Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.18078359delCA2655183337PEX26c.-18del (n.-18del)
gnomAD v4
22g.18078359C>ACA513184562PEX26c.-18C>A (n.-18C>A)
gnomAD v4
22g.18078359C>GCA513184563PEX26c.-18C>G (n.-18C>G)
22g.18078359C>TCA513184564PEX26c.-18C>T (n.-18C>T)
gnomAD v4
22g.18078360T>ACA513184565PEX26c.-17T>A (n.-17T>A)
gnomAD v4
22g.18078360T>CCA513184567PEX26c.-17T>C (n.-17T>C)
dbSNP gnomAD v3 gnomAD v4
22g.18078360T>GCA513184568PEX26c.-17T>G (n.-17T>G)
22g.18078360T=CA2395402703PEX26c.-17T= (n.-17T=)
22g.18078360_18078361insACA2655183345PEX26c.-17_-16insA (n.-17_-16insA)
gnomAD v4
22g.18078361T>ACA513184571PEX26c.-16T>A (n.-16T>A)
22g.18078361T>CCA513184570PEX26c.-16T>C (n.-16T>C)
gnomAD v4
22g.18078361T>GCA513184569PEX26c.-16T>G (n.-16T>G)
dbSNP gnomAD v4
22g.18078361T=CA2395402704PEX26c.-16T= (n.-16T=)
22g.18078362G>ACA513184572PEX26c.-15G>A (n.-15G>A)
dbSNP gnomAD v3 gnomAD v4
22g.18078362G>CCA513184573PEX26c.-15G>C (n.-15G>C)
22g.18078362G=CA2395402705PEX26c.-15G= (n.-15G=)
22g.18078362G>TCA321284180PEX26c.-15G>T (n.-15G>T)
dbSNP gnomAD v4
22g.18078363G>ACA513184574PEX26c.-14G>A (n.-14G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.18078363G>CCA513184575PEX26c.-14G>C (n.-14G>C)
22g.18078363G=CA2395402706PEX26c.-14G= (n.-14G=)
22g.18078363G>TCA513184576PEX26c.-14G>T (n.-14G>T)
gnomAD v4
22g.18078364A>CCA513184577PEX26c.-13A>C (n.-13A>C)
22g.18078364A>GCA513184578PEX26c.-13A>G (n.-13A>G)
gnomAD v4
22g.18078364A>TCA513184580PEX26c.-13A>T (n.-13A>T)
22g.18078364_18078365delinsACCA2395402707PEX26c.-13_-12delinsAC (n.-13_-12delinsAC)
22g.18078365C>ACA513184581PEX26c.-12C>A (n.-12C>A)
gnomAD v4
22g.18078365C>GCA513184582PEX26c.-12C>G (n.-12C>G)
22g.18078365C>TCA513184583PEX26c.-12C>T (n.-12C>T)
gnomAD v4
22g.18078367delCA638502281PEX26c.-10del (n.-10del)
dbSNP gnomAD v2
22g.18078366C>ACA513184586PEX26c.-11C>A (n.-11C>A)
gnomAD v4
22g.18078366C>GCA513184587PEX26c.-11C>G (n.-11C>G)
22g.18078366C>TCA513184585PEX26c.-11C>T (n.-11C>T)
gnomAD v4
22g.18078367C>ACA513184588PEX26c.-10C>A (n.-10C>A)
gnomAD v4
22g.18078367C=CA2395402708PEX26c.-10C= (n.-10C=)
22g.18078367C>GCA513184589PEX26c.-10C>G (n.-10C>G)
22g.18078367C>TCA513184590PEX26c.-10C>T (n.-10C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.18078368G>ACA513184592PEX26c.-9G>A (n.-9G>A)
dbSNP gnomAD v2 gnomAD v4
22g.18078368G>CCA513184594PEX26c.-9G>C (n.-9G>C)
gnomAD v4
22g.18078368G=CA2395402709PEX26c.-9G= (n.-9G=)
22g.18078368G>TCA513184595PEX26c.-9G>T (n.-9G>T)
gnomAD v4
22g.18078369G>ACA513184596PEX26c.-8G>A (n.-8G>A)
gnomAD v4
22g.18078369G>CCA513184597PEX26c.-8G>C (n.-8G>C)
22g.18078369G>TCA513184598PEX26c.-8G>T (n.-8G>T)
gnomAD v4
22g.18078370A=CA2395402710PEX26c.-7A= (n.-7A=)
22g.18078370A>CCA513184599PEX26c.-7A>C (n.-7A>C)
22g.18078370A>GCA10093189PEX26c.-7A>G (n.-7A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.18078370A>TCA513184600PEX26c.-7A>T (n.-7A>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.18078371C>ACA513184602PEX26c.-6C>A (n.-6C>A)
gnomAD v4
22g.18078371C>GCA513184604PEX26c.-6C>G (n.-6C>G)
22g.18078371C>TCA513184601PEX26c.-6C>T (n.-6C>T)
gnomAD v4
22g.18078372T>ACA513184606PEX26c.-5T>A (n.-5T>A)
22g.18078372T>CCA513184607PEX26c.-5T>C (n.-5T>C)
22g.18078372T>GCA513184608PEX26c.-5T>G (n.-5T>G)
22g.18078373C>ACA513184609PEX26c.-4C>A (n.-4C>A)
gnomAD v4
22g.18078373C=CA2395402711PEX26c.-4C= (n.-4C=)
22g.18078373C>GCA513184610PEX26c.-4C>G (n.-4C>G)
22g.18078373C>TCA513184611PEX26c.-4C>T (n.-4C>T)
dbSNP gnomAD v4
22g.18078374G>ACA513184614PEX26c.-3G>A (n.-3G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.18078374G>CCA513184612PEX26c.-3G>C (n.-3G>C)
gnomAD v4
22g.18078374G=CA2395402712PEX26c.-3G= (n.-3G=)
22g.18078374G>TCA513184613PEX26c.-3G>T (n.-3G>T)
gnomAD v4
22g.18078374_18078377delCA2573157697PEX26c.-3_1del
dbSNP
22g.18078374_18078393delinsTGCAGCCCCCCTCAGGGGGCTCGGGGCA2740094766PEX26c.-3_17delinsTGCAGCCCCCCTCAGGGGGCTCGGGG
ClinVar
22g.18078375T>ACA513184615PEX26c.-2T>A (n.-2T>A)
22g.18078375T>CCA10093190PEX26c.-2T>C (n.-2T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.18078375T>GCA513184616PEX26c.-2T>G (n.-2T>G)
22g.18078375T=CA2395402713PEX26c.-2T= (n.-2T=)
22g.18078376delCA2655183392PEX26c.-1del (n.-1del)
gnomAD v4
22g.18078376T>ACA513184617PEX26c.-1T>A (n.-1T>A)
22g.18078376T>CCA513184619PEX26c.-1T>C (n.-1T>C)
gnomAD v4
22g.18078376T>GCA513184620PEX26c.-1T>G (n.-1T>G)
gnomAD v4
22g.18078377A>CCA410263933PEX26c.1A>C (p.Met1Leu)
22g.18078377A>GCA410263926PEX26c.1A>G (p.Met1Val)
22g.18078377A>TCA410263929PEX26c.1A>T (p.Met1Leu)
gnomAD v4
22g.18078378T>ACA410263937PEX26c.2T>A (p.Met1Lys)
22g.18078378T>CCA115372PEX26c.2T>C (p.Met1Thr)
ClinVar dbSNP gnomAD v4
22g.18078378T>GCA410263942PEX26c.2T>G (p.Met1Arg)
dbSNP gnomAD v2
22g.18078378T=CA2395402714PEX26c.2T= (p.Met1=)
22g.18078379G>ACA410263946PEX26c.3G>A (p.Met1Ile)
22g.18078379G>CCA410263950PEX26c.3G>C (p.Met1Ile)
22g.18078379G>TCA410263953PEX26c.3G>T (p.Met1Ile)
gnomAD v4
22g.18078381_18078383delCA2513240593PEX26c.5_7del (p.Lys2del)
22g.18078380A>CCA410263957PEX26c.4A>C (p.Lys2Gln)
22g.18078380A>GCA410263959PEX26c.4A>G (p.Lys2Glu)
22g.18078380A>TCA410263961PEX26c.4A>T (p.Lys2Ter)
22g.18078381A>CCA410263962PEX26c.5A>C (p.Lys2Thr)
22g.18078381A>GCA410263963PEX26c.5A>G (p.Lys2Arg)
22g.18078381A>TCA410263964PEX26c.5A>T (p.Lys2Met)
gnomAD v4
22g.18078382G>ACA513184623PEX26c.6G>A (p.Lys2=)
gnomAD v4
22g.18078382G>CCA410263966PEX26c.6G>C (p.Lys2Asn)
22g.18078382G>TCA410263967PEX26c.6G>T (p.Lys2Asn)
gnomAD v4
22g.18078383A>CCA410263972PEX26c.7A>C (p.Ser3Arg)
22g.18078383A>GCA410263973PEX26c.7A>G (p.Ser3Gly)
gnomAD v4
22g.18078383A>TCA410263977PEX26c.7A>T (p.Ser3Cys)
22g.18078384G>ACA410263980PEX26c.8G>A (p.Ser3Asn)
22g.18078384G>CCA410263983PEX26c.8G>C (p.Ser3Thr)
22g.18078384G>TCA410263986PEX26c.8G>T (p.Ser3Ile)
gnomAD v4
22g.18078385C>ACA410263989PEX26c.9C>A (p.Ser3Arg)
gnomAD v4
22g.18078385C=CA2395402715PEX26c.9C= (p.Ser3=)
22g.18078385C>GCA410263991PEX26c.9C>G (p.Ser3Arg)
gnomAD v4
22g.18078385C>TCA321284197PEX26c.9C>T (p.Ser3=)
ClinVar dbSNP gnomAD v4
22g.18078386G>ACA410263995PEX26c.10G>A (p.Asp4Asn)
gnomAD v4
22g.18078386G>CCA410263997PEX26c.10G>C (p.Asp4His)
gnomAD v4
22g.18078386G>TCA410264000PEX26c.10G>T (p.Asp4Tyr)
gnomAD v4
22g.18078387A=CA2395402716PEX26c.11A= (p.Asp4=)
22g.18078387A>CCA410264003PEX26c.11A>C (p.Asp4Ala)
22g.18078387A>GCA410264005PEX26c.11A>G (p.Asp4Gly)
dbSNP gnomAD v2 gnomAD v4
22g.18078387A>TCA410264008PEX26c.11A>T (p.Asp4Val)
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)

Number of alleles fetched