| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.209788526A= | CA2484364796 | IRF6 | c.1298T= (p.Val433=) c.*725T= (n.*725T=) c.*808T= (n.*808T=) c.1013T= (p.Val338=) | |
| 1 | g.209788526A>C | CA344572928 | IRF6 | c.1298T>G (p.Val433Gly) c.*725T>G (n.*725T>G) c.*808T>G (n.*808T>G) c.1013T>G (p.Val338Gly) | |
| 1 | g.209788526A>G | CA344572930 | IRF6 | c.1298T>C (p.Val433Ala) c.*725T>C (n.*725T>C) c.*808T>C (n.*808T>C) c.1013T>C (p.Val338Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209788526A>T | CA344572932 | IRF6 | c.1298T>A (p.Val433Asp) c.*725T>A (n.*725T>A) c.*808T>A (n.*808T>A) c.1013T>A (p.Val338Asp) | |
| 1 | g.209788527C>A | CA344572935 | IRF6 | c.1297G>T (p.Val433Phe) c.*724G>T (n.*724G>T) c.*807G>T (n.*807G>T) c.1012G>T (p.Val338Phe) | |
| 1 | g.209788527C>G | CA344572937 | IRF6 | c.1297G>C (p.Val433Leu) c.*724G>C (n.*724G>C) c.*807G>C (n.*807G>C) c.1012G>C (p.Val338Leu) | |
| 1 | g.209788527C>T | CA344572940 | IRF6 | c.1297G>A (p.Val433Ile) c.*724G>A (n.*724G>A) c.*807G>A (n.*807G>A) c.1012G>A (p.Val338Ile) | |
| 1 | g.209788527_209788528delinsAA | CA2586968026 | IRF6 | c.1296_1297delinsTT (p.Val433Phe) c.*723_*724delinsTT (n.*723_*724delinsTT) c.*806_*807delinsTT (n.*806_*807delinsTT) c.1011_1012delinsTT (p.Val338Phe) | |
| 1 | g.209788528_209788536del | CA2522092021 | IRF6 | c.1289_1297del (p.Asp430_Ile432del) c.*716_*724del (n.*716_*724del) c.*799_*807del (n.*799_*807del) c.1004_1012del (p.Asp335_Ile337del) | |
| 1 | g.209788528G>A | CA1377149 | IRF6 | c.1296C>T (p.Ile432=) c.*723C>T (n.*723C>T) c.*806C>T (n.*806C>T) c.1011C>T (p.Ile337=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.209788528G>C | CA344572944 | IRF6 | c.1296C>G (p.Ile432Met) c.*723C>G (n.*723C>G) c.*806C>G (n.*806C>G) c.1011C>G (p.Ile337Met) | COSMIC |
| 1 | g.209788528G= | CA2484364797 | IRF6 | c.1296C= (p.Ile432=) c.*723C= (n.*723C=) c.*806C= (n.*806C=) c.1011C= (p.Ile337=) | |
| 1 | g.209788528G>T | CA423025575 | IRF6 | c.1296C>A (p.Ile432=) c.*723C>A (n.*723C>A) c.*806C>A (n.*806C>A) c.1011C>A (p.Ile337=) | |
| 1 | g.209788528_209788533del | CA2586968027 | IRF6 | c.1291_1296del (p.Asn431_Ile432del) c.*718_*723del (n.*718_*723del) c.*801_*806del (n.*801_*806del) c.1006_1011del (p.Asn336_Ile337del) | |
| 1 | g.209788529A= | CA2484364798 | IRF6 | c.1295T= (p.Ile432=) c.*722T= (n.*722T=) c.*805T= (n.*805T=) c.1010T= (p.Ile337=) | |
| 1 | g.209788529A>C | CA344572946 | IRF6 | c.1295T>G (p.Ile432Ser) c.*722T>G (n.*722T>G) c.*805T>G (n.*805T>G) c.1010T>G (p.Ile337Ser) | |
| 1 | g.209788529A>G | CA1377150 | IRF6 | c.1295T>C (p.Ile432Thr) c.*722T>C (n.*722T>C) c.*805T>C (n.*805T>C) c.1010T>C (p.Ile337Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209788529A>T | CA344572952 | IRF6 | c.1295T>A (p.Ile432Asn) c.*722T>A (n.*722T>A) c.*805T>A (n.*805T>A) c.1010T>A (p.Ile337Asn) | |
| 1 | g.209788530T>A | CA344572954 | IRF6 | c.1294A>T (p.Ile432Phe) c.*721A>T (n.*721A>T) c.*804A>T (n.*804A>T) c.1009A>T (p.Ile337Phe) | |
| 1 | g.209788530T>C | CA36752340 | IRF6 | c.1294A>G (p.Ile432Val) c.*721A>G (n.*721A>G) c.*804A>G (n.*804A>G) c.1009A>G (p.Ile337Val) | dbSNP |
| 1 | g.209788530T>G | CA344572958 | IRF6 | c.1294A>C (p.Ile432Leu) c.*721A>C (n.*721A>C) c.*804A>C (n.*804A>C) c.1009A>C (p.Ile337Leu) | |
| 1 | g.209788530T= | CA2484364799 | IRF6 | c.1294A= (p.Ile432=) c.*721A= (n.*721A=) c.*804A= (n.*804A=) c.1009A= (p.Ile337=) | |
| 1 | g.209788531G>A | CA423025606 | IRF6 | c.1293C>T (p.Asn431=) c.*720C>T (n.*720C>T) c.*803C>T (n.*803C>T) c.1008C>T (p.Asn336=) | |
| 1 | g.209788531G>C | CA344572961 | IRF6 | c.1293C>G (p.Asn431Lys) c.*720C>G (n.*720C>G) c.*803C>G (n.*803C>G) c.1008C>G (p.Asn336Lys) | |
| 1 | g.209788531G>T | CA344572963 | IRF6 | c.1293C>A (p.Asn431Lys) c.*720C>A (n.*720C>A) c.*803C>A (n.*803C>A) c.1008C>A (p.Asn336Lys) | |
| 1 | g.209788532T>A | CA344572967 | IRF6 | c.1292A>T (p.Asn431Ile) c.*719A>T (n.*719A>T) c.*802A>T (n.*802A>T) c.1007A>T (p.Asn336Ile) | |
| 1 | g.209788532T>C | CA1377151 | IRF6 | c.1292A>G (p.Asn431Ser) c.*719A>G (n.*719A>G) c.*802A>G (n.*802A>G) c.1007A>G (p.Asn336Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209788532T>G | CA344572970 | IRF6 | c.1292A>C (p.Asn431Thr) c.*719A>C (n.*719A>C) c.*802A>C (n.*802A>C) c.1007A>C (p.Asn336Thr) | ClinVar dbSNP |
| 1 | g.209788532T= | CA2484364800 | IRF6 | c.1292A= (p.Asn431=) c.*719A= (n.*719A=) c.*802A= (n.*802A=) c.1007A= (p.Asn336=) | |
| 1 | g.209788533T>A | CA344572971 | IRF6 | c.1291A>T (p.Asn431Tyr) c.*718A>T (n.*718A>T) c.*801A>T (n.*801A>T) c.1006A>T (p.Asn336Tyr) | |
| 1 | g.209788533T>C | CA344572972 | IRF6 | c.1291A>G (p.Asn431Asp) c.*718A>G (n.*718A>G) c.*801A>G (n.*801A>G) c.1006A>G (p.Asn336Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209788533T>G | CA344572974 | IRF6 | c.1291A>C (p.Asn431His) c.*718A>C (n.*718A>C) c.*801A>C (n.*801A>C) c.1006A>C (p.Asn336His) | |
| 1 | g.209788533T= | CA2484364801 | IRF6 | c.1291A= (p.Asn431=) c.*718A= (n.*718A=) c.*801A= (n.*801A=) c.1006A= (p.Asn336=) | |
| 1 | g.209788534A>C | CA344572975 | IRF6 | c.1290T>G (p.Asp430Glu) c.*717T>G (n.*717T>G) c.*800T>G (n.*800T>G) c.1005T>G (p.Asp335Glu) | |
| 1 | g.209788534A>G | CA423025638 | IRF6 | c.1290T>C (p.Asp430=) c.*717T>C (n.*717T>C) c.*800T>C (n.*800T>C) c.1005T>C (p.Asp335=) | |
| 1 | g.209788534A>T | CA344572979 | IRF6 | c.1290T>A (p.Asp430Glu) c.*717T>A (n.*717T>A) c.*800T>A (n.*800T>A) c.1005T>A (p.Asp335Glu) | |
| 1 | g.209788535T>A | CA344572984 | IRF6 | c.1289A>T (p.Asp430Val) c.*716A>T (n.*716A>T) c.*799A>T (n.*799A>T) c.1004A>T (p.Asp335Val) | |
| 1 | g.209788535T>C | CA344572989 | IRF6 | c.1289A>G (p.Asp430Gly) c.*716A>G (n.*716A>G) c.*799A>G (n.*799A>G) c.1004A>G (p.Asp335Gly) | COSMIC |
| 1 | g.209788535T>G | CA344572987 | IRF6 | c.1289A>C (p.Asp430Ala) c.*716A>C (n.*716A>C) c.*799A>C (n.*799A>C) c.1004A>C (p.Asp335Ala) | |
| 1 | g.209788536C>A | CA344572993 | IRF6 | c.1288G>T (p.Asp430Tyr) c.*715G>T (n.*715G>T) c.*798G>T (n.*798G>T) c.1003G>T (p.Asp335Tyr) | |
| 1 | g.209788536C>G | CA344573006 | IRF6 | c.1288G>C (p.Asp430His) c.*715G>C (n.*715G>C) c.*798G>C (n.*798G>C) c.1003G>C (p.Asp335His) | |
| 1 | g.209788536C>T | CA344573009 | IRF6 | c.1288G>A (p.Asp430Asn) c.*715G>A (n.*715G>A) c.*798G>A (n.*798G>A) c.1003G>A (p.Asp335Asn) | |
| 1 | g.209788537C>A | CA344573012 | IRF6 | c.1287G>T (p.Lys429Asn) c.*714G>T (n.*714G>T) c.*797G>T (n.*797G>T) c.1002G>T (p.Lys334Asn) | |
| 1 | g.209788537C= | CA2484364802 | IRF6 | c.1287G= (p.Lys429=) c.*714G= (n.*714G=) c.*797G= (n.*797G=) c.1002G= (p.Lys334=) | |
| 1 | g.209788537C>G | CA1377152 | IRF6 | c.1287G>C (p.Lys429Asn) c.*714G>C (n.*714G>C) c.*797G>C (n.*797G>C) c.1002G>C (p.Lys334Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209788537C>T | CA423025694 | IRF6 | c.1287G>A (p.Lys429=) c.*714G>A (n.*714G>A) c.*797G>A (n.*797G>A) c.1002G>A (p.Lys334=) | dbSNP gnomAD v4 |
| 1 | g.209788538T>A | CA344573017 | IRF6 | c.1286A>T (p.Lys429Met) c.*713A>T (n.*713A>T) c.*796A>T (n.*796A>T) c.1001A>T (p.Lys334Met) | |
| 1 | g.209788538T>C | CA344573019 | IRF6 | c.1286A>G (p.Lys429Arg) c.*713A>G (n.*713A>G) c.*796A>G (n.*796A>G) c.1001A>G (p.Lys334Arg) | gnomAD v4 |
| 1 | g.209788538T>G | CA344573022 | IRF6 | c.1286A>C (p.Lys429Thr) c.*713A>C (n.*713A>C) c.*796A>C (n.*796A>C) c.1001A>C (p.Lys334Thr) | |
| 1 | g.209788539T>A | CA344573025 | IRF6 | c.1285A>T (p.Lys429Ter) c.*712A>T (n.*712A>T) c.*795A>T (n.*795A>T) c.1000A>T (p.Lys334Ter) |