Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.51141775T>ACA495781504SALL1c.447A>T (p.Pro149=)
c.156A>T (p.Pro52=)
c.77-4223A>T (n.77-4223A>T)
16g.51141775T>CCA495781505SALL1c.447A>G (p.Pro149=)
c.156A>G (p.Pro52=)
c.77-4223A>G (n.77-4223A>G)
 gnomAD v4
16g.51141775T>GCA495781506SALL1c.447A>C (p.Pro149=)
c.156A>C (p.Pro52=)
c.77-4223A>C (n.77-4223A>C)
16g.51141775_51141778delCA2633181117SALL1c.444_447del (p.Pro149AlafsTer?)
c.153_156del (p.Pro52AlafsTer?)
c.77-4226_77-4223del (n.77-4226_77-4223del)
 gnomAD v4
16g.51141775_51141792delCA2633181118SALL1c.430_447del (p.His144_Pro149del)
c.139_156del (p.His47_Pro52del)
c.77-4240_77-4223del (n.77-4240_77-4223del)
 gnomAD v4
16g.51141776G>ACA395891946SALL1c.446C>T (p.Pro149Leu)
c.155C>T (p.Pro52Leu)
c.77-4224C>T (n.77-4224C>T)
16g.51141776G>CCA395891949SALL1c.446C>G (p.Pro149Arg)
c.155C>G (p.Pro52Arg)
c.77-4224C>G (n.77-4224C>G)
 gnomAD v4
16g.51141776G>TCA395891952SALL1c.446C>A (p.Pro149Gln)
c.155C>A (p.Pro52Gln)
c.77-4224C>A (n.77-4224C>A)
16g.51141777G>ACA395891954SALL1c.445C>T (p.Pro149Ser)
c.154C>T (p.Pro52Ser)
c.77-4225C>T (n.77-4225C>T)
 gnomAD v4
16g.51141777G>CCA395891958SALL1c.445C>G (p.Pro149Ala)
c.154C>G (p.Pro52Ala)
c.77-4225C>G (n.77-4225C>G)
16g.51141777G>TCA395891955SALL1c.445C>A (p.Pro149Thr)
c.154C>A (p.Pro52Thr)
c.77-4225C>A (n.77-4225C>A)
16g.51141778G>ACA495781507SALL1c.444C>T (p.Ala148=)
c.153C>T (p.Ala51=)
c.77-4226C>T (n.77-4226C>T)
16g.51141778G>CCA495781508SALL1c.444C>G (p.Ala148=)
c.153C>G (p.Ala51=)
c.77-4226C>G (n.77-4226C>G)
16g.51141778G=CA2222023069SALL1c.444C= (p.Ala148=)
c.153C= (p.Ala51=)
c.77-4226C= (n.77-4226C=)
16g.51141778G>TCA495781509SALL1c.444C>A (p.Ala148=)
c.153C>A (p.Ala51=)
c.77-4226C>A (n.77-4226C>A)
 dbSNP gnomAD v3 gnomAD v4
16g.51141779G>ACA8053478SALL1c.443C>T (p.Ala148Val)
c.152C>T (p.Ala51Val)
c.77-4227C>T (n.77-4227C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51141779G>CCA395891962SALL1c.443C>G (p.Ala148Gly)
c.152C>G (p.Ala51Gly)
c.77-4227C>G (n.77-4227C>G)
16g.51141779G=CA2222023072SALL1c.443C= (p.Ala148=)
c.152C= (p.Ala51=)
c.77-4227C= (n.77-4227C=)
16g.51141779G>TCA395891965SALL1c.443C>A (p.Ala148Asp)
c.152C>A (p.Ala51Asp)
c.77-4227C>A (n.77-4227C>A)
 gnomAD v4
16g.51141780C>ACA281303160SALL1c.442G>T (p.Ala148Ser)
c.151G>T (p.Ala51Ser)
c.77-4228G>T (n.77-4228G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.51141780C=CA2222023093SALL1c.442G= (p.Ala148=)
c.151G= (p.Ala51=)
c.77-4228G= (n.77-4228G=)
16g.51141780C>GCA395891968SALL1c.442G>C (p.Ala148Pro)
c.151G>C (p.Ala51Pro)
c.77-4228G>C (n.77-4228G>C)
16g.51141780C>TCA8053479SALL1c.442G>A (p.Ala148Thr)
c.151G>A (p.Ala51Thr)
c.77-4228G>A (n.77-4228G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51141781G>ACA8053480SALL1c.441C>T (p.Thr147=)
c.150C>T (p.Thr50=)
c.77-4229C>T (n.77-4229C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51141781G>CCA495781510SALL1c.441C>G (p.Thr147=)
c.150C>G (p.Thr50=)
c.77-4229C>G (n.77-4229C>G)
 dbSNP gnomAD v2 gnomAD v4
16g.51141781G=CA2222023096SALL1c.441C= (p.Thr147=)
c.150C= (p.Thr50=)
c.77-4229C= (n.77-4229C=)
16g.51141781G>TCA495781511SALL1c.441C>A (p.Thr147=)
c.150C>A (p.Thr50=)
c.77-4229C>A (n.77-4229C>A)
16g.51141781_51141782delCA2633181119SALL1c.440_441del (p.Thr147SerfsTer?)
c.149_150del (p.Thr50SerfsTer?)
c.77-4230_77-4229del (n.77-4230_77-4229del)
 gnomAD v4
16g.51141782G>ACA395891974SALL1c.440C>T (p.Thr147Ile)
c.149C>T (p.Thr50Ile)
c.77-4230C>T (n.77-4230C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.51141782G>CCA395891976SALL1c.440C>G (p.Thr147Ser)
c.149C>G (p.Thr50Ser)
c.77-4230C>G (n.77-4230C>G)
 gnomAD v4
16g.51141782G=CA2222023102SALL1c.440C= (p.Thr147=)
c.149C= (p.Thr50=)
c.77-4230C= (n.77-4230C=)
16g.51141782G>TCA395891977SALL1c.440C>A (p.Thr147Asn)
c.149C>A (p.Thr50Asn)
c.77-4230C>A (n.77-4230C>A)
16g.51141783T>ACA395891979SALL1c.439A>T (p.Thr147Ser)
c.148A>T (p.Thr50Ser)
c.77-4231A>T (n.77-4231A>T)
16g.51141783T>CCA395891982SALL1c.439A>G (p.Thr147Ala)
c.148A>G (p.Thr50Ala)
c.77-4231A>G (n.77-4231A>G)
 dbSNP
16g.51141783T>GCA395891983SALL1c.439A>C (p.Thr147Pro)
c.148A>C (p.Thr50Pro)
c.77-4231A>C (n.77-4231A>C)
16g.51141783T=CA2222023107SALL1c.439A= (p.Thr147=)
c.148A= (p.Thr50=)
c.77-4231A= (n.77-4231A=)
16g.51141784A>CCA395891985SALL1c.438T>G (p.Ser146Arg)
c.147T>G (p.Ser49Arg)
c.77-4232T>G (n.77-4232T>G)
16g.51141784A>GCA495781512SALL1c.438T>C (p.Ser146=)
c.147T>C (p.Ser49=)
c.77-4232T>C (n.77-4232T>C)
16g.51141784A>TCA395891987SALL1c.438T>A (p.Ser146Arg)
c.147T>A (p.Ser49Arg)
c.77-4232T>A (n.77-4232T>A)
16g.51141785C>ACA395891990SALL1c.437G>T (p.Ser146Ile)
c.146G>T (p.Ser49Ile)
c.77-4233G>T (n.77-4233G>T)
16g.51141785C>GCA395891991SALL1c.437G>C (p.Ser146Thr)
c.146G>C (p.Ser49Thr)
c.77-4233G>C (n.77-4233G>C)
16g.51141785C>TCA395891994SALL1c.437G>A (p.Ser146Asn)
c.146G>A (p.Ser49Asn)
c.77-4233G>A (n.77-4233G>A)
16g.51141786T>ACA8053481SALL1c.436A>T (p.Ser146Cys)
c.145A>T (p.Ser49Cys)
c.77-4234A>T (n.77-4234A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.51141786T>CCA281303163SALL1c.436A>G (p.Ser146Gly)
c.145A>G (p.Ser49Gly)
c.77-4234A>G (n.77-4234A>G)
 dbSNP gnomAD v3 gnomAD v4
16g.51141786T>GCA395891997SALL1c.436A>C (p.Ser146Arg)
c.145A>C (p.Ser49Arg)
c.77-4234A>C (n.77-4234A>C)
 dbSNP
16g.51141786T=CA2222023117SALL1c.436A= (p.Ser146=)
c.145A= (p.Ser49=)
c.77-4234A= (n.77-4234A=)
16g.51141787G>ACA495781513SALL1c.435C>T (p.Ser145=)
c.144C>T (p.Ser48=)
c.77-4235C>T (n.77-4235C>T)
16g.51141787G>CCA395891999SALL1c.435C>G (p.Ser145Arg)
c.144C>G (p.Ser48Arg)
c.77-4235C>G (n.77-4235C>G)
16g.51141787G>TCA395892002SALL1c.435C>A (p.Ser145Arg)
c.144C>A (p.Ser48Arg)
c.77-4235C>A (n.77-4235C>A)
 gnomAD v4
16g.51141788C>ACA395892003SALL1c.434G>T (p.Ser145Ile)
c.143G>T (p.Ser48Ile)
c.77-4236G>T (n.77-4236G>T)
 dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched