1305+3insC)
n.673+2_673+3insC
c.99+2_99+3insC (n.99+2_99+3insC)
c.1395+2_1395+3insC (n.1395+2_1395+3insC)
c.1344+2_1344+3insC (n.1344+2_1344+3insC)
c.1230+2_1230+3insC (n.1230+2_1230+3insC)
c.1335+2_1335+3insC (n.1335+2_1335+3insC)
c.1185+2_1185+3insC (n.1185+2_1185+3insC)
c.1077+2_1077+3insC (n.1077+2_1077+3insC)
 dbSNP
2g.224503650A=CA1331555918CUL3c.1377+2T= (n.1377+2T=)
c.1179+2T= (n.1179+2T=)
c.1305+2T= (n.1305+2T=)
n.673+2T=
c.99+2T= (n.99+2T=)
c.1395+2T= (n.1395+2T=)
c.1344+2T= (n.1344+2T=)
c.1230+2T= (n.1230+2T=)
c.1335+2T= (n.1335+2T=)
c.1185+2T= (n.1185+2T=)
c.1077+2T= (n.1077+2T=)
2g.224503650A>CCA350826865CUL3c.1377+2T>G (n.1377+2T>G)
c.1179+2T>G (n.1179+2T>G)
c.1305+2T>G (n.1305+2T>G)
n.673+2T>G
c.99+2T>G (n.99+2T>G)
c.1395+2T>G (n.1395+2T>G)
c.1344+2T>G (n.1344+2T>G)
c.1230+2T>G (n.1230+2T>G)
c.1335+2T>G (n.1335+2T>G)
c.1185+2T>G (n.1185+2T>G)
c.1077+2T>G (n.1077+2T>G)
2g.224503650A>GCA350826867CUL3c.1377+2T>C (n.1377+2T>C)
c.1179+2T>C (n.1179+2T>C)
c.1305+2T>C (n.1305+2T>C)
n.673+2T>C
c.99+2T>C (n.99+2T>C)
c.1395+2T>C (n.1395+2T>C)
c.1344+2T>C (n.1344+2T>C)
c.1230+2T>C (n.1230+2T>C)
c.1335+2T>C (n.1335+2T>C)
c.1185+2T>C (n.1185+2T>C)
c.1077+2T>C (n.1077+2T>C)
2g.224503650A>TCA350826866CUL3c.1377+2T>A (n.1377+2T>A)
c.1179+2T>A (n.1179+2T>A)
c.1305+2T>A (n.1305+2T>A)
n.673+2T>A
c.99+2T>A (n.99+2T>A)
c.1395+2T>A (n.1395+2T>A)
c.1344+2T>A (n.1344+2T>A)
c.1230+2T>A (n.1230+2T>A)
c.1335+2T>A (n.1335+2T>A)
c.1185+2T>A (n.1185+2T>A)
c.1077+2T>A (n.1077+2T>A)
2g.224503651C>ACA350826868CUL3c.1377+1G>T (n.1377+1G>T)
c.1179+1G>T (n.1179+1G>T)
c.1305+1G>T (n.1305+1G>T)
n.673+1G>T
c.99+1G>T (n.99+1G>T)
c.1395+1G>T (n.1395+1G>T)
c.1344+1G>T (n.1344+1G>T)
c.1230+1G>T (n.1230+1G>T)
c.1335+1G>T (n.1335+1G>T)
c.1185+1G>T (n.1185+1G>T)
c.1077+1G>T (n.1077+1G>T)
 dbSNP
2g.224503651C=CA1331555919CUL3c.1377+1G= (n.1377+1G=)
c.1179+1G= (n.1179+1G=)
c.1305+1G= (n.1305+1G=)
n.673+1G=
c.99+1G= (n.99+1G=)
c.1395+1G= (n.1395+1G=)
c.1344+1G= (n.1344+1G=)
c.1230+1G= (n.1230+1G=)
c.1335+1G= (n.1335+1G=)
c.1185+1G= (n.1185+1G=)
c.1077+1G= (n.1077+1G=)
2g.224503651C>GCA269965CUL3c.1377+1G>C (n.1377+1G>C)
c.1179+1G>C (n.1179+1G>C)
c.1305+1G>C (n.1305+1G>C)
n.673+1G>C
c.99+1G>C (n.99+1G>C)
c.1395+1G>C (n.1395+1G>C)
c.1344+1G>C (n.1344+1G>C)
c.1230+1G>C (n.1230+1G>C)
c.1335+1G>C (n.1335+1G>C)
c.1185+1G>C (n.1185+1G>C)
c.1077+1G>C (n.1077+1G>C)
 ClinVar dbSNP
2g.224503651C>TCA350826869CUL3c.1377+1G>A (n.1377+1G>A)
c.1179+1G>A (n.1179+1G>A)
c.1305+1G>A (n.1305+1G>A)
n.673+1G>A
c.99+1G>A (n.99+1G>A)
c.1395+1G>A (n.1395+1G>A)
c.1344+1G>A (n.1344+1G>A)
c.1230+1G>A (n.1230+1G>A)
c.1335+1G>A (n.1335+1G>A)
c.1185+1G>A (n.1185+1G>A)
c.1077+1G>A (n.1077+1G>A)
 ClinVar dbSNP
2g.224503652dupCA269964CUL3c.1377+1dup
c.1179+1dup
c.1305+1dup
n.673+1dup
c.99+1dup
c.1395+1dup
c.1344+1dup
c.1230+1dup
c.1335+1dup
c.1185+1dup
c.1077+1dup
 ClinVar dbSNP
2g.224503652C>ACA350826870CUL3c.1377G>T (p.Lys459Asn)
c.1179G>T (p.Lys393Asn)
c.1305G>T (p.Lys435Asn)
n.673G>T
c.99G>T (p.Lys33Asn)
c.1395G>T (p.Lys465Asn)
c.1344G>T (p.Lys448Asn)
c.1230G>T (p.Lys410Asn)
c.1335G>T (p.Lys445Asn)
c.1185G>T (p.Lys395Asn)
c.1077G>T (p.Lys359Asn)
2g.224503652C=CA1331555920CUL3c.1377G= (p.Lys459=)
c.1179G= (p.Lys393=)
c.1305G= (p.Lys435=)
n.673G=
c.99G= (p.Lys33=)
c.1395G= (p.Lys465=)
c.1344G= (p.Lys448=)
c.1230G= (p.Lys410=)
c.1335G= (p.Lys445=)
c.1185G= (p.Lys395=)
c.1077G= (p.Lys359=)
2g.224503652C>GCA350826871CUL3c.1377G>C (p.Lys459Asn)
c.1179G>C (p.Lys393Asn)
c.1305G>C (p.Lys435Asn)
n.673G>C
c.99G>C (p.Lys33Asn)
c.1395G>C (p.Lys465Asn)
c.1344G>C (p.Lys448Asn)
c.1230G>C (p.Lys410Asn)
c.1335G>C (p.Lys445Asn)
c.1185G>C (p.Lys395Asn)
c.1077G>C (p.Lys359Asn)
2g.224503652C>TCA10602470CUL3c.1377G>A (p.Lys459=)
c.1179G>A (p.Lys393=)
c.1305G>A (p.Lys435=)
n.673G>A
c.99G>A (p.Lys33=)
c.1395G>A (p.Lys465=)
c.1344G>A (p.Lys448=)
c.1230G>A (p.Lys410=)
c.1335G>A (p.Lys445=)
c.1185G>A (p.Lys395=)
c.1077G>A (p.Lys359=)
 ClinVar dbSNP
2g.224503653T>ACA350826872CUL3c.1376A>T (p.Lys459Met)
c.1178A>T (p.Lys393Met)
c.1304A>T (p.Lys435Met)
n.672A>T
c.98A>T (p.Lys33Met)
c.1394A>T (p.Lys465Met)
c.1343A>T (p.Lys448Met)
c.1229A>T (p.Lys410Met)
c.1334A>T (p.Lys445Met)
c.1184A>T (p.Lys395Met)
c.1076A>T (p.Lys359Met)
 dbSNP COSMIC
2g.224503653T>CCA269962CUL3c.1376A>G (p.Lys459Arg)
c.1178A>G (p.Lys393Arg)
c.1304A>G (p.Lys435Arg)
n.672A>G
c.98A>G (p.Lys33Arg)
c.1394A>G (p.Lys465Arg)
c.1343A>G (p.Lys448Arg)
c.1229A>G (p.Lys410Arg)
c.1334A>G (p.Lys445Arg)
c.1184A>G (p.Lys395Arg)
c.1076A>G (p.Lys359Arg)
 ClinVar dbSNP gnomAD v4
2g.224503653T>GCA350826874CUL3c.1376A>C (p.Lys459Thr)
c.1178A>C (p.Lys393Thr)
c.1304A>C (p.Lys435Thr)
n.672A>C
c.98A>C (p.Lys33Thr)
c.1394A>C (p.Lys465Thr)
c.1343A>C (p.Lys448Thr)
c.1229A>C (p.Lys410Thr)
c.1334A>C (p.Lys445Thr)
c.1184A>C (p.Lys395Thr)
c.1076A>C (p.Lys359Thr)
2g.224503653T=CA1331555921CUL3c.1376A= (p.Lys459=)
c.1178A= (p.Lys393=)
c.1304A= (p.Lys435=)
n.672A=
c.98A= (p.Lys33=)
c.1394A= (p.Lys465=)
c.1343A= (p.Lys448=)
c.1229A= (p.Lys410=)
c.1334A= (p.Lys445=)
c.1184A= (p.Lys395=)
c.1076A= (p.Lys359=)
2g.224503654T>ACA350826876CUL3c.1375A>T (p.Lys459Ter)
c.1177A>T (p.Lys393Ter)
c.1303A>T (p.Lys435Ter)
n.671A>T
c.97A>T (p.Lys33Ter)
c.1393A>T (p.Lys465Ter)
c.1342A>T (p.Lys448Ter)
c.1228A>T (p.Lys410Ter)
c.1333A>T (p.Lys445Ter)
c.1183A>T (p.Lys395Ter)
c.1075A>T (p.Lys359Ter)
 dbSNP
2g.224503654T>CCA350826878CUL3c.1375A>G (p.Lys459Glu)
c.1177A>G (p.Lys393Glu)
c.1303A>G (p.Lys435Glu)
n.671A>G
c.97A>G (p.Lys33Glu)
c.1393A>G (p.Lys465Glu)
c.1342A>G (p.Lys448Glu)
c.1228A>G (p.Lys410Glu)
c.1333A>G (p.Lys445Glu)
c.1183A>G (p.Lys395Glu)
c.1075A>G (p.Lys359Glu)
 dbSNP
2g.224503654T>GCA350826880CUL3c.1375A>C (p.Lys459Gln)
c.1177A>C (p.Lys393Gln)
c.1303A>C (p.Lys435Gln)
n.671A>C
c.97A>C (p.Lys33Gln)
c.1393A>C (p.Lys465Gln)
c.1342A>C (p.Lys448Gln)
c.1228A>C (p.Lys410Gln)
c.1333A>C (p.Lys445Gln)
c.1183A>C (p.Lys395Gln)
c.1075A>C (p.Lys359Gln)
2g.224503655T>ACA350826882CUL3c.1374A>T (p.Leu458Phe)
c.1176A>T (p.Leu392Phe)
c.1302A>T (p.Leu434Phe)
n.670A>T
c.96A>T (p.Leu32Phe)
c.1392A>T (p.Leu464Phe)
c.1341A>T (p.Leu447Phe)
c.1227A>T (p.Leu409Phe)
c.1332A>T (p.Leu444Phe)
c.1182A>T (p.Leu394Phe)
c.1074A>T (p.Leu358Phe)
 dbSNP
2g.224503655T>CCA431492553CUL3c.1374A>G (p.Leu458=)
c.1176A>G (p.Leu392=)
c.1302A>G (p.Leu434=)
n.670A>G
c.96A>G (p.Leu32=)
c.1392A>G (p.Leu464=)
c.1341A>G (p.Leu447=)
c.1227A>G (p.Leu409=)
c.1332A>G (p.Leu444=)
c.1182A>G (p.Leu394=)
c.1074A>G (p.Leu358=)
2g.224503655T>GCA350826884CUL3c.1374A>C (p.Leu458Phe)
c.1176A>C (p.Leu392Phe)
c.1302A>C (p.Leu434Phe)
n.670A>C
c.96A>C (p.Leu32Phe)
c.1392A>C (p.Leu464Phe)
c.1341A>C (p.Leu447Phe)
c.1227A>C (p.Leu409Phe)
c.1332A>C (p.Leu444Phe)
c.1182A>C (p.Leu394Phe)
c.1074A>C (p.Leu358Phe)
2g.224503656A>CCA350826886CUL3c.1373T>G (p.Leu458Ter)
c.1175T>G (p.Leu392Ter)
c.1301T>G (p.Leu434Ter)
n.669T>G
c.95T>G (p.Leu32Ter)
c.1391T>G (p.Leu464Ter)
c.1340T>G (p.Leu447Ter)
c.1226T>G (p.Leu409Ter)
c.1331T>G (p.Leu444Ter)
c.1181T>G (p.Leu394Ter)
c.1073T>G (p.Leu358Ter)
2g.224503656A>GCA350826888CUL3c.1373T>C (p.Leu458Ser)
c.1175T>C (p.Leu392Ser)
c.1301T>C (p.Leu434Ser)
n.669T>C
c.95T>C (p.Leu32Ser)
c.1391T>C (p.Leu464Ser)
c.1340T>C (p.Leu447Ser)
c.1226T>C (p.Leu409Ser)
c.1331T>C (p.Leu444Ser)
c.1181T>C (p.Leu394Ser)
c.1073T>C (p.Leu358Ser)
2g.224503656A>TCA350826889CUL3c.1373T>A (p.Leu458Ter)
c.1175T>A (p.Leu392Ter)
c.1301T>A (p.Leu434Ter)
n.669T>A
c.95T>A (p.Leu32Ter)
c.1391T>A (p.Leu464Ter)
c.1340T>A (p.Leu447Ter)
c.1226T>A (p.Leu409Ter)
c.1331T>A (p.Leu444Ter)
c.1181T>A (p.Leu394Ter)
c.1073T>A (p.Leu358Ter)
 dbSNP
2g.224503657A=CA1331555922CUL3c.1372T= (p.Leu458=)
c.1174T= (p.Leu392=)
c.1300T= (p.Leu434=)
n.668T=
c.94T= (p.Leu32=)
c.1390T= (p.Leu464=)
c.1339T= (p.Leu447=)
c.1225T= (p.Leu409=)
c.1330T= (p.Leu444=)
c.1180T= (p.Leu394=)
c.1072T= (p.Leu358=)
2g.224503657A>CCA350826894CUL3c.1372T>G (p.Leu458Val)
c.1174T>G (p.Leu392Val)
c.1300T>G (p.Leu434Val)
n.668T>G
c.94T>G (p.Leu32Val)
c.1390T>G (p.Leu464Val)
c.1339T>G (p.Leu447Val)
c.1225T>G (p.Leu409Val)
c.1330T>G (p.Leu444Val)
c.1180T>G (p.Leu394Val)
c.1072T>G (p.Leu358Val)
2g.224503657A>GCA431492555CUL3c.1372T>C (p.Leu458=)
c.1174T>C (p.Leu392=)
c.1300T>C (p.Leu434=)
n.668T>C
c.94T>C (p.Leu32=)
c.1390T>C (p.Leu464=)
c.1339T>C (p.Leu447=)
c.1225T>C (p.Leu409=)
c.1330T>C (p.Leu444=)
c.1180T>C (p.Leu394=)
c.1072T>C (p.Leu358=)
 dbSNP
2g.224503657A>TCA350826892CUL3c.1372T>A (p.Leu458Ile)
c.1174T>A (p.Leu392Ile)
c.1300T>A (p.Leu434Ile)
n.668T>A
c.94T>A (p.Leu32Ile)
c.1390T>A (p.Leu464Ile)
c.1339T>A (p.Leu447Ile)
c.1225T>A (p.Leu409Ile)
c.1330T>A (p.Leu444Ile)
c.1180T>A (p.Leu394Ile)
c.1072T>A (p.Leu358Ile)
 dbSNP
2g.224503658C>ACA350826895CUL3c.1371G>T (p.Lys457Asn)
c.1173G>T (p.Lys391Asn)
c.1299G>T (p.Lys433Asn)
n.667G>T
c.93G>T (p.Lys31Asn)
c.1389G>T (p.Lys463Asn)
c.1338G>T (p.Lys446Asn)
c.1224G>T (p.Lys408Asn)
c.1329G>T (p.Lys443Asn)
c.1179G>T (p.Lys393Asn)
c.1071G>T (p.Lys357Asn)
2g.224503658C>GCA350826897CUL3c.1371G>C (p.Lys457Asn)
c.1173G>C (p.Lys391Asn)
c.1299G>C (p.Lys433Asn)
n.667G>C
c.93G>C (p.Lys31Asn)
c.1389G>C (p.Lys463Asn)
c.1338G>C (p.Lys446Asn)
c.1224G>C (p.Lys408Asn)
c.1329G>C (p.Lys443Asn)
c.1179G>C (p.Lys393Asn)
c.1071G>C (p.Lys357Asn)
2g.224503658C>TCA431492558CUL3c.1371G>A (p.Lys457=)
c.1173G>A (p.Lys391=)
c.1299G>A (p.Lys433=)
n.667G>A
c.93G>A (p.Lys31=)
c.1389G>A (p.Lys463=)
c.1338G>A (p.Lys446=)
c.1224G>A (p.Lys408=)
c.1329G>A (p.Lys443=)
c.1179G>A (p.Lys393=)
c.1071G>A (p.Lys357=)
2g.224503659T>ACA350826900CUL3c.1370A>T (p.Lys457Met)
c.1172A>T (p.Lys391Met)
c.1298A>T (p.Lys433Met)
n.666A>T
c.92A>T (p.Lys31Met)
c.1388A>T (p.Lys463Met)
c.1337A>T (p.Lys446Met)
c.1223A>T (p.Lys408Met)
c.1328A>T (p.Lys443Met)
c.1178A>T (p.Lys393Met)
c.1070A>T (p.Lys357Met)
2g.224503659T>CCA350826901CUL3c.1370A>G (p.Lys457Arg)
c.1172A>G (p.Lys391Arg)
c.1298A>G (p.Lys433Arg)
n.666A>G
c.92A>G (p.Lys31Arg)
c.1388A>G (p.Lys463Arg)
c.1337A>G (p.Lys446Arg)
c.1223A>G (p.Lys408Arg)
c.1328A>G (p.Lys443Arg)
c.1178A>G (p.Lys393Arg)
c.1070A>G (p.Lys357Arg)
 dbSNP
2g.224503659T>GCA350826902CUL3c.1370A>C (p.Lys457Thr)
c.1172A>C (p.Lys391Thr)
c.1298A>C (p.Lys433Thr)
n.666A>C
c.92A>C (p.Lys31Thr)
c.1388A>C (p.Lys463Thr)
c.1337A>C (p.Lys446Thr)
c.1223A>C (p.Lys408Thr)
c.1328A>C (p.Lys443Thr)
c.1178A>C (p.Lys393Thr)
c.1070A>C (p.Lys357Thr)
2g.224503660T>ACA350826904CUL3c.1369A>T (p.Lys457Ter)
c.1171A>T (p.Lys391Ter)
c.1297A>T (p.Lys433Ter)
n.665A>T
c.91A>T (p.Lys31Ter)
c.1387A>T (p.Lys463Ter)
c.1336A>T (p.Lys446Ter)
c.1222A>T (p.Lys408Ter)
c.1327A>T (p.Lys443Ter)
c.1177A>T (p.Lys393Ter)
c.1069A>T (p.Lys357Ter)
 dbSNP
2g.224503660T>CCA350826906CUL3c.1369A>G (p.Lys457Glu)
c.1171A>G (p.Lys391Glu)
c.1297A>G (p.Lys433Glu)
n.665A>G
c.91A>G (p.Lys31Glu)
c.1387A>G (p.Lys463Glu)
c.1336A>G (p.Lys446Glu)
c.1222A>G (p.Lys408Glu)
c.1327A>G (p.Lys443Glu)
c.1177A>G (p.Lys393Glu)
c.1069A>G (p.Lys357Glu)
 dbSNP
2g.224503660T>GCA350826907CUL3c.1369A>C (p.Lys457Gln)
c.1171A>C (p.Lys391Gln)
c.1297A>C (p.Lys433Gln)
n.665A>C
c.91A>C (p.Lys31Gln)
c.1387A>C (p.Lys463Gln)
c.1336A>C (p.Lys446Gln)
c.1222A>C (p.Lys408Gln)
c.1327A>C (p.Lys443Gln)
c.1177A>C (p.Lys393Gln)
c.1069A>C (p.Lys357Gln)
2g.224503661A>CCA431492560CUL3c.1368T>G (p.Ser456=)
c.1170T>G (p.Ser390=)
c.1296T>G (p.Ser432=)
n.664T>G
c.90T>G (p.Ser30=)
c.1386T>G (p.Ser462=)
c.1335T>G (p.Ser445=)
c.1221T>G (p.Ser407=)
c.1326T>G (p.Ser442=)
c.1176T>G (p.Ser392=)
c.1068T>G (p.Ser356=)
2g.224503661A>GCA431492563CUL3c.1368T>C (p.Ser456=)
c.1170T>C (p.Ser390=)
c.1296T>C (p.Ser432=)
n.664T>C
c.90T>C (p.Ser30=)
c.1386T>C (p.Ser462=)
c.1335T>C (p.Ser445=)
c.1221T>C (p.Ser407=)
c.1326T>C (p.Ser442=)
c.1176T>C (p.Ser392=)
c.1068T>C (p.Ser356=)
2g.224503661A>TCA431492562CUL3c.1368T>A (p.Ser456=)
c.1170T>A (p.Ser390=)
c.1296T>A (p.Ser432=)
n.664T>A
c.90T>A (p.Ser30=)
c.1386T>A (p.Ser462=)
c.1335T>A (p.Ser445=)
c.1221T>A (p.Ser407=)
c.1326T>A (p.Ser442=)
c.1176T>A (p.Ser392=)
c.1068T>A (p.Ser356=)
 dbSNP
2g.224503662G>ACA350826909CUL3c.1367C>T (p.Ser456Phe)
c.1169C>T (p.Ser390Phe)
c.1295C>T (p.Ser432Phe)
n.663C>T
c.89C>T (p.Ser30Phe)
c.1385C>T (p.Ser462Phe)
c.1334C>T (p.Ser445Phe)
c.1220C>T (p.Ser407Phe)
c.1325C>T (p.Ser442Phe)
c.1175C>T (p.Ser392Phe)
c.1067C>T (p.Ser356Phe)
 dbSNP gnomAD v4
2g.224503662G>CCA350826910CUL3c.1367C>G (p.Ser456Cys)
c.1169C>G (p.Ser390Cys)
c.1295C>G (p.Ser432Cys)
n.663C>G
c.89C>G (p.Ser30Cys)
c.1385C>G (p.Ser462Cys)
c.1334C>G (p.Ser445Cys)
c.1220C>G (p.Ser407Cys)
c.1325C>G (p.Ser442Cys)
c.1175C>G (p.Ser392Cys)
c.1067C>G (p.Ser356Cys)
 dbSNP

Number of alleles fetched