UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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 | |
| 12 | g.6019509C>G | CA383506274 | VWF | c.3909G>C (p.Met1303Ile) n.421-25575G>C | |
| 12 | g.6019509C>T | CA383506276 | VWF | c.3909G>A (p.Met1303Ile) n.421-25575G>A | COSMIC |
| 12 | g.6019510A= | CA2013873021 | VWF | c.3908T= (p.Met1303=) n.421-25576T= | |
| 12 | g.6019510A>C | CA383506281 | VWF | c.3908T>G (p.Met1303Arg) n.421-25576T>G | |
| 12 | g.6019510A>G | CA383506283 | VWF | c.3908T>C (p.Met1303Thr) n.421-25576T>C | dbSNP gnomAD v4 |
| 12 | g.6019510A>T | CA383506285 | VWF | c.3908T>A (p.Met1303Lys) n.421-25576T>A | |
| 12 | g.6019511T>A | CA383506295 | VWF | c.3907A>T (p.Met1303Leu) n.421-25577A>T | |
| 12 | g.6019511T>C | CA232297774 | VWF | c.3907A>G (p.Met1303Val) n.421-25577A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6019511T>G | CA383506292 | VWF | c.3907A>C (p.Met1303Leu) n.421-25577A>C | dbSNP |
| 12 | g.6019511T= | CA2013873022 | VWF | c.3907A= (p.Met1303=) n.421-25577A= | |
| 12 | g.6019512G>A | CA478502948 | VWF | c.3906C>T (p.Asp1302=) n.421-25578C>T | |
| 12 | g.6019512G>C | CA383506302 | VWF | c.3906C>G (p.Asp1302Glu) n.421-25578C>G | |
| 12 | g.6019512G= | CA2013873023 | VWF | c.3906C= (p.Asp1302=) n.421-25578C= | |
| 12 | g.6019512G>T | CA383506305 | VWF | c.3906C>A (p.Asp1302Glu) n.421-25578C>A | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.6019513T>A | CA383506308 | VWF | c.3905A>T (p.Asp1302Val) n.421-25579A>T | |
| 12 | g.6019513T>C | CA228476 | VWF | c.3905A>G (p.Asp1302Gly) n.421-25579A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.6019513T>G | CA383506315 | VWF | c.3905A>C (p.Asp1302Ala) n.421-25579A>C | |
| 12 | g.6019513T= | CA2013873024 | VWF | c.3905A= (p.Asp1302=) n.421-25579A= | |
| 12 | g.6019514C>A | CA383506336 | VWF | c.3904G>T (p.Asp1302Tyr) n.421-25580G>T | |
| 12 | g.6019514C= | CA2013873025 | VWF | c.3904G= (p.Asp1302=) n.421-25580G= | |
| 12 | g.6019514C>G | CA383506339 | VWF | c.3904G>C (p.Asp1302His) n.421-25580G>C | |
| 12 | g.6019514C>T | CA383506344 | VWF | c.3904G>A (p.Asp1302Asn) n.421-25580G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6019515C>A | CA478502949 | VWF | c.3903G>T (p.Val1301=) n.421-25581G>T | |
| 12 | g.6019515C>G | CA478502950 | VWF | c.3903G>C (p.Val1301=) n.421-25581G>C | |
| 12 | g.6019515C>T | CA478502951 | VWF | c.3903G>A (p.Val1301=) n.421-25581G>A | |
| 12 | g.6019516A>C | CA383506351 | VWF | c.3902T>G (p.Val1301Gly) n.421-25582T>G | |
| 12 | g.6019516A>G | CA383506354 | VWF | c.3902T>C (p.Val1301Ala) n.421-25582T>C | |
| 12 | g.6019516A>T | CA383506356 | VWF | c.3902T>A (p.Val1301Glu) n.421-25582T>A | |
| 12 | g.6019517C>A | CA383506366 | VWF | c.3901G>T (p.Val1301Leu) n.421-25583G>T | |
| 12 | g.6019517C= | CA2013873026 | VWF | c.3901G= (p.Val1301=) n.421-25583G= | |
| 12 | g.6019517C>G | CA383506364 | VWF | c.3901G>C (p.Val1301Leu) n.421-25583G>C | gnomAD v4 |
| 12 | g.6019517C>T | CA383506361 | VWF | c.3901G>A (p.Val1301Met) n.421-25583G>A | ClinVar dbSNP |
| 12 | g.6019518C>A | CA478502953 | VWF | c.3900G>T (p.Val1300=) n.421-25584G>T | |
| 12 | g.6019518C>G | CA478502954 | VWF | c.3900G>C (p.Val1300=) n.421-25584G>C | gnomAD v4 |
| 12 | g.6019518C>T | CA478502955 | VWF | c.3900G>A (p.Val1300=) n.421-25584G>A | |
| 12 | g.6019519A= | CA2013873027 | VWF | c.3899T= (p.Val1300=) n.421-25585T= | |
| 12 | g.6019519A>C | CA383506368 | VWF | c.3899T>G (p.Val1300Gly) n.421-25585T>G | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.6019519A>G | CA383506371 | VWF | c.3899T>C (p.Val1300Ala) n.421-25585T>C | |
| 12 | g.6019519A>T | CA383506373 | VWF | c.3899T>A (p.Val1300Glu) n.421-25585T>A | |
| 12 | g.6019520C>A | CA6402652 | VWF | c.3898G>T (p.Val1300Leu) n.421-25586G>T | dbSNP ExAC |
| 12 | g.6019520C= | CA2013873028 | VWF | c.3898G= (p.Val1300=) n.421-25586G= | |
| 12 | g.6019520C>G | CA383506381 | VWF | c.3898G>C (p.Val1300Leu) n.421-25586G>C | |
| 12 | g.6019520C>T | CA383506383 | VWF | c.3898G>A (p.Val1300Met) n.421-25586G>A | |
| 12 | g.6019520_6019521delinsCA | CA2013873029 | VWF | c.3897_3898delinsTG (p.Phe1299=) n.421-25587_421-25586delinsTG | |
| 12 | g.6019521A>C | CA383506386 | VWF | c.3897T>G (p.Phe1299Leu) n.421-25587T>G | |
| 12 | g.6019521A>G | CA478502959 | VWF | c.3897T>C (p.Phe1299=) n.421-25587T>C | |
| 12 | g.6019521A>T | CA383506387 | VWF | c.3897T>A (p.Phe1299Leu) n.421-25587T>A | |
| 12 | g.6019523del | CA603482918 | VWF | c.3897del (p.Phe1299LeufsTer5) n.421-25587del | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.6019522A>C | CA383506396 | VWF | c.3896T>G (p.Phe1299Cys) n.421-25588T>G | |
| 12 | g.6019522A>G | CA383506403 | VWF | c.3896T>C (p.Phe1299Ser) n.421-25588T>C | gnomAD v4 |
| 12 | g.6019522A>T | CA383506399 | VWF | c.3896T>A (p.Phe1299Tyr) n.421-25588T>A | |
| 12 | g.6019523A>C | CA383506407 | VWF | c.3895T>G (p.Phe1299Val) n.421-25589T>G | |
| 12 | g.6019523A>G | CA383506409 | VWF | c.3895T>C (p.Phe1299Leu) n.421-25589T>C | |
| 12 | g.6019523A>T | CA383506414 | VWF | c.3895T>A (p.Phe1299Ile) n.421-25589T>A | |
| 12 | g.6019524G>A | CA6402653 | VWF | c.3894C>T (p.Ala1298=) n.421-25590C>T | dbSNP ExAC |
| 12 | g.6019524G>C | CA478502962 | VWF | c.3894C>G (p.Ala1298=) n.421-25590C>G | |
| 12 | g.6019524G= | CA2013873030 | VWF | c.3894C= (p.Ala1298=) n.421-25590C= | |
| 12 | g.6019524G>T | CA478502963 | VWF | c.3894C>A (p.Ala1298=) n.421-25590C>A | |
| 12 | g.6019525G>A | CA6402654 | VWF | c.3893C>T (p.Ala1298Val) n.421-25591C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6019525G>C | CA383506428 | VWF | c.3893C>G (p.Ala1298Gly) n.421-25591C>G | |
| 12 | g.6019525G= | CA2013873031 | VWF | c.3893C= (p.Ala1298=) n.421-25591C= | |
| 12 | g.6019525G>T | CA383506425 | VWF | c.3893C>A (p.Ala1298Asp) n.421-25591C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6019526C>A | CA383506435 | VWF | c.3892G>T (p.Ala1298Ser) n.421-25592G>T | |
| 12 | g.6019526C>G | CA383506438 | VWF | c.3892G>C (p.Ala1298Pro) n.421-25592G>C | |
| 12 | g.6019526C>T | CA383506443 | VWF | c.3892G>A (p.Ala1298Thr) n.421-25592G>A | |
| 12 | g.6019527C>A | CA383506451 | VWF | c.3891G>T (p.Lys1297Asn) n.421-25593G>T | |
| 12 | g.6019527C>G | CA383506453 | VWF | c.3891G>C (p.Lys1297Asn) n.421-25593G>C | |
| 12 | g.6019527C>T | CA478502965 | VWF | c.3891G>A (p.Lys1297=) n.421-25593G>A | dbSNP |
| 12 | g.6019528T>A | CA383506457 | VWF | c.3890A>T (p.Lys1297Met) n.421-25594A>T n.688A>T | |
| 12 | g.6019528T>C | CA383506460 | VWF | c.3890A>G (p.Lys1297Arg) n.421-25594A>G n.688A>G | |
| 12 | g.6019528T>G | CA383506463 | VWF | c.3890A>C (p.Lys1297Thr) n.421-25594A>C n.688A>C | |
| 12 | g.6019529T>A | CA383506472 | VWF | c.3889A>T (p.Lys1297Ter) n.421-25595A>T n.687A>T | |
| 12 | g.6019529T>C | CA383506475 | VWF | c.3889A>G (p.Lys1297Glu) n.421-25595A>G n.687A>G | |
| 12 | g.6019529T>G | CA383506479 | VWF | c.3889A>C (p.Lys1297Gln) n.421-25595A>C n.687A>C | |
| 12 | g.6019530C>A | CA478502969 | VWF | c.3888G>T (p.Leu1296=) n.421-25596G>T n.686G>T | |
| 12 | g.6019530C>G | CA478502970 | VWF | c.3888G>C (p.Leu1296=) n.421-25596G>C n.686G>C | |
| 12 | g.6019530C>T | CA478502971 | VWF | c.3888G>A (p.Leu1296=) n.421-25596G>A n.686G>A | |
| 12 | g.6019531A= | CA2013873032 | VWF | c.3887T= (p.Leu1296=) n.421-25597T= n.685T= | |
| 12 | g.6019531A>C | CA383506483 | VWF | c.3887T>G (p.Leu1296Arg) n.421-25597T>G n.685T>G | |
| 12 | g.6019531A>G | CA228474 | VWF | c.3887T>C (p.Leu1296Pro) n.421-25597T>C n.685T>C | ClinVar dbSNP |
| 12 | g.6019531A>T | CA383506485 | VWF | c.3887T>A (p.Leu1296Gln) n.421-25597T>A n.685T>A | |
| 12 | g.6019532G>A | CA478502972 | VWF | c.3886C>T (p.Leu1296=) n.421-25598C>T n.684C>T | |
| 12 | g.6019532G>C | CA383506488 | VWF | c.3886C>G (p.Leu1296Val) n.421-25598C>G n.684C>G | |
| 12 | g.6019532G>T | CA383506489 | VWF | c.3886C>A (p.Leu1296Met) n.421-25598C>A n.684C>A | |
| 12 | g.6019533C>A | CA478502973 | VWF | c.3885G>T (p.Val1295=) n.421-25599G>T n.683G>T | |
| 12 | g.6019533C>G | CA478502976 | VWF | c.3885G>C (p.Val1295=) n.421-25599G>C n.683G>C | |
| 12 | g.6019533C>T | CA478502974 | VWF | c.3885G>A (p.Val1295=) n.421-25599G>A n.683G>A | |
| 12 | g.6019534A= | CA2013873033 | VWF | c.3884T= (p.Val1295=) n.421-25600T= n.682T= | |
| 12 | g.6019534A>C | CA383506490 | VWF | c.3884T>G (p.Val1295Gly) n.421-25600T>G n.682T>G | |
| 12 | g.6019534A>G | CA6402655 | VWF | c.3884T>C (p.Val1295Ala) n.421-25600T>C n.682T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.6019534A>T | CA383506493 | VWF | c.3884T>A (p.Val1295Glu) n.421-25600T>A n.682T>A | |
| 12 | g.6019535C>A | CA383506496 | VWF | c.3883G>T (p.Val1295Leu) n.421-25601G>T n.681G>T | |
| 12 | g.6019535C>G | CA383506497 | VWF | c.3883G>C (p.Val1295Leu) n.421-25601G>C n.681G>C | |
| 12 | g.6019535C>T | CA383506498 | VWF | c.3883G>A (p.Val1295Met) n.421-25601G>A n.681G>A | gnomAD v4 |
| 12 | g.6019536T>A | CA383506501 | VWF | c.3882A>T (p.Glu1294Asp) n.421-25602A>T n.680A>T | |
| 12 | g.6019536T>C | CA478502977 | VWF | c.3882A>G (p.Glu1294=) n.421-25602A>G n.680A>G | |
| 12 | g.6019536T>G | CA383506515 | VWF | c.3882A>C (p.Glu1294Asp) n.421-25602A>C n.680A>C | |
| 12 | g.6019537T>A | CA383506518 | VWF | c.3881A>T (p.Glu1294Val) n.421-25603A>T n.679A>T | |
| 12 | g.6019537T>C | CA383506520 | VWF | c.3881A>G (p.Glu1294Gly) n.421-25603A>G n.679A>G | |
| 12 | g.6019537T>G | CA383506522 | VWF | c.3881A>C (p.Glu1294Ala) n.421-25603A>C n.679A>C | |
| 12 | g.6019538C>A | CA383506527 | VWF | c.3880G>T (p.Glu1294Ter) n.421-25604G>T n.678G>T | |
| 12 | g.6019538C>G | CA383506533 | VWF | c.3880G>C (p.Glu1294Gln) n.421-25604G>C n.678G>C | |
| 12 | g.6019538C>T | CA383506529 | VWF | c.3880G>A (p.Glu1294Lys) n.421-25604G>A n.678G>A | |
| 12 | g.6019539A>C | CA383506537 | VWF | c.3879T>G (p.Phe1293Leu) n.421-25605T>G n.677T>G | |
| 12 | g.6019539A>G | CA478502981 | VWF | c.3879T>C (p.Phe1293=) n.421-25605T>C n.677T>C | COSMIC |
| 12 | g.6019539A>T | CA383506541 | VWF | c.3879T>A (p.Phe1293Leu) n.421-25605T>A n.677T>A | |
| 12 | g.6019540A>C | CA383506546 | VWF | c.3878T>G (p.Phe1293Cys) n.421-25606T>G n.676T>G | |
| 12 | g.6019540A>G | CA383506550 | VWF | c.3878T>C (p.Phe1293Ser) n.421-25606T>C n.676T>C | |
| 12 | g.6019540A>T | CA383506556 | VWF | c.3878T>A (p.Phe1293Tyr) n.421-25606T>A n.676T>A | |
| 12 | g.6019541A= | CA2013873034 | VWF | c.3877T= (p.Phe1293=) n.421-25607T= n.675T= | |
| 12 | g.6019541A>C | CA383506569 | VWF | c.3877T>G (p.Phe1293Val) n.421-25607T>G n.675T>G | |
| 12 | g.6019541A>G | CA228472 | VWF | c.3877T>C (p.Phe1293Leu) n.421-25607T>C n.675T>C | ClinVar dbSNP |
| 12 | g.6019541A>T | CA383506576 | VWF | c.3877T>A (p.Phe1293Ile) n.421-25607T>A n.675T>A | |
| 12 | g.6019542C>A | CA383506580 | VWF | c.3876G>T (p.Glu1292Asp) n.421-25608G>T n.674G>T | |
| 12 | g.6019542C>G | CA383506584 | VWF | c.3876G>C (p.Glu1292Asp) n.421-25608G>C n.674G>C | |
| 12 | g.6019542C>T | CA478502982 | VWF | c.3876G>A (p.Glu1292=) n.421-25608G>A n.674G>A | |
| 12 | g.6019543T>A | CA383506590 | VWF | c.3875A>T (p.Glu1292Val) n.421-25609A>T n.673A>T | |
| 12 | g.6019543T>C | CA383506586 | VWF | c.3875A>G (p.Glu1292Gly) n.421-25609A>G n.673A>G | |
| 12 | g.6019543T>G | CA383506585 | VWF | c.3875A>C (p.Glu1292Ala) n.421-25609A>C n.673A>C | |
| 12 | g.6019544C>A | CA383506594 | VWF | c.3874G>T (p.Glu1292Ter) n.421-25610G>T n.672G>T | |
| 12 | g.6019544C>G | CA383506602 | VWF | c.3874G>C (p.Glu1292Gln) n.421-25610G>C n.672G>C | |
| 12 | g.6019544C>T | CA383506598 | VWF | c.3874G>A (p.Glu1292Lys) n.421-25610G>A n.672G>A | |
| 12 | g.6019545A>C | CA478502986 | VWF | c.3873T>G (p.Ala1291=) n.421-25611T>G n.671T>G | |
| 12 | g.6019545A>G | CA478502987 | VWF | c.3873T>C (p.Ala1291=) n.421-25611T>C n.671T>C | |
| 12 | g.6019545A>T | CA478502988 | VWF | c.3873T>A (p.Ala1291=) n.421-25611T>A n.671T>A | |
| 12 | g.6019546G>A | CA383506608 | VWF | c.3872C>T (p.Ala1291Val) n.421-25612C>T n.670C>T | |
| 12 | g.6019546G>C | CA383506615 | VWF | c.3872C>G (p.Ala1291Gly) n.421-25612C>G n.670C>G | gnomAD v4 |
| 12 | g.6019546G>T | CA383506630 | VWF | c.3872C>A (p.Ala1291Asp) n.421-25612C>A n.670C>A | |
| 12 | g.6019547C>A | CA383506635 | VWF | c.3871G>T (p.Ala1291Ser) n.421-25613G>T n.669G>T | |
| 12 | g.6019547C>G | CA383506637 | VWF | c.3871G>C (p.Ala1291Pro) n.421-25613G>C n.669G>C | |
| 12 | g.6019547C>T | CA383506643 | VWF | c.3871G>A (p.Ala1291Thr) n.421-25613G>A n.669G>A | gnomAD v4 |
| 12 | g.6019548C>A | CA383506647 | VWF | c.3870G>T (p.Glu1290Asp) n.421-25614G>T n.668G>T | |
| 12 | g.6019548C>G | CA383506659 | VWF | c.3870G>C (p.Glu1290Asp) n.421-25614G>C n.668G>C | |
| 12 | g.6019548C>T | CA478502990 | VWF | c.3870G>A (p.Glu1290=) n.421-25614G>A n.668G>A | |
| 12 | g.6019549T>A | CA383506669 | VWF | c.3869A>T (p.Glu1290Val) n.421-25615A>T n.667A>T | |
| 12 | g.6019549T>C | CA383506672 | VWF | c.3869A>G (p.Glu1290Gly) n.421-25615A>G n.667A>G | |
| 12 | g.6019549T>G | CA383506676 | VWF | c.3869A>C (p.Glu1290Ala) n.421-25615A>C n.667A>C | |
| 12 | g.6019550C>A | CA383506679 | VWF | c.3868G>T (p.Glu1290Ter) n.421-25616G>T n.666G>T | |
| 12 | g.6019550C= | CA2013873035 | VWF | c.3868G= (p.Glu1290=) n.421-25616G= n.666G= | |
| 12 | g.6019550C>G | CA383506686 | VWF | c.3868G>C (p.Glu1290Gln) n.421-25616G>C n.666G>C | |
| 12 | g.6019550C>T | CA6402656 | VWF | c.3868G>A (p.Glu1290Lys) n.421-25616G>A n.666G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6019551G>A | CA6402657 | VWF | c.3867C>T (p.Ser1289=) n.421-25617C>T n.665C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6019551G>C | CA478502991 | VWF | c.3867C>G (p.Ser1289=) n.421-25617C>G n.665C>G | |
| 12 | g.6019551G= | CA2013873036 | VWF | c.3867C= (p.Ser1289=) n.421-25617C= n.665C= | |
| 12 | g.6019551G>T | CA478502992 | VWF | c.3867C>A (p.Ser1289=) n.421-25617C>A n.665C>A | |
| 12 | g.6019552G>A | CA383506696 | VWF | c.3866C>T (p.Ser1289Phe) n.421-25618C>T n.664C>T | |
| 12 | g.6019552G>C | CA383506697 | VWF | c.3866C>G (p.Ser1289Cys) n.421-25618C>G n.664C>G | |
| 12 | g.6019552G>T | CA383506698 | VWF | c.3866C>A (p.Ser1289Tyr) n.421-25618C>A n.664C>A | |
| 12 | g.6019553A= | CA2013873037 | VWF | c.3865T= (p.Ser1289=) n.421-25619T= n.663T= | |
| 12 | g.6019553A>C | CA383506699 | VWF | c.3865T>G (p.Ser1289Ala) n.421-25619T>G n.663T>G | |
| 12 | g.6019553A>G | CA383506703 | VWF | c.3865T>C (p.Ser1289Pro) n.421-25619T>C n.663T>C | |
| 12 | g.6019553A>T | CA383506704 | VWF | c.3865T>A (p.Ser1289Thr) n.421-25619T>A n.663T>A | dbSNP |
| 12 | g.6019554C>A | CA6402658 | VWF | c.3864G>T (p.Leu1288=) n.421-25620G>T n.662G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.6019554C= | CA2013873038 | VWF | c.3864G= (p.Leu1288=) n.421-25620G= n.662G= | |
| 12 | g.6019554C>G | CA478502994 | VWF | c.3864G>C (p.Leu1288=) n.421-25620G>C n.662G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6019554C>T | CA478502995 | VWF | c.3864G>A (p.Leu1288=) n.421-25620G>A n.662G>A | |
| 12 | g.6019555A= | CA2013873039 | VWF | c.3863T= (p.Leu1288=) n.421-25621T= n.661T= | |
| 12 | g.6019555A>C | CA228470 | VWF | c.3863T>G (p.Leu1288Arg) n.421-25621T>G n.661T>G | ClinVar dbSNP |
| 12 | g.6019555A>G | CA383506708 | VWF | c.3863T>C (p.Leu1288Pro) n.421-25621T>C n.661T>C | |
| 12 | g.6019555A>T | CA383506711 | VWF | c.3863T>A (p.Leu1288Gln) n.421-25621T>A n.661T>A | |
| 12 | g.6019556G>A | CA6402659 | VWF | c.3862C>T (p.Leu1288=) n.421-25622C>T n.660C>T | dbSNP ExAC |
| 12 | g.6019556G>C | CA383506714 | VWF | c.3862C>G (p.Leu1288Val) n.421-25622C>G n.660C>G | gnomAD v4 |
| 12 | g.6019556G= | CA2013873040 | VWF | c.3862C= (p.Leu1288=) n.421-25622C= n.660C= | |
| 12 | g.6019556G>T | CA383506718 | VWF | c.3862C>A (p.Leu1288Met) n.421-25622C>A n.660C>A | |
| 12 | g.6019557C>A | CA383506726 | VWF | c.3861G>T (p.Arg1287Ser) n.421-25623G>T n.659G>T | gnomAD v4 |
| 12 | g.6019557C= | CA2013873041 | VWF | c.3861G= (p.Arg1287=) n.421-25623G= n.659G= | |
| 12 | g.6019557C>G | CA383506729 | VWF | c.3861G>C (p.Arg1287Ser) n.421-25623G>C n.659G>C | |
| 12 | g.6019557C>T | CA232297775 | VWF | c.3861G>A (p.Arg1287=) n.421-25623G>A n.659G>A | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.6019558C>A | CA383506730 | VWF | c.3860G>T (p.Arg1287Met) n.421-25624G>T n.658G>T | |
| 12 | g.6019558C>G | CA383506732 | VWF | c.3860G>C (p.Arg1287Thr) n.421-25624G>C n.658G>C | |
| 12 | g.6019558C>T | CA383506733 | VWF | c.3860G>A (p.Arg1287Lys) n.421-25624G>A n.658G>A | |
| 12 | g.6019559T>A | CA383506735 | VWF | c.3859A>T (p.Arg1287Trp) n.421-25625A>T n.657A>T | |
| 12 | g.6019559T>C | CA383506740 | VWF | c.3859A>G (p.Arg1287Gly) n.421-25625A>G n.657A>G | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.6019559T>G | CA478502997 | VWF | c.3859A>C (p.Arg1287=) n.421-25625A>C n.657A>C | |
| 12 | g.6019559T= | CA2013873042 | VWF | c.3859A= (p.Arg1287=) n.421-25625A= n.657A= | |
| 12 | g.6019560G>A | CA478502998 | VWF | c.3858C>T (p.Ser1286=) n.421-25626C>T n.656C>T | |
| 12 | g.6019560G>C | CA478502999 | VWF | c.3858C>G (p.Ser1286=) n.421-25626C>G n.656C>G | |
| 12 | g.6019560G>T | CA478503000 | VWF | c.3858C>A (p.Ser1286=) n.421-25626C>A n.656C>A | |
| 12 | g.6019561G>A | CA383506742 | VWF | c.3857C>T (p.Ser1286Phe) n.421-25627C>T n.655C>T | |
| 12 | g.6019561G>C | CA383506743 | VWF | c.3857C>G (p.Ser1286Cys) n.421-25627C>G n.655C>G | |
| 12 | g.6019561G>T | CA383506744 | VWF | c.3857C>A (p.Ser1286Tyr) n.421-25627C>A n.655C>A | |
| 12 | g.6019562A>C | CA383506747 | VWF | c.3856T>G (p.Ser1286Ala) n.421-25628T>G n.654T>G | |
| 12 | g.6019562A>G | CA383506750 | VWF | c.3856T>C (p.Ser1286Pro) n.421-25628T>C n.654T>C | |
| 12 | g.6019562A>T | CA383506751 | VWF | c.3856T>A (p.Ser1286Thr) n.421-25628T>A n.654T>A | |
| 12 | g.6019563G>A | CA478503002 | VWF | c.3855C>T (p.Ser1285=) n.421-25629C>T n.653C>T | |
| 12 | g.6019563G>C | CA478503004 | VWF | c.3855C>G (p.Ser1285=) n.421-25629C>G n.653C>G | |
| 12 | g.6019563G>T | CA478503003 | VWF | c.3855C>A (p.Ser1285=) n.421-25629C>A n.653C>A | |
| 12 | g.6019564G>A | CA114164 | VWF | c.3854C>T (p.Ser1285Phe) n.421-25630C>T n.652C>T | ClinVar dbSNP |
| 12 | g.6019564G>C | CA383506757 | VWF | c.3854C>G (p.Ser1285Cys) n.421-25630C>G n.652C>G | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.6019564G= | CA2013873043 | VWF | c.3854C= (p.Ser1285=) n.421-25630C= n.652C= | |
| 12 | g.6019564G>T | CA383506760 | VWF | c.3854C>A (p.Ser1285Tyr) n.421-25630C>A n.652C>A | |
| 12 | g.6019565A= | CA2013873044 | VWF | c.3853T= (p.Ser1285=) n.421-25631T= n.651T= | |
| 12 | g.6019565A>C | CA383506765 | VWF | c.3853T>G (p.Ser1285Ala) n.421-25631T>G n.651T>G | |
| 12 | g.6019565A>G | CA228466 | VWF | c.3853T>C (p.Ser1285Pro) n.421-25631T>C n.651T>C | ClinVar dbSNP |
| 12 | g.6019565A>T | CA383506772 | VWF | c.3853T>A (p.Ser1285Thr) n.421-25631T>A n.651T>A | |
| 12 | g.6019566G>A | CA478503005 | VWF | c.3852C>T (p.Gly1284=) n.421-25632C>T n.650C>T | |
| 12 | g.6019566G>C | CA478503006 | VWF | c.3852C>G (p.Gly1284=) n.421-25632C>G n.650C>G | |
| 12 | g.6019566G>T | CA478503007 | VWF | c.3852C>A (p.Gly1284=) n.421-25632C>A n.650C>A | |
| 12 | g.6019567C>A | CA383506776 | VWF | c.3851G>T (p.Gly1284Val) n.421-25633G>T n.649G>T | |
| 12 | g.6019567C>G | CA383506780 | VWF | c.3851G>C (p.Gly1284Ala) n.421-25633G>C n.649G>C | |
| 12 | g.6019567C>T | CA383506782 | VWF | c.3851G>A (p.Gly1284Asp) n.421-25633G>A n.649G>A | |
| 12 | g.6019568C>A | CA383506786 | VWF | c.3850G>T (p.Gly1284Cys) n.421-25634G>T n.648G>T | |
| 12 | g.6019568C>G | CA383506788 | VWF | c.3850G>C (p.Gly1284Arg) n.421-25634G>C n.648G>C | |
| 12 | g.6019568C>T | CA383506792 | VWF | c.3850G>A (p.Gly1284Ser) n.421-25634G>A n.648G>A | |
| 12 | g.6019569A>C | CA383506795 | VWF | c.3849T>G (p.Asp1283Glu) n.421-25635T>G n.647T>G | |
| 12 | g.6019569A>G | CA478503008 | VWF | c.3849T>C (p.Asp1283=) n.421-25635T>C n.647T>C | |
| 12 | g.6019569A>T | CA383506797 | VWF | c.3849T>A (p.Asp1283Glu) n.421-25635T>A n.647T>A | |
| 12 | g.6019570_6019580del | CA944318953 | VWF | c.3839_3849del (p.Phe1280TrpfsTer9) n.421-25645_421-25635del n.637_647del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.6019570T>A | CA383506804 | VWF | c.3848A>T (p.Asp1283Val) n.421-25636A>T n.646A>T | |
| 12 | g.6019570T>C | CA383506807 | VWF | c.3848A>G (p.Asp1283Gly) n.421-25636A>G n.646A>G | |
| 12 | g.6019570T>G | CA383506801 | VWF | c.3848A>C (p.Asp1283Ala) n.421-25636A>C n.646A>C | |
| 12 | g.6019571C>A | CA383506819 | VWF | c.3847G>T (p.Asp1283Tyr) n.421-25637G>T n.645G>T | dbSNP |
| 12 | g.6019571C= | CA2013873045 | VWF | c.3847G= (p.Asp1283=) n.421-25637G= n.645G= | |
| 12 | g.6019571C>G | CA383506813 | VWF | c.3847G>C (p.Asp1283His) n.421-25637G>C n.645G>C | ClinVar dbSNP |
| 12 | g.6019571C>T | CA383506815 | VWF | c.3847G>A (p.Asp1283Asn) n.421-25637G>A n.645G>A | |
| 12 | g.6019572C>A | CA478503009 | VWF | c.3846G>T (p.Leu1282=) n.421-25638G>T n.644G>T | |
| 12 | g.6019572C= | CA2013873046 | VWF | c.3846G= (p.Leu1282=) n.421-25638G= n.644G= | |
| 12 | g.6019572C>G | CA478503010 | VWF | c.3846G>C (p.Leu1282=) n.421-25638G>C n.644G>C | |
| 12 | g.6019572C>T | CA478503011 | VWF | c.3846G>A (p.Leu1282=) n.421-25638G>A n.644G>A | |
| 12 | g.6019573A= | CA2013873047 | VWF | c.3845T= (p.Leu1282=) n.421-25639T= n.643T= | |
| 12 | g.6019573A>C | CA228464 | VWF | c.3845T>G (p.Leu1282Arg) n.421-25639T>G n.643T>G | ClinVar dbSNP |
| 12 | g.6019573A>G | CA383506833 | VWF | c.3845T>C (p.Leu1282Pro) n.421-25639T>C n.643T>C | ClinVar dbSNP |
| 12 | g.6019573A>T | CA383506835 | VWF | c.3845T>A (p.Leu1282Gln) n.421-25639T>A n.643T>A | |
| 12 | g.6019575_6019581dup | CA228463 | VWF | c.3839_3845dup (p.Asp1283ProfsTer12) n.421-25645_421-25639dup n.637_643dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6019574G>A | CA478503012 | VWF | c.3844C>T (p.Leu1282=) n.421-25640C>T n.642C>T | gnomAD v4 |
| 12 | g.6019574G>C | CA383506841 | VWF | c.3844C>G (p.Leu1282Val) n.421-25640C>G n.642C>G | |
| 12 | g.6019574G>T | CA383506843 | VWF | c.3844C>A (p.Leu1282Met) n.421-25640C>A n.642C>A | |
| 12 | g.6019575C>A | CA6402660 | VWF | c.3843G>T (p.Leu1281=) n.421-25641G>T n.641G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6019575C= | CA2013873048 | VWF | c.3843G= (p.Leu1281=) n.421-25641G= n.641G= | |
| 12 | g.6019575C>G | CA478503013 | VWF | c.3843G>C (p.Leu1281=) n.421-25641G>C n.641G>C | |
| 12 | g.6019575C>T | CA478503014 | VWF | c.3843G>A (p.Leu1281=) n.421-25641G>A n.641G>A | |
| 12 | g.6019576A= | CA2013873049 | VWF | c.3842T= (p.Leu1281=) n.421-25642T= n.640T= | |
| 12 | g.6019576A>C | CA383506849 | VWF | c.3842T>G (p.Leu1281Arg) n.421-25642T>G n.640T>G | ClinVar dbSNP |
| 12 | g.6019576A>G | CA383506852 | VWF | c.3842T>C (p.Leu1281Pro) n.421-25642T>C n.640T>C | ClinVar dbSNP |
| 12 | g.6019576A>T | CA383506854 | VWF | c.3842T>A (p.Leu1281Gln) n.421-25642T>A n.640T>A | |
| 12 | g.6019577G>A | CA478503015 | VWF | c.3841C>T (p.Leu1281=) n.421-25643C>T n.639C>T | |
| 12 | g.6019577G>C | CA383506858 | VWF | c.3841C>G (p.Leu1281Val) n.421-25643C>G n.639C>G | |
| 12 | g.6019577G>T | CA383506861 | VWF | c.3841C>A (p.Leu1281Met) n.421-25643C>A n.639C>A | |
| 12 | g.6019578del | CA2575053893 | VWF | c.3841del (p.Leu1281CysfsTer16) n.421-25643del n.639del | gnomAD v4 |
| 12 | g.6019578G>A | CA478503016 | VWF | c.3840C>T (p.Phe1280=) n.421-25644C>T n.638C>T | |
| 12 | g.6019578G>C | CA383506865 | VWF | c.3840C>G (p.Phe1280Leu) n.421-25644C>G n.638C>G | |
| 12 | g.6019578G>T | CA383506868 | VWF | c.3840C>A (p.Phe1280Leu) n.421-25644C>A n.638C>A | COSMIC |
| 12 | g.6019579A>C | CA383506872 | VWF | c.3839T>G (p.Phe1280Cys) n.421-25645T>G n.637T>G | |
| 12 | g.6019579A>G | CA383506874 | VWF | c.3839T>C (p.Phe1280Ser) n.421-25645T>C n.637T>C | |
| 12 | g.6019579A>T | CA383506877 | VWF | c.3839T>A (p.Phe1280Tyr) n.421-25645T>A n.637T>A | |
| 12 | g.6019580A= | CA2013873050 | VWF | c.3838T= (p.Phe1280=) n.421-25646T= n.636T= | |
| 12 | g.6019580A>C | CA383506880 | VWF | c.3838T>G (p.Phe1280Val) n.421-25646T>G n.636T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6019580A>G | CA383506881 | VWF | c.3838T>C (p.Phe1280Leu) n.421-25646T>C n.636T>C | |
| 12 | g.6019580A>T | CA383506883 | VWF | c.3838T>A (p.Phe1280Ile) n.421-25646T>A n.636T>A | |
| 12 | g.6019581G>A | CA6402661 | VWF | c.3837C>T (p.Val1279=) n.421-25647C>T n.635C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6019581G>C | CA478503018 | VWF | c.3837C>G (p.Val1279=) n.421-25647C>G n.635C>G | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.6019581G= | CA2013873051 | VWF | c.3837C= (p.Val1279=) n.421-25647C= n.635C= | |
| 12 | g.6019581G>T | CA478503019 | VWF | c.3837C>A (p.Val1279=) n.421-25647C>A n.635C>A | |
| 12 | g.6019582A>C | CA383506887 | VWF | c.3836T>G (p.Val1279Gly) n.421-25648T>G n.634T>G | |
| 12 | g.6019582A>G | CA383506889 | VWF | c.3836T>C (p.Val1279Ala) n.421-25648T>C n.634T>C | |
| 12 | g.6019582A>T | CA383506891 | VWF | c.3836T>A (p.Val1279Asp) n.421-25648T>A n.634T>A | |
| 12 | g.6019583C>A | CA228461 | VWF | c.3835G>T (p.Val1279Phe) n.421-25649G>T n.633G>T | ClinVar dbSNP |
| 12 | g.6019583C= | CA2013873052 | VWF | c.3835G= (p.Val1279=) n.421-25649G= n.633G= | |
| 12 | g.6019583C>G | CA383506895 | VWF | c.3835G>C (p.Val1279Leu) n.421-25649G>C n.633G>C | |
| 12 | g.6019583C>T | CA228459 | VWF | c.3835G>A (p.Val1279Ile) n.421-25649G>A n.633G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6019584C>A | CA478503025 | VWF | c.3834G>T (p.Leu1278=) n.421-25650G>T n.632G>T | |
| 12 | g.6019584C>G | CA478503024 | VWF | c.3834G>C (p.Leu1278=) n.421-25650G>C n.632G>C | |
| 12 | g.6019584C>T | CA478503023 | VWF | c.3834G>A (p.Leu1278=) n.421-25650G>A n.632G>A | |
| 12 | g.6019584_6019587delinsCAGG | CA2013873053 | VWF | c.3831_3834delinsCCTG (p.Asp1277=) n.421-25653_421-25650delinsCCTG n.629_632delinsCCTG | |
| 12 | g.6019585A>C | CA383506896 | VWF | c.3833T>G (p.Leu1278Arg) n.421-25651T>G n.631T>G | |
| 12 | g.6019585A>G | CA383506897 | VWF | c.3833T>C (p.Leu1278Pro) n.421-25651T>C n.631T>C | ClinVar dbSNP |
| 12 | g.6019585A>T | CA383506898 | VWF | c.3833T>A (p.Leu1278Gln) n.421-25651T>A n.631T>A | |
| 12 | g.6019585_6019587del | CA228457 | VWF | c.3831_3833del (p.Asp1277_Leu1278delinsGlu) n.421-25653_421-25651del n.629_631del | ClinVar dbSNP |
| 12 | g.6019586G>A | CA478503028 | VWF | c.3832C>T (p.Leu1278=) n.421-25652C>T n.630C>T | |
| 12 | g.6019586G>C | CA383506901 | VWF | c.3832C>G (p.Leu1278Val) n.421-25652C>G n.630C>G | |
| 12 | g.6019586G>T | CA383506904 | VWF | c.3832C>A (p.Leu1278Met) n.421-25652C>A n.630C>A | |
| 12 | g.6019587G>A | CA478503029 | VWF | c.3831C>T (p.Asp1277=) n.421-25653C>T n.629C>T | |
| 12 | g.6019587G>C | CA383506908 | VWF | c.3831C>G (p.Asp1277Glu) n.421-25653C>G n.629C>G | |
| 12 | g.6019587G>T | CA383506907 | VWF | c.3831C>A (p.Asp1277Glu) n.421-25653C>A n.629C>A | |
| 12 | g.6019588T>A | CA383506910 | VWF | c.3830A>T (p.Asp1277Val) n.421-25654A>T n.628A>T | ClinVar |
| 12 | g.6019588T>C | CA383506912 | VWF | c.3830A>G (p.Asp1277Gly) n.421-25654A>G n.628A>G | |
| 12 | g.6019588T>G | CA383506913 | VWF | c.3830A>C (p.Asp1277Ala) n.421-25654A>C n.628A>C | |
| 12 | g.6019589C>A | CA383506920 | VWF | c.3829G>T (p.Asp1277Tyr) n.421-25655G>T n.627G>T | |
| 12 | g.6019589C>G | CA383506922 | VWF | c.3829G>C (p.Asp1277His) n.421-25655G>C n.627G>C | |
| 12 | g.6019589C>T | CA383506924 | VWF | c.3829G>A (p.Asp1277Asn) n.421-25655G>A n.627G>A | |
| 12 | g.6019590C>A | CA478503033 | VWF | c.3828G>T (p.Leu1276=) n.421-25656G>T n.626G>T | |
| 12 | g.6019590C>G | CA478503034 | VWF | c.3828G>C (p.Leu1276=) n.421-25656G>C n.626G>C | |
| 12 | g.6019590C>T | CA478503035 | VWF | c.3828G>A (p.Leu1276=) n.421-25656G>A n.626G>A | |
| 12 | g.6019591A= | CA2013873054 | VWF | c.3827T= (p.Leu1276=) n.421-25657T= n.625T= | |
| 12 | g.6019591A>C | CA383506926 | VWF | c.3827T>G (p.Leu1276Arg) n.421-25657T>G n.625T>G | |
| 12 | g.6019591A>G | CA228455 | VWF | c.3827T>C (p.Leu1276Pro) n.421-25657T>C n.625T>C | ClinVar dbSNP |
| 12 | g.6019591A>T | CA383506929 | VWF | c.3827T>A (p.Leu1276Gln) n.421-25657T>A n.625T>A | |
| 12 | g.6019592G>A | CA478503036 | VWF | c.3826C>T (p.Leu1276=) n.421-25658C>T n.624C>T | |
| 12 | g.6019592G>C | CA383506933 | VWF | c.3826C>G (p.Leu1276Val) n.421-25658C>G n.624C>G | |
| 12 | g.6019592G>T | CA383506935 | VWF | c.3826C>A (p.Leu1276Met) n.421-25658C>A n.624C>A | |
| 12 | g.6019593T>A | CA478503037 | VWF | c.3825A>T (p.Leu1275=) n.421-25659A>T n.623A>T | gnomAD v4 |
| 12 | g.6019593T>C | CA6402662 | VWF | c.3825A>G (p.Leu1275=) n.421-25659A>G n.623A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.6019593T>G | CA478503038 | VWF | c.3825A>C (p.Leu1275=) n.421-25659A>C n.623A>C | |
| 12 | g.6019593T= | CA2013873055 | VWF | c.3825A= (p.Leu1275=) n.421-25659A= n.623A= | |
| 12 | g.6019594A>C | CA383506943 | VWF | c.3824T>G (p.Leu1275Arg) n.421-25660T>G n.622T>G | |
| 12 | g.6019594A>G | CA383506945 | VWF | c.3824T>C (p.Leu1275Pro) n.421-25660T>C n.622T>C | |
| 12 | g.6019594A>T | CA383506947 | VWF | c.3824T>A (p.Leu1275Gln) n.421-25660T>A n.622T>A | |
| 12 | g.6019595G>A | CA478503040 | VWF | c.3823C>T (p.Leu1275=) n.421-25661C>T n.621C>T | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.6019595G>C | CA383506950 | VWF | c.3823C>G (p.Leu1275Val) n.421-25661C>G n.621C>G | |
| 12 | g.6019595G= | CA2013873056 | VWF | c.3823C= (p.Leu1275=) n.421-25661C= n.621C= | |
| 12 | g.6019595G>T | CA6402663 | VWF | c.3823C>A (p.Leu1275Ile) n.421-25661C>A n.621C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.6019596C>A | CA383506952 | VWF | c.3822G>T (p.Arg1274Ser) n.421-25662G>T n.620G>T | |
| 12 | g.6019596C= | CA2013873057 | VWF | c.3822G= (p.Arg1274=) n.421-25662G= n.620G= | |
| 12 | g.6019596C>G | CA383506955 | VWF | c.3822G>C (p.Arg1274Ser) n.421-25662G>C n.620G>C | |
| 12 | g.6019596C>T | CA478503042 | VWF | c.3822G>A (p.Arg1274=) n.421-25662G>A n.620G>A | dbSNP COSMIC |