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 |
|---|---|---|---|---|---|
| 7 | g.66638956del | CA130027 | KCTD7 | c.554del (p.Pro185HisfsTer5) c.505+27del c.397+27del (n.397+27del) c.419del c.398del c.594del (p.Ile199SerfsTer?) c.*457del (n.*457del) c.437+27del c.101del c.567+27del (n.567+27del) | ClinVar dbSNP |
| 7 | g.66638956C>A | CA456057152 | KCTD7 | c.554C>A (p.Pro185Gln) c.505+27C>A c.397+27C>A (n.397+27C>A) c.419C>A c.398C>A c.594C>A (p.Pro198=) c.*457C>A (n.*457C>A) c.437+27C>A c.101C>A c.567+27C>A (n.567+27C>A) | |
| 7 | g.66638956C= | CA1714178837 | KCTD7 | c.554C= (p.Pro185=) c.505+27C= c.397+27C= (n.397+27C=) c.419C= c.398C= c.594C= (p.Pro198=) c.*457C= (n.*457C=) c.437+27C= c.101C= c.567+27C= (n.567+27C=) | |
| 7 | g.66638956C>G | CA456057153 | KCTD7 | c.554C>G (p.Pro185Arg) c.505+27C>G c.397+27C>G (n.397+27C>G) c.419C>G c.398C>G c.594C>G (p.Pro198=) c.*457C>G (n.*457C>G) c.437+27C>G c.101C>G c.567+27C>G (n.567+27C>G) | ClinVar dbSNP |
| 7 | g.66638956C>T | CA4278296 | KCTD7 | c.554C>T (p.Pro185Leu) c.505+27C>T c.397+27C>T (n.397+27C>T) c.419C>T c.398C>T c.594C>T (p.Pro198=) c.*457C>T (n.*457C>T) c.437+27C>T c.101C>T c.567+27C>T (n.567+27C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.66638957A= | CA1714178840 | KCTD7 | c.555A= (p.Pro185=) c.505+28A= c.397+28A= (n.397+28A=) c.420A= c.399A= c.595A= (p.Ile199=) c.*458A= (n.*458A=) c.437+28A= c.102A= c.567+28A= (n.567+28A=) | |
| 7 | g.66638957A>C | CA367696912 | KCTD7 | c.555A>C (p.Pro185=) c.505+28A>C c.397+28A>C (n.397+28A>C) c.420A>C c.399A>C c.595A>C (p.Ile199Leu) c.*458A>C (n.*458A>C) c.437+28A>C c.102A>C c.567+28A>C (n.567+28A>C) | |
| 7 | g.66638957A>G | CA367696913 | KCTD7 | c.555A>G (p.Pro185=) c.505+28A>G c.397+28A>G (n.397+28A>G) c.420A>G c.399A>G c.595A>G (p.Ile199Val) c.*458A>G (n.*458A>G) c.437+28A>G c.102A>G c.567+28A>G (n.567+28A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.66638957A>T | CA367696914 | KCTD7 | c.555A>T (p.Pro185=) c.505+28A>T c.397+28A>T (n.397+28A>T) c.420A>T c.399A>T c.595A>T (p.Ile199Phe) c.*458A>T (n.*458A>T) c.437+28A>T c.102A>T c.567+28A>T (n.567+28A>T) | |
| 7 | g.66638958T>A | CA367696917 | KCTD7 | c.556T>A (p.Ser186Thr) c.505+29T>A c.397+29T>A (n.397+29T>A) c.421T>A c.400T>A c.596T>A (p.Ile199Asn) c.*459T>A (n.*459T>A) c.437+29T>A c.103T>A c.567+29T>A (n.567+29T>A) | |
| 7 | g.66638958T>C | CA367696918 | KCTD7 | c.556T>C (p.Ser186Pro) c.505+29T>C c.397+29T>C (n.397+29T>C) c.421T>C c.400T>C c.596T>C (p.Ile199Thr) c.*459T>C (n.*459T>C) c.437+29T>C c.103T>C c.567+29T>C (n.567+29T>C) | |
| 7 | g.66638958T>G | CA367696916 | KCTD7 | c.556T>G (p.Ser186Ala) c.505+29T>G c.397+29T>G (n.397+29T>G) c.421T>G c.400T>G c.596T>G (p.Ile199Ser) c.*459T>G (n.*459T>G) c.437+29T>G c.103T>G c.567+29T>G (n.567+29T>G) | |
| 7 | g.66638959C>A | CA456057158 | KCTD7 | c.557C>A (p.Ser186Ter) c.505+30C>A c.397+30C>A (n.397+30C>A) c.422C>A c.401C>A c.597C>A (p.Ile199=) c.*460C>A (n.*460C>A) c.437+30C>A c.104C>A c.567+30C>A (n.567+30C>A) | |
| 7 | g.66638959C>G | CA367696920 | KCTD7 | c.557C>G (p.Ser186Ter) c.505+30C>G c.397+30C>G (n.397+30C>G) c.422C>G c.401C>G c.597C>G (p.Ile199Met) c.*460C>G (n.*460C>G) c.437+30C>G c.104C>G c.567+30C>G (n.567+30C>G) | |
| 7 | g.66638959C>T | CA456057159 | KCTD7 | c.557C>T (p.Ser186Leu) c.505+30C>T c.397+30C>T (n.397+30C>T) c.422C>T c.401C>T c.597C>T (p.Ile199=) c.*460C>T (n.*460C>T) c.437+30C>T c.104C>T c.567+30C>T (n.567+30C>T) | |
| 7 | g.66638960A>C | CA367696921 | KCTD7 | c.558A>C (p.Ser186=) c.505+31A>C c.397+31A>C (n.397+31A>C) c.423A>C c.402A>C c.598A>C (p.Thr200Pro) c.*461A>C (n.*461A>C) c.437+31A>C c.105A>C c.567+31A>C (n.567+31A>C) | |
| 7 | g.66638960A>G | CA367696923 | KCTD7 | c.558A>G (p.Ser186=) c.505+31A>G c.397+31A>G (n.397+31A>G) c.423A>G c.402A>G c.598A>G (p.Thr200Ala) c.*461A>G (n.*461A>G) c.437+31A>G c.105A>G c.567+31A>G (n.567+31A>G) | |
| 7 | g.66638960A>T | CA367696925 | KCTD7 | c.558A>T (p.Ser186=) c.505+31A>T c.397+31A>T (n.397+31A>T) c.423A>T c.402A>T c.598A>T (p.Thr200Ser) c.*461A>T (n.*461A>T) c.437+31A>T c.105A>T c.567+31A>T (n.567+31A>T) | |
| 7 | g.66638961C>A | CA367696926 | KCTD7 | c.559C>A (p.Pro187Thr) c.505+32C>A c.397+32C>A (n.397+32C>A) c.424C>A c.403C>A c.599C>A (p.Thr200Asn) c.*462C>A (n.*462C>A) c.437+32C>A c.106C>A c.567+32C>A (n.567+32C>A) | |
| 7 | g.66638961C>G | CA367696927 | KCTD7 | c.559C>G (p.Pro187Ala) c.505+32C>G c.397+32C>G (n.397+32C>G) c.424C>G c.403C>G c.599C>G (p.Thr200Ser) c.*462C>G (n.*462C>G) c.437+32C>G c.106C>G c.567+32C>G (n.567+32C>G) | |
| 7 | g.66638961C>T | CA367696929 | KCTD7 | c.559C>T (p.Pro187Ser) c.505+32C>T c.397+32C>T (n.397+32C>T) c.424C>T c.403C>T c.599C>T (p.Thr200Ile) c.*462C>T (n.*462C>T) c.437+32C>T c.106C>T c.567+32C>T (n.567+32C>T) | |
| 7 | g.66638962C>A | CA4278297 | KCTD7 | c.560C>A (p.Pro187His) c.505+33C>A c.397+33C>A (n.397+33C>A) c.425C>A c.404C>A c.600C>A (p.Thr200=) c.*463C>A (n.*463C>A) c.437+33C>A c.107C>A c.567+33C>A (n.567+33C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.66638962C= | CA1714178843 | KCTD7 | c.560C= (p.Pro187=) c.505+33C= c.397+33C= (n.397+33C=) c.425C= c.404C= c.600C= (p.Thr200=) c.*463C= (n.*463C=) c.437+33C= c.107C= c.567+33C= (n.567+33C=) | |
| 7 | g.66638962C>G | CA456057294 | KCTD7 | c.560C>G (p.Pro187Arg) c.505+33C>G c.397+33C>G (n.397+33C>G) c.425C>G c.404C>G c.600C>G (p.Thr200=) c.*463C>G (n.*463C>G) c.437+33C>G c.107C>G c.567+33C>G (n.567+33C>G) | gnomAD v4 |
| 7 | g.66638962C>T | CA456057295 | KCTD7 | c.560C>T (p.Pro187Leu) c.505+33C>T c.397+33C>T (n.397+33C>T) c.425C>T c.404C>T c.600C>T (p.Thr200=) c.*463C>T (n.*463C>T) c.437+33C>T c.107C>T c.567+33C>T (n.567+33C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.66638963C>A | CA367696931 | KCTD7 | c.561C>A (p.Pro187=) c.505+34C>A c.397+34C>A (n.397+34C>A) c.426C>A c.405C>A c.601C>A (p.Pro201Thr) c.*464C>A (n.*464C>A) c.437+34C>A c.108C>A c.567+34C>A (n.567+34C>A) | ClinVar dbSNP |
| 7 | g.66638963C>G | CA367696933 | KCTD7 | c.561C>G (p.Pro187=) c.505+34C>G c.397+34C>G (n.397+34C>G) c.426C>G c.405C>G c.601C>G (p.Pro201Ala) c.*464C>G (n.*464C>G) c.437+34C>G c.108C>G c.567+34C>G (n.567+34C>G) | |
| 7 | g.66638963C>T | CA367696934 | KCTD7 | c.561C>T (p.Pro187=) c.505+34C>T c.397+34C>T (n.397+34C>T) c.426C>T c.405C>T c.601C>T (p.Pro201Ser) c.*464C>T (n.*464C>T) c.437+34C>T c.108C>T c.567+34C>T (n.567+34C>T) | |
| 7 | g.66638964C>A | CA367696935 | KCTD7 | c.562C>A (p.Pro188Thr) c.505+35C>A c.397+35C>A (n.397+35C>A) c.427C>A c.406C>A c.602C>A (p.Pro201His) c.*465C>A (n.*465C>A) c.437+35C>A c.109C>A c.567+35C>A (n.567+35C>A) | gnomAD v4 |
| 7 | g.66638964C= | CA1714178844 | KCTD7 | c.562C= (p.Pro188=) c.505+35C= c.397+35C= (n.397+35C=) c.427C= c.406C= c.602C= (p.Pro201=) c.*465C= (n.*465C=) c.437+35C= c.109C= c.567+35C= (n.567+35C=) | |
| 7 | g.66638964C>G | CA4278298 | KCTD7 | c.562C>G (p.Pro188Ala) c.505+35C>G c.397+35C>G (n.397+35C>G) c.427C>G c.406C>G c.602C>G (p.Pro201Arg) c.*465C>G (n.*465C>G) c.437+35C>G c.109C>G c.567+35C>G (n.567+35C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.66638964C>T | CA367696938 | KCTD7 | c.562C>T (p.Pro188Ser) c.505+35C>T c.397+35C>T (n.397+35C>T) c.427C>T c.406C>T c.602C>T (p.Pro201Leu) c.*465C>T (n.*465C>T) c.437+35C>T c.109C>T c.567+35C>T (n.567+35C>T) | |
| 7 | g.66638965C>A | CA456057308 | KCTD7 | c.563C>A (p.Pro188His) c.505+36C>A c.397+36C>A (n.397+36C>A) c.428C>A c.407C>A c.603C>A (p.Pro201=) c.*466C>A (n.*466C>A) c.437+36C>A c.110C>A c.567+36C>A (n.567+36C>A) | |
| 7 | g.66638965C= | CA1714178846 | KCTD7 | c.563C= (p.Pro188=) c.505+36C= c.397+36C= (n.397+36C=) c.428C= c.407C= c.603C= (p.Pro201=) c.*466C= (n.*466C=) c.437+36C= c.110C= c.567+36C= (n.567+36C=) | |
| 7 | g.66638965C>G | CA4278299 | KCTD7 | c.563C>G (p.Pro188Arg) c.505+36C>G c.397+36C>G (n.397+36C>G) c.428C>G c.407C>G c.603C>G (p.Pro201=) c.*466C>G (n.*466C>G) c.437+36C>G c.110C>G c.567+36C>G (n.567+36C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.66638965C>T | CA456057306 | KCTD7 | c.563C>T (p.Pro188Leu) c.505+36C>T c.397+36C>T (n.397+36C>T) c.428C>T c.407C>T c.603C>T (p.Pro201=) c.*466C>T (n.*466C>T) c.437+36C>T c.110C>T c.567+36C>T (n.567+36C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.66638965_66638966delinsCT | CA1714178848 | KCTD7 | c.563_564delinsCT (p.Pro188=) c.505+36_505+37delinsCT c.397+36_397+37delinsCT (n.397+36_397+37delinsCT) c.428_429delinsCT c.407_408delinsCT c.603_604delinsCT (p.Pro201=) c.*466_*467delinsCT (n.*466_*467delinsCT) c.437+36_437+37delinsCT c.110_111delinsCT c.567+36_567+37delinsCT (n.567+36_567+37delinsCT) | |
| 7 | g.66638966del | CA4278300 | KCTD7 | c.564del (p.Met189Ter) c.505+37del c.397+37del (n.397+37del) c.429del c.408del c.604del (p.Tyr202MetfsTer?) c.*467del (n.*467del) c.437+37del c.111del c.567+37del (n.567+37del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.66638966T>A | CA367696939 | KCTD7 | c.564T>A (p.Pro188=) c.505+37T>A c.397+37T>A (n.397+37T>A) c.429T>A c.408T>A c.604T>A (p.Tyr202Asn) c.*467T>A (n.*467T>A) c.437+37T>A c.111T>A c.567+37T>A (n.567+37T>A) | |
| 7 | g.66638966T>C | CA367696942 | KCTD7 | c.564T>C (p.Pro188=) c.505+37T>C c.397+37T>C (n.397+37T>C) c.429T>C c.408T>C c.604T>C (p.Tyr202His) c.*467T>C (n.*467T>C) c.437+37T>C c.111T>C c.567+37T>C (n.567+37T>C) | |
| 7 | g.66638966T>G | CA367696941 | KCTD7 | c.564T>G (p.Pro188=) c.505+37T>G c.397+37T>G (n.397+37T>G) c.429T>G c.408T>G c.604T>G (p.Tyr202Asp) c.*467T>G (n.*467T>G) c.437+37T>G c.111T>G c.567+37T>G (n.567+37T>G) | |
| 7 | g.66638967A= | CA1714178851 | KCTD7 | c.565A= (p.Met189=) c.505+38A= c.397+38A= (n.397+38A=) c.430A= c.409A= c.605A= (p.Tyr202=) c.*468A= (n.*468A=) c.437+38A= c.112A= c.567+38A= (n.567+38A=) | |
| 7 | g.66638967A>C | CA367696944 | KCTD7 | c.565A>C (p.Met189Leu) c.505+38A>C c.397+38A>C (n.397+38A>C) c.430A>C c.409A>C c.605A>C (p.Tyr202Ser) c.*468A>C (n.*468A>C) c.437+38A>C c.112A>C c.567+38A>C (n.567+38A>C) | |
| 7 | g.66638967A>G | CA367696946 | KCTD7 | c.565A>G (p.Met189Val) c.505+38A>G c.397+38A>G (n.397+38A>G) c.430A>G c.409A>G c.605A>G (p.Tyr202Cys) c.*468A>G (n.*468A>G) c.437+38A>G c.112A>G c.567+38A>G (n.567+38A>G) | ClinVar dbSNP |
| 7 | g.66638967A>T | CA367696947 | KCTD7 | c.565A>T (p.Met189Leu) c.505+38A>T c.397+38A>T (n.397+38A>T) c.430A>T c.409A>T c.605A>T (p.Tyr202Phe) c.*468A>T (n.*468A>T) c.437+38A>T c.112A>T c.567+38A>T (n.567+38A>T) | |
| 7 | g.66638968T>A | CA367696948 | KCTD7 | c.566T>A (p.Met189Lys) c.505+39T>A c.397+39T>A (n.397+39T>A) c.431T>A c.410T>A c.606T>A (p.Tyr202Ter) c.*469T>A (n.*469T>A) c.437+39T>A c.113T>A c.567+39T>A (n.567+39T>A) | |
| 7 | g.66638968T>C | CA4278301 | KCTD7 | c.566T>C (p.Met189Thr) c.505+39T>C c.397+39T>C (n.397+39T>C) c.431T>C c.410T>C c.606T>C (p.Tyr202=) c.*469T>C (n.*469T>C) c.437+39T>C c.113T>C c.567+39T>C (n.567+39T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.66638968T>G | CA367696950 | KCTD7 | c.566T>G (p.Met189Arg) c.505+39T>G c.397+39T>G (n.397+39T>G) c.431T>G c.410T>G c.606T>G (p.Tyr202Ter) c.*469T>G (n.*469T>G) c.437+39T>G c.113T>G c.567+39T>G (n.567+39T>G) | |
| 7 | g.66638968T= | CA1714178853 | KCTD7 | c.566T= (p.Met189=) c.505+39T= c.397+39T= (n.397+39T=) c.431T= c.410T= c.606T= (p.Tyr202=) c.*469T= (n.*469T=) c.437+39T= c.113T= c.567+39T= (n.567+39T=) | |
| 7 | g.66638969G>A | CA367696952 | KCTD7 | c.567G>A (p.Met189Ile) c.505+40G>A c.397+40G>A (n.397+40G>A) c.432G>A c.411G>A c.607G>A (p.Glu203Lys) c.*470G>A (n.*470G>A) c.437+40G>A c.114G>A c.567+40G>A (n.567+40G>A) |