Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.114354969C= | CA2064633147 | TBX5 | c.*563G= (n.*563G=) | |
12 | g.114354969C>T | CA10640320 | TBX5 | c.*563G>A (n.*563G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114354970G>A | CA607711525 | TBX5 | c.*562C>T (n.*562C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114354970G= | CA2064633148 | TBX5 | c.*562C= (n.*562C=) | |
12 | g.114354972G>A | CA2727279761 | TBX5 | c.*560C>T (n.*560C>T) | dbSNP |
12 | g.114354975T>G | CA2621124152 | TBX5 | c.*557A>C (n.*557A>C) | gnomAD v4 |
12 | g.114354977del | CA2797548256 | TBX5 | c.*557del (n.*557del) | |
12 | g.114354976T>C | CA2621124153 | TBX5 | c.*556A>G (n.*556A>G) | gnomAD v4 |
12 | g.114354976T>G | CA2621124154 | TBX5 | c.*556A>C (n.*556A>C) | gnomAD v4 |
12 | g.114354978A>G | CA2621124155 | TBX5 | c.*554T>C (n.*554T>C) | gnomAD v4 |
12 | g.114354981T>G | CA2621124156 | TBX5 | c.*551A>C (n.*551A>C) | gnomAD v4 |
12 | g.114354982T>C | CA2621124157 | TBX5 | c.*550A>G (n.*550A>G) | gnomAD v4 |
12 | g.114354982T>G | CA2621124158 | TBX5 | c.*550A>C (n.*550A>C) | gnomAD v4 |
12 | g.114354983T>G | CA2064633150 | TBX5 | c.*549A>C (n.*549A>C) | dbSNP |
12 | g.114354983T= | CA2064633149 | TBX5 | c.*549A= (n.*549A=) | |
12 | g.114354984C>A | CA2621124159 | TBX5 | c.*548G>T (n.*548G>T) | gnomAD v4 |
12 | g.114354986G>A | CA2621124160 | TBX5 | c.*546C>T (n.*546C>T) | gnomAD v4 |
12 | g.114354987G>C | CA10640321 | TBX5 | c.*545C>G (n.*545C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.114354987G= | CA2064633151 | TBX5 | c.*545C= (n.*545C=) | |
12 | g.114354987G>T | CA2621124161 | TBX5 | c.*545C>A (n.*545C>A) | gnomAD v4 |
12 | g.114354990T>C | CA2797548257 | TBX5 | c.*542A>G (n.*542A>G) | |
12 | g.114354991G>A | CA2064633153 | TBX5 | c.*541C>T (n.*541C>T) | dbSNP |
12 | g.114354991G= | CA2064633152 | TBX5 | c.*541C= (n.*541C=) | |
12 | g.114354991G>T | CA2621124162 | TBX5 | c.*541C>A (n.*541C>A) | gnomAD v4 |
12 | g.114354992G= | CA2064633154 | TBX5 | c.*540C= (n.*540C=) | |
12 | g.114354992G>T | CA2064633155 | TBX5 | c.*540C>A (n.*540C>A) | dbSNP |
12 | g.114354997C= | CA2064633156 | TBX5 | c.*535G= (n.*535G=) | |
12 | g.114354997C>G | CA2064633157 | TBX5 | c.*535G>C (n.*535G>C) | dbSNP |
12 | g.114354997C>T | CA244262299 | TBX5 | c.*535G>A (n.*535G>A) | dbSNP |
12 | g.114354998T>C | CA2064633159 | TBX5 | c.*534A>G (n.*534A>G) | dbSNP |
12 | g.114354998T= | CA2064633158 | TBX5 | c.*534A= (n.*534A=) | |
12 | g.114355001_114355002insTTTGA | CA2064633160 | TBX5 | c.*534_*535insATCAA (n.*534_*535insATCAA) | dbSNP |
12 | g.114354999T>C | CA2064633162 | TBX5 | c.*533A>G (n.*533A>G) | dbSNP gnomAD v4 |
12 | g.114354999T= | CA2064633161 | TBX5 | c.*533A= (n.*533A=) | |
12 | g.114355001A>G | CA2559896039 | TBX5 | c.*531T>C (n.*531T>C) | |
12 | g.114355002A>G | CA2507332171 | TBX5 | c.*530T>C (n.*530T>C) | |
12 | g.114355004G>T | CA2621124163 | TBX5 | c.*528C>A (n.*528C>A) | gnomAD v4 |
12 | g.114355005G>C | CA244262300 | TBX5 | c.*527C>G (n.*527C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114355005G= | CA2064633163 | TBX5 | c.*527C= (n.*527C=) | |
12 | g.114355005G>T | CA2621124164 | TBX5 | c.*527C>A (n.*527C>A) | gnomAD v4 |
12 | g.114355006A>G | CA2621124165 | TBX5 | c.*526T>C (n.*526T>C) | gnomAD v4 |
12 | g.114355008T>A | CA10641020 | TBX5 | c.*524A>T (n.*524A>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114355008T>C | CA2581121731 | TBX5 | c.*524A>G (n.*524A>G) | |
12 | g.114355008T>G | CA2581121730 | TBX5 | c.*524A>C (n.*524A>C) | |
12 | g.114355008T= | CA2064633164 | TBX5 | c.*524A= (n.*524A=) | |
12 | g.114355009C>A | CA2621124166 | TBX5 | c.*523G>T (n.*523G>T) | gnomAD v4 |
12 | g.114355010C>G | CA2797548261 | TBX5 | c.*522G>C (n.*522G>C) | |
12 | g.114355011C>A | CA2621124167 | TBX5 | c.*521G>T (n.*521G>T) | gnomAD v4 |
12 | g.114355011C= | CA2064633165 | TBX5 | c.*521G= (n.*521G=) | |
12 | g.114355011C>T | CA244262305 | TBX5 | c.*521G>A (n.*521G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |