Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.6021915T>A | CA383510384 | VWF | c.3659A>T (p.Glu1220Val) n.421-27981A>T n.12A>T | |
12 | g.6021915T>C | CA383510383 | VWF | c.3659A>G (p.Glu1220Gly) n.421-27981A>G n.12A>G | |
12 | g.6021915T>G | CA383510381 | VWF | c.3659A>C (p.Glu1220Ala) n.421-27981A>C n.12A>C | |
12 | g.6021916C>A | CA383510385 | VWF | c.3658G>T (p.Glu1220Ter) n.421-27982G>T n.11G>T | |
12 | g.6021916C>G | CA383510386 | VWF | c.3658G>C (p.Glu1220Gln) n.421-27982G>C n.11G>C | |
12 | g.6021916C>T | CA383510388 | VWF | c.3658G>A (p.Glu1220Lys) n.421-27982G>A n.11G>A | |
12 | g.6021917A>C | CA478101218 | VWF | c.3657T>G (p.Pro1219=) n.421-27983T>G n.10T>G | |
12 | g.6021917A>G | CA478101219 | VWF | c.3657T>C (p.Pro1219=) n.421-27983T>C n.10T>C | |
12 | g.6021917A>T | CA478101220 | VWF | c.3657T>A (p.Pro1219=) n.421-27983T>A n.10T>A | |
12 | g.6021918G>A | CA383510390 | VWF | c.3656C>T (p.Pro1219Leu) n.421-27984C>T n.9C>T | |
12 | g.6021918G>C | CA383510391 | VWF | c.3656C>G (p.Pro1219Arg) n.421-27984C>G n.9C>G | gnomAD v4 |
12 | g.6021918G>T | CA383510393 | VWF | c.3656C>A (p.Pro1219His) n.421-27984C>A n.9C>A | |
12 | g.6021920del | CA2573334439 | VWF | c.3656del (p.Pro1219LeufsTer?) n.421-27984del n.9del | |
12 | g.6021919G>A | CA383510396 | VWF | c.3655C>T (p.Pro1219Ser) n.421-27985C>T n.8C>T | gnomAD v4 |
12 | g.6021919G>C | CA383510397 | VWF | c.3655C>G (p.Pro1219Ala) n.421-27985C>G n.8C>G | |
12 | g.6021919G>T | CA383510399 | VWF | c.3655C>A (p.Pro1219Thr) n.421-27985C>A n.8C>A | |
12 | g.6021920G>A | CA478101221 | VWF | c.3654C>T (p.Asp1218=) n.421-27986C>T n.7C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6021920G>C | CA6402721 | VWF | c.3654C>G (p.Asp1218Glu) n.421-27986C>G n.7C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6021920G= | CA2013874082 | VWF | c.3654C= (p.Asp1218=) n.421-27986C= n.7C= | |
12 | g.6021920G>T | CA383510403 | VWF | c.3654C>A (p.Asp1218Glu) n.421-27986C>A n.7C>A | |
12 | g.6021921T>A | CA383510412 | VWF | c.3653A>T (p.Asp1218Val) n.421-27987A>T n.6A>T | |
12 | g.6021921T>C | CA383510407 | VWF | c.3653A>G (p.Asp1218Gly) n.421-27987A>G n.6A>G | |
12 | g.6021921T>G | CA383510406 | VWF | c.3653A>C (p.Asp1218Ala) n.421-27987A>C n.6A>C | |
12 | g.6021922C>A | CA383510413 | VWF | c.3652G>T (p.Asp1218Tyr) n.421-27988G>T n.5G>T | |
12 | g.6021922C>G | CA383510414 | VWF | c.3652G>C (p.Asp1218His) n.421-27988G>C n.5G>C | |
12 | g.6021922C>T | CA383510415 | VWF | c.3652G>A (p.Asp1218Asn) n.421-27988G>A n.5G>A | |
12 | g.6021923A>C | CA383510416 | VWF | c.3651T>G (p.Ser1217Arg) n.421-27989T>G n.4T>G | |
12 | g.6021923A>G | CA478101223 | VWF | c.3651T>C (p.Ser1217=) n.421-27989T>C n.4T>C | |
12 | g.6021923A>T | CA383510417 | VWF | c.3651T>A (p.Ser1217Arg) n.421-27989T>A n.4T>A | |
12 | g.6021924C>A | CA383510418 | VWF | c.3650G>T (p.Ser1217Ile) n.421-27990G>T n.3G>T | |
12 | g.6021924C>G | CA383510419 | VWF | c.3650G>C (p.Ser1217Thr) n.421-27990G>C n.3G>C | gnomAD v4 |
12 | g.6021924C>T | CA383510420 | VWF | c.3650G>A (p.Ser1217Asn) n.421-27990G>A n.3G>A | |
12 | g.6021927_6021951dup | CA2617230152 | VWF | c.3626_3650dup (p.Ser1217ArgfsTer10) n.421-28014_421-27990dup | gnomAD v4 |
12 | g.6021925T>A | CA383510421 | VWF | c.3649A>T (p.Ser1217Cys) n.421-27991A>T n.2A>T | gnomAD v4 |
12 | g.6021925T>C | CA383510422 | VWF | c.3649A>G (p.Ser1217Gly) n.421-27991A>G n.2A>G | |
12 | g.6021925T>G | CA383510423 | VWF | c.3649A>C (p.Ser1217Arg) n.421-27991A>C n.2A>C | |
12 | g.6021926G>A | CA478101224 | VWF | c.3648C>T (p.Pro1216=) n.421-27992C>T n.1C>T | gnomAD v4 |
12 | g.6021926G>C | CA232297978 | VWF | c.3648C>G (p.Pro1216=) n.421-27992C>G n.1C>G | dbSNP gnomAD v4 |
12 | g.6021926G= | CA2013874083 | VWF | c.3648C= (p.Pro1216=) n.421-27992C= n.1C= | |
12 | g.6021926G>T | CA478101226 | VWF | c.3648C>A (p.Pro1216=) n.421-27992C>A n.1C>A | |
12 | g.6021927G>A | CA383510426 | VWF | c.3647C>T (p.Pro1216Leu) n.421-27993C>T | |
12 | g.6021927G>C | CA383510424 | VWF | c.3647C>G (p.Pro1216Arg) n.421-27993C>G | |
12 | g.6021927G>T | CA383510425 | VWF | c.3647C>A (p.Pro1216His) n.421-27993C>A | |
12 | g.6021928G>A | CA383510427 | VWF | c.3646C>T (p.Pro1216Ser) n.421-27994C>T | |
12 | g.6021928G>C | CA383510428 | VWF | c.3646C>G (p.Pro1216Ala) n.421-27994C>G | |
12 | g.6021928G>T | CA383510429 | VWF | c.3646C>A (p.Pro1216Thr) n.421-27994C>A | |
12 | g.6021929A>C | CA383510431 | VWF | c.3645T>G (p.Asn1215Lys) n.421-27995T>G | |
12 | g.6021929A>G | CA478101227 | VWF | c.3645T>C (p.Asn1215=) n.421-27995T>C | |
12 | g.6021929A>T | CA383510433 | VWF | c.3645T>A (p.Asn1215Lys) n.421-27995T>A | |
12 | g.6021930T>A | CA383510435 | VWF | c.3644A>T (p.Asn1215Ile) n.421-27996A>T | |
12 | g.6021930T>C | CA383510436 | VWF | c.3644A>G (p.Asn1215Ser) n.421-27996A>G | |
12 | g.6021930T>G | CA383510438 | VWF | c.3644A>C (p.Asn1215Thr) n.421-27996A>C | |
12 | g.6021931T>A | CA383510441 | VWF | c.3643A>T (p.Asn1215Tyr) n.421-27997A>T | |
12 | g.6021931T>C | CA383510442 | VWF | c.3643A>G (p.Asn1215Asp) n.421-27997A>G | |
12 | g.6021931T>G | CA383510443 | VWF | c.3643A>C (p.Asn1215His) n.421-27997A>C | |
12 | g.6021932C>A | CA383510447 | VWF | c.3642G>T (p.Leu1214Phe) n.421-27998G>T | |
12 | g.6021932C>G | CA383510445 | VWF | c.3642G>C (p.Leu1214Phe) n.421-27998G>C | gnomAD v4 |
12 | g.6021932C>T | CA478101228 | VWF | c.3642G>A (p.Leu1214=) n.421-27998G>A | |
12 | g.6021933A>C | CA383510448 | VWF | c.3641T>G (p.Leu1214Trp) n.421-27999T>G | |
12 | g.6021933A>G | CA383510452 | VWF | c.3641T>C (p.Leu1214Ser) n.421-27999T>C | |
12 | g.6021933A>T | CA383510449 | VWF | c.3641T>A (p.Leu1214Ter) n.421-27999T>A | |
12 | g.6021934A= | CA2013874084 | VWF | c.3640T= (p.Leu1214=) n.421-28000T= | |
12 | g.6021934A>C | CA383510455 | VWF | c.3640T>G (p.Leu1214Val) n.421-28000T>G | |
12 | g.6021934A>G | CA478101229 | VWF | c.3640T>C (p.Leu1214=) n.421-28000T>C | dbSNP |
12 | g.6021934A>T | CA383510459 | VWF | c.3640T>A (p.Leu1214Met) n.421-28000T>A | |
12 | g.6021935G>A | CA478101230 | VWF | c.3639C>T (p.Thr1213=) n.421-28001C>T | |
12 | g.6021935G>C | CA478101232 | VWF | c.3639C>G (p.Thr1213=) n.421-28001C>G | |
12 | g.6021935G>T | CA478101231 | VWF | c.3639C>A (p.Thr1213=) n.421-28001C>A | |
12 | g.6021936G>A | CA383510463 | VWF | c.3638C>T (p.Thr1213Ile) n.421-28002C>T | gnomAD v4 |
12 | g.6021936G>C | CA383510465 | VWF | c.3638C>G (p.Thr1213Ser) n.421-28002C>G | |
12 | g.6021936G>T | CA383510469 | VWF | c.3638C>A (p.Thr1213Asn) n.421-28002C>A | |
12 | g.6021937T>A | CA383510471 | VWF | c.3637A>T (p.Thr1213Ser) n.421-28003A>T | |
12 | g.6021937T>C | CA383510472 | VWF | c.3637A>G (p.Thr1213Ala) n.421-28003A>G | |
12 | g.6021937T>G | CA383510475 | VWF | c.3637A>C (p.Thr1213Pro) n.421-28003A>C | |
12 | g.6021938G>A | CA478101233 | VWF | c.3636C>T (p.Val1212=) n.421-28004C>T | |
12 | g.6021938G>C | CA478101234 | VWF | c.3636C>G (p.Val1212=) n.421-28004C>G | |
12 | g.6021938G>T | CA478101235 | VWF | c.3636C>A (p.Val1212=) n.421-28004C>A | gnomAD v4 |
12 | g.6021939A>C | CA383510479 | VWF | c.3635T>G (p.Val1212Gly) n.421-28005T>G | |
12 | g.6021939A>G | CA383510481 | VWF | c.3635T>C (p.Val1212Ala) n.421-28005T>C | |
12 | g.6021939A>T | CA383510483 | VWF | c.3635T>A (p.Val1212Asp) n.421-28005T>A | gnomAD v4 |
12 | g.6021940C>A | CA383510493 | VWF | c.3634G>T (p.Val1212Phe) n.421-28006G>T | |
12 | g.6021940C>G | CA383510486 | VWF | c.3634G>C (p.Val1212Leu) n.421-28006G>C | |
12 | g.6021940C>T | CA383510489 | VWF | c.3634G>A (p.Val1212Ile) n.421-28006G>A | gnomAD v4 COSMIC |
12 | g.6021941T>A | CA383510497 | VWF | c.3633A>T (p.Lys1211Asn) n.421-28007A>T | |
12 | g.6021941T>C | CA478101236 | VWF | c.3633A>G (p.Lys1211=) n.421-28007A>G | dbSNP |
12 | g.6021941T>G | CA383510500 | VWF | c.3633A>C (p.Lys1211Asn) n.421-28007A>C | |
12 | g.6021941T= | CA2013874085 | VWF | c.3633A= (p.Lys1211=) n.421-28007A= | |
12 | g.6021942T>A | CA383510505 | VWF | c.3632A>T (p.Lys1211Ile) n.421-28008A>T | |
12 | g.6021942T>C | CA383510508 | VWF | c.3632A>G (p.Lys1211Arg) n.421-28008A>G | |
12 | g.6021942T>G | CA383510520 | VWF | c.3632A>C (p.Lys1211Thr) n.421-28008A>C | |
12 | g.6021943T>A | CA383510524 | VWF | c.3631A>T (p.Lys1211Ter) n.421-28009A>T | |
12 | g.6021943T>C | CA383510525 | VWF | c.3631A>G (p.Lys1211Glu) n.421-28009A>G | COSMIC |
12 | g.6021943T>G | CA383510527 | VWF | c.3631A>C (p.Lys1211Gln) n.421-28009A>C | |
12 | g.6021944C>A | CA383510530 | VWF | c.3630G>T (p.Lys1210Asn) n.421-28010G>T | |
12 | g.6021944C>G | CA383510533 | VWF | c.3630G>C (p.Lys1210Asn) n.421-28010G>C | |
12 | g.6021944C>T | CA478101237 | VWF | c.3630G>A (p.Lys1210=) n.421-28010G>A | |
12 | g.6021945T>A | CA383510536 | VWF | c.3629A>T (p.Lys1210Met) n.421-28011A>T | |
12 | g.6021945T>C | CA383510537 | VWF | c.3629A>G (p.Lys1210Arg) n.421-28011A>G | |
12 | g.6021945T>G | CA383510535 | VWF | c.3629A>C (p.Lys1210Thr) n.421-28011A>C | |
12 | g.6021946T>A | CA383510539 | VWF | c.3628A>T (p.Lys1210Ter) n.421-28012A>T | |
12 | g.6021946T>C | CA383510549 | VWF | c.3628A>G (p.Lys1210Glu) n.421-28012A>G | |
12 | g.6021946T>G | CA383510552 | VWF | c.3628A>C (p.Lys1210Gln) n.421-28012A>C | |
12 | g.6021947T>A | CA478101238 | VWF | c.3627A>T (p.Gly1209=) n.421-28013A>T | |
12 | g.6021947T>C | CA478101239 | VWF | c.3627A>G (p.Gly1209=) n.421-28013A>G | gnomAD v4 |
12 | g.6021947T>G | CA478101240 | VWF | c.3627A>C (p.Gly1209=) n.421-28013A>C | |
12 | g.6021948C>A | CA383510556 | VWF | c.3626G>T (p.Gly1209Val) n.421-28014G>T | gnomAD v4 |
12 | g.6021948C= | CA2013874086 | VWF | c.3626G= (p.Gly1209=) n.421-28014G= | |
12 | g.6021948C>G | CA383510561 | VWF | c.3626G>C (p.Gly1209Ala) n.421-28014G>C | |
12 | g.6021948C>T | CA383510562 | VWF | c.3626G>A (p.Gly1209Glu) n.421-28014G>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6021949C>A | CA383510563 | VWF | c.3625G>T (p.Gly1209Ter) n.421-28015G>T | |
12 | g.6021949C>G | CA383510564 | VWF | c.3625G>C (p.Gly1209Arg) n.421-28015G>C | |
12 | g.6021949C>T | CA383510567 | VWF | c.3625G>A (p.Gly1209Arg) n.421-28015G>A | |
12 | g.6021950T>A | CA478101243 | VWF | c.3624A>T (p.Ser1208=) n.421-28016A>T | |
12 | g.6021950T>C | CA478101241 | VWF | c.3624A>G (p.Ser1208=) n.421-28016A>G | dbSNP gnomAD v4 |
12 | g.6021950T>G | CA478101242 | VWF | c.3624A>C (p.Ser1208=) n.421-28016A>C | |
12 | g.6021950T= | CA2013874087 | VWF | c.3624A= (p.Ser1208=) n.421-28016A= | |
12 | g.6021951G>A | CA232297979 | VWF | c.3623C>T (p.Ser1208Leu) n.421-28017C>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6021951G>C | CA383510574 | VWF | c.3623C>G (p.Ser1208Ter) n.421-28017C>G | |
12 | g.6021951G= | CA2013874088 | VWF | c.3623C= (p.Ser1208=) n.421-28017C= | |
12 | g.6021951G>T | CA383510579 | VWF | c.3623C>A (p.Ser1208Ter) n.421-28017C>A | |
12 | g.6021952del | CA2695216046 | VWF | c.3622del (p.Ser1208GlnfsTer7) n.421-28018del | |
12 | g.6021952A= | CA2013874089 | VWF | c.3622T= (p.Ser1208=) n.421-28018T= | |
12 | g.6021952A>C | CA383510587 | VWF | c.3622T>G (p.Ser1208Ala) n.421-28018T>G | |
12 | g.6021952A>G | CA6402722 | VWF | c.3622T>C (p.Ser1208Pro) n.421-28018T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6021952A>T | CA383510583 | VWF | c.3622T>A (p.Ser1208Thr) n.421-28018T>A | |
12 | g.6021953G>A | CA478101244 | VWF | c.3621C>T (p.Ala1207=) n.421-28019C>T | |
12 | g.6021953G>C | CA478101245 | VWF | c.3621C>G (p.Ala1207=) n.421-28019C>G | |
12 | g.6021953G>T | CA478101246 | VWF | c.3621C>A (p.Ala1207=) n.421-28019C>A | |
12 | g.6021954G>A | CA383510599 | VWF | c.3620C>T (p.Ala1207Val) n.421-28020C>T | |
12 | g.6021954G>C | CA383510603 | VWF | c.3620C>G (p.Ala1207Gly) n.421-28020C>G | |
12 | g.6021954G>T | CA383510606 | VWF | c.3620C>A (p.Ala1207Asp) n.421-28020C>A | |
12 | g.6021955C>A | CA6402723 | VWF | c.3619G>T (p.Ala1207Ser) n.421-28021G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6021955C= | CA2013874090 | VWF | c.3619G= (p.Ala1207=) n.421-28021G= | |
12 | g.6021955C>G | CA383510613 | VWF | c.3619G>C (p.Ala1207Pro) n.421-28021G>C | |
12 | g.6021955C>T | CA383510618 | VWF | c.3619G>A (p.Ala1207Thr) n.421-28021G>A | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6021956A>C | CA383510622 | VWF | c.3618T>G (p.Phe1206Leu) n.421-28022T>G | |
12 | g.6021956A>G | CA478101247 | VWF | c.3618T>C (p.Phe1206=) n.421-28022T>C | |
12 | g.6021956A>T | CA383510623 | VWF | c.3618T>A (p.Phe1206Leu) n.421-28022T>A | |
12 | g.6021957A>C | CA383510624 | VWF | c.3617T>G (p.Phe1206Cys) n.421-28023T>G | gnomAD v4 |
12 | g.6021957A>G | CA383510625 | VWF | c.3617T>C (p.Phe1206Ser) n.421-28023T>C | COSMIC |
12 | g.6021957A>T | CA383510627 | VWF | c.3617T>A (p.Phe1206Tyr) n.421-28023T>A | |
12 | g.6021958A>C | CA383510632 | VWF | c.3616T>G (p.Phe1206Val) n.421-28024T>G | |
12 | g.6021958A>G | CA383510636 | VWF | c.3616T>C (p.Phe1206Leu) n.421-28024T>C | |
12 | g.6021958A>T | CA383510639 | VWF | c.3616T>A (p.Phe1206Ile) n.421-28024T>A | |
12 | g.6021959A>C | CA478101248 | VWF | c.3615T>G (p.Arg1205=) n.421-28025T>G | |
12 | g.6021959A>G | CA478101249 | VWF | c.3615T>C (p.Arg1205=) n.421-28025T>C | |
12 | g.6021959A>T | CA478101250 | VWF | c.3615T>A (p.Arg1205=) n.421-28025T>A | |
12 | g.6021960C>A | CA228427 | VWF | c.3614G>T (p.Arg1205Leu) n.421-28026G>T | ClinVar dbSNP |
12 | g.6021960C= | CA2013874091 | VWF | c.3614G= (p.Arg1205=) n.421-28026G= | |
12 | g.6021960C>G | CA383510653 | VWF | c.3614G>C (p.Arg1205Pro) n.421-28026G>C | |
12 | g.6021960C>T | CA114160 | VWF | c.3614G>A (p.Arg1205His) n.421-28026G>A | ClinVar dbSNP gnomAD v4 |
12 | g.6021961G>A | CA6402724 | VWF | c.3613C>T (p.Arg1205Cys) n.421-28027C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6021961G>C | CA383510671 | VWF | c.3613C>G (p.Arg1205Gly) n.421-28027C>G | |
12 | g.6021961G= | CA2013874092 | VWF | c.3613C= (p.Arg1205=) n.421-28027C= | |
12 | g.6021961G>T | CA383510675 | VWF | c.3613C>A (p.Arg1205Ser) n.421-28027C>A | gnomAD v4 |
12 | g.6021962C>A | CA478101251 | VWF | c.3612G>T (p.Arg1204=) n.421-28028G>T | |
12 | g.6021962C= | CA2013874093 | VWF | c.3612G= (p.Arg1204=) n.421-28028G= | |
12 | g.6021962C>G | CA478101252 | VWF | c.3612G>C (p.Arg1204=) n.421-28028G>C | gnomAD v4 |
12 | g.6021962C>T | CA478101253 | VWF | c.3612G>A (p.Arg1204=) n.421-28028G>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6021963C>A | CA383510676 | VWF | c.3611G>T (p.Arg1204Leu) n.421-28029G>T | dbSNP COSMIC |
12 | g.6021963C= | CA2013874094 | VWF | c.3611G= (p.Arg1204=) n.421-28029G= | |
12 | g.6021963C>G | CA383510678 | VWF | c.3611G>C (p.Arg1204Pro) n.421-28029G>C | |
12 | g.6021963C>T | CA232297980 | VWF | c.3611G>A (p.Arg1204Gln) n.421-28029G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6021964G>A | CA6402725 | VWF | c.3610C>T (p.Arg1204Trp) n.421-28030C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6021964G>C | CA383510690 | VWF | c.3610C>G (p.Arg1204Gly) n.421-28030C>G | |
12 | g.6021964G= | CA2013874095 | VWF | c.3610C= (p.Arg1204=) n.421-28030C= | |
12 | g.6021964G>T | CA478101254 | VWF | c.3610C>A (p.Arg1204=) n.421-28030C>A | |
12 | g.6021965G>A | CA478101255 | VWF | c.3609C>T (p.Gly1203=) n.421-28031C>T | COSMIC |
12 | g.6021965G>C | CA478101256 | VWF | c.3609C>G (p.Gly1203=) n.421-28031C>G | |
12 | g.6021965G>T | CA478101257 | VWF | c.3609C>A (p.Gly1203=) n.421-28031C>A | |
12 | g.6021966C>A | CA383510697 | VWF | c.3608G>T (p.Gly1203Val) n.421-28032G>T | |
12 | g.6021966C= | CA2013874096 | VWF | c.3608G= (p.Gly1203=) n.421-28032G= | |
12 | g.6021966C>G | CA383510700 | VWF | c.3608G>C (p.Gly1203Ala) n.421-28032G>C | |
12 | g.6021966C>T | CA6402726 | VWF | c.3608G>A (p.Gly1203Asp) n.421-28032G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6021967C>A | CA383510708 | VWF | c.3607G>T (p.Gly1203Cys) n.421-28033G>T | |
12 | g.6021967C>G | CA383510710 | VWF | c.3607G>C (p.Gly1203Arg) n.421-28033G>C | |
12 | g.6021967C>T | CA383510716 | VWF | c.3607G>A (p.Gly1203Ser) n.421-28033G>A | |
12 | g.6021968A>C | CA478101258 | VWF | c.3606T>G (p.Ala1202=) n.421-28034T>G | |
12 | g.6021968A>G | CA478101259 | VWF | c.3606T>C (p.Ala1202=) n.421-28034T>C | |
12 | g.6021968A>T | CA478101260 | VWF | c.3606T>A (p.Ala1202=) n.421-28034T>A | |
12 | g.6021969G>A | CA6402727 | VWF | c.3605C>T (p.Ala1202Val) n.421-28035C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6021969G>C | CA383510719 | VWF | c.3605C>G (p.Ala1202Gly) n.421-28035C>G | |
12 | g.6021969G= | CA2013874097 | VWF | c.3605C= (p.Ala1202=) n.421-28035C= | |
12 | g.6021969G>T | CA383510718 | VWF | c.3605C>A (p.Ala1202Asp) n.421-28035C>A | |
12 | g.6021970C>A | CA383510720 | VWF | c.3604G>T (p.Ala1202Ser) n.421-28036G>T | gnomAD v4 |
12 | g.6021970C>G | CA383510722 | VWF | c.3604G>C (p.Ala1202Pro) n.421-28036G>C | |
12 | g.6021970C>T | CA383510725 | VWF | c.3604G>A (p.Ala1202Thr) n.421-28036G>A | |
12 | g.6021970_6021971insTTAGAGA | CA2545606998 | VWF | c.3603_3604insTCTCTAA (p.Ala1202SerfsTer19) n.421-28037_421-28036insTCTCTAA | |
12 | g.6021971C>A | CA478101263 | VWF | c.3603G>T (p.Val1201=) n.421-28037G>T | |
12 | g.6021971C>G | CA478101262 | VWF | c.3603G>C (p.Val1201=) n.421-28037G>C | |
12 | g.6021971C>T | CA478101261 | VWF | c.3603G>A (p.Val1201=) n.421-28037G>A | |
12 | g.6021972A= | CA2013874098 | VWF | c.3602T= (p.Val1201=) n.421-28038T= | |
12 | g.6021972A>C | CA383510728 | VWF | c.3602T>G (p.Val1201Gly) n.421-28038T>G | |
12 | g.6021972A>G | CA383510731 | VWF | c.3602T>C (p.Val1201Ala) n.421-28038T>C | dbSNP |
12 | g.6021972A>T | CA383510734 | VWF | c.3602T>A (p.Val1201Glu) n.421-28038T>A | |
12 | g.6021973C>A | CA383510738 | VWF | c.3601G>T (p.Val1201Leu) n.421-28039G>T | |
12 | g.6021973C>G | CA383510739 | VWF | c.3601G>C (p.Val1201Leu) n.421-28039G>C | |
12 | g.6021973C>T | CA383510743 | VWF | c.3601G>A (p.Val1201Met) n.421-28039G>A | |
12 | g.6021974C>A | CA383510748 | VWF | c.3600G>T (p.Glu1200Asp) n.421-28040G>T | |
12 | g.6021974C>G | CA383510751 | VWF | c.3600G>C (p.Glu1200Asp) n.421-28040G>C | |
12 | g.6021974C>T | CA478101264 | VWF | c.3600G>A (p.Glu1200=) n.421-28040G>A | |
12 | g.6021975T>A | CA383510754 | VWF | c.3599A>T (p.Glu1200Val) n.421-28041A>T | |
12 | g.6021975T>C | CA383510758 | VWF | c.3599A>G (p.Glu1200Gly) n.421-28041A>G | |
12 | g.6021975T>G | CA383510762 | VWF | c.3599A>C (p.Glu1200Ala) n.421-28041A>C | |
12 | g.6021976C>A | CA383510780 | VWF | c.3598G>T (p.Glu1200Ter) n.421-28042G>T | |
12 | g.6021976C= | CA2013874099 | VWF | c.3598G= (p.Glu1200=) n.421-28042G= | |
12 | g.6021976C>G | CA383510781 | VWF | c.3598G>C (p.Glu1200Gln) n.421-28042G>C | |
12 | g.6021976C>T | CA383510777 | VWF | c.3598G>A (p.Glu1200Lys) n.421-28042G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6021981_6021982del | CA645595302 | VWF | c.3597_3598del (p.Cys1199Ter) n.421-28043_421-28042del | COSMIC |
12 | g.6021977A>C | CA383510782 | VWF | c.3597T>G (p.Cys1199Trp) n.421-28043T>G | |
12 | g.6021977A>G | CA478101265 | VWF | c.3597T>C (p.Cys1199=) n.421-28043T>C | |
12 | g.6021977A>T | CA383510783 | VWF | c.3597T>A (p.Cys1199Ter) n.421-28043T>A | |
12 | g.6021978C>A | CA383510787 | VWF | c.3596G>T (p.Cys1199Phe) n.421-28044G>T | |
12 | g.6021978C>G | CA383510814 | VWF | c.3596G>C (p.Cys1199Ser) n.421-28044G>C | |
12 | g.6021978C>T | CA383510822 | VWF | c.3596G>A (p.Cys1199Tyr) n.421-28044G>A | COSMIC |
12 | g.6021979A>C | CA383510827 | VWF | c.3595T>G (p.Cys1199Gly) n.421-28045T>G | |
12 | g.6021979A>G | CA383510833 | VWF | c.3595T>C (p.Cys1199Arg) n.421-28045T>C | |
12 | g.6021979A>T | CA383510836 | VWF | c.3595T>A (p.Cys1199Ser) n.421-28045T>A | gnomAD v4 |
12 | g.6021980C>A | CA232297981 | VWF | c.3594G>T (p.Val1198=) n.421-28046G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6021980C= | CA2013874100 | VWF | c.3594G= (p.Val1198=) n.421-28046G= | |
12 | g.6021980C>G | CA478101266 | VWF | c.3594G>C (p.Val1198=) n.421-28046G>C | |
12 | g.6021980C>T | CA6402728 | VWF | c.3594G>A (p.Val1198=) n.421-28046G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.6021981A= | CA2013874101 | VWF | c.3593T= (p.Val1198=) n.421-28047T= | |
12 | g.6021981A>C | CA383510853 | VWF | c.3593T>G (p.Val1198Gly) n.421-28047T>G | |
12 | g.6021981A>G | CA383510856 | VWF | c.3593T>C (p.Val1198Ala) n.421-28047T>C | dbSNP |
12 | g.6021981A>T | CA383510859 | VWF | c.3593T>A (p.Val1198Glu) n.421-28047T>A | |
12 | g.6021982C>A | CA383510865 | VWF | c.3592G>T (p.Val1198Leu) n.421-28048G>T | |
12 | g.6021982C>G | CA383510863 | VWF | c.3592G>C (p.Val1198Leu) n.421-28048G>C | |
12 | g.6021982C>T | CA383510864 | VWF | c.3592G>A (p.Val1198Met) n.421-28048G>A | |
12 | g.6021983T>A | CA478101267 | VWF | c.3591A>T (p.Pro1197=) n.421-28049A>T | |
12 | g.6021983T>C | CA478101268 | VWF | c.3591A>G (p.Pro1197=) n.421-28049A>G | dbSNP gnomAD v4 |
12 | g.6021983T>G | CA478101269 | VWF | c.3591A>C (p.Pro1197=) n.421-28049A>C | dbSNP |
12 | g.6021983T= | CA2013874102 | VWF | c.3591A= (p.Pro1197=) n.421-28049A= | |
12 | g.6021984G>A | CA6402729 | VWF | c.3590C>T (p.Pro1197Leu) n.421-28050C>T | dbSNP ExAC gnomAD v4 |
12 | g.6021984G>C | CA383510869 | VWF | c.3590C>G (p.Pro1197Arg) n.421-28050C>G | |
12 | g.6021984G= | CA2013874103 | VWF | c.3590C= (p.Pro1197=) n.421-28050C= | |
12 | g.6021984G>T | CA383510872 | VWF | c.3590C>A (p.Pro1197Gln) n.421-28050C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.6021985G>A | CA383510881 | VWF | c.3589C>T (p.Pro1197Ser) n.421-28051C>T | |
12 | g.6021985G>C | CA383510883 | VWF | c.3589C>G (p.Pro1197Ala) n.421-28051C>G | |
12 | g.6021985G>T | CA383510889 | VWF | c.3589C>A (p.Pro1197Thr) n.421-28051C>A | |
12 | g.6021985_6021987dup | CA2617230153 | VWF | c.3587_3589dup (p.Cys1196_Pro1197insArg) n.421-28053_421-28051dup | gnomAD v4 |
12 | g.6021986A= | CA2013874104 | VWF | c.3588T= (p.Cys1196=) n.421-28052T= | |
12 | g.6021986A>C | CA6402730 | VWF | c.3588T>G (p.Cys1196Trp) n.421-28052T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6021986A>G | CA478101270 | VWF | c.3588T>C (p.Cys1196=) n.421-28052T>C | dbSNP gnomAD v4 |
12 | g.6021986A>T | CA383510900 | VWF | c.3588T>A (p.Cys1196Ter) n.421-28052T>A | |
12 | g.6021987C>A | CA383510903 | VWF | c.3587G>T (p.Cys1196Phe) n.421-28053G>T | |
12 | g.6021987C>G | CA383510905 | VWF | c.3587G>C (p.Cys1196Ser) n.421-28053G>C | |
12 | g.6021987C>T | CA383510910 | VWF | c.3587G>A (p.Cys1196Tyr) n.421-28053G>A | |
12 | g.6021988A= | CA2013874105 | VWF | c.3586T= (p.Cys1196=) n.421-28054T= | |
12 | g.6021988A>C | CA383510921 | VWF | c.3586T>G (p.Cys1196Gly) n.421-28054T>G | |
12 | g.6021988A>G | CA228425 | VWF | c.3586T>C (p.Cys1196Arg) n.421-28054T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.6021988A>T | CA383510915 | VWF | c.3586T>A (p.Cys1196Ser) n.421-28054T>A | |
12 | g.6021989G>A | CA478101271 | VWF | c.3585C>T (p.Asp1195=) n.421-28055C>T | |
12 | g.6021989G>C | CA383510924 | VWF | c.3585C>G (p.Asp1195Glu) n.421-28055C>G | |
12 | g.6021989G>T | CA383510927 | VWF | c.3585C>A (p.Asp1195Glu) n.421-28055C>A | |
12 | g.6021990T>A | CA383510933 | VWF | c.3584A>T (p.Asp1195Val) n.421-28056A>T | |
12 | g.6021990T>C | CA383510936 | VWF | c.3584A>G (p.Asp1195Gly) n.421-28056A>G | |
12 | g.6021990T>G | CA383510939 | VWF | c.3584A>C (p.Asp1195Ala) n.421-28056A>C | |
12 | g.6021991C>A | CA6402731 | VWF | c.3583G>T (p.Asp1195Tyr) n.421-28057G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6021991C= | CA2013874106 | VWF | c.3583G= (p.Asp1195=) n.421-28057G= | |
12 | g.6021991C>G | CA383510942 | VWF | c.3583G>C (p.Asp1195His) n.421-28057G>C | |
12 | g.6021991C>T | CA383510943 | VWF | c.3583G>A (p.Asp1195Asn) n.421-28057G>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6021992T>A | CA383510944 | VWF | c.3582A>T (p.Glu1194Asp) n.421-28058A>T | |
12 | g.6021992T>C | CA478101272 | VWF | c.3582A>G (p.Glu1194=) n.421-28058A>G | |
12 | g.6021992T>G | CA383510945 | VWF | c.3582A>C (p.Glu1194Asp) n.421-28058A>C | |
12 | g.6021993T>A | CA383510946 | VWF | c.3581A>T (p.Glu1194Val) n.421-28059A>T | |
12 | g.6021993T>C | CA383510947 | VWF | c.3581A>G (p.Glu1194Gly) n.421-28059A>G | |
12 | g.6021993T>G | CA383510948 | VWF | c.3581A>C (p.Glu1194Ala) n.421-28059A>C | |
12 | g.6021994C>A | CA383510949 | VWF | c.3580G>T (p.Glu1194Ter) n.421-28060G>T | |
12 | g.6021994C= | CA2013874107 | VWF | c.3580G= (p.Glu1194=) n.421-28060G= | |
12 | g.6021994C>G | CA383510950 | VWF | c.3580G>C (p.Glu1194Gln) n.421-28060G>C | |
12 | g.6021994C>T | CA383510951 | VWF | c.3580G>A (p.Glu1194Lys) n.421-28060G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
12 | g.6021995A= | CA2013874108 | VWF | c.3579T= (p.Pro1193=) n.421-28061T= | |
12 | g.6021995A>C | CA6402733 | VWF | c.3579T>G (p.Pro1193=) n.421-28061T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6021995A>G | CA6402732 | VWF | c.3579T>C (p.Pro1193=) n.421-28061T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6021995A>T | CA478101273 | VWF | c.3579T>A (p.Pro1193=) n.421-28061T>A | |
12 | g.6021996G>A | CA383510952 | VWF | c.3578C>T (p.Pro1193Leu) n.421-28062C>T | gnomAD v4 |
12 | g.6021996G>C | CA383510953 | VWF | c.3578C>G (p.Pro1193Arg) n.421-28062C>G | |
12 | g.6021996G>T | CA383510954 | VWF | c.3578C>A (p.Pro1193His) n.421-28062C>A | |
12 | g.6021997G>A | CA383510955 | VWF | c.3577C>T (p.Pro1193Ser) n.421-28063C>T | gnomAD v4 |
12 | g.6021997G>C | CA383510956 | VWF | c.3577C>G (p.Pro1193Ala) n.421-28063C>G | gnomAD v4 |
12 | g.6021997G>T | CA383510957 | VWF | c.3577C>A (p.Pro1193Thr) n.421-28063C>A | |
12 | g.6021998G>A | CA478101274 | VWF | c.3576C>T (p.Asp1192=) n.421-28064C>T | |
12 | g.6021998G>C | CA383510958 | VWF | c.3576C>G (p.Asp1192Glu) n.421-28064C>G | |
12 | g.6021998G>T | CA383510959 | VWF | c.3576C>A (p.Asp1192Glu) n.421-28064C>A | |
12 | g.6021999T>A | CA383510960 | VWF | c.3575A>T (p.Asp1192Val) n.421-28065A>T | |
12 | g.6021999T>C | CA383510961 | VWF | c.3575A>G (p.Asp1192Gly) n.421-28065A>G | |
12 | g.6021999T>G | CA383510962 | VWF | c.3575A>C (p.Asp1192Ala) n.421-28065A>C | dbSNP |
12 | g.6021999T= | CA2013874109 | VWF | c.3575A= (p.Asp1192=) n.421-28065A= | |
12 | g.6022000C>A | CA383510965 | VWF | c.3574G>T (p.Asp1192Tyr) n.421-28066G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6022000C= | CA2013874110 | VWF | c.3574G= (p.Asp1192=) n.421-28066G= | |
12 | g.6022000C>G | CA383510964 | VWF | c.3574G>C (p.Asp1192His) n.421-28066G>C | |
12 | g.6022000C>T | CA383510963 | VWF | c.3574G>A (p.Asp1192Asn) n.421-28066G>A | |
12 | g.6022001A>C | CA478101275 | VWF | c.3573T>G (p.Val1191=) n.421-28067T>G | gnomAD v4 |
12 | g.6022001A>G | CA478101276 | VWF | c.3573T>C (p.Val1191=) n.421-28067T>C | |
12 | g.6022001A>T | CA478101277 | VWF | c.3573T>A (p.Val1191=) n.421-28067T>A | |
12 | g.6022002A>C | CA383510966 | VWF | c.3572T>G (p.Val1191Gly) n.421-28068T>G | |
12 | g.6022002A>G | CA383510967 | VWF | c.3572T>C (p.Val1191Ala) n.421-28068T>C | |
12 | g.6022002A>T | CA383510968 | VWF | c.3572T>A (p.Val1191Asp) n.421-28068T>A | |
12 | g.6022003C>A | CA383510969 | VWF | c.3571G>T (p.Val1191Phe) n.421-28069G>T | gnomAD v4 |
12 | g.6022003C= | CA2013874111 | VWF | c.3571G= (p.Val1191=) n.421-28069G= | |
12 | g.6022003C>G | CA383510970 | VWF | c.3571G>C (p.Val1191Leu) n.421-28069G>C | |
12 | g.6022003C>T | CA6402734 | VWF | c.3571G>A (p.Val1191Ile) n.421-28069G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6022004G>A | CA6402735 | VWF | c.3570C>T (p.Cys1190=) n.421-28070C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6022004G>C | CA383510971 | VWF | c.3570C>G (p.Cys1190Trp) n.421-28070C>G | |
12 | g.6022004G= | CA2013874112 | VWF | c.3570C= (p.Cys1190=) n.421-28070C= | |
12 | g.6022004G>T | CA383510972 | VWF | c.3570C>A (p.Cys1190Ter) n.421-28070C>A | |
12 | g.6022005C>A | CA383510973 | VWF | c.3569G>T (p.Cys1190Phe) n.421-28071G>T | ClinVar |
12 | g.6022005C= | CA2013874113 | VWF | c.3569G= (p.Cys1190=) n.421-28071G= | |
12 | g.6022005C>G | CA383510974 | VWF | c.3569G>C (p.Cys1190Ser) n.421-28071G>C | |
12 | g.6022005C>T | CA383510975 | VWF | c.3569G>A (p.Cys1190Tyr) n.421-28071G>A | ClinVar dbSNP gnomAD v4 |
12 | g.6022006A= | CA2013874114 | VWF | c.3568T= (p.Cys1190=) n.421-28072T= | |
12 | g.6022006A>C | CA383510977 | VWF | c.3568T>G (p.Cys1190Gly) n.421-28072T>G | |
12 | g.6022006A>G | CA228423 | VWF | c.3568T>C (p.Cys1190Arg) n.421-28072T>C | ClinVar dbSNP |
12 | g.6022006A>T | CA383510976 | VWF | c.3568T>A (p.Cys1190Ser) n.421-28072T>A | |
12 | g.6022007G>A | CA478101280 | VWF | c.3567C>T (p.Thr1189=) n.421-28073C>T | |
12 | g.6022007G>C | CA478101281 | VWF | c.3567C>G (p.Thr1189=) n.421-28073C>G | |
12 | g.6022007G>T | CA478101282 | VWF | c.3567C>A (p.Thr1189=) n.421-28073C>A | |
12 | g.6022008G>A | CA383510978 | VWF | c.3566C>T (p.Thr1189Ile) n.421-28074C>T | |
12 | g.6022008G>C | CA383510979 | VWF | c.3566C>G (p.Thr1189Ser) n.421-28074C>G | |
12 | g.6022008G= | CA2013874115 | VWF | c.3566C= (p.Thr1189=) n.421-28074C= | |
12 | g.6022008G>T | CA383510980 | VWF | c.3566C>A (p.Thr1189Asn) n.421-28074C>A | dbSNP |
12 | g.6022009T>A | CA383510981 | VWF | c.3565A>T (p.Thr1189Ser) n.421-28075A>T | |
12 | g.6022009T>C | CA383510982 | VWF | c.3565A>G (p.Thr1189Ala) n.421-28075A>G | |
12 | g.6022009T>G | CA383510983 | VWF | c.3565A>C (p.Thr1189Pro) n.421-28075A>C | dbSNP |
12 | g.6022009T= | CA2013874116 | VWF | c.3565A= (p.Thr1189=) n.421-28075A= | |
12 | g.6022010C>A | CA383510984 | VWF | c.3564G>T (p.Gln1188His) n.421-28076G>T | gnomAD v4 |
12 | g.6022010C>G | CA383510985 | VWF | c.3564G>C (p.Gln1188His) n.421-28076G>C | |
12 | g.6022010C>T | CA478101283 | VWF | c.3564G>A (p.Gln1188=) n.421-28076G>A | |
12 | g.6022011T>A | CA383510986 | VWF | c.3563A>T (p.Gln1188Leu) n.421-28077A>T | |
12 | g.6022011T>C | CA383510987 | VWF | c.3563A>G (p.Gln1188Arg) n.421-28077A>G | |
12 | g.6022011T>G | CA383510988 | VWF | c.3563A>C (p.Gln1188Pro) n.421-28077A>C | |
12 | g.6022012G>A | CA383510989 | VWF | c.3562C>T (p.Gln1188Ter) n.421-28078C>T | |
12 | g.6022012G>C | CA383510990 | VWF | c.3562C>G (p.Gln1188Glu) n.421-28078C>G | |
12 | g.6022012G= | CA2013874117 | VWF | c.3562C= (p.Gln1188=) n.421-28078C= | |
12 | g.6022012G>T | CA6402736 | VWF | c.3562C>A (p.Gln1188Lys) n.421-28078C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6022013C>A | CA383510992 | VWF | c.3561G>T (p.Leu1187Phe) n.421-28079G>T | |
12 | g.6022013C>G | CA383510991 | VWF | c.3561G>C (p.Leu1187Phe) n.421-28079G>C | |
12 | g.6022013C>T | CA478101284 | VWF | c.3561G>A (p.Leu1187=) n.421-28079G>A | |
12 | g.6022014A>C | CA383510993 | VWF | c.3560T>G (p.Leu1187Trp) n.421-28080T>G | |
12 | g.6022014A>G | CA383510995 | VWF | c.3560T>C (p.Leu1187Ser) n.421-28080T>C | gnomAD v4 |
12 | g.6022014A>T | CA383510994 | VWF | c.3560T>A (p.Leu1187Ter) n.421-28080T>A | |
12 | g.6022017del | CA2580612141 | VWF | c.3560del (p.Leu1187CysfsTer28) n.421-28080del | |
12 | g.6022015A>C | CA383510996 | VWF | c.3559T>G (p.Leu1187Val) n.421-28081T>G | |
12 | g.6022015A>G | CA478101285 | VWF | c.3559T>C (p.Leu1187=) n.421-28081T>C | |
12 | g.6022015A>T | CA383510997 | VWF | c.3559T>A (p.Leu1187Met) n.421-28081T>A |