12 | g.114355020A= | CA2064633172 | TBX5 | c.*512T= (n.*512T=)
| |
12 | g.114355020A>C | CA2064633173 | TBX5 | c.*512T>G (n.*512T>G)
| dbSNP |
12 | g.114355020A>G | CA607711534 | TBX5 | c.*512T>C (n.*512T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114355020_114355021insAG | CA2551757883 | TBX5 | c.*511_*512insCT (n.*511_*512insCT)
| |
12 | g.114355022A>C | CA2621124170 | TBX5 | c.*510T>G (n.*510T>G)
| gnomAD v4 |
12 | g.114355024T>G | CA2548682644 | TBX5 | c.*508A>C (n.*508A>C)
| |
12 | g.114355025T>C | CA2064633175 | TBX5 | c.*507A>G (n.*507A>G)
| dbSNP |
12 | g.114355025T= | CA2064633174 | TBX5 | c.*507A= (n.*507A=)
| |
12 | g.114355029_114355031delinsAAT | CA2064633176 | TBX5 | c.*501_*503delinsATT (n.*501_*503delinsATT)
| |
12 | g.114355033_114355034del | CA952036853 | TBX5 | c.*501_*502del (n.*501_*502del)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.114355031T>C | CA2566196499 | TBX5 | c.*501A>G (n.*501A>G)
| gnomAD v4 |
12 | g.114355033T>C | CA2064633178 | TBX5 | c.*499A>G (n.*499A>G)
| dbSNP |
12 | g.114355033T= | CA2064633177 | TBX5 | c.*499A= (n.*499A=)
| |
12 | g.114355035C>A | CA2621124171 | TBX5 | c.*497G>T (n.*497G>T)
| gnomAD v4 |
12 | g.114355035C>T | CA2519238984 | TBX5 | c.*497G>A (n.*497G>A)
| gnomAD v4 |
12 | g.114355035_114355041delinsCTTGCCT | CA2064633179 | TBX5 | c.*491_*497delinsAGGCAAG (n.*491_*497delinsAGGCAAG)
| |
12 | g.114355036T>C | CA244262333 | TBX5 | c.*496A>G (n.*496A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114355036T= | CA2064633181 | TBX5 | c.*496A= (n.*496A=)
| |
12 | g.114355036_114355041del | CA2064633180 | TBX5 | c.*491_*496del (n.*491_*496del)
| dbSNP |
12 | g.114355038G>C | CA2064633182 | TBX5 | c.*494C>G (n.*494C>G)
| dbSNP gnomAD v4 |
12 | g.114355038G= | CA2064633183 | TBX5 | c.*494C= (n.*494C=)
| |
12 | g.114355039C>A | CA2621124172 | TBX5 | c.*493G>T (n.*493G>T)
| gnomAD v4 |
12 | g.114355040C>A | CA2621124174 | TBX5 | c.*492G>T (n.*492G>T)
| gnomAD v4 |
12 | g.114355040C>T | CA2621124173 | TBX5 | c.*492G>A (n.*492G>A)
| gnomAD v4 |
12 | g.114355041T>C | CA2621124175 | TBX5 | c.*491A>G (n.*491A>G)
| gnomAD v4 |
12 | g.114355042C>A | CA2797548262 | TBX5 | c.*490G>T (n.*490G>T)
| |
12 | g.114355042C>G | CA2797548263 | TBX5 | c.*490G>C (n.*490G>C)
| |
12 | g.114355042C>T | CA2621124176 | TBX5 | c.*490G>A (n.*490G>A)
| gnomAD v4 |
12 | g.114355043A>C | CA2797548264 | TBX5 | c.*489T>G (n.*489T>G)
| |
12 | g.114355043A>G | CA2621124177 | TBX5 | c.*489T>C (n.*489T>C)
| gnomAD v4 |
12 | g.114355046C>A | CA2621124179 | TBX5 | c.*486G>T (n.*486G>T)
| gnomAD v4 |
12 | g.114355047dup | CA2621124178 | TBX5 | c.*486dup (n.*486dup)
| gnomAD v4 |
12 | g.114355047C= | CA2064633184 | TBX5 | c.*485G= (n.*485G=)
| |
12 | g.114355047C>T | CA683909626 | TBX5 | c.*485G>A (n.*485G>A)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.114355048T>C | CA2621124180 | TBX5 | c.*484A>G (n.*484A>G)
| gnomAD v4 |
12 | g.114355048_114355049delinsTC | CA2064633185 | TBX5 | c.*483_*484delinsGA (n.*483_*484delinsGA)
| |
12 | g.114355049C>A | CA2621124181 | TBX5 | c.*483G>T (n.*483G>T)
| gnomAD v4 |
12 | g.114355054dup | CA952036855 | TBX5 | c.*483dup (n.*483dup)
| dbSNP |
12 | g.114355053_114355054dup | CA2797548265 | TBX5 | c.*482_*483dup (n.*482_*483dup)
| |
12 | g.114355054del | CA683909631 | TBX5 | c.*483del (n.*483del)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.114355050C>A | CA2797548267 | TBX5 | c.*482G>T (n.*482G>T)
| |
12 | g.114355050C>T | CA2621124182 | TBX5 | c.*482G>A (n.*482G>A)
| gnomAD v4 |
12 | g.114355051C>A | CA2621124183 | TBX5 | c.*481G>T (n.*481G>T)
| gnomAD v4 |
12 | g.114355052C= | CA2064633186 | TBX5 | c.*480G= (n.*480G=)
| |
12 | g.114355052C>T | CA10641021 | TBX5 | c.*480G>A (n.*480G>A)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114355053C>A | CA2064633188 | TBX5 | c.*479G>T (n.*479G>T)
| dbSNP |
12 | g.114355053C= | CA2064633187 | TBX5 | c.*479G= (n.*479G=)
| |
12 | g.114355053C>G | CA683909658 | TBX5 | c.*479G>C (n.*479G>C)
| dbSNP |
12 | g.114355053C>T | CA244262343 | TBX5 | c.*479G>A (n.*479G>A)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.114355054C>A | CA952036861 | TBX5 | c.*478G>T (n.*478G>T)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.114355054C= | CA2064633190 | TBX5 | c.*478G= (n.*478G=)
| |
12 | g.114355054C>G | CA2621124185 | TBX5 | c.*478G>C (n.*478G>C)
| gnomAD v4 |
12 | g.114355054C>T | CA2621124184 | TBX5 | c.*478G>A (n.*478G>A)
| gnomAD v4 |
12 | g.114355054_114355055delinsCA | CA2064633189 | TBX5 | c.*477_*478delinsTG (n.*477_*478delinsTG)
| |
12 | g.114355057del | CA244262345 | TBX5 | c.*477del (n.*477del)
| dbSNP |
12 | g.114355056A>G | CA2621124186 | TBX5 | c.*476T>C (n.*476T>C)
| dbSNP gnomAD v4 |
12 | g.114355060A>G | CA2621124187 | TBX5 | c.*472T>C (n.*472T>C)
| gnomAD v4 |
12 | g.114355062G>A | CA2797548271 | TBX5 | c.*470C>T (n.*470C>T)
| |
12 | g.114355062G>T | CA2621124188 | TBX5 | c.*470C>A (n.*470C>A)
| gnomAD v4 |
12 | g.114355064A>C | CA2797548272 | TBX5 | c.*468T>G (n.*468T>G)
| |
12 | g.114355065C= | CA2064633191 | TBX5 | c.*467G= (n.*467G=)
| |
12 | g.114355065C>T | CA2064633192 | TBX5 | c.*467G>A (n.*467G>A)
| dbSNP |
12 | g.114355067G>T | CA2621124189 | TBX5 | c.*465C>A (n.*465C>A)
| gnomAD v4 |
12 | g.114355069G>T | CA2621124190 | TBX5 | c.*463C>A (n.*463C>A)
| gnomAD v4 |
12 | g.114355071C>A | CA2621124191 | TBX5 | c.*461G>T (n.*461G>T)
| gnomAD v4 |
12 | g.114355071C= | CA2064633193 | TBX5 | c.*461G= (n.*461G=)
| |
12 | g.114355071C>T | CA683909664 | TBX5 | c.*461G>A (n.*461G>A)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.114355072C>A | CA2621124192 | TBX5 | c.*460G>T (n.*460G>T)
| gnomAD v4 |
12 | g.114355073C>A | CA2621124193 | TBX5 | c.*459G>T (n.*459G>T)
| gnomAD v4 |
12 | g.114355075T>A | CA952036862 | TBX5 | c.*457A>T (n.*457A>T)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.114355075T>G | CA2621124194 | TBX5 | c.*457A>C (n.*457A>C)
| gnomAD v4 |
12 | g.114355075T= | CA2064633194 | TBX5 | c.*457A= (n.*457A=)
| |
12 | g.114355076T>G | CA2064633196 | TBX5 | c.*456A>C (n.*456A>C)
| dbSNP |
12 | g.114355076T= | CA2064633195 | TBX5 | c.*456A= (n.*456A=)
| |
12 | g.114355077A>C | CA2621124195 | TBX5 | c.*455T>G (n.*455T>G)
| gnomAD v4 |
12 | g.114355077A>G | CA2621124196 | TBX5 | c.*455T>C (n.*455T>C)
| gnomAD v4 |
12 | g.114355078A= | CA2064633197 | TBX5 | c.*454T= (n.*454T=)
| |
12 | g.114355078A>C | CA683909672 | TBX5 | c.*454T>G (n.*454T>G)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.114355079G>A | CA2064633199 | TBX5 | c.*453C>T (n.*453C>T)
| dbSNP |
12 | g.114355079G= | CA2064633198 | TBX5 | c.*453C= (n.*453C=)
| |
12 | g.114355083A>G | CA2621124197 | TBX5 | c.*449T>C (n.*449T>C)
| gnomAD v4 |
12 | g.114355084T>A | CA607711536 | TBX5 | c.*448A>T (n.*448A>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114355084T= | CA2064633200 | TBX5 | c.*448A= (n.*448A=)
| |
12 | g.114355085T>A | CA607711538 | TBX5 | c.*447A>T (n.*447A>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114355085T>G | CA2621124198 | TBX5 | c.*447A>C (n.*447A>C)
| gnomAD v4 |
12 | g.114355085T= | CA2064633201 | TBX5 | c.*447A= (n.*447A=)
| |
12 | g.114355086G>A | CA607711540 | TBX5 | c.*446C>T (n.*446C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114355086G= | CA2064633202 | TBX5 | c.*446C= (n.*446C=)
| |
12 | g.114355088A>G | CA2569379024 | TBX5 | c.*444T>C (n.*444T>C)
| |
12 | g.114355090G>A | CA607711543 | TBX5 | c.*442C>T (n.*442C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114355090G= | CA2064633203 | TBX5 | c.*442C= (n.*442C=)
| |
12 | g.114355090G>T | CA244262346 | TBX5 | c.*442C>A (n.*442C>A)
| dbSNP |
12 | g.114355090_114355091delinsGA | CA2064633204 | TBX5 | c.*441_*442delinsTC (n.*441_*442delinsTC)
| |
12 | g.114355097dup | CA607711547 | TBX5 | c.*441dup (n.*441dup)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114355097del | CA244262350 | TBX5 | c.*441del (n.*441del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114355092A= | CA2064633205 | TBX5 | c.*440T= (n.*440T=)
| |
12 | g.114355092A>C | CA2064633206 | TBX5 | c.*440T>G (n.*440T>G)
| dbSNP |
12 | g.114355092A>G | CA2621124199 | TBX5 | c.*440T>C (n.*440T>C)
| gnomAD v4 |
12 | g.114355092A>T | CA607711550 | TBX5 | c.*440T>A (n.*440T>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114355093A= | CA2064633207 | TBX5 | c.*439T= (n.*439T=)
| |
12 | g.114355093A>G | CA2621124200 | TBX5 | c.*439T>C (n.*439T>C)
| gnomAD v4 |
12 | g.114355093A>T | CA1139659402 | TBX5 | c.*439T>A (n.*439T>A)
| ClinVar dbSNP |
12 | g.114355095A>T | CA2797548274 | TBX5 | c.*437T>A (n.*437T>A)
| |
12 | g.114355096A>G | CA2621124201 | TBX5 | c.*436T>C (n.*436T>C)
| gnomAD v4 |
12 | g.114355096A>T | CA2797548275 | TBX5 | c.*436T>A (n.*436T>A)
| |
12 | g.114355097_114355098delinsAT | CA2064633208 | TBX5 | c.*434_*435delinsAT (n.*434_*435delinsAT)
| |
12 | g.114355098del | CA952036866 | TBX5 | c.*434del (n.*434del)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.114355098T>G | CA2621124202 | TBX5 | c.*434A>C (n.*434A>C)
| gnomAD v4 |
12 | g.114355099A= | CA2064633209 | TBX5 | c.*433T= (n.*433T=)
| |
12 | g.114355099A>C | CA2621124203 | TBX5 | c.*433T>G (n.*433T>G)
| gnomAD v4 |
12 | g.114355099A>G | CA952036867 | TBX5 | c.*433T>C (n.*433T>C)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.114355102T>G | CA2621124204 | TBX5 | c.*430A>C (n.*430A>C)
| gnomAD v4 |
12 | g.114355105T>C | CA655274083 | TBX5 | c.*427A>G (n.*427A>G)
| COSMIC |
12 | g.114355106C>A | CA244262357 | TBX5 | c.*426G>T (n.*426G>T)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.114355106C= | CA2064633210 | TBX5 | c.*426G= (n.*426G=)
| |
12 | g.114355108T>G | CA952036869 | TBX5 | c.*424A>C (n.*424A>C)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.114355108T= | CA2064633211 | TBX5 | c.*424A= (n.*424A=)
| |
12 | g.114355109T>G | CA2621124205 | TBX5 | c.*423A>C (n.*423A>C)
| gnomAD v4 |
12 | g.114355111A>G | CA2621124206 | TBX5 | c.*421T>C (n.*421T>C)
| gnomAD v4 |
12 | g.114355113T>C | CA2621124207 | TBX5 | c.*419A>G (n.*419A>G)
| gnomAD v4 |
12 | g.114355115T>C | CA244262363 | TBX5 | c.*417A>G (n.*417A>G)
| dbSNP |
12 | g.114355115T= | CA2064633212 | TBX5 | c.*417A= (n.*417A=)
| |
12 | g.114355117T>A | CA2621124208 | TBX5 | c.*415A>T (n.*415A>T)
| gnomAD v4 |
12 | g.114355118A= | CA2064633213 | TBX5 | c.*414T= (n.*414T=)
| |
12 | g.114355118A>G | CA683909702 | TBX5 | c.*414T>C (n.*414T>C)
| dbSNP |
12 | g.114355119del | CA2555019102 | TBX5 | c.*414del (n.*414del)
| |
12 | g.114355119A= | CA2064633214 | TBX5 | c.*413T= (n.*413T=)
| |
12 | g.114355119A>G | CA2064633215 | TBX5 | c.*413T>C (n.*413T>C)
| dbSNP gnomAD v4 |
12 | g.114355120C>A | CA2621124209 | TBX5 | c.*412G>T (n.*412G>T)
| dbSNP gnomAD v4 |
12 | g.114355120C>G | CA2621124210 | TBX5 | c.*412G>C (n.*412G>C)
| gnomAD v4 |