Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.18078374_18078393delinsTGCAGCCCCCCTCAGGGGGCTCGGGGCA2740094766PEX26c.-3_17delinsTGCAGCCCCCCTCAGGGGGCTCGGGG
ClinVar
22g.18078388T>ACA410264014PEX26c.12T>A (p.Asp4Glu)
22g.18078388T>CCA513184630PEX26c.12T>C (p.Asp4=)
ClinVar dbSNP
22g.18078388T>GCA410264018PEX26c.12T>G (p.Asp4Glu)
22g.18078389T>ACA410264022PEX26c.13T>A (p.Ser5Thr)
22g.18078389T>CCA410264024PEX26c.13T>C (p.Ser5Pro)
dbSNP
22g.18078389T>GCA410264027PEX26c.13T>G (p.Ser5Ala)
22g.18078389T=CA2395402717PEX26c.13T= (p.Ser5=)
22g.18078390C>ACA410264031PEX26c.14C>A (p.Ser5Tyr)
gnomAD v4
22g.18078390C=CA2395402718PEX26c.14C= (p.Ser5=)
22g.18078390C>GCA410264035PEX26c.14C>G (p.Ser5Cys)
22g.18078390C>TCA410264038PEX26c.14C>T (p.Ser5Phe)
dbSNP gnomAD v2 gnomAD v4
22g.18078391T>ACA513184632PEX26c.15T>A (p.Ser5=)
22g.18078391T>CCA513184633PEX26c.15T>C (p.Ser5=)
ClinVar dbSNP gnomAD v4
22g.18078391T>GCA513184634PEX26c.15T>G (p.Ser5=)
22g.18078392T>ACA410264042PEX26c.16T>A (p.Ser6Thr)
22g.18078392T>CCA410264044PEX26c.16T>C (p.Ser6Pro)
22g.18078392T>GCA410264048PEX26c.16T>G (p.Ser6Ala)
22g.18078393C>ACA321284208PEX26c.17C>A (p.Ser6Ter)
dbSNP gnomAD v4
22g.18078393C=CA2395402719PEX26c.17C= (p.Ser6=)
22g.18078393C>GCA410264053PEX26c.17C>G (p.Ser6Trp)
gnomAD v4
22g.18078393C>TCA410264055PEX26c.17C>T (p.Ser6Leu)
ClinVar dbSNP gnomAD v2 gnomAD v4
22g.18078394G>ACA10093191PEX26c.18G>A (p.Ser6=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
22g.18078394G>CCA513184636PEX26c.18G>C (p.Ser6=)
gnomAD v4
22g.18078394G=CA2395402720PEX26c.18G= (p.Ser6=)
22g.18078394G>TCA513184637PEX26c.18G>T (p.Ser6=)
dbSNP gnomAD v4
22g.18078395A>CCA410264067PEX26c.19A>C (p.Thr7Pro)
22g.18078395A>GCA410264064PEX26c.19A>G (p.Thr7Ala)
22g.18078395A>TCA410264070PEX26c.19A>T (p.Thr7Ser)
22g.18078396C>ACA410264074PEX26c.20C>A (p.Thr7Asn)
gnomAD v4
22g.18078396C=CA2395402721PEX26c.20C= (p.Thr7=)
22g.18078396C>GCA410264077PEX26c.20C>G (p.Thr7Ser)
22g.18078396C>TCA410264080PEX26c.20C>T (p.Thr7Ile)
ClinVar dbSNP gnomAD v2 gnomAD v4
22g.18078397C>ACA513184639PEX26c.21C>A (p.Thr7=)
gnomAD v4
22g.18078397C>GCA513184640PEX26c.21C>G (p.Thr7=)
22g.18078397C>TCA513184641PEX26c.21C>T (p.Thr7=)
22g.18078398T>ACA321284215PEX26c.22T>A (p.Ser8Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.18078398T>CCA410264086PEX26c.22T>C (p.Ser8Pro)
gnomAD v4
22g.18078398T>GCA410264089PEX26c.22T>G (p.Ser8Ala)
22g.18078398T=CA2395402722PEX26c.22T= (p.Ser8=)
22g.18078399C>ACA410264093PEX26c.23C>A (p.Ser8Tyr)
gnomAD v4
22g.18078399C=CA2395402723PEX26c.23C= (p.Ser8=)
22g.18078399C>GCA410264097PEX26c.23C>G (p.Ser8Cys)
gnomAD v4
22g.18078399C>TCA10093192PEX26c.23C>T (p.Ser8Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.18078403_18078434dupCA638502283PEX26c.27_58dup (p.Arg20GlnfsTer?)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.18078400T>ACA513184645PEX26c.24T>A (p.Ser8=)
22g.18078400T>CCA513184646PEX26c.24T>C (p.Ser8=)
gnomAD v4
22g.18078400T>GCA513184647PEX26c.24T>G (p.Ser8=)
dbSNP
22g.18078400T=CA2395402724PEX26c.24T= (p.Ser8=)
22g.18078401G>ACA410264100PEX26c.25G>A (p.Ala9Thr)
gnomAD v4
22g.18078401G>CCA410264102PEX26c.25G>C (p.Ala9Pro)
dbSNP gnomAD v3 gnomAD v4
22g.18078401G=CA2395402725PEX26c.25G= (p.Ala9=)
22g.18078401G>TCA410264104PEX26c.25G>T (p.Ala9Ser)
gnomAD v4
22g.18078402C>ACA410264109PEX26c.26C>A (p.Ala9Glu)
gnomAD v4
22g.18078402C>GCA410264106PEX26c.26C>G (p.Ala9Gly)
22g.18078402C>TCA410264108PEX26c.26C>T (p.Ala9Val)
22g.18078403A>CCA513184651PEX26c.27A>C (p.Ala9=)
22g.18078403A>GCA513184652PEX26c.27A>G (p.Ala9=)
gnomAD v4
22g.18078403A>TCA513184653PEX26c.27A>T (p.Ala9=)
22g.18078403_18078404delinsAGCA2395402726PEX26c.27_28delinsAG (p.Ala9=)
22g.18078404delCA2395402727PEX26c.28del (p.Ala10ProfsTer?)
ClinVar dbSNP
22g.18078404G>ACA410264111PEX26c.28G>A (p.Ala10Thr)
gnomAD v4
22g.18078404G>CCA410264113PEX26c.28G>C (p.Ala10Pro)
22g.18078404G>TCA410264115PEX26c.28G>T (p.Ala10Ser)
gnomAD v4
22g.18078404_18078405delinsGCCA2395402728PEX26c.28_29delinsGC (p.Ala10=)
22g.18078405C>ACA410264118PEX26c.29C>A (p.Ala10Asp)
gnomAD v4
22g.18078405C=CA2395402729PEX26c.29C= (p.Ala10=)
22g.18078405C>GCA410264120PEX26c.29C>G (p.Ala10Gly)
gnomAD v4
22g.18078405C>TCA10093193PEX26c.29C>T (p.Ala10Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.18078410dupCA115371PEX26c.34dup (p.Leu12ProfsTer?)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.[18078410dup;18085113_18085259del]CA2742038402PEX26c.[34dup;669_814+1del]
c.[34dup;667+1381_667+1527del] (p.Leu12ProfsTer?)
c.[34dup;371+5099_371+5245del] (p.Leu12ProfsTer?)
22g.18078410delCA638502284PEX26c.34del (p.Leu12SerfsTer?)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.18078406C>ACA513184656PEX26c.30C>A (p.Ala10=)
ClinVar gnomAD v4
22g.18078406C=CA2395402730PEX26c.30C= (p.Ala10=)
22g.18078406C>GCA513184657PEX26c.30C>G (p.Ala10=)
22g.18078406C>TCA10093194PEX26c.30C>T (p.Ala10=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.18078407C>ACA410264124PEX26c.31C>A (p.Pro11Thr)
dbSNP gnomAD v2 gnomAD v4
22g.18078407C=CA2395402731PEX26c.31C= (p.Pro11=)
22g.18078407C>GCA410264126PEX26c.31C>G (p.Pro11Ala)
22g.18078407C>TCA10093195PEX26c.31C>T (p.Pro11Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.18078408C>ACA10093197PEX26c.32C>A (p.Pro11His)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.18078408C=CA2395402732PEX26c.32C= (p.Pro11=)
22g.18078408C>GCA410264131PEX26c.32C>G (p.Pro11Arg)
22g.18078408C>TCA10093196PEX26c.32C>T (p.Pro11Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.18078409C>ACA513184660PEX26c.33C>A (p.Pro11=)
gnomAD v4
22g.18078409C=CA2395402733PEX26c.33C= (p.Pro11=)
22g.18078409C>GCA10093199PEX26c.33C>G (p.Pro11=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.18078409C>TCA10093198PEX26c.33C>T (p.Pro11=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.18078410C>ACA10093200PEX26c.34C>A (p.Leu12Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.18078410C=CA2395402734PEX26c.34C= (p.Leu12=)
22g.18078410C>GCA321284262PEX26c.34C>G (p.Leu12Val)
dbSNP gnomAD v2 gnomAD v4
22g.18078410C>TCA10093201PEX26c.34C>T (p.Leu12Phe)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.18078411delCA2655183572PEX26c.35del (p.Leu12ProfsTer?)
gnomAD v4
22g.18078411T>ACA410264138PEX26c.35T>A (p.Leu12His)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.18078411T>CCA410264140PEX26c.35T>C (p.Leu12Pro)
ClinVar gnomAD v4
22g.18078411T>GCA410264142PEX26c.35T>G (p.Leu12Arg)
22g.18078411T=CA2395402735PEX26c.35T= (p.Leu12=)
22g.18078412C>ACA513184672PEX26c.36C>A (p.Leu12=)
ClinVar gnomAD v4
22g.18078412C=CA2395402737PEX26c.36C= (p.Leu12=)
22g.18078412C>GCA513184674PEX26c.36C>G (p.Leu12=)
ClinVar gnomAD v4
22g.18078412C>TCA10093202PEX26c.36C>T (p.Leu12=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.18078412_18078414delinsCAGCA2395402736PEX26c.36_38delinsCAG (p.Leu12=)
22g.18078413A=CA2395402738PEX26c.37A= (p.Arg13=)
22g.18078413A>CCA513184677PEX26c.37A>C (p.Arg13=)
gnomAD v4
22g.18078413A>GCA321284289PEX26c.37A>G (p.Arg13Gly)
dbSNP gnomAD v4
22g.18078413A>TCA410264145PEX26c.37A>T (p.Arg13Trp)
22g.18078413_18078414delCA321284285PEX26c.37_38del (p.Arg13GlyfsTer?)
ClinVar dbSNP gnomAD v3 gnomAD v4
22g.18078414G>ACA410264151PEX26c.38G>A (p.Arg13Lys)
gnomAD v4
22g.18078414G>CCA410264150PEX26c.38G>C (p.Arg13Thr)
dbSNP gnomAD v4
22g.18078414G=CA2395402739PEX26c.38G= (p.Arg13=)
22g.18078414G>TCA410264148PEX26c.38G>T (p.Arg13Met)
ClinVar dbSNP gnomAD v2 gnomAD v4
22g.18078418dupCA2577641354PEX26c.42dup (p.Leu15AlafsTer?)
gnomAD v4
22g.18078418delCA2655183586PEX26c.42del (p.Leu15SerfsTer?)
gnomAD v4
22g.18078415G>ACA10093203PEX26c.39G>A (p.Arg13=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.18078415G>CCA410264153PEX26c.39G>C (p.Arg13Ser)
22g.18078415G=CA2395402740PEX26c.39G= (p.Arg13=)
22g.18078415G>TCA410264154PEX26c.39G>T (p.Arg13Ser)
22g.18078416G>ACA410264155PEX26c.40G>A (p.Gly14Arg)
ClinVar dbSNP gnomAD v4
22g.18078416G>CCA410264156PEX26c.40G>C (p.Gly14Arg)
22g.18078416G=CA2395402741PEX26c.40G= (p.Gly14=)
22g.18078416G>TCA410264157PEX26c.40G>T (p.Gly14Trp)
gnomAD v4
22g.18078417G>ACA410264158PEX26c.41G>A (p.Gly14Glu)
22g.18078417G>CCA410264159PEX26c.41G>C (p.Gly14Ala)
22g.18078417G>TCA410264161PEX26c.41G>T (p.Gly14Val)
gnomAD v4
22g.18078418G>ACA10093204PEX26c.42G>A (p.Gly14=)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.18078418G>CCA513184698PEX26c.42G>C (p.Gly14=)
22g.18078418G=CA2395402742PEX26c.42G= (p.Gly14=)
22g.18078418G>TCA513184700PEX26c.42G>T (p.Gly14=)
gnomAD v4
22g.18078419C>ACA410264164PEX26c.43C>A (p.Leu15Ile)
gnomAD v4
22g.18078419C=CA2395402743PEX26c.43C= (p.Leu15=)
22g.18078419C>GCA321284309PEX26c.43C>G (p.Leu15Val)
dbSNP gnomAD v3 gnomAD v4
22g.18078419C>TCA410264167PEX26c.43C>T (p.Leu15Phe)
ClinVar dbSNP gnomAD v2 gnomAD v4
22g.18078420T>ACA410264169PEX26c.44T>A (p.Leu15His)
22g.18078420T>CCA410264171PEX26c.44T>C (p.Leu15Pro)
22g.18078420T>GCA410264168PEX26c.44T>G (p.Leu15Arg)
22g.18078421C>ACA513184709PEX26c.45C>A (p.Leu15=)
gnomAD v4
22g.18078421C=CA2395402744PEX26c.45C= (p.Leu15=)
22g.18078421C>GCA513184713PEX26c.45C>G (p.Leu15=)
22g.18078421C>TCA513184711PEX26c.45C>T (p.Leu15=)
ClinVar dbSNP gnomAD v2 gnomAD v4
22g.18078421_18078434delCA2655183646PEX26c.45_58del (p.Gly16GlnfsTer?)
gnomAD v4
22g.18078422G>ACA410264176PEX26c.46G>A (p.Gly16Arg)
gnomAD v4
22g.18078422G>CCA410264173PEX26c.46G>C (p.Gly16Arg)
dbSNP gnomAD v3 gnomAD v4
22g.18078422G=CA2395402745PEX26c.46G= (p.Gly16=)
22g.18078422G>TCA410264175PEX26c.46G>T (p.Gly16Trp)
gnomAD v4
22g.18078426delCA2655183655PEX26c.50del (p.Gly17AspfsTer?)
gnomAD v4
22g.18078423G>ACA410264179PEX26c.47G>A (p.Gly16Glu)
ClinVar dbSNP gnomAD v2 gnomAD v4
22g.18078423G>CCA410264180PEX26c.47G>C (p.Gly16Ala)
22g.18078423G=CA2395402746PEX26c.47G= (p.Gly16=)
22g.18078423G>TCA410264181PEX26c.47G>T (p.Gly16Val)
gnomAD v4
22g.18078424G>ACA513184720PEX26c.48G>A (p.Gly16=)
ClinVar gnomAD v4
22g.18078424G>CCA513184722PEX26c.48G>C (p.Gly16=)
22g.18078424G=CA2395402747PEX26c.48G= (p.Gly16=)
22g.18078424G>TCA10093205PEX26c.48G>T (p.Gly16=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.18078425G>ACA10093206PEX26c.49G>A (p.Gly17Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.18078425G>CCA410264187PEX26c.49G>C (p.Gly17Arg)
22g.18078425G=CA2395402748PEX26c.49G= (p.Gly17=)
22g.18078425G>TCA410264190PEX26c.49G>T (p.Gly17Ter)
22g.18078426G>ACA10093207PEX26c.50G>A (p.Gly17Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.18078426G>CCA410264194PEX26c.50G>C (p.Gly17Ala)
22g.18078426G=CA2395402749PEX26c.50G= (p.Gly17=)
22g.18078426G>TCA410264198PEX26c.50G>T (p.Gly17Val)
gnomAD v4
22g.18078427A=CA2395402750PEX26c.51A= (p.Gly17=)
22g.18078427A>CCA321284315PEX26c.51A>C (p.Gly17=)
dbSNP gnomAD v4
22g.18078427A>GCA10093208PEX26c.51A>G (p.Gly17=)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.18078427A>TCA513184735PEX26c.51A>T (p.Gly17=)
22g.18078428C>ACA410264212PEX26c.52C>A (p.Pro18Thr)
ClinVar dbSNP gnomAD v4
22g.18078428C=CA2395402751PEX26c.52C= (p.Pro18=)
22g.18078428C>GCA410264210PEX26c.52C>G (p.Pro18Ala)
dbSNP gnomAD v2 gnomAD v4
22g.18078428C>TCA321284316PEX26c.52C>T (p.Pro18Ser)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.18078431delCA2655183683PEX26c.55del (p.Leu19CysfsTer?)
gnomAD v4
22g.18078429C>ACA410264214PEX26c.53C>A (p.Pro18His)
gnomAD v4
22g.18078429C=CA2395402752PEX26c.53C= (p.Pro18=)
22g.18078429C>GCA410264217PEX26c.53C>G (p.Pro18Arg)
22g.18078429C>TCA410264220PEX26c.53C>T (p.Pro18Leu)
ClinVar dbSNP gnomAD v2 gnomAD v4
22g.18078430C>ACA513184741PEX26c.54C>A (p.Pro18=)
gnomAD v4
22g.18078430C=CA2395402753PEX26c.54C= (p.Pro18=)
22g.18078430C>GCA513184743PEX26c.54C>G (p.Pro18=)
22g.18078430C>TCA10093209PEX26c.54C>T (p.Pro18=)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.18078431C>ACA410264226PEX26c.55C>A (p.Leu19Met)
gnomAD v4
22g.18078431C=CA2395402754PEX26c.55C= (p.Leu19=)
22g.18078431C>GCA410264230PEX26c.55C>G (p.Leu19Val)
22g.18078431C>TCA10093210PEX26c.55C>T (p.Leu19=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.18078432T>ACA410264234PEX26c.56T>A (p.Leu19Gln)
gnomAD v4
22g.18078432T>CCA410264237PEX26c.56T>C (p.Leu19Pro)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.18078432T>GCA410264239PEX26c.56T>G (p.Leu19Arg)
22g.18078432T=CA2395402755PEX26c.56T= (p.Leu19=)
22g.18078433G>ACA321284317PEX26c.57G>A (p.Leu19=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.18078433G>CCA513184754PEX26c.57G>C (p.Leu19=)
gnomAD v4
22g.18078433G=CA2395402756PEX26c.57G= (p.Leu19=)
22g.18078433G>TCA513184756PEX26c.57G>T (p.Leu19=)
gnomAD v4
22g.18078433_18078434insAGGGGCA2655183738PEX26c.57_58insAGGGG (p.Ser21GlyfsTer?)
gnomAD v4
22g.18078434C>ACA410264242PEX26c.58C>A (p.Arg20Ser)
gnomAD v4
22g.18078434C=CA2395402757PEX26c.58C= (p.Arg20=)
22g.18078434C>GCA410264245PEX26c.58C>G (p.Arg20Gly)
ClinVar dbSNP gnomAD v4
22g.18078434C>TCA410264248PEX26c.58C>T (p.Arg20Cys)
dbSNP gnomAD v2 gnomAD v4
22g.18078435G>ACA410264256PEX26c.59G>A (p.Arg20His)
ClinVar gnomAD v4
22g.18078435G>CCA410264258PEX26c.59G>C (p.Arg20Pro)
22g.18078435G>TCA410264251PEX26c.59G>T (p.Arg20Leu)
gnomAD v4
22g.18078436C>ACA513184766PEX26c.60C>A (p.Arg20=)
gnomAD v4
22g.18078436C=CA2395402758PEX26c.60C= (p.Arg20=)
22g.18078436C>GCA513184768PEX26c.60C>G (p.Arg20=)
22g.18078436C>TCA513184769PEX26c.60C>T (p.Arg20=)
dbSNP gnomAD v2 gnomAD v4
22g.18078437A>CCA410264260PEX26c.61A>C (p.Ser21Arg)
22g.18078437A>GCA410264263PEX26c.61A>G (p.Ser21Gly)
gnomAD v4
22g.18078437A>TCA410264265PEX26c.61A>T (p.Ser21Cys)
gnomAD v4
22g.18078438G>ACA410264270PEX26c.62G>A (p.Ser21Asn)
gnomAD v4
22g.18078438G>CCA410264272PEX26c.62G>C (p.Ser21Thr)
22g.18078438G>TCA410264275PEX26c.62G>T (p.Ser21Ile)
gnomAD v4
22g.18078439C>ACA410264280PEX26c.63C>A (p.Ser21Arg)
gnomAD v4
22g.18078439C=CA2395402759PEX26c.63C= (p.Ser21=)
22g.18078439C>GCA410264282PEX26c.63C>G (p.Ser21Arg)
22g.18078439C>TCA513184779PEX26c.63C>T (p.Ser21=)
ClinVar dbSNP gnomAD v2 gnomAD v4
22g.18078440A>CCA410264289PEX26c.64A>C (p.Ser22Arg)
22g.18078440A>GCA410264292PEX26c.64A>G (p.Ser22Gly)
22g.18078440A>TCA410264295PEX26c.64A>T (p.Ser22Cys)
22g.18078441G>ACA10093211PEX26c.65G>A (p.Ser22Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.18078441G>CCA410264302PEX26c.65G>C (p.Ser22Thr)
gnomAD v4
22g.18078441G=CA2395402760PEX26c.65G= (p.Ser22=)
22g.18078441G>TCA410264298PEX26c.65G>T (p.Ser22Ile)
gnomAD v4
22g.18078442C>ACA410264306PEX26c.66C>A (p.Ser22Arg)
gnomAD v4
22g.18078442C=CA2395402761PEX26c.66C= (p.Ser22=)
22g.18078442C>GCA10093212PEX26c.66C>G (p.Ser22Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.18078442C>TCA513184788PEX26c.66C>T (p.Ser22=)
ClinVar dbSNP gnomAD v4
22g.18078443G>ACA410264312PEX26c.67G>A (p.Glu23Lys)
dbSNP gnomAD v2 gnomAD v4
22g.18078443G>CCA410264314PEX26c.67G>C (p.Glu23Gln)
gnomAD v4
22g.18078443G=CA2395402762PEX26c.67G= (p.Glu23=)
22g.18078443G>TCA410264317PEX26c.67G>T (p.Glu23Ter)
gnomAD v4
22g.18078444A>CCA410264322PEX26c.68A>C (p.Glu23Ala)
22g.18078444A>GCA410264325PEX26c.68A>G (p.Glu23Gly)
gnomAD v4
22g.18078444A>TCA410264329PEX26c.68A>T (p.Glu23Val)
22g.18078445G>ACA513184800PEX26c.69G>A (p.Glu23=)
ClinVar
22g.18078445G>CCA410264336PEX26c.69G>C (p.Glu23Asp)
22g.18078445G=CA2395402763PEX26c.69G= (p.Glu23=)
22g.18078445G>TCA410264338PEX26c.69G>T (p.Glu23Asp)
dbSNP gnomAD v4
22g.18078446C>ACA410264342PEX26c.70C>A (p.Pro24Thr)
gnomAD v4
22g.18078446C=CA2395402764PEX26c.70C= (p.Pro24=)
22g.18078446C>GCA410264344PEX26c.70C>G (p.Pro24Ala)
22g.18078446C>TCA410264347PEX26c.70C>T (p.Pro24Ser)
dbSNP gnomAD v4
22g.18078447delCA2695200060PEX26c.71del (p.Pro24ArgfsTer?)
ClinVar
22g.18078447C>ACA410264352PEX26c.71C>A (p.Pro24Gln)
gnomAD v4
22g.18078447C=CA2395402765PEX26c.71C= (p.Pro24=)
22g.18078447C>GCA10093213PEX26c.71C>G (p.Pro24Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.18078447C>TCA10093214PEX26c.71C>T (p.Pro24Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.18078449_18078455delCA2695230397PEX26c.73_79del (p.Val25ArgfsTer?)
ClinVar
22g.18078448G>ACA513184813PEX26c.72G>A (p.Pro24=)
ClinVar gnomAD v4
22g.18078448G>CCA513184810PEX26c.72G>C (p.Pro24=)
22g.18078448G=CA2395402766PEX26c.72G= (p.Pro24=)
22g.18078448G>TCA513184812PEX26c.72G>T (p.Pro24=)
dbSNP gnomAD v4
22g.18078449G>ACA410264357PEX26c.73G>A (p.Val25Met)
gnomAD v4
22g.18078449G>CCA410264353PEX26c.73G>C (p.Val25Leu)
dbSNP
22g.18078449G=CA2395402767PEX26c.73G= (p.Val25=)
22g.18078449G>TCA410264355PEX26c.73G>T (p.Val25Leu)
gnomAD v4
22g.18078450T>ACA410264360PEX26c.74T>A (p.Val25Glu)
22g.18078450T>CCA410264362PEX26c.74T>C (p.Val25Ala)
22g.18078450T>GCA410264365PEX26c.74T>G (p.Val25Gly)
ClinVar dbSNP
22g.18078451G>ACA10093215PEX26c.75G>A (p.Val25=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.18078451G>CCA513184822PEX26c.75G>C (p.Val25=)
22g.18078451G=CA2395402768PEX26c.75G= (p.Val25=)
22g.18078451G>TCA513184824PEX26c.75G>T (p.Val25=)
gnomAD v4
22g.18078452C>ACA410264372PEX26c.76C>A (p.Arg26Ser)
gnomAD v4 COSMIC
22g.18078452C>GCA410264375PEX26c.76C>G (p.Arg26Gly)
22g.18078452C>TCA410264378PEX26c.76C>T (p.Arg26Cys)
gnomAD v4
22g.18078453G>ACA10093216PEX26c.77G>A (p.Arg26His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.18078453G>CCA321284353PEX26c.77G>C (p.Arg26Pro)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.18078453G=CA2395402769PEX26c.77G= (p.Arg26=)
22g.18078453G>TCA410264385PEX26c.77G>T (p.Arg26Leu)
ClinVar dbSNP gnomAD v3 gnomAD v4
22g.18078454C>ACA513184833PEX26c.78C>A (p.Arg26=)
gnomAD v4
22g.18078454C=CA2395402770PEX26c.78C= (p.Arg26=)
22g.18078454C>GCA513184835PEX26c.78C>G (p.Arg26=)
ClinVar gnomAD v4
22g.18078454C>TCA513184837PEX26c.78C>T (p.Arg26=)
dbSNP gnomAD v4
22g.18078455G>ACA10093217PEX26c.79G>A (p.Ala27Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.18078455G>CCA410264392PEX26c.79G>C (p.Ala27Pro)
22g.18078455G=CA2395402771PEX26c.79G= (p.Ala27=)
22g.18078455G>TCA410264388PEX26c.79G>T (p.Ala27Ser)
gnomAD v4
22g.18078456C>ACA410264398PEX26c.80C>A (p.Ala27Glu)
gnomAD v4
22g.18078456C>GCA410264401PEX26c.80C>G (p.Ala27Gly)
dbSNP gnomAD v3 gnomAD v4
22g.18078456C>TCA410264404PEX26c.80C>T (p.Ala27Val)
gnomAD v4
22g.18078457G>ACA513184846PEX26c.81G>A (p.Ala27=)
dbSNP gnomAD v4
22g.18078457G>CCA513184847PEX26c.81G>C (p.Ala27=)
dbSNP gnomAD v3 gnomAD v4
22g.18078457G=CA2395402772PEX26c.81G= (p.Ala27=)
22g.18078457G>TCA513184849PEX26c.81G>T (p.Ala27=)
gnomAD v4
22g.18078458G>ACA410264407PEX26c.82G>A (p.Val28Ile)
22g.18078458G>CCA410264409PEX26c.82G>C (p.Val28Leu)
22g.18078458G=CA2395402773PEX26c.82G= (p.Val28=)
22g.18078458G>TCA410264412PEX26c.82G>T (p.Val28Phe)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.18078459T>ACA410264415PEX26c.83T>A (p.Val28Asp)
22g.18078459T>CCA410264418PEX26c.83T>C (p.Val28Ala)
22g.18078459T>GCA410264422PEX26c.83T>G (p.Val28Gly)
22g.18078460C>ACA513184862PEX26c.84C>A (p.Val28=)
gnomAD v4
22g.18078460C=CA2395402774PEX26c.84C= (p.Val28=)
22g.18078460C>GCA321284366PEX26c.84C>G (p.Val28=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.18078460C>TCA513184865PEX26c.84C>T (p.Val28=)
ClinVar gnomAD v4
22g.18078461C>ACA410264427PEX26c.85C>A (p.Pro29Thr)
gnomAD v4
22g.18078461C>GCA410264429PEX26c.85C>G (p.Pro29Ala)
22g.18078461C>TCA410264433PEX26c.85C>T (p.Pro29Ser)
gnomAD v4
22g.18078462C>ACA410264441PEX26c.86C>A (p.Pro29Gln)
ClinVar dbSNP gnomAD v3 gnomAD v4
22g.18078462C=CA2395402775PEX26c.86C= (p.Pro29=)
22g.18078462C>GCA410264444PEX26c.86C>G (p.Pro29Arg)
gnomAD v4
22g.18078462C>TCA410264439PEX26c.86C>T (p.Pro29Leu)
22g.18078463G>ACA10093218PEX26c.87G>A (p.Pro29=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.18078463G>CCA513184876PEX26c.87G>C (p.Pro29=)
ClinVar
22g.18078463G=CA2395402776PEX26c.87G= (p.Pro29=)
22g.18078463G>TCA513184873PEX26c.87G>T (p.Pro29=)
ClinVar
22g.18078464G>ACA410264452PEX26c.88G>A (p.Ala30Thr)
dbSNP gnomAD v2
22g.18078464G>CCA410264455PEX26c.88G>C (p.Ala30Pro)
gnomAD v4
22g.18078464G=CA2395402777PEX26c.88G= (p.Ala30=)
22g.18078464G>TCA410264459PEX26c.88G>T (p.Ala30Ser)
gnomAD v4
22g.18078465C>ACA410264461PEX26c.89C>A (p.Ala30Asp)
22g.18078465C=CA2395402778PEX26c.89C= (p.Ala30=)
22g.18078465C>GCA410264464PEX26c.89C>G (p.Ala30Gly)
22g.18078465C>TCA10093219PEX26c.89C>T (p.Ala30Val)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.18078466C>ACA513184889PEX26c.90C>A (p.Ala30=)
gnomAD v4
22g.18078466C>GCA513184887PEX26c.90C>G (p.Ala30=)
22g.18078466C>TCA513184885PEX26c.90C>T (p.Ala30=)
ClinVar gnomAD v4
22g.18078467C>ACA513184892PEX26c.91C>A (p.Arg31=)
gnomAD v4
22g.18078467C=CA2395402779PEX26c.91C= (p.Arg31=)
22g.18078467C>GCA410264469PEX26c.91C>G (p.Arg31Gly)
dbSNP
22g.18078467C>TCA10093220PEX26c.91C>T (p.Arg31Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.18078468G>ACA410264476PEX26c.92G>A (p.Arg31Gln)
ClinVar dbSNP gnomAD v4
22g.18078468G>CCA410264480PEX26c.92G>C (p.Arg31Pro)
22g.18078468G=CA2395402780PEX26c.92G= (p.Arg31=)
22g.18078468G>TCA410264483PEX26c.92G>T (p.Arg31Leu)
gnomAD v4
22g.18078470delCA2655183885PEX26c.94del (p.Ala32ArgfsTer?)
gnomAD v4
22g.18078469G>ACA513184901PEX26c.93G>A (p.Arg31=)
gnomAD v4
22g.18078469G>CCA513184904PEX26c.93G>C (p.Arg31=)
22g.18078469G>TCA513184902PEX26c.93G>T (p.Arg31=)
22g.18078470G>ACA410264487PEX26c.94G>A (p.Ala32Thr)
gnomAD v4
22g.18078470G>CCA410264490PEX26c.94G>C (p.Ala32Pro)
22g.18078470G>TCA410264493PEX26c.94G>T (p.Ala32Ser)
22g.18078471C>ACA410264496PEX26c.95C>A (p.Ala32Glu)
gnomAD v4
22g.18078471C>GCA410264502PEX26c.95C>G (p.Ala32Gly)
22g.18078471C>TCA410264500PEX26c.95C>T (p.Ala32Val)
gnomAD v4
22g.18078472G>ACA513184912PEX26c.96G>A (p.Ala32=)
gnomAD v4
22g.18078472G>CCA513184913PEX26c.96G>C (p.Ala32=)
dbSNP gnomAD v2 gnomAD v4
22g.18078472G=CA2395402781PEX26c.96G= (p.Ala32=)
22g.18078472G>TCA513184914PEX26c.96G>T (p.Ala32=)
ClinVar gnomAD v4
22g.18078473C>ACA410264506PEX26c.97C>A (p.Pro33Thr)
22g.18078473C=CA2395402782PEX26c.97C= (p.Pro33=)
22g.18078473C>GCA410264509PEX26c.97C>G (p.Pro33Ala)
22g.18078473C>TCA410264512PEX26c.97C>T (p.Pro33Ser)
dbSNP gnomAD v2 gnomAD v4
22g.18078474C>ACA410264516PEX26c.98C>A (p.Pro33Gln)
22g.18078474C=CA2395402783PEX26c.98C= (p.Pro33=)
22g.18078474C>GCA10093222PEX26c.98C>G (p.Pro33Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.18078474C>TCA10093221PEX26c.98C>T (p.Pro33Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.18078475G>ACA513184924PEX26c.99G>A (p.Pro33=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.18078475G>CCA513184925PEX26c.99G>C (p.Pro33=)
ClinVar dbSNP gnomAD v3 gnomAD v4
22g.18078475G=CA2395402784PEX26c.99G= (p.Pro33=)
22g.18078475G>TCA513184927PEX26c.99G>T (p.Pro33=)
gnomAD v4
22g.18078476G>ACA10093223PEX26c.100G>A (p.Ala34Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.18078476G>CCA410264527PEX26c.100G>C (p.Ala34Pro)
22g.18078476G=CA2395402785PEX26c.100G= (p.Ala34=)
22g.18078476G>TCA410264530PEX26c.100G>T (p.Ala34Ser)
dbSNP gnomAD v4
22g.18078477C>ACA410264536PEX26c.101C>A (p.Ala34Asp)
22g.18078477C>GCA410264539PEX26c.101C>G (p.Ala34Gly)
22g.18078477C>TCA410264543PEX26c.101C>T (p.Ala34Val)
gnomAD v4
22g.18078478C>ACA513184936PEX26c.102C>A (p.Ala34=)
22g.18078478C=CA2395402786PEX26c.102C= (p.Ala34=)
22g.18078478C>GCA513184938PEX26c.102C>G (p.Ala34=)
ClinVar dbSNP gnomAD v4
22g.18078478C>TCA513184939PEX26c.102C>T (p.Ala34=)
dbSNP gnomAD v2
22g.18078479G>ACA10093224PEX26c.103G>A (p.Val35Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.18078479G>CCA410264550PEX26c.103G>C (p.Val35Leu)
22g.18078479G=CA2395402787PEX26c.103G= (p.Val35=)
22g.18078479G>TCA410264545PEX26c.103G>T (p.Val35Leu)
gnomAD v4
22g.18078480T>ACA410264559PEX26c.104T>A (p.Val35Glu)
22g.18078480T>CCA410264563PEX26c.104T>C (p.Val35Ala)
22g.18078480T>GCA410264561PEX26c.104T>G (p.Val35Gly)
22g.18078481G>ACA321284390PEX26c.105G>A (p.Val35=)
ClinVar dbSNP gnomAD v2 gnomAD v4
22g.18078481G>CCA513184950PEX26c.105G>C (p.Val35=)
22g.18078481G=CA2395402788PEX26c.105G= (p.Val35=)
22g.18078481G>TCA513184952PEX26c.105G>T (p.Val35=)
gnomAD v4
22g.18078482G>ACA410264566PEX26c.106G>A (p.Asp36Asn)
22g.18078482G>CCA410264567PEX26c.106G>C (p.Asp36His)
22g.18078482G>TCA410264570PEX26c.106G>T (p.Asp36Tyr)
gnomAD v4
22g.18078483A=CA2395402789PEX26c.107A= (p.Asp36=)
22g.18078483A>CCA410264572PEX26c.107A>C (p.Asp36Ala)
22g.18078483A>GCA410264574PEX26c.107A>G (p.Asp36Gly)
ClinVar dbSNP gnomAD v4
22g.18078483A>TCA410264576PEX26c.107A>T (p.Asp36Val)
22g.18078484C>ACA410264579PEX26c.108C>A (p.Asp36Glu)
dbSNP gnomAD v2
22g.18078484C=CA2395402790PEX26c.108C= (p.Asp36=)
22g.18078484C>GCA410264581PEX26c.108C>G (p.Asp36Glu)
22g.18078484C>TCA513184962PEX26c.108C>T (p.Asp36=)
gnomAD v4
22g.18078485C>ACA410264586PEX26c.109C>A (p.Leu37Ile)
22g.18078485C=CA2395402791PEX26c.109C= (p.Leu37=)
22g.18078485C>GCA410264589PEX26c.109C>G (p.Leu37Val)
22g.18078485C>TCA410264592PEX26c.109C>T (p.Leu37Phe)
ClinVar dbSNP COSMIC
22g.18078486T>ACA410264597PEX26c.110T>A (p.Leu37His)
22g.18078486T>CCA410264600PEX26c.110T>C (p.Leu37Pro)
22g.18078486T>GCA410264605PEX26c.110T>G (p.Leu37Arg)
ClinVar
22g.18078487T>ACA513184972PEX26c.111T>A (p.Leu37=)
22g.18078487T>CCA513184974PEX26c.111T>C (p.Leu37=)
22g.18078487T>GCA513184975PEX26c.111T>G (p.Leu37=)
ClinVar
22g.18078488C>ACA410264613PEX26c.112C>A (p.Leu38Met)
dbSNP gnomAD v2 gnomAD v4
22g.18078488C=CA2395402792PEX26c.112C= (p.Leu38=)
22g.18078488C>GCA410264609PEX26c.112C>G (p.Leu38Val)
22g.18078488C>TCA513184980PEX26c.112C>T (p.Leu38=)
ClinVar dbSNP gnomAD v2

Number of alleles fetched