| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.186284209G>A | CA3163934 | F11 | c.1091G>A (p.Gly364Asp) c.1253G>A (p.Gly418Asp) c.1256G>A (p.Gly419Asp) c.986G>A (p.Gly329Asp) c.1208G>A (p.Gly403Asp) | dbSNP ExAC gnomAD |
| 4 | g.186284209G>C | CA358942064 | F11 | c.1091G>C (p.Gly364Ala) c.1253G>C (p.Gly418Ala) c.1256G>C (p.Gly419Ala) c.986G>C (p.Gly329Ala) c.1208G>C (p.Gly403Ala) | gnomAD |
| 4 | g.186284209G>T | CA121767 | F11 | c.1091G>T (p.Gly364Val) c.1253G>T (p.Gly418Val) c.1256G>T (p.Gly419Val) c.986G>T (p.Gly329Val) c.1208G>T (p.Gly403Val) | ClinVar dbSNP gnomAD |
| 4 | g.186284210C>A | CA3163935 | F11 | c.1092C>A (p.Gly364=) c.1254C>A (p.Gly418=) c.1257C>A (p.Gly419=) c.987C>A (p.Gly329=) c.1209C>A (p.Gly403=) | dbSNP ExAC gnomAD |
| 4 | g.186284210C>G | CA112102453 | F11 | c.1092C>G (p.Gly364=) c.1254C>G (p.Gly418=) c.1257C>G (p.Gly419=) c.987C>G (p.Gly329=) c.1209C>G (p.Gly403=) | dbSNP |
| 4 | g.186284210C>T | CA442639095 | F11 | c.1092C>T (p.Gly364=) c.1254C>T (p.Gly418=) c.1257C>T (p.Gly419=) c.987C>T (p.Gly329=) c.1209C>T (p.Gly403=) | gnomAD |
| 4 | g.186284211T>A | CA3163936 | F11 | c.1093T>A (p.Ser365Thr) c.1255T>A (p.Ser419Thr) c.1258T>A (p.Ser420Thr) c.988T>A (p.Ser330Thr) c.1210T>A (p.Ser404Thr) | dbSNP ExAC gnomAD |
| 4 | g.186284211T>C | CA358942074 | F11 | c.1093T>C (p.Ser365Pro) c.1255T>C (p.Ser419Pro) c.1258T>C (p.Ser420Pro) c.988T>C (p.Ser330Pro) c.1210T>C (p.Ser404Pro) | |
| 4 | g.186284211T>G | CA358942072 | F11 | c.1093T>G (p.Ser365Ala) c.1255T>G (p.Ser419Ala) c.1258T>G (p.Ser420Ala) c.988T>G (p.Ser330Ala) c.1210T>G (p.Ser404Ala) | |
| 4 | g.186284212C>A | CA358942077 | F11 | c.1094C>A (p.Ser365Tyr) c.1256C>A (p.Ser419Tyr) c.1259C>A (p.Ser420Tyr) c.989C>A (p.Ser330Tyr) c.1211C>A (p.Ser404Tyr) | |
| 4 | g.186284212C>G | CA358942079 | F11 | c.1094C>G (p.Ser365Cys) c.1256C>G (p.Ser419Cys) c.1259C>G (p.Ser420Cys) c.989C>G (p.Ser330Cys) c.1211C>G (p.Ser404Cys) | |
| 4 | g.186284212C>T | CA358942081 | F11 | c.1094C>T (p.Ser365Phe) c.1256C>T (p.Ser419Phe) c.1259C>T (p.Ser420Phe) c.989C>T (p.Ser330Phe) c.1211C>T (p.Ser404Phe) | |
| 4 | g.186284213C>A | CA442639099 | F11 | c.1095C>A (p.Ser365=) c.1257C>A (p.Ser419=) c.1260C>A (p.Ser420=) c.990C>A (p.Ser330=) c.1212C>A (p.Ser404=) | |
| 4 | g.186284213C>G | CA442639100 | F11 | c.1095C>G (p.Ser365=) c.1257C>G (p.Ser419=) c.1260C>G (p.Ser420=) c.990C>G (p.Ser330=) c.1212C>G (p.Ser404=) | |
| 4 | g.186284213C>T | CA112102480 | F11 | c.1095C>T (p.Ser365=) c.1257C>T (p.Ser419=) c.1260C>T (p.Ser420=) c.990C>T (p.Ser330=) c.1212C>T (p.Ser404=) | dbSNP |
| 4 | g.186284214A>C | CA358942083 | F11 | c.1096A>C (p.Ile366Leu) c.1258A>C (p.Ile420Leu) c.1261A>C (p.Ile421Leu) c.991A>C (p.Ile331Leu) c.1213A>C (p.Ile405Leu) | |
| 4 | g.186284214A>G | CA358942085 | F11 | c.1096A>G (p.Ile366Val) c.1258A>G (p.Ile420Val) c.1261A>G (p.Ile421Val) c.991A>G (p.Ile331Val) c.1213A>G (p.Ile405Val) | |
| 4 | g.186284214A>T | CA358942087 | F11 | c.1096A>T (p.Ile366Phe) c.1258A>T (p.Ile420Phe) c.1261A>T (p.Ile421Phe) c.991A>T (p.Ile331Phe) c.1213A>T (p.Ile405Phe) | |
| 4 | g.186284215T>A | CA358942090 | F11 | c.1097T>A (p.Ile366Asn) c.1259T>A (p.Ile420Asn) c.1262T>A (p.Ile421Asn) c.992T>A (p.Ile331Asn) c.1214T>A (p.Ile405Asn) | |
| 4 | g.186284215T>C | CA3163937 | F11 | c.1097T>C (p.Ile366Thr) c.1259T>C (p.Ile420Thr) c.1262T>C (p.Ile421Thr) c.992T>C (p.Ile331Thr) c.1214T>C (p.Ile405Thr) | dbSNP ExAC gnomAD |
| 4 | g.186284215T>G | CA358942093 | F11 | c.1097T>G (p.Ile366Ser) c.1259T>G (p.Ile420Ser) c.1262T>G (p.Ile421Ser) c.992T>G (p.Ile331Ser) c.1214T>G (p.Ile405Ser) | |
| 4 | g.186284216C>A | CA442639105 | F11 | c.1098C>A (p.Ile366=) c.1260C>A (p.Ile420=) c.1263C>A (p.Ile421=) c.993C>A (p.Ile331=) c.1215C>A (p.Ile405=) | |
| 4 | g.186284216C>G | CA358942095 | F11 | c.1098C>G (p.Ile366Met) c.1260C>G (p.Ile420Met) c.1263C>G (p.Ile421Met) c.993C>G (p.Ile331Met) c.1215C>G (p.Ile405Met) | |
| 4 | g.186284216C>T | CA112102505 | F11 | c.1098C>T (p.Ile366=) c.1260C>T (p.Ile420=) c.1263C>T (p.Ile421=) c.993C>T (p.Ile331=) c.1215C>T (p.Ile405=) | dbSNP |
| 4 | g.186284217A>C | CA358942098 | F11 | c.1099A>C (p.Ile367Leu) c.1261A>C (p.Ile421Leu) c.1264A>C (p.Ile422Leu) c.994A>C (p.Ile332Leu) c.1216A>C (p.Ile406Leu) | |
| 4 | g.186284217A>G | CA112102507 | F11 | c.1099A>G (p.Ile367Val) c.1261A>G (p.Ile421Val) c.1264A>G (p.Ile422Val) c.994A>G (p.Ile332Val) c.1216A>G (p.Ile406Val) | dbSNP |
| 4 | g.186284217A>T | CA358942102 | F11 | c.1099A>T (p.Ile367Phe) c.1261A>T (p.Ile421Phe) c.1264A>T (p.Ile422Phe) c.994A>T (p.Ile332Phe) c.1216A>T (p.Ile406Phe) | |
| 4 | g.186284218T>A | CA358942106 | F11 | c.1100T>A (p.Ile367Asn) c.1262T>A (p.Ile421Asn) c.1265T>A (p.Ile422Asn) c.995T>A (p.Ile332Asn) c.1217T>A (p.Ile406Asn) | |
| 4 | g.186284218T>C | CA358942107 | F11 | c.1100T>C (p.Ile367Thr) c.1262T>C (p.Ile421Thr) c.1265T>C (p.Ile422Thr) c.995T>C (p.Ile332Thr) c.1217T>C (p.Ile406Thr) | |
| 4 | g.186284218T>G | CA358942109 | F11 | c.1100T>G (p.Ile367Ser) c.1262T>G (p.Ile421Ser) c.1265T>G (p.Ile422Ser) c.995T>G (p.Ile332Ser) c.1217T>G (p.Ile406Ser) | |
| 4 | g.186284219T>A | CA442639108 | F11 | c.1101T>A (p.Ile367=) c.1263T>A (p.Ile421=) c.1266T>A (p.Ile422=) c.996T>A (p.Ile332=) c.1218T>A (p.Ile406=) | |
| 4 | g.186284219T>C | CA442639109 | F11 | c.1101T>C (p.Ile367=) c.1263T>C (p.Ile421=) c.1266T>C (p.Ile422=) c.996T>C (p.Ile332=) c.1218T>C (p.Ile406=) | |
| 4 | g.186284219T>G | CA358942112 | F11 | c.1101T>G (p.Ile367Met) c.1263T>G (p.Ile421Met) c.1266T>G (p.Ile422Met) c.996T>G (p.Ile332Met) c.1218T>G (p.Ile406Met) | |
| 4 | g.186284220G>A | CA358942113 | F11 | c.1102G>A (p.Gly368Arg) c.1264G>A (p.Gly422Arg) c.1267G>A (p.Gly423Arg) c.997G>A (p.Gly333Arg) c.1219G>A (p.Gly407Arg) | |
| 4 | g.186284220G>C | CA358942115 | F11 | c.1102G>C (p.Gly368Arg) c.1264G>C (p.Gly422Arg) c.1267G>C (p.Gly423Arg) c.997G>C (p.Gly333Arg) c.1219G>C (p.Gly407Arg) | |
| 4 | g.186284220G>T | CA358942117 | F11 | c.1102G>T (p.Gly368Ter) c.1264G>T (p.Gly422Ter) c.1267G>T (p.Gly423Ter) c.997G>T (p.Gly333Ter) c.1219G>T (p.Gly407Ter) | |
| 4 | g.186284221G>A | CA358942120 | F11 | c.1103G>A (p.Gly368Glu) c.1265G>A (p.Gly422Glu) c.1268G>A (p.Gly423Glu) c.998G>A (p.Gly333Glu) c.1220G>A (p.Gly407Glu) | gnomAD |
| 4 | g.186284221G>C | CA358942124 | F11 | c.1103G>C (p.Gly368Ala) c.1265G>C (p.Gly422Ala) c.1268G>C (p.Gly423Ala) c.998G>C (p.Gly333Ala) c.1220G>C (p.Gly407Ala) | |
| 4 | g.186284221G>T | CA358942122 | F11 | c.1103G>T (p.Gly368Val) c.1265G>T (p.Gly422Val) c.1268G>T (p.Gly423Val) c.998G>T (p.Gly333Val) c.1220G>T (p.Gly407Val) | |
| 4 | g.186284222A>C | CA442639111 | F11 | c.1104A>C (p.Gly368=) c.1266A>C (p.Gly422=) c.1269A>C (p.Gly423=) c.999A>C (p.Gly333=) c.1221A>C (p.Gly407=) | |
| 4 | g.186284222A>G | CA442639112 | F11 | c.1104A>G (p.Gly368=) c.1266A>G (p.Gly422=) c.1269A>G (p.Gly423=) c.999A>G (p.Gly333=) c.1221A>G (p.Gly407=) | |
| 4 | g.186284222A>T | CA442639113 | F11 | c.1104A>T (p.Gly368=) c.1266A>T (p.Gly422=) c.1269A>T (p.Gly423=) c.999A>T (p.Gly333=) c.1221A>T (p.Gly407=) | |
| 4 | g.186284223A>C | CA358942128 | F11 | c.1105A>C (p.Asn369His) c.1267A>C (p.Asn423His) c.1270A>C (p.Asn424His) c.1000A>C (p.Asn334His) c.1222A>C (p.Asn408His) | |
| 4 | g.186284223A>G | CA358942132 | F11 | c.1105A>G (p.Asn369Asp) c.1267A>G (p.Asn423Asp) c.1270A>G (p.Asn424Asp) c.1000A>G (p.Asn334Asp) c.1222A>G (p.Asn408Asp) | gnomAD |
| 4 | g.186284223A>T | CA358942130 | F11 | c.1105A>T (p.Asn369Tyr) c.1267A>T (p.Asn423Tyr) c.1270A>T (p.Asn424Tyr) c.1000A>T (p.Asn334Tyr) c.1222A>T (p.Asn408Tyr) | |
| 4 | g.186284224A>C | CA358942135 | F11 | c.1106A>C (p.Asn369Thr) c.1268A>C (p.Asn423Thr) c.1271A>C (p.Asn424Thr) c.1001A>C (p.Asn334Thr) c.1223A>C (p.Asn408Thr) | |
| 4 | g.186284224A>G | CA358942139 | F11 | c.1106A>G (p.Asn369Ser) c.1268A>G (p.Asn423Ser) c.1271A>G (p.Asn424Ser) c.1001A>G (p.Asn334Ser) c.1223A>G (p.Asn408Ser) | |
| 4 | g.186284224A>T | CA358942136 | F11 | c.1106A>T (p.Asn369Ile) c.1268A>T (p.Asn423Ile) c.1271A>T (p.Asn424Ile) c.1001A>T (p.Asn334Ile) c.1223A>T (p.Asn408Ile) | |
| 4 | g.186284225C>A | CA358942142 | F11 | c.1107C>A (p.Asn369Lys) c.1269C>A (p.Asn423Lys) c.1272C>A (p.Asn424Lys) c.1002C>A (p.Asn334Lys) c.1224C>A (p.Asn408Lys) | |
| 4 | g.186284225C>G | CA358942144 | F11 | c.1107C>G (p.Asn369Lys) c.1269C>G (p.Asn423Lys) c.1272C>G (p.Asn424Lys) c.1002C>G (p.Asn334Lys) c.1224C>G (p.Asn408Lys) |