Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.64772879C>ACA390041319SPTBc.5254G>T (p.Ala1752Ser)
c.1249G>T (p.Ala417Ser)
14g.64772879C>GCA390041320SPTBc.5254G>C (p.Ala1752Pro)
c.1249G>C (p.Ala417Pro)
14g.64772879C>TCA390041321SPTBc.5254G>A (p.Ala1752Thr)
c.1249G>A (p.Ala417Thr)
 gnomAD v4
14g.64772880A=CA2142804337SPTBc.5253T= (p.Asn1751=)
c.1248T= (p.Asn416=)
14g.64772880A>CCA390041322SPTBc.5253T>G (p.Asn1751Lys)
c.1248T>G (p.Asn416Lys)
14g.64772880A>GCA486968144SPTBc.5253T>C (p.Asn1751=)
c.1248T>C (p.Asn416=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.64772880A>TCA390041323SPTBc.5253T>A (p.Asn1751Lys)
c.1248T>A (p.Asn416Lys)
14g.64772881T>ACA390041325SPTBc.5252A>T (p.Asn1751Ile)
c.1247A>T (p.Asn416Ile)
 gnomAD v4
14g.64772881T>CCA7230015SPTBc.5252A>G (p.Asn1751Ser)
c.1247A>G (p.Asn416Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.64772881T>GCA390041324SPTBc.5252A>C (p.Asn1751Thr)
c.1247A>C (p.Asn416Thr)
14g.64772881T=CA2142804344SPTBc.5252A= (p.Asn1751=)
c.1247A= (p.Asn416=)
14g.64772882T>ACA390041326SPTBc.5251A>T (p.Asn1751Tyr)
c.1246A>T (p.Asn416Tyr)
14g.64772882T>CCA390041327SPTBc.5251A>G (p.Asn1751Asp)
c.1246A>G (p.Asn416Asp)
14g.64772882T>GCA390041328SPTBc.5251A>C (p.Asn1751His)
c.1246A>C (p.Asn416His)
14g.64772883C>ACA486968150SPTBc.5250G>T (p.Val1750=)
c.1245G>T (p.Val415=)
14g.64772883C>GCA486968151SPTBc.5250G>C (p.Val1750=)
c.1245G>C (p.Val415=)
14g.64772883C>TCA486968152SPTBc.5250G>A (p.Val1750=)
c.1245G>A (p.Val415=)
14g.64772884A>CCA390041329SPTBc.5249T>G (p.Val1750Gly)
c.1244T>G (p.Val415Gly)
 gnomAD v4
14g.64772884A>GCA390041330SPTBc.5249T>C (p.Val1750Ala)
c.1244T>C (p.Val415Ala)
14g.64772884A>TCA390041331SPTBc.5249T>A (p.Val1750Glu)
c.1244T>A (p.Val415Glu)
14g.64772885C>ACA390041333SPTBc.5248G>T (p.Val1750Leu)
c.1243G>T (p.Val415Leu)
14g.64772885C>GCA390041334SPTBc.5248G>C (p.Val1750Leu)
c.1243G>C (p.Val415Leu)
14g.64772885C>TCA390041332SPTBc.5248G>A (p.Val1750Met)
c.1243G>A (p.Val415Met)
 gnomAD v4
14g.64772886A=CA2142804346SPTBc.5247T= (p.Asn1749=)
c.1242T= (p.Asn414=)
14g.64772886A>CCA390041335SPTBc.5247T>G (p.Asn1749Lys)
c.1242T>G (p.Asn414Lys)
14g.64772886A>GCA7230016SPTBc.5247T>C (p.Asn1749=)
c.1242T>C (p.Asn414=)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.64772886A>TCA390041336SPTBc.5247T>A (p.Asn1749Lys)
c.1242T>A (p.Asn414Lys)
14g.64772887T>ACA390041337SPTBc.5246A>T (p.Asn1749Ile)
c.1241A>T (p.Asn414Ile)
14g.64772887T>CCA7230017SPTBc.5246A>G (p.Asn1749Ser)
c.1241A>G (p.Asn414Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.64772887T>GCA390041338SPTBc.5246A>C (p.Asn1749Thr)
c.1241A>C (p.Asn414Thr)
14g.64772887T=CA2142804353SPTBc.5246A= (p.Asn1749=)
c.1241A= (p.Asn414=)
14g.64772888T>ACA390041340SPTBc.5245A>T (p.Asn1749Tyr)
c.1240A>T (p.Asn414Tyr)
14g.64772888T>CCA7230018SPTBc.5245A>G (p.Asn1749Asp)
c.1240A>G (p.Asn414Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.64772888T>GCA390041339SPTBc.5245A>C (p.Asn1749His)
c.1240A>C (p.Asn414His)
14g.64772888T=CA2142804356SPTBc.5245A= (p.Asn1749=)
c.1240A= (p.Asn414=)
14g.64772889G>ACA486968162SPTBc.5244C>T (p.Asp1748=)
c.1239C>T (p.Asp413=)
14g.64772889G>CCA390041341SPTBc.5244C>G (p.Asp1748Glu)
c.1239C>G (p.Asp413Glu)
14g.64772889G>TCA390041342SPTBc.5244C>A (p.Asp1748Glu)
c.1239C>A (p.Asp413Glu)
14g.64772890T>ACA390041343SPTBc.5243A>T (p.Asp1748Val)
c.1238A>T (p.Asp413Val)
14g.64772890T>CCA390041344SPTBc.5243A>G (p.Asp1748Gly)
c.1238A>G (p.Asp413Gly)
 gnomAD v4
14g.64772890T>GCA390041345SPTBc.5243A>C (p.Asp1748Ala)
c.1238A>C (p.Asp413Ala)
14g.64772890_64772891insTTCA2573053932SPTBc.5243_5244insAA (p.Asp1748GlufsTer4)
c.1238_1239insAA (p.Asp413GlufsTer4)
 ClinVar dbSNP
14g.64772891C>ACA390041348SPTBc.5242G>T (p.Asp1748Tyr)
c.1237G>T (p.Asp413Tyr)
14g.64772891C>GCA390041346SPTBc.5242G>C (p.Asp1748His)
c.1237G>C (p.Asp413His)
 gnomAD v4
14g.64772891C>TCA390041347SPTBc.5242G>A (p.Asp1748Asn)
c.1237G>A (p.Asp413Asn)
14g.64772892C>ACA486968169SPTBc.5241G>T (p.Val1747=)
c.1236G>T (p.Val412=)
14g.64772892C>GCA486968170SPTBc.5241G>C (p.Val1747=)
c.1236G>C (p.Val412=)
14g.64772892C>TCA486968171SPTBc.5241G>A (p.Val1747=)
c.1236G>A (p.Val412=)
14g.64772893A>CCA390041349SPTBc.5240T>G (p.Val1747Gly)
c.1235T>G (p.Val412Gly)
14g.64772893A>GCA390041350SPTBc.5240T>C (p.Val1747Ala)
c.1235T>C (p.Val412Ala)
14g.64772893A>TCA390041351SPTBc.5240T>A (p.Val1747Glu)
c.1235T>A (p.Val412Glu)
14g.64772894C>ACA390041352SPTBc.5239G>T (p.Val1747Leu)
c.1234G>T (p.Val412Leu)
14g.64772894C=CA2142804358SPTBc.5239G= (p.Val1747=)
c.1234G= (p.Val412=)
14g.64772894C>GCA390041353SPTBc.5239G>C (p.Val1747Leu)
c.1234G>C (p.Val412Leu)
14g.64772894C>TCA390041354SPTBc.5239G>A (p.Val1747Met)
c.1234G>A (p.Val412Met)
 dbSNP gnomAD v4
14g.64772896delCA2695219409SPTBc.5239del (p.Val1747TrpfsTer4)
c.1234del (p.Val412TrpfsTer4)
14g.64772895C>ACA486968178SPTBc.5238G>T (p.Arg1746=)
c.1233G>T (p.Arg411=)
14g.64772895C>GCA486968176SPTBc.5238G>C (p.Arg1746=)
c.1233G>C (p.Arg411=)
14g.64772895C>TCA486968175SPTBc.5238G>A (p.Arg1746=)
c.1233G>A (p.Arg411=)
14g.64772896C>ACA390041355SPTBc.5237G>T (p.Arg1746Leu)
c.1232G>T (p.Arg411Leu)
 gnomAD v4
14g.64772896C=CA2142804362SPTBc.5237G= (p.Arg1746=)
c.1232G= (p.Arg411=)
14g.64772896C>GCA390041356SPTBc.5237G>C (p.Arg1746Pro)
c.1232G>C (p.Arg411Pro)
14g.64772896C>TCA7230019SPTBc.5237G>A (p.Arg1746Gln)
c.1232G>A (p.Arg411Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.64772897G>ACA7230020SPTBc.5236C>T (p.Arg1746Trp)
c.1231C>T (p.Arg411Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.64772897G>CCA390041357SPTBc.5236C>G (p.Arg1746Gly)
c.1231C>G (p.Arg411Gly)
14g.64772897G=CA2142804482SPTBc.5236C= (p.Arg1746=)
c.1231C= (p.Arg411=)
14g.64772897G>TCA486968179SPTBc.5236C>A (p.Arg1746=)
c.1231C>A (p.Arg411=)
 gnomAD v4
14g.64772898C>ACA390041358SPTBc.5235G>T (p.Glu1745Asp)
c.1230G>T (p.Glu410Asp)
 gnomAD v4
14g.64772898C>GCA390041359SPTBc.5235G>C (p.Glu1745Asp)
c.1230G>C (p.Glu410Asp)
14g.64772898C>TCA486968180SPTBc.5235G>A (p.Glu1745=)
c.1230G>A (p.Glu410=)
14g.64772899T>ACA390041360SPTBc.5234A>T (p.Glu1745Val)
c.1229A>T (p.Glu410Val)
14g.64772899T>CCA390041362SPTBc.5234A>G (p.Glu1745Gly)
c.1229A>G (p.Glu410Gly)
14g.64772899T>GCA390041361SPTBc.5234A>C (p.Glu1745Ala)
c.1229A>C (p.Glu410Ala)
14g.64772900C>ACA390041363SPTBc.5233G>T (p.Glu1745Ter)
c.1228G>T (p.Glu410Ter)
14g.64772900C=CA2142804490SPTBc.5233G= (p.Glu1745=)
c.1228G= (p.Glu410=)
14g.64772900C>GCA262689418SPTBc.5233G>C (p.Glu1745Gln)
c.1228G>C (p.Glu410Gln)
 ClinVar dbSNP gnomAD v3 gnomAD v4
14g.64772900C>TCA390041364SPTBc.5233G>A (p.Glu1745Lys)
c.1228G>A (p.Glu410Lys)
14g.64772901C>ACA390041365SPTBc.5232G>T (p.Gln1744His)
c.1227G>T (p.Gln409His)
14g.64772901C>GCA390041366SPTBc.5232G>C (p.Gln1744His)
c.1227G>C (p.Gln409His)
14g.64772901C>TCA486968185SPTBc.5232G>A (p.Gln1744=)
c.1227G>A (p.Gln409=)
14g.64772902T>ACA390041367SPTBc.5231A>T (p.Gln1744Leu)
c.1226A>T (p.Gln409Leu)
14g.64772902T>CCA390041368SPTBc.5231A>G (p.Gln1744Arg)
c.1226A>G (p.Gln409Arg)
14g.64772902T>GCA390041369SPTBc.5231A>C (p.Gln1744Pro)
c.1226A>C (p.Gln409Pro)
14g.64772903G>ACA390041370SPTBc.5230C>T (p.Gln1744Ter)
c.1225C>T (p.Gln409Ter)
14g.64772903G>CCA390041371SPTBc.5230C>G (p.Gln1744Glu)
c.1225C>G (p.Gln409Glu)
14g.64772903G>TCA390041372SPTBc.5230C>A (p.Gln1744Lys)
c.1225C>A (p.Gln409Lys)
 COSMIC COSMIC
14g.64772904C>ACA486968188SPTBc.5229G>T (p.Gly1743=)
c.1224G>T (p.Gly408=)
14g.64772904C=CA2142804492SPTBc.5229G= (p.Gly1743=)
c.1224G= (p.Gly408=)
14g.64772904C>GCA486968191SPTBc.5229G>C (p.Gly1743=)
c.1224G>C (p.Gly408=)
14g.64772904C>TCA7230021SPTBc.5229G>A (p.Gly1743=)
c.1224G>A (p.Gly408=)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.64772905C>ACA390041374SPTBc.5228G>T (p.Gly1743Val)
c.1223G>T (p.Gly408Val)
14g.64772905C>GCA390041375SPTBc.5228G>C (p.Gly1743Ala)
c.1223G>C (p.Gly408Ala)
14g.64772905C>TCA390041373SPTBc.5228G>A (p.Gly1743Glu)
c.1223G>A (p.Gly408Glu)
14g.64772906C>ACA390041376SPTBc.5227G>T (p.Gly1743Trp)
c.1222G>T (p.Gly408Trp)
14g.64772906C>GCA390041377SPTBc.5227G>C (p.Gly1743Arg)
c.1222G>C (p.Gly408Arg)
14g.64772906C>TCA390041378SPTBc.5227G>A (p.Gly1743Arg)
c.1222G>A (p.Gly408Arg)
 ClinVar gnomAD v4
14g.64772907A=CA2142804496SPTBc.5226T= (p.Ile1742=)
c.1221T= (p.Ile407=)
14g.64772907A>CCA390041379SPTBc.5226T>G (p.Ile1742Met)
c.1221T>G (p.Ile407Met)
14g.64772907A>GCA262689431SPTBc.5226T>C (p.Ile1742=)
c.1221T>C (p.Ile407=)
 dbSNP
14g.64772907A>TCA486968193SPTBc.5226T>A (p.Ile1742=)
c.1221T>A (p.Ile407=)
 gnomAD v4
14g.64772908A=CA2142804498SPTBc.5225T= (p.Ile1742=)
c.1220T= (p.Ile407=)
14g.64772908A>CCA390041382SPTBc.5225T>G (p.Ile1742Ser)
c.1220T>G (p.Ile407Ser)
14g.64772908A>GCA390041381SPTBc.5225T>C (p.Ile1742Thr)
c.1220T>C (p.Ile407Thr)
 dbSNP gnomAD v4
14g.64772908A>TCA390041380SPTBc.5225T>A (p.Ile1742Asn)
c.1220T>A (p.Ile407Asn)
14g.64772909T>ACA390041383SPTBc.5224A>T (p.Ile1742Phe)
c.1219A>T (p.Ile407Phe)
14g.64772909T>CCA390041384SPTBc.5224A>G (p.Ile1742Val)
c.1219A>G (p.Ile407Val)
14g.64772909T>GCA390041385SPTBc.5224A>C (p.Ile1742Leu)
c.1219A>C (p.Ile407Leu)
14g.64772910C>ACA486968195SPTBc.5223G>T (p.Ala1741=)
c.1218G>T (p.Ala406=)
 gnomAD v4
14g.64772910C=CA2142804500SPTBc.5223G= (p.Ala1741=)
c.1218G= (p.Ala406=)
14g.64772910C>GCA486968196SPTBc.5223G>C (p.Ala1741=)
c.1218G>C (p.Ala406=)
14g.64772910C>TCA7230022SPTBc.5223G>A (p.Ala1741=)
c.1218G>A (p.Ala406=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.64772911G>ACA7230023SPTBc.5222C>T (p.Ala1741Val)
c.1217C>T (p.Ala406Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.64772911G>CCA390041386SPTBc.5222C>G (p.Ala1741Gly)
c.1217C>G (p.Ala406Gly)
14g.64772911G=CA2142804504SPTBc.5222C= (p.Ala1741=)
c.1217C= (p.Ala406=)
14g.64772911G>TCA390041387SPTBc.5222C>A (p.Ala1741Glu)
c.1217C>A (p.Ala406Glu)
 gnomAD v4
14g.64772912C>ACA390041389SPTBc.5221G>T (p.Ala1741Ser)
c.1216G>T (p.Ala406Ser)
14g.64772912C=CA2142804508SPTBc.5221G= (p.Ala1741=)
c.1216G= (p.Ala406=)
14g.64772912C>GCA390041390SPTBc.5221G>C (p.Ala1741Pro)
c.1216G>C (p.Ala406Pro)
14g.64772912C>TCA390041388SPTBc.5221G>A (p.Ala1741Thr)
c.1216G>A (p.Ala406Thr)
 dbSNP gnomAD v3 gnomAD v4
14g.64772915delCA2625265615SPTBc.5221del (p.Ala1741ArgfsTer10)
c.1216del (p.Ala406ArgfsTer10)
 gnomAD v4
14g.64772913C>ACA486968202SPTBc.5220G>T (p.Gly1740=)
c.1215G>T (p.Gly405=)
14g.64772913C>GCA486968203SPTBc.5220G>C (p.Gly1740=)
c.1215G>C (p.Gly405=)
14g.64772913C>TCA486968205SPTBc.5220G>A (p.Gly1740=)
c.1215G>A (p.Gly405=)
14g.64772914C>ACA390041391SPTBc.5219G>T (p.Gly1740Val)
c.1214G>T (p.Gly405Val)
14g.64772914C>GCA390041393SPTBc.5219G>C (p.Gly1740Ala)
c.1214G>C (p.Gly405Ala)
14g.64772914C>TCA390041392SPTBc.5219G>A (p.Gly1740Glu)
c.1214G>A (p.Gly405Glu)
 COSMIC COSMIC
14g.64772915C>ACA390041394SPTBc.5218G>T (p.Gly1740Trp)
c.1213G>T (p.Gly405Trp)
 gnomAD v4
14g.64772915C=CA2142804514SPTBc.5218G= (p.Gly1740=)
c.1213G= (p.Gly405=)
14g.64772915C>GCA390041395SPTBc.5218G>C (p.Gly1740Arg)
c.1213G>C (p.Gly405Arg)
14g.64772915C>TCA262689487SPTBc.5218G>A (p.Gly1740Arg)
c.1213G>A (p.Gly405Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.64772916G>ACA7230024SPTBc.5217C>T (p.Thr1739=)
c.1212C>T (p.Thr404=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.64772916G>CCA7230025SPTBc.5217C>G (p.Thr1739=)
c.1212C>G (p.Thr404=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.64772916G=CA2142804520SPTBc.5217C= (p.Thr1739=)
c.1212C= (p.Thr404=)
14g.64772916G>TCA486968208SPTBc.5217C>A (p.Thr1739=)
c.1212C>A (p.Thr404=)
 gnomAD v4
14g.64772917G>ACA390041396SPTBc.5216C>T (p.Thr1739Ile)
c.1211C>T (p.Thr404Ile)
14g.64772917G>CCA390041398SPTBc.5216C>G (p.Thr1739Ser)
c.1211C>G (p.Thr404Ser)
14g.64772917G>TCA390041397SPTBc.5216C>A (p.Thr1739Asn)
c.1211C>A (p.Thr404Asn)
14g.64772918T>ACA390041399SPTBc.5215A>T (p.Thr1739Ser)
c.1210A>T (p.Thr404Ser)
14g.64772918T>CCA390041400SPTBc.5215A>G (p.Thr1739Ala)
c.1210A>G (p.Thr404Ala)
14g.64772918T>GCA390041401SPTBc.5215A>C (p.Thr1739Pro)
c.1210A>C (p.Thr404Pro)
14g.64772919C>ACA390041402SPTBc.5214G>T (p.Glu1738Asp)
c.1209G>T (p.Glu403Asp)
 gnomAD v4
14g.64772919C>GCA390041403SPTBc.5214G>C (p.Glu1738Asp)
c.1209G>C (p.Glu403Asp)
14g.64772919C>TCA486968218SPTBc.5214G>A (p.Glu1738=)
c.1209G>A (p.Glu403=)
 gnomAD v4
14g.64772920T>ACA390041404SPTBc.5213A>T (p.Glu1738Val)
c.1208A>T (p.Glu403Val)
14g.64772920T>CCA390041405SPTBc.5213A>G (p.Glu1738Gly)
c.1208A>G (p.Glu403Gly)
14g.64772920T>GCA390041406SPTBc.5213A>C (p.Glu1738Ala)
c.1208A>C (p.Glu403Ala)
14g.64772921C>ACA390041407SPTBc.5212G>T (p.Glu1738Ter)
c.1207G>T (p.Glu403Ter)
14g.64772921C=CA2142804525SPTBc.5212G= (p.Glu1738=)
c.1207G= (p.Glu403=)
14g.64772921C>GCA390041408SPTBc.5212G>C (p.Glu1738Gln)
c.1207G>C (p.Glu403Gln)
14g.64772921C>TCA390041409SPTBc.5212G>A (p.Glu1738Lys)
c.1207G>A (p.Glu403Lys)
 dbSNP gnomAD v4
14g.64772922C>ACA486968224SPTBc.5211G>T (p.Arg1737=)
c.1206G>T (p.Arg402=)
14g.64772922C=CA2142804530SPTBc.5211G= (p.Arg1737=)
c.1206G= (p.Arg402=)
14g.64772922C>GCA486968225SPTBc.5211G>C (p.Arg1737=)
c.1206G>C (p.Arg402=)
14g.64772922C>TCA486968228SPTBc.5211G>A (p.Arg1737=)
c.1206G>A (p.Arg402=)
 ClinVar dbSNP gnomAD v4
14g.64772923C>ACA390041411SPTBc.5210G>T (p.Arg1737Leu)
c.1205G>T (p.Arg402Leu)
 gnomAD v4
14g.64772923C=CA2142804535SPTBc.5210G= (p.Arg1737=)
c.1205G= (p.Arg402=)
14g.64772923C>GCA390041410SPTBc.5210G>C (p.Arg1737Pro)
c.1205G>C (p.Arg402Pro)
14g.64772923C>TCA7230026SPTBc.5210G>A (p.Arg1737Gln)
c.1205G>A (p.Arg402Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.64772924G>ACA7230027SPTBc.5209C>T (p.Arg1737Trp)
c.1204C>T (p.Arg402Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.64772924G>CCA390041412SPTBc.5209C>G (p.Arg1737Gly)
c.1204C>G (p.Arg402Gly)
 gnomAD v4
14g.64772924G=CA2142804541SPTBc.5209C= (p.Arg1737=)
c.1204C= (p.Arg402=)
14g.64772924G>TCA262689552SPTBc.5209C>A (p.Arg1737=)
c.1204C>A (p.Arg402=)
 dbSNP gnomAD v2 gnomAD v4
14g.64772925G>ACA486968233SPTBc.5208C>T (p.Ala1736=)
c.1203C>T (p.Ala401=)
 gnomAD v4
14g.64772925G>CCA486968234SPTBc.5208C>G (p.Ala1736=)
c.1203C>G (p.Ala401=)
 dbSNP gnomAD v4
14g.64772925G=CA2142804544SPTBc.5208C= (p.Ala1736=)
c.1203C= (p.Ala401=)
14g.64772925G>TCA486968235SPTBc.5208C>A (p.Ala1736=)
c.1203C>A (p.Ala401=)
14g.64772926G>ACA390041413SPTBc.5207C>T (p.Ala1736Val)
c.1202C>T (p.Ala401Val)
 dbSNP gnomAD v3 gnomAD v4
14g.64772926G>CCA390041414SPTBc.5207C>G (p.Ala1736Gly)
c.1202C>G (p.Ala401Gly)
 gnomAD v4
14g.64772926G=CA2142804547SPTBc.5207C= (p.Ala1736=)
c.1202C= (p.Ala401=)
14g.64772926G>TCA390041415SPTBc.5207C>A (p.Ala1736Asp)
c.1202C>A (p.Ala401Asp)
 gnomAD v4
14g.64772927C>ACA390041416SPTBc.5206G>T (p.Ala1736Ser)
c.1201G>T (p.Ala401Ser)
 gnomAD v4
14g.64772927C=CA2142804555SPTBc.5206G= (p.Ala1736=)
c.1201G= (p.Ala401=)
14g.64772927C>GCA390041417SPTBc.5206G>C (p.Ala1736Pro)
c.1201G>C (p.Ala401Pro)
14g.64772927C>TCA390041418SPTBc.5206G>A (p.Ala1736Thr)
c.1201G>A (p.Ala401Thr)
 dbSNP gnomAD v2 gnomAD v4
14g.64772928A>CCA390041419SPTBc.5205T>G (p.Phe1735Leu)
c.1200T>G (p.Phe400Leu)
14g.64772928A>GCA486968237SPTBc.5205T>C (p.Phe1735=)
c.1200T>C (p.Phe400=)
14g.64772928A>TCA390041421SPTBc.5205T>A (p.Phe1735Leu)
c.1200T>A (p.Phe400Leu)
14g.64772929A>CCA390041428SPTBc.5204T>G (p.Phe1735Cys)
c.1199T>G (p.Phe400Cys)
14g.64772929A>GCA390041425SPTBc.5204T>C (p.Phe1735Ser)
c.1199T>C (p.Phe400Ser)
14g.64772929A>TCA390041423SPTBc.5204T>A (p.Phe1735Tyr)
c.1199T>A (p.Phe400Tyr)
14g.64772930A>CCA390041435SPTBc.5203T>G (p.Phe1735Val)
c.1198T>G (p.Phe400Val)
14g.64772930A>GCA390041431SPTBc.5203T>C (p.Phe1735Leu)
c.1198T>C (p.Phe400Leu)
14g.64772930A>TCA390041433SPTBc.5203T>A (p.Phe1735Ile)
c.1198T>A (p.Phe400Ile)
14g.64772931G>ACA486968242SPTBc.5202C>T (p.Asp1734=)
c.1197C>T (p.Asp399=)
 gnomAD v4
14g.64772931G>CCA390041437SPTBc.5202C>G (p.Asp1734Glu)
c.1197C>G (p.Asp399Glu)
14g.64772931G>TCA390041439SPTBc.5202C>A (p.Asp1734Glu)
c.1197C>A (p.Asp399Glu)
 gnomAD v4
14g.64772932T>ACA390041442SPTBc.5201A>T (p.Asp1734Val)
c.1196A>T (p.Asp399Val)
14g.64772932T>CCA390041445SPTBc.5201A>G (p.Asp1734Gly)
c.1196A>G (p.Asp399Gly)
 dbSNP
14g.64772932T>GCA390041447SPTBc.5201A>C (p.Asp1734Ala)
c.1196A>C (p.Asp399Ala)
14g.64772932T=CA2142804561SPTBc.5201A= (p.Asp1734=)
c.1196A= (p.Asp399=)
14g.64772933C>ACA390041450SPTBc.5200G>T (p.Asp1734Tyr)
c.1195G>T (p.Asp399Tyr)
 gnomAD v4
14g.64772933C>GCA390041452SPTBc.5200G>C (p.Asp1734His)
c.1195G>C (p.Asp399His)
14g.64772933C>TCA390041454SPTBc.5200G>A (p.Asp1734Asn)
c.1195G>A (p.Asp399Asn)
14g.64772935delCA2625265668SPTBc.5200del (p.Asp1734ThrfsTer17)
c.1195del (p.Asp399ThrfsTer17)
 gnomAD v4
14g.64772934C>ACA486968246SPTBc.5199G>T (p.Arg1733=)
c.1194G>T (p.Arg398=)
14g.64772934C=CA2142804564SPTBc.5199G= (p.Arg1733=)
c.1194G= (p.Arg398=)
14g.64772934C>GCA486968249SPTBc.5199G>C (p.Arg1733=)
c.1194G>C (p.Arg398=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.64772934C>TCA486968251SPTBc.5199G>A (p.Arg1733=)
c.1194G>A (p.Arg398=)
14g.64772935C>ACA390041457SPTBc.5198G>T (p.Arg1733Leu)
c.1193G>T (p.Arg398Leu)
14g.64772935C=CA2142804567SPTBc.5198G= (p.Arg1733=)
c.1193G= (p.Arg398=)
14g.64772935C>GCA390041458SPTBc.5198G>C (p.Arg1733Pro)
c.1193G>C (p.Arg398Pro)
14g.64772935C>TCA390041460SPTBc.5198G>A (p.Arg1733Gln)
c.1193G>A (p.Arg398Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.64772936G>ACA7230028SPTBc.5197C>T (p.Arg1733Trp)
c.1192C>T (p.Arg398Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
14g.64772936G>CCA390041463SPTBc.5197C>G (p.Arg1733Gly)
c.1192C>G (p.Arg398Gly)
14g.64772936G=CA2142804573SPTBc.5197C= (p.Arg1733=)
c.1192C= (p.Arg398=)
14g.64772936G>TCA486968253SPTBc.5197C>A (p.Arg1733=)
c.1192C>A (p.Arg398=)
 gnomAD v4
14g.64772937delCA2739277905SPTBc.5197del (p.Arg1733GlyfsTer18)
c.1192del (p.Arg398GlyfsTer18)
 ClinVar
14g.64772937G>ACA486968255SPTBc.5196C>T (p.Phe1732=)
c.1191C>T (p.Phe397=)
14g.64772937G>CCA390041467SPTBc.5196C>G (p.Phe1732Leu)
c.1191C>G (p.Phe397Leu)
14g.64772937G>TCA390041469SPTBc.5196C>A (p.Phe1732Leu)
c.1191C>A (p.Phe397Leu)
 gnomAD v4
14g.64772938A>CCA390041472SPTBc.5195T>G (p.Phe1732Cys)
c.1190T>G (p.Phe397Cys)
14g.64772938A>GCA390041474SPTBc.5195T>C (p.Phe1732Ser)
c.1190T>C (p.Phe397Ser)
14g.64772938A>TCA390041476SPTBc.5195T>A (p.Phe1732Tyr)
c.1190T>A (p.Phe397Tyr)
14g.64772939A>CCA390041478SPTBc.5194T>G (p.Phe1732Val)
c.1189T>G (p.Phe397Val)
14g.64772939A>GCA390041480SPTBc.5194T>C (p.Phe1732Leu)
c.1189T>C (p.Phe397Leu)
14g.64772939A>TCA390041482SPTBc.5194T>A (p.Phe1732Ile)
c.1189T>A (p.Phe397Ile)
14g.64772940C>ACA390041485SPTBc.5193G>T (p.Lys1731Asn)
c.1188G>T (p.Lys396Asn)
14g.64772940C>GCA390041487SPTBc.5193G>C (p.Lys1731Asn)
c.1188G>C (p.Lys396Asn)
14g.64772940C>TCA486968261SPTBc.5193G>A (p.Lys1731=)
c.1188G>A (p.Lys396=)
14g.64772941T>ACA390041489SPTBc.5192A>T (p.Lys1731Met)
c.1187A>T (p.Lys396Met)
14g.64772941T>CCA390041491SPTBc.5192A>G (p.Lys1731Arg)
c.1187A>G (p.Lys396Arg)
 gnomAD v4
14g.64772941T>GCA390041493SPTBc.5192A>C (p.Lys1731Thr)
c.1187A>C (p.Lys396Thr)
14g.64772942T>ACA390041496SPTBc.5191A>T (p.Lys1731Ter)
c.1186A>T (p.Lys396Ter)
14g.64772942T>CCA390041498SPTBc.5191A>G (p.Lys1731Glu)
c.1186A>G (p.Lys396Glu)
14g.64772942T>GCA390041494SPTBc.5191A>C (p.Lys1731Gln)
c.1186A>C (p.Lys396Gln)
14g.64772943G>ACA486968268SPTBc.5190C>T (p.Asp1730=)
c.1185C>T (p.Asp395=)
 gnomAD v4
14g.64772943G>CCA390041502SPTBc.5190C>G (p.Asp1730Glu)
c.1185C>G (p.Asp395Glu)
 dbSNP gnomAD v2 gnomAD v4
14g.64772943G=CA2142804576SPTBc.5190C= (p.Asp1730=)
c.1185C= (p.Asp395=)
14g.64772943G>TCA390041504SPTBc.5190C>A (p.Asp1730Glu)
c.1185C>A (p.Asp395Glu)
 gnomAD v4
14g.64772944T>ACA390041506SPTBc.5189A>T (p.Asp1730Val)
c.1184A>T (p.Asp395Val)
14g.64772944T>CCA390041509SPTBc.5189A>G (p.Asp1730Gly)
c.1184A>G (p.Asp395Gly)
 gnomAD v4
14g.64772944T>GCA390041511SPTBc.5189A>C (p.Asp1730Ala)
c.1184A>C (p.Asp395Ala)
14g.64772945C>ACA7230029SPTBc.5188G>T (p.Asp1730Tyr)
c.1183G>T (p.Asp395Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.64772945C=CA2142804578SPTBc.5188G= (p.Asp1730=)
c.1183G= (p.Asp395=)
14g.64772945C>GCA390041515SPTBc.5188G>C (p.Asp1730His)
c.1183G>C (p.Asp395His)
14g.64772945C>TCA390041517SPTBc.5188G>A (p.Asp1730Asn)
c.1183G>A (p.Asp395Asn)
 dbSNP gnomAD v2 gnomAD v4
14g.64772946C>ACA486968273SPTBc.5187G>T (p.Arg1729=)
c.1182G>T (p.Arg394=)
 gnomAD v4
14g.64772946C>GCA486968274SPTBc.5187G>C (p.Arg1729=)
c.1182G>C (p.Arg394=)
14g.64772946C>TCA486968276SPTBc.5187G>A (p.Arg1729=)
c.1182G>A (p.Arg394=)
14g.64772947C>ACA7230030SPTBc.5186G>T (p.Arg1729Leu)
c.1181G>T (p.Arg394Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
14g.64772947C=CA2142804582SPTBc.5186G= (p.Arg1729=)
c.1181G= (p.Arg394=)
14g.64772947C>GCA390041521SPTBc.5186G>C (p.Arg1729Pro)
c.1181G>C (p.Arg394Pro)
14g.64772947C>TCA262689561SPTBc.5186G>A (p.Arg1729Gln)
c.1181G>A (p.Arg394Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.64772948G>ACA7230031SPTBc.5185C>T (p.Arg1729Trp)
c.1180C>T (p.Arg394Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.64772948G>CCA262689596SPTBc.5185C>G (p.Arg1729Gly)
c.1180C>G (p.Arg394Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.64772948G=CA2142804590SPTBc.5185C= (p.Arg1729=)
c.1180C= (p.Arg394=)
14g.64772948G>TCA486968279SPTBc.5185C>A (p.Arg1729=)
c.1180C>A (p.Arg394=)
 gnomAD v4
14g.64772949C>ACA486968280SPTBc.5184G>T (p.Leu1728=)
c.1179G>T (p.Leu393=)
 gnomAD v4
14g.64772949C=CA2142804599SPTBc.5184G= (p.Leu1728=)
c.1179G= (p.Leu393=)
14g.64772949C>GCA486968282SPTBc.5184G>C (p.Leu1728=)
c.1179G>C (p.Leu393=)
14g.64772949C>TCA486968281SPTBc.5184G>A (p.Leu1728=)
c.1179G>A (p.Leu393=)
 dbSNP gnomAD v4
14g.64772950A>CCA390041533SPTBc.5183T>G (p.Leu1728Arg)
c.1178T>G (p.Leu393Arg)
14g.64772950A>GCA390041530SPTBc.5183T>C (p.Leu1728Pro)
c.1178T>C (p.Leu393Pro)
14g.64772950A>TCA390041528SPTBc.5183T>A (p.Leu1728Gln)
c.1178T>A (p.Leu393Gln)
14g.64772951G>ACA486968285SPTBc.5182C>T (p.Leu1728=)
c.1177C>T (p.Leu393=)
14g.64772951G>CCA390041535SPTBc.5182C>G (p.Leu1728Val)
c.1177C>G (p.Leu393Val)
 gnomAD v4
14g.64772951G>TCA390041537SPTBc.5182C>A (p.Leu1728Met)
c.1177C>A (p.Leu393Met)
 gnomAD v4
14g.64772952A=CA2142804603SPTBc.5181T= (p.Leu1727=)
c.1176T= (p.Leu392=)
14g.64772952A>CCA486968287SPTBc.5181T>G (p.Leu1727=)
c.1176T>G (p.Leu392=)
14g.64772952A>GCA10640597SPTBc.5181T>C (p.Leu1727=)
c.1176T>C (p.Leu392=)
 ClinVar dbSNP gnomAD v4
14g.64772952A>TCA486968289SPTBc.5181T>A (p.Leu1727=)
c.1176T>A (p.Leu392=)
14g.64772953A>CCA390041540SPTBc.5180T>G (p.Leu1727Arg)
c.1175T>G (p.Leu392Arg)
14g.64772953A>GCA390041542SPTBc.5180T>C (p.Leu1727Pro)
c.1175T>C (p.Leu392Pro)
14g.64772953A>TCA390041544SPTBc.5180T>A (p.Leu1727His)
c.1175T>A (p.Leu392His)
14g.64772954G>ACA7230032SPTBc.5179C>T (p.Leu1727Phe)
c.1174C>T (p.Leu392Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.64772954G>CCA390041548SPTBc.5179C>G (p.Leu1727Val)
c.1174C>G (p.Leu392Val)
14g.64772954G=CA2142804608SPTBc.5179C= (p.Leu1727=)
c.1174C= (p.Leu392=)
14g.64772954G>TCA390041550SPTBc.5179C>A (p.Leu1727Ile)
c.1174C>A (p.Leu392Ile)
 gnomAD v4
14g.64772955_64772989dupCA2625265781SPTBc.5179-34_5179dup
c.1174-34_1174dup
 gnomAD v4
14g.64772955C>ACA390041551SPTBc.5179-1G>T (n.5179-1G>T)
c.1174-1G>T (n.1174-1G>T)
 gnomAD v4
14g.64772955C=CA2142804612SPTBc.5179-1G= (n.5179-1G=)
c.1174-1G= (n.1174-1G=)
14g.64772955C>GCA390041552SPTBc.5179-1G>C (n.5179-1G>C)
c.1174-1G>C (n.1174-1G>C)
14g.64772955C>TCA390041554SPTBc.5179-1G>A (n.5179-1G>A)
c.1174-1G>A (n.1174-1G>A)
 dbSNP gnomAD v2
14g.64772956T>ACA390041561SPTBc.5179-2A>T (n.5179-2A>T)
c.1174-2A>T (n.1174-2A>T)
14g.64772956T>CCA390041559SPTBc.5179-2A>G (n.5179-2A>G)
c.1174-2A>G (n.1174-2A>G)
 gnomAD v4
14g.64772956T>GCA390041557SPTBc.5179-2A>C (n.5179-2A>C)
c.1174-2A>C (n.1174-2A>C)
14g.64772957A>TCA2625265801SPTBc.5179-3T>A (n.5179-3T>A)
c.1174-3T>A (n.1174-3T>A)
 gnomAD v4
14g.64772958G>ACA707747636SPTBc.5179-4C>T (n.5179-4C>T)
c.1174-4C>T (n.1174-4C>T)
 dbSNP
14g.64772958G=CA2142804615SPTBc.5179-4C= (n.5179-4C=)
c.1174-4C= (n.1174-4C=)
14g.64772958G>TCA2625265803SPTBc.5179-4C>A (n.5179-4C>A)
c.1174-4C>A (n.1174-4C>A)
 gnomAD v4
14g.64772959G>ACA707747638SPTBc.5179-5C>T (n.5179-5C>T)
c.1174-5C>T (n.1174-5C>T)
 dbSNP gnomAD v3 gnomAD v4
14g.64772959G=CA2142804618SPTBc.5179-5C= (n.5179-5C=)
c.1174-5C= (n.1174-5C=)
14g.64772959G>TCA2625265807SPTBc.5179-5C>A (n.5179-5C>A)
c.1174-5C>A (n.1174-5C>A)
 gnomAD v4
14g.64772960C>ACA7230033SPTBc.5179-6G>T (n.5179-6G>T)
c.1174-6G>T (n.1174-6G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.64772960C=CA2142804622SPTBc.5179-6G= (n.5179-6G=)
c.1174-6G= (n.1174-6G=)
14g.64772960C>TCA2625265811SPTBc.5179-6G>A (n.5179-6G>A)
c.1174-6G>A (n.1174-6G>A)
 gnomAD v4
14g.64772961A=CA2142804626SPTBc.5179-7T= (n.5179-7T=)
c.1174-7T= (n.1174-7T=)
14g.64772961A>GCA7230034SPTBc.5179-7T>C (n.5179-7T>C)
c.1174-7T>C (n.1174-7T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.64772962T>ACA2801900516SPTBc.5179-8A>T (n.5179-8A>T)
c.1174-8A>T (n.1174-8A>T)
14g.64772962T>CCA2625265813SPTBc.5179-8A>G (n.5179-8A>G)
c.1174-8A>G (n.1174-8A>G)
 gnomAD v4
14g.64772962_64772963delinsTGCA2142804628SPTBc.5179-9_5179-8delinsCA (n.5179-9_5179-8delinsCA)
c.1174-9_1174-8delinsCA (n.1174-9_1174-8delinsCA)
14g.64772963G>ACA614736329SPTBc.5179-9C>T (n.5179-9C>T)
c.1174-9C>T (n.1174-9C>T)
 dbSNP gnomAD v2
14g.64772963G>CCA2142804634SPTBc.5179-9C>G (n.5179-9C>G)
c.1174-9C>G (n.1174-9C>G)
 dbSNP
14g.64772963G=CA2142804631SPTBc.5179-9C= (n.5179-9C=)
c.1174-9C= (n.1174-9C=)
14g.64772963G>TCA2625265816SPTBc.5179-9C>A (n.5179-9C>A)
c.1174-9C>A (n.1174-9C>A)
 gnomAD v4
14g.64772966delCA614736328SPTBc.5179-9del (n.5179-9del)
c.1174-9del (n.1174-9del)
 dbSNP gnomAD v2 gnomAD v4
14g.64772964G>TCA2625265818SPTBc.5179-10C>A (n.5179-10C>A)
c.1174-10C>A (n.1174-10C>A)
 gnomAD v4
14g.64772965G>ACA7230035SPTBc.5179-11C>T (n.5179-11C>T)
c.1174-11C>T (n.1174-11C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.64772965G=CA2142804639SPTBc.5179-11C= (n.5179-11C=)
c.1174-11C= (n.1174-11C=)
14g.64772966G>ACA614736330SPTBc.5179-12C>T (n.5179-12C>T)
c.1174-12C>T (n.1174-12C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.64772966G=CA2142804643SPTBc.5179-12C= (n.5179-12C=)
c.1174-12C= (n.1174-12C=)
14g.64772966G>TCA2625265822SPTBc.5179-12C>A (n.5179-12C>A)
c.1174-12C>A (n.1174-12C>A)
 gnomAD v4
14g.64772967C>ACA2625265825SPTBc.5179-13G>T (n.5179-13G>T)
c.1174-13G>T (n.1174-13G>T)
 gnomAD v4
14g.64772967C>TCA2625265827SPTBc.5179-13G>A (n.5179-13G>A)
c.1174-13G>A (n.1174-13G>A)
 gnomAD v4
14g.64772968A=CA2142804646SPTBc.5179-14T= (n.5179-14T=)
c.1174-14T= (n.1174-14T=)
14g.64772968A>GCA614736331SPTBc.5179-14T>C (n.5179-14T>C)
c.1174-14T>C (n.1174-14T>C)
 dbSNP gnomAD v2 gnomAD v4
14g.64772969G>TCA2625265833SPTBc.5179-15C>A (n.5179-15C>A)
c.1174-15C>A (n.1174-15C>A)
 gnomAD v4
14g.64772971C>ACA2625265836SPTBc.5179-17G>T (n.5179-17G>T)
c.1174-17G>T (n.1174-17G>T)
 gnomAD v4
14g.64772971C>TCA2625265838SPTBc.5179-17G>A (n.5179-17G>A)
c.1174-17G>A (n.1174-17G>A)
 gnomAD v4
14g.64772973G>ACA2625265842SPTBc.5179-19C>T (n.5179-19C>T)
c.1174-19C>T (n.1174-19C>T)
 gnomAD v4
14g.64772973G>CCA2142804650SPTBc.5179-19C>G (n.5179-19C>G)
c.1174-19C>G (n.1174-19C>G)
 dbSNP gnomAD v4
14g.64772973G=CA2142804649SPTBc.5179-19C= (n.5179-19C=)
c.1174-19C= (n.1174-19C=)
14g.64772973G>TCA2625265844SPTBc.5179-19C>A (n.5179-19C>A)
c.1174-19C>A (n.1174-19C>A)
 gnomAD v4
14g.64772975A>TCA2625265847SPTBc.5179-21T>A (n.5179-21T>A)
c.1174-21T>A (n.1174-21T>A)
 gnomAD v4
14g.64772976A=CA2142804652SPTBc.5179-22T= (n.5179-22T=)
c.1174-22T= (n.1174-22T=)
14g.64772976A>GCA7230036SPTBc.5179-22T>C (n.5179-22T>C)
c.1174-22T>C (n.1174-22T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.64772978G>ACA614736332SPTBc.5179-24C>T (n.5179-24C>T)
c.1174-24C>T (n.1174-24C>T)
 dbSNP gnomAD v2 gnomAD v4
14g.64772978G>CCA2575565651SPTBc.5179-24C>G (n.5179-24C>G)
c.1174-24C>G (n.1174-24C>G)
 gnomAD v4
14g.64772978G=CA2142804657SPTBc.5179-24C= (n.5179-24C=)
c.1174-24C= (n.1174-24C=)
14g.64772979T>ACA614736333SPTBc.5179-25A>T (n.5179-25A>T)
c.1174-25A>T (n.1174-25A>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.64772979T>CCA2536573114SPTBc.5179-25A>G (n.5179-25A>G)
c.1174-25A>G (n.1174-25A>G)
14g.64772979T=CA2142804661SPTBc.5179-25A= (n.5179-25A=)
c.1174-25A= (n.1174-25A=)

Number of alleles fetched