Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.115046505A>C | CA374630865 | TNC | c.318-4164T>G c.3215-4164T>G (n.3215-4164T>G) c.3941T>G (p.Ile1314Arg) c.1973T>G (p.Ile658Arg) c.629T>G (p.Ile210Arg) c.3988T>G c.5030T>G (p.Ile1677Arg) c.4484T>G (p.Ile1495Arg) c.4307-4164T>G (n.4307-4164T>G) n.348T>G n.253-4164T>G n.40-4164T>G c.717T>G c.4757T>G (p.Ile1586Arg) c.4034-4164T>G (n.4034-4164T>G) c.3392T>G (p.Ile1131Arg) c.5306T>G (p.Ile1769Arg) c.3488-4164T>G (n.3488-4164T>G) c.5033T>G (p.Ile1678Arg) c.4487T>G (p.Ile1496Arg) c.4580-4164T>G (n.4580-4164T>G) c.4214T>G (p.Ile1405Arg) c.3761-4164T>G (n.3761-4164T>G) c.3665T>G (p.Ile1222Arg) c.5579T>G (p.Ile1860Arg) c.5303T>G (p.Ile1768Arg) | |
9 | g.115046505A>G | CA374630866 | TNC | c.318-4164T>C c.3215-4164T>C (n.3215-4164T>C) c.3941T>C (p.Ile1314Thr) c.1973T>C (p.Ile658Thr) c.629T>C (p.Ile210Thr) c.3988T>C c.5030T>C (p.Ile1677Thr) c.4484T>C (p.Ile1495Thr) c.4307-4164T>C (n.4307-4164T>C) n.348T>C n.253-4164T>C n.40-4164T>C c.717T>C c.4757T>C (p.Ile1586Thr) c.4034-4164T>C (n.4034-4164T>C) c.3392T>C (p.Ile1131Thr) c.5306T>C (p.Ile1769Thr) c.3488-4164T>C (n.3488-4164T>C) c.5033T>C (p.Ile1678Thr) c.4487T>C (p.Ile1496Thr) c.4580-4164T>C (n.4580-4164T>C) c.4214T>C (p.Ile1405Thr) c.3761-4164T>C (n.3761-4164T>C) c.3665T>C (p.Ile1222Thr) c.5579T>C (p.Ile1860Thr) c.5303T>C (p.Ile1768Thr) | gnomAD v4 |
9 | g.115046505A>T | CA374630868 | TNC | c.318-4164T>A c.3215-4164T>A (n.3215-4164T>A) c.3941T>A (p.Ile1314Lys) c.1973T>A (p.Ile658Lys) c.629T>A (p.Ile210Lys) c.3988T>A c.5030T>A (p.Ile1677Lys) c.4484T>A (p.Ile1495Lys) c.4307-4164T>A (n.4307-4164T>A) n.348T>A n.253-4164T>A n.40-4164T>A c.717T>A c.4757T>A (p.Ile1586Lys) c.4034-4164T>A (n.4034-4164T>A) c.3392T>A (p.Ile1131Lys) c.5306T>A (p.Ile1769Lys) c.3488-4164T>A (n.3488-4164T>A) c.5033T>A (p.Ile1678Lys) c.4487T>A (p.Ile1496Lys) c.4580-4164T>A (n.4580-4164T>A) c.4214T>A (p.Ile1405Lys) c.3761-4164T>A (n.3761-4164T>A) c.3665T>A (p.Ile1222Lys) c.5579T>A (p.Ile1860Lys) c.5303T>A (p.Ile1768Lys) | |
9 | g.115046506T>A | CA5207770 | TNC | c.318-4165A>T c.3215-4165A>T (n.3215-4165A>T) c.3940A>T (p.Ile1314Leu) c.1972A>T (p.Ile658Leu) c.628A>T (p.Ile210Leu) c.3987A>T c.5029A>T (p.Ile1677Leu) c.4483A>T (p.Ile1495Leu) c.4307-4165A>T (n.4307-4165A>T) n.347A>T n.253-4165A>T n.40-4165A>T c.716A>T c.4756A>T (p.Ile1586Leu) c.4034-4165A>T (n.4034-4165A>T) c.3391A>T (p.Ile1131Leu) c.5305A>T (p.Ile1769Leu) c.3488-4165A>T (n.3488-4165A>T) c.5032A>T (p.Ile1678Leu) c.4486A>T (p.Ile1496Leu) c.4580-4165A>T (n.4580-4165A>T) c.4213A>T (p.Ile1405Leu) c.3761-4165A>T (n.3761-4165A>T) c.3664A>T (p.Ile1222Leu) c.5578A>T (p.Ile1860Leu) c.5302A>T (p.Ile1768Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.115046506T>C | CA374630871 | TNC | c.318-4165A>G c.3215-4165A>G (n.3215-4165A>G) c.3940A>G (p.Ile1314Val) c.1972A>G (p.Ile658Val) c.628A>G (p.Ile210Val) c.3987A>G c.5029A>G (p.Ile1677Val) c.4483A>G (p.Ile1495Val) c.4307-4165A>G (n.4307-4165A>G) n.347A>G n.253-4165A>G n.40-4165A>G c.716A>G c.4756A>G (p.Ile1586Val) c.4034-4165A>G (n.4034-4165A>G) c.3391A>G (p.Ile1131Val) c.5305A>G (p.Ile1769Val) c.3488-4165A>G (n.3488-4165A>G) c.5032A>G (p.Ile1678Val) c.4486A>G (p.Ile1496Val) c.4580-4165A>G (n.4580-4165A>G) c.4213A>G (p.Ile1405Val) c.3761-4165A>G (n.3761-4165A>G) c.3664A>G (p.Ile1222Val) c.5578A>G (p.Ile1860Val) c.5302A>G (p.Ile1768Val) | gnomAD v4 |
9 | g.115046506T>G | CA374630873 | TNC | c.318-4165A>C c.3215-4165A>C (n.3215-4165A>C) c.3940A>C (p.Ile1314Leu) c.1972A>C (p.Ile658Leu) c.628A>C (p.Ile210Leu) c.3987A>C c.5029A>C (p.Ile1677Leu) c.4483A>C (p.Ile1495Leu) c.4307-4165A>C (n.4307-4165A>C) n.347A>C n.253-4165A>C n.40-4165A>C c.716A>C c.4756A>C (p.Ile1586Leu) c.4034-4165A>C (n.4034-4165A>C) c.3391A>C (p.Ile1131Leu) c.5305A>C (p.Ile1769Leu) c.3488-4165A>C (n.3488-4165A>C) c.5032A>C (p.Ile1678Leu) c.4486A>C (p.Ile1496Leu) c.4580-4165A>C (n.4580-4165A>C) c.4213A>C (p.Ile1405Leu) c.3761-4165A>C (n.3761-4165A>C) c.3664A>C (p.Ile1222Leu) c.5578A>C (p.Ile1860Leu) c.5302A>C (p.Ile1768Leu) | |
9 | g.115046506T= | CA1874118892 | TNC | c.318-4165A= c.3215-4165A= (n.3215-4165A=) c.3940A= (p.Ile1314=) c.1972A= (p.Ile658=) c.628A= (p.Ile210=) c.3987A= c.5029A= (p.Ile1677=) c.4483A= (p.Ile1495=) c.4307-4165A= (n.4307-4165A=) n.347A= n.253-4165A= n.40-4165A= c.716A= c.4756A= (p.Ile1586=) c.4034-4165A= (n.4034-4165A=) c.3391A= (p.Ile1131=) c.5305A= (p.Ile1769=) c.3488-4165A= (n.3488-4165A=) c.5032A= (p.Ile1678=) c.4486A= (p.Ile1496=) c.4580-4165A= (n.4580-4165A=) c.4213A= (p.Ile1405=) c.3761-4165A= (n.3761-4165A=) c.3664A= (p.Ile1222=) c.5578A= (p.Ile1860=) c.5302A= (p.Ile1768=) | |
9 | g.115046507G>A | CA466912417 | TNC | c.318-4166C>T c.3215-4166C>T (n.3215-4166C>T) c.3939C>T (p.Asp1313=) c.1971C>T (p.Asp657=) c.627C>T (p.Asp209=) c.3986C>T c.5028C>T (p.Asp1676=) c.4482C>T (p.Asp1494=) c.4307-4166C>T (n.4307-4166C>T) n.346C>T n.253-4166C>T n.40-4166C>T c.715C>T c.4755C>T (p.Asp1585=) c.4034-4166C>T (n.4034-4166C>T) c.3390C>T (p.Asp1130=) c.5304C>T (p.Asp1768=) c.3488-4166C>T (n.3488-4166C>T) c.5031C>T (p.Asp1677=) c.4485C>T (p.Asp1495=) c.4580-4166C>T (n.4580-4166C>T) c.4212C>T (p.Asp1404=) c.3761-4166C>T (n.3761-4166C>T) c.3663C>T (p.Asp1221=) c.5577C>T (p.Asp1859=) c.5301C>T (p.Asp1767=) | |
9 | g.115046507G>C | CA374630875 | TNC | c.318-4166C>G c.3215-4166C>G (n.3215-4166C>G) c.3939C>G (p.Asp1313Glu) c.1971C>G (p.Asp657Glu) c.627C>G (p.Asp209Glu) c.3986C>G c.5028C>G (p.Asp1676Glu) c.4482C>G (p.Asp1494Glu) c.4307-4166C>G (n.4307-4166C>G) n.346C>G n.253-4166C>G n.40-4166C>G c.715C>G c.4755C>G (p.Asp1585Glu) c.4034-4166C>G (n.4034-4166C>G) c.3390C>G (p.Asp1130Glu) c.5304C>G (p.Asp1768Glu) c.3488-4166C>G (n.3488-4166C>G) c.5031C>G (p.Asp1677Glu) c.4485C>G (p.Asp1495Glu) c.4580-4166C>G (n.4580-4166C>G) c.4212C>G (p.Asp1404Glu) c.3761-4166C>G (n.3761-4166C>G) c.3663C>G (p.Asp1221Glu) c.5577C>G (p.Asp1859Glu) c.5301C>G (p.Asp1767Glu) | |
9 | g.115046507G>T | CA374630876 | TNC | c.318-4166C>A c.3215-4166C>A (n.3215-4166C>A) c.3939C>A (p.Asp1313Glu) c.1971C>A (p.Asp657Glu) c.627C>A (p.Asp209Glu) c.3986C>A c.5028C>A (p.Asp1676Glu) c.4482C>A (p.Asp1494Glu) c.4307-4166C>A (n.4307-4166C>A) n.346C>A n.253-4166C>A n.40-4166C>A c.715C>A c.4755C>A (p.Asp1585Glu) c.4034-4166C>A (n.4034-4166C>A) c.3390C>A (p.Asp1130Glu) c.5304C>A (p.Asp1768Glu) c.3488-4166C>A (n.3488-4166C>A) c.5031C>A (p.Asp1677Glu) c.4485C>A (p.Asp1495Glu) c.4580-4166C>A (n.4580-4166C>A) c.4212C>A (p.Asp1404Glu) c.3761-4166C>A (n.3761-4166C>A) c.3663C>A (p.Asp1221Glu) c.5577C>A (p.Asp1859Glu) c.5301C>A (p.Asp1767Glu) | |
9 | g.115046508T>A | CA374630882 | TNC | c.318-4167A>T c.3215-4167A>T (n.3215-4167A>T) c.3938A>T (p.Asp1313Val) c.1970A>T (p.Asp657Val) c.626A>T (p.Asp209Val) c.3985A>T c.5027A>T (p.Asp1676Val) c.4481A>T (p.Asp1494Val) c.4307-4167A>T (n.4307-4167A>T) n.345A>T n.253-4167A>T n.40-4167A>T c.714A>T c.4754A>T (p.Asp1585Val) c.4034-4167A>T (n.4034-4167A>T) c.3389A>T (p.Asp1130Val) c.5303A>T (p.Asp1768Val) c.3488-4167A>T (n.3488-4167A>T) c.5030A>T (p.Asp1677Val) c.4484A>T (p.Asp1495Val) c.4580-4167A>T (n.4580-4167A>T) c.4211A>T (p.Asp1404Val) c.3761-4167A>T (n.3761-4167A>T) c.3662A>T (p.Asp1221Val) c.5576A>T (p.Asp1859Val) c.5300A>T (p.Asp1767Val) | dbSNP gnomAD v4 |
9 | g.115046508T>C | CA374630880 | TNC | c.318-4167A>G c.3215-4167A>G (n.3215-4167A>G) c.3938A>G (p.Asp1313Gly) c.1970A>G (p.Asp657Gly) c.626A>G (p.Asp209Gly) c.3985A>G c.5027A>G (p.Asp1676Gly) c.4481A>G (p.Asp1494Gly) c.4307-4167A>G (n.4307-4167A>G) n.345A>G n.253-4167A>G n.40-4167A>G c.714A>G c.4754A>G (p.Asp1585Gly) c.4034-4167A>G (n.4034-4167A>G) c.3389A>G (p.Asp1130Gly) c.5303A>G (p.Asp1768Gly) c.3488-4167A>G (n.3488-4167A>G) c.5030A>G (p.Asp1677Gly) c.4484A>G (p.Asp1495Gly) c.4580-4167A>G (n.4580-4167A>G) c.4211A>G (p.Asp1404Gly) c.3761-4167A>G (n.3761-4167A>G) c.3662A>G (p.Asp1221Gly) c.5576A>G (p.Asp1859Gly) c.5300A>G (p.Asp1767Gly) | gnomAD v4 |
9 | g.115046508T>G | CA374630879 | TNC | c.318-4167A>C c.3215-4167A>C (n.3215-4167A>C) c.3938A>C (p.Asp1313Ala) c.1970A>C (p.Asp657Ala) c.626A>C (p.Asp209Ala) c.3985A>C c.5027A>C (p.Asp1676Ala) c.4481A>C (p.Asp1494Ala) c.4307-4167A>C (n.4307-4167A>C) n.345A>C n.253-4167A>C n.40-4167A>C c.714A>C c.4754A>C (p.Asp1585Ala) c.4034-4167A>C (n.4034-4167A>C) c.3389A>C (p.Asp1130Ala) c.5303A>C (p.Asp1768Ala) c.3488-4167A>C (n.3488-4167A>C) c.5030A>C (p.Asp1677Ala) c.4484A>C (p.Asp1495Ala) c.4580-4167A>C (n.4580-4167A>C) c.4211A>C (p.Asp1404Ala) c.3761-4167A>C (n.3761-4167A>C) c.3662A>C (p.Asp1221Ala) c.5576A>C (p.Asp1859Ala) c.5300A>C (p.Asp1767Ala) | |
9 | g.115046508T= | CA1874118893 | TNC | c.318-4167A= c.3215-4167A= (n.3215-4167A=) c.3938A= (p.Asp1313=) c.1970A= (p.Asp657=) c.626A= (p.Asp209=) c.3985A= c.5027A= (p.Asp1676=) c.4481A= (p.Asp1494=) c.4307-4167A= (n.4307-4167A=) n.345A= n.253-4167A= n.40-4167A= c.714A= c.4754A= (p.Asp1585=) c.4034-4167A= (n.4034-4167A=) c.3389A= (p.Asp1130=) c.5303A= (p.Asp1768=) c.3488-4167A= (n.3488-4167A=) c.5030A= (p.Asp1677=) c.4484A= (p.Asp1495=) c.4580-4167A= (n.4580-4167A=) c.4211A= (p.Asp1404=) c.3761-4167A= (n.3761-4167A=) c.3662A= (p.Asp1221=) c.5576A= (p.Asp1859=) c.5300A= (p.Asp1767=) | |
9 | g.115046509C>A | CA374630884 | TNC | c.318-4168G>T c.3215-4168G>T (n.3215-4168G>T) c.3937G>T (p.Asp1313Tyr) c.1969G>T (p.Asp657Tyr) c.625G>T (p.Asp209Tyr) c.3984G>T c.5026G>T (p.Asp1676Tyr) c.4480G>T (p.Asp1494Tyr) c.4307-4168G>T (n.4307-4168G>T) n.344G>T n.253-4168G>T n.40-4168G>T c.713G>T c.4753G>T (p.Asp1585Tyr) c.4034-4168G>T (n.4034-4168G>T) c.3388G>T (p.Asp1130Tyr) c.5302G>T (p.Asp1768Tyr) c.3488-4168G>T (n.3488-4168G>T) c.5029G>T (p.Asp1677Tyr) c.4483G>T (p.Asp1495Tyr) c.4580-4168G>T (n.4580-4168G>T) c.4210G>T (p.Asp1404Tyr) c.3761-4168G>T (n.3761-4168G>T) c.3661G>T (p.Asp1221Tyr) c.5575G>T (p.Asp1859Tyr) c.5299G>T (p.Asp1767Tyr) | |
9 | g.115046509C= | CA1874118894 | TNC | c.318-4168G= c.3215-4168G= (n.3215-4168G=) c.3937G= (p.Asp1313=) c.1969G= (p.Asp657=) c.625G= (p.Asp209=) c.3984G= c.5026G= (p.Asp1676=) c.4480G= (p.Asp1494=) c.4307-4168G= (n.4307-4168G=) n.344G= n.253-4168G= n.40-4168G= c.713G= c.4753G= (p.Asp1585=) c.4034-4168G= (n.4034-4168G=) c.3388G= (p.Asp1130=) c.5302G= (p.Asp1768=) c.3488-4168G= (n.3488-4168G=) c.5029G= (p.Asp1677=) c.4483G= (p.Asp1495=) c.4580-4168G= (n.4580-4168G=) c.4210G= (p.Asp1404=) c.3761-4168G= (n.3761-4168G=) c.3661G= (p.Asp1221=) c.5575G= (p.Asp1859=) c.5299G= (p.Asp1767=) | |
9 | g.115046509C>G | CA198692591 | TNC | c.318-4168G>C c.3215-4168G>C (n.3215-4168G>C) c.3937G>C (p.Asp1313His) c.1969G>C (p.Asp657His) c.625G>C (p.Asp209His) c.3984G>C c.5026G>C (p.Asp1676His) c.4480G>C (p.Asp1494His) c.4307-4168G>C (n.4307-4168G>C) n.344G>C n.253-4168G>C n.40-4168G>C c.713G>C c.4753G>C (p.Asp1585His) c.4034-4168G>C (n.4034-4168G>C) c.3388G>C (p.Asp1130His) c.5302G>C (p.Asp1768His) c.3488-4168G>C (n.3488-4168G>C) c.5029G>C (p.Asp1677His) c.4483G>C (p.Asp1495His) c.4580-4168G>C (n.4580-4168G>C) c.4210G>C (p.Asp1404His) c.3761-4168G>C (n.3761-4168G>C) c.3661G>C (p.Asp1221His) c.5575G>C (p.Asp1859His) c.5299G>C (p.Asp1767His) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.115046509C>T | CA374630887 | TNC | c.318-4168G>A c.3215-4168G>A (n.3215-4168G>A) c.3937G>A (p.Asp1313Asn) c.1969G>A (p.Asp657Asn) c.625G>A (p.Asp209Asn) c.3984G>A c.5026G>A (p.Asp1676Asn) c.4480G>A (p.Asp1494Asn) c.4307-4168G>A (n.4307-4168G>A) n.344G>A n.253-4168G>A n.40-4168G>A c.713G>A c.4753G>A (p.Asp1585Asn) c.4034-4168G>A (n.4034-4168G>A) c.3388G>A (p.Asp1130Asn) c.5302G>A (p.Asp1768Asn) c.3488-4168G>A (n.3488-4168G>A) c.5029G>A (p.Asp1677Asn) c.4483G>A (p.Asp1495Asn) c.4580-4168G>A (n.4580-4168G>A) c.4210G>A (p.Asp1404Asn) c.3761-4168G>A (n.3761-4168G>A) c.3661G>A (p.Asp1221Asn) c.5575G>A (p.Asp1859Asn) c.5299G>A (p.Asp1767Asn) | gnomAD v4 |
9 | g.115046510C>A | CA374630888 | TNC | c.318-4169G>T c.3215-4169G>T (n.3215-4169G>T) c.3936G>T (p.Arg1312Ser) c.1968G>T (p.Arg656Ser) c.624G>T (p.Arg208Ser) c.3983G>T c.5025G>T (p.Arg1675Ser) c.4479G>T (p.Arg1493Ser) c.4307-4169G>T (n.4307-4169G>T) n.343G>T n.253-4169G>T n.40-4169G>T c.712G>T c.4752G>T (p.Arg1584Ser) c.4034-4169G>T (n.4034-4169G>T) c.3387G>T (p.Arg1129Ser) c.5301G>T (p.Arg1767Ser) c.3488-4169G>T (n.3488-4169G>T) c.5028G>T (p.Arg1676Ser) c.4482G>T (p.Arg1494Ser) c.4580-4169G>T (n.4580-4169G>T) c.4209G>T (p.Arg1403Ser) c.3761-4169G>T (n.3761-4169G>T) c.3660G>T (p.Arg1220Ser) c.5574G>T (p.Arg1858Ser) c.5298G>T (p.Arg1766Ser) | gnomAD v4 |
9 | g.115046510C>G | CA374630890 | TNC | c.318-4169G>C c.3215-4169G>C (n.3215-4169G>C) c.3936G>C (p.Arg1312Ser) c.1968G>C (p.Arg656Ser) c.624G>C (p.Arg208Ser) c.3983G>C c.5025G>C (p.Arg1675Ser) c.4479G>C (p.Arg1493Ser) c.4307-4169G>C (n.4307-4169G>C) n.343G>C n.253-4169G>C n.40-4169G>C c.712G>C c.4752G>C (p.Arg1584Ser) c.4034-4169G>C (n.4034-4169G>C) c.3387G>C (p.Arg1129Ser) c.5301G>C (p.Arg1767Ser) c.3488-4169G>C (n.3488-4169G>C) c.5028G>C (p.Arg1676Ser) c.4482G>C (p.Arg1494Ser) c.4580-4169G>C (n.4580-4169G>C) c.4209G>C (p.Arg1403Ser) c.3761-4169G>C (n.3761-4169G>C) c.3660G>C (p.Arg1220Ser) c.5574G>C (p.Arg1858Ser) c.5298G>C (p.Arg1766Ser) | |
9 | g.115046510C>T | CA466912421 | TNC | c.318-4169G>A c.3215-4169G>A (n.3215-4169G>A) c.3936G>A (p.Arg1312=) c.1968G>A (p.Arg656=) c.624G>A (p.Arg208=) c.3983G>A c.5025G>A (p.Arg1675=) c.4479G>A (p.Arg1493=) c.4307-4169G>A (n.4307-4169G>A) n.343G>A n.253-4169G>A n.40-4169G>A c.712G>A c.4752G>A (p.Arg1584=) c.4034-4169G>A (n.4034-4169G>A) c.3387G>A (p.Arg1129=) c.5301G>A (p.Arg1767=) c.3488-4169G>A (n.3488-4169G>A) c.5028G>A (p.Arg1676=) c.4482G>A (p.Arg1494=) c.4580-4169G>A (n.4580-4169G>A) c.4209G>A (p.Arg1403=) c.3761-4169G>A (n.3761-4169G>A) c.3660G>A (p.Arg1220=) c.5574G>A (p.Arg1858=) c.5298G>A (p.Arg1766=) | |
9 | g.115046511C>A | CA374630892 | TNC | c.318-4170G>T c.3215-4170G>T (n.3215-4170G>T) c.3935G>T (p.Arg1312Met) c.1967G>T (p.Arg656Met) c.623G>T (p.Arg208Met) c.3982G>T c.5024G>T (p.Arg1675Met) c.4478G>T (p.Arg1493Met) c.4307-4170G>T (n.4307-4170G>T) n.342G>T n.253-4170G>T n.40-4170G>T c.711G>T c.4751G>T (p.Arg1584Met) c.4034-4170G>T (n.4034-4170G>T) c.3386G>T (p.Arg1129Met) c.5300G>T (p.Arg1767Met) c.3488-4170G>T (n.3488-4170G>T) c.5027G>T (p.Arg1676Met) c.4481G>T (p.Arg1494Met) c.4580-4170G>T (n.4580-4170G>T) c.4208G>T (p.Arg1403Met) c.3761-4170G>T (n.3761-4170G>T) c.3659G>T (p.Arg1220Met) c.5573G>T (p.Arg1858Met) c.5297G>T (p.Arg1766Met) | |
9 | g.115046511C>G | CA374630894 | TNC | c.318-4170G>C c.3215-4170G>C (n.3215-4170G>C) c.3935G>C (p.Arg1312Thr) c.1967G>C (p.Arg656Thr) c.623G>C (p.Arg208Thr) c.3982G>C c.5024G>C (p.Arg1675Thr) c.4478G>C (p.Arg1493Thr) c.4307-4170G>C (n.4307-4170G>C) n.342G>C n.253-4170G>C n.40-4170G>C c.711G>C c.4751G>C (p.Arg1584Thr) c.4034-4170G>C (n.4034-4170G>C) c.3386G>C (p.Arg1129Thr) c.5300G>C (p.Arg1767Thr) c.3488-4170G>C (n.3488-4170G>C) c.5027G>C (p.Arg1676Thr) c.4481G>C (p.Arg1494Thr) c.4580-4170G>C (n.4580-4170G>C) c.4208G>C (p.Arg1403Thr) c.3761-4170G>C (n.3761-4170G>C) c.3659G>C (p.Arg1220Thr) c.5573G>C (p.Arg1858Thr) c.5297G>C (p.Arg1766Thr) | gnomAD v4 |
9 | g.115046511C>T | CA374630896 | TNC | c.318-4170G>A c.3215-4170G>A (n.3215-4170G>A) c.3935G>A (p.Arg1312Lys) c.1967G>A (p.Arg656Lys) c.623G>A (p.Arg208Lys) c.3982G>A c.5024G>A (p.Arg1675Lys) c.4478G>A (p.Arg1493Lys) c.4307-4170G>A (n.4307-4170G>A) n.342G>A n.253-4170G>A n.40-4170G>A c.711G>A c.4751G>A (p.Arg1584Lys) c.4034-4170G>A (n.4034-4170G>A) c.3386G>A (p.Arg1129Lys) c.5300G>A (p.Arg1767Lys) c.3488-4170G>A (n.3488-4170G>A) c.5027G>A (p.Arg1676Lys) c.4481G>A (p.Arg1494Lys) c.4580-4170G>A (n.4580-4170G>A) c.4208G>A (p.Arg1403Lys) c.3761-4170G>A (n.3761-4170G>A) c.3659G>A (p.Arg1220Lys) c.5573G>A (p.Arg1858Lys) c.5297G>A (p.Arg1766Lys) | |
9 | g.115046512T>A | CA374630898 | TNC | c.318-4171A>T c.3215-4171A>T (n.3215-4171A>T) c.3934A>T (p.Arg1312Trp) c.1966A>T (p.Arg656Trp) c.622A>T (p.Arg208Trp) c.3981A>T c.5023A>T (p.Arg1675Trp) c.4477A>T (p.Arg1493Trp) c.4307-4171A>T (n.4307-4171A>T) n.341A>T n.253-4171A>T n.40-4171A>T c.710A>T c.4750A>T (p.Arg1584Trp) c.4034-4171A>T (n.4034-4171A>T) c.3385A>T (p.Arg1129Trp) c.5299A>T (p.Arg1767Trp) c.3488-4171A>T (n.3488-4171A>T) c.5026A>T (p.Arg1676Trp) c.4480A>T (p.Arg1494Trp) c.4580-4171A>T (n.4580-4171A>T) c.4207A>T (p.Arg1403Trp) c.3761-4171A>T (n.3761-4171A>T) c.3658A>T (p.Arg1220Trp) c.5572A>T (p.Arg1858Trp) c.5296A>T (p.Arg1766Trp) | |
9 | g.115046512T>C | CA374630900 | TNC | c.318-4171A>G c.3215-4171A>G (n.3215-4171A>G) c.3934A>G (p.Arg1312Gly) c.1966A>G (p.Arg656Gly) c.622A>G (p.Arg208Gly) c.3981A>G c.5023A>G (p.Arg1675Gly) c.4477A>G (p.Arg1493Gly) c.4307-4171A>G (n.4307-4171A>G) n.341A>G n.253-4171A>G n.40-4171A>G c.710A>G c.4750A>G (p.Arg1584Gly) c.4034-4171A>G (n.4034-4171A>G) c.3385A>G (p.Arg1129Gly) c.5299A>G (p.Arg1767Gly) c.3488-4171A>G (n.3488-4171A>G) c.5026A>G (p.Arg1676Gly) c.4480A>G (p.Arg1494Gly) c.4580-4171A>G (n.4580-4171A>G) c.4207A>G (p.Arg1403Gly) c.3761-4171A>G (n.3761-4171A>G) c.3658A>G (p.Arg1220Gly) c.5572A>G (p.Arg1858Gly) c.5296A>G (p.Arg1766Gly) | dbSNP |
9 | g.115046512T>G | CA466912423 | TNC | c.318-4171A>C c.3215-4171A>C (n.3215-4171A>C) c.3934A>C (p.Arg1312=) c.1966A>C (p.Arg656=) c.622A>C (p.Arg208=) c.3981A>C c.5023A>C (p.Arg1675=) c.4477A>C (p.Arg1493=) c.4307-4171A>C (n.4307-4171A>C) n.341A>C n.253-4171A>C n.40-4171A>C c.710A>C c.4750A>C (p.Arg1584=) c.4034-4171A>C (n.4034-4171A>C) c.3385A>C (p.Arg1129=) c.5299A>C (p.Arg1767=) c.3488-4171A>C (n.3488-4171A>C) c.5026A>C (p.Arg1676=) c.4480A>C (p.Arg1494=) c.4580-4171A>C (n.4580-4171A>C) c.4207A>C (p.Arg1403=) c.3761-4171A>C (n.3761-4171A>C) c.3658A>C (p.Arg1220=) c.5572A>C (p.Arg1858=) c.5296A>C (p.Arg1766=) | |
9 | g.115046512T= | CA1874118895 | TNC | c.318-4171A= c.3215-4171A= (n.3215-4171A=) c.3934A= (p.Arg1312=) c.1966A= (p.Arg656=) c.622A= (p.Arg208=) c.3981A= c.5023A= (p.Arg1675=) c.4477A= (p.Arg1493=) c.4307-4171A= (n.4307-4171A=) n.341A= n.253-4171A= n.40-4171A= c.710A= c.4750A= (p.Arg1584=) c.4034-4171A= (n.4034-4171A=) c.3385A= (p.Arg1129=) c.5299A= (p.Arg1767=) c.3488-4171A= (n.3488-4171A=) c.5026A= (p.Arg1676=) c.4480A= (p.Arg1494=) c.4580-4171A= (n.4580-4171A=) c.4207A= (p.Arg1403=) c.3761-4171A= (n.3761-4171A=) c.3658A= (p.Arg1220=) c.5572A= (p.Arg1858=) c.5296A= (p.Arg1766=) | |
9 | g.115046513G>A | CA466912425 | TNC | c.318-4172C>T c.3215-4172C>T (n.3215-4172C>T) c.3933C>T (p.Thr1311=) c.1965C>T (p.Thr655=) c.621C>T (p.Thr207=) c.3980C>T c.5022C>T (p.Thr1674=) c.4476C>T (p.Thr1492=) c.4307-4172C>T (n.4307-4172C>T) n.340C>T n.253-4172C>T n.40-4172C>T c.709C>T c.4749C>T (p.Thr1583=) c.4034-4172C>T (n.4034-4172C>T) c.3384C>T (p.Thr1128=) c.5298C>T (p.Thr1766=) c.3488-4172C>T (n.3488-4172C>T) c.5025C>T (p.Thr1675=) c.4479C>T (p.Thr1493=) c.4580-4172C>T (n.4580-4172C>T) c.4206C>T (p.Thr1402=) c.3761-4172C>T (n.3761-4172C>T) c.3657C>T (p.Thr1219=) c.5571C>T (p.Thr1857=) c.5295C>T (p.Thr1765=) | gnomAD v4 |
9 | g.115046513G>C | CA466912427 | TNC | c.318-4172C>G c.3215-4172C>G (n.3215-4172C>G) c.3933C>G (p.Thr1311=) c.1965C>G (p.Thr655=) c.621C>G (p.Thr207=) c.3980C>G c.5022C>G (p.Thr1674=) c.4476C>G (p.Thr1492=) c.4307-4172C>G (n.4307-4172C>G) n.340C>G n.253-4172C>G n.40-4172C>G c.709C>G c.4749C>G (p.Thr1583=) c.4034-4172C>G (n.4034-4172C>G) c.3384C>G (p.Thr1128=) c.5298C>G (p.Thr1766=) c.3488-4172C>G (n.3488-4172C>G) c.5025C>G (p.Thr1675=) c.4479C>G (p.Thr1493=) c.4580-4172C>G (n.4580-4172C>G) c.4206C>G (p.Thr1402=) c.3761-4172C>G (n.3761-4172C>G) c.3657C>G (p.Thr1219=) c.5571C>G (p.Thr1857=) c.5295C>G (p.Thr1765=) | |
9 | g.115046513G>T | CA466912428 | TNC | c.318-4172C>A c.3215-4172C>A (n.3215-4172C>A) c.3933C>A (p.Thr1311=) c.1965C>A (p.Thr655=) c.621C>A (p.Thr207=) c.3980C>A c.5022C>A (p.Thr1674=) c.4476C>A (p.Thr1492=) c.4307-4172C>A (n.4307-4172C>A) n.340C>A n.253-4172C>A n.40-4172C>A c.709C>A c.4749C>A (p.Thr1583=) c.4034-4172C>A (n.4034-4172C>A) c.3384C>A (p.Thr1128=) c.5298C>A (p.Thr1766=) c.3488-4172C>A (n.3488-4172C>A) c.5025C>A (p.Thr1675=) c.4479C>A (p.Thr1493=) c.4580-4172C>A (n.4580-4172C>A) c.4206C>A (p.Thr1402=) c.3761-4172C>A (n.3761-4172C>A) c.3657C>A (p.Thr1219=) c.5571C>A (p.Thr1857=) c.5295C>A (p.Thr1765=) | |
9 | g.115046514G>A | CA374630902 | TNC | c.318-4173C>T c.3215-4173C>T (n.3215-4173C>T) c.3932C>T (p.Thr1311Ile) c.1964C>T (p.Thr655Ile) c.620C>T (p.Thr207Ile) c.3979C>T c.5021C>T (p.Thr1674Ile) c.4475C>T (p.Thr1492Ile) c.4307-4173C>T (n.4307-4173C>T) n.339C>T n.253-4173C>T n.40-4173C>T c.708C>T c.4748C>T (p.Thr1583Ile) c.4034-4173C>T (n.4034-4173C>T) c.3383C>T (p.Thr1128Ile) c.5297C>T (p.Thr1766Ile) c.3488-4173C>T (n.3488-4173C>T) c.5024C>T (p.Thr1675Ile) c.4478C>T (p.Thr1493Ile) c.4580-4173C>T (n.4580-4173C>T) c.4205C>T (p.Thr1402Ile) c.3761-4173C>T (n.3761-4173C>T) c.3656C>T (p.Thr1219Ile) c.5570C>T (p.Thr1857Ile) c.5294C>T (p.Thr1765Ile) | |
9 | g.115046514G>C | CA374630903 | TNC | c.318-4173C>G c.3215-4173C>G (n.3215-4173C>G) c.3932C>G (p.Thr1311Ser) c.1964C>G (p.Thr655Ser) c.620C>G (p.Thr207Ser) c.3979C>G c.5021C>G (p.Thr1674Ser) c.4475C>G (p.Thr1492Ser) c.4307-4173C>G (n.4307-4173C>G) n.339C>G n.253-4173C>G n.40-4173C>G c.708C>G c.4748C>G (p.Thr1583Ser) c.4034-4173C>G (n.4034-4173C>G) c.3383C>G (p.Thr1128Ser) c.5297C>G (p.Thr1766Ser) c.3488-4173C>G (n.3488-4173C>G) c.5024C>G (p.Thr1675Ser) c.4478C>G (p.Thr1493Ser) c.4580-4173C>G (n.4580-4173C>G) c.4205C>G (p.Thr1402Ser) c.3761-4173C>G (n.3761-4173C>G) c.3656C>G (p.Thr1219Ser) c.5570C>G (p.Thr1857Ser) c.5294C>G (p.Thr1765Ser) | ClinVar dbSNP |
9 | g.115046514G= | CA1874118896 | TNC | c.318-4173C= c.3215-4173C= (n.3215-4173C=) c.3932C= (p.Thr1311=) c.1964C= (p.Thr655=) c.620C= (p.Thr207=) c.3979C= c.5021C= (p.Thr1674=) c.4475C= (p.Thr1492=) c.4307-4173C= (n.4307-4173C=) n.339C= n.253-4173C= n.40-4173C= c.708C= c.4748C= (p.Thr1583=) c.4034-4173C= (n.4034-4173C=) c.3383C= (p.Thr1128=) c.5297C= (p.Thr1766=) c.3488-4173C= (n.3488-4173C=) c.5024C= (p.Thr1675=) c.4478C= (p.Thr1493=) c.4580-4173C= (n.4580-4173C=) c.4205C= (p.Thr1402=) c.3761-4173C= (n.3761-4173C=) c.3656C= (p.Thr1219=) c.5570C= (p.Thr1857=) c.5294C= (p.Thr1765=) | |
9 | g.115046514G>T | CA374630905 | TNC | c.318-4173C>A c.3215-4173C>A (n.3215-4173C>A) c.3932C>A (p.Thr1311Asn) c.1964C>A (p.Thr655Asn) c.620C>A (p.Thr207Asn) c.3979C>A c.5021C>A (p.Thr1674Asn) c.4475C>A (p.Thr1492Asn) c.4307-4173C>A (n.4307-4173C>A) n.339C>A n.253-4173C>A n.40-4173C>A c.708C>A c.4748C>A (p.Thr1583Asn) c.4034-4173C>A (n.4034-4173C>A) c.3383C>A (p.Thr1128Asn) c.5297C>A (p.Thr1766Asn) c.3488-4173C>A (n.3488-4173C>A) c.5024C>A (p.Thr1675Asn) c.4478C>A (p.Thr1493Asn) c.4580-4173C>A (n.4580-4173C>A) c.4205C>A (p.Thr1402Asn) c.3761-4173C>A (n.3761-4173C>A) c.3656C>A (p.Thr1219Asn) c.5570C>A (p.Thr1857Asn) c.5294C>A (p.Thr1765Asn) | |
9 | g.115046515T>A | CA374630909 | TNC | c.318-4174A>T c.3215-4174A>T (n.3215-4174A>T) c.3931A>T (p.Thr1311Ser) c.1963A>T (p.Thr655Ser) c.619A>T (p.Thr207Ser) c.3978A>T c.5020A>T (p.Thr1674Ser) c.4474A>T (p.Thr1492Ser) c.4307-4174A>T (n.4307-4174A>T) n.338A>T n.253-4174A>T n.40-4174A>T c.707A>T c.4747A>T (p.Thr1583Ser) c.4034-4174A>T (n.4034-4174A>T) c.3382A>T (p.Thr1128Ser) c.5296A>T (p.Thr1766Ser) c.3488-4174A>T (n.3488-4174A>T) c.5023A>T (p.Thr1675Ser) c.4477A>T (p.Thr1493Ser) c.4580-4174A>T (n.4580-4174A>T) c.4204A>T (p.Thr1402Ser) c.3761-4174A>T (n.3761-4174A>T) c.3655A>T (p.Thr1219Ser) c.5569A>T (p.Thr1857Ser) c.5293A>T (p.Thr1765Ser) | |
9 | g.115046515T>C | CA374630911 | TNC | c.318-4174A>G c.3215-4174A>G (n.3215-4174A>G) c.3931A>G (p.Thr1311Ala) c.1963A>G (p.Thr655Ala) c.619A>G (p.Thr207Ala) c.3978A>G c.5020A>G (p.Thr1674Ala) c.4474A>G (p.Thr1492Ala) c.4307-4174A>G (n.4307-4174A>G) n.338A>G n.253-4174A>G n.40-4174A>G c.707A>G c.4747A>G (p.Thr1583Ala) c.4034-4174A>G (n.4034-4174A>G) c.3382A>G (p.Thr1128Ala) c.5296A>G (p.Thr1766Ala) c.3488-4174A>G (n.3488-4174A>G) c.5023A>G (p.Thr1675Ala) c.4477A>G (p.Thr1493Ala) c.4580-4174A>G (n.4580-4174A>G) c.4204A>G (p.Thr1402Ala) c.3761-4174A>G (n.3761-4174A>G) c.3655A>G (p.Thr1219Ala) c.5569A>G (p.Thr1857Ala) c.5293A>G (p.Thr1765Ala) | COSMIC |
9 | g.115046515T>G | CA374630907 | TNC | c.318-4174A>C c.3215-4174A>C (n.3215-4174A>C) c.3931A>C (p.Thr1311Pro) c.1963A>C (p.Thr655Pro) c.619A>C (p.Thr207Pro) c.3978A>C c.5020A>C (p.Thr1674Pro) c.4474A>C (p.Thr1492Pro) c.4307-4174A>C (n.4307-4174A>C) n.338A>C n.253-4174A>C n.40-4174A>C c.707A>C c.4747A>C (p.Thr1583Pro) c.4034-4174A>C (n.4034-4174A>C) c.3382A>C (p.Thr1128Pro) c.5296A>C (p.Thr1766Pro) c.3488-4174A>C (n.3488-4174A>C) c.5023A>C (p.Thr1675Pro) c.4477A>C (p.Thr1493Pro) c.4580-4174A>C (n.4580-4174A>C) c.4204A>C (p.Thr1402Pro) c.3761-4174A>C (n.3761-4174A>C) c.3655A>C (p.Thr1219Pro) c.5569A>C (p.Thr1857Pro) c.5293A>C (p.Thr1765Pro) | |
9 | g.115046516A= | CA1874118897 | TNC | c.318-4175T= c.3215-4175T= (n.3215-4175T=) c.3930T= (p.Arg1310=) c.1962T= (p.Arg654=) c.618T= (p.Arg206=) c.3977T= c.5019T= (p.Arg1673=) c.4473T= (p.Arg1491=) c.4307-4175T= (n.4307-4175T=) n.337T= n.253-4175T= n.40-4175T= c.706T= c.4746T= (p.Arg1582=) c.4034-4175T= (n.4034-4175T=) c.3381T= (p.Arg1127=) c.5295T= (p.Arg1765=) c.3488-4175T= (n.3488-4175T=) c.5022T= (p.Arg1674=) c.4476T= (p.Arg1492=) c.4580-4175T= (n.4580-4175T=) c.4203T= (p.Arg1401=) c.3761-4175T= (n.3761-4175T=) c.3654T= (p.Arg1218=) c.5568T= (p.Arg1856=) c.5292T= (p.Arg1764=) | |
9 | g.115046516A>C | CA466912431 | TNC | c.318-4175T>G c.3215-4175T>G (n.3215-4175T>G) c.3930T>G (p.Arg1310=) c.1962T>G (p.Arg654=) c.618T>G (p.Arg206=) c.3977T>G c.5019T>G (p.Arg1673=) c.4473T>G (p.Arg1491=) c.4307-4175T>G (n.4307-4175T>G) n.337T>G n.253-4175T>G n.40-4175T>G c.706T>G c.4746T>G (p.Arg1582=) c.4034-4175T>G (n.4034-4175T>G) c.3381T>G (p.Arg1127=) c.5295T>G (p.Arg1765=) c.3488-4175T>G (n.3488-4175T>G) c.5022T>G (p.Arg1674=) c.4476T>G (p.Arg1492=) c.4580-4175T>G (n.4580-4175T>G) c.4203T>G (p.Arg1401=) c.3761-4175T>G (n.3761-4175T>G) c.3654T>G (p.Arg1218=) c.5568T>G (p.Arg1856=) c.5292T>G (p.Arg1764=) | |
9 | g.115046516A>G | CA466912429 | TNC | c.318-4175T>C c.3215-4175T>C (n.3215-4175T>C) c.3930T>C (p.Arg1310=) c.1962T>C (p.Arg654=) c.618T>C (p.Arg206=) c.3977T>C c.5019T>C (p.Arg1673=) c.4473T>C (p.Arg1491=) c.4307-4175T>C (n.4307-4175T>C) n.337T>C n.253-4175T>C n.40-4175T>C c.706T>C c.4746T>C (p.Arg1582=) c.4034-4175T>C (n.4034-4175T>C) c.3381T>C (p.Arg1127=) c.5295T>C (p.Arg1765=) c.3488-4175T>C (n.3488-4175T>C) c.5022T>C (p.Arg1674=) c.4476T>C (p.Arg1492=) c.4580-4175T>C (n.4580-4175T>C) c.4203T>C (p.Arg1401=) c.3761-4175T>C (n.3761-4175T>C) c.3654T>C (p.Arg1218=) c.5568T>C (p.Arg1856=) c.5292T>C (p.Arg1764=) | gnomAD v4 |
9 | g.115046516A>T | CA466912430 | TNC | c.318-4175T>A c.3215-4175T>A (n.3215-4175T>A) c.3930T>A (p.Arg1310=) c.1962T>A (p.Arg654=) c.618T>A (p.Arg206=) c.3977T>A c.5019T>A (p.Arg1673=) c.4473T>A (p.Arg1491=) c.4307-4175T>A (n.4307-4175T>A) n.337T>A n.253-4175T>A n.40-4175T>A c.706T>A c.4746T>A (p.Arg1582=) c.4034-4175T>A (n.4034-4175T>A) c.3381T>A (p.Arg1127=) c.5295T>A (p.Arg1765=) c.3488-4175T>A (n.3488-4175T>A) c.5022T>A (p.Arg1674=) c.4476T>A (p.Arg1492=) c.4580-4175T>A (n.4580-4175T>A) c.4203T>A (p.Arg1401=) c.3761-4175T>A (n.3761-4175T>A) c.3654T>A (p.Arg1218=) c.5568T>A (p.Arg1856=) c.5292T>A (p.Arg1764=) | dbSNP |
9 | g.115046517C>A | CA374630915 | TNC | c.318-4176G>T c.3215-4176G>T (n.3215-4176G>T) c.3929G>T (p.Arg1310Leu) c.1961G>T (p.Arg654Leu) c.617G>T (p.Arg206Leu) c.3976G>T c.5018G>T (p.Arg1673Leu) c.4472G>T (p.Arg1491Leu) c.4307-4176G>T (n.4307-4176G>T) n.336G>T n.253-4176G>T n.40-4176G>T c.705G>T c.4745G>T (p.Arg1582Leu) c.4034-4176G>T (n.4034-4176G>T) c.3380G>T (p.Arg1127Leu) c.5294G>T (p.Arg1765Leu) c.3488-4176G>T (n.3488-4176G>T) c.5021G>T (p.Arg1674Leu) c.4475G>T (p.Arg1492Leu) c.4580-4176G>T (n.4580-4176G>T) c.4202G>T (p.Arg1401Leu) c.3761-4176G>T (n.3761-4176G>T) c.3653G>T (p.Arg1218Leu) c.5567G>T (p.Arg1856Leu) c.5291G>T (p.Arg1764Leu) | |
9 | g.115046517C= | CA1874118898 | TNC | c.318-4176G= c.3215-4176G= (n.3215-4176G=) c.3929G= (p.Arg1310=) c.1961G= (p.Arg654=) c.617G= (p.Arg206=) c.3976G= c.5018G= (p.Arg1673=) c.4472G= (p.Arg1491=) c.4307-4176G= (n.4307-4176G=) n.336G= n.253-4176G= n.40-4176G= c.705G= c.4745G= (p.Arg1582=) c.4034-4176G= (n.4034-4176G=) c.3380G= (p.Arg1127=) c.5294G= (p.Arg1765=) c.3488-4176G= (n.3488-4176G=) c.5021G= (p.Arg1674=) c.4475G= (p.Arg1492=) c.4580-4176G= (n.4580-4176G=) c.4202G= (p.Arg1401=) c.3761-4176G= (n.3761-4176G=) c.3653G= (p.Arg1218=) c.5567G= (p.Arg1856=) c.5291G= (p.Arg1764=) | |
9 | g.115046517C>G | CA374630913 | TNC | c.318-4176G>C c.3215-4176G>C (n.3215-4176G>C) c.3929G>C (p.Arg1310Pro) c.1961G>C (p.Arg654Pro) c.617G>C (p.Arg206Pro) c.3976G>C c.5018G>C (p.Arg1673Pro) c.4472G>C (p.Arg1491Pro) c.4307-4176G>C (n.4307-4176G>C) n.336G>C n.253-4176G>C n.40-4176G>C c.705G>C c.4745G>C (p.Arg1582Pro) c.4034-4176G>C (n.4034-4176G>C) c.3380G>C (p.Arg1127Pro) c.5294G>C (p.Arg1765Pro) c.3488-4176G>C (n.3488-4176G>C) c.5021G>C (p.Arg1674Pro) c.4475G>C (p.Arg1492Pro) c.4580-4176G>C (n.4580-4176G>C) c.4202G>C (p.Arg1401Pro) c.3761-4176G>C (n.3761-4176G>C) c.3653G>C (p.Arg1218Pro) c.5567G>C (p.Arg1856Pro) c.5291G>C (p.Arg1764Pro) | dbSNP |
9 | g.115046517C>T | CA5207771 | TNC | c.318-4176G>A c.3215-4176G>A (n.3215-4176G>A) c.3929G>A (p.Arg1310His) c.1961G>A (p.Arg654His) c.617G>A (p.Arg206His) c.3976G>A c.5018G>A (p.Arg1673His) c.4472G>A (p.Arg1491His) c.4307-4176G>A (n.4307-4176G>A) n.336G>A n.253-4176G>A n.40-4176G>A c.705G>A c.4745G>A (p.Arg1582His) c.4034-4176G>A (n.4034-4176G>A) c.3380G>A (p.Arg1127His) c.5294G>A (p.Arg1765His) c.3488-4176G>A (n.3488-4176G>A) c.5021G>A (p.Arg1674His) c.4475G>A (p.Arg1492His) c.4580-4176G>A (n.4580-4176G>A) c.4202G>A (p.Arg1401His) c.3761-4176G>A (n.3761-4176G>A) c.3653G>A (p.Arg1218His) c.5567G>A (p.Arg1856His) c.5291G>A (p.Arg1764His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.115046518G>A | CA198692602 | TNC | c.318-4177C>T c.3215-4177C>T (n.3215-4177C>T) c.3928C>T (p.Arg1310Cys) c.1960C>T (p.Arg654Cys) c.616C>T (p.Arg206Cys) c.3975C>T c.5017C>T (p.Arg1673Cys) c.4471C>T (p.Arg1491Cys) c.4307-4177C>T (n.4307-4177C>T) n.335C>T n.253-4177C>T n.40-4177C>T c.704C>T c.4744C>T (p.Arg1582Cys) c.4034-4177C>T (n.4034-4177C>T) c.3379C>T (p.Arg1127Cys) c.5293C>T (p.Arg1765Cys) c.3488-4177C>T (n.3488-4177C>T) c.5020C>T (p.Arg1674Cys) c.4474C>T (p.Arg1492Cys) c.4580-4177C>T (n.4580-4177C>T) c.4201C>T (p.Arg1401Cys) c.3761-4177C>T (n.3761-4177C>T) c.3652C>T (p.Arg1218Cys) c.5566C>T (p.Arg1856Cys) c.5290C>T (p.Arg1764Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.115046518G>C | CA374630917 | TNC | c.318-4177C>G c.3215-4177C>G (n.3215-4177C>G) c.3928C>G (p.Arg1310Gly) c.1960C>G (p.Arg654Gly) c.616C>G (p.Arg206Gly) c.3975C>G c.5017C>G (p.Arg1673Gly) c.4471C>G (p.Arg1491Gly) c.4307-4177C>G (n.4307-4177C>G) n.335C>G n.253-4177C>G n.40-4177C>G c.704C>G c.4744C>G (p.Arg1582Gly) c.4034-4177C>G (n.4034-4177C>G) c.3379C>G (p.Arg1127Gly) c.5293C>G (p.Arg1765Gly) c.3488-4177C>G (n.3488-4177C>G) c.5020C>G (p.Arg1674Gly) c.4474C>G (p.Arg1492Gly) c.4580-4177C>G (n.4580-4177C>G) c.4201C>G (p.Arg1401Gly) c.3761-4177C>G (n.3761-4177C>G) c.3652C>G (p.Arg1218Gly) c.5566C>G (p.Arg1856Gly) c.5290C>G (p.Arg1764Gly) | |
9 | g.115046518G= | CA1874118899 | TNC | c.318-4177C= c.3215-4177C= (n.3215-4177C=) c.3928C= (p.Arg1310=) c.1960C= (p.Arg654=) c.616C= (p.Arg206=) c.3975C= c.5017C= (p.Arg1673=) c.4471C= (p.Arg1491=) c.4307-4177C= (n.4307-4177C=) n.335C= n.253-4177C= n.40-4177C= c.704C= c.4744C= (p.Arg1582=) c.4034-4177C= (n.4034-4177C=) c.3379C= (p.Arg1127=) c.5293C= (p.Arg1765=) c.3488-4177C= (n.3488-4177C=) c.5020C= (p.Arg1674=) c.4474C= (p.Arg1492=) c.4580-4177C= (n.4580-4177C=) c.4201C= (p.Arg1401=) c.3761-4177C= (n.3761-4177C=) c.3652C= (p.Arg1218=) c.5566C= (p.Arg1856=) c.5290C= (p.Arg1764=) | |
9 | g.115046518G>T | CA374630919 | TNC | c.318-4177C>A c.3215-4177C>A (n.3215-4177C>A) c.3928C>A (p.Arg1310Ser) c.1960C>A (p.Arg654Ser) c.616C>A (p.Arg206Ser) c.3975C>A c.5017C>A (p.Arg1673Ser) c.4471C>A (p.Arg1491Ser) c.4307-4177C>A (n.4307-4177C>A) n.335C>A n.253-4177C>A n.40-4177C>A c.704C>A c.4744C>A (p.Arg1582Ser) c.4034-4177C>A (n.4034-4177C>A) c.3379C>A (p.Arg1127Ser) c.5293C>A (p.Arg1765Ser) c.3488-4177C>A (n.3488-4177C>A) c.5020C>A (p.Arg1674Ser) c.4474C>A (p.Arg1492Ser) c.4580-4177C>A (n.4580-4177C>A) c.4201C>A (p.Arg1401Ser) c.3761-4177C>A (n.3761-4177C>A) c.3652C>A (p.Arg1218Ser) c.5566C>A (p.Arg1856Ser) c.5290C>A (p.Arg1764Ser) | dbSNP gnomAD v4 |
9 | g.115046519T>A | CA374630921 | TNC | c.318-4178A>T c.3215-4178A>T (n.3215-4178A>T) c.3927A>T (p.Glu1309Asp) c.1959A>T (p.Glu653Asp) c.615A>T (p.Glu205Asp) c.3974A>T c.5016A>T (p.Glu1672Asp) c.4470A>T (p.Glu1490Asp) c.4307-4178A>T (n.4307-4178A>T) n.334A>T n.253-4178A>T n.40-4178A>T c.703A>T c.4743A>T (p.Glu1581Asp) c.4034-4178A>T (n.4034-4178A>T) c.3378A>T (p.Glu1126Asp) c.5292A>T (p.Glu1764Asp) c.3488-4178A>T (n.3488-4178A>T) c.5019A>T (p.Glu1673Asp) c.4473A>T (p.Glu1491Asp) c.4580-4178A>T (n.4580-4178A>T) c.4200A>T (p.Glu1400Asp) c.3761-4178A>T (n.3761-4178A>T) c.3651A>T (p.Glu1217Asp) c.5565A>T (p.Glu1855Asp) c.5289A>T (p.Glu1763Asp) | |
9 | g.115046519T>C | CA466912435 | TNC | c.318-4178A>G c.3215-4178A>G (n.3215-4178A>G) c.3927A>G (p.Glu1309=) c.1959A>G (p.Glu653=) c.615A>G (p.Glu205=) c.3974A>G c.5016A>G (p.Glu1672=) c.4470A>G (p.Glu1490=) c.4307-4178A>G (n.4307-4178A>G) n.334A>G n.253-4178A>G n.40-4178A>G c.703A>G c.4743A>G (p.Glu1581=) c.4034-4178A>G (n.4034-4178A>G) c.3378A>G (p.Glu1126=) c.5292A>G (p.Glu1764=) c.3488-4178A>G (n.3488-4178A>G) c.5019A>G (p.Glu1673=) c.4473A>G (p.Glu1491=) c.4580-4178A>G (n.4580-4178A>G) c.4200A>G (p.Glu1400=) c.3761-4178A>G (n.3761-4178A>G) c.3651A>G (p.Glu1217=) c.5565A>G (p.Glu1855=) c.5289A>G (p.Glu1763=) | |
9 | g.115046519T>G | CA374630922 | TNC | c.318-4178A>C c.3215-4178A>C (n.3215-4178A>C) c.3927A>C (p.Glu1309Asp) c.1959A>C (p.Glu653Asp) c.615A>C (p.Glu205Asp) c.3974A>C c.5016A>C (p.Glu1672Asp) c.4470A>C (p.Glu1490Asp) c.4307-4178A>C (n.4307-4178A>C) n.334A>C n.253-4178A>C n.40-4178A>C c.703A>C c.4743A>C (p.Glu1581Asp) c.4034-4178A>C (n.4034-4178A>C) c.3378A>C (p.Glu1126Asp) c.5292A>C (p.Glu1764Asp) c.3488-4178A>C (n.3488-4178A>C) c.5019A>C (p.Glu1673Asp) c.4473A>C (p.Glu1491Asp) c.4580-4178A>C (n.4580-4178A>C) c.4200A>C (p.Glu1400Asp) c.3761-4178A>C (n.3761-4178A>C) c.3651A>C (p.Glu1217Asp) c.5565A>C (p.Glu1855Asp) c.5289A>C (p.Glu1763Asp) | |
9 | g.115046520T>A | CA374630924 | TNC | c.318-4179A>T c.3215-4179A>T (n.3215-4179A>T) c.3926A>T (p.Glu1309Val) c.1958A>T (p.Glu653Val) c.614A>T (p.Glu205Val) c.3973A>T c.5015A>T (p.Glu1672Val) c.4469A>T (p.Glu1490Val) c.4307-4179A>T (n.4307-4179A>T) n.333A>T n.253-4179A>T n.40-4179A>T c.702A>T c.4742A>T (p.Glu1581Val) c.4034-4179A>T (n.4034-4179A>T) c.3377A>T (p.Glu1126Val) c.5291A>T (p.Glu1764Val) c.3488-4179A>T (n.3488-4179A>T) c.5018A>T (p.Glu1673Val) c.4472A>T (p.Glu1491Val) c.4580-4179A>T (n.4580-4179A>T) c.4199A>T (p.Glu1400Val) c.3761-4179A>T (n.3761-4179A>T) c.3650A>T (p.Glu1217Val) c.5564A>T (p.Glu1855Val) c.5288A>T (p.Glu1763Val) | |
9 | g.115046520T>C | CA374630925 | TNC | c.318-4179A>G c.3215-4179A>G (n.3215-4179A>G) c.3926A>G (p.Glu1309Gly) c.1958A>G (p.Glu653Gly) c.614A>G (p.Glu205Gly) c.3973A>G c.5015A>G (p.Glu1672Gly) c.4469A>G (p.Glu1490Gly) c.4307-4179A>G (n.4307-4179A>G) n.333A>G n.253-4179A>G n.40-4179A>G c.702A>G c.4742A>G (p.Glu1581Gly) c.4034-4179A>G (n.4034-4179A>G) c.3377A>G (p.Glu1126Gly) c.5291A>G (p.Glu1764Gly) c.3488-4179A>G (n.3488-4179A>G) c.5018A>G (p.Glu1673Gly) c.4472A>G (p.Glu1491Gly) c.4580-4179A>G (n.4580-4179A>G) c.4199A>G (p.Glu1400Gly) c.3761-4179A>G (n.3761-4179A>G) c.3650A>G (p.Glu1217Gly) c.5564A>G (p.Glu1855Gly) c.5288A>G (p.Glu1763Gly) | |
9 | g.115046520T>G | CA374630927 | TNC | c.318-4179A>C c.3215-4179A>C (n.3215-4179A>C) c.3926A>C (p.Glu1309Ala) c.1958A>C (p.Glu653Ala) c.614A>C (p.Glu205Ala) c.3973A>C c.5015A>C (p.Glu1672Ala) c.4469A>C (p.Glu1490Ala) c.4307-4179A>C (n.4307-4179A>C) n.333A>C n.253-4179A>C n.40-4179A>C c.702A>C c.4742A>C (p.Glu1581Ala) c.4034-4179A>C (n.4034-4179A>C) c.3377A>C (p.Glu1126Ala) c.5291A>C (p.Glu1764Ala) c.3488-4179A>C (n.3488-4179A>C) c.5018A>C (p.Glu1673Ala) c.4472A>C (p.Glu1491Ala) c.4580-4179A>C (n.4580-4179A>C) c.4199A>C (p.Glu1400Ala) c.3761-4179A>C (n.3761-4179A>C) c.3650A>C (p.Glu1217Ala) c.5564A>C (p.Glu1855Ala) c.5288A>C (p.Glu1763Ala) | |
9 | g.115046521del | CA2691393497 | TNC | c.318-4180del c.3215-4180del (n.3215-4180del) c.3925del (p.Glu1309AsnfsTer6) c.1957del (p.Glu653AsnfsTer6) c.613del (p.Glu205AsnfsTer6) c.3972del c.5014del (p.Glu1672AsnfsTer6) c.4468del (p.Glu1490AsnfsTer6) c.4307-4180del (n.4307-4180del) n.332del n.253-4180del n.40-4180del c.701del c.4741del (p.Glu1581AsnfsTer6) c.4034-4180del (n.4034-4180del) c.3376del (p.Glu1126AsnfsTer6) c.5290del (p.Glu1764AsnfsTer6) c.3488-4180del (n.3488-4180del) c.5017del (p.Glu1673AsnfsTer6) c.4471del (p.Glu1491AsnfsTer6) c.4580-4180del (n.4580-4180del) c.4198del (p.Glu1400AsnfsTer6) c.3761-4180del (n.3761-4180del) c.3649del (p.Glu1217AsnfsTer6) c.5563del (p.Glu1855AsnfsTer6) c.5287del (p.Glu1763AsnfsTer6) | gnomAD v4 |
9 | g.115046521C>A | CA374630929 | TNC | c.318-4180G>T c.3215-4180G>T (n.3215-4180G>T) c.3925G>T (p.Glu1309Ter) c.1957G>T (p.Glu653Ter) c.613G>T (p.Glu205Ter) c.3972G>T c.5014G>T (p.Glu1672Ter) c.4468G>T (p.Glu1490Ter) c.4307-4180G>T (n.4307-4180G>T) n.332G>T n.253-4180G>T n.40-4180G>T c.701G>T c.4741G>T (p.Glu1581Ter) c.4034-4180G>T (n.4034-4180G>T) c.3376G>T (p.Glu1126Ter) c.5290G>T (p.Glu1764Ter) c.3488-4180G>T (n.3488-4180G>T) c.5017G>T (p.Glu1673Ter) c.4471G>T (p.Glu1491Ter) c.4580-4180G>T (n.4580-4180G>T) c.4198G>T (p.Glu1400Ter) c.3761-4180G>T (n.3761-4180G>T) c.3649G>T (p.Glu1217Ter) c.5563G>T (p.Glu1855Ter) c.5287G>T (p.Glu1763Ter) | gnomAD v4 |
9 | g.115046521C= | CA1874118900 | TNC | c.318-4180G= c.3215-4180G= (n.3215-4180G=) c.3925G= (p.Glu1309=) c.1957G= (p.Glu653=) c.613G= (p.Glu205=) c.3972G= c.5014G= (p.Glu1672=) c.4468G= (p.Glu1490=) c.4307-4180G= (n.4307-4180G=) n.332G= n.253-4180G= n.40-4180G= c.701G= c.4741G= (p.Glu1581=) c.4034-4180G= (n.4034-4180G=) c.3376G= (p.Glu1126=) c.5290G= (p.Glu1764=) c.3488-4180G= (n.3488-4180G=) c.5017G= (p.Glu1673=) c.4471G= (p.Glu1491=) c.4580-4180G= (n.4580-4180G=) c.4198G= (p.Glu1400=) c.3761-4180G= (n.3761-4180G=) c.3649G= (p.Glu1217=) c.5563G= (p.Glu1855=) c.5287G= (p.Glu1763=) | |
9 | g.115046521C>G | CA374630931 | TNC | c.318-4180G>C c.3215-4180G>C (n.3215-4180G>C) c.3925G>C (p.Glu1309Gln) c.1957G>C (p.Glu653Gln) c.613G>C (p.Glu205Gln) c.3972G>C c.5014G>C (p.Glu1672Gln) c.4468G>C (p.Glu1490Gln) c.4307-4180G>C (n.4307-4180G>C) n.332G>C n.253-4180G>C n.40-4180G>C c.701G>C c.4741G>C (p.Glu1581Gln) c.4034-4180G>C (n.4034-4180G>C) c.3376G>C (p.Glu1126Gln) c.5290G>C (p.Glu1764Gln) c.3488-4180G>C (n.3488-4180G>C) c.5017G>C (p.Glu1673Gln) c.4471G>C (p.Glu1491Gln) c.4580-4180G>C (n.4580-4180G>C) c.4198G>C (p.Glu1400Gln) c.3761-4180G>C (n.3761-4180G>C) c.3649G>C (p.Glu1217Gln) c.5563G>C (p.Glu1855Gln) c.5287G>C (p.Glu1763Gln) | |
9 | g.115046521C>T | CA374630930 | TNC | c.318-4180G>A c.3215-4180G>A (n.3215-4180G>A) c.3925G>A (p.Glu1309Lys) c.1957G>A (p.Glu653Lys) c.613G>A (p.Glu205Lys) c.3972G>A c.5014G>A (p.Glu1672Lys) c.4468G>A (p.Glu1490Lys) c.4307-4180G>A (n.4307-4180G>A) n.332G>A n.253-4180G>A n.40-4180G>A c.701G>A c.4741G>A (p.Glu1581Lys) c.4034-4180G>A (n.4034-4180G>A) c.3376G>A (p.Glu1126Lys) c.5290G>A (p.Glu1764Lys) c.3488-4180G>A (n.3488-4180G>A) c.5017G>A (p.Glu1673Lys) c.4471G>A (p.Glu1491Lys) c.4580-4180G>A (n.4580-4180G>A) c.4198G>A (p.Glu1400Lys) c.3761-4180G>A (n.3761-4180G>A) c.3649G>A (p.Glu1217Lys) c.5563G>A (p.Glu1855Lys) c.5287G>A (p.Glu1763Lys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
9 | g.115046522G>A | CA466912437 | TNC | c.318-4181C>T c.3215-4181C>T (n.3215-4181C>T) c.3924C>T (p.Pro1308=) c.1956C>T (p.Pro652=) c.612C>T (p.Pro204=) c.3971C>T c.5013C>T (p.Pro1671=) c.4467C>T (p.Pro1489=) c.4307-4181C>T (n.4307-4181C>T) n.331C>T n.253-4181C>T n.40-4181C>T c.700C>T c.4740C>T (p.Pro1580=) c.4034-4181C>T (n.4034-4181C>T) c.3375C>T (p.Pro1125=) c.5289C>T (p.Pro1763=) c.3488-4181C>T (n.3488-4181C>T) c.5016C>T (p.Pro1672=) c.4470C>T (p.Pro1490=) c.4580-4181C>T (n.4580-4181C>T) c.4197C>T (p.Pro1399=) c.3761-4181C>T (n.3761-4181C>T) c.3648C>T (p.Pro1216=) c.5562C>T (p.Pro1854=) c.5286C>T (p.Pro1762=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
9 | g.115046522G>C | CA466912438 | TNC | c.318-4181C>G c.3215-4181C>G (n.3215-4181C>G) c.3924C>G (p.Pro1308=) c.1956C>G (p.Pro652=) c.612C>G (p.Pro204=) c.3971C>G c.5013C>G (p.Pro1671=) c.4467C>G (p.Pro1489=) c.4307-4181C>G (n.4307-4181C>G) n.331C>G n.253-4181C>G n.40-4181C>G c.700C>G c.4740C>G (p.Pro1580=) c.4034-4181C>G (n.4034-4181C>G) c.3375C>G (p.Pro1125=) c.5289C>G (p.Pro1763=) c.3488-4181C>G (n.3488-4181C>G) c.5016C>G (p.Pro1672=) c.4470C>G (p.Pro1490=) c.4580-4181C>G (n.4580-4181C>G) c.4197C>G (p.Pro1399=) c.3761-4181C>G (n.3761-4181C>G) c.3648C>G (p.Pro1216=) c.5562C>G (p.Pro1854=) c.5286C>G (p.Pro1762=) | gnomAD v4 |
9 | g.115046522G= | CA1874118901 | TNC | c.318-4181C= c.3215-4181C= (n.3215-4181C=) c.3924C= (p.Pro1308=) c.1956C= (p.Pro652=) c.612C= (p.Pro204=) c.3971C= c.5013C= (p.Pro1671=) c.4467C= (p.Pro1489=) c.4307-4181C= (n.4307-4181C=) n.331C= n.253-4181C= n.40-4181C= c.700C= c.4740C= (p.Pro1580=) c.4034-4181C= (n.4034-4181C=) c.3375C= (p.Pro1125=) c.5289C= (p.Pro1763=) c.3488-4181C= (n.3488-4181C=) c.5016C= (p.Pro1672=) c.4470C= (p.Pro1490=) c.4580-4181C= (n.4580-4181C=) c.4197C= (p.Pro1399=) c.3761-4181C= (n.3761-4181C=) c.3648C= (p.Pro1216=) c.5562C= (p.Pro1854=) c.5286C= (p.Pro1762=) | |
9 | g.115046522G>T | CA5207772 | TNC | c.318-4181C>A c.3215-4181C>A (n.3215-4181C>A) c.3924C>A (p.Pro1308=) c.1956C>A (p.Pro652=) c.612C>A (p.Pro204=) c.3971C>A c.5013C>A (p.Pro1671=) c.4467C>A (p.Pro1489=) c.4307-4181C>A (n.4307-4181C>A) n.331C>A n.253-4181C>A n.40-4181C>A c.700C>A c.4740C>A (p.Pro1580=) c.4034-4181C>A (n.4034-4181C>A) c.3375C>A (p.Pro1125=) c.5289C>A (p.Pro1763=) c.3488-4181C>A (n.3488-4181C>A) c.5016C>A (p.Pro1672=) c.4470C>A (p.Pro1490=) c.4580-4181C>A (n.4580-4181C>A) c.4197C>A (p.Pro1399=) c.3761-4181C>A (n.3761-4181C>A) c.3648C>A (p.Pro1216=) c.5562C>A (p.Pro1854=) c.5286C>A (p.Pro1762=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.115046526dup | CA658773192 | TNC | c.318-4181dup c.3215-4181dup (n.3215-4181dup) c.3924dup (p.Glu1309ArgfsTer14) c.1956dup (p.Glu653ArgfsTer14) c.612dup (p.Glu205ArgfsTer14) c.3971dup c.5013dup (p.Glu1672ArgfsTer14) c.4467dup (p.Glu1490ArgfsTer14) c.4307-4181dup (n.4307-4181dup) n.331dup n.253-4181dup n.40-4181dup c.700dup c.4740dup (p.Glu1581ArgfsTer14) c.4034-4181dup (n.4034-4181dup) c.3375dup (p.Glu1126ArgfsTer14) c.5289dup (p.Glu1764ArgfsTer14) c.3488-4181dup (n.3488-4181dup) c.5016dup (p.Glu1673ArgfsTer14) c.4470dup (p.Glu1491ArgfsTer14) c.4580-4181dup (n.4580-4181dup) c.4197dup (p.Glu1400ArgfsTer14) c.3761-4181dup (n.3761-4181dup) c.3648dup (p.Glu1217ArgfsTer14) c.5562dup (p.Glu1855ArgfsTer14) c.5286dup (p.Glu1763ArgfsTer14) | |
9 | g.115046523G>A | CA374630934 | TNC | c.318-4182C>T c.3215-4182C>T (n.3215-4182C>T) c.3923C>T (p.Pro1308Leu) c.1955C>T (p.Pro652Leu) c.611C>T (p.Pro204Leu) c.3970C>T c.5012C>T (p.Pro1671Leu) c.4466C>T (p.Pro1489Leu) c.4307-4182C>T (n.4307-4182C>T) n.330C>T n.253-4182C>T n.40-4182C>T c.699C>T c.4739C>T (p.Pro1580Leu) c.4034-4182C>T (n.4034-4182C>T) c.3374C>T (p.Pro1125Leu) c.5288C>T (p.Pro1763Leu) c.3488-4182C>T (n.3488-4182C>T) c.5015C>T (p.Pro1672Leu) c.4469C>T (p.Pro1490Leu) c.4580-4182C>T (n.4580-4182C>T) c.4196C>T (p.Pro1399Leu) c.3761-4182C>T (n.3761-4182C>T) c.3647C>T (p.Pro1216Leu) c.5561C>T (p.Pro1854Leu) c.5285C>T (p.Pro1762Leu) | |
9 | g.115046523G>C | CA374630935 | TNC | c.318-4182C>G c.3215-4182C>G (n.3215-4182C>G) c.3923C>G (p.Pro1308Arg) c.1955C>G (p.Pro652Arg) c.611C>G (p.Pro204Arg) c.3970C>G c.5012C>G (p.Pro1671Arg) c.4466C>G (p.Pro1489Arg) c.4307-4182C>G (n.4307-4182C>G) n.330C>G n.253-4182C>G n.40-4182C>G c.699C>G c.4739C>G (p.Pro1580Arg) c.4034-4182C>G (n.4034-4182C>G) c.3374C>G (p.Pro1125Arg) c.5288C>G (p.Pro1763Arg) c.3488-4182C>G (n.3488-4182C>G) c.5015C>G (p.Pro1672Arg) c.4469C>G (p.Pro1490Arg) c.4580-4182C>G (n.4580-4182C>G) c.4196C>G (p.Pro1399Arg) c.3761-4182C>G (n.3761-4182C>G) c.3647C>G (p.Pro1216Arg) c.5561C>G (p.Pro1854Arg) c.5285C>G (p.Pro1762Arg) | |
9 | g.115046523G>T | CA374630937 | TNC | c.318-4182C>A c.3215-4182C>A (n.3215-4182C>A) c.3923C>A (p.Pro1308His) c.1955C>A (p.Pro652His) c.611C>A (p.Pro204His) c.3970C>A c.5012C>A (p.Pro1671His) c.4466C>A (p.Pro1489His) c.4307-4182C>A (n.4307-4182C>A) n.330C>A n.253-4182C>A n.40-4182C>A c.699C>A c.4739C>A (p.Pro1580His) c.4034-4182C>A (n.4034-4182C>A) c.3374C>A (p.Pro1125His) c.5288C>A (p.Pro1763His) c.3488-4182C>A (n.3488-4182C>A) c.5015C>A (p.Pro1672His) c.4469C>A (p.Pro1490His) c.4580-4182C>A (n.4580-4182C>A) c.4196C>A (p.Pro1399His) c.3761-4182C>A (n.3761-4182C>A) c.3647C>A (p.Pro1216His) c.5561C>A (p.Pro1854His) c.5285C>A (p.Pro1762His) | |
9 | g.115046524G>A | CA374630938 | TNC | c.318-4183C>T c.3215-4183C>T (n.3215-4183C>T) c.3922C>T (p.Pro1308Ser) c.1954C>T (p.Pro652Ser) c.610C>T (p.Pro204Ser) c.3969C>T c.5011C>T (p.Pro1671Ser) c.4465C>T (p.Pro1489Ser) c.4307-4183C>T (n.4307-4183C>T) n.329C>T n.253-4183C>T n.40-4183C>T c.698C>T c.4738C>T (p.Pro1580Ser) c.4034-4183C>T (n.4034-4183C>T) c.3373C>T (p.Pro1125Ser) c.5287C>T (p.Pro1763Ser) c.3488-4183C>T (n.3488-4183C>T) c.5014C>T (p.Pro1672Ser) c.4468C>T (p.Pro1490Ser) c.4580-4183C>T (n.4580-4183C>T) c.4195C>T (p.Pro1399Ser) c.3761-4183C>T (n.3761-4183C>T) c.3646C>T (p.Pro1216Ser) c.5560C>T (p.Pro1854Ser) c.5284C>T (p.Pro1762Ser) | gnomAD v4 |
9 | g.115046524G>C | CA374630942 | TNC | c.318-4183C>G c.3215-4183C>G (n.3215-4183C>G) c.3922C>G (p.Pro1308Ala) c.1954C>G (p.Pro652Ala) c.610C>G (p.Pro204Ala) c.3969C>G c.5011C>G (p.Pro1671Ala) c.4465C>G (p.Pro1489Ala) c.4307-4183C>G (n.4307-4183C>G) n.329C>G n.253-4183C>G n.40-4183C>G c.698C>G c.4738C>G (p.Pro1580Ala) c.4034-4183C>G (n.4034-4183C>G) c.3373C>G (p.Pro1125Ala) c.5287C>G (p.Pro1763Ala) c.3488-4183C>G (n.3488-4183C>G) c.5014C>G (p.Pro1672Ala) c.4468C>G (p.Pro1490Ala) c.4580-4183C>G (n.4580-4183C>G) c.4195C>G (p.Pro1399Ala) c.3761-4183C>G (n.3761-4183C>G) c.3646C>G (p.Pro1216Ala) c.5560C>G (p.Pro1854Ala) c.5284C>G (p.Pro1762Ala) | |
9 | g.115046524G>T | CA374630940 | TNC | c.318-4183C>A c.3215-4183C>A (n.3215-4183C>A) c.3922C>A (p.Pro1308Thr) c.1954C>A (p.Pro652Thr) c.610C>A (p.Pro204Thr) c.3969C>A c.5011C>A (p.Pro1671Thr) c.4465C>A (p.Pro1489Thr) c.4307-4183C>A (n.4307-4183C>A) n.329C>A n.253-4183C>A n.40-4183C>A c.698C>A c.4738C>A (p.Pro1580Thr) c.4034-4183C>A (n.4034-4183C>A) c.3373C>A (p.Pro1125Thr) c.5287C>A (p.Pro1763Thr) c.3488-4183C>A (n.3488-4183C>A) c.5014C>A (p.Pro1672Thr) c.4468C>A (p.Pro1490Thr) c.4580-4183C>A (n.4580-4183C>A) c.4195C>A (p.Pro1399Thr) c.3761-4183C>A (n.3761-4183C>A) c.3646C>A (p.Pro1216Thr) c.5560C>A (p.Pro1854Thr) c.5284C>A (p.Pro1762Thr) | |
9 | g.115046525G>A | CA466912440 | TNC | c.318-4184C>T c.3215-4184C>T (n.3215-4184C>T) c.3921C>T (p.Ala1307=) c.1953C>T (p.Ala651=) c.609C>T (p.Ala203=) c.3968C>T c.5010C>T (p.Ala1670=) c.4464C>T (p.Ala1488=) c.4307-4184C>T (n.4307-4184C>T) n.328C>T n.253-4184C>T n.40-4184C>T c.697C>T c.4737C>T (p.Ala1579=) c.4034-4184C>T (n.4034-4184C>T) c.3372C>T (p.Ala1124=) c.5286C>T (p.Ala1762=) c.3488-4184C>T (n.3488-4184C>T) c.5013C>T (p.Ala1671=) c.4467C>T (p.Ala1489=) c.4580-4184C>T (n.4580-4184C>T) c.4194C>T (p.Ala1398=) c.3761-4184C>T (n.3761-4184C>T) c.3645C>T (p.Ala1215=) c.5559C>T (p.Ala1853=) c.5283C>T (p.Ala1761=) | gnomAD v4 |
9 | g.115046525G>C | CA466912441 | TNC | c.318-4184C>G c.3215-4184C>G (n.3215-4184C>G) c.3921C>G (p.Ala1307=) c.1953C>G (p.Ala651=) c.609C>G (p.Ala203=) c.3968C>G c.5010C>G (p.Ala1670=) c.4464C>G (p.Ala1488=) c.4307-4184C>G (n.4307-4184C>G) n.328C>G n.253-4184C>G n.40-4184C>G c.697C>G c.4737C>G (p.Ala1579=) c.4034-4184C>G (n.4034-4184C>G) c.3372C>G (p.Ala1124=) c.5286C>G (p.Ala1762=) c.3488-4184C>G (n.3488-4184C>G) c.5013C>G (p.Ala1671=) c.4467C>G (p.Ala1489=) c.4580-4184C>G (n.4580-4184C>G) c.4194C>G (p.Ala1398=) c.3761-4184C>G (n.3761-4184C>G) c.3645C>G (p.Ala1215=) c.5559C>G (p.Ala1853=) c.5283C>G (p.Ala1761=) | |
9 | g.115046525G>T | CA466912442 | TNC | c.318-4184C>A c.3215-4184C>A (n.3215-4184C>A) c.3921C>A (p.Ala1307=) c.1953C>A (p.Ala651=) c.609C>A (p.Ala203=) c.3968C>A c.5010C>A (p.Ala1670=) c.4464C>A (p.Ala1488=) c.4307-4184C>A (n.4307-4184C>A) n.328C>A n.253-4184C>A n.40-4184C>A c.697C>A c.4737C>A (p.Ala1579=) c.4034-4184C>A (n.4034-4184C>A) c.3372C>A (p.Ala1124=) c.5286C>A (p.Ala1762=) c.3488-4184C>A (n.3488-4184C>A) c.5013C>A (p.Ala1671=) c.4467C>A (p.Ala1489=) c.4580-4184C>A (n.4580-4184C>A) c.4194C>A (p.Ala1398=) c.3761-4184C>A (n.3761-4184C>A) c.3645C>A (p.Ala1215=) c.5559C>A (p.Ala1853=) c.5283C>A (p.Ala1761=) | |
9 | g.115046526G>A | CA374630944 | TNC | c.318-4185C>T c.3215-4185C>T (n.3215-4185C>T) c.3920C>T (p.Ala1307Val) c.1952C>T (p.Ala651Val) c.608C>T (p.Ala203Val) c.3967C>T c.5009C>T (p.Ala1670Val) c.4463C>T (p.Ala1488Val) c.4307-4185C>T (n.4307-4185C>T) n.327C>T n.253-4185C>T n.40-4185C>T c.696C>T c.4736C>T (p.Ala1579Val) c.4034-4185C>T (n.4034-4185C>T) c.3371C>T (p.Ala1124Val) c.5285C>T (p.Ala1762Val) c.3488-4185C>T (n.3488-4185C>T) c.5012C>T (p.Ala1671Val) c.4466C>T (p.Ala1489Val) c.4580-4185C>T (n.4580-4185C>T) c.4193C>T (p.Ala1398Val) c.3761-4185C>T (n.3761-4185C>T) c.3644C>T (p.Ala1215Val) c.5558C>T (p.Ala1853Val) c.5282C>T (p.Ala1761Val) | dbSNP gnomAD v4 |
9 | g.115046526G>C | CA374630945 | TNC | c.318-4185C>G c.3215-4185C>G (n.3215-4185C>G) c.3920C>G (p.Ala1307Gly) c.1952C>G (p.Ala651Gly) c.608C>G (p.Ala203Gly) c.3967C>G c.5009C>G (p.Ala1670Gly) c.4463C>G (p.Ala1488Gly) c.4307-4185C>G (n.4307-4185C>G) n.327C>G n.253-4185C>G n.40-4185C>G c.696C>G c.4736C>G (p.Ala1579Gly) c.4034-4185C>G (n.4034-4185C>G) c.3371C>G (p.Ala1124Gly) c.5285C>G (p.Ala1762Gly) c.3488-4185C>G (n.3488-4185C>G) c.5012C>G (p.Ala1671Gly) c.4466C>G (p.Ala1489Gly) c.4580-4185C>G (n.4580-4185C>G) c.4193C>G (p.Ala1398Gly) c.3761-4185C>G (n.3761-4185C>G) c.3644C>G (p.Ala1215Gly) c.5558C>G (p.Ala1853Gly) c.5282C>G (p.Ala1761Gly) | |
9 | g.115046526G= | CA1874118902 | TNC | c.318-4185C= c.3215-4185C= (n.3215-4185C=) c.3920C= (p.Ala1307=) c.1952C= (p.Ala651=) c.608C= (p.Ala203=) c.3967C= c.5009C= (p.Ala1670=) c.4463C= (p.Ala1488=) c.4307-4185C= (n.4307-4185C=) n.327C= n.253-4185C= n.40-4185C= c.696C= c.4736C= (p.Ala1579=) c.4034-4185C= (n.4034-4185C=) c.3371C= (p.Ala1124=) c.5285C= (p.Ala1762=) c.3488-4185C= (n.3488-4185C=) c.5012C= (p.Ala1671=) c.4466C= (p.Ala1489=) c.4580-4185C= (n.4580-4185C=) c.4193C= (p.Ala1398=) c.3761-4185C= (n.3761-4185C=) c.3644C= (p.Ala1215=) c.5558C= (p.Ala1853=) c.5282C= (p.Ala1761=) | |
9 | g.115046526G>T | CA374630946 | TNC | c.318-4185C>A c.3215-4185C>A (n.3215-4185C>A) c.3920C>A (p.Ala1307Asp) c.1952C>A (p.Ala651Asp) c.608C>A (p.Ala203Asp) c.3967C>A c.5009C>A (p.Ala1670Asp) c.4463C>A (p.Ala1488Asp) c.4307-4185C>A (n.4307-4185C>A) n.327C>A n.253-4185C>A n.40-4185C>A c.696C>A c.4736C>A (p.Ala1579Asp) c.4034-4185C>A (n.4034-4185C>A) c.3371C>A (p.Ala1124Asp) c.5285C>A (p.Ala1762Asp) c.3488-4185C>A (n.3488-4185C>A) c.5012C>A (p.Ala1671Asp) c.4466C>A (p.Ala1489Asp) c.4580-4185C>A (n.4580-4185C>A) c.4193C>A (p.Ala1398Asp) c.3761-4185C>A (n.3761-4185C>A) c.3644C>A (p.Ala1215Asp) c.5558C>A (p.Ala1853Asp) c.5282C>A (p.Ala1761Asp) | |
9 | g.115046527C>A | CA374630948 | TNC | c.318-4186G>T c.3215-4186G>T (n.3215-4186G>T) c.3919G>T (p.Ala1307Ser) c.1951G>T (p.Ala651Ser) c.607G>T (p.Ala203Ser) c.3966G>T c.5008G>T (p.Ala1670Ser) c.4462G>T (p.Ala1488Ser) c.4307-4186G>T (n.4307-4186G>T) n.326G>T n.253-4186G>T n.40-4186G>T c.695G>T c.4735G>T (p.Ala1579Ser) c.4034-4186G>T (n.4034-4186G>T) c.3370G>T (p.Ala1124Ser) c.5284G>T (p.Ala1762Ser) c.3488-4186G>T (n.3488-4186G>T) c.5011G>T (p.Ala1671Ser) c.4465G>T (p.Ala1489Ser) c.4580-4186G>T (n.4580-4186G>T) c.4192G>T (p.Ala1398Ser) c.3761-4186G>T (n.3761-4186G>T) c.3643G>T (p.Ala1215Ser) c.5557G>T (p.Ala1853Ser) c.5281G>T (p.Ala1761Ser) | |
9 | g.115046527C= | CA1874118903 | TNC | c.318-4186G= c.3215-4186G= (n.3215-4186G=) c.3919G= (p.Ala1307=) c.1951G= (p.Ala651=) c.607G= (p.Ala203=) c.3966G= c.5008G= (p.Ala1670=) c.4462G= (p.Ala1488=) c.4307-4186G= (n.4307-4186G=) n.326G= n.253-4186G= n.40-4186G= c.695G= c.4735G= (p.Ala1579=) c.4034-4186G= (n.4034-4186G=) c.3370G= (p.Ala1124=) c.5284G= (p.Ala1762=) c.3488-4186G= (n.3488-4186G=) c.5011G= (p.Ala1671=) c.4465G= (p.Ala1489=) c.4580-4186G= (n.4580-4186G=) c.4192G= (p.Ala1398=) c.3761-4186G= (n.3761-4186G=) c.3643G= (p.Ala1215=) c.5557G= (p.Ala1853=) c.5281G= (p.Ala1761=) | |
9 | g.115046527C>G | CA374630950 | TNC | c.318-4186G>C c.3215-4186G>C (n.3215-4186G>C) c.3919G>C (p.Ala1307Pro) c.1951G>C (p.Ala651Pro) c.607G>C (p.Ala203Pro) c.3966G>C c.5008G>C (p.Ala1670Pro) c.4462G>C (p.Ala1488Pro) c.4307-4186G>C (n.4307-4186G>C) n.326G>C n.253-4186G>C n.40-4186G>C c.695G>C c.4735G>C (p.Ala1579Pro) c.4034-4186G>C (n.4034-4186G>C) c.3370G>C (p.Ala1124Pro) c.5284G>C (p.Ala1762Pro) c.3488-4186G>C (n.3488-4186G>C) c.5011G>C (p.Ala1671Pro) c.4465G>C (p.Ala1489Pro) c.4580-4186G>C (n.4580-4186G>C) c.4192G>C (p.Ala1398Pro) c.3761-4186G>C (n.3761-4186G>C) c.3643G>C (p.Ala1215Pro) c.5557G>C (p.Ala1853Pro) c.5281G>C (p.Ala1761Pro) | |
9 | g.115046527C>T | CA5207773 | TNC | c.318-4186G>A c.3215-4186G>A (n.3215-4186G>A) c.3919G>A (p.Ala1307Thr) c.1951G>A (p.Ala651Thr) c.607G>A (p.Ala203Thr) c.3966G>A c.5008G>A (p.Ala1670Thr) c.4462G>A (p.Ala1488Thr) c.4307-4186G>A (n.4307-4186G>A) n.326G>A n.253-4186G>A n.40-4186G>A c.695G>A c.4735G>A (p.Ala1579Thr) c.4034-4186G>A (n.4034-4186G>A) c.3370G>A (p.Ala1124Thr) c.5284G>A (p.Ala1762Thr) c.3488-4186G>A (n.3488-4186G>A) c.5011G>A (p.Ala1671Thr) c.4465G>A (p.Ala1489Thr) c.4580-4186G>A (n.4580-4186G>A) c.4192G>A (p.Ala1398Thr) c.3761-4186G>A (n.3761-4186G>A) c.3643G>A (p.Ala1215Thr) c.5557G>A (p.Ala1853Thr) c.5281G>A (p.Ala1761Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.115046528A>C | CA466912444 | TNC | c.318-4187T>G c.3215-4187T>G (n.3215-4187T>G) c.3918T>G (p.Leu1306=) c.1950T>G (p.Leu650=) c.606T>G (p.Leu202=) c.3965T>G c.5007T>G (p.Leu1669=) c.4461T>G (p.Leu1487=) c.4307-4187T>G (n.4307-4187T>G) n.325T>G n.253-4187T>G n.40-4187T>G c.694T>G c.4734T>G (p.Leu1578=) c.4034-4187T>G (n.4034-4187T>G) c.3369T>G (p.Leu1123=) c.5283T>G (p.Leu1761=) c.3488-4187T>G (n.3488-4187T>G) c.5010T>G (p.Leu1670=) c.4464T>G (p.Leu1488=) c.4580-4187T>G (n.4580-4187T>G) c.4191T>G (p.Leu1397=) c.3761-4187T>G (n.3761-4187T>G) c.3642T>G (p.Leu1214=) c.5556T>G (p.Leu1852=) c.5280T>G (p.Leu1760=) | |
9 | g.115046528A>G | CA466912445 | TNC | c.318-4187T>C c.3215-4187T>C (n.3215-4187T>C) c.3918T>C (p.Leu1306=) c.1950T>C (p.Leu650=) c.606T>C (p.Leu202=) c.3965T>C c.5007T>C (p.Leu1669=) c.4461T>C (p.Leu1487=) c.4307-4187T>C (n.4307-4187T>C) n.325T>C n.253-4187T>C n.40-4187T>C c.694T>C c.4734T>C (p.Leu1578=) c.4034-4187T>C (n.4034-4187T>C) c.3369T>C (p.Leu1123=) c.5283T>C (p.Leu1761=) c.3488-4187T>C (n.3488-4187T>C) c.5010T>C (p.Leu1670=) c.4464T>C (p.Leu1488=) c.4580-4187T>C (n.4580-4187T>C) c.4191T>C (p.Leu1397=) c.3761-4187T>C (n.3761-4187T>C) c.3642T>C (p.Leu1214=) c.5556T>C (p.Leu1852=) c.5280T>C (p.Leu1760=) | |
9 | g.115046528A>T | CA466912446 | TNC | c.318-4187T>A c.3215-4187T>A (n.3215-4187T>A) c.3918T>A (p.Leu1306=) c.1950T>A (p.Leu650=) c.606T>A (p.Leu202=) c.3965T>A c.5007T>A (p.Leu1669=) c.4461T>A (p.Leu1487=) c.4307-4187T>A (n.4307-4187T>A) n.325T>A n.253-4187T>A n.40-4187T>A c.694T>A c.4734T>A (p.Leu1578=) c.4034-4187T>A (n.4034-4187T>A) c.3369T>A (p.Leu1123=) c.5283T>A (p.Leu1761=) c.3488-4187T>A (n.3488-4187T>A) c.5010T>A (p.Leu1670=) c.4464T>A (p.Leu1488=) c.4580-4187T>A (n.4580-4187T>A) c.4191T>A (p.Leu1397=) c.3761-4187T>A (n.3761-4187T>A) c.3642T>A (p.Leu1214=) c.5556T>A (p.Leu1852=) c.5280T>A (p.Leu1760=) | |
9 | g.115046529A>C | CA374630952 | TNC | c.318-4188T>G c.3215-4188T>G (n.3215-4188T>G) c.3917T>G (p.Leu1306Arg) c.1949T>G (p.Leu650Arg) c.605T>G (p.Leu202Arg) c.3964T>G c.5006T>G (p.Leu1669Arg) c.4460T>G (p.Leu1487Arg) c.4307-4188T>G (n.4307-4188T>G) n.324T>G n.253-4188T>G n.40-4188T>G c.693T>G c.4733T>G (p.Leu1578Arg) c.4034-4188T>G (n.4034-4188T>G) c.3368T>G (p.Leu1123Arg) c.5282T>G (p.Leu1761Arg) c.3488-4188T>G (n.3488-4188T>G) c.5009T>G (p.Leu1670Arg) c.4463T>G (p.Leu1488Arg) c.4580-4188T>G (n.4580-4188T>G) c.4190T>G (p.Leu1397Arg) c.3761-4188T>G (n.3761-4188T>G) c.3641T>G (p.Leu1214Arg) c.5555T>G (p.Leu1852Arg) c.5279T>G (p.Leu1760Arg) | |
9 | g.115046529A>G | CA374630954 | TNC | c.318-4188T>C c.3215-4188T>C (n.3215-4188T>C) c.3917T>C (p.Leu1306Pro) c.1949T>C (p.Leu650Pro) c.605T>C (p.Leu202Pro) c.3964T>C c.5006T>C (p.Leu1669Pro) c.4460T>C (p.Leu1487Pro) c.4307-4188T>C (n.4307-4188T>C) n.324T>C n.253-4188T>C n.40-4188T>C c.693T>C c.4733T>C (p.Leu1578Pro) c.4034-4188T>C (n.4034-4188T>C) c.3368T>C (p.Leu1123Pro) c.5282T>C (p.Leu1761Pro) c.3488-4188T>C (n.3488-4188T>C) c.5009T>C (p.Leu1670Pro) c.4463T>C (p.Leu1488Pro) c.4580-4188T>C (n.4580-4188T>C) c.4190T>C (p.Leu1397Pro) c.3761-4188T>C (n.3761-4188T>C) c.3641T>C (p.Leu1214Pro) c.5555T>C (p.Leu1852Pro) c.5279T>C (p.Leu1760Pro) | |
9 | g.115046529A>T | CA374630955 | TNC | c.318-4188T>A c.3215-4188T>A (n.3215-4188T>A) c.3917T>A (p.Leu1306His) c.1949T>A (p.Leu650His) c.605T>A (p.Leu202His) c.3964T>A c.5006T>A (p.Leu1669His) c.4460T>A (p.Leu1487His) c.4307-4188T>A (n.4307-4188T>A) n.324T>A n.253-4188T>A n.40-4188T>A c.693T>A c.4733T>A (p.Leu1578His) c.4034-4188T>A (n.4034-4188T>A) c.3368T>A (p.Leu1123His) c.5282T>A (p.Leu1761His) c.3488-4188T>A (n.3488-4188T>A) c.5009T>A (p.Leu1670His) c.4463T>A (p.Leu1488His) c.4580-4188T>A (n.4580-4188T>A) c.4190T>A (p.Leu1397His) c.3761-4188T>A (n.3761-4188T>A) c.3641T>A (p.Leu1214His) c.5555T>A (p.Leu1852His) c.5279T>A (p.Leu1760His) | |
9 | g.115046530G>A | CA374630957 | TNC | c.318-4189C>T c.3215-4189C>T (n.3215-4189C>T) c.3916C>T (p.Leu1306Phe) c.1948C>T (p.Leu650Phe) c.604C>T (p.Leu202Phe) c.3963C>T c.5005C>T (p.Leu1669Phe) c.4459C>T (p.Leu1487Phe) c.4307-4189C>T (n.4307-4189C>T) n.323C>T n.253-4189C>T n.40-4189C>T c.692C>T c.4732C>T (p.Leu1578Phe) c.4034-4189C>T (n.4034-4189C>T) c.3367C>T (p.Leu1123Phe) c.5281C>T (p.Leu1761Phe) c.3488-4189C>T (n.3488-4189C>T) c.5008C>T (p.Leu1670Phe) c.4462C>T (p.Leu1488Phe) c.4580-4189C>T (n.4580-4189C>T) c.4189C>T (p.Leu1397Phe) c.3761-4189C>T (n.3761-4189C>T) c.3640C>T (p.Leu1214Phe) c.5554C>T (p.Leu1852Phe) c.5278C>T (p.Leu1760Phe) | |
9 | g.115046530G>C | CA374630959 | TNC | c.318-4189C>G c.3215-4189C>G (n.3215-4189C>G) c.3916C>G (p.Leu1306Val) c.1948C>G (p.Leu650Val) c.604C>G (p.Leu202Val) c.3963C>G c.5005C>G (p.Leu1669Val) c.4459C>G (p.Leu1487Val) c.4307-4189C>G (n.4307-4189C>G) n.323C>G n.253-4189C>G n.40-4189C>G c.692C>G c.4732C>G (p.Leu1578Val) c.4034-4189C>G (n.4034-4189C>G) c.3367C>G (p.Leu1123Val) c.5281C>G (p.Leu1761Val) c.3488-4189C>G (n.3488-4189C>G) c.5008C>G (p.Leu1670Val) c.4462C>G (p.Leu1488Val) c.4580-4189C>G (n.4580-4189C>G) c.4189C>G (p.Leu1397Val) c.3761-4189C>G (n.3761-4189C>G) c.3640C>G (p.Leu1214Val) c.5554C>G (p.Leu1852Val) c.5278C>G (p.Leu1760Val) | |
9 | g.115046530G>T | CA374630960 | TNC | c.318-4189C>A c.3215-4189C>A (n.3215-4189C>A) c.3916C>A (p.Leu1306Ile) c.1948C>A (p.Leu650Ile) c.604C>A (p.Leu202Ile) c.3963C>A c.5005C>A (p.Leu1669Ile) c.4459C>A (p.Leu1487Ile) c.4307-4189C>A (n.4307-4189C>A) n.323C>A n.253-4189C>A n.40-4189C>A c.692C>A c.4732C>A (p.Leu1578Ile) c.4034-4189C>A (n.4034-4189C>A) c.3367C>A (p.Leu1123Ile) c.5281C>A (p.Leu1761Ile) c.3488-4189C>A (n.3488-4189C>A) c.5008C>A (p.Leu1670Ile) c.4462C>A (p.Leu1488Ile) c.4580-4189C>A (n.4580-4189C>A) c.4189C>A (p.Leu1397Ile) c.3761-4189C>A (n.3761-4189C>A) c.3640C>A (p.Leu1214Ile) c.5554C>A (p.Leu1852Ile) c.5278C>A (p.Leu1760Ile) | |
9 | g.115046531T>A | CA466912448 | TNC | c.318-4190A>T c.3215-4190A>T (n.3215-4190A>T) c.3915A>T (p.Leu1305=) c.1947A>T (p.Leu649=) c.603A>T (p.Leu201=) c.3962A>T c.5004A>T (p.Leu1668=) c.4458A>T (p.Leu1486=) c.4307-4190A>T (n.4307-4190A>T) n.322A>T n.253-4190A>T n.40-4190A>T c.691A>T c.4731A>T (p.Leu1577=) c.4034-4190A>T (n.4034-4190A>T) c.3366A>T (p.Leu1122=) c.5280A>T (p.Leu1760=) c.3488-4190A>T (n.3488-4190A>T) c.5007A>T (p.Leu1669=) c.4461A>T (p.Leu1487=) c.4580-4190A>T (n.4580-4190A>T) c.4188A>T (p.Leu1396=) c.3761-4190A>T (n.3761-4190A>T) c.3639A>T (p.Leu1213=) c.5553A>T (p.Leu1851=) c.5277A>T (p.Leu1759=) | |
9 | g.115046531T>C | CA466912451 | TNC | c.318-4190A>G c.3215-4190A>G (n.3215-4190A>G) c.3915A>G (p.Leu1305=) c.1947A>G (p.Leu649=) c.603A>G (p.Leu201=) c.3962A>G c.5004A>G (p.Leu1668=) c.4458A>G (p.Leu1486=) c.4307-4190A>G (n.4307-4190A>G) n.322A>G n.253-4190A>G n.40-4190A>G c.691A>G c.4731A>G (p.Leu1577=) c.4034-4190A>G (n.4034-4190A>G) c.3366A>G (p.Leu1122=) c.5280A>G (p.Leu1760=) c.3488-4190A>G (n.3488-4190A>G) c.5007A>G (p.Leu1669=) c.4461A>G (p.Leu1487=) c.4580-4190A>G (n.4580-4190A>G) c.4188A>G (p.Leu1396=) c.3761-4190A>G (n.3761-4190A>G) c.3639A>G (p.Leu1213=) c.5553A>G (p.Leu1851=) c.5277A>G (p.Leu1759=) | |
9 | g.115046531T>G | CA466912452 | TNC | c.318-4190A>C c.3215-4190A>C (n.3215-4190A>C) c.3915A>C (p.Leu1305=) c.1947A>C (p.Leu649=) c.603A>C (p.Leu201=) c.3962A>C c.5004A>C (p.Leu1668=) c.4458A>C (p.Leu1486=) c.4307-4190A>C (n.4307-4190A>C) n.322A>C n.253-4190A>C n.40-4190A>C c.691A>C c.4731A>C (p.Leu1577=) c.4034-4190A>C (n.4034-4190A>C) c.3366A>C (p.Leu1122=) c.5280A>C (p.Leu1760=) c.3488-4190A>C (n.3488-4190A>C) c.5007A>C (p.Leu1669=) c.4461A>C (p.Leu1487=) c.4580-4190A>C (n.4580-4190A>C) c.4188A>C (p.Leu1396=) c.3761-4190A>C (n.3761-4190A>C) c.3639A>C (p.Leu1213=) c.5553A>C (p.Leu1851=) c.5277A>C (p.Leu1759=) | |
9 | g.115046532A>C | CA374630962 | TNC | c.318-4191T>G c.3215-4191T>G (n.3215-4191T>G) c.3914T>G (p.Leu1305Arg) c.1946T>G (p.Leu649Arg) c.602T>G (p.Leu201Arg) c.3961T>G c.5003T>G (p.Leu1668Arg) c.4457T>G (p.Leu1486Arg) c.4307-4191T>G (n.4307-4191T>G) n.321T>G n.253-4191T>G n.40-4191T>G c.690T>G c.4730T>G (p.Leu1577Arg) c.4034-4191T>G (n.4034-4191T>G) c.3365T>G (p.Leu1122Arg) c.5279T>G (p.Leu1760Arg) c.3488-4191T>G (n.3488-4191T>G) c.5006T>G (p.Leu1669Arg) c.4460T>G (p.Leu1487Arg) c.4580-4191T>G (n.4580-4191T>G) c.4187T>G (p.Leu1396Arg) c.3761-4191T>G (n.3761-4191T>G) c.3638T>G (p.Leu1213Arg) c.5552T>G (p.Leu1851Arg) c.5276T>G (p.Leu1759Arg) | |
9 | g.115046532A>G | CA374630965 | TNC | c.318-4191T>C c.3215-4191T>C (n.3215-4191T>C) c.3914T>C (p.Leu1305Pro) c.1946T>C (p.Leu649Pro) c.602T>C (p.Leu201Pro) c.3961T>C c.5003T>C (p.Leu1668Pro) c.4457T>C (p.Leu1486Pro) c.4307-4191T>C (n.4307-4191T>C) n.321T>C n.253-4191T>C n.40-4191T>C c.690T>C c.4730T>C (p.Leu1577Pro) c.4034-4191T>C (n.4034-4191T>C) c.3365T>C (p.Leu1122Pro) c.5279T>C (p.Leu1760Pro) c.3488-4191T>C (n.3488-4191T>C) c.5006T>C (p.Leu1669Pro) c.4460T>C (p.Leu1487Pro) c.4580-4191T>C (n.4580-4191T>C) c.4187T>C (p.Leu1396Pro) c.3761-4191T>C (n.3761-4191T>C) c.3638T>C (p.Leu1213Pro) c.5552T>C (p.Leu1851Pro) c.5276T>C (p.Leu1759Pro) | |
9 | g.115046532A>T | CA374630964 | TNC | c.318-4191T>A c.3215-4191T>A (n.3215-4191T>A) c.3914T>A (p.Leu1305Gln) c.1946T>A (p.Leu649Gln) c.602T>A (p.Leu201Gln) c.3961T>A c.5003T>A (p.Leu1668Gln) c.4457T>A (p.Leu1486Gln) c.4307-4191T>A (n.4307-4191T>A) n.321T>A n.253-4191T>A n.40-4191T>A c.690T>A c.4730T>A (p.Leu1577Gln) c.4034-4191T>A (n.4034-4191T>A) c.3365T>A (p.Leu1122Gln) c.5279T>A (p.Leu1760Gln) c.3488-4191T>A (n.3488-4191T>A) c.5006T>A (p.Leu1669Gln) c.4460T>A (p.Leu1487Gln) c.4580-4191T>A (n.4580-4191T>A) c.4187T>A (p.Leu1396Gln) c.3761-4191T>A (n.3761-4191T>A) c.3638T>A (p.Leu1213Gln) c.5552T>A (p.Leu1851Gln) c.5276T>A (p.Leu1759Gln) | |
9 | g.115046533G>A | CA466912453 | TNC | c.318-4192C>T c.3215-4192C>T (n.3215-4192C>T) c.3913C>T (p.Leu1305=) c.1945C>T (p.Leu649=) c.601C>T (p.Leu201=) c.3960C>T c.5002C>T (p.Leu1668=) c.4456C>T (p.Leu1486=) c.4307-4192C>T (n.4307-4192C>T) n.320C>T n.253-4192C>T n.40-4192C>T c.689C>T c.4729C>T (p.Leu1577=) c.4034-4192C>T (n.4034-4192C>T) c.3364C>T (p.Leu1122=) c.5278C>T (p.Leu1760=) c.3488-4192C>T (n.3488-4192C>T) c.5005C>T (p.Leu1669=) c.4459C>T (p.Leu1487=) c.4580-4192C>T (n.4580-4192C>T) c.4186C>T (p.Leu1396=) c.3761-4192C>T (n.3761-4192C>T) c.3637C>T (p.Leu1213=) c.5551C>T (p.Leu1851=) c.5275C>T (p.Leu1759=) | |
9 | g.115046533G>C | CA374630967 | TNC | c.318-4192C>G c.3215-4192C>G (n.3215-4192C>G) c.3913C>G (p.Leu1305Val) c.1945C>G (p.Leu649Val) c.601C>G (p.Leu201Val) c.3960C>G c.5002C>G (p.Leu1668Val) c.4456C>G (p.Leu1486Val) c.4307-4192C>G (n.4307-4192C>G) n.320C>G n.253-4192C>G n.40-4192C>G c.689C>G c.4729C>G (p.Leu1577Val) c.4034-4192C>G (n.4034-4192C>G) c.3364C>G (p.Leu1122Val) c.5278C>G (p.Leu1760Val) c.3488-4192C>G (n.3488-4192C>G) c.5005C>G (p.Leu1669Val) c.4459C>G (p.Leu1487Val) c.4580-4192C>G (n.4580-4192C>G) c.4186C>G (p.Leu1396Val) c.3761-4192C>G (n.3761-4192C>G) c.3637C>G (p.Leu1213Val) c.5551C>G (p.Leu1851Val) c.5275C>G (p.Leu1759Val) | gnomAD v4 |
9 | g.115046533G>T | CA374630969 | TNC | c.318-4192C>A c.3215-4192C>A (n.3215-4192C>A) c.3913C>A (p.Leu1305Ile) c.1945C>A (p.Leu649Ile) c.601C>A (p.Leu201Ile) c.3960C>A c.5002C>A (p.Leu1668Ile) c.4456C>A (p.Leu1486Ile) c.4307-4192C>A (n.4307-4192C>A) n.320C>A n.253-4192C>A n.40-4192C>A c.689C>A c.4729C>A (p.Leu1577Ile) c.4034-4192C>A (n.4034-4192C>A) c.3364C>A (p.Leu1122Ile) c.5278C>A (p.Leu1760Ile) c.3488-4192C>A (n.3488-4192C>A) c.5005C>A (p.Leu1669Ile) c.4459C>A (p.Leu1487Ile) c.4580-4192C>A (n.4580-4192C>A) c.4186C>A (p.Leu1396Ile) c.3761-4192C>A (n.3761-4192C>A) c.3637C>A (p.Leu1213Ile) c.5551C>A (p.Leu1851Ile) c.5275C>A (p.Leu1759Ile) | COSMIC |
9 | g.115046534G>A | CA466912455 | TNC | c.318-4193C>T c.3215-4193C>T (n.3215-4193C>T) c.3912C>T (p.Thr1304=) c.1944C>T (p.Thr648=) c.600C>T (p.Thr200=) c.3959C>T c.5001C>T (p.Thr1667=) c.4455C>T (p.Thr1485=) c.4307-4193C>T (n.4307-4193C>T) n.319C>T n.253-4193C>T n.40-4193C>T c.688C>T c.4728C>T (p.Thr1576=) c.4034-4193C>T (n.4034-4193C>T) c.3363C>T (p.Thr1121=) c.5277C>T (p.Thr1759=) c.3488-4193C>T (n.3488-4193C>T) c.5004C>T (p.Thr1668=) c.4458C>T (p.Thr1486=) c.4580-4193C>T (n.4580-4193C>T) c.4185C>T (p.Thr1395=) c.3761-4193C>T (n.3761-4193C>T) c.3636C>T (p.Thr1212=) c.5550C>T (p.Thr1850=) c.5274C>T (p.Thr1758=) | |
9 | g.115046534G>C | CA466912456 | TNC | c.318-4193C>G c.3215-4193C>G (n.3215-4193C>G) c.3912C>G (p.Thr1304=) c.1944C>G (p.Thr648=) c.600C>G (p.Thr200=) c.3959C>G c.5001C>G (p.Thr1667=) c.4455C>G (p.Thr1485=) c.4307-4193C>G (n.4307-4193C>G) n.319C>G n.253-4193C>G n.40-4193C>G c.688C>G c.4728C>G (p.Thr1576=) c.4034-4193C>G (n.4034-4193C>G) c.3363C>G (p.Thr1121=) c.5277C>G (p.Thr1759=) c.3488-4193C>G (n.3488-4193C>G) c.5004C>G (p.Thr1668=) c.4458C>G (p.Thr1486=) c.4580-4193C>G (n.4580-4193C>G) c.4185C>G (p.Thr1395=) c.3761-4193C>G (n.3761-4193C>G) c.3636C>G (p.Thr1212=) c.5550C>G (p.Thr1850=) c.5274C>G (p.Thr1758=) | |
9 | g.115046534G>T | CA466912457 | TNC | c.318-4193C>A c.3215-4193C>A (n.3215-4193C>A) c.3912C>A (p.Thr1304=) c.1944C>A (p.Thr648=) c.600C>A (p.Thr200=) c.3959C>A c.5001C>A (p.Thr1667=) c.4455C>A (p.Thr1485=) c.4307-4193C>A (n.4307-4193C>A) n.319C>A n.253-4193C>A n.40-4193C>A c.688C>A c.4728C>A (p.Thr1576=) c.4034-4193C>A (n.4034-4193C>A) c.3363C>A (p.Thr1121=) c.5277C>A (p.Thr1759=) c.3488-4193C>A (n.3488-4193C>A) c.5004C>A (p.Thr1668=) c.4458C>A (p.Thr1486=) c.4580-4193C>A (n.4580-4193C>A) c.4185C>A (p.Thr1395=) c.3761-4193C>A (n.3761-4193C>A) c.3636C>A (p.Thr1212=) c.5550C>A (p.Thr1850=) c.5274C>A (p.Thr1758=) | |
9 | g.115046535G>A | CA374630970 | TNC | c.318-4194C>T c.3215-4194C>T (n.3215-4194C>T) c.3911C>T (p.Thr1304Ile) c.1943C>T (p.Thr648Ile) c.599C>T (p.Thr200Ile) c.3958C>T c.5000C>T (p.Thr1667Ile) c.4454C>T (p.Thr1485Ile) c.4307-4194C>T (n.4307-4194C>T) n.318C>T n.253-4194C>T n.40-4194C>T c.687C>T c.4727C>T (p.Thr1576Ile) c.4034-4194C>T (n.4034-4194C>T) c.3362C>T (p.Thr1121Ile) c.5276C>T (p.Thr1759Ile) c.3488-4194C>T (n.3488-4194C>T) c.5003C>T (p.Thr1668Ile) c.4457C>T (p.Thr1486Ile) c.4580-4194C>T (n.4580-4194C>T) c.4184C>T (p.Thr1395Ile) c.3761-4194C>T (n.3761-4194C>T) c.3635C>T (p.Thr1212Ile) c.5549C>T (p.Thr1850Ile) c.5273C>T (p.Thr1758Ile) | dbSNP |
9 | g.115046535G>C | CA374630972 | TNC | c.318-4194C>G c.3215-4194C>G (n.3215-4194C>G) c.3911C>G (p.Thr1304Ser) c.1943C>G (p.Thr648Ser) c.599C>G (p.Thr200Ser) c.3958C>G c.5000C>G (p.Thr1667Ser) c.4454C>G (p.Thr1485Ser) c.4307-4194C>G (n.4307-4194C>G) n.318C>G n.253-4194C>G n.40-4194C>G c.687C>G c.4727C>G (p.Thr1576Ser) c.4034-4194C>G (n.4034-4194C>G) c.3362C>G (p.Thr1121Ser) c.5276C>G (p.Thr1759Ser) c.3488-4194C>G (n.3488-4194C>G) c.5003C>G (p.Thr1668Ser) c.4457C>G (p.Thr1486Ser) c.4580-4194C>G (n.4580-4194C>G) c.4184C>G (p.Thr1395Ser) c.3761-4194C>G (n.3761-4194C>G) c.3635C>G (p.Thr1212Ser) c.5549C>G (p.Thr1850Ser) c.5273C>G (p.Thr1758Ser) | |
9 | g.115046535G= | CA1874118904 | TNC | c.318-4194C= c.3215-4194C= (n.3215-4194C=) c.3911C= (p.Thr1304=) c.1943C= (p.Thr648=) c.599C= (p.Thr200=) c.3958C= c.5000C= (p.Thr1667=) c.4454C= (p.Thr1485=) c.4307-4194C= (n.4307-4194C=) n.318C= n.253-4194C= n.40-4194C= c.687C= c.4727C= (p.Thr1576=) c.4034-4194C= (n.4034-4194C=) c.3362C= (p.Thr1121=) c.5276C= (p.Thr1759=) c.3488-4194C= (n.3488-4194C=) c.5003C= (p.Thr1668=) c.4457C= (p.Thr1486=) c.4580-4194C= (n.4580-4194C=) c.4184C= (p.Thr1395=) c.3761-4194C= (n.3761-4194C=) c.3635C= (p.Thr1212=) c.5549C= (p.Thr1850=) c.5273C= (p.Thr1758=) | |
9 | g.115046535G>T | CA198692619 | TNC | c.318-4194C>A c.3215-4194C>A (n.3215-4194C>A) c.3911C>A (p.Thr1304Asn) c.1943C>A (p.Thr648Asn) c.599C>A (p.Thr200Asn) c.3958C>A c.5000C>A (p.Thr1667Asn) c.4454C>A (p.Thr1485Asn) c.4307-4194C>A (n.4307-4194C>A) n.318C>A n.253-4194C>A n.40-4194C>A c.687C>A c.4727C>A (p.Thr1576Asn) c.4034-4194C>A (n.4034-4194C>A) c.3362C>A (p.Thr1121Asn) c.5276C>A (p.Thr1759Asn) c.3488-4194C>A (n.3488-4194C>A) c.5003C>A (p.Thr1668Asn) c.4457C>A (p.Thr1486Asn) c.4580-4194C>A (n.4580-4194C>A) c.4184C>A (p.Thr1395Asn) c.3761-4194C>A (n.3761-4194C>A) c.3635C>A (p.Thr1212Asn) c.5549C>A (p.Thr1850Asn) c.5273C>A (p.Thr1758Asn) | dbSNP gnomAD v4 |
9 | g.115046536T>A | CA374630974 | TNC | c.318-4195A>T c.3215-4195A>T (n.3215-4195A>T) c.3910A>T (p.Thr1304Ser) c.1942A>T (p.Thr648Ser) c.598A>T (p.Thr200Ser) c.3957A>T c.4999A>T (p.Thr1667Ser) c.4453A>T (p.Thr1485Ser) c.4307-4195A>T (n.4307-4195A>T) n.317A>T n.253-4195A>T n.40-4195A>T c.686A>T c.4726A>T (p.Thr1576Ser) c.4034-4195A>T (n.4034-4195A>T) c.3361A>T (p.Thr1121Ser) c.5275A>T (p.Thr1759Ser) c.3488-4195A>T (n.3488-4195A>T) c.5002A>T (p.Thr1668Ser) c.4456A>T (p.Thr1486Ser) c.4580-4195A>T (n.4580-4195A>T) c.4183A>T (p.Thr1395Ser) c.3761-4195A>T (n.3761-4195A>T) c.3634A>T (p.Thr1212Ser) c.5548A>T (p.Thr1850Ser) c.5272A>T (p.Thr1758Ser) | |
9 | g.115046536T>C | CA374630976 | TNC | c.318-4195A>G c.3215-4195A>G (n.3215-4195A>G) c.3910A>G (p.Thr1304Ala) c.1942A>G (p.Thr648Ala) c.598A>G (p.Thr200Ala) c.3957A>G c.4999A>G (p.Thr1667Ala) c.4453A>G (p.Thr1485Ala) c.4307-4195A>G (n.4307-4195A>G) n.317A>G n.253-4195A>G n.40-4195A>G c.686A>G c.4726A>G (p.Thr1576Ala) c.4034-4195A>G (n.4034-4195A>G) c.3361A>G (p.Thr1121Ala) c.5275A>G (p.Thr1759Ala) c.3488-4195A>G (n.3488-4195A>G) c.5002A>G (p.Thr1668Ala) c.4456A>G (p.Thr1486Ala) c.4580-4195A>G (n.4580-4195A>G) c.4183A>G (p.Thr1395Ala) c.3761-4195A>G (n.3761-4195A>G) c.3634A>G (p.Thr1212Ala) c.5548A>G (p.Thr1850Ala) c.5272A>G (p.Thr1758Ala) | gnomAD v4 |
9 | g.115046536T>G | CA374630978 | TNC | c.318-4195A>C c.3215-4195A>C (n.3215-4195A>C) c.3910A>C (p.Thr1304Pro) c.1942A>C (p.Thr648Pro) c.598A>C (p.Thr200Pro) c.3957A>C c.4999A>C (p.Thr1667Pro) c.4453A>C (p.Thr1485Pro) c.4307-4195A>C (n.4307-4195A>C) n.317A>C n.253-4195A>C n.40-4195A>C c.686A>C c.4726A>C (p.Thr1576Pro) c.4034-4195A>C (n.4034-4195A>C) c.3361A>C (p.Thr1121Pro) c.5275A>C (p.Thr1759Pro) c.3488-4195A>C (n.3488-4195A>C) c.5002A>C (p.Thr1668Pro) c.4456A>C (p.Thr1486Pro) c.4580-4195A>C (n.4580-4195A>C) c.4183A>C (p.Thr1395Pro) c.3761-4195A>C (n.3761-4195A>C) c.3634A>C (p.Thr1212Pro) c.5548A>C (p.Thr1850Pro) c.5272A>C (p.Thr1758Pro) | |
9 | g.115046537T>A | CA466912459 | TNC | c.318-4196A>T c.3215-4196A>T (n.3215-4196A>T) c.3909A>T (p.Ile1303=) c.1941A>T (p.Ile647=) c.597A>T (p.Ile199=) c.3956A>T c.4998A>T (p.Ile1666=) c.4452A>T (p.Ile1484=) c.4307-4196A>T (n.4307-4196A>T) n.316A>T n.253-4196A>T n.40-4196A>T c.685A>T c.4725A>T (p.Ile1575=) c.4034-4196A>T (n.4034-4196A>T) c.3360A>T (p.Ile1120=) c.5274A>T (p.Ile1758=) c.3488-4196A>T (n.3488-4196A>T) c.5001A>T (p.Ile1667=) c.4455A>T (p.Ile1485=) c.4580-4196A>T (n.4580-4196A>T) c.4182A>T (p.Ile1394=) c.3761-4196A>T (n.3761-4196A>T) c.3633A>T (p.Ile1211=) c.5547A>T (p.Ile1849=) c.5271A>T (p.Ile1757=) | |
9 | g.115046537T>C | CA374630979 | TNC | c.318-4196A>G c.3215-4196A>G (n.3215-4196A>G) c.3909A>G (p.Ile1303Met) c.1941A>G (p.Ile647Met) c.597A>G (p.Ile199Met) c.3956A>G c.4998A>G (p.Ile1666Met) c.4452A>G (p.Ile1484Met) c.4307-4196A>G (n.4307-4196A>G) n.316A>G n.253-4196A>G n.40-4196A>G c.685A>G c.4725A>G (p.Ile1575Met) c.4034-4196A>G (n.4034-4196A>G) c.3360A>G (p.Ile1120Met) c.5274A>G (p.Ile1758Met) c.3488-4196A>G (n.3488-4196A>G) c.5001A>G (p.Ile1667Met) c.4455A>G (p.Ile1485Met) c.4580-4196A>G (n.4580-4196A>G) c.4182A>G (p.Ile1394Met) c.3761-4196A>G (n.3761-4196A>G) c.3633A>G (p.Ile1211Met) c.5547A>G (p.Ile1849Met) c.5271A>G (p.Ile1757Met) | |
9 | g.115046537T>G | CA466912461 | TNC | c.318-4196A>C c.3215-4196A>C (n.3215-4196A>C) c.3909A>C (p.Ile1303=) c.1941A>C (p.Ile647=) c.597A>C (p.Ile199=) c.3956A>C c.4998A>C (p.Ile1666=) c.4452A>C (p.Ile1484=) c.4307-4196A>C (n.4307-4196A>C) n.316A>C n.253-4196A>C n.40-4196A>C c.685A>C c.4725A>C (p.Ile1575=) c.4034-4196A>C (n.4034-4196A>C) c.3360A>C (p.Ile1120=) c.5274A>C (p.Ile1758=) c.3488-4196A>C (n.3488-4196A>C) c.5001A>C (p.Ile1667=) c.4455A>C (p.Ile1485=) c.4580-4196A>C (n.4580-4196A>C) c.4182A>C (p.Ile1394=) c.3761-4196A>C (n.3761-4196A>C) c.3633A>C (p.Ile1211=) c.5547A>C (p.Ile1849=) c.5271A>C (p.Ile1757=) | |
9 | g.115046538A>C | CA374630981 | TNC | c.318-4197T>G c.3215-4197T>G (n.3215-4197T>G) c.3908T>G (p.Ile1303Arg) c.1940T>G (p.Ile647Arg) c.596T>G (p.Ile199Arg) c.3955T>G c.4997T>G (p.Ile1666Arg) c.4451T>G (p.Ile1484Arg) c.4307-4197T>G (n.4307-4197T>G) n.315T>G n.253-4197T>G n.40-4197T>G c.684T>G c.4724T>G (p.Ile1575Arg) c.4034-4197T>G (n.4034-4197T>G) c.3359T>G (p.Ile1120Arg) c.5273T>G (p.Ile1758Arg) c.3488-4197T>G (n.3488-4197T>G) c.5000T>G (p.Ile1667Arg) c.4454T>G (p.Ile1485Arg) c.4580-4197T>G (n.4580-4197T>G) c.4181T>G (p.Ile1394Arg) c.3761-4197T>G (n.3761-4197T>G) c.3632T>G (p.Ile1211Arg) c.5546T>G (p.Ile1849Arg) c.5270T>G (p.Ile1757Arg) | gnomAD v4 COSMIC |
9 | g.115046538A>G | CA374630983 | TNC | c.318-4197T>C c.3215-4197T>C (n.3215-4197T>C) c.3908T>C (p.Ile1303Thr) c.1940T>C (p.Ile647Thr) c.596T>C (p.Ile199Thr) c.3955T>C c.4997T>C (p.Ile1666Thr) c.4451T>C (p.Ile1484Thr) c.4307-4197T>C (n.4307-4197T>C) n.315T>C n.253-4197T>C n.40-4197T>C c.684T>C c.4724T>C (p.Ile1575Thr) c.4034-4197T>C (n.4034-4197T>C) c.3359T>C (p.Ile1120Thr) c.5273T>C (p.Ile1758Thr) c.3488-4197T>C (n.3488-4197T>C) c.5000T>C (p.Ile1667Thr) c.4454T>C (p.Ile1485Thr) c.4580-4197T>C (n.4580-4197T>C) c.4181T>C (p.Ile1394Thr) c.3761-4197T>C (n.3761-4197T>C) c.3632T>C (p.Ile1211Thr) c.5546T>C (p.Ile1849Thr) c.5270T>C (p.Ile1757Thr) | |
9 | g.115046538A>T | CA374630984 | TNC | c.318-4197T>A c.3215-4197T>A (n.3215-4197T>A) c.3908T>A (p.Ile1303Lys) c.1940T>A (p.Ile647Lys) c.596T>A (p.Ile199Lys) c.3955T>A c.4997T>A (p.Ile1666Lys) c.4451T>A (p.Ile1484Lys) c.4307-4197T>A (n.4307-4197T>A) n.315T>A n.253-4197T>A n.40-4197T>A c.684T>A c.4724T>A (p.Ile1575Lys) c.4034-4197T>A (n.4034-4197T>A) c.3359T>A (p.Ile1120Lys) c.5273T>A (p.Ile1758Lys) c.3488-4197T>A (n.3488-4197T>A) c.5000T>A (p.Ile1667Lys) c.4454T>A (p.Ile1485Lys) c.4580-4197T>A (n.4580-4197T>A) c.4181T>A (p.Ile1394Lys) c.3761-4197T>A (n.3761-4197T>A) c.3632T>A (p.Ile1211Lys) c.5546T>A (p.Ile1849Lys) c.5270T>A (p.Ile1757Lys) | |
9 | g.115046539T>A | CA374630990 | TNC | c.318-4198A>T c.3215-4198A>T (n.3215-4198A>T) c.3907A>T (p.Ile1303Leu) c.1939A>T (p.Ile647Leu) c.595A>T (p.Ile199Leu) c.3954A>T c.4996A>T (p.Ile1666Leu) c.4450A>T (p.Ile1484Leu) c.4307-4198A>T (n.4307-4198A>T) n.314A>T n.253-4198A>T n.40-4198A>T c.683A>T c.4723A>T (p.Ile1575Leu) c.4034-4198A>T (n.4034-4198A>T) c.3358A>T (p.Ile1120Leu) c.5272A>T (p.Ile1758Leu) c.3488-4198A>T (n.3488-4198A>T) c.4999A>T (p.Ile1667Leu) c.4453A>T (p.Ile1485Leu) c.4580-4198A>T (n.4580-4198A>T) c.4180A>T (p.Ile1394Leu) c.3761-4198A>T (n.3761-4198A>T) c.3631A>T (p.Ile1211Leu) c.5545A>T (p.Ile1849Leu) c.5269A>T (p.Ile1757Leu) | |
9 | g.115046539T>C | CA374630989 | TNC | c.318-4198A>G c.3215-4198A>G (n.3215-4198A>G) c.3907A>G (p.Ile1303Val) c.1939A>G (p.Ile647Val) c.595A>G (p.Ile199Val) c.3954A>G c.4996A>G (p.Ile1666Val) c.4450A>G (p.Ile1484Val) c.4307-4198A>G (n.4307-4198A>G) n.314A>G n.253-4198A>G n.40-4198A>G c.683A>G c.4723A>G (p.Ile1575Val) c.4034-4198A>G (n.4034-4198A>G) c.3358A>G (p.Ile1120Val) c.5272A>G (p.Ile1758Val) c.3488-4198A>G (n.3488-4198A>G) c.4999A>G (p.Ile1667Val) c.4453A>G (p.Ile1485Val) c.4580-4198A>G (n.4580-4198A>G) c.4180A>G (p.Ile1394Val) c.3761-4198A>G (n.3761-4198A>G) c.3631A>G (p.Ile1211Val) c.5545A>G (p.Ile1849Val) c.5269A>G (p.Ile1757Val) | |
9 | g.115046539T>G | CA374630987 | TNC | c.318-4198A>C c.3215-4198A>C (n.3215-4198A>C) c.3907A>C (p.Ile1303Leu) c.1939A>C (p.Ile647Leu) c.595A>C (p.Ile199Leu) c.3954A>C c.4996A>C (p.Ile1666Leu) c.4450A>C (p.Ile1484Leu) c.4307-4198A>C (n.4307-4198A>C) n.314A>C n.253-4198A>C n.40-4198A>C c.683A>C c.4723A>C (p.Ile1575Leu) c.4034-4198A>C (n.4034-4198A>C) c.3358A>C (p.Ile1120Leu) c.5272A>C (p.Ile1758Leu) c.3488-4198A>C (n.3488-4198A>C) c.4999A>C (p.Ile1667Leu) c.4453A>C (p.Ile1485Leu) c.4580-4198A>C (n.4580-4198A>C) c.4180A>C (p.Ile1394Leu) c.3761-4198A>C (n.3761-4198A>C) c.3631A>C (p.Ile1211Leu) c.5545A>C (p.Ile1849Leu) c.5269A>C (p.Ile1757Leu) | |
9 | g.115046540T>A | CA374630992 | TNC | c.318-4199A>T c.3215-4199A>T (n.3215-4199A>T) c.3906A>T (p.Glu1302Asp) c.1938A>T (p.Glu646Asp) c.594A>T (p.Glu198Asp) c.3953A>T c.4995A>T (p.Glu1665Asp) c.4449A>T (p.Glu1483Asp) c.4307-4199A>T (n.4307-4199A>T) n.313A>T n.253-4199A>T n.40-4199A>T c.682A>T c.4722A>T (p.Glu1574Asp) c.4034-4199A>T (n.4034-4199A>T) c.3357A>T (p.Glu1119Asp) c.5271A>T (p.Glu1757Asp) c.3488-4199A>T (n.3488-4199A>T) c.4998A>T (p.Glu1666Asp) c.4452A>T (p.Glu1484Asp) c.4580-4199A>T (n.4580-4199A>T) c.4179A>T (p.Glu1393Asp) c.3761-4199A>T (n.3761-4199A>T) c.3630A>T (p.Glu1210Asp) c.5544A>T (p.Glu1848Asp) c.5268A>T (p.Glu1756Asp) | |
9 | g.115046540T>C | CA466912463 | TNC | c.318-4199A>G c.3215-4199A>G (n.3215-4199A>G) c.3906A>G (p.Glu1302=) c.1938A>G (p.Glu646=) c.594A>G (p.Glu198=) c.3953A>G c.4995A>G (p.Glu1665=) c.4449A>G (p.Glu1483=) c.4307-4199A>G (n.4307-4199A>G) n.313A>G n.253-4199A>G n.40-4199A>G c.682A>G c.4722A>G (p.Glu1574=) c.4034-4199A>G (n.4034-4199A>G) c.3357A>G (p.Glu1119=) c.5271A>G (p.Glu1757=) c.3488-4199A>G (n.3488-4199A>G) c.4998A>G (p.Glu1666=) c.4452A>G (p.Glu1484=) c.4580-4199A>G (n.4580-4199A>G) c.4179A>G (p.Glu1393=) c.3761-4199A>G (n.3761-4199A>G) c.3630A>G (p.Glu1210=) c.5544A>G (p.Glu1848=) c.5268A>G (p.Glu1756=) | |
9 | g.115046540T>G | CA374630993 | TNC | c.318-4199A>C c.3215-4199A>C (n.3215-4199A>C) c.3906A>C (p.Glu1302Asp) c.1938A>C (p.Glu646Asp) c.594A>C (p.Glu198Asp) c.3953A>C c.4995A>C (p.Glu1665Asp) c.4449A>C (p.Glu1483Asp) c.4307-4199A>C (n.4307-4199A>C) n.313A>C n.253-4199A>C n.40-4199A>C c.682A>C c.4722A>C (p.Glu1574Asp) c.4034-4199A>C (n.4034-4199A>C) c.3357A>C (p.Glu1119Asp) c.5271A>C (p.Glu1757Asp) c.3488-4199A>C (n.3488-4199A>C) c.4998A>C (p.Glu1666Asp) c.4452A>C (p.Glu1484Asp) c.4580-4199A>C (n.4580-4199A>C) c.4179A>C (p.Glu1393Asp) c.3761-4199A>C (n.3761-4199A>C) c.3630A>C (p.Glu1210Asp) c.5544A>C (p.Glu1848Asp) c.5268A>C (p.Glu1756Asp) | |
9 | g.115046541T>A | CA374630995 | TNC | c.318-4200A>T c.3215-4200A>T (n.3215-4200A>T) c.3905A>T (p.Glu1302Val) c.1937A>T (p.Glu646Val) c.593A>T (p.Glu198Val) c.3952A>T c.4994A>T (p.Glu1665Val) c.4448A>T (p.Glu1483Val) c.4307-4200A>T (n.4307-4200A>T) n.312A>T n.253-4200A>T n.40-4200A>T c.681A>T c.4721A>T (p.Glu1574Val) c.4034-4200A>T (n.4034-4200A>T) c.3356A>T (p.Glu1119Val) c.5270A>T (p.Glu1757Val) c.3488-4200A>T (n.3488-4200A>T) c.4997A>T (p.Glu1666Val) c.4451A>T (p.Glu1484Val) c.4580-4200A>T (n.4580-4200A>T) c.4178A>T (p.Glu1393Val) c.3761-4200A>T (n.3761-4200A>T) c.3629A>T (p.Glu1210Val) c.5543A>T (p.Glu1848Val) c.5267A>T (p.Glu1756Val) | |
9 | g.115046541T>C | CA374630997 | TNC | c.318-4200A>G c.3215-4200A>G (n.3215-4200A>G) c.3905A>G (p.Glu1302Gly) c.1937A>G (p.Glu646Gly) c.593A>G (p.Glu198Gly) c.3952A>G c.4994A>G (p.Glu1665Gly) c.4448A>G (p.Glu1483Gly) c.4307-4200A>G (n.4307-4200A>G) n.312A>G n.253-4200A>G n.40-4200A>G c.681A>G c.4721A>G (p.Glu1574Gly) c.4034-4200A>G (n.4034-4200A>G) c.3356A>G (p.Glu1119Gly) c.5270A>G (p.Glu1757Gly) c.3488-4200A>G (n.3488-4200A>G) c.4997A>G (p.Glu1666Gly) c.4451A>G (p.Glu1484Gly) c.4580-4200A>G (n.4580-4200A>G) c.4178A>G (p.Glu1393Gly) c.3761-4200A>G (n.3761-4200A>G) c.3629A>G (p.Glu1210Gly) c.5543A>G (p.Glu1848Gly) c.5267A>G (p.Glu1756Gly) | |
9 | g.115046541T>G | CA374630998 | TNC | c.318-4200A>C c.3215-4200A>C (n.3215-4200A>C) c.3905A>C (p.Glu1302Ala) c.1937A>C (p.Glu646Ala) c.593A>C (p.Glu198Ala) c.3952A>C c.4994A>C (p.Glu1665Ala) c.4448A>C (p.Glu1483Ala) c.4307-4200A>C (n.4307-4200A>C) n.312A>C n.253-4200A>C n.40-4200A>C c.681A>C c.4721A>C (p.Glu1574Ala) c.4034-4200A>C (n.4034-4200A>C) c.3356A>C (p.Glu1119Ala) c.5270A>C (p.Glu1757Ala) c.3488-4200A>C (n.3488-4200A>C) c.4997A>C (p.Glu1666Ala) c.4451A>C (p.Glu1484Ala) c.4580-4200A>C (n.4580-4200A>C) c.4178A>C (p.Glu1393Ala) c.3761-4200A>C (n.3761-4200A>C) c.3629A>C (p.Glu1210Ala) c.5543A>C (p.Glu1848Ala) c.5267A>C (p.Glu1756Ala) | gnomAD v4 |
9 | g.115046542C>A | CA374631000 | TNC | c.318-4201G>T c.3215-4201G>T (n.3215-4201G>T) c.3904G>T (p.Glu1302Ter) c.1936G>T (p.Glu646Ter) c.592G>T (p.Glu198Ter) c.3951G>T c.4993G>T (p.Glu1665Ter) c.4447G>T (p.Glu1483Ter) c.4307-4201G>T (n.4307-4201G>T) n.311G>T n.253-4201G>T n.40-4201G>T c.680G>T c.4720G>T (p.Glu1574Ter) c.4034-4201G>T (n.4034-4201G>T) c.3355G>T (p.Glu1119Ter) c.5269G>T (p.Glu1757Ter) c.3488-4201G>T (n.3488-4201G>T) c.4996G>T (p.Glu1666Ter) c.4450G>T (p.Glu1484Ter) c.4580-4201G>T (n.4580-4201G>T) c.4177G>T (p.Glu1393Ter) c.3761-4201G>T (n.3761-4201G>T) c.3628G>T (p.Glu1210Ter) c.5542G>T (p.Glu1848Ter) c.5266G>T (p.Glu1756Ter) | |
9 | g.115046542C>G | CA374631001 | TNC | c.318-4201G>C c.3215-4201G>C (n.3215-4201G>C) c.3904G>C (p.Glu1302Gln) c.1936G>C (p.Glu646Gln) c.592G>C (p.Glu198Gln) c.3951G>C c.4993G>C (p.Glu1665Gln) c.4447G>C (p.Glu1483Gln) c.4307-4201G>C (n.4307-4201G>C) n.311G>C n.253-4201G>C n.40-4201G>C c.680G>C c.4720G>C (p.Glu1574Gln) c.4034-4201G>C (n.4034-4201G>C) c.3355G>C (p.Glu1119Gln) c.5269G>C (p.Glu1757Gln) c.3488-4201G>C (n.3488-4201G>C) c.4996G>C (p.Glu1666Gln) c.4450G>C (p.Glu1484Gln) c.4580-4201G>C (n.4580-4201G>C) c.4177G>C (p.Glu1393Gln) c.3761-4201G>C (n.3761-4201G>C) c.3628G>C (p.Glu1210Gln) c.5542G>C (p.Glu1848Gln) c.5266G>C (p.Glu1756Gln) | |
9 | g.115046542C>T | CA374631003 | TNC | c.318-4201G>A c.3215-4201G>A (n.3215-4201G>A) c.3904G>A (p.Glu1302Lys) c.1936G>A (p.Glu646Lys) c.592G>A (p.Glu198Lys) c.3951G>A c.4993G>A (p.Glu1665Lys) c.4447G>A (p.Glu1483Lys) c.4307-4201G>A (n.4307-4201G>A) n.311G>A n.253-4201G>A n.40-4201G>A c.680G>A c.4720G>A (p.Glu1574Lys) c.4034-4201G>A (n.4034-4201G>A) c.3355G>A (p.Glu1119Lys) c.5269G>A (p.Glu1757Lys) c.3488-4201G>A (n.3488-4201G>A) c.4996G>A (p.Glu1666Lys) c.4450G>A (p.Glu1484Lys) c.4580-4201G>A (n.4580-4201G>A) c.4177G>A (p.Glu1393Lys) c.3761-4201G>A (n.3761-4201G>A) c.3628G>A (p.Glu1210Lys) c.5542G>A (p.Glu1848Lys) c.5266G>A (p.Glu1756Lys) | COSMIC |
9 | g.115046543C>A | CA466912465 | TNC | c.318-4202G>T c.3215-4202G>T (n.3215-4202G>T) c.3903G>T (p.Leu1301=) c.1935G>T (p.Leu645=) c.591G>T (p.Leu197=) c.3950G>T c.4992G>T (p.Leu1664=) c.4446G>T (p.Leu1482=) c.4307-4202G>T (n.4307-4202G>T) n.310G>T n.253-4202G>T n.40-4202G>T c.679G>T c.4719G>T (p.Leu1573=) c.4034-4202G>T (n.4034-4202G>T) c.3354G>T (p.Leu1118=) c.5268G>T (p.Leu1756=) c.3488-4202G>T (n.3488-4202G>T) c.4995G>T (p.Leu1665=) c.4449G>T (p.Leu1483=) c.4580-4202G>T (n.4580-4202G>T) c.4176G>T (p.Leu1392=) c.3761-4202G>T (n.3761-4202G>T) c.3627G>T (p.Leu1209=) c.5541G>T (p.Leu1847=) c.5265G>T (p.Leu1755=) | |
9 | g.115046543C>G | CA466912466 | TNC | c.318-4202G>C c.3215-4202G>C (n.3215-4202G>C) c.3903G>C (p.Leu1301=) c.1935G>C (p.Leu645=) c.591G>C (p.Leu197=) c.3950G>C c.4992G>C (p.Leu1664=) c.4446G>C (p.Leu1482=) c.4307-4202G>C (n.4307-4202G>C) n.310G>C n.253-4202G>C n.40-4202G>C c.679G>C c.4719G>C (p.Leu1573=) c.4034-4202G>C (n.4034-4202G>C) c.3354G>C (p.Leu1118=) c.5268G>C (p.Leu1756=) c.3488-4202G>C (n.3488-4202G>C) c.4995G>C (p.Leu1665=) c.4449G>C (p.Leu1483=) c.4580-4202G>C (n.4580-4202G>C) c.4176G>C (p.Leu1392=) c.3761-4202G>C (n.3761-4202G>C) c.3627G>C (p.Leu1209=) c.5541G>C (p.Leu1847=) c.5265G>C (p.Leu1755=) | |
9 | g.115046543C>T | CA466912467 | TNC | c.318-4202G>A c.3215-4202G>A (n.3215-4202G>A) c.3903G>A (p.Leu1301=) c.1935G>A (p.Leu645=) c.591G>A (p.Leu197=) c.3950G>A c.4992G>A (p.Leu1664=) c.4446G>A (p.Leu1482=) c.4307-4202G>A (n.4307-4202G>A) n.310G>A n.253-4202G>A n.40-4202G>A c.679G>A c.4719G>A (p.Leu1573=) c.4034-4202G>A (n.4034-4202G>A) c.3354G>A (p.Leu1118=) c.5268G>A (p.Leu1756=) c.3488-4202G>A (n.3488-4202G>A) c.4995G>A (p.Leu1665=) c.4449G>A (p.Leu1483=) c.4580-4202G>A (n.4580-4202G>A) c.4176G>A (p.Leu1392=) c.3761-4202G>A (n.3761-4202G>A) c.3627G>A (p.Leu1209=) c.5541G>A (p.Leu1847=) c.5265G>A (p.Leu1755=) | |
9 | g.115046544A>C | CA374631004 | TNC | c.318-4203T>G c.3215-4203T>G (n.3215-4203T>G) c.3902T>G (p.Leu1301Arg) c.1934T>G (p.Leu645Arg) c.590T>G (p.Leu197Arg) c.3949T>G c.4991T>G (p.Leu1664Arg) c.4445T>G (p.Leu1482Arg) c.4307-4203T>G (n.4307-4203T>G) n.309T>G n.253-4203T>G n.40-4203T>G c.678T>G c.4718T>G (p.Leu1573Arg) c.4034-4203T>G (n.4034-4203T>G) c.3353T>G (p.Leu1118Arg) c.5267T>G (p.Leu1756Arg) c.3488-4203T>G (n.3488-4203T>G) c.4994T>G (p.Leu1665Arg) c.4448T>G (p.Leu1483Arg) c.4580-4203T>G (n.4580-4203T>G) c.4175T>G (p.Leu1392Arg) c.3761-4203T>G (n.3761-4203T>G) c.3626T>G (p.Leu1209Arg) c.5540T>G (p.Leu1847Arg) c.5264T>G (p.Leu1755Arg) | COSMIC |
9 | g.115046544A>G | CA374631006 | TNC | c.318-4203T>C c.3215-4203T>C (n.3215-4203T>C) c.3902T>C (p.Leu1301Pro) c.1934T>C (p.Leu645Pro) c.590T>C (p.Leu197Pro) c.3949T>C c.4991T>C (p.Leu1664Pro) c.4445T>C (p.Leu1482Pro) c.4307-4203T>C (n.4307-4203T>C) n.309T>C n.253-4203T>C n.40-4203T>C c.678T>C c.4718T>C (p.Leu1573Pro) c.4034-4203T>C (n.4034-4203T>C) c.3353T>C (p.Leu1118Pro) c.5267T>C (p.Leu1756Pro) c.3488-4203T>C (n.3488-4203T>C) c.4994T>C (p.Leu1665Pro) c.4448T>C (p.Leu1483Pro) c.4580-4203T>C (n.4580-4203T>C) c.4175T>C (p.Leu1392Pro) c.3761-4203T>C (n.3761-4203T>C) c.3626T>C (p.Leu1209Pro) c.5540T>C (p.Leu1847Pro) c.5264T>C (p.Leu1755Pro) | |
9 | g.115046544A>T | CA374631007 | TNC | c.318-4203T>A c.3215-4203T>A (n.3215-4203T>A) c.3902T>A (p.Leu1301Gln) c.1934T>A (p.Leu645Gln) c.590T>A (p.Leu197Gln) c.3949T>A c.4991T>A (p.Leu1664Gln) c.4445T>A (p.Leu1482Gln) c.4307-4203T>A (n.4307-4203T>A) n.309T>A n.253-4203T>A n.40-4203T>A c.678T>A c.4718T>A (p.Leu1573Gln) c.4034-4203T>A (n.4034-4203T>A) c.3353T>A (p.Leu1118Gln) c.5267T>A (p.Leu1756Gln) c.3488-4203T>A (n.3488-4203T>A) c.4994T>A (p.Leu1665Gln) c.4448T>A (p.Leu1483Gln) c.4580-4203T>A (n.4580-4203T>A) c.4175T>A (p.Leu1392Gln) c.3761-4203T>A (n.3761-4203T>A) c.3626T>A (p.Leu1209Gln) c.5540T>A (p.Leu1847Gln) c.5264T>A (p.Leu1755Gln) | |
9 | g.115046545G>A | CA466912468 | TNC | c.318-4204C>T c.3215-4204C>T (n.3215-4204C>T) c.3901C>T (p.Leu1301=) c.1933C>T (p.Leu645=) c.589C>T (p.Leu197=) c.3948C>T c.4990C>T (p.Leu1664=) c.4444C>T (p.Leu1482=) c.4307-4204C>T (n.4307-4204C>T) n.308C>T n.253-4204C>T n.40-4204C>T c.677C>T c.4717C>T (p.Leu1573=) c.4034-4204C>T (n.4034-4204C>T) c.3352C>T (p.Leu1118=) c.5266C>T (p.Leu1756=) c.3488-4204C>T (n.3488-4204C>T) c.4993C>T (p.Leu1665=) c.4447C>T (p.Leu1483=) c.4580-4204C>T (n.4580-4204C>T) c.4174C>T (p.Leu1392=) c.3761-4204C>T (n.3761-4204C>T) c.3625C>T (p.Leu1209=) c.5539C>T (p.Leu1847=) c.5263C>T (p.Leu1755=) | |
9 | g.115046545G>C | CA374631009 | TNC | c.318-4204C>G c.3215-4204C>G (n.3215-4204C>G) c.3901C>G (p.Leu1301Val) c.1933C>G (p.Leu645Val) c.589C>G (p.Leu197Val) c.3948C>G c.4990C>G (p.Leu1664Val) c.4444C>G (p.Leu1482Val) c.4307-4204C>G (n.4307-4204C>G) n.308C>G n.253-4204C>G n.40-4204C>G c.677C>G c.4717C>G (p.Leu1573Val) c.4034-4204C>G (n.4034-4204C>G) c.3352C>G (p.Leu1118Val) c.5266C>G (p.Leu1756Val) c.3488-4204C>G (n.3488-4204C>G) c.4993C>G (p.Leu1665Val) c.4447C>G (p.Leu1483Val) c.4580-4204C>G (n.4580-4204C>G) c.4174C>G (p.Leu1392Val) c.3761-4204C>G (n.3761-4204C>G) c.3625C>G (p.Leu1209Val) c.5539C>G (p.Leu1847Val) c.5263C>G (p.Leu1755Val) | |
9 | g.115046545G>T | CA374631010 | TNC | c.318-4204C>A c.3215-4204C>A (n.3215-4204C>A) c.3901C>A (p.Leu1301Met) c.1933C>A (p.Leu645Met) c.589C>A (p.Leu197Met) c.3948C>A c.4990C>A (p.Leu1664Met) c.4444C>A (p.Leu1482Met) c.4307-4204C>A (n.4307-4204C>A) n.308C>A n.253-4204C>A n.40-4204C>A c.677C>A c.4717C>A (p.Leu1573Met) c.4034-4204C>A (n.4034-4204C>A) c.3352C>A (p.Leu1118Met) c.5266C>A (p.Leu1756Met) c.3488-4204C>A (n.3488-4204C>A) c.4993C>A (p.Leu1665Met) c.4447C>A (p.Leu1483Met) c.4580-4204C>A (n.4580-4204C>A) c.4174C>A (p.Leu1392Met) c.3761-4204C>A (n.3761-4204C>A) c.3625C>A (p.Leu1209Met) c.5539C>A (p.Leu1847Met) c.5263C>A (p.Leu1755Met) | |
9 | g.115046546T>A | CA466912470 | TNC | c.318-4205A>T c.3215-4205A>T (n.3215-4205A>T) c.3900A>T (p.Pro1300=) c.1932A>T (p.Pro644=) c.588A>T (p.Pro196=) c.3947A>T c.4989A>T (p.Pro1663=) c.4443A>T (p.Pro1481=) c.4307-4205A>T (n.4307-4205A>T) n.307A>T n.253-4205A>T n.40-4205A>T c.676A>T c.4716A>T (p.Pro1572=) c.4034-4205A>T (n.4034-4205A>T) c.3351A>T (p.Pro1117=) c.5265A>T (p.Pro1755=) c.3488-4205A>T (n.3488-4205A>T) c.4992A>T (p.Pro1664=) c.4446A>T (p.Pro1482=) c.4580-4205A>T (n.4580-4205A>T) c.4173A>T (p.Pro1391=) c.3761-4205A>T (n.3761-4205A>T) c.3624A>T (p.Pro1208=) c.5538A>T (p.Pro1846=) c.5262A>T (p.Pro1754=) | |
9 | g.115046546T>C | CA5207774 | TNC | c.318-4205A>G c.3215-4205A>G (n.3215-4205A>G) c.3900A>G (p.Pro1300=) c.1932A>G (p.Pro644=) c.588A>G (p.Pro196=) c.3947A>G c.4989A>G (p.Pro1663=) c.4443A>G (p.Pro1481=) c.4307-4205A>G (n.4307-4205A>G) n.307A>G n.253-4205A>G n.40-4205A>G c.676A>G c.4716A>G (p.Pro1572=) c.4034-4205A>G (n.4034-4205A>G) c.3351A>G (p.Pro1117=) c.5265A>G (p.Pro1755=) c.3488-4205A>G (n.3488-4205A>G) c.4992A>G (p.Pro1664=) c.4446A>G (p.Pro1482=) c.4580-4205A>G (n.4580-4205A>G) c.4173A>G (p.Pro1391=) c.3761-4205A>G (n.3761-4205A>G) c.3624A>G (p.Pro1208=) c.5538A>G (p.Pro1846=) c.5262A>G (p.Pro1754=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.115046546T>G | CA466912471 | TNC | c.318-4205A>C c.3215-4205A>C (n.3215-4205A>C) c.3900A>C (p.Pro1300=) c.1932A>C (p.Pro644=) c.588A>C (p.Pro196=) c.3947A>C c.4989A>C (p.Pro1663=) c.4443A>C (p.Pro1481=) c.4307-4205A>C (n.4307-4205A>C) n.307A>C n.253-4205A>C n.40-4205A>C c.676A>C c.4716A>C (p.Pro1572=) c.4034-4205A>C (n.4034-4205A>C) c.3351A>C (p.Pro1117=) c.5265A>C (p.Pro1755=) c.3488-4205A>C (n.3488-4205A>C) c.4992A>C (p.Pro1664=) c.4446A>C (p.Pro1482=) c.4580-4205A>C (n.4580-4205A>C) c.4173A>C (p.Pro1391=) c.3761-4205A>C (n.3761-4205A>C) c.3624A>C (p.Pro1208=) c.5538A>C (p.Pro1846=) c.5262A>C (p.Pro1754=) | |
9 | g.115046546T= | CA1874118905 | TNC | c.318-4205A= c.3215-4205A= (n.3215-4205A=) c.3900A= (p.Pro1300=) c.1932A= (p.Pro644=) c.588A= (p.Pro196=) c.3947A= c.4989A= (p.Pro1663=) c.4443A= (p.Pro1481=) c.4307-4205A= (n.4307-4205A=) n.307A= n.253-4205A= n.40-4205A= c.676A= c.4716A= (p.Pro1572=) c.4034-4205A= (n.4034-4205A=) c.3351A= (p.Pro1117=) c.5265A= (p.Pro1755=) c.3488-4205A= (n.3488-4205A=) c.4992A= (p.Pro1664=) c.4446A= (p.Pro1482=) c.4580-4205A= (n.4580-4205A=) c.4173A= (p.Pro1391=) c.3761-4205A= (n.3761-4205A=) c.3624A= (p.Pro1208=) c.5538A= (p.Pro1846=) c.5262A= (p.Pro1754=) | |
9 | g.115046547G>A | CA374631014 | TNC | c.318-4206C>T c.3215-4206C>T (n.3215-4206C>T) c.3899C>T (p.Pro1300Leu) c.1931C>T (p.Pro644Leu) c.587C>T (p.Pro196Leu) c.3946C>T c.4988C>T (p.Pro1663Leu) c.4442C>T (p.Pro1481Leu) c.4307-4206C>T (n.4307-4206C>T) n.306C>T n.253-4206C>T n.40-4206C>T c.675C>T c.4715C>T (p.Pro1572Leu) c.4034-4206C>T (n.4034-4206C>T) c.3350C>T (p.Pro1117Leu) c.5264C>T (p.Pro1755Leu) c.3488-4206C>T (n.3488-4206C>T) c.4991C>T (p.Pro1664Leu) c.4445C>T (p.Pro1482Leu) c.4580-4206C>T (n.4580-4206C>T) c.4172C>T (p.Pro1391Leu) c.3761-4206C>T (n.3761-4206C>T) c.3623C>T (p.Pro1208Leu) c.5537C>T (p.Pro1846Leu) c.5261C>T (p.Pro1754Leu) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.115046547G>C | CA374631012 | TNC | c.318-4206C>G c.3215-4206C>G (n.3215-4206C>G) c.3899C>G (p.Pro1300Arg) c.1931C>G (p.Pro644Arg) c.587C>G (p.Pro196Arg) c.3946C>G c.4988C>G (p.Pro1663Arg) c.4442C>G (p.Pro1481Arg) c.4307-4206C>G (n.4307-4206C>G) n.306C>G n.253-4206C>G n.40-4206C>G c.675C>G c.4715C>G (p.Pro1572Arg) c.4034-4206C>G (n.4034-4206C>G) c.3350C>G (p.Pro1117Arg) c.5264C>G (p.Pro1755Arg) c.3488-4206C>G (n.3488-4206C>G) c.4991C>G (p.Pro1664Arg) c.4445C>G (p.Pro1482Arg) c.4580-4206C>G (n.4580-4206C>G) c.4172C>G (p.Pro1391Arg) c.3761-4206C>G (n.3761-4206C>G) c.3623C>G (p.Pro1208Arg) c.5537C>G (p.Pro1846Arg) c.5261C>G (p.Pro1754Arg) | |
9 | g.115046547G= | CA1874118906 | TNC | c.318-4206C= c.3215-4206C= (n.3215-4206C=) c.3899C= (p.Pro1300=) c.1931C= (p.Pro644=) c.587C= (p.Pro196=) c.3946C= c.4988C= (p.Pro1663=) c.4442C= (p.Pro1481=) c.4307-4206C= (n.4307-4206C=) n.306C= n.253-4206C= n.40-4206C= c.675C= c.4715C= (p.Pro1572=) c.4034-4206C= (n.4034-4206C=) c.3350C= (p.Pro1117=) c.5264C= (p.Pro1755=) c.3488-4206C= (n.3488-4206C=) c.4991C= (p.Pro1664=) c.4445C= (p.Pro1482=) c.4580-4206C= (n.4580-4206C=) c.4172C= (p.Pro1391=) c.3761-4206C= (n.3761-4206C=) c.3623C= (p.Pro1208=) c.5537C= (p.Pro1846=) c.5261C= (p.Pro1754=) | |
9 | g.115046547G>T | CA374631015 | TNC | c.318-4206C>A c.3215-4206C>A (n.3215-4206C>A) c.3899C>A (p.Pro1300Gln) c.1931C>A (p.Pro644Gln) c.587C>A (p.Pro196Gln) c.3946C>A c.4988C>A (p.Pro1663Gln) c.4442C>A (p.Pro1481Gln) c.4307-4206C>A (n.4307-4206C>A) n.306C>A n.253-4206C>A n.40-4206C>A c.675C>A c.4715C>A (p.Pro1572Gln) c.4034-4206C>A (n.4034-4206C>A) c.3350C>A (p.Pro1117Gln) c.5264C>A (p.Pro1755Gln) c.3488-4206C>A (n.3488-4206C>A) c.4991C>A (p.Pro1664Gln) c.4445C>A (p.Pro1482Gln) c.4580-4206C>A (n.4580-4206C>A) c.4172C>A (p.Pro1391Gln) c.3761-4206C>A (n.3761-4206C>A) c.3623C>A (p.Pro1208Gln) c.5537C>A (p.Pro1846Gln) c.5261C>A (p.Pro1754Gln) | |
9 | g.115046548G>A | CA374631017 | TNC | c.318-4207C>T c.3215-4207C>T (n.3215-4207C>T) c.3898C>T (p.Pro1300Ser) c.1930C>T (p.Pro644Ser) c.586C>T (p.Pro196Ser) c.3945C>T c.4987C>T (p.Pro1663Ser) c.4441C>T (p.Pro1481Ser) c.4307-4207C>T (n.4307-4207C>T) n.305C>T n.253-4207C>T n.40-4207C>T c.674C>T c.4714C>T (p.Pro1572Ser) c.4034-4207C>T (n.4034-4207C>T) c.3349C>T (p.Pro1117Ser) c.5263C>T (p.Pro1755Ser) c.3488-4207C>T (n.3488-4207C>T) c.4990C>T (p.Pro1664Ser) c.4444C>T (p.Pro1482Ser) c.4580-4207C>T (n.4580-4207C>T) c.4171C>T (p.Pro1391Ser) c.3761-4207C>T (n.3761-4207C>T) c.3622C>T (p.Pro1208Ser) c.5536C>T (p.Pro1846Ser) c.5260C>T (p.Pro1754Ser) | |
9 | g.115046548G>C | CA374631018 | TNC | c.318-4207C>G c.3215-4207C>G (n.3215-4207C>G) c.3898C>G (p.Pro1300Ala) c.1930C>G (p.Pro644Ala) c.586C>G (p.Pro196Ala) c.3945C>G c.4987C>G (p.Pro1663Ala) c.4441C>G (p.Pro1481Ala) c.4307-4207C>G (n.4307-4207C>G) n.305C>G n.253-4207C>G n.40-4207C>G c.674C>G c.4714C>G (p.Pro1572Ala) c.4034-4207C>G (n.4034-4207C>G) c.3349C>G (p.Pro1117Ala) c.5263C>G (p.Pro1755Ala) c.3488-4207C>G (n.3488-4207C>G) c.4990C>G (p.Pro1664Ala) c.4444C>G (p.Pro1482Ala) c.4580-4207C>G (n.4580-4207C>G) c.4171C>G (p.Pro1391Ala) c.3761-4207C>G (n.3761-4207C>G) c.3622C>G (p.Pro1208Ala) c.5536C>G (p.Pro1846Ala) c.5260C>G (p.Pro1754Ala) | |
9 | g.115046548G= | CA1874118907 | TNC | c.318-4207C= c.3215-4207C= (n.3215-4207C=) c.3898C= (p.Pro1300=) c.1930C= (p.Pro644=) c.586C= (p.Pro196=) c.3945C= c.4987C= (p.Pro1663=) c.4441C= (p.Pro1481=) c.4307-4207C= (n.4307-4207C=) n.305C= n.253-4207C= n.40-4207C= c.674C= c.4714C= (p.Pro1572=) c.4034-4207C= (n.4034-4207C=) c.3349C= (p.Pro1117=) c.5263C= (p.Pro1755=) c.3488-4207C= (n.3488-4207C=) c.4990C= (p.Pro1664=) c.4444C= (p.Pro1482=) c.4580-4207C= (n.4580-4207C=) c.4171C= (p.Pro1391=) c.3761-4207C= (n.3761-4207C=) c.3622C= (p.Pro1208=) c.5536C= (p.Pro1846=) c.5260C= (p.Pro1754=) | |
9 | g.115046548G>T | CA5207775 | TNC | c.318-4207C>A c.3215-4207C>A (n.3215-4207C>A) c.3898C>A (p.Pro1300Thr) c.1930C>A (p.Pro644Thr) c.586C>A (p.Pro196Thr) c.3945C>A c.4987C>A (p.Pro1663Thr) c.4441C>A (p.Pro1481Thr) c.4307-4207C>A (n.4307-4207C>A) n.305C>A n.253-4207C>A n.40-4207C>A c.674C>A c.4714C>A (p.Pro1572Thr) c.4034-4207C>A (n.4034-4207C>A) c.3349C>A (p.Pro1117Thr) c.5263C>A (p.Pro1755Thr) c.3488-4207C>A (n.3488-4207C>A) c.4990C>A (p.Pro1664Thr) c.4444C>A (p.Pro1482Thr) c.4580-4207C>A (n.4580-4207C>A) c.4171C>A (p.Pro1391Thr) c.3761-4207C>A (n.3761-4207C>A) c.3622C>A (p.Pro1208Thr) c.5536C>A (p.Pro1846Thr) c.5260C>A (p.Pro1754Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.115046549C>A | CA374631021 | TNC | c.318-4208G>T c.3215-4208G>T (n.3215-4208G>T) c.3897G>T (p.Glu1299Asp) c.1929G>T (p.Glu643Asp) c.585G>T (p.Glu195Asp) c.3944G>T c.4986G>T (p.Glu1662Asp) c.4440G>T (p.Glu1480Asp) c.4307-4208G>T (n.4307-4208G>T) n.304G>T n.253-4208G>T n.40-4208G>T c.673G>T c.4713G>T (p.Glu1571Asp) c.4034-4208G>T (n.4034-4208G>T) c.3348G>T (p.Glu1116Asp) c.5262G>T (p.Glu1754Asp) c.3488-4208G>T (n.3488-4208G>T) c.4989G>T (p.Glu1663Asp) c.4443G>T (p.Glu1481Asp) c.4580-4208G>T (n.4580-4208G>T) c.4170G>T (p.Glu1390Asp) c.3761-4208G>T (n.3761-4208G>T) c.3621G>T (p.Glu1207Asp) c.5535G>T (p.Glu1845Asp) c.5259G>T (p.Glu1753Asp) | |
9 | g.115046549C>G | CA374631022 | TNC | c.318-4208G>C c.3215-4208G>C (n.3215-4208G>C) c.3897G>C (p.Glu1299Asp) c.1929G>C (p.Glu643Asp) c.585G>C (p.Glu195Asp) c.3944G>C c.4986G>C (p.Glu1662Asp) c.4440G>C (p.Glu1480Asp) c.4307-4208G>C (n.4307-4208G>C) n.304G>C n.253-4208G>C n.40-4208G>C c.673G>C c.4713G>C (p.Glu1571Asp) c.4034-4208G>C (n.4034-4208G>C) c.3348G>C (p.Glu1116Asp) c.5262G>C (p.Glu1754Asp) c.3488-4208G>C (n.3488-4208G>C) c.4989G>C (p.Glu1663Asp) c.4443G>C (p.Glu1481Asp) c.4580-4208G>C (n.4580-4208G>C) c.4170G>C (p.Glu1390Asp) c.3761-4208G>C (n.3761-4208G>C) c.3621G>C (p.Glu1207Asp) c.5535G>C (p.Glu1845Asp) c.5259G>C (p.Glu1753Asp) | |
9 | g.115046549C>T | CA466912472 | TNC | c.318-4208G>A c.3215-4208G>A (n.3215-4208G>A) c.3897G>A (p.Glu1299=) c.1929G>A (p.Glu643=) c.585G>A (p.Glu195=) c.3944G>A c.4986G>A (p.Glu1662=) c.4440G>A (p.Glu1480=) c.4307-4208G>A (n.4307-4208G>A) n.304G>A n.253-4208G>A n.40-4208G>A c.673G>A c.4713G>A (p.Glu1571=) c.4034-4208G>A (n.4034-4208G>A) c.3348G>A (p.Glu1116=) c.5262G>A (p.Glu1754=) c.3488-4208G>A (n.3488-4208G>A) c.4989G>A (p.Glu1663=) c.4443G>A (p.Glu1481=) c.4580-4208G>A (n.4580-4208G>A) c.4170G>A (p.Glu1390=) c.3761-4208G>A (n.3761-4208G>A) c.3621G>A (p.Glu1207=) c.5535G>A (p.Glu1845=) c.5259G>A (p.Glu1753=) | |
9 | g.115046550T>A | CA374631024 | TNC | c.318-4209A>T c.3215-4209A>T (n.3215-4209A>T) c.3896A>T (p.Glu1299Val) c.1928A>T (p.Glu643Val) c.584A>T (p.Glu195Val) c.3943A>T c.4985A>T (p.Glu1662Val) c.4439A>T (p.Glu1480Val) c.4307-4209A>T (n.4307-4209A>T) n.303A>T n.253-4209A>T n.40-4209A>T c.672A>T c.4712A>T (p.Glu1571Val) c.4034-4209A>T (n.4034-4209A>T) c.3347A>T (p.Glu1116Val) c.5261A>T (p.Glu1754Val) c.3488-4209A>T (n.3488-4209A>T) c.4988A>T (p.Glu1663Val) c.4442A>T (p.Glu1481Val) c.4580-4209A>T (n.4580-4209A>T) c.4169A>T (p.Glu1390Val) c.3761-4209A>T (n.3761-4209A>T) c.3620A>T (p.Glu1207Val) c.5534A>T (p.Glu1845Val) c.5258A>T (p.Glu1753Val) | |
9 | g.115046550T>C | CA374631025 | TNC | c.318-4209A>G c.3215-4209A>G (n.3215-4209A>G) c.3896A>G (p.Glu1299Gly) c.1928A>G (p.Glu643Gly) c.584A>G (p.Glu195Gly) c.3943A>G c.4985A>G (p.Glu1662Gly) c.4439A>G (p.Glu1480Gly) c.4307-4209A>G (n.4307-4209A>G) n.303A>G n.253-4209A>G n.40-4209A>G c.672A>G c.4712A>G (p.Glu1571Gly) c.4034-4209A>G (n.4034-4209A>G) c.3347A>G (p.Glu1116Gly) c.5261A>G (p.Glu1754Gly) c.3488-4209A>G (n.3488-4209A>G) c.4988A>G (p.Glu1663Gly) c.4442A>G (p.Glu1481Gly) c.4580-4209A>G (n.4580-4209A>G) c.4169A>G (p.Glu1390Gly) c.3761-4209A>G (n.3761-4209A>G) c.3620A>G (p.Glu1207Gly) c.5534A>G (p.Glu1845Gly) c.5258A>G (p.Glu1753Gly) | |
9 | g.115046550T>G | CA374631027 | TNC | c.318-4209A>C c.3215-4209A>C (n.3215-4209A>C) c.3896A>C (p.Glu1299Ala) c.1928A>C (p.Glu643Ala) c.584A>C (p.Glu195Ala) c.3943A>C c.4985A>C (p.Glu1662Ala) c.4439A>C (p.Glu1480Ala) c.4307-4209A>C (n.4307-4209A>C) n.303A>C n.253-4209A>C n.40-4209A>C c.672A>C c.4712A>C (p.Glu1571Ala) c.4034-4209A>C (n.4034-4209A>C) c.3347A>C (p.Glu1116Ala) c.5261A>C (p.Glu1754Ala) c.3488-4209A>C (n.3488-4209A>C) c.4988A>C (p.Glu1663Ala) c.4442A>C (p.Glu1481Ala) c.4580-4209A>C (n.4580-4209A>C) c.4169A>C (p.Glu1390Ala) c.3761-4209A>C (n.3761-4209A>C) c.3620A>C (p.Glu1207Ala) c.5534A>C (p.Glu1845Ala) c.5258A>C (p.Glu1753Ala) | |
9 | g.115046551C>A | CA374631029 | TNC | c.318-4210G>T c.3215-4210G>T (n.3215-4210G>T) c.3895G>T (p.Glu1299Ter) c.1927G>T (p.Glu643Ter) c.583G>T (p.Glu195Ter) c.3942G>T c.4984G>T (p.Glu1662Ter) c.4438G>T (p.Glu1480Ter) c.4307-4210G>T (n.4307-4210G>T) n.302G>T n.253-4210G>T n.40-4210G>T c.671G>T c.4711G>T (p.Glu1571Ter) c.4034-4210G>T (n.4034-4210G>T) c.3346G>T (p.Glu1116Ter) c.5260G>T (p.Glu1754Ter) c.3488-4210G>T (n.3488-4210G>T) c.4987G>T (p.Glu1663Ter) c.4441G>T (p.Glu1481Ter) c.4580-4210G>T (n.4580-4210G>T) c.4168G>T (p.Glu1390Ter) c.3761-4210G>T (n.3761-4210G>T) c.3619G>T (p.Glu1207Ter) c.5533G>T (p.Glu1845Ter) c.5257G>T (p.Glu1753Ter) | |
9 | g.115046551C>G | CA374631031 | TNC | c.318-4210G>C c.3215-4210G>C (n.3215-4210G>C) c.3895G>C (p.Glu1299Gln) c.1927G>C (p.Glu643Gln) c.583G>C (p.Glu195Gln) c.3942G>C c.4984G>C (p.Glu1662Gln) c.4438G>C (p.Glu1480Gln) c.4307-4210G>C (n.4307-4210G>C) n.302G>C n.253-4210G>C n.40-4210G>C c.671G>C c.4711G>C (p.Glu1571Gln) c.4034-4210G>C (n.4034-4210G>C) c.3346G>C (p.Glu1116Gln) c.5260G>C (p.Glu1754Gln) c.3488-4210G>C (n.3488-4210G>C) c.4987G>C (p.Glu1663Gln) c.4441G>C (p.Glu1481Gln) c.4580-4210G>C (n.4580-4210G>C) c.4168G>C (p.Glu1390Gln) c.3761-4210G>C (n.3761-4210G>C) c.3619G>C (p.Glu1207Gln) c.5533G>C (p.Glu1845Gln) c.5257G>C (p.Glu1753Gln) | |
9 | g.115046551C>T | CA374631032 | TNC | c.318-4210G>A c.3215-4210G>A (n.3215-4210G>A) c.3895G>A (p.Glu1299Lys) c.1927G>A (p.Glu643Lys) c.583G>A (p.Glu195Lys) c.3942G>A c.4984G>A (p.Glu1662Lys) c.4438G>A (p.Glu1480Lys) c.4307-4210G>A (n.4307-4210G>A) n.302G>A n.253-4210G>A n.40-4210G>A c.671G>A c.4711G>A (p.Glu1571Lys) c.4034-4210G>A (n.4034-4210G>A) c.3346G>A (p.Glu1116Lys) c.5260G>A (p.Glu1754Lys) c.3488-4210G>A (n.3488-4210G>A) c.4987G>A (p.Glu1663Lys) c.4441G>A (p.Glu1481Lys) c.4580-4210G>A (n.4580-4210G>A) c.4168G>A (p.Glu1390Lys) c.3761-4210G>A (n.3761-4210G>A) c.3619G>A (p.Glu1207Lys) c.5533G>A (p.Glu1845Lys) c.5257G>A (p.Glu1753Lys) | gnomAD v4 |
9 | g.115046552A>C | CA466912473 | TNC | c.318-4211T>G c.3215-4211T>G (n.3215-4211T>G) c.3894T>G (p.Ser1298=) c.1926T>G (p.Ser642=) c.582T>G (p.Ser194=) c.3941T>G c.4983T>G (p.Ser1661=) c.4437T>G (p.Ser1479=) c.4307-4211T>G (n.4307-4211T>G) n.301T>G n.253-4211T>G n.40-4211T>G c.670T>G c.4710T>G (p.Ser1570=) c.4034-4211T>G (n.4034-4211T>G) c.3345T>G (p.Ser1115=) c.5259T>G (p.Ser1753=) c.3488-4211T>G (n.3488-4211T>G) c.4986T>G (p.Ser1662=) c.4440T>G (p.Ser1480=) c.4580-4211T>G (n.4580-4211T>G) c.4167T>G (p.Ser1389=) c.3761-4211T>G (n.3761-4211T>G) c.3618T>G (p.Ser1206=) c.5532T>G (p.Ser1844=) c.5256T>G (p.Ser1752=) | COSMIC |
9 | g.115046552A>G | CA466912474 | TNC | c.318-4211T>C c.3215-4211T>C (n.3215-4211T>C) c.3894T>C (p.Ser1298=) c.1926T>C (p.Ser642=) c.582T>C (p.Ser194=) c.3941T>C c.4983T>C (p.Ser1661=) c.4437T>C (p.Ser1479=) c.4307-4211T>C (n.4307-4211T>C) n.301T>C n.253-4211T>C n.40-4211T>C c.670T>C c.4710T>C (p.Ser1570=) c.4034-4211T>C (n.4034-4211T>C) c.3345T>C (p.Ser1115=) c.5259T>C (p.Ser1753=) c.3488-4211T>C (n.3488-4211T>C) c.4986T>C (p.Ser1662=) c.4440T>C (p.Ser1480=) c.4580-4211T>C (n.4580-4211T>C) c.4167T>C (p.Ser1389=) c.3761-4211T>C (n.3761-4211T>C) c.3618T>C (p.Ser1206=) c.5532T>C (p.Ser1844=) c.5256T>C (p.Ser1752=) | |
9 | g.115046552A>T | CA466912476 | TNC | c.318-4211T>A c.3215-4211T>A (n.3215-4211T>A) c.3894T>A (p.Ser1298=) c.1926T>A (p.Ser642=) c.582T>A (p.Ser194=) c.3941T>A c.4983T>A (p.Ser1661=) c.4437T>A (p.Ser1479=) c.4307-4211T>A (n.4307-4211T>A) n.301T>A n.253-4211T>A n.40-4211T>A c.670T>A c.4710T>A (p.Ser1570=) c.4034-4211T>A (n.4034-4211T>A) c.3345T>A (p.Ser1115=) c.5259T>A (p.Ser1753=) c.3488-4211T>A (n.3488-4211T>A) c.4986T>A (p.Ser1662=) c.4440T>A (p.Ser1480=) c.4580-4211T>A (n.4580-4211T>A) c.4167T>A (p.Ser1389=) c.3761-4211T>A (n.3761-4211T>A) c.3618T>A (p.Ser1206=) c.5532T>A (p.Ser1844=) c.5256T>A (p.Ser1752=) | |
9 | g.115046553G>A | CA374631036 | TNC | c.318-4212C>T c.3215-4212C>T (n.3215-4212C>T) c.3893C>T (p.Ser1298Phe) c.1925C>T (p.Ser642Phe) c.581C>T (p.Ser194Phe) c.3940C>T c.4982C>T (p.Ser1661Phe) c.4436C>T (p.Ser1479Phe) c.4307-4212C>T (n.4307-4212C>T) n.300C>T n.253-4212C>T n.40-4212C>T c.669C>T c.4709C>T (p.Ser1570Phe) c.4034-4212C>T (n.4034-4212C>T) c.3344C>T (p.Ser1115Phe) c.5258C>T (p.Ser1753Phe) c.3488-4212C>T (n.3488-4212C>T) c.4985C>T (p.Ser1662Phe) c.4439C>T (p.Ser1480Phe) c.4580-4212C>T (n.4580-4212C>T) c.4166C>T (p.Ser1389Phe) c.3761-4212C>T (n.3761-4212C>T) c.3617C>T (p.Ser1206Phe) c.5531C>T (p.Ser1844Phe) c.5255C>T (p.Ser1752Phe) | |
9 | g.115046553G>C | CA374631035 | TNC | c.318-4212C>G c.3215-4212C>G (n.3215-4212C>G) c.3893C>G (p.Ser1298Cys) c.1925C>G (p.Ser642Cys) c.581C>G (p.Ser194Cys) c.3940C>G c.4982C>G (p.Ser1661Cys) c.4436C>G (p.Ser1479Cys) c.4307-4212C>G (n.4307-4212C>G) n.300C>G n.253-4212C>G n.40-4212C>G c.669C>G c.4709C>G (p.Ser1570Cys) c.4034-4212C>G (n.4034-4212C>G) c.3344C>G (p.Ser1115Cys) c.5258C>G (p.Ser1753Cys) c.3488-4212C>G (n.3488-4212C>G) c.4985C>G (p.Ser1662Cys) c.4439C>G (p.Ser1480Cys) c.4580-4212C>G (n.4580-4212C>G) c.4166C>G (p.Ser1389Cys) c.3761-4212C>G (n.3761-4212C>G) c.3617C>G (p.Ser1206Cys) c.5531C>G (p.Ser1844Cys) c.5255C>G (p.Ser1752Cys) | |
9 | g.115046553G>T | CA374631033 | TNC | c.318-4212C>A c.3215-4212C>A (n.3215-4212C>A) c.3893C>A (p.Ser1298Tyr) c.1925C>A (p.Ser642Tyr) c.581C>A (p.Ser194Tyr) c.3940C>A c.4982C>A (p.Ser1661Tyr) c.4436C>A (p.Ser1479Tyr) c.4307-4212C>A (n.4307-4212C>A) n.300C>A n.253-4212C>A n.40-4212C>A c.669C>A c.4709C>A (p.Ser1570Tyr) c.4034-4212C>A (n.4034-4212C>A) c.3344C>A (p.Ser1115Tyr) c.5258C>A (p.Ser1753Tyr) c.3488-4212C>A (n.3488-4212C>A) c.4985C>A (p.Ser1662Tyr) c.4439C>A (p.Ser1480Tyr) c.4580-4212C>A (n.4580-4212C>A) c.4166C>A (p.Ser1389Tyr) c.3761-4212C>A (n.3761-4212C>A) c.3617C>A (p.Ser1206Tyr) c.5531C>A (p.Ser1844Tyr) c.5255C>A (p.Ser1752Tyr) | |
9 | g.115046554A= | CA1874118908 | TNC | c.318-4213T= c.3215-4213T= (n.3215-4213T=) c.3892T= (p.Ser1298=) c.1924T= (p.Ser642=) c.580T= (p.Ser194=) c.3939T= c.4981T= (p.Ser1661=) c.4435T= (p.Ser1479=) c.4307-4213T= (n.4307-4213T=) n.299T= n.253-4213T= n.40-4213T= c.668T= c.4708T= (p.Ser1570=) c.4034-4213T= (n.4034-4213T=) c.3343T= (p.Ser1115=) c.5257T= (p.Ser1753=) c.3488-4213T= (n.3488-4213T=) c.4984T= (p.Ser1662=) c.4438T= (p.Ser1480=) c.4580-4213T= (n.4580-4213T=) c.4165T= (p.Ser1389=) c.3761-4213T= (n.3761-4213T=) c.3616T= (p.Ser1206=) c.5530T= (p.Ser1844=) c.5254T= (p.Ser1752=) | |
9 | g.115046554A>C | CA374631038 | TNC | c.318-4213T>G c.3215-4213T>G (n.3215-4213T>G) c.3892T>G (p.Ser1298Ala) c.1924T>G (p.Ser642Ala) c.580T>G (p.Ser194Ala) c.3939T>G c.4981T>G (p.Ser1661Ala) c.4435T>G (p.Ser1479Ala) c.4307-4213T>G (n.4307-4213T>G) n.299T>G n.253-4213T>G n.40-4213T>G c.668T>G c.4708T>G (p.Ser1570Ala) c.4034-4213T>G (n.4034-4213T>G) c.3343T>G (p.Ser1115Ala) c.5257T>G (p.Ser1753Ala) c.3488-4213T>G (n.3488-4213T>G) c.4984T>G (p.Ser1662Ala) c.4438T>G (p.Ser1480Ala) c.4580-4213T>G (n.4580-4213T>G) c.4165T>G (p.Ser1389Ala) c.3761-4213T>G (n.3761-4213T>G) c.3616T>G (p.Ser1206Ala) c.5530T>G (p.Ser1844Ala) c.5254T>G (p.Ser1752Ala) | |
9 | g.115046554A>G | CA374631039 | TNC | c.318-4213T>C c.3215-4213T>C (n.3215-4213T>C) c.3892T>C (p.Ser1298Pro) c.1924T>C (p.Ser642Pro) c.580T>C (p.Ser194Pro) c.3939T>C c.4981T>C (p.Ser1661Pro) c.4435T>C (p.Ser1479Pro) c.4307-4213T>C (n.4307-4213T>C) n.299T>C n.253-4213T>C n.40-4213T>C c.668T>C c.4708T>C (p.Ser1570Pro) c.4034-4213T>C (n.4034-4213T>C) c.3343T>C (p.Ser1115Pro) c.5257T>C (p.Ser1753Pro) c.3488-4213T>C (n.3488-4213T>C) c.4984T>C (p.Ser1662Pro) c.4438T>C (p.Ser1480Pro) c.4580-4213T>C (n.4580-4213T>C) c.4165T>C (p.Ser1389Pro) c.3761-4213T>C (n.3761-4213T>C) c.3616T>C (p.Ser1206Pro) c.5530T>C (p.Ser1844Pro) c.5254T>C (p.Ser1752Pro) | |
9 | g.115046554A>T | CA374631040 | TNC | c.318-4213T>A c.3215-4213T>A (n.3215-4213T>A) c.3892T>A (p.Ser1298Thr) c.1924T>A (p.Ser642Thr) c.580T>A (p.Ser194Thr) c.3939T>A c.4981T>A (p.Ser1661Thr) c.4435T>A (p.Ser1479Thr) c.4307-4213T>A (n.4307-4213T>A) n.299T>A n.253-4213T>A n.40-4213T>A c.668T>A c.4708T>A (p.Ser1570Thr) c.4034-4213T>A (n.4034-4213T>A) c.3343T>A (p.Ser1115Thr) c.5257T>A (p.Ser1753Thr) c.3488-4213T>A (n.3488-4213T>A) c.4984T>A (p.Ser1662Thr) c.4438T>A (p.Ser1480Thr) c.4580-4213T>A (n.4580-4213T>A) c.4165T>A (p.Ser1389Thr) c.3761-4213T>A (n.3761-4213T>A) c.3616T>A (p.Ser1206Thr) c.5530T>A (p.Ser1844Thr) c.5254T>A (p.Ser1752Thr) | dbSNP |
9 | g.115046555C>A | CA374631042 | TNC | c.318-4214G>T c.3215-4214G>T (n.3215-4214G>T) c.3891G>T (p.Gln1297His) c.1923G>T (p.Gln641His) c.579G>T (p.Gln193His) c.3938G>T c.4980G>T (p.Gln1660His) c.4434G>T (p.Gln1478His) c.4307-4214G>T (n.4307-4214G>T) n.298G>T n.253-4214G>T n.40-4214G>T c.667G>T c.4707G>T (p.Gln1569His) c.4034-4214G>T (n.4034-4214G>T) c.3342G>T (p.Gln1114His) c.5256G>T (p.Gln1752His) c.3488-4214G>T (n.3488-4214G>T) c.4983G>T (p.Gln1661His) c.4437G>T (p.Gln1479His) c.4580-4214G>T (n.4580-4214G>T) c.4164G>T (p.Gln1388His) c.3761-4214G>T (n.3761-4214G>T) c.3615G>T (p.Gln1205His) c.5529G>T (p.Gln1843His) c.5253G>T (p.Gln1751His) | gnomAD v4 |
9 | g.115046555C>G | CA374631044 | TNC | c.318-4214G>C c.3215-4214G>C (n.3215-4214G>C) c.3891G>C (p.Gln1297His) c.1923G>C (p.Gln641His) c.579G>C (p.Gln193His) c.3938G>C c.4980G>C (p.Gln1660His) c.4434G>C (p.Gln1478His) c.4307-4214G>C (n.4307-4214G>C) n.298G>C n.253-4214G>C n.40-4214G>C c.667G>C c.4707G>C (p.Gln1569His) c.4034-4214G>C (n.4034-4214G>C) c.3342G>C (p.Gln1114His) c.5256G>C (p.Gln1752His) c.3488-4214G>C (n.3488-4214G>C) c.4983G>C (p.Gln1661His) c.4437G>C (p.Gln1479His) c.4580-4214G>C (n.4580-4214G>C) c.4164G>C (p.Gln1388His) c.3761-4214G>C (n.3761-4214G>C) c.3615G>C (p.Gln1205His) c.5529G>C (p.Gln1843His) c.5253G>C (p.Gln1751His) | gnomAD v4 |
9 | g.115046555C>T | CA466912478 | TNC | c.318-4214G>A c.3215-4214G>A (n.3215-4214G>A) c.3891G>A (p.Gln1297=) c.1923G>A (p.Gln641=) c.579G>A (p.Gln193=) c.3938G>A c.4980G>A (p.Gln1660=) c.4434G>A (p.Gln1478=) c.4307-4214G>A (n.4307-4214G>A) n.298G>A n.253-4214G>A n.40-4214G>A c.667G>A c.4707G>A (p.Gln1569=) c.4034-4214G>A (n.4034-4214G>A) c.3342G>A (p.Gln1114=) c.5256G>A (p.Gln1752=) c.3488-4214G>A (n.3488-4214G>A) c.4983G>A (p.Gln1661=) c.4437G>A (p.Gln1479=) c.4580-4214G>A (n.4580-4214G>A) c.4164G>A (p.Gln1388=) c.3761-4214G>A (n.3761-4214G>A) c.3615G>A (p.Gln1205=) c.5529G>A (p.Gln1843=) c.5253G>A (p.Gln1751=) | |
9 | g.115046556T>A | CA374631046 | TNC | c.318-4215A>T c.3215-4215A>T (n.3215-4215A>T) c.3890A>T (p.Gln1297Leu) c.1922A>T (p.Gln641Leu) c.578A>T (p.Gln193Leu) c.3937A>T c.4979A>T (p.Gln1660Leu) c.4433A>T (p.Gln1478Leu) c.4307-4215A>T (n.4307-4215A>T) n.297A>T n.253-4215A>T n.40-4215A>T c.666A>T c.4706A>T (p.Gln1569Leu) c.4034-4215A>T (n.4034-4215A>T) c.3341A>T (p.Gln1114Leu) c.5255A>T (p.Gln1752Leu) c.3488-4215A>T (n.3488-4215A>T) c.4982A>T (p.Gln1661Leu) c.4436A>T (p.Gln1479Leu) c.4580-4215A>T (n.4580-4215A>T) c.4163A>T (p.Gln1388Leu) c.3761-4215A>T (n.3761-4215A>T) c.3614A>T (p.Gln1205Leu) c.5528A>T (p.Gln1843Leu) c.5252A>T (p.Gln1751Leu) | |
9 | g.115046556T>C | CA374631048 | TNC | c.318-4215A>G c.3215-4215A>G (n.3215-4215A>G) c.3890A>G (p.Gln1297Arg) c.1922A>G (p.Gln641Arg) c.578A>G (p.Gln193Arg) c.3937A>G c.4979A>G (p.Gln1660Arg) c.4433A>G (p.Gln1478Arg) c.4307-4215A>G (n.4307-4215A>G) n.297A>G n.253-4215A>G n.40-4215A>G c.666A>G c.4706A>G (p.Gln1569Arg) c.4034-4215A>G (n.4034-4215A>G) c.3341A>G (p.Gln1114Arg) c.5255A>G (p.Gln1752Arg) c.3488-4215A>G (n.3488-4215A>G) c.4982A>G (p.Gln1661Arg) c.4436A>G (p.Gln1479Arg) c.4580-4215A>G (n.4580-4215A>G) c.4163A>G (p.Gln1388Arg) c.3761-4215A>G (n.3761-4215A>G) c.3614A>G (p.Gln1205Arg) c.5528A>G (p.Gln1843Arg) c.5252A>G (p.Gln1751Arg) | |
9 | g.115046556T>G | CA374631049 | TNC | c.318-4215A>C c.3215-4215A>C (n.3215-4215A>C) c.3890A>C (p.Gln1297Pro) c.1922A>C (p.Gln641Pro) c.578A>C (p.Gln193Pro) c.3937A>C c.4979A>C (p.Gln1660Pro) c.4433A>C (p.Gln1478Pro) c.4307-4215A>C (n.4307-4215A>C) n.297A>C n.253-4215A>C n.40-4215A>C c.666A>C c.4706A>C (p.Gln1569Pro) c.4034-4215A>C (n.4034-4215A>C) c.3341A>C (p.Gln1114Pro) c.5255A>C (p.Gln1752Pro) c.3488-4215A>C (n.3488-4215A>C) c.4982A>C (p.Gln1661Pro) c.4436A>C (p.Gln1479Pro) c.4580-4215A>C (n.4580-4215A>C) c.4163A>C (p.Gln1388Pro) c.3761-4215A>C (n.3761-4215A>C) c.3614A>C (p.Gln1205Pro) c.5528A>C (p.Gln1843Pro) c.5252A>C (p.Gln1751Pro) | |
9 | g.115046557G>A | CA374631051 | TNC | c.318-4216C>T c.3215-4216C>T (n.3215-4216C>T) c.3889C>T (p.Gln1297Ter) c.1921C>T (p.Gln641Ter) c.577C>T (p.Gln193Ter) c.3936C>T c.4978C>T (p.Gln1660Ter) c.4432C>T (p.Gln1478Ter) c.4307-4216C>T (n.4307-4216C>T) n.296C>T n.253-4216C>T n.40-4216C>T c.665C>T c.4705C>T (p.Gln1569Ter) c.4034-4216C>T (n.4034-4216C>T) c.3340C>T (p.Gln1114Ter) c.5254C>T (p.Gln1752Ter) c.3488-4216C>T (n.3488-4216C>T) c.4981C>T (p.Gln1661Ter) c.4435C>T (p.Gln1479Ter) c.4580-4216C>T (n.4580-4216C>T) c.4162C>T (p.Gln1388Ter) c.3761-4216C>T (n.3761-4216C>T) c.3613C>T (p.Gln1205Ter) c.5527C>T (p.Gln1843Ter) c.5251C>T (p.Gln1751Ter) | |
9 | g.115046557G>C | CA374631053 | TNC | c.318-4216C>G c.3215-4216C>G (n.3215-4216C>G) c.3889C>G (p.Gln1297Glu) c.1921C>G (p.Gln641Glu) c.577C>G (p.Gln193Glu) c.3936C>G c.4978C>G (p.Gln1660Glu) c.4432C>G (p.Gln1478Glu) c.4307-4216C>G (n.4307-4216C>G) n.296C>G n.253-4216C>G n.40-4216C>G c.665C>G c.4705C>G (p.Gln1569Glu) c.4034-4216C>G (n.4034-4216C>G) c.3340C>G (p.Gln1114Glu) c.5254C>G (p.Gln1752Glu) c.3488-4216C>G (n.3488-4216C>G) c.4981C>G (p.Gln1661Glu) c.4435C>G (p.Gln1479Glu) c.4580-4216C>G (n.4580-4216C>G) c.4162C>G (p.Gln1388Glu) c.3761-4216C>G (n.3761-4216C>G) c.3613C>G (p.Gln1205Glu) c.5527C>G (p.Gln1843Glu) c.5251C>G (p.Gln1751Glu) | |
9 | g.115046557G>T | CA374631054 | TNC | c.318-4216C>A c.3215-4216C>A (n.3215-4216C>A) c.3889C>A (p.Gln1297Lys) c.1921C>A (p.Gln641Lys) c.577C>A (p.Gln193Lys) c.3936C>A c.4978C>A (p.Gln1660Lys) c.4432C>A (p.Gln1478Lys) c.4307-4216C>A (n.4307-4216C>A) n.296C>A n.253-4216C>A n.40-4216C>A c.665C>A c.4705C>A (p.Gln1569Lys) c.4034-4216C>A (n.4034-4216C>A) c.3340C>A (p.Gln1114Lys) c.5254C>A (p.Gln1752Lys) c.3488-4216C>A (n.3488-4216C>A) c.4981C>A (p.Gln1661Lys) c.4435C>A (p.Gln1479Lys) c.4580-4216C>A (n.4580-4216C>A) c.4162C>A (p.Gln1388Lys) c.3761-4216C>A (n.3761-4216C>A) c.3613C>A (p.Gln1205Lys) c.5527C>A (p.Gln1843Lys) c.5251C>A (p.Gln1751Lys) | |
9 | g.115046558C>A | CA198692626 | TNC | c.318-4217G>T c.3215-4217G>T (n.3215-4217G>T) c.3888G>T (p.Lys1296Asn) c.1920G>T (p.Lys640Asn) c.576G>T (p.Lys192Asn) c.3935G>T c.4977G>T (p.Lys1659Asn) c.4431G>T (p.Lys1477Asn) c.4307-4217G>T (n.4307-4217G>T) n.295G>T n.253-4217G>T n.40-4217G>T c.664G>T c.4704G>T (p.Lys1568Asn) c.4034-4217G>T (n.4034-4217G>T) c.3339G>T (p.Lys1113Asn) c.5253G>T (p.Lys1751Asn) c.3488-4217G>T (n.3488-4217G>T) c.4980G>T (p.Lys1660Asn) c.4434G>T (p.Lys1478Asn) c.4580-4217G>T (n.4580-4217G>T) c.4161G>T (p.Lys1387Asn) c.3761-4217G>T (n.3761-4217G>T) c.3612G>T (p.Lys1204Asn) c.5526G>T (p.Lys1842Asn) c.5250G>T (p.Lys1750Asn) | dbSNP gnomAD v4 |
9 | g.115046558C= | CA1874118909 | TNC | c.318-4217G= c.3215-4217G= (n.3215-4217G=) c.3888G= (p.Lys1296=) c.1920G= (p.Lys640=) c.576G= (p.Lys192=) c.3935G= c.4977G= (p.Lys1659=) c.4431G= (p.Lys1477=) c.4307-4217G= (n.4307-4217G=) n.295G= n.253-4217G= n.40-4217G= c.664G= c.4704G= (p.Lys1568=) c.4034-4217G= (n.4034-4217G=) c.3339G= (p.Lys1113=) c.5253G= (p.Lys1751=) c.3488-4217G= (n.3488-4217G=) c.4980G= (p.Lys1660=) c.4434G= (p.Lys1478=) c.4580-4217G= (n.4580-4217G=) c.4161G= (p.Lys1387=) c.3761-4217G= (n.3761-4217G=) c.3612G= (p.Lys1204=) c.5526G= (p.Lys1842=) c.5250G= (p.Lys1750=) | |
9 | g.115046558C>G | CA374631057 | TNC | c.318-4217G>C c.3215-4217G>C (n.3215-4217G>C) c.3888G>C (p.Lys1296Asn) c.1920G>C (p.Lys640Asn) c.576G>C (p.Lys192Asn) c.3935G>C c.4977G>C (p.Lys1659Asn) c.4431G>C (p.Lys1477Asn) c.4307-4217G>C (n.4307-4217G>C) n.295G>C n.253-4217G>C n.40-4217G>C c.664G>C c.4704G>C (p.Lys1568Asn) c.4034-4217G>C (n.4034-4217G>C) c.3339G>C (p.Lys1113Asn) c.5253G>C (p.Lys1751Asn) c.3488-4217G>C (n.3488-4217G>C) c.4980G>C (p.Lys1660Asn) c.4434G>C (p.Lys1478Asn) c.4580-4217G>C (n.4580-4217G>C) c.4161G>C (p.Lys1387Asn) c.3761-4217G>C (n.3761-4217G>C) c.3612G>C (p.Lys1204Asn) c.5526G>C (p.Lys1842Asn) c.5250G>C (p.Lys1750Asn) | |
9 | g.115046558C>T | CA466912480 | TNC | c.318-4217G>A c.3215-4217G>A (n.3215-4217G>A) c.3888G>A (p.Lys1296=) c.1920G>A (p.Lys640=) c.576G>A (p.Lys192=) c.3935G>A c.4977G>A (p.Lys1659=) c.4431G>A (p.Lys1477=) c.4307-4217G>A (n.4307-4217G>A) n.295G>A n.253-4217G>A n.40-4217G>A c.664G>A c.4704G>A (p.Lys1568=) c.4034-4217G>A (n.4034-4217G>A) c.3339G>A (p.Lys1113=) c.5253G>A (p.Lys1751=) c.3488-4217G>A (n.3488-4217G>A) c.4980G>A (p.Lys1660=) c.4434G>A (p.Lys1478=) c.4580-4217G>A (n.4580-4217G>A) c.4161G>A (p.Lys1387=) c.3761-4217G>A (n.3761-4217G>A) c.3612G>A (p.Lys1204=) c.5526G>A (p.Lys1842=) c.5250G>A (p.Lys1750=) | gnomAD v4 |
9 | g.115046559T>A | CA374631060 | TNC | c.318-4218A>T c.3215-4218A>T (n.3215-4218A>T) c.3887A>T (p.Lys1296Met) c.1919A>T (p.Lys640Met) c.575A>T (p.Lys192Met) c.3934A>T c.4976A>T (p.Lys1659Met) c.4430A>T (p.Lys1477Met) c.4307-4218A>T (n.4307-4218A>T) n.294A>T n.253-4218A>T n.40-4218A>T c.663A>T c.4703A>T (p.Lys1568Met) c.4034-4218A>T (n.4034-4218A>T) c.3338A>T (p.Lys1113Met) c.5252A>T (p.Lys1751Met) c.3488-4218A>T (n.3488-4218A>T) c.4979A>T (p.Lys1660Met) c.4433A>T (p.Lys1478Met) c.4580-4218A>T (n.4580-4218A>T) c.4160A>T (p.Lys1387Met) c.3761-4218A>T (n.3761-4218A>T) c.3611A>T (p.Lys1204Met) c.5525A>T (p.Lys1842Met) c.5249A>T (p.Lys1750Met) | |
9 | g.115046559T>C | CA374631062 | TNC | c.318-4218A>G c.3215-4218A>G (n.3215-4218A>G) c.3887A>G (p.Lys1296Arg) c.1919A>G (p.Lys640Arg) c.575A>G (p.Lys192Arg) c.3934A>G c.4976A>G (p.Lys1659Arg) c.4430A>G (p.Lys1477Arg) c.4307-4218A>G (n.4307-4218A>G) n.294A>G n.253-4218A>G n.40-4218A>G c.663A>G c.4703A>G (p.Lys1568Arg) c.4034-4218A>G (n.4034-4218A>G) c.3338A>G (p.Lys1113Arg) c.5252A>G (p.Lys1751Arg) c.3488-4218A>G (n.3488-4218A>G) c.4979A>G (p.Lys1660Arg) c.4433A>G (p.Lys1478Arg) c.4580-4218A>G (n.4580-4218A>G) c.4160A>G (p.Lys1387Arg) c.3761-4218A>G (n.3761-4218A>G) c.3611A>G (p.Lys1204Arg) c.5525A>G (p.Lys1842Arg) c.5249A>G (p.Lys1750Arg) | |
9 | g.115046559T>G | CA374631058 | TNC | c.318-4218A>C c.3215-4218A>C (n.3215-4218A>C) c.3887A>C (p.Lys1296Thr) c.1919A>C (p.Lys640Thr) c.575A>C (p.Lys192Thr) c.3934A>C c.4976A>C (p.Lys1659Thr) c.4430A>C (p.Lys1477Thr) c.4307-4218A>C (n.4307-4218A>C) n.294A>C n.253-4218A>C n.40-4218A>C c.663A>C c.4703A>C (p.Lys1568Thr) c.4034-4218A>C (n.4034-4218A>C) c.3338A>C (p.Lys1113Thr) c.5252A>C (p.Lys1751Thr) c.3488-4218A>C (n.3488-4218A>C) c.4979A>C (p.Lys1660Thr) c.4433A>C (p.Lys1478Thr) c.4580-4218A>C (n.4580-4218A>C) c.4160A>C (p.Lys1387Thr) c.3761-4218A>C (n.3761-4218A>C) c.3611A>C (p.Lys1204Thr) c.5525A>C (p.Lys1842Thr) c.5249A>C (p.Lys1750Thr) | |
9 | g.115046560T>A | CA374631064 | TNC | c.318-4219A>T c.3215-4219A>T (n.3215-4219A>T) c.3886A>T (p.Lys1296Ter) c.1918A>T (p.Lys640Ter) c.574A>T (p.Lys192Ter) c.3933A>T c.4975A>T (p.Lys1659Ter) c.4429A>T (p.Lys1477Ter) c.4307-4219A>T (n.4307-4219A>T) n.293A>T n.253-4219A>T n.40-4219A>T c.662A>T c.4702A>T (p.Lys1568Ter) c.4034-4219A>T (n.4034-4219A>T) c.3337A>T (p.Lys1113Ter) c.5251A>T (p.Lys1751Ter) c.3488-4219A>T (n.3488-4219A>T) c.4978A>T (p.Lys1660Ter) c.4432A>T (p.Lys1478Ter) c.4580-4219A>T (n.4580-4219A>T) c.4159A>T (p.Lys1387Ter) c.3761-4219A>T (n.3761-4219A>T) c.3610A>T (p.Lys1204Ter) c.5524A>T (p.Lys1842Ter) c.5248A>T (p.Lys1750Ter) | |
9 | g.115046560T>C | CA374631065 | TNC | c.318-4219A>G c.3215-4219A>G (n.3215-4219A>G) c.3886A>G (p.Lys1296Glu) c.1918A>G (p.Lys640Glu) c.574A>G (p.Lys192Glu) c.3933A>G c.4975A>G (p.Lys1659Glu) c.4429A>G (p.Lys1477Glu) c.4307-4219A>G (n.4307-4219A>G) n.293A>G n.253-4219A>G n.40-4219A>G c.662A>G c.4702A>G (p.Lys1568Glu) c.4034-4219A>G (n.4034-4219A>G) c.3337A>G (p.Lys1113Glu) c.5251A>G (p.Lys1751Glu) c.3488-4219A>G (n.3488-4219A>G) c.4978A>G (p.Lys1660Glu) c.4432A>G (p.Lys1478Glu) c.4580-4219A>G (n.4580-4219A>G) c.4159A>G (p.Lys1387Glu) c.3761-4219A>G (n.3761-4219A>G) c.3610A>G (p.Lys1204Glu) c.5524A>G (p.Lys1842Glu) c.5248A>G (p.Lys1750Glu) | |
9 | g.115046560T>G | CA374631067 | TNC | c.318-4219A>C c.3215-4219A>C (n.3215-4219A>C) c.3886A>C (p.Lys1296Gln) c.1918A>C (p.Lys640Gln) c.574A>C (p.Lys192Gln) c.3933A>C c.4975A>C (p.Lys1659Gln) c.4429A>C (p.Lys1477Gln) c.4307-4219A>C (n.4307-4219A>C) n.293A>C n.253-4219A>C n.40-4219A>C c.662A>C c.4702A>C (p.Lys1568Gln) c.4034-4219A>C (n.4034-4219A>C) c.3337A>C (p.Lys1113Gln) c.5251A>C (p.Lys1751Gln) c.3488-4219A>C (n.3488-4219A>C) c.4978A>C (p.Lys1660Gln) c.4432A>C (p.Lys1478Gln) c.4580-4219A>C (n.4580-4219A>C) c.4159A>C (p.Lys1387Gln) c.3761-4219A>C (n.3761-4219A>C) c.3610A>C (p.Lys1204Gln) c.5524A>C (p.Lys1842Gln) c.5248A>C (p.Lys1750Gln) | |
9 | g.115046561T>A | CA374631069 | TNC | c.318-4220A>T c.3215-4220A>T (n.3215-4220A>T) c.3885A>T (p.Lys1295Asn) c.1917A>T (p.Lys639Asn) c.573A>T (p.Lys191Asn) c.3932A>T c.4974A>T (p.Lys1658Asn) c.4428A>T (p.Lys1476Asn) c.4307-4220A>T (n.4307-4220A>T) n.292A>T n.253-4220A>T n.40-4220A>T c.661A>T c.4701A>T (p.Lys1567Asn) c.4034-4220A>T (n.4034-4220A>T) c.3336A>T (p.Lys1112Asn) c.5250A>T (p.Lys1750Asn) c.3488-4220A>T (n.3488-4220A>T) c.4977A>T (p.Lys1659Asn) c.4431A>T (p.Lys1477Asn) c.4580-4220A>T (n.4580-4220A>T) c.4158A>T (p.Lys1386Asn) c.3761-4220A>T (n.3761-4220A>T) c.3609A>T (p.Lys1203Asn) c.5523A>T (p.Lys1841Asn) c.5247A>T (p.Lys1749Asn) | |
9 | g.115046561T>C | CA466912481 | TNC | c.318-4220A>G c.3215-4220A>G (n.3215-4220A>G) c.3885A>G (p.Lys1295=) c.1917A>G (p.Lys639=) c.573A>G (p.Lys191=) c.3932A>G c.4974A>G (p.Lys1658=) c.4428A>G (p.Lys1476=) c.4307-4220A>G (n.4307-4220A>G) n.292A>G n.253-4220A>G n.40-4220A>G c.661A>G c.4701A>G (p.Lys1567=) c.4034-4220A>G (n.4034-4220A>G) c.3336A>G (p.Lys1112=) c.5250A>G (p.Lys1750=) c.3488-4220A>G (n.3488-4220A>G) c.4977A>G (p.Lys1659=) c.4431A>G (p.Lys1477=) c.4580-4220A>G (n.4580-4220A>G) c.4158A>G (p.Lys1386=) c.3761-4220A>G (n.3761-4220A>G) c.3609A>G (p.Lys1203=) c.5523A>G (p.Lys1841=) c.5247A>G (p.Lys1749=) | |
9 | g.115046561T>G | CA374631071 | TNC | c.318-4220A>C c.3215-4220A>C (n.3215-4220A>C) c.3885A>C (p.Lys1295Asn) c.1917A>C (p.Lys639Asn) c.573A>C (p.Lys191Asn) c.3932A>C c.4974A>C (p.Lys1658Asn) c.4428A>C (p.Lys1476Asn) c.4307-4220A>C (n.4307-4220A>C) n.292A>C n.253-4220A>C n.40-4220A>C c.661A>C c.4701A>C (p.Lys1567Asn) c.4034-4220A>C (n.4034-4220A>C) c.3336A>C (p.Lys1112Asn) c.5250A>C (p.Lys1750Asn) c.3488-4220A>C (n.3488-4220A>C) c.4977A>C (p.Lys1659Asn) c.4431A>C (p.Lys1477Asn) c.4580-4220A>C (n.4580-4220A>C) c.4158A>C (p.Lys1386Asn) c.3761-4220A>C (n.3761-4220A>C) c.3609A>C (p.Lys1203Asn) c.5523A>C (p.Lys1841Asn) c.5247A>C (p.Lys1749Asn) | |
9 | g.115046562T>A | CA374631072 | TNC | c.318-4221A>T c.3215-4221A>T (n.3215-4221A>T) c.3884A>T (p.Lys1295Ile) c.1916A>T (p.Lys639Ile) c.572A>T (p.Lys191Ile) c.3931A>T c.4973A>T (p.Lys1658Ile) c.4427A>T (p.Lys1476Ile) c.4307-4221A>T (n.4307-4221A>T) n.291A>T n.253-4221A>T n.40-4221A>T c.660A>T c.4700A>T (p.Lys1567Ile) c.4034-4221A>T (n.4034-4221A>T) c.3335A>T (p.Lys1112Ile) c.5249A>T (p.Lys1750Ile) c.3488-4221A>T (n.3488-4221A>T) c.4976A>T (p.Lys1659Ile) c.4430A>T (p.Lys1477Ile) c.4580-4221A>T (n.4580-4221A>T) c.4157A>T (p.Lys1386Ile) c.3761-4221A>T (n.3761-4221A>T) c.3608A>T (p.Lys1203Ile) c.5522A>T (p.Lys1841Ile) c.5246A>T (p.Lys1749Ile) | |
9 | g.115046562T>C | CA374631074 | TNC | c.318-4221A>G c.3215-4221A>G (n.3215-4221A>G) c.3884A>G (p.Lys1295Arg) c.1916A>G (p.Lys639Arg) c.572A>G (p.Lys191Arg) c.3931A>G c.4973A>G (p.Lys1658Arg) c.4427A>G (p.Lys1476Arg) c.4307-4221A>G (n.4307-4221A>G) n.291A>G n.253-4221A>G n.40-4221A>G c.660A>G c.4700A>G (p.Lys1567Arg) c.4034-4221A>G (n.4034-4221A>G) c.3335A>G (p.Lys1112Arg) c.5249A>G (p.Lys1750Arg) c.3488-4221A>G (n.3488-4221A>G) c.4976A>G (p.Lys1659Arg) c.4430A>G (p.Lys1477Arg) c.4580-4221A>G (n.4580-4221A>G) c.4157A>G (p.Lys1386Arg) c.3761-4221A>G (n.3761-4221A>G) c.3608A>G (p.Lys1203Arg) c.5522A>G (p.Lys1841Arg) c.5246A>G (p.Lys1749Arg) | |
9 | g.115046562T>G | CA374631076 | TNC | c.318-4221A>C c.3215-4221A>C (n.3215-4221A>C) c.3884A>C (p.Lys1295Thr) c.1916A>C (p.Lys639Thr) c.572A>C (p.Lys191Thr) c.3931A>C c.4973A>C (p.Lys1658Thr) c.4427A>C (p.Lys1476Thr) c.4307-4221A>C (n.4307-4221A>C) n.291A>C n.253-4221A>C n.40-4221A>C c.660A>C c.4700A>C (p.Lys1567Thr) c.4034-4221A>C (n.4034-4221A>C) c.3335A>C (p.Lys1112Thr) c.5249A>C (p.Lys1750Thr) c.3488-4221A>C (n.3488-4221A>C) c.4976A>C (p.Lys1659Thr) c.4430A>C (p.Lys1477Thr) c.4580-4221A>C (n.4580-4221A>C) c.4157A>C (p.Lys1386Thr) c.3761-4221A>C (n.3761-4221A>C) c.3608A>C (p.Lys1203Thr) c.5522A>C (p.Lys1841Thr) c.5246A>C (p.Lys1749Thr) | |
9 | g.115046563T>A | CA374631078 | TNC | c.318-4222A>T c.3215-4222A>T (n.3215-4222A>T) c.3883A>T (p.Lys1295Ter) c.1915A>T (p.Lys639Ter) c.571A>T (p.Lys191Ter) c.3930A>T c.4972A>T (p.Lys1658Ter) c.4426A>T (p.Lys1476Ter) c.4307-4222A>T (n.4307-4222A>T) n.290A>T n.253-4222A>T n.40-4222A>T c.659A>T c.4699A>T (p.Lys1567Ter) c.4034-4222A>T (n.4034-4222A>T) c.3334A>T (p.Lys1112Ter) c.5248A>T (p.Lys1750Ter) c.3488-4222A>T (n.3488-4222A>T) c.4975A>T (p.Lys1659Ter) c.4429A>T (p.Lys1477Ter) c.4580-4222A>T (n.4580-4222A>T) c.4156A>T (p.Lys1386Ter) c.3761-4222A>T (n.3761-4222A>T) c.3607A>T (p.Lys1203Ter) c.5521A>T (p.Lys1841Ter) c.5245A>T (p.Lys1749Ter) | |
9 | g.115046563T>C | CA374631079 | TNC | c.318-4222A>G c.3215-4222A>G (n.3215-4222A>G) c.3883A>G (p.Lys1295Glu) c.1915A>G (p.Lys639Glu) c.571A>G (p.Lys191Glu) c.3930A>G c.4972A>G (p.Lys1658Glu) c.4426A>G (p.Lys1476Glu) c.4307-4222A>G (n.4307-4222A>G) n.290A>G n.253-4222A>G n.40-4222A>G c.659A>G c.4699A>G (p.Lys1567Glu) c.4034-4222A>G (n.4034-4222A>G) c.3334A>G (p.Lys1112Glu) c.5248A>G (p.Lys1750Glu) c.3488-4222A>G (n.3488-4222A>G) c.4975A>G (p.Lys1659Glu) c.4429A>G (p.Lys1477Glu) c.4580-4222A>G (n.4580-4222A>G) c.4156A>G (p.Lys1386Glu) c.3761-4222A>G (n.3761-4222A>G) c.3607A>G (p.Lys1203Glu) c.5521A>G (p.Lys1841Glu) c.5245A>G (p.Lys1749Glu) | |
9 | g.115046563T>G | CA374631081 | TNC | c.318-4222A>C c.3215-4222A>C (n.3215-4222A>C) c.3883A>C (p.Lys1295Gln) c.1915A>C (p.Lys639Gln) c.571A>C (p.Lys191Gln) c.3930A>C c.4972A>C (p.Lys1658Gln) c.4426A>C (p.Lys1476Gln) c.4307-4222A>C (n.4307-4222A>C) n.290A>C n.253-4222A>C n.40-4222A>C c.659A>C c.4699A>C (p.Lys1567Gln) c.4034-4222A>C (n.4034-4222A>C) c.3334A>C (p.Lys1112Gln) c.5248A>C (p.Lys1750Gln) c.3488-4222A>C (n.3488-4222A>C) c.4975A>C (p.Lys1659Gln) c.4429A>C (p.Lys1477Gln) c.4580-4222A>C (n.4580-4222A>C) c.4156A>C (p.Lys1386Gln) c.3761-4222A>C (n.3761-4222A>C) c.3607A>C (p.Lys1203Gln) c.5521A>C (p.Lys1841Gln) c.5245A>C (p.Lys1749Gln) | |
9 | g.115046564G>A | CA466912482 | TNC | c.318-4223C>T c.3215-4223C>T (n.3215-4223C>T) c.3882C>T (p.Thr1294=) c.1914C>T (p.Thr638=) c.570C>T (p.Thr190=) c.3929C>T c.4971C>T (p.Thr1657=) c.4425C>T (p.Thr1475=) c.4307-4223C>T (n.4307-4223C>T) n.289C>T n.253-4223C>T n.40-4223C>T c.658C>T c.4698C>T (p.Thr1566=) c.4034-4223C>T (n.4034-4223C>T) c.3333C>T (p.Thr1111=) c.5247C>T (p.Thr1749=) c.3488-4223C>T (n.3488-4223C>T) c.4974C>T (p.Thr1658=) c.4428C>T (p.Thr1476=) c.4580-4223C>T (n.4580-4223C>T) c.4155C>T (p.Thr1385=) c.3761-4223C>T (n.3761-4223C>T) c.3606C>T (p.Thr1202=) c.5520C>T (p.Thr1840=) c.5244C>T (p.Thr1748=) | gnomAD v3 gnomAD v4 |
9 | g.115046564G>C | CA198692634 | TNC | c.318-4223C>G c.3215-4223C>G (n.3215-4223C>G) c.3882C>G (p.Thr1294=) c.1914C>G (p.Thr638=) c.570C>G (p.Thr190=) c.3929C>G c.4971C>G (p.Thr1657=) c.4425C>G (p.Thr1475=) c.4307-4223C>G (n.4307-4223C>G) n.289C>G n.253-4223C>G n.40-4223C>G c.658C>G c.4698C>G (p.Thr1566=) c.4034-4223C>G (n.4034-4223C>G) c.3333C>G (p.Thr1111=) c.5247C>G (p.Thr1749=) c.3488-4223C>G (n.3488-4223C>G) c.4974C>G (p.Thr1658=) c.4428C>G (p.Thr1476=) c.4580-4223C>G (n.4580-4223C>G) c.4155C>G (p.Thr1385=) c.3761-4223C>G (n.3761-4223C>G) c.3606C>G (p.Thr1202=) c.5520C>G (p.Thr1840=) c.5244C>G (p.Thr1748=) | dbSNP |
9 | g.115046564G= | CA1874118910 | TNC | c.318-4223C= c.3215-4223C= (n.3215-4223C=) c.3882C= (p.Thr1294=) c.1914C= (p.Thr638=) c.570C= (p.Thr190=) c.3929C= c.4971C= (p.Thr1657=) c.4425C= (p.Thr1475=) c.4307-4223C= (n.4307-4223C=) n.289C= n.253-4223C= n.40-4223C= c.658C= c.4698C= (p.Thr1566=) c.4034-4223C= (n.4034-4223C=) c.3333C= (p.Thr1111=) c.5247C= (p.Thr1749=) c.3488-4223C= (n.3488-4223C=) c.4974C= (p.Thr1658=) c.4428C= (p.Thr1476=) c.4580-4223C= (n.4580-4223C=) c.4155C= (p.Thr1385=) c.3761-4223C= (n.3761-4223C=) c.3606C= (p.Thr1202=) c.5520C= (p.Thr1840=) c.5244C= (p.Thr1748=) | |
9 | g.115046564G>T | CA5207776 | TNC | c.318-4223C>A c.3215-4223C>A (n.3215-4223C>A) c.3882C>A (p.Thr1294=) c.1914C>A (p.Thr638=) c.570C>A (p.Thr190=) c.3929C>A c.4971C>A (p.Thr1657=) c.4425C>A (p.Thr1475=) c.4307-4223C>A (n.4307-4223C>A) n.289C>A n.253-4223C>A n.40-4223C>A c.658C>A c.4698C>A (p.Thr1566=) c.4034-4223C>A (n.4034-4223C>A) c.3333C>A (p.Thr1111=) c.5247C>A (p.Thr1749=) c.3488-4223C>A (n.3488-4223C>A) c.4974C>A (p.Thr1658=) c.4428C>A (p.Thr1476=) c.4580-4223C>A (n.4580-4223C>A) c.4155C>A (p.Thr1385=) c.3761-4223C>A (n.3761-4223C>A) c.3606C>A (p.Thr1202=) c.5520C>A (p.Thr1840=) c.5244C>A (p.Thr1748=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.115046565G>A | CA5207777 | TNC | c.318-4224C>T c.3215-4224C>T (n.3215-4224C>T) c.3881C>T (p.Thr1294Ile) c.1913C>T (p.Thr638Ile) c.569C>T (p.Thr190Ile) c.3928C>T c.4970C>T (p.Thr1657Ile) c.4424C>T (p.Thr1475Ile) c.4307-4224C>T (n.4307-4224C>T) n.288C>T n.253-4224C>T n.40-4224C>T c.657C>T c.4697C>T (p.Thr1566Ile) c.4034-4224C>T (n.4034-4224C>T) c.3332C>T (p.Thr1111Ile) c.5246C>T (p.Thr1749Ile) c.3488-4224C>T (n.3488-4224C>T) c.4973C>T (p.Thr1658Ile) c.4427C>T (p.Thr1476Ile) c.4580-4224C>T (n.4580-4224C>T) c.4154C>T (p.Thr1385Ile) c.3761-4224C>T (n.3761-4224C>T) c.3605C>T (p.Thr1202Ile) c.5519C>T (p.Thr1840Ile) c.5243C>T (p.Thr1748Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.115046565G>C | CA374631084 | TNC | c.318-4224C>G c.3215-4224C>G (n.3215-4224C>G) c.3881C>G (p.Thr1294Ser) c.1913C>G (p.Thr638Ser) c.569C>G (p.Thr190Ser) c.3928C>G c.4970C>G (p.Thr1657Ser) c.4424C>G (p.Thr1475Ser) c.4307-4224C>G (n.4307-4224C>G) n.288C>G n.253-4224C>G n.40-4224C>G c.657C>G c.4697C>G (p.Thr1566Ser) c.4034-4224C>G (n.4034-4224C>G) c.3332C>G (p.Thr1111Ser) c.5246C>G (p.Thr1749Ser) c.3488-4224C>G (n.3488-4224C>G) c.4973C>G (p.Thr1658Ser) c.4427C>G (p.Thr1476Ser) c.4580-4224C>G (n.4580-4224C>G) c.4154C>G (p.Thr1385Ser) c.3761-4224C>G (n.3761-4224C>G) c.3605C>G (p.Thr1202Ser) c.5519C>G (p.Thr1840Ser) c.5243C>G (p.Thr1748Ser) | gnomAD v4 |
9 | g.115046565G= | CA1874118911 | TNC | c.318-4224C= c.3215-4224C= (n.3215-4224C=) c.3881C= (p.Thr1294=) c.1913C= (p.Thr638=) c.569C= (p.Thr190=) c.3928C= c.4970C= (p.Thr1657=) c.4424C= (p.Thr1475=) c.4307-4224C= (n.4307-4224C=) n.288C= n.253-4224C= n.40-4224C= c.657C= c.4697C= (p.Thr1566=) c.4034-4224C= (n.4034-4224C=) c.3332C= (p.Thr1111=) c.5246C= (p.Thr1749=) c.3488-4224C= (n.3488-4224C=) c.4973C= (p.Thr1658=) c.4427C= (p.Thr1476=) c.4580-4224C= (n.4580-4224C=) c.4154C= (p.Thr1385=) c.3761-4224C= (n.3761-4224C=) c.3605C= (p.Thr1202=) c.5519C= (p.Thr1840=) c.5243C= (p.Thr1748=) | |
9 | g.115046565G>T | CA198692666 | TNC | c.318-4224C>A c.3215-4224C>A (n.3215-4224C>A) c.3881C>A (p.Thr1294Asn) c.1913C>A (p.Thr638Asn) c.569C>A (p.Thr190Asn) c.3928C>A c.4970C>A (p.Thr1657Asn) c.4424C>A (p.Thr1475Asn) c.4307-4224C>A (n.4307-4224C>A) n.288C>A n.253-4224C>A n.40-4224C>A c.657C>A c.4697C>A (p.Thr1566Asn) c.4034-4224C>A (n.4034-4224C>A) c.3332C>A (p.Thr1111Asn) c.5246C>A (p.Thr1749Asn) c.3488-4224C>A (n.3488-4224C>A) c.4973C>A (p.Thr1658Asn) c.4427C>A (p.Thr1476Asn) c.4580-4224C>A (n.4580-4224C>A) c.4154C>A (p.Thr1385Asn) c.3761-4224C>A (n.3761-4224C>A) c.3605C>A (p.Thr1202Asn) c.5519C>A (p.Thr1840Asn) c.5243C>A (p.Thr1748Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.115046566T>A | CA374631085 | TNC | c.318-4225A>T c.3215-4225A>T (n.3215-4225A>T) c.3880A>T (p.Thr1294Ser) c.1912A>T (p.Thr638Ser) c.568A>T (p.Thr190Ser) c.3927A>T c.4969A>T (p.Thr1657Ser) c.4423A>T (p.Thr1475Ser) c.4307-4225A>T (n.4307-4225A>T) n.287A>T n.253-4225A>T n.40-4225A>T c.656A>T c.4696A>T (p.Thr1566Ser) c.4034-4225A>T (n.4034-4225A>T) c.3331A>T (p.Thr1111Ser) c.5245A>T (p.Thr1749Ser) c.3488-4225A>T (n.3488-4225A>T) c.4972A>T (p.Thr1658Ser) c.4426A>T (p.Thr1476Ser) c.4580-4225A>T (n.4580-4225A>T) c.4153A>T (p.Thr1385Ser) c.3761-4225A>T (n.3761-4225A>T) c.3604A>T (p.Thr1202Ser) c.5518A>T (p.Thr1840Ser) c.5242A>T (p.Thr1748Ser) | |
9 | g.115046566T>C | CA374631087 | TNC | c.318-4225A>G c.3215-4225A>G (n.3215-4225A>G) c.3880A>G (p.Thr1294Ala) c.1912A>G (p.Thr638Ala) c.568A>G (p.Thr190Ala) c.3927A>G c.4969A>G (p.Thr1657Ala) c.4423A>G (p.Thr1475Ala) c.4307-4225A>G (n.4307-4225A>G) n.287A>G n.253-4225A>G n.40-4225A>G c.656A>G c.4696A>G (p.Thr1566Ala) c.4034-4225A>G (n.4034-4225A>G) c.3331A>G (p.Thr1111Ala) c.5245A>G (p.Thr1749Ala) c.3488-4225A>G (n.3488-4225A>G) c.4972A>G (p.Thr1658Ala) c.4426A>G (p.Thr1476Ala) c.4580-4225A>G (n.4580-4225A>G) c.4153A>G (p.Thr1385Ala) c.3761-4225A>G (n.3761-4225A>G) c.3604A>G (p.Thr1202Ala) c.5518A>G (p.Thr1840Ala) c.5242A>G (p.Thr1748Ala) | |
9 | g.115046566T>G | CA374631089 | TNC | c.318-4225A>C c.3215-4225A>C (n.3215-4225A>C) c.3880A>C (p.Thr1294Pro) c.1912A>C (p.Thr638Pro) c.568A>C (p.Thr190Pro) c.3927A>C c.4969A>C (p.Thr1657Pro) c.4423A>C (p.Thr1475Pro) c.4307-4225A>C (n.4307-4225A>C) n.287A>C n.253-4225A>C n.40-4225A>C c.656A>C c.4696A>C (p.Thr1566Pro) c.4034-4225A>C (n.4034-4225A>C) c.3331A>C (p.Thr1111Pro) c.5245A>C (p.Thr1749Pro) c.3488-4225A>C (n.3488-4225A>C) c.4972A>C (p.Thr1658Pro) c.4426A>C (p.Thr1476Pro) c.4580-4225A>C (n.4580-4225A>C) c.4153A>C (p.Thr1385Pro) c.3761-4225A>C (n.3761-4225A>C) c.3604A>C (p.Thr1202Pro) c.5518A>C (p.Thr1840Pro) c.5242A>C (p.Thr1748Pro) | |
9 | g.115046571_115046572insAGGACACTTCTATCTC | CA2785673973 | TNC | c.318-4225_318-4224insGAAGTGTCCTGAGATA c.3215-4225_3215-4224insGAAGTGTCCTGAGATA (n.3215-4225_3215-4224insGAAGTGTCCTGAGATA) c.3880_3881insGAAGTGTCCTGAGATA (p.Thr1294ArgfsTer11) c.1912_1913insGAAGTGTCCTGAGATA (p.Thr638ArgfsTer11) c.568_569insGAAGTGTCCTGAGATA (p.Thr190ArgfsTer11) c.3927_3928insGAAGTGTCCTGAGATA c.4969_4970insGAAGTGTCCTGAGATA (p.Thr1657ArgfsTer11) c.4423_4424insGAAGTGTCCTGAGATA (p.Thr1475ArgfsTer11) c.4307-4225_4307-4224insGAAGTGTCCTGAGATA (n.4307-4225_4307-4224insGAAGTGTCCTGAGATA) n.287_288insGAAGTGTCCTGAGATA n.253-4225_253-4224insGAAGTGTCCTGAGATA n.40-4225_40-4224insGAAGTGTCCTGAGATA c.656_657insGAAGTGTCCTGAGATA c.4696_4697insGAAGTGTCCTGAGATA (p.Thr1566ArgfsTer11) c.4034-4225_4034-4224insGAAGTGTCCTGAGATA (n.4034-4225_4034-4224insGAAGTGTCCTGAGATA) c.3331_3332insGAAGTGTCCTGAGATA (p.Thr1111ArgfsTer11) c.5245_5246insGAAGTGTCCTGAGATA (p.Thr1749ArgfsTer11) c.3488-4225_3488-4224insGAAGTGTCCTGAGATA (n.3488-4225_3488-4224insGAAGTGTCCTGAGATA) c.4972_4973insGAAGTGTCCTGAGATA (p.Thr1658ArgfsTer11) c.4426_4427insGAAGTGTCCTGAGATA (p.Thr1476ArgfsTer11) c.4580-4225_4580-4224insGAAGTGTCCTGAGATA (n.4580-4225_4580-4224insGAAGTGTCCTGAGATA) c.4153_4154insGAAGTGTCCTGAGATA (p.Thr1385ArgfsTer11) c.3761-4225_3761-4224insGAAGTGTCCTGAGATA (n.3761-4225_3761-4224insGAAGTGTCCTGAGATA) c.3604_3605insGAAGTGTCCTGAGATA (p.Thr1202ArgfsTer11) c.5518_5519insGAAGTGTCCTGAGATA (p.Thr1840ArgfsTer11) c.5242_5243insGAAGTGTCCTGAGATA (p.Thr1748ArgfsTer11) | |
9 | g.115046567A= | CA1874118912 | TNC | c.318-4226T= c.3215-4226T= (n.3215-4226T=) c.3879T= (p.Asp1293=) c.1911T= (p.Asp637=) c.567T= (p.Asp189=) c.3926T= c.4968T= (p.Asp1656=) c.4422T= (p.Asp1474=) c.4307-4226T= (n.4307-4226T=) n.286T= n.253-4226T= n.40-4226T= c.655T= c.4695T= (p.Asp1565=) c.4034-4226T= (n.4034-4226T=) c.3330T= (p.Asp1110=) c.5244T= (p.Asp1748=) c.3488-4226T= (n.3488-4226T=) c.4971T= (p.Asp1657=) c.4425T= (p.Asp1475=) c.4580-4226T= (n.4580-4226T=) c.4152T= (p.Asp1384=) c.3761-4226T= (n.3761-4226T=) c.3603T= (p.Asp1201=) c.5517T= (p.Asp1839=) c.5241T= (p.Asp1747=) | |
9 | g.115046567A>C | CA374631091 | TNC | c.318-4226T>G c.3215-4226T>G (n.3215-4226T>G) c.3879T>G (p.Asp1293Glu) c.1911T>G (p.Asp637Glu) c.567T>G (p.Asp189Glu) c.3926T>G c.4968T>G (p.Asp1656Glu) c.4422T>G (p.Asp1474Glu) c.4307-4226T>G (n.4307-4226T>G) n.286T>G n.253-4226T>G n.40-4226T>G c.655T>G c.4695T>G (p.Asp1565Glu) c.4034-4226T>G (n.4034-4226T>G) c.3330T>G (p.Asp1110Glu) c.5244T>G (p.Asp1748Glu) c.3488-4226T>G (n.3488-4226T>G) c.4971T>G (p.Asp1657Glu) c.4425T>G (p.Asp1475Glu) c.4580-4226T>G (n.4580-4226T>G) c.4152T>G (p.Asp1384Glu) c.3761-4226T>G (n.3761-4226T>G) c.3603T>G (p.Asp1201Glu) c.5517T>G (p.Asp1839Glu) c.5241T>G (p.Asp1747Glu) | |
9 | g.115046567A>G | CA198692675 | TNC | c.318-4226T>C c.3215-4226T>C (n.3215-4226T>C) c.3879T>C (p.Asp1293=) c.1911T>C (p.Asp637=) c.567T>C (p.Asp189=) c.3926T>C c.4968T>C (p.Asp1656=) c.4422T>C (p.Asp1474=) c.4307-4226T>C (n.4307-4226T>C) n.286T>C n.253-4226T>C n.40-4226T>C c.655T>C c.4695T>C (p.Asp1565=) c.4034-4226T>C (n.4034-4226T>C) c.3330T>C (p.Asp1110=) c.5244T>C (p.Asp1748=) c.3488-4226T>C (n.3488-4226T>C) c.4971T>C (p.Asp1657=) c.4425T>C (p.Asp1475=) c.4580-4226T>C (n.4580-4226T>C) c.4152T>C (p.Asp1384=) c.3761-4226T>C (n.3761-4226T>C) c.3603T>C (p.Asp1201=) c.5517T>C (p.Asp1839=) c.5241T>C (p.Asp1747=) | dbSNP gnomAD v4 |
9 | g.115046567A>T | CA374631093 | TNC | c.318-4226T>A c.3215-4226T>A (n.3215-4226T>A) c.3879T>A (p.Asp1293Glu) c.1911T>A (p.Asp637Glu) c.567T>A (p.Asp189Glu) c.3926T>A c.4968T>A (p.Asp1656Glu) c.4422T>A (p.Asp1474Glu) c.4307-4226T>A (n.4307-4226T>A) n.286T>A n.253-4226T>A n.40-4226T>A c.655T>A c.4695T>A (p.Asp1565Glu) c.4034-4226T>A (n.4034-4226T>A) c.3330T>A (p.Asp1110Glu) c.5244T>A (p.Asp1748Glu) c.3488-4226T>A (n.3488-4226T>A) c.4971T>A (p.Asp1657Glu) c.4425T>A (p.Asp1475Glu) c.4580-4226T>A (n.4580-4226T>A) c.4152T>A (p.Asp1384Glu) c.3761-4226T>A (n.3761-4226T>A) c.3603T>A (p.Asp1201Glu) c.5517T>A (p.Asp1839Glu) c.5241T>A (p.Asp1747Glu) | |
9 | g.115046568T>A | CA374631098 | TNC | c.318-4227A>T c.3215-4227A>T (n.3215-4227A>T) c.3878A>T (p.Asp1293Val) c.1910A>T (p.Asp637Val) c.566A>T (p.Asp189Val) c.3925A>T c.4967A>T (p.Asp1656Val) c.4421A>T (p.Asp1474Val) c.4307-4227A>T (n.4307-4227A>T) n.285A>T n.253-4227A>T n.40-4227A>T c.654A>T c.4694A>T (p.Asp1565Val) c.4034-4227A>T (n.4034-4227A>T) c.3329A>T (p.Asp1110Val) c.5243A>T (p.Asp1748Val) c.3488-4227A>T (n.3488-4227A>T) c.4970A>T (p.Asp1657Val) c.4424A>T (p.Asp1475Val) c.4580-4227A>T (n.4580-4227A>T) c.4151A>T (p.Asp1384Val) c.3761-4227A>T (n.3761-4227A>T) c.3602A>T (p.Asp1201Val) c.5516A>T (p.Asp1839Val) c.5240A>T (p.Asp1747Val) | |
9 | g.115046568T>C | CA374631095 | TNC | c.318-4227A>G c.3215-4227A>G (n.3215-4227A>G) c.3878A>G (p.Asp1293Gly) c.1910A>G (p.Asp637Gly) c.566A>G (p.Asp189Gly) c.3925A>G c.4967A>G (p.Asp1656Gly) c.4421A>G (p.Asp1474Gly) c.4307-4227A>G (n.4307-4227A>G) n.285A>G n.253-4227A>G n.40-4227A>G c.654A>G c.4694A>G (p.Asp1565Gly) c.4034-4227A>G (n.4034-4227A>G) c.3329A>G (p.Asp1110Gly) c.5243A>G (p.Asp1748Gly) c.3488-4227A>G (n.3488-4227A>G) c.4970A>G (p.Asp1657Gly) c.4424A>G (p.Asp1475Gly) c.4580-4227A>G (n.4580-4227A>G) c.4151A>G (p.Asp1384Gly) c.3761-4227A>G (n.3761-4227A>G) c.3602A>G (p.Asp1201Gly) c.5516A>G (p.Asp1839Gly) c.5240A>G (p.Asp1747Gly) | |
9 | g.115046568T>G | CA374631096 | TNC | c.318-4227A>C c.3215-4227A>C (n.3215-4227A>C) c.3878A>C (p.Asp1293Ala) c.1910A>C (p.Asp637Ala) c.566A>C (p.Asp189Ala) c.3925A>C c.4967A>C (p.Asp1656Ala) c.4421A>C (p.Asp1474Ala) c.4307-4227A>C (n.4307-4227A>C) n.285A>C n.253-4227A>C n.40-4227A>C c.654A>C c.4694A>C (p.Asp1565Ala) c.4034-4227A>C (n.4034-4227A>C) c.3329A>C (p.Asp1110Ala) c.5243A>C (p.Asp1748Ala) c.3488-4227A>C (n.3488-4227A>C) c.4970A>C (p.Asp1657Ala) c.4424A>C (p.Asp1475Ala) c.4580-4227A>C (n.4580-4227A>C) c.4151A>C (p.Asp1384Ala) c.3761-4227A>C (n.3761-4227A>C) c.3602A>C (p.Asp1201Ala) c.5516A>C (p.Asp1839Ala) c.5240A>C (p.Asp1747Ala) | |
9 | g.115046569C>A | CA374631099 | TNC | c.318-4228G>T c.3215-4228G>T (n.3215-4228G>T) c.3877G>T (p.Asp1293Tyr) c.1909G>T (p.Asp637Tyr) c.565G>T (p.Asp189Tyr) c.3924G>T c.4966G>T (p.Asp1656Tyr) c.4420G>T (p.Asp1474Tyr) c.4307-4228G>T (n.4307-4228G>T) n.284G>T n.253-4228G>T n.40-4228G>T c.653G>T c.4693G>T (p.Asp1565Tyr) c.4034-4228G>T (n.4034-4228G>T) c.3328G>T (p.Asp1110Tyr) c.5242G>T (p.Asp1748Tyr) c.3488-4228G>T (n.3488-4228G>T) c.4969G>T (p.Asp1657Tyr) c.4423G>T (p.Asp1475Tyr) c.4580-4228G>T (n.4580-4228G>T) c.4150G>T (p.Asp1384Tyr) c.3761-4228G>T (n.3761-4228G>T) c.3601G>T (p.Asp1201Tyr) c.5515G>T (p.Asp1839Tyr) c.5239G>T (p.Asp1747Tyr) | gnomAD v4 |
9 | g.115046569C= | CA1874118913 | TNC | c.318-4228G= c.3215-4228G= (n.3215-4228G=) c.3877G= (p.Asp1293=) c.1909G= (p.Asp637=) c.565G= (p.Asp189=) c.3924G= c.4966G= (p.Asp1656=) c.4420G= (p.Asp1474=) c.4307-4228G= (n.4307-4228G=) n.284G= n.253-4228G= n.40-4228G= c.653G= c.4693G= (p.Asp1565=) c.4034-4228G= (n.4034-4228G=) c.3328G= (p.Asp1110=) c.5242G= (p.Asp1748=) c.3488-4228G= (n.3488-4228G=) c.4969G= (p.Asp1657=) c.4423G= (p.Asp1475=) c.4580-4228G= (n.4580-4228G=) c.4150G= (p.Asp1384=) c.3761-4228G= (n.3761-4228G=) c.3601G= (p.Asp1201=) c.5515G= (p.Asp1839=) c.5239G= (p.Asp1747=) | |
9 | g.115046569C>G | CA374631100 | TNC | c.318-4228G>C c.3215-4228G>C (n.3215-4228G>C) c.3877G>C (p.Asp1293His) c.1909G>C (p.Asp637His) c.565G>C (p.Asp189His) c.3924G>C c.4966G>C (p.Asp1656His) c.4420G>C (p.Asp1474His) c.4307-4228G>C (n.4307-4228G>C) n.284G>C n.253-4228G>C n.40-4228G>C c.653G>C c.4693G>C (p.Asp1565His) c.4034-4228G>C (n.4034-4228G>C) c.3328G>C (p.Asp1110His) c.5242G>C (p.Asp1748His) c.3488-4228G>C (n.3488-4228G>C) c.4969G>C (p.Asp1657His) c.4423G>C (p.Asp1475His) c.4580-4228G>C (n.4580-4228G>C) c.4150G>C (p.Asp1384His) c.3761-4228G>C (n.3761-4228G>C) c.3601G>C (p.Asp1201His) c.5515G>C (p.Asp1839His) c.5239G>C (p.Asp1747His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.115046569C>T | CA5207778 | TNC | c.318-4228G>A c.3215-4228G>A (n.3215-4228G>A) c.3877G>A (p.Asp1293Asn) c.1909G>A (p.Asp637Asn) c.565G>A (p.Asp189Asn) c.3924G>A c.4966G>A (p.Asp1656Asn) c.4420G>A (p.Asp1474Asn) c.4307-4228G>A (n.4307-4228G>A) n.284G>A n.253-4228G>A n.40-4228G>A c.653G>A c.4693G>A (p.Asp1565Asn) c.4034-4228G>A (n.4034-4228G>A) c.3328G>A (p.Asp1110Asn) c.5242G>A (p.Asp1748Asn) c.3488-4228G>A (n.3488-4228G>A) c.4969G>A (p.Asp1657Asn) c.4423G>A (p.Asp1475Asn) c.4580-4228G>A (n.4580-4228G>A) c.4150G>A (p.Asp1384Asn) c.3761-4228G>A (n.3761-4228G>A) c.3601G>A (p.Asp1201Asn) c.5515G>A (p.Asp1839Asn) c.5239G>A (p.Asp1747Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
9 | g.115046570T>A | CA374631103 | TNC | c.318-4229A>T c.3215-4229A>T (n.3215-4229A>T) c.3876A>T (p.Arg1292Ser) c.1908A>T (p.Arg636Ser) c.564A>T (p.Arg188Ser) c.3923A>T c.4965A>T (p.Arg1655Ser) c.4419A>T (p.Arg1473Ser) c.4307-4229A>T (n.4307-4229A>T) n.283A>T n.253-4229A>T n.40-4229A>T c.652A>T c.4692A>T (p.Arg1564Ser) c.4034-4229A>T (n.4034-4229A>T) c.3327A>T (p.Arg1109Ser) c.5241A>T (p.Arg1747Ser) c.3488-4229A>T (n.3488-4229A>T) c.4968A>T (p.Arg1656Ser) c.4422A>T (p.Arg1474Ser) c.4580-4229A>T (n.4580-4229A>T) c.4149A>T (p.Arg1383Ser) c.3761-4229A>T (n.3761-4229A>T) c.3600A>T (p.Arg1200Ser) c.5514A>T (p.Arg1838Ser) c.5238A>T (p.Arg1746Ser) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.115046570T>C | CA466912486 | TNC | c.318-4229A>G c.3215-4229A>G (n.3215-4229A>G) c.3876A>G (p.Arg1292=) c.1908A>G (p.Arg636=) c.564A>G (p.Arg188=) c.3923A>G c.4965A>G (p.Arg1655=) c.4419A>G (p.Arg1473=) c.4307-4229A>G (n.4307-4229A>G) n.283A>G n.253-4229A>G n.40-4229A>G c.652A>G c.4692A>G (p.Arg1564=) c.4034-4229A>G (n.4034-4229A>G) c.3327A>G (p.Arg1109=) c.5241A>G (p.Arg1747=) c.3488-4229A>G (n.3488-4229A>G) c.4968A>G (p.Arg1656=) c.4422A>G (p.Arg1474=) c.4580-4229A>G (n.4580-4229A>G) c.4149A>G (p.Arg1383=) c.3761-4229A>G (n.3761-4229A>G) c.3600A>G (p.Arg1200=) c.5514A>G (p.Arg1838=) c.5238A>G (p.Arg1746=) | |
9 | g.115046570T>G | CA374631105 | TNC | c.318-4229A>C c.3215-4229A>C (n.3215-4229A>C) c.3876A>C (p.Arg1292Ser) c.1908A>C (p.Arg636Ser) c.564A>C (p.Arg188Ser) c.3923A>C c.4965A>C (p.Arg1655Ser) c.4419A>C (p.Arg1473Ser) c.4307-4229A>C (n.4307-4229A>C) n.283A>C n.253-4229A>C n.40-4229A>C c.652A>C c.4692A>C (p.Arg1564Ser) c.4034-4229A>C (n.4034-4229A>C) c.3327A>C (p.Arg1109Ser) c.5241A>C (p.Arg1747Ser) c.3488-4229A>C (n.3488-4229A>C) c.4968A>C (p.Arg1656Ser) c.4422A>C (p.Arg1474Ser) c.4580-4229A>C (n.4580-4229A>C) c.4149A>C (p.Arg1383Ser) c.3761-4229A>C (n.3761-4229A>C) c.3600A>C (p.Arg1200Ser) c.5514A>C (p.Arg1838Ser) c.5238A>C (p.Arg1746Ser) | gnomAD v4 |
9 | g.115046570T= | CA1874118914 | TNC | c.318-4229A= c.3215-4229A= (n.3215-4229A=) c.3876A= (p.Arg1292=) c.1908A= (p.Arg636=) c.564A= (p.Arg188=) c.3923A= c.4965A= (p.Arg1655=) c.4419A= (p.Arg1473=) c.4307-4229A= (n.4307-4229A=) n.283A= n.253-4229A= n.40-4229A= c.652A= c.4692A= (p.Arg1564=) c.4034-4229A= (n.4034-4229A=) c.3327A= (p.Arg1109=) c.5241A= (p.Arg1747=) c.3488-4229A= (n.3488-4229A=) c.4968A= (p.Arg1656=) c.4422A= (p.Arg1474=) c.4580-4229A= (n.4580-4229A=) c.4149A= (p.Arg1383=) c.3761-4229A= (n.3761-4229A=) c.3600A= (p.Arg1200=) c.5514A= (p.Arg1838=) c.5238A= (p.Arg1746=) | |
9 | g.115046571C>A | CA374631106 | TNC | c.318-4230G>T c.3215-4230G>T (n.3215-4230G>T) c.3875G>T (p.Arg1292Ile) c.1907G>T (p.Arg636Ile) c.563G>T (p.Arg188Ile) c.3922G>T c.4964G>T (p.Arg1655Ile) c.4418G>T (p.Arg1473Ile) c.4307-4230G>T (n.4307-4230G>T) n.282G>T n.253-4230G>T n.40-4230G>T c.651G>T c.4691G>T (p.Arg1564Ile) c.4034-4230G>T (n.4034-4230G>T) c.3326G>T (p.Arg1109Ile) c.5240G>T (p.Arg1747Ile) c.3488-4230G>T (n.3488-4230G>T) c.4967G>T (p.Arg1656Ile) c.4421G>T (p.Arg1474Ile) c.4580-4230G>T (n.4580-4230G>T) c.4148G>T (p.Arg1383Ile) c.3761-4230G>T (n.3761-4230G>T) c.3599G>T (p.Arg1200Ile) c.5513G>T (p.Arg1838Ile) c.5237G>T (p.Arg1746Ile) | COSMIC |
9 | g.115046571C= | CA1874118915 | TNC | c.318-4230G= c.3215-4230G= (n.3215-4230G=) c.3875G= (p.Arg1292=) c.1907G= (p.Arg636=) c.563G= (p.Arg188=) c.3922G= c.4964G= (p.Arg1655=) c.4418G= (p.Arg1473=) c.4307-4230G= (n.4307-4230G=) n.282G= n.253-4230G= n.40-4230G= c.651G= c.4691G= (p.Arg1564=) c.4034-4230G= (n.4034-4230G=) c.3326G= (p.Arg1109=) c.5240G= (p.Arg1747=) c.3488-4230G= (n.3488-4230G=) c.4967G= (p.Arg1656=) c.4421G= (p.Arg1474=) c.4580-4230G= (n.4580-4230G=) c.4148G= (p.Arg1383=) c.3761-4230G= (n.3761-4230G=) c.3599G= (p.Arg1200=) c.5513G= (p.Arg1838=) c.5237G= (p.Arg1746=) | |
9 | g.115046571C>G | CA374631109 | TNC | c.318-4230G>C c.3215-4230G>C (n.3215-4230G>C) c.3875G>C (p.Arg1292Thr) c.1907G>C (p.Arg636Thr) c.563G>C (p.Arg188Thr) c.3922G>C c.4964G>C (p.Arg1655Thr) c.4418G>C (p.Arg1473Thr) c.4307-4230G>C (n.4307-4230G>C) n.282G>C n.253-4230G>C n.40-4230G>C c.651G>C c.4691G>C (p.Arg1564Thr) c.4034-4230G>C (n.4034-4230G>C) c.3326G>C (p.Arg1109Thr) c.5240G>C (p.Arg1747Thr) c.3488-4230G>C (n.3488-4230G>C) c.4967G>C (p.Arg1656Thr) c.4421G>C (p.Arg1474Thr) c.4580-4230G>C (n.4580-4230G>C) c.4148G>C (p.Arg1383Thr) c.3761-4230G>C (n.3761-4230G>C) c.3599G>C (p.Arg1200Thr) c.5513G>C (p.Arg1838Thr) c.5237G>C (p.Arg1746Thr) | |
9 | g.115046571C>T | CA374631107 | TNC | c.318-4230G>A c.3215-4230G>A (n.3215-4230G>A) c.3875G>A (p.Arg1292Lys) c.1907G>A (p.Arg636Lys) c.563G>A (p.Arg188Lys) c.3922G>A c.4964G>A (p.Arg1655Lys) c.4418G>A (p.Arg1473Lys) c.4307-4230G>A (n.4307-4230G>A) n.282G>A n.253-4230G>A n.40-4230G>A c.651G>A c.4691G>A (p.Arg1564Lys) c.4034-4230G>A (n.4034-4230G>A) c.3326G>A (p.Arg1109Lys) c.5240G>A (p.Arg1747Lys) c.3488-4230G>A (n.3488-4230G>A) c.4967G>A (p.Arg1656Lys) c.4421G>A (p.Arg1474Lys) c.4580-4230G>A (n.4580-4230G>A) c.4148G>A (p.Arg1383Lys) c.3761-4230G>A (n.3761-4230G>A) c.3599G>A (p.Arg1200Lys) c.5513G>A (p.Arg1838Lys) c.5237G>A (p.Arg1746Lys) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.115046572T>A | CA374631110 | TNC | c.318-4231A>T c.3215-4231A>T (n.3215-4231A>T) c.3874A>T (p.Arg1292Ter) c.1906A>T (p.Arg636Ter) c.562A>T (p.Arg188Ter) c.3921A>T c.4963A>T (p.Arg1655Ter) c.4417A>T (p.Arg1473Ter) c.4307-4231A>T (n.4307-4231A>T) n.281A>T n.253-4231A>T n.40-4231A>T c.650A>T c.4690A>T (p.Arg1564Ter) c.4034-4231A>T (n.4034-4231A>T) c.3325A>T (p.Arg1109Ter) c.5239A>T (p.Arg1747Ter) c.3488-4231A>T (n.3488-4231A>T) c.4966A>T (p.Arg1656Ter) c.4420A>T (p.Arg1474Ter) c.4580-4231A>T (n.4580-4231A>T) c.4147A>T (p.Arg1383Ter) c.3761-4231A>T (n.3761-4231A>T) c.3598A>T (p.Arg1200Ter) c.5512A>T (p.Arg1838Ter) c.5236A>T (p.Arg1746Ter) | |
9 | g.115046572T>C | CA374631112 | TNC | c.318-4231A>G c.3215-4231A>G (n.3215-4231A>G) c.3874A>G (p.Arg1292Gly) c.1906A>G (p.Arg636Gly) c.562A>G (p.Arg188Gly) c.3921A>G c.4963A>G (p.Arg1655Gly) c.4417A>G (p.Arg1473Gly) c.4307-4231A>G (n.4307-4231A>G) n.281A>G n.253-4231A>G n.40-4231A>G c.650A>G c.4690A>G (p.Arg1564Gly) c.4034-4231A>G (n.4034-4231A>G) c.3325A>G (p.Arg1109Gly) c.5239A>G (p.Arg1747Gly) c.3488-4231A>G (n.3488-4231A>G) c.4966A>G (p.Arg1656Gly) c.4420A>G (p.Arg1474Gly) c.4580-4231A>G (n.4580-4231A>G) c.4147A>G (p.Arg1383Gly) c.3761-4231A>G (n.3761-4231A>G) c.3598A>G (p.Arg1200Gly) c.5512A>G (p.Arg1838Gly) c.5236A>G (p.Arg1746Gly) | dbSNP |
9 | g.115046572T>G | CA466912487 | TNC | c.318-4231A>C c.3215-4231A>C (n.3215-4231A>C) c.3874A>C (p.Arg1292=) c.1906A>C (p.Arg636=) c.562A>C (p.Arg188=) c.3921A>C c.4963A>C (p.Arg1655=) c.4417A>C (p.Arg1473=) c.4307-4231A>C (n.4307-4231A>C) n.281A>C n.253-4231A>C n.40-4231A>C c.650A>C c.4690A>C (p.Arg1564=) c.4034-4231A>C (n.4034-4231A>C) c.3325A>C (p.Arg1109=) c.5239A>C (p.Arg1747=) c.3488-4231A>C (n.3488-4231A>C) c.4966A>C (p.Arg1656=) c.4420A>C (p.Arg1474=) c.4580-4231A>C (n.4580-4231A>C) c.4147A>C (p.Arg1383=) c.3761-4231A>C (n.3761-4231A>C) c.3598A>C (p.Arg1200=) c.5512A>C (p.Arg1838=) c.5236A>C (p.Arg1746=) | |
9 | g.115046572T= | CA1874118916 | TNC | c.318-4231A= c.3215-4231A= (n.3215-4231A=) c.3874A= (p.Arg1292=) c.1906A= (p.Arg636=) c.562A= (p.Arg188=) c.3921A= c.4963A= (p.Arg1655=) c.4417A= (p.Arg1473=) c.4307-4231A= (n.4307-4231A=) n.281A= n.253-4231A= n.40-4231A= c.650A= c.4690A= (p.Arg1564=) c.4034-4231A= (n.4034-4231A=) c.3325A= (p.Arg1109=) c.5239A= (p.Arg1747=) c.3488-4231A= (n.3488-4231A=) c.4966A= (p.Arg1656=) c.4420A= (p.Arg1474=) c.4580-4231A= (n.4580-4231A=) c.4147A= (p.Arg1383=) c.3761-4231A= (n.3761-4231A=) c.3598A= (p.Arg1200=) c.5512A= (p.Arg1838=) c.5236A= (p.Arg1746=) | |
9 | g.115046573G>A | CA198692687 | TNC | c.318-4232C>T c.3215-4232C>T (n.3215-4232C>T) c.3873C>T (p.Ile1291=) c.1905C>T (p.Ile635=) c.561C>T (p.Ile187=) c.3920C>T c.4962C>T (p.Ile1654=) c.4416C>T (p.Ile1472=) c.4307-4232C>T (n.4307-4232C>T) n.280C>T n.253-4232C>T n.40-4232C>T c.649C>T c.4689C>T (p.Ile1563=) c.4034-4232C>T (n.4034-4232C>T) c.3324C>T (p.Ile1108=) c.5238C>T (p.Ile1746=) c.3488-4232C>T (n.3488-4232C>T) c.4965C>T (p.Ile1655=) c.4419C>T (p.Ile1473=) c.4580-4232C>T (n.4580-4232C>T) c.4146C>T (p.Ile1382=) c.3761-4232C>T (n.3761-4232C>T) c.3597C>T (p.Ile1199=) c.5511C>T (p.Ile1837=) c.5235C>T (p.Ile1745=) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.115046573G>C | CA374631113 | TNC | c.318-4232C>G c.3215-4232C>G (n.3215-4232C>G) c.3873C>G (p.Ile1291Met) c.1905C>G (p.Ile635Met) c.561C>G (p.Ile187Met) c.3920C>G c.4962C>G (p.Ile1654Met) c.4416C>G (p.Ile1472Met) c.4307-4232C>G (n.4307-4232C>G) n.280C>G n.253-4232C>G n.40-4232C>G c.649C>G c.4689C>G (p.Ile1563Met) c.4034-4232C>G (n.4034-4232C>G) c.3324C>G (p.Ile1108Met) c.5238C>G (p.Ile1746Met) c.3488-4232C>G (n.3488-4232C>G) c.4965C>G (p.Ile1655Met) c.4419C>G (p.Ile1473Met) c.4580-4232C>G (n.4580-4232C>G) c.4146C>G (p.Ile1382Met) c.3761-4232C>G (n.3761-4232C>G) c.3597C>G (p.Ile1199Met) c.5511C>G (p.Ile1837Met) c.5235C>G (p.Ile1745Met) | gnomAD v4 |
9 | g.115046573G= | CA1874118917 | TNC | c.318-4232C= c.3215-4232C= (n.3215-4232C=) c.3873C= (p.Ile1291=) c.1905C= (p.Ile635=) c.561C= (p.Ile187=) c.3920C= c.4962C= (p.Ile1654=) c.4416C= (p.Ile1472=) c.4307-4232C= (n.4307-4232C=) n.280C= n.253-4232C= n.40-4232C= c.649C= c.4689C= (p.Ile1563=) c.4034-4232C= (n.4034-4232C=) c.3324C= (p.Ile1108=) c.5238C= (p.Ile1746=) c.3488-4232C= (n.3488-4232C=) c.4965C= (p.Ile1655=) c.4419C= (p.Ile1473=) c.4580-4232C= (n.4580-4232C=) c.4146C= (p.Ile1382=) c.3761-4232C= (n.3761-4232C=) c.3597C= (p.Ile1199=) c.5511C= (p.Ile1837=) c.5235C= (p.Ile1745=) | |
9 | g.115046573G>T | CA466912489 | TNC | c.318-4232C>A c.3215-4232C>A (n.3215-4232C>A) c.3873C>A (p.Ile1291=) c.1905C>A (p.Ile635=) c.561C>A (p.Ile187=) c.3920C>A c.4962C>A (p.Ile1654=) c.4416C>A (p.Ile1472=) c.4307-4232C>A (n.4307-4232C>A) n.280C>A n.253-4232C>A n.40-4232C>A c.649C>A c.4689C>A (p.Ile1563=) c.4034-4232C>A (n.4034-4232C>A) c.3324C>A (p.Ile1108=) c.5238C>A (p.Ile1746=) c.3488-4232C>A (n.3488-4232C>A) c.4965C>A (p.Ile1655=) c.4419C>A (p.Ile1473=) c.4580-4232C>A (n.4580-4232C>A) c.4146C>A (p.Ile1382=) c.3761-4232C>A (n.3761-4232C>A) c.3597C>A (p.Ile1199=) c.5511C>A (p.Ile1837=) c.5235C>A (p.Ile1745=) | |
9 | g.115046574A= | CA1874118918 | TNC | c.318-4233T= c.3215-4233T= (n.3215-4233T=) c.3872T= (p.Ile1291=) c.1904T= (p.Ile635=) c.560T= (p.Ile187=) c.3919T= c.4961T= (p.Ile1654=) c.4415T= (p.Ile1472=) c.4307-4233T= (n.4307-4233T=) n.279T= n.253-4233T= n.40-4233T= c.648T= c.4688T= (p.Ile1563=) c.4034-4233T= (n.4034-4233T=) c.3323T= (p.Ile1108=) c.5237T= (p.Ile1746=) c.3488-4233T= (n.3488-4233T=) c.4964T= (p.Ile1655=) c.4418T= (p.Ile1473=) c.4580-4233T= (n.4580-4233T=) c.4145T= (p.Ile1382=) c.3761-4233T= (n.3761-4233T=) c.3596T= (p.Ile1199=) c.5510T= (p.Ile1837=) c.5234T= (p.Ile1745=) | |
9 | g.115046574A>C | CA374631116 | TNC | c.318-4233T>G c.3215-4233T>G (n.3215-4233T>G) c.3872T>G (p.Ile1291Ser) c.1904T>G (p.Ile635Ser) c.560T>G (p.Ile187Ser) c.3919T>G c.4961T>G (p.Ile1654Ser) c.4415T>G (p.Ile1472Ser) c.4307-4233T>G (n.4307-4233T>G) n.279T>G n.253-4233T>G n.40-4233T>G c.648T>G c.4688T>G (p.Ile1563Ser) c.4034-4233T>G (n.4034-4233T>G) c.3323T>G (p.Ile1108Ser) c.5237T>G (p.Ile1746Ser) c.3488-4233T>G (n.3488-4233T>G) c.4964T>G (p.Ile1655Ser) c.4418T>G (p.Ile1473Ser) c.4580-4233T>G (n.4580-4233T>G) c.4145T>G (p.Ile1382Ser) c.3761-4233T>G (n.3761-4233T>G) c.3596T>G (p.Ile1199Ser) c.5510T>G (p.Ile1837Ser) c.5234T>G (p.Ile1745Ser) | |
9 | g.115046574A>G | CA374631117 | TNC | c.318-4233T>C c.3215-4233T>C (n.3215-4233T>C) c.3872T>C (p.Ile1291Thr) c.1904T>C (p.Ile635Thr) c.560T>C (p.Ile187Thr) c.3919T>C c.4961T>C (p.Ile1654Thr) c.4415T>C (p.Ile1472Thr) c.4307-4233T>C (n.4307-4233T>C) n.279T>C n.253-4233T>C n.40-4233T>C c.648T>C c.4688T>C (p.Ile1563Thr) c.4034-4233T>C (n.4034-4233T>C) c.3323T>C (p.Ile1108Thr) c.5237T>C (p.Ile1746Thr) c.3488-4233T>C (n.3488-4233T>C) c.4964T>C (p.Ile1655Thr) c.4418T>C (p.Ile1473Thr) c.4580-4233T>C (n.4580-4233T>C) c.4145T>C (p.Ile1382Thr) c.3761-4233T>C (n.3761-4233T>C) c.3596T>C (p.Ile1199Thr) c.5510T>C (p.Ile1837Thr) c.5234T>C (p.Ile1745Thr) | |
9 | g.115046574A>T | CA374631118 | TNC | c.318-4233T>A c.3215-4233T>A (n.3215-4233T>A) c.3872T>A (p.Ile1291Asn) c.1904T>A (p.Ile635Asn) c.560T>A (p.Ile187Asn) c.3919T>A c.4961T>A (p.Ile1654Asn) c.4415T>A (p.Ile1472Asn) c.4307-4233T>A (n.4307-4233T>A) n.279T>A n.253-4233T>A n.40-4233T>A c.648T>A c.4688T>A (p.Ile1563Asn) c.4034-4233T>A (n.4034-4233T>A) c.3323T>A (p.Ile1108Asn) c.5237T>A (p.Ile1746Asn) c.3488-4233T>A (n.3488-4233T>A) c.4964T>A (p.Ile1655Asn) c.4418T>A (p.Ile1473Asn) c.4580-4233T>A (n.4580-4233T>A) c.4145T>A (p.Ile1382Asn) c.3761-4233T>A (n.3761-4233T>A) c.3596T>A (p.Ile1199Asn) c.5510T>A (p.Ile1837Asn) c.5234T>A (p.Ile1745Asn) | dbSNP |
9 | g.115046574_115046575insAAGCCGGGGCATCACTACA | CA2785673974 | TNC | c.318-4233_318-4232insGTAGTGATGCCCCGGCTTT c.3215-4233_3215-4232insGTAGTGATGCCCCGGCTTT (n.3215-4233_3215-4232insGTAGTGATGCCCCGGCTTT) c.3872_3873insGTAGTGATGCCCCGGCTTT (p.Ile1291MetfsTer2) c.1904_1905insGTAGTGATGCCCCGGCTTT (p.Ile635MetfsTer2) c.560_561insGTAGTGATGCCCCGGCTTT (p.Ile187MetfsTer2) c.3919_3920insGTAGTGATGCCCCGGCTTT c.4961_4962insGTAGTGATGCCCCGGCTTT (p.Ile1654MetfsTer2) c.4415_4416insGTAGTGATGCCCCGGCTTT (p.Ile1472MetfsTer2) c.4307-4233_4307-4232insGTAGTGATGCCCCGGCTTT (n.4307-4233_4307-4232insGTAGTGATGCCCCGGCTTT) n.279_280insGTAGTGATGCCCCGGCTTT n.253-4233_253-4232insGTAGTGATGCCCCGGCTTT n.40-4233_40-4232insGTAGTGATGCCCCGGCTTT c.648_649insGTAGTGATGCCCCGGCTTT c.4688_4689insGTAGTGATGCCCCGGCTTT (p.Ile1563MetfsTer2) c.4034-4233_4034-4232insGTAGTGATGCCCCGGCTTT (n.4034-4233_4034-4232insGTAGTGATGCCCCGGCTTT) c.3323_3324insGTAGTGATGCCCCGGCTTT (p.Ile1108MetfsTer2) c.5237_5238insGTAGTGATGCCCCGGCTTT (p.Ile1746MetfsTer2) c.3488-4233_3488-4232insGTAGTGATGCCCCGGCTTT (n.3488-4233_3488-4232insGTAGTGATGCCCCGGCTTT) c.4964_4965insGTAGTGATGCCCCGGCTTT (p.Ile1655MetfsTer2) c.4418_4419insGTAGTGATGCCCCGGCTTT (p.Ile1473MetfsTer2) c.4580-4233_4580-4232insGTAGTGATGCCCCGGCTTT (n.4580-4233_4580-4232insGTAGTGATGCCCCGGCTTT) c.4145_4146insGTAGTGATGCCCCGGCTTT (p.Ile1382MetfsTer2) c.3761-4233_3761-4232insGTAGTGATGCCCCGGCTTT (n.3761-4233_3761-4232insGTAGTGATGCCCCGGCTTT) c.3596_3597insGTAGTGATGCCCCGGCTTT (p.Ile1199MetfsTer2) c.5510_5511insGTAGTGATGCCCCGGCTTT (p.Ile1837MetfsTer2) c.5234_5235insGTAGTGATGCCCCGGCTTT (p.Ile1745MetfsTer2) | |
9 | g.115046575T>A | CA374631121 | TNC | c.318-4234A>T c.3215-4234A>T (n.3215-4234A>T) c.3871A>T (p.Ile1291Phe) c.1903A>T (p.Ile635Phe) c.559A>T (p.Ile187Phe) c.3918A>T c.4960A>T (p.Ile1654Phe) c.4414A>T (p.Ile1472Phe) c.4307-4234A>T (n.4307-4234A>T) n.278A>T n.253-4234A>T n.40-4234A>T c.647A>T c.4687A>T (p.Ile1563Phe) c.4034-4234A>T (n.4034-4234A>T) c.3322A>T (p.Ile1108Phe) c.5236A>T (p.Ile1746Phe) c.3488-4234A>T (n.3488-4234A>T) c.4963A>T (p.Ile1655Phe) c.4417A>T (p.Ile1473Phe) c.4580-4234A>T (n.4580-4234A>T) c.4144A>T (p.Ile1382Phe) c.3761-4234A>T (n.3761-4234A>T) c.3595A>T (p.Ile1199Phe) c.5509A>T (p.Ile1837Phe) c.5233A>T (p.Ile1745Phe) | gnomAD v4 |
9 | g.115046575T>C | CA374631123 | TNC | c.318-4234A>G c.3215-4234A>G (n.3215-4234A>G) c.3871A>G (p.Ile1291Val) c.1903A>G (p.Ile635Val) c.559A>G (p.Ile187Val) c.3918A>G c.4960A>G (p.Ile1654Val) c.4414A>G (p.Ile1472Val) c.4307-4234A>G (n.4307-4234A>G) n.278A>G n.253-4234A>G n.40-4234A>G c.647A>G c.4687A>G (p.Ile1563Val) c.4034-4234A>G (n.4034-4234A>G) c.3322A>G (p.Ile1108Val) c.5236A>G (p.Ile1746Val) c.3488-4234A>G (n.3488-4234A>G) c.4963A>G (p.Ile1655Val) c.4417A>G (p.Ile1473Val) c.4580-4234A>G (n.4580-4234A>G) c.4144A>G (p.Ile1382Val) c.3761-4234A>G (n.3761-4234A>G) c.3595A>G (p.Ile1199Val) c.5509A>G (p.Ile1837Val) c.5233A>G (p.Ile1745Val) | |
9 | g.115046575T>G | CA374631124 | TNC | c.318-4234A>C c.3215-4234A>C (n.3215-4234A>C) c.3871A>C (p.Ile1291Leu) c.1903A>C (p.Ile635Leu) c.559A>C (p.Ile187Leu) c.3918A>C c.4960A>C (p.Ile1654Leu) c.4414A>C (p.Ile1472Leu) c.4307-4234A>C (n.4307-4234A>C) n.278A>C n.253-4234A>C n.40-4234A>C c.647A>C c.4687A>C (p.Ile1563Leu) c.4034-4234A>C (n.4034-4234A>C) c.3322A>C (p.Ile1108Leu) c.5236A>C (p.Ile1746Leu) c.3488-4234A>C (n.3488-4234A>C) c.4963A>C (p.Ile1655Leu) c.4417A>C (p.Ile1473Leu) c.4580-4234A>C (n.4580-4234A>C) c.4144A>C (p.Ile1382Leu) c.3761-4234A>C (n.3761-4234A>C) c.3595A>C (p.Ile1199Leu) c.5509A>C (p.Ile1837Leu) c.5233A>C (p.Ile1745Leu) | |
9 | g.115046578dup | CA5207779 | TNC | c.318-4234dup c.3215-4234dup (n.3215-4234dup) c.3871dup (p.Ile1291AsnfsTer9) c.1903dup (p.Ile635AsnfsTer9) c.559dup (p.Ile187AsnfsTer9) c.3918dup c.4960dup (p.Ile1654AsnfsTer9) c.4414dup (p.Ile1472AsnfsTer9) c.4307-4234dup (n.4307-4234dup) n.278dup n.253-4234dup n.40-4234dup c.647dup c.4687dup (p.Ile1563AsnfsTer9) c.4034-4234dup (n.4034-4234dup) c.3322dup (p.Ile1108AsnfsTer9) c.5236dup (p.Ile1746AsnfsTer9) c.3488-4234dup (n.3488-4234dup) c.4963dup (p.Ile1655AsnfsTer9) c.4417dup (p.Ile1473AsnfsTer9) c.4580-4234dup (n.4580-4234dup) c.4144dup (p.Ile1382AsnfsTer9) c.3761-4234dup (n.3761-4234dup) c.3595dup (p.Ile1199AsnfsTer9) c.5509dup (p.Ile1837AsnfsTer9) c.5233dup (p.Ile1745AsnfsTer9) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.115046576T>A | CA374631126 | TNC | c.318-4235A>T c.3215-4235A>T (n.3215-4235A>T) c.3870A>T (p.Lys1290Asn) c.1902A>T (p.Lys634Asn) c.558A>T (p.Lys186Asn) c.3917A>T c.4959A>T (p.Lys1653Asn) c.4413A>T (p.Lys1471Asn) c.4307-4235A>T (n.4307-4235A>T) n.277A>T n.253-4235A>T n.40-4235A>T c.646A>T c.4686A>T (p.Lys1562Asn) c.4034-4235A>T (n.4034-4235A>T) c.3321A>T (p.Lys1107Asn) c.5235A>T (p.Lys1745Asn) c.3488-4235A>T (n.3488-4235A>T) c.4962A>T (p.Lys1654Asn) c.4416A>T (p.Lys1472Asn) c.4580-4235A>T (n.4580-4235A>T) c.4143A>T (p.Lys1381Asn) c.3761-4235A>T (n.3761-4235A>T) c.3594A>T (p.Lys1198Asn) c.5508A>T (p.Lys1836Asn) c.5232A>T (p.Lys1744Asn) | |
9 | g.115046576T>C | CA466912491 | TNC | c.318-4235A>G c.3215-4235A>G (n.3215-4235A>G) c.3870A>G (p.Lys1290=) c.1902A>G (p.Lys634=) c.558A>G (p.Lys186=) c.3917A>G c.4959A>G (p.Lys1653=) c.4413A>G (p.Lys1471=) c.4307-4235A>G (n.4307-4235A>G) n.277A>G n.253-4235A>G n.40-4235A>G c.646A>G c.4686A>G (p.Lys1562=) c.4034-4235A>G (n.4034-4235A>G) c.3321A>G (p.Lys1107=) c.5235A>G (p.Lys1745=) c.3488-4235A>G (n.3488-4235A>G) c.4962A>G (p.Lys1654=) c.4416A>G (p.Lys1472=) c.4580-4235A>G (n.4580-4235A>G) c.4143A>G (p.Lys1381=) c.3761-4235A>G (n.3761-4235A>G) c.3594A>G (p.Lys1198=) c.5508A>G (p.Lys1836=) c.5232A>G (p.Lys1744=) | |
9 | g.115046576T>G | CA374631128 | TNC | c.318-4235A>C c.3215-4235A>C (n.3215-4235A>C) c.3870A>C (p.Lys1290Asn) c.1902A>C (p.Lys634Asn) c.558A>C (p.Lys186Asn) c.3917A>C c.4959A>C (p.Lys1653Asn) c.4413A>C (p.Lys1471Asn) c.4307-4235A>C (n.4307-4235A>C) n.277A>C n.253-4235A>C n.40-4235A>C c.646A>C c.4686A>C (p.Lys1562Asn) c.4034-4235A>C (n.4034-4235A>C) c.3321A>C (p.Lys1107Asn) c.5235A>C (p.Lys1745Asn) c.3488-4235A>C (n.3488-4235A>C) c.4962A>C (p.Lys1654Asn) c.4416A>C (p.Lys1472Asn) c.4580-4235A>C (n.4580-4235A>C) c.4143A>C (p.Lys1381Asn) c.3761-4235A>C (n.3761-4235A>C) c.3594A>C (p.Lys1198Asn) c.5508A>C (p.Lys1836Asn) c.5232A>C (p.Lys1744Asn) | |
9 | g.115046577T>A | CA374631129 | TNC | c.318-4236A>T c.3215-4236A>T (n.3215-4236A>T) c.3869A>T (p.Lys1290Ile) c.1901A>T (p.Lys634Ile) c.557A>T (p.Lys186Ile) c.3916A>T c.4958A>T (p.Lys1653Ile) c.4412A>T (p.Lys1471Ile) c.4307-4236A>T (n.4307-4236A>T) n.276A>T n.253-4236A>T n.40-4236A>T c.645A>T c.4685A>T (p.Lys1562Ile) c.4034-4236A>T (n.4034-4236A>T) c.3320A>T (p.Lys1107Ile) c.5234A>T (p.Lys1745Ile) c.3488-4236A>T (n.3488-4236A>T) c.4961A>T (p.Lys1654Ile) c.4415A>T (p.Lys1472Ile) c.4580-4236A>T (n.4580-4236A>T) c.4142A>T (p.Lys1381Ile) c.3761-4236A>T (n.3761-4236A>T) c.3593A>T (p.Lys1198Ile) c.5507A>T (p.Lys1836Ile) c.5231A>T (p.Lys1744Ile) | |
9 | g.115046577T>C | CA374631130 | TNC | c.318-4236A>G c.3215-4236A>G (n.3215-4236A>G) c.3869A>G (p.Lys1290Arg) c.1901A>G (p.Lys634Arg) c.557A>G (p.Lys186Arg) c.3916A>G c.4958A>G (p.Lys1653Arg) c.4412A>G (p.Lys1471Arg) c.4307-4236A>G (n.4307-4236A>G) n.276A>G n.253-4236A>G n.40-4236A>G c.645A>G c.4685A>G (p.Lys1562Arg) c.4034-4236A>G (n.4034-4236A>G) c.3320A>G (p.Lys1107Arg) c.5234A>G (p.Lys1745Arg) c.3488-4236A>G (n.3488-4236A>G) c.4961A>G (p.Lys1654Arg) c.4415A>G (p.Lys1472Arg) c.4580-4236A>G (n.4580-4236A>G) c.4142A>G (p.Lys1381Arg) c.3761-4236A>G (n.3761-4236A>G) c.3593A>G (p.Lys1198Arg) c.5507A>G (p.Lys1836Arg) c.5231A>G (p.Lys1744Arg) | |
9 | g.115046577T>G | CA374631131 | TNC | c.318-4236A>C c.3215-4236A>C (n.3215-4236A>C) c.3869A>C (p.Lys1290Thr) c.1901A>C (p.Lys634Thr) c.557A>C (p.Lys186Thr) c.3916A>C c.4958A>C (p.Lys1653Thr) c.4412A>C (p.Lys1471Thr) c.4307-4236A>C (n.4307-4236A>C) n.276A>C n.253-4236A>C n.40-4236A>C c.645A>C c.4685A>C (p.Lys1562Thr) c.4034-4236A>C (n.4034-4236A>C) c.3320A>C (p.Lys1107Thr) c.5234A>C (p.Lys1745Thr) c.3488-4236A>C (n.3488-4236A>C) c.4961A>C (p.Lys1654Thr) c.4415A>C (p.Lys1472Thr) c.4580-4236A>C (n.4580-4236A>C) c.4142A>C (p.Lys1381Thr) c.3761-4236A>C (n.3761-4236A>C) c.3593A>C (p.Lys1198Thr) c.5507A>C (p.Lys1836Thr) c.5231A>C (p.Lys1744Thr) | dbSNP gnomAD v4 |
9 | g.115046577T= | CA1874118919 | TNC | c.318-4236A= c.3215-4236A= (n.3215-4236A=) c.3869A= (p.Lys1290=) c.1901A= (p.Lys634=) c.557A= (p.Lys186=) c.3916A= c.4958A= (p.Lys1653=) c.4412A= (p.Lys1471=) c.4307-4236A= (n.4307-4236A=) n.276A= n.253-4236A= n.40-4236A= c.645A= c.4685A= (p.Lys1562=) c.4034-4236A= (n.4034-4236A=) c.3320A= (p.Lys1107=) c.5234A= (p.Lys1745=) c.3488-4236A= (n.3488-4236A=) c.4961A= (p.Lys1654=) c.4415A= (p.Lys1472=) c.4580-4236A= (n.4580-4236A=) c.4142A= (p.Lys1381=) c.3761-4236A= (n.3761-4236A=) c.3593A= (p.Lys1198=) c.5507A= (p.Lys1836=) c.5231A= (p.Lys1744=) | |
9 | g.115046578T>A | CA374631136 | TNC | c.318-4237A>T c.3215-4237A>T (n.3215-4237A>T) c.3868A>T (p.Lys1290Ter) c.1900A>T (p.Lys634Ter) c.556A>T (p.Lys186Ter) c.3915A>T c.4957A>T (p.Lys1653Ter) c.4411A>T (p.Lys1471Ter) c.4307-4237A>T (n.4307-4237A>T) n.275A>T n.253-4237A>T n.40-4237A>T c.644A>T c.4684A>T (p.Lys1562Ter) c.4034-4237A>T (n.4034-4237A>T) c.3319A>T (p.Lys1107Ter) c.5233A>T (p.Lys1745Ter) c.3488-4237A>T (n.3488-4237A>T) c.4960A>T (p.Lys1654Ter) c.4414A>T (p.Lys1472Ter) c.4580-4237A>T (n.4580-4237A>T) c.4141A>T (p.Lys1381Ter) c.3761-4237A>T (n.3761-4237A>T) c.3592A>T (p.Lys1198Ter) c.5506A>T (p.Lys1836Ter) c.5230A>T (p.Lys1744Ter) | |
9 | g.115046578T>C | CA374631132 | TNC | c.318-4237A>G c.3215-4237A>G (n.3215-4237A>G) c.3868A>G (p.Lys1290Glu) c.1900A>G (p.Lys634Glu) c.556A>G (p.Lys186Glu) c.3915A>G c.4957A>G (p.Lys1653Glu) c.4411A>G (p.Lys1471Glu) c.4307-4237A>G (n.4307-4237A>G) n.275A>G n.253-4237A>G n.40-4237A>G c.644A>G c.4684A>G (p.Lys1562Glu) c.4034-4237A>G (n.4034-4237A>G) c.3319A>G (p.Lys1107Glu) c.5233A>G (p.Lys1745Glu) c.3488-4237A>G (n.3488-4237A>G) c.4960A>G (p.Lys1654Glu) c.4414A>G (p.Lys1472Glu) c.4580-4237A>G (n.4580-4237A>G) c.4141A>G (p.Lys1381Glu) c.3761-4237A>G (n.3761-4237A>G) c.3592A>G (p.Lys1198Glu) c.5506A>G (p.Lys1836Glu) c.5230A>G (p.Lys1744Glu) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.115046578T>G | CA374631134 | TNC | c.318-4237A>C c.3215-4237A>C (n.3215-4237A>C) c.3868A>C (p.Lys1290Gln) c.1900A>C (p.Lys634Gln) c.556A>C (p.Lys186Gln) c.3915A>C c.4957A>C (p.Lys1653Gln) c.4411A>C (p.Lys1471Gln) c.4307-4237A>C (n.4307-4237A>C) n.275A>C n.253-4237A>C n.40-4237A>C c.644A>C c.4684A>C (p.Lys1562Gln) c.4034-4237A>C (n.4034-4237A>C) c.3319A>C (p.Lys1107Gln) c.5233A>C (p.Lys1745Gln) c.3488-4237A>C (n.3488-4237A>C) c.4960A>C (p.Lys1654Gln) c.4414A>C (p.Lys1472Gln) c.4580-4237A>C (n.4580-4237A>C) c.4141A>C (p.Lys1381Gln) c.3761-4237A>C (n.3761-4237A>C) c.3592A>C (p.Lys1198Gln) c.5506A>C (p.Lys1836Gln) c.5230A>C (p.Lys1744Gln) | |
9 | g.115046578T= | CA1874118920 | TNC | c.318-4237A= c.3215-4237A= (n.3215-4237A=) c.3868A= (p.Lys1290=) c.1900A= (p.Lys634=) c.556A= (p.Lys186=) c.3915A= c.4957A= (p.Lys1653=) c.4411A= (p.Lys1471=) c.4307-4237A= (n.4307-4237A=) n.275A= n.253-4237A= n.40-4237A= c.644A= c.4684A= (p.Lys1562=) c.4034-4237A= (n.4034-4237A=) c.3319A= (p.Lys1107=) c.5233A= (p.Lys1745=) c.3488-4237A= (n.3488-4237A=) c.4960A= (p.Lys1654=) c.4414A= (p.Lys1472=) c.4580-4237A= (n.4580-4237A=) c.4141A= (p.Lys1381=) c.3761-4237A= (n.3761-4237A=) c.3592A= (p.Lys1198=) c.5506A= (p.Lys1836=) c.5230A= (p.Lys1744=) | |
9 | g.115046579G>A | CA5207780 | TNC | c.318-4238C>T c.3215-4238C>T (n.3215-4238C>T) c.3867C>T (p.Leu1289=) c.1899C>T (p.Leu633=) c.555C>T (p.Leu185=) c.3914C>T c.4956C>T (p.Leu1652=) c.4410C>T (p.Leu1470=) c.4307-4238C>T (n.4307-4238C>T) n.274C>T n.253-4238C>T n.40-4238C>T c.643C>T c.4683C>T (p.Leu1561=) c.4034-4238C>T (n.4034-4238C>T) c.3318C>T (p.Leu1106=) c.5232C>T (p.Leu1744=) c.3488-4238C>T (n.3488-4238C>T) c.4959C>T (p.Leu1653=) c.4413C>T (p.Leu1471=) c.4580-4238C>T (n.4580-4238C>T) c.4140C>T (p.Leu1380=) c.3761-4238C>T (n.3761-4238C>T) c.3591C>T (p.Leu1197=) c.5505C>T (p.Leu1835=) c.5229C>T (p.Leu1743=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.115046579G>C | CA466912495 | TNC | c.318-4238C>G c.3215-4238C>G (n.3215-4238C>G) c.3867C>G (p.Leu1289=) c.1899C>G (p.Leu633=) c.555C>G (p.Leu185=) c.3914C>G c.4956C>G (p.Leu1652=) c.4410C>G (p.Leu1470=) c.4307-4238C>G (n.4307-4238C>G) n.274C>G n.253-4238C>G n.40-4238C>G c.643C>G c.4683C>G (p.Leu1561=) c.4034-4238C>G (n.4034-4238C>G) c.3318C>G (p.Leu1106=) c.5232C>G (p.Leu1744=) c.3488-4238C>G (n.3488-4238C>G) c.4959C>G (p.Leu1653=) c.4413C>G (p.Leu1471=) c.4580-4238C>G (n.4580-4238C>G) c.4140C>G (p.Leu1380=) c.3761-4238C>G (n.3761-4238C>G) c.3591C>G (p.Leu1197=) c.5505C>G (p.Leu1835=) c.5229C>G (p.Leu1743=) | |
9 | g.115046579G= | CA1874118921 | TNC | c.318-4238C= c.3215-4238C= (n.3215-4238C=) c.3867C= (p.Leu1289=) c.1899C= (p.Leu633=) c.555C= (p.Leu185=) c.3914C= c.4956C= (p.Leu1652=) c.4410C= (p.Leu1470=) c.4307-4238C= (n.4307-4238C=) n.274C= n.253-4238C= n.40-4238C= c.643C= c.4683C= (p.Leu1561=) c.4034-4238C= (n.4034-4238C=) c.3318C= (p.Leu1106=) c.5232C= (p.Leu1744=) c.3488-4238C= (n.3488-4238C=) c.4959C= (p.Leu1653=) c.4413C= (p.Leu1471=) c.4580-4238C= (n.4580-4238C=) c.4140C= (p.Leu1380=) c.3761-4238C= (n.3761-4238C=) c.3591C= (p.Leu1197=) c.5505C= (p.Leu1835=) c.5229C= (p.Leu1743=) | |
9 | g.115046579G>T | CA466912496 | TNC | c.318-4238C>A c.3215-4238C>A (n.3215-4238C>A) c.3867C>A (p.Leu1289=) c.1899C>A (p.Leu633=) c.555C>A (p.Leu185=) c.3914C>A c.4956C>A (p.Leu1652=) c.4410C>A (p.Leu1470=) c.4307-4238C>A (n.4307-4238C>A) n.274C>A n.253-4238C>A n.40-4238C>A c.643C>A c.4683C>A (p.Leu1561=) c.4034-4238C>A (n.4034-4238C>A) c.3318C>A (p.Leu1106=) c.5232C>A (p.Leu1744=) c.3488-4238C>A (n.3488-4238C>A) c.4959C>A (p.Leu1653=) c.4413C>A (p.Leu1471=) c.4580-4238C>A (n.4580-4238C>A) c.4140C>A (p.Leu1380=) c.3761-4238C>A (n.3761-4238C>A) c.3591C>A (p.Leu1197=) c.5505C>A (p.Leu1835=) c.5229C>A (p.Leu1743=) | |
9 | g.115046580A>C | CA374631138 | TNC | c.318-4239T>G c.3215-4239T>G (n.3215-4239T>G) c.3866T>G (p.Leu1289Arg) c.1898T>G (p.Leu633Arg) c.554T>G (p.Leu185Arg) c.3913T>G c.4955T>G (p.Leu1652Arg) c.4409T>G (p.Leu1470Arg) c.4307-4239T>G (n.4307-4239T>G) n.273T>G n.253-4239T>G n.40-4239T>G c.642T>G c.4682T>G (p.Leu1561Arg) c.4034-4239T>G (n.4034-4239T>G) c.3317T>G (p.Leu1106Arg) c.5231T>G (p.Leu1744Arg) c.3488-4239T>G (n.3488-4239T>G) c.4958T>G (p.Leu1653Arg) c.4412T>G (p.Leu1471Arg) c.4580-4239T>G (n.4580-4239T>G) c.4139T>G (p.Leu1380Arg) c.3761-4239T>G (n.3761-4239T>G) c.3590T>G (p.Leu1197Arg) c.5504T>G (p.Leu1835Arg) c.5228T>G (p.Leu1743Arg) | gnomAD v4 |
9 | g.115046580A>G | CA374631139 | TNC | c.318-4239T>C c.3215-4239T>C (n.3215-4239T>C) c.3866T>C (p.Leu1289Pro) c.1898T>C (p.Leu633Pro) c.554T>C (p.Leu185Pro) c.3913T>C c.4955T>C (p.Leu1652Pro) c.4409T>C (p.Leu1470Pro) c.4307-4239T>C (n.4307-4239T>C) n.273T>C n.253-4239T>C n.40-4239T>C c.642T>C c.4682T>C (p.Leu1561Pro) c.4034-4239T>C (n.4034-4239T>C) c.3317T>C (p.Leu1106Pro) c.5231T>C (p.Leu1744Pro) c.3488-4239T>C (n.3488-4239T>C) c.4958T>C (p.Leu1653Pro) c.4412T>C (p.Leu1471Pro) c.4580-4239T>C (n.4580-4239T>C) c.4139T>C (p.Leu1380Pro) c.3761-4239T>C (n.3761-4239T>C) c.3590T>C (p.Leu1197Pro) c.5504T>C (p.Leu1835Pro) c.5228T>C (p.Leu1743Pro) | |
9 | g.115046580A>T | CA374631141 | TNC | c.318-4239T>A c.3215-4239T>A (n.3215-4239T>A) c.3866T>A (p.Leu1289His) c.1898T>A (p.Leu633His) c.554T>A (p.Leu185His) c.3913T>A c.4955T>A (p.Leu1652His) c.4409T>A (p.Leu1470His) c.4307-4239T>A (n.4307-4239T>A) n.273T>A n.253-4239T>A n.40-4239T>A c.642T>A c.4682T>A (p.Leu1561His) c.4034-4239T>A (n.4034-4239T>A) c.3317T>A (p.Leu1106His) c.5231T>A (p.Leu1744His) c.3488-4239T>A (n.3488-4239T>A) c.4958T>A (p.Leu1653His) c.4412T>A (p.Leu1471His) c.4580-4239T>A (n.4580-4239T>A) c.4139T>A (p.Leu1380His) c.3761-4239T>A (n.3761-4239T>A) c.3590T>A (p.Leu1197His) c.5504T>A (p.Leu1835His) c.5228T>A (p.Leu1743His) | |
9 | g.115046581G>A | CA374631143 | TNC | c.318-4240C>T c.3215-4240C>T (n.3215-4240C>T) c.3865C>T (p.Leu1289Phe) c.1897C>T (p.Leu633Phe) c.553C>T (p.Leu185Phe) c.3912C>T c.4954C>T (p.Leu1652Phe) c.4408C>T (p.Leu1470Phe) c.4307-4240C>T (n.4307-4240C>T) n.272C>T n.253-4240C>T n.40-4240C>T c.641C>T c.4681C>T (p.Leu1561Phe) c.4034-4240C>T (n.4034-4240C>T) c.3316C>T (p.Leu1106Phe) c.5230C>T (p.Leu1744Phe) c.3488-4240C>T (n.3488-4240C>T) c.4957C>T (p.Leu1653Phe) c.4411C>T (p.Leu1471Phe) c.4580-4240C>T (n.4580-4240C>T) c.4138C>T (p.Leu1380Phe) c.3761-4240C>T (n.3761-4240C>T) c.3589C>T (p.Leu1197Phe) c.5503C>T (p.Leu1835Phe) c.5227C>T (p.Leu1743Phe) | |
9 | g.115046581G>C | CA374631144 | TNC | c.318-4240C>G c.3215-4240C>G (n.3215-4240C>G) c.3865C>G (p.Leu1289Val) c.1897C>G (p.Leu633Val) c.553C>G (p.Leu185Val) c.3912C>G c.4954C>G (p.Leu1652Val) c.4408C>G (p.Leu1470Val) c.4307-4240C>G (n.4307-4240C>G) n.272C>G n.253-4240C>G n.40-4240C>G c.641C>G c.4681C>G (p.Leu1561Val) c.4034-4240C>G (n.4034-4240C>G) c.3316C>G (p.Leu1106Val) c.5230C>G (p.Leu1744Val) c.3488-4240C>G (n.3488-4240C>G) c.4957C>G (p.Leu1653Val) c.4411C>G (p.Leu1471Val) c.4580-4240C>G (n.4580-4240C>G) c.4138C>G (p.Leu1380Val) c.3761-4240C>G (n.3761-4240C>G) c.3589C>G (p.Leu1197Val) c.5503C>G (p.Leu1835Val) c.5227C>G (p.Leu1743Val) | |
9 | g.115046581G>T | CA374631146 | TNC | c.318-4240C>A c.3215-4240C>A (n.3215-4240C>A) c.3865C>A (p.Leu1289Ile) c.1897C>A (p.Leu633Ile) c.553C>A (p.Leu185Ile) c.3912C>A c.4954C>A (p.Leu1652Ile) c.4408C>A (p.Leu1470Ile) c.4307-4240C>A (n.4307-4240C>A) n.272C>A n.253-4240C>A n.40-4240C>A c.641C>A c.4681C>A (p.Leu1561Ile) c.4034-4240C>A (n.4034-4240C>A) c.3316C>A (p.Leu1106Ile) c.5230C>A (p.Leu1744Ile) c.3488-4240C>A (n.3488-4240C>A) c.4957C>A (p.Leu1653Ile) c.4411C>A (p.Leu1471Ile) c.4580-4240C>A (n.4580-4240C>A) c.4138C>A (p.Leu1380Ile) c.3761-4240C>A (n.3761-4240C>A) c.3589C>A (p.Leu1197Ile) c.5503C>A (p.Leu1835Ile) c.5227C>A (p.Leu1743Ile) | |
9 | g.115046582A= | CA1874118922 | TNC | c.318-4241T= c.3215-4241T= (n.3215-4241T=) c.3864T= (p.Val1288=) c.1896T= (p.Val632=) c.552T= (p.Val184=) c.3911T= c.4953T= (p.Val1651=) c.4407T= (p.Val1469=) c.4307-4241T= (n.4307-4241T=) n.271T= n.253-4241T= n.40-4241T= c.640T= c.4680T= (p.Val1560=) c.4034-4241T= (n.4034-4241T=) c.3315T= (p.Val1105=) c.5229T= (p.Val1743=) c.3488-4241T= (n.3488-4241T=) c.4956T= (p.Val1652=) c.4410T= (p.Val1470=) c.4580-4241T= (n.4580-4241T=) c.4137T= (p.Val1379=) c.3761-4241T= (n.3761-4241T=) c.3588T= (p.Val1196=) c.5502T= (p.Val1834=) c.5226T= (p.Val1742=) | |
9 | g.115046582A>C | CA466912497 | TNC | c.318-4241T>G c.3215-4241T>G (n.3215-4241T>G) c.3864T>G (p.Val1288=) c.1896T>G (p.Val632=) c.552T>G (p.Val184=) c.3911T>G c.4953T>G (p.Val1651=) c.4407T>G (p.Val1469=) c.4307-4241T>G (n.4307-4241T>G) n.271T>G n.253-4241T>G n.40-4241T>G c.640T>G c.4680T>G (p.Val1560=) c.4034-4241T>G (n.4034-4241T>G) c.3315T>G (p.Val1105=) c.5229T>G (p.Val1743=) c.3488-4241T>G (n.3488-4241T>G) c.4956T>G (p.Val1652=) c.4410T>G (p.Val1470=) c.4580-4241T>G (n.4580-4241T>G) c.4137T>G (p.Val1379=) c.3761-4241T>G (n.3761-4241T>G) c.3588T>G (p.Val1196=) c.5502T>G (p.Val1834=) c.5226T>G (p.Val1742=) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.115046582A>G | CA466912498 | TNC | c.318-4241T>C c.3215-4241T>C (n.3215-4241T>C) c.3864T>C (p.Val1288=) c.1896T>C (p.Val632=) c.552T>C (p.Val184=) c.3911T>C c.4953T>C (p.Val1651=) c.4407T>C (p.Val1469=) c.4307-4241T>C (n.4307-4241T>C) n.271T>C n.253-4241T>C n.40-4241T>C c.640T>C c.4680T>C (p.Val1560=) c.4034-4241T>C (n.4034-4241T>C) c.3315T>C (p.Val1105=) c.5229T>C (p.Val1743=) c.3488-4241T>C (n.3488-4241T>C) c.4956T>C (p.Val1652=) c.4410T>C (p.Val1470=) c.4580-4241T>C (n.4580-4241T>C) c.4137T>C (p.Val1379=) c.3761-4241T>C (n.3761-4241T>C) c.3588T>C (p.Val1196=) c.5502T>C (p.Val1834=) c.5226T>C (p.Val1742=) | gnomAD v4 |
9 | g.115046582A>T | CA466912499 | TNC | c.318-4241T>A c.3215-4241T>A (n.3215-4241T>A) c.3864T>A (p.Val1288=) c.1896T>A (p.Val632=) c.552T>A (p.Val184=) c.3911T>A c.4953T>A (p.Val1651=) c.4407T>A (p.Val1469=) c.4307-4241T>A (n.4307-4241T>A) n.271T>A n.253-4241T>A n.40-4241T>A c.640T>A c.4680T>A (p.Val1560=) c.4034-4241T>A (n.4034-4241T>A) c.3315T>A (p.Val1105=) c.5229T>A (p.Val1743=) c.3488-4241T>A (n.3488-4241T>A) c.4956T>A (p.Val1652=) c.4410T>A (p.Val1470=) c.4580-4241T>A (n.4580-4241T>A) c.4137T>A (p.Val1379=) c.3761-4241T>A (n.3761-4241T>A) c.3588T>A (p.Val1196=) c.5502T>A (p.Val1834=) c.5226T>A (p.Val1742=) | |
9 | g.115046583A= | CA1874118923 | TNC | c.318-4242T= c.3215-4242T= (n.3215-4242T=) c.3863T= (p.Val1288=) c.1895T= (p.Val632=) c.551T= (p.Val184=) c.3910T= c.4952T= (p.Val1651=) c.4406T= (p.Val1469=) c.4307-4242T= (n.4307-4242T=) n.270T= n.253-4242T= n.40-4242T= c.639T= c.4679T= (p.Val1560=) c.4034-4242T= (n.4034-4242T=) c.3314T= (p.Val1105=) c.5228T= (p.Val1743=) c.3488-4242T= (n.3488-4242T=) c.4955T= (p.Val1652=) c.4409T= (p.Val1470=) c.4580-4242T= (n.4580-4242T=) c.4136T= (p.Val1379=) c.3761-4242T= (n.3761-4242T=) c.3587T= (p.Val1196=) c.5501T= (p.Val1834=) c.5225T= (p.Val1742=) | |
9 | g.115046583A>C | CA374631148 | TNC | c.318-4242T>G c.3215-4242T>G (n.3215-4242T>G) c.3863T>G (p.Val1288Gly) c.1895T>G (p.Val632Gly) c.551T>G (p.Val184Gly) c.3910T>G c.4952T>G (p.Val1651Gly) c.4406T>G (p.Val1469Gly) c.4307-4242T>G (n.4307-4242T>G) n.270T>G n.253-4242T>G n.40-4242T>G c.639T>G c.4679T>G (p.Val1560Gly) c.4034-4242T>G (n.4034-4242T>G) c.3314T>G (p.Val1105Gly) c.5228T>G (p.Val1743Gly) c.3488-4242T>G (n.3488-4242T>G) c.4955T>G (p.Val1652Gly) c.4409T>G (p.Val1470Gly) c.4580-4242T>G (n.4580-4242T>G) c.4136T>G (p.Val1379Gly) c.3761-4242T>G (n.3761-4242T>G) c.3587T>G (p.Val1196Gly) c.5501T>G (p.Val1834Gly) c.5225T>G (p.Val1742Gly) | |
9 | g.115046583A>G | CA374631150 | TNC | c.318-4242T>C c.3215-4242T>C (n.3215-4242T>C) c.3863T>C (p.Val1288Ala) c.1895T>C (p.Val632Ala) c.551T>C (p.Val184Ala) c.3910T>C c.4952T>C (p.Val1651Ala) c.4406T>C (p.Val1469Ala) c.4307-4242T>C (n.4307-4242T>C) n.270T>C n.253-4242T>C n.40-4242T>C c.639T>C c.4679T>C (p.Val1560Ala) c.4034-4242T>C (n.4034-4242T>C) c.3314T>C (p.Val1105Ala) c.5228T>C (p.Val1743Ala) c.3488-4242T>C (n.3488-4242T>C) c.4955T>C (p.Val1652Ala) c.4409T>C (p.Val1470Ala) c.4580-4242T>C (n.4580-4242T>C) c.4136T>C (p.Val1379Ala) c.3761-4242T>C (n.3761-4242T>C) c.3587T>C (p.Val1196Ala) c.5501T>C (p.Val1834Ala) c.5225T>C (p.Val1742Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.115046583A>T | CA374631151 | TNC | c.318-4242T>A c.3215-4242T>A (n.3215-4242T>A) c.3863T>A (p.Val1288Asp) c.1895T>A (p.Val632Asp) c.551T>A (p.Val184Asp) c.3910T>A c.4952T>A (p.Val1651Asp) c.4406T>A (p.Val1469Asp) c.4307-4242T>A (n.4307-4242T>A) n.270T>A n.253-4242T>A n.40-4242T>A c.639T>A c.4679T>A (p.Val1560Asp) c.4034-4242T>A (n.4034-4242T>A) c.3314T>A (p.Val1105Asp) c.5228T>A (p.Val1743Asp) c.3488-4242T>A (n.3488-4242T>A) c.4955T>A (p.Val1652Asp) c.4409T>A (p.Val1470Asp) c.4580-4242T>A (n.4580-4242T>A) c.4136T>A (p.Val1379Asp) c.3761-4242T>A (n.3761-4242T>A) c.3587T>A (p.Val1196Asp) c.5501T>A (p.Val1834Asp) c.5225T>A (p.Val1742Asp) | |
9 | g.115046584C>A | CA5207781 | TNC | c.318-4243G>T c.3215-4243G>T (n.3215-4243G>T) c.3862G>T (p.Val1288Phe) c.1894G>T (p.Val632Phe) c.550G>T (p.Val184Phe) c.3909G>T c.4951G>T (p.Val1651Phe) c.4405G>T (p.Val1469Phe) c.4307-4243G>T (n.4307-4243G>T) n.269G>T n.253-4243G>T n.40-4243G>T c.638G>T c.4678G>T (p.Val1560Phe) c.4034-4243G>T (n.4034-4243G>T) c.3313G>T (p.Val1105Phe) c.5227G>T (p.Val1743Phe) c.3488-4243G>T (n.3488-4243G>T) c.4954G>T (p.Val1652Phe) c.4408G>T (p.Val1470Phe) c.4580-4243G>T (n.4580-4243G>T) c.4135G>T (p.Val1379Phe) c.3761-4243G>T (n.3761-4243G>T) c.3586G>T (p.Val1196Phe) c.5500G>T (p.Val1834Phe) c.5224G>T (p.Val1742Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.115046584C= | CA1874118924 | TNC | c.318-4243G= c.3215-4243G= (n.3215-4243G=) c.3862G= (p.Val1288=) c.1894G= (p.Val632=) c.550G= (p.Val184=) c.3909G= c.4951G= (p.Val1651=) c.4405G= (p.Val1469=) c.4307-4243G= (n.4307-4243G=) n.269G= n.253-4243G= n.40-4243G= c.638G= c.4678G= (p.Val1560=) c.4034-4243G= (n.4034-4243G=) c.3313G= (p.Val1105=) c.5227G= (p.Val1743=) c.3488-4243G= (n.3488-4243G=) c.4954G= (p.Val1652=) c.4408G= (p.Val1470=) c.4580-4243G= (n.4580-4243G=) c.4135G= (p.Val1379=) c.3761-4243G= (n.3761-4243G=) c.3586G= (p.Val1196=) c.5500G= (p.Val1834=) c.5224G= (p.Val1742=) | |
9 | g.115046584C>G | CA374631154 | TNC | c.318-4243G>C c.3215-4243G>C (n.3215-4243G>C) c.3862G>C (p.Val1288Leu) c.1894G>C (p.Val632Leu) c.550G>C (p.Val184Leu) c.3909G>C c.4951G>C (p.Val1651Leu) c.4405G>C (p.Val1469Leu) c.4307-4243G>C (n.4307-4243G>C) n.269G>C n.253-4243G>C n.40-4243G>C c.638G>C c.4678G>C (p.Val1560Leu) c.4034-4243G>C (n.4034-4243G>C) c.3313G>C (p.Val1105Leu) c.5227G>C (p.Val1743Leu) c.3488-4243G>C (n.3488-4243G>C) c.4954G>C (p.Val1652Leu) c.4408G>C (p.Val1470Leu) c.4580-4243G>C (n.4580-4243G>C) c.4135G>C (p.Val1379Leu) c.3761-4243G>C (n.3761-4243G>C) c.3586G>C (p.Val1196Leu) c.5500G>C (p.Val1834Leu) c.5224G>C (p.Val1742Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.115046584C>T | CA374631156 | TNC | c.318-4243G>A c.3215-4243G>A (n.3215-4243G>A) c.3862G>A (p.Val1288Ile) c.1894G>A (p.Val632Ile) c.550G>A (p.Val184Ile) c.3909G>A c.4951G>A (p.Val1651Ile) c.4405G>A (p.Val1469Ile) c.4307-4243G>A (n.4307-4243G>A) n.269G>A n.253-4243G>A n.40-4243G>A c.638G>A c.4678G>A (p.Val1560Ile) c.4034-4243G>A (n.4034-4243G>A) c.3313G>A (p.Val1105Ile) c.5227G>A (p.Val1743Ile) c.3488-4243G>A (n.3488-4243G>A) c.4954G>A (p.Val1652Ile) c.4408G>A (p.Val1470Ile) c.4580-4243G>A (n.4580-4243G>A) c.4135G>A (p.Val1379Ile) c.3761-4243G>A (n.3761-4243G>A) c.3586G>A (p.Val1196Ile) c.5500G>A (p.Val1834Ile) c.5224G>A (p.Val1742Ile) | ClinVar dbSNP |
9 | g.115046585A= | CA1874118925 | TNC | c.318-4244T= c.3215-4244T= (n.3215-4244T=) c.3861T= (p.Phe1287=) c.1893T= (p.Phe631=) c.549T= (p.Phe183=) c.3908T= c.4950T= (p.Phe1650=) c.4404T= (p.Phe1468=) c.4307-4244T= (n.4307-4244T=) n.268T= n.253-4244T= n.40-4244T= c.637T= c.4677T= (p.Phe1559=) c.4034-4244T= (n.4034-4244T=) c.3312T= (p.Phe1104=) c.5226T= (p.Phe1742=) c.3488-4244T= (n.3488-4244T=) c.4953T= (p.Phe1651=) c.4407T= (p.Phe1469=) c.4580-4244T= (n.4580-4244T=) c.4134T= (p.Phe1378=) c.3761-4244T= (n.3761-4244T=) c.3585T= (p.Phe1195=) c.5499T= (p.Phe1833=) c.5223T= (p.Phe1741=) | |
9 | g.115046585A>C | CA374631157 | TNC | c.318-4244T>G c.3215-4244T>G (n.3215-4244T>G) c.3861T>G (p.Phe1287Leu) c.1893T>G (p.Phe631Leu) c.549T>G (p.Phe183Leu) c.3908T>G c.4950T>G (p.Phe1650Leu) c.4404T>G (p.Phe1468Leu) c.4307-4244T>G (n.4307-4244T>G) n.268T>G n.253-4244T>G n.40-4244T>G c.637T>G c.4677T>G (p.Phe1559Leu) c.4034-4244T>G (n.4034-4244T>G) c.3312T>G (p.Phe1104Leu) c.5226T>G (p.Phe1742Leu) c.3488-4244T>G (n.3488-4244T>G) c.4953T>G (p.Phe1651Leu) c.4407T>G (p.Phe1469Leu) c.4580-4244T>G (n.4580-4244T>G) c.4134T>G (p.Phe1378Leu) c.3761-4244T>G (n.3761-4244T>G) c.3585T>G (p.Phe1195Leu) c.5499T>G (p.Phe1833Leu) c.5223T>G (p.Phe1741Leu) | |
9 | g.115046585A>G | CA466912500 | TNC | c.318-4244T>C c.3215-4244T>C (n.3215-4244T>C) c.3861T>C (p.Phe1287=) c.1893T>C (p.Phe631=) c.549T>C (p.Phe183=) c.3908T>C c.4950T>C (p.Phe1650=) c.4404T>C (p.Phe1468=) c.4307-4244T>C (n.4307-4244T>C) n.268T>C n.253-4244T>C n.40-4244T>C c.637T>C c.4677T>C (p.Phe1559=) c.4034-4244T>C (n.4034-4244T>C) c.3312T>C (p.Phe1104=) c.5226T>C (p.Phe1742=) c.3488-4244T>C (n.3488-4244T>C) c.4953T>C (p.Phe1651=) c.4407T>C (p.Phe1469=) c.4580-4244T>C (n.4580-4244T>C) c.4134T>C (p.Phe1378=) c.3761-4244T>C (n.3761-4244T>C) c.3585T>C (p.Phe1195=) c.5499T>C (p.Phe1833=) c.5223T>C (p.Phe1741=) | |
9 | g.115046585A>T | CA5207782 | TNC | c.318-4244T>A c.3215-4244T>A (n.3215-4244T>A) c.3861T>A (p.Phe1287Leu) c.1893T>A (p.Phe631Leu) c.549T>A (p.Phe183Leu) c.3908T>A c.4950T>A (p.Phe1650Leu) c.4404T>A (p.Phe1468Leu) c.4307-4244T>A (n.4307-4244T>A) n.268T>A n.253-4244T>A n.40-4244T>A c.637T>A c.4677T>A (p.Phe1559Leu) c.4034-4244T>A (n.4034-4244T>A) c.3312T>A (p.Phe1104Leu) c.5226T>A (p.Phe1742Leu) c.3488-4244T>A (n.3488-4244T>A) c.4953T>A (p.Phe1651Leu) c.4407T>A (p.Phe1469Leu) c.4580-4244T>A (n.4580-4244T>A) c.4134T>A (p.Phe1378Leu) c.3761-4244T>A (n.3761-4244T>A) c.3585T>A (p.Phe1195Leu) c.5499T>A (p.Phe1833Leu) c.5223T>A (p.Phe1741Leu) | dbSNP ExAC gnomAD v3 gnomAD v4 |
9 | g.115046586A>C | CA374631160 | TNC | c.318-4245T>G c.3215-4245T>G (n.3215-4245T>G) c.3860T>G (p.Phe1287Cys) c.1892T>G (p.Phe631Cys) c.548T>G (p.Phe183Cys) c.3907T>G c.4949T>G (p.Phe1650Cys) c.4403T>G (p.Phe1468Cys) c.4307-4245T>G (n.4307-4245T>G) n.267T>G n.253-4245T>G n.40-4245T>G c.636T>G c.4676T>G (p.Phe1559Cys) c.4034-4245T>G (n.4034-4245T>G) c.3311T>G (p.Phe1104Cys) c.5225T>G (p.Phe1742Cys) c.3488-4245T>G (n.3488-4245T>G) c.4952T>G (p.Phe1651Cys) c.4406T>G (p.Phe1469Cys) c.4580-4245T>G (n.4580-4245T>G) c.4133T>G (p.Phe1378Cys) c.3761-4245T>G (n.3761-4245T>G) c.3584T>G (p.Phe1195Cys) c.5498T>G (p.Phe1833Cys) c.5222T>G (p.Phe1741Cys) | |
9 | g.115046586A>G | CA374631163 | TNC | c.318-4245T>C c.3215-4245T>C (n.3215-4245T>C) c.3860T>C (p.Phe1287Ser) c.1892T>C (p.Phe631Ser) c.548T>C (p.Phe183Ser) c.3907T>C c.4949T>C (p.Phe1650Ser) c.4403T>C (p.Phe1468Ser) c.4307-4245T>C (n.4307-4245T>C) n.267T>C n.253-4245T>C n.40-4245T>C c.636T>C c.4676T>C (p.Phe1559Ser) c.4034-4245T>C (n.4034-4245T>C) c.3311T>C (p.Phe1104Ser) c.5225T>C (p.Phe1742Ser) c.3488-4245T>C (n.3488-4245T>C) c.4952T>C (p.Phe1651Ser) c.4406T>C (p.Phe1469Ser) c.4580-4245T>C (n.4580-4245T>C) c.4133T>C (p.Phe1378Ser) c.3761-4245T>C (n.3761-4245T>C) c.3584T>C (p.Phe1195Ser) c.5498T>C (p.Phe1833Ser) c.5222T>C (p.Phe1741Ser) | |
9 | g.115046586A>T | CA374631162 | TNC | c.318-4245T>A c.3215-4245T>A (n.3215-4245T>A) c.3860T>A (p.Phe1287Tyr) c.1892T>A (p.Phe631Tyr) c.548T>A (p.Phe183Tyr) c.3907T>A c.4949T>A (p.Phe1650Tyr) c.4403T>A (p.Phe1468Tyr) c.4307-4245T>A (n.4307-4245T>A) n.267T>A n.253-4245T>A n.40-4245T>A c.636T>A c.4676T>A (p.Phe1559Tyr) c.4034-4245T>A (n.4034-4245T>A) c.3311T>A (p.Phe1104Tyr) c.5225T>A (p.Phe1742Tyr) c.3488-4245T>A (n.3488-4245T>A) c.4952T>A (p.Phe1651Tyr) c.4406T>A (p.Phe1469Tyr) c.4580-4245T>A (n.4580-4245T>A) c.4133T>A (p.Phe1378Tyr) c.3761-4245T>A (n.3761-4245T>A) c.3584T>A (p.Phe1195Tyr) c.5498T>A (p.Phe1833Tyr) c.5222T>A (p.Phe1741Tyr) | |
9 | g.115046587A>C | CA374631165 | TNC | c.318-4246T>G c.3215-4246T>G (n.3215-4246T>G) c.3859T>G (p.Phe1287Val) c.1891T>G (p.Phe631Val) c.547T>G (p.Phe183Val) c.3906T>G c.4948T>G (p.Phe1650Val) c.4402T>G (p.Phe1468Val) c.4307-4246T>G (n.4307-4246T>G) n.266T>G n.253-4246T>G n.40-4246T>G c.635T>G c.4675T>G (p.Phe1559Val) c.4034-4246T>G (n.4034-4246T>G) c.3310T>G (p.Phe1104Val) c.5224T>G (p.Phe1742Val) c.3488-4246T>G (n.3488-4246T>G) c.4951T>G (p.Phe1651Val) c.4405T>G (p.Phe1469Val) c.4580-4246T>G (n.4580-4246T>G) c.4132T>G (p.Phe1378Val) c.3761-4246T>G (n.3761-4246T>G) c.3583T>G (p.Phe1195Val) c.5497T>G (p.Phe1833Val) c.5221T>G (p.Phe1741Val) | |
9 | g.115046587A>G | CA374631167 | TNC | c.318-4246T>C c.3215-4246T>C (n.3215-4246T>C) c.3859T>C (p.Phe1287Leu) c.1891T>C (p.Phe631Leu) c.547T>C (p.Phe183Leu) c.3906T>C c.4948T>C (p.Phe1650Leu) c.4402T>C (p.Phe1468Leu) c.4307-4246T>C (n.4307-4246T>C) n.266T>C n.253-4246T>C n.40-4246T>C c.635T>C c.4675T>C (p.Phe1559Leu) c.4034-4246T>C (n.4034-4246T>C) c.3310T>C (p.Phe1104Leu) c.5224T>C (p.Phe1742Leu) c.3488-4246T>C (n.3488-4246T>C) c.4951T>C (p.Phe1651Leu) c.4405T>C (p.Phe1469Leu) c.4580-4246T>C (n.4580-4246T>C) c.4132T>C (p.Phe1378Leu) c.3761-4246T>C (n.3761-4246T>C) c.3583T>C (p.Phe1195Leu) c.5497T>C (p.Phe1833Leu) c.5221T>C (p.Phe1741Leu) | |
9 | g.115046587A>T | CA374631168 | TNC | c.318-4246T>A c.3215-4246T>A (n.3215-4246T>A) c.3859T>A (p.Phe1287Ile) c.1891T>A (p.Phe631Ile) c.547T>A (p.Phe183Ile) c.3906T>A c.4948T>A (p.Phe1650Ile) c.4402T>A (p.Phe1468Ile) c.4307-4246T>A (n.4307-4246T>A) n.266T>A n.253-4246T>A n.40-4246T>A c.635T>A c.4675T>A (p.Phe1559Ile) c.4034-4246T>A (n.4034-4246T>A) c.3310T>A (p.Phe1104Ile) c.5224T>A (p.Phe1742Ile) c.3488-4246T>A (n.3488-4246T>A) c.4951T>A (p.Phe1651Ile) c.4405T>A (p.Phe1469Ile) c.4580-4246T>A (n.4580-4246T>A) c.4132T>A (p.Phe1378Ile) c.3761-4246T>A (n.3761-4246T>A) c.3583T>A (p.Phe1195Ile) c.5497T>A (p.Phe1833Ile) c.5221T>A (p.Phe1741Ile) | |
9 | g.115046588A>C | CA374631170 | TNC | c.318-4247T>G c.3215-4247T>G (n.3215-4247T>G) c.3858T>G (p.Asn1286Lys) c.1890T>G (p.Asn630Lys) c.546T>G (p.Asn182Lys) c.3905T>G c.4947T>G (p.Asn1649Lys) c.4401T>G (p.Asn1467Lys) c.4307-4247T>G (n.4307-4247T>G) n.265T>G n.253-4247T>G n.40-4247T>G c.634T>G c.4674T>G (p.Asn1558Lys) c.4034-4247T>G (n.4034-4247T>G) c.3309T>G (p.Asn1103Lys) c.5223T>G (p.Asn1741Lys) c.3488-4247T>G (n.3488-4247T>G) c.4950T>G (p.Asn1650Lys) c.4404T>G (p.Asn1468Lys) c.4580-4247T>G (n.4580-4247T>G) c.4131T>G (p.Asn1377Lys) c.3761-4247T>G (n.3761-4247T>G) c.3582T>G (p.Asn1194Lys) c.5496T>G (p.Asn1832Lys) c.5220T>G (p.Asn1740Lys) | |
9 | g.115046588A>G | CA466912501 | TNC | c.318-4247T>C c.3215-4247T>C (n.3215-4247T>C) c.3858T>C (p.Asn1286=) c.1890T>C (p.Asn630=) c.546T>C (p.Asn182=) c.3905T>C c.4947T>C (p.Asn1649=) c.4401T>C (p.Asn1467=) c.4307-4247T>C (n.4307-4247T>C) n.265T>C n.253-4247T>C n.40-4247T>C c.634T>C c.4674T>C (p.Asn1558=) c.4034-4247T>C (n.4034-4247T>C) c.3309T>C (p.Asn1103=) c.5223T>C (p.Asn1741=) c.3488-4247T>C (n.3488-4247T>C) c.4950T>C (p.Asn1650=) c.4404T>C (p.Asn1468=) c.4580-4247T>C (n.4580-4247T>C) c.4131T>C (p.Asn1377=) c.3761-4247T>C (n.3761-4247T>C) c.3582T>C (p.Asn1194=) c.5496T>C (p.Asn1832=) c.5220T>C (p.Asn1740=) | |
9 | g.115046588A>T | CA374631172 | TNC | c.318-4247T>A c.3215-4247T>A (n.3215-4247T>A) c.3858T>A (p.Asn1286Lys) c.1890T>A (p.Asn630Lys) c.546T>A (p.Asn182Lys) c.3905T>A c.4947T>A (p.Asn1649Lys) c.4401T>A (p.Asn1467Lys) c.4307-4247T>A (n.4307-4247T>A) n.265T>A n.253-4247T>A n.40-4247T>A c.634T>A c.4674T>A (p.Asn1558Lys) c.4034-4247T>A (n.4034-4247T>A) c.3309T>A (p.Asn1103Lys) c.5223T>A (p.Asn1741Lys) c.3488-4247T>A (n.3488-4247T>A) c.4950T>A (p.Asn1650Lys) c.4404T>A (p.Asn1468Lys) c.4580-4247T>A (n.4580-4247T>A) c.4131T>A (p.Asn1377Lys) c.3761-4247T>A (n.3761-4247T>A) c.3582T>A (p.Asn1194Lys) c.5496T>A (p.Asn1832Lys) c.5220T>A (p.Asn1740Lys) | |
9 | g.115046589T>A | CA374631174 | TNC | c.318-4248A>T c.3215-4248A>T (n.3215-4248A>T) c.3857A>T (p.Asn1286Ile) c.1889A>T (p.Asn630Ile) c.545A>T (p.Asn182Ile) c.3904A>T c.4946A>T (p.Asn1649Ile) c.4400A>T (p.Asn1467Ile) c.4307-4248A>T (n.4307-4248A>T) n.264A>T n.253-4248A>T n.40-4248A>T c.633A>T c.4673A>T (p.Asn1558Ile) c.4034-4248A>T (n.4034-4248A>T) c.3308A>T (p.Asn1103Ile) c.5222A>T (p.Asn1741Ile) c.3488-4248A>T (n.3488-4248A>T) c.4949A>T (p.Asn1650Ile) c.4403A>T (p.Asn1468Ile) c.4580-4248A>T (n.4580-4248A>T) c.4130A>T (p.Asn1377Ile) c.3761-4248A>T (n.3761-4248A>T) c.3581A>T (p.Asn1194Ile) c.5495A>T (p.Asn1832Ile) c.5219A>T (p.Asn1740Ile) | |
9 | g.115046589T>C | CA374631175 | TNC | c.318-4248A>G c.3215-4248A>G (n.3215-4248A>G) c.3857A>G (p.Asn1286Ser) c.1889A>G (p.Asn630Ser) c.545A>G (p.Asn182Ser) c.3904A>G c.4946A>G (p.Asn1649Ser) c.4400A>G (p.Asn1467Ser) c.4307-4248A>G (n.4307-4248A>G) n.264A>G n.253-4248A>G n.40-4248A>G c.633A>G c.4673A>G (p.Asn1558Ser) c.4034-4248A>G (n.4034-4248A>G) c.3308A>G (p.Asn1103Ser) c.5222A>G (p.Asn1741Ser) c.3488-4248A>G (n.3488-4248A>G) c.4949A>G (p.Asn1650Ser) c.4403A>G (p.Asn1468Ser) c.4580-4248A>G (n.4580-4248A>G) c.4130A>G (p.Asn1377Ser) c.3761-4248A>G (n.3761-4248A>G) c.3581A>G (p.Asn1194Ser) c.5495A>G (p.Asn1832Ser) c.5219A>G (p.Asn1740Ser) | |
9 | g.115046589T>G | CA374631177 | TNC | c.318-4248A>C c.3215-4248A>C (n.3215-4248A>C) c.3857A>C (p.Asn1286Thr) c.1889A>C (p.Asn630Thr) c.545A>C (p.Asn182Thr) c.3904A>C c.4946A>C (p.Asn1649Thr) c.4400A>C (p.Asn1467Thr) c.4307-4248A>C (n.4307-4248A>C) n.264A>C n.253-4248A>C n.40-4248A>C c.633A>C c.4673A>C (p.Asn1558Thr) c.4034-4248A>C (n.4034-4248A>C) c.3308A>C (p.Asn1103Thr) c.5222A>C (p.Asn1741Thr) c.3488-4248A>C (n.3488-4248A>C) c.4949A>C (p.Asn1650Thr) c.4403A>C (p.Asn1468Thr) c.4580-4248A>C (n.4580-4248A>C) c.4130A>C (p.Asn1377Thr) c.3761-4248A>C (n.3761-4248A>C) c.3581A>C (p.Asn1194Thr) c.5495A>C (p.Asn1832Thr) c.5219A>C (p.Asn1740Thr) | |
9 | g.115046590T>A | CA374631179 | TNC | c.318-4249A>T c.3215-4249A>T (n.3215-4249A>T) c.3856A>T (p.Asn1286Tyr) c.1888A>T (p.Asn630Tyr) c.544A>T (p.Asn182Tyr) c.3903A>T c.4945A>T (p.Asn1649Tyr) c.4399A>T (p.Asn1467Tyr) c.4307-4249A>T (n.4307-4249A>T) n.263A>T n.253-4249A>T n.40-4249A>T c.632A>T c.4672A>T (p.Asn1558Tyr) c.4034-4249A>T (n.4034-4249A>T) c.3307A>T (p.Asn1103Tyr) c.5221A>T (p.Asn1741Tyr) c.3488-4249A>T (n.3488-4249A>T) c.4948A>T (p.Asn1650Tyr) c.4402A>T (p.Asn1468Tyr) c.4580-4249A>T (n.4580-4249A>T) c.4129A>T (p.Asn1377Tyr) c.3761-4249A>T (n.3761-4249A>T) c.3580A>T (p.Asn1194Tyr) c.5494A>T (p.Asn1832Tyr) c.5218A>T (p.Asn1740Tyr) | gnomAD v4 |
9 | g.115046590T>C | CA374631181 | TNC | c.318-4249A>G c.3215-4249A>G (n.3215-4249A>G) c.3856A>G (p.Asn1286Asp) c.1888A>G (p.Asn630Asp) c.544A>G (p.Asn182Asp) c.3903A>G c.4945A>G (p.Asn1649Asp) c.4399A>G (p.Asn1467Asp) c.4307-4249A>G (n.4307-4249A>G) n.263A>G n.253-4249A>G n.40-4249A>G c.632A>G c.4672A>G (p.Asn1558Asp) c.4034-4249A>G (n.4034-4249A>G) c.3307A>G (p.Asn1103Asp) c.5221A>G (p.Asn1741Asp) c.3488-4249A>G (n.3488-4249A>G) c.4948A>G (p.Asn1650Asp) c.4402A>G (p.Asn1468Asp) c.4580-4249A>G (n.4580-4249A>G) c.4129A>G (p.Asn1377Asp) c.3761-4249A>G (n.3761-4249A>G) c.3580A>G (p.Asn1194Asp) c.5494A>G (p.Asn1832Asp) c.5218A>G (p.Asn1740Asp) | gnomAD v4 |
9 | g.115046590T>G | CA374631182 | TNC | c.318-4249A>C c.3215-4249A>C (n.3215-4249A>C) c.3856A>C (p.Asn1286His) c.1888A>C (p.Asn630His) c.544A>C (p.Asn182His) c.3903A>C c.4945A>C (p.Asn1649His) c.4399A>C (p.Asn1467His) c.4307-4249A>C (n.4307-4249A>C) n.263A>C n.253-4249A>C n.40-4249A>C c.632A>C c.4672A>C (p.Asn1558His) c.4034-4249A>C (n.4034-4249A>C) c.3307A>C (p.Asn1103His) c.5221A>C (p.Asn1741His) c.3488-4249A>C (n.3488-4249A>C) c.4948A>C (p.Asn1650His) c.4402A>C (p.Asn1468His) c.4580-4249A>C (n.4580-4249A>C) c.4129A>C (p.Asn1377His) c.3761-4249A>C (n.3761-4249A>C) c.3580A>C (p.Asn1194His) c.5494A>C (p.Asn1832His) c.5218A>C (p.Asn1740His) | |
9 | g.115046591G>A | CA5207783 | TNC | c.318-4250C>T c.3215-4250C>T (n.3215-4250C>T) c.3855C>T (p.Asp1285=) c.1887C>T (p.Asp629=) c.543C>T (p.Asp181=) c.3902C>T c.4944C>T (p.Asp1648=) c.4398C>T (p.Asp1466=) c.4307-4250C>T (n.4307-4250C>T) n.262C>T n.253-4250C>T n.40-4250C>T c.631C>T c.4671C>T (p.Asp1557=) c.4034-4250C>T (n.4034-4250C>T) c.3306C>T (p.Asp1102=) c.5220C>T (p.Asp1740=) c.3488-4250C>T (n.3488-4250C>T) c.4947C>T (p.Asp1649=) c.4401C>T (p.Asp1467=) c.4580-4250C>T (n.4580-4250C>T) c.4128C>T (p.Asp1376=) c.3761-4250C>T (n.3761-4250C>T) c.3579C>T (p.Asp1193=) c.5493C>T (p.Asp1831=) c.5217C>T (p.Asp1739=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.115046591G>C | CA374631186 | TNC | c.318-4250C>G c.3215-4250C>G (n.3215-4250C>G) c.3855C>G (p.Asp1285Glu) c.1887C>G (p.Asp629Glu) c.543C>G (p.Asp181Glu) c.3902C>G c.4944C>G (p.Asp1648Glu) c.4398C>G (p.Asp1466Glu) c.4307-4250C>G (n.4307-4250C>G) n.262C>G n.253-4250C>G n.40-4250C>G c.631C>G c.4671C>G (p.Asp1557Glu) c.4034-4250C>G (n.4034-4250C>G) c.3306C>G (p.Asp1102Glu) c.5220C>G (p.Asp1740Glu) c.3488-4250C>G (n.3488-4250C>G) c.4947C>G (p.Asp1649Glu) c.4401C>G (p.Asp1467Glu) c.4580-4250C>G (n.4580-4250C>G) c.4128C>G (p.Asp1376Glu) c.3761-4250C>G (n.3761-4250C>G) c.3579C>G (p.Asp1193Glu) c.5493C>G (p.Asp1831Glu) c.5217C>G (p.Asp1739Glu) | |
9 | g.115046591G= | CA1874118926 | TNC | c.318-4250C= c.3215-4250C= (n.3215-4250C=) c.3855C= (p.Asp1285=) c.1887C= (p.Asp629=) c.543C= (p.Asp181=) c.3902C= c.4944C= (p.Asp1648=) c.4398C= (p.Asp1466=) c.4307-4250C= (n.4307-4250C=) n.262C= n.253-4250C= n.40-4250C= c.631C= c.4671C= (p.Asp1557=) c.4034-4250C= (n.4034-4250C=) c.3306C= (p.Asp1102=) c.5220C= (p.Asp1740=) c.3488-4250C= (n.3488-4250C=) c.4947C= (p.Asp1649=) c.4401C= (p.Asp1467=) c.4580-4250C= (n.4580-4250C=) c.4128C= (p.Asp1376=) c.3761-4250C= (n.3761-4250C=) c.3579C= (p.Asp1193=) c.5493C= (p.Asp1831=) c.5217C= (p.Asp1739=) | |
9 | g.115046591G>T | CA374631184 | TNC | c.318-4250C>A c.3215-4250C>A (n.3215-4250C>A) c.3855C>A (p.Asp1285Glu) c.1887C>A (p.Asp629Glu) c.543C>A (p.Asp181Glu) c.3902C>A c.4944C>A (p.Asp1648Glu) c.4398C>A (p.Asp1466Glu) c.4307-4250C>A (n.4307-4250C>A) n.262C>A n.253-4250C>A n.40-4250C>A c.631C>A c.4671C>A (p.Asp1557Glu) c.4034-4250C>A (n.4034-4250C>A) c.3306C>A (p.Asp1102Glu) c.5220C>A (p.Asp1740Glu) c.3488-4250C>A (n.3488-4250C>A) c.4947C>A (p.Asp1649Glu) c.4401C>A (p.Asp1467Glu) c.4580-4250C>A (n.4580-4250C>A) c.4128C>A (p.Asp1376Glu) c.3761-4250C>A (n.3761-4250C>A) c.3579C>A (p.Asp1193Glu) c.5493C>A (p.Asp1831Glu) c.5217C>A (p.Asp1739Glu) | gnomAD v4 |
9 | g.115046592T>A | CA5207784 | TNC | c.318-4251A>T c.3215-4251A>T (n.3215-4251A>T) c.3854A>T (p.Asp1285Val) c.1886A>T (p.Asp629Val) c.542A>T (p.Asp181Val) c.3901A>T c.4943A>T (p.Asp1648Val) c.4397A>T (p.Asp1466Val) c.4307-4251A>T (n.4307-4251A>T) n.261A>T n.253-4251A>T n.40-4251A>T c.630A>T c.4670A>T (p.Asp1557Val) c.4034-4251A>T (n.4034-4251A>T) c.3305A>T (p.Asp1102Val) c.5219A>T (p.Asp1740Val) c.3488-4251A>T (n.3488-4251A>T) c.4946A>T (p.Asp1649Val) c.4400A>T (p.Asp1467Val) c.4580-4251A>T (n.4580-4251A>T) c.4127A>T (p.Asp1376Val) c.3761-4251A>T (n.3761-4251A>T) c.3578A>T (p.Asp1193Val) c.5492A>T (p.Asp1831Val) c.5216A>T (p.Asp1739Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.115046592T>C | CA374631188 | TNC | c.318-4251A>G c.3215-4251A>G (n.3215-4251A>G) c.3854A>G (p.Asp1285Gly) c.1886A>G (p.Asp629Gly) c.542A>G (p.Asp181Gly) c.3901A>G c.4943A>G (p.Asp1648Gly) c.4397A>G (p.Asp1466Gly) c.4307-4251A>G (n.4307-4251A>G) n.261A>G n.253-4251A>G n.40-4251A>G c.630A>G c.4670A>G (p.Asp1557Gly) c.4034-4251A>G (n.4034-4251A>G) c.3305A>G (p.Asp1102Gly) c.5219A>G (p.Asp1740Gly) c.3488-4251A>G (n.3488-4251A>G) c.4946A>G (p.Asp1649Gly) c.4400A>G (p.Asp1467Gly) c.4580-4251A>G (n.4580-4251A>G) c.4127A>G (p.Asp1376Gly) c.3761-4251A>G (n.3761-4251A>G) c.3578A>G (p.Asp1193Gly) c.5492A>G (p.Asp1831Gly) c.5216A>G (p.Asp1739Gly) | dbSNP gnomAD v4 |
9 | g.115046592T>G | CA374631190 | TNC | c.318-4251A>C c.3215-4251A>C (n.3215-4251A>C) c.3854A>C (p.Asp1285Ala) c.1886A>C (p.Asp629Ala) c.542A>C (p.Asp181Ala) c.3901A>C c.4943A>C (p.Asp1648Ala) c.4397A>C (p.Asp1466Ala) c.4307-4251A>C (n.4307-4251A>C) n.261A>C n.253-4251A>C n.40-4251A>C c.630A>C c.4670A>C (p.Asp1557Ala) c.4034-4251A>C (n.4034-4251A>C) c.3305A>C (p.Asp1102Ala) c.5219A>C (p.Asp1740Ala) c.3488-4251A>C (n.3488-4251A>C) c.4946A>C (p.Asp1649Ala) c.4400A>C (p.Asp1467Ala) c.4580-4251A>C (n.4580-4251A>C) c.4127A>C (p.Asp1376Ala) c.3761-4251A>C (n.3761-4251A>C) c.3578A>C (p.Asp1193Ala) c.5492A>C (p.Asp1831Ala) c.5216A>C (p.Asp1739Ala) | |
9 | g.115046592T= | CA1874118927 | TNC | c.318-4251A= c.3215-4251A= (n.3215-4251A=) c.3854A= (p.Asp1285=) c.1886A= (p.Asp629=) c.542A= (p.Asp181=) c.3901A= c.4943A= (p.Asp1648=) c.4397A= (p.Asp1466=) c.4307-4251A= (n.4307-4251A=) n.261A= n.253-4251A= n.40-4251A= c.630A= c.4670A= (p.Asp1557=) c.4034-4251A= (n.4034-4251A=) c.3305A= (p.Asp1102=) c.5219A= (p.Asp1740=) c.3488-4251A= (n.3488-4251A=) c.4946A= (p.Asp1649=) c.4400A= (p.Asp1467=) c.4580-4251A= (n.4580-4251A=) c.4127A= (p.Asp1376=) c.3761-4251A= (n.3761-4251A=) c.3578A= (p.Asp1193=) c.5492A= (p.Asp1831=) c.5216A= (p.Asp1739=) | |
9 | g.115046593C>A | CA374631192 | TNC | c.318-4252G>T c.3215-4252G>T (n.3215-4252G>T) c.3853G>T (p.Asp1285Tyr) c.1885G>T (p.Asp629Tyr) c.541G>T (p.Asp181Tyr) c.3900G>T c.4942G>T (p.Asp1648Tyr) c.4396G>T (p.Asp1466Tyr) c.4307-4252G>T (n.4307-4252G>T) n.260G>T n.253-4252G>T n.40-4252G>T c.629G>T c.4669G>T (p.Asp1557Tyr) c.4034-4252G>T (n.4034-4252G>T) c.3304G>T (p.Asp1102Tyr) c.5218G>T (p.Asp1740Tyr) c.3488-4252G>T (n.3488-4252G>T) c.4945G>T (p.Asp1649Tyr) c.4399G>T (p.Asp1467Tyr) c.4580-4252G>T (n.4580-4252G>T) c.4126G>T (p.Asp1376Tyr) c.3761-4252G>T (n.3761-4252G>T) c.3577G>T (p.Asp1193Tyr) c.5491G>T (p.Asp1831Tyr) c.5215G>T (p.Asp1739Tyr) | |
9 | g.115046593C= | CA1874118929 | TNC | c.318-4252G= c.3215-4252G= (n.3215-4252G=) c.3853G= (p.Asp1285=) c.1885G= (p.Asp629=) c.541G= (p.Asp181=) c.3900G= c.4942G= (p.Asp1648=) c.4396G= (p.Asp1466=) c.4307-4252G= (n.4307-4252G=) n.260G= n.253-4252G= n.40-4252G= c.629G= c.4669G= (p.Asp1557=) c.4034-4252G= (n.4034-4252G=) c.3304G= (p.Asp1102=) c.5218G= (p.Asp1740=) c.3488-4252G= (n.3488-4252G=) c.4945G= (p.Asp1649=) c.4399G= (p.Asp1467=) c.4580-4252G= (n.4580-4252G=) c.4126G= (p.Asp1376=) c.3761-4252G= (n.3761-4252G=) c.3577G= (p.Asp1193=) c.5491G= (p.Asp1831=) c.5215G= (p.Asp1739=) | |
9 | g.115046593C>G | CA374631194 | TNC | c.318-4252G>C c.3215-4252G>C (n.3215-4252G>C) c.3853G>C (p.Asp1285His) c.1885G>C (p.Asp629His) c.541G>C (p.Asp181His) c.3900G>C c.4942G>C (p.Asp1648His) c.4396G>C (p.Asp1466His) c.4307-4252G>C (n.4307-4252G>C) n.260G>C n.253-4252G>C n.40-4252G>C c.629G>C c.4669G>C (p.Asp1557His) c.4034-4252G>C (n.4034-4252G>C) c.3304G>C (p.Asp1102His) c.5218G>C (p.Asp1740His) c.3488-4252G>C (n.3488-4252G>C) c.4945G>C (p.Asp1649His) c.4399G>C (p.Asp1467His) c.4580-4252G>C (n.4580-4252G>C) c.4126G>C (p.Asp1376His) c.3761-4252G>C (n.3761-4252G>C) c.3577G>C (p.Asp1193His) c.5491G>C (p.Asp1831His) c.5215G>C (p.Asp1739His) | |
9 | g.115046593C>T | CA374631195 | TNC | c.318-4252G>A c.3215-4252G>A (n.3215-4252G>A) c.3853G>A (p.Asp1285Asn) c.1885G>A (p.Asp629Asn) c.541G>A (p.Asp181Asn) c.3900G>A c.4942G>A (p.Asp1648Asn) c.4396G>A (p.Asp1466Asn) c.4307-4252G>A (n.4307-4252G>A) n.260G>A n.253-4252G>A n.40-4252G>A c.629G>A c.4669G>A (p.Asp1557Asn) c.4034-4252G>A (n.4034-4252G>A) c.3304G>A (p.Asp1102Asn) c.5218G>A (p.Asp1740Asn) c.3488-4252G>A (n.3488-4252G>A) c.4945G>A (p.Asp1649Asn) c.4399G>A (p.Asp1467Asn) c.4580-4252G>A (n.4580-4252G>A) c.4126G>A (p.Asp1376Asn) c.3761-4252G>A (n.3761-4252G>A) c.3577G>A (p.Asp1193Asn) c.5491G>A (p.Asp1831Asn) c.5215G>A (p.Asp1739Asn) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
9 | g.115046593_115046594delinsCG | CA1874118928 | TNC | c.318-4253_318-4252delinsCG c.3215-4253_3215-4252delinsCG (n.3215-4253_3215-4252delinsCG) c.3852_3853delinsCG (p.Phe1284=) c.1884_1885delinsCG (p.Phe628=) c.540_541delinsCG (p.Phe180=) c.3899_3900delinsCG c.4941_4942delinsCG (p.Phe1647=) c.4395_4396delinsCG (p.Phe1465=) c.4307-4253_4307-4252delinsCG (n.4307-4253_4307-4252delinsCG) n.259_260delinsCG n.253-4253_253-4252delinsCG n.40-4253_40-4252delinsCG c.628_629delinsCG c.4668_4669delinsCG (p.Phe1556=) c.4034-4253_4034-4252delinsCG (n.4034-4253_4034-4252delinsCG) c.3303_3304delinsCG (p.Phe1101=) c.5217_5218delinsCG (p.Phe1739=) c.3488-4253_3488-4252delinsCG (n.3488-4253_3488-4252delinsCG) c.4944_4945delinsCG (p.Phe1648=) c.4398_4399delinsCG (p.Phe1466=) c.4580-4253_4580-4252delinsCG (n.4580-4253_4580-4252delinsCG) c.4125_4126delinsCG (p.Phe1375=) c.3761-4253_3761-4252delinsCG (n.3761-4253_3761-4252delinsCG) c.3576_3577delinsCG (p.Phe1192=) c.5490_5491delinsCG (p.Phe1830=) c.5214_5215delinsCG (p.Phe1738=) | |
9 | g.115046594del | CA918540850 | TNC | c.318-4253del c.3215-4253del (n.3215-4253del) c.3852del (p.Phe1284LeufsTer20) c.1884del (p.Phe628LeufsTer20) c.540del (p.Phe180LeufsTer20) c.3899del c.4941del (p.Phe1647LeufsTer20) c.4395del (p.Phe1465LeufsTer20) c.4307-4253del (n.4307-4253del) n.259del n.253-4253del n.40-4253del c.628del c.4668del (p.Phe1556LeufsTer20) c.4034-4253del (n.4034-4253del) c.3303del (p.Phe1101LeufsTer20) c.5217del (p.Phe1739LeufsTer20) c.3488-4253del (n.3488-4253del) c.4944del (p.Phe1648LeufsTer20) c.4398del (p.Phe1466LeufsTer20) c.4580-4253del (n.4580-4253del) c.4125del (p.Phe1375LeufsTer20) c.3761-4253del (n.3761-4253del) c.3576del (p.Phe1192LeufsTer20) c.5490del (p.Phe1830LeufsTer20) c.5214del (p.Phe1738LeufsTer20) | dbSNP |
9 | g.115046594G>A | CA5207785 | TNC | c.318-4253C>T c.3215-4253C>T (n.3215-4253C>T) c.3852C>T (p.Phe1284=) c.1884C>T (p.Phe628=) c.540C>T (p.Phe180=) c.3899C>T c.4941C>T (p.Phe1647=) c.4395C>T (p.Phe1465=) c.4307-4253C>T (n.4307-4253C>T) n.259C>T n.253-4253C>T n.40-4253C>T c.628C>T c.4668C>T (p.Phe1556=) c.4034-4253C>T (n.4034-4253C>T) c.3303C>T (p.Phe1101=) c.5217C>T (p.Phe1739=) c.3488-4253C>T (n.3488-4253C>T) c.4944C>T (p.Phe1648=) c.4398C>T (p.Phe1466=) c.4580-4253C>T (n.4580-4253C>T) c.4125C>T (p.Phe1375=) c.3761-4253C>T (n.3761-4253C>T) c.3576C>T (p.Phe1192=) c.5490C>T (p.Phe1830=) c.5214C>T (p.Phe1738=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.115046594G>C | CA374631198 | TNC | c.318-4253C>G c.3215-4253C>G (n.3215-4253C>G) c.3852C>G (p.Phe1284Leu) c.1884C>G (p.Phe628Leu) c.540C>G (p.Phe180Leu) c.3899C>G c.4941C>G (p.Phe1647Leu) c.4395C>G (p.Phe1465Leu) c.4307-4253C>G (n.4307-4253C>G) n.259C>G n.253-4253C>G n.40-4253C>G c.628C>G c.4668C>G (p.Phe1556Leu) c.4034-4253C>G (n.4034-4253C>G) c.3303C>G (p.Phe1101Leu) c.5217C>G (p.Phe1739Leu) c.3488-4253C>G (n.3488-4253C>G) c.4944C>G (p.Phe1648Leu) c.4398C>G (p.Phe1466Leu) c.4580-4253C>G (n.4580-4253C>G) c.4125C>G (p.Phe1375Leu) c.3761-4253C>G (n.3761-4253C>G) c.3576C>G (p.Phe1192Leu) c.5490C>G (p.Phe1830Leu) c.5214C>G (p.Phe1738Leu) | |
9 | g.115046594G= | CA1874118930 | TNC | c.318-4253C= c.3215-4253C= (n.3215-4253C=) c.3852C= (p.Phe1284=) c.1884C= (p.Phe628=) c.540C= (p.Phe180=) c.3899C= c.4941C= (p.Phe1647=) c.4395C= (p.Phe1465=) c.4307-4253C= (n.4307-4253C=) n.259C= n.253-4253C= n.40-4253C= c.628C= c.4668C= (p.Phe1556=) c.4034-4253C= (n.4034-4253C=) c.3303C= (p.Phe1101=) c.5217C= (p.Phe1739=) c.3488-4253C= (n.3488-4253C=) c.4944C= (p.Phe1648=) c.4398C= (p.Phe1466=) c.4580-4253C= (n.4580-4253C=) c.4125C= (p.Phe1375=) c.3761-4253C= (n.3761-4253C=) c.3576C= (p.Phe1192=) c.5490C= (p.Phe1830=) c.5214C= (p.Phe1738=) | |
9 | g.115046594G>T | CA374631199 | TNC | c.318-4253C>A c.3215-4253C>A (n.3215-4253C>A) c.3852C>A (p.Phe1284Leu) c.1884C>A (p.Phe628Leu) c.540C>A (p.Phe180Leu) c.3899C>A c.4941C>A (p.Phe1647Leu) c.4395C>A (p.Phe1465Leu) c.4307-4253C>A (n.4307-4253C>A) n.259C>A n.253-4253C>A n.40-4253C>A c.628C>A c.4668C>A (p.Phe1556Leu) c.4034-4253C>A (n.4034-4253C>A) c.3303C>A (p.Phe1101Leu) c.5217C>A (p.Phe1739Leu) c.3488-4253C>A (n.3488-4253C>A) c.4944C>A (p.Phe1648Leu) c.4398C>A (p.Phe1466Leu) c.4580-4253C>A (n.4580-4253C>A) c.4125C>A (p.Phe1375Leu) c.3761-4253C>A (n.3761-4253C>A) c.3576C>A (p.Phe1192Leu) c.5490C>A (p.Phe1830Leu) c.5214C>A (p.Phe1738Leu) | |
9 | g.115046595A>C | CA374631201 | TNC | c.318-4254T>G c.3215-4254T>G (n.3215-4254T>G) c.3851T>G (p.Phe1284Cys) c.1883T>G (p.Phe628Cys) c.539T>G (p.Phe180Cys) c.3898T>G c.4940T>G (p.Phe1647Cys) c.4394T>G (p.Phe1465Cys) c.4307-4254T>G (n.4307-4254T>G) n.258T>G n.253-4254T>G n.40-4254T>G c.627T>G c.4667T>G (p.Phe1556Cys) c.4034-4254T>G (n.4034-4254T>G) c.3302T>G (p.Phe1101Cys) c.5216T>G (p.Phe1739Cys) c.3488-4254T>G (n.3488-4254T>G) c.4943T>G (p.Phe1648Cys) c.4397T>G (p.Phe1466Cys) c.4580-4254T>G (n.4580-4254T>G) c.4124T>G (p.Phe1375Cys) c.3761-4254T>G (n.3761-4254T>G) c.3575T>G (p.Phe1192Cys) c.5489T>G (p.Phe1830Cys) c.5213T>G (p.Phe1738Cys) | |
9 | g.115046595A>G | CA374631203 | TNC | c.318-4254T>C c.3215-4254T>C (n.3215-4254T>C) c.3851T>C (p.Phe1284Ser) c.1883T>C (p.Phe628Ser) c.539T>C (p.Phe180Ser) c.3898T>C c.4940T>C (p.Phe1647Ser) c.4394T>C (p.Phe1465Ser) c.4307-4254T>C (n.4307-4254T>C) n.258T>C n.253-4254T>C n.40-4254T>C c.627T>C c.4667T>C (p.Phe1556Ser) c.4034-4254T>C (n.4034-4254T>C) c.3302T>C (p.Phe1101Ser) c.5216T>C (p.Phe1739Ser) c.3488-4254T>C (n.3488-4254T>C) c.4943T>C (p.Phe1648Ser) c.4397T>C (p.Phe1466Ser) c.4580-4254T>C (n.4580-4254T>C) c.4124T>C (p.Phe1375Ser) c.3761-4254T>C (n.3761-4254T>C) c.3575T>C (p.Phe1192Ser) c.5489T>C (p.Phe1830Ser) c.5213T>C (p.Phe1738Ser) | |
9 | g.115046595A>T | CA374631205 | TNC | c.318-4254T>A c.3215-4254T>A (n.3215-4254T>A) c.3851T>A (p.Phe1284Tyr) c.1883T>A (p.Phe628Tyr) c.539T>A (p.Phe180Tyr) c.3898T>A c.4940T>A (p.Phe1647Tyr) c.4394T>A (p.Phe1465Tyr) c.4307-4254T>A (n.4307-4254T>A) n.258T>A n.253-4254T>A n.40-4254T>A c.627T>A c.4667T>A (p.Phe1556Tyr) c.4034-4254T>A (n.4034-4254T>A) c.3302T>A (p.Phe1101Tyr) c.5216T>A (p.Phe1739Tyr) c.3488-4254T>A (n.3488-4254T>A) c.4943T>A (p.Phe1648Tyr) c.4397T>A (p.Phe1466Tyr) c.4580-4254T>A (n.4580-4254T>A) c.4124T>A (p.Phe1375Tyr) c.3761-4254T>A (n.3761-4254T>A) c.3575T>A (p.Phe1192Tyr) c.5489T>A (p.Phe1830Tyr) c.5213T>A (p.Phe1738Tyr) | |
9 | g.115046596A= | CA1874118931 | TNC | c.318-4255T= c.3215-4255T= (n.3215-4255T=) c.3850T= (p.Phe1284=) c.1882T= (p.Phe628=) c.538T= (p.Phe180=) c.3897T= c.4939T= (p.Phe1647=) c.4393T= (p.Phe1465=) c.4307-4255T= (n.4307-4255T=) n.257T= n.253-4255T= n.40-4255T= c.626T= c.4666T= (p.Phe1556=) c.4034-4255T= (n.4034-4255T=) c.3301T= (p.Phe1101=) c.5215T= (p.Phe1739=) c.3488-4255T= (n.3488-4255T=) c.4942T= (p.Phe1648=) c.4396T= (p.Phe1466=) c.4580-4255T= (n.4580-4255T=) c.4123T= (p.Phe1375=) c.3761-4255T= (n.3761-4255T=) c.3574T= (p.Phe1192=) c.5488T= (p.Phe1830=) c.5212T= (p.Phe1738=) | |
9 | g.115046596A>C | CA374631206 | TNC | c.318-4255T>G c.3215-4255T>G (n.3215-4255T>G) c.3850T>G (p.Phe1284Val) c.1882T>G (p.Phe628Val) c.538T>G (p.Phe180Val) c.3897T>G c.4939T>G (p.Phe1647Val) c.4393T>G (p.Phe1465Val) c.4307-4255T>G (n.4307-4255T>G) n.257T>G n.253-4255T>G n.40-4255T>G c.626T>G c.4666T>G (p.Phe1556Val) c.4034-4255T>G (n.4034-4255T>G) c.3301T>G (p.Phe1101Val) c.5215T>G (p.Phe1739Val) c.3488-4255T>G (n.3488-4255T>G) c.4942T>G (p.Phe1648Val) c.4396T>G (p.Phe1466Val) c.4580-4255T>G (n.4580-4255T>G) c.4123T>G (p.Phe1375Val) c.3761-4255T>G (n.3761-4255T>G) c.3574T>G (p.Phe1192Val) c.5488T>G (p.Phe1830Val) c.5212T>G (p.Phe1738Val) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.115046596A>G | CA374631210 | TNC | c.318-4255T>C c.3215-4255T>C (n.3215-4255T>C) c.3850T>C (p.Phe1284Leu) c.1882T>C (p.Phe628Leu) c.538T>C (p.Phe180Leu) c.3897T>C c.4939T>C (p.Phe1647Leu) c.4393T>C (p.Phe1465Leu) c.4307-4255T>C (n.4307-4255T>C) n.257T>C n.253-4255T>C n.40-4255T>C c.626T>C c.4666T>C (p.Phe1556Leu) c.4034-4255T>C (n.4034-4255T>C) c.3301T>C (p.Phe1101Leu) c.5215T>C (p.Phe1739Leu) c.3488-4255T>C (n.3488-4255T>C) c.4942T>C (p.Phe1648Leu) c.4396T>C (p.Phe1466Leu) c.4580-4255T>C (n.4580-4255T>C) c.4123T>C (p.Phe1375Leu) c.3761-4255T>C (n.3761-4255T>C) c.3574T>C (p.Phe1192Leu) c.5488T>C (p.Phe1830Leu) c.5212T>C (p.Phe1738Leu) | dbSNP |
9 | g.115046596A>T | CA374631208 | TNC | c.318-4255T>A c.3215-4255T>A (n.3215-4255T>A) c.3850T>A (p.Phe1284Ile) c.1882T>A (p.Phe628Ile) c.538T>A (p.Phe180Ile) c.3897T>A c.4939T>A (p.Phe1647Ile) c.4393T>A (p.Phe1465Ile) c.4307-4255T>A (n.4307-4255T>A) n.257T>A n.253-4255T>A n.40-4255T>A c.626T>A c.4666T>A (p.Phe1556Ile) c.4034-4255T>A (n.4034-4255T>A) c.3301T>A (p.Phe1101Ile) c.5215T>A (p.Phe1739Ile) c.3488-4255T>A (n.3488-4255T>A) c.4942T>A (p.Phe1648Ile) c.4396T>A (p.Phe1466Ile) c.4580-4255T>A (n.4580-4255T>A) c.4123T>A (p.Phe1375Ile) c.3761-4255T>A (n.3761-4255T>A) c.3574T>A (p.Phe1192Ile) c.5488T>A (p.Phe1830Ile) c.5212T>A (p.Phe1738Ile) | |
9 | g.115046597G>A | CA466912512 | TNC | c.318-4256C>T c.3215-4256C>T (n.3215-4256C>T) c.3849C>T (p.Val1283=) c.1881C>T (p.Val627=) c.537C>T (p.Val179=) c.3896C>T c.4938C>T (p.Val1646=) c.4392C>T (p.Val1464=) c.4307-4256C>T (n.4307-4256C>T) n.256C>T n.253-4256C>T n.40-4256C>T c.625C>T c.4665C>T (p.Val1555=) c.4034-4256C>T (n.4034-4256C>T) c.3300C>T (p.Val1100=) c.5214C>T (p.Val1738=) c.3488-4256C>T (n.3488-4256C>T) c.4941C>T (p.Val1647=) c.4395C>T (p.Val1465=) c.4580-4256C>T (n.4580-4256C>T) c.4122C>T (p.Val1374=) c.3761-4256C>T (n.3761-4256C>T) c.3573C>T (p.Val1191=) c.5487C>T (p.Val1829=) c.5211C>T (p.Val1737=) | |
9 | g.115046597G>C | CA466912514 | TNC | c.318-4256C>G c.3215-4256C>G (n.3215-4256C>G) c.3849C>G (p.Val1283=) c.1881C>G (p.Val627=) c.537C>G (p.Val179=) c.3896C>G c.4938C>G (p.Val1646=) c.4392C>G (p.Val1464=) c.4307-4256C>G (n.4307-4256C>G) n.256C>G n.253-4256C>G n.40-4256C>G c.625C>G c.4665C>G (p.Val1555=) c.4034-4256C>G (n.4034-4256C>G) c.3300C>G (p.Val1100=) c.5214C>G (p.Val1738=) c.3488-4256C>G (n.3488-4256C>G) c.4941C>G (p.Val1647=) c.4395C>G (p.Val1465=) c.4580-4256C>G (n.4580-4256C>G) c.4122C>G (p.Val1374=) c.3761-4256C>G (n.3761-4256C>G) c.3573C>G (p.Val1191=) c.5487C>G (p.Val1829=) c.5211C>G (p.Val1737=) | |
9 | g.115046597G= | CA1874118932 | TNC | c.318-4256C= c.3215-4256C= (n.3215-4256C=) c.3849C= (p.Val1283=) c.1881C= (p.Val627=) c.537C= (p.Val179=) c.3896C= c.4938C= (p.Val1646=) c.4392C= (p.Val1464=) c.4307-4256C= (n.4307-4256C=) n.256C= n.253-4256C= n.40-4256C= c.625C= c.4665C= (p.Val1555=) c.4034-4256C= (n.4034-4256C=) c.3300C= (p.Val1100=) c.5214C= (p.Val1738=) c.3488-4256C= (n.3488-4256C=) c.4941C= (p.Val1647=) c.4395C= (p.Val1465=) c.4580-4256C= (n.4580-4256C=) c.4122C= (p.Val1374=) c.3761-4256C= (n.3761-4256C=) c.3573C= (p.Val1191=) c.5487C= (p.Val1829=) c.5211C= (p.Val1737=) | |
9 | g.115046597G>T | CA466912513 | TNC | c.318-4256C>A c.3215-4256C>A (n.3215-4256C>A) c.3849C>A (p.Val1283=) c.1881C>A (p.Val627=) c.537C>A (p.Val179=) c.3896C>A c.4938C>A (p.Val1646=) c.4392C>A (p.Val1464=) c.4307-4256C>A (n.4307-4256C>A) n.256C>A n.253-4256C>A n.40-4256C>A c.625C>A c.4665C>A (p.Val1555=) c.4034-4256C>A (n.4034-4256C>A) c.3300C>A (p.Val1100=) c.5214C>A (p.Val1738=) c.3488-4256C>A (n.3488-4256C>A) c.4941C>A (p.Val1647=) c.4395C>A (p.Val1465=) c.4580-4256C>A (n.4580-4256C>A) c.4122C>A (p.Val1374=) c.3761-4256C>A (n.3761-4256C>A) c.3573C>A (p.Val1191=) c.5487C>A (p.Val1829=) c.5211C>A (p.Val1737=) | dbSNP |
9 | g.115046598A>C | CA374631212 | TNC | c.318-4257T>G c.3215-4257T>G (n.3215-4257T>G) c.3848T>G (p.Val1283Gly) c.1880T>G (p.Val627Gly) c.536T>G (p.Val179Gly) c.3895T>G c.4937T>G (p.Val1646Gly) c.4391T>G (p.Val1464Gly) c.4307-4257T>G (n.4307-4257T>G) n.255T>G n.253-4257T>G n.40-4257T>G c.624T>G c.4664T>G (p.Val1555Gly) c.4034-4257T>G (n.4034-4257T>G) c.3299T>G (p.Val1100Gly) c.5213T>G (p.Val1738Gly) c.3488-4257T>G (n.3488-4257T>G) c.4940T>G (p.Val1647Gly) c.4394T>G (p.Val1465Gly) c.4580-4257T>G (n.4580-4257T>G) c.4121T>G (p.Val1374Gly) c.3761-4257T>G (n.3761-4257T>G) c.3572T>G (p.Val1191Gly) c.5486T>G (p.Val1829Gly) c.5210T>G (p.Val1737Gly) | |
9 | g.115046598A>G | CA374631215 | TNC | c.318-4257T>C c.3215-4257T>C (n.3215-4257T>C) c.3848T>C (p.Val1283Ala) c.1880T>C (p.Val627Ala) c.536T>C (p.Val179Ala) c.3895T>C c.4937T>C (p.Val1646Ala) c.4391T>C (p.Val1464Ala) c.4307-4257T>C (n.4307-4257T>C) n.255T>C n.253-4257T>C n.40-4257T>C c.624T>C c.4664T>C (p.Val1555Ala) c.4034-4257T>C (n.4034-4257T>C) c.3299T>C (p.Val1100Ala) c.5213T>C (p.Val1738Ala) c.3488-4257T>C (n.3488-4257T>C) c.4940T>C (p.Val1647Ala) c.4394T>C (p.Val1465Ala) c.4580-4257T>C (n.4580-4257T>C) c.4121T>C (p.Val1374Ala) c.3761-4257T>C (n.3761-4257T>C) c.3572T>C (p.Val1191Ala) c.5486T>C (p.Val1829Ala) c.5210T>C (p.Val1737Ala) | |
9 | g.115046598A>T | CA374631213 | TNC | c.318-4257T>A c.3215-4257T>A (n.3215-4257T>A) c.3848T>A (p.Val1283Asp) c.1880T>A (p.Val627Asp) c.536T>A (p.Val179Asp) c.3895T>A c.4937T>A (p.Val1646Asp) c.4391T>A (p.Val1464Asp) c.4307-4257T>A (n.4307-4257T>A) n.255T>A n.253-4257T>A n.40-4257T>A c.624T>A c.4664T>A (p.Val1555Asp) c.4034-4257T>A (n.4034-4257T>A) c.3299T>A (p.Val1100Asp) c.5213T>A (p.Val1738Asp) c.3488-4257T>A (n.3488-4257T>A) c.4940T>A (p.Val1647Asp) c.4394T>A (p.Val1465Asp) c.4580-4257T>A (n.4580-4257T>A) c.4121T>A (p.Val1374Asp) c.3761-4257T>A (n.3761-4257T>A) c.3572T>A (p.Val1191Asp) c.5486T>A (p.Val1829Asp) c.5210T>A (p.Val1737Asp) | |
9 | g.115046599C>A | CA374631216 | TNC | c.318-4258G>T c.3215-4258G>T (n.3215-4258G>T) c.3847G>T (p.Val1283Phe) c.1879G>T (p.Val627Phe) c.535G>T (p.Val179Phe) c.3894G>T c.4936G>T (p.Val1646Phe) c.4390G>T (p.Val1464Phe) c.4307-4258G>T (n.4307-4258G>T) n.254G>T n.253-4258G>T n.40-4258G>T c.623G>T c.4663G>T (p.Val1555Phe) c.4034-4258G>T (n.4034-4258G>T) c.3298G>T (p.Val1100Phe) c.5212G>T (p.Val1738Phe) c.3488-4258G>T (n.3488-4258G>T) c.4939G>T (p.Val1647Phe) c.4393G>T (p.Val1465Phe) c.4580-4258G>T (n.4580-4258G>T) c.4120G>T (p.Val1374Phe) c.3761-4258G>T (n.3761-4258G>T) c.3571G>T (p.Val1191Phe) c.5485G>T (p.Val1829Phe) c.5209G>T (p.Val1737Phe) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.115046599C= | CA1874118933 | TNC | c.318-4258G= c.3215-4258G= (n.3215-4258G=) c.3847G= (p.Val1283=) c.1879G= (p.Val627=) c.535G= (p.Val179=) c.3894G= c.4936G= (p.Val1646=) c.4390G= (p.Val1464=) c.4307-4258G= (n.4307-4258G=) n.254G= n.253-4258G= n.40-4258G= c.623G= c.4663G= (p.Val1555=) c.4034-4258G= (n.4034-4258G=) c.3298G= (p.Val1100=) c.5212G= (p.Val1738=) c.3488-4258G= (n.3488-4258G=) c.4939G= (p.Val1647=) c.4393G= (p.Val1465=) c.4580-4258G= (n.4580-4258G=) c.4120G= (p.Val1374=) c.3761-4258G= (n.3761-4258G=) c.3571G= (p.Val1191=) c.5485G= (p.Val1829=) c.5209G= (p.Val1737=) | |
9 | g.115046599C>G | CA374631218 | TNC | c.318-4258G>C c.3215-4258G>C (n.3215-4258G>C) c.3847G>C (p.Val1283Leu) c.1879G>C (p.Val627Leu) c.535G>C (p.Val179Leu) c.3894G>C c.4936G>C (p.Val1646Leu) c.4390G>C (p.Val1464Leu) c.4307-4258G>C (n.4307-4258G>C) n.254G>C n.253-4258G>C n.40-4258G>C c.623G>C c.4663G>C (p.Val1555Leu) c.4034-4258G>C (n.4034-4258G>C) c.3298G>C (p.Val1100Leu) c.5212G>C (p.Val1738Leu) c.3488-4258G>C (n.3488-4258G>C) c.4939G>C (p.Val1647Leu) c.4393G>C (p.Val1465Leu) c.4580-4258G>C (n.4580-4258G>C) c.4120G>C (p.Val1374Leu) c.3761-4258G>C (n.3761-4258G>C) c.3571G>C (p.Val1191Leu) c.5485G>C (p.Val1829Leu) c.5209G>C (p.Val1737Leu) | |
9 | g.115046599C>T | CA374631219 | TNC | c.318-4258G>A c.3215-4258G>A (n.3215-4258G>A) c.3847G>A (p.Val1283Ile) c.1879G>A (p.Val627Ile) c.535G>A (p.Val179Ile) c.3894G>A c.4936G>A (p.Val1646Ile) c.4390G>A (p.Val1464Ile) c.4307-4258G>A (n.4307-4258G>A) n.254G>A n.253-4258G>A n.40-4258G>A c.623G>A c.4663G>A (p.Val1555Ile) c.4034-4258G>A (n.4034-4258G>A) c.3298G>A (p.Val1100Ile) c.5212G>A (p.Val1738Ile) c.3488-4258G>A (n.3488-4258G>A) c.4939G>A (p.Val1647Ile) c.4393G>A (p.Val1465Ile) c.4580-4258G>A (n.4580-4258G>A) c.4120G>A (p.Val1374Ile) c.3761-4258G>A (n.3761-4258G>A) c.3571G>A (p.Val1191Ile) c.5485G>A (p.Val1829Ile) c.5209G>A (p.Val1737Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.115046600C>A | CA466912517 | TNC | c.318-4259G>T c.3215-4259G>T (n.3215-4259G>T) c.3846G>T (p.Gly1282=) c.1878G>T (p.Gly626=) c.534G>T (p.Gly178=) c.3893G>T c.4935G>T (p.Gly1645=) c.4389G>T (p.Gly1463=) c.4307-4259G>T (n.4307-4259G>T) n.253G>T n.253-4259G>T n.40-4259G>T c.622G>T c.4662G>T (p.Gly1554=) c.4034-4259G>T (n.4034-4259G>T) c.3297G>T (p.Gly1099=) c.5211G>T (p.Gly1737=) c.3488-4259G>T (n.3488-4259G>T) c.4938G>T (p.Gly1646=) c.4392G>T (p.Gly1464=) c.4580-4259G>T (n.4580-4259G>T) c.4119G>T (p.Gly1373=) c.3761-4259G>T (n.3761-4259G>T) c.3570G>T (p.Gly1190=) c.5484G>T (p.Gly1828=) c.5208G>T (p.Gly1736=) | |
9 | g.115046600C= | CA1874118934 | TNC | c.318-4259G= c.3215-4259G= (n.3215-4259G=) c.3846G= (p.Gly1282=) c.1878G= (p.Gly626=) c.534G= (p.Gly178=) c.3893G= c.4935G= (p.Gly1645=) c.4389G= (p.Gly1463=) c.4307-4259G= (n.4307-4259G=) n.253G= n.253-4259G= n.40-4259G= c.622G= c.4662G= (p.Gly1554=) c.4034-4259G= (n.4034-4259G=) c.3297G= (p.Gly1099=) c.5211G= (p.Gly1737=) c.3488-4259G= (n.3488-4259G=) c.4938G= (p.Gly1646=) c.4392G= (p.Gly1464=) c.4580-4259G= (n.4580-4259G=) c.4119G= (p.Gly1373=) c.3761-4259G= (n.3761-4259G=) c.3570G= (p.Gly1190=) c.5484G= (p.Gly1828=) c.5208G= (p.Gly1736=) | |
9 | g.115046600C>G | CA466912518 | TNC | c.318-4259G>C c.3215-4259G>C (n.3215-4259G>C) c.3846G>C (p.Gly1282=) c.1878G>C (p.Gly626=) c.534G>C (p.Gly178=) c.3893G>C c.4935G>C (p.Gly1645=) c.4389G>C (p.Gly1463=) c.4307-4259G>C (n.4307-4259G>C) n.253G>C n.253-4259G>C n.40-4259G>C c.622G>C c.4662G>C (p.Gly1554=) c.4034-4259G>C (n.4034-4259G>C) c.3297G>C (p.Gly1099=) c.5211G>C (p.Gly1737=) c.3488-4259G>C (n.3488-4259G>C) c.4938G>C (p.Gly1646=) c.4392G>C (p.Gly1464=) c.4580-4259G>C (n.4580-4259G>C) c.4119G>C (p.Gly1373=) c.3761-4259G>C (n.3761-4259G>C) c.3570G>C (p.Gly1190=) c.5484G>C (p.Gly1828=) c.5208G>C (p.Gly1736=) | |
9 | g.115046600C>T | CA466912520 | TNC | c.318-4259G>A c.3215-4259G>A (n.3215-4259G>A) c.3846G>A (p.Gly1282=) c.1878G>A (p.Gly626=) c.534G>A (p.Gly178=) c.3893G>A c.4935G>A (p.Gly1645=) c.4389G>A (p.Gly1463=) c.4307-4259G>A (n.4307-4259G>A) n.253G>A n.253-4259G>A n.40-4259G>A c.622G>A c.4662G>A (p.Gly1554=) c.4034-4259G>A (n.4034-4259G>A) c.3297G>A (p.Gly1099=) c.5211G>A (p.Gly1737=) c.3488-4259G>A (n.3488-4259G>A) c.4938G>A (p.Gly1646=) c.4392G>A (p.Gly1464=) c.4580-4259G>A (n.4580-4259G>A) c.4119G>A (p.Gly1373=) c.3761-4259G>A (n.3761-4259G>A) c.3570G>A (p.Gly1190=) c.5484G>A (p.Gly1828=) c.5208G>A (p.Gly1736=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
9 | g.115046601C>A | CA374631220 | TNC | c.318-4260G>T c.3215-4260G>T (n.3215-4260G>T) c.3845G>T (p.Gly1282Val) c.1877G>T (p.Gly626Val) c.533G>T (p.Gly178Val) c.3892G>T c.4934G>T (p.Gly1645Val) c.4388G>T (p.Gly1463Val) c.4307-4260G>T (n.4307-4260G>T) n.252G>T n.253-4260G>T n.40-4260G>T c.621G>T c.4661G>T (p.Gly1554Val) c.4034-4260G>T (n.4034-4260G>T) c.3296G>T (p.Gly1099Val) c.5210G>T (p.Gly1737Val) c.3488-4260G>T (n.3488-4260G>T) c.4937G>T (p.Gly1646Val) c.4391G>T (p.Gly1464Val) c.4580-4260G>T (n.4580-4260G>T) c.4118G>T (p.Gly1373Val) c.3761-4260G>T (n.3761-4260G>T) c.3569G>T (p.Gly1190Val) c.5483G>T (p.Gly1828Val) c.5207G>T (p.Gly1736Val) | |
9 | g.115046601C= | CA1874118935 | TNC | c.318-4260G= c.3215-4260G= (n.3215-4260G=) c.3845G= (p.Gly1282=) c.1877G= (p.Gly626=) c.533G= (p.Gly178=) c.3892G= c.4934G= (p.Gly1645=) c.4388G= (p.Gly1463=) c.4307-4260G= (n.4307-4260G=) n.252G= n.253-4260G= n.40-4260G= c.621G= c.4661G= (p.Gly1554=) c.4034-4260G= (n.4034-4260G=) c.3296G= (p.Gly1099=) c.5210G= (p.Gly1737=) c.3488-4260G= (n.3488-4260G=) c.4937G= (p.Gly1646=) c.4391G= (p.Gly1464=) c.4580-4260G= (n.4580-4260G=) c.4118G= (p.Gly1373=) c.3761-4260G= (n.3761-4260G=) c.3569G= (p.Gly1190=) c.5483G= (p.Gly1828=) c.5207G= (p.Gly1736=) | |
9 | g.115046601C>G | CA374631221 | TNC | c.318-4260G>C c.3215-4260G>C (n.3215-4260G>C) c.3845G>C (p.Gly1282Ala) c.1877G>C (p.Gly626Ala) c.533G>C (p.Gly178Ala) c.3892G>C c.4934G>C (p.Gly1645Ala) c.4388G>C (p.Gly1463Ala) c.4307-4260G>C (n.4307-4260G>C) n.252G>C n.253-4260G>C n.40-4260G>C c.621G>C c.4661G>C (p.Gly1554Ala) c.4034-4260G>C (n.4034-4260G>C) c.3296G>C (p.Gly1099Ala) c.5210G>C (p.Gly1737Ala) c.3488-4260G>C (n.3488-4260G>C) c.4937G>C (p.Gly1646Ala) c.4391G>C (p.Gly1464Ala) c.4580-4260G>C (n.4580-4260G>C) c.4118G>C (p.Gly1373Ala) c.3761-4260G>C (n.3761-4260G>C) c.3569G>C (p.Gly1190Ala) c.5483G>C (p.Gly1828Ala) c.5207G>C (p.Gly1736Ala) | dbSNP |
9 | g.115046601C>T | CA374631222 | TNC | c.318-4260G>A c.3215-4260G>A (n.3215-4260G>A) c.3845G>A (p.Gly1282Glu) c.1877G>A (p.Gly626Glu) c.533G>A (p.Gly178Glu) c.3892G>A c.4934G>A (p.Gly1645Glu) c.4388G>A (p.Gly1463Glu) c.4307-4260G>A (n.4307-4260G>A) n.252G>A n.253-4260G>A n.40-4260G>A c.621G>A c.4661G>A (p.Gly1554Glu) c.4034-4260G>A (n.4034-4260G>A) c.3296G>A (p.Gly1099Glu) c.5210G>A (p.Gly1737Glu) c.3488-4260G>A (n.3488-4260G>A) c.4937G>A (p.Gly1646Glu) c.4391G>A (p.Gly1464Glu) c.4580-4260G>A (n.4580-4260G>A) c.4118G>A (p.Gly1373Glu) c.3761-4260G>A (n.3761-4260G>A) c.3569G>A (p.Gly1190Glu) c.5483G>A (p.Gly1828Glu) c.5207G>A (p.Gly1736Glu) | |
9 | g.115046602C>A | CA374631224 | TNC | c.318-4261G>T c.3215-4261G>T (n.3215-4261G>T) c.3844G>T (p.Gly1282Trp) c.1876G>T (p.Gly626Trp) c.532G>T (p.Gly178Trp) c.3891G>T c.4933G>T (p.Gly1645Trp) c.4387G>T (p.Gly1463Trp) c.4307-4261G>T (n.4307-4261G>T) n.251G>T n.253-4261G>T n.40-4261G>T c.620G>T c.4660G>T (p.Gly1554Trp) c.4034-4261G>T (n.4034-4261G>T) c.3295G>T (p.Gly1099Trp) c.5209G>T (p.Gly1737Trp) c.3488-4261G>T (n.3488-4261G>T) c.4936G>T (p.Gly1646Trp) c.4390G>T (p.Gly1464Trp) c.4580-4261G>T (n.4580-4261G>T) c.4117G>T (p.Gly1373Trp) c.3761-4261G>T (n.3761-4261G>T) c.3568G>T (p.Gly1190Trp) c.5482G>T (p.Gly1828Trp) c.5206G>T (p.Gly1736Trp) | COSMIC |
9 | g.115046602C= | CA1874118936 | TNC | c.318-4261G= c.3215-4261G= (n.3215-4261G=) c.3844G= (p.Gly1282=) c.1876G= (p.Gly626=) c.532G= (p.Gly178=) c.3891G= c.4933G= (p.Gly1645=) c.4387G= (p.Gly1463=) c.4307-4261G= (n.4307-4261G=) n.251G= n.253-4261G= n.40-4261G= c.620G= c.4660G= (p.Gly1554=) c.4034-4261G= (n.4034-4261G=) c.3295G= (p.Gly1099=) c.5209G= (p.Gly1737=) c.3488-4261G= (n.3488-4261G=) c.4936G= (p.Gly1646=) c.4390G= (p.Gly1464=) c.4580-4261G= (n.4580-4261G=) c.4117G= (p.Gly1373=) c.3761-4261G= (n.3761-4261G=) c.3568G= (p.Gly1190=) c.5482G= (p.Gly1828=) c.5206G= (p.Gly1736=) | |
9 | g.115046602C>G | CA374631225 | TNC | c.318-4261G>C c.3215-4261G>C (n.3215-4261G>C) c.3844G>C (p.Gly1282Arg) c.1876G>C (p.Gly626Arg) c.532G>C (p.Gly178Arg) c.3891G>C c.4933G>C (p.Gly1645Arg) c.4387G>C (p.Gly1463Arg) c.4307-4261G>C (n.4307-4261G>C) n.251G>C n.253-4261G>C n.40-4261G>C c.620G>C c.4660G>C (p.Gly1554Arg) c.4034-4261G>C (n.4034-4261G>C) c.3295G>C (p.Gly1099Arg) c.5209G>C (p.Gly1737Arg) c.3488-4261G>C (n.3488-4261G>C) c.4936G>C (p.Gly1646Arg) c.4390G>C (p.Gly1464Arg) c.4580-4261G>C (n.4580-4261G>C) c.4117G>C (p.Gly1373Arg) c.3761-4261G>C (n.3761-4261G>C) c.3568G>C (p.Gly1190Arg) c.5482G>C (p.Gly1828Arg) c.5206G>C (p.Gly1736Arg) | |
9 | g.115046602C>T | CA374631226 | TNC | c.318-4261G>A c.3215-4261G>A (n.3215-4261G>A) c.3844G>A (p.Gly1282Arg) c.1876G>A (p.Gly626Arg) c.532G>A (p.Gly178Arg) c.3891G>A c.4933G>A (p.Gly1645Arg) c.4387G>A (p.Gly1463Arg) c.4307-4261G>A (n.4307-4261G>A) n.251G>A n.253-4261G>A n.40-4261G>A c.620G>A c.4660G>A (p.Gly1554Arg) c.4034-4261G>A (n.4034-4261G>A) c.3295G>A (p.Gly1099Arg) c.5209G>A (p.Gly1737Arg) c.3488-4261G>A (n.3488-4261G>A) c.4936G>A (p.Gly1646Arg) c.4390G>A (p.Gly1464Arg) c.4580-4261G>A (n.4580-4261G>A) c.4117G>A (p.Gly1373Arg) c.3761-4261G>A (n.3761-4261G>A) c.3568G>A (p.Gly1190Arg) c.5482G>A (p.Gly1828Arg) c.5206G>A (p.Gly1736Arg) | dbSNP |
9 | g.115046603T>A | CA5207786 | TNC | c.318-4262A>T c.3215-4262A>T (n.3215-4262A>T) c.3843A>T (p.Glu1281Asp) c.1875A>T (p.Glu625Asp) c.531A>T (p.Glu177Asp) c.3890A>T c.4932A>T (p.Glu1644Asp) c.4386A>T (p.Glu1462Asp) c.4307-4262A>T (n.4307-4262A>T) n.250A>T n.253-4262A>T n.40-4262A>T c.619A>T c.4659A>T (p.Glu1553Asp) c.4034-4262A>T (n.4034-4262A>T) c.3294A>T (p.Glu1098Asp) c.5208A>T (p.Glu1736Asp) c.3488-4262A>T (n.3488-4262A>T) c.4935A>T (p.Glu1645Asp) c.4389A>T (p.Glu1463Asp) c.4580-4262A>T (n.4580-4262A>T) c.4116A>T (p.Glu1372Asp) c.3761-4262A>T (n.3761-4262A>T) c.3567A>T (p.Glu1189Asp) c.5481A>T (p.Glu1827Asp) c.5205A>T (p.Glu1735Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.115046603T>C | CA466912525 | TNC | c.318-4262A>G c.3215-4262A>G (n.3215-4262A>G) c.3843A>G (p.Glu1281=) c.1875A>G (p.Glu625=) c.531A>G (p.Glu177=) c.3890A>G c.4932A>G (p.Glu1644=) c.4386A>G (p.Glu1462=) c.4307-4262A>G (n.4307-4262A>G) n.250A>G n.253-4262A>G n.40-4262A>G c.619A>G c.4659A>G (p.Glu1553=) c.4034-4262A>G (n.4034-4262A>G) c.3294A>G (p.Glu1098=) c.5208A>G (p.Glu1736=) c.3488-4262A>G (n.3488-4262A>G) c.4935A>G (p.Glu1645=) c.4389A>G (p.Glu1463=) c.4580-4262A>G (n.4580-4262A>G) c.4116A>G (p.Glu1372=) c.3761-4262A>G (n.3761-4262A>G) c.3567A>G (p.Glu1189=) c.5481A>G (p.Glu1827=) c.5205A>G (p.Glu1735=) | |
9 | g.115046603T>G | CA374631228 | TNC | c.318-4262A>C c.3215-4262A>C (n.3215-4262A>C) c.3843A>C (p.Glu1281Asp) c.1875A>C (p.Glu625Asp) c.531A>C (p.Glu177Asp) c.3890A>C c.4932A>C (p.Glu1644Asp) c.4386A>C (p.Glu1462Asp) c.4307-4262A>C (n.4307-4262A>C) n.250A>C n.253-4262A>C n.40-4262A>C c.619A>C c.4659A>C (p.Glu1553Asp) c.4034-4262A>C (n.4034-4262A>C) c.3294A>C (p.Glu1098Asp) c.5208A>C (p.Glu1736Asp) c.3488-4262A>C (n.3488-4262A>C) c.4935A>C (p.Glu1645Asp) c.4389A>C (p.Glu1463Asp) c.4580-4262A>C (n.4580-4262A>C) c.4116A>C (p.Glu1372Asp) c.3761-4262A>C (n.3761-4262A>C) c.3567A>C (p.Glu1189Asp) c.5481A>C (p.Glu1827Asp) c.5205A>C (p.Glu1735Asp) | |
9 | g.115046603T= | CA1874118937 | TNC | c.318-4262A= c.3215-4262A= (n.3215-4262A=) c.3843A= (p.Glu1281=) c.1875A= (p.Glu625=) c.531A= (p.Glu177=) c.3890A= c.4932A= (p.Glu1644=) c.4386A= (p.Glu1462=) c.4307-4262A= (n.4307-4262A=) n.250A= n.253-4262A= n.40-4262A= c.619A= c.4659A= (p.Glu1553=) c.4034-4262A= (n.4034-4262A=) c.3294A= (p.Glu1098=) c.5208A= (p.Glu1736=) c.3488-4262A= (n.3488-4262A=) c.4935A= (p.Glu1645=) c.4389A= (p.Glu1463=) c.4580-4262A= (n.4580-4262A=) c.4116A= (p.Glu1372=) c.3761-4262A= (n.3761-4262A=) c.3567A= (p.Glu1189=) c.5481A= (p.Glu1827=) c.5205A= (p.Glu1735=) | |
9 | g.115046604T>A | CA374631232 | TNC | c.318-4263A>T c.3215-4263A>T (n.3215-4263A>T) c.3842A>T (p.Glu1281Val) c.1874A>T (p.Glu625Val) c.530A>T (p.Glu177Val) c.3889A>T c.4931A>T (p.Glu1644Val) c.4385A>T (p.Glu1462Val) c.4307-4263A>T (n.4307-4263A>T) n.249A>T n.253-4263A>T n.40-4263A>T c.618A>T c.4658A>T (p.Glu1553Val) c.4034-4263A>T (n.4034-4263A>T) c.3293A>T (p.Glu1098Val) c.5207A>T (p.Glu1736Val) c.3488-4263A>T (n.3488-4263A>T) c.4934A>T (p.Glu1645Val) c.4388A>T (p.Glu1463Val) c.4580-4263A>T (n.4580-4263A>T) c.4115A>T (p.Glu1372Val) c.3761-4263A>T (n.3761-4263A>T) c.3566A>T (p.Glu1189Val) c.5480A>T (p.Glu1827Val) c.5204A>T (p.Glu1735Val) | |
9 | g.115046604T>C | CA374631231 | TNC | c.318-4263A>G c.3215-4263A>G (n.3215-4263A>G) c.3842A>G (p.Glu1281Gly) c.1874A>G (p.Glu625Gly) c.530A>G (p.Glu177Gly) c.3889A>G c.4931A>G (p.Glu1644Gly) c.4385A>G (p.Glu1462Gly) c.4307-4263A>G (n.4307-4263A>G) n.249A>G n.253-4263A>G n.40-4263A>G c.618A>G c.4658A>G (p.Glu1553Gly) c.4034-4263A>G (n.4034-4263A>G) c.3293A>G (p.Glu1098Gly) c.5207A>G (p.Glu1736Gly) c.3488-4263A>G (n.3488-4263A>G) c.4934A>G (p.Glu1645Gly) c.4388A>G (p.Glu1463Gly) c.4580-4263A>G (n.4580-4263A>G) c.4115A>G (p.Glu1372Gly) c.3761-4263A>G (n.3761-4263A>G) c.3566A>G (p.Glu1189Gly) c.5480A>G (p.Glu1827Gly) c.5204A>G (p.Glu1735Gly) | |
9 | g.115046604T>G | CA374631229 | TNC | c.318-4263A>C c.3215-4263A>C (n.3215-4263A>C) c.3842A>C (p.Glu1281Ala) c.1874A>C (p.Glu625Ala) c.530A>C (p.Glu177Ala) c.3889A>C c.4931A>C (p.Glu1644Ala) c.4385A>C (p.Glu1462Ala) c.4307-4263A>C (n.4307-4263A>C) n.249A>C n.253-4263A>C n.40-4263A>C c.618A>C c.4658A>C (p.Glu1553Ala) c.4034-4263A>C (n.4034-4263A>C) c.3293A>C (p.Glu1098Ala) c.5207A>C (p.Glu1736Ala) c.3488-4263A>C (n.3488-4263A>C) c.4934A>C (p.Glu1645Ala) c.4388A>C (p.Glu1463Ala) c.4580-4263A>C (n.4580-4263A>C) c.4115A>C (p.Glu1372Ala) c.3761-4263A>C (n.3761-4263A>C) c.3566A>C (p.Glu1189Ala) c.5480A>C (p.Glu1827Ala) c.5204A>C (p.Glu1735Ala) | |
9 | g.115046605C>A | CA374631234 | TNC | c.318-4264G>T c.3215-4264G>T (n.3215-4264G>T) c.3841G>T (p.Glu1281Ter) c.1873G>T (p.Glu625Ter) c.529G>T (p.Glu177Ter) c.3888G>T c.4930G>T (p.Glu1644Ter) c.4384G>T (p.Glu1462Ter) c.4307-4264G>T (n.4307-4264G>T) n.248G>T n.253-4264G>T n.40-4264G>T c.617G>T c.4657G>T (p.Glu1553Ter) c.4034-4264G>T (n.4034-4264G>T) c.3292G>T (p.Glu1098Ter) c.5206G>T (p.Glu1736Ter) c.3488-4264G>T (n.3488-4264G>T) c.4933G>T (p.Glu1645Ter) c.4387G>T (p.Glu1463Ter) c.4580-4264G>T (n.4580-4264G>T) c.4114G>T (p.Glu1372Ter) c.3761-4264G>T (n.3761-4264G>T) c.3565G>T (p.Glu1189Ter) c.5479G>T (p.Glu1827Ter) c.5203G>T (p.Glu1735Ter) | |
9 | g.115046605C>G | CA374631236 | TNC | c.318-4264G>C c.3215-4264G>C (n.3215-4264G>C) c.3841G>C (p.Glu1281Gln) c.1873G>C (p.Glu625Gln) c.529G>C (p.Glu177Gln) c.3888G>C c.4930G>C (p.Glu1644Gln) c.4384G>C (p.Glu1462Gln) c.4307-4264G>C (n.4307-4264G>C) n.248G>C n.253-4264G>C n.40-4264G>C c.617G>C c.4657G>C (p.Glu1553Gln) c.4034-4264G>C (n.4034-4264G>C) c.3292G>C (p.Glu1098Gln) c.5206G>C (p.Glu1736Gln) c.3488-4264G>C (n.3488-4264G>C) c.4933G>C (p.Glu1645Gln) c.4387G>C (p.Glu1463Gln) c.4580-4264G>C (n.4580-4264G>C) c.4114G>C (p.Glu1372Gln) c.3761-4264G>C (n.3761-4264G>C) c.3565G>C (p.Glu1189Gln) c.5479G>C (p.Glu1827Gln) c.5203G>C (p.Glu1735Gln) | |
9 | g.115046605C>T | CA374631238 | TNC | c.318-4264G>A c.3215-4264G>A (n.3215-4264G>A) c.3841G>A (p.Glu1281Lys) c.1873G>A (p.Glu625Lys) c.529G>A (p.Glu177Lys) c.3888G>A c.4930G>A (p.Glu1644Lys) c.4384G>A (p.Glu1462Lys) c.4307-4264G>A (n.4307-4264G>A) n.248G>A n.253-4264G>A n.40-4264G>A c.617G>A c.4657G>A (p.Glu1553Lys) c.4034-4264G>A (n.4034-4264G>A) c.3292G>A (p.Glu1098Lys) c.5206G>A (p.Glu1736Lys) c.3488-4264G>A (n.3488-4264G>A) c.4933G>A (p.Glu1645Lys) c.4387G>A (p.Glu1463Lys) c.4580-4264G>A (n.4580-4264G>A) c.4114G>A (p.Glu1372Lys) c.3761-4264G>A (n.3761-4264G>A) c.3565G>A (p.Glu1189Lys) c.5479G>A (p.Glu1827Lys) c.5203G>A (p.Glu1735Lys) |