| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.139561908_139561910del | CA2695236387 | F9 | c.1223_1225del (p.Gln408_Gly409delinsArg) n.1723+167_1723+169del c.1109_1111del (p.Gln370_Gly371delinsArg) c.1094_1096del (p.Gln365_Gly366delinsArg) | |
| X | g.139561909A= | CA2461412236 | F9 | c.1224A= (p.Gln408=) n.1723+168A= c.1110A= (p.Gln370=) c.1095A= (p.Gln365=) | |
| X | g.139561909A>C | CA414446611 | F9 | c.1224A>C (p.Gln408His) n.1723+168A>C c.1110A>C (p.Gln370His) c.1095A>C (p.Gln365His) | |
| X | g.139561909A>G | CA518917129 | F9 | c.1224A>G (p.Gln408=) n.1723+168A>G c.1110A>G (p.Gln370=) c.1095A>G (p.Gln365=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.139561909A>T | CA414446609 | F9 | c.1224A>T (p.Gln408His) n.1723+168A>T c.1110A>T (p.Gln370His) c.1095A>T (p.Gln365His) | |
| X | g.139561910G>A | CA414446612 | F9 | c.1225G>A (p.Gly409Arg) n.1723+169G>A c.1111G>A (p.Gly371Arg) c.1096G>A (p.Gly366Arg) | dbSNP |
| X | g.139561910G>C | CA414446613 | F9 | c.1225G>C (p.Gly409Arg) n.1723+169G>C c.1111G>C (p.Gly371Arg) c.1096G>C (p.Gly366Arg) | |
| X | g.139561910G= | CA2461412237 | F9 | c.1225G= (p.Gly409=) n.1723+169G= c.1111G= (p.Gly371=) c.1096G= (p.Gly366=) | |
| X | g.139561910G>T | CA414446614 | F9 | c.1225G>T (p.Gly409Ter) n.1723+169G>T c.1111G>T (p.Gly371Ter) c.1096G>T (p.Gly366Ter) | |
| X | g.139561911G>A | CA414446615 | F9 | c.1226G>A (p.Gly409Glu) n.1723+170G>A c.1112G>A (p.Gly371Glu) c.1097G>A (p.Gly366Glu) | |
| X | g.139561911G>C | CA414446616 | F9 | c.1226G>C (p.Gly409Ala) n.1723+170G>C c.1112G>C (p.Gly371Ala) c.1097G>C (p.Gly366Ala) | dbSNP |
| X | g.139561911G= | CA2461412238 | F9 | c.1226G= (p.Gly409=) n.1723+170G= c.1112G= (p.Gly371=) c.1097G= (p.Gly366=) | |
| X | g.139561911G>T | CA336143415 | F9 | c.1226G>T (p.Gly409Val) n.1723+170G>T c.1112G>T (p.Gly371Val) c.1097G>T (p.Gly366Val) | dbSNP |
| X | g.139561912A>C | CA518917130 | F9 | c.1227A>C (p.Gly409=) n.1723+171A>C c.1113A>C (p.Gly371=) c.1098A>C (p.Gly366=) | |
| X | g.139561912A>G | CA518917132 | F9 | c.1227A>G (p.Gly409=) n.1723+171A>G c.1113A>G (p.Gly371=) c.1098A>G (p.Gly366=) | |
| X | g.139561912A>T | CA518917131 | F9 | c.1227A>T (p.Gly409=) n.1723+171A>T c.1113A>T (p.Gly371=) c.1098A>T (p.Gly366=) | |
| X | g.139561914_139561917dup | CA872128313 | F9 | c.1229_1232dup (p.Ser411ArgfsTer2) n.1723+173_1723+176dup c.1115_1118dup (p.Ser373ArgfsTer2) c.1100_1103dup (p.Ser368ArgfsTer2) | dbSNP |
| X | g.139561913G>A | CA414446630 | F9 | c.1228G>A (p.Asp410Asn) n.1723+172G>A c.1114G>A (p.Asp372Asn) c.1099G>A (p.Asp367Asn) | COSMIC |
| X | g.139561913G>C | CA255443 | F9 | c.1228G>C (p.Asp410His) n.1723+172G>C c.1114G>C (p.Asp372His) c.1099G>C (p.Asp367His) | ClinVar dbSNP |
| X | g.139561913G= | CA2461412239 | F9 | c.1228G= (p.Asp410=) n.1723+172G= c.1114G= (p.Asp372=) c.1099G= (p.Asp367=) | |
| X | g.139561913G>T | CA414446623 | F9 | c.1228G>T (p.Asp410Tyr) n.1723+172G>T c.1114G>T (p.Asp372Tyr) c.1099G>T (p.Asp367Tyr) | |
| X | g.139561914A= | CA2461412240 | F9 | c.1229A= (p.Asp410=) n.1723+173A= c.1115A= (p.Asp372=) c.1100A= (p.Asp367=) | |
| X | g.139561914A>C | CA414446632 | F9 | c.1229A>C (p.Asp410Ala) n.1723+173A>C c.1115A>C (p.Asp372Ala) c.1100A>C (p.Asp367Ala) | |
| X | g.139561914A>G | CA414446634 | F9 | c.1229A>G (p.Asp410Gly) n.1723+173A>G c.1115A>G (p.Asp372Gly) c.1100A>G (p.Asp367Gly) | |
| X | g.139561914A>T | CA414446636 | F9 | c.1229A>T (p.Asp410Val) n.1723+173A>T c.1115A>T (p.Asp372Val) c.1100A>T (p.Asp367Val) | ClinVar dbSNP |
| X | g.139561915T>A | CA414446653 | F9 | c.1230T>A (p.Asp410Glu) n.1723+174T>A c.1116T>A (p.Asp372Glu) c.1101T>A (p.Asp367Glu) | COSMIC |
| X | g.139561915T>C | CA518917133 | F9 | c.1230T>C (p.Asp410=) n.1723+174T>C c.1116T>C (p.Asp372=) c.1101T>C (p.Asp367=) | |
| X | g.139561915T>G | CA414446656 | F9 | c.1230T>G (p.Asp410Glu) n.1723+174T>G c.1116T>G (p.Asp372Glu) c.1101T>G (p.Asp367Glu) | |
| X | g.139561915_139561916delinsCG | CA2695236388 | F9 | c.1230_1231delinsCG (p.Ser411Gly) n.1723+174_1723+175delinsCG c.1116_1117delinsCG (p.Ser373Gly) c.1101_1102delinsCG (p.Ser368Gly) | |
| X | g.139561916A= | CA2461412241 | F9 | c.1231A= (p.Ser411=) n.1723+175A= c.1117A= (p.Ser373=) c.1102A= (p.Ser368=) | |
| X | g.139561916A>C | CA414446661 | F9 | c.1231A>C (p.Ser411Arg) n.1723+175A>C c.1117A>C (p.Ser373Arg) c.1102A>C (p.Ser368Arg) | |
| X | g.139561916A>G | CA255441 | F9 | c.1231A>G (p.Ser411Gly) n.1723+175A>G c.1117A>G (p.Ser373Gly) c.1102A>G (p.Ser368Gly) | ClinVar dbSNP |
| X | g.139561916A>T | CA414446664 | F9 | c.1231A>T (p.Ser411Cys) n.1723+175A>T c.1117A>T (p.Ser373Cys) c.1102A>T (p.Ser368Cys) | |
| X | g.139561917G>A | CA414446680 | F9 | c.1232G>A (p.Ser411Asn) n.1723+176G>A c.1118G>A (p.Ser373Asn) c.1103G>A (p.Ser368Asn) | |
| X | g.139561917G>C | CA414446686 | F9 | c.1232G>C (p.Ser411Thr) n.1723+176G>C c.1118G>C (p.Ser373Thr) c.1103G>C (p.Ser368Thr) | |
| X | g.139561917G= | CA2461412242 | F9 | c.1232G= (p.Ser411=) n.1723+176G= c.1118G= (p.Ser373=) c.1103G= (p.Ser368=) | |
| X | g.139561917G>T | CA255439 | F9 | c.1232G>T (p.Ser411Ile) n.1723+176G>T c.1118G>T (p.Ser373Ile) c.1103G>T (p.Ser368Ile) | ClinVar dbSNP |
| X | g.139561917_139561919delinsTT | CA2695236390 | F9 | c.1232_1234delinsTT (p.Ser411IlefsTer15) n.1723+176_1723+178delinsTT c.1118_1120delinsTT (p.Ser373IlefsTer15) c.1103_1105delinsTT (p.Ser368IlefsTer15) | |
| X | g.139561918T>A | CA414446695 | F9 | c.1233T>A (p.Ser411Arg) n.1723+177T>A c.1119T>A (p.Ser373Arg) c.1104T>A (p.Ser368Arg) | |
| X | g.139561918T>C | CA518917134 | F9 | c.1233T>C (p.Ser411=) n.1723+177T>C c.1119T>C (p.Ser373=) c.1104T>C (p.Ser368=) | gnomAD v4 |
| X | g.139561918T>G | CA414446697 | F9 | c.1233T>G (p.Ser411Arg) n.1723+177T>G c.1119T>G (p.Ser373Arg) c.1104T>G (p.Ser368Arg) | COSMIC |
| X | g.139561919G>A | CA414446701 | F9 | c.1234G>A (p.Gly412Arg) n.1723+178G>A c.1120G>A (p.Gly374Arg) c.1105G>A (p.Gly369Arg) | |
| X | g.139561919G>C | CA414446703 | F9 | c.1234G>C (p.Gly412Arg) n.1723+178G>C c.1120G>C (p.Gly374Arg) c.1105G>C (p.Gly369Arg) | |
| X | g.139561919G>T | CA414446705 | F9 | c.1234G>T (p.Gly412Trp) n.1723+178G>T c.1120G>T (p.Gly374Trp) c.1105G>T (p.Gly369Trp) | |
| X | g.139561920G>A | CA414446709 | F9 | c.1235G>A (p.Gly412Glu) n.1723+179G>A c.1121G>A (p.Gly374Glu) c.1106G>A (p.Gly369Glu) | dbSNP |
| X | g.139561920G>C | CA414446711 | F9 | c.1235G>C (p.Gly412Ala) n.1723+179G>C c.1121G>C (p.Gly374Ala) c.1106G>C (p.Gly369Ala) | |
| X | g.139561920G= | CA2461412243 | F9 | c.1235G= (p.Gly412=) n.1723+179G= c.1121G= (p.Gly374=) c.1106G= (p.Gly369=) | |
| X | g.139561920G>T | CA414446716 | F9 | c.1235G>T (p.Gly412Val) n.1723+179G>T c.1121G>T (p.Gly374Val) c.1106G>T (p.Gly369Val) | |
| X | g.139561921G>A | CA518917137 | F9 | c.1236G>A (p.Gly412=) n.1723+180G>A c.1122G>A (p.Gly374=) c.1107G>A (p.Gly369=) | |
| X | g.139561921G>C | CA518917135 | F9 | c.1236G>C (p.Gly412=) n.1723+180G>C c.1122G>C (p.Gly374=) c.1107G>C (p.Gly369=) |