Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.6019400G>A | CA478502377 | VWF | c.4018C>T (p.Leu1340=) n.421-25466C>T | |
12 | g.6019400G>C | CA383505750 | VWF | c.4018C>G (p.Leu1340Val) n.421-25466C>G | |
12 | g.6019400G>T | CA383505752 | VWF | c.4018C>A (p.Leu1340Met) n.421-25466C>A | |
12 | g.6019401C>A | CA383505754 | VWF | c.4017G>T (p.Glu1339Asp) n.421-25467G>T | |
12 | g.6019401C= | CA2013872958 | VWF | c.4017G= (p.Glu1339=) n.421-25467G= | |
12 | g.6019401C>G | CA383505756 | VWF | c.4017G>C (p.Glu1339Asp) n.421-25467G>C | ClinVar |
12 | g.6019401C>T | CA232297773 | VWF | c.4017G>A (p.Glu1339=) n.421-25467G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6019402T>A | CA383505760 | VWF | c.4016A>T (p.Glu1339Val) n.421-25468A>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6019402T>C | CA383505758 | VWF | c.4016A>G (p.Glu1339Gly) n.421-25468A>G | |
12 | g.6019402T>G | CA383505759 | VWF | c.4016A>C (p.Glu1339Ala) n.421-25468A>C | |
12 | g.6019402T= | CA2013872959 | VWF | c.4016A= (p.Glu1339=) n.421-25468A= | |
12 | g.6019403C>A | CA383505763 | VWF | c.4015G>T (p.Glu1339Ter) n.421-25469G>T | |
12 | g.6019403C>G | CA383505765 | VWF | c.4015G>C (p.Glu1339Gln) n.421-25469G>C | |
12 | g.6019403C>T | CA383505766 | VWF | c.4015G>A (p.Glu1339Lys) n.421-25469G>A | |
12 | g.6019404T>A | CA478502381 | VWF | c.4014A>T (p.Ser1338=) n.421-25470A>T | |
12 | g.6019404T>C | CA478502380 | VWF | c.4014A>G (p.Ser1338=) n.421-25470A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6019404T>G | CA478502379 | VWF | c.4014A>C (p.Ser1338=) n.421-25470A>C | |
12 | g.6019404T= | CA2013872960 | VWF | c.4014A= (p.Ser1338=) n.421-25470A= | |
12 | g.6019405G>A | CA383505768 | VWF | c.4013C>T (p.Ser1338Leu) n.421-25471C>T | COSMIC |
12 | g.6019405G>C | CA228512 | VWF | c.4013C>G (p.Ser1338Ter) n.421-25471C>G | ClinVar dbSNP |
12 | g.6019405G= | CA2013872961 | VWF | c.4013C= (p.Ser1338=) n.421-25471C= | |
12 | g.6019405G>T | CA383505770 | VWF | c.4013C>A (p.Ser1338Ter) n.421-25471C>A | |
12 | g.6019406A= | CA2013872962 | VWF | c.4012T= (p.Ser1338=) n.421-25472T= | |
12 | g.6019406A>C | CA6402624 | VWF | c.4012T>G (p.Ser1338Ala) n.421-25472T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6019406A>G | CA383505773 | VWF | c.4012T>C (p.Ser1338Pro) n.421-25472T>C | |
12 | g.6019406A>T | CA383505776 | VWF | c.4012T>A (p.Ser1338Thr) n.421-25472T>A | dbSNP |
12 | g.6019407C>A | CA478502382 | VWF | c.4011G>T (p.Pro1337=) n.421-25473G>T | |
12 | g.6019407C= | CA2013872963 | VWF | c.4011G= (p.Pro1337=) n.421-25473G= | |
12 | g.6019407C>G | CA478502383 | VWF | c.4011G>C (p.Pro1337=) n.421-25473G>C | |
12 | g.6019407C>T | CA6402625 | VWF | c.4011G>A (p.Pro1337=) n.421-25473G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.6019408G>A | CA228510 | VWF | c.4010C>T (p.Pro1337Leu) n.421-25474C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.6019408G>C | CA383505781 | VWF | c.4010C>G (p.Pro1337Arg) n.421-25474C>G | |
12 | g.6019408G= | CA2013872964 | VWF | c.4010C= (p.Pro1337=) n.421-25474C= | |
12 | g.6019408G>T | CA383505783 | VWF | c.4010C>A (p.Pro1337Gln) n.421-25474C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.6019409G>A | CA383505788 | VWF | c.4009C>T (p.Pro1337Ser) n.421-25475C>T | gnomAD v4 |
12 | g.6019409G>C | CA383505790 | VWF | c.4009C>G (p.Pro1337Ala) n.421-25475C>G | |
12 | g.6019409G= | CA2013872965 | VWF | c.4009C= (p.Pro1337=) n.421-25475C= | |
12 | g.6019409G>T | CA383505786 | VWF | c.4009C>A (p.Pro1337Thr) n.421-25475C>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6019410T>A | CA6402626 | VWF | c.4008A>T (p.Arg1336=) n.421-25476A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6019410T>C | CA478502384 | VWF | c.4008A>G (p.Arg1336=) n.421-25476A>G | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6019410T>G | CA478502385 | VWF | c.4008A>C (p.Arg1336=) n.421-25476A>C | |
12 | g.6019410T= | CA2013872966 | VWF | c.4008A= (p.Arg1336=) n.421-25476A= | |
12 | g.6019411C>A | CA383505794 | VWF | c.4007G>T (p.Arg1336Leu) n.421-25477G>T | |
12 | g.6019411C= | CA2013872967 | VWF | c.4007G= (p.Arg1336=) n.421-25477G= | |
12 | g.6019411C>G | CA383505796 | VWF | c.4007G>C (p.Arg1336Pro) n.421-25477G>C | COSMIC |
12 | g.6019411C>T | CA10638269 | VWF | c.4007G>A (p.Arg1336Gln) n.421-25477G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6019412G>A | CA383505798 | VWF | c.4006C>T (p.Arg1336Ter) n.421-25478C>T | ClinVar dbSNP gnomAD v4 |
12 | g.6019412G>C | CA383505800 | VWF | c.4006C>G (p.Arg1336Gly) n.421-25478C>G | |
12 | g.6019412G= | CA2013872968 | VWF | c.4006C= (p.Arg1336=) n.421-25478C= | |
12 | g.6019412G>T | CA478502386 | VWF | c.4006C>A (p.Arg1336=) n.421-25478C>A | |
12 | g.6019413C>A | CA383505805 | VWF | c.4005G>T (p.Lys1335Asn) n.421-25479G>T | |
12 | g.6019413C>G | CA383505803 | VWF | c.4005G>C (p.Lys1335Asn) n.421-25479G>C | |
12 | g.6019413C>T | CA478502387 | VWF | c.4005G>A (p.Lys1335=) n.421-25479G>A | gnomAD v4 |
12 | g.6019414T>A | CA383505808 | VWF | c.4004A>T (p.Lys1335Met) n.421-25480A>T | |
12 | g.6019414T>C | CA383505810 | VWF | c.4004A>G (p.Lys1335Arg) n.421-25480A>G | |
12 | g.6019414T>G | CA383505812 | VWF | c.4004A>C (p.Lys1335Thr) n.421-25480A>C | |
12 | g.6019415T>A | CA383505816 | VWF | c.4003A>T (p.Lys1335Ter) n.421-25481A>T | |
12 | g.6019415T>C | CA383505818 | VWF | c.4003A>G (p.Lys1335Glu) n.421-25481A>G | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6019415T>G | CA383505820 | VWF | c.4003A>C (p.Lys1335Gln) n.421-25481A>C | |
12 | g.6019415T= | CA2013872969 | VWF | c.4003A= (p.Lys1335=) n.421-25481A= | |
12 | g.6019416C>A | CA478502388 | VWF | c.4002G>T (p.Arg1334=) n.421-25482G>T | |
12 | g.6019416C>G | CA478502389 | VWF | c.4002G>C (p.Arg1334=) n.421-25482G>C | |
12 | g.6019416C>T | CA478502390 | VWF | c.4002G>A (p.Arg1334=) n.421-25482G>A | |
12 | g.6019417C>A | CA383505827 | VWF | c.4001G>T (p.Arg1334Leu) n.421-25483G>T | |
12 | g.6019417C= | CA2013872970 | VWF | c.4001G= (p.Arg1334=) n.421-25483G= | |
12 | g.6019417C>G | CA383505823 | VWF | c.4001G>C (p.Arg1334Pro) n.421-25483G>C | dbSNP gnomAD v2 |
12 | g.6019417C>T | CA6402627 | VWF | c.4001G>A (p.Arg1334Gln) n.421-25483G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6019418G>A | CA6402628 | VWF | c.4000C>T (p.Arg1334Trp) n.421-25484C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.6019418G>C | CA383505829 | VWF | c.4000C>G (p.Arg1334Gly) n.421-25484C>G | |
12 | g.6019418G= | CA2013872971 | VWF | c.4000C= (p.Arg1334=) n.421-25484C= | |
12 | g.6019418G>T | CA478502391 | VWF | c.4000C>A (p.Arg1334=) n.421-25484C>A | gnomAD v4 |
12 | g.6019419G>A | CA478502392 | VWF | c.3999C>T (p.Asp1333=) n.421-25485C>T | |
12 | g.6019419G>C | CA383505831 | VWF | c.3999C>G (p.Asp1333Glu) n.421-25485C>G | |
12 | g.6019419G>T | CA383505832 | VWF | c.3999C>A (p.Asp1333Glu) n.421-25485C>A | |
12 | g.6019420T>A | CA383505835 | VWF | c.3998A>T (p.Asp1333Val) n.421-25486A>T | |
12 | g.6019420T>C | CA383505836 | VWF | c.3998A>G (p.Asp1333Gly) n.421-25486A>G | |
12 | g.6019420T>G | CA383505838 | VWF | c.3998A>C (p.Asp1333Ala) n.421-25486A>C | |
12 | g.6019421C>A | CA383505841 | VWF | c.3997G>T (p.Asp1333Tyr) n.421-25487G>T | |
12 | g.6019421C= | CA2013872972 | VWF | c.3997G= (p.Asp1333=) n.421-25487G= | |
12 | g.6019421C>G | CA383505842 | VWF | c.3997G>C (p.Asp1333His) n.421-25487G>C | |
12 | g.6019421C>T | CA6402629 | VWF | c.3997G>A (p.Asp1333Asn) n.421-25487G>A | dbSNP ExAC gnomAD v2 |
12 | g.6019422C>A | CA383505846 | VWF | c.3996G>T (p.Lys1332Asn) n.421-25488G>T | gnomAD v4 |
12 | g.6019422C= | CA2013872973 | VWF | c.3996G= (p.Lys1332=) n.421-25488G= | |
12 | g.6019422C>G | CA383505847 | VWF | c.3996G>C (p.Lys1332Asn) n.421-25488G>C | |
12 | g.6019422C>T | CA6402630 | VWF | c.3996G>A (p.Lys1332=) n.421-25488G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6019423T>A | CA383505850 | VWF | c.3995A>T (p.Lys1332Met) n.421-25489A>T | |
12 | g.6019423T>C | CA383505852 | VWF | c.3995A>G (p.Lys1332Arg) n.421-25489A>G | |
12 | g.6019423T>G | CA383505851 | VWF | c.3995A>C (p.Lys1332Thr) n.421-25489A>C | |
12 | g.6019424T>A | CA383505855 | VWF | c.3994A>T (p.Lys1332Ter) n.421-25490A>T | |
12 | g.6019424T>C | CA383505856 | VWF | c.3994A>G (p.Lys1332Glu) n.421-25490A>G | |
12 | g.6019424T>G | CA383505857 | VWF | c.3994A>C (p.Lys1332Gln) n.421-25490A>C | |
12 | g.6019425G>A | CA478502395 | VWF | c.3993C>T (p.Leu1331=) n.421-25491C>T | dbSNP |
12 | g.6019425G>C | CA478502394 | VWF | c.3993C>G (p.Leu1331=) n.421-25491C>G | dbSNP gnomAD v4 |
12 | g.6019425G= | CA2013872974 | VWF | c.3993C= (p.Leu1331=) n.421-25491C= | |
12 | g.6019425G>T | CA478502393 | VWF | c.3993C>A (p.Leu1331=) n.421-25491C>A | |
12 | g.6019426A>C | CA383505859 | VWF | c.3992T>G (p.Leu1331Arg) n.421-25492T>G | |
12 | g.6019426A>G | CA383505861 | VWF | c.3992T>C (p.Leu1331Pro) n.421-25492T>C | |
12 | g.6019426A>T | CA383505863 | VWF | c.3992T>A (p.Leu1331His) n.421-25492T>A | |
12 | g.6019427G>A | CA383505866 | VWF | c.3991C>T (p.Leu1331Phe) n.421-25493C>T | dbSNP gnomAD v4 |
12 | g.6019427G>C | CA383505868 | VWF | c.3991C>G (p.Leu1331Val) n.421-25493C>G | |
12 | g.6019427G= | CA2013872975 | VWF | c.3991C= (p.Leu1331=) n.421-25493C= | |
12 | g.6019427G>T | CA383505870 | VWF | c.3991C>A (p.Leu1331Ile) n.421-25493C>A | |
12 | g.6019428C>A | CA478502402 | VWF | c.3990G>T (p.Gly1330=) n.421-25494G>T | |
12 | g.6019428C>G | CA478502400 | VWF | c.3990G>C (p.Gly1330=) n.421-25494G>C | |
12 | g.6019428C>T | CA478502399 | VWF | c.3990G>A (p.Gly1330=) n.421-25494G>A | |
12 | g.6019429C>A | CA383505871 | VWF | c.3989G>T (p.Gly1330Val) n.421-25495G>T | |
12 | g.6019429C>G | CA383505874 | VWF | c.3989G>C (p.Gly1330Ala) n.421-25495G>C | |
12 | g.6019429C>T | CA383505876 | VWF | c.3989G>A (p.Gly1330Glu) n.421-25495G>A | |
12 | g.6019430C>A | CA383505880 | VWF | c.3988G>T (p.Gly1330Trp) n.421-25496G>T | |
12 | g.6019430C= | CA2013872976 | VWF | c.3988G= (p.Gly1330=) n.421-25496G= | |
12 | g.6019430C>G | CA383505881 | VWF | c.3988G>C (p.Gly1330Arg) n.421-25496G>C | |
12 | g.6019430C>T | CA6402631 | VWF | c.3988G>A (p.Gly1330Arg) n.421-25496G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.6019431G>A | CA6402632 | VWF | c.3987C>T (p.Ile1329=) n.421-25497C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.6019431G>C | CA6402633 | VWF | c.3987C>G (p.Ile1329Met) n.421-25497C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6019431G= | CA2013872977 | VWF | c.3987C= (p.Ile1329=) n.421-25497C= | |
12 | g.6019431G>T | CA478502406 | VWF | c.3987C>A (p.Ile1329=) n.421-25497C>A | |
12 | g.6019432A>C | CA383505887 | VWF | c.3986T>G (p.Ile1329Ser) n.421-25498T>G | |
12 | g.6019432A>G | CA383505889 | VWF | c.3986T>C (p.Ile1329Thr) n.421-25498T>C | |
12 | g.6019432A>T | CA383505891 | VWF | c.3986T>A (p.Ile1329Asn) n.421-25498T>A | |
12 | g.6019433T>A | CA383505898 | VWF | c.3985A>T (p.Ile1329Phe) n.421-25499A>T | |
12 | g.6019433T>C | CA6402634 | VWF | c.3985A>G (p.Ile1329Val) n.421-25499A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6019433T>G | CA383505896 | VWF | c.3985A>C (p.Ile1329Leu) n.421-25499A>C | gnomAD v4 |
12 | g.6019433T= | CA2013872978 | VWF | c.3985A= (p.Ile1329=) n.421-25499A= | |
12 | g.6019434G>A | CA478502411 | VWF | c.3984C>T (p.Tyr1328=) n.421-25500C>T | gnomAD v4 |
12 | g.6019434G>C | CA383505901 | VWF | c.3984C>G (p.Tyr1328Ter) n.421-25500C>G | |
12 | g.6019434G>T | CA383505903 | VWF | c.3984C>A (p.Tyr1328Ter) n.421-25500C>A | |
12 | g.6019435T>A | CA383505906 | VWF | c.3983A>T (p.Tyr1328Phe) n.421-25501A>T | |
12 | g.6019435T>C | CA383505907 | VWF | c.3983A>G (p.Tyr1328Cys) n.421-25501A>G | |
12 | g.6019435T>G | CA383505909 | VWF | c.3983A>C (p.Tyr1328Ser) n.421-25501A>C | |
12 | g.6019436A>C | CA383505916 | VWF | c.3982T>G (p.Tyr1328Asp) n.421-25502T>G | |
12 | g.6019436A>G | CA383505914 | VWF | c.3982T>C (p.Tyr1328His) n.421-25502T>C | |
12 | g.6019436A>T | CA383505912 | VWF | c.3982T>A (p.Tyr1328Asn) n.421-25502T>A | |
12 | g.6019437G>A | CA478502416 | VWF | c.3981C>T (p.Ala1327=) n.421-25503C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6019437G>C | CA478502418 | VWF | c.3981C>G (p.Ala1327=) n.421-25503C>G | |
12 | g.6019437G= | CA2013872979 | VWF | c.3981C= (p.Ala1327=) n.421-25503C= | |
12 | g.6019437G>T | CA478502420 | VWF | c.3981C>A (p.Ala1327=) n.421-25503C>A | COSMIC |
12 | g.6019438G>A | CA6402635 | VWF | c.3980C>T (p.Ala1327Val) n.421-25504C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6019438G>C | CA383505922 | VWF | c.3980C>G (p.Ala1327Gly) n.421-25504C>G | |
12 | g.6019438G= | CA2013872980 | VWF | c.3980C= (p.Ala1327=) n.421-25504C= | |
12 | g.6019438G>T | CA383505919 | VWF | c.3980C>A (p.Ala1327Asp) n.421-25504C>A | |
12 | g.6019439C>A | CA383505924 | VWF | c.3979G>T (p.Ala1327Ser) n.421-25505G>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6019439C= | CA2013872981 | VWF | c.3979G= (p.Ala1327=) n.421-25505G= | |
12 | g.6019439C>G | CA383505927 | VWF | c.3979G>C (p.Ala1327Pro) n.421-25505G>C | |
12 | g.6019439C>T | CA6402636 | VWF | c.3979G>A (p.Ala1327Thr) n.421-25505G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6019440G>A | CA6402637 | VWF | c.3978C>T (p.His1326=) n.421-25506C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6019440G>C | CA383505930 | VWF | c.3978C>G (p.His1326Gln) n.421-25506C>G | COSMIC |
12 | g.6019440G= | CA2013872982 | VWF | c.3978C= (p.His1326=) n.421-25506C= | |
12 | g.6019440G>T | CA383505932 | VWF | c.3978C>A (p.His1326Gln) n.421-25506C>A | |
12 | g.6019441T>A | CA383505934 | VWF | c.3977A>T (p.His1326Leu) n.421-25507A>T | |
12 | g.6019441T>C | CA383505937 | VWF | c.3977A>G (p.His1326Arg) n.421-25507A>G | |
12 | g.6019441T>G | CA383505939 | VWF | c.3977A>C (p.His1326Pro) n.421-25507A>C | |
12 | g.6019442G>A | CA383505941 | VWF | c.3976C>T (p.His1326Tyr) n.421-25508C>T | |
12 | g.6019442G>C | CA383505942 | VWF | c.3976C>G (p.His1326Asp) n.421-25508C>G | |
12 | g.6019442G>T | CA383505945 | VWF | c.3976C>A (p.His1326Asn) n.421-25508C>A | |
12 | g.6019444del | CA645595301 | VWF | c.3976del (p.His1326ThrfsTer22) n.421-25508del | COSMIC |
12 | g.6019443G>A | CA478502710 | VWF | c.3975C>T (p.Ser1325=) n.421-25509C>T | |
12 | g.6019443G>C | CA478502712 | VWF | c.3975C>G (p.Ser1325=) n.421-25509C>G | gnomAD v4 |
12 | g.6019443G>T | CA478502714 | VWF | c.3975C>A (p.Ser1325=) n.421-25509C>A | |
12 | g.6019444G>A | CA6402638 | VWF | c.3974C>T (p.Ser1325Phe) n.421-25510C>T | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
12 | g.6019444G>C | CA383505949 | VWF | c.3974C>G (p.Ser1325Cys) n.421-25510C>G | |
12 | g.6019444G= | CA2013872983 | VWF | c.3974C= (p.Ser1325=) n.421-25510C= | |
12 | g.6019444G>T | CA383505951 | VWF | c.3974C>A (p.Ser1325Tyr) n.421-25510C>A | |
12 | g.6019445A>C | CA383505954 | VWF | c.3973T>G (p.Ser1325Ala) n.421-25511T>G | |
12 | g.6019445A>G | CA383505958 | VWF | c.3973T>C (p.Ser1325Pro) n.421-25511T>C | |
12 | g.6019445A>T | CA383505955 | VWF | c.3973T>A (p.Ser1325Thr) n.421-25511T>A | |
12 | g.6019446G>A | CA478502729 | VWF | c.3972C>T (p.Gly1324=) n.421-25512C>T | |
12 | g.6019446G>C | CA478502728 | VWF | c.3972C>G (p.Gly1324=) n.421-25512C>G | |
12 | g.6019446G>T | CA478502726 | VWF | c.3972C>A (p.Gly1324=) n.421-25512C>A | |
12 | g.6019447C>A | CA383505961 | VWF | c.3971G>T (p.Gly1324Val) n.421-25513G>T | |
12 | g.6019447C= | CA2013872984 | VWF | c.3971G= (p.Gly1324=) n.421-25513G= | |
12 | g.6019447C>G | CA228508 | VWF | c.3971G>C (p.Gly1324Ala) n.421-25513G>C | ClinVar dbSNP |
12 | g.6019447C>T | CA383505964 | VWF | c.3971G>A (p.Gly1324Asp) n.421-25513G>A | |
12 | g.6019448C>A | CA383505967 | VWF | c.3970G>T (p.Gly1324Cys) n.421-25514G>T | |
12 | g.6019448C= | CA2013872985 | VWF | c.3970G= (p.Gly1324=) n.421-25514G= | |
12 | g.6019448C>G | CA383505969 | VWF | c.3970G>C (p.Gly1324Arg) n.421-25514G>C | |
12 | g.6019448C>T | CA114147 | VWF | c.3970G>A (p.Gly1324Ser) n.421-25514G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6019449G>A | CA6402640 | VWF | c.3969C>T (p.Asp1323=) n.421-25515C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6019449G>C | CA383505974 | VWF | c.3969C>G (p.Asp1323Glu) n.421-25515C>G | |
12 | g.6019449G= | CA2013872986 | VWF | c.3969C= (p.Asp1323=) n.421-25515C= | |
12 | g.6019449G>T | CA6402639 | VWF | c.3969C>A (p.Asp1323Glu) n.421-25515C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6019450T>A | CA383505981 | VWF | c.3968A>T (p.Asp1323Val) n.421-25516A>T | |
12 | g.6019450T>C | CA383505983 | VWF | c.3968A>G (p.Asp1323Gly) n.421-25516A>G | gnomAD v4 |
12 | g.6019450T>G | CA383505979 | VWF | c.3968A>C (p.Asp1323Ala) n.421-25516A>C | |
12 | g.6019451C>A | CA383505985 | VWF | c.3967G>T (p.Asp1323Tyr) n.421-25517G>T | |
12 | g.6019451C= | CA2013872987 | VWF | c.3967G= (p.Asp1323=) n.421-25517G= | |
12 | g.6019451C>G | CA383505987 | VWF | c.3967G>C (p.Asp1323His) n.421-25517G>C | dbSNP |
12 | g.6019451C>T | CA6402641 | VWF | c.3967G>A (p.Asp1323Asn) n.421-25517G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6019452G>A | CA6402642 | VWF | c.3966C>T (p.His1322=) n.421-25518C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6019452G>C | CA383505993 | VWF | c.3966C>G (p.His1322Gln) n.421-25518C>G | |
12 | g.6019452G= | CA2013872988 | VWF | c.3966C= (p.His1322=) n.421-25518C= | |
12 | g.6019452G>T | CA383505995 | VWF | c.3966C>A (p.His1322Gln) n.421-25518C>A | |
12 | g.6019454_6019456del | CA2695216045 | VWF | c.3964_3966del (p.His1322del) n.421-25520_421-25518del | |
12 | g.6019453T>A | CA383506001 | VWF | c.3965A>T (p.His1322Leu) n.421-25519A>T | |
12 | g.6019453T>C | CA383505997 | VWF | c.3965A>G (p.His1322Arg) n.421-25519A>G | |
12 | g.6019453T>G | CA383505999 | VWF | c.3965A>C (p.His1322Pro) n.421-25519A>C | ClinVar dbSNP |
12 | g.6019453T= | CA2013872989 | VWF | c.3965A= (p.His1322=) n.421-25519A= | |
12 | g.6019454G>A | CA6402643 | VWF | c.3964C>T (p.His1322Tyr) n.421-25520C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6019454G>C | CA383506005 | VWF | c.3964C>G (p.His1322Asp) n.421-25520C>G | gnomAD v4 |
12 | g.6019454G= | CA2013872990 | VWF | c.3964C= (p.His1322=) n.421-25520C= | |
12 | g.6019454G>T | CA383506007 | VWF | c.3964C>A (p.His1322Asn) n.421-25520C>A | gnomAD v4 |
12 | g.6019455G>A | CA478502770 | VWF | c.3963C>T (p.Tyr1321=) n.421-25521C>T | dbSNP |
12 | g.6019455G>C | CA383506010 | VWF | c.3963C>G (p.Tyr1321Ter) n.421-25521C>G | |
12 | g.6019455G= | CA2013872991 | VWF | c.3963C= (p.Tyr1321=) n.421-25521C= | |
12 | g.6019455G>T | CA383506011 | VWF | c.3963C>A (p.Tyr1321Ter) n.421-25521C>A | |
12 | g.6019456T>A | CA383506015 | VWF | c.3962A>T (p.Tyr1321Phe) n.421-25522A>T | |
12 | g.6019456T>C | CA383506019 | VWF | c.3962A>G (p.Tyr1321Cys) n.421-25522A>G | ClinVar dbSNP |
12 | g.6019456T>G | CA383506017 | VWF | c.3962A>C (p.Tyr1321Ser) n.421-25522A>C | |
12 | g.6019456T= | CA2013872992 | VWF | c.3962A= (p.Tyr1321=) n.421-25522A= | |
12 | g.6019457A>C | CA383506021 | VWF | c.3961T>G (p.Tyr1321Asp) n.421-25523T>G | |
12 | g.6019457A>G | CA383506024 | VWF | c.3961T>C (p.Tyr1321His) n.421-25523T>C | |
12 | g.6019457A>T | CA383506026 | VWF | c.3961T>A (p.Tyr1321Asn) n.421-25523T>A | |
12 | g.6019458C>A | CA383506028 | VWF | c.3960G>T (p.Glu1320Asp) n.421-25524G>T | |
12 | g.6019458C= | CA2013872993 | VWF | c.3960G= (p.Glu1320=) n.421-25524G= | |
12 | g.6019458C>G | CA383506030 | VWF | c.3960G>C (p.Glu1320Asp) n.421-25524G>C | |
12 | g.6019458C>T | CA478502778 | VWF | c.3960G>A (p.Glu1320=) n.421-25524G>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6019459T>A | CA383506033 | VWF | c.3959A>T (p.Glu1320Val) n.421-25525A>T | |
12 | g.6019459T>C | CA383506035 | VWF | c.3959A>G (p.Glu1320Gly) n.421-25525A>G | dbSNP |
12 | g.6019459T>G | CA383506036 | VWF | c.3959A>C (p.Glu1320Ala) n.421-25525A>C | |
12 | g.6019459T= | CA2013872994 | VWF | c.3959A= (p.Glu1320=) n.421-25525A= | |
12 | g.6019460C>A | CA383506038 | VWF | c.3958G>T (p.Glu1320Ter) n.421-25526G>T | |
12 | g.6019460C>G | CA383506039 | VWF | c.3958G>C (p.Glu1320Gln) n.421-25526G>C | |
12 | g.6019460C>T | CA383506041 | VWF | c.3958G>A (p.Glu1320Lys) n.421-25526G>A | |
12 | g.6019461C>A | CA478502780 | VWF | c.3957G>T (p.Val1319=) n.421-25527G>T | |
12 | g.6019461C= | CA2013872995 | VWF | c.3957G= (p.Val1319=) n.421-25527G= | |
12 | g.6019461C>G | CA478502782 | VWF | c.3957G>C (p.Val1319=) n.421-25527G>C | |
12 | g.6019461C>T | CA478502784 | VWF | c.3957G>A (p.Val1319=) n.421-25527G>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6019462A>C | CA383506046 | VWF | c.3956T>G (p.Val1319Gly) n.421-25528T>G | |
12 | g.6019462A>G | CA383506044 | VWF | c.3956T>C (p.Val1319Ala) n.421-25528T>C | |
12 | g.6019462A>T | CA383506042 | VWF | c.3956T>A (p.Val1319Glu) n.421-25528T>A | |
12 | g.6019463C>A | CA383506049 | VWF | c.3955G>T (p.Val1319Leu) n.421-25529G>T | |
12 | g.6019463C>G | CA383506053 | VWF | c.3955G>C (p.Val1319Leu) n.421-25529G>C | |
12 | g.6019463C>T | CA383506051 | VWF | c.3955G>A (p.Val1319Met) n.421-25529G>A | |
12 | g.6019464C>A | CA478502787 | VWF | c.3954G>T (p.Val1318=) n.421-25530G>T | |
12 | g.6019464C>G | CA478502788 | VWF | c.3954G>C (p.Val1318=) n.421-25530G>C | |
12 | g.6019464C>T | CA478502789 | VWF | c.3954G>A (p.Val1318=) n.421-25530G>A | |
12 | g.6019465A>C | CA383506056 | VWF | c.3953T>G (p.Val1318Gly) n.421-25531T>G | |
12 | g.6019465A>G | CA383506057 | VWF | c.3953T>C (p.Val1318Ala) n.421-25531T>C | |
12 | g.6019465A>T | CA383506059 | VWF | c.3953T>A (p.Val1318Glu) n.421-25531T>A | |
12 | g.6019466C>A | CA383506062 | VWF | c.3952G>T (p.Val1318Leu) n.421-25532G>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6019466C= | CA2013872996 | VWF | c.3952G= (p.Val1318=) n.421-25532G= | |
12 | g.6019466C>G | CA383506064 | VWF | c.3952G>C (p.Val1318Leu) n.421-25532G>C | |
12 | g.6019466C>T | CA6402644 | VWF | c.3952G>A (p.Val1318Met) n.421-25532G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6019467G>A | CA6402645 | VWF | c.3951C>T (p.Ala1317=) n.421-25533C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.6019467G>C | CA478502802 | VWF | c.3951C>G (p.Ala1317=) n.421-25533C>G | |
12 | g.6019467G= | CA2013872997 | VWF | c.3951C= (p.Ala1317=) n.421-25533C= | |
12 | g.6019467G>T | CA478502804 | VWF | c.3951C>A (p.Ala1317=) n.421-25533C>A | |
12 | g.6019468G>A | CA383506069 | VWF | c.3950C>T (p.Ala1317Val) n.421-25534C>T | |
12 | g.6019468G>C | CA383506071 | VWF | c.3950C>G (p.Ala1317Gly) n.421-25534C>G | |
12 | g.6019468G>T | CA383506072 | VWF | c.3950C>A (p.Ala1317Asp) n.421-25534C>A | |
12 | g.6019469C>A | CA383506075 | VWF | c.3949G>T (p.Ala1317Ser) n.421-25535G>T | |
12 | g.6019469C>G | CA383506077 | VWF | c.3949G>C (p.Ala1317Pro) n.421-25535G>C | |
12 | g.6019469C>T | CA383506079 | VWF | c.3949G>A (p.Ala1317Thr) n.421-25535G>A | |
12 | g.6019470C>A | CA478502814 | VWF | c.3948G>T (p.Val1316=) n.421-25536G>T | |
12 | g.6019470C>G | CA478502818 | VWF | c.3948G>C (p.Val1316=) n.421-25536G>C | |
12 | g.6019470C>T | CA478502820 | VWF | c.3948G>A (p.Val1316=) n.421-25536G>A | |
12 | g.6019471A>C | CA383506082 | VWF | c.3947T>G (p.Val1316Gly) n.421-25537T>G | |
12 | g.6019471A>G | CA383506086 | VWF | c.3947T>C (p.Val1316Ala) n.421-25537T>C | |
12 | g.6019471A>T | CA383506084 | VWF | c.3947T>A (p.Val1316Glu) n.421-25537T>A | |
12 | g.6019472C>A | CA383506089 | VWF | c.3946G>T (p.Val1316Leu) n.421-25538G>T | ClinVar dbSNP |
12 | g.6019472C= | CA2013872998 | VWF | c.3946G= (p.Val1316=) n.421-25538G= | |
12 | g.6019472C>G | CA6402646 | VWF | c.3946G>C (p.Val1316Leu) n.421-25538G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6019472C>T | CA114127 | VWF | c.3946G>A (p.Val1316Met) n.421-25538G>A | ClinVar dbSNP |
12 | g.6019473G>A | CA6402647 | VWF | c.3945C>T (p.Arg1315=) n.421-25539C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.6019473G>C | CA478502834 | VWF | c.3945C>G (p.Arg1315=) n.421-25539C>G | |
12 | g.6019473G= | CA2013872999 | VWF | c.3945C= (p.Arg1315=) n.421-25539C= | |
12 | g.6019473G>T | CA478502837 | VWF | c.3945C>A (p.Arg1315=) n.421-25539C>A | |
12 | g.6019474C>A | CA228506 | VWF | c.3944G>T (p.Arg1315Leu) n.421-25540G>T | ClinVar dbSNP |
12 | g.6019474C= | CA2013873000 | VWF | c.3944G= (p.Arg1315=) n.421-25540G= | |
12 | g.6019474C>G | CA383506096 | VWF | c.3944G>C (p.Arg1315Pro) n.421-25540G>C | |
12 | g.6019474C>T | CA228504 | VWF | c.3944G>A (p.Arg1315His) n.421-25540G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6019475G>A | CA228502 | VWF | c.3943C>T (p.Arg1315Cys) n.421-25541C>T | ClinVar dbSNP gnomAD v4 COSMIC |
12 | g.6019475G>C | CA383506100 | VWF | c.3943C>G (p.Arg1315Gly) n.421-25541C>G | |
12 | g.6019475G= | CA2013873001 | VWF | c.3943C= (p.Arg1315=) n.421-25541C= | |
12 | g.6019475G>T | CA383506103 | VWF | c.3943C>A (p.Arg1315Ser) n.421-25541C>A | gnomAD v4 |
12 | g.6019476G>A | CA478502847 | VWF | c.3942C>T (p.Val1314=) n.421-25542C>T | |
12 | g.6019476G>C | CA478502848 | VWF | c.3942C>G (p.Val1314=) n.421-25542C>G | |
12 | g.6019476G>T | CA478502849 | VWF | c.3942C>A (p.Val1314=) n.421-25542C>A | |
12 | g.6019477A= | CA2013873002 | VWF | c.3941T= (p.Val1314=) n.421-25543T= | |
12 | g.6019477A>C | CA383506108 | VWF | c.3941T>G (p.Val1314Gly) n.421-25543T>G | |
12 | g.6019477A>G | CA383506106 | VWF | c.3941T>C (p.Val1314Ala) n.421-25543T>C | |
12 | g.6019477A>T | CA228500 | VWF | c.3941T>A (p.Val1314Asp) n.421-25543T>A | ClinVar dbSNP |
12 | g.6019478C>A | CA228498 | VWF | c.3940G>T (p.Val1314Phe) n.421-25544G>T | ClinVar dbSNP |
12 | g.6019478C= | CA2013873003 | VWF | c.3940G= (p.Val1314=) n.421-25544G= | |
12 | g.6019478C>G | CA114151 | VWF | c.3940G>C (p.Val1314Leu) n.421-25544G>C | ClinVar dbSNP |
12 | g.6019478C>T | CA383506114 | VWF | c.3940G>A (p.Val1314Ile) n.421-25544G>A | gnomAD v4 |
12 | g.6019480del | CA2499221796 | VWF | c.3940del (p.Val1314SerfsTer?) n.421-25544del | ClinVar dbSNP |
12 | g.6019479C>A | CA383506117 | VWF | c.3939G>T (p.Trp1313Cys) n.421-25545G>T | |
12 | g.6019479C= | CA2013873004 | VWF | c.3939G= (p.Trp1313=) n.421-25545G= | |
12 | g.6019479C>G | CA114121 | VWF | c.3939G>C (p.Trp1313Cys) n.421-25545G>C | ClinVar dbSNP |
12 | g.6019479C>T | CA383506120 | VWF | c.3939G>A (p.Trp1313Ter) n.421-25545G>A | |
12 | g.6019480C>A | CA383506126 | VWF | c.3938G>T (p.Trp1313Leu) n.421-25546G>T | |
12 | g.6019480C>G | CA383506122 | VWF | c.3938G>C (p.Trp1313Ser) n.421-25546G>C | |
12 | g.6019480C>T | CA383506124 | VWF | c.3938G>A (p.Trp1313Ter) n.421-25546G>A | COSMIC |
12 | g.6019481A>C | CA383506129 | VWF | c.3937T>G (p.Trp1313Gly) n.421-25547T>G | |
12 | g.6019481A>G | CA383506131 | VWF | c.3937T>C (p.Trp1313Arg) n.421-25547T>C | |
12 | g.6019481A>T | CA383506133 | VWF | c.3937T>A (p.Trp1313Arg) n.421-25547T>A | |
12 | g.6019482C>A | CA383506136 | VWF | c.3936G>T (p.Lys1312Asn) n.421-25548G>T | ClinVar dbSNP gnomAD v4 |
12 | g.6019482C= | CA2013873005 | VWF | c.3936G= (p.Lys1312=) n.421-25548G= | |
12 | g.6019482C>G | CA383506138 | VWF | c.3936G>C (p.Lys1312Asn) n.421-25548G>C | |
12 | g.6019482C>T | CA478502876 | VWF | c.3936G>A (p.Lys1312=) n.421-25548G>A | gnomAD v4 |
12 | g.6019483T>A | CA383506140 | VWF | c.3935A>T (p.Lys1312Met) n.421-25549A>T | |
12 | g.6019483T>C | CA383506143 | VWF | c.3935A>G (p.Lys1312Arg) n.421-25549A>G | |
12 | g.6019483T>G | CA383506141 | VWF | c.3935A>C (p.Lys1312Thr) n.421-25549A>C | |
12 | g.6019484T>A | CA383506146 | VWF | c.3934A>T (p.Lys1312Ter) n.421-25550A>T | |
12 | g.6019484T>C | CA383506148 | VWF | c.3934A>G (p.Lys1312Glu) n.421-25550A>G | gnomAD v4 |
12 | g.6019484T>G | CA383506150 | VWF | c.3934A>C (p.Lys1312Gln) n.421-25550A>C | gnomAD v4 |
12 | g.6019485C>A | CA383506152 | VWF | c.3933G>T (p.Gln1311His) n.421-25551G>T | |
12 | g.6019485C>G | CA383506154 | VWF | c.3933G>C (p.Gln1311His) n.421-25551G>C | |
12 | g.6019485C>T | CA478502884 | VWF | c.3933G>A (p.Gln1311=) n.421-25551G>A | |
12 | g.6019486T>A | CA383506157 | VWF | c.3932A>T (p.Gln1311Leu) n.421-25552A>T | |
12 | g.6019486T>C | CA383506159 | VWF | c.3932A>G (p.Gln1311Arg) n.421-25552A>G | |
12 | g.6019486T>G | CA383506161 | VWF | c.3932A>C (p.Gln1311Pro) n.421-25552A>C | |
12 | g.6019487G>A | CA228496 | VWF | c.3931C>T (p.Gln1311Ter) n.421-25553C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6019487G>C | CA383506165 | VWF | c.3931C>G (p.Gln1311Glu) n.421-25553C>G | gnomAD v4 |
12 | g.6019487G= | CA2013873006 | VWF | c.3931C= (p.Gln1311=) n.421-25553C= | |
12 | g.6019487G>T | CA6402648 | VWF | c.3931C>A (p.Gln1311Lys) n.421-25553C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6019488G>A | CA478502893 | VWF | c.3930C>T (p.Ser1310=) n.421-25554C>T | gnomAD v4 |
12 | g.6019488G>C | CA478502895 | VWF | c.3930C>G (p.Ser1310=) n.421-25554C>G | |
12 | g.6019488G>T | CA478502898 | VWF | c.3930C>A (p.Ser1310=) n.421-25554C>A | |
12 | g.6019489G>A | CA228494 | VWF | c.3929C>T (p.Ser1310Phe) n.421-25555C>T | ClinVar dbSNP |
12 | g.6019489G>C | CA383506170 | VWF | c.3929C>G (p.Ser1310Cys) n.421-25555C>G | |
12 | g.6019489G= | CA2013873007 | VWF | c.3929C= (p.Ser1310=) n.421-25555C= | |
12 | g.6019489G>T | CA383506168 | VWF | c.3929C>A (p.Ser1310Tyr) n.421-25555C>A | |
12 | g.6019490A>C | CA383506174 | VWF | c.3928T>G (p.Ser1310Ala) n.421-25556T>G | |
12 | g.6019490A>G | CA383506177 | VWF | c.3928T>C (p.Ser1310Pro) n.421-25556T>C | ClinVar dbSNP |
12 | g.6019490A>T | CA383506176 | VWF | c.3928T>A (p.Ser1310Thr) n.421-25556T>A | |
12 | g.6019491G>A | CA478502910 | VWF | c.3927C>T (p.Ile1309=) n.421-25557C>T | dbSNP |
12 | g.6019491G>C | CA383506180 | VWF | c.3927C>G (p.Ile1309Met) n.421-25557C>G | |
12 | g.6019491G= | CA2013873008 | VWF | c.3927C= (p.Ile1309=) n.421-25557C= | |
12 | g.6019491G>T | CA478502912 | VWF | c.3927C>A (p.Ile1309=) n.421-25557C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6019492A>C | CA383506183 | VWF | c.3926T>G (p.Ile1309Ser) n.421-25558T>G | |
12 | g.6019492A>G | CA383506181 | VWF | c.3926T>C (p.Ile1309Thr) n.421-25558T>C | |
12 | g.6019492A>T | CA383506185 | VWF | c.3926T>A (p.Ile1309Asn) n.421-25558T>A | ClinVar dbSNP |
12 | g.6019493T>A | CA383506188 | VWF | c.3925A>T (p.Ile1309Phe) n.421-25559A>T | |
12 | g.6019493T>C | CA228492 | VWF | c.3925A>G (p.Ile1309Val) n.421-25559A>G | ClinVar dbSNP |
12 | g.6019493T>G | CA383506190 | VWF | c.3925A>C (p.Ile1309Leu) n.421-25559A>C | |
12 | g.6019493T= | CA2013873009 | VWF | c.3925A= (p.Ile1309=) n.421-25559A= | |
12 | g.6019494G>A | CA6402649 | VWF | c.3924C>T (p.Arg1308=) n.421-25560C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6019494G>C | CA478502922 | VWF | c.3924C>G (p.Arg1308=) n.421-25560C>G | |
12 | g.6019494G= | CA2013873010 | VWF | c.3924C= (p.Arg1308=) n.421-25560C= | |
12 | g.6019494G>T | CA478502924 | VWF | c.3924C>A (p.Arg1308=) n.421-25560C>A | |
12 | g.6019495C>A | CA6402650 | VWF | c.3923G>T (p.Arg1308Leu) n.421-25561G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6019495C= | CA2013873011 | VWF | c.3923G= (p.Arg1308=) n.421-25561G= | |
12 | g.6019495C>G | CA228490 | VWF | c.3923G>C (p.Arg1308Pro) n.421-25561G>C | ClinVar dbSNP |
12 | g.6019495C>T | CA228488 | VWF | c.3923G>A (p.Arg1308His) n.421-25561G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
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 |