Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
X | g.139561958T>G | CA414446994 | F9 | c.1273T>G (p.Leu425Val) n.1723+217T>G c.1159T>G (p.Leu387Val) c.1144T>G (p.Leu382Val) | |
X | g.139561959T>A | CA414446997 | F9 | c.1274T>A (p.Leu425Ter) n.1723+218T>A c.1160T>A (p.Leu387Ter) c.1145T>A (p.Leu382Ter) | |
X | g.139561959T>C | CA414447009 | F9 | c.1274T>C (p.Leu425Ser) n.1723+218T>C c.1160T>C (p.Leu387Ser) c.1145T>C (p.Leu382Ser) | dbSNP |
X | g.139561959T>G | CA414447010 | F9 | c.1274T>G (p.Leu425Ter) n.1723+218T>G c.1160T>G (p.Leu387Ter) c.1145T>G (p.Leu382Ter) | |
X | g.139561959T= | CA2461412270 | F9 | c.1274T= (p.Leu425=) n.1723+218T= c.1160T= (p.Leu387=) c.1145T= (p.Leu382=) | |
X | g.139561960A>C | CA414447012 | F9 | c.1275A>C (p.Leu425Phe) n.1723+219A>C c.1161A>C (p.Leu387Phe) c.1146A>C (p.Leu382Phe) | |
X | g.139561960A>G | CA518864065 | F9 | c.1275A>G (p.Leu425=) n.1723+219A>G c.1161A>G (p.Leu387=) c.1146A>G (p.Leu382=) | |
X | g.139561960A>T | CA414447015 | F9 | c.1275A>T (p.Leu425Phe) n.1723+219A>T c.1161A>T (p.Leu387Phe) c.1146A>T (p.Leu382Phe) | |
X | g.139561961A= | CA2461412271 | F9 | c.1276A= (p.Thr426=) n.1723+220A= c.1162A= (p.Thr388=) c.1147A= (p.Thr383=) | |
X | g.139561961A>C | CA414447018 | F9 | c.1276A>C (p.Thr426Pro) n.1723+220A>C c.1162A>C (p.Thr388Pro) c.1147A>C (p.Thr383Pro) | ClinVar dbSNP |
X | g.139561961A>G | CA414447020 | F9 | c.1276A>G (p.Thr426Ala) n.1723+220A>G c.1162A>G (p.Thr388Ala) c.1147A>G (p.Thr383Ala) | |
X | g.139561961A>T | CA414447025 | F9 | c.1276A>T (p.Thr426Ser) n.1723+220A>T c.1162A>T (p.Thr388Ser) c.1147A>T (p.Thr383Ser) | |
X | g.139561962C>A | CA414447027 | F9 | c.1277C>A (p.Thr426Asn) n.1723+221C>A c.1163C>A (p.Thr388Asn) c.1148C>A (p.Thr383Asn) | |
X | g.139561962C>G | CA414447036 | F9 | c.1277C>G (p.Thr426Ser) n.1723+221C>G c.1163C>G (p.Thr388Ser) c.1148C>G (p.Thr383Ser) | |
X | g.139561962C>T | CA414447034 | F9 | c.1277C>T (p.Thr426Ile) n.1723+221C>T c.1163C>T (p.Thr388Ile) c.1148C>T (p.Thr383Ile) | |
X | g.139561963del | CA2695236404 | F9 | c.1278del (p.Gly427GlufsTer11) n.1723+222del c.1164del (p.Gly389GlufsTer11) c.1149del (p.Gly384GlufsTer11) | |
X | g.139561963T>A | CA518864084 | F9 | c.1278T>A (p.Thr426=) n.1723+222T>A c.1164T>A (p.Thr388=) c.1149T>A (p.Thr383=) | |
X | g.139561963T>C | CA518864082 | F9 | c.1278T>C (p.Thr426=) n.1723+222T>C c.1164T>C (p.Thr388=) c.1149T>C (p.Thr383=) |