| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.136826424_136826443dup | CA917868902 | PEX7 | c.294_313dup (p.Gln105ProfsTer?) c.169_188dup c.180_199dup (p.Gln67ProfsTer?) c.299_318dup (n.299_318dup) c.174_193dup (p.Gln65ProfsTer?) c.294_313dup (p.Gln105ProfsTer24) c.294_313dup (p.Gln105ProfsTer20) | ClinVar dbSNP |
| 6 | g.136826424del | CA570744627 | PEX7 | c.294del (p.Ala100LeufsTer?) c.169del c.180del (p.Ala62LeufsTer?) c.299del (n.299del) c.174del (p.Ala60LeufsTer?) c.294del (p.Ala100LeufsTer22) c.294del (p.Ala100LeufsTer18) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136826424C>A | CA452376877 | PEX7 | c.294C>A (p.Ala98=) c.169C>A c.180C>A (p.Ala60=) c.299C>A (n.299C>A) c.174C>A (p.Ala58=) | |
| 6 | g.136826424C>G | CA452376890 | PEX7 | c.294C>G (p.Ala98=) c.169C>G c.180C>G (p.Ala60=) c.299C>G (n.299C>G) c.174C>G (p.Ala58=) | |
| 6 | g.136826424C>T | CA452376888 | PEX7 | c.294C>T (p.Ala98=) c.169C>T c.180C>T (p.Ala60=) c.299C>T (n.299C>T) c.174C>T (p.Ala58=) | gnomAD v4 |
| 6 | g.136826425A>C | CA365855946 | PEX7 | c.295A>C (p.Lys99Gln) c.170A>C c.181A>C (p.Lys61Gln) c.300A>C (n.300A>C) c.175A>C (p.Lys59Gln) | |
| 6 | g.136826425A>G | CA365855947 | PEX7 | c.295A>G (p.Lys99Glu) c.170A>G c.181A>G (p.Lys61Glu) c.300A>G (n.300A>G) c.175A>G (p.Lys59Glu) | gnomAD v4 |
| 6 | g.136826425A>T | CA365855948 | PEX7 | c.295A>T (p.Lys99Ter) c.170A>T c.181A>T (p.Lys61Ter) c.300A>T (n.300A>T) c.175A>T (p.Lys59Ter) | |
| 6 | g.136826427del | CA2580075091 | PEX7 | c.297del (p.Ala100LeufsTer?) c.172del c.183del (p.Ala62LeufsTer?) c.302del (n.302del) c.177del (p.Ala60LeufsTer?) c.297del (p.Ala100LeufsTer22) c.297del (p.Ala100LeufsTer18) | ClinVar |
| 6 | g.136826426A>C | CA365855949 | PEX7 | c.296A>C (p.Lys99Thr) c.171A>C c.182A>C (p.Lys61Thr) c.301A>C (n.301A>C) c.176A>C (p.Lys59Thr) | |
| 6 | g.136826426A>G | CA148641173 | PEX7 | c.296A>G (p.Lys99Arg) c.171A>G c.182A>G (p.Lys61Arg) c.301A>G (n.301A>G) c.176A>G (p.Lys59Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136826426A>T | CA365855950 | PEX7 | c.296A>T (p.Lys99Ile) c.171A>T c.182A>T (p.Lys61Ile) c.301A>T (n.301A>T) c.176A>T (p.Lys59Ile) | |
| 6 | g.136826427A>C | CA365855951 | PEX7 | c.297A>C (p.Lys99Asn) c.172A>C c.183A>C (p.Lys61Asn) c.302A>C (n.302A>C) c.177A>C (p.Lys59Asn) | |
| 6 | g.136826427A>G | CA4017546 | PEX7 | c.297A>G (p.Lys99=) c.172A>G c.183A>G (p.Lys61=) c.302A>G (n.302A>G) c.177A>G (p.Lys59=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136826427A>T | CA365855952 | PEX7 | c.297A>T (p.Lys99Asn) c.172A>T c.183A>T (p.Lys61Asn) c.302A>T (n.302A>T) c.177A>T (p.Lys59Asn) | |
| 6 | g.136826428G>A | CA365855954 | PEX7 | c.298G>A (p.Ala100Thr) c.173G>A c.184G>A (p.Ala62Thr) c.303G>A (n.303G>A) c.178G>A (p.Ala60Thr) | |
| 6 | g.136826428G>C | CA365855955 | PEX7 | c.298G>C (p.Ala100Pro) c.173G>C c.184G>C (p.Ala62Pro) c.303G>C (n.303G>C) c.178G>C (p.Ala60Pro) | |
| 6 | g.136826428G>T | CA365855953 | PEX7 | c.298G>T (p.Ala100Ser) c.173G>T c.184G>T (p.Ala62Ser) c.303G>T (n.303G>T) c.178G>T (p.Ala60Ser) | |
| 6 | g.136826429C>A | CA365855956 | PEX7 | c.299C>A (p.Ala100Asp) c.174C>A c.185C>A (p.Ala62Asp) c.304C>A (n.304C>A) c.179C>A (p.Ala60Asp) | |
| 6 | g.136826429C>G | CA365855957 | PEX7 | c.299C>G (p.Ala100Gly) c.174C>G c.185C>G (p.Ala62Gly) c.304C>G (n.304C>G) c.179C>G (p.Ala60Gly) | |
| 6 | g.136826429C>T | CA365855958 | PEX7 | c.299C>T (p.Ala100Val) c.174C>T c.185C>T (p.Ala62Val) c.304C>T (n.304C>T) c.179C>T (p.Ala60Val) | dbSNP |
| 6 | g.136826430T>A | CA452376914 | PEX7 | c.300T>A (p.Ala100=) c.175T>A c.186T>A (p.Ala62=) c.305T>A (n.305T>A) c.180T>A (p.Ala60=) | |
| 6 | g.136826430T>C | CA452376917 | PEX7 | c.300T>C (p.Ala100=) c.175T>C c.186T>C (p.Ala62=) c.305T>C (n.305T>C) c.180T>C (p.Ala60=) | ClinVar dbSNP |
| 6 | g.136826430T>G | CA452376920 | PEX7 | c.300T>G (p.Ala100=) c.175T>G c.186T>G (p.Ala62=) c.305T>G (n.305T>G) c.180T>G (p.Ala60=) | |
| 6 | g.136826431G>A | CA365855959 | PEX7 | c.301G>A (p.Ala101Thr) c.176G>A c.187G>A (p.Ala63Thr) c.306G>A (n.306G>A) c.181G>A (p.Ala61Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.136826431G>C | CA365855960 | PEX7 | c.301G>C (p.Ala101Pro) c.176G>C c.187G>C (p.Ala63Pro) c.306G>C (n.306G>C) c.181G>C (p.Ala61Pro) | |
| 6 | g.136826431G>T | CA365855961 | PEX7 | c.301G>T (p.Ala101Ser) c.176G>T c.187G>T (p.Ala63Ser) c.306G>T (n.306G>T) c.181G>T (p.Ala61Ser) | dbSNP gnomAD v4 COSMIC COSMIC |
| 6 | g.136826432C>A | CA365855962 | PEX7 | c.302C>A (p.Ala101Glu) c.177C>A c.188C>A (p.Ala63Glu) c.307C>A (n.307C>A) c.182C>A (p.Ala61Glu) | |
| 6 | g.136826432C>G | CA365855963 | PEX7 | c.302C>G (p.Ala101Gly) c.177C>G c.188C>G (p.Ala63Gly) c.307C>G (n.307C>G) c.182C>G (p.Ala61Gly) | |
| 6 | g.136826432C>T | CA365855964 | PEX7 | c.302C>T (p.Ala101Val) c.177C>T c.188C>T (p.Ala63Val) c.307C>T (n.307C>T) c.182C>T (p.Ala61Val) | COSMIC COSMIC |
| 6 | g.136826433A>C | CA452376936 | PEX7 | c.303A>C (p.Ala101=) c.178A>C c.189A>C (p.Ala63=) c.308A>C (n.308A>C) c.183A>C (p.Ala61=) | |
| 6 | g.136826433A>G | CA452376937 | PEX7 | c.303A>G (p.Ala101=) c.178A>G c.189A>G (p.Ala63=) c.308A>G (n.308A>G) c.183A>G (p.Ala61=) | |
| 6 | g.136826433A>T | CA452376940 | PEX7 | c.303A>T (p.Ala101=) c.178A>T c.189A>T (p.Ala63=) c.308A>T (n.308A>T) c.183A>T (p.Ala61=) | |
| 6 | g.136826434G>A | CA365855965 | PEX7 | c.304G>A (p.Gly102Arg) c.179G>A c.190G>A (p.Gly64Arg) c.309G>A (n.309G>A) c.184G>A (p.Gly62Arg) | |
| 6 | g.136826434G>C | CA365855966 | PEX7 | c.304G>C (p.Gly102Arg) c.179G>C c.190G>C (p.Gly64Arg) c.309G>C (n.309G>C) c.184G>C (p.Gly62Arg) | |
| 6 | g.136826434G>T | CA365855967 | PEX7 | c.304G>T (p.Gly102Trp) c.179G>T c.190G>T (p.Gly64Trp) c.309G>T (n.309G>T) c.184G>T (p.Gly62Trp) | |
| 6 | g.136826435G>A | CA365855969 | PEX7 | c.305G>A (p.Gly102Glu) c.180G>A c.191G>A (p.Gly64Glu) c.310G>A (n.310G>A) c.185G>A (p.Gly62Glu) | dbSNP |
| 6 | g.136826435G>C | CA365855970 | PEX7 | c.305G>C (p.Gly102Ala) c.180G>C c.191G>C (p.Gly64Ala) c.310G>C (n.310G>C) c.185G>C (p.Gly62Ala) | |
| 6 | g.136826435G>T | CA365855968 | PEX7 | c.305G>T (p.Gly102Val) c.180G>T c.191G>T (p.Gly64Val) c.310G>T (n.310G>T) c.185G>T (p.Gly62Val) | |
| 6 | g.136826436G>A | CA452376943 | PEX7 | c.306G>A (p.Gly102=) c.181G>A c.192G>A (p.Gly64=) c.311G>A (n.311G>A) c.186G>A (p.Gly62=) | |
| 6 | g.136826436G>C | CA452376946 | PEX7 | c.306G>C (p.Gly102=) c.181G>C c.192G>C (p.Gly64=) c.311G>C (n.311G>C) c.186G>C (p.Gly62=) | |
| 6 | g.136826436G>T | CA452376948 | PEX7 | c.306G>T (p.Gly102=) c.181G>T c.192G>T (p.Gly64=) c.311G>T (n.311G>T) c.186G>T (p.Gly62=) | |
| 6 | g.136826437C>A | CA4017547 | PEX7 | c.307C>A (p.Pro103Thr) c.182C>A c.193C>A (p.Pro65Thr) c.312C>A (n.312C>A) c.187C>A (p.Pro63Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136826437C>G | CA365855971 | PEX7 | c.307C>G (p.Pro103Ala) c.182C>G c.193C>G (p.Pro65Ala) c.312C>G (n.312C>G) c.187C>G (p.Pro63Ala) | |
| 6 | g.136826437C>T | CA365855972 | PEX7 | c.307C>T (p.Pro103Ser) c.182C>T c.193C>T (p.Pro65Ser) c.312C>T (n.312C>T) c.187C>T (p.Pro63Ser) | gnomAD v4 |
| 6 | g.136826438C>A | CA365855973 | PEX7 | c.308C>A (p.Pro103Gln) c.183C>A c.194C>A (p.Pro65Gln) c.313C>A (n.313C>A) c.188C>A (p.Pro63Gln) | |
| 6 | g.136826438C>G | CA365855974 | PEX7 | c.308C>G (p.Pro103Arg) c.183C>G c.194C>G (p.Pro65Arg) c.313C>G (n.313C>G) c.188C>G (p.Pro63Arg) | |
| 6 | g.136826438C>T | CA365855975 | PEX7 | c.308C>T (p.Pro103Leu) c.183C>T c.194C>T (p.Pro65Leu) c.313C>T (n.313C>T) c.188C>T (p.Pro63Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.136826439A>C | CA452376962 | PEX7 | c.309A>C (p.Pro103=) c.184A>C c.195A>C (p.Pro65=) c.314A>C (n.314A>C) c.189A>C (p.Pro63=) | |
| 6 | g.136826439A>G | CA452376969 | PEX7 | c.309A>G (p.Pro103=) c.184A>G c.195A>G (p.Pro65=) c.314A>G (n.314A>G) c.189A>G (p.Pro63=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136826439A>T | CA452376960 | PEX7 | c.309A>T (p.Pro103=) c.184A>T c.195A>T (p.Pro65=) c.314A>T (n.314A>T) c.189A>T (p.Pro63=) | |
| 6 | g.136826440C>A | CA365855977 | PEX7 | c.310C>A (p.Leu104Met) c.185C>A c.196C>A (p.Leu66Met) c.315C>A (n.315C>A) c.190C>A (p.Leu64Met) | |
| 6 | g.136826440C>G | CA365855976 | PEX7 | c.310C>G (p.Leu104Val) c.185C>G c.196C>G (p.Leu66Val) c.315C>G (n.315C>G) c.190C>G (p.Leu64Val) | |
| 6 | g.136826440C>T | CA452376972 | PEX7 | c.310C>T (p.Leu104=) c.185C>T c.196C>T (p.Leu66=) c.315C>T (n.315C>T) c.190C>T (p.Leu64=) | ClinVar dbSNP |
| 6 | g.136826441T>A | CA365855978 | PEX7 | c.311T>A (p.Leu104Gln) c.186T>A c.197T>A (p.Leu66Gln) c.316T>A (n.316T>A) c.191T>A (p.Leu64Gln) | |
| 6 | g.136826441T>C | CA365855979 | PEX7 | c.311T>C (p.Leu104Pro) c.186T>C c.197T>C (p.Leu66Pro) c.316T>C (n.316T>C) c.191T>C (p.Leu64Pro) | gnomAD v4 |
| 6 | g.136826441T>G | CA365855980 | PEX7 | c.311T>G (p.Leu104Arg) c.186T>G c.197T>G (p.Leu66Arg) c.316T>G (n.316T>G) c.191T>G (p.Leu64Arg) | |
| 6 | g.136826442G>A | CA452376976 | PEX7 | c.312G>A (p.Leu104=) c.187G>A c.198G>A (p.Leu66=) c.317G>A (n.317G>A) c.192G>A (p.Leu64=) | |
| 6 | g.136826442G>C | CA452376980 | PEX7 | c.312G>C (p.Leu104=) c.187G>C c.198G>C (p.Leu66=) c.317G>C (n.317G>C) c.192G>C (p.Leu64=) | gnomAD v4 |
| 6 | g.136826442G>T | CA452376979 | PEX7 | c.312G>T (p.Leu104=) c.187G>T c.198G>T (p.Leu66=) c.317G>T (n.317G>T) c.192G>T (p.Leu64=) | |
| 6 | g.136826443C>A | CA4017548 | PEX7 | c.313C>A (p.Gln105Lys) c.188C>A c.199C>A (p.Gln67Lys) c.318C>A (n.318C>A) c.193C>A (p.Gln65Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136826443C>G | CA365855981 | PEX7 | c.313C>G (p.Gln105Glu) c.188C>G c.199C>G (p.Gln67Glu) c.318C>G (n.318C>G) c.193C>G (p.Gln65Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.136826443C>T | CA365855982 | PEX7 | c.313C>T (p.Gln105Ter) c.188C>T c.199C>T (p.Gln67Ter) c.318C>T (n.318C>T) c.193C>T (p.Gln65Ter) | dbSNP |
| 6 | g.136826444A>C | CA365855985 | PEX7 | c.314A>C (p.Gln105Pro) c.189A>C c.200A>C (p.Gln67Pro) c.319A>C (n.319A>C) c.194A>C (p.Gln65Pro) | |
| 6 | g.136826444A>G | CA365855984 | PEX7 | c.314A>G (p.Gln105Arg) c.189A>G c.200A>G (p.Gln67Arg) c.319A>G (n.319A>G) c.194A>G (p.Gln65Arg) | gnomAD v4 |
| 6 | g.136826444A>T | CA365855983 | PEX7 | c.314A>T (p.Gln105Leu) c.189A>T c.200A>T (p.Gln67Leu) c.319A>T (n.319A>T) c.194A>T (p.Gln65Leu) | |
| 6 | g.136826445A>C | CA365855986 | PEX7 | c.315A>C (p.Gln105His) c.190A>C c.201A>C (p.Gln67His) c.320A>C (n.320A>C) c.195A>C (p.Gln65His) | |
| 6 | g.136826445A>G | CA452376987 | PEX7 | c.315A>G (p.Gln105=) c.190A>G c.201A>G (p.Gln67=) c.320A>G (n.320A>G) c.195A>G (p.Gln65=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136826445A>T | CA4017549 | PEX7 | c.315A>T (p.Gln105His) c.190A>T c.201A>T (p.Gln67His) c.320A>T (n.320A>T) c.195A>T (p.Gln65His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136826446G>A | CA365855987 | PEX7 | c.316G>A (p.Val106Ile) c.191G>A c.202G>A (p.Val68Ile) c.321G>A (n.321G>A) c.196G>A (p.Val66Ile) | |
| 6 | g.136826446G>C | CA10626099 | PEX7 | c.316G>C (p.Val106Leu) c.191G>C c.202G>C (p.Val68Leu) c.321G>C (n.321G>C) c.196G>C (p.Val66Leu) | ClinVar dbSNP gnomAD v4 |
| 6 | g.136826446G>T | CA365855988 | PEX7 | c.316G>T (p.Val106Phe) c.191G>T c.202G>T (p.Val68Phe) c.321G>T (n.321G>T) c.196G>T (p.Val66Phe) | |
| 6 | g.136826447T>A | CA365855989 | PEX7 | c.317T>A (p.Val106Asp) c.192T>A c.203T>A (p.Val68Asp) c.322T>A (n.322T>A) c.197T>A (p.Val66Asp) | |
| 6 | g.136826447T>C | CA365855990 | PEX7 | c.317T>C (p.Val106Ala) c.192T>C c.203T>C (p.Val68Ala) c.322T>C (n.322T>C) c.197T>C (p.Val66Ala) | |
| 6 | g.136826447T>G | CA365855991 | PEX7 | c.317T>G (p.Val106Gly) c.192T>G c.203T>G (p.Val68Gly) c.322T>G (n.322T>G) c.197T>G (p.Val66Gly) | |
| 6 | g.136826448C>A | CA452377004 | PEX7 | c.318C>A (p.Val106=) c.193C>A c.204C>A (p.Val68=) c.323C>A (n.323C>A) c.198C>A (p.Val66=) | |
| 6 | g.136826448C>G | CA452377006 | PEX7 | c.318C>G (p.Val106=) c.193C>G c.204C>G (p.Val68=) c.323C>G (n.323C>G) c.198C>G (p.Val66=) | |
| 6 | g.136826448C>T | CA452377009 | PEX7 | c.318C>T (p.Val106=) c.193C>T c.204C>T (p.Val68=) c.323C>T (n.323C>T) c.198C>T (p.Val66=) | |
| 6 | g.136826449T>A | CA365855994 | PEX7 | c.319T>A (p.Tyr107Asn) c.194T>A c.205T>A (p.Tyr69Asn) c.324T>A (n.324T>A) c.199T>A (p.Tyr67Asn) | ClinVar |
| 6 | g.136826449T>C | CA365855992 | PEX7 | c.319T>C (p.Tyr107His) c.194T>C c.205T>C (p.Tyr69His) c.324T>C (n.324T>C) c.199T>C (p.Tyr67His) | gnomAD v4 |
| 6 | g.136826449T>G | CA365855993 | PEX7 | c.319T>G (p.Tyr107Asp) c.194T>G c.205T>G (p.Tyr69Asp) c.324T>G (n.324T>G) c.199T>G (p.Tyr67Asp) | |
| 6 | g.136826451_136826452del | CA2695207125 | PEX7 | c.321_322del (p.Tyr107Ter) c.196_197del c.207_208del (p.Tyr69Ter) c.326_327del (n.326_327del) c.201_202del (p.Tyr67Ter) | |
| 6 | g.136826450A>C | CA365855995 | PEX7 | c.320A>C (p.Tyr107Ser) c.195A>C c.206A>C (p.Tyr69Ser) c.325A>C (n.325A>C) c.200A>C (p.Tyr67Ser) | |
| 6 | g.136826450A>G | CA4017550 | PEX7 | c.320A>G (p.Tyr107Cys) c.195A>G c.206A>G (p.Tyr69Cys) c.325A>G (n.325A>G) c.200A>G (p.Tyr67Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136826450A>T | CA365855996 | PEX7 | c.320A>T (p.Tyr107Phe) c.195A>T c.206A>T (p.Tyr69Phe) c.325A>T (n.325A>T) c.200A>T (p.Tyr67Phe) | |
| 6 | g.136826451T>A | CA365855997 | PEX7 | c.321T>A (p.Tyr107Ter) c.196T>A c.207T>A (p.Tyr69Ter) c.326T>A (n.326T>A) c.201T>A (p.Tyr67Ter) | |
| 6 | g.136826451T>C | CA452377026 | PEX7 | c.321T>C (p.Tyr107=) c.196T>C c.207T>C (p.Tyr69=) c.326T>C (n.326T>C) c.201T>C (p.Tyr67=) | |
| 6 | g.136826451T>G | CA365855998 | PEX7 | c.321T>G (p.Tyr107Ter) c.196T>G c.207T>G (p.Tyr69Ter) c.326T>G (n.326T>G) c.201T>G (p.Tyr67Ter) | |
| 6 | g.136826452A>C | CA365855999 | PEX7 | c.322A>C (p.Lys108Gln) c.197A>C c.208A>C (p.Lys70Gln) c.327A>C (n.327A>C) c.202A>C (p.Lys68Gln) | |
| 6 | g.136826452A>G | CA148641174 | PEX7 | c.322A>G (p.Lys108Glu) c.197A>G c.208A>G (p.Lys70Glu) c.327A>G (n.327A>G) c.202A>G (p.Lys68Glu) | ClinVar dbSNP gnomAD v4 |
| 6 | g.136826452A>T | CA365856000 | PEX7 | c.322A>T (p.Lys108Ter) c.197A>T c.208A>T (p.Lys70Ter) c.327A>T (n.327A>T) c.202A>T (p.Lys68Ter) | |
| 6 | g.136826453_136826454del | CA2580075094 | PEX7 | c.323_324del (p.Lys108ArgfsTer8) c.198_199del c.209_210del (p.Lys70ArgfsTer8) c.328_329del (n.328_329del) c.203_204del (p.Lys68ArgfsTer8) c.323_324del (p.Lys108ArgfsTer?) c.323_324del (p.Lys108ArgfsTer14) | ClinVar |
| 6 | g.136826461_136826703del | CA2773213201 | PEX7 | c.331_339+234del c.206_214+234del c.217_225+234del c.336_344+234del c.211_219+234del | |
| 6 | g.136826453A>C | CA365856001 | PEX7 | c.323A>C (p.Lys108Thr) c.198A>C c.209A>C (p.Lys70Thr) c.328A>C (n.328A>C) c.203A>C (p.Lys68Thr) | |
| 6 | g.136826453A>G | CA365856002 | PEX7 | c.323A>G (p.Lys108Arg) c.198A>G c.209A>G (p.Lys70Arg) c.328A>G (n.328A>G) c.203A>G (p.Lys68Arg) | |
| 6 | g.136826453A>T | CA365856003 | PEX7 | c.323A>T (p.Lys108Ile) c.198A>T c.209A>T (p.Lys70Ile) c.328A>T (n.328A>T) c.203A>T (p.Lys68Ile) | |
| 6 | g.136826454A>C | CA365856004 | PEX7 | c.324A>C (p.Lys108Asn) c.199A>C c.210A>C (p.Lys70Asn) c.329A>C (n.329A>C) c.204A>C (p.Lys68Asn) | gnomAD v4 |
| 6 | g.136826454A>G | CA452377043 | PEX7 | c.324A>G (p.Lys108=) c.199A>G c.210A>G (p.Lys70=) c.329A>G (n.329A>G) c.204A>G (p.Lys68=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.136826454A>T | CA365856005 | PEX7 | c.324A>T (p.Lys108Asn) c.199A>T c.210A>T (p.Lys70Asn) c.329A>T (n.329A>T) c.204A>T (p.Lys68Asn) | |
| 6 | g.136826455G>A | CA365856006 | PEX7 | c.325G>A (p.Glu109Lys) c.200G>A c.211G>A (p.Glu71Lys) c.330G>A (n.330G>A) c.205G>A (p.Glu69Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.136826455G>C | CA365856007 | PEX7 | c.325G>C (p.Glu109Gln) c.200G>C c.211G>C (p.Glu71Gln) c.330G>C (n.330G>C) c.205G>C (p.Glu69Gln) | |
| 6 | g.136826455G>T | CA365856008 | PEX7 | c.325G>T (p.Glu109Ter) c.200G>T c.211G>T (p.Glu71Ter) c.330G>T (n.330G>T) c.205G>T (p.Glu69Ter) | |
| 6 | g.136826456A>C | CA365856009 | PEX7 | c.326A>C (p.Glu109Ala) c.201A>C c.212A>C (p.Glu71Ala) c.331A>C (n.331A>C) c.206A>C (p.Glu69Ala) | |
| 6 | g.136826456A>G | CA365856010 | PEX7 | c.326A>G (p.Glu109Gly) c.201A>G c.212A>G (p.Glu71Gly) c.331A>G (n.331A>G) c.206A>G (p.Glu69Gly) | |
| 6 | g.136826456A>T | CA365856011 | PEX7 | c.326A>T (p.Glu109Val) c.201A>T c.212A>T (p.Glu71Val) c.331A>T (n.331A>T) c.206A>T (p.Glu69Val) | |
| 6 | g.136826457A>C | CA365856012 | PEX7 | c.327A>C (p.Glu109Asp) c.202A>C c.213A>C (p.Glu71Asp) c.332A>C (n.332A>C) c.207A>C (p.Glu69Asp) | |
| 6 | g.136826457A>G | CA452377059 | PEX7 | c.327A>G (p.Glu109=) c.202A>G c.213A>G (p.Glu71=) c.332A>G (n.332A>G) c.207A>G (p.Glu69=) | ClinVar gnomAD v4 |
| 6 | g.136826457A>T | CA365856013 | PEX7 | c.327A>T (p.Glu109Asp) c.202A>T c.213A>T (p.Glu71Asp) c.332A>T (n.332A>T) c.207A>T (p.Glu69Asp) | gnomAD v4 |
| 6 | g.136826458C>A | CA365856014 | PEX7 | c.328C>A (p.His110Asn) c.203C>A c.214C>A (p.His72Asn) c.333C>A (n.333C>A) c.208C>A (p.His70Asn) | |
| 6 | g.136826458C>G | CA365856015 | PEX7 | c.328C>G (p.His110Asp) c.203C>G c.214C>G (p.His72Asp) c.333C>G (n.333C>G) c.208C>G (p.His70Asp) | |
| 6 | g.136826458C>T | CA365856016 | PEX7 | c.328C>T (p.His110Tyr) c.203C>T c.214C>T (p.His72Tyr) c.333C>T (n.333C>T) c.208C>T (p.His70Tyr) | gnomAD v4 |
| 6 | g.136826459A>C | CA365856017 | PEX7 | c.329A>C (p.His110Pro) c.204A>C c.215A>C (p.His72Pro) c.334A>C (n.334A>C) c.209A>C (p.His70Pro) | |
| 6 | g.136826459A>G | CA148641175 | PEX7 | c.329A>G (p.His110Arg) c.204A>G c.215A>G (p.His72Arg) c.334A>G (n.334A>G) c.209A>G (p.His70Arg) | dbSNP |
| 6 | g.136826459A>T | CA365856018 | PEX7 | c.329A>T (p.His110Leu) c.204A>T c.215A>T (p.His72Leu) c.334A>T (n.334A>T) c.209A>T (p.His70Leu) | |
| 6 | g.136826460C>A | CA365856019 | PEX7 | c.330C>A (p.His110Gln) c.205C>A c.216C>A (p.His72Gln) c.335C>A (n.335C>A) c.210C>A (p.His70Gln) | dbSNP gnomAD v2 |
| 6 | g.136826460C>G | CA4017552 | PEX7 | c.330C>G (p.His110Gln) c.205C>G c.216C>G (p.His72Gln) c.335C>G (n.335C>G) c.210C>G (p.His70Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136826460C>T | CA4017551 | PEX7 | c.330C>T (p.His110=) c.205C>T c.216C>T (p.His72=) c.335C>T (n.335C>T) c.210C>T (p.His70=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136826461G>A | CA4017554 | PEX7 | c.331G>A (p.Ala111Thr) c.206G>A c.217G>A (p.Ala73Thr) c.336G>A (n.336G>A) c.211G>A (p.Ala71Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136826461G>C | CA365856020 | PEX7 | c.331G>C (p.Ala111Pro) c.206G>C c.217G>C (p.Ala73Pro) c.336G>C (n.336G>C) c.211G>C (p.Ala71Pro) | |
| 6 | g.136826461G>T | CA4017553 | PEX7 | c.331G>T (p.Ala111Ser) c.206G>T c.217G>T (p.Ala73Ser) c.336G>T (n.336G>T) c.211G>T (p.Ala71Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136826461_136826462insTTG | CA2680488226 | PEX7 | c.331_332insTTG (p.His110_Ala111insVal) c.206_207insTTG c.217_218insTTG (p.His72_Ala73insVal) c.336_337insTTG (n.336_337insTTG) c.211_212insTTG (p.His70_Ala71insVal) | gnomAD v4 |
| 6 | g.136826462C>A | CA365856022 | PEX7 | c.332C>A (p.Ala111Asp) c.207C>A c.218C>A (p.Ala73Asp) c.337C>A (n.337C>A) c.212C>A (p.Ala71Asp) | |
| 6 | g.136826462C>G | CA365856023 | PEX7 | c.332C>G (p.Ala111Gly) c.207C>G c.218C>G (p.Ala73Gly) c.337C>G (n.337C>G) c.212C>G (p.Ala71Gly) | |
| 6 | g.136826462C>T | CA365856021 | PEX7 | c.332C>T (p.Ala111Val) c.207C>T c.218C>T (p.Ala73Val) c.337C>T (n.337C>T) c.212C>T (p.Ala71Val) | |
| 6 | g.136826463_136826464del | CA2773213216 | PEX7 | c.333_334del (p.Gln112GlyfsTer4) c.208_209del c.219_220del (p.Gln74GlyfsTer4) c.338_339del (n.338_339del) c.213_214del (p.Gln72GlyfsTer4) c.333_334del (p.Gln112GlyfsTer?) c.333_334del (p.Gln112GlyfsTer10) | |
| 6 | g.136826463T>A | CA452377087 | PEX7 | c.333T>A (p.Ala111=) c.208T>A c.219T>A (p.Ala73=) c.338T>A (n.338T>A) c.213T>A (p.Ala71=) | |
| 6 | g.136826463T>C | CA452377088 | PEX7 | c.333T>C (p.Ala111=) c.208T>C c.219T>C (p.Ala73=) c.338T>C (n.338T>C) c.213T>C (p.Ala71=) | |
| 6 | g.136826463T>G | CA452377090 | PEX7 | c.333T>G (p.Ala111=) c.208T>G c.219T>G (p.Ala73=) c.338T>G (n.338T>G) c.213T>G (p.Ala71=) | |
| 6 | g.136826464C>A | CA365856024 | PEX7 | c.334C>A (p.Gln112Lys) c.209C>A c.220C>A (p.Gln74Lys) c.339C>A (n.339C>A) c.214C>A (p.Gln72Lys) | |
| 6 | g.136826464C>G | CA365856025 | PEX7 | c.334C>G (p.Gln112Glu) c.209C>G c.220C>G (p.Gln74Glu) c.339C>G (n.339C>G) c.214C>G (p.Gln72Glu) | |
| 6 | g.136826464C>T | CA16041012 | PEX7 | c.334C>T (p.Gln112Ter) c.209C>T c.220C>T (p.Gln74Ter) c.339C>T (n.339C>T) c.214C>T (p.Gln72Ter) | ClinVar dbSNP |
| 6 | g.136826465A>C | CA365856026 | PEX7 | c.335A>C (p.Gln112Pro) c.210A>C c.221A>C (p.Gln74Pro) c.340A>C (n.340A>C) c.215A>C (p.Gln72Pro) | dbSNP |
| 6 | g.136826465A>G | CA4017555 | PEX7 | c.335A>G (p.Gln112Arg) c.210A>G c.221A>G (p.Gln74Arg) c.340A>G (n.340A>G) c.215A>G (p.Gln72Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136826465A>T | CA365856027 | PEX7 | c.335A>T (p.Gln112Leu) c.210A>T c.221A>T (p.Gln74Leu) c.340A>T (n.340A>T) c.215A>T (p.Gln72Leu) | |
| 6 | g.136826466G>A | CA452377100 | PEX7 | c.336G>A (p.Gln112=) c.211G>A c.222G>A (p.Gln74=) c.341G>A (n.341G>A) c.216G>A (p.Gln72=) | ClinVar |
| 6 | g.136826466G>C | CA365856028 | PEX7 | c.336G>C (p.Gln112His) c.211G>C c.222G>C (p.Gln74His) c.341G>C (n.341G>C) c.216G>C (p.Gln72His) | |
| 6 | g.136826466G>T | CA365856029 | PEX7 | c.336G>T (p.Gln112His) c.211G>T c.222G>T (p.Gln74His) c.341G>T (n.341G>T) c.216G>T (p.Gln72His) | |
| 6 | g.136826466_136826467insTG | CA2773213217 | PEX7 | c.336_337insTG (p.Glu113TrpfsTer?) c.211_212insTG c.222_223insTG (p.Glu75TrpfsTer?) c.341_342insTG (n.341_342insTG) c.216_217insTG (p.Glu73TrpfsTer?) c.336_337insTG (p.Glu113TrpfsTer10) c.336_337insTG (p.Glu113TrpfsTer6) | |
| 6 | g.136826467G>A | CA365856030 | PEX7 | c.337G>A (p.Glu113Lys) c.212G>A c.223G>A (p.Glu75Lys) c.342G>A (n.342G>A) c.217G>A (p.Glu73Lys) | |
| 6 | g.136826467G>C | CA365856031 | PEX7 | c.337G>C (p.Glu113Gln) c.212G>C c.223G>C (p.Glu75Gln) c.342G>C (n.342G>C) c.217G>C (p.Glu73Gln) | COSMIC |
| 6 | g.136826467G>T | CA365856032 | PEX7 | c.337G>T (p.Glu113Ter) c.212G>T c.223G>T (p.Glu75Ter) c.342G>T (n.342G>T) c.217G>T (p.Glu73Ter) | |
| 6 | g.136826468A>C | CA365856033 | PEX7 | c.338A>C (p.Glu113Ala) c.213A>C c.224A>C (p.Glu75Ala) c.343A>C (n.343A>C) c.218A>C (p.Glu73Ala) | |
| 6 | g.136826468A>G | CA365856034 | PEX7 | c.338A>G (p.Glu113Gly) c.213A>G c.224A>G (p.Glu75Gly) c.343A>G (n.343A>G) c.218A>G (p.Glu73Gly) | |
| 6 | g.136826468A>T | CA365856035 | PEX7 | c.338A>T (p.Glu113Val) c.213A>T c.224A>T (p.Glu75Val) c.343A>T (n.343A>T) c.218A>T (p.Glu73Val) | |
| 6 | g.136826469G>A | CA452377119 | PEX7 | c.339G>A (p.Glu113=) c.214G>A c.225G>A (p.Glu75=) c.344G>A (n.344G>A) c.219G>A (p.Glu73=) | gnomAD v4 |
| 6 | g.136826469G>C | CA365856036 | PEX7 | c.339G>C (p.Glu113Asp) c.214G>C c.225G>C (p.Glu75Asp) c.344G>C (n.344G>C) c.219G>C (p.Glu73Asp) | |
| 6 | g.136826469G>T | CA365856037 | PEX7 | c.339G>T (p.Glu113Asp) c.214G>T c.225G>T (p.Glu75Asp) c.344G>T (n.344G>T) c.219G>T (p.Glu73Asp) | |
| 6 | g.136826470G>A | CA365856038 | PEX7 | c.339+1G>A (n.339+1G>A) c.214+1G>A c.225+1G>A (n.225+1G>A) c.344+1G>A (n.344+1G>A) c.219+1G>A (n.219+1G>A) | gnomAD v4 |
| 6 | g.136826470G>C | CA365856040 | PEX7 | c.339+1G>C (n.339+1G>C) c.214+1G>C c.225+1G>C (n.225+1G>C) c.344+1G>C (n.344+1G>C) c.219+1G>C (n.219+1G>C) | |
| 6 | g.136826470G>T | CA365856039 | PEX7 | c.339+1G>T (n.339+1G>T) c.214+1G>T c.225+1G>T (n.225+1G>T) c.344+1G>T (n.344+1G>T) c.219+1G>T (n.219+1G>T) | |
| 6 | g.136826471T>A | CA365856041 | PEX7 | c.339+2T>A (n.339+2T>A) c.214+2T>A c.225+2T>A (n.225+2T>A) c.344+2T>A (n.344+2T>A) c.219+2T>A (n.219+2T>A) | |
| 6 | g.136826471T>C | CA16041013 | PEX7 | c.339+2T>C (n.339+2T>C) c.214+2T>C c.225+2T>C (n.225+2T>C) c.344+2T>C (n.344+2T>C) c.219+2T>C (n.219+2T>C) | ClinVar dbSNP gnomAD v4 |
| 6 | g.136826471T>G | CA365856042 | PEX7 | c.339+2T>G (n.339+2T>G) c.214+2T>G c.225+2T>G (n.225+2T>G) c.344+2T>G (n.344+2T>G) c.219+2T>G (n.219+2T>G) | |
| 6 | g.136826472A>C | CA2680488231 | PEX7 | c.339+3A>C (n.339+3A>C) c.214+3A>C c.225+3A>C (n.225+3A>C) c.344+3A>C (n.344+3A>C) c.219+3A>C (n.219+3A>C) | gnomAD v4 |
| 6 | g.136826472A>G | CA2578751760 | PEX7 | c.339+3A>G (n.339+3A>G) c.214+3A>G c.225+3A>G (n.225+3A>G) c.344+3A>G (n.344+3A>G) c.219+3A>G (n.219+3A>G) | dbSNP |
| 6 | g.136826473G>A | CA570744631 | PEX7 | c.339+4G>A (n.339+4G>A) c.214+4G>A c.225+4G>A (n.225+4G>A) c.344+4G>A (n.344+4G>A) c.219+4G>A (n.219+4G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.136826477_136826478insA | CA2773213219 | PEX7 | c.339+8_339+9insA (n.339+8_339+9insA) c.214+8_214+9insA c.225+8_225+9insA (n.225+8_225+9insA) c.344+8_344+9insA (n.344+8_344+9insA) c.219+8_219+9insA (n.219+8_219+9insA) | |
| 6 | g.136826478G>C | CA2697553782 | PEX7 | c.339+9G>C (n.339+9G>C) c.214+9G>C c.225+9G>C (n.225+9G>C) c.344+9G>C (n.344+9G>C) c.219+9G>C (n.219+9G>C) | ClinVar |
| 6 | g.136826479A>C | CA4017557 | PEX7 | c.339+10A>C (n.339+10A>C) c.214+10A>C c.225+10A>C (n.225+10A>C) c.344+10A>C (n.344+10A>C) c.219+10A>C (n.219+10A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.136826479A>G | CA4017556 | PEX7 | c.339+10A>G (n.339+10A>G) c.214+10A>G c.225+10A>G (n.225+10A>G) c.344+10A>G (n.344+10A>G) c.219+10A>G (n.219+10A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136826479A>T | CA2773213222 | PEX7 | c.339+10A>T (n.339+10A>T) c.214+10A>T c.225+10A>T (n.225+10A>T) c.344+10A>T (n.344+10A>T) c.219+10A>T (n.219+10A>T) | |
| 6 | g.136826481A>G | CA651183700 | PEX7 | c.339+12A>G (n.339+12A>G) c.214+12A>G c.225+12A>G (n.225+12A>G) c.344+12A>G (n.344+12A>G) c.219+12A>G (n.219+12A>G) | gnomAD v4 COSMIC |
| 6 | g.136826483C>A | CA570744633 | PEX7 | c.339+14C>A (n.339+14C>A) c.214+14C>A c.225+14C>A (n.225+14C>A) c.344+14C>A (n.344+14C>A) c.219+14C>A (n.219+14C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.136826483C>T | CA4017558 | PEX7 | c.339+14C>T (n.339+14C>T) c.214+14C>T c.225+14C>T (n.225+14C>T) c.344+14C>T (n.344+14C>T) c.219+14C>T (n.219+14C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.136826484T>A | CA2739266175 | PEX7 | c.339+15T>A (n.339+15T>A) c.214+15T>A c.225+15T>A (n.225+15T>A) c.344+15T>A (n.344+15T>A) c.219+15T>A (n.219+15T>A) | ClinVar |
| 6 | g.136826486T>C | CA4017559 | PEX7 | c.339+17T>C (n.339+17T>C) c.214+17T>C c.225+17T>C (n.225+17T>C) c.344+17T>C (n.344+17T>C) c.219+17T>C (n.219+17T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136826487C>T | CA2680488237 | PEX7 | c.339+18C>T (n.339+18C>T) c.214+18C>T c.225+18C>T (n.225+18C>T) c.344+18C>T (n.344+18C>T) c.219+18C>T (n.219+18C>T) | gnomAD v4 |
| 6 | g.136826487_136826488insACAT | CA2773213228 | PEX7 | c.339+18_339+19insACAT (n.339+18_339+19insACAT) c.214+18_214+19insACAT c.225+18_225+19insACAT (n.225+18_225+19insACAT) c.344+18_344+19insACAT (n.344+18_344+19insACAT) c.219+18_219+19insACAT (n.219+18_219+19insACAT) | |
| 6 | g.136826488T>C | CA2573140628 | PEX7 | c.339+19T>C (n.339+19T>C) c.214+19T>C c.225+19T>C (n.225+19T>C) c.344+19T>C (n.344+19T>C) c.219+19T>C (n.219+19T>C) | ClinVar dbSNP gnomAD v4 |
| 6 | g.136826489G>A | CA4017560 | PEX7 | c.339+20G>A (n.339+20G>A) c.214+20G>A c.225+20G>A (n.225+20G>A) c.344+20G>A (n.344+20G>A) c.219+20G>A (n.219+20G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.136826491G>A | CA2773213229 | PEX7 | c.339+22G>A (n.339+22G>A) c.214+22G>A c.225+22G>A (n.225+22G>A) c.344+22G>A (n.344+22G>A) c.219+22G>A (n.219+22G>A) | |
| 6 | g.136826492C>T | CA2680488239 | PEX7 | c.339+23C>T (n.339+23C>T) c.214+23C>T c.225+23C>T (n.225+23C>T) c.344+23C>T (n.344+23C>T) c.219+23C>T (n.219+23C>T) | gnomAD v4 |
| 6 | g.136826493T>A | CA2773213230 | PEX7 | c.339+24T>A (n.339+24T>A) c.214+24T>A c.225+24T>A (n.225+24T>A) c.344+24T>A (n.344+24T>A) c.219+24T>A (n.219+24T>A) | |
| 6 | g.136826493T>C | CA2680488240 | PEX7 | c.339+24T>C (n.339+24T>C) c.214+24T>C c.225+24T>C (n.225+24T>C) c.344+24T>C (n.344+24T>C) c.219+24T>C (n.219+24T>C) | gnomAD v4 |
| 6 | g.136826493T>G | CA2680488241 | PEX7 | c.339+24T>G (n.339+24T>G) c.214+24T>G c.225+24T>G (n.225+24T>G) c.344+24T>G (n.344+24T>G) c.219+24T>G (n.219+24T>G) | gnomAD v4 |
| 6 | g.136826496T>C | CA4017561 | PEX7 | c.339+27T>C (n.339+27T>C) c.214+27T>C c.225+27T>C (n.225+27T>C) c.344+27T>C (n.344+27T>C) c.219+27T>C (n.219+27T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136826501T>C | CA2578751765 | PEX7 | c.339+32T>C (n.339+32T>C) c.214+32T>C c.225+32T>C (n.225+32T>C) c.344+32T>C (n.344+32T>C) c.219+32T>C (n.219+32T>C) | |
| 6 | g.136826503_136826510del | CA2773213231 | PEX7 | c.339+34_339+41del (n.339+34_339+41del) c.214+34_214+41del c.225+34_225+41del (n.225+34_225+41del) c.344+34_344+41del (n.344+34_344+41del) c.219+34_219+41del (n.219+34_219+41del) | |
| 6 | g.136826501_136826502insAC | CA2773213232 | PEX7 | c.339+32_339+33insAC (n.339+32_339+33insAC) c.214+32_214+33insAC c.225+32_225+33insAC (n.225+32_225+33insAC) c.344+32_344+33insAC (n.344+32_344+33insAC) c.219+32_219+33insAC (n.219+32_219+33insAC) | |
| 6 | g.136826503_136826511del | CA2680488244 | PEX7 | c.339+34_339+42del (n.339+34_339+42del) c.214+34_214+42del c.225+34_225+42del (n.225+34_225+42del) c.344+34_344+42del (n.344+34_344+42del) c.219+34_219+42del (n.219+34_219+42del) | gnomAD v4 |
| 6 | g.136826504C>A | CA2680488245 | PEX7 | c.339+35C>A (n.339+35C>A) c.214+35C>A c.225+35C>A (n.225+35C>A) c.344+35C>A (n.344+35C>A) c.219+35C>A (n.219+35C>A) | gnomAD v4 |
| 6 | g.136826504C>G | CA2713176171 | PEX7 | c.339+35C>G (n.339+35C>G) c.214+35C>G c.225+35C>G (n.225+35C>G) c.344+35C>G (n.344+35C>G) c.219+35C>G (n.219+35C>G) | dbSNP |
| 6 | g.136826506_136826510del | CA2773213233 | PEX7 | c.339+37_339+41del (n.339+37_339+41del) c.214+37_214+41del c.225+37_225+41del (n.225+37_225+41del) c.344+37_344+41del (n.344+37_344+41del) c.219+37_219+41del (n.219+37_219+41del) | |
| 6 | g.136826505_136826506insA | CA2773213234 | PEX7 | c.339+36_339+37insA (n.339+36_339+37insA) c.214+36_214+37insA c.225+36_225+37insA (n.225+36_225+37insA) c.344+36_344+37insA (n.344+36_344+37insA) c.219+36_219+37insA (n.219+36_219+37insA) | |
| 6 | g.136826506T>G | CA570744634 | PEX7 | c.339+37T>G (n.339+37T>G) c.214+37T>G c.225+37T>G (n.225+37T>G) c.344+37T>G (n.344+37T>G) c.219+37T>G (n.219+37T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136826508C>T | CA2680488247 | PEX7 | c.339+39C>T (n.339+39C>T) c.214+39C>T c.225+39C>T (n.225+39C>T) c.344+39C>T (n.344+39C>T) c.219+39C>T (n.219+39C>T) | gnomAD v4 |
| 6 | g.136826508_136826509insA | CA2773213236 | PEX7 | c.339+39_339+40insA (n.339+39_339+40insA) c.214+39_214+40insA c.225+39_225+40insA (n.225+39_225+40insA) c.344+39_344+40insA (n.344+39_344+40insA) c.219+39_219+40insA (n.219+39_219+40insA) | |
| 6 | g.136826508_136826509insACA | CA2773213235 | PEX7 | c.339+39_339+40insACA (n.339+39_339+40insACA) c.214+39_214+40insACA c.225+39_225+40insACA (n.225+39_225+40insACA) c.344+39_344+40insACA (n.344+39_344+40insACA) c.219+39_219+40insACA (n.219+39_219+40insACA) | |
| 6 | g.136826509T>C | CA2680488248 | PEX7 | c.339+40T>C (n.339+40T>C) c.214+40T>C c.225+40T>C (n.225+40T>C) c.344+40T>C (n.344+40T>C) c.219+40T>C (n.219+40T>C) | dbSNP gnomAD v4 |
| 6 | g.136826509T>G | CA2680488249 | PEX7 | c.339+40T>G (n.339+40T>G) c.214+40T>G c.225+40T>G (n.225+40T>G) c.344+40T>G (n.344+40T>G) c.219+40T>G (n.219+40T>G) | gnomAD v4 |
| 6 | g.136826509_136826510insAGA | CA2773213237 | PEX7 | c.339+40_339+41insAGA (n.339+40_339+41insAGA) c.214+40_214+41insAGA c.225+40_225+41insAGA (n.225+40_225+41insAGA) c.344+40_344+41insAGA (n.344+40_344+41insAGA) c.219+40_219+41insAGA (n.219+40_219+41insAGA) | |
| 6 | g.136826510T>A | CA2773213241 | PEX7 | c.339+41T>A (n.339+41T>A) c.214+41T>A c.225+41T>A (n.225+41T>A) c.344+41T>A (n.344+41T>A) c.219+41T>A (n.219+41T>A) | |
| 6 | g.136826510T>C | CA2680488251 | PEX7 | c.339+41T>C (n.339+41T>C) c.214+41T>C c.225+41T>C (n.225+41T>C) c.344+41T>C (n.344+41T>C) c.219+41T>C (n.219+41T>C) | gnomAD v4 |
| 6 | g.136826510_136826512del | CA2773213239 | PEX7 | c.339+41_339+43del (n.339+41_339+43del) c.214+41_214+43del c.225+41_225+43del (n.225+41_225+43del) c.344+41_344+43del (n.344+41_344+43del) c.219+41_219+43del (n.219+41_219+43del) | |
| 6 | g.136826511C>A | CA2773213245 | PEX7 | c.339+42C>A (n.339+42C>A) c.214+42C>A c.225+42C>A (n.225+42C>A) c.344+42C>A (n.344+42C>A) c.219+42C>A (n.219+42C>A) | |
| 6 | g.136826511C>T | CA4017562 | PEX7 | c.339+42C>T (n.339+42C>T) c.214+42C>T c.225+42C>T (n.225+42C>T) c.344+42C>T (n.344+42C>T) c.219+42C>T (n.219+42C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136826511_136826512del | CA2773213244 | PEX7 | c.339+42_339+43del (n.339+42_339+43del) c.214+42_214+43del c.225+42_225+43del (n.225+42_225+43del) c.344+42_344+43del (n.344+42_344+43del) c.219+42_219+43del (n.219+42_219+43del) | |
| 6 | g.136826511_136826512insACA | CA2773213247 | PEX7 | c.339+42_339+43insACA (n.339+42_339+43insACA) c.214+42_214+43insACA c.225+42_225+43insACA (n.225+42_225+43insACA) c.344+42_344+43insACA (n.344+42_344+43insACA) c.219+42_219+43insACA (n.219+42_219+43insACA) | |
| 6 | g.136826511_136826512insAGA | CA2773213248 | PEX7 | c.339+42_339+43insAGA (n.339+42_339+43insAGA) c.214+42_214+43insAGA c.225+42_225+43insAGA (n.225+42_225+43insAGA) c.344+42_344+43insAGA (n.344+42_344+43insAGA) c.219+42_219+43insAGA (n.219+42_219+43insAGA) | |
| 6 | g.136826512del | CA2773213249 | PEX7 | c.339+43del (n.339+43del) c.214+43del c.225+43del (n.225+43del) c.344+43del (n.344+43del) c.219+43del (n.219+43del) | |
| 6 | g.136826512G>A | CA819503426 | PEX7 | c.339+43G>A (n.339+43G>A) c.214+43G>A c.225+43G>A (n.225+43G>A) c.344+43G>A (n.344+43G>A) c.219+43G>A (n.219+43G>A) | dbSNP gnomAD v4 |
| 6 | g.136826512G>T | CA2680488253 | PEX7 | c.339+43G>T (n.339+43G>T) c.214+43G>T c.225+43G>T (n.225+43G>T) c.344+43G>T (n.344+43G>T) c.219+43G>T (n.219+43G>T) | gnomAD v4 |
| 6 | g.136826514C>A | CA4017563 | PEX7 | c.339+45C>A (n.339+45C>A) c.214+45C>A c.225+45C>A (n.225+45C>A) c.344+45C>A (n.344+45C>A) c.219+45C>A (n.219+45C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.136826514_136826518del | CA2773213252 | PEX7 | c.339+45_339+49del (n.339+45_339+49del) c.214+45_214+49del c.225+45_225+49del (n.225+45_225+49del) c.344+45_344+49del (n.344+45_344+49del) c.219+45_219+49del (n.219+45_219+49del) | |
| 6 | g.136826515T>A | CA2773213253 | PEX7 | c.339+46T>A (n.339+46T>A) c.214+46T>A c.225+46T>A (n.225+46T>A) c.344+46T>A (n.344+46T>A) c.219+46T>A (n.219+46T>A) | |
| 6 | g.136826515_136826516insA | CA2773213255 | PEX7 | c.339+46_339+47insA (n.339+46_339+47insA) c.214+46_214+47insA c.225+46_225+47insA (n.225+46_225+47insA) c.344+46_344+47insA (n.344+46_344+47insA) c.219+46_219+47insA (n.219+46_219+47insA) | |
| 6 | g.136826515_136826516insAC | CA2773213256 | PEX7 | c.339+46_339+47insAC (n.339+46_339+47insAC) c.214+46_214+47insAC c.225+46_225+47insAC (n.225+46_225+47insAC) c.344+46_344+47insAC (n.344+46_344+47insAC) c.219+46_219+47insAC (n.219+46_219+47insAC) | |
| 6 | g.136826515_136826516insACA | CA2773213257 | PEX7 | c.339+46_339+47insACA (n.339+46_339+47insACA) c.214+46_214+47insACA c.225+46_225+47insACA (n.225+46_225+47insACA) c.344+46_344+47insACA (n.344+46_344+47insACA) c.219+46_219+47insACA (n.219+46_219+47insACA) | |
| 6 | g.136826516T>A | CA2713165623 | PEX7 | c.339+47T>A (n.339+47T>A) c.214+47T>A c.225+47T>A (n.225+47T>A) c.344+47T>A (n.344+47T>A) c.219+47T>A (n.219+47T>A) | dbSNP |
| 6 | g.136826516T>C | CA2773213258 | PEX7 | c.339+47T>C (n.339+47T>C) c.214+47T>C c.225+47T>C (n.225+47T>C) c.344+47T>C (n.344+47T>C) c.219+47T>C (n.219+47T>C) | |
| 6 | g.136826516T>G | CA2773213259 | PEX7 | c.339+47T>G (n.339+47T>G) c.214+47T>G c.225+47T>G (n.225+47T>G) c.344+47T>G (n.344+47T>G) c.219+47T>G (n.219+47T>G) | |
| 6 | g.136826517T>A | CA2773213262 | PEX7 | c.339+48T>A (n.339+48T>A) c.214+48T>A c.225+48T>A (n.225+48T>A) c.344+48T>A (n.344+48T>A) c.219+48T>A (n.219+48T>A) | |
| 6 | g.136826517T>C | CA4017564 | PEX7 | c.339+48T>C (n.339+48T>C) c.214+48T>C c.225+48T>C (n.225+48T>C) c.344+48T>C (n.344+48T>C) c.219+48T>C (n.219+48T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136826518G>A | CA4017565 | PEX7 | c.339+49G>A (n.339+49G>A) c.214+49G>A c.225+49G>A (n.225+49G>A) c.344+49G>A (n.344+49G>A) c.219+49G>A (n.219+49G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136826519G>A | CA2680488255 | PEX7 | c.339+50G>A (n.339+50G>A) c.214+50G>A c.225+50G>A (n.225+50G>A) c.344+50G>A (n.344+50G>A) c.219+50G>A (n.219+50G>A) | gnomAD v4 |
| 6 | g.136826519G>T | CA2540682080 | PEX7 | c.339+50G>T (n.339+50G>T) c.214+50G>T c.225+50G>T (n.225+50G>T) c.344+50G>T (n.344+50G>T) c.219+50G>T (n.219+50G>T) | gnomAD v4 |
| 6 | g.136826520_136826521insAG | CA2773213265 | PEX7 | c.339+51_339+52insAG (n.339+51_339+52insAG) c.214+51_214+52insAG c.225+51_225+52insAG (n.225+51_225+52insAG) c.344+51_344+52insAG (n.344+51_344+52insAG) c.219+51_219+52insAG (n.219+51_219+52insAG) | |
| 6 | g.136826521T>A | CA2680488257 | PEX7 | c.339+52T>A (n.339+52T>A) c.214+52T>A c.225+52T>A (n.225+52T>A) c.344+52T>A (n.344+52T>A) c.219+52T>A (n.219+52T>A) | gnomAD v4 |
| 6 | g.136826521_136826524del | CA2773213266 | PEX7 | c.339+52_339+55del (n.339+52_339+55del) c.214+52_214+55del c.225+52_225+55del (n.225+52_225+55del) c.344+52_344+55del (n.344+52_344+55del) c.219+52_219+55del (n.219+52_219+55del) | |
| 6 | g.136826522G>T | CA2680488259 | PEX7 | c.339+53G>T (n.339+53G>T) c.214+53G>T c.225+53G>T (n.225+53G>T) c.344+53G>T (n.344+53G>T) c.219+53G>T (n.219+53G>T) | gnomAD v4 |
| 6 | g.136826522_136826523del | CA2773213267 | PEX7 | c.339+53_339+54del (n.339+53_339+54del) c.214+53_214+54del c.225+53_225+54del (n.225+53_225+54del) c.344+53_344+54del (n.344+53_344+54del) c.219+53_219+54del (n.219+53_219+54del) | |
| 6 | g.136826523_136826524insG | CA2773213268 | PEX7 | c.339+54_339+55insG (n.339+54_339+55insG) c.214+54_214+55insG c.225+54_225+55insG (n.225+54_225+55insG) c.344+54_344+55insG (n.344+54_344+55insG) c.219+54_219+55insG (n.219+54_219+55insG) | |
| 6 | g.136826524_136826527del | CA2773213269 | PEX7 | c.339+55_339+58del (n.339+55_339+58del) c.214+55_214+58del c.225+55_225+58del (n.225+55_225+58del) c.344+55_344+58del (n.344+55_344+58del) c.219+55_219+58del (n.219+55_219+58del) |