Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.6057921A>C | CA383498162 | VWF | c.1657T>G (p.Trp553Gly) n.420+52594T>G | |
12 | g.6057921A>G | CA383498161 | VWF | c.1657T>C (p.Trp553Arg) n.420+52594T>C | gnomAD v4 |
12 | g.6057921A>T | CA383498160 | VWF | c.1657T>A (p.Trp553Arg) n.420+52594T>A | |
12 | g.6057921dup | CA228279 | VWF | c.1657dup (p.Trp553LeufsTer?) n.420+52594dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6057922G>A | CA478104030 | VWF | c.1656C>T (p.Ala552=) n.420+52593C>T | gnomAD v4 |
12 | g.6057922G>C | CA478104028 | VWF | c.1656C>G (p.Ala552=) n.420+52593C>G | |
12 | g.6057922G>T | CA478104029 | VWF | c.1656C>A (p.Ala552=) n.420+52593C>A | |
12 | g.6057923G>A | CA383498163 | VWF | c.1655C>T (p.Ala552Val) n.420+52592C>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6057923G>C | CA383498164 | VWF | c.1655C>G (p.Ala552Gly) n.420+52592C>G | |
12 | g.6057923G= | CA2013891989 | VWF | c.1655C= (p.Ala552=) n.420+52592C= | |
12 | g.6057923G>T | CA383498165 | VWF | c.1655C>A (p.Ala552Asp) n.420+52592C>A | |
12 | g.6057924C>A | CA383498166 | VWF | c.1654G>T (p.Ala552Ser) n.420+52591G>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6057924C= | CA2013891992 | VWF | c.1654G= (p.Ala552=) n.420+52591G= | |
12 | g.6057924C>G | CA383498167 | VWF | c.1654G>C (p.Ala552Pro) n.420+52591G>C | |
12 | g.6057924C>T | CA6403312 | VWF | c.1654G>A (p.Ala552Thr) n.420+52591G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.6057925G>A | CA478104032 | VWF | c.1653C>T (p.Asn551=) n.420+52590C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6057925G>C | CA383498168 | VWF | c.1653C>G (p.Asn551Lys) n.420+52590C>G | gnomAD v4 |
12 | g.6057925G= | CA2013891996 | VWF | c.1653C= (p.Asn551=) n.420+52590C= | |
12 | g.6057925G>T | CA383498169 | VWF | c.1653C>A (p.Asn551Lys) n.420+52590C>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6057926T>A | CA383498170 | VWF | c.1652A>T (p.Asn551Ile) n.420+52589A>T | |
12 | g.6057926T>C | CA383498171 | VWF | c.1652A>G (p.Asn551Ser) n.420+52589A>G | |
12 | g.6057926T>G | CA383498172 | VWF | c.1652A>C (p.Asn551Thr) n.420+52589A>C | |
12 | g.6057927T>A | CA383498173 | VWF | c.1651A>T (p.Asn551Tyr) n.420+52588A>T | |
12 | g.6057927T>C | CA383498174 | VWF | c.1651A>G (p.Asn551Asp) n.420+52588A>G | gnomAD v4 |
12 | g.6057927T>G | CA383498175 | VWF | c.1651A>C (p.Asn551His) n.420+52588A>C | |
12 | g.6057927T= | CA2013891999 | VWF | c.1651A= (p.Asn551=) n.420+52588A= | |
12 | g.6057928C>A | CA478104033 | VWF | c.1650G>T (p.Gly550=) n.420+52587G>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6057928C= | CA2013892003 | VWF | c.1650G= (p.Gly550=) n.420+52587G= | |
12 | g.6057928C>G | CA478104034 | VWF | c.1650G>C (p.Gly550=) n.420+52587G>C | |
12 | g.6057928C>T | CA478104035 | VWF | c.1650G>A (p.Gly550=) n.420+52587G>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6057930dup | CA232310611 | VWF | c.1650dup (p.Asn551GlufsTer?) n.420+52587dup | dbSNP |
12 | g.6057929C>A | CA383498178 | VWF | c.1649G>T (p.Gly550Val) n.420+52586G>T | |
12 | g.6057929C>G | CA383498177 | VWF | c.1649G>C (p.Gly550Ala) n.420+52586G>C | |
12 | g.6057929C>T | CA383498176 | VWF | c.1649G>A (p.Gly550Glu) n.420+52586G>A | gnomAD v4 |
12 | g.6057930C>A | CA383498179 | VWF | c.1648G>T (p.Gly550Trp) n.420+52585G>T | gnomAD v4 |
12 | g.6057930C= | CA2013892007 | VWF | c.1648G= (p.Gly550=) n.420+52585G= | |
12 | g.6057930C>G | CA383498180 | VWF | c.1648G>C (p.Gly550Arg) n.420+52585G>C | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6057930C>T | CA114156 | VWF | c.1648G>A (p.Gly550Arg) n.420+52585G>A | ClinVar dbSNP gnomAD v4 COSMIC |
12 | g.6057931del | CA2575054075 | VWF | c.1647del (p.Phe549LeufsTer28) n.420+52584del | |
12 | g.6057931G>A | CA232310614 | VWF | c.1647C>T (p.Phe549=) n.420+52584C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6057931G>C | CA383498181 | VWF | c.1647C>G (p.Phe549Leu) n.420+52584C>G | |
12 | g.6057931G= | CA2013892014 | VWF | c.1647C= (p.Phe549=) n.420+52584C= | |
12 | g.6057931G>T | CA383498182 | VWF | c.1647C>A (p.Phe549Leu) n.420+52584C>A | gnomAD v4 |
12 | g.6057932A>C | CA383498183 | VWF | c.1646T>G (p.Phe549Cys) n.420+52583T>G | |
12 | g.6057932A>G | CA383498184 | VWF | c.1646T>C (p.Phe549Ser) n.420+52583T>C | |
12 | g.6057932A>T | CA383498185 | VWF | c.1646T>A (p.Phe549Tyr) n.420+52583T>A | |
12 | g.6057933A>C | CA383498186 | VWF | c.1645T>G (p.Phe549Val) n.420+52582T>G | |
12 | g.6057933A>G | CA383498187 | VWF | c.1645T>C (p.Phe549Leu) n.420+52582T>C | |
12 | g.6057933A>T | CA383498188 | VWF | c.1645T>A (p.Phe549Ile) n.420+52582T>A | |
12 | g.6057934G>A | CA478104036 | VWF | c.1644C>T (p.Asp548=) n.420+52581C>T | gnomAD v4 |
12 | g.6057934G>C | CA383498189 | VWF | c.1644C>G (p.Asp548Glu) n.420+52581C>G | ClinVar gnomAD v4 |
12 | g.6057934G>T | CA383498190 | VWF | c.1644C>A (p.Asp548Glu) n.420+52581C>A | |
12 | g.6057935T>A | CA383498193 | VWF | c.1643A>T (p.Asp548Val) n.420+52580A>T | |
12 | g.6057935T>C | CA383498191 | VWF | c.1643A>G (p.Asp548Gly) n.420+52580A>G | dbSNP gnomAD v4 |
12 | g.6057935T>G | CA383498192 | VWF | c.1643A>C (p.Asp548Ala) n.420+52580A>C | |
12 | g.6057935T= | CA2013892017 | VWF | c.1643A= (p.Asp548=) n.420+52580A= | |
12 | g.6057938_6057940dup | CA2617232672 | VWF | c.1641_1643dup (p.Glu547_Asp548insGlu) n.420+52578_420+52580dup | gnomAD v4 |
12 | g.6057936C>A | CA383498194 | VWF | c.1642G>T (p.Asp548Tyr) n.420+52579G>T | |
12 | g.6057936C>G | CA383498195 | VWF | c.1642G>C (p.Asp548His) n.420+52579G>C | |
12 | g.6057936C>T | CA383498196 | VWF | c.1642G>A (p.Asp548Asn) n.420+52579G>A | |
12 | g.6057937C>A | CA383498197 | VWF | c.1641G>T (p.Glu547Asp) n.420+52578G>T | |
12 | g.6057937C>G | CA383498198 | VWF | c.1641G>C (p.Glu547Asp) n.420+52578G>C | |
12 | g.6057937C>T | CA478104037 | VWF | c.1641G>A (p.Glu547=) n.420+52578G>A | |
12 | g.6057938T>A | CA383498199 | VWF | c.1640A>T (p.Glu547Val) n.420+52577A>T | |
12 | g.6057938T>C | CA383498200 | VWF | c.1640A>G (p.Glu547Gly) n.420+52577A>G | |
12 | g.6057938T>G | CA383498201 | VWF | c.1640A>C (p.Glu547Ala) n.420+52577A>C | dbSNP |
12 | g.6057938T= | CA2013892019 | VWF | c.1640A= (p.Glu547=) n.420+52577A= | |
12 | g.6057939C>A | CA383498202 | VWF | c.1639G>T (p.Glu547Ter) n.420+52576G>T | |
12 | g.6057939C>G | CA383498203 | VWF | c.1639G>C (p.Glu547Gln) n.420+52576G>C | |
12 | g.6057939C>T | CA383498204 | VWF | c.1639G>A (p.Glu547Lys) n.420+52576G>A | |
12 | g.6057940C>A | CA478104038 | VWF | c.1638G>T (p.Val546=) n.420+52575G>T | |
12 | g.6057940C= | CA2013892021 | VWF | c.1638G= (p.Val546=) n.420+52575G= | |
12 | g.6057940C>G | CA478104039 | VWF | c.1638G>C (p.Val546=) n.420+52575G>C | |
12 | g.6057940C>T | CA232310615 | VWF | c.1638G>A (p.Val546=) n.420+52575G>A | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6057941A= | CA2013892025 | VWF | c.1637T= (p.Val546=) n.420+52574T= | |
12 | g.6057941A>C | CA383498205 | VWF | c.1637T>G (p.Val546Gly) n.420+52574T>G | gnomAD v4 |
12 | g.6057941A>G | CA232310616 | VWF | c.1637T>C (p.Val546Ala) n.420+52574T>C | dbSNP |
12 | g.6057941A>T | CA383498206 | VWF | c.1637T>A (p.Val546Glu) n.420+52574T>A | gnomAD v4 |
12 | g.6057942C>A | CA6403313 | VWF | c.1636G>T (p.Val546Leu) n.420+52573G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6057942C= | CA2013892028 | VWF | c.1636G= (p.Val546=) n.420+52573G= | |
12 | g.6057942C>G | CA383498207 | VWF | c.1636G>C (p.Val546Leu) n.420+52573G>C | |
12 | g.6057942C>T | CA383498208 | VWF | c.1636G>A (p.Val546Met) n.420+52573G>A | dbSNP gnomAD v4 |
12 | g.6057943C>A | CA478104041 | VWF | c.1635G>T (p.Arg545=) n.420+52572G>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6057943C= | CA2013892034 | VWF | c.1635G= (p.Arg545=) n.420+52572G= | |
12 | g.6057943C>G | CA6403314 | VWF | c.1635G>C (p.Arg545=) n.420+52572G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6057943C>T | CA478104040 | VWF | c.1635G>A (p.Arg545=) n.420+52572G>A | |
12 | g.6057944C>A | CA383498209 | VWF | c.1634G>T (p.Arg545Leu) n.420+52571G>T | |
12 | g.6057944C= | CA2013892036 | VWF | c.1634G= (p.Arg545=) n.420+52571G= | |
12 | g.6057944C>G | CA6403315 | VWF | c.1634G>C (p.Arg545Pro) n.420+52571G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6057944C>T | CA383498210 | VWF | c.1634G>A (p.Arg545Gln) n.420+52571G>A | |
12 | g.6057945G>A | CA383498212 | VWF | c.1633C>T (p.Arg545Trp) n.420+52570C>T | gnomAD v4 |
12 | g.6057945G>C | CA383498211 | VWF | c.1633C>G (p.Arg545Gly) n.420+52570C>G | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6057945G= | CA2013892040 | VWF | c.1633C= (p.Arg545=) n.420+52570C= | |
12 | g.6057945G>T | CA478104042 | VWF | c.1633C>A (p.Arg545=) n.420+52570C>A | |
12 | g.6057948del | CA2617232673 | VWF | c.1633del (p.Arg545GlyfsTer?) n.420+52570del | gnomAD v4 |
12 | g.6057946G>A | CA478104043 | VWF | c.1632C>T (p.Pro544=) n.420+52569C>T | |
12 | g.6057946G>C | CA478104044 | VWF | c.1632C>G (p.Pro544=) n.420+52569C>G | |
12 | g.6057946G>T | CA478104045 | VWF | c.1632C>A (p.Pro544=) n.420+52569C>A | |
12 | g.6057947G>A | CA6403316 | VWF | c.1631C>T (p.Pro544Leu) n.420+52568C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6057947G>C | CA383498213 | VWF | c.1631C>G (p.Pro544Arg) n.420+52568C>G | |
12 | g.6057947G= | CA2013892043 | VWF | c.1631C= (p.Pro544=) n.420+52568C= | |
12 | g.6057947G>T | CA383498214 | VWF | c.1631C>A (p.Pro544His) n.420+52568C>A | |
12 | g.6057948G>A | CA383498215 | VWF | c.1630C>T (p.Pro544Ser) n.420+52567C>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6057948G>C | CA383498216 | VWF | c.1630C>G (p.Pro544Ala) n.420+52567C>G | |
12 | g.6057948G= | CA2013892046 | VWF | c.1630C= (p.Pro544=) n.420+52567C= | |
12 | g.6057948G>T | CA383498217 | VWF | c.1630C>A (p.Pro544Thr) n.420+52567C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.6057949C>A | CA383498218 | VWF | c.1629G>T (p.Glu543Asp) n.420+52566G>T | gnomAD v4 |
12 | g.6057949C= | CA2013892052 | VWF | c.1629G= (p.Glu543=) n.420+52566G= | |
12 | g.6057949C>G | CA383498219 | VWF | c.1629G>C (p.Glu543Asp) n.420+52566G>C | |
12 | g.6057949C>T | CA6403317 | VWF | c.1629G>A (p.Glu543=) n.420+52566G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6057950T>A | CA383498220 | VWF | c.1628A>T (p.Glu543Val) n.420+52565A>T | |
12 | g.6057950T>C | CA383498221 | VWF | c.1628A>G (p.Glu543Gly) n.420+52565A>G | |
12 | g.6057950T>G | CA383498222 | VWF | c.1628A>C (p.Glu543Ala) n.420+52565A>C | |
12 | g.6057951C>A | CA383498223 | VWF | c.1627G>T (p.Glu543Ter) n.420+52564G>T | |
12 | g.6057951C>G | CA383498224 | VWF | c.1627G>C (p.Glu543Gln) n.420+52564G>C | |
12 | g.6057951C>T | CA383498225 | VWF | c.1627G>A (p.Glu543Lys) n.420+52564G>A | |
12 | g.6057952C>A | CA478104046 | VWF | c.1626G>T (p.Ala542=) n.420+52563G>T | |
12 | g.6057952C= | CA2013892058 | VWF | c.1626G= (p.Ala542=) n.420+52563G= | |
12 | g.6057952C>G | CA232310631 | VWF | c.1626G>C (p.Ala542=) n.420+52563G>C | dbSNP |
12 | g.6057952C>T | CA6403318 | VWF | c.1626G>A (p.Ala542=) n.420+52563G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6057953G>A | CA232310640 | VWF | c.1625C>T (p.Ala542Val) n.420+52562C>T | dbSNP gnomAD v4 |
12 | g.6057953G>C | CA6403319 | VWF | c.1625C>G (p.Ala542Gly) n.420+52562C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6057953G= | CA2013892066 | VWF | c.1625C= (p.Ala542=) n.420+52562C= | |
12 | g.6057953G>T | CA383498226 | VWF | c.1625C>A (p.Ala542Glu) n.420+52562C>A | gnomAD v4 COSMIC |
12 | g.6057954C>A | CA383498227 | VWF | c.1624G>T (p.Ala542Ser) n.420+52561G>T | |
12 | g.6057954C= | CA2013892072 | VWF | c.1624G= (p.Ala542=) n.420+52561G= | |
12 | g.6057954C>G | CA383498228 | VWF | c.1624G>C (p.Ala542Pro) n.420+52561G>C | dbSNP |
12 | g.6057954C>T | CA6403320 | VWF | c.1624G>A (p.Ala542Thr) n.420+52561G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6057955C>A | CA478104047 | VWF | c.1623G>T (p.Leu541=) n.420+52560G>T | |
12 | g.6057955C= | CA2013892076 | VWF | c.1623G= (p.Leu541=) n.420+52560G= | |
12 | g.6057955C>G | CA6403321 | VWF | c.1623G>C (p.Leu541=) n.420+52560G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6057955C>T | CA478104048 | VWF | c.1623G>A (p.Leu541=) n.420+52560G>A | |
12 | g.6057956A>C | CA383498229 | VWF | c.1622T>G (p.Leu541Arg) n.420+52559T>G | |
12 | g.6057956A>G | CA383498230 | VWF | c.1622T>C (p.Leu541Pro) n.420+52559T>C | |
12 | g.6057956A>T | CA383498231 | VWF | c.1622T>A (p.Leu541Gln) n.420+52559T>A | |
12 | g.6057957G>A | CA478104050 | VWF | c.1621C>T (p.Leu541=) n.420+52558C>T | gnomAD v4 |
12 | g.6057957G>C | CA383498232 | VWF | c.1621C>G (p.Leu541Val) n.420+52558C>G | |
12 | g.6057957G>T | CA383498233 | VWF | c.1621C>A (p.Leu541Met) n.420+52558C>A | |
12 | g.6057958C>A | CA478104051 | VWF | c.1620G>T (p.Gly540=) n.420+52557G>T | |
12 | g.6057958C>G | CA478104052 | VWF | c.1620G>C (p.Gly540=) n.420+52557G>C | gnomAD v4 |
12 | g.6057958C>T | CA478104053 | VWF | c.1620G>A (p.Gly540=) n.420+52557G>A | gnomAD v4 |
12 | g.6057959C>A | CA383498234 | VWF | c.1619G>T (p.Gly540Val) n.420+52556G>T | |
12 | g.6057959C>G | CA383498235 | VWF | c.1619G>C (p.Gly540Ala) n.420+52556G>C | |
12 | g.6057959C>T | CA383498236 | VWF | c.1619G>A (p.Gly540Glu) n.420+52556G>A | |
12 | g.6057960C>A | CA383498237 | VWF | c.1618G>T (p.Gly540Trp) n.420+52555G>T | |
12 | g.6057960C= | CA2013892078 | VWF | c.1618G= (p.Gly540=) n.420+52555G= | |
12 | g.6057960C>G | CA383498238 | VWF | c.1618G>C (p.Gly540Arg) n.420+52555G>C | |
12 | g.6057960C>T | CA383498239 | VWF | c.1618G>A (p.Gly540Arg) n.420+52555G>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6057961A= | CA2013892100 | VWF | c.1617T= (p.Ser539=) n.420+52554T= | |
12 | g.6057961A>C | CA478104054 | VWF | c.1617T>G (p.Ser539=) n.420+52554T>G | |
12 | g.6057961A>G | CA6403322 | VWF | c.1617T>C (p.Ser539=) n.420+52554T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6057961A>T | CA478104055 | VWF | c.1617T>A (p.Ser539=) n.420+52554T>A | |
12 | g.6057962G>A | CA6403323 | VWF | c.1616C>T (p.Ser539Phe) n.420+52553C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6057962G>C | CA383498241 | VWF | c.1616C>G (p.Ser539Cys) n.420+52553C>G | COSMIC |
12 | g.6057962G= | CA2013892105 | VWF | c.1616C= (p.Ser539=) n.420+52553C= | |
12 | g.6057962G>T | CA383498240 | VWF | c.1616C>A (p.Ser539Tyr) n.420+52553C>A | |
12 | g.6057963A= | CA2013892110 | VWF | c.1615T= (p.Ser539=) n.420+52552T= | |
12 | g.6057963A>C | CA383498242 | VWF | c.1615T>G (p.Ser539Ala) n.420+52552T>G | |
12 | g.6057963A>G | CA383498243 | VWF | c.1615T>C (p.Ser539Pro) n.420+52552T>C | |
12 | g.6057963A>T | CA383498244 | VWF | c.1615T>A (p.Ser539Thr) n.420+52552T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6057963_6057964delinsAG | CA2013892108 | VWF | c.1614_1615delinsCT (p.Pro538=) n.420+52551_420+52552delinsCT | |
12 | g.6057964G>A | CA6403325 | VWF | c.1614C>T (p.Pro538=) n.420+52551C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6057964G>C | CA478104057 | VWF | c.1614C>G (p.Pro538=) n.420+52551C>G | |
12 | g.6057964G= | CA2013892117 | VWF | c.1614C= (p.Pro538=) n.420+52551C= | |
12 | g.6057964G>T | CA478104056 | VWF | c.1614C>A (p.Pro538=) n.420+52551C>A | |
12 | g.6057968del | CA6403324 | VWF | c.1614del (p.Ser539LeufsTer?) n.420+52551del | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6057965G>A | CA6403326 | VWF | c.1613C>T (p.Pro538Leu) n.420+52550C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6057965G>C | CA6403327 | VWF | c.1613C>G (p.Pro538Arg) n.420+52550C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6057965G= | CA2013892123 | VWF | c.1613C= (p.Pro538=) n.420+52550C= | |
12 | g.6057965G>T | CA6403328 | VWF | c.1613C>A (p.Pro538His) n.420+52550C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6057966G>A | CA6403329 | VWF | c.1612C>T (p.Pro538Ser) n.420+52549C>T | dbSNP ExAC gnomAD v2 |
12 | g.6057966G>C | CA383498245 | VWF | c.1612C>G (p.Pro538Ala) n.420+52549C>G | |
12 | g.6057966G= | CA2013892130 | VWF | c.1612C= (p.Pro538=) n.420+52549C= | |
12 | g.6057966G>T | CA383498246 | VWF | c.1612C>A (p.Pro538Thr) n.420+52549C>A | |
12 | g.6057967G>A | CA6403330 | VWF | c.1611C>T (p.Thr537=) n.420+52548C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6057967G>C | CA478104059 | VWF | c.1611C>G (p.Thr537=) n.420+52548C>G | |
12 | g.6057967G= | CA2013892131 | VWF | c.1611C= (p.Thr537=) n.420+52548C= | |
12 | g.6057967G>T | CA232310681 | VWF | c.1611C>A (p.Thr537=) n.420+52548C>A | dbSNP gnomAD v4 |
12 | g.6057968G>A | CA6403331 | VWF | c.1610C>T (p.Thr537Ile) n.420+52547C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6057968G>C | CA383498248 | VWF | c.1610C>G (p.Thr537Ser) n.420+52547C>G | |
12 | g.6057968G= | CA2013892133 | VWF | c.1610C= (p.Thr537=) n.420+52547C= | |
12 | g.6057968G>T | CA383498247 | VWF | c.1610C>A (p.Thr537Asn) n.420+52547C>A | gnomAD v4 |
12 | g.6057969T>A | CA383498249 | VWF | c.1609A>T (p.Thr537Ser) n.420+52546A>T | |
12 | g.6057969T>C | CA383498250 | VWF | c.1609A>G (p.Thr537Ala) n.420+52546A>G | |
12 | g.6057969T>G | CA232310687 | VWF | c.1609A>C (p.Thr537Pro) n.420+52546A>C | dbSNP COSMIC |
12 | g.6057969T= | CA2013892135 | VWF | c.1609A= (p.Thr537=) n.420+52546A= | |
12 | g.6057970A= | CA2013892139 | VWF | c.1608T= (p.Leu536=) n.420+52545T= | |
12 | g.6057970A>C | CA478104060 | VWF | c.1608T>G (p.Leu536=) n.420+52545T>G | |
12 | g.6057970A>G | CA478104061 | VWF | c.1608T>C (p.Leu536=) n.420+52545T>C | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6057970A>T | CA478104062 | VWF | c.1608T>A (p.Leu536=) n.420+52545T>A | |
12 | g.6057971A= | CA2013892143 | VWF | c.1607T= (p.Leu536=) n.420+52544T= | |
12 | g.6057971A>C | CA383498251 | VWF | c.1607T>G (p.Leu536Arg) n.420+52544T>G | |
12 | g.6057971A>G | CA383498252 | VWF | c.1607T>C (p.Leu536Pro) n.420+52544T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.6057971A>T | CA383498253 | VWF | c.1607T>A (p.Leu536His) n.420+52544T>A | |
12 | g.6057972G>A | CA6403332 | VWF | c.1606C>T (p.Leu536Phe) n.420+52543C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6057972G>C | CA383498254 | VWF | c.1606C>G (p.Leu536Val) n.420+52543C>G | |
12 | g.6057972G= | CA2013892149 | VWF | c.1606C= (p.Leu536=) n.420+52543C= | |
12 | g.6057972G>T | CA383498255 | VWF | c.1606C>A (p.Leu536Ile) n.420+52543C>A | |
12 | g.6057972_6057973del | CA2617232674 | VWF | c.1605_1606del (p.Leu536TyrfsTer?) n.420+52542_420+52543del | gnomAD v4 |
12 | g.6057973G>A | CA478104063 | VWF | c.1605C>T (p.Phe535=) n.420+52542C>T | gnomAD v4 |
12 | g.6057973G>C | CA383498256 | VWF | c.1605C>G (p.Phe535Leu) n.420+52542C>G | |
12 | g.6057973G>T | CA383498257 | VWF | c.1605C>A (p.Phe535Leu) n.420+52542C>A | |
12 | g.6057974A>C | CA383498258 | VWF | c.1604T>G (p.Phe535Cys) n.420+52541T>G | |
12 | g.6057974A>G | CA383498259 | VWF | c.1604T>C (p.Phe535Ser) n.420+52541T>C | gnomAD v4 COSMIC |
12 | g.6057974A>T | CA383498260 | VWF | c.1604T>A (p.Phe535Tyr) n.420+52541T>A | |
12 | g.6057975A>C | CA383498263 | VWF | c.1603T>G (p.Phe535Val) n.420+52540T>G | |
12 | g.6057975A>G | CA383498261 | VWF | c.1603T>C (p.Phe535Leu) n.420+52540T>C | |
12 | g.6057975A>T | CA383498262 | VWF | c.1603T>A (p.Phe535Ile) n.420+52540T>A | |
12 | g.6057976G>A | CA478104064 | VWF | c.1602C>T (p.Asp534=) n.420+52539C>T | |
12 | g.6057976G>C | CA383498264 | VWF | c.1602C>G (p.Asp534Glu) n.420+52539C>G | |
12 | g.6057976G>T | CA383498265 | VWF | c.1602C>A (p.Asp534Glu) n.420+52539C>A | |
12 | g.6057977T>A | CA383498266 | VWF | c.1601A>T (p.Asp534Val) n.420+52538A>T | |
12 | g.6057977T>C | CA383498267 | VWF | c.1601A>G (p.Asp534Gly) n.420+52538A>G | |
12 | g.6057977T>G | CA383498268 | VWF | c.1601A>C (p.Asp534Ala) n.420+52538A>C | |
12 | g.6057978C>A | CA383498269 | VWF | c.1600G>T (p.Asp534Tyr) n.420+52537G>T | |
12 | g.6057978C= | CA2013892152 | VWF | c.1600G= (p.Asp534=) n.420+52537G= | |
12 | g.6057978C>G | CA383498270 | VWF | c.1600G>C (p.Asp534His) n.420+52537G>C | |
12 | g.6057978C>T | CA383498271 | VWF | c.1600G>A (p.Asp534Asn) n.420+52537G>A | ClinVar dbSNP gnomAD v4 COSMIC |
12 | g.6057979G>A | CA478104065 | VWF | c.1599C>T (p.Asp533=) n.420+52536C>T | dbSNP gnomAD v4 COSMIC |
12 | g.6057979G>C | CA383498272 | VWF | c.1599C>G (p.Asp533Glu) n.420+52536C>G | dbSNP gnomAD v4 |
12 | g.6057979G= | CA2013892156 | VWF | c.1599C= (p.Asp533=) n.420+52536C= | |
12 | g.6057979G>T | CA383498273 | VWF | c.1599C>A (p.Asp533Glu) n.420+52536C>A | |
12 | g.6057980T>A | CA383498275 | VWF | c.1598A>T (p.Asp533Val) n.420+52535A>T | |
12 | g.6057980T>C | CA383498276 | VWF | c.1598A>G (p.Asp533Gly) n.420+52535A>G | gnomAD v4 |
12 | g.6057980T>G | CA383498274 | VWF | c.1598A>C (p.Asp533Ala) n.420+52535A>C | |
12 | g.6057981C>A | CA383498277 | VWF | c.1597G>T (p.Asp533Tyr) n.420+52534G>T | |
12 | g.6057981C>G | CA383498278 | VWF | c.1597G>C (p.Asp533His) n.420+52534G>C | |
12 | g.6057981C>T | CA383498279 | VWF | c.1597G>A (p.Asp533Asn) n.420+52534G>A | dbSNP gnomAD v3 gnomAD v4 COSMIC |
12 | g.6057982G>A | CA6403333 | VWF | c.1596C>T (p.Gly532=) n.420+52533C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6057982G>C | CA6403334 | VWF | c.1596C>G (p.Gly532=) n.420+52533C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6057982G= | CA2013892161 | VWF | c.1596C= (p.Gly532=) n.420+52533C= | |
12 | g.6057982G>T | CA232310700 | VWF | c.1596C>A (p.Gly532=) n.420+52533C>A | dbSNP |
12 | g.6057983C>A | CA383498282 | VWF | c.1595G>T (p.Gly532Val) n.420+52532G>T | |
12 | g.6057983C= | CA2013892166 | VWF | c.1595G= (p.Gly532=) n.420+52532G= | |
12 | g.6057983C>G | CA383498280 | VWF | c.1595G>C (p.Gly532Ala) n.420+52532G>C | |
12 | g.6057983C>T | CA383498281 | VWF | c.1595G>A (p.Gly532Asp) n.420+52532G>A | dbSNP gnomAD v4 |
12 | g.6057984C>A | CA383498283 | VWF | c.1594G>T (p.Gly532Cys) n.420+52531G>T | |
12 | g.6057984C= | CA2013892169 | VWF | c.1594G= (p.Gly532=) n.420+52531G= | |
12 | g.6057984C>G | CA232310706 | VWF | c.1594G>C (p.Gly532Arg) n.420+52531G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6057984C>T | CA383498284 | VWF | c.1594G>A (p.Gly532Ser) n.420+52531G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6057985C>A | CA383498285 | VWF | c.1593G>T (p.Gln531His) n.420+52530G>T | |
12 | g.6057985C>G | CA383498286 | VWF | c.1593G>C (p.Gln531His) n.420+52530G>C | |
12 | g.6057985C>T | CA478104066 | VWF | c.1593G>A (p.Gln531=) n.420+52530G>A | COSMIC |
12 | g.6057986T>A | CA383498287 | VWF | c.1592A>T (p.Gln531Leu) n.420+52529A>T | gnomAD v4 |
12 | g.6057986T>C | CA383498289 | VWF | c.1592A>G (p.Gln531Arg) n.420+52529A>G | |
12 | g.6057986T>G | CA383498288 | VWF | c.1592A>C (p.Gln531Pro) n.420+52529A>C | |
12 | g.6057987G>A | CA383498290 | VWF | c.1591C>T (p.Gln531Ter) n.420+52528C>T | dbSNP |
12 | g.6057987G>C | CA383498291 | VWF | c.1591C>G (p.Gln531Glu) n.420+52528C>G | dbSNP |
12 | g.6057987G= | CA2013892174 | VWF | c.1591C= (p.Gln531=) n.420+52528C= | |
12 | g.6057987G>T | CA383498292 | VWF | c.1591C>A (p.Gln531Lys) n.420+52528C>A | |
12 | g.6057988G>A | CA478104067 | VWF | c.1590C>T (p.Asn530=) n.420+52527C>T | gnomAD v4 |
12 | g.6057988G>C | CA383498293 | VWF | c.1590C>G (p.Asn530Lys) n.420+52527C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.6057988G= | CA2013892179 | VWF | c.1590C= (p.Asn530=) n.420+52527C= | |
12 | g.6057988G>T | CA6403335 | VWF | c.1590C>A (p.Asn530Lys) n.420+52527C>A | dbSNP ExAC gnomAD v4 |
12 | g.6057989T>A | CA383498294 | VWF | c.1589A>T (p.Asn530Ile) n.420+52526A>T | |
12 | g.6057989T>C | CA383498295 | VWF | c.1589A>G (p.Asn530Ser) n.420+52526A>G | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6057989T>G | CA383498296 | VWF | c.1589A>C (p.Asn530Thr) n.420+52526A>C | gnomAD v4 |
12 | g.6057989T= | CA2013892183 | VWF | c.1589A= (p.Asn530=) n.420+52526A= | |
12 | g.6057990T>A | CA383498297 | VWF | c.1588A>T (p.Asn530Tyr) n.420+52525A>T | |
12 | g.6057990T>C | CA383498298 | VWF | c.1588A>G (p.Asn530Asp) n.420+52525A>G | ClinVar dbSNP |
12 | g.6057990T>G | CA383498299 | VWF | c.1588A>C (p.Asn530His) n.420+52525A>C | |
12 | g.6057990T= | CA2013892186 | VWF | c.1588A= (p.Asn530=) n.420+52525A= | |
12 | g.6057991G>A | CA478104068 | VWF | c.1587C>T (p.Gly529=) n.420+52524C>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6057991G>C | CA478104069 | VWF | c.1587C>G (p.Gly529=) n.420+52524C>G | |
12 | g.6057991G= | CA2013892188 | VWF | c.1587C= (p.Gly529=) n.420+52524C= | |
12 | g.6057991G>T | CA478104070 | VWF | c.1587C>A (p.Gly529=) n.420+52524C>A | |
12 | g.6057992C>A | CA383498302 | VWF | c.1586G>T (p.Gly529Val) n.420+52523G>T | gnomAD v4 |
12 | g.6057992C= | CA2013892191 | VWF | c.1586G= (p.Gly529=) n.420+52523G= | |
12 | g.6057992C>G | CA383498301 | VWF | c.1586G>C (p.Gly529Ala) n.420+52523G>C | |
12 | g.6057992C>T | CA383498300 | VWF | c.1586G>A (p.Gly529Asp) n.420+52523G>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6057993C>A | CA383498303 | VWF | c.1585G>T (p.Gly529Cys) n.420+52522G>T | |
12 | g.6057993C>G | CA383498305 | VWF | c.1585G>C (p.Gly529Arg) n.420+52522G>C | |
12 | g.6057993C>T | CA383498304 | VWF | c.1585G>A (p.Gly529Ser) n.420+52522G>A | |
12 | g.6057994A= | CA2013892194 | VWF | c.1584T= (p.Asn528=) n.420+52521T= | |
12 | g.6057994A>C | CA383498306 | VWF | c.1584T>G (p.Asn528Lys) n.420+52521T>G | |
12 | g.6057994A>G | CA478104071 | VWF | c.1584T>C (p.Asn528=) n.420+52521T>C | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6057994A>T | CA383498307 | VWF | c.1584T>A (p.Asn528Lys) n.420+52521T>A | |
12 | g.6057995T>A | CA383498308 | VWF | c.1583A>T (p.Asn528Ile) n.420+52520A>T | |
12 | g.6057995T>C | CA114178 | VWF | c.1583A>G (p.Asn528Ser) n.420+52520A>G | ClinVar dbSNP ExAC gnomAD v2 |
12 | g.6057995T>G | CA383498309 | VWF | c.1583A>C (p.Asn528Thr) n.420+52520A>C | |
12 | g.6057995T= | CA2013892198 | VWF | c.1583A= (p.Asn528=) n.420+52520A= | |
12 | g.6057996T>A | CA383498310 | VWF | c.1582A>T (p.Asn528Tyr) n.420+52519A>T | |
12 | g.6057996T>C | CA383498311 | VWF | c.1582A>G (p.Asn528Asp) n.420+52519A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6057996T>G | CA383498312 | VWF | c.1582A>C (p.Asn528His) n.420+52519A>C | |
12 | g.6057996T= | CA2013892204 | VWF | c.1582A= (p.Asn528=) n.420+52519A= | |
12 | g.6057997del | CA2499221825 | VWF | c.1581del (p.Tyr527Ter) n.420+52518del | ClinVar dbSNP |
12 | g.6057997G>A | CA478104072 | VWF | c.1581C>T (p.Tyr527=) n.420+52518C>T | |
12 | g.6057997G>C | CA383498313 | VWF | c.1581C>G (p.Tyr527Ter) n.420+52518C>G | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6057997G= | CA2013892206 | VWF | c.1581C= (p.Tyr527=) n.420+52518C= | |
12 | g.6057997G>T | CA383498314 | VWF | c.1581C>A (p.Tyr527Ter) n.420+52518C>A | |
12 | g.6057998T>A | CA383498315 | VWF | c.1580A>T (p.Tyr527Phe) n.420+52517A>T | |
12 | g.6057998T>C | CA383498316 | VWF | c.1580A>G (p.Tyr527Cys) n.420+52517A>G | |
12 | g.6057998T>G | CA383498317 | VWF | c.1580A>C (p.Tyr527Ser) n.420+52517A>C | |
12 | g.6057999A>C | CA383498318 | VWF | c.1579T>G (p.Tyr527Asp) n.420+52516T>G | |
12 | g.6057999A>G | CA383498320 | VWF | c.1579T>C (p.Tyr527His) n.420+52516T>C | |
12 | g.6057999A>T | CA383498319 | VWF | c.1579T>A (p.Tyr527Asn) n.420+52516T>A | |
12 | g.6058000A>C | CA383498321 | VWF | c.1578T>G (p.Asn526Lys) n.420+52515T>G | |
12 | g.6058000A>G | CA478104073 | VWF | c.1578T>C (p.Asn526=) n.420+52515T>C | |
12 | g.6058000A>T | CA383498322 | VWF | c.1578T>A (p.Asn526Lys) n.420+52515T>A | |
12 | g.6058001T>A | CA383498323 | VWF | c.1577A>T (p.Asn526Ile) n.420+52514A>T | |
12 | g.6058001T>C | CA383498324 | VWF | c.1577A>G (p.Asn526Ser) n.420+52514A>G | |
12 | g.6058001T>G | CA383498325 | VWF | c.1577A>C (p.Asn526Thr) n.420+52514A>C | |
12 | g.6058002T>A | CA383498326 | VWF | c.1576A>T (p.Asn526Tyr) n.420+52513A>T | |
12 | g.6058002T>C | CA383498327 | VWF | c.1576A>G (p.Asn526Asp) n.420+52513A>G | |
12 | g.6058002T>G | CA383498328 | VWF | c.1576A>C (p.Asn526His) n.420+52513A>C | |
12 | g.6058003C>A | CA6403337 | VWF | c.1575G>T (p.Gly525=) n.420+52512G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6058003C= | CA2013892209 | VWF | c.1575G= (p.Gly525=) n.420+52512G= | |
12 | g.6058003C>G | CA478104074 | VWF | c.1575G>C (p.Gly525=) n.420+52512G>C | |
12 | g.6058003C>T | CA6403336 | VWF | c.1575G>A (p.Gly525=) n.420+52512G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6058004C>A | CA383498331 | VWF | c.1574G>T (p.Gly525Val) n.420+52511G>T | |
12 | g.6058004C>G | CA383498330 | VWF | c.1574G>C (p.Gly525Ala) n.420+52511G>C | |
12 | g.6058004C>T | CA383498329 | VWF | c.1574G>A (p.Gly525Glu) n.420+52511G>A | ClinVar dbSNP |
12 | g.6058005C>A | CA383498332 | VWF | c.1573G>T (p.Gly525Trp) n.420+52510G>T | gnomAD v4 |
12 | g.6058005C= | CA2013892212 | VWF | c.1573G= (p.Gly525=) n.420+52510G= | |
12 | g.6058005C>G | CA383498333 | VWF | c.1573G>C (p.Gly525Arg) n.420+52510G>C | ClinVar |
12 | g.6058005C>T | CA228277 | VWF | c.1573G>A (p.Gly525Arg) n.420+52510G>A | ClinVar dbSNP |
12 | g.6058006A>C | CA383498334 | VWF | c.1572T>G (p.Cys524Trp) n.420+52509T>G | |
12 | g.6058006A>G | CA478104075 | VWF | c.1572T>C (p.Cys524=) n.420+52509T>C | gnomAD v4 |
12 | g.6058006A>T | CA383498335 | VWF | c.1572T>A (p.Cys524Ter) n.420+52509T>A | |
12 | g.6058007C>A | CA383498336 | VWF | c.1571G>T (p.Cys524Phe) n.420+52508G>T | |
12 | g.6058007C= | CA2013892217 | VWF | c.1571G= (p.Cys524=) n.420+52508G= | |
12 | g.6058007C>G | CA383498337 | VWF | c.1571G>C (p.Cys524Ser) n.420+52508G>C | |
12 | g.6058007C>T | CA232310729 | VWF | c.1571G>A (p.Cys524Tyr) n.420+52508G>A | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6058008A>C | CA383498338 | VWF | c.1570T>G (p.Cys524Gly) n.420+52507T>G | |
12 | g.6058008A>G | CA383498339 | VWF | c.1570T>C (p.Cys524Arg) n.420+52507T>C | |
12 | g.6058008A>T | CA383498340 | VWF | c.1570T>A (p.Cys524Ser) n.420+52507T>A | |
12 | g.6058009C>A | CA478104076 | VWF | c.1569G>T (p.Leu523=) n.420+52506G>T | |
12 | g.6058009C= | CA2013892219 | VWF | c.1569G= (p.Leu523=) n.420+52506G= | |
12 | g.6058009C>G | CA478104077 | VWF | c.1569G>C (p.Leu523=) n.420+52506G>C | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6058009C>T | CA478104078 | VWF | c.1569G>A (p.Leu523=) n.420+52506G>A | |
12 | g.6058010A>C | CA383498341 | VWF | c.1568T>G (p.Leu523Arg) n.420+52505T>G | |
12 | g.6058010A>G | CA383498342 | VWF | c.1568T>C (p.Leu523Pro) n.420+52505T>C | |
12 | g.6058010A>T | CA383498343 | VWF | c.1568T>A (p.Leu523Gln) n.420+52505T>A | |
12 | g.6058011G>A | CA478104079 | VWF | c.1567C>T (p.Leu523=) n.420+52504C>T | |
12 | g.6058011G>C | CA383498344 | VWF | c.1567C>G (p.Leu523Val) n.420+52504C>G | |
12 | g.6058011G>T | CA383498345 | VWF | c.1567C>A (p.Leu523Met) n.420+52504C>A | |
12 | g.6058012G>A | CA478104080 | VWF | c.1566C>T (p.Gly522=) n.420+52503C>T | |
12 | g.6058012G>C | CA478104081 | VWF | c.1566C>G (p.Gly522=) n.420+52503C>G | |
12 | g.6058012G>T | CA478104082 | VWF | c.1566C>A (p.Gly522=) n.420+52503C>A | |
12 | g.6058013C>A | CA383498346 | VWF | c.1565G>T (p.Gly522Val) n.420+52502G>T | |
12 | g.6058013C>G | CA383498347 | VWF | c.1565G>C (p.Gly522Ala) n.420+52502G>C | |
12 | g.6058013C>T | CA383498348 | VWF | c.1565G>A (p.Gly522Asp) n.420+52502G>A | |
12 | g.6058014C>A | CA383498349 | VWF | c.1564G>T (p.Gly522Cys) n.420+52501G>T | |
12 | g.6058014C>G | CA383498350 | VWF | c.1564G>C (p.Gly522Arg) n.420+52501G>C | |
12 | g.6058014C>T | CA383498351 | VWF | c.1564G>A (p.Gly522Ser) n.420+52501G>A | gnomAD v4 |
12 | g.6058015G>A | CA6403338 | VWF | c.1563C>T (p.Cys521=) n.420+52500C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6058015G>C | CA383498352 | VWF | c.1563C>G (p.Cys521Trp) n.420+52500C>G | |
12 | g.6058015G= | CA2013892230 | VWF | c.1563C= (p.Cys521=) n.420+52500C= | |
12 | g.6058015G>T | CA383498353 | VWF | c.1563C>A (p.Cys521Ter) n.420+52500C>A | |
12 | g.6058015_6058016delinsAG | CA645509534 | VWF | c.1562_1563delinsCT (p.Cys521Ser) n.420+52499_420+52500delinsCT | ClinVar dbSNP |
12 | g.6058015_6058016delinsGC | CA2013892226 | VWF | c.1562_1563delinsGC (p.Cys521=) n.420+52499_420+52500delinsGC | |
12 | g.6058016C>A | CA383498354 | VWF | c.1562G>T (p.Cys521Phe) n.420+52499G>T | |
12 | g.6058016C= | CA2013892236 | VWF | c.1562G= (p.Cys521=) n.420+52499G= | |
12 | g.6058016C>G | CA6403339 | VWF | c.1562G>C (p.Cys521Ser) n.420+52499G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6058016C>T | CA383498355 | VWF | c.1562G>A (p.Cys521Tyr) n.420+52499G>A | |
12 | g.6058017A>C | CA383498357 | VWF | c.1561T>G (p.Cys521Gly) n.420+52498T>G | gnomAD v4 |
12 | g.6058017A>G | CA383498358 | VWF | c.1561T>C (p.Cys521Arg) n.420+52498T>C | gnomAD v4 |
12 | g.6058017A>T | CA383498356 | VWF | c.1561T>A (p.Cys521Ser) n.420+52498T>A | |
12 | g.6058018G>A | CA478104083 | VWF | c.1560C>T (p.Thr520=) n.420+52497C>T | dbSNP |
12 | g.6058018G>C | CA478104084 | VWF | c.1560C>G (p.Thr520=) n.420+52497C>G | |
12 | g.6058018G= | CA2013892240 | VWF | c.1560C= (p.Thr520=) n.420+52497C= | |
12 | g.6058018G>T | CA478104085 | VWF | c.1560C>A (p.Thr520=) n.420+52497C>A | |
12 | g.6058019G>A | CA383498360 | VWF | c.1559C>T (p.Thr520Ile) n.420+52496C>T | |
12 | g.6058019G>C | CA383498359 | VWF | c.1559C>G (p.Thr520Ser) n.420+52496C>G | |
12 | g.6058019G>T | CA383498361 | VWF | c.1559C>A (p.Thr520Asn) n.420+52496C>A | |
12 | g.6058020T>A | CA383498362 | VWF | c.1558A>T (p.Thr520Ser) n.420+52495A>T | |
12 | g.6058020T>C | CA383498364 | VWF | c.1558A>G (p.Thr520Ala) n.420+52495A>G | |
12 | g.6058020T>G | CA383498363 | VWF | c.1558A>C (p.Thr520Pro) n.420+52495A>C | |
12 | g.6058021C>A | CA383498365 | VWF | c.1557G>T (p.Lys519Asn) n.420+52494G>T | |
12 | g.6058021C>G | CA383498366 | VWF | c.1557G>C (p.Lys519Asn) n.420+52494G>C | gnomAD v4 |
12 | g.6058021C>T | CA478104086 | VWF | c.1557G>A (p.Lys519=) n.420+52494G>A |