Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
9 | g.115046606A>C | CA374631240 | TNC | c.318-4265T>G c.3215-4265T>G (n.3215-4265T>G) c.3840T>G (p.Asp1280Glu) c.1872T>G (p.Asp624Glu) c.528T>G (p.Asp176Glu) c.3887T>G c.4929T>G (p.Asp1643Glu) c.4383T>G (p.Asp1461Glu) c.4307-4265T>G (n.4307-4265T>G) n.247T>G n.253-4265T>G n.40-4265T>G c.616T>G c.4656T>G (p.Asp1552Glu) c.4034-4265T>G (n.4034-4265T>G) c.3291T>G (p.Asp1097Glu) c.5205T>G (p.Asp1735Glu) c.3488-4265T>G (n.3488-4265T>G) c.4932T>G (p.Asp1644Glu) c.4386T>G (p.Asp1462Glu) c.4580-4265T>G (n.4580-4265T>G) c.4113T>G (p.Asp1371Glu) c.3761-4265T>G (n.3761-4265T>G) c.3564T>G (p.Asp1188Glu) c.5478T>G (p.Asp1826Glu) c.5202T>G (p.Asp1734Glu) | gnomAD v4 |
9 | g.115046606A>G | CA466912529 | TNC | c.318-4265T>C c.3215-4265T>C (n.3215-4265T>C) c.3840T>C (p.Asp1280=) c.1872T>C (p.Asp624=) c.528T>C (p.Asp176=) c.3887T>C c.4929T>C (p.Asp1643=) c.4383T>C (p.Asp1461=) c.4307-4265T>C (n.4307-4265T>C) n.247T>C n.253-4265T>C n.40-4265T>C c.616T>C c.4656T>C (p.Asp1552=) c.4034-4265T>C (n.4034-4265T>C) c.3291T>C (p.Asp1097=) c.5205T>C (p.Asp1735=) c.3488-4265T>C (n.3488-4265T>C) c.4932T>C (p.Asp1644=) c.4386T>C (p.Asp1462=) c.4580-4265T>C (n.4580-4265T>C) c.4113T>C (p.Asp1371=) c.3761-4265T>C (n.3761-4265T>C) c.3564T>C (p.Asp1188=) c.5478T>C (p.Asp1826=) c.5202T>C (p.Asp1734=) | gnomAD v4 |
9 | g.115046606A>T | CA374631241 | TNC | c.318-4265T>A c.3215-4265T>A (n.3215-4265T>A) c.3840T>A (p.Asp1280Glu) c.1872T>A (p.Asp624Glu) c.528T>A (p.Asp176Glu) c.3887T>A c.4929T>A (p.Asp1643Glu) c.4383T>A (p.Asp1461Glu) c.4307-4265T>A (n.4307-4265T>A) n.247T>A n.253-4265T>A n.40-4265T>A c.616T>A c.4656T>A (p.Asp1552Glu) c.4034-4265T>A (n.4034-4265T>A) c.3291T>A (p.Asp1097Glu) c.5205T>A (p.Asp1735Glu) c.3488-4265T>A (n.3488-4265T>A) c.4932T>A (p.Asp1644Glu) c.4386T>A (p.Asp1462Glu) c.4580-4265T>A (n.4580-4265T>A) c.4113T>A (p.Asp1371Glu) c.3761-4265T>A (n.3761-4265T>A) c.3564T>A (p.Asp1188Glu) c.5478T>A (p.Asp1826Glu) c.5202T>A (p.Asp1734Glu) | |
9 | g.115046607T>A | CA374631243 | TNC | c.318-4266A>T c.3215-4266A>T (n.3215-4266A>T) c.3839A>T (p.Asp1280Val) c.1871A>T (p.Asp624Val) c.527A>T (p.Asp176Val) c.3886A>T c.4928A>T (p.Asp1643Val) c.4382A>T (p.Asp1461Val) c.4307-4266A>T (n.4307-4266A>T) n.246A>T n.253-4266A>T n.40-4266A>T c.615A>T c.4655A>T (p.Asp1552Val) c.4034-4266A>T (n.4034-4266A>T) c.3290A>T (p.Asp1097Val) c.5204A>T (p.Asp1735Val) c.3488-4266A>T (n.3488-4266A>T) c.4931A>T (p.Asp1644Val) c.4385A>T (p.Asp1462Val) c.4580-4266A>T (n.4580-4266A>T) c.4112A>T (p.Asp1371Val) c.3761-4266A>T (n.3761-4266A>T) c.3563A>T (p.Asp1188Val) c.5477A>T (p.Asp1826Val) c.5201A>T (p.Asp1734Val) | |
9 | g.115046607T>C | CA374631244 | TNC | c.318-4266A>G c.3215-4266A>G (n.3215-4266A>G) c.3839A>G (p.Asp1280Gly) c.1871A>G (p.Asp624Gly) c.527A>G (p.Asp176Gly) c.3886A>G c.4928A>G (p.Asp1643Gly) c.4382A>G (p.Asp1461Gly) c.4307-4266A>G (n.4307-4266A>G) n.246A>G n.253-4266A>G n.40-4266A>G c.615A>G c.4655A>G (p.Asp1552Gly) c.4034-4266A>G (n.4034-4266A>G) c.3290A>G (p.Asp1097Gly) c.5204A>G (p.Asp1735Gly) c.3488-4266A>G (n.3488-4266A>G) c.4931A>G (p.Asp1644Gly) c.4385A>G (p.Asp1462Gly) c.4580-4266A>G (n.4580-4266A>G) c.4112A>G (p.Asp1371Gly) c.3761-4266A>G (n.3761-4266A>G) c.3563A>G (p.Asp1188Gly) c.5477A>G (p.Asp1826Gly) c.5201A>G (p.Asp1734Gly) | |
9 | g.115046607T>G | CA374631245 | TNC | c.318-4266A>C c.3215-4266A>C (n.3215-4266A>C) c.3839A>C (p.Asp1280Ala) c.1871A>C (p.Asp624Ala) c.527A>C (p.Asp176Ala) c.3886A>C c.4928A>C (p.Asp1643Ala) c.4382A>C (p.Asp1461Ala) c.4307-4266A>C (n.4307-4266A>C) n.246A>C n.253-4266A>C n.40-4266A>C c.615A>C c.4655A>C (p.Asp1552Ala) c.4034-4266A>C (n.4034-4266A>C) c.3290A>C (p.Asp1097Ala) c.5204A>C (p.Asp1735Ala) c.3488-4266A>C (n.3488-4266A>C) c.4931A>C (p.Asp1644Ala) c.4385A>C (p.Asp1462Ala) c.4580-4266A>C (n.4580-4266A>C) c.4112A>C (p.Asp1371Ala) c.3761-4266A>C (n.3761-4266A>C) c.3563A>C (p.Asp1188Ala) c.5477A>C (p.Asp1826Ala) c.5201A>C (p.Asp1734Ala) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.115046607T= | CA1874118938 | TNC | c.318-4266A= c.3215-4266A= (n.3215-4266A=) c.3839A= (p.Asp1280=) c.1871A= (p.Asp624=) c.527A= (p.Asp176=) c.3886A= c.4928A= (p.Asp1643=) c.4382A= (p.Asp1461=) c.4307-4266A= (n.4307-4266A=) n.246A= n.253-4266A= n.40-4266A= c.615A= c.4655A= (p.Asp1552=) c.4034-4266A= (n.4034-4266A=) c.3290A= (p.Asp1097=) c.5204A= (p.Asp1735=) c.3488-4266A= (n.3488-4266A=) c.4931A= (p.Asp1644=) c.4385A= (p.Asp1462=) c.4580-4266A= (n.4580-4266A=) c.4112A= (p.Asp1371=) c.3761-4266A= (n.3761-4266A=) c.3563A= (p.Asp1188=) c.5477A= (p.Asp1826=) c.5201A= (p.Asp1734=) | |
9 | g.115046608C>A | CA374631246 | TNC | c.318-4267G>T c.3215-4267G>T (n.3215-4267G>T) c.3838G>T (p.Asp1280Tyr) c.1870G>T (p.Asp624Tyr) c.526G>T (p.Asp176Tyr) c.3885G>T c.4927G>T (p.Asp1643Tyr) c.4381G>T (p.Asp1461Tyr) c.4307-4267G>T (n.4307-4267G>T) n.245G>T n.253-4267G>T n.40-4267G>T c.614G>T c.4654G>T (p.Asp1552Tyr) c.4034-4267G>T (n.4034-4267G>T) c.3289G>T (p.Asp1097Tyr) c.5203G>T (p.Asp1735Tyr) c.3488-4267G>T (n.3488-4267G>T) c.4930G>T (p.Asp1644Tyr) c.4384G>T (p.Asp1462Tyr) c.4580-4267G>T (n.4580-4267G>T) c.4111G>T (p.Asp1371Tyr) c.3761-4267G>T (n.3761-4267G>T) c.3562G>T (p.Asp1188Tyr) c.5476G>T (p.Asp1826Tyr) c.5200G>T (p.Asp1734Tyr) | |
9 | g.115046608C= | CA1874118939 | TNC | c.318-4267G= c.3215-4267G= (n.3215-4267G=) c.3838G= (p.Asp1280=) c.1870G= (p.Asp624=) c.526G= (p.Asp176=) c.3885G= c.4927G= (p.Asp1643=) c.4381G= (p.Asp1461=) c.4307-4267G= (n.4307-4267G=) n.245G= n.253-4267G= n.40-4267G= c.614G= c.4654G= (p.Asp1552=) c.4034-4267G= (n.4034-4267G=) c.3289G= (p.Asp1097=) c.5203G= (p.Asp1735=) c.3488-4267G= (n.3488-4267G=) c.4930G= (p.Asp1644=) c.4384G= (p.Asp1462=) c.4580-4267G= (n.4580-4267G=) c.4111G= (p.Asp1371=) c.3761-4267G= (n.3761-4267G=) c.3562G= (p.Asp1188=) c.5476G= (p.Asp1826=) c.5200G= (p.Asp1734=) | |
9 | g.115046608C>G | CA374631248 | TNC | c.318-4267G>C c.3215-4267G>C (n.3215-4267G>C) c.3838G>C (p.Asp1280His) c.1870G>C (p.Asp624His) c.526G>C (p.Asp176His) c.3885G>C c.4927G>C (p.Asp1643His) c.4381G>C (p.Asp1461His) c.4307-4267G>C (n.4307-4267G>C) n.245G>C n.253-4267G>C n.40-4267G>C c.614G>C c.4654G>C (p.Asp1552His) c.4034-4267G>C (n.4034-4267G>C) c.3289G>C (p.Asp1097His) c.5203G>C (p.Asp1735His) c.3488-4267G>C (n.3488-4267G>C) c.4930G>C (p.Asp1644His) c.4384G>C (p.Asp1462His) c.4580-4267G>C (n.4580-4267G>C) c.4111G>C (p.Asp1371His) c.3761-4267G>C (n.3761-4267G>C) c.3562G>C (p.Asp1188His) c.5476G>C (p.Asp1826His) c.5200G>C (p.Asp1734His) | |
9 | g.115046608C>T | CA5207787 | TNC | c.318-4267G>A c.3215-4267G>A (n.3215-4267G>A) c.3838G>A (p.Asp1280Asn) c.1870G>A (p.Asp624Asn) c.526G>A (p.Asp176Asn) c.3885G>A c.4927G>A (p.Asp1643Asn) c.4381G>A (p.Asp1461Asn) c.4307-4267G>A (n.4307-4267G>A) n.245G>A n.253-4267G>A n.40-4267G>A c.614G>A c.4654G>A (p.Asp1552Asn) c.4034-4267G>A (n.4034-4267G>A) c.3289G>A (p.Asp1097Asn) c.5203G>A (p.Asp1735Asn) c.3488-4267G>A (n.3488-4267G>A) c.4930G>A (p.Asp1644Asn) c.4384G>A (p.Asp1462Asn) c.4580-4267G>A (n.4580-4267G>A) c.4111G>A (p.Asp1371Asn) c.3761-4267G>A (n.3761-4267G>A) c.3562G>A (p.Asp1188Asn) c.5476G>A (p.Asp1826Asn) c.5200G>A (p.Asp1734Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
9 | g.115046609A>C | CA466912531 | TNC | c.318-4268T>G c.3215-4268T>G (n.3215-4268T>G) c.3837T>G (p.Ala1279=) c.1869T>G (p.Ala623=) c.525T>G (p.Ala175=) c.3884T>G c.4926T>G (p.Ala1642=) c.4380T>G (p.Ala1460=) c.4307-4268T>G (n.4307-4268T>G) n.244T>G n.253-4268T>G n.40-4268T>G c.613T>G c.4653T>G (p.Ala1551=) c.4034-4268T>G (n.4034-4268T>G) c.3288T>G (p.Ala1096=) c.5202T>G (p.Ala1734=) c.3488-4268T>G (n.3488-4268T>G) c.4929T>G (p.Ala1643=) c.4383T>G (p.Ala1461=) c.4580-4268T>G (n.4580-4268T>G) c.4110T>G (p.Ala1370=) c.3761-4268T>G (n.3761-4268T>G) c.3561T>G (p.Ala1187=) c.5475T>G (p.Ala1825=) c.5199T>G (p.Ala1733=) | |
9 | g.115046609A>G | CA466912532 | TNC | c.318-4268T>C c.3215-4268T>C (n.3215-4268T>C) c.3837T>C (p.Ala1279=) c.1869T>C (p.Ala623=) c.525T>C (p.Ala175=) c.3884T>C c.4926T>C (p.Ala1642=) c.4380T>C (p.Ala1460=) c.4307-4268T>C (n.4307-4268T>C) n.244T>C n.253-4268T>C n.40-4268T>C c.613T>C c.4653T>C (p.Ala1551=) c.4034-4268T>C (n.4034-4268T>C) c.3288T>C (p.Ala1096=) c.5202T>C (p.Ala1734=) c.3488-4268T>C (n.3488-4268T>C) c.4929T>C (p.Ala1643=) c.4383T>C (p.Ala1461=) c.4580-4268T>C (n.4580-4268T>C) c.4110T>C (p.Ala1370=) c.3761-4268T>C (n.3761-4268T>C) c.3561T>C (p.Ala1187=) c.5475T>C (p.Ala1825=) c.5199T>C (p.Ala1733=) | |
9 | g.115046609A>T | CA466912533 | TNC | c.318-4268T>A c.3215-4268T>A (n.3215-4268T>A) c.3837T>A (p.Ala1279=) c.1869T>A (p.Ala623=) c.525T>A (p.Ala175=) c.3884T>A c.4926T>A (p.Ala1642=) c.4380T>A (p.Ala1460=) c.4307-4268T>A (n.4307-4268T>A) n.244T>A n.253-4268T>A n.40-4268T>A c.613T>A c.4653T>A (p.Ala1551=) c.4034-4268T>A (n.4034-4268T>A) c.3288T>A (p.Ala1096=) c.5202T>A (p.Ala1734=) c.3488-4268T>A (n.3488-4268T>A) c.4929T>A (p.Ala1643=) c.4383T>A (p.Ala1461=) c.4580-4268T>A (n.4580-4268T>A) c.4110T>A (p.Ala1370=) c.3761-4268T>A (n.3761-4268T>A) c.3561T>A (p.Ala1187=) c.5475T>A (p.Ala1825=) c.5199T>A (p.Ala1733=) | |
9 | g.115046610G>A | CA374631254 | TNC | c.318-4269C>T c.3215-4269C>T (n.3215-4269C>T) c.3836C>T (p.Ala1279Val) c.1868C>T (p.Ala623Val) c.524C>T (p.Ala175Val) c.3883C>T c.4925C>T (p.Ala1642Val) c.4379C>T (p.Ala1460Val) c.4307-4269C>T (n.4307-4269C>T) n.243C>T n.253-4269C>T n.40-4269C>T c.612C>T c.4652C>T (p.Ala1551Val) c.4034-4269C>T (n.4034-4269C>T) c.3287C>T (p.Ala1096Val) c.5201C>T (p.Ala1734Val) c.3488-4269C>T (n.3488-4269C>T) c.4928C>T (p.Ala1643Val) c.4382C>T (p.Ala1461Val) c.4580-4269C>T (n.4580-4269C>T) c.4109C>T (p.Ala1370Val) c.3761-4269C>T (n.3761-4269C>T) c.3560C>T (p.Ala1187Val) c.5474C>T (p.Ala1825Val) c.5198C>T (p.Ala1733Val) | |
9 | g.115046610G>C | CA374631252 | TNC | c.318-4269C>G c.3215-4269C>G (n.3215-4269C>G) c.3836C>G (p.Ala1279Gly) c.1868C>G (p.Ala623Gly) c.524C>G (p.Ala175Gly) c.3883C>G c.4925C>G (p.Ala1642Gly) c.4379C>G (p.Ala1460Gly) c.4307-4269C>G (n.4307-4269C>G) n.243C>G n.253-4269C>G n.40-4269C>G c.612C>G c.4652C>G (p.Ala1551Gly) c.4034-4269C>G (n.4034-4269C>G) c.3287C>G (p.Ala1096Gly) c.5201C>G (p.Ala1734Gly) c.3488-4269C>G (n.3488-4269C>G) c.4928C>G (p.Ala1643Gly) c.4382C>G (p.Ala1461Gly) c.4580-4269C>G (n.4580-4269C>G) c.4109C>G (p.Ala1370Gly) c.3761-4269C>G (n.3761-4269C>G) c.3560C>G (p.Ala1187Gly) c.5474C>G (p.Ala1825Gly) c.5198C>G (p.Ala1733Gly) | |
9 | g.115046610G>T | CA374631250 | TNC | c.318-4269C>A c.3215-4269C>A (n.3215-4269C>A) c.3836C>A (p.Ala1279Asp) c.1868C>A (p.Ala623Asp) c.524C>A (p.Ala175Asp) c.3883C>A c.4925C>A (p.Ala1642Asp) c.4379C>A (p.Ala1460Asp) c.4307-4269C>A (n.4307-4269C>A) n.243C>A n.253-4269C>A n.40-4269C>A c.612C>A c.4652C>A (p.Ala1551Asp) c.4034-4269C>A (n.4034-4269C>A) c.3287C>A (p.Ala1096Asp) c.5201C>A (p.Ala1734Asp) c.3488-4269C>A (n.3488-4269C>A) c.4928C>A (p.Ala1643Asp) c.4382C>A (p.Ala1461Asp) c.4580-4269C>A (n.4580-4269C>A) c.4109C>A (p.Ala1370Asp) c.3761-4269C>A (n.3761-4269C>A) c.3560C>A (p.Ala1187Asp) c.5474C>A (p.Ala1825Asp) c.5198C>A (p.Ala1733Asp) | |
9 | g.115046611C>A | CA374631256 | TNC | c.318-4270G>T c.3215-4270G>T (n.3215-4270G>T) c.3835G>T (p.Ala1279Ser) c.1867G>T (p.Ala623Ser) c.523G>T (p.Ala175Ser) c.3882G>T c.4924G>T (p.Ala1642Ser) c.4378G>T (p.Ala1460Ser) c.4307-4270G>T (n.4307-4270G>T) n.242G>T n.253-4270G>T n.40-4270G>T c.611G>T c.4651G>T (p.Ala1551Ser) c.4034-4270G>T (n.4034-4270G>T) c.3286G>T (p.Ala1096Ser) c.5200G>T (p.Ala1734Ser) c.3488-4270G>T (n.3488-4270G>T) c.4927G>T (p.Ala1643Ser) c.4381G>T (p.Ala1461Ser) c.4580-4270G>T (n.4580-4270G>T) c.4108G>T (p.Ala1370Ser) c.3761-4270G>T (n.3761-4270G>T) c.3559G>T (p.Ala1187Ser) c.5473G>T (p.Ala1825Ser) c.5197G>T (p.Ala1733Ser) | |
9 | g.115046611C>G | CA374631257 | TNC | c.318-4270G>C c.3215-4270G>C (n.3215-4270G>C) c.3835G>C (p.Ala1279Pro) c.1867G>C (p.Ala623Pro) c.523G>C (p.Ala175Pro) c.3882G>C c.4924G>C (p.Ala1642Pro) c.4378G>C (p.Ala1460Pro) c.4307-4270G>C (n.4307-4270G>C) n.242G>C n.253-4270G>C n.40-4270G>C c.611G>C c.4651G>C (p.Ala1551Pro) c.4034-4270G>C (n.4034-4270G>C) c.3286G>C (p.Ala1096Pro) c.5200G>C (p.Ala1734Pro) c.3488-4270G>C (n.3488-4270G>C) c.4927G>C (p.Ala1643Pro) c.4381G>C (p.Ala1461Pro) c.4580-4270G>C (n.4580-4270G>C) c.4108G>C (p.Ala1370Pro) c.3761-4270G>C (n.3761-4270G>C) c.3559G>C (p.Ala1187Pro) c.5473G>C (p.Ala1825Pro) c.5197G>C (p.Ala1733Pro) | |
9 | g.115046611C>T | CA374631258 | TNC | c.318-4270G>A c.3215-4270G>A (n.3215-4270G>A) c.3835G>A (p.Ala1279Thr) c.1867G>A (p.Ala623Thr) c.523G>A (p.Ala175Thr) c.3882G>A c.4924G>A (p.Ala1642Thr) c.4378G>A (p.Ala1460Thr) c.4307-4270G>A (n.4307-4270G>A) n.242G>A n.253-4270G>A n.40-4270G>A c.611G>A c.4651G>A (p.Ala1551Thr) c.4034-4270G>A (n.4034-4270G>A) c.3286G>A (p.Ala1096Thr) c.5200G>A (p.Ala1734Thr) c.3488-4270G>A (n.3488-4270G>A) c.4927G>A (p.Ala1643Thr) c.4381G>A (p.Ala1461Thr) c.4580-4270G>A (n.4580-4270G>A) c.4108G>A (p.Ala1370Thr) c.3761-4270G>A (n.3761-4270G>A) c.3559G>A (p.Ala1187Thr) c.5473G>A (p.Ala1825Thr) c.5197G>A (p.Ala1733Thr) | |
9 | g.115046612T>A | CA466912537 | TNC | c.318-4271A>T c.3215-4271A>T (n.3215-4271A>T) c.3834A>T (p.Thr1278=) c.1866A>T (p.Thr622=) c.522A>T (p.Thr174=) c.3881A>T c.4923A>T (p.Thr1641=) c.4377A>T (p.Thr1459=) c.4307-4271A>T (n.4307-4271A>T) n.241A>T n.253-4271A>T n.40-4271A>T c.610A>T c.4650A>T (p.Thr1550=) c.4034-4271A>T (n.4034-4271A>T) c.3285A>T (p.Thr1095=) c.5199A>T (p.Thr1733=) c.3488-4271A>T (n.3488-4271A>T) c.4926A>T (p.Thr1642=) c.4380A>T (p.Thr1460=) c.4580-4271A>T (n.4580-4271A>T) c.4107A>T (p.Thr1369=) c.3761-4271A>T (n.3761-4271A>T) c.3558A>T (p.Thr1186=) c.5472A>T (p.Thr1824=) c.5196A>T (p.Thr1732=) | |
9 | g.115046612T>C | CA466912538 | TNC | c.318-4271A>G c.3215-4271A>G (n.3215-4271A>G) c.3834A>G (p.Thr1278=) c.1866A>G (p.Thr622=) c.522A>G (p.Thr174=) c.3881A>G c.4923A>G (p.Thr1641=) c.4377A>G (p.Thr1459=) c.4307-4271A>G (n.4307-4271A>G) n.241A>G n.253-4271A>G n.40-4271A>G c.610A>G c.4650A>G (p.Thr1550=) c.4034-4271A>G (n.4034-4271A>G) c.3285A>G (p.Thr1095=) c.5199A>G (p.Thr1733=) c.3488-4271A>G (n.3488-4271A>G) c.4926A>G (p.Thr1642=) c.4380A>G (p.Thr1460=) c.4580-4271A>G (n.4580-4271A>G) c.4107A>G (p.Thr1369=) c.3761-4271A>G (n.3761-4271A>G) c.3558A>G (p.Thr1186=) c.5472A>G (p.Thr1824=) c.5196A>G (p.Thr1732=) | |
9 | g.115046612T>G | CA466912539 | TNC | c.318-4271A>C c.3215-4271A>C (n.3215-4271A>C) c.3834A>C (p.Thr1278=) c.1866A>C (p.Thr622=) c.522A>C (p.Thr174=) c.3881A>C c.4923A>C (p.Thr1641=) c.4377A>C (p.Thr1459=) c.4307-4271A>C (n.4307-4271A>C) n.241A>C n.253-4271A>C n.40-4271A>C c.610A>C c.4650A>C (p.Thr1550=) c.4034-4271A>C (n.4034-4271A>C) c.3285A>C (p.Thr1095=) c.5199A>C (p.Thr1733=) c.3488-4271A>C (n.3488-4271A>C) c.4926A>C (p.Thr1642=) c.4380A>C (p.Thr1460=) c.4580-4271A>C (n.4580-4271A>C) c.4107A>C (p.Thr1369=) c.3761-4271A>C (n.3761-4271A>C) c.3558A>C (p.Thr1186=) c.5472A>C (p.Thr1824=) c.5196A>C (p.Thr1732=) | |
9 | g.115046613G>A | CA374631259 | TNC | c.318-4272C>T c.3215-4272C>T (n.3215-4272C>T) c.3833C>T (p.Thr1278Ile) c.1865C>T (p.Thr622Ile) c.521C>T (p.Thr174Ile) c.3880C>T c.4922C>T (p.Thr1641Ile) c.4376C>T (p.Thr1459Ile) c.4307-4272C>T (n.4307-4272C>T) n.240C>T n.253-4272C>T n.40-4272C>T c.609C>T c.4649C>T (p.Thr1550Ile) c.4034-4272C>T (n.4034-4272C>T) c.3284C>T (p.Thr1095Ile) c.5198C>T (p.Thr1733Ile) c.3488-4272C>T (n.3488-4272C>T) c.4925C>T (p.Thr1642Ile) c.4379C>T (p.Thr1460Ile) c.4580-4272C>T (n.4580-4272C>T) c.4106C>T (p.Thr1369Ile) c.3761-4272C>T (n.3761-4272C>T) c.3557C>T (p.Thr1186Ile) c.5471C>T (p.Thr1824Ile) c.5195C>T (p.Thr1732Ile) | gnomAD v4 |
9 | g.115046613G>C | CA374631261 | TNC | c.318-4272C>G c.3215-4272C>G (n.3215-4272C>G) c.3833C>G (p.Thr1278Arg) c.1865C>G (p.Thr622Arg) c.521C>G (p.Thr174Arg) c.3880C>G c.4922C>G (p.Thr1641Arg) c.4376C>G (p.Thr1459Arg) c.4307-4272C>G (n.4307-4272C>G) n.240C>G n.253-4272C>G n.40-4272C>G c.609C>G c.4649C>G (p.Thr1550Arg) c.4034-4272C>G (n.4034-4272C>G) c.3284C>G (p.Thr1095Arg) c.5198C>G (p.Thr1733Arg) c.3488-4272C>G (n.3488-4272C>G) c.4925C>G (p.Thr1642Arg) c.4379C>G (p.Thr1460Arg) c.4580-4272C>G (n.4580-4272C>G) c.4106C>G (p.Thr1369Arg) c.3761-4272C>G (n.3761-4272C>G) c.3557C>G (p.Thr1186Arg) c.5471C>G (p.Thr1824Arg) c.5195C>G (p.Thr1732Arg) | |
9 | g.115046613G>T | CA374631263 | TNC | c.318-4272C>A c.3215-4272C>A (n.3215-4272C>A) c.3833C>A (p.Thr1278Lys) c.1865C>A (p.Thr622Lys) c.521C>A (p.Thr174Lys) c.3880C>A c.4922C>A (p.Thr1641Lys) c.4376C>A (p.Thr1459Lys) c.4307-4272C>A (n.4307-4272C>A) n.240C>A n.253-4272C>A n.40-4272C>A c.609C>A c.4649C>A (p.Thr1550Lys) c.4034-4272C>A (n.4034-4272C>A) c.3284C>A (p.Thr1095Lys) c.5198C>A (p.Thr1733Lys) c.3488-4272C>A (n.3488-4272C>A) c.4925C>A (p.Thr1642Lys) c.4379C>A (p.Thr1460Lys) c.4580-4272C>A (n.4580-4272C>A) c.4106C>A (p.Thr1369Lys) c.3761-4272C>A (n.3761-4272C>A) c.3557C>A (p.Thr1186Lys) c.5471C>A (p.Thr1824Lys) c.5195C>A (p.Thr1732Lys) | COSMIC |
9 | g.115046614T>A | CA374631264 | TNC | c.318-4273A>T c.3215-4273A>T (n.3215-4273A>T) c.3832A>T (p.Thr1278Ser) c.1864A>T (p.Thr622Ser) c.520A>T (p.Thr174Ser) c.3879A>T c.4921A>T (p.Thr1641Ser) c.4375A>T (p.Thr1459Ser) c.4307-4273A>T (n.4307-4273A>T) n.239A>T n.253-4273A>T n.40-4273A>T c.608A>T c.4648A>T (p.Thr1550Ser) c.4034-4273A>T (n.4034-4273A>T) c.3283A>T (p.Thr1095Ser) c.5197A>T (p.Thr1733Ser) c.3488-4273A>T (n.3488-4273A>T) c.4924A>T (p.Thr1642Ser) c.4378A>T (p.Thr1460Ser) c.4580-4273A>T (n.4580-4273A>T) c.4105A>T (p.Thr1369Ser) c.3761-4273A>T (n.3761-4273A>T) c.3556A>T (p.Thr1186Ser) c.5470A>T (p.Thr1824Ser) c.5194A>T (p.Thr1732Ser) | |
9 | g.115046614T>C | CA374631265 | TNC | c.318-4273A>G c.3215-4273A>G (n.3215-4273A>G) c.3832A>G (p.Thr1278Ala) c.1864A>G (p.Thr622Ala) c.520A>G (p.Thr174Ala) c.3879A>G c.4921A>G (p.Thr1641Ala) c.4375A>G (p.Thr1459Ala) c.4307-4273A>G (n.4307-4273A>G) n.239A>G n.253-4273A>G n.40-4273A>G c.608A>G c.4648A>G (p.Thr1550Ala) c.4034-4273A>G (n.4034-4273A>G) c.3283A>G (p.Thr1095Ala) c.5197A>G (p.Thr1733Ala) c.3488-4273A>G (n.3488-4273A>G) c.4924A>G (p.Thr1642Ala) c.4378A>G (p.Thr1460Ala) c.4580-4273A>G (n.4580-4273A>G) c.4105A>G (p.Thr1369Ala) c.3761-4273A>G (n.3761-4273A>G) c.3556A>G (p.Thr1186Ala) c.5470A>G (p.Thr1824Ala) c.5194A>G (p.Thr1732Ala) | gnomAD v3 gnomAD v4 |
9 | g.115046614T>G | CA374631267 | TNC | c.318-4273A>C c.3215-4273A>C (n.3215-4273A>C) c.3832A>C (p.Thr1278Pro) c.1864A>C (p.Thr622Pro) c.520A>C (p.Thr174Pro) c.3879A>C c.4921A>C (p.Thr1641Pro) c.4375A>C (p.Thr1459Pro) c.4307-4273A>C (n.4307-4273A>C) n.239A>C n.253-4273A>C n.40-4273A>C c.608A>C c.4648A>C (p.Thr1550Pro) c.4034-4273A>C (n.4034-4273A>C) c.3283A>C (p.Thr1095Pro) c.5197A>C (p.Thr1733Pro) c.3488-4273A>C (n.3488-4273A>C) c.4924A>C (p.Thr1642Pro) c.4378A>C (p.Thr1460Pro) c.4580-4273A>C (n.4580-4273A>C) c.4105A>C (p.Thr1369Pro) c.3761-4273A>C (n.3761-4273A>C) c.3556A>C (p.Thr1186Pro) c.5470A>C (p.Thr1824Pro) c.5194A>C (p.Thr1732Pro) | gnomAD v4 |
9 | g.115046615C>A | CA374631269 | TNC | c.318-4274G>T c.3215-4274G>T (n.3215-4274G>T) c.3831G>T (p.Trp1277Cys) c.1863G>T (p.Trp621Cys) c.519G>T (p.Trp173Cys) c.3878G>T c.4920G>T (p.Trp1640Cys) c.4374G>T (p.Trp1458Cys) c.4307-4274G>T (n.4307-4274G>T) n.238G>T n.253-4274G>T n.40-4274G>T c.607G>T c.4647G>T (p.Trp1549Cys) c.4034-4274G>T (n.4034-4274G>T) c.3282G>T (p.Trp1094Cys) c.5196G>T (p.Trp1732Cys) c.3488-4274G>T (n.3488-4274G>T) c.4923G>T (p.Trp1641Cys) c.4377G>T (p.Trp1459Cys) c.4580-4274G>T (n.4580-4274G>T) c.4104G>T (p.Trp1368Cys) c.3761-4274G>T (n.3761-4274G>T) c.3555G>T (p.Trp1185Cys) c.5469G>T (p.Trp1823Cys) c.5193G>T (p.Trp1731Cys) | |
9 | g.115046615C>G | CA374631271 | TNC | c.318-4274G>C c.3215-4274G>C (n.3215-4274G>C) c.3831G>C (p.Trp1277Cys) c.1863G>C (p.Trp621Cys) c.519G>C (p.Trp173Cys) c.3878G>C c.4920G>C (p.Trp1640Cys) c.4374G>C (p.Trp1458Cys) c.4307-4274G>C (n.4307-4274G>C) n.238G>C n.253-4274G>C n.40-4274G>C c.607G>C c.4647G>C (p.Trp1549Cys) c.4034-4274G>C (n.4034-4274G>C) c.3282G>C (p.Trp1094Cys) c.5196G>C (p.Trp1732Cys) c.3488-4274G>C (n.3488-4274G>C) c.4923G>C (p.Trp1641Cys) c.4377G>C (p.Trp1459Cys) c.4580-4274G>C (n.4580-4274G>C) c.4104G>C (p.Trp1368Cys) c.3761-4274G>C (n.3761-4274G>C) c.3555G>C (p.Trp1185Cys) c.5469G>C (p.Trp1823Cys) c.5193G>C (p.Trp1731Cys) | |
9 | g.115046615C>T | CA374631272 | TNC | c.318-4274G>A c.3215-4274G>A (n.3215-4274G>A) c.3831G>A (p.Trp1277Ter) c.1863G>A (p.Trp621Ter) c.519G>A (p.Trp173Ter) c.3878G>A c.4920G>A (p.Trp1640Ter) c.4374G>A (p.Trp1458Ter) c.4307-4274G>A (n.4307-4274G>A) n.238G>A n.253-4274G>A n.40-4274G>A c.607G>A c.4647G>A (p.Trp1549Ter) c.4034-4274G>A (n.4034-4274G>A) c.3282G>A (p.Trp1094Ter) c.5196G>A (p.Trp1732Ter) c.3488-4274G>A (n.3488-4274G>A) c.4923G>A (p.Trp1641Ter) c.4377G>A (p.Trp1459Ter) c.4580-4274G>A (n.4580-4274G>A) c.4104G>A (p.Trp1368Ter) c.3761-4274G>A (n.3761-4274G>A) c.3555G>A (p.Trp1185Ter) c.5469G>A (p.Trp1823Ter) c.5193G>A (p.Trp1731Ter) | gnomAD v4 |
9 | g.115046616C>A | CA374631278 | TNC | c.318-4275G>T c.3215-4275G>T (n.3215-4275G>T) c.3830G>T (p.Trp1277Leu) c.1862G>T (p.Trp621Leu) c.518G>T (p.Trp173Leu) c.3877G>T c.4919G>T (p.Trp1640Leu) c.4373G>T (p.Trp1458Leu) c.4307-4275G>T (n.4307-4275G>T) n.237G>T n.253-4275G>T n.40-4275G>T c.606G>T c.4646G>T (p.Trp1549Leu) c.4034-4275G>T (n.4034-4275G>T) c.3281G>T (p.Trp1094Leu) c.5195G>T (p.Trp1732Leu) c.3488-4275G>T (n.3488-4275G>T) c.4922G>T (p.Trp1641Leu) c.4376G>T (p.Trp1459Leu) c.4580-4275G>T (n.4580-4275G>T) c.4103G>T (p.Trp1368Leu) c.3761-4275G>T (n.3761-4275G>T) c.3554G>T (p.Trp1185Leu) c.5468G>T (p.Trp1823Leu) c.5192G>T (p.Trp1731Leu) | |
9 | g.115046616C= | CA1874118940 | TNC | c.318-4275G= c.3215-4275G= (n.3215-4275G=) c.3830G= (p.Trp1277=) c.1862G= (p.Trp621=) c.518G= (p.Trp173=) c.3877G= c.4919G= (p.Trp1640=) c.4373G= (p.Trp1458=) c.4307-4275G= (n.4307-4275G=) n.237G= n.253-4275G= n.40-4275G= c.606G= c.4646G= (p.Trp1549=) c.4034-4275G= (n.4034-4275G=) c.3281G= (p.Trp1094=) c.5195G= (p.Trp1732=) c.3488-4275G= (n.3488-4275G=) c.4922G= (p.Trp1641=) c.4376G= (p.Trp1459=) c.4580-4275G= (n.4580-4275G=) c.4103G= (p.Trp1368=) c.3761-4275G= (n.3761-4275G=) c.3554G= (p.Trp1185=) c.5468G= (p.Trp1823=) c.5192G= (p.Trp1731=) | |
9 | g.115046616C>G | CA374631276 | TNC | c.318-4275G>C c.3215-4275G>C (n.3215-4275G>C) c.3830G>C (p.Trp1277Ser) c.1862G>C (p.Trp621Ser) c.518G>C (p.Trp173Ser) c.3877G>C c.4919G>C (p.Trp1640Ser) c.4373G>C (p.Trp1458Ser) c.4307-4275G>C (n.4307-4275G>C) n.237G>C n.253-4275G>C n.40-4275G>C c.606G>C c.4646G>C (p.Trp1549Ser) c.4034-4275G>C (n.4034-4275G>C) c.3281G>C (p.Trp1094Ser) c.5195G>C (p.Trp1732Ser) c.3488-4275G>C (n.3488-4275G>C) c.4922G>C (p.Trp1641Ser) c.4376G>C (p.Trp1459Ser) c.4580-4275G>C (n.4580-4275G>C) c.4103G>C (p.Trp1368Ser) c.3761-4275G>C (n.3761-4275G>C) c.3554G>C (p.Trp1185Ser) c.5468G>C (p.Trp1823Ser) c.5192G>C (p.Trp1731Ser) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.115046616C>T | CA374631274 | TNC | c.318-4275G>A c.3215-4275G>A (n.3215-4275G>A) c.3830G>A (p.Trp1277Ter) c.1862G>A (p.Trp621Ter) c.518G>A (p.Trp173Ter) c.3877G>A c.4919G>A (p.Trp1640Ter) c.4373G>A (p.Trp1458Ter) c.4307-4275G>A (n.4307-4275G>A) n.237G>A n.253-4275G>A n.40-4275G>A c.606G>A c.4646G>A (p.Trp1549Ter) c.4034-4275G>A (n.4034-4275G>A) c.3281G>A (p.Trp1094Ter) c.5195G>A (p.Trp1732Ter) c.3488-4275G>A (n.3488-4275G>A) c.4922G>A (p.Trp1641Ter) c.4376G>A (p.Trp1459Ter) c.4580-4275G>A (n.4580-4275G>A) c.4103G>A (p.Trp1368Ter) c.3761-4275G>A (n.3761-4275G>A) c.3554G>A (p.Trp1185Ter) c.5468G>A (p.Trp1823Ter) c.5192G>A (p.Trp1731Ter) | gnomAD v4 |
9 | g.115046617A= | CA1874118941 | TNC | c.318-4276T= c.3215-4276T= (n.3215-4276T=) c.3829T= (p.Trp1277=) c.1861T= (p.Trp621=) c.517T= (p.Trp173=) c.3876T= c.4918T= (p.Trp1640=) c.4372T= (p.Trp1458=) c.4307-4276T= (n.4307-4276T=) n.236T= n.253-4276T= n.40-4276T= c.605T= c.4645T= (p.Trp1549=) c.4034-4276T= (n.4034-4276T=) c.3280T= (p.Trp1094=) c.5194T= (p.Trp1732=) c.3488-4276T= (n.3488-4276T=) c.4921T= (p.Trp1641=) c.4375T= (p.Trp1459=) c.4580-4276T= (n.4580-4276T=) c.4102T= (p.Trp1368=) c.3761-4276T= (n.3761-4276T=) c.3553T= (p.Trp1185=) c.5467T= (p.Trp1823=) c.5191T= (p.Trp1731=) | |
9 | g.115046617A>C | CA374631280 | TNC | c.318-4276T>G c.3215-4276T>G (n.3215-4276T>G) c.3829T>G (p.Trp1277Gly) c.1861T>G (p.Trp621Gly) c.517T>G (p.Trp173Gly) c.3876T>G c.4918T>G (p.Trp1640Gly) c.4372T>G (p.Trp1458Gly) c.4307-4276T>G (n.4307-4276T>G) n.236T>G n.253-4276T>G n.40-4276T>G c.605T>G c.4645T>G (p.Trp1549Gly) c.4034-4276T>G (n.4034-4276T>G) c.3280T>G (p.Trp1094Gly) c.5194T>G (p.Trp1732Gly) c.3488-4276T>G (n.3488-4276T>G) c.4921T>G (p.Trp1641Gly) c.4375T>G (p.Trp1459Gly) c.4580-4276T>G (n.4580-4276T>G) c.4102T>G (p.Trp1368Gly) c.3761-4276T>G (n.3761-4276T>G) c.3553T>G (p.Trp1185Gly) c.5467T>G (p.Trp1823Gly) c.5191T>G (p.Trp1731Gly) | dbSNP |
9 | g.115046617A>G | CA374631282 | TNC | c.318-4276T>C c.3215-4276T>C (n.3215-4276T>C) c.3829T>C (p.Trp1277Arg) c.1861T>C (p.Trp621Arg) c.517T>C (p.Trp173Arg) c.3876T>C c.4918T>C (p.Trp1640Arg) c.4372T>C (p.Trp1458Arg) c.4307-4276T>C (n.4307-4276T>C) n.236T>C n.253-4276T>C n.40-4276T>C c.605T>C c.4645T>C (p.Trp1549Arg) c.4034-4276T>C (n.4034-4276T>C) c.3280T>C (p.Trp1094Arg) c.5194T>C (p.Trp1732Arg) c.3488-4276T>C (n.3488-4276T>C) c.4921T>C (p.Trp1641Arg) c.4375T>C (p.Trp1459Arg) c.4580-4276T>C (n.4580-4276T>C) c.4102T>C (p.Trp1368Arg) c.3761-4276T>C (n.3761-4276T>C) c.3553T>C (p.Trp1185Arg) c.5467T>C (p.Trp1823Arg) c.5191T>C (p.Trp1731Arg) | |
9 | g.115046617A>T | CA374631283 | TNC | c.318-4276T>A c.3215-4276T>A (n.3215-4276T>A) c.3829T>A (p.Trp1277Arg) c.1861T>A (p.Trp621Arg) c.517T>A (p.Trp173Arg) c.3876T>A c.4918T>A (p.Trp1640Arg) c.4372T>A (p.Trp1458Arg) c.4307-4276T>A (n.4307-4276T>A) n.236T>A n.253-4276T>A n.40-4276T>A c.605T>A c.4645T>A (p.Trp1549Arg) c.4034-4276T>A (n.4034-4276T>A) c.3280T>A (p.Trp1094Arg) c.5194T>A (p.Trp1732Arg) c.3488-4276T>A (n.3488-4276T>A) c.4921T>A (p.Trp1641Arg) c.4375T>A (p.Trp1459Arg) c.4580-4276T>A (n.4580-4276T>A) c.4102T>A (p.Trp1368Arg) c.3761-4276T>A (n.3761-4276T>A) c.3553T>A (p.Trp1185Arg) c.5467T>A (p.Trp1823Arg) c.5191T>A (p.Trp1731Arg) | |
9 | g.115046618G>A | CA466912545 | TNC | c.318-4277C>T c.3215-4277C>T (n.3215-4277C>T) c.3828C>T (p.Ser1276=) c.1860C>T (p.Ser620=) c.516C>T (p.Ser172=) c.3875C>T c.4917C>T (p.Ser1639=) c.4371C>T (p.Ser1457=) c.4307-4277C>T (n.4307-4277C>T) n.235C>T n.253-4277C>T n.40-4277C>T c.604C>T c.4644C>T (p.Ser1548=) c.4034-4277C>T (n.4034-4277C>T) c.3279C>T (p.Ser1093=) c.5193C>T (p.Ser1731=) c.3488-4277C>T (n.3488-4277C>T) c.4920C>T (p.Ser1640=) c.4374C>T (p.Ser1458=) c.4580-4277C>T (n.4580-4277C>T) c.4101C>T (p.Ser1367=) c.3761-4277C>T (n.3761-4277C>T) c.3552C>T (p.Ser1184=) c.5466C>T (p.Ser1822=) c.5190C>T (p.Ser1730=) | |
9 | g.115046618G>C | CA466912546 | TNC | c.318-4277C>G c.3215-4277C>G (n.3215-4277C>G) c.3828C>G (p.Ser1276=) c.1860C>G (p.Ser620=) c.516C>G (p.Ser172=) c.3875C>G c.4917C>G (p.Ser1639=) c.4371C>G (p.Ser1457=) c.4307-4277C>G (n.4307-4277C>G) n.235C>G n.253-4277C>G n.40-4277C>G c.604C>G c.4644C>G (p.Ser1548=) c.4034-4277C>G (n.4034-4277C>G) c.3279C>G (p.Ser1093=) c.5193C>G (p.Ser1731=) c.3488-4277C>G (n.3488-4277C>G) c.4920C>G (p.Ser1640=) c.4374C>G (p.Ser1458=) c.4580-4277C>G (n.4580-4277C>G) c.4101C>G (p.Ser1367=) c.3761-4277C>G (n.3761-4277C>G) c.3552C>G (p.Ser1184=) c.5466C>G (p.Ser1822=) c.5190C>G (p.Ser1730=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.115046618G= | CA1874118942 | TNC | c.318-4277C= c.3215-4277C= (n.3215-4277C=) c.3828C= (p.Ser1276=) c.1860C= (p.Ser620=) c.516C= (p.Ser172=) c.3875C= c.4917C= (p.Ser1639=) c.4371C= (p.Ser1457=) c.4307-4277C= (n.4307-4277C=) n.235C= n.253-4277C= n.40-4277C= c.604C= c.4644C= (p.Ser1548=) c.4034-4277C= (n.4034-4277C=) c.3279C= (p.Ser1093=) c.5193C= (p.Ser1731=) c.3488-4277C= (n.3488-4277C=) c.4920C= (p.Ser1640=) c.4374C= (p.Ser1458=) c.4580-4277C= (n.4580-4277C=) c.4101C= (p.Ser1367=) c.3761-4277C= (n.3761-4277C=) c.3552C= (p.Ser1184=) c.5466C= (p.Ser1822=) c.5190C= (p.Ser1730=) | |
9 | g.115046618G>T | CA466912547 | TNC | c.318-4277C>A c.3215-4277C>A (n.3215-4277C>A) c.3828C>A (p.Ser1276=) c.1860C>A (p.Ser620=) c.516C>A (p.Ser172=) c.3875C>A c.4917C>A (p.Ser1639=) c.4371C>A (p.Ser1457=) c.4307-4277C>A (n.4307-4277C>A) n.235C>A n.253-4277C>A n.40-4277C>A c.604C>A c.4644C>A (p.Ser1548=) c.4034-4277C>A (n.4034-4277C>A) c.3279C>A (p.Ser1093=) c.5193C>A (p.Ser1731=) c.3488-4277C>A (n.3488-4277C>A) c.4920C>A (p.Ser1640=) c.4374C>A (p.Ser1458=) c.4580-4277C>A (n.4580-4277C>A) c.4101C>A (p.Ser1367=) c.3761-4277C>A (n.3761-4277C>A) c.3552C>A (p.Ser1184=) c.5466C>A (p.Ser1822=) c.5190C>A (p.Ser1730=) | dbSNP |
9 | g.115046619G>A | CA374631285 | TNC | c.318-4278C>T c.3215-4278C>T (n.3215-4278C>T) c.3827C>T (p.Ser1276Phe) c.1859C>T (p.Ser620Phe) c.515C>T (p.Ser172Phe) c.3874C>T c.4916C>T (p.Ser1639Phe) c.4370C>T (p.Ser1457Phe) c.4307-4278C>T (n.4307-4278C>T) n.234C>T n.253-4278C>T n.40-4278C>T c.603C>T c.4643C>T (p.Ser1548Phe) c.4034-4278C>T (n.4034-4278C>T) c.3278C>T (p.Ser1093Phe) c.5192C>T (p.Ser1731Phe) c.3488-4278C>T (n.3488-4278C>T) c.4919C>T (p.Ser1640Phe) c.4373C>T (p.Ser1458Phe) c.4580-4278C>T (n.4580-4278C>T) c.4100C>T (p.Ser1367Phe) c.3761-4278C>T (n.3761-4278C>T) c.3551C>T (p.Ser1184Phe) c.5465C>T (p.Ser1822Phe) c.5189C>T (p.Ser1730Phe) | gnomAD v4 |
9 | g.115046619G>C | CA374631286 | TNC | c.318-4278C>G c.3215-4278C>G (n.3215-4278C>G) c.3827C>G (p.Ser1276Cys) c.1859C>G (p.Ser620Cys) c.515C>G (p.Ser172Cys) c.3874C>G c.4916C>G (p.Ser1639Cys) c.4370C>G (p.Ser1457Cys) c.4307-4278C>G (n.4307-4278C>G) n.234C>G n.253-4278C>G n.40-4278C>G c.603C>G c.4643C>G (p.Ser1548Cys) c.4034-4278C>G (n.4034-4278C>G) c.3278C>G (p.Ser1093Cys) c.5192C>G (p.Ser1731Cys) c.3488-4278C>G (n.3488-4278C>G) c.4919C>G (p.Ser1640Cys) c.4373C>G (p.Ser1458Cys) c.4580-4278C>G (n.4580-4278C>G) c.4100C>G (p.Ser1367Cys) c.3761-4278C>G (n.3761-4278C>G) c.3551C>G (p.Ser1184Cys) c.5465C>G (p.Ser1822Cys) c.5189C>G (p.Ser1730Cys) | |
9 | g.115046619G>T | CA374631288 | TNC | c.318-4278C>A c.3215-4278C>A (n.3215-4278C>A) c.3827C>A (p.Ser1276Tyr) c.1859C>A (p.Ser620Tyr) c.515C>A (p.Ser172Tyr) c.3874C>A c.4916C>A (p.Ser1639Tyr) c.4370C>A (p.Ser1457Tyr) c.4307-4278C>A (n.4307-4278C>A) n.234C>A n.253-4278C>A n.40-4278C>A c.603C>A c.4643C>A (p.Ser1548Tyr) c.4034-4278C>A (n.4034-4278C>A) c.3278C>A (p.Ser1093Tyr) c.5192C>A (p.Ser1731Tyr) c.3488-4278C>A (n.3488-4278C>A) c.4919C>A (p.Ser1640Tyr) c.4373C>A (p.Ser1458Tyr) c.4580-4278C>A (n.4580-4278C>A) c.4100C>A (p.Ser1367Tyr) c.3761-4278C>A (n.3761-4278C>A) c.3551C>A (p.Ser1184Tyr) c.5465C>A (p.Ser1822Tyr) c.5189C>A (p.Ser1730Tyr) | |
9 | g.115046620A= | CA1874118943 | TNC | c.318-4279T= c.3215-4279T= (n.3215-4279T=) c.3826T= (p.Ser1276=) c.1858T= (p.Ser620=) c.514T= (p.Ser172=) c.3873T= c.4915T= (p.Ser1639=) c.4369T= (p.Ser1457=) c.4307-4279T= (n.4307-4279T=) n.233T= n.253-4279T= n.40-4279T= c.602T= c.4642T= (p.Ser1548=) c.4034-4279T= (n.4034-4279T=) c.3277T= (p.Ser1093=) c.5191T= (p.Ser1731=) c.3488-4279T= (n.3488-4279T=) c.4918T= (p.Ser1640=) c.4372T= (p.Ser1458=) c.4580-4279T= (n.4580-4279T=) c.4099T= (p.Ser1367=) c.3761-4279T= (n.3761-4279T=) c.3550T= (p.Ser1184=) c.5464T= (p.Ser1822=) c.5188T= (p.Ser1730=) | |
9 | g.115046620A>C | CA374631290 | TNC | c.318-4279T>G c.3215-4279T>G (n.3215-4279T>G) c.3826T>G (p.Ser1276Ala) c.1858T>G (p.Ser620Ala) c.514T>G (p.Ser172Ala) c.3873T>G c.4915T>G (p.Ser1639Ala) c.4369T>G (p.Ser1457Ala) c.4307-4279T>G (n.4307-4279T>G) n.233T>G n.253-4279T>G n.40-4279T>G c.602T>G c.4642T>G (p.Ser1548Ala) c.4034-4279T>G (n.4034-4279T>G) c.3277T>G (p.Ser1093Ala) c.5191T>G (p.Ser1731Ala) c.3488-4279T>G (n.3488-4279T>G) c.4918T>G (p.Ser1640Ala) c.4372T>G (p.Ser1458Ala) c.4580-4279T>G (n.4580-4279T>G) c.4099T>G (p.Ser1367Ala) c.3761-4279T>G (n.3761-4279T>G) c.3550T>G (p.Ser1184Ala) c.5464T>G (p.Ser1822Ala) c.5188T>G (p.Ser1730Ala) | |
9 | g.115046620A>G | CA5207788 | TNC | c.318-4279T>C c.3215-4279T>C (n.3215-4279T>C) c.3826T>C (p.Ser1276Pro) c.1858T>C (p.Ser620Pro) c.514T>C (p.Ser172Pro) c.3873T>C c.4915T>C (p.Ser1639Pro) c.4369T>C (p.Ser1457Pro) c.4307-4279T>C (n.4307-4279T>C) n.233T>C n.253-4279T>C n.40-4279T>C c.602T>C c.4642T>C (p.Ser1548Pro) c.4034-4279T>C (n.4034-4279T>C) c.3277T>C (p.Ser1093Pro) c.5191T>C (p.Ser1731Pro) c.3488-4279T>C (n.3488-4279T>C) c.4918T>C (p.Ser1640Pro) c.4372T>C (p.Ser1458Pro) c.4580-4279T>C (n.4580-4279T>C) c.4099T>C (p.Ser1367Pro) c.3761-4279T>C (n.3761-4279T>C) c.3550T>C (p.Ser1184Pro) c.5464T>C (p.Ser1822Pro) c.5188T>C (p.Ser1730Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.115046620A>T | CA374631292 | TNC | c.318-4279T>A c.3215-4279T>A (n.3215-4279T>A) c.3826T>A (p.Ser1276Thr) c.1858T>A (p.Ser620Thr) c.514T>A (p.Ser172Thr) c.3873T>A c.4915T>A (p.Ser1639Thr) c.4369T>A (p.Ser1457Thr) c.4307-4279T>A (n.4307-4279T>A) n.233T>A n.253-4279T>A n.40-4279T>A c.602T>A c.4642T>A (p.Ser1548Thr) c.4034-4279T>A (n.4034-4279T>A) c.3277T>A (p.Ser1093Thr) c.5191T>A (p.Ser1731Thr) c.3488-4279T>A (n.3488-4279T>A) c.4918T>A (p.Ser1640Thr) c.4372T>A (p.Ser1458Thr) c.4580-4279T>A (n.4580-4279T>A) c.4099T>A (p.Ser1367Thr) c.3761-4279T>A (n.3761-4279T>A) c.3550T>A (p.Ser1184Thr) c.5464T>A (p.Ser1822Thr) c.5188T>A (p.Ser1730Thr) | |
9 | g.115046621C>A | CA466912550 | TNC | c.318-4280G>T c.3215-4280G>T (n.3215-4280G>T) c.3825G>T (p.Leu1275=) c.1857G>T (p.Leu619=) c.513G>T (p.Leu171=) c.3872G>T c.4914G>T (p.Leu1638=) c.4368G>T (p.Leu1456=) c.4307-4280G>T (n.4307-4280G>T) n.232G>T n.253-4280G>T n.40-4280G>T c.601G>T c.4641G>T (p.Leu1547=) c.4034-4280G>T (n.4034-4280G>T) c.3276G>T (p.Leu1092=) c.5190G>T (p.Leu1730=) c.3488-4280G>T (n.3488-4280G>T) c.4917G>T (p.Leu1639=) c.4371G>T (p.Leu1457=) c.4580-4280G>T (n.4580-4280G>T) c.4098G>T (p.Leu1366=) c.3761-4280G>T (n.3761-4280G>T) c.3549G>T (p.Leu1183=) c.5463G>T (p.Leu1821=) c.5187G>T (p.Leu1729=) | |
9 | g.115046621C= | CA1874118944 | TNC | c.318-4280G= c.3215-4280G= (n.3215-4280G=) c.3825G= (p.Leu1275=) c.1857G= (p.Leu619=) c.513G= (p.Leu171=) c.3872G= c.4914G= (p.Leu1638=) c.4368G= (p.Leu1456=) c.4307-4280G= (n.4307-4280G=) n.232G= n.253-4280G= n.40-4280G= c.601G= c.4641G= (p.Leu1547=) c.4034-4280G= (n.4034-4280G=) c.3276G= (p.Leu1092=) c.5190G= (p.Leu1730=) c.3488-4280G= (n.3488-4280G=) c.4917G= (p.Leu1639=) c.4371G= (p.Leu1457=) c.4580-4280G= (n.4580-4280G=) c.4098G= (p.Leu1366=) c.3761-4280G= (n.3761-4280G=) c.3549G= (p.Leu1183=) c.5463G= (p.Leu1821=) c.5187G= (p.Leu1729=) | |
9 | g.115046621C>G | CA466912551 | TNC | c.318-4280G>C c.3215-4280G>C (n.3215-4280G>C) c.3825G>C (p.Leu1275=) c.1857G>C (p.Leu619=) c.513G>C (p.Leu171=) c.3872G>C c.4914G>C (p.Leu1638=) c.4368G>C (p.Leu1456=) c.4307-4280G>C (n.4307-4280G>C) n.232G>C n.253-4280G>C n.40-4280G>C c.601G>C c.4641G>C (p.Leu1547=) c.4034-4280G>C (n.4034-4280G>C) c.3276G>C (p.Leu1092=) c.5190G>C (p.Leu1730=) c.3488-4280G>C (n.3488-4280G>C) c.4917G>C (p.Leu1639=) c.4371G>C (p.Leu1457=) c.4580-4280G>C (n.4580-4280G>C) c.4098G>C (p.Leu1366=) c.3761-4280G>C (n.3761-4280G>C) c.3549G>C (p.Leu1183=) c.5463G>C (p.Leu1821=) c.5187G>C (p.Leu1729=) | |
9 | g.115046621C>T | CA5207789 | TNC | c.318-4280G>A c.3215-4280G>A (n.3215-4280G>A) c.3825G>A (p.Leu1275=) c.1857G>A (p.Leu619=) c.513G>A (p.Leu171=) c.3872G>A c.4914G>A (p.Leu1638=) c.4368G>A (p.Leu1456=) c.4307-4280G>A (n.4307-4280G>A) n.232G>A n.253-4280G>A n.40-4280G>A c.601G>A c.4641G>A (p.Leu1547=) c.4034-4280G>A (n.4034-4280G>A) c.3276G>A (p.Leu1092=) c.5190G>A (p.Leu1730=) c.3488-4280G>A (n.3488-4280G>A) c.4917G>A (p.Leu1639=) c.4371G>A (p.Leu1457=) c.4580-4280G>A (n.4580-4280G>A) c.4098G>A (p.Leu1366=) c.3761-4280G>A (n.3761-4280G>A) c.3549G>A (p.Leu1183=) c.5463G>A (p.Leu1821=) c.5187G>A (p.Leu1729=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.115046622A>C | CA374631294 | TNC | c.318-4281T>G c.3215-4281T>G (n.3215-4281T>G) c.3824T>G (p.Leu1275Arg) c.1856T>G (p.Leu619Arg) c.512T>G (p.Leu171Arg) c.3871T>G c.4913T>G (p.Leu1638Arg) c.4367T>G (p.Leu1456Arg) c.4307-4281T>G (n.4307-4281T>G) n.231T>G n.253-4281T>G n.40-4281T>G c.600T>G c.4640T>G (p.Leu1547Arg) c.4034-4281T>G (n.4034-4281T>G) c.3275T>G (p.Leu1092Arg) c.5189T>G (p.Leu1730Arg) c.3488-4281T>G (n.3488-4281T>G) c.4916T>G (p.Leu1639Arg) c.4370T>G (p.Leu1457Arg) c.4580-4281T>G (n.4580-4281T>G) c.4097T>G (p.Leu1366Arg) c.3761-4281T>G (n.3761-4281T>G) c.3548T>G (p.Leu1183Arg) c.5462T>G (p.Leu1821Arg) c.5186T>G (p.Leu1729Arg) | |
9 | g.115046622A>G | CA374631295 | TNC | c.318-4281T>C c.3215-4281T>C (n.3215-4281T>C) c.3824T>C (p.Leu1275Pro) c.1856T>C (p.Leu619Pro) c.512T>C (p.Leu171Pro) c.3871T>C c.4913T>C (p.Leu1638Pro) c.4367T>C (p.Leu1456Pro) c.4307-4281T>C (n.4307-4281T>C) n.231T>C n.253-4281T>C n.40-4281T>C c.600T>C c.4640T>C (p.Leu1547Pro) c.4034-4281T>C (n.4034-4281T>C) c.3275T>C (p.Leu1092Pro) c.5189T>C (p.Leu1730Pro) c.3488-4281T>C (n.3488-4281T>C) c.4916T>C (p.Leu1639Pro) c.4370T>C (p.Leu1457Pro) c.4580-4281T>C (n.4580-4281T>C) c.4097T>C (p.Leu1366Pro) c.3761-4281T>C (n.3761-4281T>C) c.3548T>C (p.Leu1183Pro) c.5462T>C (p.Leu1821Pro) c.5186T>C (p.Leu1729Pro) | |
9 | g.115046622A>T | CA374631297 | TNC | c.318-4281T>A c.3215-4281T>A (n.3215-4281T>A) c.3824T>A (p.Leu1275Gln) c.1856T>A (p.Leu619Gln) c.512T>A (p.Leu171Gln) c.3871T>A c.4913T>A (p.Leu1638Gln) c.4367T>A (p.Leu1456Gln) c.4307-4281T>A (n.4307-4281T>A) n.231T>A n.253-4281T>A n.40-4281T>A c.600T>A c.4640T>A (p.Leu1547Gln) c.4034-4281T>A (n.4034-4281T>A) c.3275T>A (p.Leu1092Gln) c.5189T>A (p.Leu1730Gln) c.3488-4281T>A (n.3488-4281T>A) c.4916T>A (p.Leu1639Gln) c.4370T>A (p.Leu1457Gln) c.4580-4281T>A (n.4580-4281T>A) c.4097T>A (p.Leu1366Gln) c.3761-4281T>A (n.3761-4281T>A) c.3548T>A (p.Leu1183Gln) c.5462T>A (p.Leu1821Gln) c.5186T>A (p.Leu1729Gln) | |
9 | g.115046623G>A | CA466912552 | TNC | c.318-4282C>T c.3215-4282C>T (n.3215-4282C>T) c.3823C>T (p.Leu1275=) c.1855C>T (p.Leu619=) c.511C>T (p.Leu171=) c.3870C>T c.4912C>T (p.Leu1638=) c.4366C>T (p.Leu1456=) c.4307-4282C>T (n.4307-4282C>T) n.230C>T n.253-4282C>T n.40-4282C>T c.599C>T c.4639C>T (p.Leu1547=) c.4034-4282C>T (n.4034-4282C>T) c.3274C>T (p.Leu1092=) c.5188C>T (p.Leu1730=) c.3488-4282C>T (n.3488-4282C>T) c.4915C>T (p.Leu1639=) c.4369C>T (p.Leu1457=) c.4580-4282C>T (n.4580-4282C>T) c.4096C>T (p.Leu1366=) c.3761-4282C>T (n.3761-4282C>T) c.3547C>T (p.Leu1183=) c.5461C>T (p.Leu1821=) c.5185C>T (p.Leu1729=) | |
9 | g.115046623G>C | CA374631299 | TNC | c.318-4282C>G c.3215-4282C>G (n.3215-4282C>G) c.3823C>G (p.Leu1275Val) c.1855C>G (p.Leu619Val) c.511C>G (p.Leu171Val) c.3870C>G c.4912C>G (p.Leu1638Val) c.4366C>G (p.Leu1456Val) c.4307-4282C>G (n.4307-4282C>G) n.230C>G n.253-4282C>G n.40-4282C>G c.599C>G c.4639C>G (p.Leu1547Val) c.4034-4282C>G (n.4034-4282C>G) c.3274C>G (p.Leu1092Val) c.5188C>G (p.Leu1730Val) c.3488-4282C>G (n.3488-4282C>G) c.4915C>G (p.Leu1639Val) c.4369C>G (p.Leu1457Val) c.4580-4282C>G (n.4580-4282C>G) c.4096C>G (p.Leu1366Val) c.3761-4282C>G (n.3761-4282C>G) c.3547C>G (p.Leu1183Val) c.5461C>G (p.Leu1821Val) c.5185C>G (p.Leu1729Val) | COSMIC |
9 | g.115046623G>T | CA374631300 | TNC | c.318-4282C>A c.3215-4282C>A (n.3215-4282C>A) c.3823C>A (p.Leu1275Met) c.1855C>A (p.Leu619Met) c.511C>A (p.Leu171Met) c.3870C>A c.4912C>A (p.Leu1638Met) c.4366C>A (p.Leu1456Met) c.4307-4282C>A (n.4307-4282C>A) n.230C>A n.253-4282C>A n.40-4282C>A c.599C>A c.4639C>A (p.Leu1547Met) c.4034-4282C>A (n.4034-4282C>A) c.3274C>A (p.Leu1092Met) c.5188C>A (p.Leu1730Met) c.3488-4282C>A (n.3488-4282C>A) c.4915C>A (p.Leu1639Met) c.4369C>A (p.Leu1457Met) c.4580-4282C>A (n.4580-4282C>A) c.4096C>A (p.Leu1366Met) c.3761-4282C>A (n.3761-4282C>A) c.3547C>A (p.Leu1183Met) c.5461C>A (p.Leu1821Met) c.5185C>A (p.Leu1729Met) | |
9 | g.115046624A>C | CA466912553 | TNC | c.318-4283T>G c.3215-4283T>G (n.3215-4283T>G) c.3822T>G (p.Arg1274=) c.1854T>G (p.Arg618=) c.510T>G (p.Arg170=) c.3869T>G c.4911T>G (p.Arg1637=) c.4365T>G (p.Arg1455=) c.4307-4283T>G (n.4307-4283T>G) n.229T>G n.253-4283T>G n.40-4283T>G c.598T>G c.69T>G (p.Arg23=) c.4638T>G (p.Arg1546=) c.4034-4283T>G (n.4034-4283T>G) c.3273T>G (p.Arg1091=) c.5187T>G (p.Arg1729=) c.3488-4283T>G (n.3488-4283T>G) c.4914T>G (p.Arg1638=) c.4368T>G (p.Arg1456=) c.4580-4283T>G (n.4580-4283T>G) c.4095T>G (p.Arg1365=) c.3761-4283T>G (n.3761-4283T>G) c.3546T>G (p.Arg1182=) c.5460T>G (p.Arg1820=) c.5184T>G (p.Arg1728=) | |
9 | g.115046624A>G | CA466912554 | TNC | c.318-4283T>C c.3215-4283T>C (n.3215-4283T>C) c.3822T>C (p.Arg1274=) c.1854T>C (p.Arg618=) c.510T>C (p.Arg170=) c.3869T>C c.4911T>C (p.Arg1637=) c.4365T>C (p.Arg1455=) c.4307-4283T>C (n.4307-4283T>C) n.229T>C n.253-4283T>C n.40-4283T>C c.598T>C c.69T>C (p.Arg23=) c.4638T>C (p.Arg1546=) c.4034-4283T>C (n.4034-4283T>C) c.3273T>C (p.Arg1091=) c.5187T>C (p.Arg1729=) c.3488-4283T>C (n.3488-4283T>C) c.4914T>C (p.Arg1638=) c.4368T>C (p.Arg1456=) c.4580-4283T>C (n.4580-4283T>C) c.4095T>C (p.Arg1365=) c.3761-4283T>C (n.3761-4283T>C) c.3546T>C (p.Arg1182=) c.5460T>C (p.Arg1820=) c.5184T>C (p.Arg1728=) | gnomAD v4 |
9 | g.115046624A>T | CA466912555 | TNC | c.318-4283T>A c.3215-4283T>A (n.3215-4283T>A) c.3822T>A (p.Arg1274=) c.1854T>A (p.Arg618=) c.510T>A (p.Arg170=) c.3869T>A c.4911T>A (p.Arg1637=) c.4365T>A (p.Arg1455=) c.4307-4283T>A (n.4307-4283T>A) n.229T>A n.253-4283T>A n.40-4283T>A c.598T>A c.69T>A (p.Arg23=) c.4638T>A (p.Arg1546=) c.4034-4283T>A (n.4034-4283T>A) c.3273T>A (p.Arg1091=) c.5187T>A (p.Arg1729=) c.3488-4283T>A (n.3488-4283T>A) c.4914T>A (p.Arg1638=) c.4368T>A (p.Arg1456=) c.4580-4283T>A (n.4580-4283T>A) c.4095T>A (p.Arg1365=) c.3761-4283T>A (n.3761-4283T>A) c.3546T>A (p.Arg1182=) c.5460T>A (p.Arg1820=) c.5184T>A (p.Arg1728=) | |
9 | g.115046625C>A | CA374631302 | TNC | c.318-4284G>T c.3215-4284G>T (n.3215-4284G>T) c.3821G>T (p.Arg1274Leu) c.1853G>T (p.Arg618Leu) c.509G>T (p.Arg170Leu) c.3868G>T c.4910G>T (p.Arg1637Leu) c.4364G>T (p.Arg1455Leu) c.4307-4284G>T (n.4307-4284G>T) n.228G>T n.253-4284G>T n.40-4284G>T c.597G>T c.68G>T (p.Arg23Leu) c.4637G>T (p.Arg1546Leu) c.4034-4284G>T (n.4034-4284G>T) c.3272G>T (p.Arg1091Leu) c.5186G>T (p.Arg1729Leu) c.3488-4284G>T (n.3488-4284G>T) c.4913G>T (p.Arg1638Leu) c.4367G>T (p.Arg1456Leu) c.4580-4284G>T (n.4580-4284G>T) c.4094G>T (p.Arg1365Leu) c.3761-4284G>T (n.3761-4284G>T) c.3545G>T (p.Arg1182Leu) c.5459G>T (p.Arg1820Leu) c.5183G>T (p.Arg1728Leu) | |
9 | g.115046625C= | CA1874118945 | TNC | c.318-4284G= c.3215-4284G= (n.3215-4284G=) c.3821G= (p.Arg1274=) c.1853G= (p.Arg618=) c.509G= (p.Arg170=) c.3868G= c.4910G= (p.Arg1637=) c.4364G= (p.Arg1455=) c.4307-4284G= (n.4307-4284G=) n.228G= n.253-4284G= n.40-4284G= c.597G= c.68G= (p.Arg23=) c.4637G= (p.Arg1546=) c.4034-4284G= (n.4034-4284G=) c.3272G= (p.Arg1091=) c.5186G= (p.Arg1729=) c.3488-4284G= (n.3488-4284G=) c.4913G= (p.Arg1638=) c.4367G= (p.Arg1456=) c.4580-4284G= (n.4580-4284G=) c.4094G= (p.Arg1365=) c.3761-4284G= (n.3761-4284G=) c.3545G= (p.Arg1182=) c.5459G= (p.Arg1820=) c.5183G= (p.Arg1728=) | |
9 | g.115046625C>G | CA374631304 | TNC | c.318-4284G>C c.3215-4284G>C (n.3215-4284G>C) c.3821G>C (p.Arg1274Pro) c.1853G>C (p.Arg618Pro) c.509G>C (p.Arg170Pro) c.3868G>C c.4910G>C (p.Arg1637Pro) c.4364G>C (p.Arg1455Pro) c.4307-4284G>C (n.4307-4284G>C) n.228G>C n.253-4284G>C n.40-4284G>C c.597G>C c.68G>C (p.Arg23Pro) c.4637G>C (p.Arg1546Pro) c.4034-4284G>C (n.4034-4284G>C) c.3272G>C (p.Arg1091Pro) c.5186G>C (p.Arg1729Pro) c.3488-4284G>C (n.3488-4284G>C) c.4913G>C (p.Arg1638Pro) c.4367G>C (p.Arg1456Pro) c.4580-4284G>C (n.4580-4284G>C) c.4094G>C (p.Arg1365Pro) c.3761-4284G>C (n.3761-4284G>C) c.3545G>C (p.Arg1182Pro) c.5459G>C (p.Arg1820Pro) c.5183G>C (p.Arg1728Pro) | |
9 | g.115046625C>T | CA198692731 | TNC | c.318-4284G>A c.3215-4284G>A (n.3215-4284G>A) c.3821G>A (p.Arg1274His) c.1853G>A (p.Arg618His) c.509G>A (p.Arg170His) c.3868G>A c.4910G>A (p.Arg1637His) c.4364G>A (p.Arg1455His) c.4307-4284G>A (n.4307-4284G>A) n.228G>A n.253-4284G>A n.40-4284G>A c.597G>A c.68G>A (p.Arg23His) c.4637G>A (p.Arg1546His) c.4034-4284G>A (n.4034-4284G>A) c.3272G>A (p.Arg1091His) c.5186G>A (p.Arg1729His) c.3488-4284G>A (n.3488-4284G>A) c.4913G>A (p.Arg1638His) c.4367G>A (p.Arg1456His) c.4580-4284G>A (n.4580-4284G>A) c.4094G>A (p.Arg1365His) c.3761-4284G>A (n.3761-4284G>A) c.3545G>A (p.Arg1182His) c.5459G>A (p.Arg1820His) c.5183G>A (p.Arg1728His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.115046628_115046674del | CA2691393498 | TNC | c.318-4330_318-4284del c.3215-4330_3215-4284del (n.3215-4330_3215-4284del) c.3775_3821del (p.Glu1259SerfsTer6) c.1807_1853del (p.Glu603SerfsTer6) c.463_509del (p.Glu155SerfsTer6) c.3822_3868del c.4864_4910del (p.Glu1622SerfsTer6) c.4318_4364del (p.Glu1440SerfsTer6) c.4307-4330_4307-4284del (n.4307-4330_4307-4284del) n.182_228del n.253-4330_253-4284del n.40-4330_40-4284del c.551_597del c.22_68del (p.Glu8=) c.4591_4637del (p.Glu1531SerfsTer6) c.4034-4330_4034-4284del (n.4034-4330_4034-4284del) c.3226_3272del (p.Glu1076SerfsTer6) c.5140_5186del (p.Glu1714SerfsTer6) c.3488-4330_3488-4284del (n.3488-4330_3488-4284del) c.4867_4913del (p.Glu1623SerfsTer6) c.4321_4367del (p.Glu1441SerfsTer6) c.4580-4330_4580-4284del (n.4580-4330_4580-4284del) c.4048_4094del (p.Glu1350SerfsTer6) c.3761-4330_3761-4284del (n.3761-4330_3761-4284del) c.3499_3545del (p.Glu1167SerfsTer6) c.5413_5459del (p.Glu1805SerfsTer6) c.5137_5183del (p.Glu1713SerfsTer6) | gnomAD v4 |
9 | g.115046626G>A | CA374631306 | TNC | c.318-4285C>T c.3215-4285C>T (n.3215-4285C>T) c.3820C>T (p.Arg1274Cys) c.1852C>T (p.Arg618Cys) c.508C>T (p.Arg170Cys) c.3867C>T c.4909C>T (p.Arg1637Cys) c.4363C>T (p.Arg1455Cys) c.4307-4285C>T (n.4307-4285C>T) n.227C>T n.253-4285C>T n.40-4285C>T c.596C>T c.67C>T (p.Arg23Cys) c.4636C>T (p.Arg1546Cys) c.4034-4285C>T (n.4034-4285C>T) c.3271C>T (p.Arg1091Cys) c.5185C>T (p.Arg1729Cys) c.3488-4285C>T (n.3488-4285C>T) c.4912C>T (p.Arg1638Cys) c.4366C>T (p.Arg1456Cys) c.4580-4285C>T (n.4580-4285C>T) c.4093C>T (p.Arg1365Cys) c.3761-4285C>T (n.3761-4285C>T) c.3544C>T (p.Arg1182Cys) c.5458C>T (p.Arg1820Cys) c.5182C>T (p.Arg1728Cys) | dbSNP gnomAD v4 |
9 | g.115046626G>C | CA374631309 | TNC | c.318-4285C>G c.3215-4285C>G (n.3215-4285C>G) c.3820C>G (p.Arg1274Gly) c.1852C>G (p.Arg618Gly) c.508C>G (p.Arg170Gly) c.3867C>G c.4909C>G (p.Arg1637Gly) c.4363C>G (p.Arg1455Gly) c.4307-4285C>G (n.4307-4285C>G) n.227C>G n.253-4285C>G n.40-4285C>G c.596C>G c.67C>G (p.Arg23Gly) c.4636C>G (p.Arg1546Gly) c.4034-4285C>G (n.4034-4285C>G) c.3271C>G (p.Arg1091Gly) c.5185C>G (p.Arg1729Gly) c.3488-4285C>G (n.3488-4285C>G) c.4912C>G (p.Arg1638Gly) c.4366C>G (p.Arg1456Gly) c.4580-4285C>G (n.4580-4285C>G) c.4093C>G (p.Arg1365Gly) c.3761-4285C>G (n.3761-4285C>G) c.3544C>G (p.Arg1182Gly) c.5458C>G (p.Arg1820Gly) c.5182C>G (p.Arg1728Gly) | |
9 | g.115046626G= | CA1874118946 | TNC | c.318-4285C= c.3215-4285C= (n.3215-4285C=) c.3820C= (p.Arg1274=) c.1852C= (p.Arg618=) c.508C= (p.Arg170=) c.3867C= c.4909C= (p.Arg1637=) c.4363C= (p.Arg1455=) c.4307-4285C= (n.4307-4285C=) n.227C= n.253-4285C= n.40-4285C= c.596C= c.67C= (p.Arg23=) c.4636C= (p.Arg1546=) c.4034-4285C= (n.4034-4285C=) c.3271C= (p.Arg1091=) c.5185C= (p.Arg1729=) c.3488-4285C= (n.3488-4285C=) c.4912C= (p.Arg1638=) c.4366C= (p.Arg1456=) c.4580-4285C= (n.4580-4285C=) c.4093C= (p.Arg1365=) c.3761-4285C= (n.3761-4285C=) c.3544C= (p.Arg1182=) c.5458C= (p.Arg1820=) c.5182C= (p.Arg1728=) | |
9 | g.115046626G>T | CA374631308 | TNC | c.318-4285C>A c.3215-4285C>A (n.3215-4285C>A) c.3820C>A (p.Arg1274Ser) c.1852C>A (p.Arg618Ser) c.508C>A (p.Arg170Ser) c.3867C>A c.4909C>A (p.Arg1637Ser) c.4363C>A (p.Arg1455Ser) c.4307-4285C>A (n.4307-4285C>A) n.227C>A n.253-4285C>A n.40-4285C>A c.596C>A c.67C>A (p.Arg23Ser) c.4636C>A (p.Arg1546Ser) c.4034-4285C>A (n.4034-4285C>A) c.3271C>A (p.Arg1091Ser) c.5185C>A (p.Arg1729Ser) c.3488-4285C>A (n.3488-4285C>A) c.4912C>A (p.Arg1638Ser) c.4366C>A (p.Arg1456Ser) c.4580-4285C>A (n.4580-4285C>A) c.4093C>A (p.Arg1365Ser) c.3761-4285C>A (n.3761-4285C>A) c.3544C>A (p.Arg1182Ser) c.5458C>A (p.Arg1820Ser) c.5182C>A (p.Arg1728Ser) | |
9 | g.115046627G>A | CA466912556 | TNC | c.318-4286C>T c.3215-4286C>T (n.3215-4286C>T) c.3819C>T (p.Phe1273=) c.1851C>T (p.Phe617=) c.507C>T (p.Phe169=) c.3866C>T c.4908C>T (p.Phe1636=) c.4362C>T (p.Phe1454=) c.4307-4286C>T (n.4307-4286C>T) n.226C>T n.253-4286C>T n.40-4286C>T c.595C>T c.66C>T (p.Phe22=) c.4635C>T (p.Phe1545=) c.4034-4286C>T (n.4034-4286C>T) c.3270C>T (p.Phe1090=) c.5184C>T (p.Phe1728=) c.3488-4286C>T (n.3488-4286C>T) c.4911C>T (p.Phe1637=) c.4365C>T (p.Phe1455=) c.4580-4286C>T (n.4580-4286C>T) c.4092C>T (p.Phe1364=) c.3761-4286C>T (n.3761-4286C>T) c.3543C>T (p.Phe1181=) c.5457C>T (p.Phe1819=) c.5181C>T (p.Phe1727=) | |
9 | g.115046627G>C | CA374631311 | TNC | c.318-4286C>G c.3215-4286C>G (n.3215-4286C>G) c.3819C>G (p.Phe1273Leu) c.1851C>G (p.Phe617Leu) c.507C>G (p.Phe169Leu) c.3866C>G c.4908C>G (p.Phe1636Leu) c.4362C>G (p.Phe1454Leu) c.4307-4286C>G (n.4307-4286C>G) n.226C>G n.253-4286C>G n.40-4286C>G c.595C>G c.66C>G (p.Phe22Leu) c.4635C>G (p.Phe1545Leu) c.4034-4286C>G (n.4034-4286C>G) c.3270C>G (p.Phe1090Leu) c.5184C>G (p.Phe1728Leu) c.3488-4286C>G (n.3488-4286C>G) c.4911C>G (p.Phe1637Leu) c.4365C>G (p.Phe1455Leu) c.4580-4286C>G (n.4580-4286C>G) c.4092C>G (p.Phe1364Leu) c.3761-4286C>G (n.3761-4286C>G) c.3543C>G (p.Phe1181Leu) c.5457C>G (p.Phe1819Leu) c.5181C>G (p.Phe1727Leu) | |
9 | g.115046627G= | CA1874118947 | TNC | c.318-4286C= c.3215-4286C= (n.3215-4286C=) c.3819C= (p.Phe1273=) c.1851C= (p.Phe617=) c.507C= (p.Phe169=) c.3866C= c.4908C= (p.Phe1636=) c.4362C= (p.Phe1454=) c.4307-4286C= (n.4307-4286C=) n.226C= n.253-4286C= n.40-4286C= c.595C= c.66C= (p.Phe22=) c.4635C= (p.Phe1545=) c.4034-4286C= (n.4034-4286C=) c.3270C= (p.Phe1090=) c.5184C= (p.Phe1728=) c.3488-4286C= (n.3488-4286C=) c.4911C= (p.Phe1637=) c.4365C= (p.Phe1455=) c.4580-4286C= (n.4580-4286C=) c.4092C= (p.Phe1364=) c.3761-4286C= (n.3761-4286C=) c.3543C= (p.Phe1181=) c.5457C= (p.Phe1819=) c.5181C= (p.Phe1727=) | |
9 | g.115046627G>T | CA198692732 | TNC | c.318-4286C>A c.3215-4286C>A (n.3215-4286C>A) c.3819C>A (p.Phe1273Leu) c.1851C>A (p.Phe617Leu) c.507C>A (p.Phe169Leu) c.3866C>A c.4908C>A (p.Phe1636Leu) c.4362C>A (p.Phe1454Leu) c.4307-4286C>A (n.4307-4286C>A) n.226C>A n.253-4286C>A n.40-4286C>A c.595C>A c.66C>A (p.Phe22Leu) c.4635C>A (p.Phe1545Leu) c.4034-4286C>A (n.4034-4286C>A) c.3270C>A (p.Phe1090Leu) c.5184C>A (p.Phe1728Leu) c.3488-4286C>A (n.3488-4286C>A) c.4911C>A (p.Phe1637Leu) c.4365C>A (p.Phe1455Leu) c.4580-4286C>A (n.4580-4286C>A) c.4092C>A (p.Phe1364Leu) c.3761-4286C>A (n.3761-4286C>A) c.3543C>A (p.Phe1181Leu) c.5457C>A (p.Phe1819Leu) c.5181C>A (p.Phe1727Leu) | dbSNP |
9 | g.115046628A>C | CA374631313 | TNC | c.318-4287T>G c.3215-4287T>G (n.3215-4287T>G) c.3818T>G (p.Phe1273Cys) c.1850T>G (p.Phe617Cys) c.506T>G (p.Phe169Cys) c.3865T>G c.4907T>G (p.Phe1636Cys) c.4361T>G (p.Phe1454Cys) c.4307-4287T>G (n.4307-4287T>G) n.225T>G n.253-4287T>G n.40-4287T>G c.594T>G c.65T>G (p.Phe22Cys) c.4634T>G (p.Phe1545Cys) c.4034-4287T>G (n.4034-4287T>G) c.3269T>G (p.Phe1090Cys) c.5183T>G (p.Phe1728Cys) c.3488-4287T>G (n.3488-4287T>G) c.4910T>G (p.Phe1637Cys) c.4364T>G (p.Phe1455Cys) c.4580-4287T>G (n.4580-4287T>G) c.4091T>G (p.Phe1364Cys) c.3761-4287T>G (n.3761-4287T>G) c.3542T>G (p.Phe1181Cys) c.5456T>G (p.Phe1819Cys) c.5180T>G (p.Phe1727Cys) | |
9 | g.115046628A>G | CA374631315 | TNC | c.318-4287T>C c.3215-4287T>C (n.3215-4287T>C) c.3818T>C (p.Phe1273Ser) c.1850T>C (p.Phe617Ser) c.506T>C (p.Phe169Ser) c.3865T>C c.4907T>C (p.Phe1636Ser) c.4361T>C (p.Phe1454Ser) c.4307-4287T>C (n.4307-4287T>C) n.225T>C n.253-4287T>C n.40-4287T>C c.594T>C c.65T>C (p.Phe22Ser) c.4634T>C (p.Phe1545Ser) c.4034-4287T>C (n.4034-4287T>C) c.3269T>C (p.Phe1090Ser) c.5183T>C (p.Phe1728Ser) c.3488-4287T>C (n.3488-4287T>C) c.4910T>C (p.Phe1637Ser) c.4364T>C (p.Phe1455Ser) c.4580-4287T>C (n.4580-4287T>C) c.4091T>C (p.Phe1364Ser) c.3761-4287T>C (n.3761-4287T>C) c.3542T>C (p.Phe1181Ser) c.5456T>C (p.Phe1819Ser) c.5180T>C (p.Phe1727Ser) | |
9 | g.115046628A>T | CA374631317 | TNC | c.318-4287T>A c.3215-4287T>A (n.3215-4287T>A) c.3818T>A (p.Phe1273Tyr) c.1850T>A (p.Phe617Tyr) c.506T>A (p.Phe169Tyr) c.3865T>A c.4907T>A (p.Phe1636Tyr) c.4361T>A (p.Phe1454Tyr) c.4307-4287T>A (n.4307-4287T>A) n.225T>A n.253-4287T>A n.40-4287T>A c.594T>A c.65T>A (p.Phe22Tyr) c.4634T>A (p.Phe1545Tyr) c.4034-4287T>A (n.4034-4287T>A) c.3269T>A (p.Phe1090Tyr) c.5183T>A (p.Phe1728Tyr) c.3488-4287T>A (n.3488-4287T>A) c.4910T>A (p.Phe1637Tyr) c.4364T>A (p.Phe1455Tyr) c.4580-4287T>A (n.4580-4287T>A) c.4091T>A (p.Phe1364Tyr) c.3761-4287T>A (n.3761-4287T>A) c.3542T>A (p.Phe1181Tyr) c.5456T>A (p.Phe1819Tyr) c.5180T>A (p.Phe1727Tyr) | |
9 | g.115046629A>C | CA374631318 | TNC | c.318-4288T>G c.3215-4288T>G (n.3215-4288T>G) c.3817T>G (p.Phe1273Val) c.1849T>G (p.Phe617Val) c.505T>G (p.Phe169Val) c.3864T>G c.4906T>G (p.Phe1636Val) c.4360T>G (p.Phe1454Val) c.4307-4288T>G (n.4307-4288T>G) n.224T>G n.253-4288T>G n.40-4288T>G c.593T>G c.64T>G (p.Phe22Val) c.4633T>G (p.Phe1545Val) c.4034-4288T>G (n.4034-4288T>G) c.3268T>G (p.Phe1090Val) c.5182T>G (p.Phe1728Val) c.3488-4288T>G (n.3488-4288T>G) c.4909T>G (p.Phe1637Val) c.4363T>G (p.Phe1455Val) c.4580-4288T>G (n.4580-4288T>G) c.4090T>G (p.Phe1364Val) c.3761-4288T>G (n.3761-4288T>G) c.3541T>G (p.Phe1181Val) c.5455T>G (p.Phe1819Val) c.5179T>G (p.Phe1727Val) | |
9 | g.115046629A>G | CA374631319 | TNC | c.318-4288T>C c.3215-4288T>C (n.3215-4288T>C) c.3817T>C (p.Phe1273Leu) c.1849T>C (p.Phe617Leu) c.505T>C (p.Phe169Leu) c.3864T>C c.4906T>C (p.Phe1636Leu) c.4360T>C (p.Phe1454Leu) c.4307-4288T>C (n.4307-4288T>C) n.224T>C n.253-4288T>C n.40-4288T>C c.593T>C c.64T>C (p.Phe22Leu) c.4633T>C (p.Phe1545Leu) c.4034-4288T>C (n.4034-4288T>C) c.3268T>C (p.Phe1090Leu) c.5182T>C (p.Phe1728Leu) c.3488-4288T>C (n.3488-4288T>C) c.4909T>C (p.Phe1637Leu) c.4363T>C (p.Phe1455Leu) c.4580-4288T>C (n.4580-4288T>C) c.4090T>C (p.Phe1364Leu) c.3761-4288T>C (n.3761-4288T>C) c.3541T>C (p.Phe1181Leu) c.5455T>C (p.Phe1819Leu) c.5179T>C (p.Phe1727Leu) | |
9 | g.115046629A>T | CA374631320 | TNC | c.318-4288T>A c.3215-4288T>A (n.3215-4288T>A) c.3817T>A (p.Phe1273Ile) c.1849T>A (p.Phe617Ile) c.505T>A (p.Phe169Ile) c.3864T>A c.4906T>A (p.Phe1636Ile) c.4360T>A (p.Phe1454Ile) c.4307-4288T>A (n.4307-4288T>A) n.224T>A n.253-4288T>A n.40-4288T>A c.593T>A c.64T>A (p.Phe22Ile) c.4633T>A (p.Phe1545Ile) c.4034-4288T>A (n.4034-4288T>A) c.3268T>A (p.Phe1090Ile) c.5182T>A (p.Phe1728Ile) c.3488-4288T>A (n.3488-4288T>A) c.4909T>A (p.Phe1637Ile) c.4363T>A (p.Phe1455Ile) c.4580-4288T>A (n.4580-4288T>A) c.4090T>A (p.Phe1364Ile) c.3761-4288T>A (n.3761-4288T>A) c.3541T>A (p.Phe1181Ile) c.5455T>A (p.Phe1819Ile) c.5179T>A (p.Phe1727Ile) | COSMIC |
9 | g.115046630A>C | CA466912557 | TNC | c.318-4289T>G c.3215-4289T>G (n.3215-4289T>G) c.3816T>G (p.Gly1272=) c.1848T>G (p.Gly616=) c.504T>G (p.Gly168=) c.3863T>G c.4905T>G (p.Gly1635=) c.4359T>G (p.Gly1453=) c.4307-4289T>G (n.4307-4289T>G) n.223T>G n.253-4289T>G n.40-4289T>G c.592T>G c.63T>G (p.Gly21=) c.4632T>G (p.Gly1544=) c.4034-4289T>G (n.4034-4289T>G) c.3267T>G (p.Gly1089=) c.5181T>G (p.Gly1727=) c.3488-4289T>G (n.3488-4289T>G) c.4908T>G (p.Gly1636=) c.4362T>G (p.Gly1454=) c.4580-4289T>G (n.4580-4289T>G) c.4089T>G (p.Gly1363=) c.3761-4289T>G (n.3761-4289T>G) c.3540T>G (p.Gly1180=) c.5454T>G (p.Gly1818=) c.5178T>G (p.Gly1726=) | |
9 | g.115046630A>G | CA466912558 | TNC | c.318-4289T>C c.3215-4289T>C (n.3215-4289T>C) c.3816T>C (p.Gly1272=) c.1848T>C (p.Gly616=) c.504T>C (p.Gly168=) c.3863T>C c.4905T>C (p.Gly1635=) c.4359T>C (p.Gly1453=) c.4307-4289T>C (n.4307-4289T>C) n.223T>C n.253-4289T>C n.40-4289T>C c.592T>C c.63T>C (p.Gly21=) c.4632T>C (p.Gly1544=) c.4034-4289T>C (n.4034-4289T>C) c.3267T>C (p.Gly1089=) c.5181T>C (p.Gly1727=) c.3488-4289T>C (n.3488-4289T>C) c.4908T>C (p.Gly1636=) c.4362T>C (p.Gly1454=) c.4580-4289T>C (n.4580-4289T>C) c.4089T>C (p.Gly1363=) c.3761-4289T>C (n.3761-4289T>C) c.3540T>C (p.Gly1180=) c.5454T>C (p.Gly1818=) c.5178T>C (p.Gly1726=) | gnomAD v4 |
9 | g.115046630A>T | CA466912559 | TNC | c.318-4289T>A c.3215-4289T>A (n.3215-4289T>A) c.3816T>A (p.Gly1272=) c.1848T>A (p.Gly616=) c.504T>A (p.Gly168=) c.3863T>A c.4905T>A (p.Gly1635=) c.4359T>A (p.Gly1453=) c.4307-4289T>A (n.4307-4289T>A) n.223T>A n.253-4289T>A n.40-4289T>A c.592T>A c.63T>A (p.Gly21=) c.4632T>A (p.Gly1544=) c.4034-4289T>A (n.4034-4289T>A) c.3267T>A (p.Gly1089=) c.5181T>A (p.Gly1727=) c.3488-4289T>A (n.3488-4289T>A) c.4908T>A (p.Gly1636=) c.4362T>A (p.Gly1454=) c.4580-4289T>A (n.4580-4289T>A) c.4089T>A (p.Gly1363=) c.3761-4289T>A (n.3761-4289T>A) c.3540T>A (p.Gly1180=) c.5454T>A (p.Gly1818=) c.5178T>A (p.Gly1726=) | |
9 | g.115046631C>A | CA374631322 | TNC | c.318-4290G>T c.3215-4290G>T (n.3215-4290G>T) c.3815G>T (p.Gly1272Val) c.1847G>T (p.Gly616Val) c.503G>T (p.Gly168Val) c.3862G>T c.4904G>T (p.Gly1635Val) c.4358G>T (p.Gly1453Val) c.4307-4290G>T (n.4307-4290G>T) n.222G>T n.253-4290G>T n.40-4290G>T c.591G>T c.62G>T (p.Gly21Val) c.4631G>T (p.Gly1544Val) c.4034-4290G>T (n.4034-4290G>T) c.3266G>T (p.Gly1089Val) c.5180G>T (p.Gly1727Val) c.3488-4290G>T (n.3488-4290G>T) c.4907G>T (p.Gly1636Val) c.4361G>T (p.Gly1454Val) c.4580-4290G>T (n.4580-4290G>T) c.4088G>T (p.Gly1363Val) c.3761-4290G>T (n.3761-4290G>T) c.3539G>T (p.Gly1180Val) c.5453G>T (p.Gly1818Val) c.5177G>T (p.Gly1726Val) | |
9 | g.115046631C>G | CA374631324 | TNC | c.318-4290G>C c.3215-4290G>C (n.3215-4290G>C) c.3815G>C (p.Gly1272Ala) c.1847G>C (p.Gly616Ala) c.503G>C (p.Gly168Ala) c.3862G>C c.4904G>C (p.Gly1635Ala) c.4358G>C (p.Gly1453Ala) c.4307-4290G>C (n.4307-4290G>C) n.222G>C n.253-4290G>C n.40-4290G>C c.591G>C c.62G>C (p.Gly21Ala) c.4631G>C (p.Gly1544Ala) c.4034-4290G>C (n.4034-4290G>C) c.3266G>C (p.Gly1089Ala) c.5180G>C (p.Gly1727Ala) c.3488-4290G>C (n.3488-4290G>C) c.4907G>C (p.Gly1636Ala) c.4361G>C (p.Gly1454Ala) c.4580-4290G>C (n.4580-4290G>C) c.4088G>C (p.Gly1363Ala) c.3761-4290G>C (n.3761-4290G>C) c.3539G>C (p.Gly1180Ala) c.5453G>C (p.Gly1818Ala) c.5177G>C (p.Gly1726Ala) | |
9 | g.115046631C>T | CA374631326 | TNC | c.318-4290G>A c.3215-4290G>A (n.3215-4290G>A) c.3815G>A (p.Gly1272Asp) c.1847G>A (p.Gly616Asp) c.503G>A (p.Gly168Asp) c.3862G>A c.4904G>A (p.Gly1635Asp) c.4358G>A (p.Gly1453Asp) c.4307-4290G>A (n.4307-4290G>A) n.222G>A n.253-4290G>A n.40-4290G>A c.591G>A c.62G>A (p.Gly21Asp) c.4631G>A (p.Gly1544Asp) c.4034-4290G>A (n.4034-4290G>A) c.3266G>A (p.Gly1089Asp) c.5180G>A (p.Gly1727Asp) c.3488-4290G>A (n.3488-4290G>A) c.4907G>A (p.Gly1636Asp) c.4361G>A (p.Gly1454Asp) c.4580-4290G>A (n.4580-4290G>A) c.4088G>A (p.Gly1363Asp) c.3761-4290G>A (n.3761-4290G>A) c.3539G>A (p.Gly1180Asp) c.5453G>A (p.Gly1818Asp) c.5177G>A (p.Gly1726Asp) | |
9 | g.115046632C>A | CA374631328 | TNC | c.318-4291G>T c.3215-4291G>T (n.3215-4291G>T) c.3814G>T (p.Gly1272Cys) c.1846G>T (p.Gly616Cys) c.502G>T (p.Gly168Cys) c.3861G>T c.4903G>T (p.Gly1635Cys) c.4357G>T (p.Gly1453Cys) c.4307-4291G>T (n.4307-4291G>T) n.221G>T n.253-4291G>T n.40-4291G>T c.590G>T c.61G>T (p.Gly21Cys) c.4630G>T (p.Gly1544Cys) c.4034-4291G>T (n.4034-4291G>T) c.3265G>T (p.Gly1089Cys) c.5179G>T (p.Gly1727Cys) c.3488-4291G>T (n.3488-4291G>T) c.4906G>T (p.Gly1636Cys) c.4360G>T (p.Gly1454Cys) c.4580-4291G>T (n.4580-4291G>T) c.4087G>T (p.Gly1363Cys) c.3761-4291G>T (n.3761-4291G>T) c.3538G>T (p.Gly1180Cys) c.5452G>T (p.Gly1818Cys) c.5176G>T (p.Gly1726Cys) | |
9 | g.115046632C= | CA1874118948 | TNC | c.318-4291G= c.3215-4291G= (n.3215-4291G=) c.3814G= (p.Gly1272=) c.1846G= (p.Gly616=) c.502G= (p.Gly168=) c.3861G= c.4903G= (p.Gly1635=) c.4357G= (p.Gly1453=) c.4307-4291G= (n.4307-4291G=) n.221G= n.253-4291G= n.40-4291G= c.590G= c.61G= (p.Gly21=) c.4630G= (p.Gly1544=) c.4034-4291G= (n.4034-4291G=) c.3265G= (p.Gly1089=) c.5179G= (p.Gly1727=) c.3488-4291G= (n.3488-4291G=) c.4906G= (p.Gly1636=) c.4360G= (p.Gly1454=) c.4580-4291G= (n.4580-4291G=) c.4087G= (p.Gly1363=) c.3761-4291G= (n.3761-4291G=) c.3538G= (p.Gly1180=) c.5452G= (p.Gly1818=) c.5176G= (p.Gly1726=) | |
9 | g.115046632C>G | CA374631327 | TNC | c.318-4291G>C c.3215-4291G>C (n.3215-4291G>C) c.3814G>C (p.Gly1272Arg) c.1846G>C (p.Gly616Arg) c.502G>C (p.Gly168Arg) c.3861G>C c.4903G>C (p.Gly1635Arg) c.4357G>C (p.Gly1453Arg) c.4307-4291G>C (n.4307-4291G>C) n.221G>C n.253-4291G>C n.40-4291G>C c.590G>C c.61G>C (p.Gly21Arg) c.4630G>C (p.Gly1544Arg) c.4034-4291G>C (n.4034-4291G>C) c.3265G>C (p.Gly1089Arg) c.5179G>C (p.Gly1727Arg) c.3488-4291G>C (n.3488-4291G>C) c.4906G>C (p.Gly1636Arg) c.4360G>C (p.Gly1454Arg) c.4580-4291G>C (n.4580-4291G>C) c.4087G>C (p.Gly1363Arg) c.3761-4291G>C (n.3761-4291G>C) c.3538G>C (p.Gly1180Arg) c.5452G>C (p.Gly1818Arg) c.5176G>C (p.Gly1726Arg) | |
9 | g.115046632C>T | CA198692735 | TNC | c.318-4291G>A c.3215-4291G>A (n.3215-4291G>A) c.3814G>A (p.Gly1272Ser) c.1846G>A (p.Gly616Ser) c.502G>A (p.Gly168Ser) c.3861G>A c.4903G>A (p.Gly1635Ser) c.4357G>A (p.Gly1453Ser) c.4307-4291G>A (n.4307-4291G>A) n.221G>A n.253-4291G>A n.40-4291G>A c.590G>A c.61G>A (p.Gly21Ser) c.4630G>A (p.Gly1544Ser) c.4034-4291G>A (n.4034-4291G>A) c.3265G>A (p.Gly1089Ser) c.5179G>A (p.Gly1727Ser) c.3488-4291G>A (n.3488-4291G>A) c.4906G>A (p.Gly1636Ser) c.4360G>A (p.Gly1454Ser) c.4580-4291G>A (n.4580-4291G>A) c.4087G>A (p.Gly1363Ser) c.3761-4291G>A (n.3761-4291G>A) c.3538G>A (p.Gly1180Ser) c.5452G>A (p.Gly1818Ser) c.5176G>A (p.Gly1726Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.115046633G>A | CA5207790 | TNC | c.318-4292C>T c.3215-4292C>T (n.3215-4292C>T) c.3813C>T (p.Asp1271=) c.1845C>T (p.Asp615=) c.501C>T (p.Asp167=) c.3860C>T c.4902C>T (p.Asp1634=) c.4356C>T (p.Asp1452=) c.4307-4292C>T (n.4307-4292C>T) n.220C>T n.253-4292C>T n.40-4292C>T c.589C>T c.60C>T (p.Asp20=) c.4629C>T (p.Asp1543=) c.4034-4292C>T (n.4034-4292C>T) c.3264C>T (p.Asp1088=) c.5178C>T (p.Asp1726=) c.3488-4292C>T (n.3488-4292C>T) c.4905C>T (p.Asp1635=) c.4359C>T (p.Asp1453=) c.4580-4292C>T (n.4580-4292C>T) c.4086C>T (p.Asp1362=) c.3761-4292C>T (n.3761-4292C>T) c.3537C>T (p.Asp1179=) c.5451C>T (p.Asp1817=) c.5175C>T (p.Asp1725=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.115046633G>C | CA374631329 | TNC | c.318-4292C>G c.3215-4292C>G (n.3215-4292C>G) c.3813C>G (p.Asp1271Glu) c.1845C>G (p.Asp615Glu) c.501C>G (p.Asp167Glu) c.3860C>G c.4902C>G (p.Asp1634Glu) c.4356C>G (p.Asp1452Glu) c.4307-4292C>G (n.4307-4292C>G) n.220C>G n.253-4292C>G n.40-4292C>G c.589C>G c.60C>G (p.Asp20Glu) c.4629C>G (p.Asp1543Glu) c.4034-4292C>G (n.4034-4292C>G) c.3264C>G (p.Asp1088Glu) c.5178C>G (p.Asp1726Glu) c.3488-4292C>G (n.3488-4292C>G) c.4905C>G (p.Asp1635Glu) c.4359C>G (p.Asp1453Glu) c.4580-4292C>G (n.4580-4292C>G) c.4086C>G (p.Asp1362Glu) c.3761-4292C>G (n.3761-4292C>G) c.3537C>G (p.Asp1179Glu) c.5451C>G (p.Asp1817Glu) c.5175C>G (p.Asp1725Glu) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
9 | g.115046633G= | CA1874118949 | TNC | c.318-4292C= c.3215-4292C= (n.3215-4292C=) c.3813C= (p.Asp1271=) c.1845C= (p.Asp615=) c.501C= (p.Asp167=) c.3860C= c.4902C= (p.Asp1634=) c.4356C= (p.Asp1452=) c.4307-4292C= (n.4307-4292C=) n.220C= n.253-4292C= n.40-4292C= c.589C= c.60C= (p.Asp20=) c.4629C= (p.Asp1543=) c.4034-4292C= (n.4034-4292C=) c.3264C= (p.Asp1088=) c.5178C= (p.Asp1726=) c.3488-4292C= (n.3488-4292C=) c.4905C= (p.Asp1635=) c.4359C= (p.Asp1453=) c.4580-4292C= (n.4580-4292C=) c.4086C= (p.Asp1362=) c.3761-4292C= (n.3761-4292C=) c.3537C= (p.Asp1179=) c.5451C= (p.Asp1817=) c.5175C= (p.Asp1725=) | |
9 | g.115046633G>T | CA374631330 | TNC | c.318-4292C>A c.3215-4292C>A (n.3215-4292C>A) c.3813C>A (p.Asp1271Glu) c.1845C>A (p.Asp615Glu) c.501C>A (p.Asp167Glu) c.3860C>A c.4902C>A (p.Asp1634Glu) c.4356C>A (p.Asp1452Glu) c.4307-4292C>A (n.4307-4292C>A) n.220C>A n.253-4292C>A n.40-4292C>A c.589C>A c.60C>A (p.Asp20Glu) c.4629C>A (p.Asp1543Glu) c.4034-4292C>A (n.4034-4292C>A) c.3264C>A (p.Asp1088Glu) c.5178C>A (p.Asp1726Glu) c.3488-4292C>A (n.3488-4292C>A) c.4905C>A (p.Asp1635Glu) c.4359C>A (p.Asp1453Glu) c.4580-4292C>A (n.4580-4292C>A) c.4086C>A (p.Asp1362Glu) c.3761-4292C>A (n.3761-4292C>A) c.3537C>A (p.Asp1179Glu) c.5451C>A (p.Asp1817Glu) c.5175C>A (p.Asp1725Glu) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.115046634T>A | CA374631332 | TNC | c.318-4293A>T c.3215-4293A>T (n.3215-4293A>T) c.3812A>T (p.Asp1271Val) c.1844A>T (p.Asp615Val) c.500A>T (p.Asp167Val) c.3859A>T c.4901A>T (p.Asp1634Val) c.4355A>T (p.Asp1452Val) c.4307-4293A>T (n.4307-4293A>T) n.219A>T n.253-4293A>T n.40-4293A>T c.588A>T c.59A>T (p.Asp20Val) c.4628A>T (p.Asp1543Val) c.4034-4293A>T (n.4034-4293A>T) c.3263A>T (p.Asp1088Val) c.5177A>T (p.Asp1726Val) c.3488-4293A>T (n.3488-4293A>T) c.4904A>T (p.Asp1635Val) c.4358A>T (p.Asp1453Val) c.4580-4293A>T (n.4580-4293A>T) c.4085A>T (p.Asp1362Val) c.3761-4293A>T (n.3761-4293A>T) c.3536A>T (p.Asp1179Val) c.5450A>T (p.Asp1817Val) c.5174A>T (p.Asp1725Val) | |
9 | g.115046634T>C | CA374631333 | TNC | c.318-4293A>G c.3215-4293A>G (n.3215-4293A>G) c.3812A>G (p.Asp1271Gly) c.1844A>G (p.Asp615Gly) c.500A>G (p.Asp167Gly) c.3859A>G c.4901A>G (p.Asp1634Gly) c.4355A>G (p.Asp1452Gly) c.4307-4293A>G (n.4307-4293A>G) n.219A>G n.253-4293A>G n.40-4293A>G c.588A>G c.59A>G (p.Asp20Gly) c.4628A>G (p.Asp1543Gly) c.4034-4293A>G (n.4034-4293A>G) c.3263A>G (p.Asp1088Gly) c.5177A>G (p.Asp1726Gly) c.3488-4293A>G (n.3488-4293A>G) c.4904A>G (p.Asp1635Gly) c.4358A>G (p.Asp1453Gly) c.4580-4293A>G (n.4580-4293A>G) c.4085A>G (p.Asp1362Gly) c.3761-4293A>G (n.3761-4293A>G) c.3536A>G (p.Asp1179Gly) c.5450A>G (p.Asp1817Gly) c.5174A>G (p.Asp1725Gly) | |
9 | g.115046634T>G | CA374631335 | TNC | c.318-4293A>C c.3215-4293A>C (n.3215-4293A>C) c.3812A>C (p.Asp1271Ala) c.1844A>C (p.Asp615Ala) c.500A>C (p.Asp167Ala) c.3859A>C c.4901A>C (p.Asp1634Ala) c.4355A>C (p.Asp1452Ala) c.4307-4293A>C (n.4307-4293A>C) n.219A>C n.253-4293A>C n.40-4293A>C c.588A>C c.59A>C (p.Asp20Ala) c.4628A>C (p.Asp1543Ala) c.4034-4293A>C (n.4034-4293A>C) c.3263A>C (p.Asp1088Ala) c.5177A>C (p.Asp1726Ala) c.3488-4293A>C (n.3488-4293A>C) c.4904A>C (p.Asp1635Ala) c.4358A>C (p.Asp1453Ala) c.4580-4293A>C (n.4580-4293A>C) c.4085A>C (p.Asp1362Ala) c.3761-4293A>C (n.3761-4293A>C) c.3536A>C (p.Asp1179Ala) c.5450A>C (p.Asp1817Ala) c.5174A>C (p.Asp1725Ala) | |
9 | g.115046635C>A | CA374631336 | TNC | c.318-4294G>T c.3215-4294G>T (n.3215-4294G>T) c.3811G>T (p.Asp1271Tyr) c.1843G>T (p.Asp615Tyr) c.499G>T (p.Asp167Tyr) c.3858G>T c.4900G>T (p.Asp1634Tyr) c.4354G>T (p.Asp1452Tyr) c.4307-4294G>T (n.4307-4294G>T) n.218G>T n.253-4294G>T n.40-4294G>T c.587G>T c.58G>T (p.Asp20Tyr) c.4627G>T (p.Asp1543Tyr) c.4034-4294G>T (n.4034-4294G>T) c.3262G>T (p.Asp1088Tyr) c.5176G>T (p.Asp1726Tyr) c.3488-4294G>T (n.3488-4294G>T) c.4903G>T (p.Asp1635Tyr) c.4357G>T (p.Asp1453Tyr) c.4580-4294G>T (n.4580-4294G>T) c.4084G>T (p.Asp1362Tyr) c.3761-4294G>T (n.3761-4294G>T) c.3535G>T (p.Asp1179Tyr) c.5449G>T (p.Asp1817Tyr) c.5173G>T (p.Asp1725Tyr) | gnomAD v4 |
9 | g.115046635C>G | CA374631337 | TNC | c.318-4294G>C c.3215-4294G>C (n.3215-4294G>C) c.3811G>C (p.Asp1271His) c.1843G>C (p.Asp615His) c.499G>C (p.Asp167His) c.3858G>C c.4900G>C (p.Asp1634His) c.4354G>C (p.Asp1452His) c.4307-4294G>C (n.4307-4294G>C) n.218G>C n.253-4294G>C n.40-4294G>C c.587G>C c.58G>C (p.Asp20His) c.4627G>C (p.Asp1543His) c.4034-4294G>C (n.4034-4294G>C) c.3262G>C (p.Asp1088His) c.5176G>C (p.Asp1726His) c.3488-4294G>C (n.3488-4294G>C) c.4903G>C (p.Asp1635His) c.4357G>C (p.Asp1453His) c.4580-4294G>C (n.4580-4294G>C) c.4084G>C (p.Asp1362His) c.3761-4294G>C (n.3761-4294G>C) c.3535G>C (p.Asp1179His) c.5449G>C (p.Asp1817His) c.5173G>C (p.Asp1725His) | gnomAD v4 |
9 | g.115046635C>T | CA374631338 | TNC | c.318-4294G>A c.3215-4294G>A (n.3215-4294G>A) c.3811G>A (p.Asp1271Asn) c.1843G>A (p.Asp615Asn) c.499G>A (p.Asp167Asn) c.3858G>A c.4900G>A (p.Asp1634Asn) c.4354G>A (p.Asp1452Asn) c.4307-4294G>A (n.4307-4294G>A) n.218G>A n.253-4294G>A n.40-4294G>A c.587G>A c.58G>A (p.Asp20Asn) c.4627G>A (p.Asp1543Asn) c.4034-4294G>A (n.4034-4294G>A) c.3262G>A (p.Asp1088Asn) c.5176G>A (p.Asp1726Asn) c.3488-4294G>A (n.3488-4294G>A) c.4903G>A (p.Asp1635Asn) c.4357G>A (p.Asp1453Asn) c.4580-4294G>A (n.4580-4294G>A) c.4084G>A (p.Asp1362Asn) c.3761-4294G>A (n.3761-4294G>A) c.3535G>A (p.Asp1179Asn) c.5449G>A (p.Asp1817Asn) c.5173G>A (p.Asp1725Asn) | |
9 | g.115046636T>A | CA466912560 | TNC | c.318-4295A>T c.3215-4295A>T (n.3215-4295A>T) c.3810A>T (p.Pro1270=) c.1842A>T (p.Pro614=) c.498A>T (p.Pro166=) c.3857A>T c.4899A>T (p.Pro1633=) c.4353A>T (p.Pro1451=) c.4307-4295A>T (n.4307-4295A>T) n.217A>T n.253-4295A>T n.40-4295A>T c.586A>T c.57A>T (p.Pro19=) c.4626A>T (p.Pro1542=) c.4034-4295A>T (n.4034-4295A>T) c.3261A>T (p.Pro1087=) c.5175A>T (p.Pro1725=) c.3488-4295A>T (n.3488-4295A>T) c.4902A>T (p.Pro1634=) c.4356A>T (p.Pro1452=) c.4580-4295A>T (n.4580-4295A>T) c.4083A>T (p.Pro1361=) c.3761-4295A>T (n.3761-4295A>T) c.3534A>T (p.Pro1178=) c.5448A>T (p.Pro1816=) c.5172A>T (p.Pro1724=) | |
9 | g.115046636T>C | CA466912561 | TNC | c.318-4295A>G c.3215-4295A>G (n.3215-4295A>G) c.3810A>G (p.Pro1270=) c.1842A>G (p.Pro614=) c.498A>G (p.Pro166=) c.3857A>G c.4899A>G (p.Pro1633=) c.4353A>G (p.Pro1451=) c.4307-4295A>G (n.4307-4295A>G) n.217A>G n.253-4295A>G n.40-4295A>G c.586A>G c.57A>G (p.Pro19=) c.4626A>G (p.Pro1542=) c.4034-4295A>G (n.4034-4295A>G) c.3261A>G (p.Pro1087=) c.5175A>G (p.Pro1725=) c.3488-4295A>G (n.3488-4295A>G) c.4902A>G (p.Pro1634=) c.4356A>G (p.Pro1452=) c.4580-4295A>G (n.4580-4295A>G) c.4083A>G (p.Pro1361=) c.3761-4295A>G (n.3761-4295A>G) c.3534A>G (p.Pro1178=) c.5448A>G (p.Pro1816=) c.5172A>G (p.Pro1724=) | gnomAD v4 |
9 | g.115046636T>G | CA466912562 | TNC | c.318-4295A>C c.3215-4295A>C (n.3215-4295A>C) c.3810A>C (p.Pro1270=) c.1842A>C (p.Pro614=) c.498A>C (p.Pro166=) c.3857A>C c.4899A>C (p.Pro1633=) c.4353A>C (p.Pro1451=) c.4307-4295A>C (n.4307-4295A>C) n.217A>C n.253-4295A>C n.40-4295A>C c.586A>C c.57A>C (p.Pro19=) c.4626A>C (p.Pro1542=) c.4034-4295A>C (n.4034-4295A>C) c.3261A>C (p.Pro1087=) c.5175A>C (p.Pro1725=) c.3488-4295A>C (n.3488-4295A>C) c.4902A>C (p.Pro1634=) c.4356A>C (p.Pro1452=) c.4580-4295A>C (n.4580-4295A>C) c.4083A>C (p.Pro1361=) c.3761-4295A>C (n.3761-4295A>C) c.3534A>C (p.Pro1178=) c.5448A>C (p.Pro1816=) c.5172A>C (p.Pro1724=) | |
9 | g.115046637G>A | CA374631340 | TNC | c.318-4296C>T c.3215-4296C>T (n.3215-4296C>T) c.3809C>T (p.Pro1270Leu) c.1841C>T (p.Pro614Leu) c.497C>T (p.Pro166Leu) c.3856C>T c.4898C>T (p.Pro1633Leu) c.4352C>T (p.Pro1451Leu) c.4307-4296C>T (n.4307-4296C>T) n.216C>T n.253-4296C>T n.40-4296C>T c.585C>T c.56C>T (p.Pro19Leu) c.4625C>T (p.Pro1542Leu) c.4034-4296C>T (n.4034-4296C>T) c.3260C>T (p.Pro1087Leu) c.5174C>T (p.Pro1725Leu) c.3488-4296C>T (n.3488-4296C>T) c.4901C>T (p.Pro1634Leu) c.4355C>T (p.Pro1452Leu) c.4580-4296C>T (n.4580-4296C>T) c.4082C>T (p.Pro1361Leu) c.3761-4296C>T (n.3761-4296C>T) c.3533C>T (p.Pro1178Leu) c.5447C>T (p.Pro1816Leu) c.5171C>T (p.Pro1724Leu) | |
9 | g.115046637G>C | CA374631342 | TNC | c.318-4296C>G c.3215-4296C>G (n.3215-4296C>G) c.3809C>G (p.Pro1270Arg) c.1841C>G (p.Pro614Arg) c.497C>G (p.Pro166Arg) c.3856C>G c.4898C>G (p.Pro1633Arg) c.4352C>G (p.Pro1451Arg) c.4307-4296C>G (n.4307-4296C>G) n.216C>G n.253-4296C>G n.40-4296C>G c.585C>G c.56C>G (p.Pro19Arg) c.4625C>G (p.Pro1542Arg) c.4034-4296C>G (n.4034-4296C>G) c.3260C>G (p.Pro1087Arg) c.5174C>G (p.Pro1725Arg) c.3488-4296C>G (n.3488-4296C>G) c.4901C>G (p.Pro1634Arg) c.4355C>G (p.Pro1452Arg) c.4580-4296C>G (n.4580-4296C>G) c.4082C>G (p.Pro1361Arg) c.3761-4296C>G (n.3761-4296C>G) c.3533C>G (p.Pro1178Arg) c.5447C>G (p.Pro1816Arg) c.5171C>G (p.Pro1724Arg) | |
9 | g.115046637G= | CA1874118950 | TNC | c.318-4296C= c.3215-4296C= (n.3215-4296C=) c.3809C= (p.Pro1270=) c.1841C= (p.Pro614=) c.497C= (p.Pro166=) c.3856C= c.4898C= (p.Pro1633=) c.4352C= (p.Pro1451=) c.4307-4296C= (n.4307-4296C=) n.216C= n.253-4296C= n.40-4296C= c.585C= c.56C= (p.Pro19=) c.4625C= (p.Pro1542=) c.4034-4296C= (n.4034-4296C=) c.3260C= (p.Pro1087=) c.5174C= (p.Pro1725=) c.3488-4296C= (n.3488-4296C=) c.4901C= (p.Pro1634=) c.4355C= (p.Pro1452=) c.4580-4296C= (n.4580-4296C=) c.4082C= (p.Pro1361=) c.3761-4296C= (n.3761-4296C=) c.3533C= (p.Pro1178=) c.5447C= (p.Pro1816=) c.5171C= (p.Pro1724=) | |
9 | g.115046637G>T | CA5207791 | TNC | c.318-4296C>A c.3215-4296C>A (n.3215-4296C>A) c.3809C>A (p.Pro1270Gln) c.1841C>A (p.Pro614Gln) c.497C>A (p.Pro166Gln) c.3856C>A c.4898C>A (p.Pro1633Gln) c.4352C>A (p.Pro1451Gln) c.4307-4296C>A (n.4307-4296C>A) n.216C>A n.253-4296C>A n.40-4296C>A c.585C>A c.56C>A (p.Pro19Gln) c.4625C>A (p.Pro1542Gln) c.4034-4296C>A (n.4034-4296C>A) c.3260C>A (p.Pro1087Gln) c.5174C>A (p.Pro1725Gln) c.3488-4296C>A (n.3488-4296C>A) c.4901C>A (p.Pro1634Gln) c.4355C>A (p.Pro1452Gln) c.4580-4296C>A (n.4580-4296C>A) c.4082C>A (p.Pro1361Gln) c.3761-4296C>A (n.3761-4296C>A) c.3533C>A (p.Pro1178Gln) c.5447C>A (p.Pro1816Gln) c.5171C>A (p.Pro1724Gln) | dbSNP ExAC gnomAD v2 |
9 | g.115046638G>A | CA374631346 | TNC | c.318-4297C>T c.3215-4297C>T (n.3215-4297C>T) c.3808C>T (p.Pro1270Ser) c.1840C>T (p.Pro614Ser) c.496C>T (p.Pro166Ser) c.3855C>T c.4897C>T (p.Pro1633Ser) c.4351C>T (p.Pro1451Ser) c.4307-4297C>T (n.4307-4297C>T) n.215C>T n.253-4297C>T n.40-4297C>T c.584C>T c.55C>T (p.Pro19Ser) c.4624C>T (p.Pro1542Ser) c.4034-4297C>T (n.4034-4297C>T) c.3259C>T (p.Pro1087Ser) c.5173C>T (p.Pro1725Ser) c.3488-4297C>T (n.3488-4297C>T) c.4900C>T (p.Pro1634Ser) c.4354C>T (p.Pro1452Ser) c.4580-4297C>T (n.4580-4297C>T) c.4081C>T (p.Pro1361Ser) c.3761-4297C>T (n.3761-4297C>T) c.3532C>T (p.Pro1178Ser) c.5446C>T (p.Pro1816Ser) c.5170C>T (p.Pro1724Ser) | |
9 | g.115046638G>C | CA374631345 | TNC | c.318-4297C>G c.3215-4297C>G (n.3215-4297C>G) c.3808C>G (p.Pro1270Ala) c.1840C>G (p.Pro614Ala) c.496C>G (p.Pro166Ala) c.3855C>G c.4897C>G (p.Pro1633Ala) c.4351C>G (p.Pro1451Ala) c.4307-4297C>G (n.4307-4297C>G) n.215C>G n.253-4297C>G n.40-4297C>G c.584C>G c.55C>G (p.Pro19Ala) c.4624C>G (p.Pro1542Ala) c.4034-4297C>G (n.4034-4297C>G) c.3259C>G (p.Pro1087Ala) c.5173C>G (p.Pro1725Ala) c.3488-4297C>G (n.3488-4297C>G) c.4900C>G (p.Pro1634Ala) c.4354C>G (p.Pro1452Ala) c.4580-4297C>G (n.4580-4297C>G) c.4081C>G (p.Pro1361Ala) c.3761-4297C>G (n.3761-4297C>G) c.3532C>G (p.Pro1178Ala) c.5446C>G (p.Pro1816Ala) c.5170C>G (p.Pro1724Ala) | |
9 | g.115046638G>T | CA374631344 | TNC | c.318-4297C>A c.3215-4297C>A (n.3215-4297C>A) c.3808C>A (p.Pro1270Thr) c.1840C>A (p.Pro614Thr) c.496C>A (p.Pro166Thr) c.3855C>A c.4897C>A (p.Pro1633Thr) c.4351C>A (p.Pro1451Thr) c.4307-4297C>A (n.4307-4297C>A) n.215C>A n.253-4297C>A n.40-4297C>A c.584C>A c.55C>A (p.Pro19Thr) c.4624C>A (p.Pro1542Thr) c.4034-4297C>A (n.4034-4297C>A) c.3259C>A (p.Pro1087Thr) c.5173C>A (p.Pro1725Thr) c.3488-4297C>A (n.3488-4297C>A) c.4900C>A (p.Pro1634Thr) c.4354C>A (p.Pro1452Thr) c.4580-4297C>A (n.4580-4297C>A) c.4081C>A (p.Pro1361Thr) c.3761-4297C>A (n.3761-4297C>A) c.3532C>A (p.Pro1178Thr) c.5446C>A (p.Pro1816Thr) c.5170C>A (p.Pro1724Thr) | COSMIC |
9 | g.115046639G>A | CA466912563 | TNC | c.318-4298C>T c.3215-4298C>T (n.3215-4298C>T) c.3807C>T (p.Thr1269=) c.1839C>T (p.Thr613=) c.495C>T (p.Thr165=) c.3854C>T c.4896C>T (p.Thr1632=) c.4350C>T (p.Thr1450=) c.4307-4298C>T (n.4307-4298C>T) n.214C>T n.253-4298C>T n.40-4298C>T c.583C>T c.54C>T (p.Thr18=) c.4623C>T (p.Thr1541=) c.4034-4298C>T (n.4034-4298C>T) c.3258C>T (p.Thr1086=) c.5172C>T (p.Thr1724=) c.3488-4298C>T (n.3488-4298C>T) c.4899C>T (p.Thr1633=) c.4353C>T (p.Thr1451=) c.4580-4298C>T (n.4580-4298C>T) c.4080C>T (p.Thr1360=) c.3761-4298C>T (n.3761-4298C>T) c.3531C>T (p.Thr1177=) c.5445C>T (p.Thr1815=) c.5169C>T (p.Thr1723=) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.115046639G>C | CA466912564 | TNC | c.318-4298C>G c.3215-4298C>G (n.3215-4298C>G) c.3807C>G (p.Thr1269=) c.1839C>G (p.Thr613=) c.495C>G (p.Thr165=) c.3854C>G c.4896C>G (p.Thr1632=) c.4350C>G (p.Thr1450=) c.4307-4298C>G (n.4307-4298C>G) n.214C>G n.253-4298C>G n.40-4298C>G c.583C>G c.54C>G (p.Thr18=) c.4623C>G (p.Thr1541=) c.4034-4298C>G (n.4034-4298C>G) c.3258C>G (p.Thr1086=) c.5172C>G (p.Thr1724=) c.3488-4298C>G (n.3488-4298C>G) c.4899C>G (p.Thr1633=) c.4353C>G (p.Thr1451=) c.4580-4298C>G (n.4580-4298C>G) c.4080C>G (p.Thr1360=) c.3761-4298C>G (n.3761-4298C>G) c.3531C>G (p.Thr1177=) c.5445C>G (p.Thr1815=) c.5169C>G (p.Thr1723=) | |
9 | g.115046639G= | CA1874118951 | TNC | c.318-4298C= c.3215-4298C= (n.3215-4298C=) c.3807C= (p.Thr1269=) c.1839C= (p.Thr613=) c.495C= (p.Thr165=) c.3854C= c.4896C= (p.Thr1632=) c.4350C= (p.Thr1450=) c.4307-4298C= (n.4307-4298C=) n.214C= n.253-4298C= n.40-4298C= c.583C= c.54C= (p.Thr18=) c.4623C= (p.Thr1541=) c.4034-4298C= (n.4034-4298C=) c.3258C= (p.Thr1086=) c.5172C= (p.Thr1724=) c.3488-4298C= (n.3488-4298C=) c.4899C= (p.Thr1633=) c.4353C= (p.Thr1451=) c.4580-4298C= (n.4580-4298C=) c.4080C= (p.Thr1360=) c.3761-4298C= (n.3761-4298C=) c.3531C= (p.Thr1177=) c.5445C= (p.Thr1815=) c.5169C= (p.Thr1723=) | |
9 | g.115046639G>T | CA466912565 | TNC | c.318-4298C>A c.3215-4298C>A (n.3215-4298C>A) c.3807C>A (p.Thr1269=) c.1839C>A (p.Thr613=) c.495C>A (p.Thr165=) c.3854C>A c.4896C>A (p.Thr1632=) c.4350C>A (p.Thr1450=) c.4307-4298C>A (n.4307-4298C>A) n.214C>A n.253-4298C>A n.40-4298C>A c.583C>A c.54C>A (p.Thr18=) c.4623C>A (p.Thr1541=) c.4034-4298C>A (n.4034-4298C>A) c.3258C>A (p.Thr1086=) c.5172C>A (p.Thr1724=) c.3488-4298C>A (n.3488-4298C>A) c.4899C>A (p.Thr1633=) c.4353C>A (p.Thr1451=) c.4580-4298C>A (n.4580-4298C>A) c.4080C>A (p.Thr1360=) c.3761-4298C>A (n.3761-4298C>A) c.3531C>A (p.Thr1177=) c.5445C>A (p.Thr1815=) c.5169C>A (p.Thr1723=) | |
9 | g.115046640G>A | CA374631349 | TNC | c.318-4299C>T c.3215-4299C>T (n.3215-4299C>T) c.3806C>T (p.Thr1269Ile) c.1838C>T (p.Thr613Ile) c.494C>T (p.Thr165Ile) c.3853C>T c.4895C>T (p.Thr1632Ile) c.4349C>T (p.Thr1450Ile) c.4307-4299C>T (n.4307-4299C>T) n.213C>T n.253-4299C>T n.40-4299C>T c.582C>T c.53C>T (p.Thr18Ile) c.4622C>T (p.Thr1541Ile) c.4034-4299C>T (n.4034-4299C>T) c.3257C>T (p.Thr1086Ile) c.5171C>T (p.Thr1724Ile) c.3488-4299C>T (n.3488-4299C>T) c.4898C>T (p.Thr1633Ile) c.4352C>T (p.Thr1451Ile) c.4580-4299C>T (n.4580-4299C>T) c.4079C>T (p.Thr1360Ile) c.3761-4299C>T (n.3761-4299C>T) c.3530C>T (p.Thr1177Ile) c.5444C>T (p.Thr1815Ile) c.5168C>T (p.Thr1723Ile) | gnomAD v4 |
9 | g.115046640G>C | CA374631347 | TNC | c.318-4299C>G c.3215-4299C>G (n.3215-4299C>G) c.3806C>G (p.Thr1269Ser) c.1838C>G (p.Thr613Ser) c.494C>G (p.Thr165Ser) c.3853C>G c.4895C>G (p.Thr1632Ser) c.4349C>G (p.Thr1450Ser) c.4307-4299C>G (n.4307-4299C>G) n.213C>G n.253-4299C>G n.40-4299C>G c.582C>G c.53C>G (p.Thr18Ser) c.4622C>G (p.Thr1541Ser) c.4034-4299C>G (n.4034-4299C>G) c.3257C>G (p.Thr1086Ser) c.5171C>G (p.Thr1724Ser) c.3488-4299C>G (n.3488-4299C>G) c.4898C>G (p.Thr1633Ser) c.4352C>G (p.Thr1451Ser) c.4580-4299C>G (n.4580-4299C>G) c.4079C>G (p.Thr1360Ser) c.3761-4299C>G (n.3761-4299C>G) c.3530C>G (p.Thr1177Ser) c.5444C>G (p.Thr1815Ser) c.5168C>G (p.Thr1723Ser) | |
9 | g.115046640G= | CA1874118952 | TNC | c.318-4299C= c.3215-4299C= (n.3215-4299C=) c.3806C= (p.Thr1269=) c.1838C= (p.Thr613=) c.494C= (p.Thr165=) c.3853C= c.4895C= (p.Thr1632=) c.4349C= (p.Thr1450=) c.4307-4299C= (n.4307-4299C=) n.213C= n.253-4299C= n.40-4299C= c.582C= c.53C= (p.Thr18=) c.4622C= (p.Thr1541=) c.4034-4299C= (n.4034-4299C=) c.3257C= (p.Thr1086=) c.5171C= (p.Thr1724=) c.3488-4299C= (n.3488-4299C=) c.4898C= (p.Thr1633=) c.4352C= (p.Thr1451=) c.4580-4299C= (n.4580-4299C=) c.4079C= (p.Thr1360=) c.3761-4299C= (n.3761-4299C=) c.3530C= (p.Thr1177=) c.5444C= (p.Thr1815=) c.5168C= (p.Thr1723=) | |
9 | g.115046640G>T | CA198692742 | TNC | c.318-4299C>A c.3215-4299C>A (n.3215-4299C>A) c.3806C>A (p.Thr1269Asn) c.1838C>A (p.Thr613Asn) c.494C>A (p.Thr165Asn) c.3853C>A c.4895C>A (p.Thr1632Asn) c.4349C>A (p.Thr1450Asn) c.4307-4299C>A (n.4307-4299C>A) n.213C>A n.253-4299C>A n.40-4299C>A c.582C>A c.53C>A (p.Thr18Asn) c.4622C>A (p.Thr1541Asn) c.4034-4299C>A (n.4034-4299C>A) c.3257C>A (p.Thr1086Asn) c.5171C>A (p.Thr1724Asn) c.3488-4299C>A (n.3488-4299C>A) c.4898C>A (p.Thr1633Asn) c.4352C>A (p.Thr1451Asn) c.4580-4299C>A (n.4580-4299C>A) c.4079C>A (p.Thr1360Asn) c.3761-4299C>A (n.3761-4299C>A) c.3530C>A (p.Thr1177Asn) c.5444C>A (p.Thr1815Asn) c.5168C>A (p.Thr1723Asn) | dbSNP |
9 | g.115046641T>A | CA374631350 | TNC | c.318-4300A>T c.3215-4300A>T (n.3215-4300A>T) c.3805A>T (p.Thr1269Ser) c.1837A>T (p.Thr613Ser) c.493A>T (p.Thr165Ser) c.3852A>T c.4894A>T (p.Thr1632Ser) c.4348A>T (p.Thr1450Ser) c.4307-4300A>T (n.4307-4300A>T) n.212A>T n.253-4300A>T n.40-4300A>T c.581A>T c.52A>T (p.Thr18Ser) c.4621A>T (p.Thr1541Ser) c.4034-4300A>T (n.4034-4300A>T) c.3256A>T (p.Thr1086Ser) c.5170A>T (p.Thr1724Ser) c.3488-4300A>T (n.3488-4300A>T) c.4897A>T (p.Thr1633Ser) c.4351A>T (p.Thr1451Ser) c.4580-4300A>T (n.4580-4300A>T) c.4078A>T (p.Thr1360Ser) c.3761-4300A>T (n.3761-4300A>T) c.3529A>T (p.Thr1177Ser) c.5443A>T (p.Thr1815Ser) c.5167A>T (p.Thr1723Ser) | |
9 | g.115046641T>C | CA374631352 | TNC | c.318-4300A>G c.3215-4300A>G (n.3215-4300A>G) c.3805A>G (p.Thr1269Ala) c.1837A>G (p.Thr613Ala) c.493A>G (p.Thr165Ala) c.3852A>G c.4894A>G (p.Thr1632Ala) c.4348A>G (p.Thr1450Ala) c.4307-4300A>G (n.4307-4300A>G) n.212A>G n.253-4300A>G n.40-4300A>G c.581A>G c.52A>G (p.Thr18Ala) c.4621A>G (p.Thr1541Ala) c.4034-4300A>G (n.4034-4300A>G) c.3256A>G (p.Thr1086Ala) c.5170A>G (p.Thr1724Ala) c.3488-4300A>G (n.3488-4300A>G) c.4897A>G (p.Thr1633Ala) c.4351A>G (p.Thr1451Ala) c.4580-4300A>G (n.4580-4300A>G) c.4078A>G (p.Thr1360Ala) c.3761-4300A>G (n.3761-4300A>G) c.3529A>G (p.Thr1177Ala) c.5443A>G (p.Thr1815Ala) c.5167A>G (p.Thr1723Ala) | |
9 | g.115046641T>G | CA374631353 | TNC | c.318-4300A>C c.3215-4300A>C (n.3215-4300A>C) c.3805A>C (p.Thr1269Pro) c.1837A>C (p.Thr613Pro) c.493A>C (p.Thr165Pro) c.3852A>C c.4894A>C (p.Thr1632Pro) c.4348A>C (p.Thr1450Pro) c.4307-4300A>C (n.4307-4300A>C) n.212A>C n.253-4300A>C n.40-4300A>C c.581A>C c.52A>C (p.Thr18Pro) c.4621A>C (p.Thr1541Pro) c.4034-4300A>C (n.4034-4300A>C) c.3256A>C (p.Thr1086Pro) c.5170A>C (p.Thr1724Pro) c.3488-4300A>C (n.3488-4300A>C) c.4897A>C (p.Thr1633Pro) c.4351A>C (p.Thr1451Pro) c.4580-4300A>C (n.4580-4300A>C) c.4078A>C (p.Thr1360Pro) c.3761-4300A>C (n.3761-4300A>C) c.3529A>C (p.Thr1177Pro) c.5443A>C (p.Thr1815Pro) c.5167A>C (p.Thr1723Pro) | dbSNP |
9 | g.115046641T= | CA1874118953 | TNC | c.318-4300A= c.3215-4300A= (n.3215-4300A=) c.3805A= (p.Thr1269=) c.1837A= (p.Thr613=) c.493A= (p.Thr165=) c.3852A= c.4894A= (p.Thr1632=) c.4348A= (p.Thr1450=) c.4307-4300A= (n.4307-4300A=) n.212A= n.253-4300A= n.40-4300A= c.581A= c.52A= (p.Thr18=) c.4621A= (p.Thr1541=) c.4034-4300A= (n.4034-4300A=) c.3256A= (p.Thr1086=) c.5170A= (p.Thr1724=) c.3488-4300A= (n.3488-4300A=) c.4897A= (p.Thr1633=) c.4351A= (p.Thr1451=) c.4580-4300A= (n.4580-4300A=) c.4078A= (p.Thr1360=) c.3761-4300A= (n.3761-4300A=) c.3529A= (p.Thr1177=) c.5443A= (p.Thr1815=) c.5167A= (p.Thr1723=) | |
9 | g.115046642G>A | CA5207792 | TNC | c.318-4301C>T c.3215-4301C>T (n.3215-4301C>T) c.3804C>T (p.Ala1268=) c.1836C>T (p.Ala612=) c.492C>T (p.Ala164=) c.3851C>T c.4893C>T (p.Ala1631=) c.4347C>T (p.Ala1449=) c.4307-4301C>T (n.4307-4301C>T) n.211C>T n.253-4301C>T n.40-4301C>T c.580C>T c.51C>T (p.Ala17=) c.4620C>T (p.Ala1540=) c.4034-4301C>T (n.4034-4301C>T) c.3255C>T (p.Ala1085=) c.5169C>T (p.Ala1723=) c.3488-4301C>T (n.3488-4301C>T) c.4896C>T (p.Ala1632=) c.4350C>T (p.Ala1450=) c.4580-4301C>T (n.4580-4301C>T) c.4077C>T (p.Ala1359=) c.3761-4301C>T (n.3761-4301C>T) c.3528C>T (p.Ala1176=) c.5442C>T (p.Ala1814=) c.5166C>T (p.Ala1722=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.115046642G>C | CA466912219 | TNC | c.318-4301C>G c.3215-4301C>G (n.3215-4301C>G) c.3804C>G (p.Ala1268=) c.1836C>G (p.Ala612=) c.492C>G (p.Ala164=) c.3851C>G c.4893C>G (p.Ala1631=) c.4347C>G (p.Ala1449=) c.4307-4301C>G (n.4307-4301C>G) n.211C>G n.253-4301C>G n.40-4301C>G c.580C>G c.51C>G (p.Ala17=) c.4620C>G (p.Ala1540=) c.4034-4301C>G (n.4034-4301C>G) c.3255C>G (p.Ala1085=) c.5169C>G (p.Ala1723=) c.3488-4301C>G (n.3488-4301C>G) c.4896C>G (p.Ala1632=) c.4350C>G (p.Ala1450=) c.4580-4301C>G (n.4580-4301C>G) c.4077C>G (p.Ala1359=) c.3761-4301C>G (n.3761-4301C>G) c.3528C>G (p.Ala1176=) c.5442C>G (p.Ala1814=) c.5166C>G (p.Ala1722=) | |
9 | g.115046642G= | CA1874118954 | TNC | c.318-4301C= c.3215-4301C= (n.3215-4301C=) c.3804C= (p.Ala1268=) c.1836C= (p.Ala612=) c.492C= (p.Ala164=) c.3851C= c.4893C= (p.Ala1631=) c.4347C= (p.Ala1449=) c.4307-4301C= (n.4307-4301C=) n.211C= n.253-4301C= n.40-4301C= c.580C= c.51C= (p.Ala17=) c.4620C= (p.Ala1540=) c.4034-4301C= (n.4034-4301C=) c.3255C= (p.Ala1085=) c.5169C= (p.Ala1723=) c.3488-4301C= (n.3488-4301C=) c.4896C= (p.Ala1632=) c.4350C= (p.Ala1450=) c.4580-4301C= (n.4580-4301C=) c.4077C= (p.Ala1359=) c.3761-4301C= (n.3761-4301C=) c.3528C= (p.Ala1176=) c.5442C= (p.Ala1814=) c.5166C= (p.Ala1722=) | |
9 | g.115046642G>T | CA466912220 | TNC | c.318-4301C>A c.3215-4301C>A (n.3215-4301C>A) c.3804C>A (p.Ala1268=) c.1836C>A (p.Ala612=) c.492C>A (p.Ala164=) c.3851C>A c.4893C>A (p.Ala1631=) c.4347C>A (p.Ala1449=) c.4307-4301C>A (n.4307-4301C>A) n.211C>A n.253-4301C>A n.40-4301C>A c.580C>A c.51C>A (p.Ala17=) c.4620C>A (p.Ala1540=) c.4034-4301C>A (n.4034-4301C>A) c.3255C>A (p.Ala1085=) c.5169C>A (p.Ala1723=) c.3488-4301C>A (n.3488-4301C>A) c.4896C>A (p.Ala1632=) c.4350C>A (p.Ala1450=) c.4580-4301C>A (n.4580-4301C>A) c.4077C>A (p.Ala1359=) c.3761-4301C>A (n.3761-4301C>A) c.3528C>A (p.Ala1176=) c.5442C>A (p.Ala1814=) c.5166C>A (p.Ala1722=) | |
9 | g.115046643G>A | CA374631358 | TNC | c.318-4302C>T c.3215-4302C>T (n.3215-4302C>T) c.3803C>T (p.Ala1268Val) c.1835C>T (p.Ala612Val) c.491C>T (p.Ala164Val) c.3850C>T c.4892C>T (p.Ala1631Val) c.4346C>T (p.Ala1449Val) c.4307-4302C>T (n.4307-4302C>T) n.210C>T n.253-4302C>T n.40-4302C>T c.579C>T c.50C>T (p.Ala17Val) c.4619C>T (p.Ala1540Val) c.4034-4302C>T (n.4034-4302C>T) c.3254C>T (p.Ala1085Val) c.5168C>T (p.Ala1723Val) c.3488-4302C>T (n.3488-4302C>T) c.4895C>T (p.Ala1632Val) c.4349C>T (p.Ala1450Val) c.4580-4302C>T (n.4580-4302C>T) c.4076C>T (p.Ala1359Val) c.3761-4302C>T (n.3761-4302C>T) c.3527C>T (p.Ala1176Val) c.5441C>T (p.Ala1814Val) c.5165C>T (p.Ala1722Val) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.115046643G>C | CA374631355 | TNC | c.318-4302C>G c.3215-4302C>G (n.3215-4302C>G) c.3803C>G (p.Ala1268Gly) c.1835C>G (p.Ala612Gly) c.491C>G (p.Ala164Gly) c.3850C>G c.4892C>G (p.Ala1631Gly) c.4346C>G (p.Ala1449Gly) c.4307-4302C>G (n.4307-4302C>G) n.210C>G n.253-4302C>G n.40-4302C>G c.579C>G c.50C>G (p.Ala17Gly) c.4619C>G (p.Ala1540Gly) c.4034-4302C>G (n.4034-4302C>G) c.3254C>G (p.Ala1085Gly) c.5168C>G (p.Ala1723Gly) c.3488-4302C>G (n.3488-4302C>G) c.4895C>G (p.Ala1632Gly) c.4349C>G (p.Ala1450Gly) c.4580-4302C>G (n.4580-4302C>G) c.4076C>G (p.Ala1359Gly) c.3761-4302C>G (n.3761-4302C>G) c.3527C>G (p.Ala1176Gly) c.5441C>G (p.Ala1814Gly) c.5165C>G (p.Ala1722Gly) | |
9 | g.115046643G= | CA1874118955 | TNC | c.318-4302C= c.3215-4302C= (n.3215-4302C=) c.3803C= (p.Ala1268=) c.1835C= (p.Ala612=) c.491C= (p.Ala164=) c.3850C= c.4892C= (p.Ala1631=) c.4346C= (p.Ala1449=) c.4307-4302C= (n.4307-4302C=) n.210C= n.253-4302C= n.40-4302C= c.579C= c.50C= (p.Ala17=) c.4619C= (p.Ala1540=) c.4034-4302C= (n.4034-4302C=) c.3254C= (p.Ala1085=) c.5168C= (p.Ala1723=) c.3488-4302C= (n.3488-4302C=) c.4895C= (p.Ala1632=) c.4349C= (p.Ala1450=) c.4580-4302C= (n.4580-4302C=) c.4076C= (p.Ala1359=) c.3761-4302C= (n.3761-4302C=) c.3527C= (p.Ala1176=) c.5441C= (p.Ala1814=) c.5165C= (p.Ala1722=) | |
9 | g.115046643G>T | CA374631357 | TNC | c.318-4302C>A c.3215-4302C>A (n.3215-4302C>A) c.3803C>A (p.Ala1268Asp) c.1835C>A (p.Ala612Asp) c.491C>A (p.Ala164Asp) c.3850C>A c.4892C>A (p.Ala1631Asp) c.4346C>A (p.Ala1449Asp) c.4307-4302C>A (n.4307-4302C>A) n.210C>A n.253-4302C>A n.40-4302C>A c.579C>A c.50C>A (p.Ala17Asp) c.4619C>A (p.Ala1540Asp) c.4034-4302C>A (n.4034-4302C>A) c.3254C>A (p.Ala1085Asp) c.5168C>A (p.Ala1723Asp) c.3488-4302C>A (n.3488-4302C>A) c.4895C>A (p.Ala1632Asp) c.4349C>A (p.Ala1450Asp) c.4580-4302C>A (n.4580-4302C>A) c.4076C>A (p.Ala1359Asp) c.3761-4302C>A (n.3761-4302C>A) c.3527C>A (p.Ala1176Asp) c.5441C>A (p.Ala1814Asp) c.5165C>A (p.Ala1722Asp) | |
9 | g.115046644C>A | CA374631360 | TNC | c.318-4303G>T c.3215-4303G>T (n.3215-4303G>T) c.3802G>T (p.Ala1268Ser) c.1834G>T (p.Ala612Ser) c.490G>T (p.Ala164Ser) c.3849G>T c.4891G>T (p.Ala1631Ser) c.4345G>T (p.Ala1449Ser) c.4307-4303G>T (n.4307-4303G>T) n.209G>T n.253-4303G>T n.40-4303G>T c.578G>T c.49G>T (p.Ala17Ser) c.4618G>T (p.Ala1540Ser) c.4034-4303G>T (n.4034-4303G>T) c.3253G>T (p.Ala1085Ser) c.5167G>T (p.Ala1723Ser) c.3488-4303G>T (n.3488-4303G>T) c.4894G>T (p.Ala1632Ser) c.4348G>T (p.Ala1450Ser) c.4580-4303G>T (n.4580-4303G>T) c.4075G>T (p.Ala1359Ser) c.3761-4303G>T (n.3761-4303G>T) c.3526G>T (p.Ala1176Ser) c.5440G>T (p.Ala1814Ser) c.5164G>T (p.Ala1722Ser) | |
9 | g.115046644C>G | CA374631361 | TNC | c.318-4303G>C c.3215-4303G>C (n.3215-4303G>C) c.3802G>C (p.Ala1268Pro) c.1834G>C (p.Ala612Pro) c.490G>C (p.Ala164Pro) c.3849G>C c.4891G>C (p.Ala1631Pro) c.4345G>C (p.Ala1449Pro) c.4307-4303G>C (n.4307-4303G>C) n.209G>C n.253-4303G>C n.40-4303G>C c.578G>C c.49G>C (p.Ala17Pro) c.4618G>C (p.Ala1540Pro) c.4034-4303G>C (n.4034-4303G>C) c.3253G>C (p.Ala1085Pro) c.5167G>C (p.Ala1723Pro) c.3488-4303G>C (n.3488-4303G>C) c.4894G>C (p.Ala1632Pro) c.4348G>C (p.Ala1450Pro) c.4580-4303G>C (n.4580-4303G>C) c.4075G>C (p.Ala1359Pro) c.3761-4303G>C (n.3761-4303G>C) c.3526G>C (p.Ala1176Pro) c.5440G>C (p.Ala1814Pro) c.5164G>C (p.Ala1722Pro) | |
9 | g.115046644C>T | CA374631363 | TNC | c.318-4303G>A c.3215-4303G>A (n.3215-4303G>A) c.3802G>A (p.Ala1268Thr) c.1834G>A (p.Ala612Thr) c.490G>A (p.Ala164Thr) c.3849G>A c.4891G>A (p.Ala1631Thr) c.4345G>A (p.Ala1449Thr) c.4307-4303G>A (n.4307-4303G>A) n.209G>A n.253-4303G>A n.40-4303G>A c.578G>A c.49G>A (p.Ala17Thr) c.4618G>A (p.Ala1540Thr) c.4034-4303G>A (n.4034-4303G>A) c.3253G>A (p.Ala1085Thr) c.5167G>A (p.Ala1723Thr) c.3488-4303G>A (n.3488-4303G>A) c.4894G>A (p.Ala1632Thr) c.4348G>A (p.Ala1450Thr) c.4580-4303G>A (n.4580-4303G>A) c.4075G>A (p.Ala1359Thr) c.3761-4303G>A (n.3761-4303G>A) c.3526G>A (p.Ala1176Thr) c.5440G>A (p.Ala1814Thr) c.5164G>A (p.Ala1722Thr) | |
9 | g.115046645A= | CA1874118956 | TNC | c.318-4304T= c.3215-4304T= (n.3215-4304T=) c.3801T= (p.Asp1267=) c.1833T= (p.Asp611=) c.489T= (p.Asp163=) c.3848T= c.4890T= (p.Asp1630=) c.4344T= (p.Asp1448=) c.4307-4304T= (n.4307-4304T=) n.208T= n.253-4304T= n.40-4304T= c.577T= c.48T= (p.Asp16=) c.4617T= (p.Asp1539=) c.4034-4304T= (n.4034-4304T=) c.3252T= (p.Asp1084=) c.5166T= (p.Asp1722=) c.3488-4304T= (n.3488-4304T=) c.4893T= (p.Asp1631=) c.4347T= (p.Asp1449=) c.4580-4304T= (n.4580-4304T=) c.4074T= (p.Asp1358=) c.3761-4304T= (n.3761-4304T=) c.3525T= (p.Asp1175=) c.5439T= (p.Asp1813=) c.5163T= (p.Asp1721=) | |
9 | g.115046645A>C | CA5207793 | TNC | c.318-4304T>G c.3215-4304T>G (n.3215-4304T>G) c.3801T>G (p.Asp1267Glu) c.1833T>G (p.Asp611Glu) c.489T>G (p.Asp163Glu) c.3848T>G c.4890T>G (p.Asp1630Glu) c.4344T>G (p.Asp1448Glu) c.4307-4304T>G (n.4307-4304T>G) n.208T>G n.253-4304T>G n.40-4304T>G c.577T>G c.48T>G (p.Asp16Glu) c.4617T>G (p.Asp1539Glu) c.4034-4304T>G (n.4034-4304T>G) c.3252T>G (p.Asp1084Glu) c.5166T>G (p.Asp1722Glu) c.3488-4304T>G (n.3488-4304T>G) c.4893T>G (p.Asp1631Glu) c.4347T>G (p.Asp1449Glu) c.4580-4304T>G (n.4580-4304T>G) c.4074T>G (p.Asp1358Glu) c.3761-4304T>G (n.3761-4304T>G) c.3525T>G (p.Asp1175Glu) c.5439T>G (p.Asp1813Glu) c.5163T>G (p.Asp1721Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.115046645A>G | CA466912224 | TNC | c.318-4304T>C c.3215-4304T>C (n.3215-4304T>C) c.3801T>C (p.Asp1267=) c.1833T>C (p.Asp611=) c.489T>C (p.Asp163=) c.3848T>C c.4890T>C (p.Asp1630=) c.4344T>C (p.Asp1448=) c.4307-4304T>C (n.4307-4304T>C) n.208T>C n.253-4304T>C n.40-4304T>C c.577T>C c.48T>C (p.Asp16=) c.4617T>C (p.Asp1539=) c.4034-4304T>C (n.4034-4304T>C) c.3252T>C (p.Asp1084=) c.5166T>C (p.Asp1722=) c.3488-4304T>C (n.3488-4304T>C) c.4893T>C (p.Asp1631=) c.4347T>C (p.Asp1449=) c.4580-4304T>C (n.4580-4304T>C) c.4074T>C (p.Asp1358=) c.3761-4304T>C (n.3761-4304T>C) c.3525T>C (p.Asp1175=) c.5439T>C (p.Asp1813=) c.5163T>C (p.Asp1721=) | |
9 | g.115046645A>T | CA374631366 | TNC | c.318-4304T>A c.3215-4304T>A (n.3215-4304T>A) c.3801T>A (p.Asp1267Glu) c.1833T>A (p.Asp611Glu) c.489T>A (p.Asp163Glu) c.3848T>A c.4890T>A (p.Asp1630Glu) c.4344T>A (p.Asp1448Glu) c.4307-4304T>A (n.4307-4304T>A) n.208T>A n.253-4304T>A n.40-4304T>A c.577T>A c.48T>A (p.Asp16Glu) c.4617T>A (p.Asp1539Glu) c.4034-4304T>A (n.4034-4304T>A) c.3252T>A (p.Asp1084Glu) c.5166T>A (p.Asp1722Glu) c.3488-4304T>A (n.3488-4304T>A) c.4893T>A (p.Asp1631Glu) c.4347T>A (p.Asp1449Glu) c.4580-4304T>A (n.4580-4304T>A) c.4074T>A (p.Asp1358Glu) c.3761-4304T>A (n.3761-4304T>A) c.3525T>A (p.Asp1175Glu) c.5439T>A (p.Asp1813Glu) c.5163T>A (p.Asp1721Glu) | |
9 | g.115046646T>A | CA374631368 | TNC | c.318-4305A>T c.3215-4305A>T (n.3215-4305A>T) c.3800A>T (p.Asp1267Val) c.1832A>T (p.Asp611Val) c.488A>T (p.Asp163Val) c.3847A>T c.4889A>T (p.Asp1630Val) c.4343A>T (p.Asp1448Val) c.4307-4305A>T (n.4307-4305A>T) n.207A>T n.253-4305A>T n.40-4305A>T c.576A>T c.47A>T (p.Asp16Val) c.4616A>T (p.Asp1539Val) c.4034-4305A>T (n.4034-4305A>T) c.3251A>T (p.Asp1084Val) c.5165A>T (p.Asp1722Val) c.3488-4305A>T (n.3488-4305A>T) c.4892A>T (p.Asp1631Val) c.4346A>T (p.Asp1449Val) c.4580-4305A>T (n.4580-4305A>T) c.4073A>T (p.Asp1358Val) c.3761-4305A>T (n.3761-4305A>T) c.3524A>T (p.Asp1175Val) c.5438A>T (p.Asp1813Val) c.5162A>T (p.Asp1721Val) | |
9 | g.115046646T>C | CA374631371 | TNC | c.318-4305A>G c.3215-4305A>G (n.3215-4305A>G) c.3800A>G (p.Asp1267Gly) c.1832A>G (p.Asp611Gly) c.488A>G (p.Asp163Gly) c.3847A>G c.4889A>G (p.Asp1630Gly) c.4343A>G (p.Asp1448Gly) c.4307-4305A>G (n.4307-4305A>G) n.207A>G n.253-4305A>G n.40-4305A>G c.576A>G c.47A>G (p.Asp16Gly) c.4616A>G (p.Asp1539Gly) c.4034-4305A>G (n.4034-4305A>G) c.3251A>G (p.Asp1084Gly) c.5165A>G (p.Asp1722Gly) c.3488-4305A>G (n.3488-4305A>G) c.4892A>G (p.Asp1631Gly) c.4346A>G (p.Asp1449Gly) c.4580-4305A>G (n.4580-4305A>G) c.4073A>G (p.Asp1358Gly) c.3761-4305A>G (n.3761-4305A>G) c.3524A>G (p.Asp1175Gly) c.5438A>G (p.Asp1813Gly) c.5162A>G (p.Asp1721Gly) | |
9 | g.115046646T>G | CA374631370 | TNC | c.318-4305A>C c.3215-4305A>C (n.3215-4305A>C) c.3800A>C (p.Asp1267Ala) c.1832A>C (p.Asp611Ala) c.488A>C (p.Asp163Ala) c.3847A>C c.4889A>C (p.Asp1630Ala) c.4343A>C (p.Asp1448Ala) c.4307-4305A>C (n.4307-4305A>C) n.207A>C n.253-4305A>C n.40-4305A>C c.576A>C c.47A>C (p.Asp16Ala) c.4616A>C (p.Asp1539Ala) c.4034-4305A>C (n.4034-4305A>C) c.3251A>C (p.Asp1084Ala) c.5165A>C (p.Asp1722Ala) c.3488-4305A>C (n.3488-4305A>C) c.4892A>C (p.Asp1631Ala) c.4346A>C (p.Asp1449Ala) c.4580-4305A>C (n.4580-4305A>C) c.4073A>C (p.Asp1358Ala) c.3761-4305A>C (n.3761-4305A>C) c.3524A>C (p.Asp1175Ala) c.5438A>C (p.Asp1813Ala) c.5162A>C (p.Asp1721Ala) | |
9 | g.115046647C>A | CA374631373 | TNC | c.318-4306G>T c.3215-4306G>T (n.3215-4306G>T) c.3799G>T (p.Asp1267Tyr) c.1831G>T (p.Asp611Tyr) c.487G>T (p.Asp163Tyr) c.3846G>T c.4888G>T (p.Asp1630Tyr) c.4342G>T (p.Asp1448Tyr) c.4307-4306G>T (n.4307-4306G>T) n.206G>T n.253-4306G>T n.40-4306G>T c.575G>T c.46G>T (p.Asp16Tyr) c.4615G>T (p.Asp1539Tyr) c.4034-4306G>T (n.4034-4306G>T) c.3250G>T (p.Asp1084Tyr) c.5164G>T (p.Asp1722Tyr) c.3488-4306G>T (n.3488-4306G>T) c.4891G>T (p.Asp1631Tyr) c.4345G>T (p.Asp1449Tyr) c.4580-4306G>T (n.4580-4306G>T) c.4072G>T (p.Asp1358Tyr) c.3761-4306G>T (n.3761-4306G>T) c.3523G>T (p.Asp1175Tyr) c.5437G>T (p.Asp1813Tyr) c.5161G>T (p.Asp1721Tyr) | |
9 | g.115046647C= | CA1874118957 | TNC | c.318-4306G= c.3215-4306G= (n.3215-4306G=) c.3799G= (p.Asp1267=) c.1831G= (p.Asp611=) c.487G= (p.Asp163=) c.3846G= c.4888G= (p.Asp1630=) c.4342G= (p.Asp1448=) c.4307-4306G= (n.4307-4306G=) n.206G= n.253-4306G= n.40-4306G= c.575G= c.46G= (p.Asp16=) c.4615G= (p.Asp1539=) c.4034-4306G= (n.4034-4306G=) c.3250G= (p.Asp1084=) c.5164G= (p.Asp1722=) c.3488-4306G= (n.3488-4306G=) c.4891G= (p.Asp1631=) c.4345G= (p.Asp1449=) c.4580-4306G= (n.4580-4306G=) c.4072G= (p.Asp1358=) c.3761-4306G= (n.3761-4306G=) c.3523G= (p.Asp1175=) c.5437G= (p.Asp1813=) c.5161G= (p.Asp1721=) | |
9 | g.115046647C>G | CA374631374 | TNC | c.318-4306G>C c.3215-4306G>C (n.3215-4306G>C) c.3799G>C (p.Asp1267His) c.1831G>C (p.Asp611His) c.487G>C (p.Asp163His) c.3846G>C c.4888G>C (p.Asp1630His) c.4342G>C (p.Asp1448His) c.4307-4306G>C (n.4307-4306G>C) n.206G>C n.253-4306G>C n.40-4306G>C c.575G>C c.46G>C (p.Asp16His) c.4615G>C (p.Asp1539His) c.4034-4306G>C (n.4034-4306G>C) c.3250G>C (p.Asp1084His) c.5164G>C (p.Asp1722His) c.3488-4306G>C (n.3488-4306G>C) c.4891G>C (p.Asp1631His) c.4345G>C (p.Asp1449His) c.4580-4306G>C (n.4580-4306G>C) c.4072G>C (p.Asp1358His) c.3761-4306G>C (n.3761-4306G>C) c.3523G>C (p.Asp1175His) c.5437G>C (p.Asp1813His) c.5161G>C (p.Asp1721His) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.115046647C>T | CA374631376 | TNC | c.318-4306G>A c.3215-4306G>A (n.3215-4306G>A) c.3799G>A (p.Asp1267Asn) c.1831G>A (p.Asp611Asn) c.487G>A (p.Asp163Asn) c.3846G>A c.4888G>A (p.Asp1630Asn) c.4342G>A (p.Asp1448Asn) c.4307-4306G>A (n.4307-4306G>A) n.206G>A n.253-4306G>A n.40-4306G>A c.575G>A c.46G>A (p.Asp16Asn) c.4615G>A (p.Asp1539Asn) c.4034-4306G>A (n.4034-4306G>A) c.3250G>A (p.Asp1084Asn) c.5164G>A (p.Asp1722Asn) c.3488-4306G>A (n.3488-4306G>A) c.4891G>A (p.Asp1631Asn) c.4345G>A (p.Asp1449Asn) c.4580-4306G>A (n.4580-4306G>A) c.4072G>A (p.Asp1358Asn) c.3761-4306G>A (n.3761-4306G>A) c.3523G>A (p.Asp1175Asn) c.5437G>A (p.Asp1813Asn) c.5161G>A (p.Asp1721Asn) | |
9 | g.115046648T>A | CA466912226 | TNC | c.318-4307A>T c.3215-4307A>T (n.3215-4307A>T) c.3798A>T (p.Ser1266=) c.1830A>T (p.Ser610=) c.486A>T (p.Ser162=) c.3845A>T c.4887A>T (p.Ser1629=) c.4341A>T (p.Ser1447=) c.4307-4307A>T (n.4307-4307A>T) n.205A>T n.253-4307A>T n.40-4307A>T c.574A>T c.45A>T (p.Ser15=) c.4614A>T (p.Ser1538=) c.4034-4307A>T (n.4034-4307A>T) c.3249A>T (p.Ser1083=) c.5163A>T (p.Ser1721=) c.3488-4307A>T (n.3488-4307A>T) c.4890A>T (p.Ser1630=) c.4344A>T (p.Ser1448=) c.4580-4307A>T (n.4580-4307A>T) c.4071A>T (p.Ser1357=) c.3761-4307A>T (n.3761-4307A>T) c.3522A>T (p.Ser1174=) c.5436A>T (p.Ser1812=) c.5160A>T (p.Ser1720=) | dbSNP |
9 | g.115046648T>C | CA466912227 | TNC | c.318-4307A>G c.3215-4307A>G (n.3215-4307A>G) c.3798A>G (p.Ser1266=) c.1830A>G (p.Ser610=) c.486A>G (p.Ser162=) c.3845A>G c.4887A>G (p.Ser1629=) c.4341A>G (p.Ser1447=) c.4307-4307A>G (n.4307-4307A>G) n.205A>G n.253-4307A>G n.40-4307A>G c.574A>G c.45A>G (p.Ser15=) c.4614A>G (p.Ser1538=) c.4034-4307A>G (n.4034-4307A>G) c.3249A>G (p.Ser1083=) c.5163A>G (p.Ser1721=) c.3488-4307A>G (n.3488-4307A>G) c.4890A>G (p.Ser1630=) c.4344A>G (p.Ser1448=) c.4580-4307A>G (n.4580-4307A>G) c.4071A>G (p.Ser1357=) c.3761-4307A>G (n.3761-4307A>G) c.3522A>G (p.Ser1174=) c.5436A>G (p.Ser1812=) c.5160A>G (p.Ser1720=) | |
9 | g.115046648T>G | CA466912228 | TNC | c.318-4307A>C c.3215-4307A>C (n.3215-4307A>C) c.3798A>C (p.Ser1266=) c.1830A>C (p.Ser610=) c.486A>C (p.Ser162=) c.3845A>C c.4887A>C (p.Ser1629=) c.4341A>C (p.Ser1447=) c.4307-4307A>C (n.4307-4307A>C) n.205A>C n.253-4307A>C n.40-4307A>C c.574A>C c.45A>C (p.Ser15=) c.4614A>C (p.Ser1538=) c.4034-4307A>C (n.4034-4307A>C) c.3249A>C (p.Ser1083=) c.5163A>C (p.Ser1721=) c.3488-4307A>C (n.3488-4307A>C) c.4890A>C (p.Ser1630=) c.4344A>C (p.Ser1448=) c.4580-4307A>C (n.4580-4307A>C) c.4071A>C (p.Ser1357=) c.3761-4307A>C (n.3761-4307A>C) c.3522A>C (p.Ser1174=) c.5436A>C (p.Ser1812=) c.5160A>C (p.Ser1720=) | |
9 | g.115046649G>A | CA374631378 | TNC | c.318-4308C>T c.3215-4308C>T (n.3215-4308C>T) c.3797C>T (p.Ser1266Leu) c.1829C>T (p.Ser610Leu) c.485C>T (p.Ser162Leu) c.3844C>T c.4886C>T (p.Ser1629Leu) c.4340C>T (p.Ser1447Leu) c.4307-4308C>T (n.4307-4308C>T) n.204C>T n.253-4308C>T n.40-4308C>T c.573C>T c.44C>T (p.Ser15Leu) c.4613C>T (p.Ser1538Leu) c.4034-4308C>T (n.4034-4308C>T) c.3248C>T (p.Ser1083Leu) c.5162C>T (p.Ser1721Leu) c.3488-4308C>T (n.3488-4308C>T) c.4889C>T (p.Ser1630Leu) c.4343C>T (p.Ser1448Leu) c.4580-4308C>T (n.4580-4308C>T) c.4070C>T (p.Ser1357Leu) c.3761-4308C>T (n.3761-4308C>T) c.3521C>T (p.Ser1174Leu) c.5435C>T (p.Ser1812Leu) c.5159C>T (p.Ser1720Leu) | COSMIC |
9 | g.115046649G>C | CA5207794 | TNC | c.318-4308C>G c.3215-4308C>G (n.3215-4308C>G) c.3797C>G (p.Ser1266Ter) c.1829C>G (p.Ser610Ter) c.485C>G (p.Ser162Ter) c.3844C>G c.4886C>G (p.Ser1629Ter) c.4340C>G (p.Ser1447Ter) c.4307-4308C>G (n.4307-4308C>G) n.204C>G n.253-4308C>G n.40-4308C>G c.573C>G c.44C>G (p.Ser15Ter) c.4613C>G (p.Ser1538Ter) c.4034-4308C>G (n.4034-4308C>G) c.3248C>G (p.Ser1083Ter) c.5162C>G (p.Ser1721Ter) c.3488-4308C>G (n.3488-4308C>G) c.4889C>G (p.Ser1630Ter) c.4343C>G (p.Ser1448Ter) c.4580-4308C>G (n.4580-4308C>G) c.4070C>G (p.Ser1357Ter) c.3761-4308C>G (n.3761-4308C>G) c.3521C>G (p.Ser1174Ter) c.5435C>G (p.Ser1812Ter) c.5159C>G (p.Ser1720Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.115046649G= | CA1874118958 | TNC | c.318-4308C= c.3215-4308C= (n.3215-4308C=) c.3797C= (p.Ser1266=) c.1829C= (p.Ser610=) c.485C= (p.Ser162=) c.3844C= c.4886C= (p.Ser1629=) c.4340C= (p.Ser1447=) c.4307-4308C= (n.4307-4308C=) n.204C= n.253-4308C= n.40-4308C= c.573C= c.44C= (p.Ser15=) c.4613C= (p.Ser1538=) c.4034-4308C= (n.4034-4308C=) c.3248C= (p.Ser1083=) c.5162C= (p.Ser1721=) c.3488-4308C= (n.3488-4308C=) c.4889C= (p.Ser1630=) c.4343C= (p.Ser1448=) c.4580-4308C= (n.4580-4308C=) c.4070C= (p.Ser1357=) c.3761-4308C= (n.3761-4308C=) c.3521C= (p.Ser1174=) c.5435C= (p.Ser1812=) c.5159C= (p.Ser1720=) | |
9 | g.115046649G>T | CA374631379 | TNC | c.318-4308C>A c.3215-4308C>A (n.3215-4308C>A) c.3797C>A (p.Ser1266Ter) c.1829C>A (p.Ser610Ter) c.485C>A (p.Ser162Ter) c.3844C>A c.4886C>A (p.Ser1629Ter) c.4340C>A (p.Ser1447Ter) c.4307-4308C>A (n.4307-4308C>A) n.204C>A n.253-4308C>A n.40-4308C>A c.573C>A c.44C>A (p.Ser15Ter) c.4613C>A (p.Ser1538Ter) c.4034-4308C>A (n.4034-4308C>A) c.3248C>A (p.Ser1083Ter) c.5162C>A (p.Ser1721Ter) c.3488-4308C>A (n.3488-4308C>A) c.4889C>A (p.Ser1630Ter) c.4343C>A (p.Ser1448Ter) c.4580-4308C>A (n.4580-4308C>A) c.4070C>A (p.Ser1357Ter) c.3761-4308C>A (n.3761-4308C>A) c.3521C>A (p.Ser1174Ter) c.5435C>A (p.Ser1812Ter) c.5159C>A (p.Ser1720Ter) | |
9 | g.115046650A>C | CA374631381 | TNC | c.318-4309T>G c.3215-4309T>G (n.3215-4309T>G) c.3796T>G (p.Ser1266Ala) c.1828T>G (p.Ser610Ala) c.484T>G (p.Ser162Ala) c.3843T>G c.4885T>G (p.Ser1629Ala) c.4339T>G (p.Ser1447Ala) c.4307-4309T>G (n.4307-4309T>G) n.203T>G n.253-4309T>G n.40-4309T>G c.572T>G c.43T>G (p.Ser15Ala) c.4612T>G (p.Ser1538Ala) c.4034-4309T>G (n.4034-4309T>G) c.3247T>G (p.Ser1083Ala) c.5161T>G (p.Ser1721Ala) c.3488-4309T>G (n.3488-4309T>G) c.4888T>G (p.Ser1630Ala) c.4342T>G (p.Ser1448Ala) c.4580-4309T>G (n.4580-4309T>G) c.4069T>G (p.Ser1357Ala) c.3761-4309T>G (n.3761-4309T>G) c.3520T>G (p.Ser1174Ala) c.5434T>G (p.Ser1812Ala) c.5158T>G (p.Ser1720Ala) | |
9 | g.115046650A>G | CA374631383 | TNC | c.318-4309T>C c.3215-4309T>C (n.3215-4309T>C) c.3796T>C (p.Ser1266Pro) c.1828T>C (p.Ser610Pro) c.484T>C (p.Ser162Pro) c.3843T>C c.4885T>C (p.Ser1629Pro) c.4339T>C (p.Ser1447Pro) c.4307-4309T>C (n.4307-4309T>C) n.203T>C n.253-4309T>C n.40-4309T>C c.572T>C c.43T>C (p.Ser15Pro) c.4612T>C (p.Ser1538Pro) c.4034-4309T>C (n.4034-4309T>C) c.3247T>C (p.Ser1083Pro) c.5161T>C (p.Ser1721Pro) c.3488-4309T>C (n.3488-4309T>C) c.4888T>C (p.Ser1630Pro) c.4342T>C (p.Ser1448Pro) c.4580-4309T>C (n.4580-4309T>C) c.4069T>C (p.Ser1357Pro) c.3761-4309T>C (n.3761-4309T>C) c.3520T>C (p.Ser1174Pro) c.5434T>C (p.Ser1812Pro) c.5158T>C (p.Ser1720Pro) | |
9 | g.115046650A>T | CA374631385 | TNC | c.318-4309T>A c.3215-4309T>A (n.3215-4309T>A) c.3796T>A (p.Ser1266Thr) c.1828T>A (p.Ser610Thr) c.484T>A (p.Ser162Thr) c.3843T>A c.4885T>A (p.Ser1629Thr) c.4339T>A (p.Ser1447Thr) c.4307-4309T>A (n.4307-4309T>A) n.203T>A n.253-4309T>A n.40-4309T>A c.572T>A c.43T>A (p.Ser15Thr) c.4612T>A (p.Ser1538Thr) c.4034-4309T>A (n.4034-4309T>A) c.3247T>A (p.Ser1083Thr) c.5161T>A (p.Ser1721Thr) c.3488-4309T>A (n.3488-4309T>A) c.4888T>A (p.Ser1630Thr) c.4342T>A (p.Ser1448Thr) c.4580-4309T>A (n.4580-4309T>A) c.4069T>A (p.Ser1357Thr) c.3761-4309T>A (n.3761-4309T>A) c.3520T>A (p.Ser1174Thr) c.5434T>A (p.Ser1812Thr) c.5158T>A (p.Ser1720Thr) | |
9 | g.115046651A>C | CA466912231 | TNC | c.318-4310T>G c.3215-4310T>G (n.3215-4310T>G) c.3795T>G (p.Val1265=) c.1827T>G (p.Val609=) c.483T>G (p.Val161=) c.3842T>G c.4884T>G (p.Val1628=) c.4338T>G (p.Val1446=) c.4307-4310T>G (n.4307-4310T>G) n.202T>G n.253-4310T>G n.40-4310T>G c.571T>G c.42T>G (p.Val14=) c.4611T>G (p.Val1537=) c.4034-4310T>G (n.4034-4310T>G) c.3246T>G (p.Val1082=) c.5160T>G (p.Val1720=) c.3488-4310T>G (n.3488-4310T>G) c.4887T>G (p.Val1629=) c.4341T>G (p.Val1447=) c.4580-4310T>G (n.4580-4310T>G) c.4068T>G (p.Val1356=) c.3761-4310T>G (n.3761-4310T>G) c.3519T>G (p.Val1173=) c.5433T>G (p.Val1811=) c.5157T>G (p.Val1719=) | |
9 | g.115046651A>G | CA466912232 | TNC | c.318-4310T>C c.3215-4310T>C (n.3215-4310T>C) c.3795T>C (p.Val1265=) c.1827T>C (p.Val609=) c.483T>C (p.Val161=) c.3842T>C c.4884T>C (p.Val1628=) c.4338T>C (p.Val1446=) c.4307-4310T>C (n.4307-4310T>C) n.202T>C n.253-4310T>C n.40-4310T>C c.571T>C c.42T>C (p.Val14=) c.4611T>C (p.Val1537=) c.4034-4310T>C (n.4034-4310T>C) c.3246T>C (p.Val1082=) c.5160T>C (p.Val1720=) c.3488-4310T>C (n.3488-4310T>C) c.4887T>C (p.Val1629=) c.4341T>C (p.Val1447=) c.4580-4310T>C (n.4580-4310T>C) c.4068T>C (p.Val1356=) c.3761-4310T>C (n.3761-4310T>C) c.3519T>C (p.Val1173=) c.5433T>C (p.Val1811=) c.5157T>C (p.Val1719=) | |
9 | g.115046651A>T | CA466912233 | TNC | c.318-4310T>A c.3215-4310T>A (n.3215-4310T>A) c.3795T>A (p.Val1265=) c.1827T>A (p.Val609=) c.483T>A (p.Val161=) c.3842T>A c.4884T>A (p.Val1628=) c.4338T>A (p.Val1446=) c.4307-4310T>A (n.4307-4310T>A) n.202T>A n.253-4310T>A n.40-4310T>A c.571T>A c.42T>A (p.Val14=) c.4611T>A (p.Val1537=) c.4034-4310T>A (n.4034-4310T>A) c.3246T>A (p.Val1082=) c.5160T>A (p.Val1720=) c.3488-4310T>A (n.3488-4310T>A) c.4887T>A (p.Val1629=) c.4341T>A (p.Val1447=) c.4580-4310T>A (n.4580-4310T>A) c.4068T>A (p.Val1356=) c.3761-4310T>A (n.3761-4310T>A) c.3519T>A (p.Val1173=) c.5433T>A (p.Val1811=) c.5157T>A (p.Val1719=) |