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 |
|---|---|---|---|---|---|
| 1 | g.119737177G>A | CA341851241 | PHGDH | c.856G>A (p.Ala286Thr) c.*509G>A (n.*509G>A) n.841G>A c.*692G>A (n.*692G>A) c.*600G>A (n.*600G>A) c.612G>A c.*682G>A (n.*682G>A) n.796G>A n.978G>A c.754G>A (p.Ala252Thr) c.1078G>A (p.Ala360Thr) c.1000G>A (p.Ala334Thr) c.967G>A (p.Ala323Thr) c.793G>A (p.Ala265Thr) c.571G>A (p.Ala191Thr) c.562G>A (p.Ala188Thr) | |
| 1 | g.119737177G>C | CA170846 | PHGDH | c.856G>C (p.Ala286Pro) c.*509G>C (n.*509G>C) n.841G>C c.*692G>C (n.*692G>C) c.*600G>C (n.*600G>C) c.612G>C c.*682G>C (n.*682G>C) n.796G>C n.978G>C c.754G>C (p.Ala252Pro) c.1078G>C (p.Ala360Pro) c.1000G>C (p.Ala334Pro) c.967G>C (p.Ala323Pro) c.793G>C (p.Ala265Pro) c.571G>C (p.Ala191Pro) c.562G>C (p.Ala188Pro) | ClinVar dbSNP |
| 1 | g.119737177G= | CA1148224510 | PHGDH | c.856G= (p.Ala286=) c.*509G= (n.*509G=) n.841G= c.*692G= (n.*692G=) c.*600G= (n.*600G=) c.612G= c.*682G= (n.*682G=) n.796G= n.978G= c.754G= (p.Ala252=) c.1078G= (p.Ala360=) c.1000G= (p.Ala334=) c.967G= (p.Ala323=) c.793G= (p.Ala265=) c.571G= (p.Ala191=) c.562G= (p.Ala188=) | |
| 1 | g.119737177G>T | CA341851243 | PHGDH | c.856G>T (p.Ala286Ser) c.*509G>T (n.*509G>T) n.841G>T c.*692G>T (n.*692G>T) c.*600G>T (n.*600G>T) c.612G>T c.*682G>T (n.*682G>T) n.796G>T n.978G>T c.754G>T (p.Ala252Ser) c.1078G>T (p.Ala360Ser) c.1000G>T (p.Ala334Ser) c.967G>T (p.Ala323Ser) c.793G>T (p.Ala265Ser) c.571G>T (p.Ala191Ser) c.562G>T (p.Ala188Ser) | |
| 1 | g.119737178C>A | CA341851244 | PHGDH | c.857C>A (p.Ala286Asp) c.*510C>A (n.*510C>A) n.842C>A c.*693C>A (n.*693C>A) c.*601C>A (n.*601C>A) c.613C>A c.*683C>A (n.*683C>A) n.797C>A n.979C>A c.755C>A (p.Ala252Asp) c.1079C>A (p.Ala360Asp) c.1001C>A (p.Ala334Asp) c.968C>A (p.Ala323Asp) c.794C>A (p.Ala265Asp) c.572C>A (p.Ala191Asp) c.563C>A (p.Ala188Asp) | |
| 1 | g.119737178C= | CA1192434170 | PHGDH | c.857C= (p.Ala286=) c.*510C= (n.*510C=) n.842C= c.*693C= (n.*693C=) c.*601C= (n.*601C=) c.613C= c.*683C= (n.*683C=) n.797C= n.979C= c.755C= (p.Ala252=) c.1079C= (p.Ala360=) c.1001C= (p.Ala334=) c.968C= (p.Ala323=) c.794C= (p.Ala265=) c.572C= (p.Ala191=) c.563C= (p.Ala188=) | |
| 1 | g.119737178C>G | CA341851246 | PHGDH | c.857C>G (p.Ala286Gly) c.*510C>G (n.*510C>G) n.842C>G c.*693C>G (n.*693C>G) c.*601C>G (n.*601C>G) c.613C>G c.*683C>G (n.*683C>G) n.797C>G n.979C>G c.755C>G (p.Ala252Gly) c.1079C>G (p.Ala360Gly) c.1001C>G (p.Ala334Gly) c.968C>G (p.Ala323Gly) c.794C>G (p.Ala265Gly) c.572C>G (p.Ala191Gly) c.563C>G (p.Ala188Gly) | |
| 1 | g.119737178C>T | CA341851245 | PHGDH | c.857C>T (p.Ala286Val) c.*510C>T (n.*510C>T) n.842C>T c.*693C>T (n.*693C>T) c.*601C>T (n.*601C>T) c.613C>T c.*683C>T (n.*683C>T) n.797C>T n.979C>T c.755C>T (p.Ala252Val) c.1079C>T (p.Ala360Val) c.1001C>T (p.Ala334Val) c.968C>T (p.Ala323Val) c.794C>T (p.Ala265Val) c.572C>T (p.Ala191Val) c.563C>T (p.Ala188Val) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.119737179C>A | CA420013974 | PHGDH | c.858C>A (p.Ala286=) c.*511C>A (n.*511C>A) n.843C>A c.*694C>A (n.*694C>A) c.*602C>A (n.*602C>A) c.614C>A c.*684C>A (n.*684C>A) n.798C>A n.980C>A c.756C>A (p.Ala252=) c.1080C>A (p.Ala360=) c.1002C>A (p.Ala334=) c.969C>A (p.Ala323=) c.795C>A (p.Ala265=) c.573C>A (p.Ala191=) c.564C>A (p.Ala188=) | gnomAD v4 |
| 1 | g.119737179C= | CA1192434172 | PHGDH | c.858C= (p.Ala286=) c.*511C= (n.*511C=) n.843C= c.*694C= (n.*694C=) c.*602C= (n.*602C=) c.614C= c.*684C= (n.*684C=) n.798C= n.980C= c.756C= (p.Ala252=) c.1080C= (p.Ala360=) c.1002C= (p.Ala334=) c.969C= (p.Ala323=) c.795C= (p.Ala265=) c.573C= (p.Ala191=) c.564C= (p.Ala188=) | |
| 1 | g.119737179C>G | CA420013976 | PHGDH | c.858C>G (p.Ala286=) c.*511C>G (n.*511C>G) n.843C>G c.*694C>G (n.*694C>G) c.*602C>G (n.*602C>G) c.614C>G c.*684C>G (n.*684C>G) n.798C>G n.980C>G c.756C>G (p.Ala252=) c.1080C>G (p.Ala360=) c.1002C>G (p.Ala334=) c.969C>G (p.Ala323=) c.795C>G (p.Ala265=) c.573C>G (p.Ala191=) c.564C>G (p.Ala188=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.119737179C>T | CA420013978 | PHGDH | c.858C>T (p.Ala286=) c.*511C>T (n.*511C>T) n.843C>T c.*694C>T (n.*694C>T) c.*602C>T (n.*602C>T) c.614C>T c.*684C>T (n.*684C>T) n.798C>T n.980C>T c.756C>T (p.Ala252=) c.1080C>T (p.Ala360=) c.1002C>T (p.Ala334=) c.969C>T (p.Ala323=) c.795C>T (p.Ala265=) c.573C>T (p.Ala191=) c.564C>T (p.Ala188=) | |
| 1 | g.119737179_119737180delinsCA | CA1192434174 | PHGDH | c.858_859delinsCA (p.Ala286=) c.*511_*512delinsCA (n.*511_*512delinsCA) n.843_844delinsCA c.*694_*695delinsCA (n.*694_*695delinsCA) c.*602_*603delinsCA (n.*602_*603delinsCA) c.614_615delinsCA c.*684_*685delinsCA (n.*684_*685delinsCA) n.798_799delinsCA n.980_981delinsCA c.756_757delinsCA (p.Ala252=) c.1080_1081delinsCA (p.Ala360=) c.1002_1003delinsCA (p.Ala334=) c.969_970delinsCA (p.Ala323=) c.795_796delinsCA (p.Ala265=) c.573_574delinsCA (p.Ala191=) c.564_565delinsCA (p.Ala188=) | |
| 1 | g.119737180del | CA526249573 | PHGDH | c.859del (p.Ser287AlafsTer21) c.*512del (n.*512del) n.844del c.*695del (n.*695del) c.*603del (n.*603del) c.615del c.*685del (n.*685del) n.799del n.981del c.757del (p.Ser253AlafsTer21) c.1081del (p.Ser361AlafsTer21) c.1003del (p.Ser335AlafsTer21) c.970del (p.Ser324AlafsTer21) c.796del (p.Ser266AlafsTer21) c.574del (p.Ser192AlafsTer21) c.565del (p.Ser189AlafsTer21) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.119737180A>C | CA341851247 | PHGDH | c.859A>C (p.Ser287Arg) c.*512A>C (n.*512A>C) n.844A>C c.*695A>C (n.*695A>C) c.*603A>C (n.*603A>C) c.615A>C c.*685A>C (n.*685A>C) n.799A>C n.981A>C c.757A>C (p.Ser253Arg) c.1081A>C (p.Ser361Arg) c.1003A>C (p.Ser335Arg) c.970A>C (p.Ser324Arg) c.796A>C (p.Ser266Arg) c.574A>C (p.Ser192Arg) c.565A>C (p.Ser189Arg) | |
| 1 | g.119737180A>G | CA341851248 | PHGDH | c.859A>G (p.Ser287Gly) c.*512A>G (n.*512A>G) n.844A>G c.*695A>G (n.*695A>G) c.*603A>G (n.*603A>G) c.615A>G c.*685A>G (n.*685A>G) n.799A>G n.981A>G c.757A>G (p.Ser253Gly) c.1081A>G (p.Ser361Gly) c.1003A>G (p.Ser335Gly) c.970A>G (p.Ser324Gly) c.796A>G (p.Ser266Gly) c.574A>G (p.Ser192Gly) c.565A>G (p.Ser189Gly) | |
| 1 | g.119737180A>T | CA341851249 | PHGDH | c.859A>T (p.Ser287Cys) c.*512A>T (n.*512A>T) n.844A>T c.*695A>T (n.*695A>T) c.*603A>T (n.*603A>T) c.615A>T c.*685A>T (n.*685A>T) n.799A>T n.981A>T c.757A>T (p.Ser253Cys) c.1081A>T (p.Ser361Cys) c.1003A>T (p.Ser335Cys) c.970A>T (p.Ser324Cys) c.796A>T (p.Ser266Cys) c.574A>T (p.Ser192Cys) c.565A>T (p.Ser189Cys) | |
| 1 | g.119737181G>A | CA341851250 | PHGDH | c.860G>A (p.Ser287Asn) c.*513G>A (n.*513G>A) n.845G>A c.*696G>A (n.*696G>A) c.*604G>A (n.*604G>A) c.616G>A c.*686G>A (n.*686G>A) n.800G>A n.982G>A c.758G>A (p.Ser253Asn) c.1082G>A (p.Ser361Asn) c.1004G>A (p.Ser335Asn) c.971G>A (p.Ser324Asn) c.797G>A (p.Ser266Asn) c.575G>A (p.Ser192Asn) c.566G>A (p.Ser189Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.119737181G>C | CA341851251 | PHGDH | c.860G>C (p.Ser287Thr) c.*513G>C (n.*513G>C) n.845G>C c.*696G>C (n.*696G>C) c.*604G>C (n.*604G>C) c.616G>C c.*686G>C (n.*686G>C) n.800G>C n.982G>C c.758G>C (p.Ser253Thr) c.1082G>C (p.Ser361Thr) c.1004G>C (p.Ser335Thr) c.971G>C (p.Ser324Thr) c.797G>C (p.Ser266Thr) c.575G>C (p.Ser192Thr) c.566G>C (p.Ser189Thr) | |
| 1 | g.119737181G= | CA1192434176 | PHGDH | c.860G= (p.Ser287=) c.*513G= (n.*513G=) n.845G= c.*696G= (n.*696G=) c.*604G= (n.*604G=) c.616G= c.*686G= (n.*686G=) n.800G= n.982G= c.758G= (p.Ser253=) c.1082G= (p.Ser361=) c.1004G= (p.Ser335=) c.971G= (p.Ser324=) c.797G= (p.Ser266=) c.575G= (p.Ser192=) c.566G= (p.Ser189=) | |
| 1 | g.119737181G>T | CA341851252 | PHGDH | c.860G>T (p.Ser287Ile) c.*513G>T (n.*513G>T) n.845G>T c.*696G>T (n.*696G>T) c.*604G>T (n.*604G>T) c.616G>T c.*686G>T (n.*686G>T) n.800G>T n.982G>T c.758G>T (p.Ser253Ile) c.1082G>T (p.Ser361Ile) c.1004G>T (p.Ser335Ile) c.971G>T (p.Ser324Ile) c.797G>T (p.Ser266Ile) c.575G>T (p.Ser192Ile) c.566G>T (p.Ser189Ile) | |
| 1 | g.119737182C>A | CA341851253 | PHGDH | c.861C>A (p.Ser287Arg) c.*514C>A (n.*514C>A) n.846C>A c.*697C>A (n.*697C>A) c.*605C>A (n.*605C>A) c.617C>A c.*687C>A (n.*687C>A) n.801C>A n.983C>A c.759C>A (p.Ser253Arg) c.1083C>A (p.Ser361Arg) c.1005C>A (p.Ser335Arg) c.972C>A (p.Ser324Arg) c.798C>A (p.Ser266Arg) c.576C>A (p.Ser192Arg) c.567C>A (p.Ser189Arg) | |
| 1 | g.119737182C>G | CA341851254 | PHGDH | c.861C>G (p.Ser287Arg) c.*514C>G (n.*514C>G) n.846C>G c.*697C>G (n.*697C>G) c.*605C>G (n.*605C>G) c.617C>G c.*687C>G (n.*687C>G) n.801C>G n.983C>G c.759C>G (p.Ser253Arg) c.1083C>G (p.Ser361Arg) c.1005C>G (p.Ser335Arg) c.972C>G (p.Ser324Arg) c.798C>G (p.Ser266Arg) c.576C>G (p.Ser192Arg) c.567C>G (p.Ser189Arg) | |
| 1 | g.119737182C>T | CA420013987 | PHGDH | c.861C>T (p.Ser287=) c.*514C>T (n.*514C>T) n.846C>T c.*697C>T (n.*697C>T) c.*605C>T (n.*605C>T) c.617C>T c.*687C>T (n.*687C>T) n.801C>T n.983C>T c.759C>T (p.Ser253=) c.1083C>T (p.Ser361=) c.1005C>T (p.Ser335=) c.972C>T (p.Ser324=) c.798C>T (p.Ser266=) c.576C>T (p.Ser192=) c.567C>T (p.Ser189=) | |
| 1 | g.119737183A>C | CA341851255 | PHGDH | c.862A>C (p.Thr288Pro) c.*515A>C (n.*515A>C) n.847A>C c.*698A>C (n.*698A>C) c.*606A>C (n.*606A>C) c.618A>C c.*688A>C (n.*688A>C) n.802A>C n.984A>C c.760A>C (p.Thr254Pro) c.1084A>C (p.Thr362Pro) c.1006A>C (p.Thr336Pro) c.973A>C (p.Thr325Pro) c.799A>C (p.Thr267Pro) c.577A>C (p.Thr193Pro) c.568A>C (p.Thr190Pro) | |
| 1 | g.119737183A>G | CA341851256 | PHGDH | c.862A>G (p.Thr288Ala) c.*515A>G (n.*515A>G) n.847A>G c.*698A>G (n.*698A>G) c.*606A>G (n.*606A>G) c.618A>G c.*688A>G (n.*688A>G) n.802A>G n.984A>G c.760A>G (p.Thr254Ala) c.1084A>G (p.Thr362Ala) c.1006A>G (p.Thr336Ala) c.973A>G (p.Thr325Ala) c.799A>G (p.Thr267Ala) c.577A>G (p.Thr193Ala) c.568A>G (p.Thr190Ala) | |
| 1 | g.119737183A>T | CA341851257 | PHGDH | c.862A>T (p.Thr288Ser) c.*515A>T (n.*515A>T) n.847A>T c.*698A>T (n.*698A>T) c.*606A>T (n.*606A>T) c.618A>T c.*688A>T (n.*688A>T) n.802A>T n.984A>T c.760A>T (p.Thr254Ser) c.1084A>T (p.Thr362Ser) c.1006A>T (p.Thr336Ser) c.973A>T (p.Thr325Ser) c.799A>T (p.Thr267Ser) c.577A>T (p.Thr193Ser) c.568A>T (p.Thr190Ser) | |
| 1 | g.119737184C>A | CA341851258 | PHGDH | c.863C>A (p.Thr288Asn) c.*516C>A (n.*516C>A) n.848C>A c.*699C>A (n.*699C>A) c.*607C>A (n.*607C>A) c.619C>A c.*689C>A (n.*689C>A) n.803C>A n.985C>A c.761C>A (p.Thr254Asn) c.1085C>A (p.Thr362Asn) c.1007C>A (p.Thr336Asn) c.974C>A (p.Thr325Asn) c.800C>A (p.Thr267Asn) c.578C>A (p.Thr193Asn) c.569C>A (p.Thr190Asn) | |
| 1 | g.119737184C>G | CA341851260 | PHGDH | c.863C>G (p.Thr288Ser) c.*516C>G (n.*516C>G) n.848C>G c.*699C>G (n.*699C>G) c.*607C>G (n.*607C>G) c.619C>G c.*689C>G (n.*689C>G) n.803C>G n.985C>G c.761C>G (p.Thr254Ser) c.1085C>G (p.Thr362Ser) c.1007C>G (p.Thr336Ser) c.974C>G (p.Thr325Ser) c.800C>G (p.Thr267Ser) c.578C>G (p.Thr193Ser) c.569C>G (p.Thr190Ser) | gnomAD v4 |
| 1 | g.119737184C>T | CA341851259 | PHGDH | c.863C>T (p.Thr288Ile) c.*516C>T (n.*516C>T) n.848C>T c.*699C>T (n.*699C>T) c.*607C>T (n.*607C>T) c.619C>T c.*689C>T (n.*689C>T) n.803C>T n.985C>T c.761C>T (p.Thr254Ile) c.1085C>T (p.Thr362Ile) c.1007C>T (p.Thr336Ile) c.974C>T (p.Thr325Ile) c.800C>T (p.Thr267Ile) c.578C>T (p.Thr193Ile) c.569C>T (p.Thr190Ile) | dbSNP |
| 1 | g.119737185C>A | CA420013991 | PHGDH | c.864C>A (p.Thr288=) c.*517C>A (n.*517C>A) n.849C>A c.*700C>A (n.*700C>A) c.*608C>A (n.*608C>A) c.620C>A c.*690C>A (n.*690C>A) n.804C>A n.986C>A c.762C>A (p.Thr254=) c.1086C>A (p.Thr362=) c.1008C>A (p.Thr336=) c.975C>A (p.Thr325=) c.801C>A (p.Thr267=) c.579C>A (p.Thr193=) c.570C>A (p.Thr190=) | |
| 1 | g.119737185C>G | CA420013992 | PHGDH | c.864C>G (p.Thr288=) c.*517C>G (n.*517C>G) n.849C>G c.*700C>G (n.*700C>G) c.*608C>G (n.*608C>G) c.620C>G c.*690C>G (n.*690C>G) n.804C>G n.986C>G c.762C>G (p.Thr254=) c.1086C>G (p.Thr362=) c.1008C>G (p.Thr336=) c.975C>G (p.Thr325=) c.801C>G (p.Thr267=) c.579C>G (p.Thr193=) c.570C>G (p.Thr190=) | |
| 1 | g.119737185C>T | CA420013994 | PHGDH | c.864C>T (p.Thr288=) c.*517C>T (n.*517C>T) n.849C>T c.*700C>T (n.*700C>T) c.*608C>T (n.*608C>T) c.620C>T c.*690C>T (n.*690C>T) n.804C>T n.986C>T c.762C>T (p.Thr254=) c.1086C>T (p.Thr362=) c.1008C>T (p.Thr336=) c.975C>T (p.Thr325=) c.801C>T (p.Thr267=) c.579C>T (p.Thr193=) c.570C>T (p.Thr190=) | |
| 1 | g.119737186A= | CA1192434177 | PHGDH | c.865A= (p.Lys289=) c.*518A= (n.*518A=) n.850A= c.*701A= (n.*701A=) c.*609A= (n.*609A=) c.621A= c.*691A= (n.*691A=) n.805A= n.987A= c.763A= (p.Lys255=) c.1087A= (p.Lys363=) c.1009A= (p.Lys337=) c.976A= (p.Lys326=) c.802A= (p.Lys268=) c.580A= (p.Lys194=) c.571A= (p.Lys191=) | |
| 1 | g.119737186A>C | CA341851261 | PHGDH | c.865A>C (p.Lys289Gln) c.*518A>C (n.*518A>C) n.850A>C c.*701A>C (n.*701A>C) c.*609A>C (n.*609A>C) c.621A>C c.*691A>C (n.*691A>C) n.805A>C n.987A>C c.763A>C (p.Lys255Gln) c.1087A>C (p.Lys363Gln) c.1009A>C (p.Lys337Gln) c.976A>C (p.Lys326Gln) c.802A>C (p.Lys268Gln) c.580A>C (p.Lys194Gln) c.571A>C (p.Lys191Gln) | |
| 1 | g.119737186A>G | CA341851263 | PHGDH | c.865A>G (p.Lys289Glu) c.*518A>G (n.*518A>G) n.850A>G c.*701A>G (n.*701A>G) c.*609A>G (n.*609A>G) c.621A>G c.*691A>G (n.*691A>G) n.805A>G n.987A>G c.763A>G (p.Lys255Glu) c.1087A>G (p.Lys363Glu) c.1009A>G (p.Lys337Glu) c.976A>G (p.Lys326Glu) c.802A>G (p.Lys268Glu) c.580A>G (p.Lys194Glu) c.571A>G (p.Lys191Glu) | dbSNP gnomAD v4 |
| 1 | g.119737186A>T | CA341851262 | PHGDH | c.865A>T (p.Lys289Ter) c.*518A>T (n.*518A>T) n.850A>T c.*701A>T (n.*701A>T) c.*609A>T (n.*609A>T) c.621A>T c.*691A>T (n.*691A>T) n.805A>T n.987A>T c.763A>T (p.Lys255Ter) c.1087A>T (p.Lys363Ter) c.1009A>T (p.Lys337Ter) c.976A>T (p.Lys326Ter) c.802A>T (p.Lys268Ter) c.580A>T (p.Lys194Ter) c.571A>T (p.Lys191Ter) | |
| 1 | g.119737187A>C | CA341851264 | PHGDH | c.866A>C (p.Lys289Thr) c.*519A>C (n.*519A>C) n.851A>C c.*702A>C (n.*702A>C) c.*610A>C (n.*610A>C) c.622A>C c.*692A>C (n.*692A>C) n.806A>C n.988A>C c.764A>C (p.Lys255Thr) c.1088A>C (p.Lys363Thr) c.1010A>C (p.Lys337Thr) c.977A>C (p.Lys326Thr) c.803A>C (p.Lys268Thr) c.581A>C (p.Lys194Thr) c.572A>C (p.Lys191Thr) | |
| 1 | g.119737187A>G | CA341851265 | PHGDH | c.866A>G (p.Lys289Arg) c.*519A>G (n.*519A>G) n.851A>G c.*702A>G (n.*702A>G) c.*610A>G (n.*610A>G) c.622A>G c.*692A>G (n.*692A>G) n.806A>G n.988A>G c.764A>G (p.Lys255Arg) c.1088A>G (p.Lys363Arg) c.1010A>G (p.Lys337Arg) c.977A>G (p.Lys326Arg) c.803A>G (p.Lys268Arg) c.581A>G (p.Lys194Arg) c.572A>G (p.Lys191Arg) | |
| 1 | g.119737187A>T | CA341851266 | PHGDH | c.866A>T (p.Lys289Met) c.*519A>T (n.*519A>T) n.851A>T c.*702A>T (n.*702A>T) c.*610A>T (n.*610A>T) c.622A>T c.*692A>T (n.*692A>T) n.806A>T n.988A>T c.764A>T (p.Lys255Met) c.1088A>T (p.Lys363Met) c.1010A>T (p.Lys337Met) c.977A>T (p.Lys326Met) c.803A>T (p.Lys268Met) c.581A>T (p.Lys194Met) c.572A>T (p.Lys191Met) | |
| 1 | g.119737188G>A | CA420014002 | PHGDH | c.867G>A (p.Lys289=) c.*520G>A (n.*520G>A) n.852G>A c.*703G>A (n.*703G>A) c.*611G>A (n.*611G>A) c.623G>A c.*693G>A (n.*693G>A) n.807G>A n.989G>A c.765G>A (p.Lys255=) c.1089G>A (p.Lys363=) c.1011G>A (p.Lys337=) c.978G>A (p.Lys326=) c.804G>A (p.Lys268=) c.582G>A (p.Lys194=) c.573G>A (p.Lys191=) | |
| 1 | g.119737188G>C | CA341851267 | PHGDH | c.867G>C (p.Lys289Asn) c.*520G>C (n.*520G>C) n.852G>C c.*703G>C (n.*703G>C) c.*611G>C (n.*611G>C) c.623G>C c.*693G>C (n.*693G>C) n.807G>C n.989G>C c.765G>C (p.Lys255Asn) c.1089G>C (p.Lys363Asn) c.1011G>C (p.Lys337Asn) c.978G>C (p.Lys326Asn) c.804G>C (p.Lys268Asn) c.582G>C (p.Lys194Asn) c.573G>C (p.Lys191Asn) | |
| 1 | g.119737188G>T | CA341851268 | PHGDH | c.867G>T (p.Lys289Asn) c.*520G>T (n.*520G>T) n.852G>T c.*703G>T (n.*703G>T) c.*611G>T (n.*611G>T) c.623G>T c.*693G>T (n.*693G>T) n.807G>T n.989G>T c.765G>T (p.Lys255Asn) c.1089G>T (p.Lys363Asn) c.1011G>T (p.Lys337Asn) c.978G>T (p.Lys326Asn) c.804G>T (p.Lys268Asn) c.582G>T (p.Lys194Asn) c.573G>T (p.Lys191Asn) | |
| 1 | g.119737189G>A | CA341851269 | PHGDH | c.868G>A (p.Glu290Lys) c.*521G>A (n.*521G>A) n.853G>A c.*704G>A (n.*704G>A) c.*612G>A (n.*612G>A) c.624G>A c.*694G>A (n.*694G>A) n.808G>A n.990G>A c.766G>A (p.Glu256Lys) c.1090G>A (p.Glu364Lys) c.1012G>A (p.Glu338Lys) c.979G>A (p.Glu327Lys) c.805G>A (p.Glu269Lys) c.583G>A (p.Glu195Lys) c.574G>A (p.Glu192Lys) | ClinVar dbSNP |
| 1 | g.119737189G>C | CA341851271 | PHGDH | c.868G>C (p.Glu290Gln) c.*521G>C (n.*521G>C) n.853G>C c.*704G>C (n.*704G>C) c.*612G>C (n.*612G>C) c.624G>C c.*694G>C (n.*694G>C) n.808G>C n.990G>C c.766G>C (p.Glu256Gln) c.1090G>C (p.Glu364Gln) c.1012G>C (p.Glu338Gln) c.979G>C (p.Glu327Gln) c.805G>C (p.Glu269Gln) c.583G>C (p.Glu195Gln) c.574G>C (p.Glu192Gln) | |
| 1 | g.119737189G>T | CA341851272 | PHGDH | c.868G>T (p.Glu290Ter) c.*521G>T (n.*521G>T) n.853G>T c.*704G>T (n.*704G>T) c.*612G>T (n.*612G>T) c.624G>T c.*694G>T (n.*694G>T) n.808G>T n.990G>T c.766G>T (p.Glu256Ter) c.1090G>T (p.Glu364Ter) c.1012G>T (p.Glu338Ter) c.979G>T (p.Glu327Ter) c.805G>T (p.Glu269Ter) c.583G>T (p.Glu195Ter) c.574G>T (p.Glu192Ter) | |
| 1 | g.119737190A>C | CA341851274 | PHGDH | c.869A>C (p.Glu290Ala) c.*522A>C (n.*522A>C) n.854A>C c.*705A>C (n.*705A>C) c.*613A>C (n.*613A>C) c.625A>C c.*695A>C (n.*695A>C) n.809A>C n.991A>C c.767A>C (p.Glu256Ala) c.1091A>C (p.Glu364Ala) c.1013A>C (p.Glu338Ala) c.980A>C (p.Glu327Ala) c.806A>C (p.Glu269Ala) c.584A>C (p.Glu195Ala) c.575A>C (p.Glu192Ala) | |
| 1 | g.119737190A>G | CA341851276 | PHGDH | c.869A>G (p.Glu290Gly) c.*522A>G (n.*522A>G) n.854A>G c.*705A>G (n.*705A>G) c.*613A>G (n.*613A>G) c.625A>G c.*695A>G (n.*695A>G) n.809A>G n.991A>G c.767A>G (p.Glu256Gly) c.1091A>G (p.Glu364Gly) c.1013A>G (p.Glu338Gly) c.980A>G (p.Glu327Gly) c.806A>G (p.Glu269Gly) c.584A>G (p.Glu195Gly) c.575A>G (p.Glu192Gly) | |
| 1 | g.119737190A>T | CA341851277 | PHGDH | c.869A>T (p.Glu290Val) c.*522A>T (n.*522A>T) n.854A>T c.*705A>T (n.*705A>T) c.*613A>T (n.*613A>T) c.625A>T c.*695A>T (n.*695A>T) n.809A>T n.991A>T c.767A>T (p.Glu256Val) c.1091A>T (p.Glu364Val) c.1013A>T (p.Glu338Val) c.980A>T (p.Glu327Val) c.806A>T (p.Glu269Val) c.584A>T (p.Glu195Val) c.575A>T (p.Glu192Val) | |
| 1 | g.119737191G>A | CA420014006 | PHGDH | c.870G>A (p.Glu290=) c.*523G>A (n.*523G>A) n.855G>A c.*706G>A (n.*706G>A) c.*614G>A (n.*614G>A) c.626G>A c.*696G>A (n.*696G>A) n.810G>A n.992G>A c.768G>A (p.Glu256=) c.1092G>A (p.Glu364=) c.1014G>A (p.Glu338=) c.981G>A (p.Glu327=) c.807G>A (p.Glu269=) c.585G>A (p.Glu195=) c.576G>A (p.Glu192=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |