| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) |