Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.114354915C>A | CA2621124124 | TBX5 | c.*617G>T (n.*617G>T) | gnomAD v4 |
12 | g.114354915C>T | CA2621124125 | TBX5 | c.*617G>A (n.*617G>A) | gnomAD v4 |
12 | g.114354916T>G | CA2621124126 | TBX5 | c.*616A>C (n.*616A>C) | gnomAD v4 |
12 | g.114354919T>G | CA2797548251 | TBX5 | c.*613A>C (n.*613A>C) | |
12 | g.114354920C>A | CA2621124127 | TBX5 | c.*612G>T (n.*612G>T) | gnomAD v4 |
12 | g.114354920C>T | CA2621124128 | TBX5 | c.*612G>A (n.*612G>A) | gnomAD v4 |
12 | g.114354921A= | CA2064633126 | TBX5 | c.*611T= (n.*611T=) | |
12 | g.114354921A>G | CA607711514 | TBX5 | c.*611T>C (n.*611T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114354926C>A | CA2621124129 | TBX5 | c.*606G>T (n.*606G>T) | gnomAD v4 |
12 | g.114354928T>C | CA2621124130 | TBX5 | c.*604A>G (n.*604A>G) | gnomAD v4 |
12 | g.114354929C>A | CA2621124131 | TBX5 | c.*603G>T (n.*603G>T) | gnomAD v4 |
12 | g.114354930A>G | CA2621124132 | TBX5 | c.*602T>C (n.*602T>C) | gnomAD v4 |
12 | g.114354931C>A | CA2064633128 | TBX5 | c.*601G>T (n.*601G>T) | dbSNP gnomAD v4 |
12 | g.114354931C= | CA2064633127 | TBX5 | c.*601G= (n.*601G=) | |
12 | g.114354931C>T | CA10640319 | TBX5 | c.*601G>A (n.*601G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114354932A>G | CA655274080 | TBX5 | c.*600T>C (n.*600T>C) | COSMIC |
12 | g.114354933T>C | CA2621124133 | TBX5 | c.*599A>G (n.*599A>G) | gnomAD v4 |
12 | g.114354934G>T | CA2621124134 | TBX5 | c.*598C>A (n.*598C>A) | gnomAD v4 |
12 | g.114354935G>A | CA2621124135 | TBX5 | c.*597C>T (n.*597C>T) | gnomAD v4 |
12 | g.114354935G>T | CA2621124136 | TBX5 | c.*597C>A (n.*597C>A) | gnomAD v4 |
12 | g.114354936C>A | CA2621124137 | TBX5 | c.*596G>T (n.*596G>T) | gnomAD v4 |
12 | g.114354938G>T | CA2621124138 | TBX5 | c.*594C>A (n.*594C>A) | gnomAD v4 |
12 | g.114354940G>A | CA2064633130 | TBX5 | c.*592C>T (n.*592C>T) | dbSNP gnomAD v4 |
12 | g.114354940G= | CA2064633129 | TBX5 | c.*592C= (n.*592C=) | |
12 | g.114354941G>A | CA2064633132 | TBX5 | c.*591C>T (n.*591C>T) | dbSNP gnomAD v4 |
12 | g.114354941G= | CA2064633131 | TBX5 | c.*591C= (n.*591C=) | |
12 | g.114354941G>T | CA2621124139 | TBX5 | c.*591C>A (n.*591C>A) | gnomAD v4 |
12 | g.114354942T>G | CA2621124140 | TBX5 | c.*590A>C (n.*590A>C) | gnomAD v4 |
12 | g.114354944G>T | CA2621124141 | TBX5 | c.*588C>A (n.*588C>A) | gnomAD v4 |
12 | g.114354945G>A | CA2064633134 | TBX5 | c.*587C>T (n.*587C>T) | dbSNP |
12 | g.114354945G= | CA2064633133 | TBX5 | c.*587C= (n.*587C=) | |
12 | g.114354946T>G | CA2064633136 | TBX5 | c.*586A>C (n.*586A>C) | dbSNP |
12 | g.114354946T= | CA2064633135 | TBX5 | c.*586A= (n.*586A=) | |
12 | g.114354947G>A | CA2621124142 | TBX5 | c.*585C>T (n.*585C>T) | gnomAD v4 |
12 | g.114354948C>A | CA2621124143 | TBX5 | c.*584G>T (n.*584G>T) | gnomAD v4 |
12 | g.114354948C= | CA2064633137 | TBX5 | c.*584G= (n.*584G=) | |
12 | g.114354948C>T | CA244262278 | TBX5 | c.*584G>A (n.*584G>A) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.114354949T>C | CA2621124144 | TBX5 | c.*583A>G (n.*583A>G) | gnomAD v4 |
12 | g.114354951T>C | CA2621124145 | TBX5 | c.*581A>G (n.*581A>G) | gnomAD v4 |
12 | g.114354952T>G | CA952036849 | TBX5 | c.*580A>C (n.*580A>C) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.114354952T= | CA2064633138 | TBX5 | c.*580A= (n.*580A=) | |
12 | g.114354953C>A | CA2621124146 | TBX5 | c.*579G>T (n.*579G>T) | gnomAD v4 |
12 | g.114354954T>C | CA2064633140 | TBX5 | c.*578A>G (n.*578A>G) | dbSNP gnomAD v4 |
12 | g.114354954T= | CA2064633139 | TBX5 | c.*578A= (n.*578A=) | |
12 | g.114354956A>G | CA2569378267 | TBX5 | c.*576T>C (n.*576T>C) | |
12 | g.114354956A>T | CA2621124147 | TBX5 | c.*576T>A (n.*576T>A) | gnomAD v4 |
12 | g.114354958T>C | CA607711517 | TBX5 | c.*574A>G (n.*574A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114354958T= | CA2064633141 | TBX5 | c.*574A= (n.*574A=) | |
12 | g.114354959C>A | CA2621124148 | TBX5 | c.*573G>T (n.*573G>T) | gnomAD v4 |
12 | g.114354959C= | CA2064633142 | TBX5 | c.*573G= (n.*573G=) | |
12 | g.114354959C>G | CA683909592 | TBX5 | c.*573G>C (n.*573G>C) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.114354960A= | CA2064633143 | TBX5 | c.*572T= (n.*572T=) | |
12 | g.114354960A>C | CA2621124149 | TBX5 | c.*572T>G (n.*572T>G) | gnomAD v4 |
12 | g.114354960A>T | CA244262282 | TBX5 | c.*572T>A (n.*572T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114354962G>T | CA655274081 | TBX5 | c.*570C>A (n.*570C>A) | gnomAD v4 COSMIC |
12 | g.114354963G>A | CA655274082 | TBX5 | c.*569C>T (n.*569C>T) | COSMIC |
12 | g.114354964G>A | CA244262285 | TBX5 | c.*568C>T (n.*568C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114354964G>C | CA683909598 | TBX5 | c.*568C>G (n.*568C>G) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.114354964G= | CA2064633144 | TBX5 | c.*568C= (n.*568C=) | |
12 | g.114354964G>T | CA2621124150 | TBX5 | c.*568C>A (n.*568C>A) | gnomAD v4 |
12 | g.114354965G>A | CA2064633146 | TBX5 | c.*567C>T (n.*567C>T) | dbSNP |
12 | g.114354965G= | CA2064633145 | TBX5 | c.*567C= (n.*567C=) | |
12 | g.114354967A>G | CA2621124151 | TBX5 | c.*565T>C (n.*565T>C) | gnomAD v4 |
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 |
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 |