Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.139561945del | CA2461412261 | F9 | c.1260del (p.Thr422ProfsTer4) n.1723+204del c.1146del (p.Thr384ProfsTer4) c.1131del (p.Thr379ProfsTer4) | dbSNP |
X | g.139561945A>C | CA414446914 | F9 | c.1260A>C (p.Glu420Asp) n.1723+204A>C c.1146A>C (p.Glu382Asp) c.1131A>C (p.Glu377Asp) | |
X | g.139561945A>G | CA518863980 | F9 | c.1260A>G (p.Glu420=) n.1723+204A>G c.1146A>G (p.Glu382=) c.1131A>G (p.Glu377=) | |
X | g.139561945A>T | CA414446917 | F9 | c.1260A>T (p.Glu420Asp) n.1723+204A>T c.1146A>T (p.Glu382Asp) c.1131A>T (p.Glu377Asp) | dbSNP |
X | g.139561946G>A | CA414446920 | F9 | c.1261G>A (p.Gly421Arg) n.1723+205G>A c.1147G>A (p.Gly383Arg) c.1132G>A (p.Gly378Arg) | COSMIC |
X | g.139561946G>C | CA414446923 | F9 | c.1261G>C (p.Gly421Arg) n.1723+205G>C c.1147G>C (p.Gly383Arg) c.1132G>C (p.Gly378Arg) | |
X | g.139561946G>T | CA414446925 | F9 | c.1261G>T (p.Gly421Trp) n.1723+205G>T c.1147G>T (p.Gly383Trp) c.1132G>T (p.Gly378Trp) | |
X | g.139561947G>A | CA414446929 | F9 | c.1262G>A (p.Gly421Glu) n.1723+206G>A c.1148G>A (p.Gly383Glu) c.1133G>A (p.Gly378Glu) | dbSNP COSMIC |
X | g.139561947G>C | CA414446930 | F9 | c.1262G>C (p.Gly421Ala) n.1723+206G>C c.1148G>C (p.Gly383Ala) c.1133G>C (p.Gly378Ala) | |
X | g.139561947G= | CA2461412263 | F9 | c.1262G= (p.Gly421=) n.1723+206G= c.1148G= (p.Gly383=) c.1133G= (p.Gly378=) | |
X | g.139561947G>T | CA414446933 | F9 | c.1262G>T (p.Gly421Val) n.1723+206G>T c.1148G>T (p.Gly383Val) c.1133G>T (p.Gly378Val) | |
X | g.139561948G>A | CA10529883 | F9 | c.1263G>A (p.Gly421=) n.1723+207G>A c.1149G>A (p.Gly383=) c.1134G>A (p.Gly378=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.139561948G>C | CA518864002 | F9 | c.1263G>C (p.Gly421=) n.1723+207G>C c.1149G>C (p.Gly383=) c.1134G>C (p.Gly378=) | |
X | g.139561948G= | CA2461412264 | F9 | c.1263G= (p.Gly421=) n.1723+207G= c.1149G= (p.Gly383=) c.1134G= (p.Gly378=) | |
X | g.139561948G>T | CA518864005 | F9 | c.1263G>T (p.Gly421=) n.1723+207G>T c.1149G>T (p.Gly383=) c.1134G>T (p.Gly378=) | |
X | g.139561949A>C | CA414446939 | F9 | c.1264A>C (p.Thr422Pro) n.1723+208A>C c.1150A>C (p.Thr384Pro) c.1135A>C (p.Thr379Pro) | |
X | g.139561949A>G | CA414446936 | F9 | c.1264A>G (p.Thr422Ala) n.1723+208A>G c.1150A>G (p.Thr384Ala) c.1135A>G (p.Thr379Ala) | |
X | g.139561949A>T | CA414446943 | F9 | c.1264A>T (p.Thr422Ser) n.1723+208A>T c.1150A>T (p.Thr384Ser) c.1135A>T (p.Thr379Ser) | |
X | g.139561950C>A | CA414446944 | F9 | c.1265C>A (p.Thr422Asn) n.1723+209C>A c.1151C>A (p.Thr384Asn) c.1136C>A (p.Thr379Asn) | |
X | g.139561950C= | CA2461412265 | F9 | c.1265C= (p.Thr422=) n.1723+209C= c.1151C= (p.Thr384=) c.1136C= (p.Thr379=) | |
X | g.139561950C>G | CA414446945 | F9 | c.1265C>G (p.Thr422Ser) n.1723+209C>G c.1151C>G (p.Thr384Ser) c.1136C>G (p.Thr379Ser) | |
X | g.139561950C>T | CA10529884 | F9 | c.1265C>T (p.Thr422Ile) n.1723+209C>T c.1151C>T (p.Thr384Ile) c.1136C>T (p.Thr379Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.139561951C>A | CA518864019 | F9 | c.1266C>A (p.Thr422=) n.1723+210C>A c.1152C>A (p.Thr384=) c.1137C>A (p.Thr379=) | gnomAD v4 |
X | g.139561951C>G | CA518864021 | F9 | c.1266C>G (p.Thr422=) n.1723+210C>G c.1152C>G (p.Thr384=) c.1137C>G (p.Thr379=) | |
X | g.139561951C>T | CA518864023 | F9 | c.1266C>T (p.Thr422=) n.1723+210C>T c.1152C>T (p.Thr384=) c.1137C>T (p.Thr379=) | |
X | g.139561952A= | CA2461412266 | F9 | c.1267A= (p.Ser423=) n.1723+211A= c.1153A= (p.Ser385=) c.1138A= (p.Ser380=) | |
X | g.139561952A>C | CA414446949 | F9 | c.1267A>C (p.Ser423Arg) n.1723+211A>C c.1153A>C (p.Ser385Arg) c.1138A>C (p.Ser380Arg) | dbSNP |
X | g.139561952A>G | CA414446950 | F9 | c.1267A>G (p.Ser423Gly) n.1723+211A>G c.1153A>G (p.Ser385Gly) c.1138A>G (p.Ser380Gly) | |
X | g.139561952A>T | CA414446952 | F9 | c.1267A>T (p.Ser423Cys) n.1723+211A>T c.1153A>T (p.Ser385Cys) c.1138A>T (p.Ser380Cys) | |
X | g.139561952dup | CA2695236402 | F9 | c.1267dup (p.Ser423LysfsTer8) n.1723+211dup c.1153dup (p.Ser385LysfsTer8) c.1138dup (p.Ser380LysfsTer8) | |
X | g.139561953G>A | CA414446961 | F9 | c.1268G>A (p.Ser423Asn) n.1723+212G>A c.1154G>A (p.Ser385Asn) c.1139G>A (p.Ser380Asn) | |
X | g.139561953G>C | CA414446958 | F9 | c.1268G>C (p.Ser423Thr) n.1723+212G>C c.1154G>C (p.Ser385Thr) c.1139G>C (p.Ser380Thr) | |
X | g.139561953G>T | CA414446956 | F9 | c.1268G>T (p.Ser423Ile) n.1723+212G>T c.1154G>T (p.Ser385Ile) c.1139G>T (p.Ser380Ile) | |
X | g.139561954T>A | CA414446964 | F9 | c.1269T>A (p.Ser423Arg) n.1723+213T>A c.1155T>A (p.Ser385Arg) c.1140T>A (p.Ser380Arg) | |
X | g.139561954T>C | CA10529885 | F9 | c.1269T>C (p.Ser423=) n.1723+213T>C c.1155T>C (p.Ser385=) c.1140T>C (p.Ser380=) | ClinVar dbSNP ExAC gnomAD v2 |
X | g.139561954T>G | CA414446965 | F9 | c.1269T>G (p.Ser423Arg) n.1723+213T>G c.1155T>G (p.Ser385Arg) c.1140T>G (p.Ser380Arg) | |
X | g.139561954T= | CA2461412267 | F9 | c.1269T= (p.Ser423=) n.1723+213T= c.1155T= (p.Ser385=) c.1140T= (p.Ser380=) | |
X | g.139561955T>A | CA414446966 | F9 | c.1270T>A (p.Phe424Ile) n.1723+214T>A c.1156T>A (p.Phe386Ile) c.1141T>A (p.Phe381Ile) | |
X | g.139561955T>C | CA414446967 | F9 | c.1270T>C (p.Phe424Leu) n.1723+214T>C c.1156T>C (p.Phe386Leu) c.1141T>C (p.Phe381Leu) | dbSNP |
X | g.139561955T>G | CA414446969 | F9 | c.1270T>G (p.Phe424Val) n.1723+214T>G c.1156T>G (p.Phe386Val) c.1141T>G (p.Phe381Val) | |
X | g.139561955T= | CA2461412268 | F9 | c.1270T= (p.Phe424=) n.1723+214T= c.1156T= (p.Phe386=) c.1141T= (p.Phe381=) | |
X | g.139561956T>A | CA414446971 | F9 | c.1271T>A (p.Phe424Tyr) n.1723+215T>A c.1157T>A (p.Phe386Tyr) c.1142T>A (p.Phe381Tyr) | |
X | g.139561956T>C | CA414446976 | F9 | c.1271T>C (p.Phe424Ser) n.1723+215T>C c.1157T>C (p.Phe386Ser) c.1142T>C (p.Phe381Ser) | dbSNP |
X | g.139561956T>G | CA414446972 | F9 | c.1271T>G (p.Phe424Cys) n.1723+215T>G c.1157T>G (p.Phe386Cys) c.1142T>G (p.Phe381Cys) | |
X | g.139561956T= | CA2461412269 | F9 | c.1271T= (p.Phe424=) n.1723+215T= c.1157T= (p.Phe386=) c.1142T= (p.Phe381=) | |
X | g.139561957C>A | CA414446985 | F9 | c.1272C>A (p.Phe424Leu) n.1723+216C>A c.1158C>A (p.Phe386Leu) c.1143C>A (p.Phe381Leu) | ClinVar |
X | g.139561957C>G | CA414446989 | F9 | c.1272C>G (p.Phe424Leu) n.1723+216C>G c.1158C>G (p.Phe386Leu) c.1143C>G (p.Phe381Leu) | |
X | g.139561957C>T | CA518864053 | F9 | c.1272C>T (p.Phe424=) n.1723+216C>T c.1158C>T (p.Phe386=) c.1143C>T (p.Phe381=) | |
X | g.139561958T>A | CA414446991 | F9 | c.1273T>A (p.Leu425Ile) n.1723+217T>A c.1159T>A (p.Leu387Ile) c.1144T>A (p.Leu382Ile) | |
X | g.139561958T>C | CA518864058 | F9 | c.1273T>C (p.Leu425=) n.1723+217T>C c.1159T>C (p.Leu387=) c.1144T>C (p.Leu382=) | gnomAD v4 |