Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.7120647_7120648delCA2697556150INSRc.3633_3634del (p.Val1212LeufsTer6)
c.3597_3598del (p.Val1200LeufsTer6)
n.544_545del
c.3708_3709del (p.Val1237LeufsTer6)
c.3672_3673del (p.Val1225LeufsTer6)
c.3630_3631del (p.Val1211LeufsTer6)
c.3594_3595del (p.Val1199LeufsTer6)
ClinVar
19g.7120648C>ACA403669373INSRc.3631G>T (p.Gly1211Trp)
c.3595G>T (p.Gly1199Trp)
n.542G>T
c.3706G>T (p.Gly1236Trp)
c.3670G>T (p.Gly1224Trp)
c.3628G>T (p.Gly1210Trp)
c.3592G>T (p.Gly1198Trp)
19g.7120648C>GCA403669374INSRc.3631G>C (p.Gly1211Arg)
c.3595G>C (p.Gly1199Arg)
n.542G>C
c.3706G>C (p.Gly1236Arg)
c.3670G>C (p.Gly1224Arg)
c.3628G>C (p.Gly1210Arg)
c.3592G>C (p.Gly1198Arg)
19g.7120648C>TCA403669375INSRc.3631G>A (p.Gly1211Arg)
c.3595G>A (p.Gly1199Arg)
n.542G>A
c.3706G>A (p.Gly1236Arg)
c.3670G>A (p.Gly1224Arg)
c.3628G>A (p.Gly1210Arg)
c.3592G>A (p.Gly1198Arg)
COSMIC COSMIC
19g.7120649A>CCA403669376INSRc.3630T>G (p.Asp1210Glu)
c.3594T>G (p.Asp1198Glu)
n.541T>G
c.3705T>G (p.Asp1235Glu)
c.3669T>G (p.Asp1223Glu)
c.3627T>G (p.Asp1209Glu)
c.3591T>G (p.Asp1197Glu)
19g.7120649A>GCA505216644INSRc.3630T>C (p.Asp1210=)
c.3594T>C (p.Asp1198=)
n.541T>C
c.3705T>C (p.Asp1235=)
c.3669T>C (p.Asp1223=)
c.3627T>C (p.Asp1209=)
c.3591T>C (p.Asp1197=)
19g.7120649A>TCA403669377INSRc.3630T>A (p.Asp1210Glu)
c.3594T>A (p.Asp1198Glu)
n.541T>A
c.3705T>A (p.Asp1235Glu)
c.3669T>A (p.Asp1223Glu)
c.3627T>A (p.Asp1209Glu)
c.3591T>A (p.Asp1197Glu)
19g.7120650T>ACA403669380INSRc.3629A>T (p.Asp1210Val)
c.3593A>T (p.Asp1198Val)
n.540A>T
c.3704A>T (p.Asp1235Val)
c.3668A>T (p.Asp1223Val)
c.3626A>T (p.Asp1209Val)
c.3590A>T (p.Asp1197Val)
19g.7120650T>CCA403669379INSRc.3629A>G (p.Asp1210Gly)
c.3593A>G (p.Asp1198Gly)
n.540A>G
c.3704A>G (p.Asp1235Gly)
c.3668A>G (p.Asp1223Gly)
c.3626A>G (p.Asp1209Gly)
c.3590A>G (p.Asp1197Gly)
dbSNP gnomAD v2
19g.7120650T>GCA403669378INSRc.3629A>C (p.Asp1210Ala)
c.3593A>C (p.Asp1198Ala)
n.540A>C
c.3704A>C (p.Asp1235Ala)
c.3668A>C (p.Asp1223Ala)
c.3626A>C (p.Asp1209Ala)
c.3590A>C (p.Asp1197Ala)
19g.7120650T=CA2320765515INSRc.3629A= (p.Asp1210=)
c.3593A= (p.Asp1198=)
n.540A=
c.3704A= (p.Asp1235=)
c.3668A= (p.Asp1223=)
c.3626A= (p.Asp1209=)
c.3590A= (p.Asp1197=)
19g.7120651C>ACA403669382INSRc.3628G>T (p.Asp1210Tyr)
c.3592G>T (p.Asp1198Tyr)
n.539G>T
c.3703G>T (p.Asp1235Tyr)
c.3667G>T (p.Asp1223Tyr)
c.3625G>T (p.Asp1209Tyr)
c.3589G>T (p.Asp1197Tyr)
19g.7120651C>GCA403669381INSRc.3628G>C (p.Asp1210His)
c.3592G>C (p.Asp1198His)
n.539G>C
c.3703G>C (p.Asp1235His)
c.3667G>C (p.Asp1223His)
c.3625G>C (p.Asp1209His)
c.3589G>C (p.Asp1197His)
19g.7120651C>TCA403669383INSRc.3628G>A (p.Asp1210Asn)
c.3592G>A (p.Asp1198Asn)
n.539G>A
c.3703G>A (p.Asp1235Asn)
c.3667G>A (p.Asp1223Asn)
c.3625G>A (p.Asp1209Asn)
c.3589G>A (p.Asp1197Asn)
gnomAD v4
19g.7120652C>ACA403669384INSRc.3627G>T (p.Lys1209Asn)
c.3591G>T (p.Lys1197Asn)
n.538G>T
c.3702G>T (p.Lys1234Asn)
c.3666G>T (p.Lys1222Asn)
c.3624G>T (p.Lys1208Asn)
c.3588G>T (p.Lys1196Asn)
19g.7120652C>GCA403669385INSRc.3627G>C (p.Lys1209Asn)
c.3591G>C (p.Lys1197Asn)
n.538G>C
c.3702G>C (p.Lys1234Asn)
c.3666G>C (p.Lys1222Asn)
c.3624G>C (p.Lys1208Asn)
c.3588G>C (p.Lys1196Asn)
19g.7120652C>TCA505216645INSRc.3627G>A (p.Lys1209=)
c.3591G>A (p.Lys1197=)
n.538G>A
c.3702G>A (p.Lys1234=)
c.3666G>A (p.Lys1222=)
c.3624G>A (p.Lys1208=)
c.3588G>A (p.Lys1196=)
19g.7120653T>ACA403669386INSRc.3626A>T (p.Lys1209Met)
c.3590A>T (p.Lys1197Met)
n.537A>T
c.3701A>T (p.Lys1234Met)
c.3665A>T (p.Lys1222Met)
c.3623A>T (p.Lys1208Met)
c.3587A>T (p.Lys1196Met)
19g.7120653T>CCA403669387INSRc.3626A>G (p.Lys1209Arg)
c.3590A>G (p.Lys1197Arg)
n.537A>G
c.3701A>G (p.Lys1234Arg)
c.3665A>G (p.Lys1222Arg)
c.3623A>G (p.Lys1208Arg)
c.3587A>G (p.Lys1196Arg)
19g.7120653T>GCA403669388INSRc.3626A>C (p.Lys1209Thr)
c.3590A>C (p.Lys1197Thr)
n.537A>C
c.3701A>C (p.Lys1234Thr)
c.3665A>C (p.Lys1222Thr)
c.3623A>C (p.Lys1208Thr)
c.3587A>C (p.Lys1196Thr)
19g.7120654T>ACA403669389INSRc.3625A>T (p.Lys1209Ter)
c.3589A>T (p.Lys1197Ter)
n.536A>T
c.3700A>T (p.Lys1234Ter)
c.3664A>T (p.Lys1222Ter)
c.3622A>T (p.Lys1208Ter)
c.3586A>T (p.Lys1196Ter)
19g.7120654T>CCA403669390INSRc.3625A>G (p.Lys1209Glu)
c.3589A>G (p.Lys1197Glu)
n.536A>G
c.3700A>G (p.Lys1234Glu)
c.3664A>G (p.Lys1222Glu)
c.3622A>G (p.Lys1208Glu)
c.3586A>G (p.Lys1196Glu)
19g.7120654T>GCA403669391INSRc.3625A>C (p.Lys1209Gln)
c.3589A>C (p.Lys1197Gln)
n.536A>C
c.3700A>C (p.Lys1234Gln)
c.3664A>C (p.Lys1222Gln)
c.3622A>C (p.Lys1208Gln)
c.3586A>C (p.Lys1196Gln)
19g.7120655C>ACA505216647INSRc.3624G>T (p.Leu1208=)
c.3588G>T (p.Leu1196=)
n.535G>T
c.3699G>T (p.Leu1233=)
c.3663G>T (p.Leu1221=)
c.3621G>T (p.Leu1207=)
c.3585G>T (p.Leu1195=)
19g.7120655C=CA2320765516INSRc.3624G= (p.Leu1208=)
c.3588G= (p.Leu1196=)
n.535G=
c.3699G= (p.Leu1233=)
c.3663G= (p.Leu1221=)
c.3621G= (p.Leu1207=)
c.3585G= (p.Leu1195=)
19g.7120655C>GCA505216648INSRc.3624G>C (p.Leu1208=)
c.3588G>C (p.Leu1196=)
n.535G>C
c.3699G>C (p.Leu1233=)
c.3663G>C (p.Leu1221=)
c.3621G>C (p.Leu1207=)
c.3585G>C (p.Leu1195=)
19g.7120655C>TCA505216649INSRc.3624G>A (p.Leu1208=)
c.3588G>A (p.Leu1196=)
n.535G>A
c.3699G>A (p.Leu1233=)
c.3663G>A (p.Leu1221=)
c.3621G>A (p.Leu1207=)
c.3585G>A (p.Leu1195=)
dbSNP gnomAD v4
19g.7120656A>CCA403669392INSRc.3623T>G (p.Leu1208Arg)
c.3587T>G (p.Leu1196Arg)
n.534T>G
c.3698T>G (p.Leu1233Arg)
c.3662T>G (p.Leu1221Arg)
c.3620T>G (p.Leu1207Arg)
c.3584T>G (p.Leu1195Arg)
19g.7120656A>GCA403669393INSRc.3623T>C (p.Leu1208Pro)
c.3587T>C (p.Leu1196Pro)
n.534T>C
c.3698T>C (p.Leu1233Pro)
c.3662T>C (p.Leu1221Pro)
c.3620T>C (p.Leu1207Pro)
c.3584T>C (p.Leu1195Pro)
19g.7120656A>TCA403669394INSRc.3623T>A (p.Leu1208Gln)
c.3587T>A (p.Leu1196Gln)
n.534T>A
c.3698T>A (p.Leu1233Gln)
c.3662T>A (p.Leu1221Gln)
c.3620T>A (p.Leu1207Gln)
c.3584T>A (p.Leu1195Gln)
19g.7120657G>ACA505216651INSRc.3622C>T (p.Leu1208=)
c.3586C>T (p.Leu1196=)
n.533C>T
c.3697C>T (p.Leu1233=)
c.3661C>T (p.Leu1221=)
c.3619C>T (p.Leu1207=)
c.3583C>T (p.Leu1195=)
19g.7120657G>CCA403669395INSRc.3622C>G (p.Leu1208Val)
c.3586C>G (p.Leu1196Val)
n.533C>G
c.3697C>G (p.Leu1233Val)
c.3661C>G (p.Leu1221Val)
c.3619C>G (p.Leu1207Val)
c.3583C>G (p.Leu1195Val)
19g.7120657G>TCA403669396INSRc.3622C>A (p.Leu1208Met)
c.3586C>A (p.Leu1196Met)
n.533C>A
c.3697C>A (p.Leu1233Met)
c.3661C>A (p.Leu1221Met)
c.3619C>A (p.Leu1207Met)
c.3583C>A (p.Leu1195Met)
19g.7120658G>ACA9135206INSRc.3621C>T (p.Ser1207=)
c.3585C>T (p.Ser1195=)
n.532C>T
c.3696C>T (p.Ser1232=)
c.3660C>T (p.Ser1220=)
c.3618C>T (p.Ser1206=)
c.3582C>T (p.Ser1194=)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.7120658G>CCA9135205INSRc.3621C>G (p.Ser1207=)
c.3585C>G (p.Ser1195=)
n.532C>G
c.3696C>G (p.Ser1232=)
c.3660C>G (p.Ser1220=)
c.3618C>G (p.Ser1206=)
c.3582C>G (p.Ser1194=)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.7120658G=CA2320765517INSRc.3621C= (p.Ser1207=)
c.3585C= (p.Ser1195=)
n.532C=
c.3696C= (p.Ser1232=)
c.3660C= (p.Ser1220=)
c.3618C= (p.Ser1206=)
c.3582C= (p.Ser1194=)
19g.7120658G>TCA505216652INSRc.3621C>A (p.Ser1207=)
c.3585C>A (p.Ser1195=)
n.532C>A
c.3696C>A (p.Ser1232=)
c.3660C>A (p.Ser1220=)
c.3618C>A (p.Ser1206=)
c.3582C>A (p.Ser1194=)
19g.7120659G>ACA403669397INSRc.3620C>T (p.Ser1207Phe)
c.3584C>T (p.Ser1195Phe)
n.531C>T
c.3695C>T (p.Ser1232Phe)
c.3659C>T (p.Ser1220Phe)
c.3617C>T (p.Ser1206Phe)
c.3581C>T (p.Ser1194Phe)
19g.7120659G>CCA403669398INSRc.3620C>G (p.Ser1207Cys)
c.3584C>G (p.Ser1195Cys)
n.531C>G
c.3695C>G (p.Ser1232Cys)
c.3659C>G (p.Ser1220Cys)
c.3617C>G (p.Ser1206Cys)
c.3581C>G (p.Ser1194Cys)
gnomAD v4
19g.7120659G>TCA403669399INSRc.3620C>A (p.Ser1207Tyr)
c.3584C>A (p.Ser1195Tyr)
n.531C>A
c.3695C>A (p.Ser1232Tyr)
c.3659C>A (p.Ser1220Tyr)
c.3617C>A (p.Ser1206Tyr)
c.3581C>A (p.Ser1194Tyr)
COSMIC COSMIC
19g.7120660A>CCA403669400INSRc.3619T>G (p.Ser1207Ala)
c.3583T>G (p.Ser1195Ala)
n.530T>G
c.3694T>G (p.Ser1232Ala)
c.3658T>G (p.Ser1220Ala)
c.3616T>G (p.Ser1206Ala)
c.3580T>G (p.Ser1194Ala)
19g.7120660A>GCA403669401INSRc.3619T>C (p.Ser1207Pro)
c.3583T>C (p.Ser1195Pro)
n.530T>C
c.3694T>C (p.Ser1232Pro)
c.3658T>C (p.Ser1220Pro)
c.3616T>C (p.Ser1206Pro)
c.3580T>C (p.Ser1194Pro)
19g.7120660A>TCA403669402INSRc.3619T>A (p.Ser1207Thr)
c.3583T>A (p.Ser1195Thr)
n.530T>A
c.3694T>A (p.Ser1232Thr)
c.3658T>A (p.Ser1220Thr)
c.3616T>A (p.Ser1206Thr)
c.3580T>A (p.Ser1194Thr)
19g.7120661C>ACA403669403INSRc.3618G>T (p.Glu1206Asp)
c.3582G>T (p.Glu1194Asp)
n.529G>T
c.3693G>T (p.Glu1231Asp)
c.3657G>T (p.Glu1219Asp)
c.3615G>T (p.Glu1205Asp)
c.3579G>T (p.Glu1193Asp)
19g.7120661C=CA2320765518INSRc.3618G= (p.Glu1206=)
c.3582G= (p.Glu1194=)
n.529G=
c.3693G= (p.Glu1231=)
c.3657G= (p.Glu1219=)
c.3615G= (p.Glu1205=)
c.3579G= (p.Glu1193=)
19g.7120661C>GCA403669404INSRc.3618G>C (p.Glu1206Asp)
c.3582G>C (p.Glu1194Asp)
n.529G>C
c.3693G>C (p.Glu1231Asp)
c.3657G>C (p.Glu1219Asp)
c.3615G>C (p.Glu1205Asp)
c.3579G>C (p.Glu1193Asp)
19g.7120661C>TCA9135207INSRc.3618G>A (p.Glu1206=)
c.3582G>A (p.Glu1194=)
n.529G>A
c.3693G>A (p.Glu1231=)
c.3657G>A (p.Glu1219=)
c.3615G>A (p.Glu1205=)
c.3579G>A (p.Glu1193=)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
19g.7120662T>ACA403669405INSRc.3617A>T (p.Glu1206Val)
c.3581A>T (p.Glu1194Val)
n.528A>T
c.3692A>T (p.Glu1231Val)
c.3656A>T (p.Glu1219Val)
c.3614A>T (p.Glu1205Val)
c.3578A>T (p.Glu1193Val)
19g.7120662T>CCA9135208INSRc.3617A>G (p.Glu1206Gly)
c.3581A>G (p.Glu1194Gly)
n.528A>G
c.3692A>G (p.Glu1231Gly)
c.3656A>G (p.Glu1219Gly)
c.3614A>G (p.Glu1205Gly)
c.3578A>G (p.Glu1193Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.7120662T>GCA403669406INSRc.3617A>C (p.Glu1206Ala)
c.3581A>C (p.Glu1194Ala)
n.528A>C
c.3692A>C (p.Glu1231Ala)
c.3656A>C (p.Glu1219Ala)
c.3614A>C (p.Glu1205Ala)
c.3578A>C (p.Glu1193Ala)
19g.7120662T=CA2320765519INSRc.3617A= (p.Glu1206=)
c.3581A= (p.Glu1194=)
n.528A=
c.3692A= (p.Glu1231=)
c.3656A= (p.Glu1219=)
c.3614A= (p.Glu1205=)
c.3578A= (p.Glu1193=)
19g.7120663C>ACA403669408INSRc.3616G>T (p.Glu1206Ter)
c.3580G>T (p.Glu1194Ter)
n.527G>T
c.3691G>T (p.Glu1231Ter)
c.3655G>T (p.Glu1219Ter)
c.3613G>T (p.Glu1205Ter)
c.3577G>T (p.Glu1193Ter)
19g.7120663C>GCA403669409INSRc.3616G>C (p.Glu1206Gln)
c.3580G>C (p.Glu1194Gln)
n.527G>C
c.3691G>C (p.Glu1231Gln)
c.3655G>C (p.Glu1219Gln)
c.3613G>C (p.Glu1205Gln)
c.3577G>C (p.Glu1193Gln)
19g.7120663C>TCA403669407INSRc.3616G>A (p.Glu1206Lys)
c.3580G>A (p.Glu1194Lys)
n.527G>A
c.3691G>A (p.Glu1231Lys)
c.3655G>A (p.Glu1219Lys)
c.3613G>A (p.Glu1205Lys)
c.3577G>A (p.Glu1193Lys)
19g.7120664C>ACA505216658INSRc.3615G>T (p.Pro1205=)
c.3579G>T (p.Pro1193=)
n.526G>T
c.3690G>T (p.Pro1230=)
c.3654G>T (p.Pro1218=)
c.3612G>T (p.Pro1204=)
c.3576G>T (p.Pro1192=)
19g.7120664C=CA2320765520INSRc.3615G= (p.Pro1205=)
c.3579G= (p.Pro1193=)
n.526G=
c.3690G= (p.Pro1230=)
c.3654G= (p.Pro1218=)
c.3612G= (p.Pro1204=)
c.3576G= (p.Pro1192=)
19g.7120664C>GCA505216657INSRc.3615G>C (p.Pro1205=)
c.3579G>C (p.Pro1193=)
n.526G>C
c.3690G>C (p.Pro1230=)
c.3654G>C (p.Pro1218=)
c.3612G>C (p.Pro1204=)
c.3576G>C (p.Pro1192=)
19g.7120664C>TCA9135209INSRc.3615G>A (p.Pro1205=)
c.3579G>A (p.Pro1193=)
n.526G>A
c.3690G>A (p.Pro1230=)
c.3654G>A (p.Pro1218=)
c.3612G>A (p.Pro1204=)
c.3576G>A (p.Pro1192=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7120665G>ACA403669410INSRc.3614C>T (p.Pro1205Leu)
c.3578C>T (p.Pro1193Leu)
n.525C>T
c.3689C>T (p.Pro1230Leu)
c.3653C>T (p.Pro1218Leu)
c.3611C>T (p.Pro1204Leu)
c.3575C>T (p.Pro1192Leu)
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.7120665G>CCA403669411INSRc.3614C>G (p.Pro1205Arg)
c.3578C>G (p.Pro1193Arg)
n.525C>G
c.3689C>G (p.Pro1230Arg)
c.3653C>G (p.Pro1218Arg)
c.3611C>G (p.Pro1204Arg)
c.3575C>G (p.Pro1192Arg)
19g.7120665G=CA2320765521INSRc.3614C= (p.Pro1205=)
c.3578C= (p.Pro1193=)
n.525C=
c.3689C= (p.Pro1230=)
c.3653C= (p.Pro1218=)
c.3611C= (p.Pro1204=)
c.3575C= (p.Pro1192=)
19g.7120665G>TCA403669412INSRc.3614C>A (p.Pro1205Gln)
c.3578C>A (p.Pro1193Gln)
n.525C>A
c.3689C>A (p.Pro1230Gln)
c.3653C>A (p.Pro1218Gln)
c.3611C>A (p.Pro1204Gln)
c.3575C>A (p.Pro1192Gln)
19g.7120666G>ACA403669415INSRc.3613C>T (p.Pro1205Ser)
c.3577C>T (p.Pro1193Ser)
n.524C>T
c.3688C>T (p.Pro1230Ser)
c.3652C>T (p.Pro1218Ser)
c.3610C>T (p.Pro1204Ser)
c.3574C>T (p.Pro1192Ser)
19g.7120666G>CCA403669414INSRc.3613C>G (p.Pro1205Ala)
c.3577C>G (p.Pro1193Ala)
n.524C>G
c.3688C>G (p.Pro1230Ala)
c.3652C>G (p.Pro1218Ala)
c.3610C>G (p.Pro1204Ala)
c.3574C>G (p.Pro1192Ala)
19g.7120666G>TCA403669413INSRc.3613C>A (p.Pro1205Thr)
c.3577C>A (p.Pro1193Thr)
n.524C>A
c.3688C>A (p.Pro1230Thr)
c.3652C>A (p.Pro1218Thr)
c.3610C>A (p.Pro1204Thr)
c.3574C>A (p.Pro1192Thr)
19g.7120667T>ACA505216661INSRc.3612A>T (p.Ala1204=)
c.3576A>T (p.Ala1192=)
n.523A>T
c.3687A>T (p.Ala1229=)
c.3651A>T (p.Ala1217=)
c.3609A>T (p.Ala1203=)
c.3573A>T (p.Ala1191=)
gnomAD v4
19g.7120667T>CCA505216663INSRc.3612A>G (p.Ala1204=)
c.3576A>G (p.Ala1192=)
n.523A>G
c.3687A>G (p.Ala1229=)
c.3651A>G (p.Ala1217=)
c.3609A>G (p.Ala1203=)
c.3573A>G (p.Ala1191=)
dbSNP COSMIC COSMIC
19g.7120667T>GCA505216664INSRc.3612A>C (p.Ala1204=)
c.3576A>C (p.Ala1192=)
n.523A>C
c.3687A>C (p.Ala1229=)
c.3651A>C (p.Ala1217=)
c.3609A>C (p.Ala1203=)
c.3573A>C (p.Ala1191=)
19g.7120668G>ACA403669416INSRc.3611C>T (p.Ala1204Val)
c.3575C>T (p.Ala1192Val)
n.522C>T
c.3686C>T (p.Ala1229Val)
c.3650C>T (p.Ala1217Val)
c.3608C>T (p.Ala1203Val)
c.3572C>T (p.Ala1191Val)
19g.7120668G>CCA403669417INSRc.3611C>G (p.Ala1204Gly)
c.3575C>G (p.Ala1192Gly)
n.522C>G
c.3686C>G (p.Ala1229Gly)
c.3650C>G (p.Ala1217Gly)
c.3608C>G (p.Ala1203Gly)
c.3572C>G (p.Ala1191Gly)
19g.7120668G>TCA403669418INSRc.3611C>A (p.Ala1204Glu)
c.3575C>A (p.Ala1192Glu)
n.522C>A
c.3686C>A (p.Ala1229Glu)
c.3650C>A (p.Ala1217Glu)
c.3608C>A (p.Ala1203Glu)
c.3572C>A (p.Ala1191Glu)
19g.7120669C>ACA403669419INSRc.3610G>T (p.Ala1204Ser)
c.3574G>T (p.Ala1192Ser)
n.521G>T
c.3685G>T (p.Ala1229Ser)
c.3649G>T (p.Ala1217Ser)
c.3607G>T (p.Ala1203Ser)
c.3571G>T (p.Ala1191Ser)
COSMIC COSMIC
19g.7120669C>GCA403669420INSRc.3610G>C (p.Ala1204Pro)
c.3574G>C (p.Ala1192Pro)
n.521G>C
c.3685G>C (p.Ala1229Pro)
c.3649G>C (p.Ala1217Pro)
c.3607G>C (p.Ala1203Pro)
c.3571G>C (p.Ala1191Pro)
19g.7120669C>TCA403669421INSRc.3610G>A (p.Ala1204Thr)
c.3574G>A (p.Ala1192Thr)
n.521G>A
c.3685G>A (p.Ala1229Thr)
c.3649G>A (p.Ala1217Thr)
c.3607G>A (p.Ala1203Thr)
c.3571G>A (p.Ala1191Thr)
COSMIC COSMIC
19g.7120670C>ACA403669422INSRc.3609G>T (p.Met1203Ile)
c.3573G>T (p.Met1191Ile)
n.520G>T
c.3684G>T (p.Met1228Ile)
c.3648G>T (p.Met1216Ile)
c.3606G>T (p.Met1202Ile)
c.3570G>T (p.Met1190Ile)
19g.7120670C>GCA403669424INSRc.3609G>C (p.Met1203Ile)
c.3573G>C (p.Met1191Ile)
n.520G>C
c.3684G>C (p.Met1228Ile)
c.3648G>C (p.Met1216Ile)
c.3606G>C (p.Met1202Ile)
c.3570G>C (p.Met1190Ile)
19g.7120670C>TCA403669423INSRc.3609G>A (p.Met1203Ile)
c.3573G>A (p.Met1191Ile)
n.520G>A
c.3684G>A (p.Met1228Ile)
c.3648G>A (p.Met1216Ile)
c.3606G>A (p.Met1202Ile)
c.3570G>A (p.Met1190Ile)
gnomAD v4
19g.7120671A>CCA403669425INSRc.3608T>G (p.Met1203Arg)
c.3572T>G (p.Met1191Arg)
n.519T>G
c.3683T>G (p.Met1228Arg)
c.3647T>G (p.Met1216Arg)
c.3605T>G (p.Met1202Arg)
c.3569T>G (p.Met1190Arg)
19g.7120671A>GCA403669426INSRc.3608T>C (p.Met1203Thr)
c.3572T>C (p.Met1191Thr)
n.519T>C
c.3683T>C (p.Met1228Thr)
c.3647T>C (p.Met1216Thr)
c.3605T>C (p.Met1202Thr)
c.3569T>C (p.Met1190Thr)
19g.7120671A>TCA403669427INSRc.3608T>A (p.Met1203Lys)
c.3572T>A (p.Met1191Lys)
n.519T>A
c.3683T>A (p.Met1228Lys)
c.3647T>A (p.Met1216Lys)
c.3605T>A (p.Met1202Lys)
c.3569T>A (p.Met1190Lys)
19g.7120672T>ACA403669428INSRc.3607A>T (p.Met1203Leu)
c.3571A>T (p.Met1191Leu)
n.518A>T
c.3682A>T (p.Met1228Leu)
c.3646A>T (p.Met1216Leu)
c.3604A>T (p.Met1202Leu)
c.3568A>T (p.Met1190Leu)
19g.7120672T>CCA403669429INSRc.3607A>G (p.Met1203Val)
c.3571A>G (p.Met1191Val)
n.518A>G
c.3682A>G (p.Met1228Val)
c.3646A>G (p.Met1216Val)
c.3604A>G (p.Met1202Val)
c.3568A>G (p.Met1190Val)
19g.7120672T>GCA403669430INSRc.3607A>C (p.Met1203Leu)
c.3571A>C (p.Met1191Leu)
n.518A>C
c.3682A>C (p.Met1228Leu)
c.3646A>C (p.Met1216Leu)
c.3604A>C (p.Met1202Leu)
c.3568A>C (p.Met1190Leu)
19g.7120673C>ACA403669431INSRc.3606G>T (p.Trp1202Cys)
c.3570G>T (p.Trp1190Cys)
n.517G>T
c.3681G>T (p.Trp1227Cys)
c.3645G>T (p.Trp1215Cys)
c.3603G>T (p.Trp1201Cys)
c.3567G>T (p.Trp1189Cys)
19g.7120673C>GCA403669432INSRc.3606G>C (p.Trp1202Cys)
c.3570G>C (p.Trp1190Cys)
n.517G>C
c.3681G>C (p.Trp1227Cys)
c.3645G>C (p.Trp1215Cys)
c.3603G>C (p.Trp1201Cys)
c.3567G>C (p.Trp1189Cys)
19g.7120673C>TCA403669433INSRc.3606G>A (p.Trp1202Ter)
c.3570G>A (p.Trp1190Ter)
n.517G>A
c.3681G>A (p.Trp1227Ter)
c.3645G>A (p.Trp1215Ter)
c.3603G>A (p.Trp1201Ter)
c.3567G>A (p.Trp1189Ter)
19g.7120674C>ACA403669434INSRc.3605G>T (p.Trp1202Leu)
c.3569G>T (p.Trp1190Leu)
n.516G>T
c.3680G>T (p.Trp1227Leu)
c.3644G>T (p.Trp1215Leu)
c.3602G>T (p.Trp1201Leu)
c.3566G>T (p.Trp1189Leu)
19g.7120674C>GCA403669435INSRc.3605G>C (p.Trp1202Ser)
c.3569G>C (p.Trp1190Ser)
n.516G>C
c.3680G>C (p.Trp1227Ser)
c.3644G>C (p.Trp1215Ser)
c.3602G>C (p.Trp1201Ser)
c.3566G>C (p.Trp1189Ser)
19g.7120674C>TCA403669436INSRc.3605G>A (p.Trp1202Ter)
c.3569G>A (p.Trp1190Ter)
n.516G>A
c.3680G>A (p.Trp1227Ter)
c.3644G>A (p.Trp1215Ter)
c.3602G>A (p.Trp1201Ter)
c.3566G>A (p.Trp1189Ter)
gnomAD v4
19g.7120675A>CCA403669438INSRc.3604T>G (p.Trp1202Gly)
c.3568T>G (p.Trp1190Gly)
n.515T>G
c.3679T>G (p.Trp1227Gly)
c.3643T>G (p.Trp1215Gly)
c.3601T>G (p.Trp1201Gly)
c.3565T>G (p.Trp1189Gly)
19g.7120675A>GCA403669439INSRc.3604T>C (p.Trp1202Arg)
c.3568T>C (p.Trp1190Arg)
n.515T>C
c.3679T>C (p.Trp1227Arg)
c.3643T>C (p.Trp1215Arg)
c.3601T>C (p.Trp1201Arg)
c.3565T>C (p.Trp1189Arg)
19g.7120675A>TCA403669437INSRc.3604T>A (p.Trp1202Arg)
c.3568T>A (p.Trp1190Arg)
n.515T>A
c.3679T>A (p.Trp1227Arg)
c.3643T>A (p.Trp1215Arg)
c.3601T>A (p.Trp1201Arg)
c.3565T>A (p.Trp1189Arg)
19g.7120676C>ACA505216667INSRc.3603G>T (p.Arg1201=)
c.3567G>T (p.Arg1189=)
n.514G>T
c.3678G>T (p.Arg1226=)
c.3642G>T (p.Arg1214=)
c.3600G>T (p.Arg1200=)
c.3564G>T (p.Arg1188=)
dbSNP gnomAD v2 gnomAD v4
19g.7120676C=CA2320765522INSRc.3603G= (p.Arg1201=)
c.3567G= (p.Arg1189=)
n.514G=
c.3678G= (p.Arg1226=)
c.3642G= (p.Arg1214=)
c.3600G= (p.Arg1200=)
c.3564G= (p.Arg1188=)
19g.7120676C>GCA505216669INSRc.3603G>C (p.Arg1201=)
c.3567G>C (p.Arg1189=)
n.514G>C
c.3678G>C (p.Arg1226=)
c.3642G>C (p.Arg1214=)
c.3600G>C (p.Arg1200=)
c.3564G>C (p.Arg1188=)
19g.7120676C>TCA505216671INSRc.3603G>A (p.Arg1201=)
c.3567G>A (p.Arg1189=)
n.514G>A
c.3678G>A (p.Arg1226=)
c.3642G>A (p.Arg1214=)
c.3600G>A (p.Arg1200=)
c.3564G>A (p.Arg1188=)
19g.7120677C>ACA403669441INSRc.3602G>T (p.Arg1201Leu)
c.3566G>T (p.Arg1189Leu)
n.513G>T
c.3677G>T (p.Arg1226Leu)
c.3641G>T (p.Arg1214Leu)
c.3599G>T (p.Arg1200Leu)
c.3563G>T (p.Arg1188Leu)
19g.7120677C=CA2320765523INSRc.3602G= (p.Arg1201=)
c.3566G= (p.Arg1189=)
n.513G=
c.3677G= (p.Arg1226=)
c.3641G= (p.Arg1214=)
c.3599G= (p.Arg1200=)
c.3563G= (p.Arg1188=)
19g.7120677C>GCA403669440INSRc.3602G>C (p.Arg1201Pro)
c.3566G>C (p.Arg1189Pro)
n.513G>C
c.3677G>C (p.Arg1226Pro)
c.3641G>C (p.Arg1214Pro)
c.3599G>C (p.Arg1200Pro)
c.3563G>C (p.Arg1188Pro)
19g.7120677C>TCA124264INSRc.3602G>A (p.Arg1201Gln)
c.3566G>A (p.Arg1189Gln)
n.513G>A
c.3677G>A (p.Arg1226Gln)
c.3641G>A (p.Arg1214Gln)
c.3599G>A (p.Arg1200Gln)
c.3563G>A (p.Arg1188Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.7120678G>ACA403669442INSRc.3601C>T (p.Arg1201Trp)
c.3565C>T (p.Arg1189Trp)
n.512C>T
c.3676C>T (p.Arg1226Trp)
c.3640C>T (p.Arg1214Trp)
c.3598C>T (p.Arg1200Trp)
c.3562C>T (p.Arg1188Trp)
ClinVar dbSNP gnomAD v4
19g.7120678G>CCA403669443INSRc.3601C>G (p.Arg1201Gly)
c.3565C>G (p.Arg1189Gly)
n.512C>G
c.3676C>G (p.Arg1226Gly)
c.3640C>G (p.Arg1214Gly)
c.3598C>G (p.Arg1200Gly)
c.3562C>G (p.Arg1188Gly)
19g.7120678G=CA2320765524INSRc.3601C= (p.Arg1201=)
c.3565C= (p.Arg1189=)
n.512C=
c.3676C= (p.Arg1226=)
c.3640C= (p.Arg1214=)
c.3598C= (p.Arg1200=)
c.3562C= (p.Arg1188=)
19g.7120678G>TCA505216672INSRc.3601C>A (p.Arg1201=)
c.3565C>A (p.Arg1189=)
n.512C>A
c.3676C>A (p.Arg1226=)
c.3640C>A (p.Arg1214=)
c.3598C>A (p.Arg1200=)
c.3562C>A (p.Arg1188=)
gnomAD v4
19g.7120679T>ACA505216675INSRc.3600A>T (p.Val1200=)
c.3564A>T (p.Val1188=)
n.511A>T
c.3675A>T (p.Val1225=)
c.3639A>T (p.Val1213=)
c.3597A>T (p.Val1199=)
c.3561A>T (p.Val1187=)
19g.7120679T>CCA505216674INSRc.3600A>G (p.Val1200=)
c.3564A>G (p.Val1188=)
n.511A>G
c.3675A>G (p.Val1225=)
c.3639A>G (p.Val1213=)
c.3597A>G (p.Val1199=)
c.3561A>G (p.Val1187=)
gnomAD v3 gnomAD v4
19g.7120679T>GCA505216673INSRc.3600A>C (p.Val1200=)
c.3564A>C (p.Val1188=)
n.511A>C
c.3675A>C (p.Val1225=)
c.3639A>C (p.Val1213=)
c.3597A>C (p.Val1199=)
c.3561A>C (p.Val1187=)
19g.7120680A=CA2320765525INSRc.3599T= (p.Val1200=)
c.3563T= (p.Val1188=)
n.510T=
c.3674T= (p.Val1225=)
c.3638T= (p.Val1213=)
c.3596T= (p.Val1199=)
c.3560T= (p.Val1187=)
19g.7120680A>CCA403669444INSRc.3599T>G (p.Val1200Gly)
c.3563T>G (p.Val1188Gly)
n.510T>G
c.3674T>G (p.Val1225Gly)
c.3638T>G (p.Val1213Gly)
c.3596T>G (p.Val1199Gly)
c.3560T>G (p.Val1187Gly)
19g.7120680A>GCA403669445INSRc.3599T>C (p.Val1200Ala)
c.3563T>C (p.Val1188Ala)
n.510T>C
c.3674T>C (p.Val1225Ala)
c.3638T>C (p.Val1213Ala)
c.3596T>C (p.Val1199Ala)
c.3560T>C (p.Val1187Ala)
dbSNP
19g.7120680A>TCA403669446INSRc.3599T>A (p.Val1200Glu)
c.3563T>A (p.Val1188Glu)
n.510T>A
c.3674T>A (p.Val1225Glu)
c.3638T>A (p.Val1213Glu)
c.3596T>A (p.Val1199Glu)
c.3560T>A (p.Val1187Glu)
19g.7120681C>ACA403669447INSRc.3598G>T (p.Val1200Leu)
c.3562G>T (p.Val1188Leu)
n.509G>T
c.3673G>T (p.Val1225Leu)
c.3637G>T (p.Val1213Leu)
c.3595G>T (p.Val1199Leu)
c.3559G>T (p.Val1187Leu)
19g.7120681C>GCA403669448INSRc.3598G>C (p.Val1200Leu)
c.3562G>C (p.Val1188Leu)
n.509G>C
c.3673G>C (p.Val1225Leu)
c.3637G>C (p.Val1213Leu)
c.3595G>C (p.Val1199Leu)
c.3559G>C (p.Val1187Leu)
19g.7120681C>TCA403669449INSRc.3598G>A (p.Val1200Ile)
c.3562G>A (p.Val1188Ile)
n.509G>A
c.3673G>A (p.Val1225Ile)
c.3637G>A (p.Val1213Ile)
c.3595G>A (p.Val1199Ile)
c.3559G>A (p.Val1187Ile)
19g.7120682A=CA2320765526INSRc.3597T= (p.Pro1199=)
c.3561T= (p.Pro1187=)
n.508T=
c.3672T= (p.Pro1224=)
c.3636T= (p.Pro1212=)
c.3594T= (p.Pro1198=)
c.3558T= (p.Pro1186=)
19g.7120682A>CCA505216678INSRc.3597T>G (p.Pro1199=)
c.3561T>G (p.Pro1187=)
n.508T>G
c.3672T>G (p.Pro1224=)
c.3636T>G (p.Pro1212=)
c.3594T>G (p.Pro1198=)
c.3558T>G (p.Pro1186=)
dbSNP
19g.7120682A>GCA505216679INSRc.3597T>C (p.Pro1199=)
c.3561T>C (p.Pro1187=)
n.508T>C
c.3672T>C (p.Pro1224=)
c.3636T>C (p.Pro1212=)
c.3594T>C (p.Pro1198=)
c.3558T>C (p.Pro1186=)
gnomAD v3 gnomAD v4
19g.7120682A>TCA505216681INSRc.3597T>A (p.Pro1199=)
c.3561T>A (p.Pro1187=)
n.508T>A
c.3672T>A (p.Pro1224=)
c.3636T>A (p.Pro1212=)
c.3594T>A (p.Pro1198=)
c.3558T>A (p.Pro1186=)
19g.7120683G>ACA403669450INSRc.3596C>T (p.Pro1199Leu)
c.3560C>T (p.Pro1187Leu)
n.507C>T
c.3671C>T (p.Pro1224Leu)
c.3635C>T (p.Pro1212Leu)
c.3593C>T (p.Pro1198Leu)
c.3557C>T (p.Pro1186Leu)
19g.7120683G>CCA403669451INSRc.3596C>G (p.Pro1199Arg)
c.3560C>G (p.Pro1187Arg)
n.507C>G
c.3671C>G (p.Pro1224Arg)
c.3635C>G (p.Pro1212Arg)
c.3593C>G (p.Pro1198Arg)
c.3557C>G (p.Pro1186Arg)
19g.7120683G>TCA403669452INSRc.3596C>A (p.Pro1199His)
c.3560C>A (p.Pro1187His)
n.507C>A
c.3671C>A (p.Pro1224His)
c.3635C>A (p.Pro1212His)
c.3593C>A (p.Pro1198His)
c.3557C>A (p.Pro1186His)
19g.7120684G>ACA403669455INSRc.3595C>T (p.Pro1199Ser)
c.3559C>T (p.Pro1187Ser)
n.506C>T
c.3670C>T (p.Pro1224Ser)
c.3634C>T (p.Pro1212Ser)
c.3592C>T (p.Pro1198Ser)
c.3556C>T (p.Pro1186Ser)
19g.7120684G>CCA403669453INSRc.3595C>G (p.Pro1199Ala)
c.3559C>G (p.Pro1187Ala)
n.506C>G
c.3670C>G (p.Pro1224Ala)
c.3634C>G (p.Pro1212Ala)
c.3592C>G (p.Pro1198Ala)
c.3556C>G (p.Pro1186Ala)
19g.7120684G>TCA403669454INSRc.3595C>A (p.Pro1199Thr)
c.3559C>A (p.Pro1187Thr)
n.506C>A
c.3670C>A (p.Pro1224Thr)
c.3634C>A (p.Pro1212Thr)
c.3592C>A (p.Pro1198Thr)
c.3556C>A (p.Pro1186Thr)
19g.7120685G>ACA505216682INSRc.3594C>T (p.Leu1198=)
c.3558C>T (p.Leu1186=)
n.505C>T
c.3669C>T (p.Leu1223=)
c.3633C>T (p.Leu1211=)
c.3591C>T (p.Leu1197=)
c.3555C>T (p.Leu1185=)
19g.7120685G>CCA505216683INSRc.3594C>G (p.Leu1198=)
c.3558C>G (p.Leu1186=)
n.505C>G
c.3669C>G (p.Leu1223=)
c.3633C>G (p.Leu1211=)
c.3591C>G (p.Leu1197=)
c.3555C>G (p.Leu1185=)
dbSNP
19g.7120685G=CA2320765527INSRc.3594C= (p.Leu1198=)
c.3558C= (p.Leu1186=)
n.505C=
c.3669C= (p.Leu1223=)
c.3633C= (p.Leu1211=)
c.3591C= (p.Leu1197=)
c.3555C= (p.Leu1185=)
19g.7120685G>TCA505216684INSRc.3594C>A (p.Leu1198=)
c.3558C>A (p.Leu1186=)
n.505C>A
c.3669C>A (p.Leu1223=)
c.3633C>A (p.Leu1211=)
c.3591C>A (p.Leu1197=)
c.3555C>A (p.Leu1185=)
19g.7120686A>CCA403669456INSRc.3593T>G (p.Leu1198Arg)
c.3557T>G (p.Leu1186Arg)
n.504T>G
c.3668T>G (p.Leu1223Arg)
c.3632T>G (p.Leu1211Arg)
c.3590T>G (p.Leu1197Arg)
c.3554T>G (p.Leu1185Arg)
19g.7120686A>GCA403669457INSRc.3593T>C (p.Leu1198Pro)
c.3557T>C (p.Leu1186Pro)
n.504T>C
c.3668T>C (p.Leu1223Pro)
c.3632T>C (p.Leu1211Pro)
c.3590T>C (p.Leu1197Pro)
c.3554T>C (p.Leu1185Pro)
19g.7120686A>TCA403669458INSRc.3593T>A (p.Leu1198His)
c.3557T>A (p.Leu1186His)
n.504T>A
c.3668T>A (p.Leu1223His)
c.3632T>A (p.Leu1211His)
c.3590T>A (p.Leu1197His)
c.3554T>A (p.Leu1185His)
19g.7120687G>ACA403669459INSRc.3592C>T (p.Leu1198Phe)
c.3556C>T (p.Leu1186Phe)
n.503C>T
c.3667C>T (p.Leu1223Phe)
c.3631C>T (p.Leu1211Phe)
c.3589C>T (p.Leu1197Phe)
c.3553C>T (p.Leu1185Phe)
gnomAD v4
19g.7120687G>CCA403669460INSRc.3592C>G (p.Leu1198Val)
c.3556C>G (p.Leu1186Val)
n.503C>G
c.3667C>G (p.Leu1223Val)
c.3631C>G (p.Leu1211Val)
c.3589C>G (p.Leu1197Val)
c.3553C>G (p.Leu1185Val)
19g.7120687G>TCA403669461INSRc.3592C>A (p.Leu1198Ile)
c.3556C>A (p.Leu1186Ile)
n.503C>A
c.3667C>A (p.Leu1223Ile)
c.3631C>A (p.Leu1211Ile)
c.3589C>A (p.Leu1197Ile)
c.3553C>A (p.Leu1185Ile)
19g.7120688C>ACA505216686INSRc.3591G>T (p.Leu1197=)
c.3555G>T (p.Leu1185=)
n.502G>T
c.3666G>T (p.Leu1222=)
c.3630G>T (p.Leu1210=)
c.3588G>T (p.Leu1196=)
c.3552G>T (p.Leu1184=)
19g.7120688C=CA2320765528INSRc.3591G= (p.Leu1197=)
c.3555G= (p.Leu1185=)
n.502G=
c.3666G= (p.Leu1222=)
c.3630G= (p.Leu1210=)
c.3588G= (p.Leu1196=)
c.3552G= (p.Leu1184=)
19g.7120688C>GCA9135210INSRc.3591G>C (p.Leu1197=)
c.3555G>C (p.Leu1185=)
n.502G>C
c.3666G>C (p.Leu1222=)
c.3630G>C (p.Leu1210=)
c.3588G>C (p.Leu1196=)
c.3552G>C (p.Leu1184=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7120688C>TCA505216687INSRc.3591G>A (p.Leu1197=)
c.3555G>A (p.Leu1185=)
n.502G>A
c.3666G>A (p.Leu1222=)
c.3630G>A (p.Leu1210=)
c.3588G>A (p.Leu1196=)
c.3552G>A (p.Leu1184=)
19g.7120689A>CCA403669462INSRc.3590T>G (p.Leu1197Arg)
c.3554T>G (p.Leu1185Arg)
n.501T>G
c.3665T>G (p.Leu1222Arg)
c.3629T>G (p.Leu1210Arg)
c.3587T>G (p.Leu1196Arg)
c.3551T>G (p.Leu1184Arg)
19g.7120689A>GCA403669463INSRc.3590T>C (p.Leu1197Pro)
c.3554T>C (p.Leu1185Pro)
n.501T>C
c.3665T>C (p.Leu1222Pro)
c.3629T>C (p.Leu1210Pro)
c.3587T>C (p.Leu1196Pro)
c.3551T>C (p.Leu1184Pro)
19g.7120689A>TCA403669464INSRc.3590T>A (p.Leu1197Gln)
c.3554T>A (p.Leu1185Gln)
n.501T>A
c.3665T>A (p.Leu1222Gln)
c.3629T>A (p.Leu1210Gln)
c.3587T>A (p.Leu1196Gln)
c.3551T>A (p.Leu1184Gln)
19g.7120690G>ACA505216688INSRc.3589C>T (p.Leu1197=)
c.3553C>T (p.Leu1185=)
n.500C>T
c.3664C>T (p.Leu1222=)
c.3628C>T (p.Leu1210=)
c.3586C>T (p.Leu1196=)
c.3550C>T (p.Leu1184=)
19g.7120690G>CCA403669465INSRc.3589C>G (p.Leu1197Val)
c.3553C>G (p.Leu1185Val)
n.500C>G
c.3664C>G (p.Leu1222Val)
c.3628C>G (p.Leu1210Val)
c.3586C>G (p.Leu1196Val)
c.3550C>G (p.Leu1184Val)
19g.7120690G>TCA403669466INSRc.3589C>A (p.Leu1197Met)
c.3553C>A (p.Leu1185Met)
n.500C>A
c.3664C>A (p.Leu1222Met)
c.3628C>A (p.Leu1210Met)
c.3586C>A (p.Leu1196Met)
c.3550C>A (p.Leu1184Met)
19g.7120691A>CCA505216692INSRc.3588T>G (p.Gly1196=)
c.3552T>G (p.Gly1184=)
n.499T>G
c.3663T>G (p.Gly1221=)
c.3627T>G (p.Gly1209=)
c.3585T>G (p.Gly1195=)
c.3549T>G (p.Gly1183=)
19g.7120691A>GCA505216691INSRc.3588T>C (p.Gly1196=)
c.3552T>C (p.Gly1184=)
n.499T>C
c.3663T>C (p.Gly1221=)
c.3627T>C (p.Gly1209=)
c.3585T>C (p.Gly1195=)
c.3549T>C (p.Gly1183=)
gnomAD v4
19g.7120691A>TCA505216690INSRc.3588T>A (p.Gly1196=)
c.3552T>A (p.Gly1184=)
n.499T>A
c.3663T>A (p.Gly1221=)
c.3627T>A (p.Gly1209=)
c.3585T>A (p.Gly1195=)
c.3549T>A (p.Gly1183=)
19g.7120692C>ACA403669469INSRc.3587G>T (p.Gly1196Val)
c.3551G>T (p.Gly1184Val)
n.498G>T
c.3662G>T (p.Gly1221Val)
c.3626G>T (p.Gly1209Val)
c.3584G>T (p.Gly1195Val)
c.3548G>T (p.Gly1183Val)
gnomAD v4
19g.7120692C>GCA403669468INSRc.3587G>C (p.Gly1196Ala)
c.3551G>C (p.Gly1184Ala)
n.498G>C
c.3662G>C (p.Gly1221Ala)
c.3626G>C (p.Gly1209Ala)
c.3584G>C (p.Gly1195Ala)
c.3548G>C (p.Gly1183Ala)
19g.7120692C>TCA403669467INSRc.3587G>A (p.Gly1196Asp)
c.3551G>A (p.Gly1184Asp)
n.498G>A
c.3662G>A (p.Gly1221Asp)
c.3626G>A (p.Gly1209Asp)
c.3584G>A (p.Gly1195Asp)
c.3548G>A (p.Gly1183Asp)
19g.7120693C>ACA403669470INSRc.3586G>T (p.Gly1196Cys)
c.3550G>T (p.Gly1184Cys)
n.497G>T
c.3661G>T (p.Gly1221Cys)
c.3625G>T (p.Gly1209Cys)
c.3583G>T (p.Gly1195Cys)
c.3547G>T (p.Gly1183Cys)
19g.7120693C>GCA403669471INSRc.3586G>C (p.Gly1196Arg)
c.3550G>C (p.Gly1184Arg)
n.497G>C
c.3661G>C (p.Gly1221Arg)
c.3625G>C (p.Gly1209Arg)
c.3583G>C (p.Gly1195Arg)
c.3547G>C (p.Gly1183Arg)
19g.7120693C>TCA403669472INSRc.3586G>A (p.Gly1196Ser)
c.3550G>A (p.Gly1184Ser)
n.497G>A
c.3661G>A (p.Gly1221Ser)
c.3625G>A (p.Gly1209Ser)
c.3583G>A (p.Gly1195Ser)
c.3547G>A (p.Gly1183Ser)
19g.7120694C>ACA403669473INSRc.3585G>T (p.Lys1195Asn)
c.3549G>T (p.Lys1183Asn)
n.496G>T
c.3660G>T (p.Lys1220Asn)
c.3624G>T (p.Lys1208Asn)
c.3582G>T (p.Lys1194Asn)
c.3546G>T (p.Lys1182Asn)
gnomAD v4
19g.7120694C>GCA403669474INSRc.3585G>C (p.Lys1195Asn)
c.3549G>C (p.Lys1183Asn)
n.496G>C
c.3660G>C (p.Lys1220Asn)
c.3624G>C (p.Lys1208Asn)
c.3582G>C (p.Lys1194Asn)
c.3546G>C (p.Lys1182Asn)
gnomAD v4
19g.7120694C>TCA505216693INSRc.3585G>A (p.Lys1195=)
c.3549G>A (p.Lys1183=)
n.496G>A
c.3660G>A (p.Lys1220=)
c.3624G>A (p.Lys1208=)
c.3582G>A (p.Lys1194=)
c.3546G>A (p.Lys1182=)
19g.7120695T>ACA403669475INSRc.3584A>T (p.Lys1195Met)
c.3548A>T (p.Lys1183Met)
n.495A>T
c.3659A>T (p.Lys1220Met)
c.3623A>T (p.Lys1208Met)
c.3581A>T (p.Lys1194Met)
c.3545A>T (p.Lys1182Met)
19g.7120695T>CCA403669476INSRc.3584A>G (p.Lys1195Arg)
c.3548A>G (p.Lys1183Arg)
n.495A>G
c.3659A>G (p.Lys1220Arg)
c.3623A>G (p.Lys1208Arg)
c.3581A>G (p.Lys1194Arg)
c.3545A>G (p.Lys1182Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7120695T>GCA403669477INSRc.3584A>C (p.Lys1195Thr)
c.3548A>C (p.Lys1183Thr)
n.495A>C
c.3659A>C (p.Lys1220Thr)
c.3623A>C (p.Lys1208Thr)
c.3581A>C (p.Lys1194Thr)
c.3545A>C (p.Lys1182Thr)
19g.7120695T=CA2320765529INSRc.3584A= (p.Lys1195=)
c.3548A= (p.Lys1183=)
n.495A=
c.3659A= (p.Lys1220=)
c.3623A= (p.Lys1208=)
c.3581A= (p.Lys1194=)
c.3545A= (p.Lys1182=)
19g.7120696T>ACA403669478INSRc.3583A>T (p.Lys1195Ter)
c.3547A>T (p.Lys1183Ter)
n.494A>T
c.3658A>T (p.Lys1220Ter)
c.3622A>T (p.Lys1208Ter)
c.3580A>T (p.Lys1194Ter)
c.3544A>T (p.Lys1182Ter)
19g.7120696T>CCA403669480INSRc.3583A>G (p.Lys1195Glu)
c.3547A>G (p.Lys1183Glu)
n.494A>G
c.3658A>G (p.Lys1220Glu)
c.3622A>G (p.Lys1208Glu)
c.3580A>G (p.Lys1194Glu)
c.3544A>G (p.Lys1182Glu)
19g.7120696T>GCA403669479INSRc.3583A>C (p.Lys1195Gln)
c.3547A>C (p.Lys1183Gln)
n.494A>C
c.3658A>C (p.Lys1220Gln)
c.3622A>C (p.Lys1208Gln)
c.3580A>C (p.Lys1194Gln)
c.3544A>C (p.Lys1182Gln)
19g.7120697G>ACA304869644INSRc.3582C>T (p.Gly1194=)
c.3546C>T (p.Gly1182=)
n.493C>T
c.3657C>T (p.Gly1219=)
c.3621C>T (p.Gly1207=)
c.3579C>T (p.Gly1193=)
c.3543C>T (p.Gly1181=)
dbSNP gnomAD v4
19g.7120697G>CCA505216694INSRc.3582C>G (p.Gly1194=)
c.3546C>G (p.Gly1182=)
n.493C>G
c.3657C>G (p.Gly1219=)
c.3621C>G (p.Gly1207=)
c.3579C>G (p.Gly1193=)
c.3543C>G (p.Gly1181=)
19g.7120697G=CA2320765531INSRc.3582C= (p.Gly1194=)
c.3546C= (p.Gly1182=)
n.493C=
c.3657C= (p.Gly1219=)
c.3621C= (p.Gly1207=)
c.3579C= (p.Gly1193=)
c.3543C= (p.Gly1181=)
19g.7120697G>TCA9135211INSRc.3582C>A (p.Gly1194=)
c.3546C>A (p.Gly1182=)
n.493C>A
c.3657C>A (p.Gly1219=)
c.3621C>A (p.Gly1207=)
c.3579C>A (p.Gly1193=)
c.3543C>A (p.Gly1181=)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.7120697_7120698delinsGCCA2320765530INSRc.3581_3582delinsGC (p.Gly1194=)
c.3545_3546delinsGC (p.Gly1182=)
n.492_493delinsGC
c.3656_3657delinsGC (p.Gly1219=)
c.3620_3621delinsGC (p.Gly1207=)
c.3578_3579delinsGC (p.Gly1193=)
c.3542_3543delinsGC (p.Gly1181=)
19g.7120698C>ACA403669481INSRc.3581G>T (p.Gly1194Val)
c.3545G>T (p.Gly1182Val)
n.492G>T
c.3656G>T (p.Gly1219Val)
c.3620G>T (p.Gly1207Val)
c.3578G>T (p.Gly1193Val)
c.3542G>T (p.Gly1181Val)
19g.7120698C>GCA403669482INSRc.3581G>C (p.Gly1194Ala)
c.3545G>C (p.Gly1182Ala)
n.492G>C
c.3656G>C (p.Gly1219Ala)
c.3620G>C (p.Gly1207Ala)
c.3578G>C (p.Gly1193Ala)
c.3542G>C (p.Gly1181Ala)
19g.7120698C>TCA403669483INSRc.3581G>A (p.Gly1194Asp)
c.3545G>A (p.Gly1182Asp)
n.492G>A
c.3656G>A (p.Gly1219Asp)
c.3620G>A (p.Gly1207Asp)
c.3578G>A (p.Gly1193Asp)
c.3542G>A (p.Gly1181Asp)
19g.7120702dupCA2813450037INSRc.3581dup (p.Lys1195GlnfsTer24)
c.3545dup (p.Lys1183GlnfsTer24)
n.492dup
c.3656dup (p.Lys1220GlnfsTer24)
c.3620dup (p.Lys1208GlnfsTer24)
c.3578dup (p.Lys1194GlnfsTer24)
c.3542dup (p.Lys1182GlnfsTer24)
19g.7120702delCA920049108INSRc.3581del (p.Gly1194AlafsTer15)
c.3545del (p.Gly1182AlafsTer15)
n.492del
c.3656del (p.Gly1219AlafsTer15)
c.3620del (p.Gly1207AlafsTer15)
c.3578del (p.Gly1193AlafsTer15)
c.3542del (p.Gly1181AlafsTer15)
dbSNP
19g.7120699C>ACA403669484INSRc.3580G>T (p.Gly1194Cys)
c.3544G>T (p.Gly1182Cys)
n.491G>T
c.3655G>T (p.Gly1219Cys)
c.3619G>T (p.Gly1207Cys)
c.3577G>T (p.Gly1193Cys)
c.3541G>T (p.Gly1181Cys)
dbSNP gnomAD v3 gnomAD v4
19g.7120699C=CA2320765532INSRc.3580G= (p.Gly1194=)
c.3544G= (p.Gly1182=)
n.491G=
c.3655G= (p.Gly1219=)
c.3619G= (p.Gly1207=)
c.3577G= (p.Gly1193=)
c.3541G= (p.Gly1181=)
19g.7120699C>GCA403669486INSRc.3580G>C (p.Gly1194Arg)
c.3544G>C (p.Gly1182Arg)
n.491G>C
c.3655G>C (p.Gly1219Arg)
c.3619G>C (p.Gly1207Arg)
c.3577G>C (p.Gly1193Arg)
c.3541G>C (p.Gly1181Arg)
19g.7120699C>TCA403669485INSRc.3580G>A (p.Gly1194Ser)
c.3544G>A (p.Gly1182Ser)
n.491G>A
c.3655G>A (p.Gly1219Ser)
c.3619G>A (p.Gly1207Ser)
c.3577G>A (p.Gly1193Ser)
c.3541G>A (p.Gly1181Ser)
dbSNP gnomAD v4
19g.7120700C>ACA505216698INSRc.3579G>T (p.Gly1193=)
c.3543G>T (p.Gly1181=)
n.490G>T
c.3654G>T (p.Gly1218=)
c.3618G>T (p.Gly1206=)
c.3576G>T (p.Gly1192=)
c.3540G>T (p.Gly1180=)
19g.7120700C=CA2320765533INSRc.3579G= (p.Gly1193=)
c.3543G= (p.Gly1181=)
n.490G=
c.3654G= (p.Gly1218=)
c.3618G= (p.Gly1206=)
c.3576G= (p.Gly1192=)
c.3540G= (p.Gly1180=)
19g.7120700C>GCA505216699INSRc.3579G>C (p.Gly1193=)
c.3543G>C (p.Gly1181=)
n.490G>C
c.3654G>C (p.Gly1218=)
c.3618G>C (p.Gly1206=)
c.3576G>C (p.Gly1192=)
c.3540G>C (p.Gly1180=)
19g.7120700C>TCA9135212INSRc.3579G>A (p.Gly1193=)
c.3543G>A (p.Gly1181=)
n.490G>A
c.3654G>A (p.Gly1218=)
c.3618G>A (p.Gly1206=)
c.3576G>A (p.Gly1192=)
c.3540G>A (p.Gly1180=)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.7120701C>ACA403669487INSRc.3578G>T (p.Gly1193Val)
c.3542G>T (p.Gly1181Val)
n.489G>T
c.3653G>T (p.Gly1218Val)
c.3617G>T (p.Gly1206Val)
c.3575G>T (p.Gly1192Val)
c.3539G>T (p.Gly1180Val)
19g.7120701C=CA2320765534INSRc.3578G= (p.Gly1193=)
c.3542G= (p.Gly1181=)
n.489G=
c.3653G= (p.Gly1218=)
c.3617G= (p.Gly1206=)
c.3575G= (p.Gly1192=)
c.3539G= (p.Gly1180=)
19g.7120701C>GCA403669488INSRc.3578G>C (p.Gly1193Ala)
c.3542G>C (p.Gly1181Ala)
n.489G>C
c.3653G>C (p.Gly1218Ala)
c.3617G>C (p.Gly1206Ala)
c.3575G>C (p.Gly1192Ala)
c.3539G>C (p.Gly1180Ala)
dbSNP
19g.7120701C>TCA403669489INSRc.3578G>A (p.Gly1193Glu)
c.3542G>A (p.Gly1181Glu)
n.489G>A
c.3653G>A (p.Gly1218Glu)
c.3617G>A (p.Gly1206Glu)
c.3575G>A (p.Gly1192Glu)
c.3539G>A (p.Gly1180Glu)
19g.7120702C>ACA403669490INSRc.3577G>T (p.Gly1193Trp)
c.3541G>T (p.Gly1181Trp)
n.488G>T
c.3652G>T (p.Gly1218Trp)
c.3616G>T (p.Gly1206Trp)
c.3574G>T (p.Gly1192Trp)
c.3538G>T (p.Gly1180Trp)
dbSNP gnomAD v4
19g.7120702C=CA2320765535INSRc.3577G= (p.Gly1193=)
c.3541G= (p.Gly1181=)
n.488G=
c.3652G= (p.Gly1218=)
c.3616G= (p.Gly1206=)
c.3574G= (p.Gly1192=)
c.3538G= (p.Gly1180=)
19g.7120702C>GCA403669491INSRc.3577G>C (p.Gly1193Arg)
c.3541G>C (p.Gly1181Arg)
n.488G>C
c.3652G>C (p.Gly1218Arg)
c.3616G>C (p.Gly1206Arg)
c.3574G>C (p.Gly1192Arg)
c.3538G>C (p.Gly1180Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7120702C>TCA403669492INSRc.3577G>A (p.Gly1193Arg)
c.3541G>A (p.Gly1181Arg)
n.488G>A
c.3652G>A (p.Gly1218Arg)
c.3616G>A (p.Gly1206Arg)
c.3574G>A (p.Gly1192Arg)
c.3538G>A (p.Gly1180Arg)
19g.7120703T>ACA403669493INSRc.3576A>T (p.Lys1192Asn)
c.3540A>T (p.Lys1180Asn)
n.487A>T
c.3651A>T (p.Lys1217Asn)
c.3615A>T (p.Lys1205Asn)
c.3573A>T (p.Lys1191Asn)
c.3537A>T (p.Lys1179Asn)
19g.7120703T>CCA505216700INSRc.3576A>G (p.Lys1192=)
c.3540A>G (p.Lys1180=)
n.487A>G
c.3651A>G (p.Lys1217=)
c.3615A>G (p.Lys1205=)
c.3573A>G (p.Lys1191=)
c.3537A>G (p.Lys1179=)
19g.7120703T>GCA403669494INSRc.3576A>C (p.Lys1192Asn)
c.3540A>C (p.Lys1180Asn)
n.487A>C
c.3651A>C (p.Lys1217Asn)
c.3615A>C (p.Lys1205Asn)
c.3573A>C (p.Lys1191Asn)
c.3537A>C (p.Lys1179Asn)
19g.7120704T>ACA403669495INSRc.3575A>T (p.Lys1192Ile)
c.3539A>T (p.Lys1180Ile)
n.486A>T
c.3650A>T (p.Lys1217Ile)
c.3614A>T (p.Lys1205Ile)
c.3572A>T (p.Lys1191Ile)
c.3536A>T (p.Lys1179Ile)
19g.7120704T>CCA403669496INSRc.3575A>G (p.Lys1192Arg)
c.3539A>G (p.Lys1180Arg)
n.486A>G
c.3650A>G (p.Lys1217Arg)
c.3614A>G (p.Lys1205Arg)
c.3572A>G (p.Lys1191Arg)
c.3536A>G (p.Lys1179Arg)
19g.7120704T>GCA403669497INSRc.3575A>C (p.Lys1192Thr)
c.3539A>C (p.Lys1180Thr)
n.486A>C
c.3650A>C (p.Lys1217Thr)
c.3614A>C (p.Lys1205Thr)
c.3572A>C (p.Lys1191Thr)
c.3536A>C (p.Lys1179Thr)
19g.7120705T>ACA403669498INSRc.3574A>T (p.Lys1192Ter)
c.3538A>T (p.Lys1180Ter)
n.485A>T
c.3649A>T (p.Lys1217Ter)
c.3613A>T (p.Lys1205Ter)
c.3571A>T (p.Lys1191Ter)
c.3535A>T (p.Lys1179Ter)
19g.7120705T>CCA403669499INSRc.3574A>G (p.Lys1192Glu)
c.3538A>G (p.Lys1180Glu)
n.485A>G
c.3649A>G (p.Lys1217Glu)
c.3613A>G (p.Lys1205Glu)
c.3571A>G (p.Lys1191Glu)
c.3535A>G (p.Lys1179Glu)
19g.7120705T>GCA304869652INSRc.3574A>C (p.Lys1192Gln)
c.3538A>C (p.Lys1180Gln)
n.485A>C
c.3649A>C (p.Lys1217Gln)
c.3613A>C (p.Lys1205Gln)
c.3571A>C (p.Lys1191Gln)
c.3535A>C (p.Lys1179Gln)
dbSNP
19g.7120705T=CA2320765536INSRc.3574A= (p.Lys1192=)
c.3538A= (p.Lys1180=)
n.485A=
c.3649A= (p.Lys1217=)
c.3613A= (p.Lys1205=)
c.3571A= (p.Lys1191=)
c.3535A= (p.Lys1179=)
19g.7120706C>ACA505216704INSRc.3573G>T (p.Arg1191=)
c.3537G>T (p.Arg1179=)
n.484G>T
c.3648G>T (p.Arg1216=)
c.3612G>T (p.Arg1204=)
c.3570G>T (p.Arg1190=)
c.3534G>T (p.Arg1178=)
19g.7120706C>GCA505216702INSRc.3573G>C (p.Arg1191=)
c.3537G>C (p.Arg1179=)
n.484G>C
c.3648G>C (p.Arg1216=)
c.3612G>C (p.Arg1204=)
c.3570G>C (p.Arg1190=)
c.3534G>C (p.Arg1178=)
19g.7120706C>TCA505216701INSRc.3573G>A (p.Arg1191=)
c.3537G>A (p.Arg1179=)
n.484G>A
c.3648G>A (p.Arg1216=)
c.3612G>A (p.Arg1204=)
c.3570G>A (p.Arg1190=)
c.3534G>A (p.Arg1178=)
19g.7120707C>ACA403669500INSRc.3572G>T (p.Arg1191Leu)
c.3536G>T (p.Arg1179Leu)
n.483G>T
c.3647G>T (p.Arg1216Leu)
c.3611G>T (p.Arg1204Leu)
c.3569G>T (p.Arg1190Leu)
c.3533G>T (p.Arg1178Leu)
19g.7120707C=CA2320765537INSRc.3572G= (p.Arg1191=)
c.3536G= (p.Arg1179=)
n.483G=
c.3647G= (p.Arg1216=)
c.3611G= (p.Arg1204=)
c.3569G= (p.Arg1190=)
c.3533G= (p.Arg1178=)
19g.7120707C>GCA403669501INSRc.3572G>C (p.Arg1191Pro)
c.3536G>C (p.Arg1179Pro)
n.483G>C
c.3647G>C (p.Arg1216Pro)
c.3611G>C (p.Arg1204Pro)
c.3569G>C (p.Arg1190Pro)
c.3533G>C (p.Arg1178Pro)
19g.7120707C>TCA124248INSRc.3572G>A (p.Arg1191Gln)
c.3536G>A (p.Arg1179Gln)
n.483G>A
c.3647G>A (p.Arg1216Gln)
c.3611G>A (p.Arg1204Gln)
c.3569G>A (p.Arg1190Gln)
c.3533G>A (p.Arg1178Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7120708G>ACA10652867INSRc.3571C>T (p.Arg1191Trp)
c.3535C>T (p.Arg1179Trp)
n.482C>T
c.3646C>T (p.Arg1216Trp)
c.3610C>T (p.Arg1204Trp)
c.3568C>T (p.Arg1190Trp)
c.3532C>T (p.Arg1178Trp)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
19g.7120708G>CCA403669502INSRc.3571C>G (p.Arg1191Gly)
c.3535C>G (p.Arg1179Gly)
n.482C>G
c.3646C>G (p.Arg1216Gly)
c.3610C>G (p.Arg1204Gly)
c.3568C>G (p.Arg1190Gly)
c.3532C>G (p.Arg1178Gly)
19g.7120708G=CA2320765538INSRc.3571C= (p.Arg1191=)
c.3535C= (p.Arg1179=)
n.482C=
c.3646C= (p.Arg1216=)
c.3610C= (p.Arg1204=)
c.3568C= (p.Arg1190=)
c.3532C= (p.Arg1178=)
19g.7120708G>TCA505216705INSRc.3571C>A (p.Arg1191=)
c.3535C>A (p.Arg1179=)
n.482C>A
c.3646C>A (p.Arg1216=)
c.3610C>A (p.Arg1204=)
c.3568C>A (p.Arg1190=)
c.3532C>A (p.Arg1178=)
19g.7120709G>ACA505216706INSRc.3570C>T (p.Tyr1190=)
c.3534C>T (p.Tyr1178=)
n.481C>T
c.3645C>T (p.Tyr1215=)
c.3609C>T (p.Tyr1203=)
c.3567C>T (p.Tyr1189=)
c.3531C>T (p.Tyr1177=)
dbSNP
19g.7120709G>CCA403669503INSRc.3570C>G (p.Tyr1190Ter)
c.3534C>G (p.Tyr1178Ter)
n.481C>G
c.3645C>G (p.Tyr1215Ter)
c.3609C>G (p.Tyr1203Ter)
c.3567C>G (p.Tyr1189Ter)
c.3531C>G (p.Tyr1177Ter)
19g.7120709G=CA2320765539INSRc.3570C= (p.Tyr1190=)
c.3534C= (p.Tyr1178=)
n.481C=
c.3645C= (p.Tyr1215=)
c.3609C= (p.Tyr1203=)
c.3567C= (p.Tyr1189=)
c.3531C= (p.Tyr1177=)
19g.7120709G>TCA403669504INSRc.3570C>A (p.Tyr1190Ter)
c.3534C>A (p.Tyr1178Ter)
n.481C>A
c.3645C>A (p.Tyr1215Ter)
c.3609C>A (p.Tyr1203Ter)
c.3567C>A (p.Tyr1189Ter)
c.3531C>A (p.Tyr1177Ter)
19g.7120710T>ACA403669505INSRc.3569A>T (p.Tyr1190Phe)
c.3533A>T (p.Tyr1178Phe)
n.480A>T
c.3644A>T (p.Tyr1215Phe)
c.3608A>T (p.Tyr1203Phe)
c.3566A>T (p.Tyr1189Phe)
c.3530A>T (p.Tyr1177Phe)
19g.7120710T>CCA403669506INSRc.3569A>G (p.Tyr1190Cys)
c.3533A>G (p.Tyr1178Cys)
n.480A>G
c.3644A>G (p.Tyr1215Cys)
c.3608A>G (p.Tyr1203Cys)
c.3566A>G (p.Tyr1189Cys)
c.3530A>G (p.Tyr1177Cys)
gnomAD v4
19g.7120710T>GCA403669507INSRc.3569A>C (p.Tyr1190Ser)
c.3533A>C (p.Tyr1178Ser)
n.480A>C
c.3644A>C (p.Tyr1215Ser)
c.3608A>C (p.Tyr1203Ser)
c.3566A>C (p.Tyr1189Ser)
c.3530A>C (p.Tyr1177Ser)
19g.7120710_7120713delCA2587921434INSRc.3566_3569del (p.Tyr1189SerfsTer19)
c.3530_3533del (p.Tyr1177SerfsTer19)
n.477_480del
c.3641_3644del (p.Tyr1214SerfsTer19)
c.3605_3608del (p.Tyr1202SerfsTer19)
c.3563_3566del (p.Tyr1188SerfsTer19)
c.3527_3530del (p.Tyr1176SerfsTer19)
gnomAD v4
19g.7120711A=CA2320765540INSRc.3568T= (p.Tyr1190=)
c.3532T= (p.Tyr1178=)
n.479T=
c.3643T= (p.Tyr1215=)
c.3607T= (p.Tyr1203=)
c.3565T= (p.Tyr1189=)
c.3529T= (p.Tyr1177=)
19g.7120711A>CCA403669508INSRc.3568T>G (p.Tyr1190Asp)
c.3532T>G (p.Tyr1178Asp)
n.479T>G
c.3643T>G (p.Tyr1215Asp)
c.3607T>G (p.Tyr1203Asp)
c.3565T>G (p.Tyr1189Asp)
c.3529T>G (p.Tyr1177Asp)
19g.7120711A>GCA403669509INSRc.3568T>C (p.Tyr1190His)
c.3532T>C (p.Tyr1178His)
n.479T>C
c.3643T>C (p.Tyr1215His)
c.3607T>C (p.Tyr1203His)
c.3565T>C (p.Tyr1189His)
c.3529T>C (p.Tyr1177His)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7120711A>TCA403669510INSRc.3568T>A (p.Tyr1190Asn)
c.3532T>A (p.Tyr1178Asn)
n.479T>A
c.3643T>A (p.Tyr1215Asn)
c.3607T>A (p.Tyr1203Asn)
c.3565T>A (p.Tyr1189Asn)
c.3529T>A (p.Tyr1177Asn)
19g.7120712G>ACA505216708INSRc.3567C>T (p.Tyr1189=)
c.3531C>T (p.Tyr1177=)
n.478C>T
c.3642C>T (p.Tyr1214=)
c.3606C>T (p.Tyr1202=)
c.3564C>T (p.Tyr1188=)
c.3528C>T (p.Tyr1176=)
19g.7120712G>CCA403669511INSRc.3567C>G (p.Tyr1189Ter)
c.3531C>G (p.Tyr1177Ter)
n.478C>G
c.3642C>G (p.Tyr1214Ter)
c.3606C>G (p.Tyr1202Ter)
c.3564C>G (p.Tyr1188Ter)
c.3528C>G (p.Tyr1176Ter)
19g.7120712G>TCA403669512INSRc.3567C>A (p.Tyr1189Ter)
c.3531C>A (p.Tyr1177Ter)
n.478C>A
c.3642C>A (p.Tyr1214Ter)
c.3606C>A (p.Tyr1202Ter)
c.3564C>A (p.Tyr1188Ter)
c.3528C>A (p.Tyr1176Ter)
19g.7120713T>ACA403669513INSRc.3566A>T (p.Tyr1189Phe)
c.3530A>T (p.Tyr1177Phe)
n.477A>T
c.3641A>T (p.Tyr1214Phe)
c.3605A>T (p.Tyr1202Phe)
c.3563A>T (p.Tyr1188Phe)
c.3527A>T (p.Tyr1176Phe)
19g.7120713T>CCA403669514INSRc.3566A>G (p.Tyr1189Cys)
c.3530A>G (p.Tyr1177Cys)
n.477A>G
c.3641A>G (p.Tyr1214Cys)
c.3605A>G (p.Tyr1202Cys)
c.3563A>G (p.Tyr1188Cys)
c.3527A>G (p.Tyr1176Cys)
gnomAD v4
19g.7120713T>GCA403669515INSRc.3566A>C (p.Tyr1189Ser)
c.3530A>C (p.Tyr1177Ser)
n.477A>C
c.3641A>C (p.Tyr1214Ser)
c.3605A>C (p.Tyr1202Ser)
c.3563A>C (p.Tyr1188Ser)
c.3527A>C (p.Tyr1176Ser)
19g.7120714A>CCA403669518INSRc.3565T>G (p.Tyr1189Asp)
c.3529T>G (p.Tyr1177Asp)
n.476T>G
c.3640T>G (p.Tyr1214Asp)
c.3604T>G (p.Tyr1202Asp)
c.3562T>G (p.Tyr1188Asp)
c.3526T>G (p.Tyr1176Asp)
19g.7120714A>GCA403669516INSRc.3565T>C (p.Tyr1189His)
c.3529T>C (p.Tyr1177His)
n.476T>C
c.3640T>C (p.Tyr1214His)
c.3604T>C (p.Tyr1202His)
c.3562T>C (p.Tyr1188His)
c.3526T>C (p.Tyr1176His)
19g.7120714A>TCA403669517INSRc.3565T>A (p.Tyr1189Asn)
c.3529T>A (p.Tyr1177Asn)
n.476T>A
c.3640T>A (p.Tyr1214Asn)
c.3604T>A (p.Tyr1202Asn)
c.3562T>A (p.Tyr1188Asn)
c.3526T>A (p.Tyr1176Asn)
19g.7120715A>CCA403669519INSRc.3564T>G (p.Asp1188Glu)
c.3528T>G (p.Asp1176Glu)
n.475T>G
c.3639T>G (p.Asp1213Glu)
c.3603T>G (p.Asp1201Glu)
c.3561T>G (p.Asp1187Glu)
c.3525T>G (p.Asp1175Glu)
19g.7120715A>GCA505216709INSRc.3564T>C (p.Asp1188=)
c.3528T>C (p.Asp1176=)
n.475T>C
c.3639T>C (p.Asp1213=)
c.3603T>C (p.Asp1201=)
c.3561T>C (p.Asp1187=)
c.3525T>C (p.Asp1175=)
19g.7120715A>TCA403669520INSRc.3564T>A (p.Asp1188Glu)
c.3528T>A (p.Asp1176Glu)
n.475T>A
c.3639T>A (p.Asp1213Glu)
c.3603T>A (p.Asp1201Glu)
c.3561T>A (p.Asp1187Glu)
c.3525T>A (p.Asp1175Glu)
19g.7120716T>ACA403669521INSRc.3563A>T (p.Asp1188Val)
c.3527A>T (p.Asp1176Val)
n.474A>T
c.3638A>T (p.Asp1213Val)
c.3602A>T (p.Asp1201Val)
c.3560A>T (p.Asp1187Val)
c.3524A>T (p.Asp1175Val)
19g.7120716T>CCA403669522INSRc.3563A>G (p.Asp1188Gly)
c.3527A>G (p.Asp1176Gly)
n.474A>G
c.3638A>G (p.Asp1213Gly)
c.3602A>G (p.Asp1201Gly)
c.3560A>G (p.Asp1187Gly)
c.3524A>G (p.Asp1175Gly)
19g.7120716T>GCA403669523INSRc.3563A>C (p.Asp1188Ala)
c.3527A>C (p.Asp1176Ala)
n.474A>C
c.3638A>C (p.Asp1213Ala)
c.3602A>C (p.Asp1201Ala)
c.3560A>C (p.Asp1187Ala)
c.3524A>C (p.Asp1175Ala)
19g.7120717C>ACA403669524INSRc.3562G>T (p.Asp1188Tyr)
c.3526G>T (p.Asp1176Tyr)
n.473G>T
c.3637G>T (p.Asp1213Tyr)
c.3601G>T (p.Asp1201Tyr)
c.3559G>T (p.Asp1187Tyr)
c.3523G>T (p.Asp1175Tyr)
19g.7120717C>GCA403669525INSRc.3562G>C (p.Asp1188His)
c.3526G>C (p.Asp1176His)
n.473G>C
c.3637G>C (p.Asp1213His)
c.3601G>C (p.Asp1201His)
c.3559G>C (p.Asp1187His)
c.3523G>C (p.Asp1175His)
19g.7120717C>TCA403669526INSRc.3562G>A (p.Asp1188Asn)
c.3526G>A (p.Asp1176Asn)
n.473G>A
c.3637G>A (p.Asp1213Asn)
c.3601G>A (p.Asp1201Asn)
c.3559G>A (p.Asp1187Asn)
c.3523G>A (p.Asp1175Asn)
19g.7120718C>ACA505216711INSRc.3561G>T (p.Thr1187=)
c.3525G>T (p.Thr1175=)
n.472G>T
c.3636G>T (p.Thr1212=)
c.3600G>T (p.Thr1200=)
c.3558G>T (p.Thr1186=)
c.3522G>T (p.Thr1174=)
19g.7120718C=CA2320765541INSRc.3561G= (p.Thr1187=)
c.3525G= (p.Thr1175=)
n.472G=
c.3636G= (p.Thr1212=)
c.3600G= (p.Thr1200=)
c.3558G= (p.Thr1186=)
c.3522G= (p.Thr1174=)
19g.7120718C>GCA505216710INSRc.3561G>C (p.Thr1187=)
c.3525G>C (p.Thr1175=)
n.472G>C
c.3636G>C (p.Thr1212=)
c.3600G>C (p.Thr1200=)
c.3558G>C (p.Thr1186=)
c.3522G>C (p.Thr1174=)
dbSNP
19g.7120718C>TCA9135213INSRc.3561G>A (p.Thr1187=)
c.3525G>A (p.Thr1175=)
n.472G>A
c.3636G>A (p.Thr1212=)
c.3600G>A (p.Thr1200=)
c.3558G>A (p.Thr1186=)
c.3522G>A (p.Thr1174=)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
19g.7120719G>ACA9135214INSRc.3560C>T (p.Thr1187Met)
c.3524C>T (p.Thr1175Met)
n.471C>T
c.3635C>T (p.Thr1212Met)
c.3599C>T (p.Thr1200Met)
c.3557C>T (p.Thr1186Met)
c.3521C>T (p.Thr1174Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.7120719G>CCA403669527INSRc.3560C>G (p.Thr1187Arg)
c.3524C>G (p.Thr1175Arg)
n.471C>G
c.3635C>G (p.Thr1212Arg)
c.3599C>G (p.Thr1200Arg)
c.3557C>G (p.Thr1186Arg)
c.3521C>G (p.Thr1174Arg)
19g.7120719G=CA2320765542INSRc.3560C= (p.Thr1187=)
c.3524C= (p.Thr1175=)
n.471C=
c.3635C= (p.Thr1212=)
c.3599C= (p.Thr1200=)
c.3557C= (p.Thr1186=)
c.3521C= (p.Thr1174=)
19g.7120719G>TCA403669528INSRc.3560C>A (p.Thr1187Lys)
c.3524C>A (p.Thr1175Lys)
n.471C>A
c.3635C>A (p.Thr1212Lys)
c.3599C>A (p.Thr1200Lys)
c.3557C>A (p.Thr1186Lys)
c.3521C>A (p.Thr1174Lys)
19g.7120720T>ACA403669529INSRc.3559A>T (p.Thr1187Ser)
c.3523A>T (p.Thr1175Ser)
n.470A>T
c.3634A>T (p.Thr1212Ser)
c.3598A>T (p.Thr1200Ser)
c.3556A>T (p.Thr1186Ser)
c.3520A>T (p.Thr1174Ser)
19g.7120720T>CCA403669531INSRc.3559A>G (p.Thr1187Ala)
c.3523A>G (p.Thr1175Ala)
n.470A>G
c.3634A>G (p.Thr1212Ala)
c.3598A>G (p.Thr1200Ala)
c.3556A>G (p.Thr1186Ala)
c.3520A>G (p.Thr1174Ala)
gnomAD v4
19g.7120720T>GCA403669530INSRc.3559A>C (p.Thr1187Pro)
c.3523A>C (p.Thr1175Pro)
n.470A>C
c.3634A>C (p.Thr1212Pro)
c.3598A>C (p.Thr1200Pro)
c.3556A>C (p.Thr1186Pro)
c.3520A>C (p.Thr1174Pro)
19g.7120721T>ACA403669532INSRc.3558A>T (p.Glu1186Asp)
c.3522A>T (p.Glu1174Asp)
n.469A>T
c.3633A>T (p.Glu1211Asp)
c.3597A>T (p.Glu1199Asp)
c.3555A>T (p.Glu1185Asp)
c.3519A>T (p.Glu1173Asp)
19g.7120721T>CCA505216715INSRc.3558A>G (p.Glu1186=)
c.3522A>G (p.Glu1174=)
n.469A>G
c.3633A>G (p.Glu1211=)
c.3597A>G (p.Glu1199=)
c.3555A>G (p.Glu1185=)
c.3519A>G (p.Glu1173=)
19g.7120721T>GCA403669533INSRc.3558A>C (p.Glu1186Asp)
c.3522A>C (p.Glu1174Asp)
n.469A>C
c.3633A>C (p.Glu1211Asp)
c.3597A>C (p.Glu1199Asp)
c.3555A>C (p.Glu1185Asp)
c.3519A>C (p.Glu1173Asp)
19g.7120722T>ACA403669534INSRc.3557A>T (p.Glu1186Val)
c.3521A>T (p.Glu1174Val)
n.468A>T
c.3632A>T (p.Glu1211Val)
c.3596A>T (p.Glu1199Val)
c.3554A>T (p.Glu1185Val)
c.3518A>T (p.Glu1173Val)
19g.7120722T>CCA403669535INSRc.3557A>G (p.Glu1186Gly)
c.3521A>G (p.Glu1174Gly)
n.468A>G
c.3632A>G (p.Glu1211Gly)
c.3596A>G (p.Glu1199Gly)
c.3554A>G (p.Glu1185Gly)
c.3518A>G (p.Glu1173Gly)
19g.7120722T>GCA403669536INSRc.3557A>C (p.Glu1186Ala)
c.3521A>C (p.Glu1174Ala)
n.468A>C
c.3632A>C (p.Glu1211Ala)
c.3596A>C (p.Glu1199Ala)
c.3554A>C (p.Glu1185Ala)
c.3518A>C (p.Glu1173Ala)
19g.7120723C>ACA403669537INSRc.3556G>T (p.Glu1186Ter)
c.3520G>T (p.Glu1174Ter)
n.467G>T
c.3631G>T (p.Glu1211Ter)
c.3595G>T (p.Glu1199Ter)
c.3553G>T (p.Glu1185Ter)
c.3517G>T (p.Glu1173Ter)
gnomAD v4
19g.7120723C>GCA403669538INSRc.3556G>C (p.Glu1186Gln)
c.3520G>C (p.Glu1174Gln)
n.467G>C
c.3631G>C (p.Glu1211Gln)
c.3595G>C (p.Glu1199Gln)
c.3553G>C (p.Glu1185Gln)
c.3517G>C (p.Glu1173Gln)
COSMIC COSMIC
19g.7120723C>TCA403669539INSRc.3556G>A (p.Glu1186Lys)
c.3520G>A (p.Glu1174Lys)
n.467G>A
c.3631G>A (p.Glu1211Lys)
c.3595G>A (p.Glu1199Lys)
c.3553G>A (p.Glu1185Lys)
c.3517G>A (p.Glu1173Lys)
19g.7120724A=CA2320765543INSRc.3555T= (p.Tyr1185=)
c.3519T= (p.Tyr1173=)
n.466T=
c.3630T= (p.Tyr1210=)
c.3594T= (p.Tyr1198=)
c.3552T= (p.Tyr1184=)
c.3516T= (p.Tyr1172=)
19g.7120724A>CCA403669540INSRc.3555T>G (p.Tyr1185Ter)
c.3519T>G (p.Tyr1173Ter)
n.466T>G
c.3630T>G (p.Tyr1210Ter)
c.3594T>G (p.Tyr1198Ter)
c.3552T>G (p.Tyr1184Ter)
c.3516T>G (p.Tyr1172Ter)
19g.7120724A>GCA505216716INSRc.3555T>C (p.Tyr1185=)
c.3519T>C (p.Tyr1173=)
n.466T>C
c.3630T>C (p.Tyr1210=)
c.3594T>C (p.Tyr1198=)
c.3552T>C (p.Tyr1184=)
c.3516T>C (p.Tyr1172=)
dbSNP gnomAD v4
19g.7120724A>TCA403669541INSRc.3555T>A (p.Tyr1185Ter)
c.3519T>A (p.Tyr1173Ter)
n.466T>A
c.3630T>A (p.Tyr1210Ter)
c.3594T>A (p.Tyr1198Ter)
c.3552T>A (p.Tyr1184Ter)
c.3516T>A (p.Tyr1172Ter)
19g.7120725T>ACA403669544INSRc.3554A>T (p.Tyr1185Phe)
c.3518A>T (p.Tyr1173Phe)
n.465A>T
c.3629A>T (p.Tyr1210Phe)
c.3593A>T (p.Tyr1198Phe)
c.3551A>T (p.Tyr1184Phe)
c.3515A>T (p.Tyr1172Phe)
19g.7120725T>CCA403669543INSRc.3554A>G (p.Tyr1185Cys)
c.3518A>G (p.Tyr1173Cys)
n.465A>G
c.3629A>G (p.Tyr1210Cys)
c.3593A>G (p.Tyr1198Cys)
c.3551A>G (p.Tyr1184Cys)
c.3515A>G (p.Tyr1172Cys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7120725T>GCA403669542INSRc.3554A>C (p.Tyr1185Ser)
c.3518A>C (p.Tyr1173Ser)
n.465A>C
c.3629A>C (p.Tyr1210Ser)
c.3593A>C (p.Tyr1198Ser)
c.3551A>C (p.Tyr1184Ser)
c.3515A>C (p.Tyr1172Ser)
19g.7120725T=CA2320765544INSRc.3554A= (p.Tyr1185=)
c.3518A= (p.Tyr1173=)
n.465A=
c.3629A= (p.Tyr1210=)
c.3593A= (p.Tyr1198=)
c.3551A= (p.Tyr1184=)
c.3515A= (p.Tyr1172=)
19g.7120726A>CCA403669545INSRc.3553T>G (p.Tyr1185Asp)
c.3517T>G (p.Tyr1173Asp)
n.464T>G
c.3628T>G (p.Tyr1210Asp)
c.3592T>G (p.Tyr1198Asp)
c.3550T>G (p.Tyr1184Asp)
c.3514T>G (p.Tyr1172Asp)
19g.7120726A>GCA403669546INSRc.3553T>C (p.Tyr1185His)
c.3517T>C (p.Tyr1173His)
n.464T>C
c.3628T>C (p.Tyr1210His)
c.3592T>C (p.Tyr1198His)
c.3550T>C (p.Tyr1184His)
c.3514T>C (p.Tyr1172His)
19g.7120726A>TCA403669547INSRc.3553T>A (p.Tyr1185Asn)
c.3517T>A (p.Tyr1173Asn)
n.464T>A
c.3628T>A (p.Tyr1210Asn)
c.3592T>A (p.Tyr1198Asn)
c.3550T>A (p.Tyr1184Asn)
c.3514T>A (p.Tyr1172Asn)
19g.7120727G>ACA505216718INSRc.3552C>T (p.Ile1184=)
c.3516C>T (p.Ile1172=)
n.463C>T
c.3627C>T (p.Ile1209=)
c.3591C>T (p.Ile1197=)
c.3549C>T (p.Ile1183=)
c.3513C>T (p.Ile1171=)
19g.7120727G>CCA403669548INSRc.3552C>G (p.Ile1184Met)
c.3516C>G (p.Ile1172Met)
n.463C>G
c.3627C>G (p.Ile1209Met)
c.3591C>G (p.Ile1197Met)
c.3549C>G (p.Ile1183Met)
c.3513C>G (p.Ile1171Met)
19g.7120727G>TCA505216719INSRc.3552C>A (p.Ile1184=)
c.3516C>A (p.Ile1172=)
n.463C>A
c.3627C>A (p.Ile1209=)
c.3591C>A (p.Ile1197=)
c.3549C>A (p.Ile1183=)
c.3513C>A (p.Ile1171=)
19g.7120728A>CCA403669549INSRc.3551T>G (p.Ile1184Ser)
c.3515T>G (p.Ile1172Ser)
n.462T>G
c.3626T>G (p.Ile1209Ser)
c.3590T>G (p.Ile1197Ser)
c.3548T>G (p.Ile1183Ser)
c.3512T>G (p.Ile1171Ser)
19g.7120728A>GCA403669550INSRc.3551T>C (p.Ile1184Thr)
c.3515T>C (p.Ile1172Thr)
n.462T>C
c.3626T>C (p.Ile1209Thr)
c.3590T>C (p.Ile1197Thr)
c.3548T>C (p.Ile1183Thr)
c.3512T>C (p.Ile1171Thr)
19g.7120728A>TCA403669551INSRc.3551T>A (p.Ile1184Asn)
c.3515T>A (p.Ile1172Asn)
n.462T>A
c.3626T>A (p.Ile1209Asn)
c.3590T>A (p.Ile1197Asn)
c.3548T>A (p.Ile1183Asn)
c.3512T>A (p.Ile1171Asn)
19g.7120728_7120734delCA2576594953INSRc.3545_3551del (p.Arg1182ThrfsTer25)
c.3509_3515del (p.Arg1170ThrfsTer25)
n.456_462del
c.3620_3626del (p.Arg1207ThrfsTer25)
c.3584_3590del (p.Arg1195ThrfsTer25)
c.3542_3548del (p.Arg1181ThrfsTer25)
c.3506_3512del (p.Arg1169ThrfsTer25)
gnomAD v4
19g.7120729T>ACA403669552INSRc.3550A>T (p.Ile1184Phe)
c.3514A>T (p.Ile1172Phe)
n.461A>T
c.3625A>T (p.Ile1209Phe)
c.3589A>T (p.Ile1197Phe)
c.3547A>T (p.Ile1183Phe)
c.3511A>T (p.Ile1171Phe)
gnomAD v4
19g.7120729T>CCA403669553INSRc.3550A>G (p.Ile1184Val)
c.3514A>G (p.Ile1172Val)
n.461A>G
c.3625A>G (p.Ile1209Val)
c.3589A>G (p.Ile1197Val)
c.3547A>G (p.Ile1183Val)
c.3511A>G (p.Ile1171Val)
dbSNP gnomAD v3 gnomAD v4
19g.7120729T>GCA403669554INSRc.3550A>C (p.Ile1184Leu)
c.3514A>C (p.Ile1172Leu)
n.461A>C
c.3625A>C (p.Ile1209Leu)
c.3589A>C (p.Ile1197Leu)
c.3547A>C (p.Ile1183Leu)
c.3511A>C (p.Ile1171Leu)
19g.7120729T=CA2320765545INSRc.3550A= (p.Ile1184=)
c.3514A= (p.Ile1172=)
n.461A=
c.3625A= (p.Ile1209=)
c.3589A= (p.Ile1197=)
c.3547A= (p.Ile1183=)
c.3511A= (p.Ile1171=)
19g.7120730G>ACA505216721INSRc.3549C>T (p.Asp1183=)
c.3513C>T (p.Asp1171=)
n.460C>T
c.3624C>T (p.Asp1208=)
c.3588C>T (p.Asp1196=)
c.3546C>T (p.Asp1182=)
c.3510C>T (p.Asp1170=)
19g.7120730G>CCA403669555INSRc.3549C>G (p.Asp1183Glu)
c.3513C>G (p.Asp1171Glu)
n.460C>G
c.3624C>G (p.Asp1208Glu)
c.3588C>G (p.Asp1196Glu)
c.3546C>G (p.Asp1182Glu)
c.3510C>G (p.Asp1170Glu)
19g.7120730G>TCA403669556INSRc.3549C>A (p.Asp1183Glu)
c.3513C>A (p.Asp1171Glu)
n.460C>A
c.3624C>A (p.Asp1208Glu)
c.3588C>A (p.Asp1196Glu)
c.3546C>A (p.Asp1182Glu)
c.3510C>A (p.Asp1170Glu)
19g.7120731T>ACA403669558INSRc.3548A>T (p.Asp1183Val)
c.3512A>T (p.Asp1171Val)
n.459A>T
c.3623A>T (p.Asp1208Val)
c.3587A>T (p.Asp1196Val)
c.3545A>T (p.Asp1182Val)
c.3509A>T (p.Asp1170Val)
19g.7120731T>CCA403669559INSRc.3548A>G (p.Asp1183Gly)
c.3512A>G (p.Asp1171Gly)
n.459A>G
c.3623A>G (p.Asp1208Gly)
c.3587A>G (p.Asp1196Gly)
c.3545A>G (p.Asp1182Gly)
c.3509A>G (p.Asp1170Gly)
19g.7120731T>GCA403669557INSRc.3548A>C (p.Asp1183Ala)
c.3512A>C (p.Asp1171Ala)
n.459A>C
c.3623A>C (p.Asp1208Ala)
c.3587A>C (p.Asp1196Ala)
c.3545A>C (p.Asp1182Ala)
c.3509A>C (p.Asp1170Ala)
19g.7120732C>ACA403669562INSRc.3547G>T (p.Asp1183Tyr)
c.3511G>T (p.Asp1171Tyr)
n.458G>T
c.3622G>T (p.Asp1208Tyr)
c.3586G>T (p.Asp1196Tyr)
c.3544G>T (p.Asp1182Tyr)
c.3508G>T (p.Asp1170Tyr)
19g.7120732C>GCA403669560INSRc.3547G>C (p.Asp1183His)
c.3511G>C (p.Asp1171His)
n.458G>C
c.3622G>C (p.Asp1208His)
c.3586G>C (p.Asp1196His)
c.3544G>C (p.Asp1182His)
c.3508G>C (p.Asp1170His)
19g.7120732C>TCA403669561INSRc.3547G>A (p.Asp1183Asn)
c.3511G>A (p.Asp1171Asn)
n.458G>A
c.3622G>A (p.Asp1208Asn)
c.3586G>A (p.Asp1196Asn)
c.3544G>A (p.Asp1182Asn)
c.3508G>A (p.Asp1170Asn)
19g.7120733T>ACA403669563INSRc.3546A>T (p.Arg1182Ser)
c.3510A>T (p.Arg1170Ser)
n.457A>T
c.3621A>T (p.Arg1207Ser)
c.3585A>T (p.Arg1195Ser)
c.3543A>T (p.Arg1181Ser)
c.3507A>T (p.Arg1169Ser)
19g.7120733T>CCA505216723INSRc.3546A>G (p.Arg1182=)
c.3510A>G (p.Arg1170=)
n.457A>G
c.3621A>G (p.Arg1207=)
c.3585A>G (p.Arg1195=)
c.3543A>G (p.Arg1181=)
c.3507A>G (p.Arg1169=)
19g.7120733T>GCA403669564INSRc.3546A>C (p.Arg1182Ser)
c.3510A>C (p.Arg1170Ser)
n.457A>C
c.3621A>C (p.Arg1207Ser)
c.3585A>C (p.Arg1195Ser)
c.3543A>C (p.Arg1181Ser)
c.3507A>C (p.Arg1169Ser)
19g.7120734C>ACA403669565INSRc.3545G>T (p.Arg1182Ile)
c.3509G>T (p.Arg1170Ile)
n.456G>T
c.3620G>T (p.Arg1207Ile)
c.3584G>T (p.Arg1195Ile)
c.3542G>T (p.Arg1181Ile)
c.3506G>T (p.Arg1169Ile)
19g.7120734C>GCA403669566INSRc.3545G>C (p.Arg1182Thr)
c.3509G>C (p.Arg1170Thr)
n.456G>C
c.3620G>C (p.Arg1207Thr)
c.3584G>C (p.Arg1195Thr)
c.3542G>C (p.Arg1181Thr)
c.3506G>C (p.Arg1169Thr)
19g.7120734C>TCA403669567INSRc.3545G>A (p.Arg1182Lys)
c.3509G>A (p.Arg1170Lys)
n.456G>A
c.3620G>A (p.Arg1207Lys)
c.3584G>A (p.Arg1195Lys)
c.3542G>A (p.Arg1181Lys)
c.3506G>A (p.Arg1169Lys)
19g.7120735T>ACA403669568INSRc.3544A>T (p.Arg1182Ter)
c.3508A>T (p.Arg1170Ter)
n.455A>T
c.3619A>T (p.Arg1207Ter)
c.3583A>T (p.Arg1195Ter)
c.3541A>T (p.Arg1181Ter)
c.3505A>T (p.Arg1169Ter)
19g.7120735T>CCA403669569INSRc.3544A>G (p.Arg1182Gly)
c.3508A>G (p.Arg1170Gly)
n.455A>G
c.3619A>G (p.Arg1207Gly)
c.3583A>G (p.Arg1195Gly)
c.3541A>G (p.Arg1181Gly)
c.3505A>G (p.Arg1169Gly)
19g.7120735T>GCA505216724INSRc.3544A>C (p.Arg1182=)
c.3508A>C (p.Arg1170=)
n.455A>C
c.3619A>C (p.Arg1207=)
c.3583A>C (p.Arg1195=)
c.3541A>C (p.Arg1181=)
c.3505A>C (p.Arg1169=)
19g.7120736G>ACA505216727INSRc.3543C>T (p.Thr1181=)
c.3507C>T (p.Thr1169=)
n.454C>T
c.3618C>T (p.Thr1206=)
c.3582C>T (p.Thr1194=)
c.3540C>T (p.Thr1180=)
c.3504C>T (p.Thr1168=)
19g.7120736G>CCA505216726INSRc.3543C>G (p.Thr1181=)
c.3507C>G (p.Thr1169=)
n.454C>G
c.3618C>G (p.Thr1206=)
c.3582C>G (p.Thr1194=)
c.3540C>G (p.Thr1180=)
c.3504C>G (p.Thr1168=)
19g.7120736G>TCA505216725INSRc.3543C>A (p.Thr1181=)
c.3507C>A (p.Thr1169=)
n.454C>A
c.3618C>A (p.Thr1206=)
c.3582C>A (p.Thr1194=)
c.3540C>A (p.Thr1180=)
c.3504C>A (p.Thr1168=)
gnomAD v4
19g.7120737G>ACA403669570INSRc.3542C>T (p.Thr1181Ile)
c.3506C>T (p.Thr1169Ile)
n.453C>T
c.3617C>T (p.Thr1206Ile)
c.3581C>T (p.Thr1194Ile)
c.3539C>T (p.Thr1180Ile)
c.3503C>T (p.Thr1168Ile)
19g.7120737G>CCA403669571INSRc.3542C>G (p.Thr1181Ser)
c.3506C>G (p.Thr1169Ser)
n.453C>G
c.3617C>G (p.Thr1206Ser)
c.3581C>G (p.Thr1194Ser)
c.3539C>G (p.Thr1180Ser)
c.3503C>G (p.Thr1168Ser)
19g.7120737G>TCA403669572INSRc.3542C>A (p.Thr1181Asn)
c.3506C>A (p.Thr1169Asn)
n.453C>A
c.3617C>A (p.Thr1206Asn)
c.3581C>A (p.Thr1194Asn)
c.3539C>A (p.Thr1180Asn)
c.3503C>A (p.Thr1168Asn)
19g.7120738T>ACA403669575INSRc.3541A>T (p.Thr1181Ser)
c.3505A>T (p.Thr1169Ser)
n.452A>T
c.3616A>T (p.Thr1206Ser)
c.3580A>T (p.Thr1194Ser)
c.3538A>T (p.Thr1180Ser)
c.3502A>T (p.Thr1168Ser)
19g.7120738T>CCA403669574INSRc.3541A>G (p.Thr1181Ala)
c.3505A>G (p.Thr1169Ala)
n.452A>G
c.3616A>G (p.Thr1206Ala)
c.3580A>G (p.Thr1194Ala)
c.3538A>G (p.Thr1180Ala)
c.3502A>G (p.Thr1168Ala)
gnomAD v4
19g.7120738T>GCA403669573INSRc.3541A>C (p.Thr1181Pro)
c.3505A>C (p.Thr1169Pro)
n.452A>C
c.3616A>C (p.Thr1206Pro)
c.3580A>C (p.Thr1194Pro)
c.3538A>C (p.Thr1180Pro)
c.3502A>C (p.Thr1168Pro)
19g.7120739C>ACA403669576INSRc.3540G>T (p.Met1180Ile)
c.3504G>T (p.Met1168Ile)
n.451G>T
c.3615G>T (p.Met1205Ile)
c.3579G>T (p.Met1193Ile)
c.3537G>T (p.Met1179Ile)
c.3501G>T (p.Met1167Ile)
gnomAD v4
19g.7120739C=CA2320765546INSRc.3540G= (p.Met1180=)
c.3504G= (p.Met1168=)
n.451G=
c.3615G= (p.Met1205=)
c.3579G= (p.Met1193=)
c.3537G= (p.Met1179=)
c.3501G= (p.Met1167=)
19g.7120739C>GCA403669577INSRc.3540G>C (p.Met1180Ile)
c.3504G>C (p.Met1168Ile)
n.451G>C
c.3615G>C (p.Met1205Ile)
c.3579G>C (p.Met1193Ile)
c.3537G>C (p.Met1179Ile)
c.3501G>C (p.Met1167Ile)
19g.7120739C>TCA124266INSRc.3540G>A (p.Met1180Ile)
c.3504G>A (p.Met1168Ile)
n.451G>A
c.3615G>A (p.Met1205Ile)
c.3579G>A (p.Met1193Ile)
c.3537G>A (p.Met1179Ile)
c.3501G>A (p.Met1167Ile)
ClinVar dbSNP
19g.7120740A=CA2320765547INSRc.3539T= (p.Met1180=)
c.3503T= (p.Met1168=)
n.450T=
c.3614T= (p.Met1205=)
c.3578T= (p.Met1193=)
c.3536T= (p.Met1179=)
c.3500T= (p.Met1167=)
19g.7120740A>CCA403669578INSRc.3539T>G (p.Met1180Arg)
c.3503T>G (p.Met1168Arg)
n.450T>G
c.3614T>G (p.Met1205Arg)
c.3578T>G (p.Met1193Arg)
c.3536T>G (p.Met1179Arg)
c.3500T>G (p.Met1167Arg)
19g.7120740A>GCA403669579INSRc.3539T>C (p.Met1180Thr)
c.3503T>C (p.Met1168Thr)
n.450T>C
c.3614T>C (p.Met1205Thr)
c.3578T>C (p.Met1193Thr)
c.3536T>C (p.Met1179Thr)
c.3500T>C (p.Met1167Thr)
19g.7120740A>TCA403669580INSRc.3539T>A (p.Met1180Lys)
c.3503T>A (p.Met1168Lys)
n.450T>A
c.3614T>A (p.Met1205Lys)
c.3578T>A (p.Met1193Lys)
c.3536T>A (p.Met1179Lys)
c.3500T>A (p.Met1167Lys)
dbSNP gnomAD v2 gnomAD v4
19g.7120741T>ACA403669582INSRc.3538A>T (p.Met1180Leu)
c.3502A>T (p.Met1168Leu)
n.449A>T
c.3613A>T (p.Met1205Leu)
c.3577A>T (p.Met1193Leu)
c.3535A>T (p.Met1179Leu)
c.3499A>T (p.Met1167Leu)
19g.7120741T>CCA403669584INSRc.3538A>G (p.Met1180Val)
c.3502A>G (p.Met1168Val)
n.449A>G
c.3613A>G (p.Met1205Val)
c.3577A>G (p.Met1193Val)
c.3535A>G (p.Met1179Val)
c.3499A>G (p.Met1167Val)
19g.7120741T>GCA403669585INSRc.3538A>C (p.Met1180Leu)
c.3502A>C (p.Met1168Leu)
n.449A>C
c.3613A>C (p.Met1205Leu)
c.3577A>C (p.Met1193Leu)
c.3535A>C (p.Met1179Leu)
c.3499A>C (p.Met1167Leu)
19g.7120742T>ACA505216730INSRc.3537A>T (p.Gly1179=)
c.3501A>T (p.Gly1167=)
n.448A>T
c.3612A>T (p.Gly1204=)
c.3576A>T (p.Gly1192=)
c.3534A>T (p.Gly1178=)
c.3498A>T (p.Gly1166=)
19g.7120742T>CCA505216731INSRc.3537A>G (p.Gly1179=)
c.3501A>G (p.Gly1167=)
n.448A>G
c.3612A>G (p.Gly1204=)
c.3576A>G (p.Gly1192=)
c.3534A>G (p.Gly1178=)
c.3498A>G (p.Gly1166=)
19g.7120742T>GCA505216732INSRc.3537A>C (p.Gly1179=)
c.3501A>C (p.Gly1167=)
n.448A>C
c.3612A>C (p.Gly1204=)
c.3576A>C (p.Gly1192=)
c.3534A>C (p.Gly1178=)
c.3498A>C (p.Gly1166=)
19g.7120743C>ACA403669587INSRc.3536G>T (p.Gly1179Val)
c.3500G>T (p.Gly1167Val)
n.447G>T
c.3611G>T (p.Gly1204Val)
c.3575G>T (p.Gly1192Val)
c.3533G>T (p.Gly1178Val)
c.3497G>T (p.Gly1166Val)
19g.7120743C>GCA403669588INSRc.3536G>C (p.Gly1179Ala)
c.3500G>C (p.Gly1167Ala)
n.447G>C
c.3611G>C (p.Gly1204Ala)
c.3575G>C (p.Gly1192Ala)
c.3533G>C (p.Gly1178Ala)
c.3497G>C (p.Gly1166Ala)
19g.7120743C>TCA403669590INSRc.3536G>A (p.Gly1179Glu)
c.3500G>A (p.Gly1167Glu)
n.447G>A
c.3611G>A (p.Gly1204Glu)
c.3575G>A (p.Gly1192Glu)
c.3533G>A (p.Gly1178Glu)
c.3497G>A (p.Gly1166Glu)
19g.7120744C>ACA403669595INSRc.3535G>T (p.Gly1179Ter)
c.3499G>T (p.Gly1167Ter)
n.446G>T
c.3610G>T (p.Gly1204Ter)
c.3574G>T (p.Gly1192Ter)
c.3532G>T (p.Gly1178Ter)
c.3496G>T (p.Gly1166Ter)
19g.7120744C>GCA403669594INSRc.3535G>C (p.Gly1179Arg)
c.3499G>C (p.Gly1167Arg)
n.446G>C
c.3610G>C (p.Gly1204Arg)
c.3574G>C (p.Gly1192Arg)
c.3532G>C (p.Gly1178Arg)
c.3496G>C (p.Gly1166Arg)
19g.7120744C>TCA403669592INSRc.3535G>A (p.Gly1179Arg)
c.3499G>A (p.Gly1167Arg)
n.446G>A
c.3610G>A (p.Gly1204Arg)
c.3574G>A (p.Gly1192Arg)
c.3532G>A (p.Gly1178Arg)
c.3496G>A (p.Gly1166Arg)
19g.7120745A>CCA403669596INSRc.3534T>G (p.Phe1178Leu)
c.3498T>G (p.Phe1166Leu)
n.445T>G
c.3609T>G (p.Phe1203Leu)
c.3573T>G (p.Phe1191Leu)
c.3531T>G (p.Phe1177Leu)
c.3495T>G (p.Phe1165Leu)
19g.7120745A>GCA505216735INSRc.3534T>C (p.Phe1178=)
c.3498T>C (p.Phe1166=)
n.445T>C
c.3609T>C (p.Phe1203=)
c.3573T>C (p.Phe1191=)
c.3531T>C (p.Phe1177=)
c.3495T>C (p.Phe1165=)
dbSNP
19g.7120745A>TCA403669598INSRc.3534T>A (p.Phe1178Leu)
c.3498T>A (p.Phe1166Leu)
n.445T>A
c.3609T>A (p.Phe1203Leu)
c.3573T>A (p.Phe1191Leu)
c.3531T>A (p.Phe1177Leu)
c.3495T>A (p.Phe1165Leu)
19g.7120746A>CCA403669599INSRc.3533T>G (p.Phe1178Cys)
c.3497T>G (p.Phe1166Cys)
n.444T>G
c.3608T>G (p.Phe1203Cys)
c.3572T>G (p.Phe1191Cys)
c.3530T>G (p.Phe1177Cys)
c.3494T>G (p.Phe1165Cys)
19g.7120746A>GCA403669601INSRc.3533T>C (p.Phe1178Ser)
c.3497T>C (p.Phe1166Ser)
n.444T>C
c.3608T>C (p.Phe1203Ser)
c.3572T>C (p.Phe1191Ser)
c.3530T>C (p.Phe1177Ser)
c.3494T>C (p.Phe1165Ser)
19g.7120746A>TCA403669603INSRc.3533T>A (p.Phe1178Tyr)
c.3497T>A (p.Phe1166Tyr)
n.444T>A
c.3608T>A (p.Phe1203Tyr)
c.3572T>A (p.Phe1191Tyr)
c.3530T>A (p.Phe1177Tyr)
c.3494T>A (p.Phe1165Tyr)
19g.7120747A>CCA403669604INSRc.3532T>G (p.Phe1178Val)
c.3496T>G (p.Phe1166Val)
n.443T>G
c.3607T>G (p.Phe1203Val)
c.3571T>G (p.Phe1191Val)
c.3529T>G (p.Phe1177Val)
c.3493T>G (p.Phe1165Val)
19g.7120747A>GCA403669606INSRc.3532T>C (p.Phe1178Leu)
c.3496T>C (p.Phe1166Leu)
n.443T>C
c.3607T>C (p.Phe1203Leu)
c.3571T>C (p.Phe1191Leu)
c.3529T>C (p.Phe1177Leu)
c.3493T>C (p.Phe1165Leu)
19g.7120747A>TCA403669607INSRc.3532T>A (p.Phe1178Ile)
c.3496T>A (p.Phe1166Ile)
n.443T>A
c.3607T>A (p.Phe1203Ile)
c.3571T>A (p.Phe1191Ile)
c.3529T>A (p.Phe1177Ile)
c.3493T>A (p.Phe1165Ile)
19g.7120748G>ACA505216736INSRc.3531C>T (p.Asp1177=)
c.3495C>T (p.Asp1165=)
n.442C>T
c.3606C>T (p.Asp1202=)
c.3570C>T (p.Asp1190=)
c.3528C>T (p.Asp1176=)
c.3492C>T (p.Asp1164=)
gnomAD v4
19g.7120748G>CCA403669609INSRc.3531C>G (p.Asp1177Glu)
c.3495C>G (p.Asp1165Glu)
n.442C>G
c.3606C>G (p.Asp1202Glu)
c.3570C>G (p.Asp1190Glu)
c.3528C>G (p.Asp1176Glu)
c.3492C>G (p.Asp1164Glu)
19g.7120748G>TCA403669611INSRc.3531C>A (p.Asp1177Glu)
c.3495C>A (p.Asp1165Glu)
n.442C>A
c.3606C>A (p.Asp1202Glu)
c.3570C>A (p.Asp1190Glu)
c.3528C>A (p.Asp1176Glu)
c.3492C>A (p.Asp1164Glu)

Number of alleles fetched