| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.6019496G>A | CA114125 | VWF | c.3922C>T (p.Arg1308Cys) n.421-25562C>T | ClinVar dbSNP |
| 12 | g.6019496G>C | CA383506201 | VWF | c.3922C>G (p.Arg1308Gly) n.421-25562C>G | |
| 12 | g.6019496G= | CA2013873012 | VWF | c.3922C= (p.Arg1308=) n.421-25562C= | |
| 12 | g.6019496G>T | CA383506203 | VWF | c.3922C>A (p.Arg1308Ser) n.421-25562C>A | |
| 12 | g.6019497C>A | CA478502927 | VWF | c.3921G>T (p.Leu1307=) n.421-25563G>T | |
| 12 | g.6019497C>G | CA478502928 | VWF | c.3921G>C (p.Leu1307=) n.421-25563G>C | |
| 12 | g.6019497C>T | CA478502930 | VWF | c.3921G>A (p.Leu1307=) n.421-25563G>A | |
| 12 | g.6019498A= | CA2013873013 | VWF | c.3920T= (p.Leu1307=) n.421-25564T= | |
| 12 | g.6019498A>C | CA383506205 | VWF | c.3920T>G (p.Leu1307Arg) n.421-25564T>G | |
| 12 | g.6019498A>G | CA228486 | VWF | c.3920T>C (p.Leu1307Pro) n.421-25564T>C | ClinVar dbSNP |
| 12 | g.6019498A>T | CA383506207 | VWF | c.3920T>A (p.Leu1307Gln) n.421-25564T>A | |
| 12 | g.6019499G>A | CA478502933 | VWF | c.3919C>T (p.Leu1307=) n.421-25565C>T | dbSNP |
| 12 | g.6019499G>C | CA383506209 | VWF | c.3919C>G (p.Leu1307Val) n.421-25565C>G | |
| 12 | g.6019499G= | CA2013873014 | VWF | c.3919C= (p.Leu1307=) n.421-25565C= | |
| 12 | g.6019499G>T | CA383506211 | VWF | c.3919C>A (p.Leu1307Met) n.421-25565C>A | |
| 12 | g.6019500C>A | CA478502936 | VWF | c.3918G>T (p.Arg1306=) n.421-25566G>T | gnomAD v4 |
| 12 | g.6019500C>G | CA478502937 | VWF | c.3918G>C (p.Arg1306=) n.421-25566G>C | |
| 12 | g.6019500C>T | CA478502935 | VWF | c.3918G>A (p.Arg1306=) n.421-25566G>A | gnomAD v4 |
| 12 | g.6019501C>A | CA228484 | VWF | c.3917G>T (p.Arg1306Leu) n.421-25567G>T | ClinVar dbSNP gnomAD v4 |
| 12 | g.6019501C= | CA2013873015 | VWF | c.3917G= (p.Arg1306=) n.421-25567G= | |
| 12 | g.6019501C>G | CA383506213 | VWF | c.3917G>C (p.Arg1306Pro) n.421-25567G>C | ClinVar dbSNP |
| 12 | g.6019501C>T | CA228482 | VWF | c.3917G>A (p.Arg1306Gln) n.421-25567G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.6019502G>A | CA114123 | VWF | c.3916C>T (p.Arg1306Trp) n.421-25568C>T | ClinVar dbSNP |
| 12 | g.6019502G>C | CA383506218 | VWF | c.3916C>G (p.Arg1306Gly) n.421-25568C>G | |
| 12 | g.6019502G= | CA2013873016 | VWF | c.3916C= (p.Arg1306=) n.421-25568C= | |
| 12 | g.6019502G>T | CA478502941 | VWF | c.3916C>A (p.Arg1306=) n.421-25568C>A | dbSNP gnomAD v4 |
| 12 | g.6019503C>A | CA383506221 | VWF | c.3915G>T (p.Glu1305Asp) n.421-25569G>T | |
| 12 | g.6019503C>G | CA383506223 | VWF | c.3915G>C (p.Glu1305Asp) n.421-25569G>C | |
| 12 | g.6019503C>T | CA478502942 | VWF | c.3915G>A (p.Glu1305=) n.421-25569G>A | gnomAD v4 COSMIC |
| 12 | g.6019504T>A | CA383506226 | VWF | c.3914A>T (p.Glu1305Val) n.421-25570A>T | |
| 12 | g.6019504T>C | CA383506227 | VWF | c.3914A>G (p.Glu1305Gly) n.421-25570A>G | dbSNP gnomAD v4 |
| 12 | g.6019504T>G | CA383506232 | VWF | c.3914A>C (p.Glu1305Ala) n.421-25570A>C | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.6019504T= | CA2013873017 | VWF | c.3914A= (p.Glu1305=) n.421-25570A= | |
| 12 | g.6019505C>A | CA383506235 | VWF | c.3913G>T (p.Glu1305Ter) n.421-25571G>T | |
| 12 | g.6019505C= | CA2013873018 | VWF | c.3913G= (p.Glu1305=) n.421-25571G= | |
| 12 | g.6019505C>G | CA383506236 | VWF | c.3913G>C (p.Glu1305Gln) n.421-25571G>C | |
| 12 | g.6019505C>T | CA383506237 | VWF | c.3913G>A (p.Glu1305Lys) n.421-25571G>A | |
| 12 | g.6019506C>A | CA383506245 | VWF | c.3912G>T (p.Met1304Ile) n.421-25572G>T | |
| 12 | g.6019506C>G | CA383506249 | VWF | c.3912G>C (p.Met1304Ile) n.421-25572G>C | |
| 12 | g.6019506C>T | CA383506241 | VWF | c.3912G>A (p.Met1304Ile) n.421-25572G>A | |
| 12 | g.6019509_6019511dup | CA228480 | VWF | c.3910_3912dup (p.Met1304_Glu1305insMet) n.421-25574_421-25572dup | ClinVar dbSNP |
| 12 | g.6019507A= | CA2013873019 | VWF | c.3911T= (p.Met1304=) n.421-25573T= | |
| 12 | g.6019507A>C | CA383506253 | VWF | c.3911T>G (p.Met1304Arg) n.421-25573T>G | |
| 12 | g.6019507A>G | CA6402651 | VWF | c.3911T>C (p.Met1304Thr) n.421-25573T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.6019507A>T | CA383506260 | VWF | c.3911T>A (p.Met1304Lys) n.421-25573T>A | |
| 12 | g.6019508T>A | CA383506264 | VWF | c.3910A>T (p.Met1304Leu) n.421-25574A>T | |
| 12 | g.6019508T>C | CA228478 | VWF | c.3910A>G (p.Met1304Val) n.421-25574A>G | ClinVar dbSNP |
| 12 | g.6019508T>G | CA383506270 | VWF | c.3910A>C (p.Met1304Leu) n.421-25574A>C | |
| 12 | g.6019508T= | CA2013873020 | VWF | c.3910A= (p.Met1304=) n.421-25574A= | |
| 12 | g.6019509C>A | CA383506272 | VWF | c.3909G>T (p.Met1303Ile) n.421-25575G>T |