22 | g.18078532_18078552delinsGGCGGCGCTGGAGACCTGCGA | CA2395402820 | PEX26 | c.156_176delinsGGCGGCGCTGGAGACCTGCGA (p.Arg52=)
| |
22 | g.18078537_18078556del | CA2395402821 | PEX26 | c.161_180del (p.Ala54GlyfsTer?)
| dbSNP |
22 | g.18078545A= | CA2395402824 | PEX26 | c.169A= (p.Thr57=)
| |
22 | g.18078545A>C | CA410265057 | PEX26 | c.169A>C (p.Thr57Pro)
| |
22 | g.18078545A>G | CA10093236 | PEX26 | c.169A>G (p.Thr57Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078545A>T | CA410265061 | PEX26 | c.169A>T (p.Thr57Ser)
| |
22 | g.18078546C>A | CA410265071 | PEX26 | c.170C>A (p.Thr57Asn)
| gnomAD v4 |
22 | g.18078546C>G | CA410265066 | PEX26 | c.170C>G (p.Thr57Ser)
| gnomAD v4 |
22 | g.18078546C>T | CA410265067 | PEX26 | c.170C>T (p.Thr57Ile)
| gnomAD v4 |
22 | g.18078547C>A | CA513184490 | PEX26 | c.171C>A (p.Thr57=)
| gnomAD v4 |
22 | g.18078547C= | CA2395402825 | PEX26 | c.171C= (p.Thr57=)
| |
22 | g.18078547C>G | CA513184493 | PEX26 | c.171C>G (p.Thr57=)
| |
22 | g.18078547C>T | CA513184492 | PEX26 | c.171C>T (p.Thr57=)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.18078548T>A | CA410265077 | PEX26 | c.172T>A (p.Cys58Ser)
| gnomAD v4 |
22 | g.18078548T>C | CA410265078 | PEX26 | c.172T>C (p.Cys58Arg)
| gnomAD v4 |
22 | g.18078548T>G | CA410265080 | PEX26 | c.172T>G (p.Cys58Gly)
| |
22 | g.18078549G>A | CA410265083 | PEX26 | c.173G>A (p.Cys58Tyr)
| gnomAD v4 |
22 | g.18078549G>C | CA410265086 | PEX26 | c.173G>C (p.Cys58Ser)
| |
22 | g.18078549G>T | CA410265089 | PEX26 | c.173G>T (p.Cys58Phe)
| gnomAD v4 |
22 | g.18078550C>A | CA410265092 | PEX26 | c.174C>A (p.Cys58Ter)
| gnomAD v4 |
22 | g.18078550C>G | CA410265094 | PEX26 | c.174C>G (p.Cys58Trp)
| ClinVar |
22 | g.18078550C>T | CA513184504 | PEX26 | c.174C>T (p.Cys58=)
| ClinVar dbSNP gnomAD v4 |
22 | g.18078551G>A | CA410265096 | PEX26 | c.175G>A (p.Glu59Lys)
| ClinVar dbSNP gnomAD v4 |
22 | g.18078551G>C | CA410265099 | PEX26 | c.175G>C (p.Glu59Gln)
| gnomAD v4 |
22 | g.18078551G= | CA2395402826 | PEX26 | c.175G= (p.Glu59=)
| |
22 | g.18078551G>T | CA10093237 | PEX26 | c.175G>T (p.Glu59Ter)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
22 | g.18078552A>C | CA410265113 | PEX26 | c.176A>C (p.Glu59Ala)
| |
22 | g.18078552A>G | CA410265110 | PEX26 | c.176A>G (p.Glu59Gly)
| |
22 | g.18078552A>T | CA410265107 | PEX26 | c.176A>T (p.Glu59Val)
| |
22 | g.18078553G>A | CA10093239 | PEX26 | c.177G>A (p.Glu59=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078553G>C | CA410265119 | PEX26 | c.177G>C (p.Glu59Asp)
| gnomAD v4 |
22 | g.18078553G= | CA2395402827 | PEX26 | c.177G= (p.Glu59=)
| |
22 | g.18078553G>T | CA410265122 | PEX26 | c.177G>T (p.Glu59Asp)
| gnomAD v4 |
22 | g.18078553_18078554delinsGC | CA2395402829 | PEX26 | c.177_178delinsGC (p.Glu59=)
| |
22 | g.18078553_18078555delinsGCG | CA2395402828 | PEX26 | c.177_179delinsGCG (p.Glu59=)
| |
22 | g.18078554del | CA10093238 | PEX26 | c.178del (p.Arg60GlyfsTer22)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.18078554C>A | CA513184521 | PEX26 | c.178C>A (p.Arg60=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078554C= | CA2395402830 | PEX26 | c.178C= (p.Arg60=)
| |
22 | g.18078554C>G | CA410265127 | PEX26 | c.178C>G (p.Arg60Gly)
| |
22 | g.18078554C>T | CA410265130 | PEX26 | c.178C>T (p.Arg60Trp)
| gnomAD v4 |
22 | g.18078554_18078555delinsA | CA1139666952 | PEX26 | c.178_179delinsA (p.Ala61ProfsTer21)
| ClinVar dbSNP |
22 | g.18078555G>A | CA10093240 | PEX26 | c.179G>A (p.Arg60Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
22 | g.18078555G>C | CA410265136 | PEX26 | c.179G>C (p.Arg60Pro)
| gnomAD v4 |
22 | g.18078555G= | CA2395402831 | PEX26 | c.179G= (p.Arg60=)
| |
22 | g.18078555G>T | CA410265139 | PEX26 | c.179G>T (p.Arg60Leu)
| gnomAD v4 |
22 | g.18078556G>A | CA513184533 | PEX26 | c.180G>A (p.Arg60=)
| ClinVar |
22 | g.18078556G>C | CA513184535 | PEX26 | c.180G>C (p.Arg60=)
| |
22 | g.18078556G>T | CA513184531 | PEX26 | c.180G>T (p.Arg60=)
| gnomAD v4 |
22 | g.18078557G>A | CA410265143 | PEX26 | c.181G>A (p.Ala61Thr)
| gnomAD v4 |
22 | g.18078557G>C | CA410265145 | PEX26 | c.181G>C (p.Ala61Pro)
| |
22 | g.18078557G= | CA2395402832 | PEX26 | c.181G= (p.Ala61=)
| |
22 | g.18078557G>T | CA410265149 | PEX26 | c.181G>T (p.Ala61Ser)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.18078558C>A | CA410265160 | PEX26 | c.182C>A (p.Ala61Asp)
| gnomAD v4 |
22 | g.18078558C>G | CA410265157 | PEX26 | c.182C>G (p.Ala61Gly)
| |
22 | g.18078558C>T | CA410265153 | PEX26 | c.182C>T (p.Ala61Val)
| gnomAD v4 |
22 | g.18078559C>A | CA513184545 | PEX26 | c.183C>A (p.Ala61=)
| gnomAD v4 |
22 | g.18078559C>G | CA513184546 | PEX26 | c.183C>G (p.Ala61=)
| gnomAD v4 |
22 | g.18078559C>T | CA513184548 | PEX26 | c.183C>T (p.Ala61=)
| ClinVar |
22 | g.18078559_18078584delinsCTGGCAGAGTCTGGCCAACCACGCCG | CA2395402833 | PEX26 | c.183_208delinsCTGGCAGAGTCTGGCCAACCACGCCG (p.Ala61=)
| |
22 | g.18078560T>A | CA410265163 | PEX26 | c.184T>A (p.Trp62Arg)
| gnomAD v4 |
22 | g.18078560T>C | CA410265167 | PEX26 | c.184T>C (p.Trp62Arg)
| gnomAD v4 |
22 | g.18078560T>G | CA410265169 | PEX26 | c.184T>G (p.Trp62Gly)
| |
22 | g.18078568_18078592del | CA321284536 | PEX26 | c.192_216del (p.Ser64ArgfsTer10)
| ClinVar dbSNP |
22 | g.18078561G>A | CA410265173 | PEX26 | c.185G>A (p.Trp62Ter)
| ClinVar dbSNP gnomAD v4 |
22 | g.18078561G>C | CA410265180 | PEX26 | c.185G>C (p.Trp62Ser)
| |
22 | g.18078561G= | CA2395402834 | PEX26 | c.185G= (p.Trp62=)
| |
22 | g.18078561G>T | CA410265183 | PEX26 | c.185G>T (p.Trp62Leu)
| gnomAD v4 |
22 | g.18078562G>A | CA410265188 | PEX26 | c.186G>A (p.Trp62Ter)
| dbSNP gnomAD v4 |
22 | g.18078562G>C | CA410265191 | PEX26 | c.186G>C (p.Trp62Cys)
| |
22 | g.18078562G= | CA2395402835 | PEX26 | c.186G= (p.Trp62=)
| |
22 | g.18078562G>T | CA410265195 | PEX26 | c.186G>T (p.Trp62Cys)
| gnomAD v4 |
22 | g.18078563C>A | CA410265198 | PEX26 | c.187C>A (p.Gln63Lys)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.18078563C= | CA2395402836 | PEX26 | c.187C= (p.Gln63=)
| |
22 | g.18078563C>G | CA10093241 | PEX26 | c.187C>G (p.Gln63Glu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078563C>T | CA410265203 | PEX26 | c.187C>T (p.Gln63Ter)
| gnomAD v4 |
22 | g.18078564A= | CA2395402837 | PEX26 | c.188A= (p.Gln63=)
| |
22 | g.18078564A>C | CA410265210 | PEX26 | c.188A>C (p.Gln63Pro)
| |
22 | g.18078564A>G | CA410265208 | PEX26 | c.188A>G (p.Gln63Arg)
| dbSNP gnomAD v4 |
22 | g.18078564A>T | CA410265205 | PEX26 | c.188A>T (p.Gln63Leu)
| |
22 | g.18078566_18078567del | CA2655184179 | PEX26 | c.190_191del (p.Leu65GlyfsTer?)
| ClinVar gnomAD v4 |
22 | g.18078565G>A | CA513184566 | PEX26 | c.189G>A (p.Gln63=)
| ClinVar gnomAD v4 |
22 | g.18078565G>C | CA410265213 | PEX26 | c.189G>C (p.Gln63His)
| dbSNP |
22 | g.18078565G= | CA2395402838 | PEX26 | c.189G= (p.Gln63=)
| |
22 | g.18078565G>T | CA410265214 | PEX26 | c.189G>T (p.Gln63His)
| gnomAD v4 |
22 | g.18078566A>C | CA410265217 | PEX26 | c.190A>C (p.Ser64Arg)
| |
22 | g.18078566A>G | CA410265219 | PEX26 | c.190A>G (p.Ser64Gly)
| |
22 | g.18078566A>T | CA410265220 | PEX26 | c.190A>T (p.Ser64Cys)
| |
22 | g.18078567G>A | CA410265223 | PEX26 | c.191G>A (p.Ser64Asn)
| |
22 | g.18078567G>C | CA410265225 | PEX26 | c.191G>C (p.Ser64Thr)
| gnomAD v4 |
22 | g.18078567G>T | CA410265226 | PEX26 | c.191G>T (p.Ser64Ile)
| gnomAD v4 |
22 | g.18078568T>A | CA321284542 | PEX26 | c.192T>A (p.Ser64Arg)
| dbSNP |
22 | g.18078568T>C | CA513184579 | PEX26 | c.192T>C (p.Ser64=)
| gnomAD v4 |
22 | g.18078568T>G | CA410265230 | PEX26 | c.192T>G (p.Ser64Arg)
| |
22 | g.18078568T= | CA2395402839 | PEX26 | c.192T= (p.Ser64=)
| |
22 | g.18078569C>A | CA410265232 | PEX26 | c.193C>A (p.Leu65Met)
| |
22 | g.18078569C>G | CA410265234 | PEX26 | c.193C>G (p.Leu65Val)
| |
22 | g.18078569C>T | CA513184584 | PEX26 | c.193C>T (p.Leu65=)
| |
22 | g.18078570T>A | CA410265236 | PEX26 | c.194T>A (p.Leu65Gln)
| |
22 | g.18078570T>C | CA410265239 | PEX26 | c.194T>C (p.Leu65Pro)
| |
22 | g.18078570T>G | CA410265241 | PEX26 | c.194T>G (p.Leu65Arg)
| |
22 | g.18078571G>A | CA321284545 | PEX26 | c.195G>A (p.Leu65=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.18078571G>C | CA513184593 | PEX26 | c.195G>C (p.Leu65=)
| |
22 | g.18078571G= | CA2395402840 | PEX26 | c.195G= (p.Leu65=)
| |
22 | g.18078571G>T | CA513184591 | PEX26 | c.195G>T (p.Leu65=)
| gnomAD v4 |
22 | g.18078572G>A | CA410265244 | PEX26 | c.196G>A (p.Ala66Thr)
| gnomAD v4 |
22 | g.18078572G>C | CA410265248 | PEX26 | c.196G>C (p.Ala66Pro)
| |
22 | g.18078572G>T | CA410265246 | PEX26 | c.196G>T (p.Ala66Ser)
| gnomAD v4 |
22 | g.18078573C>A | CA410265251 | PEX26 | c.197C>A (p.Ala66Asp)
| gnomAD v4 |
22 | g.18078573C= | CA2395402841 | PEX26 | c.197C= (p.Ala66=)
| |
22 | g.18078573C>G | CA410265253 | PEX26 | c.197C>G (p.Ala66Gly)
| |
22 | g.18078573C>T | CA410265255 | PEX26 | c.197C>T (p.Ala66Val)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078576_18078579dup | CA2655184201 | PEX26 | c.200_203dup (p.His68GlnfsTer?)
| gnomAD v4 |
22 | g.18078574C>A | CA513184603 | PEX26 | c.198C>A (p.Ala66=)
| gnomAD v4 |
22 | g.18078574C= | CA2395402842 | PEX26 | c.198C= (p.Ala66=)
| |
22 | g.18078574C>G | CA513184605 | PEX26 | c.198C>G (p.Ala66=)
| |
22 | g.18078574C>T | CA10093242 | PEX26 | c.198C>T (p.Ala66=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078575A>C | CA410265259 | PEX26 | c.199A>C (p.Asn67His)
| |
22 | g.18078575A>G | CA410265260 | PEX26 | c.199A>G (p.Asn67Asp)
| gnomAD v4 |
22 | g.18078575A>T | CA410265263 | PEX26 | c.199A>T (p.Asn67Tyr)
| |
22 | g.18078576del | CA2655184210 | PEX26 | c.200del (p.Asn67ThrfsTer15)
| gnomAD v4 |
22 | g.18078576A= | CA2395402843 | PEX26 | c.200A= (p.Asn67=)
| |
22 | g.18078576A>C | CA410265266 | PEX26 | c.200A>C (p.Asn67Thr)
| |
22 | g.18078576A>G | CA10093243 | PEX26 | c.200A>G (p.Asn67Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078576A>T | CA410265269 | PEX26 | c.200A>T (p.Asn67Ile)
| |
22 | g.18078577C>A | CA410265271 | PEX26 | c.201C>A (p.Asn67Lys)
| gnomAD v4 |
22 | g.18078577C= | CA2395402844 | PEX26 | c.201C= (p.Asn67=)
| |
22 | g.18078577C>G | CA410265273 | PEX26 | c.201C>G (p.Asn67Lys)
| gnomAD v4 |
22 | g.18078577C>T | CA513184618 | PEX26 | c.201C>T (p.Asn67=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078578C>A | CA410265275 | PEX26 | c.202C>A (p.His68Asn)
| gnomAD v4 |
22 | g.18078578C>G | CA410265277 | PEX26 | c.202C>G (p.His68Asp)
| |
22 | g.18078578C>T | CA410265276 | PEX26 | c.202C>T (p.His68Tyr)
| dbSNP gnomAD v4 |
22 | g.18078579A>C | CA410265279 | PEX26 | c.203A>C (p.His68Pro)
| |
22 | g.18078579A>G | CA410265280 | PEX26 | c.203A>G (p.His68Arg)
| gnomAD v4 |
22 | g.18078579A>T | CA410265282 | PEX26 | c.203A>T (p.His68Leu)
| |
22 | g.18078580C>A | CA410265285 | PEX26 | c.204C>A (p.His68Gln)
| gnomAD v4 |
22 | g.18078580C>G | CA410265287 | PEX26 | c.204C>G (p.His68Gln)
| |
22 | g.18078580C>T | CA513184621 | PEX26 | c.204C>T (p.His68=)
| ClinVar gnomAD v4 |
22 | g.18078581G>A | CA10093244 | PEX26 | c.205G>A (p.Ala69Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
22 | g.18078581G>C | CA410265290 | PEX26 | c.205G>C (p.Ala69Pro)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.18078581G= | CA2395402845 | PEX26 | c.205G= (p.Ala69=)
| |
22 | g.18078581G>T | CA410265291 | PEX26 | c.205G>T (p.Ala69Ser)
| gnomAD v4 |
22 | g.18078582C>A | CA410265294 | PEX26 | c.206C>A (p.Ala69Asp)
| gnomAD v4 |
22 | g.18078582C= | CA2395402846 | PEX26 | c.206C= (p.Ala69=)
| |
22 | g.18078582C>G | CA410265296 | PEX26 | c.206C>G (p.Ala69Gly)
| |
22 | g.18078582C>T | CA410265298 | PEX26 | c.206C>T (p.Ala69Val)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.18078583C>A | CA513184622 | PEX26 | c.207C>A (p.Ala69=)
| dbSNP gnomAD v4 |
22 | g.18078583C= | CA2395402847 | PEX26 | c.207C= (p.Ala69=)
| |
22 | g.18078583C>G | CA513184624 | PEX26 | c.207C>G (p.Ala69=)
| gnomAD v4 |
22 | g.18078583C>T | CA10093245 | PEX26 | c.207C>T (p.Ala69=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078584G>A | CA410265304 | PEX26 | c.208G>A (p.Val70Met)
| gnomAD v4 |
22 | g.18078584G>C | CA410265302 | PEX26 | c.208G>C (p.Val70Leu)
| |
22 | g.18078584G= | CA2395402848 | PEX26 | c.208G= (p.Val70=)
| |
22 | g.18078584G>T | CA10093246 | PEX26 | c.208G>T (p.Val70Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078585T>A | CA410265305 | PEX26 | c.209T>A (p.Val70Glu)
| |
22 | g.18078585T>C | CA410265307 | PEX26 | c.209T>C (p.Val70Ala)
| gnomAD v4 |
22 | g.18078585T>G | CA410265309 | PEX26 | c.209T>G (p.Val70Gly)
| |
22 | g.18078586G>A | CA513184625 | PEX26 | c.210G>A (p.Val70=)
| gnomAD v4 |
22 | g.18078586G>C | CA513184626 | PEX26 | c.210G>C (p.Val70=)
| |
22 | g.18078586G>T | CA513184627 | PEX26 | c.210G>T (p.Val70=)
| gnomAD v4 |
22 | g.18078587dup | CA2831039145 | PEX26 | c.211dup (p.Ala71GlyfsTer?)
| |
22 | g.18078587G>A | CA410265311 | PEX26 | c.211G>A (p.Ala71Thr)
| gnomAD v4 |
22 | g.18078587G>C | CA410265313 | PEX26 | c.211G>C (p.Ala71Pro)
| |
22 | g.18078587G= | CA2395402849 | PEX26 | c.211G= (p.Ala71=)
| |
22 | g.18078587G>T | CA410265315 | PEX26 | c.211G>T (p.Ala71Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.18078588C>A | CA410265318 | PEX26 | c.212C>A (p.Ala71Glu)
| gnomAD v4 |
22 | g.18078588C= | CA2395402850 | PEX26 | c.212C= (p.Ala71=)
| |
22 | g.18078588C>G | CA410265320 | PEX26 | c.212C>G (p.Ala71Gly)
| dbSNP |
22 | g.18078588C>T | CA410265322 | PEX26 | c.212C>T (p.Ala71Val)
| gnomAD v4 |
22 | g.18078589A>C | CA513184628 | PEX26 | c.213A>C (p.Ala71=)
| |
22 | g.18078589A>G | CA513184629 | PEX26 | c.213A>G (p.Ala71=)
| gnomAD v4 |
22 | g.18078589A>T | CA513184631 | PEX26 | c.213A>T (p.Ala71=)
| gnomAD v4 |
22 | g.18078590G>A | CA410265324 | PEX26 | c.214G>A (p.Glu72Lys)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.18078590G>C | CA10093247 | PEX26 | c.214G>C (p.Glu72Gln)
| dbSNP ExAC gnomAD v4 |
22 | g.18078590G= | CA2395402851 | PEX26 | c.214G= (p.Glu72=)
| |
22 | g.18078590G>T | CA410265327 | PEX26 | c.214G>T (p.Glu72Ter)
| gnomAD v4 |
22 | g.18078591A>C | CA410265330 | PEX26 | c.215A>C (p.Glu72Ala)
| |
22 | g.18078591A>G | CA410265334 | PEX26 | c.215A>G (p.Glu72Gly)
| gnomAD v4 |
22 | g.18078591A>T | CA410265332 | PEX26 | c.215A>T (p.Glu72Val)
| gnomAD v4 |
22 | g.18078592G>A | CA513184635 | PEX26 | c.216G>A (p.Glu72=)
| |
22 | g.18078592G>C | CA410265337 | PEX26 | c.216G>C (p.Glu72Asp)
| |
22 | g.18078592G>T | CA410265339 | PEX26 | c.216G>T (p.Glu72Asp)
| gnomAD v4 |
22 | g.18078593G>A | CA410265342 | PEX26 | c.217G>A (p.Glu73Lys)
| gnomAD v4 |
22 | g.18078593G>C | CA10093248 | PEX26 | c.217G>C (p.Glu73Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.18078593G= | CA2395402852 | PEX26 | c.217G= (p.Glu73=)
| |
22 | g.18078593G>T | CA410265344 | PEX26 | c.217G>T (p.Glu73Ter)
| gnomAD v4 |
22 | g.18078594A= | CA2395402853 | PEX26 | c.218A= (p.Glu73=)
| |
22 | g.18078594A>C | CA410265349 | PEX26 | c.218A>C (p.Glu73Ala)
| |
22 | g.18078594A>G | CA410265350 | PEX26 | c.218A>G (p.Glu73Gly)
| |
22 | g.18078594A>T | CA10093249 | PEX26 | c.218A>T (p.Glu73Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.18078595A>C | CA410265354 | PEX26 | c.219A>C (p.Glu73Asp)
| |
22 | g.18078595A>G | CA513184638 | PEX26 | c.219A>G (p.Glu73=)
| |
22 | g.18078595A>T | CA410265356 | PEX26 | c.219A>T (p.Glu73Asp)
| |
22 | g.18078596C>A | CA410265362 | PEX26 | c.220C>A (p.Pro74Thr)
| gnomAD v4 |
22 | g.18078596C= | CA2395402854 | PEX26 | c.220C= (p.Pro74=)
| |
22 | g.18078596C>G | CA410265361 | PEX26 | c.220C>G (p.Pro74Ala)
| dbSNP |
22 | g.18078596C>T | CA410265359 | PEX26 | c.220C>T (p.Pro74Ser)
| gnomAD v4 |
22 | g.18078597C>A | CA410265366 | PEX26 | c.221C>A (p.Pro74His)
| gnomAD v4 |
22 | g.18078597C= | CA2395402855 | PEX26 | c.221C= (p.Pro74=)
| |
22 | g.18078597C>G | CA410265367 | PEX26 | c.221C>G (p.Pro74Arg)
| |
22 | g.18078597C>T | CA410265370 | PEX26 | c.221C>T (p.Pro74Leu)
| dbSNP |
22 | g.18078599_18079914del | CA913203502 | PEX26 | c.223_271del
| |
22 | g.18078598C>A | CA513184642 | PEX26 | c.222C>A (p.Pro74=)
| gnomAD v4 COSMIC |
22 | g.18078598C= | CA2395402856 | PEX26 | c.222C= (p.Pro74=)
| |
22 | g.18078598C>G | CA513184643 | PEX26 | c.222C>G (p.Pro74=)
| dbSNP gnomAD v3 gnomAD v4 |
22 | g.18078598C>T | CA513184644 | PEX26 | c.222C>T (p.Pro74=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.18078599G>A | CA410265373 | PEX26 | c.223G>A (p.Ala75Thr)
| gnomAD v4 |
22 | g.18078599G>C | CA410265375 | PEX26 | c.223G>C (p.Ala75Pro)
| |
22 | g.18078599G>T | CA410265377 | PEX26 | c.223G>T (p.Ala75Ser)
| gnomAD v4 |
22 | g.18078600C>A | CA410265382 | PEX26 | c.224C>A (p.Ala75Glu)
| dbSNP gnomAD v3 gnomAD v4 |
22 | g.18078600C= | CA2395402857 | PEX26 | c.224C= (p.Ala75=)
| |
22 | g.18078600C>G | CA410265380 | PEX26 | c.224C>G (p.Ala75Gly)
| ClinVar |
22 | g.18078600C>T | CA410265381 | PEX26 | c.224C>T (p.Ala75Val)
| ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
22 | g.18078601G>A | CA513184648 | PEX26 | c.225G>A (p.Ala75=)
| gnomAD v4 |
22 | g.18078601G>C | CA513184649 | PEX26 | c.225G>C (p.Ala75=)
| |
22 | g.18078601G>T | CA513184650 | PEX26 | c.225G>T (p.Ala75=)
| ClinVar gnomAD v4 |
22 | g.18078602G>A | CA410265385 | PEX26 | c.226G>A (p.Gly76Ser)
| gnomAD v4 |
22 | g.18078602G>C | CA410265387 | PEX26 | c.226G>C (p.Gly76Arg)
| |
22 | g.18078602G>T | CA410265389 | PEX26 | c.226G>T (p.Gly76Cys)
| gnomAD v4 |
22 | g.18078603G>A | CA10093250 | PEX26 | c.227G>A (p.Gly76Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.18078603G>C | CA410265391 | PEX26 | c.227G>C (p.Gly76Ala)
| |
22 | g.18078603G= | CA2395402858 | PEX26 | c.227G= (p.Gly76=)
| |
22 | g.18078603G>T | CA410265392 | PEX26 | c.227G>T (p.Gly76Val)
| ClinVar gnomAD v4 |
22 | g.18078604C>A | CA513184655 | PEX26 | c.228C>A (p.Gly76=)
| gnomAD v4 |
22 | g.18078604C= | CA2395402859 | PEX26 | c.228C= (p.Gly76=)
| |
22 | g.18078604C>G | CA513184654 | PEX26 | c.228C>G (p.Gly76=)
| gnomAD v4 |
22 | g.18078604C>T | CA236171 | PEX26 | c.228C>T (p.Gly76=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.18078605A= | CA2395402860 | PEX26 | c.229A= (p.Thr77=)
| |
22 | g.18078605A>C | CA410265397 | PEX26 | c.229A>C (p.Thr77Pro)
| dbSNP |
22 | g.18078605A>G | CA410265399 | PEX26 | c.229A>G (p.Thr77Ala)
| |
22 | g.18078605A>T | CA410265401 | PEX26 | c.229A>T (p.Thr77Ser)
| |
22 | g.18078606C>A | CA410265404 | PEX26 | c.230C>A (p.Thr77Asn)
| |
22 | g.18078606C>G | CA410265406 | PEX26 | c.230C>G (p.Thr77Ser)
| |
22 | g.18078606C>T | CA410265407 | PEX26 | c.230C>T (p.Thr77Ile)
| |
22 | g.18078607G>A | CA410265410 | PEX26 | c.230+1G>A (n.230+1G>A)
| ClinVar gnomAD v4 |
22 | g.18078607G>C | CA410265414 | PEX26 | c.230+1G>C (n.230+1G>C)
| dbSNP gnomAD v4 COSMIC |
22 | g.18078607G= | CA2395402861 | PEX26 | c.230+1G= (n.230+1G=)
| |
22 | g.18078607G>T | CA115377 | PEX26 | c.230+1G>T (n.230+1G>T)
| ClinVar dbSNP gnomAD v4 |
22 | g.18078608T>A | CA410265417 | PEX26 | c.230+2T>A (n.230+2T>A)
| |
22 | g.18078608T>C | CA410265419 | PEX26 | c.230+2T>C (n.230+2T>C)
| gnomAD v4 |
22 | g.18078608T>G | CA410265421 | PEX26 | c.230+2T>G (n.230+2T>G)
| |
22 | g.18078609A= | CA2395402862 | PEX26 | c.230+3A= (n.230+3A=)
| |
22 | g.18078609A>C | CA513184658 | PEX26 | c.230+3A>C (n.230+3A>C)
| |
22 | g.18078609A>G | CA10093251 | PEX26 | c.230+3A>G (n.230+3A>G)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078609A>T | CA513184659 | PEX26 | c.230+3A>T (n.230+3A>T)
| |
22 | g.18078611_18078631del | CA2577641363 | PEX26 | c.230+5_230+25del (n.230+5_230+25del)
| |
22 | g.18078610C>A | CA513184661 | PEX26 | c.230+4C>A (n.230+4C>A)
| gnomAD v4 |
22 | g.18078610C= | CA2395402863 | PEX26 | c.230+4C= (n.230+4C=)
| |
22 | g.18078610C>G | CA513184663 | PEX26 | c.230+4C>G (n.230+4C>G)
| dbSNP gnomAD v4 |
22 | g.18078610C>T | CA513184662 | PEX26 | c.230+4C>T (n.230+4C>T)
| gnomAD v4 |
22 | g.18078611G>A | CA513184664 | PEX26 | c.230+5G>A (n.230+5G>A)
| gnomAD v4 |
22 | g.18078611G>C | CA513184665 | PEX26 | c.230+5G>C (n.230+5G>C)
| |
22 | g.18078611G>T | CA513184666 | PEX26 | c.230+5G>T (n.230+5G>T)
| gnomAD v4 |
22 | g.18078612T>A | CA513184667 | PEX26 | c.230+6T>A (n.230+6T>A)
| ClinVar dbSNP |
22 | g.18078612T>C | CA513184668 | PEX26 | c.230+6T>C (n.230+6T>C)
| |
22 | g.18078612T>G | CA513184669 | PEX26 | c.230+6T>G (n.230+6T>G)
| |
22 | g.18078613G>A | CA513184670 | PEX26 | c.230+7G>A (n.230+7G>A)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.18078613G>C | CA513184671 | PEX26 | c.230+7G>C (n.230+7G>C)
| |
22 | g.18078613G= | CA2395402864 | PEX26 | c.230+7G= (n.230+7G=)
| |
22 | g.18078613G>T | CA513184673 | PEX26 | c.230+7G>T (n.230+7G>T)
| gnomAD v4 |
22 | g.18078614C>A | CA513184675 | PEX26 | c.230+8C>A (n.230+8C>A)
| gnomAD v4 |
22 | g.18078614C= | CA2395402865 | PEX26 | c.230+8C= (n.230+8C=)
| |
22 | g.18078614C>G | CA513184676 | PEX26 | c.230+8C>G (n.230+8C>G)
| |
22 | g.18078614C>T | CA10645084 | PEX26 | c.230+8C>T (n.230+8C>T)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.18078615T>A | CA513184678 | PEX26 | c.230+9T>A (n.230+9T>A)
| |
22 | g.18078615T>C | CA513184680 | PEX26 | c.230+9T>C (n.230+9T>C)
| |
22 | g.18078615T>G | CA513184679 | PEX26 | c.230+9T>G (n.230+9T>G)
| |
22 | g.18078616G>A | CA321284617 | PEX26 | c.230+10G>A (n.230+10G>A)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078616G>C | CA513184681 | PEX26 | c.230+10G>C (n.230+10G>C)
| |
22 | g.18078616G= | CA2395402866 | PEX26 | c.230+10G= (n.230+10G=)
| |
22 | g.18078616G>T | CA513184682 | PEX26 | c.230+10G>T (n.230+10G>T)
| gnomAD v4 |
22 | g.18078617G>A | CA513184683 | PEX26 | c.230+11G>A (n.230+11G>A)
| gnomAD v4 |
22 | g.18078617G>C | CA513184684 | PEX26 | c.230+11G>C (n.230+11G>C)
| gnomAD v4 |
22 | g.18078617G= | CA2395402867 | PEX26 | c.230+11G= (n.230+11G=)
| |
22 | g.18078617G>T | CA513184685 | PEX26 | c.230+11G>T (n.230+11G>T)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.18078618G>A | CA513184686 | PEX26 | c.230+12G>A (n.230+12G>A)
| dbSNP gnomAD v4 |
22 | g.18078618G>C | CA513184687 | PEX26 | c.230+12G>C (n.230+12G>C)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078618G= | CA2395402868 | PEX26 | c.230+12G= (n.230+12G=)
| |
22 | g.18078618G>T | CA513184688 | PEX26 | c.230+12G>T (n.230+12G>T)
| gnomAD v4 |
22 | g.18078619C>A | CA513184691 | PEX26 | c.230+13C>A (n.230+13C>A)
| gnomAD v4 |
22 | g.18078619C>G | CA513184690 | PEX26 | c.230+13C>G (n.230+13C>G)
| |
22 | g.18078619C>T | CA513184689 | PEX26 | c.230+13C>T (n.230+13C>T)
| dbSNP gnomAD v4 |
22 | g.18078620T>A | CA513184692 | PEX26 | c.230+14T>A (n.230+14T>A)
| |
22 | g.18078620T>C | CA513184693 | PEX26 | c.230+14T>C (n.230+14T>C)
| |
22 | g.18078620T>G | CA513184694 | PEX26 | c.230+14T>G (n.230+14T>G)
| |
22 | g.18078621C>A | CA513184695 | PEX26 | c.230+15C>A (n.230+15C>A)
| gnomAD v4 |
22 | g.18078621C>G | CA513184696 | PEX26 | c.230+15C>G (n.230+15C>G)
| |
22 | g.18078621C>T | CA513184697 | PEX26 | c.230+15C>T (n.230+15C>T)
| ClinVar dbSNP gnomAD v4 |
22 | g.18078622G>A | CA513184699 | PEX26 | c.230+16G>A (n.230+16G>A)
| ClinVar gnomAD v4 |
22 | g.18078622G>C | CA513184701 | PEX26 | c.230+16G>C (n.230+16G>C)
| |
22 | g.18078622G>T | CA513184702 | PEX26 | c.230+16G>T (n.230+16G>T)
| gnomAD v4 |
22 | g.18078623G>A | CA513184703 | PEX26 | c.230+17G>A (n.230+17G>A)
| gnomAD v4 |
22 | g.18078623G>C | CA513184704 | PEX26 | c.230+17G>C (n.230+17G>C)
| |
22 | g.18078623G>T | CA513184705 | PEX26 | c.230+17G>T (n.230+17G>T)
| gnomAD v4 |
22 | g.18078624A>C | CA513184708 | PEX26 | c.230+18A>C (n.230+18A>C)
| gnomAD v4 |
22 | g.18078624A>G | CA513184706 | PEX26 | c.230+18A>G (n.230+18A>G)
| |
22 | g.18078624A>T | CA513184707 | PEX26 | c.230+18A>T (n.230+18A>T)
| |
22 | g.18078625A>C | CA513184710 | PEX26 | c.230+19A>C (n.230+19A>C)
| |
22 | g.18078625A>G | CA513184712 | PEX26 | c.230+19A>G (n.230+19A>G)
| |
22 | g.18078625A>T | CA513184714 | PEX26 | c.230+19A>T (n.230+19A>T)
| |
22 | g.18078626A= | CA2395402869 | PEX26 | c.230+20A= (n.230+20A=)
| |
22 | g.18078626A>C | CA513184715 | PEX26 | c.230+20A>C (n.230+20A>C)
| |
22 | g.18078626A>G | CA10093252 | PEX26 | c.230+20A>G (n.230+20A>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.18078626A>T | CA513184716 | PEX26 | c.230+20A>T (n.230+20A>T)
| |
22 | g.18078627T>A | CA513184717 | PEX26 | c.230+21T>A (n.230+21T>A)
| |
22 | g.18078627T>C | CA513184718 | PEX26 | c.230+21T>C (n.230+21T>C)
| |
22 | g.18078627T>G | CA513184719 | PEX26 | c.230+21T>G (n.230+21T>G)
| |
22 | g.18078628G>A | CA513184721 | PEX26 | c.230+22G>A (n.230+22G>A)
| gnomAD v4 |
22 | g.18078628G>C | CA513184723 | PEX26 | c.230+22G>C (n.230+22G>C)
| |
22 | g.18078628G>T | CA513184724 | PEX26 | c.230+22G>T (n.230+22G>T)
| gnomAD v4 |
22 | g.18078629A>C | CA513184726 | PEX26 | c.230+23A>C (n.230+23A>C)
| |
22 | g.18078629A>G | CA513184727 | PEX26 | c.230+23A>G (n.230+23A>G)
| gnomAD v4 |
22 | g.18078629A>T | CA513184725 | PEX26 | c.230+23A>T (n.230+23A>T)
| |
22 | g.18078630A>C | CA513184729 | PEX26 | c.230+24A>C (n.230+24A>C)
| |
22 | g.18078630A>G | CA513184728 | PEX26 | c.230+24A>G (n.230+24A>G)
| gnomAD v4 |
22 | g.18078630A>T | CA513184730 | PEX26 | c.230+24A>T (n.230+24A>T)
| |
22 | g.18078630_18078631delinsAC | CA2395402870 | PEX26 | c.230+24_230+25delinsAC (n.230+24_230+25delinsAC)
| |
22 | g.18078631C>A | CA513184731 | PEX26 | c.230+25C>A (n.230+25C>A)
| gnomAD v4 |
22 | g.18078631C>G | CA513184732 | PEX26 | c.230+25C>G (n.230+25C>G)
| |
22 | g.18078631C>T | CA513184733 | PEX26 | c.230+25C>T (n.230+25C>T)
| gnomAD v4 |
22 | g.18078632del | CA2395402871 | PEX26 | c.230+26del (n.230+26del)
| dbSNP gnomAD v3 gnomAD v4 |
22 | g.18078632C>A | CA513184734 | PEX26 | c.230+26C>A (n.230+26C>A)
| gnomAD v4 |
22 | g.18078632C>G | CA513184736 | PEX26 | c.230+26C>G (n.230+26C>G)
| gnomAD v4 |
22 | g.18078632C>T | CA513184737 | PEX26 | c.230+26C>T (n.230+26C>T)
| gnomAD v4 |
22 | g.18078633G>A | CA513184738 | PEX26 | c.230+27G>A (n.230+27G>A)
| gnomAD v4 |
22 | g.18078633G>C | CA513184739 | PEX26 | c.230+27G>C (n.230+27G>C)
| |
22 | g.18078633G>T | CA513184740 | PEX26 | c.230+27G>T (n.230+27G>T)
| gnomAD v4 |
22 | g.18078634A= | CA2395402872 | PEX26 | c.230+28A= (n.230+28A=)
| |
22 | g.18078634A>C | CA321284619 | PEX26 | c.230+28A>C (n.230+28A>C)
| dbSNP |
22 | g.18078634A>G | CA10093253 | PEX26 | c.230+28A>G (n.230+28A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078634A>T | CA513184742 | PEX26 | c.230+28A>T (n.230+28A>T)
| |
22 | g.18078635T>A | CA513184746 | PEX26 | c.230+29T>A (n.230+29T>A)
| |
22 | g.18078635T>C | CA513184745 | PEX26 | c.230+29T>C (n.230+29T>C)
| gnomAD v4 |
22 | g.18078635T>G | CA513184744 | PEX26 | c.230+29T>G (n.230+29T>G)
| |
22 | g.18078637del | CA2655184402 | PEX26 | c.230+31del (n.230+31del)
| gnomAD v4 |
22 | g.18078636T>A | CA513184747 | PEX26 | c.230+30T>A (n.230+30T>A)
| |
22 | g.18078636T>C | CA513184748 | PEX26 | c.230+30T>C (n.230+30T>C)
| dbSNP |
22 | g.18078636T>G | CA513184749 | PEX26 | c.230+30T>G (n.230+30T>G)
| |
22 | g.18078636T= | CA2395402873 | PEX26 | c.230+30T= (n.230+30T=)
| |
22 | g.18078637T>A | CA513184750 | PEX26 | c.230+31T>A (n.230+31T>A)
| |
22 | g.18078637T>C | CA513184751 | PEX26 | c.230+31T>C (n.230+31T>C)
| |
22 | g.18078637T>G | CA513184752 | PEX26 | c.230+31T>G (n.230+31T>G)
| |
22 | g.18078638C>A | CA513184753 | PEX26 | c.230+32C>A (n.230+32C>A)
| gnomAD v4 |
22 | g.18078638C>G | CA513184755 | PEX26 | c.230+32C>G (n.230+32C>G)
| |
22 | g.18078638C>T | CA513184757 | PEX26 | c.230+32C>T (n.230+32C>T)
| gnomAD v4 |
22 | g.18078639C>A | CA513184758 | PEX26 | c.230+33C>A (n.230+33C>A)
| gnomAD v4 |
22 | g.18078639C= | CA2395402874 | PEX26 | c.230+33C= (n.230+33C=)
| |
22 | g.18078639C>G | CA513184759 | PEX26 | c.230+33C>G (n.230+33C>G)
| |
22 | g.18078639C>T | CA513184760 | PEX26 | c.230+33C>T (n.230+33C>T)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.18078640G>A | CA513184763 | PEX26 | c.230+34G>A (n.230+34G>A)
| dbSNP gnomAD v3 gnomAD v4 |
22 | g.18078640G>C | CA513184762 | PEX26 | c.230+34G>C (n.230+34G>C)
| |
22 | g.18078640G= | CA2395402875 | PEX26 | c.230+34G= (n.230+34G=)
| |
22 | g.18078640G>T | CA513184761 | PEX26 | c.230+34G>T (n.230+34G>T)
| gnomAD v4 |
22 | g.18078641G>A | CA513184764 | PEX26 | c.230+35G>A (n.230+35G>A)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.18078641G>C | CA513184765 | PEX26 | c.230+35G>C (n.230+35G>C)
| |
22 | g.18078641G= | CA2395402876 | PEX26 | c.230+35G= (n.230+35G=)
| |
22 | g.18078641G>T | CA513184767 | PEX26 | c.230+35G>T (n.230+35G>T)
| gnomAD v4 |
22 | g.18078642G>A | CA513184770 | PEX26 | c.230+36G>A (n.230+36G>A)
| gnomAD v4 |
22 | g.18078642G>C | CA513184771 | PEX26 | c.230+36G>C (n.230+36G>C)
| |
22 | g.18078642G= | CA2395402877 | PEX26 | c.230+36G= (n.230+36G=)
| |
22 | g.18078642G>T | CA513184772 | PEX26 | c.230+36G>T (n.230+36G>T)
| dbSNP gnomAD v3 gnomAD v4 |
22 | g.18078643C>A | CA513184773 | PEX26 | c.230+37C>A (n.230+37C>A)
| gnomAD v4 |
22 | g.18078643C= | CA2395402878 | PEX26 | c.230+37C= (n.230+37C=)
| |
22 | g.18078643C>G | CA513184774 | PEX26 | c.230+37C>G (n.230+37C>G)
| |
22 | g.18078643C>T | CA321284635 | PEX26 | c.230+37C>T (n.230+37C>T)
| dbSNP gnomAD v3 gnomAD v4 |
22 | g.18078644G>A | CA513184775 | PEX26 | c.230+38G>A (n.230+38G>A)
| gnomAD v4 |
22 | g.18078644G>C | CA513184776 | PEX26 | c.230+38G>C (n.230+38G>C)
| gnomAD v4 |
22 | g.18078644G>T | CA513184777 | PEX26 | c.230+38G>T (n.230+38G>T)
| gnomAD v4 |
22 | g.18078645C>A | CA513184781 | PEX26 | c.230+39C>A (n.230+39C>A)
| gnomAD v4 |
22 | g.18078645C= | CA2395402879 | PEX26 | c.230+39C= (n.230+39C=)
| |
22 | g.18078645C>G | CA513184780 | PEX26 | c.230+39C>G (n.230+39C>G)
| dbSNP gnomAD v4 |
22 | g.18078645C>T | CA513184778 | PEX26 | c.230+39C>T (n.230+39C>T)
| |