Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.114354351C>A | CA2621123922 | TBX5 | c.*1181G>T (n.*1181G>T) | gnomAD v4 |
12 | g.114354352T>C | CA244261957 | TBX5 | c.*1180A>G (n.*1180A>G) | dbSNP |
12 | g.114354352T= | CA2064632877 | TBX5 | c.*1180A= (n.*1180A=) | |
12 | g.114354353G>A | CA2621123923 | TBX5 | c.*1179C>T (n.*1179C>T) | gnomAD v4 |
12 | g.114354353G>T | CA2621123924 | TBX5 | c.*1179C>A (n.*1179C>A) | gnomAD v4 |
12 | g.114354359C>A | CA244261958 | TBX5 | c.*1173G>T (n.*1173G>T) | dbSNP |
12 | g.114354359C= | CA2064632878 | TBX5 | c.*1173G= (n.*1173G=) | |
12 | g.114354359C>G | CA683909209 | TBX5 | c.*1173G>C (n.*1173G>C) | dbSNP |
12 | g.114354362T>A | CA2797548209 | TBX5 | c.*1170A>T (n.*1170A>T) | |
12 | g.114354362T>C | CA683909220 | TBX5 | c.*1170A>G (n.*1170A>G) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.114354362T= | CA2064632879 | TBX5 | c.*1170A= (n.*1170A=) | |
12 | g.114354363A>G | CA2569777984 | TBX5 | c.*1169T>C (n.*1169T>C) | |
12 | g.114354365C>A | CA2528193818 | TBX5 | c.*1167G>T (n.*1167G>T) | |
12 | g.114354368A= | CA2064632881 | TBX5 | c.*1164T= (n.*1164T=) | |
12 | g.114354368A>G | CA2064632880 | TBX5 | c.*1164T>C (n.*1164T>C) | dbSNP |
12 | g.114354370C>T | CA2556542951 | TBX5 | c.*1162G>A (n.*1162G>A) | |
12 | g.114354371A>G | CA2501968040 | TBX5 | c.*1161T>C (n.*1161T>C) | |
12 | g.114354372C>T | CA2565041801 | TBX5 | c.*1160G>A (n.*1160G>A) | |
12 | g.114354379T>C | CA2064632883 | TBX5 | c.*1153A>G (n.*1153A>G) | dbSNP |
12 | g.114354379T= | CA2064632882 | TBX5 | c.*1153A= (n.*1153A=) | |
12 | g.114354380dup | CA683909221 | TBX5 | c.*1152dup (n.*1152dup) | dbSNP |
12 | g.114354381C>A | CA2621123925 | TBX5 | c.*1151G>T (n.*1151G>T) | gnomAD v4 |
12 | g.114354381C= | CA2064632884 | TBX5 | c.*1151G= (n.*1151G=) | |
12 | g.114354381C>T | CA952036736 | TBX5 | c.*1151G>A (n.*1151G>A) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.114354383C>A | CA2621123926 | TBX5 | c.*1149G>T (n.*1149G>T) | gnomAD v4 |
12 | g.114354384A>T | CA2797548210 | TBX5 | c.*1148T>A (n.*1148T>A) | |
12 | g.114354385_114354386delinsCT | CA2064632885 | TBX5 | c.*1146_*1147delinsAG (n.*1146_*1147delinsAG) | |
12 | g.114354386T>C | CA2621123928 | TBX5 | c.*1146A>G (n.*1146A>G) | gnomAD v4 |
12 | g.114354392dup | CA2621123927 | TBX5 | c.*1146dup (n.*1146dup) | gnomAD v4 |
12 | g.114354392del | CA952036737 | TBX5 | c.*1146del (n.*1146del) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.114354387T>A | CA683909246 | TBX5 | c.*1145A>T (n.*1145A>T) | dbSNP |
12 | g.114354387T= | CA2064632886 | TBX5 | c.*1145A= (n.*1145A=) | |
12 | g.114354392T>A | CA683909249 | TBX5 | c.*1140A>T (n.*1140A>T) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.114354392T= | CA2064632887 | TBX5 | c.*1140A= (n.*1140A=) | |
12 | g.114354392_114354393insTTA | CA2537618433 | TBX5 | c.*1139_*1140insTAA (n.*1139_*1140insTAA) | |
12 | g.114354394A= | CA2064632888 | TBX5 | c.*1138T= (n.*1138T=) | |
12 | g.114354394A>T | CA607711356 | TBX5 | c.*1138T>A (n.*1138T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114354395T>C | CA2529727790 | TBX5 | c.*1137A>G (n.*1137A>G) | |
12 | g.114354396A= | CA2064632889 | TBX5 | c.*1136T= (n.*1136T=) | |
12 | g.114354396A>T | CA607711357 | TBX5 | c.*1136T>A (n.*1136T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114354397C>T | CA952036739 | TBX5 | c.*1135G>A (n.*1135G>A) | gnomAD v3 gnomAD v4 |
12 | g.114354397_114354398delinsCT | CA2064632890 | TBX5 | c.*1134_*1135delinsAG (n.*1134_*1135delinsAG) | |
12 | g.114354398del | CA607711358 | TBX5 | c.*1134del (n.*1134del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114354398T>C | CA2529035214 | TBX5 | c.*1134A>G (n.*1134A>G) | |
12 | g.114354399G>T | CA607711359 | TBX5 | c.*1133C>A (n.*1133C>A) | gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114354403T>G | CA952036740 | TBX5 | c.*1129A>C (n.*1129A>C) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.114354403T= | CA2064632891 | TBX5 | c.*1129A= (n.*1129A=) | |
12 | g.114354404C= | CA2064632892 | TBX5 | c.*1128G= (n.*1128G=) | |
12 | g.114354404C>T | CA683909258 | TBX5 | c.*1128G>A (n.*1128G>A) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.114354405G>A | CA683909261 | TBX5 | c.*1127C>T (n.*1127C>T) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.114354405G>C | CA2064632894 | TBX5 | c.*1127C>G (n.*1127C>G) | dbSNP |
12 | g.114354405G= | CA2064632893 | TBX5 | c.*1127C= (n.*1127C=) | |
12 | g.114354405G>T | CA683909264 | TBX5 | c.*1127C>A (n.*1127C>A) | dbSNP gnomAD v4 |
12 | g.114354407C>A | CA2621123929 | TBX5 | c.*1125G>T (n.*1125G>T) | gnomAD v4 |
12 | g.114354407C>T | CA2621123930 | TBX5 | c.*1125G>A (n.*1125G>A) | gnomAD v4 |
12 | g.114354410T>C | CA2621123931 | TBX5 | c.*1122A>G (n.*1122A>G) | gnomAD v4 |
12 | g.114354411C>T | CA2621123932 | TBX5 | c.*1121G>A (n.*1121G>A) | gnomAD v4 |
12 | g.114354412A>G | CA2621123933 | TBX5 | c.*1120T>C (n.*1120T>C) | gnomAD v4 |
12 | g.114354413G>T | CA2621123934 | TBX5 | c.*1119C>A (n.*1119C>A) | gnomAD v4 |
12 | g.114354417A>T | CA2504352388 | TBX5 | c.*1115T>A (n.*1115T>A) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.114354418C>A | CA2621123935 | TBX5 | c.*1114G>T (n.*1114G>T) | gnomAD v4 |
12 | g.114354420C>A | CA683909269 | TBX5 | c.*1112G>T (n.*1112G>T) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.114354420C= | CA2064632895 | TBX5 | c.*1112G= (n.*1112G=) | |
12 | g.114354421A= | CA2064632896 | TBX5 | c.*1111T= (n.*1111T=) | |
12 | g.114354421A>G | CA10640306 | TBX5 | c.*1111T>C (n.*1111T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114354422G>T | CA2621123936 | TBX5 | c.*1110C>A (n.*1110C>A) | gnomAD v4 |
12 | g.114354423T>G | CA2621123937 | TBX5 | c.*1109A>C (n.*1109A>C) | gnomAD v4 |
12 | g.114354424T>C | CA2621123938 | TBX5 | c.*1108A>G (n.*1108A>G) | gnomAD v4 |
12 | g.114354424T>G | CA2621123939 | TBX5 | c.*1108A>C (n.*1108A>C) | gnomAD v4 |
12 | g.114354425T>C | CA2621123940 | TBX5 | c.*1107A>G (n.*1107A>G) | gnomAD v4 |
12 | g.114354426T>C | CA2621123941 | TBX5 | c.*1106A>G (n.*1106A>G) | gnomAD v4 |
12 | g.114354427G>A | CA2621123942 | TBX5 | c.*1105C>T (n.*1105C>T) | gnomAD v4 |
12 | g.114354427G= | CA2064632897 | TBX5 | c.*1105C= (n.*1105C=) | |
12 | g.114354427G>T | CA2064632898 | TBX5 | c.*1105C>A (n.*1105C>A) | dbSNP gnomAD v4 |
12 | g.114354428T>C | CA2621123943 | TBX5 | c.*1104A>G (n.*1104A>G) | gnomAD v4 |
12 | g.114354429G>A | CA683909291 | TBX5 | c.*1103C>T (n.*1103C>T) | dbSNP |
12 | g.114354429G= | CA2064632899 | TBX5 | c.*1103C= (n.*1103C=) | |
12 | g.114354429G>T | CA2621123944 | TBX5 | c.*1103C>A (n.*1103C>A) | gnomAD v4 |
12 | g.114354431T>A | CA952036741 | TBX5 | c.*1101A>T (n.*1101A>T) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.114354431T>C | CA10632067 | TBX5 | c.*1101A>G (n.*1101A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114354431T>G | CA2581121728 | TBX5 | c.*1101A>C (n.*1101A>C) | |
12 | g.114354431T= | CA1630855786 | TBX5 | c.*1101A= (n.*1101A=) | |
12 | g.114354432G>A | CA683909299 | TBX5 | c.*1100C>T (n.*1100C>T) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.114354432G>C | CA2064632901 | TBX5 | c.*1100C>G (n.*1100C>G) | dbSNP |
12 | g.114354432G= | CA2064632900 | TBX5 | c.*1100C= (n.*1100C=) | |
12 | g.114354432G>T | CA2621123945 | TBX5 | c.*1100C>A (n.*1100C>A) | gnomAD v4 |
12 | g.114354433G>C | CA2621123946 | TBX5 | c.*1099C>G (n.*1099C>G) | gnomAD v4 |
12 | g.114354433G>T | CA2621123947 | TBX5 | c.*1099C>A (n.*1099C>A) | gnomAD v4 |
12 | g.114354433_114354434del | CA952036745 | TBX5 | c.*1098_*1099del (n.*1098_*1099del) | gnomAD v3 gnomAD v4 |
12 | g.114354434C>A | CA2064632903 | TBX5 | c.*1098G>T (n.*1098G>T) | dbSNP gnomAD v4 |
12 | g.114354434C= | CA2064632902 | TBX5 | c.*1098G= (n.*1098G=) | |
12 | g.114354434C>T | CA2621123948 | TBX5 | c.*1098G>A (n.*1098G>A) | gnomAD v4 |
12 | g.114354435A= | CA2064632904 | TBX5 | c.*1097T= (n.*1097T=) | |
12 | g.114354435A>G | CA607711438 | TBX5 | c.*1097T>C (n.*1097T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114354436T>C | CA2797548214 | TBX5 | c.*1096A>G (n.*1096A>G) | |
12 | g.114354436_114354437insC | CA952036746 | TBX5 | c.*1095_*1096insG (n.*1095_*1096insG) | gnomAD v3 gnomAD v4 |
12 | g.114354438G>A | CA2621123949 | TBX5 | c.*1094C>T (n.*1094C>T) | gnomAD v4 |
12 | g.114354438G>C | CA683909302 | TBX5 | c.*1094C>G (n.*1094C>G) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.114354438G= | CA2064632905 | TBX5 | c.*1094C= (n.*1094C=) | |
12 | g.114354438G>T | CA244261974 | TBX5 | c.*1094C>A (n.*1094C>A) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.114354439G>T | CA2621123950 | TBX5 | c.*1093C>A (n.*1093C>A) | gnomAD v4 |
12 | g.114354440del | CA952036748 | TBX5 | c.*1092del (n.*1092del) | gnomAD v3 gnomAD v4 |
12 | g.114354440T>G | CA2621123951 | TBX5 | c.*1092A>C (n.*1092A>C) | gnomAD v4 |
12 | g.114354441G>A | CA2621123952 | TBX5 | c.*1091C>T (n.*1091C>T) | gnomAD v4 |
12 | g.114354443G= | CA2064632906 | TBX5 | c.*1089C= (n.*1089C=) | |
12 | g.114354443G>T | CA952036749 | TBX5 | c.*1089C>A (n.*1089C>A) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.114354445del | CA2797548215 | TBX5 | c.*1089del (n.*1089del) | |
12 | g.114354444G>T | CA2621123953 | TBX5 | c.*1088C>A (n.*1088C>A) | gnomAD v4 |
12 | g.114354445G>T | CA952036750 | TBX5 | c.*1087C>A (n.*1087C>A) | gnomAD v3 gnomAD v4 |
12 | g.114354446C= | CA2064632907 | TBX5 | c.*1086G= (n.*1086G=) | |
12 | g.114354446C>T | CA244261978 | TBX5 | c.*1086G>A (n.*1086G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114354447G>A | CA244261981 | TBX5 | c.*1085C>T (n.*1085C>T) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.114354447G= | CA2064632908 | TBX5 | c.*1085C= (n.*1085C=) | |
12 | g.114354448T>C | CA952036753 | TBX5 | c.*1084A>G (n.*1084A>G) | gnomAD v3 gnomAD v4 |
12 | g.114354449G>A | CA2621123954 | TBX5 | c.*1083C>T (n.*1083C>T) | gnomAD v4 |
12 | g.114354449G>C | CA952036755 | TBX5 | c.*1083C>G (n.*1083C>G) | gnomAD v3 gnomAD v4 |