Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.6044304C>A | CA383521906 | VWF | c.2429G>T (p.Cys810Phe) n.421-50370G>T | |
12 | g.6044304C>G | CA383521908 | VWF | c.2429G>C (p.Cys810Ser) n.421-50370G>C | |
12 | g.6044304C>T | CA383521907 | VWF | c.2429G>A (p.Cys810Tyr) n.421-50370G>A | |
12 | g.6044305A>C | CA383521909 | VWF | c.2428T>G (p.Cys810Gly) n.421-50371T>G | |
12 | g.6044305A>G | CA383521910 | VWF | c.2428T>C (p.Cys810Arg) n.421-50371T>C | |
12 | g.6044305A>T | CA383521911 | VWF | c.2428T>A (p.Cys810Ser) n.421-50371T>A | |
12 | g.6044306G>A | CA478103292 | VWF | c.2427C>T (p.Leu809=) n.421-50372C>T | |
12 | g.6044306G>C | CA478103293 | VWF | c.2427C>G (p.Leu809=) n.421-50372C>G | |
12 | g.6044306G>T | CA478103294 | VWF | c.2427C>A (p.Leu809=) n.421-50372C>A | |
12 | g.6044307A>C | CA383521915 | VWF | c.2426T>G (p.Leu809Arg) n.421-50373T>G | |
12 | g.6044307A>G | CA383521916 | VWF | c.2426T>C (p.Leu809Pro) n.421-50373T>C | |
12 | g.6044307A>T | CA383521917 | VWF | c.2426T>A (p.Leu809His) n.421-50373T>A | |
12 | g.6044308G>A | CA383521918 | VWF | c.2425C>T (p.Leu809Phe) n.421-50374C>T | gnomAD v4 |
12 | g.6044308G>C | CA383521919 | VWF | c.2425C>G (p.Leu809Val) n.421-50374C>G | |
12 | g.6044308G>T | CA383521920 | VWF | c.2425C>A (p.Leu809Ile) n.421-50374C>A | |
12 | g.6044309G>A | CA478103296 | VWF | c.2424C>T (p.Cys808=) n.421-50375C>T | |
12 | g.6044309G>C | CA383521923 | VWF | c.2424C>G (p.Cys808Trp) n.421-50375C>G | |
12 | g.6044309G= | CA2013884541 | VWF | c.2424C= (p.Cys808=) n.421-50375C= | |
12 | g.6044309G>T | CA383521924 | VWF | c.2424C>A (p.Cys808Ter) n.421-50375C>A | |
12 | g.6044309_6044310insAAGCCAGAGA | CA603103436 | VWF | c.2423_2424insTCTCTGGCTT (p.Cys810TrpfsTer12) n.421-50376_421-50375insTCTCTGGCTT | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6044310C>A | CA383521927 | VWF | c.2423G>T (p.Cys808Phe) n.421-50376G>T | |
12 | g.6044310C>G | CA383521930 | VWF | c.2423G>C (p.Cys808Ser) n.421-50376G>C | gnomAD v4 |
12 | g.6044310C>T | CA383521928 | VWF | c.2423G>A (p.Cys808Tyr) n.421-50376G>A | |
12 | g.6044311A>C | CA383521932 | VWF | c.2422T>G (p.Cys808Gly) n.421-50377T>G | |
12 | g.6044311A>G | CA383521934 | VWF | c.2422T>C (p.Cys808Arg) n.421-50377T>C | |
12 | g.6044311A>T | CA383521937 | VWF | c.2422T>A (p.Cys808Ser) n.421-50377T>A | |
12 | g.6044312G>A | CA478103298 | VWF | c.2421C>T (p.Gly807=) n.421-50378C>T | gnomAD v4 |
12 | g.6044312G>C | CA478103299 | VWF | c.2421C>G (p.Gly807=) n.421-50378C>G | |
12 | g.6044312G>T | CA478103300 | VWF | c.2421C>A (p.Gly807=) n.421-50378C>A | |
12 | g.6044313C>A | CA383521939 | VWF | c.2420G>T (p.Gly807Val) n.421-50379G>T | |
12 | g.6044313C>G | CA383521941 | VWF | c.2420G>C (p.Gly807Ala) n.421-50379G>C | |
12 | g.6044313C>T | CA383521943 | VWF | c.2420G>A (p.Gly807Asp) n.421-50379G>A | |
12 | g.6044314C>A | CA383521945 | VWF | c.2419G>T (p.Gly807Cys) n.421-50380G>T | |
12 | g.6044314C>G | CA383521947 | VWF | c.2419G>C (p.Gly807Arg) n.421-50380G>C | |
12 | g.6044314C>T | CA383521948 | VWF | c.2419G>A (p.Gly807Ser) n.421-50380G>A | |
12 | g.6044315A>C | CA478103301 | VWF | c.2418T>G (p.Ser806=) n.421-50381T>G | |
12 | g.6044315A>G | CA478103302 | VWF | c.2418T>C (p.Ser806=) n.421-50381T>C | |
12 | g.6044315A>T | CA478103304 | VWF | c.2418T>A (p.Ser806=) n.421-50381T>A | |
12 | g.6044318_6044319del | CA2695215959 | VWF | c.2417_2418del (p.Ser806TrpfsTer12) n.421-50382_421-50381del | |
12 | g.6044316G>A | CA383521952 | VWF | c.2417C>T (p.Ser806Phe) n.421-50382C>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6044316G>C | CA383521954 | VWF | c.2417C>G (p.Ser806Cys) n.421-50382C>G | |
12 | g.6044316G= | CA2013884542 | VWF | c.2417C= (p.Ser806=) n.421-50382C= | |
12 | g.6044316G>T | CA383521950 | VWF | c.2417C>A (p.Ser806Tyr) n.421-50382C>A | |
12 | g.6044317A>C | CA383521956 | VWF | c.2416T>G (p.Ser806Ala) n.421-50383T>G | |
12 | g.6044317A>G | CA383521958 | VWF | c.2416T>C (p.Ser806Pro) n.421-50383T>C | |
12 | g.6044317A>T | CA383521960 | VWF | c.2416T>A (p.Ser806Thr) n.421-50383T>A | |
12 | g.6044318G>A | CA478103305 | VWF | c.2415C>T (p.Val805=) n.421-50384C>T | |
12 | g.6044318G>C | CA478103307 | VWF | c.2415C>G (p.Val805=) n.421-50384C>G | dbSNP gnomAD v4 |
12 | g.6044318G= | CA2013884543 | VWF | c.2415C= (p.Val805=) n.421-50384C= | |
12 | g.6044318G>T | CA478103306 | VWF | c.2415C>A (p.Val805=) n.421-50384C>A | |
12 | g.6044319A>C | CA383521961 | VWF | c.2414T>G (p.Val805Gly) n.421-50385T>G | |
12 | g.6044319A>G | CA383521963 | VWF | c.2414T>C (p.Val805Ala) n.421-50385T>C | |
12 | g.6044319A>T | CA383521965 | VWF | c.2414T>A (p.Val805Asp) n.421-50385T>A | |
12 | g.6044320C>A | CA383521966 | VWF | c.2413G>T (p.Val805Phe) n.421-50386G>T | |
12 | g.6044320C= | CA2013884544 | VWF | c.2413G= (p.Val805=) n.421-50386G= | |
12 | g.6044320C>G | CA383521969 | VWF | c.2413G>C (p.Val805Leu) n.421-50386G>C | |
12 | g.6044320C>T | CA383521972 | VWF | c.2413G>A (p.Val805Ile) n.421-50386G>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6044321A>C | CA383521974 | VWF | c.2412T>G (p.Cys804Trp) n.421-50387T>G | |
12 | g.6044321A>G | CA478103308 | VWF | c.2412T>C (p.Cys804=) n.421-50387T>C | |
12 | g.6044321A>T | CA383521977 | VWF | c.2412T>A (p.Cys804Ter) n.421-50387T>A | |
12 | g.6044322C>A | CA114168 | VWF | c.2411G>T (p.Cys804Phe) n.421-50388G>T | ClinVar dbSNP |
12 | g.6044322C= | CA2013884545 | VWF | c.2411G= (p.Cys804=) n.421-50388G= | |
12 | g.6044322C>G | CA383521981 | VWF | c.2411G>C (p.Cys804Ser) n.421-50388G>C | |
12 | g.6044322C>T | CA383521979 | VWF | c.2411G>A (p.Cys804Tyr) n.421-50388G>A | |
12 | g.6044323A>C | CA383521982 | VWF | c.2410T>G (p.Cys804Gly) n.421-50389T>G | |
12 | g.6044323A>G | CA383521984 | VWF | c.2410T>C (p.Cys804Arg) n.421-50389T>C | |
12 | g.6044323A>T | CA383521986 | VWF | c.2410T>A (p.Cys804Ser) n.421-50389T>A | |
12 | g.6044324G>A | CA478103309 | VWF | c.2409C>T (p.Gly803=) n.421-50390C>T | |
12 | g.6044324G>C | CA232300399 | VWF | c.2409C>G (p.Gly803=) n.421-50390C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6044324G= | CA2013884546 | VWF | c.2409C= (p.Gly803=) n.421-50390C= | |
12 | g.6044324G>T | CA478103310 | VWF | c.2409C>A (p.Gly803=) n.421-50390C>A | |
12 | g.6044325C>A | CA383521991 | VWF | c.2408G>T (p.Gly803Val) n.421-50391G>T | |
12 | g.6044325C= | CA2013884547 | VWF | c.2408G= (p.Gly803=) n.421-50391G= | |
12 | g.6044325C>G | CA383521992 | VWF | c.2408G>C (p.Gly803Ala) n.421-50391G>C | |
12 | g.6044325C>T | CA383521993 | VWF | c.2408G>A (p.Gly803Asp) n.421-50391G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.6044326C>A | CA383521994 | VWF | c.2407G>T (p.Gly803Cys) n.421-50392G>T | |
12 | g.6044326C>G | CA383521995 | VWF | c.2407G>C (p.Gly803Arg) n.421-50392G>C | gnomAD v4 |
12 | g.6044326C>T | CA383521997 | VWF | c.2407G>A (p.Gly803Ser) n.421-50392G>A | |
12 | g.6044327C>A | CA383521999 | VWF | c.2406G>T (p.Met802Ile) n.421-50393G>T | |
12 | g.6044327C>G | CA383522001 | VWF | c.2406G>C (p.Met802Ile) n.421-50393G>C | |
12 | g.6044327C>T | CA383522003 | VWF | c.2406G>A (p.Met802Ile) n.421-50393G>A | |
12 | g.6044328A= | CA2013884548 | VWF | c.2405T= (p.Met802=) n.421-50394T= | |
12 | g.6044328A>C | CA383522007 | VWF | c.2405T>G (p.Met802Arg) n.421-50394T>G | |
12 | g.6044328A>G | CA383522008 | VWF | c.2405T>C (p.Met802Thr) n.421-50394T>C | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6044328A>T | CA383522005 | VWF | c.2405T>A (p.Met802Lys) n.421-50394T>A | |
12 | g.6044329T>A | CA383522014 | VWF | c.2404A>T (p.Met802Leu) n.421-50395A>T | dbSNP gnomAD v4 |
12 | g.6044329T>C | CA383522010 | VWF | c.2404A>G (p.Met802Val) n.421-50395A>G | |
12 | g.6044329T>G | CA383522012 | VWF | c.2404A>C (p.Met802Leu) n.421-50395A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6044329T= | CA2013884549 | VWF | c.2404A= (p.Met802=) n.421-50395A= | |
12 | g.6044330G>A | CA478103312 | VWF | c.2403C>T (p.Ser801=) n.421-50396C>T | |
12 | g.6044330G>C | CA383522016 | VWF | c.2403C>G (p.Ser801Arg) n.421-50396C>G | |
12 | g.6044330G>T | CA383522018 | VWF | c.2403C>A (p.Ser801Arg) n.421-50396C>A | |
12 | g.6044331C>A | CA383522020 | VWF | c.2402G>T (p.Ser801Ile) n.421-50397G>T | |
12 | g.6044331C>G | CA383522022 | VWF | c.2402G>C (p.Ser801Thr) n.421-50397G>C | gnomAD v4 |
12 | g.6044331C>T | CA383522023 | VWF | c.2402G>A (p.Ser801Asn) n.421-50397G>A | gnomAD v4 |
12 | g.6044332T>A | CA383522025 | VWF | c.2401A>T (p.Ser801Cys) n.421-50398A>T | |
12 | g.6044332T>C | CA383522027 | VWF | c.2401A>G (p.Ser801Gly) n.421-50398A>G | |
12 | g.6044332T>G | CA383522028 | VWF | c.2401A>C (p.Ser801Arg) n.421-50398A>C | |
12 | g.6044333C>A | CA383522031 | VWF | c.2400G>T (p.Met800Ile) n.421-50399G>T | |
12 | g.6044333C>G | CA383522033 | VWF | c.2400G>C (p.Met800Ile) n.421-50399G>C | |
12 | g.6044333C>T | CA383522035 | VWF | c.2400G>A (p.Met800Ile) n.421-50399G>A | |
12 | g.6044335_6044338dup | CA2499221820 | VWF | c.2397_2400dup (p.Ser801HisfsTer19) n.421-50402_421-50399dup | ClinVar dbSNP |
12 | g.6044334A= | CA2013884550 | VWF | c.2399T= (p.Met800=) n.421-50400T= | |
12 | g.6044334A>C | CA383522040 | VWF | c.2399T>G (p.Met800Arg) n.421-50400T>G | gnomAD v4 |
12 | g.6044334A>G | CA232300400 | VWF | c.2399T>C (p.Met800Thr) n.421-50400T>C | dbSNP |
12 | g.6044334A>T | CA383522038 | VWF | c.2399T>A (p.Met800Lys) n.421-50400T>A | |
12 | g.6044335T>A | CA6403083 | VWF | c.2398A>T (p.Met800Leu) n.421-50401A>T | dbSNP ExAC gnomAD v2 |
12 | g.6044335T>C | CA228338 | VWF | c.2398A>G (p.Met800Val) n.421-50401A>G | ClinVar dbSNP |
12 | g.6044335T>G | CA383522043 | VWF | c.2398A>C (p.Met800Leu) n.421-50401A>C | |
12 | g.6044335T= | CA2013884551 | VWF | c.2398A= (p.Met800=) n.421-50401A= | |
12 | g.6044336G>A | CA232300401 | VWF | c.2397C>T (p.Cys799=) n.421-50402C>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6044336G>C | CA383522044 | VWF | c.2397C>G (p.Cys799Trp) n.421-50402C>G | |
12 | g.6044336G= | CA2013884552 | VWF | c.2397C= (p.Cys799=) n.421-50402C= | |
12 | g.6044336G>T | CA383522045 | VWF | c.2397C>A (p.Cys799Ter) n.421-50402C>A | |
12 | g.6044337C>A | CA383522046 | VWF | c.2396G>T (p.Cys799Phe) n.421-50403G>T | gnomAD v4 |
12 | g.6044337C= | CA2013884553 | VWF | c.2396G= (p.Cys799=) n.421-50403G= | |
12 | g.6044337C>G | CA383522047 | VWF | c.2396G>C (p.Cys799Ser) n.421-50403G>C | |
12 | g.6044337C>T | CA232300402 | VWF | c.2396G>A (p.Cys799Tyr) n.421-50403G>A | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6044338_6044341dup | CA2499221821 | VWF | c.2393_2396dup (p.Cys799Ter) n.421-50406_421-50403dup | ClinVar dbSNP |
12 | g.6044338A>C | CA383522048 | VWF | c.2395T>G (p.Cys799Gly) n.421-50404T>G | |
12 | g.6044338A>G | CA383522049 | VWF | c.2395T>C (p.Cys799Arg) n.421-50404T>C | |
12 | g.6044338A>T | CA383522050 | VWF | c.2395T>A (p.Cys799Ser) n.421-50404T>A | |
12 | g.6044339C>A | CA383522051 | VWF | c.2394G>T (p.Glu798Asp) n.421-50405G>T | |
12 | g.6044339C>G | CA383522052 | VWF | c.2394G>C (p.Glu798Asp) n.421-50405G>C | |
12 | g.6044339C>T | CA478103316 | VWF | c.2394G>A (p.Glu798=) n.421-50405G>A | gnomAD v4 |
12 | g.6044340T>A | CA383522053 | VWF | c.2393A>T (p.Glu798Val) n.421-50406A>T | |
12 | g.6044340T>C | CA383522054 | VWF | c.2393A>G (p.Glu798Gly) n.421-50406A>G | |
12 | g.6044340T>G | CA383522055 | VWF | c.2393A>C (p.Glu798Ala) n.421-50406A>C | gnomAD v4 |
12 | g.6044341C>A | CA383522056 | VWF | c.2392G>T (p.Glu798Ter) n.421-50407G>T | |
12 | g.6044341C>G | CA383522057 | VWF | c.2392G>C (p.Glu798Gln) n.421-50407G>C | |
12 | g.6044341C>T | CA383522058 | VWF | c.2392G>A (p.Glu798Lys) n.421-50407G>A | COSMIC |
12 | g.6044342C>A | CA478103318 | VWF | c.2391G>T (p.Leu797=) n.421-50408G>T | |
12 | g.6044342C>G | CA478103319 | VWF | c.2391G>C (p.Leu797=) n.421-50408G>C | |
12 | g.6044342C>T | CA478103320 | VWF | c.2391G>A (p.Leu797=) n.421-50408G>A | |
12 | g.6044343A= | CA2013884554 | VWF | c.2390T= (p.Leu797=) n.421-50409T= | |
12 | g.6044343A>C | CA383522061 | VWF | c.2390T>G (p.Leu797Arg) n.421-50409T>G | dbSNP gnomAD v4 |
12 | g.6044343A>G | CA383522059 | VWF | c.2390T>C (p.Leu797Pro) n.421-50409T>C | |
12 | g.6044343A>T | CA383522060 | VWF | c.2390T>A (p.Leu797Gln) n.421-50409T>A | |
12 | g.6044344G>A | CA6403084 | VWF | c.2389C>T (p.Leu797=) n.421-50410C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6044344G>C | CA383522062 | VWF | c.2389C>G (p.Leu797Val) n.421-50410C>G | |
12 | g.6044344G= | CA2013884555 | VWF | c.2389C= (p.Leu797=) n.421-50410C= | |
12 | g.6044344G>T | CA383522063 | VWF | c.2389C>A (p.Leu797Met) n.421-50410C>A | |
12 | g.6044345G>A | CA478103321 | VWF | c.2388C>T (p.Asp796=) n.421-50411C>T | gnomAD v4 |
12 | g.6044345G>C | CA383522064 | VWF | c.2388C>G (p.Asp796Glu) n.421-50411C>G | |
12 | g.6044345G= | CA2013884556 | VWF | c.2388C= (p.Asp796=) n.421-50411C= | |
12 | g.6044345G>T | CA6403085 | VWF | c.2388C>A (p.Asp796Glu) n.421-50411C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6044346T>A | CA383522065 | VWF | c.2387A>T (p.Asp796Val) n.421-50412A>T | |
12 | g.6044346T>C | CA383522067 | VWF | c.2387A>G (p.Asp796Gly) n.421-50412A>G | |
12 | g.6044346T>G | CA383522066 | VWF | c.2387A>C (p.Asp796Ala) n.421-50412A>C | |
12 | g.6044347C>A | CA383522070 | VWF | c.2386G>T (p.Asp796Tyr) n.421-50413G>T | |
12 | g.6044347C= | CA2013884557 | VWF | c.2386G= (p.Asp796=) n.421-50413G= | |
12 | g.6044347C>G | CA383522072 | VWF | c.2386G>C (p.Asp796His) n.421-50413G>C | |
12 | g.6044347C>T | CA6403086 | VWF | c.2386G>A (p.Asp796Asn) n.421-50413G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6044348A= | CA1630855466 | VWF | c.2385T= (p.Tyr795=) n.421-50414T= | |
12 | g.6044348A>C | CA383522074 | VWF | c.2385T>G (p.Tyr795Ter) n.421-50414T>G | |
12 | g.6044348A>G | CA6403087 | VWF | c.2385T>C (p.Tyr795=) n.421-50414T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6044348A>T | CA383522077 | VWF | c.2385T>A (p.Tyr795Ter) n.421-50414T>A | |
12 | g.6044349T>A | CA383522079 | VWF | c.2384A>T (p.Tyr795Phe) n.421-50415A>T | |
12 | g.6044349T>C | CA114166 | VWF | c.2384A>G (p.Tyr795Cys) n.421-50415A>G | ClinVar dbSNP gnomAD v4 |
12 | g.6044349T>G | CA383522081 | VWF | c.2384A>C (p.Tyr795Ser) n.421-50415A>C | dbSNP |
12 | g.6044349T= | CA2013884558 | VWF | c.2384A= (p.Tyr795=) n.421-50415A= | |
12 | g.6044350A>C | CA383522083 | VWF | c.2383T>G (p.Tyr795Asp) n.421-50416T>G | |
12 | g.6044350A>G | CA383522085 | VWF | c.2383T>C (p.Tyr795His) n.421-50416T>C | gnomAD v4 |
12 | g.6044350A>T | CA383522087 | VWF | c.2383T>A (p.Tyr795Asn) n.421-50416T>A | |
12 | g.6044351G>A | CA478103326 | VWF | c.2382C>T (p.Asn794=) n.421-50417C>T | |
12 | g.6044351G>C | CA383522091 | VWF | c.2382C>G (p.Asn794Lys) n.421-50417C>G | |
12 | g.6044351G>T | CA383522089 | VWF | c.2382C>A (p.Asn794Lys) n.421-50417C>A | |
12 | g.6044352T>A | CA383522093 | VWF | c.2381A>T (p.Asn794Ile) n.421-50418A>T | |
12 | g.6044352T>C | CA383522096 | VWF | c.2381A>G (p.Asn794Ser) n.421-50418A>G | |
12 | g.6044352T>G | CA6403088 | VWF | c.2381A>C (p.Asn794Thr) n.421-50418A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6044352T= | CA2013884559 | VWF | c.2381A= (p.Asn794=) n.421-50418A= | |
12 | g.6044353dup | CA645575765 | VWF | c.2381dup (p.Asn794LysfsTer3) n.421-50418dup | COSMIC |
12 | g.6044353T>A | CA383522098 | VWF | c.2380A>T (p.Asn794Tyr) n.421-50419A>T | |
12 | g.6044353T>C | CA383522102 | VWF | c.2380A>G (p.Asn794Asp) n.421-50419A>G | |
12 | g.6044353T>G | CA383522100 | VWF | c.2380A>C (p.Asn794His) n.421-50419A>C | |
12 | g.6044354C>A | CA383522104 | VWF | c.2379G>T (p.Gln793His) n.421-50420G>T | |
12 | g.6044354C>G | CA383522106 | VWF | c.2379G>C (p.Gln793His) n.421-50420G>C | |
12 | g.6044354C>T | CA478103328 | VWF | c.2379G>A (p.Gln793=) n.421-50420G>A | |
12 | g.6044355T>A | CA383522108 | VWF | c.2378A>T (p.Gln793Leu) n.421-50421A>T | |
12 | g.6044355T>C | CA383522110 | VWF | c.2378A>G (p.Gln793Arg) n.421-50421A>G | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6044355T>G | CA383522111 | VWF | c.2378A>C (p.Gln793Pro) n.421-50421A>C | |
12 | g.6044355T= | CA2013884560 | VWF | c.2378A= (p.Gln793=) n.421-50421A= | |
12 | g.6044356G>A | CA383522113 | VWF | c.2377C>T (p.Gln793Ter) n.421-50422C>T | ClinVar dbSNP |
12 | g.6044356G>C | CA383522115 | VWF | c.2377C>G (p.Gln793Glu) n.421-50422C>G | |
12 | g.6044356G>T | CA383522117 | VWF | c.2377C>A (p.Gln793Lys) n.421-50422C>A | |
12 | g.6044357G>A | CA478103329 | VWF | c.2376C>T (p.Cys792=) n.421-50423C>T | |
12 | g.6044357G>C | CA383522119 | VWF | c.2376C>G (p.Cys792Trp) n.421-50423C>G | ClinVar dbSNP |
12 | g.6044357G>T | CA383522121 | VWF | c.2376C>A (p.Cys792Ter) n.421-50423C>A | |
12 | g.6044358C>A | CA383522123 | VWF | c.2375G>T (p.Cys792Phe) n.421-50424G>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6044358C= | CA2013884561 | VWF | c.2375G= (p.Cys792=) n.421-50424G= | |
12 | g.6044358C>G | CA383522125 | VWF | c.2375G>C (p.Cys792Ser) n.421-50424G>C | |
12 | g.6044358C>T | CA383522127 | VWF | c.2375G>A (p.Cys792Tyr) n.421-50424G>A | |
12 | g.6044359A>C | CA383522132 | VWF | c.2374T>G (p.Cys792Gly) n.421-50425T>G | |
12 | g.6044359A>G | CA383522130 | VWF | c.2374T>C (p.Cys792Arg) n.421-50425T>C | ClinVar |
12 | g.6044359A>T | CA383522129 | VWF | c.2374T>A (p.Cys792Ser) n.421-50425T>A | |
12 | g.6044360C>A | CA478103330 | VWF | c.2373G>T (p.Thr791=) n.421-50426G>T | |
12 | g.6044360C= | CA2013884562 | VWF | c.2373G= (p.Thr791=) n.421-50426G= | |
12 | g.6044360C>G | CA478103331 | VWF | c.2373G>C (p.Thr791=) n.421-50426G>C | |
12 | g.6044360C>T | CA478103332 | VWF | c.2373G>A (p.Thr791=) n.421-50426G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6044361G>A | CA114135 | VWF | c.2372C>T (p.Thr791Met) n.421-50427C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6044361G>C | CA383522135 | VWF | c.2372C>G (p.Thr791Arg) n.421-50427C>G | |
12 | g.6044361G= | CA2013884563 | VWF | c.2372C= (p.Thr791=) n.421-50427C= | |
12 | g.6044361G>T | CA383522137 | VWF | c.2372C>A (p.Thr791Lys) n.421-50427C>A | |
12 | g.6044362T>A | CA383522139 | VWF | c.2371A>T (p.Thr791Ser) n.421-50428A>T | |
12 | g.6044362T>C | CA6403089 | VWF | c.2371A>G (p.Thr791Ala) n.421-50428A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6044362T>G | CA383522141 | VWF | c.2371A>C (p.Thr791Pro) n.421-50428A>C | |
12 | g.6044362T= | CA2013884564 | VWF | c.2371A= (p.Thr791=) n.421-50428A= | |
12 | g.6044363T>A | CA383522144 | VWF | c.2370A>T (p.Lys790Asn) n.421-50429A>T | |
12 | g.6044363T>C | CA478103334 | VWF | c.2370A>G (p.Lys790=) n.421-50429A>G | |
12 | g.6044363T>G | CA383522145 | VWF | c.2370A>C (p.Lys790Asn) n.421-50429A>C | ClinVar dbSNP |
12 | g.6044363T= | CA2013884565 | VWF | c.2370A= (p.Lys790=) n.421-50429A= | |
12 | g.6044364T>A | CA383522147 | VWF | c.2369A>T (p.Lys790Ile) n.421-50430A>T | |
12 | g.6044364T>C | CA383522149 | VWF | c.2369A>G (p.Lys790Arg) n.421-50430A>G | gnomAD v4 |
12 | g.6044364T>G | CA383522151 | VWF | c.2369A>C (p.Lys790Thr) n.421-50430A>C | |
12 | g.6044365T>A | CA383522157 | VWF | c.2368A>T (p.Lys790Ter) n.421-50431A>T | |
12 | g.6044365T>C | CA383522155 | VWF | c.2368A>G (p.Lys790Glu) n.421-50431A>G | |
12 | g.6044365T>G | CA383522153 | VWF | c.2368A>C (p.Lys790Gln) n.421-50431A>C | |
12 | g.6044366G>A | CA478103337 | VWF | c.2367C>T (p.Thr789=) n.421-50432C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6044366G>C | CA478103335 | VWF | c.2367C>G (p.Thr789=) n.421-50432C>G | |
12 | g.6044366G= | CA2013884566 | VWF | c.2367C= (p.Thr789=) n.421-50432C= | |
12 | g.6044366G>T | CA478103336 | VWF | c.2367C>A (p.Thr789=) n.421-50432C>A | |
12 | g.6044367G>A | CA383522159 | VWF | c.2366C>T (p.Thr789Ile) n.421-50433C>T | |
12 | g.6044367G>C | CA383522161 | VWF | c.2366C>G (p.Thr789Ser) n.421-50433C>G | |
12 | g.6044367G>T | CA383522162 | VWF | c.2366C>A (p.Thr789Asn) n.421-50433C>A | |
12 | g.6044368T>A | CA383522165 | VWF | c.2365A>T (p.Thr789Ser) n.421-50434A>T | |
12 | g.6044368T>C | CA6403090 | VWF | c.2365A>G (p.Thr789Ala) n.421-50434A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6044368T>G | CA228336 | VWF | c.2365A>C (p.Thr789Pro) n.421-50434A>C | ClinVar dbSNP |
12 | g.6044368T= | CA1630855467 | VWF | c.2365A= (p.Thr789=) n.421-50434A= | |
12 | g.6044369A>C | CA383522169 | VWF | c.2364T>G (p.Cys788Trp) n.421-50435T>G | |
12 | g.6044369A>G | CA478103339 | VWF | c.2364T>C (p.Cys788=) n.421-50435T>C | |
12 | g.6044369A>T | CA383522171 | VWF | c.2364T>A (p.Cys788Ter) n.421-50435T>A | |
12 | g.6044370C>A | CA383522173 | VWF | c.2363G>T (p.Cys788Phe) n.421-50436G>T | dbSNP |
12 | g.6044370C= | CA2013884567 | VWF | c.2363G= (p.Cys788=) n.421-50436G= | |
12 | g.6044370C>G | CA383522175 | VWF | c.2363G>C (p.Cys788Ser) n.421-50436G>C | |
12 | g.6044370C>T | CA228334 | VWF | c.2363G>A (p.Cys788Tyr) n.421-50436G>A | ClinVar dbSNP gnomAD v4 |
12 | g.6044371A= | CA2013884568 | VWF | c.2362T= (p.Cys788=) n.421-50437T= | |
12 | g.6044371A>C | CA383522188 | VWF | c.2362T>G (p.Cys788Gly) n.421-50437T>G | |
12 | g.6044371A>G | CA228332 | VWF | c.2362T>C (p.Cys788Arg) n.421-50437T>C | ClinVar dbSNP |
12 | g.6044371A>T | CA383522180 | VWF | c.2362T>A (p.Cys788Ser) n.421-50437T>A | |
12 | g.6044372C>A | CA383522192 | VWF | c.2361G>T (p.Glu787Asp) n.421-50438G>T | |
12 | g.6044372C= | CA2013884569 | VWF | c.2361G= (p.Glu787=) n.421-50438G= | |
12 | g.6044372C>G | CA383522195 | VWF | c.2361G>C (p.Glu787Asp) n.421-50438G>C | |
12 | g.6044372C>T | CA478103340 | VWF | c.2361G>A (p.Glu787=) n.421-50438G>A | dbSNP |
12 | g.6044373T>A | CA383522197 | VWF | c.2360A>T (p.Glu787Val) n.421-50439A>T | |
12 | g.6044373T>C | CA383522199 | VWF | c.2360A>G (p.Glu787Gly) n.421-50439A>G | dbSNP gnomAD v4 |
12 | g.6044373T>G | CA383522201 | VWF | c.2360A>C (p.Glu787Ala) n.421-50439A>C | |
12 | g.6044373T= | CA2013884570 | VWF | c.2360A= (p.Glu787=) n.421-50439A= | |
12 | g.6044374C>A | CA383522205 | VWF | c.2359G>T (p.Glu787Ter) n.421-50440G>T | gnomAD v4 |
12 | g.6044374C= | CA2013884571 | VWF | c.2359G= (p.Glu787=) n.421-50440G= | |
12 | g.6044374C>G | CA383522209 | VWF | c.2359G>C (p.Glu787Gln) n.421-50440G>C | gnomAD v4 |
12 | g.6044374C>T | CA228330 | VWF | c.2359G>A (p.Glu787Lys) n.421-50440G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6044375G>A | CA478103343 | VWF | c.2358C>T (p.Leu786=) n.421-50441C>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6044375G>C | CA6403091 | VWF | c.2358C>G (p.Leu786=) n.421-50441C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6044375G= | CA2013884572 | VWF | c.2358C= (p.Leu786=) n.421-50441C= | |
12 | g.6044375G>T | CA478103344 | VWF | c.2358C>A (p.Leu786=) n.421-50441C>A | gnomAD v4 |
12 | g.6044376A>C | CA383522216 | VWF | c.2357T>G (p.Leu786Arg) n.421-50442T>G | |
12 | g.6044376A>G | CA383522219 | VWF | c.2357T>C (p.Leu786Pro) n.421-50442T>C | |
12 | g.6044376A>T | CA383522222 | VWF | c.2357T>A (p.Leu786His) n.421-50442T>A | |
12 | g.6044377G>A | CA383522229 | VWF | c.2356C>T (p.Leu786Phe) n.421-50443C>T | gnomAD v4 |
12 | g.6044377G>C | CA383522233 | VWF | c.2356C>G (p.Leu786Val) n.421-50443C>G | |
12 | g.6044377G>T | CA383522226 | VWF | c.2356C>A (p.Leu786Ile) n.421-50443C>A | |
12 | g.6044378C>A | CA478103345 | VWF | c.2355G>T (p.Gly785=) n.421-50444G>T | dbSNP gnomAD v4 |
12 | g.6044378C= | CA2013884573 | VWF | c.2355G= (p.Gly785=) n.421-50444G= | |
12 | g.6044378C>G | CA478103347 | VWF | c.2355G>C (p.Gly785=) n.421-50444G>C | |
12 | g.6044378C>T | CA478103346 | VWF | c.2355G>A (p.Gly785=) n.421-50444G>A | |
12 | g.6044379C>A | CA383522245 | VWF | c.2354G>T (p.Gly785Val) n.421-50445G>T | |
12 | g.6044379C= | CA2013884574 | VWF | c.2354G= (p.Gly785=) n.421-50445G= | |
12 | g.6044379C>G | CA383522239 | VWF | c.2354G>C (p.Gly785Ala) n.421-50445G>C | gnomAD v4 |
12 | g.6044379C>T | CA228328 | VWF | c.2354G>A (p.Gly785Glu) n.421-50445G>A | ClinVar dbSNP |
12 | g.6044380C>A | CA383522248 | VWF | c.2353G>T (p.Gly785Trp) n.421-50446G>T | |
12 | g.6044380C>G | CA383522251 | VWF | c.2353G>C (p.Gly785Arg) n.421-50446G>C | |
12 | g.6044380C>T | CA383522253 | VWF | c.2353G>A (p.Gly785Arg) n.421-50446G>A | |
12 | g.6044381T>A | CA383522257 | VWF | c.2352A>T (p.Glu784Asp) n.421-50447A>T | |
12 | g.6044381T>C | CA478103348 | VWF | c.2352A>G (p.Glu784=) n.421-50447A>G | |
12 | g.6044381T>G | CA383522260 | VWF | c.2352A>C (p.Glu784Asp) n.421-50447A>C | |
12 | g.6044382T>A | CA383522263 | VWF | c.2351A>T (p.Glu784Val) n.421-50448A>T | |
12 | g.6044382T>C | CA383522265 | VWF | c.2351A>G (p.Glu784Gly) n.421-50448A>G | |
12 | g.6044382T>G | CA383522268 | VWF | c.2351A>C (p.Glu784Ala) n.421-50448A>C | |
12 | g.6044383C>A | CA383522271 | VWF | c.2350G>T (p.Glu784Ter) n.421-50449G>T | |
12 | g.6044383C= | CA2013884575 | VWF | c.2350G= (p.Glu784=) n.421-50449G= | |
12 | g.6044383C>G | CA383522274 | VWF | c.2350G>C (p.Glu784Gln) n.421-50449G>C | |
12 | g.6044383C>T | CA383522277 | VWF | c.2350G>A (p.Glu784Lys) n.421-50449G>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6044384A>C | CA478103352 | VWF | c.2349T>G (p.Ala783=) n.421-50450T>G | |
12 | g.6044384A>G | CA478103353 | VWF | c.2349T>C (p.Ala783=) n.421-50450T>C | |
12 | g.6044384A>T | CA478103354 | VWF | c.2349T>A (p.Ala783=) n.421-50450T>A | |
12 | g.6044385G>A | CA383522287 | VWF | c.2348C>T (p.Ala783Val) n.421-50451C>T | gnomAD v4 |
12 | g.6044385G>C | CA383522281 | VWF | c.2348C>G (p.Ala783Gly) n.421-50451C>G | |
12 | g.6044385G>T | CA383522285 | VWF | c.2348C>A (p.Ala783Asp) n.421-50451C>A | |
12 | g.6044386C>A | CA383522291 | VWF | c.2347G>T (p.Ala783Ser) n.421-50452G>T | |
12 | g.6044386C>G | CA383522294 | VWF | c.2347G>C (p.Ala783Pro) n.421-50452G>C | |
12 | g.6044386C>T | CA383522297 | VWF | c.2347G>A (p.Ala783Thr) n.421-50452G>A | |
12 | g.6044387C>A | CA478103359 | VWF | c.2346G>T (p.Arg782=) n.421-50453G>T | |
12 | g.6044387C>G | CA478103357 | VWF | c.2346G>C (p.Arg782=) n.421-50453G>C | |
12 | g.6044387C>T | CA478103358 | VWF | c.2346G>A (p.Arg782=) n.421-50453G>A | |
12 | g.6044388C>A | CA383522299 | VWF | c.2345G>T (p.Arg782Leu) n.421-50454G>T | |
12 | g.6044388C= | CA2013884576 | VWF | c.2345G= (p.Arg782=) n.421-50454G= | |
12 | g.6044388C>G | CA6403092 | VWF | c.2345G>C (p.Arg782Pro) n.421-50454G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6044388C>T | CA228326 | VWF | c.2345G>A (p.Arg782Gln) n.421-50454G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6044389G>A | CA228324 | VWF | c.2344C>T (p.Arg782Trp) n.421-50455C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6044389G>C | CA383522309 | VWF | c.2344C>G (p.Arg782Gly) n.421-50455C>G | |
12 | g.6044389G= | CA2013884577 | VWF | c.2344C= (p.Arg782=) n.421-50455C= | |
12 | g.6044389G>T | CA478103361 | VWF | c.2344C>A (p.Arg782=) n.421-50455C>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6044390C>A | CA478103363 | VWF | c.2343G>T (p.Leu781=) n.421-50456G>T | COSMIC |
12 | g.6044390C>G | CA478103365 | VWF | c.2343G>C (p.Leu781=) n.421-50456G>C | |
12 | g.6044390C>T | CA478103366 | VWF | c.2343G>A (p.Leu781=) n.421-50456G>A | gnomAD v4 |
12 | g.6044391A>C | CA383522313 | VWF | c.2342T>G (p.Leu781Arg) n.421-50457T>G | |
12 | g.6044391A>G | CA383522315 | VWF | c.2342T>C (p.Leu781Pro) n.421-50457T>C | |
12 | g.6044391A>T | CA383522316 | VWF | c.2342T>A (p.Leu781Gln) n.421-50457T>A | |
12 | g.6044392G>A | CA6403093 | VWF | c.2341C>T (p.Leu781=) n.421-50458C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6044392G>C | CA383522318 | VWF | c.2341C>G (p.Leu781Val) n.421-50458C>G | ClinVar gnomAD v4 |
12 | g.6044392G= | CA2013884578 | VWF | c.2341C= (p.Leu781=) n.421-50458C= | |
12 | g.6044392G>T | CA383522317 | VWF | c.2341C>A (p.Leu781Met) n.421-50458C>A | |
12 | g.6044393G>A | CA478103367 | VWF | c.2340C>T (p.Asn780=) n.421-50459C>T | |
12 | g.6044393G>C | CA6403094 | VWF | c.2340C>G (p.Asn780Lys) n.421-50459C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6044393G= | CA2013884579 | VWF | c.2340C= (p.Asn780=) n.421-50459C= | |
12 | g.6044393G>T | CA383522320 | VWF | c.2340C>A (p.Asn780Lys) n.421-50459C>A | |
12 | g.6044394T>A | CA383522323 | VWF | c.2339A>T (p.Asn780Ile) n.421-50460A>T | |
12 | g.6044394T>C | CA232300403 | VWF | c.2339A>G (p.Asn780Ser) n.421-50460A>G | dbSNP gnomAD v4 |
12 | g.6044394T>G | CA383522326 | VWF | c.2339A>C (p.Asn780Thr) n.421-50460A>C | dbSNP gnomAD v4 |
12 | g.6044394T= | CA2013884580 | VWF | c.2339A= (p.Asn780=) n.421-50460A= | |
12 | g.6044395T>A | CA383522330 | VWF | c.2338A>T (p.Asn780Tyr) n.421-50461A>T | |
12 | g.6044395T>C | CA383522333 | VWF | c.2338A>G (p.Asn780Asp) n.421-50461A>G | |
12 | g.6044395T>G | CA383522335 | VWF | c.2338A>C (p.Asn780His) n.421-50461A>C | |
12 | g.6044396G>A | CA478103369 | VWF | c.2337C>T (p.Asp779=) n.421-50462C>T | |
12 | g.6044396G>C | CA383522338 | VWF | c.2337C>G (p.Asp779Glu) n.421-50462C>G | |
12 | g.6044396G>T | CA383522341 | VWF | c.2337C>A (p.Asp779Glu) n.421-50462C>A | |
12 | g.6044397T>A | CA383522343 | VWF | c.2336A>T (p.Asp779Val) n.421-50463A>T | |
12 | g.6044397T>C | CA6403095 | VWF | c.2336A>G (p.Asp779Gly) n.421-50463A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6044397T>G | CA383522345 | VWF | c.2336A>C (p.Asp779Ala) n.421-50463A>C | |
12 | g.6044397T= | CA2013884581 | VWF | c.2336A= (p.Asp779=) n.421-50463A= | |
12 | g.6044398C>A | CA383522354 | VWF | c.2335G>T (p.Asp779Tyr) n.421-50464G>T | |
12 | g.6044398C>G | CA383522348 | VWF | c.2335G>C (p.Asp779His) n.421-50464G>C | |
12 | g.6044398C>T | CA383522351 | VWF | c.2335G>A (p.Asp779Asn) n.421-50464G>A | |
12 | g.6044399A>C | CA478103371 | VWF | c.2334T>G (p.Ala778=) n.421-50465T>G | |
12 | g.6044399A>G | CA478103372 | VWF | c.2334T>C (p.Ala778=) n.421-50465T>C | |
12 | g.6044399A>T | CA478103373 | VWF | c.2334T>A (p.Ala778=) n.421-50465T>A | |
12 | g.6044400G>A | CA383522357 | VWF | c.2333C>T (p.Ala778Val) n.421-50466C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6044400G>C | CA383522358 | VWF | c.2333C>G (p.Ala778Gly) n.421-50466C>G | |
12 | g.6044400G= | CA2013884582 | VWF | c.2333C= (p.Ala778=) n.421-50466C= | |
12 | g.6044400G>T | CA383522361 | VWF | c.2333C>A (p.Ala778Asp) n.421-50466C>A | |
12 | g.6044401C>A | CA383522363 | VWF | c.2332G>T (p.Ala778Ser) n.421-50467G>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6044401C= | CA2013884583 | VWF | c.2332G= (p.Ala778=) n.421-50467G= | |
12 | g.6044401C>G | CA383522366 | VWF | c.2332G>C (p.Ala778Pro) n.421-50467G>C | |
12 | g.6044401C>T | CA6403096 | VWF | c.2332G>A (p.Ala778Thr) n.421-50467G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6044402G>A | CA6403097 | VWF | c.2331C>T (p.Pro777=) n.421-50468C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6044402G>C | CA478103374 | VWF | c.2331C>G (p.Pro777=) n.421-50468C>G | |
12 | g.6044402G= | CA2013884584 | VWF | c.2331C= (p.Pro777=) n.421-50468C= | |
12 | g.6044402G>T | CA478103375 | VWF | c.2331C>A (p.Pro777=) n.421-50468C>A | |
12 | g.6044403G>A | CA383522371 | VWF | c.2330C>T (p.Pro777Leu) n.421-50469C>T | |
12 | g.6044403G>C | CA383522374 | VWF | c.2330C>G (p.Pro777Arg) n.421-50469C>G | |
12 | g.6044403G>T | CA383522378 | VWF | c.2330C>A (p.Pro777His) n.421-50469C>A | |
12 | g.6044404G>A | CA383522382 | VWF | c.2329C>T (p.Pro777Ser) n.421-50470C>T | |
12 | g.6044404G>C | CA383522385 | VWF | c.2329C>G (p.Pro777Ala) n.421-50470C>G | |
12 | g.6044404G>T | CA383522388 | VWF | c.2329C>A (p.Pro777Thr) n.421-50470C>A |