| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.209788619_209788628del | CA344573484 | IRF6 | c.1198_1207del (p.Arg400ThrfsTer?) c.*625_*634del (n.*625_*634del) c.*708_*717del (n.*708_*717del) c.913_922del (p.Arg305ThrfsTer?) | |
| 1 | g.209788620_209788626del | CA344573532 | IRF6 | c.1198_1204del (p.Arg400SerfsTer?) c.*625_*631del (n.*625_*631del) c.*708_*714del (n.*708_*714del) c.913_919del (p.Arg305SerfsTer?) | |
| 1 | g.209788626G>A | CA252762 | IRF6 | c.1198C>T (p.Arg400Trp) c.*625C>T (n.*625C>T) c.*708C>T (n.*708C>T) c.913C>T (p.Arg305Trp) | ClinVar dbSNP |
| 1 | g.209788626G>C | CA344573571 | IRF6 | c.1198C>G (p.Arg400Gly) c.*625C>G (n.*625C>G) c.*708C>G (n.*708C>G) c.913C>G (p.Arg305Gly) | |
| 1 | g.209788626G= | CA1140496143 | IRF6 | c.1198C= (p.Arg400=) c.*625C= (n.*625C=) c.*708C= (n.*708C=) c.913C= (p.Arg305=) | |
| 1 | g.209788626G>T | CA423026778 | IRF6 | c.1198C>A (p.Arg400=) c.*625C>A (n.*625C>A) c.*708C>A (n.*708C>A) c.913C>A (p.Arg305=) | |
| 1 | g.209788626dup | CA36752380 | IRF6 | c.1198dup (p.Arg400ProfsTer10) c.*625dup (n.*625dup) c.*708dup (n.*708dup) c.913dup (p.Arg305ProfsTer10) | dbSNP |
| 1 | g.209788627A>C | CA423026789 | IRF6 | c.1197T>G (p.Ala399=) c.*624T>G (n.*624T>G) c.*707T>G (n.*707T>G) c.912T>G (p.Ala304=) | |
| 1 | g.209788627A>G | CA423026793 | IRF6 | c.1197T>C (p.Ala399=) c.*624T>C (n.*624T>C) c.*707T>C (n.*707T>C) c.912T>C (p.Ala304=) | |
| 1 | g.209788627A>T | CA423026795 | IRF6 | c.1197T>A (p.Ala399=) c.*624T>A (n.*624T>A) c.*707T>A (n.*707T>A) c.912T>A (p.Ala304=) | |
| 1 | g.209788628G>A | CA344573574 | IRF6 | c.1196C>T (p.Ala399Val) c.*623C>T (n.*623C>T) c.*706C>T (n.*706C>T) c.911C>T (p.Ala304Val) | |
| 1 | g.209788628G>C | CA344573578 | IRF6 | c.1196C>G (p.Ala399Gly) c.*623C>G (n.*623C>G) c.*706C>G (n.*706C>G) c.911C>G (p.Ala304Gly) | |
| 1 | g.209788628G>T | CA344573576 | IRF6 | c.1196C>A (p.Ala399Asp) c.*623C>A (n.*623C>A) c.*706C>A (n.*706C>A) c.911C>A (p.Ala304Asp) | |
| 1 | g.209788628_209788629delinsGC | CA2484364834 | IRF6 | c.1195_1196delinsGC (p.Ala399=) c.*622_*623delinsGC (n.*622_*623delinsGC) c.*705_*706delinsGC (n.*705_*706delinsGC) c.910_911delinsGC (p.Ala304=) | |
| 1 | g.209788629C>A | CA344573581 | IRF6 | c.1195G>T (p.Ala399Ser) c.*622G>T (n.*622G>T) c.*705G>T (n.*705G>T) c.910G>T (p.Ala304Ser) | |
| 1 | g.209788629C>G | CA344573582 | IRF6 | c.1195G>C (p.Ala399Pro) c.*622G>C (n.*622G>C) c.*705G>C (n.*705G>C) c.910G>C (p.Ala304Pro) | |
| 1 | g.209788629C>T | CA344573583 | IRF6 | c.1195G>A (p.Ala399Thr) c.*622G>A (n.*622G>A) c.*705G>A (n.*705G>A) c.910G>A (p.Ala304Thr) | |
| 1 | g.209788630del | CA658655632 | IRF6 | c.1195del (p.Ala399LeufsTer3) c.*622del (n.*622del) c.*705del (n.*705del) c.910del (p.Ala304LeufsTer3) | ClinVar dbSNP |
| 1 | g.209788630C>A | CA423026809 | IRF6 | c.1194G>T (p.Val398=) c.*621G>T (n.*621G>T) c.*704G>T (n.*704G>T) c.909G>T (p.Val303=) | |
| 1 | g.209788630C>G | CA423026821 | IRF6 | c.1194G>C (p.Val398=) c.*621G>C (n.*621G>C) c.*704G>C (n.*704G>C) c.909G>C (p.Val303=) | |
| 1 | g.209788630C>T | CA423026825 | IRF6 | c.1194G>A (p.Val398=) c.*621G>A (n.*621G>A) c.*704G>A (n.*704G>A) c.909G>A (p.Val303=) | |
| 1 | g.209788631A>C | CA344573585 | IRF6 | c.1193T>G (p.Val398Gly) c.*620T>G (n.*620T>G) c.*703T>G (n.*703T>G) c.908T>G (p.Val303Gly) | |
| 1 | g.209788631A>G | CA344573586 | IRF6 | c.1193T>C (p.Val398Ala) c.*620T>C (n.*620T>C) c.*703T>C (n.*703T>C) c.908T>C (p.Val303Ala) | |
| 1 | g.209788631A>T | CA344573587 | IRF6 | c.1193T>A (p.Val398Glu) c.*620T>A (n.*620T>A) c.*703T>A (n.*703T>A) c.908T>A (p.Val303Glu) | |
| 1 | g.209788632C>A | CA344573588 | IRF6 | c.1192G>T (p.Val398Leu) c.*619G>T (n.*619G>T) c.*702G>T (n.*702G>T) c.907G>T (p.Val303Leu) | |
| 1 | g.209788632C>G | CA344573589 | IRF6 | c.1192G>C (p.Val398Leu) c.*619G>C (n.*619G>C) c.*702G>C (n.*702G>C) c.907G>C (p.Val303Leu) | |
| 1 | g.209788632C>T | CA344573590 | IRF6 | c.1192G>A (p.Val398Met) c.*619G>A (n.*619G>A) c.*702G>A (n.*702G>A) c.907G>A (p.Val303Met) | |
| 1 | g.209788632_209788633insCTACTGGAAT | CA645526281 | IRF6 | c.1191_1192insATTCCAGTAG (p.Val398IlefsTer15) c.*618_*619insATTCCAGTAG (n.*618_*619insATTCCAGTAG) c.*701_*702insATTCCAGTAG (n.*701_*702insATTCCAGTAG) c.906_907insATTCCAGTAG (p.Val303IlefsTer15) | COSMIC |
| 1 | g.209788633T>A | CA423026867 | IRF6 | c.1191A>T (p.Val397=) c.*618A>T (n.*618A>T) c.*701A>T (n.*701A>T) c.906A>T (p.Val302=) | |
| 1 | g.209788633T>C | CA423026868 | IRF6 | c.1191A>G (p.Val397=) c.*618A>G (n.*618A>G) c.*701A>G (n.*701A>G) c.906A>G (p.Val302=) | |
| 1 | g.209788633T>G | CA423026869 | IRF6 | c.1191A>C (p.Val397=) c.*618A>C (n.*618A>C) c.*701A>C (n.*701A>C) c.906A>C (p.Val302=) | |
| 1 | g.209788634A>C | CA344573594 | IRF6 | c.1190T>G (p.Val397Gly) c.*617T>G (n.*617T>G) c.*700T>G (n.*700T>G) c.905T>G (p.Val302Gly) | |
| 1 | g.209788634A>G | CA344573592 | IRF6 | c.1190T>C (p.Val397Ala) c.*617T>C (n.*617T>C) c.*700T>C (n.*700T>C) c.905T>C (p.Val302Ala) | ClinVar |
| 1 | g.209788634A>T | CA344573591 | IRF6 | c.1190T>A (p.Val397Glu) c.*617T>A (n.*617T>A) c.*700T>A (n.*700T>A) c.905T>A (p.Val302Glu) | |
| 1 | g.209788635C>A | CA344573603 | IRF6 | c.1189G>T (p.Val397Leu) c.*616G>T (n.*616G>T) c.*699G>T (n.*699G>T) c.904G>T (p.Val302Leu) | |
| 1 | g.209788635C>G | CA344573607 | IRF6 | c.1189G>C (p.Val397Leu) c.*616G>C (n.*616G>C) c.*699G>C (n.*699G>C) c.904G>C (p.Val302Leu) | |
| 1 | g.209788635C>T | CA344573606 | IRF6 | c.1189G>A (p.Val397Ile) c.*616G>A (n.*616G>A) c.*699G>A (n.*699G>A) c.904G>A (p.Val302Ile) | |
| 1 | g.209788636T>A | CA423026879 | IRF6 | c.1188A>T (p.Pro396=) c.*615A>T (n.*615A>T) c.*698A>T (n.*698A>T) c.903A>T (p.Pro301=) | |
| 1 | g.209788636T>C | CA1377175 | IRF6 | c.1188A>G (p.Pro396=) c.*615A>G (n.*615A>G) c.*698A>G (n.*698A>G) c.903A>G (p.Pro301=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209788636T>G | CA423026882 | IRF6 | c.1188A>C (p.Pro396=) c.*615A>C (n.*615A>C) c.*698A>C (n.*698A>C) c.903A>C (p.Pro301=) | dbSNP gnomAD v4 |
| 1 | g.209788636T= | CA1141812756 | IRF6 | c.1188A= (p.Pro396=) c.*615A= (n.*615A=) c.*698A= (n.*698A=) c.903A= (p.Pro301=) | |
| 1 | g.209788637G>A | CA344573609 | IRF6 | c.1187C>T (p.Pro396Leu) c.*614C>T (n.*614C>T) c.*697C>T (n.*697C>T) c.902C>T (p.Pro301Leu) | |
| 1 | g.209788637G>C | CA344573612 | IRF6 | c.1187C>G (p.Pro396Arg) c.*614C>G (n.*614C>G) c.*697C>G (n.*697C>G) c.902C>G (p.Pro301Arg) | |
| 1 | g.209788637G>T | CA344573616 | IRF6 | c.1187C>A (p.Pro396Gln) c.*614C>A (n.*614C>A) c.*697C>A (n.*697C>A) c.902C>A (p.Pro301Gln) | |
| 1 | g.209788638G>A | CA252765 | IRF6 | c.1186C>T (p.Pro396Ser) c.*613C>T (n.*613C>T) c.*696C>T (n.*696C>T) c.901C>T (p.Pro301Ser) | ClinVar dbSNP gnomAD v4 |
| 1 | g.209788638G>C | CA344573626 | IRF6 | c.1186C>G (p.Pro396Ala) c.*613C>G (n.*613C>G) c.*696C>G (n.*696C>G) c.901C>G (p.Pro301Ala) | |
| 1 | g.209788638G= | CA1141581363 | IRF6 | c.1186C= (p.Pro396=) c.*613C= (n.*613C=) c.*696C= (n.*696C=) c.901C= (p.Pro301=) | |
| 1 | g.209788638G>T | CA344573627 | IRF6 | c.1186C>A (p.Pro396Thr) c.*613C>A (n.*613C>A) c.*696C>A (n.*696C>A) c.901C>A (p.Pro301Thr) | |
| 1 | g.209788639A>C | CA344573628 | IRF6 | c.1185T>G (p.Ile395Met) c.*612T>G (n.*612T>G) c.*695T>G (n.*695T>G) c.900T>G (p.Ile300Met) | |
| 1 | g.209788639A>G | CA423026893 | IRF6 | c.1185T>C (p.Ile395=) c.*612T>C (n.*612T>C) c.*695T>C (n.*695T>C) c.900T>C (p.Ile300=) |