Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.32082290T>A | CA3735169 | TNXB | c.3482A>T (p.His1161Leu) c.4223A>T (p.His1408Leu) c.3743A>T (p.His1248Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.32082290T>C | CA3735168 | TNXB | c.3482A>G (p.His1161Arg) c.4223A>G (p.His1408Arg) c.3743A>G (p.His1248Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.32082290T>G | CA363438986 | TNXB | c.3482A>C (p.His1161Pro) c.4223A>C (p.His1408Pro) c.3743A>C (p.His1248Pro) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.32082290T= | CA1619416847 | TNXB | c.3482A= (p.His1161=) c.4223A= (p.His1408=) c.3743A= (p.His1248=) | |
6 | g.32082291G>A | CA363438996 | TNXB | c.3481C>T (p.His1161Tyr) c.4222C>T (p.His1408Tyr) c.3742C>T (p.His1248Tyr) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.32082291G>C | CA363438999 | TNXB | c.3481C>G (p.His1161Asp) c.4222C>G (p.His1408Asp) c.3742C>G (p.His1248Asp) | gnomAD v4 |
6 | g.32082291G= | CA1619416848 | TNXB | c.3481C= (p.His1161=) c.4222C= (p.His1408=) c.3742C= (p.His1248=) | |
6 | g.32082291G>T | CA136896924 | TNXB | c.3481C>A (p.His1161Asn) c.4222C>A (p.His1408Asn) c.3742C>A (p.His1248Asn) | dbSNP |
6 | g.32082292G>A | CA449823036 | TNXB | c.3480C>T (p.Pro1160=) c.4221C>T (p.Pro1407=) c.3741C>T (p.Pro1247=) | dbSNP gnomAD v4 COSMIC COSMIC |
6 | g.32082292G>C | CA449823037 | TNXB | c.3480C>G (p.Pro1160=) c.4221C>G (p.Pro1407=) c.3741C>G (p.Pro1247=) | |
6 | g.32082292G= | CA1619416849 | TNXB | c.3480C= (p.Pro1160=) c.4221C= (p.Pro1407=) c.3741C= (p.Pro1247=) | |
6 | g.32082292G>T | CA449823038 | TNXB | c.3480C>A (p.Pro1160=) c.4221C>A (p.Pro1407=) c.3741C>A (p.Pro1247=) | gnomAD v4 |
6 | g.32082293G>A | CA363439002 | TNXB | c.3479C>T (p.Pro1160Leu) c.4220C>T (p.Pro1407Leu) c.3740C>T (p.Pro1247Leu) | gnomAD v4 |
6 | g.32082293G>C | CA363439007 | TNXB | c.3479C>G (p.Pro1160Arg) c.4220C>G (p.Pro1407Arg) c.3740C>G (p.Pro1247Arg) | |
6 | g.32082293G>T | CA363439011 | TNXB | c.3479C>A (p.Pro1160His) c.4220C>A (p.Pro1407His) c.3740C>A (p.Pro1247His) | |
6 | g.32082294G>A | CA363439015 | TNXB | c.3478C>T (p.Pro1160Ser) c.4219C>T (p.Pro1407Ser) c.3739C>T (p.Pro1247Ser) | |
6 | g.32082294G>C | CA363439023 | TNXB | c.3478C>G (p.Pro1160Ala) c.4219C>G (p.Pro1407Ala) c.3739C>G (p.Pro1247Ala) | |
6 | g.32082294G>T | CA363439018 | TNXB | c.3478C>A (p.Pro1160Thr) c.4219C>A (p.Pro1407Thr) c.3739C>A (p.Pro1247Thr) | |
6 | g.32082295T>A | CA449823042 | TNXB | c.3477A>T (p.Pro1159=) c.4218A>T (p.Pro1406=) c.3738A>T (p.Pro1246=) | |
6 | g.32082295T>C | CA449823043 | TNXB | c.3477A>G (p.Pro1159=) c.4218A>G (p.Pro1406=) c.3738A>G (p.Pro1246=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.32082295T>G | CA449823044 | TNXB | c.3477A>C (p.Pro1159=) c.4218A>C (p.Pro1406=) c.3738A>C (p.Pro1246=) | |
6 | g.32082295T= | CA1619416850 | TNXB | c.3477A= (p.Pro1159=) c.4218A= (p.Pro1406=) c.3738A= (p.Pro1246=) | |
6 | g.32082296G>A | CA3735170 | TNXB | c.3476C>T (p.Pro1159Leu) c.4217C>T (p.Pro1406Leu) c.3737C>T (p.Pro1246Leu) | dbSNP ExAC gnomAD v2 |
6 | g.32082296G>C | CA363439029 | TNXB | c.3476C>G (p.Pro1159Arg) c.4217C>G (p.Pro1406Arg) c.3737C>G (p.Pro1246Arg) | |
6 | g.32082296G= | CA1619416851 | TNXB | c.3476C= (p.Pro1159=) c.4217C= (p.Pro1406=) c.3737C= (p.Pro1246=) | |
6 | g.32082296G>T | CA363439042 | TNXB | c.3476C>A (p.Pro1159Gln) c.4217C>A (p.Pro1406Gln) c.3737C>A (p.Pro1246Gln) | |
6 | g.32082297G>A | CA363439046 | TNXB | c.3475C>T (p.Pro1159Ser) c.4216C>T (p.Pro1406Ser) c.3736C>T (p.Pro1246Ser) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.32082297G>C | CA363439062 | TNXB | c.3475C>G (p.Pro1159Ala) c.4216C>G (p.Pro1406Ala) c.3736C>G (p.Pro1246Ala) | ClinVar gnomAD v4 |
6 | g.32082297G= | CA1619416852 | TNXB | c.3475C= (p.Pro1159=) c.4216C= (p.Pro1406=) c.3736C= (p.Pro1246=) | |
6 | g.32082297G>T | CA363439074 | TNXB | c.3475C>A (p.Pro1159Thr) c.4216C>A (p.Pro1406Thr) c.3736C>A (p.Pro1246Thr) | |
6 | g.32082298A>C | CA449823048 | TNXB | c.3474T>G (p.Thr1158=) c.4215T>G (p.Thr1405=) c.3735T>G (p.Thr1245=) | |
6 | g.32082298A>G | CA449823049 | TNXB | c.3474T>C (p.Thr1158=) c.4215T>C (p.Thr1405=) c.3735T>C (p.Thr1245=) | gnomAD v4 |
6 | g.32082298A>T | CA449823050 | TNXB | c.3474T>A (p.Thr1158=) c.4215T>A (p.Thr1405=) c.3735T>A (p.Thr1245=) | |
6 | g.32082299G>A | CA363439085 | TNXB | c.3473C>T (p.Thr1158Ile) c.4214C>T (p.Thr1405Ile) c.3734C>T (p.Thr1245Ile) | dbSNP gnomAD v4 |
6 | g.32082299G>C | CA363439098 | TNXB | c.3473C>G (p.Thr1158Ser) c.4214C>G (p.Thr1405Ser) c.3734C>G (p.Thr1245Ser) | |
6 | g.32082299G= | CA1619416853 | TNXB | c.3473C= (p.Thr1158=) c.4214C= (p.Thr1405=) c.3734C= (p.Thr1245=) | |
6 | g.32082299G>T | CA363439102 | TNXB | c.3473C>A (p.Thr1158Asn) c.4214C>A (p.Thr1405Asn) c.3734C>A (p.Thr1245Asn) | gnomAD v4 |
6 | g.32082300T>A | CA363439104 | TNXB | c.3472A>T (p.Thr1158Ser) c.4213A>T (p.Thr1405Ser) c.3733A>T (p.Thr1245Ser) | |
6 | g.32082300T>C | CA363439106 | TNXB | c.3472A>G (p.Thr1158Ala) c.4213A>G (p.Thr1405Ala) c.3733A>G (p.Thr1245Ala) | |
6 | g.32082300T>G | CA363439108 | TNXB | c.3472A>C (p.Thr1158Pro) c.4213A>C (p.Thr1405Pro) c.3733A>C (p.Thr1245Pro) | gnomAD v3 gnomAD v4 |
6 | g.32082301C>A | CA449823055 | TNXB | c.3471G>T (p.Gly1157=) c.4212G>T (p.Gly1404=) c.3732G>T (p.Gly1244=) | |
6 | g.32082301C>G | CA449823057 | TNXB | c.3471G>C (p.Gly1157=) c.4212G>C (p.Gly1404=) c.3732G>C (p.Gly1244=) | gnomAD v4 |
6 | g.32082301C>T | CA449823056 | TNXB | c.3471G>A (p.Gly1157=) c.4212G>A (p.Gly1404=) c.3732G>A (p.Gly1244=) | COSMIC COSMIC |
6 | g.32082302C>A | CA363439114 | TNXB | c.3470G>T (p.Gly1157Val) c.4211G>T (p.Gly1404Val) c.3731G>T (p.Gly1244Val) | |
6 | g.32082302C>G | CA363439140 | TNXB | c.3470G>C (p.Gly1157Ala) c.4211G>C (p.Gly1404Ala) c.3731G>C (p.Gly1244Ala) | |
6 | g.32082302C>T | CA363439110 | TNXB | c.3470G>A (p.Gly1157Glu) c.4211G>A (p.Gly1404Glu) c.3731G>A (p.Gly1244Glu) | gnomAD v4 |
6 | g.32082303C>A | CA363439148 | TNXB | c.3469G>T (p.Gly1157Trp) c.4210G>T (p.Gly1404Trp) c.3730G>T (p.Gly1244Trp) | |
6 | g.32082303C= | CA1619416854 | TNXB | c.3469G= (p.Gly1157=) c.4210G= (p.Gly1404=) c.3730G= (p.Gly1244=) | |
6 | g.32082303C>G | CA363439146 | TNXB | c.3469G>C (p.Gly1157Arg) c.4210G>C (p.Gly1404Arg) c.3730G>C (p.Gly1244Arg) | gnomAD v4 |
6 | g.32082303C>T | CA3735171 | TNXB | c.3469G>A (p.Gly1157Arg) c.4210G>A (p.Gly1404Arg) c.3730G>A (p.Gly1244Arg) | dbSNP ExAC gnomAD v2 |