UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.1496307_1496376del | CA9047555 | REEP6 | c.371_440del (p.Met124ThrfsTer5) c.187_256del c.155_224del (p.Met52ThrfsTer5) | ExAC gnomAD v2 gnomAD v4 |
| 19 | g.1496332T>A | CA504733375 | REEP6 | c.396T>A (p.Ala132=) c.212T>A c.180T>A (p.Ala60=) | |
| 19 | g.1496332T>C | CA504733378 | REEP6 | c.396T>C (p.Ala132=) c.212T>C c.180T>C (p.Ala60=) | |
| 19 | g.1496332T>G | CA504733377 | REEP6 | c.396T>G (p.Ala132=) c.212T>G c.180T>G (p.Ala60=) | |
| 19 | g.1496333C>A | CA403056970 | REEP6 | c.397C>A (p.Leu133Ile) c.213C>A c.181C>A (p.Leu61Ile) | |
| 19 | g.1496333C>G | CA403056971 | REEP6 | c.397C>G (p.Leu133Val) c.213C>G c.181C>G (p.Leu61Val) | |
| 19 | g.1496333C>T | CA403056972 | REEP6 | c.397C>T (p.Leu133Phe) c.213C>T c.181C>T (p.Leu61Phe) | |
| 19 | g.1496334T>A | CA403056973 | REEP6 | c.398T>A (p.Leu133His) c.214T>A c.182T>A (p.Leu61His) | |
| 19 | g.1496334T>C | CA403056974 | REEP6 | c.398T>C (p.Leu133Pro) c.214T>C c.182T>C (p.Leu61Pro) | |
| 19 | g.1496334T>G | CA403056975 | REEP6 | c.398T>G (p.Leu133Arg) c.214T>G c.182T>G (p.Leu61Arg) | |
| 19 | g.1496335C>A | CA504733399 | REEP6 | c.399C>A (p.Leu133=) c.215C>A c.183C>A (p.Leu61=) | |
| 19 | g.1496335C= | CA2317756613 | REEP6 | c.399C= (p.Leu133=) c.215C= c.183C= (p.Leu61=) | |
| 19 | g.1496335C>G | CA504733403 | REEP6 | c.399C>G (p.Leu133=) c.215C>G c.183C>G (p.Leu61=) | |
| 19 | g.1496335C>T | CA504733404 | REEP6 | c.399C>T (p.Leu133=) c.215C>T c.183C>T (p.Leu61=) | dbSNP gnomAD v4 |
| 19 | g.1496336A= | CA2317756614 | REEP6 | c.400A= (p.Met134=) c.216A= c.184A= (p.Met62=) | |
| 19 | g.1496336A>C | CA403056976 | REEP6 | c.400A>C (p.Met134Leu) c.216A>C c.184A>C (p.Met62Leu) | |
| 19 | g.1496336A>G | CA9047560 | REEP6 | c.400A>G (p.Met134Val) c.216A>G c.184A>G (p.Met62Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.1496336A>T | CA403056977 | REEP6 | c.400A>T (p.Met134Leu) c.216A>T c.184A>T (p.Met62Leu) | |
| 19 | g.1496337T>A | CA403056978 | REEP6 | c.401T>A (p.Met134Lys) c.217T>A c.185T>A (p.Met62Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.1496337T>C | CA403056979 | REEP6 | c.401T>C (p.Met134Thr) c.217T>C c.185T>C (p.Met62Thr) | dbSNP gnomAD v4 |
| 19 | g.1496337T>G | CA403056980 | REEP6 | c.401T>G (p.Met134Arg) c.217T>G c.185T>G (p.Met62Arg) | dbSNP |
| 19 | g.1496337T= | CA2317756615 | REEP6 | c.401T= (p.Met134=) c.217T= c.185T= (p.Met62=) | |
| 19 | g.1496338G>A | CA403056981 | REEP6 | c.402G>A (p.Met134Ile) c.218G>A c.186G>A (p.Met62Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1496338G>C | CA403056982 | REEP6 | c.402G>C (p.Met134Ile) c.218G>C c.186G>C (p.Met62Ile) | |
| 19 | g.1496338G= | CA2317756616 | REEP6 | c.402G= (p.Met134=) c.218G= c.186G= (p.Met62=) | |
| 19 | g.1496338G>T | CA403056983 | REEP6 | c.402G>T (p.Met134Ile) c.218G>T c.186G>T (p.Met62Ile) | |
| 19 | g.1496339C>A | CA403056985 | REEP6 | c.403C>A (p.Leu135Met) c.219C>A c.187C>A (p.Leu63Met) | |
| 19 | g.1496339C>G | CA403056984 | REEP6 | c.403C>G (p.Leu135Val) c.219C>G c.187C>G (p.Leu63Val) | |
| 19 | g.1496339C>T | CA504733441 | REEP6 | c.403C>T (p.Leu135=) c.219C>T c.187C>T (p.Leu63=) | |
| 19 | g.1496340T>A | CA403056986 | REEP6 | c.404T>A (p.Leu135Gln) c.220T>A c.188T>A (p.Leu63Gln) | |
| 19 | g.1496340T>C | CA16044006 | REEP6 | c.404T>C (p.Leu135Pro) c.220T>C c.188T>C (p.Leu63Pro) | ClinVar dbSNP gnomAD v4 |
| 19 | g.1496340T>G | CA403056987 | REEP6 | c.404T>G (p.Leu135Arg) c.220T>G c.188T>G (p.Leu63Arg) | |
| 19 | g.1496340T= | CA2317756617 | REEP6 | c.404T= (p.Leu135=) c.220T= c.188T= (p.Leu63=) | |
| 19 | g.1496341G>A | CA504733457 | REEP6 | c.405G>A (p.Leu135=) c.221G>A c.189G>A (p.Leu63=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.1496341G>C | CA504733461 | REEP6 | c.405G>C (p.Leu135=) c.221G>C c.189G>C (p.Leu63=) | gnomAD v4 |
| 19 | g.1496341G= | CA2317756618 | REEP6 | c.405G= (p.Leu135=) c.221G= c.189G= (p.Leu63=) | |
| 19 | g.1496341G>T | CA504733465 | REEP6 | c.405G>T (p.Leu135=) c.221G>T c.189G>T (p.Leu63=) | |
| 19 | g.1496342T>A | CA403056988 | REEP6 | c.406T>A (p.Tyr136Asn) c.222T>A c.190T>A (p.Tyr64Asn) | |
| 19 | g.1496342T>C | CA403056989 | REEP6 | c.406T>C (p.Tyr136His) c.222T>C c.190T>C (p.Tyr64His) | |
| 19 | g.1496342T>G | CA403056990 | REEP6 | c.406T>G (p.Tyr136Asp) c.222T>G c.190T>G (p.Tyr64Asp) | |
| 19 | g.1496343A>C | CA403056991 | REEP6 | c.407A>C (p.Tyr136Ser) c.223A>C c.191A>C (p.Tyr64Ser) | |
| 19 | g.1496343A>G | CA403056993 | REEP6 | c.407A>G (p.Tyr136Cys) c.223A>G c.191A>G (p.Tyr64Cys) | |
| 19 | g.1496343A>T | CA403056992 | REEP6 | c.407A>T (p.Tyr136Phe) c.223A>T c.191A>T (p.Tyr64Phe) | |
| 19 | g.1496344T>A | CA403056994 | REEP6 | c.408T>A (p.Tyr136Ter) c.224T>A c.192T>A (p.Tyr64Ter) | ClinVar gnomAD v4 |
| 19 | g.1496344T>C | CA504733501 | REEP6 | c.408T>C (p.Tyr136=) c.224T>C c.192T>C (p.Tyr64=) | |
| 19 | g.1496344T>G | CA403056995 | REEP6 | c.408T>G (p.Tyr136Ter) c.224T>G c.192T>G (p.Tyr64Ter) | |
| 19 | g.1496345del | CA2813259392 | REEP6 | c.409del (p.Gln137SerfsTer9) c.225del c.193del (p.Gln65SerfsTer9) | |
| 19 | g.1496345C>A | CA403056996 | REEP6 | c.409C>A (p.Gln137Lys) c.225C>A c.193C>A (p.Gln65Lys) | |
| 19 | g.1496345C>G | CA403056997 | REEP6 | c.409C>G (p.Gln137Glu) c.225C>G c.193C>G (p.Gln65Glu) | |
| 19 | g.1496345C>T | CA403056998 | REEP6 | c.409C>T (p.Gln137Ter) c.225C>T c.193C>T (p.Gln65Ter) | |
| 19 | g.1496346A>C | CA403056999 | REEP6 | c.410A>C (p.Gln137Pro) c.226A>C c.194A>C (p.Gln65Pro) | |
| 19 | g.1496346A>G | CA403057000 | REEP6 | c.410A>G (p.Gln137Arg) c.226A>G c.194A>G (p.Gln65Arg) | |
| 19 | g.1496346A>T | CA403057001 | REEP6 | c.410A>T (p.Gln137Leu) c.226A>T c.194A>T (p.Gln65Leu) | |
| 19 | g.1496347G>A | CA504733515 | REEP6 | c.411G>A (p.Gln137=) c.227G>A c.195G>A (p.Gln65=) | |
| 19 | g.1496347G>C | CA403057002 | REEP6 | c.411G>C (p.Gln137His) c.227G>C c.195G>C (p.Gln65His) | |
| 19 | g.1496347G>T | CA403057003 | REEP6 | c.411G>T (p.Gln137His) c.227G>T c.195G>T (p.Gln65His) | |
| 19 | g.1496348C>A | CA403057004 | REEP6 | c.412C>A (p.Arg138Ser) c.228C>A c.196C>A (p.Arg66Ser) | |
| 19 | g.1496348C= | CA2317756619 | REEP6 | c.412C= (p.Arg138=) c.228C= c.196C= (p.Arg66=) | |
| 19 | g.1496348C>G | CA9047562 | REEP6 | c.412C>G (p.Arg138Gly) c.228C>G c.196C>G (p.Arg66Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1496348C>T | CA9047561 | REEP6 | c.412C>T (p.Arg138Cys) c.228C>T c.196C>T (p.Arg66Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1496349G>A | CA9047563 | REEP6 | c.413G>A (p.Arg138His) c.229G>A c.197G>A (p.Arg66His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1496349G>C | CA403057006 | REEP6 | c.413G>C (p.Arg138Pro) c.229G>C c.197G>C (p.Arg66Pro) | gnomAD v4 |
| 19 | g.1496349G= | CA2317756620 | REEP6 | c.413G= (p.Arg138=) c.229G= c.197G= (p.Arg66=) | |
| 19 | g.1496349G>T | CA403057005 | REEP6 | c.413G>T (p.Arg138Leu) c.229G>T c.197G>T (p.Arg66Leu) | gnomAD v4 |
| 19 | g.1496350C>A | CA504733529 | REEP6 | c.414C>A (p.Arg138=) c.230C>A c.198C>A (p.Arg66=) | |
| 19 | g.1496350C= | CA2317756621 | REEP6 | c.414C= (p.Arg138=) c.230C= c.198C= (p.Arg66=) | |
| 19 | g.1496350C>G | CA504733531 | REEP6 | c.414C>G (p.Arg138=) c.230C>G c.198C>G (p.Arg66=) | |
| 19 | g.1496350C>T | CA504733536 | REEP6 | c.414C>T (p.Arg138=) c.230C>T c.198C>T (p.Arg66=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.1496351G>A | CA9047564 | REEP6 | c.415G>A (p.Val139Ile) c.231G>A c.199G>A (p.Val67Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1496351G>C | CA403057008 | REEP6 | c.415G>C (p.Val139Leu) c.231G>C c.199G>C (p.Val67Leu) | gnomAD v4 |
| 19 | g.1496351G= | CA2317756622 | REEP6 | c.415G= (p.Val139=) c.231G= c.199G= (p.Val67=) | |
| 19 | g.1496351G>T | CA403057007 | REEP6 | c.415G>T (p.Val139Phe) c.231G>T c.199G>T (p.Val67Phe) | gnomAD v4 |
| 19 | g.1496352T>A | CA403057009 | REEP6 | c.416T>A (p.Val139Asp) c.232T>A c.200T>A (p.Val67Asp) | |
| 19 | g.1496352T>C | CA403057010 | REEP6 | c.416T>C (p.Val139Ala) c.232T>C c.200T>C (p.Val67Ala) | |
| 19 | g.1496352T>G | CA403057011 | REEP6 | c.416T>G (p.Val139Gly) c.232T>G c.200T>G (p.Val67Gly) | |
| 19 | g.1496353C>A | CA504733561 | REEP6 | c.417C>A (p.Val139=) c.233C>A c.201C>A (p.Val67=) | |
| 19 | g.1496353C= | CA2317756623 | REEP6 | c.417C= (p.Val139=) c.233C= c.201C= (p.Val67=) | |
| 19 | g.1496353C>G | CA504733565 | REEP6 | c.417C>G (p.Val139=) c.233C>G c.201C>G (p.Val67=) | |
| 19 | g.1496353C>T | CA504733558 | REEP6 | c.417C>T (p.Val139=) c.233C>T c.201C>T (p.Val67=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 19 | g.1496354G>A | CA9047565 | REEP6 | c.418G>A (p.Val140Met) c.234G>A c.202G>A (p.Val68Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.1496354G>C | CA403057012 | REEP6 | c.418G>C (p.Val140Leu) c.234G>C c.202G>C (p.Val68Leu) | |
| 19 | g.1496354G= | CA2317756624 | REEP6 | c.418G= (p.Val140=) c.234G= c.202G= (p.Val68=) | |
| 19 | g.1496354G>T | CA403057013 | REEP6 | c.418G>T (p.Val140Leu) c.234G>T c.202G>T (p.Val68Leu) | |
| 19 | g.1496355T>A | CA403057014 | REEP6 | c.419T>A (p.Val140Glu) c.235T>A c.203T>A (p.Val68Glu) | |
| 19 | g.1496355T>C | CA403057015 | REEP6 | c.419T>C (p.Val140Ala) c.235T>C c.203T>C (p.Val68Ala) | |
| 19 | g.1496355T>G | CA403057016 | REEP6 | c.419T>G (p.Val140Gly) c.235T>G c.203T>G (p.Val68Gly) | |
| 19 | g.1496356G>A | CA9047566 | REEP6 | c.420G>A (p.Val140=) c.236G>A c.204G>A (p.Val68=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1496356G>C | CA504733582 | REEP6 | c.420G>C (p.Val140=) c.236G>C c.204G>C (p.Val68=) | |
| 19 | g.1496356G= | CA2317756625 | REEP6 | c.420G= (p.Val140=) c.236G= c.204G= (p.Val68=) | |
| 19 | g.1496356G>T | CA504733580 | REEP6 | c.420G>T (p.Val140=) c.236G>T c.204G>T (p.Val68=) | |
| 19 | g.1496357C>A | CA403057017 | REEP6 | c.421C>A (p.Arg141Ser) c.237C>A c.205C>A (p.Arg69Ser) | gnomAD v4 |
| 19 | g.1496357C= | CA2317756626 | REEP6 | c.421C= (p.Arg141=) c.237C= c.205C= (p.Arg69=) | |
| 19 | g.1496357C>G | CA403057018 | REEP6 | c.421C>G (p.Arg141Gly) c.237C>G c.205C>G (p.Arg69Gly) | ClinVar |
| 19 | g.1496357C>T | CA9047567 | REEP6 | c.421C>T (p.Arg141Cys) c.237C>T c.205C>T (p.Arg69Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1496358G>A | CA9047568 | REEP6 | c.422G>A (p.Arg141His) c.238G>A c.206G>A (p.Arg69His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1496358G>C | CA403057019 | REEP6 | c.422G>C (p.Arg141Pro) c.238G>C c.206G>C (p.Arg69Pro) | |
| 19 | g.1496358G= | CA2317756627 | REEP6 | c.422G= (p.Arg141=) c.238G= c.206G= (p.Arg69=) | |
| 19 | g.1496358G>T | CA304100525 | REEP6 | c.422G>T (p.Arg141Leu) c.238G>T c.206G>T (p.Arg69Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.1496359T>A | CA504733599 | REEP6 | c.423T>A (p.Arg141=) c.239T>A c.207T>A (p.Arg69=) | |
| 19 | g.1496359T>C | CA504733605 | REEP6 | c.423T>C (p.Arg141=) c.239T>C c.207T>C (p.Arg69=) | |
| 19 | g.1496359T>G | CA504733602 | REEP6 | c.423T>G (p.Arg141=) c.239T>G c.207T>G (p.Arg69=) | |
| 19 | g.1496360C>A | CA403057020 | REEP6 | c.424C>A (p.Pro142Thr) c.240C>A c.208C>A (p.Pro70Thr) | |
| 19 | g.1496360C>G | CA403057021 | REEP6 | c.424C>G (p.Pro142Ala) c.240C>G c.208C>G (p.Pro70Ala) | |
| 19 | g.1496360C>T | CA403057022 | REEP6 | c.424C>T (p.Pro142Ser) c.240C>T c.208C>T (p.Pro70Ser) | gnomAD v4 |
| 19 | g.1496361C>A | CA403057023 | REEP6 | c.425C>A (p.Pro142Gln) c.241C>A c.209C>A (p.Pro70Gln) | |
| 19 | g.1496361C= | CA2317756628 | REEP6 | c.425C= (p.Pro142=) c.241C= c.209C= (p.Pro70=) | |
| 19 | g.1496361C>G | CA403057024 | REEP6 | c.425C>G (p.Pro142Arg) c.241C>G c.209C>G (p.Pro70Arg) | |
| 19 | g.1496361C>T | CA304100529 | REEP6 | c.425C>T (p.Pro142Leu) c.241C>T c.209C>T (p.Pro70Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1496362G>A | CA9047569 | REEP6 | c.426G>A (p.Pro142=) c.242G>A c.210G>A (p.Pro70=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1496362G>C | CA504733625 | REEP6 | c.426G>C (p.Pro142=) c.242G>C c.210G>C (p.Pro70=) | gnomAD v4 |
| 19 | g.1496362G= | CA2317756629 | REEP6 | c.426G= (p.Pro142=) c.242G= c.210G= (p.Pro70=) | |
| 19 | g.1496362G>T | CA504733627 | REEP6 | c.426G>T (p.Pro142=) c.242G>T c.210G>T (p.Pro70=) | COSMIC COSMIC |
| 19 | g.1496363C>A | CA403057025 | REEP6 | c.427C>A (p.Leu143Met) c.243C>A c.211C>A (p.Leu71Met) | |
| 19 | g.1496363C>G | CA403057026 | REEP6 | c.427C>G (p.Leu143Val) c.243C>G c.211C>G (p.Leu71Val) | gnomAD v4 |
| 19 | g.1496363C>T | CA504733634 | REEP6 | c.427C>T (p.Leu143=) c.243C>T c.211C>T (p.Leu71=) | |
| 19 | g.1496364T>A | CA403057029 | REEP6 | c.428T>A (p.Leu143Gln) c.244T>A c.212T>A (p.Leu71Gln) | |
| 19 | g.1496364T>C | CA403057028 | REEP6 | c.428T>C (p.Leu143Pro) c.244T>C c.212T>C (p.Leu71Pro) | COSMIC COSMIC |
| 19 | g.1496364T>G | CA403057027 | REEP6 | c.428T>G (p.Leu143Arg) c.244T>G c.212T>G (p.Leu71Arg) | |
| 19 | g.1496365G>A | CA9047570 | REEP6 | c.429G>A (p.Leu143=) c.245G>A c.213G>A (p.Leu71=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.1496365G>C | CA504733643 | REEP6 | c.429G>C (p.Leu143=) c.245G>C c.213G>C (p.Leu71=) | ClinVar dbSNP |
| 19 | g.1496365G= | CA2317756630 | REEP6 | c.429G= (p.Leu143=) c.245G= c.213G= (p.Leu71=) | |
| 19 | g.1496365G>T | CA504733644 | REEP6 | c.429G>T (p.Leu143=) c.245G>T c.213G>T (p.Leu71=) | |
| 19 | g.1496366T>A | CA403057030 | REEP6 | c.430T>A (p.Phe144Ile) c.246T>A c.214T>A (p.Phe72Ile) | |
| 19 | g.1496366T>C | CA403057031 | REEP6 | c.430T>C (p.Phe144Leu) c.246T>C c.214T>C (p.Phe72Leu) | |
| 19 | g.1496366T>G | CA403057032 | REEP6 | c.430T>G (p.Phe144Val) c.246T>G c.214T>G (p.Phe72Val) | |
| 19 | g.1496367T>A | CA403057033 | REEP6 | c.431T>A (p.Phe144Tyr) c.247T>A c.215T>A (p.Phe72Tyr) | |
| 19 | g.1496367T>C | CA403057034 | REEP6 | c.431T>C (p.Phe144Ser) c.247T>C c.215T>C (p.Phe72Ser) | |
| 19 | g.1496367T>G | CA403057035 | REEP6 | c.431T>G (p.Phe144Cys) c.247T>G c.215T>G (p.Phe72Cys) | gnomAD v4 |
| 19 | g.1496368C>A | CA403057036 | REEP6 | c.432C>A (p.Phe144Leu) c.248C>A c.216C>A (p.Phe72Leu) | |
| 19 | g.1496368C= | CA2317756631 | REEP6 | c.432C= (p.Phe144=) c.248C= c.216C= (p.Phe72=) | |
| 19 | g.1496368C>G | CA9047571 | REEP6 | c.432C>G (p.Phe144Leu) c.248C>G c.216C>G (p.Phe72Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1496368C>T | CA504733676 | REEP6 | c.432C>T (p.Phe144=) c.248C>T c.216C>T (p.Phe72=) | gnomAD v4 |
| 19 | g.1496369C>A | CA402993699 | REEP6 | c.433C>A (p.Leu145Ile) c.249C>A c.217C>A (p.Leu73Ile) | |
| 19 | g.1496369C= | CA2317756632 | REEP6 | c.433C= (p.Leu145=) c.249C= c.217C= (p.Leu73=) | |
| 19 | g.1496369C>G | CA402993736 | REEP6 | c.433C>G (p.Leu145Val) c.249C>G c.217C>G (p.Leu73Val) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.1496369C>T | CA504731146 | REEP6 | c.433C>T (p.Leu145=) c.249C>T c.217C>T (p.Leu73=) | gnomAD v4 |
| 19 | g.1496370T>A | CA402993755 | REEP6 | c.434T>A (p.Leu145Gln) c.250T>A c.218T>A (p.Leu73Gln) | |
| 19 | g.1496370T>C | CA9047572 | REEP6 | c.434T>C (p.Leu145Pro) c.250T>C c.218T>C (p.Leu73Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.1496370T>G | CA402993745 | REEP6 | c.434T>G (p.Leu145Arg) c.250T>G c.218T>G (p.Leu73Arg) | |
| 19 | g.1496370T= | CA2317756633 | REEP6 | c.434T= (p.Leu145=) c.250T= c.218T= (p.Leu73=) | |
| 19 | g.1496371A>C | CA504731160 | REEP6 | c.435A>C (p.Leu145=) c.251A>C c.219A>C (p.Leu73=) | |
| 19 | g.1496371A>G | CA504731162 | REEP6 | c.435A>G (p.Leu145=) c.251A>G c.219A>G (p.Leu73=) | |
| 19 | g.1496371A>T | CA504731164 | REEP6 | c.435A>T (p.Leu145=) c.251A>T c.219A>T (p.Leu73=) | |
| 19 | g.1496372A>C | CA504731167 | REEP6 | c.436A>C (p.Arg146=) c.252A>C c.220A>C (p.Arg74=) | |
| 19 | g.1496372A>G | CA402993762 | REEP6 | c.436A>G (p.Arg146Gly) c.252A>G c.220A>G (p.Arg74Gly) | |
| 19 | g.1496372A>T | CA402993766 | REEP6 | c.436A>T (p.Arg146Trp) c.252A>T c.220A>T (p.Arg74Trp) | |
| 19 | g.1496373G>A | CA402993772 | REEP6 | c.437G>A (p.Arg146Lys) c.253G>A c.221G>A (p.Arg74Lys) | |
| 19 | g.1496373G>C | CA9047573 | REEP6 | c.437G>C (p.Arg146Thr) c.253G>C c.221G>C (p.Arg74Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1496373G= | CA2317756634 | REEP6 | c.437G= (p.Arg146=) c.253G= c.221G= (p.Arg74=) | |
| 19 | g.1496373G>T | CA402993810 | REEP6 | c.437G>T (p.Arg146Met) c.253G>T c.221G>T (p.Arg74Met) | |
| 19 | g.1496374G>A | CA504731177 | REEP6 | c.438G>A (p.Arg146=) c.254G>A c.222G>A (p.Arg74=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.1496374G>C | CA402993811 | REEP6 | c.438G>C (p.Arg146Ser) c.254G>C c.222G>C (p.Arg74Ser) | |
| 19 | g.1496374G= | CA2317756635 | REEP6 | c.438G= (p.Arg146=) c.254G= c.222G= (p.Arg74=) | |
| 19 | g.1496374G>T | CA402993812 | REEP6 | c.438G>T (p.Arg146Ser) c.254G>T c.222G>T (p.Arg74Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.1496375C>A | CA402993813 | REEP6 | c.439C>A (p.His147Asn) c.255C>A c.223C>A (p.His75Asn) | |
| 19 | g.1496375C= | CA2317756636 | REEP6 | c.439C= (p.His147=) c.255C= c.223C= (p.His75=) | |
| 19 | g.1496375C>G | CA402993814 | REEP6 | c.439C>G (p.His147Asp) c.255C>G c.223C>G (p.His75Asp) | |
| 19 | g.1496375C>T | CA402993815 | REEP6 | c.439C>T (p.His147Tyr) c.255C>T c.223C>T (p.His75Tyr) | dbSNP |
| 19 | g.1496376A= | CA2317756637 | REEP6 | c.440A= (p.His147=) c.256A= c.224A= (p.His75=) | |
| 19 | g.1496376A>C | CA402993816 | REEP6 | c.440A>C (p.His147Pro) c.256A>C c.224A>C (p.His75Pro) | dbSNP |
| 19 | g.1496376A>G | CA402993817 | REEP6 | c.440A>G (p.His147Arg) c.256A>G c.224A>G (p.His75Arg) | ClinVar |
| 19 | g.1496376A>T | CA402993818 | REEP6 | c.440A>T (p.His147Leu) c.256A>T c.224A>T (p.His75Leu) | |
| 19 | g.1496377C>A | CA402993820 | REEP6 | c.441C>A (p.His147Gln) c.257C>A c.225C>A (p.His75Gln) | |
| 19 | g.1496377C>G | CA402993819 | REEP6 | c.441C>G (p.His147Gln) c.257C>G c.225C>G (p.His75Gln) | |
| 19 | g.1496377C>T | CA504731187 | REEP6 | c.441C>T (p.His147=) c.257C>T c.225C>T (p.His75=) | |
| 19 | g.1496378C>A | CA402993821 | REEP6 | c.442C>A (p.His148Asn) c.258C>A c.226C>A (p.His76Asn) | |
| 19 | g.1496378C= | CA2317756638 | REEP6 | c.442C= (p.His148=) c.258C= c.226C= (p.His76=) | |
| 19 | g.1496378C>G | CA402993822 | REEP6 | c.442C>G (p.His148Asp) c.258C>G c.226C>G (p.His76Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.1496378C>T | CA402993827 | REEP6 | c.442C>T (p.His148Tyr) c.258C>T c.226C>T (p.His76Tyr) | |
| 19 | g.1496379A>C | CA402993831 | REEP6 | c.443A>C (p.His148Pro) c.259A>C c.227A>C (p.His76Pro) | |
| 19 | g.1496379A>G | CA402993835 | REEP6 | c.443A>G (p.His148Arg) c.259A>G c.227A>G (p.His76Arg) | gnomAD v4 |
| 19 | g.1496379A>T | CA402993836 | REEP6 | c.443A>T (p.His148Leu) c.259A>T c.227A>T (p.His76Leu) | |
| 19 | g.1496380C>A | CA402993842 | REEP6 | c.444C>A (p.His148Gln) c.260C>A c.228C>A (p.His76Gln) | gnomAD v4 |
| 19 | g.1496380C= | CA2317756639 | REEP6 | c.444C= (p.His148=) c.260C= c.228C= (p.His76=) | |
| 19 | g.1496380C>G | CA402993838 | REEP6 | c.444C>G (p.His148Gln) c.260C>G c.228C>G (p.His76Gln) | gnomAD v4 |
| 19 | g.1496380C>T | CA9047574 | REEP6 | c.444C>T (p.His148=) c.260C>T c.228C>T (p.His76=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.1496380_1496381delinsCG | CA2317756640 | REEP6 | c.444_445delinsCG (p.His148=) c.260_261delinsCG c.228_229delinsCG (p.His76=) | |
| 19 | g.1496381G>A | CA9047575 | REEP6 | c.445G>A (p.Gly149Arg) c.261G>A c.229G>A (p.Gly77Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1496381G>C | CA402993848 | REEP6 | c.445G>C (p.Gly149Arg) c.261G>C c.229G>C (p.Gly77Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1496381G= | CA2317756641 | REEP6 | c.445G= (p.Gly149=) c.261G= c.229G= (p.Gly77=) | |
| 19 | g.1496381G>T | CA402993852 | REEP6 | c.445G>T (p.Gly149Trp) c.261G>T c.229G>T (p.Gly77Trp) | |
| 19 | g.1496384del | CA16044054 | REEP6 | c.448del (p.Ala150ProfsTer2) c.264del c.232del (p.Ala78ProfsTer2) | ClinVar dbSNP gnomAD v4 |
| 19 | g.1496382G>A | CA402993856 | REEP6 | c.446G>A (p.Gly149Glu) c.262G>A c.230G>A (p.Gly77Glu) | ClinVar dbSNP gnomAD v4 |
| 19 | g.1496382G>C | CA402993858 | REEP6 | c.446G>C (p.Gly149Ala) c.262G>C c.230G>C (p.Gly77Ala) | |
| 19 | g.1496382G= | CA2317756642 | REEP6 | c.446G= (p.Gly149=) c.262G= c.230G= (p.Gly77=) | |
| 19 | g.1496382G>T | CA402993863 | REEP6 | c.446G>T (p.Gly149Val) c.262G>T c.230G>T (p.Gly77Val) | |
| 19 | g.1496383G>A | CA9047576 | REEP6 | c.447G>A (p.Gly149=) c.263G>A c.231G>A (p.Gly77=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.1496383G>C | CA504731215 | REEP6 | c.447G>C (p.Gly149=) c.263G>C c.231G>C (p.Gly77=) | ClinVar gnomAD v4 |
| 19 | g.1496383G= | CA2317756643 | REEP6 | c.447G= (p.Gly149=) c.263G= c.231G= (p.Gly77=) | |
| 19 | g.1496383G>T | CA504731216 | REEP6 | c.447G>T (p.Gly149=) c.263G>T c.231G>T (p.Gly77=) | gnomAD v4 |
| 19 | g.1496384G>A | CA402993866 | REEP6 | c.448G>A (p.Ala150Thr) c.264G>A c.232G>A (p.Ala78Thr) | gnomAD v4 |
| 19 | g.1496384G>C | CA402993871 | REEP6 | c.448G>C (p.Ala150Pro) c.264G>C c.232G>C (p.Ala78Pro) | |
| 19 | g.1496384G= | CA2317756644 | REEP6 | c.448G= (p.Ala150=) c.264G= c.232G= (p.Ala78=) | |
| 19 | g.1496384G>T | CA402993868 | REEP6 | c.448G>T (p.Ala150Ser) c.264G>T c.232G>T (p.Ala78Ser) | dbSNP gnomAD v4 |
| 19 | g.1496385C>A | CA9047577 | REEP6 | c.449C>A (p.Ala150Asp) c.265C>A c.233C>A (p.Ala78Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1496385C= | CA2317756645 | REEP6 | c.449C= (p.Ala150=) c.265C= c.233C= (p.Ala78=) | |
| 19 | g.1496385C>G | CA402993875 | REEP6 | c.449C>G (p.Ala150Gly) c.265C>G c.233C>G (p.Ala78Gly) | |
| 19 | g.1496385C>T | CA402993878 | REEP6 | c.449C>T (p.Ala150Val) c.265C>T c.233C>T (p.Ala78Val) | |
| 19 | g.1496386C>A | CA504731226 | REEP6 | c.450C>A (p.Ala150=) c.266C>A c.234C>A (p.Ala78=) | gnomAD v4 |
| 19 | g.1496386C= | CA2317756646 | REEP6 | c.450C= (p.Ala150=) c.266C= c.234C= (p.Ala78=) | |
| 19 | g.1496386C>G | CA9047579 | REEP6 | c.450C>G (p.Ala150=) c.266C>G c.234C>G (p.Ala78=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.1496386C>T | CA9047578 | REEP6 | c.450C>T (p.Ala150=) c.266C>T c.234C>T (p.Ala78=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1496387G>A | CA9047580 | REEP6 | c.451G>A (p.Val151Ile) c.267G>A c.235G>A (p.Val79Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1496387G>C | CA402993927 | REEP6 | c.451G>C (p.Val151Leu) c.267G>C c.235G>C (p.Val79Leu) | gnomAD v4 |
| 19 | g.1496387G= | CA2317756647 | REEP6 | c.451G= (p.Val151=) c.267G= c.235G= (p.Val79=) | |
| 19 | g.1496387G>T | CA402993929 | REEP6 | c.451G>T (p.Val151Leu) c.267G>T c.235G>T (p.Val79Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1496388T>A | CA402993942 | REEP6 | c.452T>A (p.Val151Glu) c.268T>A c.236T>A (p.Val79Glu) | |
| 19 | g.1496388T>C | CA402993963 | REEP6 | c.452T>C (p.Val151Ala) c.268T>C c.236T>C (p.Val79Ala) | |
| 19 | g.1496388T>G | CA402993964 | REEP6 | c.452T>G (p.Val151Gly) c.268T>G c.236T>G (p.Val79Gly) | |
| 19 | g.1496389A= | CA2317756648 | REEP6 | c.453A= (p.Val151=) c.269A= c.237A= (p.Val79=) | |
| 19 | g.1496389A>C | CA304053026 | REEP6 | c.453A>C (p.Val151=) c.269A>C c.237A>C (p.Val79=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1496389A>G | CA504731239 | REEP6 | c.453A>G (p.Val151=) c.269A>G c.237A>G (p.Val79=) | |
| 19 | g.1496389A>T | CA504731241 | REEP6 | c.453A>T (p.Val151=) c.269A>T c.237A>T (p.Val79=) | |
| 19 | g.1496390G>A | CA402993968 | REEP6 | c.454G>A (p.Asp152Asn) c.270G>A c.238G>A (p.Asp80Asn) | |
| 19 | g.1496390G>C | CA402993980 | REEP6 | c.454G>C (p.Asp152His) c.270G>C c.238G>C (p.Asp80His) | |
| 19 | g.1496390G>T | CA402993972 | REEP6 | c.454G>T (p.Asp152Tyr) c.270G>T c.238G>T (p.Asp80Tyr) | |
| 19 | g.1496391A= | CA2317756649 | REEP6 | c.455A= (p.Asp152=) c.271A= c.239A= (p.Asp80=) | |
| 19 | g.1496391A>C | CA402993982 | REEP6 | c.455A>C (p.Asp152Ala) c.271A>C c.239A>C (p.Asp80Ala) | |
| 19 | g.1496391A>G | CA9047581 | REEP6 | c.455A>G (p.Asp152Gly) c.271A>G c.239A>G (p.Asp80Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1496391A>T | CA402993984 | REEP6 | c.455A>T (p.Asp152Val) c.271A>T c.239A>T (p.Asp80Val) | |
| 19 | g.1496392C>A | CA402993986 | REEP6 | c.456C>A (p.Asp152Glu) c.272C>A c.240C>A (p.Asp80Glu) | |
| 19 | g.1496392C= | CA2317756650 | REEP6 | c.456C= (p.Asp152=) c.272C= c.240C= (p.Asp80=) | |
| 19 | g.1496392C>G | CA402993989 | REEP6 | c.456C>G (p.Asp152Glu) c.272C>G c.240C>G (p.Asp80Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1496392C>T | CA504731258 | REEP6 | c.456C>T (p.Asp152=) c.272C>T c.240C>T (p.Asp80=) | |
| 19 | g.1496393A= | CA2317756651 | REEP6 | c.457A= (p.Arg153=) c.273A= c.241A= (p.Arg81=) | |
| 19 | g.1496393A>C | CA504731260 | REEP6 | c.457A>C (p.Arg153=) c.273A>C c.241A>C (p.Arg81=) | |
| 19 | g.1496393A>G | CA9047582 | REEP6 | c.457A>G (p.Arg153Gly) c.273A>G c.241A>G (p.Arg81Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.1496393A>T | CA402993999 | REEP6 | c.457A>T (p.Arg153Ter) c.273A>T c.241A>T (p.Arg81Ter) | |
| 19 | g.1496394G>A | CA402994003 | REEP6 | c.458G>A (p.Arg153Lys) c.274G>A c.242G>A (p.Arg81Lys) | |
| 19 | g.1496394G>C | CA402994006 | REEP6 | c.458G>C (p.Arg153Thr) c.274G>C c.242G>C (p.Arg81Thr) | |
| 19 | g.1496394G>T | CA402994022 | REEP6 | c.458G>T (p.Arg153Ile) c.274G>T c.242G>T (p.Arg81Ile) | |
| 19 | g.1496395A= | CA2317756652 | REEP6 | c.459A= (p.Arg153=) c.275A= c.243A= (p.Arg81=) | |
| 19 | g.1496395A>C | CA402994028 | REEP6 | c.459A>C (p.Arg153Ser) c.275A>C c.243A>C (p.Arg81Ser) | |
| 19 | g.1496395A>G | CA504731265 | REEP6 | c.459A>G (p.Arg153=) c.275A>G c.243A>G (p.Arg81=) | |
| 19 | g.1496395A>T | CA402994032 | REEP6 | c.459A>T (p.Arg153Ser) c.275A>T c.243A>T (p.Arg81Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1496396A>C | CA402994037 | REEP6 | c.460A>C (p.Ile154Leu) c.276A>C c.244A>C (p.Ile82Leu) | |
| 19 | g.1496396A>G | CA402994036 | REEP6 | c.460A>G (p.Ile154Val) c.276A>G c.244A>G (p.Ile82Val) | |
| 19 | g.1496396A>T | CA402994035 | REEP6 | c.460A>T (p.Ile154Phe) c.276A>T c.244A>T (p.Ile82Phe) | |
| 19 | g.1496397T>A | CA402994041 | REEP6 | c.461T>A (p.Ile154Asn) c.277T>A c.245T>A (p.Ile82Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.1496397T>C | CA402994051 | REEP6 | c.461T>C (p.Ile154Thr) c.277T>C c.245T>C (p.Ile82Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.1496397T>G | CA402994054 | REEP6 | c.461T>G (p.Ile154Ser) c.277T>G c.245T>G (p.Ile82Ser) | |
| 19 | g.1496397T= | CA2317756653 | REEP6 | c.461T= (p.Ile154=) c.277T= c.245T= (p.Ile82=) | |
| 19 | g.1496398C>A | CA504731281 | REEP6 | c.462C>A (p.Ile154=) c.278C>A c.246C>A (p.Ile82=) | |
| 19 | g.1496398C>G | CA402994060 | REEP6 | c.462C>G (p.Ile154Met) c.278C>G c.246C>G (p.Ile82Met) | |
| 19 | g.1496398C>T | CA504731277 | REEP6 | c.462C>T (p.Ile154=) c.278C>T c.246C>T (p.Ile82=) | |
| 19 | g.1496399A= | CA2317756654 | REEP6 | c.463A= (p.Met155=) c.279A= c.247A= (p.Met83=) | |
| 19 | g.1496399A>C | CA402994066 | REEP6 | c.463A>C (p.Met155Leu) c.279A>C c.247A>C (p.Met83Leu) | |
| 19 | g.1496399A>G | CA402994070 | REEP6 | c.463A>G (p.Met155Val) c.279A>G c.247A>G (p.Met83Val) | dbSNP COSMIC COSMIC |
| 19 | g.1496399A>T | CA402994073 | REEP6 | c.463A>T (p.Met155Leu) c.279A>T c.247A>T (p.Met83Leu) | |
| 19 | g.1496400T>A | CA402994077 | REEP6 | c.464T>A (p.Met155Lys) c.280T>A c.248T>A (p.Met83Lys) | |
| 19 | g.1496400T>C | CA402994081 | REEP6 | c.464T>C (p.Met155Thr) c.280T>C c.248T>C (p.Met83Thr) | gnomAD v4 |
| 19 | g.1496400T>G | CA402994085 | REEP6 | c.464T>G (p.Met155Arg) c.280T>G c.248T>G (p.Met83Arg) | |
| 19 | g.1496401G>A | CA402994089 | REEP6 | c.465G>A (p.Met155Ile) c.281G>A c.249G>A (p.Met83Ile) | |
| 19 | g.1496401G>C | CA9047583 | REEP6 | c.465G>C (p.Met155Ile) c.281G>C c.249G>C (p.Met83Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1496401G= | CA2317756655 | REEP6 | c.465G= (p.Met155=) c.281G= c.249G= (p.Met83=) | |
| 19 | g.1496401G>T | CA402994100 | REEP6 | c.465G>T (p.Met155Ile) c.281G>T c.249G>T (p.Met83Ile) | |
| 19 | g.1496402A>C | CA402994109 | REEP6 | c.466A>C (p.Asn156His) c.282A>C c.250A>C (p.Asn84His) | |
| 19 | g.1496402A>G | CA402994112 | REEP6 | c.466A>G (p.Asn156Asp) c.282A>G c.250A>G (p.Asn84Asp) | |
| 19 | g.1496402A>T | CA402994104 | REEP6 | c.466A>T (p.Asn156Tyr) c.282A>T c.250A>T (p.Asn84Tyr) | |
| 19 | g.1496403A>C | CA402994114 | REEP6 | c.467A>C (p.Asn156Thr) c.283A>C c.251A>C (p.Asn84Thr) | |
| 19 | g.1496403A>G | CA402994113 | REEP6 | c.467A>G (p.Asn156Ser) c.283A>G c.251A>G (p.Asn84Ser) | |
| 19 | g.1496403A>T | CA402994115 | REEP6 | c.467A>T (p.Asn156Ile) c.283A>T c.251A>T (p.Asn84Ile) | |
| 19 | g.1496404del | CA2695227969 | REEP6 | c.468del (p.Asn156LysfsTer14) c.284del c.252del (p.Asn84LysfsTer14) | |
| 19 | g.1496404C>A | CA402994116 | REEP6 | c.468C>A (p.Asn156Lys) c.284C>A c.252C>A (p.Asn84Lys) | |
| 19 | g.1496404C= | CA2317756656 | REEP6 | c.468C= (p.Asn156=) c.284C= c.252C= (p.Asn84=) | |
| 19 | g.1496404C>G | CA402994118 | REEP6 | c.468C>G (p.Asn156Lys) c.284C>G c.252C>G (p.Asn84Lys) | |
| 19 | g.1496404C>T | CA9047584 | REEP6 | c.468C>T (p.Asn156=) c.284C>T c.252C>T (p.Asn84=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1496405del | CA992530779 | REEP6 | c.469del (p.Asp157ThrfsTer13) c.285del c.253del (p.Asp85ThrfsTer13) | gnomAD v3 gnomAD v4 |
| 19 | g.1496405G>A | CA9047585 | REEP6 | c.469G>A (p.Asp157Asn) c.285G>A c.253G>A (p.Asp85Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1496405G>C | CA402994120 | REEP6 | c.469G>C (p.Asp157His) c.285G>C c.253G>C (p.Asp85His) | gnomAD v4 |
| 19 | g.1496405G= | CA2317756657 | REEP6 | c.469G= (p.Asp157=) c.285G= c.253G= (p.Asp85=) | |
| 19 | g.1496405G>T | CA402994119 | REEP6 | c.469G>T (p.Asp157Tyr) c.285G>T c.253G>T (p.Asp85Tyr) | |
| 19 | g.1496406A= | CA2317756658 | REEP6 | c.470A= (p.Asp157=) c.286A= c.254A= (p.Asp85=) | |
| 19 | g.1496406A>C | CA402994122 | REEP6 | c.470A>C (p.Asp157Ala) c.286A>C c.254A>C (p.Asp85Ala) | dbSNP |
| 19 | g.1496406A>G | CA402994128 | REEP6 | c.470A>G (p.Asp157Gly) c.286A>G c.254A>G (p.Asp85Gly) | |
| 19 | g.1496406A>T | CA402994123 | REEP6 | c.470A>T (p.Asp157Val) c.286A>T c.254A>T (p.Asp85Val) | |
| 19 | g.1496407C>A | CA402994131 | REEP6 | c.471C>A (p.Asp157Glu) c.287C>A c.255C>A (p.Asp85Glu) | |
| 19 | g.1496407C>G | CA402994132 | REEP6 | c.471C>G (p.Asp157Glu) c.287C>G c.255C>G (p.Asp85Glu) | |
| 19 | g.1496407C>T | CA504731319 | REEP6 | c.471C>T (p.Asp157=) c.287C>T c.255C>T (p.Asp85=) | |
| 19 | g.1496408C>A | CA402994133 | REEP6 | c.472C>A (p.Leu158Ile) c.288C>A c.256C>A (p.Leu86Ile) | |
| 19 | g.1496408C= | CA2317756659 | REEP6 | c.472C= (p.Leu158=) c.288C= c.256C= (p.Leu86=) | |
| 19 | g.1496408C>G | CA402994136 | REEP6 | c.472C>G (p.Leu158Val) c.288C>G c.256C>G (p.Leu86Val) | |
| 19 | g.1496408C>T | CA402994139 | REEP6 | c.472C>T (p.Leu158Phe) c.288C>T c.256C>T (p.Leu86Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1496409T>A | CA402994151 | REEP6 | c.473T>A (p.Leu158His) c.289T>A c.257T>A (p.Leu86His) | |
| 19 | g.1496409T>C | CA402994147 | REEP6 | c.473T>C (p.Leu158Pro) c.289T>C c.257T>C (p.Leu86Pro) | |
| 19 | g.1496409T>G | CA402994142 | REEP6 | c.473T>G (p.Leu158Arg) c.289T>G c.257T>G (p.Leu86Arg) | gnomAD v4 |
| 19 | g.1496410C>A | CA504731329 | REEP6 | c.474C>A (p.Leu158=) c.290C>A c.258C>A (p.Leu86=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.1496410C= | CA2317756660 | REEP6 | c.474C= (p.Leu158=) c.290C= c.258C= (p.Leu86=) | |
| 19 | g.1496410C>G | CA504731331 | REEP6 | c.474C>G (p.Leu158=) c.290C>G c.258C>G (p.Leu86=) | |
| 19 | g.1496410C>T | CA504731334 | REEP6 | c.474C>T (p.Leu158=) c.290C>T c.258C>T (p.Leu86=) | gnomAD v4 |
| 19 | g.1496411A>C | CA402994158 | REEP6 | c.475A>C (p.Ser159Arg) c.291A>C c.259A>C (p.Ser87Arg) | |
| 19 | g.1496411A>G | CA402994164 | REEP6 | c.475A>G (p.Ser159Gly) c.291A>G c.259A>G (p.Ser87Gly) | |
| 19 | g.1496411A>T | CA402994166 | REEP6 | c.475A>T (p.Ser159Cys) c.291A>T c.259A>T (p.Ser87Cys) | |
| 19 | g.1496412G>A | CA9047586 | REEP6 | c.476G>A (p.Ser159Asn) c.292G>A c.260G>A (p.Ser87Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1496412G>C | CA402994170 | REEP6 | c.476G>C (p.Ser159Thr) c.292G>C c.260G>C (p.Ser87Thr) | |
| 19 | g.1496412G= | CA2317756661 | REEP6 | c.476G= (p.Ser159=) c.292G= c.260G= (p.Ser87=) | |
| 19 | g.1496412G>T | CA402994171 | REEP6 | c.476G>T (p.Ser159Ile) c.292G>T c.260G>T (p.Ser87Ile) | |
| 19 | g.1496413C>A | CA402994172 | REEP6 | c.477C>A (p.Ser159Arg) c.293C>A c.261C>A (p.Ser87Arg) | |
| 19 | g.1496413C= | CA2317756662 | REEP6 | c.477C= (p.Ser159=) c.293C= c.261C= (p.Ser87=) | |
| 19 | g.1496413C>G | CA402994175 | REEP6 | c.477C>G (p.Ser159Arg) c.293C>G c.261C>G (p.Ser87Arg) | |
| 19 | g.1496413C>T | CA9047587 | REEP6 | c.477C>T (p.Ser159=) c.293C>T c.261C>T (p.Ser87=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1496414G>A | CA402994179 | REEP6 | c.478G>A (p.Gly160Arg) c.294G>A c.262G>A (p.Gly88Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1496414G>C | CA9047588 | REEP6 | c.478G>C (p.Gly160Arg) c.294G>C c.262G>C (p.Gly88Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1496414G= | CA2317756663 | REEP6 | c.478G= (p.Gly160=) c.294G= c.262G= (p.Gly88=) | |
| 19 | g.1496414G>T | CA402994180 | REEP6 | c.478G>T (p.Gly160Trp) c.294G>T c.262G>T (p.Gly88Trp) | gnomAD v4 |
| 19 | g.1496414_1496416del | CA2509692534 | REEP6 | c.478_480del (p.Gly160del) c.294_296del c.262_264del (p.Gly88del) | |
| 19 | g.1496415G>A | CA402994181 | REEP6 | c.479G>A (p.Gly160Glu) c.295G>A c.263G>A (p.Gly88Glu) | dbSNP |
| 19 | g.1496415G>C | CA402994183 | REEP6 | c.479G>C (p.Gly160Ala) c.295G>C c.263G>C (p.Gly88Ala) | |
| 19 | g.1496415G= | CA2317756664 | REEP6 | c.479G= (p.Gly160=) c.295G= c.263G= (p.Gly88=) | |
| 19 | g.1496415G>T | CA402994201 | REEP6 | c.479G>T (p.Gly160Val) c.295G>T c.263G>T (p.Gly88Val) | |
| 19 | g.1496416G>A | CA504731360 | REEP6 | c.480G>A (p.Gly160=) c.296G>A c.264G>A (p.Gly88=) | |
| 19 | g.1496416G>C | CA504731364 | REEP6 | c.480G>C (p.Gly160=) c.296G>C c.264G>C (p.Gly88=) | |
| 19 | g.1496416G>T | CA504731362 | REEP6 | c.480G>T (p.Gly160=) c.296G>T c.264G>T (p.Gly88=) | |
| 19 | g.1496417C>A | CA504731365 | REEP6 | c.481C>A (p.Arg161=) c.297C>A c.265C>A (p.Arg89=) | gnomAD v4 |
| 19 | g.1496417C= | CA2317756665 | REEP6 | c.481C= (p.Arg161=) c.297C= c.265C= (p.Arg89=) | |
| 19 | g.1496417C>G | CA402994204 | REEP6 | c.481C>G (p.Arg161Gly) c.297C>G c.265C>G (p.Arg89Gly) | |
| 19 | g.1496417C>T | CA9047589 | REEP6 | c.481C>T (p.Arg161Ter) c.297C>T c.265C>T (p.Arg89Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1496418G>A | CA9047590 | REEP6 | c.482G>A (p.Arg161Gln) c.298G>A c.266G>A (p.Arg89Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1496418G>C | CA402994220 | REEP6 | c.482G>C (p.Arg161Pro) c.298G>C c.266G>C (p.Arg89Pro) | gnomAD v4 |
| 19 | g.1496418G= | CA2317756666 | REEP6 | c.482G= (p.Arg161=) c.298G= c.266G= (p.Arg89=) | |
| 19 | g.1496418G>T | CA402994224 | REEP6 | c.482G>T (p.Arg161Leu) c.298G>T c.266G>T (p.Arg89Leu) | |
| 19 | g.1496419_1496420del | CA2502826957 | REEP6 | c.483_484del (p.Ala162ProfsTer?) c.483_484del (p.Ala162ProfsTer18) c.299_300del c.267_268del (p.Ala90ProfsTer18) | |
| 19 | g.1496419A>C | CA504731374 | REEP6 | c.483A>C (p.Arg161=) c.299A>C c.267A>C (p.Arg89=) | |
| 19 | g.1496419A>G | CA504731378 | REEP6 | c.483A>G (p.Arg161=) c.299A>G c.267A>G (p.Arg89=) | dbSNP |
| 19 | g.1496419A>T | CA504731376 | REEP6 | c.483A>T (p.Arg161=) c.299A>T c.267A>T (p.Arg89=) | |
| 19 | g.1496420G>A | CA402994225 | REEP6 | c.484G>A (p.Ala162Thr) c.300G>A c.268G>A (p.Ala90Thr) | |
| 19 | g.1496420G>C | CA402994227 | REEP6 | c.484G>C (p.Ala162Pro) c.300G>C c.268G>C (p.Ala90Pro) | |
| 19 | g.1496420G>T | CA402994226 | REEP6 | c.484G>T (p.Ala162Ser) c.300G>T c.268G>T (p.Ala90Ser) | |
| 19 | g.1496421C>A | CA402994231 | REEP6 | c.485C>A (p.Ala162Asp) c.301C>A c.269C>A (p.Ala90Asp) | |
| 19 | g.1496421C>G | CA402994233 | REEP6 | c.485C>G (p.Ala162Gly) c.301C>G c.269C>G (p.Ala90Gly) | |
| 19 | g.1496421C>T | CA402994236 | REEP6 | c.485C>T (p.Ala162Val) c.301C>T c.269C>T (p.Ala90Val) | ClinVar |
| 19 | g.1496422C>A | CA504731389 | REEP6 | c.486C>A (p.Ala162=) c.302C>A c.270C>A (p.Ala90=) | |
| 19 | g.1496422C>G | CA504731391 | REEP6 | c.486C>G (p.Ala162=) c.302C>G c.270C>G (p.Ala90=) | |
| 19 | g.1496422C>T | CA504731394 | REEP6 | c.486C>T (p.Ala162=) c.302C>T c.270C>T (p.Ala90=) | dbSNP gnomAD v4 |
| 19 | g.1496423C>A | CA402994257 | REEP6 | c.487C>A (p.Leu163Met) c.303C>A c.271C>A (p.Leu91Met) | |
| 19 | g.1496423C= | CA2317756667 | REEP6 | c.487C= (p.Leu163=) c.303C= c.271C= (p.Leu91=) | |
| 19 | g.1496423C>G | CA402994262 | REEP6 | c.487C>G (p.Leu163Val) c.303C>G c.271C>G (p.Leu91Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1496423C>T | CA504731399 | REEP6 | c.487C>T (p.Leu163=) c.303C>T c.271C>T (p.Leu91=) | gnomAD v4 |
| 19 | g.1496424T>A | CA402994265 | REEP6 | c.488T>A (p.Leu163Gln) c.304T>A c.272T>A (p.Leu91Gln) | |
| 19 | g.1496424T>C | CA402994268 | REEP6 | c.488T>C (p.Leu163Pro) c.304T>C c.272T>C (p.Leu91Pro) | dbSNP |
| 19 | g.1496424T>G | CA304053091 | REEP6 | c.488T>G (p.Leu163Arg) c.304T>G c.272T>G (p.Leu91Arg) | dbSNP |
| 19 | g.1496424T= | CA2317756668 | REEP6 | c.488T= (p.Leu163=) c.304T= c.272T= (p.Leu91=) | |
| 19 | g.1496425G>A | CA504731407 | REEP6 | c.489G>A (p.Leu163=) c.305G>A c.273G>A (p.Leu91=) | |
| 19 | g.1496425G>C | CA504731410 | REEP6 | c.489G>C (p.Leu163=) c.305G>C c.273G>C (p.Leu91=) | |
| 19 | g.1496425G>T | CA504731412 | REEP6 | c.489G>T (p.Leu163=) c.305G>T c.273G>T (p.Leu91=) | |
| 19 | g.1496426G>A | CA402994275 | REEP6 | c.490G>A (p.Asp164Asn) c.306G>A c.274G>A (p.Asp92Asn) | |
| 19 | g.1496426G>C | CA402994283 | REEP6 | c.490G>C (p.Asp164His) c.306G>C c.274G>C (p.Asp92His) | |
| 19 | g.1496426G>T | CA402994285 | REEP6 | c.490G>T (p.Asp164Tyr) c.306G>T c.274G>T (p.Asp92Tyr) | |
| 19 | g.1496427A>C | CA402994298 | REEP6 | c.491A>C (p.Asp164Ala) c.307A>C c.275A>C (p.Asp92Ala) | |
| 19 | g.1496427A>G | CA402994290 | REEP6 | c.491A>G (p.Asp164Gly) c.307A>G c.275A>G (p.Asp92Gly) | |
| 19 | g.1496427A>T | CA402994296 | REEP6 | c.491A>T (p.Asp164Val) c.307A>T c.275A>T (p.Asp92Val) | |
| 19 | g.1496428C>A | CA402994300 | REEP6 | c.492C>A (p.Asp164Glu) c.308C>A c.276C>A (p.Asp92Glu) | |
| 19 | g.1496428C= | CA2317756669 | REEP6 | c.492C= (p.Asp164=) c.308C= c.276C= (p.Asp92=) | |
| 19 | g.1496428C>G | CA402994305 | REEP6 | c.492C>G (p.Asp164Glu) c.308C>G c.276C>G (p.Asp92Glu) | |
| 19 | g.1496428C>T | CA9047591 | REEP6 | c.492C>T (p.Asp164=) c.308C>T c.276C>T (p.Asp92=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1496429G>A | CA9047592 | REEP6 | c.493G>A (p.Ala165Thr) c.309G>A c.277G>A (p.Ala93Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.1496429G>C | CA402994312 | REEP6 | c.493G>C (p.Ala165Pro) c.309G>C c.277G>C (p.Ala93Pro) | |
| 19 | g.1496429G= | CA2317756670 | REEP6 | c.493G= (p.Ala165=) c.309G= c.277G= (p.Ala93=) | |
| 19 | g.1496429G>T | CA402994317 | REEP6 | c.493G>T (p.Ala165Ser) c.309G>T c.277G>T (p.Ala93Ser) | gnomAD v4 |
| 19 | g.1496430C>A | CA402994319 | REEP6 | c.494C>A (p.Ala165Glu) c.310C>A c.278C>A (p.Ala93Glu) | gnomAD v4 COSMIC COSMIC |
| 19 | g.1496430C= | CA2317756671 | REEP6 | c.494C= (p.Ala165=) c.310C= c.278C= (p.Ala93=) | |
| 19 | g.1496430C>G | CA402994320 | REEP6 | c.494C>G (p.Ala165Gly) c.310C>G c.278C>G (p.Ala93Gly) | |
| 19 | g.1496430C>T | CA9047593 | REEP6 | c.494C>T (p.Ala165Val) c.310C>T c.278C>T (p.Ala93Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1496430_1496431insTT | CA2583000725 | REEP6 | c.494_495insTT (p.Ala166TrpfsTer5) c.310_311insTT c.278_279insTT (p.Ala94TrpfsTer5) | gnomAD v4 |
| 19 | g.1496431G>A | CA9047594 | REEP6 | c.495G>A (p.Ala165=) c.311G>A c.279G>A (p.Ala93=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1496431G>C | CA9047595 | REEP6 | c.495G>C (p.Ala165=) c.311G>C c.279G>C (p.Ala93=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1496431G= | CA2317756672 | REEP6 | c.495G= (p.Ala165=) c.311G= c.279G= (p.Ala93=) | |
| 19 | g.1496431G>T | CA504731443 | REEP6 | c.495G>T (p.Ala165=) c.311G>T c.279G>T (p.Ala93=) | gnomAD v4 |
| 19 | g.1496432G>A | CA402994333 | REEP6 | c.496G>A (p.Ala166Thr) c.312G>A c.280G>A (p.Ala94Thr) | |
| 19 | g.1496432G>C | CA402994337 | REEP6 | c.496G>C (p.Ala166Pro) c.312G>C c.280G>C (p.Ala94Pro) | |
| 19 | g.1496432G>T | CA402994324 | REEP6 | c.496G>T (p.Ala166Ser) c.312G>T c.280G>T (p.Ala94Ser) |