Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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.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 |
12 | g.114355012G>A | CA244262324 | TBX5 | c.*520C>T (n.*520C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114355012G= | CA2064633166 | TBX5 | c.*520C= (n.*520C=) | |
12 | g.114355012G>T | CA2064633167 | TBX5 | c.*520C>A (n.*520C>A) | dbSNP gnomAD v4 |
12 | g.114355013C>A | CA2621124168 | TBX5 | c.*519G>T (n.*519G>T) | gnomAD v4 |
12 | g.114355014A= | CA2064633168 | TBX5 | c.*518T= (n.*518T=) | |
12 | g.114355014A>C | CA2064633169 | TBX5 | c.*518T>G (n.*518T>G) | dbSNP |
12 | g.114355015A= | CA2064633170 | TBX5 | c.*517T= (n.*517T=) | |
12 | g.114355015A>G | CA244262328 | TBX5 | c.*517T>C (n.*517T>C) | dbSNP |
12 | g.114355016G>T | CA2621124169 | TBX5 | c.*516C>A (n.*516C>A) | gnomAD v4 |
12 | g.114355017T>C | CA683909621 | TBX5 | c.*515A>G (n.*515A>G) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.114355017T= | CA2064633171 | TBX5 | c.*515A= (n.*515A=) | |
12 | g.114355017_114355018del | CA2537285690 | TBX5 | c.*514_*515del (n.*514_*515del) | |
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 |