Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.24127608A>C | CA432916326 | THRB | c.1035T>G (p.Gly345=) c.*1664T>G (n.*1664T>G) c.1080T>G (p.Gly360=) c.942T>G (p.Gly314=) c.973+62T>G (n.973+62T>G) | |
3 | g.24127608A>G | CA432916327 | THRB | c.1035T>C (p.Gly345=) c.*1664T>C (n.*1664T>C) c.1080T>C (p.Gly360=) c.942T>C (p.Gly314=) c.973+62T>C (n.973+62T>C) | |
3 | g.24127608A>T | CA432916330 | THRB | c.1035T>A (p.Gly345=) c.*1664T>A (n.*1664T>A) c.1080T>A (p.Gly360=) c.942T>A (p.Gly314=) c.973+62T>A (n.973+62T>A) | |
3 | g.24127609C>A | CA122473 | THRB | c.1034G>T (p.Gly345Val) c.*1663G>T (n.*1663G>T) c.1079G>T (p.Gly360Val) c.941G>T (p.Gly314Val) c.973+61G>T (n.973+61G>T) | ClinVar dbSNP |
3 | g.24127609C= | CA1351825314 | THRB | c.1034G= (p.Gly345=) c.*1663G= (n.*1663G=) c.1079G= (p.Gly360=) c.941G= (p.Gly314=) c.973+61G= (n.973+61G=) | |
3 | g.24127609C>G | CA351888713 | THRB | c.1034G>C (p.Gly345Ala) c.*1663G>C (n.*1663G>C) c.1079G>C (p.Gly360Ala) c.941G>C (p.Gly314Ala) c.973+61G>C (n.973+61G>C) | |
3 | g.24127609C>T | CA122471 | THRB | c.1034G>A (p.Gly345Asp) c.*1663G>A (n.*1663G>A) c.1079G>A (p.Gly360Asp) c.941G>A (p.Gly314Asp) c.973+61G>A (n.973+61G>A) | ClinVar dbSNP |
3 | g.24127610C>A | CA351888714 | THRB | c.1033G>T (p.Gly345Cys) c.*1662G>T (n.*1662G>T) c.1078G>T (p.Gly360Cys) c.940G>T (p.Gly314Cys) c.973+60G>T (n.973+60G>T) | ClinVar dbSNP |
3 | g.24127610C= | CA1351825315 | THRB | c.1033G= (p.Gly345=) c.*1662G= (n.*1662G=) c.1078G= (p.Gly360=) c.940G= (p.Gly314=) c.973+60G= (n.973+60G=) | |
3 | g.24127610C>G | CA122452 | THRB | c.1033G>C (p.Gly345Arg) c.*1662G>C (n.*1662G>C) c.1078G>C (p.Gly360Arg) c.940G>C (p.Gly314Arg) c.973+60G>C (n.973+60G>C) | ClinVar dbSNP |
3 | g.24127610C>T | CA122485 | THRB | c.1033G>A (p.Gly345Ser) c.*1662G>A (n.*1662G>A) c.1078G>A (p.Gly360Ser) c.940G>A (p.Gly314Ser) c.973+60G>A (n.973+60G>A) | ClinVar dbSNP |
3 | g.24127611C>A | CA432916334 | THRB | c.1032G>T (p.Gly344=) c.*1661G>T (n.*1661G>T) c.1077G>T (p.Gly359=) c.939G>T (p.Gly313=) c.973+59G>T (n.973+59G>T) | |
3 | g.24127611C>G | CA432916336 | THRB | c.1032G>C (p.Gly344=) c.*1661G>C (n.*1661G>C) c.1077G>C (p.Gly359=) c.939G>C (p.Gly313=) c.973+59G>C (n.973+59G>C) | |
3 | g.24127611C>T | CA432916337 | THRB | c.1032G>A (p.Gly344=) c.*1661G>A (n.*1661G>A) c.1077G>A (p.Gly359=) c.939G>A (p.Gly313=) c.973+59G>A (n.973+59G>A) | |
3 | g.24127612C>A | CA351888717 | THRB | c.1031G>T (p.Gly344Val) c.*1660G>T (n.*1660G>T) c.1076G>T (p.Gly359Val) c.938G>T (p.Gly313Val) c.973+58G>T (n.973+58G>T) | |
3 | g.24127612C= | CA1351825316 | THRB | c.1031G= (p.Gly344=) c.*1660G= (n.*1660G=) c.1076G= (p.Gly359=) c.938G= (p.Gly313=) c.973+58G= (n.973+58G=) | |
3 | g.24127612C>G | CA351888715 | THRB | c.1031G>C (p.Gly344Ala) c.*1660G>C (n.*1660G>C) c.1076G>C (p.Gly359Ala) c.938G>C (p.Gly313Ala) c.973+58G>C (n.973+58G>C) | |
3 | g.24127612C>T | CA351888716 | THRB | c.1031G>A (p.Gly344Glu) c.*1660G>A (n.*1660G>A) c.1076G>A (p.Gly359Glu) c.938G>A (p.Gly313Glu) c.973+58G>A (n.973+58G>A) | ClinVar dbSNP |
3 | g.24127613C>A | CA351888718 | THRB | c.1030G>T (p.Gly344Trp) c.*1659G>T (n.*1659G>T) c.1075G>T (p.Gly359Trp) c.937G>T (p.Gly313Trp) c.973+57G>T (n.973+57G>T) | |
3 | g.24127613C>G | CA351888719 | THRB | c.1030G>C (p.Gly344Arg) c.*1659G>C (n.*1659G>C) c.1075G>C (p.Gly359Arg) c.937G>C (p.Gly313Arg) c.973+57G>C (n.973+57G>C) | |
3 | g.24127613C>T | CA351888720 | THRB | c.1030G>A (p.Gly344Arg) c.*1659G>A (n.*1659G>A) c.1075G>A (p.Gly359Arg) c.937G>A (p.Gly313Arg) c.973+57G>A (n.973+57G>A) | ClinVar |
3 | g.24127614A= | CA1351825318 | THRB | c.1029T= (p.Asn343=) c.*1658T= (n.*1658T=) c.1074T= (p.Asn358=) c.936T= (p.Asn312=) c.973+56T= (n.973+56T=) | |
3 | g.24127614A>C | CA351888721 | THRB | c.1029T>G (p.Asn343Lys) c.*1658T>G (n.*1658T>G) c.1074T>G (p.Asn358Lys) c.936T>G (p.Asn312Lys) c.973+56T>G (n.973+56T>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.24127614A>G | CA432916340 | THRB | c.1029T>C (p.Asn343=) c.*1658T>C (n.*1658T>C) c.1074T>C (p.Asn358=) c.936T>C (p.Asn312=) c.973+56T>C (n.973+56T>C) | gnomAD v4 |
3 | g.24127614A>T | CA351888722 | THRB | c.1029T>A (p.Asn343Lys) c.*1658T>A (n.*1658T>A) c.1074T>A (p.Asn358Lys) c.936T>A (p.Asn312Lys) c.973+56T>A (n.973+56T>A) | |
3 | g.24127615T>A | CA351888723 | THRB | c.1028A>T (p.Asn343Ile) c.*1657A>T (n.*1657A>T) c.1073A>T (p.Asn358Ile) c.935A>T (p.Asn312Ile) c.973+55A>T (n.973+55A>T) | |
3 | g.24127615T>C | CA351888724 | THRB | c.1028A>G (p.Asn343Ser) c.*1657A>G (n.*1657A>G) c.1073A>G (p.Asn358Ser) c.935A>G (p.Asn312Ser) c.973+55A>G (n.973+55A>G) | |
3 | g.24127615T>G | CA351888725 | THRB | c.1028A>C (p.Asn343Thr) c.*1657A>C (n.*1657A>C) c.1073A>C (p.Asn358Thr) c.935A>C (p.Asn312Thr) c.973+55A>C (n.973+55A>C) | ClinVar dbSNP |
3 | g.24127615T= | CA1351825320 | THRB | c.1028A= (p.Asn343=) c.*1657A= (n.*1657A=) c.1073A= (p.Asn358=) c.935A= (p.Asn312=) c.973+55A= (n.973+55A=) | |
3 | g.24127616T>A | CA351888726 | THRB | c.1027A>T (p.Asn343Tyr) c.*1656A>T (n.*1656A>T) c.1072A>T (p.Asn358Tyr) c.934A>T (p.Asn312Tyr) c.973+54A>T (n.973+54A>T) | |
3 | g.24127616T>C | CA351888727 | THRB | c.1027A>G (p.Asn343Asp) c.*1656A>G (n.*1656A>G) c.1072A>G (p.Asn358Asp) c.934A>G (p.Asn312Asp) c.973+54A>G (n.973+54A>G) | |
3 | g.24127616T>G | CA351888728 | THRB | c.1027A>C (p.Asn343His) c.*1656A>C (n.*1656A>C) c.1072A>C (p.Asn358His) c.934A>C (p.Asn312His) c.973+54A>C (n.973+54A>C) | |
3 | g.24127617T>A | CA351888729 | THRB | c.1026A>T (p.Lys342Asn) c.*1655A>T (n.*1655A>T) c.1071A>T (p.Lys357Asn) c.933A>T (p.Lys311Asn) c.973+53A>T (n.973+53A>T) | |
3 | g.24127617T>C | CA432916341 | THRB | c.1026A>G (p.Lys342=) c.*1655A>G (n.*1655A>G) c.1071A>G (p.Lys357=) c.933A>G (p.Lys311=) c.973+53A>G (n.973+53A>G) | |
3 | g.24127617T>G | CA351888730 | THRB | c.1026A>C (p.Lys342Asn) c.*1655A>C (n.*1655A>C) c.1071A>C (p.Lys357Asn) c.933A>C (p.Lys311Asn) c.973+53A>C (n.973+53A>C) | |
3 | g.24127618T>A | CA351888732 | THRB | c.1025A>T (p.Lys342Ile) c.*1654A>T (n.*1654A>T) c.1070A>T (p.Lys357Ile) c.932A>T (p.Lys311Ile) c.973+52A>T (n.973+52A>T) | |
3 | g.24127618T>C | CA351888733 | THRB | c.1025A>G (p.Lys342Arg) c.*1654A>G (n.*1654A>G) c.1070A>G (p.Lys357Arg) c.932A>G (p.Lys311Arg) c.973+52A>G (n.973+52A>G) | gnomAD v4 |
3 | g.24127618T>G | CA351888731 | THRB | c.1025A>C (p.Lys342Thr) c.*1654A>C (n.*1654A>C) c.1070A>C (p.Lys357Thr) c.932A>C (p.Lys311Thr) c.973+52A>C (n.973+52A>C) | |
3 | g.24127619T>A | CA351888736 | THRB | c.1024A>T (p.Lys342Ter) c.*1653A>T (n.*1653A>T) c.1069A>T (p.Lys357Ter) c.931A>T (p.Lys311Ter) c.973+51A>T (n.973+51A>T) | |
3 | g.24127619T>C | CA351888734 | THRB | c.1024A>G (p.Lys342Glu) c.*1653A>G (n.*1653A>G) c.1069A>G (p.Lys357Glu) c.931A>G (p.Lys311Glu) c.973+51A>G (n.973+51A>G) | |
3 | g.24127619T>G | CA351888735 | THRB | c.1024A>C (p.Lys342Gln) c.*1653A>C (n.*1653A>C) c.1069A>C (p.Lys357Gln) c.931A>C (p.Lys311Gln) c.973+51A>C (n.973+51A>C) | |
3 | g.24127620C>A | CA432916179 | THRB | c.1023G>T (p.Leu341=) c.*1652G>T (n.*1652G>T) c.1068G>T (p.Leu356=) c.930G>T (p.Leu310=) c.973+50G>T (n.973+50G>T) | |
3 | g.24127620C>G | CA432916176 | THRB | c.1023G>C (p.Leu341=) c.*1652G>C (n.*1652G>C) c.1068G>C (p.Leu356=) c.930G>C (p.Leu310=) c.973+50G>C (n.973+50G>C) | |
3 | g.24127620C>T | CA432916178 | THRB | c.1023G>A (p.Leu341=) c.*1652G>A (n.*1652G>A) c.1068G>A (p.Leu356=) c.930G>A (p.Leu310=) c.973+50G>A (n.973+50G>A) | COSMIC |
3 | g.24127621A= | CA1351825322 | THRB | c.1022T= (p.Leu341=) c.*1651T= (n.*1651T=) c.1067T= (p.Leu356=) c.929T= (p.Leu310=) c.973+49T= (n.973+49T=) | |
3 | g.24127621A>C | CA351888737 | THRB | c.1022T>G (p.Leu341Arg) c.*1651T>G (n.*1651T>G) c.1067T>G (p.Leu356Arg) c.929T>G (p.Leu310Arg) c.973+49T>G (n.973+49T>G) | |
3 | g.24127621A>G | CA351888738 | THRB | c.1022T>C (p.Leu341Pro) c.*1651T>C (n.*1651T>C) c.1067T>C (p.Leu356Pro) c.929T>C (p.Leu310Pro) c.973+49T>C (n.973+49T>C) | ClinVar dbSNP |
3 | g.24127621A>T | CA351888739 | THRB | c.1022T>A (p.Leu341Gln) c.*1651T>A (n.*1651T>A) c.1067T>A (p.Leu356Gln) c.929T>A (p.Leu310Gln) c.973+49T>A (n.973+49T>A) | |
3 | g.24127622G>A | CA432916180 | THRB | c.1021C>T (p.Leu341=) c.*1650C>T (n.*1650C>T) c.1066C>T (p.Leu356=) c.928C>T (p.Leu310=) c.973+48C>T (n.973+48C>T) | |
3 | g.24127622G>C | CA351888740 | THRB | c.1021C>G (p.Leu341Val) c.*1650C>G (n.*1650C>G) c.1066C>G (p.Leu356Val) c.928C>G (p.Leu310Val) c.973+48C>G (n.973+48C>G) | ClinVar dbSNP |