Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
6 | g.32082304T>A | CA449823061 | TNXB | c.3468A>T (p.Pro1156=) c.4209A>T (p.Pro1403=) c.3729A>T (p.Pro1243=) | |
6 | g.32082304T>C | CA449823062 | TNXB | c.3468A>G (p.Pro1156=) c.4209A>G (p.Pro1403=) c.3729A>G (p.Pro1243=) | |
6 | g.32082304T>G | CA449823063 | TNXB | c.3468A>C (p.Pro1156=) c.4209A>C (p.Pro1403=) c.3729A>C (p.Pro1243=) | |
6 | g.32082305G>A | CA363439162 | TNXB | c.3467C>T (p.Pro1156Leu) c.4208C>T (p.Pro1403Leu) c.3728C>T (p.Pro1243Leu) | COSMIC COSMIC |
6 | g.32082305G>C | CA363439165 | TNXB | c.3467C>G (p.Pro1156Arg) c.4208C>G (p.Pro1403Arg) c.3728C>G (p.Pro1243Arg) | |
6 | g.32082305G>T | CA363439183 | TNXB | c.3467C>A (p.Pro1156Gln) c.4208C>A (p.Pro1403Gln) c.3728C>A (p.Pro1243Gln) | gnomAD v4 |
6 | g.32082306G>A | CA363439188 | TNXB | c.3466C>T (p.Pro1156Ser) c.4207C>T (p.Pro1403Ser) c.3727C>T (p.Pro1243Ser) | |
6 | g.32082306G>C | CA363439191 | TNXB | c.3466C>G (p.Pro1156Ala) c.4207C>G (p.Pro1403Ala) c.3727C>G (p.Pro1243Ala) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.32082306G= | CA1619416855 | TNXB | c.3466C= (p.Pro1156=) c.4207C= (p.Pro1403=) c.3727C= (p.Pro1243=) | |
6 | g.32082306G>T | CA363439195 | TNXB | c.3466C>A (p.Pro1156Thr) c.4207C>A (p.Pro1403Thr) c.3727C>A (p.Pro1243Thr) | |
6 | g.32082307A>C | CA363439199 | TNXB | c.3465T>G (p.Ser1155Arg) c.4206T>G (p.Ser1402Arg) c.3726T>G (p.Ser1242Arg) | |
6 | g.32082307A>G | CA449823067 | TNXB | c.3465T>C (p.Ser1155=) c.4206T>C (p.Ser1402=) c.3726T>C (p.Ser1242=) | ClinVar |
6 | g.32082307A>T | CA363439197 | TNXB | c.3465T>A (p.Ser1155Arg) c.4206T>A (p.Ser1402Arg) c.3726T>A (p.Ser1242Arg) | |
6 | g.32082307_32082308delinsAC | CA1619416856 | TNXB | c.3464_3465delinsGT (p.Ser1155=) c.4205_4206delinsGT (p.Ser1402=) c.3725_3726delinsGT (p.Ser1242=) | |
6 | g.32082308del | CA917713406 | TNXB | c.3464del (p.Ser1155IlefsTer13) c.4205del (p.Ser1402IlefsTer13) c.3725del (p.Ser1242IlefsTer13) | dbSNP |
6 | g.32082308C>A | CA363439204 | TNXB | c.3464G>T (p.Ser1155Ile) c.4205G>T (p.Ser1402Ile) c.3725G>T (p.Ser1242Ile) | |
6 | g.32082308C>G | CA363439212 | TNXB | c.3464G>C (p.Ser1155Thr) c.4205G>C (p.Ser1402Thr) c.3725G>C (p.Ser1242Thr) | ClinVar gnomAD v4 |
6 | g.32082308C>T | CA363439215 | TNXB | c.3464G>A (p.Ser1155Asn) c.4205G>A (p.Ser1402Asn) c.3725G>A (p.Ser1242Asn) | |
6 | g.32082309T>A | CA136896948 | TNXB | c.3463A>T (p.Ser1155Cys) c.4204A>T (p.Ser1402Cys) c.3724A>T (p.Ser1242Cys) | dbSNP |
6 | g.32082309T>C | CA363439221 | TNXB | c.3463A>G (p.Ser1155Gly) c.4204A>G (p.Ser1402Gly) c.3724A>G (p.Ser1242Gly) | |
6 | g.32082309T>G | CA363439227 | TNXB | c.3463A>C (p.Ser1155Arg) c.4204A>C (p.Ser1402Arg) c.3724A>C (p.Ser1242Arg) | |
6 | g.32082309T= | CA1619416857 | TNXB | c.3463A= (p.Ser1155=) c.4204A= (p.Ser1402=) c.3724A= (p.Ser1242=) | |
6 | g.32082310T>A | CA449823072 | TNXB | c.3462A>T (p.Pro1154=) c.4203A>T (p.Pro1401=) c.3723A>T (p.Pro1241=) | |
6 | g.32082310T>C | CA449823073 | TNXB | c.3462A>G (p.Pro1154=) c.4203A>G (p.Pro1401=) c.3723A>G (p.Pro1241=) | |
6 | g.32082310T>G | CA449823071 | TNXB | c.3462A>C (p.Pro1154=) c.4203A>C (p.Pro1401=) c.3723A>C (p.Pro1241=) | |
6 | g.32082311G>A | CA363439255 | TNXB | c.3461C>T (p.Pro1154Leu) c.4202C>T (p.Pro1401Leu) c.3722C>T (p.Pro1241Leu) | gnomAD v4 |
6 | g.32082311G>C | CA363439247 | TNXB | c.3461C>G (p.Pro1154Arg) c.4202C>G (p.Pro1401Arg) c.3722C>G (p.Pro1241Arg) | |
6 | g.32082311G>T | CA363439251 | TNXB | c.3461C>A (p.Pro1154Gln) c.4202C>A (p.Pro1401Gln) c.3722C>A (p.Pro1241Gln) | |
6 | g.32082312G>A | CA363439259 | TNXB | c.3460C>T (p.Pro1154Ser) c.4201C>T (p.Pro1401Ser) c.3721C>T (p.Pro1241Ser) | dbSNP gnomAD v2 |
6 | g.32082312G>C | CA363439263 | TNXB | c.3460C>G (p.Pro1154Ala) c.4201C>G (p.Pro1401Ala) c.3721C>G (p.Pro1241Ala) | |
6 | g.32082312G= | CA1619416858 | TNXB | c.3460C= (p.Pro1154=) c.4201C= (p.Pro1401=) c.3721C= (p.Pro1241=) | |
6 | g.32082312G>T | CA363439266 | TNXB | c.3460C>A (p.Pro1154Thr) c.4201C>A (p.Pro1401Thr) c.3721C>A (p.Pro1241Thr) | |
6 | g.32082313G>A | CA449823077 | TNXB | c.3459C>T (p.Asp1153=) c.4200C>T (p.Asp1400=) c.3720C>T (p.Asp1240=) | |
6 | g.32082313G>C | CA363439271 | TNXB | c.3459C>G (p.Asp1153Glu) c.4200C>G (p.Asp1400Glu) c.3720C>G (p.Asp1240Glu) | |
6 | g.32082313G>T | CA363439278 | TNXB | c.3459C>A (p.Asp1153Glu) c.4200C>A (p.Asp1400Glu) c.3720C>A (p.Asp1240Glu) | |
6 | g.32082314T>A | CA363439287 | TNXB | c.3458A>T (p.Asp1153Val) c.4199A>T (p.Asp1400Val) c.3719A>T (p.Asp1240Val) | |
6 | g.32082314T>C | CA363439292 | TNXB | c.3458A>G (p.Asp1153Gly) c.4199A>G (p.Asp1400Gly) c.3719A>G (p.Asp1240Gly) | |
6 | g.32082314T>G | CA363439298 | TNXB | c.3458A>C (p.Asp1153Ala) c.4199A>C (p.Asp1400Ala) c.3719A>C (p.Asp1240Ala) | |
6 | g.32082315C>A | CA363439301 | TNXB | c.3457G>T (p.Asp1153Tyr) c.4198G>T (p.Asp1400Tyr) c.3718G>T (p.Asp1240Tyr) | gnomAD v4 |
6 | g.32082315C>G | CA363439303 | TNXB | c.3457G>C (p.Asp1153His) c.4198G>C (p.Asp1400His) c.3718G>C (p.Asp1240His) | |
6 | g.32082315C>T | CA363439307 | TNXB | c.3457G>A (p.Asp1153Asn) c.4198G>A (p.Asp1400Asn) c.3718G>A (p.Asp1240Asn) | |
6 | g.32082316A>C | CA363439311 | TNXB | c.3456T>G (p.Ser1152Arg) c.4197T>G (p.Ser1399Arg) c.3717T>G (p.Ser1239Arg) | |
6 | g.32082316A>G | CA449823081 | TNXB | c.3456T>C (p.Ser1152=) c.4197T>C (p.Ser1399=) c.3717T>C (p.Ser1239=) | gnomAD v4 |
6 | g.32082316A>T | CA363439322 | TNXB | c.3456T>A (p.Ser1152Arg) c.4197T>A (p.Ser1399Arg) c.3717T>A (p.Ser1239Arg) | gnomAD v4 |
6 | g.32082317C>A | CA363439330 | TNXB | c.3455G>T (p.Ser1152Ile) c.4196G>T (p.Ser1399Ile) c.3716G>T (p.Ser1239Ile) | |
6 | g.32082317C>G | CA363439343 | TNXB | c.3455G>C (p.Ser1152Thr) c.4196G>C (p.Ser1399Thr) c.3716G>C (p.Ser1239Thr) | |
6 | g.32082317C>T | CA363439333 | TNXB | c.3455G>A (p.Ser1152Asn) c.4196G>A (p.Ser1399Asn) c.3716G>A (p.Ser1239Asn) | ClinVar gnomAD v4 |
6 | g.32082318T>A | CA363439346 | TNXB | c.3454A>T (p.Ser1152Cys) c.4195A>T (p.Ser1399Cys) c.3715A>T (p.Ser1239Cys) | gnomAD v4 |
6 | g.32082318T>C | CA363439352 | TNXB | c.3454A>G (p.Ser1152Gly) c.4195A>G (p.Ser1399Gly) c.3715A>G (p.Ser1239Gly) | |
6 | g.32082318T>G | CA363439356 | TNXB | c.3454A>C (p.Ser1152Arg) c.4195A>C (p.Ser1399Arg) c.3715A>C (p.Ser1239Arg) | |
6 | g.32082319C>A | CA363439364 | TNXB | c.3453G>T (p.Gln1151His) c.4194G>T (p.Gln1398His) c.3714G>T (p.Gln1238His) | gnomAD v4 |
6 | g.32082319C= | CA1619416859 | TNXB | c.3453G= (p.Gln1151=) c.4194G= (p.Gln1398=) c.3714G= (p.Gln1238=) | |
6 | g.32082319C>G | CA363439369 | TNXB | c.3453G>C (p.Gln1151His) c.4194G>C (p.Gln1398His) c.3714G>C (p.Gln1238His) | |
6 | g.32082319C>T | CA449823082 | TNXB | c.3453G>A (p.Gln1151=) c.4194G>A (p.Gln1398=) c.3714G>A (p.Gln1238=) | dbSNP gnomAD v4 |
6 | g.32082320T>A | CA363439379 | TNXB | c.3452A>T (p.Gln1151Leu) c.4193A>T (p.Gln1398Leu) c.3713A>T (p.Gln1238Leu) | |
6 | g.32082320T>C | CA363439376 | TNXB | c.3452A>G (p.Gln1151Arg) c.4193A>G (p.Gln1398Arg) c.3713A>G (p.Gln1238Arg) | |
6 | g.32082320T>G | CA363439374 | TNXB | c.3452A>C (p.Gln1151Pro) c.4193A>C (p.Gln1398Pro) c.3713A>C (p.Gln1238Pro) | |
6 | g.32082321G>A | CA363439389 | TNXB | c.3451C>T (p.Gln1151Ter) c.4192C>T (p.Gln1398Ter) c.3712C>T (p.Gln1238Ter) | gnomAD v4 |
6 | g.32082321G>C | CA363439392 | TNXB | c.3451C>G (p.Gln1151Glu) c.4192C>G (p.Gln1398Glu) c.3712C>G (p.Gln1238Glu) | |
6 | g.32082321G>T | CA363439397 | TNXB | c.3451C>A (p.Gln1151Lys) c.4192C>A (p.Gln1398Lys) c.3712C>A (p.Gln1238Lys) | |
6 | g.32082322A>C | CA449823083 | TNXB | c.3450T>G (p.Pro1150=) c.4191T>G (p.Pro1397=) c.3711T>G (p.Pro1237=) | |
6 | g.32082322A>G | CA449823084 | TNXB | c.3450T>C (p.Pro1150=) c.4191T>C (p.Pro1397=) c.3711T>C (p.Pro1237=) | |
6 | g.32082322A>T | CA449823085 | TNXB | c.3450T>A (p.Pro1150=) c.4191T>A (p.Pro1397=) c.3711T>A (p.Pro1237=) | |
6 | g.32082323G>A | CA363439406 | TNXB | c.3449C>T (p.Pro1150Leu) c.4190C>T (p.Pro1397Leu) c.3710C>T (p.Pro1237Leu) | |
6 | g.32082323G>C | CA363439407 | TNXB | c.3449C>G (p.Pro1150Arg) c.4190C>G (p.Pro1397Arg) c.3710C>G (p.Pro1237Arg) | |
6 | g.32082323G>T | CA363439409 | TNXB | c.3449C>A (p.Pro1150His) c.4190C>A (p.Pro1397His) c.3710C>A (p.Pro1237His) | |
6 | g.32082324G>A | CA3735172 | TNXB | c.3448C>T (p.Pro1150Ser) c.4189C>T (p.Pro1397Ser) c.3709C>T (p.Pro1237Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.32082324G>C | CA363439412 | TNXB | c.3448C>G (p.Pro1150Ala) c.4189C>G (p.Pro1397Ala) c.3709C>G (p.Pro1237Ala) | |
6 | g.32082324G= | CA1619416860 | TNXB | c.3448C= (p.Pro1150=) c.4189C= (p.Pro1397=) c.3709C= (p.Pro1237=) | |
6 | g.32082324G>T | CA363439410 | TNXB | c.3448C>A (p.Pro1150Thr) c.4189C>A (p.Pro1397Thr) c.3709C>A (p.Pro1237Thr) | gnomAD v4 |
6 | g.32082325C>A | CA363439416 | TNXB | c.3447G>T (p.Leu1149Phe) c.4188G>T (p.Leu1396Phe) c.3708G>T (p.Leu1236Phe) | gnomAD v4 |
6 | g.32082325C>G | CA363439417 | TNXB | c.3447G>C (p.Leu1149Phe) c.4188G>C (p.Leu1396Phe) c.3708G>C (p.Leu1236Phe) | |
6 | g.32082325C>T | CA449823086 | TNXB | c.3447G>A (p.Leu1149=) c.4188G>A (p.Leu1396=) c.3708G>A (p.Leu1236=) | |
6 | g.32082326A>C | CA363439423 | TNXB | c.3446T>G (p.Leu1149Trp) c.4187T>G (p.Leu1396Trp) c.3707T>G (p.Leu1236Trp) | |
6 | g.32082326A>G | CA363439427 | TNXB | c.3446T>C (p.Leu1149Ser) c.4187T>C (p.Leu1396Ser) c.3707T>C (p.Leu1236Ser) | gnomAD v4 |
6 | g.32082326A>T | CA363439433 | TNXB | c.3446T>A (p.Leu1149Ter) c.4187T>A (p.Leu1396Ter) c.3707T>A (p.Leu1236Ter) | |
6 | g.32082327C>A | CA363439436 | TNXB | c.3446-1G>T (n.3446-1G>T) c.4187-1G>T (n.4187-1G>T) c.3707-1G>T (n.3707-1G>T) | gnomAD v4 |
6 | g.32082327C>G | CA363439467 | TNXB | c.3446-1G>C (n.3446-1G>C) c.4187-1G>C (n.4187-1G>C) c.3707-1G>C (n.3707-1G>C) | |
6 | g.32082327C>T | CA363439472 | TNXB | c.3446-1G>A (n.3446-1G>A) c.4187-1G>A (n.4187-1G>A) c.3707-1G>A (n.3707-1G>A) | |
6 | g.32082328T>A | CA363439479 | TNXB | c.3446-2A>T (n.3446-2A>T) c.4187-2A>T (n.4187-2A>T) c.3707-2A>T (n.3707-2A>T) | |
6 | g.32082328T>C | CA363439483 | TNXB | c.3446-2A>G (n.3446-2A>G) c.4187-2A>G (n.4187-2A>G) c.3707-2A>G (n.3707-2A>G) | |
6 | g.32082328T>G | CA363439491 | TNXB | c.3446-2A>C (n.3446-2A>C) c.4187-2A>C (n.4187-2A>C) c.3707-2A>C (n.3707-2A>C) | |
6 | g.32082330G>T | CA2678098049 | TNXB | c.3446-4C>A (n.3446-4C>A) c.4187-4C>A (n.4187-4C>A) c.3707-4C>A (n.3707-4C>A) | gnomAD v4 |
6 | g.32082333A= | CA1619416861 | TNXB | c.3446-7T= (n.3446-7T=) c.4187-7T= (n.4187-7T=) c.3707-7T= (n.3707-7T=) | |
6 | g.32082333A>G | CA3735173 | TNXB | c.3446-7T>C (n.3446-7T>C) c.4187-7T>C (n.4187-7T>C) c.3707-7T>C (n.3707-7T>C) | dbSNP ExAC gnomAD v2 |
6 | g.32082336G>A | CA3735174 | TNXB | c.3446-10C>T (n.3446-10C>T) c.4187-10C>T (n.4187-10C>T) c.3707-10C>T (n.3707-10C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.32082336G>C | CA2678098050 | TNXB | c.3446-10C>G (n.3446-10C>G) c.4187-10C>G (n.4187-10C>G) c.3707-10C>G (n.3707-10C>G) | gnomAD v4 |
6 | g.32082336G= | CA1619416862 | TNXB | c.3446-10C= (n.3446-10C=) c.4187-10C= (n.4187-10C=) c.3707-10C= (n.3707-10C=) | |
6 | g.32082339G>A | CA566695306 | TNXB | c.3446-13C>T (n.3446-13C>T) c.4187-13C>T (n.4187-13C>T) c.3707-13C>T (n.3707-13C>T) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.32082339G>C | CA3735175 | TNXB | c.3446-13C>G (n.3446-13C>G) c.4187-13C>G (n.4187-13C>G) c.3707-13C>G (n.3707-13C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.32082339G= | CA1619416863 | TNXB | c.3446-13C= (n.3446-13C=) c.4187-13C= (n.4187-13C=) c.3707-13C= (n.3707-13C=) | |
6 | g.32082340G>A | CA3735176 | TNXB | c.3446-14C>T (n.3446-14C>T) c.4187-14C>T (n.4187-14C>T) c.3707-14C>T (n.3707-14C>T) | dbSNP ExAC gnomAD v2 |
6 | g.32082340G= | CA1619416864 | TNXB | c.3446-14C= (n.3446-14C=) c.4187-14C= (n.4187-14C=) c.3707-14C= (n.3707-14C=) | |
6 | g.32082340G>T | CA363439504 | TNXB | c.3446-14C>A (n.3446-14C>A) c.4187-14C>A (n.4187-14C>A) c.3707-14C>A (n.3707-14C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.32082347_32082348del | CA2678098053 | TNXB | c.3446-17_3446-16del (n.3446-17_3446-16del) c.4187-17_4187-16del (n.4187-17_4187-16del) c.3707-17_3707-16del (n.3707-17_3707-16del) | gnomAD v4 |
6 | g.32082343G>A | CA823930332 | TNXB | c.3446-17C>T (n.3446-17C>T) c.4187-17C>T (n.4187-17C>T) c.3707-17C>T (n.3707-17C>T) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.32082343G= | CA1619416865 | TNXB | c.3446-17C= (n.3446-17C=) c.4187-17C= (n.4187-17C=) c.3707-17C= (n.3707-17C=) | |
6 | g.32082343G>T | CA2499981616 | TNXB | c.3446-17C>A (n.3446-17C>A) c.4187-17C>A (n.4187-17C>A) c.3707-17C>A (n.3707-17C>A) | |
6 | g.32082344A>G | CA2678098055 | TNXB | c.3446-18T>C (n.3446-18T>C) c.4187-18T>C (n.4187-18T>C) c.3707-18T>C (n.3707-18T>C) | gnomAD v4 |
6 | g.32082347G>A | CA3735177 | TNXB | c.3446-21C>T (n.3446-21C>T) c.4187-21C>T (n.4187-21C>T) c.3707-21C>T (n.3707-21C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.32082347G>C | CA566695307 | TNXB | c.3446-21C>G (n.3446-21C>G) c.4187-21C>G (n.4187-21C>G) c.3707-21C>G (n.3707-21C>G) | dbSNP gnomAD v2 |
6 | g.32082347G= | CA1619416866 | TNXB | c.3446-21C= (n.3446-21C=) c.4187-21C= (n.4187-21C=) c.3707-21C= (n.3707-21C=) | |
6 | g.32082349A= | CA1619416867 | TNXB | c.3446-23T= (n.3446-23T=) c.4187-23T= (n.4187-23T=) c.3707-23T= (n.3707-23T=) | |
6 | g.32082349A>G | CA566695308 | TNXB | c.3446-23T>C (n.3446-23T>C) c.4187-23T>C (n.4187-23T>C) c.3707-23T>C (n.3707-23T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.32082350G>T | CA2678098056 | TNXB | c.3446-24C>A (n.3446-24C>A) c.4187-24C>A (n.4187-24C>A) c.3707-24C>A (n.3707-24C>A) | gnomAD v4 |
6 | g.32082351G>A | CA566695309 | TNXB | c.3446-25C>T (n.3446-25C>T) c.4187-25C>T (n.4187-25C>T) c.3707-25C>T (n.3707-25C>T) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.32082351G= | CA1619416868 | TNXB | c.3446-25C= (n.3446-25C=) c.4187-25C= (n.4187-25C=) c.3707-25C= (n.3707-25C=) | |
6 | g.32082352G>A | CA566695310 | TNXB | c.3446-26C>T (n.3446-26C>T) c.4187-26C>T (n.4187-26C>T) c.3707-26C>T (n.3707-26C>T) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.32082352G>C | CA3735178 | TNXB | c.3446-26C>G (n.3446-26C>G) c.4187-26C>G (n.4187-26C>G) c.3707-26C>G (n.3707-26C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.32082352G= | CA1619416869 | TNXB | c.3446-26C= (n.3446-26C=) c.4187-26C= (n.4187-26C=) c.3707-26C= (n.3707-26C=) | |
6 | g.32082352G>T | CA2678098057 | TNXB | c.3446-26C>A (n.3446-26C>A) c.4187-26C>A (n.4187-26C>A) c.3707-26C>A (n.3707-26C>A) | gnomAD v4 |
6 | g.32082353A= | CA1619416870 | TNXB | c.3446-27T= (n.3446-27T=) c.4187-27T= (n.4187-27T=) c.3707-27T= (n.3707-27T=) | |
6 | g.32082353A>T | CA566695311 | TNXB | c.3446-27T>A (n.3446-27T>A) c.4187-27T>A (n.4187-27T>A) c.3707-27T>A (n.3707-27T>A) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.32082355A= | CA1619416871 | TNXB | c.3446-29T= (n.3446-29T=) c.4187-29T= (n.4187-29T=) c.3707-29T= (n.3707-29T=) | |
6 | g.32082355A>G | CA566695312 | TNXB | c.3446-29T>C (n.3446-29T>C) c.4187-29T>C (n.4187-29T>C) c.3707-29T>C (n.3707-29T>C) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.32082356G>A | CA2678098061 | TNXB | c.3446-30C>T (n.3446-30C>T) c.4187-30C>T (n.4187-30C>T) c.3707-30C>T (n.3707-30C>T) | gnomAD v4 |
6 | g.32082356G>T | CA2518991977 | TNXB | c.3446-30C>A (n.3446-30C>A) c.4187-30C>A (n.4187-30C>A) c.3707-30C>A (n.3707-30C>A) | |
6 | g.32082356_32082359delinsGACT | CA1619416872 | TNXB | c.3446-33_3446-30delinsAGTC (n.3446-33_3446-30delinsAGTC) c.4187-33_4187-30delinsAGTC (n.4187-33_4187-30delinsAGTC) c.3707-33_3707-30delinsAGTC (n.3707-33_3707-30delinsAGTC) | |
6 | g.32082357A>G | CA2678098062 | TNXB | c.3446-31T>C (n.3446-31T>C) c.4187-31T>C (n.4187-31T>C) c.3707-31T>C (n.3707-31T>C) | gnomAD v4 |
6 | g.32082357_32082359del | CA566695313 | TNXB | c.3446-33_3446-31del (n.3446-33_3446-31del) c.4187-33_4187-31del (n.4187-33_4187-31del) c.3707-33_3707-31del (n.3707-33_3707-31del) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.32082358C>G | CA2678098063 | TNXB | c.3446-32G>C (n.3446-32G>C) c.4187-32G>C (n.4187-32G>C) c.3707-32G>C (n.3707-32G>C) | gnomAD v4 |
6 | g.32082359T>C | CA2678098065 | TNXB | c.3446-33A>G (n.3446-33A>G) c.4187-33A>G (n.4187-33A>G) c.3707-33A>G (n.3707-33A>G) | gnomAD v4 |
6 | g.32082360del | CA2678098064 | TNXB | c.3446-33del (n.3446-33del) c.4187-33del (n.4187-33del) c.3707-33del (n.3707-33del) | gnomAD v4 |
6 | g.32082362G= | CA1619416873 | TNXB | c.3446-36C= (n.3446-36C=) c.4187-36C= (n.4187-36C=) c.3707-36C= (n.3707-36C=) | |
6 | g.32082362G>T | CA136896964 | TNXB | c.3446-36C>A (n.3446-36C>A) c.4187-36C>A (n.4187-36C>A) c.3707-36C>A (n.3707-36C>A) | dbSNP gnomAD v4 |
6 | g.32082364T>A | CA2578575210 | TNXB | c.3446-38A>T (n.3446-38A>T) c.4187-38A>T (n.4187-38A>T) c.3707-38A>T (n.3707-38A>T) | |
6 | g.32082366C>T | CA2678098067 | TNXB | c.3446-40G>A (n.3446-40G>A) c.4187-40G>A (n.4187-40G>A) c.3707-40G>A (n.3707-40G>A) | gnomAD v4 |
6 | g.32082368A= | CA1619416874 | TNXB | c.3446-42T= (n.3446-42T=) c.4187-42T= (n.4187-42T=) c.3707-42T= (n.3707-42T=) | |
6 | g.32082368A>G | CA566695314 | TNXB | c.3446-42T>C (n.3446-42T>C) c.4187-42T>C (n.4187-42T>C) c.3707-42T>C (n.3707-42T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.32082368A>T | CA3735179 | TNXB | c.3446-42T>A (n.3446-42T>A) c.4187-42T>A (n.4187-42T>A) c.3707-42T>A (n.3707-42T>A) | dbSNP ExAC gnomAD v2 |
6 | g.32082372G>T | CA2678098068 | TNXB | c.3446-46C>A (n.3446-46C>A) c.4187-46C>A (n.4187-46C>A) c.3707-46C>A (n.3707-46C>A) | gnomAD v4 |
6 | g.32082374A= | CA1619416875 | TNXB | c.3446-48T= (n.3446-48T=) c.4187-48T= (n.4187-48T=) c.3707-48T= (n.3707-48T=) | |
6 | g.32082374A>C | CA566695315 | TNXB | c.3446-48T>G (n.3446-48T>G) c.4187-48T>G (n.4187-48T>G) c.3707-48T>G (n.3707-48T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.32082376G>A | CA2678098069 | TNXB | c.3446-50C>T (n.3446-50C>T) c.4187-50C>T (n.4187-50C>T) c.3707-50C>T (n.3707-50C>T) | gnomAD v4 |
6 | g.32082377G>A | CA2678098070 | TNXB | c.3446-51C>T (n.3446-51C>T) c.4187-51C>T (n.4187-51C>T) c.3707-51C>T (n.3707-51C>T) | gnomAD v4 |
6 | g.32082378G>C | CA823930344 | TNXB | c.3446-52C>G (n.3446-52C>G) c.4187-52C>G (n.4187-52C>G) c.3707-52C>G (n.3707-52C>G) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.32082378G= | CA1619416876 | TNXB | c.3446-52C= (n.3446-52C=) c.4187-52C= (n.4187-52C=) c.3707-52C= (n.3707-52C=) | |
6 | g.32082379G>A | CA136896969 | TNXB | c.3446-53C>T (n.3446-53C>T) c.4187-53C>T (n.4187-53C>T) c.3707-53C>T (n.3707-53C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.32082379G>C | CA2678098071 | TNXB | c.3446-53C>G (n.3446-53C>G) c.4187-53C>G (n.4187-53C>G) c.3707-53C>G (n.3707-53C>G) | gnomAD v4 |
6 | g.32082379G= | CA1619416877 | TNXB | c.3446-53C= (n.3446-53C=) c.4187-53C= (n.4187-53C=) c.3707-53C= (n.3707-53C=) | |
6 | g.32082380A>G | CA2678098072 | TNXB | c.3446-54T>C (n.3446-54T>C) c.4187-54T>C (n.4187-54T>C) c.3707-54T>C (n.3707-54T>C) | gnomAD v4 |
6 | g.32082381A>C | CA2678098073 | TNXB | c.3446-55T>G (n.3446-55T>G) c.4187-55T>G (n.4187-55T>G) c.3707-55T>G (n.3707-55T>G) | gnomAD v4 |
6 | g.32082382G>A | CA823930345 | TNXB | c.3446-56C>T (n.3446-56C>T) c.4187-56C>T (n.4187-56C>T) c.3707-56C>T (n.3707-56C>T) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.32082382G= | CA1619416878 | TNXB | c.3446-56C= (n.3446-56C=) c.4187-56C= (n.4187-56C=) c.3707-56C= (n.3707-56C=) | |
6 | g.32082382G>T | CA2678098075 | TNXB | c.3446-56C>A (n.3446-56C>A) c.4187-56C>A (n.4187-56C>A) c.3707-56C>A (n.3707-56C>A) | gnomAD v4 |
6 | g.32082383C>G | CA2711332990 | TNXB | c.3446-57G>C (n.3446-57G>C) c.4187-57G>C (n.4187-57G>C) c.3707-57G>C (n.3707-57G>C) | dbSNP |
6 | g.32082383C>T | CA2678098077 | TNXB | c.3446-57G>A (n.3446-57G>A) c.4187-57G>A (n.4187-57G>A) c.3707-57G>A (n.3707-57G>A) | gnomAD v4 |
6 | g.32082384C>A | CA2678098078 | TNXB | c.3446-58G>T (n.3446-58G>T) c.4187-58G>T (n.4187-58G>T) c.3707-58G>T (n.3707-58G>T) | gnomAD v4 |
6 | g.32082387del | CA2678098079 | TNXB | c.3446-59del (n.3446-59del) c.4187-59del (n.4187-59del) c.3707-59del (n.3707-59del) | gnomAD v4 |
6 | g.32082387A= | CA1619416879 | TNXB | c.3446-61T= (n.3446-61T=) c.4187-61T= (n.4187-61T=) c.3707-61T= (n.3707-61T=) | |
6 | g.32082387A>C | CA1619416880 | TNXB | c.3446-61T>G (n.3446-61T>G) c.4187-61T>G (n.4187-61T>G) c.3707-61T>G (n.3707-61T>G) | dbSNP gnomAD v4 |
6 | g.32082388T>A | CA2678098080 | TNXB | c.3446-62A>T (n.3446-62A>T) c.4187-62A>T (n.4187-62A>T) c.3707-62A>T (n.3707-62A>T) | gnomAD v4 |
6 | g.32082388T>C | CA2678098081 | TNXB | c.3446-62A>G (n.3446-62A>G) c.4187-62A>G (n.4187-62A>G) c.3707-62A>G (n.3707-62A>G) | gnomAD v4 |
6 | g.32082389C>A | CA650620124 | TNXB | c.3446-63G>T (n.3446-63G>T) c.4187-63G>T (n.4187-63G>T) c.3707-63G>T (n.3707-63G>T) | COSMIC |
6 | g.32082389C= | CA1619416881 | TNXB | c.3446-63G= (n.3446-63G=) c.4187-63G= (n.4187-63G=) c.3707-63G= (n.3707-63G=) | |
6 | g.32082389C>T | CA136896974 | TNXB | c.3446-63G>A (n.3446-63G>A) c.4187-63G>A (n.4187-63G>A) c.3707-63G>A (n.3707-63G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.32082391del | CA2678098082 | TNXB | c.3446-63del (n.3446-63del) c.4187-63del (n.4187-63del) c.3707-63del (n.3707-63del) | gnomAD v4 |
6 | g.32082390C>T | CA2678098083 | TNXB | c.3446-64G>A (n.3446-64G>A) c.4187-64G>A (n.4187-64G>A) c.3707-64G>A (n.3707-64G>A) | gnomAD v4 |
6 | g.32082391C>A | CA2678098085 | TNXB | c.3446-65G>T (n.3446-65G>T) c.4187-65G>T (n.4187-65G>T) c.3707-65G>T (n.3707-65G>T) | gnomAD v4 |
6 | g.32082393_32082394del | CA2678098084 | TNXB | c.3446-66_3446-65del (n.3446-66_3446-65del) c.4187-66_4187-65del (n.4187-66_4187-65del) c.3707-66_3707-65del (n.3707-66_3707-65del) | gnomAD v4 |
6 | g.32082393C>A | CA566366789 | TNXB | c.3446-67G>T (n.3446-67G>T) c.4187-67G>T (n.4187-67G>T) c.3707-67G>T (n.3707-67G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.32082393C= | CA1619416882 | TNXB | c.3446-67G= (n.3446-67G=) c.4187-67G= (n.4187-67G=) c.3707-67G= (n.3707-67G=) | |
6 | g.32082394A= | CA1619416883 | TNXB | c.3446-68T= (n.3446-68T=) c.4187-68T= (n.4187-68T=) c.3707-68T= (n.3707-68T=) | |
6 | g.32082394A>G | CA823930349 | TNXB | c.3446-68T>C (n.3446-68T>C) c.4187-68T>C (n.4187-68T>C) c.3707-68T>C (n.3707-68T>C) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.32082395T>A | CA2578575211 | TNXB | c.3446-69A>T (n.3446-69A>T) c.4187-69A>T (n.4187-69A>T) c.3707-69A>T (n.3707-69A>T) | gnomAD v4 |
6 | g.32082395T>C | CA136896977 | TNXB | c.3446-69A>G (n.3446-69A>G) c.4187-69A>G (n.4187-69A>G) c.3707-69A>G (n.3707-69A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.32082395T>G | CA823930351 | TNXB | c.3446-69A>C (n.3446-69A>C) c.4187-69A>C (n.4187-69A>C) c.3707-69A>C (n.3707-69A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.32082395T= | CA1619416884 | TNXB | c.3446-69A= (n.3446-69A=) c.4187-69A= (n.4187-69A=) c.3707-69A= (n.3707-69A=) | |
6 | g.32082395_32082396insCCC | CA566366790 | TNXB | c.3446-70_3446-69insGGG (n.3446-70_3446-69insGGG) c.4187-70_4187-69insGGG (n.4187-70_4187-69insGGG) c.3707-70_3707-69insGGG (n.3707-70_3707-69insGGG) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.32082396A= | CA1619416886 | TNXB | c.3446-70T= (n.3446-70T=) c.4187-70T= (n.4187-70T=) c.3707-70T= (n.3707-70T=) | |
6 | g.32082396A>C | CA823930353 | TNXB | c.3446-70T>G (n.3446-70T>G) c.4187-70T>G (n.4187-70T>G) c.3707-70T>G (n.3707-70T>G) | dbSNP |
6 | g.32082396A>G | CA2678098087 | TNXB | c.3446-70T>C (n.3446-70T>C) c.4187-70T>C (n.4187-70T>C) c.3707-70T>C (n.3707-70T>C) | gnomAD v4 |
6 | g.32082396_32082398delinsAGG | CA1619416885 | TNXB | c.3446-72_3446-70delinsCCT (n.3446-72_3446-70delinsCCT) c.4187-72_4187-70delinsCCT (n.4187-72_4187-70delinsCCT) c.3707-72_3707-70delinsCCT (n.3707-72_3707-70delinsCCT) | |
6 | g.32082397G>A | CA2578575212 | TNXB | c.3446-71C>T (n.3446-71C>T) c.4187-71C>T (n.4187-71C>T) c.3707-71C>T (n.3707-71C>T) | gnomAD v4 |
6 | g.32082397G>C | CA823930357 | TNXB | c.3446-71C>G (n.3446-71C>G) c.4187-71C>G (n.4187-71C>G) c.3707-71C>G (n.3707-71C>G) | dbSNP |
6 | g.32082397G= | CA1619416887 | TNXB | c.3446-71C= (n.3446-71C=) c.4187-71C= (n.4187-71C=) c.3707-71C= (n.3707-71C=) | |
6 | g.32082397G>T | CA2678098094 | TNXB | c.3446-71C>A (n.3446-71C>A) c.4187-71C>A (n.4187-71C>A) c.3707-71C>A (n.3707-71C>A) | gnomAD v4 |
6 | g.32082397_32082398del | CA566366791 | TNXB | c.3446-72_3446-71del (n.3446-72_3446-71del) c.4187-72_4187-71del (n.4187-72_4187-71del) c.3707-72_3707-71del (n.3707-72_3707-71del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.32082398G>C | CA823930359 | TNXB | c.3446-72C>G (n.3446-72C>G) c.4187-72C>G (n.4187-72C>G) c.3707-72C>G (n.3707-72C>G) | dbSNP gnomAD v4 |
6 | g.32082398G= | CA1619416888 | TNXB | c.3446-72C= (n.3446-72C=) c.4187-72C= (n.4187-72C=) c.3707-72C= (n.3707-72C=) | |
6 | g.32082398G>T | CA2678098101 | TNXB | c.3446-72C>A (n.3446-72C>A) c.4187-72C>A (n.4187-72C>A) c.3707-72C>A (n.3707-72C>A) | gnomAD v4 |