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.209790545A>C | CA344575296 | IRF6 | c.1010T>G (p.Ile337Ser) c.*437T>G (n.*437T>G) c.*520T>G (n.*520T>G) c.725T>G (p.Ile242Ser) | |
| 1 | g.209790545A>G | CA344575289 | IRF6 | c.1010T>C (p.Ile337Thr) c.*437T>C (n.*437T>C) c.*520T>C (n.*520T>C) c.725T>C (p.Ile242Thr) | |
| 1 | g.209790545A>T | CA344575293 | IRF6 | c.1010T>A (p.Ile337Asn) c.*437T>A (n.*437T>A) c.*520T>A (n.*520T>A) c.725T>A (p.Ile242Asn) | |
| 1 | g.209790546T>A | CA344575299 | IRF6 | c.1009A>T (p.Ile337Phe) c.*436A>T (n.*436A>T) c.*519A>T (n.*519A>T) c.724A>T (p.Ile242Phe) | |
| 1 | g.209790546T>C | CA344575301 | IRF6 | c.1009A>G (p.Ile337Val) c.*436A>G (n.*436A>G) c.*519A>G (n.*519A>G) c.724A>G (p.Ile242Val) | |
| 1 | g.209790546T>G | CA344575303 | IRF6 | c.1009A>C (p.Ile337Leu) c.*436A>C (n.*436A>C) c.*519A>C (n.*519A>C) c.724A>C (p.Ile242Leu) | |
| 1 | g.209790547C>A | CA423143233 | IRF6 | c.1008G>T (p.Leu336=) c.*435G>T (n.*435G>T) c.*518G>T (n.*518G>T) c.723G>T (p.Leu241=) | |
| 1 | g.209790547C>G | CA423143234 | IRF6 | c.1008G>C (p.Leu336=) c.*435G>C (n.*435G>C) c.*518G>C (n.*518G>C) c.723G>C (p.Leu241=) | |
| 1 | g.209790547C>T | CA423143235 | IRF6 | c.1008G>A (p.Leu336=) c.*435G>A (n.*435G>A) c.*518G>A (n.*518G>A) c.723G>A (p.Leu241=) | |
| 1 | g.209790548A= | CA2484365526 | IRF6 | c.1007T= (p.Leu336=) c.*434T= (n.*434T=) c.*517T= (n.*517T=) c.722T= (p.Leu241=) | |
| 1 | g.209790548A>C | CA1377223 | IRF6 | c.1007T>G (p.Leu336Arg) c.*434T>G (n.*434T>G) c.*517T>G (n.*517T>G) c.722T>G (p.Leu241Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209790548A>G | CA344575308 | IRF6 | c.1007T>C (p.Leu336Pro) c.*434T>C (n.*434T>C) c.*517T>C (n.*517T>C) c.722T>C (p.Leu241Pro) | |
| 1 | g.209790548A>T | CA344575310 | IRF6 | c.1007T>A (p.Leu336Gln) c.*434T>A (n.*434T>A) c.*517T>A (n.*517T>A) c.722T>A (p.Leu241Gln) | |
| 1 | g.209790549G>A | CA423143239 | IRF6 | c.1006C>T (p.Leu336=) c.*433C>T (n.*433C>T) c.*516C>T (n.*516C>T) c.721C>T (p.Leu241=) | gnomAD v4 |
| 1 | g.209790549G>C | CA344575313 | IRF6 | c.1006C>G (p.Leu336Val) c.*433C>G (n.*433C>G) c.*516C>G (n.*516C>G) c.721C>G (p.Leu241Val) | |
| 1 | g.209790549G>T | CA344575315 | IRF6 | c.1006C>A (p.Leu336Met) c.*433C>A (n.*433C>A) c.*516C>A (n.*516C>A) c.721C>A (p.Leu241Met) | gnomAD v4 |
| 1 | g.209790550G>A | CA423143243 | IRF6 | c.1005C>T (p.Asn335=) c.*432C>T (n.*432C>T) c.*515C>T (n.*515C>T) c.720C>T (p.Asn240=) | |
| 1 | g.209790550G>C | CA344575318 | IRF6 | c.1005C>G (p.Asn335Lys) c.*432C>G (n.*432C>G) c.*515C>G (n.*515C>G) c.720C>G (p.Asn240Lys) | |
| 1 | g.209790550G>T | CA344575319 | IRF6 | c.1005C>A (p.Asn335Lys) c.*432C>A (n.*432C>A) c.*515C>A (n.*515C>A) c.720C>A (p.Asn240Lys) | |
| 1 | g.209790551T>A | CA344575322 | IRF6 | c.1004A>T (p.Asn335Ile) c.*431A>T (n.*431A>T) c.*514A>T (n.*514A>T) c.719A>T (p.Asn240Ile) | |
| 1 | g.209790551T>C | CA344575324 | IRF6 | c.1004A>G (p.Asn335Ser) c.*431A>G (n.*431A>G) c.*514A>G (n.*514A>G) c.719A>G (p.Asn240Ser) | |
| 1 | g.209790551T>G | CA344575327 | IRF6 | c.1004A>C (p.Asn335Thr) c.*431A>C (n.*431A>C) c.*514A>C (n.*514A>C) c.719A>C (p.Asn240Thr) | |
| 1 | g.209790552T>A | CA344575329 | IRF6 | c.1003A>T (p.Asn335Tyr) c.*430A>T (n.*430A>T) c.*513A>T (n.*513A>T) c.718A>T (p.Asn240Tyr) | |
| 1 | g.209790552T>C | CA344575333 | IRF6 | c.1003A>G (p.Asn335Asp) c.*430A>G (n.*430A>G) c.*513A>G (n.*513A>G) c.718A>G (p.Asn240Asp) | ClinVar |
| 1 | g.209790552T>G | CA344575331 | IRF6 | c.1003A>C (p.Asn335His) c.*430A>C (n.*430A>C) c.*513A>C (n.*513A>C) c.718A>C (p.Asn240His) | dbSNP |
| 1 | g.209790552T= | CA2484365527 | IRF6 | c.1003A= (p.Asn335=) c.*430A= (n.*430A=) c.*513A= (n.*513A=) c.718A= (p.Asn240=) | |
| 1 | g.209790553G>A | CA423143249 | IRF6 | c.1002C>T (p.Pro334=) c.*429C>T (n.*429C>T) c.*512C>T (n.*512C>T) c.717C>T (p.Pro239=) | |
| 1 | g.209790553G>C | CA423143248 | IRF6 | c.1002C>G (p.Pro334=) c.*429C>G (n.*429C>G) c.*512C>G (n.*512C>G) c.717C>G (p.Pro239=) | |
| 1 | g.209790553G>T | CA423143247 | IRF6 | c.1002C>A (p.Pro334=) c.*429C>A (n.*429C>A) c.*512C>A (n.*512C>A) c.717C>A (p.Pro239=) | |
| 1 | g.209790556_209790572dup | CA2586968042 | IRF6 | c.986_1002dup (p.Asn335HisfsTer8) c.*413_*429dup (n.*413_*429dup) c.*496_*512dup (n.*496_*512dup) c.701_717dup (p.Asn240HisfsTer8) | |
| 1 | g.209790554G>A | CA344575336 | IRF6 | c.1001C>T (p.Pro334Leu) c.*428C>T (n.*428C>T) c.*511C>T (n.*511C>T) c.716C>T (p.Pro239Leu) | |
| 1 | g.209790554G>C | CA344575338 | IRF6 | c.1001C>G (p.Pro334Arg) c.*428C>G (n.*428C>G) c.*511C>G (n.*511C>G) c.716C>G (p.Pro239Arg) | |
| 1 | g.209790554G>T | CA344575341 | IRF6 | c.1001C>A (p.Pro334His) c.*428C>A (n.*428C>A) c.*511C>A (n.*511C>A) c.716C>A (p.Pro239His) | |
| 1 | g.209790555G>A | CA344575344 | IRF6 | c.1000C>T (p.Pro334Ser) c.*427C>T (n.*427C>T) c.*510C>T (n.*510C>T) c.715C>T (p.Pro239Ser) | |
| 1 | g.209790555G>C | CA344575345 | IRF6 | c.1000C>G (p.Pro334Ala) c.*427C>G (n.*427C>G) c.*510C>G (n.*510C>G) c.715C>G (p.Pro239Ala) | |
| 1 | g.209790555G>T | CA344575347 | IRF6 | c.1000C>A (p.Pro334Thr) c.*427C>A (n.*427C>A) c.*510C>A (n.*510C>A) c.715C>A (p.Pro239Thr) | |
| 1 | g.209790556A= | CA2484365528 | IRF6 | c.999T= (p.Ala333=) c.*426T= (n.*426T=) c.*509T= (n.*509T=) c.714T= (p.Ala238=) | |
| 1 | g.209790556A>C | CA423143254 | IRF6 | c.999T>G (p.Ala333=) c.*426T>G (n.*426T>G) c.*509T>G (n.*509T>G) c.714T>G (p.Ala238=) | |
| 1 | g.209790556A>G | CA423143256 | IRF6 | c.999T>C (p.Ala333=) c.*426T>C (n.*426T>C) c.*509T>C (n.*509T>C) c.714T>C (p.Ala238=) | dbSNP |
| 1 | g.209790556A>T | CA423143255 | IRF6 | c.999T>A (p.Ala333=) c.*426T>A (n.*426T>A) c.*509T>A (n.*509T>A) c.714T>A (p.Ala238=) | |
| 1 | g.209790557G>A | CA1377224 | IRF6 | c.998C>T (p.Ala333Val) c.*425C>T (n.*425C>T) c.*508C>T (n.*508C>T) c.713C>T (p.Ala238Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209790557G>C | CA344575351 | IRF6 | c.998C>G (p.Ala333Gly) c.*425C>G (n.*425C>G) c.*508C>G (n.*508C>G) c.713C>G (p.Ala238Gly) | |
| 1 | g.209790557G= | CA2484365529 | IRF6 | c.998C= (p.Ala333=) c.*425C= (n.*425C=) c.*508C= (n.*508C=) c.713C= (p.Ala238=) | |
| 1 | g.209790557G>T | CA344575354 | IRF6 | c.998C>A (p.Ala333Asp) c.*425C>A (n.*425C>A) c.*508C>A (n.*508C>A) c.713C>A (p.Ala238Asp) | |
| 1 | g.209790558C>A | CA344575357 | IRF6 | c.997G>T (p.Ala333Ser) c.*424G>T (n.*424G>T) c.*507G>T (n.*507G>T) c.712G>T (p.Ala238Ser) | |
| 1 | g.209790558C= | CA2484365530 | IRF6 | c.997G= (p.Ala333=) c.*424G= (n.*424G=) c.*507G= (n.*507G=) c.712G= (p.Ala238=) | |
| 1 | g.209790558C>G | CA344575359 | IRF6 | c.997G>C (p.Ala333Pro) c.*424G>C (n.*424G>C) c.*507G>C (n.*507G>C) c.712G>C (p.Ala238Pro) | |
| 1 | g.209790558C>T | CA1377225 | IRF6 | c.997G>A (p.Ala333Thr) c.*424G>A (n.*424G>A) c.*507G>A (n.*507G>A) c.712G>A (p.Ala238Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209790559A= | CA2484365531 | IRF6 | c.996T= (p.Val332=) c.*423T= (n.*423T=) c.*506T= (n.*506T=) c.711T= (p.Val237=) | |
| 1 | g.209790559A>C | CA423143259 | IRF6 | c.996T>G (p.Val332=) c.*423T>G (n.*423T>G) c.*506T>G (n.*506T>G) c.711T>G (p.Val237=) | |
| 1 | g.209790559A>G | CA423143260 | IRF6 | c.996T>C (p.Val332=) c.*423T>C (n.*423T>C) c.*506T>C (n.*506T>C) c.711T>C (p.Val237=) | dbSNP COSMIC |
| 1 | g.209790559A>T | CA423143261 | IRF6 | c.996T>A (p.Val332=) c.*423T>A (n.*423T>A) c.*506T>A (n.*506T>A) c.711T>A (p.Val237=) | |
| 1 | g.209790560A>C | CA344575365 | IRF6 | c.995T>G (p.Val332Gly) c.*422T>G (n.*422T>G) c.*505T>G (n.*505T>G) c.710T>G (p.Val237Gly) | |
| 1 | g.209790560A>G | CA344575368 | IRF6 | c.995T>C (p.Val332Ala) c.*422T>C (n.*422T>C) c.*505T>C (n.*505T>C) c.710T>C (p.Val237Ala) | |
| 1 | g.209790560A>T | CA344575366 | IRF6 | c.995T>A (p.Val332Asp) c.*422T>A (n.*422T>A) c.*505T>A (n.*505T>A) c.710T>A (p.Val237Asp) | |
| 1 | g.209790561C>A | CA344575371 | IRF6 | c.994G>T (p.Val332Phe) c.*421G>T (n.*421G>T) c.*504G>T (n.*504G>T) c.709G>T (p.Val237Phe) | |
| 1 | g.209790561C= | CA1141693382 | IRF6 | c.994G= (p.Val332=) c.*421G= (n.*421G=) c.*504G= (n.*504G=) c.709G= (p.Val237=) | |
| 1 | g.209790561C>G | CA344575374 | IRF6 | c.994G>C (p.Val332Leu) c.*421G>C (n.*421G>C) c.*504G>C (n.*504G>C) c.709G>C (p.Val237Leu) | |
| 1 | g.209790561C>T | CA1377226 | IRF6 | c.994G>A (p.Val332Ile) c.*421G>A (n.*421G>A) c.*504G>A (n.*504G>A) c.709G>A (p.Val237Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209790562A>C | CA423143267 | IRF6 | c.993T>G (p.Leu331=) c.*420T>G (n.*420T>G) c.*503T>G (n.*503T>G) c.708T>G (p.Leu236=) | gnomAD v4 |
| 1 | g.209790562A>G | CA423143268 | IRF6 | c.993T>C (p.Leu331=) c.*420T>C (n.*420T>C) c.*503T>C (n.*503T>C) c.708T>C (p.Leu236=) | |
| 1 | g.209790562A>T | CA423143269 | IRF6 | c.993T>A (p.Leu331=) c.*420T>A (n.*420T>A) c.*503T>A (n.*503T>A) c.708T>A (p.Leu236=) | |
| 1 | g.209790563A= | CA2484365532 | IRF6 | c.992T= (p.Leu331=) c.*419T= (n.*419T=) c.*502T= (n.*502T=) c.707T= (p.Leu236=) | |
| 1 | g.209790563A>C | CA344575379 | IRF6 | c.992T>G (p.Leu331Arg) c.*419T>G (n.*419T>G) c.*502T>G (n.*502T>G) c.707T>G (p.Leu236Arg) | |
| 1 | g.209790563A>G | CA1377227 | IRF6 | c.992T>C (p.Leu331Pro) c.*419T>C (n.*419T>C) c.*502T>C (n.*502T>C) c.707T>C (p.Leu236Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209790563A>T | CA344575383 | IRF6 | c.992T>A (p.Leu331His) c.*419T>A (n.*419T>A) c.*502T>A (n.*502T>A) c.707T>A (p.Leu236His) | |
| 1 | g.209790564G>A | CA344575386 | IRF6 | c.991C>T (p.Leu331Phe) c.*418C>T (n.*418C>T) c.*501C>T (n.*501C>T) c.706C>T (p.Leu236Phe) | gnomAD v4 |
| 1 | g.209790564G>C | CA344575388 | IRF6 | c.991C>G (p.Leu331Val) c.*418C>G (n.*418C>G) c.*501C>G (n.*501C>G) c.706C>G (p.Leu236Val) | |
| 1 | g.209790564G>T | CA344575390 | IRF6 | c.991C>A (p.Leu331Ile) c.*418C>A (n.*418C>A) c.*501C>A (n.*501C>A) c.706C>A (p.Leu236Ile) | |
| 1 | g.209790565T>A | CA423143274 | IRF6 | c.990A>T (p.Ser330=) c.*417A>T (n.*417A>T) c.*500A>T (n.*500A>T) c.705A>T (p.Ser235=) | |
| 1 | g.209790565T>C | CA423143275 | IRF6 | c.990A>G (p.Ser330=) c.*417A>G (n.*417A>G) c.*500A>G (n.*500A>G) c.705A>G (p.Ser235=) | |
| 1 | g.209790565T>G | CA423143276 | IRF6 | c.990A>C (p.Ser330=) c.*417A>C (n.*417A>C) c.*500A>C (n.*500A>C) c.705A>C (p.Ser235=) | |
| 1 | g.209790566G>A | CA344575393 | IRF6 | c.989C>T (p.Ser330Leu) c.*416C>T (n.*416C>T) c.*499C>T (n.*499C>T) c.704C>T (p.Ser235Leu) | gnomAD v4 |
| 1 | g.209790566G>C | CA344575395 | IRF6 | c.989C>G (p.Ser330Ter) c.*416C>G (n.*416C>G) c.*499C>G (n.*499C>G) c.704C>G (p.Ser235Ter) | |
| 1 | g.209790566G= | CA2484365533 | IRF6 | c.989C= (p.Ser330=) c.*416C= (n.*416C=) c.*499C= (n.*499C=) c.704C= (p.Ser235=) | |
| 1 | g.209790566G>T | CA344575397 | IRF6 | c.989C>A (p.Ser330Ter) c.*416C>A (n.*416C>A) c.*499C>A (n.*499C>A) c.704C>A (p.Ser235Ter) | ClinVar dbSNP |
| 1 | g.209790567A>C | CA344575404 | IRF6 | c.988T>G (p.Ser330Ala) c.*415T>G (n.*415T>G) c.*498T>G (n.*498T>G) c.703T>G (p.Ser235Ala) | |
| 1 | g.209790567A>G | CA344575400 | IRF6 | c.988T>C (p.Ser330Pro) c.*415T>C (n.*415T>C) c.*498T>C (n.*498T>C) c.703T>C (p.Ser235Pro) | gnomAD v4 |
| 1 | g.209790567A>T | CA344575402 | IRF6 | c.988T>A (p.Ser330Thr) c.*415T>A (n.*415T>A) c.*498T>A (n.*498T>A) c.703T>A (p.Ser235Thr) | |
| 1 | g.209790568T>A | CA423143282 | IRF6 | c.987A>T (p.Pro329=) c.*414A>T (n.*414A>T) c.*497A>T (n.*497A>T) c.702A>T (p.Pro234=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209790568T>C | CA423143283 | IRF6 | c.987A>G (p.Pro329=) c.*414A>G (n.*414A>G) c.*497A>G (n.*497A>G) c.702A>G (p.Pro234=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.209790568T>G | CA423143284 | IRF6 | c.987A>C (p.Pro329=) c.*414A>C (n.*414A>C) c.*497A>C (n.*497A>C) c.702A>C (p.Pro234=) | |
| 1 | g.209790568T= | CA2484365534 | IRF6 | c.987A= (p.Pro329=) c.*414A= (n.*414A=) c.*497A= (n.*497A=) c.702A= (p.Pro234=) | |
| 1 | g.209790569G>A | CA344575407 | IRF6 | c.986C>T (p.Pro329Leu) c.*413C>T (n.*413C>T) c.*496C>T (n.*496C>T) c.701C>T (p.Pro234Leu) | |
| 1 | g.209790569G>C | CA344575409 | IRF6 | c.986C>G (p.Pro329Arg) c.*413C>G (n.*413C>G) c.*496C>G (n.*496C>G) c.701C>G (p.Pro234Arg) | |
| 1 | g.209790569G>T | CA344575411 | IRF6 | c.986C>A (p.Pro329Gln) c.*413C>A (n.*413C>A) c.*496C>A (n.*496C>A) c.701C>A (p.Pro234Gln) | |
| 1 | g.209790572del | CA2539570498 | IRF6 | c.986del (p.Pro329HisfsTer8) c.*413del (n.*413del) c.*496del (n.*496del) c.701del (p.Pro234HisfsTer8) | |
| 1 | g.209790570G>A | CA344575413 | IRF6 | c.985C>T (p.Pro329Ser) c.*412C>T (n.*412C>T) c.*495C>T (n.*495C>T) c.700C>T (p.Pro234Ser) | gnomAD v4 |
| 1 | g.209790570G>C | CA344575416 | IRF6 | c.985C>G (p.Pro329Ala) c.*412C>G (n.*412C>G) c.*495C>G (n.*495C>G) c.700C>G (p.Pro234Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209790570G= | CA2484365535 | IRF6 | c.985C= (p.Pro329=) c.*412C= (n.*412C=) c.*495C= (n.*495C=) c.700C= (p.Pro234=) | |
| 1 | g.209790570G>T | CA344575419 | IRF6 | c.985C>A (p.Pro329Thr) c.*412C>A (n.*412C>A) c.*495C>A (n.*495C>A) c.700C>A (p.Pro234Thr) | |
| 1 | g.209790571G>A | CA423143291 | IRF6 | c.984C>T (p.Ala328=) c.*411C>T (n.*411C>T) c.*494C>T (n.*494C>T) c.699C>T (p.Ala233=) | |
| 1 | g.209790571G>C | CA423143290 | IRF6 | c.984C>G (p.Ala328=) c.*411C>G (n.*411C>G) c.*494C>G (n.*494C>G) c.699C>G (p.Ala233=) | |
| 1 | g.209790571G>T | CA423143289 | IRF6 | c.984C>A (p.Ala328=) c.*411C>A (n.*411C>A) c.*494C>A (n.*494C>A) c.699C>A (p.Ala233=) | |
| 1 | g.209790572G>A | CA344575422 | IRF6 | c.983C>T (p.Ala328Val) c.*410C>T (n.*410C>T) c.*493C>T (n.*493C>T) c.698C>T (p.Ala233Val) | |
| 1 | g.209790572G>C | CA344575424 | IRF6 | c.983C>G (p.Ala328Gly) c.*410C>G (n.*410C>G) c.*493C>G (n.*493C>G) c.698C>G (p.Ala233Gly) | gnomAD v4 |
| 1 | g.209790572G>T | CA344575426 | IRF6 | c.983C>A (p.Ala328Asp) c.*410C>A (n.*410C>A) c.*493C>A (n.*493C>A) c.698C>A (p.Ala233Asp) | |
| 1 | g.209790573C>A | CA344575430 | IRF6 | c.982G>T (p.Ala328Ser) c.*409G>T (n.*409G>T) c.*492G>T (n.*492G>T) c.697G>T (p.Ala233Ser) | |
| 1 | g.209790573C= | CA2484365536 | IRF6 | c.982G= (p.Ala328=) c.*409G= (n.*409G=) c.*492G= (n.*492G=) c.697G= (p.Ala233=) | |
| 1 | g.209790573C>G | CA344575432 | IRF6 | c.982G>C (p.Ala328Pro) c.*409G>C (n.*409G>C) c.*492G>C (n.*492G>C) c.697G>C (p.Ala233Pro) | |
| 1 | g.209790573C>T | CA344575434 | IRF6 | c.982G>A (p.Ala328Thr) c.*409G>A (n.*409G>A) c.*492G>A (n.*492G>A) c.697G>A (p.Ala233Thr) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.209790574A>C | CA344575438 | IRF6 | c.981T>G (p.Cys327Trp) c.*408T>G (n.*408T>G) c.*491T>G (n.*491T>G) c.696T>G (p.Cys232Trp) | |
| 1 | g.209790574A>G | CA423143295 | IRF6 | c.981T>C (p.Cys327=) c.*408T>C (n.*408T>C) c.*491T>C (n.*491T>C) c.696T>C (p.Cys232=) | |
| 1 | g.209790574A>T | CA344575439 | IRF6 | c.981T>A (p.Cys327Ter) c.*408T>A (n.*408T>A) c.*491T>A (n.*491T>A) c.696T>A (p.Cys232Ter) | |
| 1 | g.209790575C>A | CA344575442 | IRF6 | c.980G>T (p.Cys327Phe) c.*407G>T (n.*407G>T) c.*490G>T (n.*490G>T) c.695G>T (p.Cys232Phe) | |
| 1 | g.209790575C>G | CA344575444 | IRF6 | c.980G>C (p.Cys327Ser) c.*407G>C (n.*407G>C) c.*490G>C (n.*490G>C) c.695G>C (p.Cys232Ser) | gnomAD v4 |
| 1 | g.209790575C>T | CA344575446 | IRF6 | c.980G>A (p.Cys327Tyr) c.*407G>A (n.*407G>A) c.*490G>A (n.*490G>A) c.695G>A (p.Cys232Tyr) | gnomAD v4 |
| 1 | g.209790576A>C | CA344575448 | IRF6 | c.979T>G (p.Cys327Gly) c.*406T>G (n.*406T>G) c.*489T>G (n.*489T>G) c.694T>G (p.Cys232Gly) | |
| 1 | g.209790576A>G | CA344575450 | IRF6 | c.979T>C (p.Cys327Arg) c.*406T>C (n.*406T>C) c.*489T>C (n.*489T>C) c.694T>C (p.Cys232Arg) | gnomAD v4 |
| 1 | g.209790576A>T | CA344575452 | IRF6 | c.979T>A (p.Cys327Ser) c.*406T>A (n.*406T>A) c.*489T>A (n.*489T>A) c.694T>A (p.Cys232Ser) | |
| 1 | g.209790577T>A | CA423143298 | IRF6 | c.978A>T (p.Pro326=) c.*405A>T (n.*405A>T) c.*488A>T (n.*488A>T) c.693A>T (p.Pro231=) | |
| 1 | g.209790577T>C | CA423143300 | IRF6 | c.978A>G (p.Pro326=) c.*405A>G (n.*405A>G) c.*488A>G (n.*488A>G) c.693A>G (p.Pro231=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209790577T>G | CA423143303 | IRF6 | c.978A>C (p.Pro326=) c.*405A>C (n.*405A>C) c.*488A>C (n.*488A>C) c.693A>C (p.Pro231=) | |
| 1 | g.209790577T= | CA2484365537 | IRF6 | c.978A= (p.Pro326=) c.*405A= (n.*405A=) c.*488A= (n.*488A=) c.693A= (p.Pro231=) | |
| 1 | g.209790578G>A | CA344575457 | IRF6 | c.977C>T (p.Pro326Leu) c.*404C>T (n.*404C>T) c.*487C>T (n.*487C>T) c.692C>T (p.Pro231Leu) | |
| 1 | g.209790578G>C | CA344575456 | IRF6 | c.977C>G (p.Pro326Arg) c.*404C>G (n.*404C>G) c.*487C>G (n.*487C>G) c.692C>G (p.Pro231Arg) | |
| 1 | g.209790578G>T | CA344575454 | IRF6 | c.977C>A (p.Pro326Gln) c.*404C>A (n.*404C>A) c.*487C>A (n.*487C>A) c.692C>A (p.Pro231Gln) | |
| 1 | g.209790579G>A | CA344575460 | IRF6 | c.976C>T (p.Pro326Ser) c.*403C>T (n.*403C>T) c.*486C>T (n.*486C>T) c.691C>T (p.Pro231Ser) | gnomAD v4 |
| 1 | g.209790579G>C | CA344575464 | IRF6 | c.976C>G (p.Pro326Ala) c.*403C>G (n.*403C>G) c.*486C>G (n.*486C>G) c.691C>G (p.Pro231Ala) | |
| 1 | g.209790579G>T | CA344575467 | IRF6 | c.976C>A (p.Pro326Thr) c.*403C>A (n.*403C>A) c.*486C>A (n.*486C>A) c.691C>A (p.Pro231Thr) | |
| 1 | g.209790580C>A | CA423143310 | IRF6 | c.975G>T (p.Gly325=) c.*402G>T (n.*402G>T) c.*485G>T (n.*485G>T) c.690G>T (p.Gly230=) | |
| 1 | g.209790580C= | CA2484365538 | IRF6 | c.975G= (p.Gly325=) c.*402G= (n.*402G=) c.*485G= (n.*485G=) c.690G= (p.Gly230=) | |
| 1 | g.209790580C>G | CA423143313 | IRF6 | c.975G>C (p.Gly325=) c.*402G>C (n.*402G>C) c.*485G>C (n.*485G>C) c.690G>C (p.Gly230=) | |
| 1 | g.209790580C>T | CA36753025 | IRF6 | c.975G>A (p.Gly325=) c.*402G>A (n.*402G>A) c.*485G>A (n.*485G>A) c.690G>A (p.Gly230=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209790581C>A | CA344575470 | IRF6 | c.974G>T (p.Gly325Val) c.*401G>T (n.*401G>T) c.*484G>T (n.*484G>T) c.689G>T (p.Gly230Val) | |
| 1 | g.209790581C>G | CA344575472 | IRF6 | c.974G>C (p.Gly325Ala) c.*401G>C (n.*401G>C) c.*484G>C (n.*484G>C) c.689G>C (p.Gly230Ala) | |
| 1 | g.209790581C>T | CA344575475 | IRF6 | c.974G>A (p.Gly325Glu) c.*401G>A (n.*401G>A) c.*484G>A (n.*484G>A) c.689G>A (p.Gly230Glu) | |
| 1 | g.209790582C>A | CA344575478 | IRF6 | c.973G>T (p.Gly325Trp) c.*400G>T (n.*400G>T) c.*483G>T (n.*483G>T) c.688G>T (p.Gly230Trp) | |
| 1 | g.209790582C>G | CA344575482 | IRF6 | c.973G>C (p.Gly325Arg) c.*400G>C (n.*400G>C) c.*483G>C (n.*483G>C) c.688G>C (p.Gly230Arg) | |
| 1 | g.209790582C>T | CA344575480 | IRF6 | c.973G>A (p.Gly325Arg) c.*400G>A (n.*400G>A) c.*483G>A (n.*483G>A) c.688G>A (p.Gly230Arg) | |
| 1 | g.209790583A>C | CA423143322 | IRF6 | c.972T>G (p.Ser324=) c.*399T>G (n.*399T>G) c.*482T>G (n.*482T>G) c.687T>G (p.Ser229=) | |
| 1 | g.209790583A>G | CA423143324 | IRF6 | c.972T>C (p.Ser324=) c.*399T>C (n.*399T>C) c.*482T>C (n.*482T>C) c.687T>C (p.Ser229=) | |
| 1 | g.209790583A>T | CA423143323 | IRF6 | c.972T>A (p.Ser324=) c.*399T>A (n.*399T>A) c.*482T>A (n.*482T>A) c.687T>A (p.Ser229=) | |
| 1 | g.209790584G>A | CA36753027 | IRF6 | c.971C>T (p.Ser324Phe) c.*398C>T (n.*398C>T) c.*481C>T (n.*481C>T) c.686C>T (p.Ser229Phe) | dbSNP |
| 1 | g.209790584G>C | CA344575487 | IRF6 | c.971C>G (p.Ser324Cys) c.*398C>G (n.*398C>G) c.*481C>G (n.*481C>G) c.686C>G (p.Ser229Cys) | |
| 1 | g.209790584G= | CA2484365539 | IRF6 | c.971C= (p.Ser324=) c.*398C= (n.*398C=) c.*481C= (n.*481C=) c.686C= (p.Ser229=) | |
| 1 | g.209790584G>T | CA344575489 | IRF6 | c.971C>A (p.Ser324Tyr) c.*398C>A (n.*398C>A) c.*481C>A (n.*481C>A) c.686C>A (p.Ser229Tyr) | |
| 1 | g.209790585A>C | CA344575492 | IRF6 | c.970T>G (p.Ser324Ala) c.*397T>G (n.*397T>G) c.*480T>G (n.*480T>G) c.685T>G (p.Ser229Ala) | |
| 1 | g.209790585A>G | CA344575494 | IRF6 | c.970T>C (p.Ser324Pro) c.*397T>C (n.*397T>C) c.*480T>C (n.*480T>C) c.685T>C (p.Ser229Pro) | |
| 1 | g.209790585A>T | CA344575497 | IRF6 | c.970T>A (p.Ser324Thr) c.*397T>A (n.*397T>A) c.*480T>A (n.*480T>A) c.685T>A (p.Ser229Thr) | |
| 1 | g.209790586C>A | CA344575500 | IRF6 | c.969G>T (p.Trp323Cys) c.*396G>T (n.*396G>T) c.*479G>T (n.*479G>T) c.684G>T (p.Trp228Cys) | |
| 1 | g.209790586C= | CA2484365540 | IRF6 | c.969G= (p.Trp323=) c.*396G= (n.*396G=) c.*479G= (n.*479G=) c.684G= (p.Trp228=) | |
| 1 | g.209790586C>G | CA344575502 | IRF6 | c.969G>C (p.Trp323Cys) c.*396G>C (n.*396G>C) c.*479G>C (n.*479G>C) c.684G>C (p.Trp228Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209790586C>T | CA344575504 | IRF6 | c.969G>A (p.Trp323Ter) c.*396G>A (n.*396G>A) c.*479G>A (n.*479G>A) c.684G>A (p.Trp228Ter) | |
| 1 | g.209790587C>A | CA344575507 | IRF6 | c.968G>T (p.Trp323Leu) c.*395G>T (n.*395G>T) c.*478G>T (n.*478G>T) c.683G>T (p.Trp228Leu) | |
| 1 | g.209790587C>G | CA344575509 | IRF6 | c.968G>C (p.Trp323Ser) c.*395G>C (n.*395G>C) c.*478G>C (n.*478G>C) c.683G>C (p.Trp228Ser) | |
| 1 | g.209790587C>T | CA344575512 | IRF6 | c.968G>A (p.Trp323Ter) c.*395G>A (n.*395G>A) c.*478G>A (n.*478G>A) c.683G>A (p.Trp228Ter) | gnomAD v4 |
| 1 | g.209790588A>C | CA344575516 | IRF6 | c.967T>G (p.Trp323Gly) c.*394T>G (n.*394T>G) c.*477T>G (n.*477T>G) c.682T>G (p.Trp228Gly) | |
| 1 | g.209790588A>G | CA344575520 | IRF6 | c.967T>C (p.Trp323Arg) c.*394T>C (n.*394T>C) c.*477T>C (n.*477T>C) c.682T>C (p.Trp228Arg) | |
| 1 | g.209790588A>T | CA344575518 | IRF6 | c.967T>A (p.Trp323Arg) c.*394T>A (n.*394T>A) c.*477T>A (n.*477T>A) c.682T>A (p.Trp228Arg) | |
| 1 | g.209790589G>A | CA423143337 | IRF6 | c.966C>T (p.Tyr322=) c.*393C>T (n.*393C>T) c.*476C>T (n.*476C>T) c.681C>T (p.Tyr227=) | |
| 1 | g.209790589G>C | CA344575523 | IRF6 | c.966C>G (p.Tyr322Ter) c.*393C>G (n.*393C>G) c.*476C>G (n.*476C>G) c.681C>G (p.Tyr227Ter) | |
| 1 | g.209790589G>T | CA344575525 | IRF6 | c.966C>A (p.Tyr322Ter) c.*393C>A (n.*393C>A) c.*476C>A (n.*476C>A) c.681C>A (p.Tyr227Ter) | |
| 1 | g.209790590T>A | CA344575528 | IRF6 | c.965A>T (p.Tyr322Phe) c.*392A>T (n.*392A>T) c.*475A>T (n.*475A>T) c.680A>T (p.Tyr227Phe) | |
| 1 | g.209790590T>C | CA344575530 | IRF6 | c.965A>G (p.Tyr322Cys) c.*392A>G (n.*392A>G) c.*475A>G (n.*475A>G) c.680A>G (p.Tyr227Cys) | ClinVar dbSNP |
| 1 | g.209790590T>G | CA344575532 | IRF6 | c.965A>C (p.Tyr322Ser) c.*392A>C (n.*392A>C) c.*475A>C (n.*475A>C) c.680A>C (p.Tyr227Ser) | |
| 1 | g.209790590_209790594delinsG | CA2586968043 | IRF6 | c.961_965delinsC (p.Val321ProfsTer15) c.*388_*392delinsC (n.*388_*392delinsC) c.*471_*475delinsC (n.*471_*475delinsC) c.676_680delinsC (p.Val226ProfsTer15) | |
| 1 | g.209790591A= | CA2484365541 | IRF6 | c.964T= (p.Tyr322=) c.*391T= (n.*391T=) c.*474T= (n.*474T=) c.679T= (p.Tyr227=) | |
| 1 | g.209790591A>C | CA344575534 | IRF6 | c.964T>G (p.Tyr322Asp) c.*391T>G (n.*391T>G) c.*474T>G (n.*474T>G) c.679T>G (p.Tyr227Asp) | |
| 1 | g.209790591A>G | CA344575536 | IRF6 | c.964T>C (p.Tyr322His) c.*391T>C (n.*391T>C) c.*474T>C (n.*474T>C) c.679T>C (p.Tyr227His) | |
| 1 | g.209790591A>T | CA344575537 | IRF6 | c.964T>A (p.Tyr322Asn) c.*391T>A (n.*391T>A) c.*474T>A (n.*474T>A) c.679T>A (p.Tyr227Asn) | ClinVar dbSNP |
| 1 | g.209790592C>A | CA423143346 | IRF6 | c.963G>T (p.Val321=) c.*390G>T (n.*390G>T) c.*473G>T (n.*473G>T) c.678G>T (p.Val226=) | |
| 1 | g.209790592C>G | CA423143347 | IRF6 | c.963G>C (p.Val321=) c.*390G>C (n.*390G>C) c.*473G>C (n.*473G>C) c.678G>C (p.Val226=) | |
| 1 | g.209790592C>T | CA423143348 | IRF6 | c.963G>A (p.Val321=) c.*390G>A (n.*390G>A) c.*473G>A (n.*473G>A) c.678G>A (p.Val226=) | gnomAD v4 |
| 1 | g.209790593A= | CA2484365542 | IRF6 | c.962T= (p.Val321=) c.*389T= (n.*389T=) c.*472T= (n.*472T=) c.677T= (p.Val226=) | |
| 1 | g.209790593A>C | CA344575540 | IRF6 | c.962T>G (p.Val321Gly) c.*389T>G (n.*389T>G) c.*472T>G (n.*472T>G) c.677T>G (p.Val226Gly) | |
| 1 | g.209790593A>G | CA1377228 | IRF6 | c.962T>C (p.Val321Ala) c.*389T>C (n.*389T>C) c.*472T>C (n.*472T>C) c.677T>C (p.Val226Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209790593A>T | CA344575545 | IRF6 | c.962T>A (p.Val321Glu) c.*389T>A (n.*389T>A) c.*472T>A (n.*472T>A) c.677T>A (p.Val226Glu) | |
| 1 | g.209790594C>A | CA344575552 | IRF6 | c.961G>T (p.Val321Leu) c.*388G>T (n.*388G>T) c.*471G>T (n.*471G>T) c.676G>T (p.Val226Leu) | |
| 1 | g.209790594C>G | CA344575550 | IRF6 | c.961G>C (p.Val321Leu) c.*388G>C (n.*388G>C) c.*471G>C (n.*471G>C) c.676G>C (p.Val226Leu) | |
| 1 | g.209790594C>T | CA344575548 | IRF6 | c.961G>A (p.Val321Met) c.*388G>A (n.*388G>A) c.*471G>A (n.*471G>A) c.676G>A (p.Val226Met) | ClinVar dbSNP gnomAD v4 |
| 1 | g.209790595C>A | CA344575555 | IRF6 | c.960G>T (p.Lys320Asn) c.*387G>T (n.*387G>T) c.*470G>T (n.*470G>T) c.675G>T (p.Lys225Asn) | |
| 1 | g.209790595C= | CA2484365543 | IRF6 | c.960G= (p.Lys320=) c.*387G= (n.*387G=) c.*470G= (n.*470G=) c.675G= (p.Lys225=) | |
| 1 | g.209790595C>G | CA344575557 | IRF6 | c.960G>C (p.Lys320Asn) c.*387G>C (n.*387G>C) c.*470G>C (n.*470G>C) c.675G>C (p.Lys225Asn) | |
| 1 | g.209790595C>T | CA36753032 | IRF6 | c.960G>A (p.Lys320=) c.*387G>A (n.*387G>A) c.*470G>A (n.*470G>A) c.675G>A (p.Lys225=) | dbSNP |
| 1 | g.209790596T>A | CA344575560 | IRF6 | c.959A>T (p.Lys320Met) c.*386A>T (n.*386A>T) c.*469A>T (n.*469A>T) c.674A>T (p.Lys225Met) | |
| 1 | g.209790596T>C | CA344575562 | IRF6 | c.959A>G (p.Lys320Arg) c.*386A>G (n.*386A>G) c.*469A>G (n.*469A>G) c.674A>G (p.Lys225Arg) | |
| 1 | g.209790596T>G | CA344575563 | IRF6 | c.959A>C (p.Lys320Thr) c.*386A>C (n.*386A>C) c.*469A>C (n.*469A>C) c.674A>C (p.Lys225Thr) | |
| 1 | g.209790597T>A | CA344575564 | IRF6 | c.958A>T (p.Lys320Ter) c.*385A>T (n.*385A>T) c.*468A>T (n.*468A>T) c.673A>T (p.Lys225Ter) | COSMIC |
| 1 | g.209790597T>C | CA344575565 | IRF6 | c.958A>G (p.Lys320Glu) c.*385A>G (n.*385A>G) c.*468A>G (n.*468A>G) c.673A>G (p.Lys225Glu) | |
| 1 | g.209790597T>G | CA344575566 | IRF6 | c.958A>C (p.Lys320Gln) c.*385A>C (n.*385A>C) c.*468A>C (n.*468A>C) c.673A>C (p.Lys225Gln) | |
| 1 | g.209790598G>A | CA423143358 | IRF6 | c.957C>T (p.Cys319=) c.*384C>T (n.*384C>T) c.*467C>T (n.*467C>T) c.672C>T (p.Cys224=) | |
| 1 | g.209790598G>C | CA344575568 | IRF6 | c.957C>G (p.Cys319Trp) c.*384C>G (n.*384C>G) c.*467C>G (n.*467C>G) c.672C>G (p.Cys224Trp) | |
| 1 | g.209790598G>T | CA344575570 | IRF6 | c.957C>A (p.Cys319Ter) c.*384C>A (n.*384C>A) c.*467C>A (n.*467C>A) c.672C>A (p.Cys224Ter) | |
| 1 | g.209790599C>A | CA344575576 | IRF6 | c.956G>T (p.Cys319Phe) c.*383G>T (n.*383G>T) c.*466G>T (n.*466G>T) c.671G>T (p.Cys224Phe) | |
| 1 | g.209790599C>G | CA344575577 | IRF6 | c.956G>C (p.Cys319Ser) c.*383G>C (n.*383G>C) c.*466G>C (n.*466G>C) c.671G>C (p.Cys224Ser) | |
| 1 | g.209790599C>T | CA344575578 | IRF6 | c.956G>A (p.Cys319Tyr) c.*383G>A (n.*383G>A) c.*466G>A (n.*466G>A) c.671G>A (p.Cys224Tyr) | |
| 1 | g.209790600A>C | CA344575581 | IRF6 | c.955T>G (p.Cys319Gly) c.*382T>G (n.*382T>G) c.*465T>G (n.*465T>G) c.670T>G (p.Cys224Gly) | |
| 1 | g.209790600A>G | CA344575580 | IRF6 | c.955T>C (p.Cys319Arg) c.*382T>C (n.*382T>C) c.*465T>C (n.*465T>C) c.670T>C (p.Cys224Arg) | |
| 1 | g.209790600A>T | CA344575579 | IRF6 | c.955T>A (p.Cys319Ser) c.*382T>A (n.*382T>A) c.*465T>A (n.*465T>A) c.670T>A (p.Cys224Ser) | |
| 1 | g.209790601C>A | CA344575585 | IRF6 | c.954G>T (p.Gln318His) c.*381G>T (n.*381G>T) c.*464G>T (n.*464G>T) c.669G>T (p.Gln223His) | |
| 1 | g.209790601C= | CA1143577800 | IRF6 | c.954G= (p.Gln318=) c.*381G= (n.*381G=) c.*464G= (n.*464G=) c.669G= (p.Gln223=) | |
| 1 | g.209790601C>G | CA344575583 | IRF6 | c.954G>C (p.Gln318His) c.*381G>C (n.*381G>C) c.*464G>C (n.*464G>C) c.669G>C (p.Gln223His) | |
| 1 | g.209790601C>T | CA36753035 | IRF6 | c.954G>A (p.Gln318=) c.*381G>A (n.*381G>A) c.*464G>A (n.*464G>A) c.669G>A (p.Gln223=) | dbSNP |
| 1 | g.209790602T>A | CA344575587 | IRF6 | c.953A>T (p.Gln318Leu) c.*380A>T (n.*380A>T) c.*463A>T (n.*463A>T) c.668A>T (p.Gln223Leu) | |
| 1 | g.209790602T>C | CA344575589 | IRF6 | c.953A>G (p.Gln318Arg) c.*380A>G (n.*380A>G) c.*463A>G (n.*463A>G) c.668A>G (p.Gln223Arg) | |
| 1 | g.209790602T>G | CA344575588 | IRF6 | c.953A>C (p.Gln318Pro) c.*380A>C (n.*380A>C) c.*463A>C (n.*463A>C) c.668A>C (p.Gln223Pro) | |
| 1 | g.209790603G>A | CA344575591 | IRF6 | c.952C>T (p.Gln318Ter) c.*379C>T (n.*379C>T) c.*462C>T (n.*462C>T) c.667C>T (p.Gln223Ter) | ClinVar |
| 1 | g.209790603G>C | CA344575596 | IRF6 | c.952C>G (p.Gln318Glu) c.*379C>G (n.*379C>G) c.*462C>G (n.*462C>G) c.667C>G (p.Gln223Glu) | |
| 1 | g.209790603G>T | CA344575594 | IRF6 | c.952C>A (p.Gln318Lys) c.*379C>A (n.*379C>A) c.*462C>A (n.*462C>A) c.667C>A (p.Gln223Lys) | |
| 1 | g.209790604G>A | CA423143368 | IRF6 | c.951C>T (p.Cys317=) c.*378C>T (n.*378C>T) c.*461C>T (n.*461C>T) c.666C>T (p.Cys222=) | COSMIC |
| 1 | g.209790604G>C | CA344575598 | IRF6 | c.951C>G (p.Cys317Trp) c.*378C>G (n.*378C>G) c.*461C>G (n.*461C>G) c.666C>G (p.Cys222Trp) | |
| 1 | g.209790604G>T | CA344575599 | IRF6 | c.951C>A (p.Cys317Ter) c.*378C>A (n.*378C>A) c.*461C>A (n.*461C>A) c.666C>A (p.Cys222Ter) | |
| 1 | g.209790605C>A | CA344575600 | IRF6 | c.950G>T (p.Cys317Phe) c.*377G>T (n.*377G>T) c.*460G>T (n.*460G>T) c.665G>T (p.Cys222Phe) | |
| 1 | g.209790605C= | CA2484365544 | IRF6 | c.950G= (p.Cys317=) c.*377G= (n.*377G=) c.*460G= (n.*460G=) c.665G= (p.Cys222=) | |
| 1 | g.209790605C>G | CA344575604 | IRF6 | c.950G>C (p.Cys317Ser) c.*377G>C (n.*377G>C) c.*460G>C (n.*460G>C) c.665G>C (p.Cys222Ser) | |
| 1 | g.209790605C>T | CA344575602 | IRF6 | c.950G>A (p.Cys317Tyr) c.*377G>A (n.*377G>A) c.*460G>A (n.*460G>A) c.665G>A (p.Cys222Tyr) | ClinVar dbSNP |
| 1 | g.209790606A>C | CA344575605 | IRF6 | c.949T>G (p.Cys317Gly) c.*376T>G (n.*376T>G) c.*459T>G (n.*459T>G) c.664T>G (p.Cys222Gly) | |
| 1 | g.209790606A>G | CA344575610 | IRF6 | c.949T>C (p.Cys317Arg) c.*376T>C (n.*376T>C) c.*459T>C (n.*459T>C) c.664T>C (p.Cys222Arg) | |
| 1 | g.209790606A>T | CA344575607 | IRF6 | c.949T>A (p.Cys317Ser) c.*376T>A (n.*376T>A) c.*459T>A (n.*459T>A) c.664T>A (p.Cys222Ser) | |
| 1 | g.209790607C>A | CA423143371 | IRF6 | c.948G>T (p.Leu316=) c.*375G>T (n.*375G>T) c.*458G>T (n.*458G>T) c.663G>T (p.Leu221=) | |
| 1 | g.209790607C>G | CA423143372 | IRF6 | c.948G>C (p.Leu316=) c.*375G>C (n.*375G>C) c.*458G>C (n.*458G>C) c.663G>C (p.Leu221=) | |
| 1 | g.209790607C>T | CA423143373 | IRF6 | c.948G>A (p.Leu316=) c.*375G>A (n.*375G>A) c.*458G>A (n.*458G>A) c.663G>A (p.Leu221=) | |
| 1 | g.209790608A>C | CA344575613 | IRF6 | c.947T>G (p.Leu316Arg) c.*374T>G (n.*374T>G) c.*457T>G (n.*457T>G) c.662T>G (p.Leu221Arg) | |
| 1 | g.209790608A>G | CA344575617 | IRF6 | c.947T>C (p.Leu316Pro) c.*374T>C (n.*374T>C) c.*457T>C (n.*457T>C) c.662T>C (p.Leu221Pro) | |
| 1 | g.209790608A>T | CA344575621 | IRF6 | c.947T>A (p.Leu316Gln) c.*374T>A (n.*374T>A) c.*457T>A (n.*457T>A) c.662T>A (p.Leu221Gln) | |
| 1 | g.209790608_209790609delinsAG | CA2484365545 | IRF6 | c.946_947delinsCT (p.Leu316=) c.*373_*374delinsCT (n.*373_*374delinsCT) c.*456_*457delinsCT (n.*456_*457delinsCT) c.661_662delinsCT (p.Leu221=) | |
| 1 | g.209790609del | CA529000465 | IRF6 | c.946del (p.Leu316CysfsTer21) c.*373del (n.*373del) c.*456del (n.*456del) c.661del (p.Leu221CysfsTer21) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209790609G>A | CA423143379 | IRF6 | c.946C>T (p.Leu316=) c.*373C>T (n.*373C>T) c.*456C>T (n.*456C>T) c.661C>T (p.Leu221=) | |
| 1 | g.209790609G>C | CA344575624 | IRF6 | c.946C>G (p.Leu316Val) c.*373C>G (n.*373C>G) c.*456C>G (n.*456C>G) c.661C>G (p.Leu221Val) | |
| 1 | g.209790609G>T | CA344575626 | IRF6 | c.946C>A (p.Leu316Met) c.*373C>A (n.*373C>A) c.*456C>A (n.*456C>A) c.661C>A (p.Leu221Met) | |
| 1 | g.209790610C>A | CA344575633 | IRF6 | c.945G>T (p.Arg315Ser) c.*372G>T (n.*372G>T) c.*455G>T (n.*455G>T) c.660G>T (p.Arg220Ser) | COSMIC |
| 1 | g.209790610C= | CA1144437053 | IRF6 | c.945G= (p.Arg315=) c.*372G= (n.*372G=) c.*455G= (n.*455G=) c.660G= (p.Arg220=) | |
| 1 | g.209790610C>G | CA344575634 | IRF6 | c.945G>C (p.Arg315Ser) c.*372G>C (n.*372G>C) c.*455G>C (n.*455G>C) c.660G>C (p.Arg220Ser) | |
| 1 | g.209790610C>T | CA1377229 | IRF6 | c.945G>A (p.Arg315=) c.*372G>A (n.*372G>A) c.*455G>A (n.*455G>A) c.660G>A (p.Arg220=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209790611C>A | CA344575636 | IRF6 | c.944G>T (p.Arg315Met) c.*371G>T (n.*371G>T) c.*454G>T (n.*454G>T) c.659G>T (p.Arg220Met) | |
| 1 | g.209790611C>G | CA344575642 | IRF6 | c.944G>C (p.Arg315Thr) c.*371G>C (n.*371G>C) c.*454G>C (n.*454G>C) c.659G>C (p.Arg220Thr) | |
| 1 | g.209790611C>T | CA344575645 | IRF6 | c.944G>A (p.Arg315Lys) c.*371G>A (n.*371G>A) c.*454G>A (n.*454G>A) c.659G>A (p.Arg220Lys) | |
| 1 | g.209790612T>A | CA344575650 | IRF6 | c.943A>T (p.Arg315Trp) c.*370A>T (n.*370A>T) c.*453A>T (n.*453A>T) c.658A>T (p.Arg220Trp) | |
| 1 | g.209790612T>C | CA344575646 | IRF6 | c.943A>G (p.Arg315Gly) c.*370A>G (n.*370A>G) c.*453A>G (n.*453A>G) c.658A>G (p.Arg220Gly) | |
| 1 | g.209790612T>G | CA423143389 | IRF6 | c.943A>C (p.Arg315=) c.*370A>C (n.*370A>C) c.*453A>C (n.*453A>C) c.658A>C (p.Arg220=) | |
| 1 | g.209790613G>A | CA423143391 | IRF6 | c.942C>T (p.Ile314=) c.*369C>T (n.*369C>T) c.*452C>T (n.*452C>T) c.657C>T (p.Ile219=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209790613G>C | CA344575653 | IRF6 | c.942C>G (p.Ile314Met) c.*369C>G (n.*369C>G) c.*452C>G (n.*452C>G) c.657C>G (p.Ile219Met) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209790613G= | CA2484365546 | IRF6 | c.942C= (p.Ile314=) c.*369C= (n.*369C=) c.*452C= (n.*452C=) c.657C= (p.Ile219=) | |
| 1 | g.209790613G>T | CA423143390 | IRF6 | c.942C>A (p.Ile314=) c.*369C>A (n.*369C>A) c.*452C>A (n.*452C>A) c.657C>A (p.Ile219=) | |
| 1 | g.209790614A>C | CA344575664 | IRF6 | c.941T>G (p.Ile314Ser) c.*368T>G (n.*368T>G) c.*451T>G (n.*451T>G) c.656T>G (p.Ile219Ser) | |
| 1 | g.209790614A>G | CA344575665 | IRF6 | c.941T>C (p.Ile314Thr) c.*368T>C (n.*368T>C) c.*451T>C (n.*451T>C) c.656T>C (p.Ile219Thr) | |
| 1 | g.209790614A>T | CA344575666 | IRF6 | c.941T>A (p.Ile314Asn) c.*368T>A (n.*368T>A) c.*451T>A (n.*451T>A) c.656T>A (p.Ile219Asn) | |
| 1 | g.209790615T>A | CA344575670 | IRF6 | c.940A>T (p.Ile314Phe) c.*367A>T (n.*367A>T) c.*450A>T (n.*450A>T) c.655A>T (p.Ile219Phe) | |
| 1 | g.209790615T>C | CA344575672 | IRF6 | c.940A>G (p.Ile314Val) c.*367A>G (n.*367A>G) c.*450A>G (n.*450A>G) c.655A>G (p.Ile219Val) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209790615T>G | CA344575684 | IRF6 | c.940A>C (p.Ile314Leu) c.*367A>C (n.*367A>C) c.*450A>C (n.*450A>C) c.655A>C (p.Ile219Leu) | |
| 1 | g.209790615T= | CA2484365547 | IRF6 | c.940A= (p.Ile314=) c.*367A= (n.*367A=) c.*450A= (n.*450A=) c.655A= (p.Ile219=) | |
| 1 | g.209790616G>A | CA423143395 | IRF6 | c.939C>T (p.Ala313=) c.*366C>T (n.*366C>T) c.*449C>T (n.*449C>T) c.654C>T (p.Ala218=) | |
| 1 | g.209790616G>C | CA423143396 | IRF6 | c.939C>G (p.Ala313=) c.*366C>G (n.*366C>G) c.*449C>G (n.*449C>G) c.654C>G (p.Ala218=) | |
| 1 | g.209790616G= | CA2484365548 | IRF6 | c.939C= (p.Ala313=) c.*366C= (n.*366C=) c.*449C= (n.*449C=) c.654C= (p.Ala218=) | |
| 1 | g.209790616G>T | CA1377230 | IRF6 | c.939C>A (p.Ala313=) c.*366C>A (n.*366C>A) c.*449C>A (n.*449C>A) c.654C>A (p.Ala218=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209790617G>A | CA344575695 | IRF6 | c.938C>T (p.Ala313Val) c.*365C>T (n.*365C>T) c.*448C>T (n.*448C>T) c.653C>T (p.Ala218Val) | COSMIC |
| 1 | g.209790617G>C | CA344575696 | IRF6 | c.938C>G (p.Ala313Gly) c.*365C>G (n.*365C>G) c.*448C>G (n.*448C>G) c.653C>G (p.Ala218Gly) | |
| 1 | g.209790617G>T | CA344575697 | IRF6 | c.938C>A (p.Ala313Asp) c.*365C>A (n.*365C>A) c.*448C>A (n.*448C>A) c.653C>A (p.Ala218Asp) | |
| 1 | g.209790618C>A | CA344575703 | IRF6 | c.937G>T (p.Ala313Ser) c.*364G>T (n.*364G>T) c.*447G>T (n.*447G>T) c.652G>T (p.Ala218Ser) | |
| 1 | g.209790618C>G | CA344575702 | IRF6 | c.937G>C (p.Ala313Pro) c.*364G>C (n.*364G>C) c.*447G>C (n.*447G>C) c.652G>C (p.Ala218Pro) | |
| 1 | g.209790618C>T | CA344575700 | IRF6 | c.937G>A (p.Ala313Thr) c.*364G>A (n.*364G>A) c.*447G>A (n.*447G>A) c.652G>A (p.Ala218Thr) | gnomAD v4 |
| 1 | g.209790619A>C | CA344575705 | IRF6 | c.936T>G (p.Tyr312Ter) c.*363T>G (n.*363T>G) c.*446T>G (n.*446T>G) c.651T>G (p.Tyr217Ter) | |
| 1 | g.209790619A>G | CA423143406 | IRF6 | c.936T>C (p.Tyr312=) c.*363T>C (n.*363T>C) c.*446T>C (n.*446T>C) c.651T>C (p.Tyr217=) | |
| 1 | g.209790619A>T | CA344575708 | IRF6 | c.936T>A (p.Tyr312Ter) c.*363T>A (n.*363T>A) c.*446T>A (n.*446T>A) c.651T>A (p.Tyr217Ter) | |
| 1 | g.209790620T>A | CA344575711 | IRF6 | c.935A>T (p.Tyr312Phe) c.*362A>T (n.*362A>T) c.*445A>T (n.*445A>T) c.650A>T (p.Tyr217Phe) | |
| 1 | g.209790620T>C | CA344575712 | IRF6 | c.935A>G (p.Tyr312Cys) c.*362A>G (n.*362A>G) c.*445A>G (n.*445A>G) c.650A>G (p.Tyr217Cys) | |
| 1 | g.209790620T>G | CA344575714 | IRF6 | c.935A>C (p.Tyr312Ser) c.*362A>C (n.*362A>C) c.*445A>C (n.*445A>C) c.650A>C (p.Tyr217Ser) | |
| 1 | g.209790621A= | CA2484365549 | IRF6 | c.934T= (p.Tyr312=) c.*361T= (n.*361T=) c.*444T= (n.*444T=) c.649T= (p.Tyr217=) | |
| 1 | g.209790621A>C | CA344575733 | IRF6 | c.934T>G (p.Tyr312Asp) c.*361T>G (n.*361T>G) c.*444T>G (n.*444T>G) c.649T>G (p.Tyr217Asp) | |
| 1 | g.209790621A>G | CA1377231 | IRF6 | c.934T>C (p.Tyr312His) c.*361T>C (n.*361T>C) c.*444T>C (n.*444T>C) c.649T>C (p.Tyr217His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209790621A>T | CA344575737 | IRF6 | c.934T>A (p.Tyr312Asn) c.*361T>A (n.*361T>A) c.*444T>A (n.*444T>A) c.649T>A (p.Tyr217Asn) | |
| 1 | g.209790623dup | CA2586968044 | IRF6 | c.934dup (p.Tyr312LeufsTer27) c.*361dup (n.*361dup) c.*444dup (n.*444dup) c.649dup (p.Tyr217LeufsTer27) | |
| 1 | g.209790622A>C | CA344575740 | IRF6 | c.933T>G (p.Ile311Met) c.*360T>G (n.*360T>G) c.*443T>G (n.*443T>G) c.648T>G (p.Ile216Met) | |
| 1 | g.209790622A>G | CA423143415 | IRF6 | c.933T>C (p.Ile311=) c.*360T>C (n.*360T>C) c.*443T>C (n.*443T>C) c.648T>C (p.Ile216=) | |
| 1 | g.209790622A>T | CA423143416 | IRF6 | c.933T>A (p.Ile311=) c.*360T>A (n.*360T>A) c.*443T>A (n.*443T>A) c.648T>A (p.Ile216=) | |
| 1 | g.209790623A= | CA2484365550 | IRF6 | c.932T= (p.Ile311=) c.*359T= (n.*359T=) c.*442T= (n.*442T=) c.647T= (p.Ile216=) | |
| 1 | g.209790623A>C | CA344575743 | IRF6 | c.932T>G (p.Ile311Ser) c.*359T>G (n.*359T>G) c.*442T>G (n.*442T>G) c.647T>G (p.Ile216Ser) | |
| 1 | g.209790623A>G | CA344575744 | IRF6 | c.932T>C (p.Ile311Thr) c.*359T>C (n.*359T>C) c.*442T>C (n.*442T>C) c.647T>C (p.Ile216Thr) | ClinVar dbSNP |
| 1 | g.209790623A>T | CA344575745 | IRF6 | c.932T>A (p.Ile311Asn) c.*359T>A (n.*359T>A) c.*442T>A (n.*442T>A) c.647T>A (p.Ile216Asn) | |
| 1 | g.209790624T>A | CA344575760 | IRF6 | c.931A>T (p.Ile311Phe) c.*358A>T (n.*358A>T) c.*441A>T (n.*441A>T) c.646A>T (p.Ile216Phe) | |
| 1 | g.209790624T>C | CA344575756 | IRF6 | c.931A>G (p.Ile311Val) c.*358A>G (n.*358A>G) c.*441A>G (n.*441A>G) c.646A>G (p.Ile216Val) | gnomAD v4 |
| 1 | g.209790624T>G | CA344575759 | IRF6 | c.931A>C (p.Ile311Leu) c.*358A>C (n.*358A>C) c.*441A>C (n.*441A>C) c.646A>C (p.Ile216Leu) | |
| 1 | g.209790625G>A | CA423143422 | IRF6 | c.930C>T (p.Ala310=) c.*357C>T (n.*357C>T) c.*440C>T (n.*440C>T) c.645C>T (p.Ala215=) | gnomAD v4 |
| 1 | g.209790625G>C | CA423143423 | IRF6 | c.930C>G (p.Ala310=) c.*357C>G (n.*357C>G) c.*440C>G (n.*440C>G) c.645C>G (p.Ala215=) | |
| 1 | g.209790625G>T | CA423143424 | IRF6 | c.930C>A (p.Ala310=) c.*357C>A (n.*357C>A) c.*440C>A (n.*440C>A) c.645C>A (p.Ala215=) | |
| 1 | g.209790626G>A | CA344575762 | IRF6 | c.929C>T (p.Ala310Val) c.*356C>T (n.*356C>T) c.*439C>T (n.*439C>T) c.644C>T (p.Ala215Val) | gnomAD v4 |
| 1 | g.209790626G>C | CA344575764 | IRF6 | c.929C>G (p.Ala310Gly) c.*356C>G (n.*356C>G) c.*439C>G (n.*439C>G) c.644C>G (p.Ala215Gly) | |
| 1 | g.209790626G>T | CA344575765 | IRF6 | c.929C>A (p.Ala310Asp) c.*356C>A (n.*356C>A) c.*439C>A (n.*439C>A) c.644C>A (p.Ala215Asp) | |
| 1 | g.209790627C>A | CA344575768 | IRF6 | c.928G>T (p.Ala310Ser) c.*355G>T (n.*355G>T) c.*438G>T (n.*438G>T) c.643G>T (p.Ala215Ser) | |
| 1 | g.209790627C= | CA2484365551 | IRF6 | c.928G= (p.Ala310=) c.*355G= (n.*355G=) c.*438G= (n.*438G=) c.643G= (p.Ala215=) | |
| 1 | g.209790627C>G | CA344575790 | IRF6 | c.928G>C (p.Ala310Pro) c.*355G>C (n.*355G>C) c.*438G>C (n.*438G>C) c.643G>C (p.Ala215Pro) | ClinVar |
| 1 | g.209790627C>T | CA1377232 | IRF6 | c.928G>A (p.Ala310Thr) c.*355G>A (n.*355G>A) c.*438G>A (n.*438G>A) c.643G>A (p.Ala215Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209790628A>C | CA344575800 | IRF6 | c.927T>G (p.His309Gln) c.*354T>G (n.*354T>G) c.*437T>G (n.*437T>G) c.642T>G (p.His214Gln) | |
| 1 | g.209790628A>G | CA423143430 | IRF6 | c.927T>C (p.His309=) c.*354T>C (n.*354T>C) c.*437T>C (n.*437T>C) c.642T>C (p.His214=) | |
| 1 | g.209790628A>T | CA344575813 | IRF6 | c.927T>A (p.His309Gln) c.*354T>A (n.*354T>A) c.*437T>A (n.*437T>A) c.642T>A (p.His214Gln) | |
| 1 | g.209790629T>A | CA344575814 | IRF6 | c.926A>T (p.His309Leu) c.*353A>T (n.*353A>T) c.*436A>T (n.*436A>T) c.641A>T (p.His214Leu) | |
| 1 | g.209790629T>C | CA344575817 | IRF6 | c.926A>G (p.His309Arg) c.*353A>G (n.*353A>G) c.*436A>G (n.*436A>G) c.641A>G (p.His214Arg) | |
| 1 | g.209790629T>G | CA344575824 | IRF6 | c.926A>C (p.His309Pro) c.*353A>C (n.*353A>C) c.*436A>C (n.*436A>C) c.641A>C (p.His214Pro) | |
| 1 | g.209790630G>A | CA344575839 | IRF6 | c.925C>T (p.His309Tyr) c.*352C>T (n.*352C>T) c.*435C>T (n.*435C>T) c.640C>T (p.His214Tyr) | |
| 1 | g.209790630G>C | CA344575837 | IRF6 | c.925C>G (p.His309Asp) c.*352C>G (n.*352C>G) c.*435C>G (n.*435C>G) c.640C>G (p.His214Asp) | |
| 1 | g.209790630G>T | CA344575835 | IRF6 | c.925C>A (p.His309Asn) c.*352C>A (n.*352C>A) c.*435C>A (n.*435C>A) c.640C>A (p.His214Asn) | |
| 1 | g.209790631A>C | CA423143438 | IRF6 | c.924T>G (p.Gly308=) c.*351T>G (n.*351T>G) c.*434T>G (n.*434T>G) c.639T>G (p.Gly213=) | |
| 1 | g.209790631A>G | CA423143439 | IRF6 | c.924T>C (p.Gly308=) c.*351T>C (n.*351T>C) c.*434T>C (n.*434T>C) c.639T>C (p.Gly213=) | |
| 1 | g.209790631A>T | CA423143440 | IRF6 | c.924T>A (p.Gly308=) c.*351T>A (n.*351T>A) c.*434T>A (n.*434T>A) c.639T>A (p.Gly213=) | |
| 1 | g.209790632C>A | CA344575846 | IRF6 | c.923G>T (p.Gly308Val) c.*350G>T (n.*350G>T) c.*433G>T (n.*433G>T) c.638G>T (p.Gly213Val) | |
| 1 | g.209790632C= | CA1142056807 | IRF6 | c.923G= (p.Gly308=) c.*350G= (n.*350G=) c.*433G= (n.*433G=) c.638G= (p.Gly213=) | |
| 1 | g.209790632C>G | CA344575854 | IRF6 | c.923G>C (p.Gly308Ala) c.*350G>C (n.*350G>C) c.*433G>C (n.*433G>C) c.638G>C (p.Gly213Ala) | |
| 1 | g.209790632C>T | CA1377233 | IRF6 | c.923G>A (p.Gly308Asp) c.*350G>A (n.*350G>A) c.*433G>A (n.*433G>A) c.638G>A (p.Gly213Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209790632_209790643del | CA2586968045 | IRF6 | c.912_923del (p.Glu305_Gly308del) c.*339_*350del (n.*339_*350del) c.*422_*433del (n.*422_*433del) c.627_638del (p.Glu210_Gly213del) | |
| 1 | g.209790633C>A | CA344575864 | IRF6 | c.922G>T (p.Gly308Cys) c.*349G>T (n.*349G>T) c.*432G>T (n.*432G>T) c.637G>T (p.Gly213Cys) | gnomAD v4 |
| 1 | g.209790633C>G | CA344575865 | IRF6 | c.922G>C (p.Gly308Arg) c.*349G>C (n.*349G>C) c.*432G>C (n.*432G>C) c.637G>C (p.Gly213Arg) | |
| 1 | g.209790633C>T | CA344575866 | IRF6 | c.922G>A (p.Gly308Ser) c.*349G>A (n.*349G>A) c.*432G>A (n.*432G>A) c.637G>A (p.Gly213Ser) | gnomAD v4 |
| 1 | g.209790634G>A | CA1377234 | IRF6 | c.921C>T (p.Ser307=) c.*348C>T (n.*348C>T) c.*431C>T (n.*431C>T) c.636C>T (p.Ser212=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.209790634G>C | CA344575874 | IRF6 | c.921C>G (p.Ser307Arg) c.*348C>G (n.*348C>G) c.*431C>G (n.*431C>G) c.636C>G (p.Ser212Arg) | |
| 1 | g.209790634G= | CA2484365552 | IRF6 | c.921C= (p.Ser307=) c.*348C= (n.*348C=) c.*431C= (n.*431C=) c.636C= (p.Ser212=) | |
| 1 | g.209790634G>T | CA344575870 | IRF6 | c.921C>A (p.Ser307Arg) c.*348C>A (n.*348C>A) c.*431C>A (n.*431C>A) c.636C>A (p.Ser212Arg) | dbSNP gnomAD v4 |
| 1 | g.209790635C>A | CA344575876 | IRF6 | c.920G>T (p.Ser307Ile) c.*347G>T (n.*347G>T) c.*430G>T (n.*430G>T) c.635G>T (p.Ser212Ile) | |
| 1 | g.209790635C>G | CA344575880 | IRF6 | c.920G>C (p.Ser307Thr) c.*347G>C (n.*347G>C) c.*430G>C (n.*430G>C) c.635G>C (p.Ser212Thr) | |
| 1 | g.209790635C>T | CA344575888 | IRF6 | c.920G>A (p.Ser307Asn) c.*347G>A (n.*347G>A) c.*430G>A (n.*430G>A) c.635G>A (p.Ser212Asn) | |
| 1 | g.209790636T>A | CA344575893 | IRF6 | c.919A>T (p.Ser307Cys) c.*346A>T (n.*346A>T) c.*429A>T (n.*429A>T) c.634A>T (p.Ser212Cys) | |
| 1 | g.209790636T>C | CA344575895 | IRF6 | c.919A>G (p.Ser307Gly) c.*346A>G (n.*346A>G) c.*429A>G (n.*429A>G) c.634A>G (p.Ser212Gly) | dbSNP |
| 1 | g.209790636T>G | CA344575897 | IRF6 | c.919A>C (p.Ser307Arg) c.*346A>C (n.*346A>C) c.*429A>C (n.*429A>C) c.634A>C (p.Ser212Arg) | |
| 1 | g.209790636T= | CA2484365553 | IRF6 | c.919A= (p.Ser307=) c.*346A= (n.*346A=) c.*429A= (n.*429A=) c.634A= (p.Ser212=) | |
| 1 | g.209790637G>A | CA423143454 | IRF6 | c.918C>T (p.Val306=) c.*345C>T (n.*345C>T) c.*428C>T (n.*428C>T) c.633C>T (p.Val211=) | |
| 1 | g.209790637G>C | CA423143453 | IRF6 | c.918C>G (p.Val306=) c.*345C>G (n.*345C>G) c.*428C>G (n.*428C>G) c.633C>G (p.Val211=) | |
| 1 | g.209790637G>T | CA423143452 | IRF6 | c.918C>A (p.Val306=) c.*345C>A (n.*345C>A) c.*428C>A (n.*428C>A) c.633C>A (p.Val211=) | |
| 1 | g.209790638A>C | CA344575902 | IRF6 | c.917T>G (p.Val306Gly) c.*344T>G (n.*344T>G) c.*427T>G (n.*427T>G) c.632T>G (p.Val211Gly) | |
| 1 | g.209790638A>G | CA344575906 | IRF6 | c.917T>C (p.Val306Ala) c.*344T>C (n.*344T>C) c.*427T>C (n.*427T>C) c.632T>C (p.Val211Ala) | |
| 1 | g.209790638A>T | CA344575904 | IRF6 | c.917T>A (p.Val306Asp) c.*344T>A (n.*344T>A) c.*427T>A (n.*427T>A) c.632T>A (p.Val211Asp) | |
| 1 | g.209790639C>A | CA344575909 | IRF6 | c.916G>T (p.Val306Phe) c.*343G>T (n.*343G>T) c.*426G>T (n.*426G>T) c.631G>T (p.Val211Phe) | COSMIC |
| 1 | g.209790639C= | CA2484365554 | IRF6 | c.916G= (p.Val306=) c.*343G= (n.*343G=) c.*426G= (n.*426G=) c.631G= (p.Val211=) | |
| 1 | g.209790639C>G | CA344575911 | IRF6 | c.916G>C (p.Val306Leu) c.*343G>C (n.*343G>C) c.*426G>C (n.*426G>C) c.631G>C (p.Val211Leu) | |
| 1 | g.209790639C>T | CA344575915 | IRF6 | c.916G>A (p.Val306Ile) c.*343G>A (n.*343G>A) c.*426G>A (n.*426G>A) c.631G>A (p.Val211Ile) | dbSNP COSMIC |
| 1 | g.209790640C>A | CA344575927 | IRF6 | c.915G>T (p.Glu305Asp) c.*342G>T (n.*342G>T) c.*425G>T (n.*425G>T) c.630G>T (p.Glu210Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209790640C= | CA2484365555 | IRF6 | c.915G= (p.Glu305=) c.*342G= (n.*342G=) c.*425G= (n.*425G=) c.630G= (p.Glu210=) | |
| 1 | g.209790640C>G | CA344575931 | IRF6 | c.915G>C (p.Glu305Asp) c.*342G>C (n.*342G>C) c.*425G>C (n.*425G>C) c.630G>C (p.Glu210Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209790640C>T | CA423143463 | IRF6 | c.915G>A (p.Glu305=) c.*342G>A (n.*342G>A) c.*425G>A (n.*425G>A) c.630G>A (p.Glu210=) | |
| 1 | g.209790641T>A | CA344575935 | IRF6 | c.914A>T (p.Glu305Val) c.*341A>T (n.*341A>T) c.*424A>T (n.*424A>T) c.629A>T (p.Glu210Val) | |
| 1 | g.209790641T>C | CA344575937 | IRF6 | c.914A>G (p.Glu305Gly) c.*341A>G (n.*341A>G) c.*424A>G (n.*424A>G) c.629A>G (p.Glu210Gly) | |
| 1 | g.209790641T>G | CA344575943 | IRF6 | c.914A>C (p.Glu305Ala) c.*341A>C (n.*341A>C) c.*424A>C (n.*424A>C) c.629A>C (p.Glu210Ala) | |
| 1 | g.209790642C>A | CA344575952 | IRF6 | c.913G>T (p.Glu305Ter) c.*340G>T (n.*340G>T) c.*423G>T (n.*423G>T) c.628G>T (p.Glu210Ter) | |
| 1 | g.209790642C>G | CA344575955 | IRF6 | c.913G>C (p.Glu305Gln) c.*340G>C (n.*340G>C) c.*423G>C (n.*423G>C) c.628G>C (p.Glu210Gln) | |
| 1 | g.209790642C>T | CA344575958 | IRF6 | c.913G>A (p.Glu305Lys) c.*340G>A (n.*340G>A) c.*423G>A (n.*423G>A) c.628G>A (p.Glu210Lys) | |
| 1 | g.209790643C>A | CA423143467 | IRF6 | c.912G>T (p.Leu304=) c.*339G>T (n.*339G>T) c.*422G>T (n.*422G>T) c.627G>T (p.Leu209=) | |
| 1 | g.209790643C>G | CA423143468 | IRF6 | c.912G>C (p.Leu304=) c.*339G>C (n.*339G>C) c.*422G>C (n.*422G>C) c.627G>C (p.Leu209=) | |
| 1 | g.209790643C>T | CA423143470 | IRF6 | c.912G>A (p.Leu304=) c.*339G>A (n.*339G>A) c.*422G>A (n.*422G>A) c.627G>A (p.Leu209=) | |
| 1 | g.209790644A= | CA2484365556 | IRF6 | c.911T= (p.Leu304=) c.*338T= (n.*338T=) c.*421T= (n.*421T=) c.626T= (p.Leu209=) | |
| 1 | g.209790644A>C | CA344575959 | IRF6 | c.911T>G (p.Leu304Arg) c.*338T>G (n.*338T>G) c.*421T>G (n.*421T>G) c.626T>G (p.Leu209Arg) | |
| 1 | g.209790644A>G | CA16617047 | IRF6 | c.911T>C (p.Leu304Pro) c.*338T>C (n.*338T>C) c.*421T>C (n.*421T>C) c.626T>C (p.Leu209Pro) | ClinVar dbSNP |
| 1 | g.209790644A>T | CA344575961 | IRF6 | c.911T>A (p.Leu304Gln) c.*338T>A (n.*338T>A) c.*421T>A (n.*421T>A) c.626T>A (p.Leu209Gln) | |
| 1 | g.209790645G>A | CA423143477 | IRF6 | c.910C>T (p.Leu304=) c.*337C>T (n.*337C>T) c.*420C>T (n.*420C>T) c.625C>T (p.Leu209=) | gnomAD v4 |
| 1 | g.209790645G>C | CA344575964 | IRF6 | c.910C>G (p.Leu304Val) c.*337C>G (n.*337C>G) c.*420C>G (n.*420C>G) c.625C>G (p.Leu209Val) | |
| 1 | g.209790645G>T | CA344575994 | IRF6 | c.910C>A (p.Leu304Met) c.*337C>A (n.*337C>A) c.*420C>A (n.*420C>A) c.625C>A (p.Leu209Met) |