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 |
|---|---|---|---|---|---|
| X | g.129558889_129563134del | CA347331 | OCRL | c.*902_*1536+348del c.727_1361+348del c.610_1244+348del c.658_1292+348del c.261_895+348del c.139_773+348del c.613_1247+348del c.466_1100+348del | ClinVar |
| X | g.129562566G>A | CA644164359 | OCRL | c.*1349-33G>A (n.*1349-33G>A) c.1174-33G>A c.1057-33G>A (n.1057-33G>A) c.1105-33G>A c.168-33G>A c.708-33G>A c.586-33G>A (n.586-33G>A) c.1060-33G>A (n.1060-33G>A) c.913-33G>A (n.913-33G>A) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.129562566G= | CA2458099485 | OCRL | c.*1349-33G= (n.*1349-33G=) c.1174-33G= c.1057-33G= (n.1057-33G=) c.1105-33G= c.168-33G= c.708-33G= c.586-33G= (n.586-33G=) c.1060-33G= (n.1060-33G=) c.913-33G= (n.913-33G=) | |
| X | g.129562566G>T | CA10512131 | OCRL | c.*1349-33G>T (n.*1349-33G>T) c.1174-33G>T c.1057-33G>T (n.1057-33G>T) c.1105-33G>T c.168-33G>T c.708-33G>T c.586-33G>T (n.586-33G>T) c.1060-33G>T (n.1060-33G>T) c.913-33G>T (n.913-33G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.129562568G>A | CA2694654007 | OCRL | c.*1349-31G>A (n.*1349-31G>A) c.1174-31G>A c.1057-31G>A (n.1057-31G>A) c.1105-31G>A c.168-31G>A c.708-31G>A c.586-31G>A (n.586-31G>A) c.1060-31G>A (n.1060-31G>A) c.913-31G>A (n.913-31G>A) | gnomAD v4 |
| X | g.129562570A>G | CA2694654010 | OCRL | c.*1349-29A>G (n.*1349-29A>G) c.1174-29A>G c.1057-29A>G (n.1057-29A>G) c.1105-29A>G c.168-29A>G c.708-29A>G c.586-29A>G (n.586-29A>G) c.1060-29A>G (n.1060-29A>G) c.913-29A>G (n.913-29A>G) | gnomAD v4 |
| X | g.129562570A>T | CA2694654011 | OCRL | c.*1349-29A>T (n.*1349-29A>T) c.1174-29A>T c.1057-29A>T (n.1057-29A>T) c.1105-29A>T c.168-29A>T c.708-29A>T c.586-29A>T (n.586-29A>T) c.1060-29A>T (n.1060-29A>T) c.913-29A>T (n.913-29A>T) | gnomAD v4 |
| X | g.129562571C>A | CA644164360 | OCRL | c.*1349-28C>A (n.*1349-28C>A) c.1174-28C>A c.1057-28C>A (n.1057-28C>A) c.1105-28C>A c.168-28C>A c.708-28C>A c.586-28C>A (n.586-28C>A) c.1060-28C>A (n.1060-28C>A) c.913-28C>A (n.913-28C>A) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.129562571C= | CA2458099486 | OCRL | c.*1349-28C= (n.*1349-28C=) c.1174-28C= c.1057-28C= (n.1057-28C=) c.1105-28C= c.168-28C= c.708-28C= c.586-28C= (n.586-28C=) c.1060-28C= (n.1060-28C=) c.913-28C= (n.913-28C=) | |
| X | g.129562573A>G | CA2694654012 | OCRL | c.*1349-26A>G (n.*1349-26A>G) c.1174-26A>G c.1057-26A>G (n.1057-26A>G) c.1105-26A>G c.168-26A>G c.708-26A>G c.586-26A>G (n.586-26A>G) c.1060-26A>G (n.1060-26A>G) c.913-26A>G (n.913-26A>G) | gnomAD v4 |
| X | g.129562574_129562575insC | CA2569466666 | OCRL | c.*1349-25_*1349-24insC (n.*1349-25_*1349-24insC) c.1174-25_1174-24insC c.1057-25_1057-24insC (n.1057-25_1057-24insC) c.1105-25_1105-24insC c.168-25_168-24insC c.708-25_708-24insC c.586-25_586-24insC (n.586-25_586-24insC) c.1060-25_1060-24insC (n.1060-25_1060-24insC) c.913-25_913-24insC (n.913-25_913-24insC) | |
| X | g.129562575T>C | CA871420062 | OCRL | c.*1349-24T>C (n.*1349-24T>C) c.1174-24T>C c.1057-24T>C (n.1057-24T>C) c.1105-24T>C c.168-24T>C c.708-24T>C c.586-24T>C (n.586-24T>C) c.1060-24T>C (n.1060-24T>C) c.913-24T>C (n.913-24T>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.129562575T= | CA2458099487 | OCRL | c.*1349-24T= (n.*1349-24T=) c.1174-24T= c.1057-24T= (n.1057-24T=) c.1105-24T= c.168-24T= c.708-24T= c.586-24T= (n.586-24T=) c.1060-24T= (n.1060-24T=) c.913-24T= (n.913-24T=) | |
| X | g.129562575_129562576insG | CA2508961360 | OCRL | c.*1349-24_*1349-23insG (n.*1349-24_*1349-23insG) c.1174-24_1174-23insG c.1057-24_1057-23insG (n.1057-24_1057-23insG) c.1105-24_1105-23insG c.168-24_168-23insG c.708-24_708-23insG c.586-24_586-23insG (n.586-24_586-23insG) c.1060-24_1060-23insG (n.1060-24_1060-23insG) c.913-24_913-23insG (n.913-24_913-23insG) | |
| X | g.129562576T>G | CA2694654015 | OCRL | c.*1349-23T>G (n.*1349-23T>G) c.1174-23T>G c.1057-23T>G (n.1057-23T>G) c.1105-23T>G c.168-23T>G c.708-23T>G c.586-23T>G (n.586-23T>G) c.1060-23T>G (n.1060-23T>G) c.913-23T>G (n.913-23T>G) | gnomAD v4 |
| X | g.129562579A= | CA2458099488 | OCRL | c.*1349-20A= (n.*1349-20A=) c.1174-20A= c.1057-20A= (n.1057-20A=) c.1105-20A= c.168-20A= c.708-20A= c.586-20A= (n.586-20A=) c.1060-20A= (n.1060-20A=) c.913-20A= (n.913-20A=) | |
| X | g.129562579A>G | CA2458099489 | OCRL | c.*1349-20A>G (n.*1349-20A>G) c.1174-20A>G c.1057-20A>G (n.1057-20A>G) c.1105-20A>G c.168-20A>G c.708-20A>G c.586-20A>G (n.586-20A>G) c.1060-20A>G (n.1060-20A>G) c.913-20A>G (n.913-20A>G) | dbSNP |
| X | g.129562580T>C | CA2697544756 | OCRL | c.*1349-19T>C (n.*1349-19T>C) c.1174-19T>C c.1057-19T>C (n.1057-19T>C) c.1105-19T>C c.168-19T>C c.708-19T>C c.586-19T>C (n.586-19T>C) c.1060-19T>C (n.1060-19T>C) c.913-19T>C (n.913-19T>C) | ClinVar |
| X | g.129562581A= | CA2458099490 | OCRL | c.*1349-18A= (n.*1349-18A=) c.1174-18A= c.1057-18A= (n.1057-18A=) c.1105-18A= c.168-18A= c.708-18A= c.586-18A= (n.586-18A=) c.1060-18A= (n.1060-18A=) c.913-18A= (n.913-18A=) | |
| X | g.129562581A>G | CA644575785 | OCRL | c.*1349-18A>G (n.*1349-18A>G) c.1174-18A>G c.1057-18A>G (n.1057-18A>G) c.1105-18A>G c.168-18A>G c.708-18A>G c.586-18A>G (n.586-18A>G) c.1060-18A>G (n.1060-18A>G) c.913-18A>G (n.913-18A>G) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.129562585A>T | CA2579697913 | OCRL | c.*1349-14A>T (n.*1349-14A>T) c.1174-14A>T c.1057-14A>T (n.1057-14A>T) c.1105-14A>T c.168-14A>T c.708-14A>T c.586-14A>T (n.586-14A>T) c.1060-14A>T (n.1060-14A>T) c.913-14A>T (n.913-14A>T) | |
| X | g.129562586C>A | CA2697544757 | OCRL | c.*1349-13C>A (n.*1349-13C>A) c.1174-13C>A c.1057-13C>A (n.1057-13C>A) c.1105-13C>A c.168-13C>A c.708-13C>A c.586-13C>A (n.586-13C>A) c.1060-13C>A (n.1060-13C>A) c.913-13C>A (n.913-13C>A) | ClinVar |
| X | g.129562592C>A | CA644575786 | OCRL | c.*1349-7C>A (n.*1349-7C>A) c.1174-7C>A c.1057-7C>A (n.1057-7C>A) c.1105-7C>A c.168-7C>A c.708-7C>A c.586-7C>A (n.586-7C>A) c.1060-7C>A (n.1060-7C>A) c.913-7C>A (n.913-7C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.129562592C= | CA2458099491 | OCRL | c.*1349-7C= (n.*1349-7C=) c.1174-7C= c.1057-7C= (n.1057-7C=) c.1105-7C= c.168-7C= c.708-7C= c.586-7C= (n.586-7C=) c.1060-7C= (n.1060-7C=) c.913-7C= (n.913-7C=) | |
| X | g.129562592C>G | CA335086099 | OCRL | c.*1349-7C>G (n.*1349-7C>G) c.1174-7C>G c.1057-7C>G (n.1057-7C>G) c.1105-7C>G c.168-7C>G c.708-7C>G c.586-7C>G (n.586-7C>G) c.1060-7C>G (n.1060-7C>G) c.913-7C>G (n.913-7C>G) | dbSNP gnomAD v4 |
| X | g.129562593T>G | CA644575787 | OCRL | c.*1349-6T>G (n.*1349-6T>G) c.1174-6T>G c.1057-6T>G (n.1057-6T>G) c.1105-6T>G c.168-6T>G c.708-6T>G c.586-6T>G (n.586-6T>G) c.1060-6T>G (n.1060-6T>G) c.913-6T>G (n.913-6T>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.129562593T= | CA2458099492 | OCRL | c.*1349-6T= (n.*1349-6T=) c.1174-6T= c.1057-6T= (n.1057-6T=) c.1105-6T= c.168-6T= c.708-6T= c.586-6T= (n.586-6T=) c.1060-6T= (n.1060-6T=) c.913-6T= (n.913-6T=) | |
| X | g.129562597A>C | CA414552712 | OCRL | c.*1349-2A>C (n.*1349-2A>C) c.1174-2A>C c.1057-2A>C (n.1057-2A>C) c.1105-2A>C c.168-2A>C c.708-2A>C c.586-2A>C (n.586-2A>C) c.1060-2A>C (n.1060-2A>C) c.913-2A>C (n.913-2A>C) | |
| X | g.129562597A>G | CA414552713 | OCRL | c.*1349-2A>G (n.*1349-2A>G) c.1174-2A>G c.1057-2A>G (n.1057-2A>G) c.1105-2A>G c.168-2A>G c.708-2A>G c.586-2A>G (n.586-2A>G) c.1060-2A>G (n.1060-2A>G) c.913-2A>G (n.913-2A>G) | |
| X | g.129562597A>T | CA414552714 | OCRL | c.*1349-2A>T (n.*1349-2A>T) c.1174-2A>T c.1057-2A>T (n.1057-2A>T) c.1105-2A>T c.168-2A>T c.708-2A>T c.586-2A>T (n.586-2A>T) c.1060-2A>T (n.1060-2A>T) c.913-2A>T (n.913-2A>T) | |
| X | g.129562597_129562598del | CA2740092273 | OCRL | c.*1349-2_*1349-1del (n.*1349-2_*1349-1del) c.1174-2_1174-1del c.1057-2_1057-1del (n.1057-2_1057-1del) c.1105-2_1105-1del c.168-2_168-1del c.708-2_708-1del c.586-2_586-1del (n.586-2_586-1del) c.1060-2_1060-1del (n.1060-2_1060-1del) c.913-2_913-1del (n.913-2_913-1del) | ClinVar |
| X | g.129562598G>A | CA414552715 | OCRL | c.*1349-1G>A (n.*1349-1G>A) c.1174-1G>A c.1057-1G>A (n.1057-1G>A) c.1105-1G>A c.168-1G>A c.708-1G>A c.586-1G>A (n.586-1G>A) c.1060-1G>A (n.1060-1G>A) c.913-1G>A (n.913-1G>A) | |
| X | g.129562598G>C | CA414552716 | OCRL | c.*1349-1G>C (n.*1349-1G>C) c.1174-1G>C c.1057-1G>C (n.1057-1G>C) c.1105-1G>C c.168-1G>C c.708-1G>C c.586-1G>C (n.586-1G>C) c.1060-1G>C (n.1060-1G>C) c.913-1G>C (n.913-1G>C) | |
| X | g.129562598G>T | CA414552717 | OCRL | c.*1349-1G>T (n.*1349-1G>T) c.1174-1G>T c.1057-1G>T (n.1057-1G>T) c.1105-1G>T c.168-1G>T c.708-1G>T c.586-1G>T (n.586-1G>T) c.1060-1G>T (n.1060-1G>T) c.913-1G>T (n.913-1G>T) | |
| X | g.129562599G>A | CA414552720 | OCRL | c.*1349G>A (n.*1349G>A) c.1174G>A c.1057G>A (p.Gly353Arg) c.1105G>A c.168G>A c.708G>A c.586G>A (p.Gly196Arg) c.1060G>A (p.Gly354Arg) c.913G>A (p.Gly305Arg) | |
| X | g.129562599G>C | CA414552719 | OCRL | c.*1349G>C (n.*1349G>C) c.1174G>C c.1057G>C (p.Gly353Arg) c.1105G>C c.168G>C c.708G>C c.586G>C (p.Gly196Arg) c.1060G>C (p.Gly354Arg) c.913G>C (p.Gly305Arg) | |
| X | g.129562599G>T | CA414552718 | OCRL | c.*1349G>T (n.*1349G>T) c.1174G>T c.1057G>T (p.Gly353Ter) c.1105G>T c.168G>T c.708G>T c.586G>T (p.Gly196Ter) c.1060G>T (p.Gly354Ter) c.913G>T (p.Gly305Ter) | |
| X | g.129562600G>A | CA414552721 | OCRL | c.*1350G>A (n.*1350G>A) c.1175G>A c.1058G>A (p.Gly353Glu) c.1106G>A c.169G>A c.709G>A c.587G>A (p.Gly196Glu) c.1061G>A (p.Gly354Glu) c.914G>A (p.Gly305Glu) | |
| X | g.129562600G>C | CA414552722 | OCRL | c.*1350G>C (n.*1350G>C) c.1175G>C c.1058G>C (p.Gly353Ala) c.1106G>C c.169G>C c.709G>C c.587G>C (p.Gly196Ala) c.1061G>C (p.Gly354Ala) c.914G>C (p.Gly305Ala) | |
| X | g.129562600G>T | CA414552723 | OCRL | c.*1350G>T (n.*1350G>T) c.1175G>T c.1058G>T (p.Gly353Val) c.1106G>T c.169G>T c.709G>T c.587G>T (p.Gly196Val) c.1061G>T (p.Gly354Val) c.914G>T (p.Gly305Val) | |
| X | g.129562601A>C | CA518471457 | OCRL | c.*1351A>C (n.*1351A>C) c.1176A>C c.1059A>C (p.Gly353=) c.1107A>C c.170A>C c.710A>C c.588A>C (p.Gly196=) c.1062A>C (p.Gly354=) c.915A>C (p.Gly305=) | |
| X | g.129562601A>G | CA518471459 | OCRL | c.*1351A>G (n.*1351A>G) c.1176A>G c.1059A>G (p.Gly353=) c.1107A>G c.170A>G c.710A>G c.588A>G (p.Gly196=) c.1062A>G (p.Gly354=) c.915A>G (p.Gly305=) | |
| X | g.129562601A>T | CA518471461 | OCRL | c.*1351A>T (n.*1351A>T) c.1176A>T c.1059A>T (p.Gly353=) c.1107A>T c.170A>T c.710A>T c.588A>T (p.Gly196=) c.1062A>T (p.Gly354=) c.915A>T (p.Gly305=) | |
| X | g.129562603del | CA2559574523 | OCRL | c.*1353del (n.*1353del) c.1178del c.1061del (p.Asn354ThrfsTer5) c.1109del c.172del c.712del c.590del (p.Asn197ThrfsTer5) c.1064del (p.Asn355ThrfsTer5) c.917del (p.Asn306ThrfsTer5) | |
| X | g.129562602A= | CA2458099493 | OCRL | c.*1352A= (n.*1352A=) c.1177A= c.1060A= (p.Asn354=) c.1108A= c.171A= c.711A= c.589A= (p.Asn197=) c.1063A= (p.Asn355=) c.916A= (p.Asn306=) | |
| X | g.129562602A>C | CA266139 | OCRL | c.*1352A>C (n.*1352A>C) c.1177A>C c.1060A>C (p.Asn354His) c.1108A>C c.171A>C c.711A>C c.589A>C (p.Asn197His) c.1063A>C (p.Asn355His) c.916A>C (p.Asn306His) | ClinVar dbSNP |
| X | g.129562602A>G | CA414552724 | OCRL | c.*1352A>G (n.*1352A>G) c.1177A>G c.1060A>G (p.Asn354Asp) c.1108A>G c.171A>G c.711A>G c.589A>G (p.Asn197Asp) c.1063A>G (p.Asn355Asp) c.916A>G (p.Asn306Asp) | |
| X | g.129562602A>T | CA414552725 | OCRL | c.*1352A>T (n.*1352A>T) c.1177A>T c.1060A>T (p.Asn354Tyr) c.1108A>T c.171A>T c.711A>T c.589A>T (p.Asn197Tyr) c.1063A>T (p.Asn355Tyr) c.916A>T (p.Asn306Tyr) | |
| X | g.129562603A>C | CA414552726 | OCRL | c.*1353A>C (n.*1353A>C) c.1178A>C c.1061A>C (p.Asn354Thr) c.1109A>C c.172A>C c.712A>C c.590A>C (p.Asn197Thr) c.1064A>C (p.Asn355Thr) c.917A>C (p.Asn306Thr) | |
| X | g.129562603A>G | CA414552727 | OCRL | c.*1353A>G (n.*1353A>G) c.1178A>G c.1061A>G (p.Asn354Ser) c.1109A>G c.172A>G c.712A>G c.590A>G (p.Asn197Ser) c.1064A>G (p.Asn355Ser) c.917A>G (p.Asn306Ser) | |
| X | g.129562603A>T | CA414552728 | OCRL | c.*1353A>T (n.*1353A>T) c.1178A>T c.1061A>T (p.Asn354Ile) c.1109A>T c.172A>T c.712A>T c.590A>T (p.Asn197Ile) c.1064A>T (p.Asn355Ile) c.917A>T (p.Asn306Ile) | |
| X | g.129562604C>A | CA414552729 | OCRL | c.*1354C>A (n.*1354C>A) c.1179C>A c.1062C>A (p.Asn354Lys) c.1110C>A c.173C>A c.713C>A c.591C>A (p.Asn197Lys) c.1065C>A (p.Asn355Lys) c.918C>A (p.Asn306Lys) | |
| X | g.129562604C>G | CA414552730 | OCRL | c.*1354C>G (n.*1354C>G) c.1179C>G c.1062C>G (p.Asn354Lys) c.1110C>G c.173C>G c.713C>G c.591C>G (p.Asn197Lys) c.1065C>G (p.Asn355Lys) c.918C>G (p.Asn306Lys) | |
| X | g.129562604C>T | CA518471463 | OCRL | c.*1354C>T (n.*1354C>T) c.1179C>T c.1062C>T (p.Asn354=) c.1110C>T c.173C>T c.713C>T c.591C>T (p.Asn197=) c.1065C>T (p.Asn355=) c.918C>T (p.Asn306=) | |
| X | g.129562605A= | CA2458099494 | OCRL | c.*1355A= (n.*1355A=) c.1180A= c.1063A= (p.Lys355=) c.1111A= c.174A= c.714A= c.592A= (p.Lys198=) c.1066A= (p.Lys356=) c.919A= (p.Lys307=) | |
| X | g.129562605A>C | CA414552732 | OCRL | c.*1355A>C (n.*1355A>C) c.1180A>C c.1063A>C (p.Lys355Gln) c.1111A>C c.174A>C c.714A>C c.592A>C (p.Lys198Gln) c.1066A>C (p.Lys356Gln) c.919A>C (p.Lys307Gln) | |
| X | g.129562605A>G | CA10512132 | OCRL | c.*1355A>G (n.*1355A>G) c.1180A>G c.1063A>G (p.Lys355Glu) c.1111A>G c.174A>G c.714A>G c.592A>G (p.Lys198Glu) c.1066A>G (p.Lys356Glu) c.919A>G (p.Lys307Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.129562605A>T | CA414552731 | OCRL | c.*1355A>T (n.*1355A>T) c.1180A>T c.1063A>T (p.Lys355Ter) c.1111A>T c.174A>T c.714A>T c.592A>T (p.Lys198Ter) c.1066A>T (p.Lys356Ter) c.919A>T (p.Lys307Ter) | |
| X | g.129562606_129562607del | CA2695235839 | OCRL | c.*1356_*1357del (n.*1356_*1357del) c.1181_1182del c.1064_1065del (p.Lys355ArgfsTer29) c.1112_1113del c.175_176del c.715_716del c.593_594del (p.Lys198ArgfsTer29) c.1067_1068del (p.Lys356ArgfsTer29) c.920_921del (p.Lys307ArgfsTer29) | |
| X | g.129562606A>C | CA414552733 | OCRL | c.*1356A>C (n.*1356A>C) c.1181A>C c.1064A>C (p.Lys355Thr) c.1112A>C c.175A>C c.715A>C c.593A>C (p.Lys198Thr) c.1067A>C (p.Lys356Thr) c.920A>C (p.Lys307Thr) | |
| X | g.129562606A>G | CA414552734 | OCRL | c.*1356A>G (n.*1356A>G) c.1181A>G c.1064A>G (p.Lys355Arg) c.1112A>G c.175A>G c.715A>G c.593A>G (p.Lys198Arg) c.1067A>G (p.Lys356Arg) c.920A>G (p.Lys307Arg) | |
| X | g.129562606A>T | CA414552735 | OCRL | c.*1356A>T (n.*1356A>T) c.1181A>T c.1064A>T (p.Lys355Ile) c.1112A>T c.175A>T c.715A>T c.593A>T (p.Lys198Ile) c.1067A>T (p.Lys356Ile) c.920A>T (p.Lys307Ile) | |
| X | g.129562607A>C | CA414552736 | OCRL | c.*1357A>C (n.*1357A>C) c.1182A>C c.1065A>C (p.Lys355Asn) c.1113A>C c.176A>C c.716A>C c.594A>C (p.Lys198Asn) c.1068A>C (p.Lys356Asn) c.921A>C (p.Lys307Asn) | |
| X | g.129562607A>G | CA518471464 | OCRL | c.*1357A>G (n.*1357A>G) c.1182A>G c.1065A>G (p.Lys355=) c.1113A>G c.176A>G c.716A>G c.594A>G (p.Lys198=) c.1068A>G (p.Lys356=) c.921A>G (p.Lys307=) | |
| X | g.129562607A>T | CA414552737 | OCRL | c.*1357A>T (n.*1357A>T) c.1182A>T c.1065A>T (p.Lys355Asn) c.1113A>T c.176A>T c.716A>T c.594A>T (p.Lys198Asn) c.1068A>T (p.Lys356Asn) c.921A>T (p.Lys307Asn) | |
| X | g.129562608G>A | CA414552740 | OCRL | c.*1358G>A (n.*1358G>A) c.1183G>A c.1066G>A (p.Gly356Ser) c.1114G>A c.177G>A c.717G>A c.595G>A (p.Gly199Ser) c.1069G>A (p.Gly357Ser) c.922G>A (p.Gly308Ser) | |
| X | g.129562608G>C | CA414552739 | OCRL | c.*1358G>C (n.*1358G>C) c.1183G>C c.1066G>C (p.Gly356Arg) c.1114G>C c.177G>C c.717G>C c.595G>C (p.Gly199Arg) c.1069G>C (p.Gly357Arg) c.922G>C (p.Gly308Arg) | |
| X | g.129562608G>T | CA414552738 | OCRL | c.*1358G>T (n.*1358G>T) c.1183G>T c.1066G>T (p.Gly356Cys) c.1114G>T c.177G>T c.717G>T c.595G>T (p.Gly199Cys) c.1069G>T (p.Gly357Cys) c.922G>T (p.Gly308Cys) | |
| X | g.129562609G>A | CA414552741 | OCRL | c.*1359G>A (n.*1359G>A) c.1184G>A c.1067G>A (p.Gly356Asp) c.1115G>A c.178G>A c.718G>A c.596G>A (p.Gly199Asp) c.1070G>A (p.Gly357Asp) c.923G>A (p.Gly308Asp) | COSMIC |
| X | g.129562609G>C | CA414552742 | OCRL | c.*1359G>C (n.*1359G>C) c.1184G>C c.1067G>C (p.Gly356Ala) c.1115G>C c.178G>C c.718G>C c.596G>C (p.Gly199Ala) c.1070G>C (p.Gly357Ala) c.923G>C (p.Gly308Ala) | |
| X | g.129562609G>T | CA414552743 | OCRL | c.*1359G>T (n.*1359G>T) c.1184G>T c.1067G>T (p.Gly356Val) c.1115G>T c.178G>T c.718G>T c.596G>T (p.Gly199Val) c.1070G>T (p.Gly357Val) c.923G>T (p.Gly308Val) | |
| X | g.129562610T>A | CA518471468 | OCRL | c.*1360T>A (n.*1360T>A) c.1185T>A c.1068T>A (p.Gly356=) c.1116T>A c.179T>A c.719T>A c.597T>A (p.Gly199=) c.1071T>A (p.Gly357=) c.924T>A (p.Gly308=) | |
| X | g.129562610T>C | CA518471467 | OCRL | c.*1360T>C (n.*1360T>C) c.1185T>C c.1068T>C (p.Gly356=) c.1116T>C c.179T>C c.719T>C c.597T>C (p.Gly199=) c.1071T>C (p.Gly357=) c.924T>C (p.Gly308=) | |
| X | g.129562610T>G | CA518471466 | OCRL | c.*1360T>G (n.*1360T>G) c.1185T>G c.1068T>G (p.Gly356=) c.1116T>G c.179T>G c.719T>G c.597T>G (p.Gly199=) c.1071T>G (p.Gly357=) c.924T>G (p.Gly308=) | |
| X | g.129562611G>A | CA414552744 | OCRL | c.*1361G>A (n.*1361G>A) c.1186G>A c.1069G>A (p.Gly357Arg) c.1117G>A c.180G>A c.720G>A c.598G>A (p.Gly200Arg) c.1072G>A (p.Gly358Arg) c.925G>A (p.Gly309Arg) | |
| X | g.129562611G>C | CA414552745 | OCRL | c.*1361G>C (n.*1361G>C) c.1186G>C c.1069G>C (p.Gly357Arg) c.1117G>C c.180G>C c.720G>C c.598G>C (p.Gly200Arg) c.1072G>C (p.Gly358Arg) c.925G>C (p.Gly309Arg) | |
| X | g.129562611G>T | CA414552746 | OCRL | c.*1361G>T (n.*1361G>T) c.1186G>T c.1069G>T (p.Gly357Trp) c.1117G>T c.180G>T c.720G>T c.598G>T (p.Gly200Trp) c.1072G>T (p.Gly358Trp) c.925G>T (p.Gly309Trp) | |
| X | g.129562612G>A | CA266140 | OCRL | c.*1362G>A (n.*1362G>A) c.1187G>A c.1070G>A (p.Gly357Glu) c.1118G>A c.181G>A c.721G>A c.599G>A (p.Gly200Glu) c.1073G>A (p.Gly358Glu) c.926G>A (p.Gly309Glu) | ClinVar dbSNP |
| X | g.129562612G>C | CA414552748 | OCRL | c.*1362G>C (n.*1362G>C) c.1187G>C c.1070G>C (p.Gly357Ala) c.1118G>C c.181G>C c.721G>C c.599G>C (p.Gly200Ala) c.1073G>C (p.Gly358Ala) c.926G>C (p.Gly309Ala) | |
| X | g.129562612G= | CA2458099495 | OCRL | c.*1362G= (n.*1362G=) c.1187G= c.1070G= (p.Gly357=) c.1118G= c.181G= c.721G= c.599G= (p.Gly200=) c.1073G= (p.Gly358=) c.926G= (p.Gly309=) | |
| X | g.129562612G>T | CA414552747 | OCRL | c.*1362G>T (n.*1362G>T) c.1187G>T c.1070G>T (p.Gly357Val) c.1118G>T c.181G>T c.721G>T c.599G>T (p.Gly200Val) c.1073G>T (p.Gly358Val) c.926G>T (p.Gly309Val) | |
| X | g.129562613G>A | CA518471470 | OCRL | c.*1363G>A (n.*1363G>A) c.1188G>A c.1071G>A (p.Gly357=) c.1119G>A c.182G>A c.722G>A c.600G>A (p.Gly200=) c.1074G>A (p.Gly358=) c.927G>A (p.Gly309=) | |
| X | g.129562613G>C | CA518471472 | OCRL | c.*1363G>C (n.*1363G>C) c.1188G>C c.1071G>C (p.Gly357=) c.1119G>C c.182G>C c.722G>C c.600G>C (p.Gly200=) c.1074G>C (p.Gly358=) c.927G>C (p.Gly309=) | |
| X | g.129562613G>T | CA518471471 | OCRL | c.*1363G>T (n.*1363G>T) c.1188G>T c.1071G>T (p.Gly357=) c.1119G>T c.182G>T c.722G>T c.600G>T (p.Gly200=) c.1074G>T (p.Gly358=) c.927G>T (p.Gly309=) | |
| X | g.129562614G>A | CA414552749 | OCRL | c.*1364G>A (n.*1364G>A) c.1189G>A c.1072G>A (p.Val358Ile) c.1120G>A c.183G>A c.723G>A c.601G>A (p.Val201Ile) c.1075G>A (p.Val359Ile) c.928G>A (p.Val310Ile) | |
| X | g.129562614G>C | CA414552750 | OCRL | c.*1364G>C (n.*1364G>C) c.1189G>C c.1072G>C (p.Val358Leu) c.1120G>C c.183G>C c.723G>C c.601G>C (p.Val201Leu) c.1075G>C (p.Val359Leu) c.928G>C (p.Val310Leu) | |
| X | g.129562614G>T | CA414552751 | OCRL | c.*1364G>T (n.*1364G>T) c.1189G>T c.1072G>T (p.Val358Leu) c.1120G>T c.183G>T c.723G>T c.601G>T (p.Val201Leu) c.1075G>T (p.Val359Leu) c.928G>T (p.Val310Leu) | |
| X | g.129562615_129562617del | CA2694654022 | OCRL | c.*1365_*1367del (n.*1365_*1367del) c.1190_1192del c.1073_1075del (p.Val358del) c.1121_1123del c.184_186del c.724_726del c.602_604del (p.Val201del) c.1076_1078del (p.Val359del) c.929_931del (p.Val310del) | gnomAD v4 |
| X | g.129562615T>A | CA414552752 | OCRL | c.*1365T>A (n.*1365T>A) c.1190T>A c.1073T>A (p.Val358Glu) c.1121T>A c.184T>A c.724T>A c.602T>A (p.Val201Glu) c.1076T>A (p.Val359Glu) c.929T>A (p.Val310Glu) | |
| X | g.129562615T>C | CA414552753 | OCRL | c.*1365T>C (n.*1365T>C) c.1190T>C c.1073T>C (p.Val358Ala) c.1121T>C c.184T>C c.724T>C c.602T>C (p.Val201Ala) c.1076T>C (p.Val359Ala) c.929T>C (p.Val310Ala) | |
| X | g.129562615T>G | CA414552754 | OCRL | c.*1365T>G (n.*1365T>G) c.1190T>G c.1073T>G (p.Val358Gly) c.1121T>G c.184T>G c.724T>G c.602T>G (p.Val201Gly) c.1076T>G (p.Val359Gly) c.929T>G (p.Val310Gly) | |
| X | g.129562616A>C | CA518471474 | OCRL | c.*1366A>C (n.*1366A>C) c.1191A>C c.1074A>C (p.Val358=) c.1122A>C c.185A>C c.725A>C c.603A>C (p.Val201=) c.1077A>C (p.Val359=) c.930A>C (p.Val310=) | |
| X | g.129562616A>G | CA518471475 | OCRL | c.*1366A>G (n.*1366A>G) c.1191A>G c.1074A>G (p.Val358=) c.1122A>G c.185A>G c.725A>G c.603A>G (p.Val201=) c.1077A>G (p.Val359=) c.930A>G (p.Val310=) | |
| X | g.129562616A>T | CA518471476 | OCRL | c.*1366A>T (n.*1366A>T) c.1191A>T c.1074A>T (p.Val358=) c.1122A>T c.185A>T c.725A>T c.603A>T (p.Val201=) c.1077A>T (p.Val359=) c.930A>T (p.Val310=) | |
| X | g.129562617G>A | CA414552755 | OCRL | c.*1367G>A (n.*1367G>A) c.1192G>A c.1075G>A (p.Ala359Thr) c.1123G>A c.186G>A c.726G>A c.604G>A (p.Ala202Thr) c.1078G>A (p.Ala360Thr) c.931G>A (p.Ala311Thr) | |
| X | g.129562617G>C | CA414552756 | OCRL | c.*1367G>C (n.*1367G>C) c.1192G>C c.1075G>C (p.Ala359Pro) c.1123G>C c.186G>C c.726G>C c.604G>C (p.Ala202Pro) c.1078G>C (p.Ala360Pro) c.931G>C (p.Ala311Pro) | |
| X | g.129562617G>T | CA414552757 | OCRL | c.*1367G>T (n.*1367G>T) c.1192G>T c.1075G>T (p.Ala359Ser) c.1123G>T c.186G>T c.726G>T c.604G>T (p.Ala202Ser) c.1078G>T (p.Ala360Ser) c.931G>T (p.Ala311Ser) | gnomAD v4 |
| X | g.129562618C>A | CA414552758 | OCRL | c.*1368C>A (n.*1368C>A) c.1193C>A c.1076C>A (p.Ala359Asp) c.1124C>A c.187C>A c.727C>A c.605C>A (p.Ala202Asp) c.1079C>A (p.Ala360Asp) c.932C>A (p.Ala311Asp) | |
| X | g.129562618C>G | CA414552759 | OCRL | c.*1368C>G (n.*1368C>G) c.1193C>G c.1076C>G (p.Ala359Gly) c.1124C>G c.187C>G c.727C>G c.605C>G (p.Ala202Gly) c.1079C>G (p.Ala360Gly) c.932C>G (p.Ala311Gly) | |
| X | g.129562618C>T | CA414552760 | OCRL | c.*1368C>T (n.*1368C>T) c.1193C>T c.1076C>T (p.Ala359Val) c.1124C>T c.187C>T c.727C>T c.605C>T (p.Ala202Val) c.1079C>T (p.Ala360Val) c.932C>T (p.Ala311Val) | |
| X | g.129562619T>A | CA518471480 | OCRL | c.*1369T>A (n.*1369T>A) c.1194T>A c.1077T>A (p.Ala359=) c.1125T>A c.188T>A c.728T>A c.606T>A (p.Ala202=) c.1080T>A (p.Ala360=) c.933T>A (p.Ala311=) | |
| X | g.129562619T>C | CA518471481 | OCRL | c.*1369T>C (n.*1369T>C) c.1194T>C c.1077T>C (p.Ala359=) c.1125T>C c.188T>C c.728T>C c.606T>C (p.Ala202=) c.1080T>C (p.Ala360=) c.933T>C (p.Ala311=) | |
| X | g.129562619T>G | CA518471482 | OCRL | c.*1369T>G (n.*1369T>G) c.1194T>G c.1077T>G (p.Ala359=) c.1125T>G c.188T>G c.728T>G c.606T>G (p.Ala202=) c.1080T>G (p.Ala360=) c.933T>G (p.Ala311=) | |
| X | g.129562620G>A | CA414552762 | OCRL | c.*1370G>A (n.*1370G>A) c.1195G>A c.1078G>A (p.Val360Met) c.1126G>A c.189G>A c.729G>A c.607G>A (p.Val203Met) c.1081G>A (p.Val361Met) c.934G>A (p.Val312Met) | |
| X | g.129562620G>C | CA414552763 | OCRL | c.*1370G>C (n.*1370G>C) c.1195G>C c.1078G>C (p.Val360Leu) c.1126G>C c.189G>C c.729G>C c.607G>C (p.Val203Leu) c.1081G>C (p.Val361Leu) c.934G>C (p.Val312Leu) | |
| X | g.129562620G>T | CA414552761 | OCRL | c.*1370G>T (n.*1370G>T) c.1195G>T c.1078G>T (p.Val360Leu) c.1126G>T c.189G>T c.729G>T c.607G>T (p.Val203Leu) c.1081G>T (p.Val361Leu) c.934G>T (p.Val312Leu) | |
| X | g.129562621T>A | CA414552764 | OCRL | c.*1371T>A (n.*1371T>A) c.1196T>A c.1079T>A (p.Val360Glu) c.1127T>A c.190T>A c.730T>A c.608T>A (p.Val203Glu) c.1082T>A (p.Val361Glu) c.935T>A (p.Val312Glu) | |
| X | g.129562621T>C | CA414552766 | OCRL | c.*1371T>C (n.*1371T>C) c.1196T>C c.1079T>C (p.Val360Ala) c.1127T>C c.190T>C c.730T>C c.608T>C (p.Val203Ala) c.1082T>C (p.Val361Ala) c.935T>C (p.Val312Ala) | |
| X | g.129562621T>G | CA414552765 | OCRL | c.*1371T>G (n.*1371T>G) c.1196T>G c.1079T>G (p.Val360Gly) c.1127T>G c.190T>G c.730T>G c.608T>G (p.Val203Gly) c.1082T>G (p.Val361Gly) c.935T>G (p.Val312Gly) | gnomAD v4 |
| X | g.129562622G>A | CA518471483 | OCRL | c.*1372G>A (n.*1372G>A) c.1197G>A c.1080G>A (p.Val360=) c.1128G>A c.191G>A c.731G>A c.609G>A (p.Val203=) c.1083G>A (p.Val361=) c.936G>A (p.Val312=) | |
| X | g.129562622G>C | CA518471484 | OCRL | c.*1372G>C (n.*1372G>C) c.1197G>C c.1080G>C (p.Val360=) c.1128G>C c.191G>C c.731G>C c.609G>C (p.Val203=) c.1083G>C (p.Val361=) c.936G>C (p.Val312=) | |
| X | g.129562622G>T | CA518471485 | OCRL | c.*1372G>T (n.*1372G>T) c.1197G>T c.1080G>T (p.Val360=) c.1128G>T c.191G>T c.731G>T c.609G>T (p.Val203=) c.1083G>T (p.Val361=) c.936G>T (p.Val312=) | |
| X | g.129562623A>C | CA518471486 | OCRL | c.*1373A>C (n.*1373A>C) c.1198A>C c.1081A>C (p.Arg361=) c.1129A>C c.192A>C c.732A>C c.610A>C (p.Arg204=) c.1084A>C (p.Arg362=) c.937A>C (p.Arg313=) | |
| X | g.129562623A>G | CA414552767 | OCRL | c.*1373A>G (n.*1373A>G) c.1198A>G c.1081A>G (p.Arg361Gly) c.1129A>G c.192A>G c.732A>G c.610A>G (p.Arg204Gly) c.1084A>G (p.Arg362Gly) c.937A>G (p.Arg313Gly) | |
| X | g.129562623A>T | CA414552768 | OCRL | c.*1373A>T (n.*1373A>T) c.1198A>T c.1081A>T (p.Arg361Ter) c.1129A>T c.192A>T c.732A>T c.610A>T (p.Arg204Ter) c.1084A>T (p.Arg362Ter) c.937A>T (p.Arg313Ter) | |
| X | g.129562624G>A | CA414552769 | OCRL | c.*1374G>A (n.*1374G>A) c.1199G>A c.1082G>A (p.Arg361Lys) c.1130G>A c.193G>A c.733G>A c.611G>A (p.Arg204Lys) c.1085G>A (p.Arg362Lys) c.938G>A (p.Arg313Lys) | |
| X | g.129562624G>C | CA414552770 | OCRL | c.*1374G>C (n.*1374G>C) c.1199G>C c.1082G>C (p.Arg361Thr) c.1130G>C c.193G>C c.733G>C c.611G>C (p.Arg204Thr) c.1085G>C (p.Arg362Thr) c.938G>C (p.Arg313Thr) | |
| X | g.129562624G= | CA2458099496 | OCRL | c.*1374G= (n.*1374G=) c.1199G= c.1082G= (p.Arg361=) c.1130G= c.193G= c.733G= c.611G= (p.Arg204=) c.1085G= (p.Arg362=) c.938G= (p.Arg313=) | |
| X | g.129562624G>T | CA266142 | OCRL | c.*1374G>T (n.*1374G>T) c.1199G>T c.1082G>T (p.Arg361Ile) c.1130G>T c.193G>T c.733G>T c.611G>T (p.Arg204Ile) c.1085G>T (p.Arg362Ile) c.938G>T (p.Arg313Ile) | ClinVar dbSNP |
| X | g.129562625A= | CA2458099497 | OCRL | c.*1375A= (n.*1375A=) c.1200A= c.1083A= (p.Arg361=) c.1131A= c.194A= c.734A= c.612A= (p.Arg204=) c.1086A= (p.Arg362=) c.939A= (p.Arg313=) | |
| X | g.129562625A>C | CA414552771 | OCRL | c.*1375A>C (n.*1375A>C) c.1200A>C c.1083A>C (p.Arg361Ser) c.1131A>C c.194A>C c.734A>C c.612A>C (p.Arg204Ser) c.1086A>C (p.Arg362Ser) c.939A>C (p.Arg313Ser) | |
| X | g.129562625A>G | CA10512133 | OCRL | c.*1375A>G (n.*1375A>G) c.1200A>G c.1083A>G (p.Arg361=) c.1131A>G c.194A>G c.734A>G c.612A>G (p.Arg204=) c.1086A>G (p.Arg362=) c.939A>G (p.Arg313=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.129562625A>T | CA414552772 | OCRL | c.*1375A>T (n.*1375A>T) c.1200A>T c.1083A>T (p.Arg361Ser) c.1131A>T c.194A>T c.734A>T c.612A>T (p.Arg204Ser) c.1086A>T (p.Arg362Ser) c.939A>T (p.Arg313Ser) | |
| X | g.129562626T>A | CA414552775 | OCRL | c.*1376T>A (n.*1376T>A) c.1201T>A c.1084T>A (p.Phe362Ile) c.1132T>A c.195T>A c.735T>A c.613T>A (p.Phe205Ile) c.1087T>A (p.Phe363Ile) c.940T>A (p.Phe314Ile) | |
| X | g.129562626T>C | CA414552773 | OCRL | c.*1376T>C (n.*1376T>C) c.1201T>C c.1084T>C (p.Phe362Leu) c.1132T>C c.195T>C c.735T>C c.613T>C (p.Phe205Leu) c.1087T>C (p.Phe363Leu) c.940T>C (p.Phe314Leu) | |
| X | g.129562626T>G | CA414552774 | OCRL | c.*1376T>G (n.*1376T>G) c.1201T>G c.1084T>G (p.Phe362Val) c.1132T>G c.195T>G c.735T>G c.613T>G (p.Phe205Val) c.1087T>G (p.Phe363Val) c.940T>G (p.Phe314Val) | |
| X | g.129562627T>A | CA414552776 | OCRL | c.*1377T>A (n.*1377T>A) c.1202T>A c.1085T>A (p.Phe362Tyr) c.1133T>A c.196T>A c.736T>A c.614T>A (p.Phe205Tyr) c.1088T>A (p.Phe363Tyr) c.941T>A (p.Phe314Tyr) | gnomAD v4 |
| X | g.129562627T>C | CA414552777 | OCRL | c.*1377T>C (n.*1377T>C) c.1202T>C c.1085T>C (p.Phe362Ser) c.1133T>C c.196T>C c.736T>C c.614T>C (p.Phe205Ser) c.1088T>C (p.Phe363Ser) c.941T>C (p.Phe314Ser) | |
| X | g.129562627T>G | CA414552778 | OCRL | c.*1377T>G (n.*1377T>G) c.1202T>G c.1085T>G (p.Phe362Cys) c.1133T>G c.196T>G c.736T>G c.614T>G (p.Phe205Cys) c.1088T>G (p.Phe363Cys) c.941T>G (p.Phe314Cys) | |
| X | g.129562628T>A | CA414552779 | OCRL | c.*1378T>A (n.*1378T>A) c.1203T>A c.1086T>A (p.Phe362Leu) c.1134T>A c.197T>A c.737T>A c.615T>A (p.Phe205Leu) c.1089T>A (p.Phe363Leu) c.942T>A (p.Phe314Leu) | |
| X | g.129562628T>C | CA518471493 | OCRL | c.*1378T>C (n.*1378T>C) c.1203T>C c.1086T>C (p.Phe362=) c.1134T>C c.197T>C c.737T>C c.615T>C (p.Phe205=) c.1089T>C (p.Phe363=) c.942T>C (p.Phe314=) | gnomAD v4 |
| X | g.129562628T>G | CA414552780 | OCRL | c.*1378T>G (n.*1378T>G) c.1203T>G c.1086T>G (p.Phe362Leu) c.1134T>G c.197T>G c.737T>G c.615T>G (p.Phe205Leu) c.1089T>G (p.Phe363Leu) c.942T>G (p.Phe314Leu) | |
| X | g.129562629G>A | CA414552783 | OCRL | c.*1379G>A (n.*1379G>A) c.1204G>A c.1087G>A (p.Val363Ile) c.1135G>A c.198G>A c.738G>A c.616G>A (p.Val206Ile) c.1090G>A (p.Val364Ile) c.943G>A (p.Val315Ile) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.129562629G>C | CA414552781 | OCRL | c.*1379G>C (n.*1379G>C) c.1204G>C c.1087G>C (p.Val363Leu) c.1135G>C c.198G>C c.738G>C c.616G>C (p.Val206Leu) c.1090G>C (p.Val364Leu) c.943G>C (p.Val315Leu) | |
| X | g.129562629G= | CA2458099498 | OCRL | c.*1379G= (n.*1379G=) c.1204G= c.1087G= (p.Val363=) c.1135G= c.198G= c.738G= c.616G= (p.Val206=) c.1090G= (p.Val364=) c.943G= (p.Val315=) | |
| X | g.129562629G>T | CA414552782 | OCRL | c.*1379G>T (n.*1379G>T) c.1204G>T c.1087G>T (p.Val363Leu) c.1135G>T c.198G>T c.738G>T c.616G>T (p.Val206Leu) c.1090G>T (p.Val364Leu) c.943G>T (p.Val315Leu) | |
| X | g.129562630T>A | CA414552784 | OCRL | c.*1380T>A (n.*1380T>A) c.1205T>A c.1088T>A (p.Val363Glu) c.1136T>A c.199T>A c.739T>A c.617T>A (p.Val206Glu) c.1091T>A (p.Val364Glu) c.944T>A (p.Val315Glu) | gnomAD v4 |
| X | g.129562630T>C | CA414552785 | OCRL | c.*1380T>C (n.*1380T>C) c.1205T>C c.1088T>C (p.Val363Ala) c.1136T>C c.199T>C c.739T>C c.617T>C (p.Val206Ala) c.1091T>C (p.Val364Ala) c.944T>C (p.Val315Ala) | COSMIC |
| X | g.129562630T>G | CA414552786 | OCRL | c.*1380T>G (n.*1380T>G) c.1205T>G c.1088T>G (p.Val363Gly) c.1136T>G c.199T>G c.739T>G c.617T>G (p.Val206Gly) c.1091T>G (p.Val364Gly) c.944T>G (p.Val315Gly) | |
| X | g.129562631A= | CA2458099499 | OCRL | c.*1381A= (n.*1381A=) c.1206A= c.1089A= (p.Val363=) c.1137A= c.200A= c.740A= c.618A= (p.Val206=) c.1092A= (p.Val364=) c.945A= (p.Val315=) | |
| X | g.129562631A>C | CA518471496 | OCRL | c.*1381A>C (n.*1381A>C) c.1206A>C c.1089A>C (p.Val363=) c.1137A>C c.200A>C c.740A>C c.618A>C (p.Val206=) c.1092A>C (p.Val364=) c.945A>C (p.Val315=) | |
| X | g.129562631A>G | CA10512134 | OCRL | c.*1381A>G (n.*1381A>G) c.1206A>G c.1089A>G (p.Val363=) c.1137A>G c.200A>G c.740A>G c.618A>G (p.Val206=) c.1092A>G (p.Val364=) c.945A>G (p.Val315=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.129562631A>T | CA518471499 | OCRL | c.*1381A>T (n.*1381A>T) c.1206A>T c.1089A>T (p.Val363=) c.1137A>T c.200A>T c.740A>T c.618A>T (p.Val206=) c.1092A>T (p.Val364=) c.945A>T (p.Val315=) | |
| X | g.129562632T>A | CA414552787 | OCRL | c.*1382T>A (n.*1382T>A) c.1207T>A c.1090T>A (p.Phe364Ile) c.1138T>A c.201T>A c.741T>A c.619T>A (p.Phe207Ile) c.1093T>A (p.Phe365Ile) c.946T>A (p.Phe316Ile) | |
| X | g.129562632T>C | CA414552788 | OCRL | c.*1382T>C (n.*1382T>C) c.1207T>C c.1090T>C (p.Phe364Leu) c.1138T>C c.201T>C c.741T>C c.619T>C (p.Phe207Leu) c.1093T>C (p.Phe365Leu) c.946T>C (p.Phe316Leu) | |
| X | g.129562632T>G | CA414552789 | OCRL | c.*1382T>G (n.*1382T>G) c.1207T>G c.1090T>G (p.Phe364Val) c.1138T>G c.201T>G c.741T>G c.619T>G (p.Phe207Val) c.1093T>G (p.Phe365Val) c.946T>G (p.Phe316Val) | |
| X | g.129562633T>A | CA335086140 | OCRL | c.*1383T>A (n.*1383T>A) c.1208T>A c.1091T>A (p.Phe364Tyr) c.1139T>A c.202T>A c.742T>A c.620T>A (p.Phe207Tyr) c.1094T>A (p.Phe365Tyr) c.947T>A (p.Phe316Tyr) | dbSNP gnomAD v4 |
| X | g.129562633T>C | CA414552790 | OCRL | c.*1383T>C (n.*1383T>C) c.1208T>C c.1091T>C (p.Phe364Ser) c.1139T>C c.202T>C c.742T>C c.620T>C (p.Phe207Ser) c.1094T>C (p.Phe365Ser) c.947T>C (p.Phe316Ser) | |
| X | g.129562633T>G | CA414552791 | OCRL | c.*1383T>G (n.*1383T>G) c.1208T>G c.1091T>G (p.Phe364Cys) c.1139T>G c.202T>G c.742T>G c.620T>G (p.Phe207Cys) c.1094T>G (p.Phe365Cys) c.947T>G (p.Phe316Cys) | |
| X | g.129562633T= | CA2458099500 | OCRL | c.*1383T= (n.*1383T=) c.1208T= c.1091T= (p.Phe364=) c.1139T= c.202T= c.742T= c.620T= (p.Phe207=) c.1094T= (p.Phe365=) c.947T= (p.Phe316=) | |
| X | g.129562634T>A | CA414552792 | OCRL | c.*1384T>A (n.*1384T>A) c.1209T>A c.1092T>A (p.Phe364Leu) c.1140T>A c.203T>A c.743T>A c.621T>A (p.Phe207Leu) c.1095T>A (p.Phe365Leu) c.948T>A (p.Phe316Leu) | |
| X | g.129562634T>C | CA518471500 | OCRL | c.*1384T>C (n.*1384T>C) c.1209T>C c.1092T>C (p.Phe364=) c.1140T>C c.203T>C c.743T>C c.621T>C (p.Phe207=) c.1095T>C (p.Phe365=) c.948T>C (p.Phe316=) | |
| X | g.129562634T>G | CA414552793 | OCRL | c.*1384T>G (n.*1384T>G) c.1209T>G c.1092T>G (p.Phe364Leu) c.1140T>G c.203T>G c.743T>G c.621T>G (p.Phe207Leu) c.1095T>G (p.Phe365Leu) c.948T>G (p.Phe316Leu) | |
| X | g.129562635C>A | CA414552794 | OCRL | c.*1385C>A (n.*1385C>A) c.1210C>A c.1093C>A (p.His365Asn) c.1141C>A c.204C>A c.744C>A c.622C>A (p.His208Asn) c.1096C>A (p.His366Asn) c.949C>A (p.His317Asn) | |
| X | g.129562635C= | CA2458099501 | OCRL | c.*1385C= (n.*1385C=) c.1210C= c.1093C= (p.His365=) c.1141C= c.204C= c.744C= c.622C= (p.His208=) c.1096C= (p.His366=) c.949C= (p.His317=) | |
| X | g.129562635C>G | CA414552796 | OCRL | c.*1385C>G (n.*1385C>G) c.1210C>G c.1093C>G (p.His365Asp) c.1141C>G c.204C>G c.744C>G c.622C>G (p.His208Asp) c.1096C>G (p.His366Asp) c.949C>G (p.His317Asp) | |
| X | g.129562635C>T | CA414552795 | OCRL | c.*1385C>T (n.*1385C>T) c.1210C>T c.1093C>T (p.His365Tyr) c.1141C>T c.204C>T c.744C>T c.622C>T (p.His208Tyr) c.1096C>T (p.His366Tyr) c.949C>T (p.His317Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.129562636A>C | CA414552797 | OCRL | c.*1386A>C (n.*1386A>C) c.1211A>C c.1094A>C (p.His365Pro) c.1142A>C c.205A>C c.745A>C c.623A>C (p.His208Pro) c.1097A>C (p.His366Pro) c.950A>C (p.His317Pro) | |
| X | g.129562636A>G | CA414552798 | OCRL | c.*1386A>G (n.*1386A>G) c.1211A>G c.1094A>G (p.His365Arg) c.1142A>G c.205A>G c.745A>G c.623A>G (p.His208Arg) c.1097A>G (p.His366Arg) c.950A>G (p.His317Arg) | |
| X | g.129562636A>T | CA414552799 | OCRL | c.*1386A>T (n.*1386A>T) c.1211A>T c.1094A>T (p.His365Leu) c.1142A>T c.205A>T c.745A>T c.623A>T (p.His208Leu) c.1097A>T (p.His366Leu) c.950A>T (p.His317Leu) | |
| X | g.129562636_129562637delinsAC | CA2458099502 | OCRL | c.*1386_*1387delinsAC (n.*1386_*1387delinsAC) c.1211_1212delinsAC c.1094_1095delinsAC (p.His365=) c.1142_1143delinsAC c.205_206delinsAC c.745_746delinsAC c.623_624delinsAC (p.His208=) c.1097_1098delinsAC (p.His366=) c.950_951delinsAC (p.His317=) | |
| X | g.129562637del | CA16603196 | OCRL | c.*1387del (n.*1387del) c.1212del c.1095del (p.His365GlnfsTer?) c.1143del c.206del c.746del c.624del (p.His208GlnfsTer?) c.1098del (p.His366GlnfsTer?) c.951del (p.His317GlnfsTer?) | ClinVar dbSNP |
| X | g.129562637C>A | CA414552800 | OCRL | c.*1387C>A (n.*1387C>A) c.1212C>A c.1095C>A (p.His365Gln) c.1143C>A c.206C>A c.746C>A c.624C>A (p.His208Gln) c.1098C>A (p.His366Gln) c.951C>A (p.His317Gln) | |
| X | g.129562637C>G | CA414552801 | OCRL | c.*1387C>G (n.*1387C>G) c.1212C>G c.1095C>G (p.His365Gln) c.1143C>G c.206C>G c.746C>G c.624C>G (p.His208Gln) c.1098C>G (p.His366Gln) c.951C>G (p.His317Gln) | |
| X | g.129562637C>T | CA518471503 | OCRL | c.*1387C>T (n.*1387C>T) c.1212C>T c.1095C>T (p.His365=) c.1143C>T c.206C>T c.746C>T c.624C>T (p.His208=) c.1098C>T (p.His366=) c.951C>T (p.His317=) | ClinVar |
| X | g.129562638A>C | CA414552802 | OCRL | c.*1388A>C (n.*1388A>C) c.1213A>C c.1096A>C (p.Asn366His) c.1144A>C c.207A>C c.747A>C c.625A>C (p.Asn209His) c.1099A>C (p.Asn367His) c.952A>C (p.Asn318His) | |
| X | g.129562638A>G | CA414552803 | OCRL | c.*1388A>G (n.*1388A>G) c.1213A>G c.1096A>G (p.Asn366Asp) c.1144A>G c.207A>G c.747A>G c.625A>G (p.Asn209Asp) c.1099A>G (p.Asn367Asp) c.952A>G (p.Asn318Asp) | |
| X | g.129562638A>T | CA414552804 | OCRL | c.*1388A>T (n.*1388A>T) c.1213A>T c.1096A>T (p.Asn366Tyr) c.1144A>T c.207A>T c.747A>T c.625A>T (p.Asn209Tyr) c.1099A>T (p.Asn367Tyr) c.952A>T (p.Asn318Tyr) | |
| X | g.129562639A= | CA2458099503 | OCRL | c.*1389A= (n.*1389A=) c.1214A= c.1097A= (p.Asn366=) c.1145A= c.208A= c.748A= c.626A= (p.Asn209=) c.1100A= (p.Asn367=) c.953A= (p.Asn318=) | |
| X | g.129562639A>C | CA414552805 | OCRL | c.*1389A>C (n.*1389A>C) c.1214A>C c.1097A>C (p.Asn366Thr) c.1145A>C c.208A>C c.748A>C c.626A>C (p.Asn209Thr) c.1100A>C (p.Asn367Thr) c.953A>C (p.Asn318Thr) | gnomAD v4 |
| X | g.129562639A>G | CA414552806 | OCRL | c.*1389A>G (n.*1389A>G) c.1214A>G c.1097A>G (p.Asn366Ser) c.1145A>G c.208A>G c.748A>G c.626A>G (p.Asn209Ser) c.1100A>G (p.Asn367Ser) c.953A>G (p.Asn318Ser) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.129562639A>T | CA414552807 | OCRL | c.*1389A>T (n.*1389A>T) c.1214A>T c.1097A>T (p.Asn366Ile) c.1145A>T c.208A>T c.748A>T c.626A>T (p.Asn209Ile) c.1100A>T (p.Asn367Ile) c.953A>T (p.Asn318Ile) | |
| X | g.129562640C>A | CA414552808 | OCRL | c.*1390C>A (n.*1390C>A) c.1215C>A c.1098C>A (p.Asn366Lys) c.1146C>A c.209C>A c.749C>A c.627C>A (p.Asn209Lys) c.1101C>A (p.Asn367Lys) c.954C>A (p.Asn318Lys) | |
| X | g.129562640C= | CA2458099504 | OCRL | c.*1390C= (n.*1390C=) c.1215C= c.1098C= (p.Asn366=) c.1146C= c.209C= c.749C= c.627C= (p.Asn209=) c.1101C= (p.Asn367=) c.954C= (p.Asn318=) | |
| X | g.129562640C>G | CA414552809 | OCRL | c.*1390C>G (n.*1390C>G) c.1215C>G c.1098C>G (p.Asn366Lys) c.1146C>G c.209C>G c.749C>G c.627C>G (p.Asn209Lys) c.1101C>G (p.Asn367Lys) c.954C>G (p.Asn318Lys) | |
| X | g.129562640C>T | CA518471506 | OCRL | c.*1390C>T (n.*1390C>T) c.1215C>T c.1098C>T (p.Asn366=) c.1146C>T c.209C>T c.749C>T c.627C>T (p.Asn209=) c.1101C>T (p.Asn367=) c.954C>T (p.Asn318=) | dbSNP gnomAD v4 |
| X | g.129562644_129562646del | CA923726338 | OCRL | c.*1394_*1396del (n.*1394_*1396del) c.1219_1221del c.1102_1104del (p.Thr368del) c.1150_1152del c.213_215del c.753_755del c.631_633del (p.Thr211del) c.1105_1107del (p.Thr369del) c.958_960del (p.Thr320del) | |
| X | g.129562641A>C | CA414552810 | OCRL | c.*1391A>C (n.*1391A>C) c.1216A>C c.1099A>C (p.Thr367Pro) c.1147A>C c.210A>C c.750A>C c.628A>C (p.Thr210Pro) c.1102A>C (p.Thr368Pro) c.955A>C (p.Thr319Pro) | |
| X | g.129562641A>G | CA414552812 | OCRL | c.*1391A>G (n.*1391A>G) c.1216A>G c.1099A>G (p.Thr367Ala) c.1147A>G c.210A>G c.750A>G c.628A>G (p.Thr210Ala) c.1102A>G (p.Thr368Ala) c.955A>G (p.Thr319Ala) | |
| X | g.129562641A>T | CA414552811 | OCRL | c.*1391A>T (n.*1391A>T) c.1216A>T c.1099A>T (p.Thr367Ser) c.1147A>T c.210A>T c.750A>T c.628A>T (p.Thr210Ser) c.1102A>T (p.Thr368Ser) c.955A>T (p.Thr319Ser) | |
| X | g.129562642C>A | CA414552813 | OCRL | c.*1392C>A (n.*1392C>A) c.1217C>A c.1100C>A (p.Thr367Asn) c.1148C>A c.211C>A c.751C>A c.629C>A (p.Thr210Asn) c.1103C>A (p.Thr368Asn) c.956C>A (p.Thr319Asn) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.129562642C= | CA2458099505 | OCRL | c.*1392C= (n.*1392C=) c.1217C= c.1100C= (p.Thr367=) c.1148C= c.211C= c.751C= c.629C= (p.Thr210=) c.1103C= (p.Thr368=) c.956C= (p.Thr319=) | |
| X | g.129562642C>G | CA414552814 | OCRL | c.*1392C>G (n.*1392C>G) c.1217C>G c.1100C>G (p.Thr367Ser) c.1148C>G c.211C>G c.751C>G c.629C>G (p.Thr210Ser) c.1103C>G (p.Thr368Ser) c.956C>G (p.Thr319Ser) | |
| X | g.129562642C>T | CA414552815 | OCRL | c.*1392C>T (n.*1392C>T) c.1217C>T c.1100C>T (p.Thr367Ile) c.1148C>T c.211C>T c.751C>T c.629C>T (p.Thr210Ile) c.1103C>T (p.Thr368Ile) c.956C>T (p.Thr319Ile) | |
| X | g.129562643C>A | CA518471510 | OCRL | c.*1393C>A (n.*1393C>A) c.1218C>A c.1101C>A (p.Thr367=) c.1149C>A c.212C>A c.752C>A c.630C>A (p.Thr210=) c.1104C>A (p.Thr368=) c.957C>A (p.Thr319=) | |
| X | g.129562643C>G | CA518471509 | OCRL | c.*1393C>G (n.*1393C>G) c.1218C>G c.1101C>G (p.Thr367=) c.1149C>G c.212C>G c.752C>G c.630C>G (p.Thr210=) c.1104C>G (p.Thr368=) c.957C>G (p.Thr319=) | |
| X | g.129562643C>T | CA518471508 | OCRL | c.*1393C>T (n.*1393C>T) c.1218C>T c.1101C>T (p.Thr367=) c.1149C>T c.212C>T c.752C>T c.630C>T (p.Thr210=) c.1104C>T (p.Thr368=) c.957C>T (p.Thr319=) | |
| X | g.129562644A>C | CA414552816 | OCRL | c.*1394A>C (n.*1394A>C) c.1219A>C c.1102A>C (p.Thr368Pro) c.1150A>C c.213A>C c.753A>C c.631A>C (p.Thr211Pro) c.1105A>C (p.Thr369Pro) c.958A>C (p.Thr320Pro) | |
| X | g.129562644A>G | CA414552817 | OCRL | c.*1394A>G (n.*1394A>G) c.1219A>G c.1102A>G (p.Thr368Ala) c.1150A>G c.213A>G c.753A>G c.631A>G (p.Thr211Ala) c.1105A>G (p.Thr369Ala) c.958A>G (p.Thr320Ala) | |
| X | g.129562644A>T | CA414552818 | OCRL | c.*1394A>T (n.*1394A>T) c.1219A>T c.1102A>T (p.Thr368Ser) c.1150A>T c.213A>T c.753A>T c.631A>T (p.Thr211Ser) c.1105A>T (p.Thr369Ser) c.958A>T (p.Thr320Ser) | |
| X | g.129562645C>A | CA414552819 | OCRL | c.*1395C>A (n.*1395C>A) c.1220C>A c.1103C>A (p.Thr368Asn) c.1151C>A c.214C>A c.754C>A c.632C>A (p.Thr211Asn) c.1106C>A (p.Thr369Asn) c.959C>A (p.Thr320Asn) | gnomAD v4 |
| X | g.129562645C>G | CA414552820 | OCRL | c.*1395C>G (n.*1395C>G) c.1220C>G c.1103C>G (p.Thr368Ser) c.1151C>G c.214C>G c.754C>G c.632C>G (p.Thr211Ser) c.1106C>G (p.Thr369Ser) c.959C>G (p.Thr320Ser) | |
| X | g.129562645C>T | CA414552821 | OCRL | c.*1395C>T (n.*1395C>T) c.1220C>T c.1103C>T (p.Thr368Ile) c.1151C>T c.214C>T c.754C>T c.632C>T (p.Thr211Ile) c.1106C>T (p.Thr369Ile) c.959C>T (p.Thr320Ile) | |
| X | g.129562646C>A | CA518471511 | OCRL | c.*1396C>A (n.*1396C>A) c.1221C>A c.1104C>A (p.Thr368=) c.1152C>A c.215C>A c.755C>A c.633C>A (p.Thr211=) c.1107C>A (p.Thr369=) c.960C>A (p.Thr320=) | |
| X | g.129562646C= | CA2458099506 | OCRL | c.*1396C= (n.*1396C=) c.1221C= c.1104C= (p.Thr368=) c.1152C= c.215C= c.755C= c.633C= (p.Thr211=) c.1107C= (p.Thr369=) c.960C= (p.Thr320=) | |
| X | g.129562646C>G | CA518471513 | OCRL | c.*1396C>G (n.*1396C>G) c.1221C>G c.1104C>G (p.Thr368=) c.1152C>G c.215C>G c.755C>G c.633C>G (p.Thr211=) c.1107C>G (p.Thr369=) c.960C>G (p.Thr320=) | gnomAD v4 |
| X | g.129562646C>T | CA518471512 | OCRL | c.*1396C>T (n.*1396C>T) c.1221C>T c.1104C>T (p.Thr368=) c.1152C>T c.215C>T c.755C>T c.633C>T (p.Thr211=) c.1107C>T (p.Thr369=) c.960C>T (p.Thr320=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.129562647T>A | CA414552824 | OCRL | c.*1397T>A (n.*1397T>A) c.1222T>A c.1105T>A (p.Phe369Ile) c.1153T>A c.216T>A c.756T>A c.634T>A (p.Phe212Ile) c.1108T>A (p.Phe370Ile) c.961T>A (p.Phe321Ile) | |
| X | g.129562647T>C | CA414552823 | OCRL | c.*1397T>C (n.*1397T>C) c.1222T>C c.1105T>C (p.Phe369Leu) c.1153T>C c.216T>C c.756T>C c.634T>C (p.Phe212Leu) c.1108T>C (p.Phe370Leu) c.961T>C (p.Phe321Leu) | |
| X | g.129562647T>G | CA414552822 | OCRL | c.*1397T>G (n.*1397T>G) c.1222T>G c.1105T>G (p.Phe369Val) c.1153T>G c.216T>G c.756T>G c.634T>G (p.Phe212Val) c.1108T>G (p.Phe370Val) c.961T>G (p.Phe321Val) | |
| X | g.129562648T>A | CA414552825 | OCRL | c.*1398T>A (n.*1398T>A) c.1223T>A c.1106T>A (p.Phe369Tyr) c.1154T>A c.217T>A c.757T>A c.635T>A (p.Phe212Tyr) c.1109T>A (p.Phe370Tyr) c.962T>A (p.Phe321Tyr) | |
| X | g.129562648T>C | CA414552827 | OCRL | c.*1398T>C (n.*1398T>C) c.1223T>C c.1106T>C (p.Phe369Ser) c.1154T>C c.217T>C c.757T>C c.635T>C (p.Phe212Ser) c.1109T>C (p.Phe370Ser) c.962T>C (p.Phe321Ser) | |
| X | g.129562648T>G | CA414552826 | OCRL | c.*1398T>G (n.*1398T>G) c.1223T>G c.1106T>G (p.Phe369Cys) c.1154T>G c.217T>G c.757T>G c.635T>G (p.Phe212Cys) c.1109T>G (p.Phe370Cys) c.962T>G (p.Phe321Cys) | |
| X | g.129562649T>A | CA414552828 | OCRL | c.*1399T>A (n.*1399T>A) c.1224T>A c.1107T>A (p.Phe369Leu) c.1155T>A c.218T>A c.758T>A c.636T>A (p.Phe212Leu) c.1110T>A (p.Phe370Leu) c.963T>A (p.Phe321Leu) | |
| X | g.129562649T>C | CA518471514 | OCRL | c.*1399T>C (n.*1399T>C) c.1224T>C c.1107T>C (p.Phe369=) c.1155T>C c.218T>C c.758T>C c.636T>C (p.Phe212=) c.1110T>C (p.Phe370=) c.963T>C (p.Phe321=) | |
| X | g.129562649T>G | CA414552829 | OCRL | c.*1399T>G (n.*1399T>G) c.1224T>G c.1107T>G (p.Phe369Leu) c.1155T>G c.218T>G c.758T>G c.636T>G (p.Phe212Leu) c.1110T>G (p.Phe370Leu) c.963T>G (p.Phe321Leu) | |
| X | g.129562650T>A | CA414552830 | OCRL | c.*1400T>A (n.*1400T>A) c.1225T>A c.1108T>A (p.Cys370Ser) c.1156T>A c.219T>A c.759T>A c.637T>A (p.Cys213Ser) c.1111T>A (p.Cys371Ser) c.964T>A (p.Cys322Ser) | |
| X | g.129562650T>C | CA414552831 | OCRL | c.*1400T>C (n.*1400T>C) c.1225T>C c.1108T>C (p.Cys370Arg) c.1156T>C c.219T>C c.759T>C c.637T>C (p.Cys213Arg) c.1111T>C (p.Cys371Arg) c.964T>C (p.Cys322Arg) | |
| X | g.129562650T>G | CA414552832 | OCRL | c.*1400T>G (n.*1400T>G) c.1225T>G c.1108T>G (p.Cys370Gly) c.1156T>G c.219T>G c.759T>G c.637T>G (p.Cys213Gly) c.1111T>G (p.Cys371Gly) c.964T>G (p.Cys322Gly) | |
| X | g.129562651G>A | CA414552833 | OCRL | c.*1401G>A (n.*1401G>A) c.1226G>A c.1109G>A (p.Cys370Tyr) c.1157G>A c.220G>A c.760G>A c.638G>A (p.Cys213Tyr) c.1112G>A (p.Cys371Tyr) c.965G>A (p.Cys322Tyr) | |
| X | g.129562651G>C | CA414552834 | OCRL | c.*1401G>C (n.*1401G>C) c.1226G>C c.1109G>C (p.Cys370Ser) c.1157G>C c.220G>C c.760G>C c.638G>C (p.Cys213Ser) c.1112G>C (p.Cys371Ser) c.965G>C (p.Cys322Ser) | |
| X | g.129562651G>T | CA414552835 | OCRL | c.*1401G>T (n.*1401G>T) c.1226G>T c.1109G>T (p.Cys370Phe) c.1157G>T c.220G>T c.760G>T c.638G>T (p.Cys213Phe) c.1112G>T (p.Cys371Phe) c.965G>T (p.Cys322Phe) | |
| X | g.129562652C>A | CA414552836 | OCRL | c.*1402C>A (n.*1402C>A) c.1227C>A c.1110C>A (p.Cys370Ter) c.1158C>A c.221C>A c.761C>A c.639C>A (p.Cys213Ter) c.1113C>A (p.Cys371Ter) c.966C>A (p.Cys322Ter) | |
| X | g.129562652C= | CA2458099507 | OCRL | c.*1402C= (n.*1402C=) c.1227C= c.1110C= (p.Cys370=) c.1158C= c.221C= c.761C= c.639C= (p.Cys213=) c.1113C= (p.Cys371=) c.966C= (p.Cys322=) | |
| X | g.129562652C>G | CA414552837 | OCRL | c.*1402C>G (n.*1402C>G) c.1227C>G c.1110C>G (p.Cys370Trp) c.1158C>G c.221C>G c.761C>G c.639C>G (p.Cys213Trp) c.1113C>G (p.Cys371Trp) c.966C>G (p.Cys322Trp) | |
| X | g.129562652C>T | CA10512135 | OCRL | c.*1402C>T (n.*1402C>T) c.1227C>T c.1110C>T (p.Cys370=) c.1158C>T c.221C>T c.761C>T c.639C>T (p.Cys213=) c.1113C>T (p.Cys371=) c.966C>T (p.Cys322=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.129562653A>C | CA414552840 | OCRL | c.*1403A>C (n.*1403A>C) c.1228A>C c.1111A>C (p.Ile371Leu) c.1159A>C c.222A>C c.762A>C c.640A>C (p.Ile214Leu) c.1114A>C (p.Ile372Leu) c.967A>C (p.Ile323Leu) | |
| X | g.129562653A>G | CA414552838 | OCRL | c.*1403A>G (n.*1403A>G) c.1228A>G c.1111A>G (p.Ile371Val) c.1159A>G c.222A>G c.762A>G c.640A>G (p.Ile214Val) c.1114A>G (p.Ile372Val) c.967A>G (p.Ile323Val) | gnomAD v4 |
| X | g.129562653A>T | CA414552839 | OCRL | c.*1403A>T (n.*1403A>T) c.1228A>T c.1111A>T (p.Ile371Phe) c.1159A>T c.222A>T c.762A>T c.640A>T (p.Ile214Phe) c.1114A>T (p.Ile372Phe) c.967A>T (p.Ile323Phe) | |
| X | g.129562654T>A | CA414552841 | OCRL | c.*1404T>A (n.*1404T>A) c.1229T>A c.1112T>A (p.Ile371Asn) c.1160T>A c.223T>A c.763T>A c.641T>A (p.Ile214Asn) c.1115T>A (p.Ile372Asn) c.968T>A (p.Ile323Asn) | |
| X | g.129562654T>C | CA414552842 | OCRL | c.*1404T>C (n.*1404T>C) c.1229T>C c.1112T>C (p.Ile371Thr) c.1160T>C c.223T>C c.763T>C c.641T>C (p.Ile214Thr) c.1115T>C (p.Ile372Thr) c.968T>C (p.Ile323Thr) | |
| X | g.129562654T>G | CA414552843 | OCRL | c.*1404T>G (n.*1404T>G) c.1229T>G c.1112T>G (p.Ile371Ser) c.1160T>G c.223T>G c.763T>G c.641T>G (p.Ile214Ser) c.1115T>G (p.Ile372Ser) c.968T>G (p.Ile323Ser) | |
| X | g.129562655T>A | CA518471515 | OCRL | c.*1405T>A (n.*1405T>A) c.1230T>A c.1113T>A (p.Ile371=) c.1161T>A c.224T>A c.764T>A c.642T>A (p.Ile214=) c.1116T>A (p.Ile372=) c.969T>A (p.Ile323=) | |
| X | g.129562655T>C | CA518471516 | OCRL | c.*1405T>C (n.*1405T>C) c.1230T>C c.1113T>C (p.Ile371=) c.1161T>C c.224T>C c.764T>C c.642T>C (p.Ile214=) c.1116T>C (p.Ile372=) c.969T>C (p.Ile323=) | ClinVar |
| X | g.129562655T>G | CA414552844 | OCRL | c.*1405T>G (n.*1405T>G) c.1230T>G c.1113T>G (p.Ile371Met) c.1161T>G c.224T>G c.764T>G c.642T>G (p.Ile214Met) c.1116T>G (p.Ile372Met) c.969T>G (p.Ile323Met) | |
| X | g.129562656G>A | CA414552845 | OCRL | c.*1406G>A (n.*1406G>A) c.1231G>A c.1114G>A (p.Val372Ile) c.1162G>A c.225G>A c.765G>A c.643G>A (p.Val215Ile) c.1117G>A (p.Val373Ile) c.970G>A (p.Val324Ile) | |
| X | g.129562656G>C | CA414552846 | OCRL | c.*1406G>C (n.*1406G>C) c.1231G>C c.1114G>C (p.Val372Leu) c.1162G>C c.225G>C c.765G>C c.643G>C (p.Val215Leu) c.1117G>C (p.Val373Leu) c.970G>C (p.Val324Leu) | |
| X | g.129562656G>T | CA414552847 | OCRL | c.*1406G>T (n.*1406G>T) c.1231G>T c.1114G>T (p.Val372Phe) c.1162G>T c.225G>T c.765G>T c.643G>T (p.Val215Phe) c.1117G>T (p.Val373Phe) c.970G>T (p.Val324Phe) | |
| X | g.129562657T>A | CA414552848 | OCRL | c.*1407T>A (n.*1407T>A) c.1232T>A c.1115T>A (p.Val372Asp) c.1163T>A c.226T>A c.766T>A c.644T>A (p.Val215Asp) c.1118T>A (p.Val373Asp) c.971T>A (p.Val324Asp) | |
| X | g.129562657T>C | CA414552849 | OCRL | c.*1407T>C (n.*1407T>C) c.1232T>C c.1115T>C (p.Val372Ala) c.1163T>C c.226T>C c.766T>C c.644T>C (p.Val215Ala) c.1118T>C (p.Val373Ala) c.971T>C (p.Val324Ala) | |
| X | g.129562657T>G | CA266143 | OCRL | c.*1407T>G (n.*1407T>G) c.1232T>G c.1115T>G (p.Val372Gly) c.1163T>G c.226T>G c.766T>G c.644T>G (p.Val215Gly) c.1118T>G (p.Val373Gly) c.971T>G (p.Val324Gly) | ClinVar dbSNP |
| X | g.129562657T= | CA2458099508 | OCRL | c.*1407T= (n.*1407T=) c.1232T= c.1115T= (p.Val372=) c.1163T= c.226T= c.766T= c.644T= (p.Val215=) c.1118T= (p.Val373=) c.971T= (p.Val324=) | |
| X | g.129562658C>A | CA518471517 | OCRL | c.*1408C>A (n.*1408C>A) c.1233C>A c.1116C>A (p.Val372=) c.1164C>A c.227C>A c.767C>A c.645C>A (p.Val215=) c.1119C>A (p.Val373=) c.972C>A (p.Val324=) | |
| X | g.129562658C>G | CA518471518 | OCRL | c.*1408C>G (n.*1408C>G) c.1233C>G c.1116C>G (p.Val372=) c.1164C>G c.227C>G c.767C>G c.645C>G (p.Val215=) c.1119C>G (p.Val373=) c.972C>G (p.Val324=) | |
| X | g.129562658C>T | CA518471519 | OCRL | c.*1408C>T (n.*1408C>T) c.1233C>T c.1116C>T (p.Val372=) c.1164C>T c.227C>T c.767C>T c.645C>T (p.Val215=) c.1119C>T (p.Val373=) c.972C>T (p.Val324=) | gnomAD v4 |
| X | g.129562659A= | CA2458099509 | OCRL | c.*1409A= (n.*1409A=) c.1234A= c.1117A= (p.Asn373=) c.1165A= c.228A= c.768A= c.646A= (p.Asn216=) c.1120A= (p.Asn374=) c.973A= (p.Asn325=) | |
| X | g.129562659A>C | CA414552850 | OCRL | c.*1409A>C (n.*1409A>C) c.1234A>C c.1117A>C (p.Asn373His) c.1165A>C c.228A>C c.768A>C c.646A>C (p.Asn216His) c.1120A>C (p.Asn374His) c.973A>C (p.Asn325His) | |
| X | g.129562659A>G | CA414552851 | OCRL | c.*1409A>G (n.*1409A>G) c.1234A>G c.1117A>G (p.Asn373Asp) c.1165A>G c.228A>G c.768A>G c.646A>G (p.Asn216Asp) c.1120A>G (p.Asn374Asp) c.973A>G (p.Asn325Asp) | |
| X | g.129562659A>T | CA266144 | OCRL | c.*1409A>T (n.*1409A>T) c.1234A>T c.1117A>T (p.Asn373Tyr) c.1165A>T c.228A>T c.768A>T c.646A>T (p.Asn216Tyr) c.1120A>T (p.Asn374Tyr) c.973A>T (p.Asn325Tyr) | ClinVar dbSNP |
| X | g.129562660A>C | CA414552852 | OCRL | c.*1410A>C (n.*1410A>C) c.1235A>C c.1118A>C (p.Asn373Thr) c.1166A>C c.229A>C c.769A>C c.647A>C (p.Asn216Thr) c.1121A>C (p.Asn374Thr) c.974A>C (p.Asn325Thr) | |
| X | g.129562660A>G | CA414552853 | OCRL | c.*1410A>G (n.*1410A>G) c.1235A>G c.1118A>G (p.Asn373Ser) c.1166A>G c.229A>G c.769A>G c.647A>G (p.Asn216Ser) c.1121A>G (p.Asn374Ser) c.974A>G (p.Asn325Ser) | gnomAD v4 |
| X | g.129562660A>T | CA414552854 | OCRL | c.*1410A>T (n.*1410A>T) c.1235A>T c.1118A>T (p.Asn373Ile) c.1166A>T c.229A>T c.769A>T c.647A>T (p.Asn216Ile) c.1121A>T (p.Asn374Ile) c.974A>T (p.Asn325Ile) | |
| X | g.129562661T>A | CA414552855 | OCRL | c.*1411T>A (n.*1411T>A) c.1236T>A c.1119T>A (p.Asn373Lys) c.1167T>A c.230T>A c.770T>A c.648T>A (p.Asn216Lys) c.1122T>A (p.Asn374Lys) c.975T>A (p.Asn325Lys) | |
| X | g.129562661T>C | CA518471520 | OCRL | c.*1411T>C (n.*1411T>C) c.1236T>C c.1119T>C (p.Asn373=) c.1167T>C c.230T>C c.770T>C c.648T>C (p.Asn216=) c.1122T>C (p.Asn374=) c.975T>C (p.Asn325=) | |
| X | g.129562661T>G | CA414552856 | OCRL | c.*1411T>G (n.*1411T>G) c.1236T>G c.1119T>G (p.Asn373Lys) c.1167T>G c.230T>G c.770T>G c.648T>G (p.Asn216Lys) c.1122T>G (p.Asn374Lys) c.975T>G (p.Asn325Lys) | |
| X | g.129562662T>A | CA414552857 | OCRL | c.*1412T>A (n.*1412T>A) c.1237T>A c.1120T>A (p.Ser374Thr) c.1168T>A c.231T>A c.771T>A c.649T>A (p.Ser217Thr) c.1123T>A (p.Ser375Thr) c.976T>A (p.Ser326Thr) | |
| X | g.129562662T>C | CA414552858 | OCRL | c.*1412T>C (n.*1412T>C) c.1237T>C c.1120T>C (p.Ser374Pro) c.1168T>C c.231T>C c.771T>C c.649T>C (p.Ser217Pro) c.1123T>C (p.Ser375Pro) c.976T>C (p.Ser326Pro) | |
| X | g.129562662T>G | CA414552859 | OCRL | c.*1412T>G (n.*1412T>G) c.1237T>G c.1120T>G (p.Ser374Ala) c.1168T>G c.231T>G c.771T>G c.649T>G (p.Ser217Ala) c.1123T>G (p.Ser375Ala) c.976T>G (p.Ser326Ala) | |
| X | g.129562663C>A | CA414552860 | OCRL | c.*1413C>A (n.*1413C>A) c.1238C>A c.1121C>A (p.Ser374Tyr) c.1169C>A c.232C>A c.772C>A c.650C>A (p.Ser217Tyr) c.1124C>A (p.Ser375Tyr) c.977C>A (p.Ser326Tyr) | |
| X | g.129562663C= | CA2458099510 | OCRL | c.*1413C= (n.*1413C=) c.1238C= c.1121C= (p.Ser374=) c.1169C= c.232C= c.772C= c.650C= (p.Ser217=) c.1124C= (p.Ser375=) c.977C= (p.Ser326=) | |
| X | g.129562663C>G | CA414552861 | OCRL | c.*1413C>G (n.*1413C>G) c.1238C>G c.1121C>G (p.Ser374Cys) c.1169C>G c.232C>G c.772C>G c.650C>G (p.Ser217Cys) c.1124C>G (p.Ser375Cys) c.977C>G (p.Ser326Cys) | |
| X | g.129562663C>T | CA266145 | OCRL | c.*1413C>T (n.*1413C>T) c.1238C>T c.1121C>T (p.Ser374Phe) c.1169C>T c.232C>T c.772C>T c.650C>T (p.Ser217Phe) c.1124C>T (p.Ser375Phe) c.977C>T (p.Ser326Phe) | ClinVar dbSNP |
| X | g.129562664C>A | CA518471521 | OCRL | c.*1414C>A (n.*1414C>A) c.1239C>A c.1122C>A (p.Ser374=) c.1170C>A c.233C>A c.773C>A c.651C>A (p.Ser217=) c.1125C>A (p.Ser375=) c.978C>A (p.Ser326=) | |
| X | g.129562664C>G | CA518471522 | OCRL | c.*1414C>G (n.*1414C>G) c.1239C>G c.1122C>G (p.Ser374=) c.1170C>G c.233C>G c.773C>G c.651C>G (p.Ser217=) c.1125C>G (p.Ser375=) c.978C>G (p.Ser326=) | |
| X | g.129562664C>T | CA518471523 | OCRL | c.*1414C>T (n.*1414C>T) c.1239C>T c.1122C>T (p.Ser374=) c.1170C>T c.233C>T c.773C>T c.651C>T (p.Ser217=) c.1125C>T (p.Ser375=) c.978C>T (p.Ser326=) | ClinVar |
| X | g.129562665C>A | CA414552862 | OCRL | c.*1415C>A (n.*1415C>A) c.1240C>A c.1123C>A (p.His375Asn) c.1171C>A c.234C>A c.774C>A c.652C>A (p.His218Asn) c.1126C>A (p.His376Asn) c.979C>A (p.His327Asn) | |
| X | g.129562665C= | CA2458099511 | OCRL | c.*1415C= (n.*1415C=) c.1240C= c.1123C= (p.His375=) c.1171C= c.234C= c.774C= c.652C= (p.His218=) c.1126C= (p.His376=) c.979C= (p.His327=) | |
| X | g.129562665C>G | CA414552863 | OCRL | c.*1415C>G (n.*1415C>G) c.1240C>G c.1123C>G (p.His375Asp) c.1171C>G c.234C>G c.774C>G c.652C>G (p.His218Asp) c.1126C>G (p.His376Asp) c.979C>G (p.His327Asp) | |
| X | g.129562665C>T | CA266146 | OCRL | c.*1415C>T (n.*1415C>T) c.1240C>T c.1123C>T (p.His375Tyr) c.1171C>T c.234C>T c.774C>T c.652C>T (p.His218Tyr) c.1126C>T (p.His376Tyr) c.979C>T (p.His327Tyr) | ClinVar dbSNP |
| X | g.129562666A= | CA2458099512 | OCRL | c.*1416A= (n.*1416A=) c.1241A= c.1124A= (p.His375=) c.1172A= c.235A= c.775A= c.653A= (p.His218=) c.1127A= (p.His376=) c.980A= (p.His327=) | |
| X | g.129562666A>C | CA414552864 | OCRL | c.*1416A>C (n.*1416A>C) c.1241A>C c.1124A>C (p.His375Pro) c.1172A>C c.235A>C c.775A>C c.653A>C (p.His218Pro) c.1127A>C (p.His376Pro) c.980A>C (p.His327Pro) | |
| X | g.129562666A>G | CA16043211 | OCRL | c.*1416A>G (n.*1416A>G) c.1241A>G c.1124A>G (p.His375Arg) c.1172A>G c.235A>G c.775A>G c.653A>G (p.His218Arg) c.1127A>G (p.His376Arg) c.980A>G (p.His327Arg) | ClinVar dbSNP |
| X | g.129562666A>T | CA414552865 | OCRL | c.*1416A>T (n.*1416A>T) c.1241A>T c.1124A>T (p.His375Leu) c.1172A>T c.235A>T c.775A>T c.653A>T (p.His218Leu) c.1127A>T (p.His376Leu) c.980A>T (p.His327Leu) |