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 |
|---|---|---|---|---|---|
| 10 | g.3781655T>A | CA375868261 | KLF6 | c.662A>T (p.Gln221Leu) n.257+140A>T c.550+112A>T (n.550+112A>T) n.789+140A>T n.717+140A>T | |
| 10 | g.3781655T>C | CA375868262 | KLF6 | c.662A>G (p.Gln221Arg) n.257+140A>G c.550+112A>G (n.550+112A>G) n.789+140A>G n.717+140A>G | |
| 10 | g.3781655T>G | CA375868263 | KLF6 | c.662A>C (p.Gln221Pro) n.257+140A>C c.550+112A>C (n.550+112A>C) n.789+140A>C n.717+140A>C | |
| 10 | g.3781656G>A | CA375868264 | KLF6 | c.661C>T (p.Gln221Ter) n.257+139C>T c.550+111C>T (n.550+111C>T) n.789+139C>T n.717+139C>T | |
| 10 | g.3781656G>C | CA375868265 | KLF6 | c.661C>G (p.Gln221Glu) n.257+139C>G c.550+111C>G (n.550+111C>G) n.789+139C>G n.717+139C>G | |
| 10 | g.3781656G>T | CA375868266 | KLF6 | c.661C>A (p.Gln221Lys) n.257+139C>A c.550+111C>A (n.550+111C>A) n.789+139C>A n.717+139C>A | |
| 10 | g.3781657G>A | CA5388739 | KLF6 | c.660C>T (p.His220=) n.257+138C>T c.550+110C>T (n.550+110C>T) n.789+138C>T n.717+138C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.3781657G>C | CA375868267 | KLF6 | c.660C>G (p.His220Gln) n.257+138C>G c.550+110C>G (n.550+110C>G) n.789+138C>G n.717+138C>G | |
| 10 | g.3781657G= | CA1886882170 | KLF6 | c.660C= (p.His220=) n.257+138C= c.550+110C= (n.550+110C=) n.789+138C= n.717+138C= | |
| 10 | g.3781657G>T | CA375868268 | KLF6 | c.660C>A (p.His220Gln) n.257+138C>A c.550+110C>A (n.550+110C>A) n.789+138C>A n.717+138C>A | COSMIC COSMIC |
| 10 | g.3781658T>A | CA375868269 | KLF6 | c.659A>T (p.His220Leu) n.257+137A>T c.550+109A>T (n.550+109A>T) n.789+137A>T n.717+137A>T | |
| 10 | g.3781658T>C | CA375868270 | KLF6 | c.659A>G (p.His220Arg) n.257+137A>G c.550+109A>G (n.550+109A>G) n.789+137A>G n.717+137A>G | |
| 10 | g.3781658T>G | CA375868271 | KLF6 | c.659A>C (p.His220Pro) n.257+137A>C c.550+109A>C (n.550+109A>C) n.789+137A>C n.717+137A>C | |
| 10 | g.3781659G>A | CA375868272 | KLF6 | c.658C>T (p.His220Tyr) n.257+136C>T c.550+108C>T (n.550+108C>T) n.789+136C>T n.717+136C>T | |
| 10 | g.3781659G>C | CA375868273 | KLF6 | c.658C>G (p.His220Asp) n.257+136C>G c.550+108C>G (n.550+108C>G) n.789+136C>G n.717+136C>G | |
| 10 | g.3781659G>T | CA375868274 | KLF6 | c.658C>A (p.His220Asn) n.257+136C>A c.550+108C>A (n.550+108C>A) n.789+136C>A n.717+136C>A | |
| 10 | g.3781659_3781660insGATAAACTCGCGGGTGCCATTACGGGCGGACTCATCGGCATTACGGCAATCTGGGTCGGCATGACGAGCGGCGCAACGGCGGCGACGATTACGCCGGAGAACCTTTTCAACTTCAAACTCGTGATGTT | CA2571585086 | KLF6 | c.657_658insAACATCACGAGTTTGAAGTTGAAAAGGTTCTCCGGCGTAATCGTCGCCGCCGTTGCGCCGCTCGTCATGCCGACCCAGATTGCCGTAATGCCGATGAGTCCGCCCGTAATGGCACCCGCGAGTTTATC (p.His220AsnfsTer71) n.257+135_257+136insAACATCACGAGTTTGAAGTTGAAAAGGTTCTCCGGCGTAATCGTCGCCGCCGTTGCGCCGCTCGTCATGCCGACCCAGATTGCCGTAATGCCGATGAGTCCGCCCGTAATGGCACCCGCGAGTTTATC c.657_658insAACATCACGAGTTTGAAGTTGAAAAGGTTCTCCGGCGTAATCGTCGCCGCCGTTGCGCCGCTCGTCATGCCGACCCAGATTGCCGTAATGCCGATGAGTCCGCCCGTAATGGCACCCGCGAGTTTATC (p.His220AsnfsTer?) c.657_658insAACATCACGAGTTTGAAGTTGAAAAGGTTCTCCGGCGTAATCGTCGCCGCCGTTGCGCCGCTCGTCATGCCGACCCAGATTGCCGTAATGCCGATGAGTCCGCCCGTAATGGCACCCGCGAGTTTATC (p.His220AsnfsTer55) c.550+107_550+108insAACATCACGAGTTTGAAGTTGAAAAGGTTCTCCGGCGTAATCGTCGCCGCCGTTGCGCCGCTCGTCATGCCGACCCAGATTGCCGTAATGCCGATGAGTCCGCCCGTAATGGCACCCGCGAGTTTATC (n.550+107_550+108insAACATCACGAGTTTGAAGTTGAAAAGGTTCTCCGGCGTAATCGTCGCCGCCGTTGCGCCGCTCGTCATGCCGACCCAGATTGCCGTAATGCCGATGAGTCCGCCCGTAATGGCACCCGCGAGTTTATC) n.789+135_789+136insAACATCACGAGTTTGAAGTTGAAAAGGTTCTCCGGCGTAATCGTCGCCGCCGTTGCGCCGCTCGTCATGCCGACCCAGATTGCCGTAATGCCGATGAGTCCGCCCGTAATGGCACCCGCGAGTTTATC n.717+135_717+136insAACATCACGAGTTTGAAGTTGAAAAGGTTCTCCGGCGTAATCGTCGCCGCCGTTGCGCCGCTCGTCATGCCGACCCAGATTGCCGTAATGCCGATGAGTCCGCCCGTAATGGCACCCGCGAGTTTATC | |
| 10 | g.3781660T>A | CA468166524 | KLF6 | c.657A>T (p.Ala219=) n.257+135A>T c.550+107A>T (n.550+107A>T) n.789+135A>T n.717+135A>T | |
| 10 | g.3781660T>C | CA468166525 | KLF6 | c.657A>G (p.Ala219=) n.257+135A>G c.550+107A>G (n.550+107A>G) n.789+135A>G n.717+135A>G | |
| 10 | g.3781660T>G | CA468166526 | KLF6 | c.657A>C (p.Ala219=) n.257+135A>C c.550+107A>C (n.550+107A>C) n.789+135A>C n.717+135A>C | dbSNP |
| 10 | g.3781660T= | CA1886882171 | KLF6 | c.657A= (p.Ala219=) n.257+135A= c.550+107A= (n.550+107A=) n.789+135A= n.717+135A= | |
| 10 | g.3781661G>A | CA375868276 | KLF6 | c.656C>T (p.Ala219Val) n.257+134C>T c.550+106C>T (n.550+106C>T) n.789+134C>T n.717+134C>T | |
| 10 | g.3781661G>C | CA375868277 | KLF6 | c.656C>G (p.Ala219Gly) n.257+134C>G c.550+106C>G (n.550+106C>G) n.789+134C>G n.717+134C>G | |
| 10 | g.3781661G>T | CA375868275 | KLF6 | c.656C>A (p.Ala219Glu) n.257+134C>A c.550+106C>A (n.550+106C>A) n.789+134C>A n.717+134C>A | |
| 10 | g.3781662C>A | CA375868278 | KLF6 | c.655G>T (p.Ala219Ser) n.257+133G>T c.550+105G>T (n.550+105G>T) n.789+133G>T n.717+133G>T | |
| 10 | g.3781662C>G | CA375868280 | KLF6 | c.655G>C (p.Ala219Pro) n.257+133G>C c.550+105G>C (n.550+105G>C) n.789+133G>C n.717+133G>C | |
| 10 | g.3781662C>T | CA375868279 | KLF6 | c.655G>A (p.Ala219Thr) n.257+133G>A c.550+105G>A (n.550+105G>A) n.789+133G>A n.717+133G>A | |
| 10 | g.3781663T>A | CA375868281 | KLF6 | c.654A>T (p.Lys218Asn) n.257+132A>T c.550+104A>T (n.550+104A>T) n.789+132A>T n.717+132A>T | |
| 10 | g.3781663T>C | CA468166527 | KLF6 | c.654A>G (p.Lys218=) n.257+132A>G c.550+104A>G (n.550+104A>G) n.789+132A>G n.717+132A>G | |
| 10 | g.3781663T>G | CA375868282 | KLF6 | c.654A>C (p.Lys218Asn) n.257+132A>C c.550+104A>C (n.550+104A>C) n.789+132A>C n.717+132A>C | |
| 10 | g.3781664T>A | CA375868283 | KLF6 | c.653A>T (p.Lys218Ile) n.257+131A>T c.550+103A>T (n.550+103A>T) n.789+131A>T n.717+131A>T | |
| 10 | g.3781664T>C | CA375868284 | KLF6 | c.653A>G (p.Lys218Arg) n.257+131A>G c.550+103A>G (n.550+103A>G) n.789+131A>G n.717+131A>G | |
| 10 | g.3781664T>G | CA375868285 | KLF6 | c.653A>C (p.Lys218Thr) n.257+131A>C c.550+103A>C (n.550+103A>C) n.789+131A>C n.717+131A>C | |
| 10 | g.3781665T>A | CA375868286 | KLF6 | c.652A>T (p.Lys218Ter) n.257+130A>T c.550+102A>T (n.550+102A>T) n.789+130A>T n.717+130A>T | |
| 10 | g.3781665T>C | CA375868287 | KLF6 | c.652A>G (p.Lys218Glu) n.257+130A>G c.550+102A>G (n.550+102A>G) n.789+130A>G n.717+130A>G | |
| 10 | g.3781665T>G | CA375868288 | KLF6 | c.652A>C (p.Lys218Gln) n.257+130A>C c.550+102A>C (n.550+102A>C) n.789+130A>C n.717+130A>C | |
| 10 | g.3781666C>A | CA375868289 | KLF6 | c.651G>T (p.Leu217Phe) n.257+129G>T c.550+101G>T (n.550+101G>T) n.789+129G>T n.717+129G>T | |
| 10 | g.3781666C= | CA1886882172 | KLF6 | c.651G= (p.Leu217=) n.257+129G= c.550+101G= (n.550+101G=) n.789+129G= n.717+129G= | |
| 10 | g.3781666C>G | CA375868290 | KLF6 | c.651G>C (p.Leu217Phe) n.257+129G>C c.550+101G>C (n.550+101G>C) n.789+129G>C n.717+129G>C | |
| 10 | g.3781666C>T | CA201345205 | KLF6 | c.651G>A (p.Leu217=) n.257+129G>A c.550+101G>A (n.550+101G>A) n.789+129G>A n.717+129G>A | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.3781667A>C | CA375868291 | KLF6 | c.650T>G (p.Leu217Trp) n.257+128T>G c.550+100T>G (n.550+100T>G) n.789+128T>G n.717+128T>G | |
| 10 | g.3781667A>G | CA375868292 | KLF6 | c.650T>C (p.Leu217Ser) n.257+128T>C c.550+100T>C (n.550+100T>C) n.789+128T>C n.717+128T>C | |
| 10 | g.3781667A>T | CA375868293 | KLF6 | c.650T>A (p.Leu217Ter) n.257+128T>A c.550+100T>A (n.550+100T>A) n.789+128T>A n.717+128T>A | |
| 10 | g.3781668A>C | CA375868294 | KLF6 | c.649T>G (p.Leu217Val) n.257+127T>G c.550+99T>G (n.550+99T>G) n.789+127T>G n.717+127T>G | |
| 10 | g.3781668A>G | CA468166528 | KLF6 | c.649T>C (p.Leu217=) n.257+127T>C c.550+99T>C (n.550+99T>C) n.789+127T>C n.717+127T>C | |
| 10 | g.3781668A>T | CA375868295 | KLF6 | c.649T>A (p.Leu217Met) n.257+127T>A c.550+99T>A (n.550+99T>A) n.789+127T>A n.717+127T>A | |
| 10 | g.3781669G>A | CA468166529 | KLF6 | c.648C>T (p.His216=) n.257+126C>T c.550+98C>T (n.550+98C>T) n.789+126C>T n.717+126C>T | |
| 10 | g.3781669G>C | CA375868297 | KLF6 | c.648C>G (p.His216Gln) n.257+126C>G c.550+98C>G (n.550+98C>G) n.789+126C>G n.717+126C>G | |
| 10 | g.3781669G>T | CA375868296 | KLF6 | c.648C>A (p.His216Gln) n.257+126C>A c.550+98C>A (n.550+98C>A) n.789+126C>A n.717+126C>A | |
| 10 | g.3781670T>A | CA375868298 | KLF6 | c.647A>T (p.His216Leu) n.257+125A>T c.550+97A>T (n.550+97A>T) n.789+125A>T n.717+125A>T |