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.209788418A= | CA2484364756 | IRF6 | c.1400+6T= (n.1400+6T=) c.*833T= (n.*833T=) c.*2T= (n.*2T=) c.*916T= (n.*916T=) | |
| 1 | g.209788418A>T | CA529000517 | IRF6 | c.1400+6T>A (n.1400+6T>A) c.*833T>A (n.*833T>A) c.*2T>A (n.*2T>A) c.*916T>A (n.*916T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209788419A= | CA2484364757 | IRF6 | c.1400+5T= (n.1400+5T=) c.*832T= (n.*832T=) c.*1T= (n.*1T=) c.*915T= (n.*915T=) | |
| 1 | g.209788419A>C | CA2650334020 | IRF6 | c.1400+5T>G (n.1400+5T>G) c.*832T>G (n.*832T>G) c.*1T>G (n.*1T>G) c.*915T>G (n.*915T>G) | gnomAD v4 |
| 1 | g.209788419A>G | CA2650334021 | IRF6 | c.1400+5T>C (n.1400+5T>C) c.*832T>C (n.*832T>C) c.*1T>C (n.*1T>C) c.*915T>C (n.*915T>C) | gnomAD v4 |
| 1 | g.209788419A>T | CA1377135 | IRF6 | c.1400+5T>A (n.1400+5T>A) c.*832T>A (n.*832T>A) c.*1T>A (n.*1T>A) c.*915T>A (n.*915T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209788420T>A | CA344572482 | IRF6 | c.1400+4A>T (n.1400+4A>T) c.*831A>T (n.*831A>T) c.1404A>T (p.Ter468Tyr) c.*914A>T (n.*914A>T) c.1119A>T (p.Ter373Tyr) | |
| 1 | g.209788420T>C | CA423024441 | IRF6 | c.1400+4A>G (n.1400+4A>G) c.*831A>G (n.*831A>G) c.1404A>G (p.Ter468=) c.*914A>G (n.*914A>G) c.1119A>G (p.Ter373=) | gnomAD v4 |
| 1 | g.209788420T>G | CA344572483 | IRF6 | c.1400+4A>C (n.1400+4A>C) c.*831A>C (n.*831A>C) c.1404A>C (p.Ter468Tyr) c.*914A>C (n.*914A>C) c.1119A>C (p.Ter373Tyr) | |
| 1 | g.209788421T>A | CA344572485 | IRF6 | c.1400+3A>T (n.1400+3A>T) c.*830A>T (n.*830A>T) c.1403A>T (p.Ter468Leu) c.*913A>T (n.*913A>T) c.1118A>T (p.Ter373Leu) | |
| 1 | g.209788421T>C | CA423024451 | IRF6 | c.1400+3A>G (n.1400+3A>G) c.*830A>G (n.*830A>G) c.1403A>G (p.Ter468=) c.*913A>G (n.*913A>G) c.1118A>G (p.Ter373=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209788421T>G | CA344572487 | IRF6 | c.1400+3A>C (n.1400+3A>C) c.*830A>C (n.*830A>C) c.1403A>C (p.Ter468Ser) c.*913A>C (n.*913A>C) c.1118A>C (p.Ter373Ser) | |
| 1 | g.209788421T= | CA2484364758 | IRF6 | c.1400+3A= (n.1400+3A=) c.*830A= (n.*830A=) c.1403A= (p.Ter468=) c.*913A= (n.*913A=) c.1118A= (p.Ter373=) | |
| 1 | g.209788422A>C | CA344572489 | IRF6 | c.1400+2T>G (n.1400+2T>G) c.*829T>G (n.*829T>G) c.1402T>G (p.Ter468Glu) c.*912T>G (n.*912T>G) c.1117T>G (p.Ter373Glu) | gnomAD v4 |
| 1 | g.209788422A>G | CA344572490 | IRF6 | c.1400+2T>C (n.1400+2T>C) c.*829T>C (n.*829T>C) c.1402T>C (p.Ter468Gln) c.*912T>C (n.*912T>C) c.1117T>C (p.Ter373Gln) | |
| 1 | g.209788422A>T | CA344572492 | IRF6 | c.1400+2T>A (n.1400+2T>A) c.*829T>A (n.*829T>A) c.1402T>A (p.Ter468Lys) c.*912T>A (n.*912T>A) c.1117T>A (p.Ter373Lys) | |
| 1 | g.209788423C>A | CA344572494 | IRF6 | c.1400+1G>T (n.1400+1G>T) c.*828G>T (n.*828G>T) c.1401G>T (p.Gln467His) c.*911G>T (n.*911G>T) c.1116G>T (p.Gln372His) | |
| 1 | g.209788423C>G | CA344572496 | IRF6 | c.1400+1G>C (n.1400+1G>C) c.*828G>C (n.*828G>C) c.1401G>C (p.Gln467His) c.*911G>C (n.*911G>C) c.1116G>C (p.Gln372His) | |
| 1 | g.209788423C>T | CA423024467 | IRF6 | c.1400+1G>A (n.1400+1G>A) c.*828G>A (n.*828G>A) c.1401G>A (p.Gln467=) c.*911G>A (n.*911G>A) c.1116G>A (p.Gln372=) | |
| 1 | g.209788424T>A | CA344572498 | IRF6 | c.1400A>T (p.Gln467Leu) c.*827A>T (n.*827A>T) c.*910A>T (n.*910A>T) c.1115A>T (p.Gln372Leu) | |
| 1 | g.209788424T>C | CA344572499 | IRF6 | c.1400A>G (p.Gln467Arg) c.*827A>G (n.*827A>G) c.*910A>G (n.*910A>G) c.1115A>G (p.Gln372Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209788424T>G | CA344572501 | IRF6 | c.1400A>C (p.Gln467Pro) c.*827A>C (n.*827A>C) c.*910A>C (n.*910A>C) c.1115A>C (p.Gln372Pro) | gnomAD v4 |
| 1 | g.209788424T= | CA2484364759 | IRF6 | c.1400A= (p.Gln467=) c.*827A= (n.*827A=) c.*910A= (n.*910A=) c.1115A= (p.Gln372=) | |
| 1 | g.209788425G>A | CA344572507 | IRF6 | c.1399C>T (p.Gln467Ter) c.*826C>T (n.*826C>T) c.*909C>T (n.*909C>T) c.1114C>T (p.Gln372Ter) | |
| 1 | g.209788425G>C | CA344572505 | IRF6 | c.1399C>G (p.Gln467Glu) c.*826C>G (n.*826C>G) c.*909C>G (n.*909C>G) c.1114C>G (p.Gln372Glu) | |
| 1 | g.209788425G>T | CA344572503 | IRF6 | c.1399C>A (p.Gln467Lys) c.*826C>A (n.*826C>A) c.*909C>A (n.*909C>A) c.1114C>A (p.Gln372Lys) | |
| 1 | g.209788428del | CA2650334033 | IRF6 | c.1399del (p.Gln467SerfsTer?) c.*826del (n.*826del) c.1399del (p.Gln467SerfsTer24) c.*909del (n.*909del) c.1114del (p.Gln372SerfsTer24) | gnomAD v4 |
| 1 | g.209788426G>A | CA423024484 | IRF6 | c.1398C>T (p.Pro466=) c.*825C>T (n.*825C>T) c.*908C>T (n.*908C>T) c.1113C>T (p.Pro371=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209788426G>C | CA423024489 | IRF6 | c.1398C>G (p.Pro466=) c.*825C>G (n.*825C>G) c.*908C>G (n.*908C>G) c.1113C>G (p.Pro371=) | |
| 1 | g.209788426G= | CA2484364760 | IRF6 | c.1398C= (p.Pro466=) c.*825C= (n.*825C=) c.*908C= (n.*908C=) c.1113C= (p.Pro371=) | |
| 1 | g.209788426G>T | CA423024491 | IRF6 | c.1398C>A (p.Pro466=) c.*825C>A (n.*825C>A) c.*908C>A (n.*908C>A) c.1113C>A (p.Pro371=) | |
| 1 | g.209788427G>A | CA344572509 | IRF6 | c.1397C>T (p.Pro466Leu) c.*824C>T (n.*824C>T) c.*907C>T (n.*907C>T) c.1112C>T (p.Pro371Leu) | COSMIC |
| 1 | g.209788427G>C | CA344572511 | IRF6 | c.1397C>G (p.Pro466Arg) c.*824C>G (n.*824C>G) c.*907C>G (n.*907C>G) c.1112C>G (p.Pro371Arg) | |
| 1 | g.209788427G= | CA2484364761 | IRF6 | c.1397C= (p.Pro466=) c.*824C= (n.*824C=) c.*907C= (n.*907C=) c.1112C= (p.Pro371=) | |
| 1 | g.209788427G>T | CA344572513 | IRF6 | c.1397C>A (p.Pro466His) c.*824C>A (n.*824C>A) c.*907C>A (n.*907C>A) c.1112C>A (p.Pro371His) | dbSNP |
| 1 | g.209788428G>A | CA344572515 | IRF6 | c.1396C>T (p.Pro466Ser) c.*823C>T (n.*823C>T) c.*906C>T (n.*906C>T) c.1111C>T (p.Pro371Ser) | |
| 1 | g.209788428G>C | CA344572517 | IRF6 | c.1396C>G (p.Pro466Ala) c.*823C>G (n.*823C>G) c.*906C>G (n.*906C>G) c.1111C>G (p.Pro371Ala) | |
| 1 | g.209788428G>T | CA344572519 | IRF6 | c.1396C>A (p.Pro466Thr) c.*823C>A (n.*823C>A) c.*906C>A (n.*906C>A) c.1111C>A (p.Pro371Thr) | |
| 1 | g.209788429A= | CA2484364762 | IRF6 | c.1395T= (p.Pro465=) c.*822T= (n.*822T=) c.*905T= (n.*905T=) c.1110T= (p.Pro370=) | |
| 1 | g.209788429A>C | CA423024516 | IRF6 | c.1395T>G (p.Pro465=) c.*822T>G (n.*822T>G) c.*905T>G (n.*905T>G) c.1110T>G (p.Pro370=) | |
| 1 | g.209788429A>G | CA423024520 | IRF6 | c.1395T>C (p.Pro465=) c.*822T>C (n.*822T>C) c.*905T>C (n.*905T>C) c.1110T>C (p.Pro370=) | |
| 1 | g.209788429A>T | CA423024527 | IRF6 | c.1395T>A (p.Pro465=) c.*822T>A (n.*822T>A) c.*905T>A (n.*905T>A) c.1110T>A (p.Pro370=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209788430G>A | CA344572522 | IRF6 | c.1394C>T (p.Pro465Leu) c.*821C>T (n.*821C>T) c.*904C>T (n.*904C>T) c.1109C>T (p.Pro370Leu) | |
| 1 | g.209788430G>C | CA344572524 | IRF6 | c.1394C>G (p.Pro465Arg) c.*821C>G (n.*821C>G) c.*904C>G (n.*904C>G) c.1109C>G (p.Pro370Arg) | |
| 1 | g.209788430G>T | CA344572525 | IRF6 | c.1394C>A (p.Pro465His) c.*821C>A (n.*821C>A) c.*904C>A (n.*904C>A) c.1109C>A (p.Pro370His) | |
| 1 | g.209788430_209788431del | CA2586968015 | IRF6 | c.1393_1394del (p.Pro465SerfsTer10) c.*820_*821del (n.*820_*821del) c.1393_1394del (p.Pro465SerfsTer?) c.*903_*904del (n.*903_*904del) c.1108_1109del (p.Pro370SerfsTer?) | |
| 1 | g.209788437_209788441del | CA2574124886 | IRF6 | c.1390_1394del (p.Leu464SerfsTer10) c.*817_*821del (n.*817_*821del) c.1390_1394del (p.Leu464SerfsTer?) c.*900_*904del (n.*900_*904del) c.1105_1109del (p.Leu369SerfsTer?) | |
| 1 | g.209788431G>A | CA344572527 | IRF6 | c.1393C>T (p.Pro465Ser) c.*820C>T (n.*820C>T) c.*903C>T (n.*903C>T) c.1108C>T (p.Pro370Ser) | |
| 1 | g.209788431G>C | CA344572529 | IRF6 | c.1393C>G (p.Pro465Ala) c.*820C>G (n.*820C>G) c.*903C>G (n.*903C>G) c.1108C>G (p.Pro370Ala) | |
| 1 | g.209788431G>T | CA344572531 | IRF6 | c.1393C>A (p.Pro465Thr) c.*820C>A (n.*820C>A) c.*903C>A (n.*903C>A) c.1108C>A (p.Pro370Thr) | gnomAD v4 |
| 1 | g.209788432C>A | CA423024546 | IRF6 | c.1392G>T (p.Leu464=) c.*819G>T (n.*819G>T) c.*902G>T (n.*902G>T) c.1107G>T (p.Leu369=) | |
| 1 | g.209788432C= | CA2484364763 | IRF6 | c.1392G= (p.Leu464=) c.*819G= (n.*819G=) c.*902G= (n.*902G=) c.1107G= (p.Leu369=) | |
| 1 | g.209788432C>G | CA423024547 | IRF6 | c.1392G>C (p.Leu464=) c.*819G>C (n.*819G>C) c.*902G>C (n.*902G>C) c.1107G>C (p.Leu369=) | |
| 1 | g.209788432C>T | CA423024545 | IRF6 | c.1392G>A (p.Leu464=) c.*819G>A (n.*819G>A) c.*902G>A (n.*902G>A) c.1107G>A (p.Leu369=) | dbSNP gnomAD v4 |
| 1 | g.209788433A>C | CA344572536 | IRF6 | c.1391T>G (p.Leu464Arg) c.*818T>G (n.*818T>G) c.*901T>G (n.*901T>G) c.1106T>G (p.Leu369Arg) | |
| 1 | g.209788433A>G | CA344572535 | IRF6 | c.1391T>C (p.Leu464Pro) c.*818T>C (n.*818T>C) c.*901T>C (n.*901T>C) c.1106T>C (p.Leu369Pro) | |
| 1 | g.209788433A>T | CA344572533 | IRF6 | c.1391T>A (p.Leu464Gln) c.*818T>A (n.*818T>A) c.*901T>A (n.*901T>A) c.1106T>A (p.Leu369Gln) | |
| 1 | g.209788434G>A | CA423024558 | IRF6 | c.1390C>T (p.Leu464=) c.*817C>T (n.*817C>T) c.*900C>T (n.*900C>T) c.1105C>T (p.Leu369=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209788434G>C | CA344572539 | IRF6 | c.1390C>G (p.Leu464Val) c.*817C>G (n.*817C>G) c.*900C>G (n.*900C>G) c.1105C>G (p.Leu369Val) | gnomAD v4 |
| 1 | g.209788434G= | CA2484364764 | IRF6 | c.1390C= (p.Leu464=) c.*817C= (n.*817C=) c.*900C= (n.*900C=) c.1105C= (p.Leu369=) | |
| 1 | g.209788434G>T | CA344572540 | IRF6 | c.1390C>A (p.Leu464Met) c.*817C>A (n.*817C>A) c.*900C>A (n.*900C>A) c.1105C>A (p.Leu369Met) | |
| 1 | g.209788436del | CA2650334043 | IRF6 | c.1390del (p.Leu464CysfsTer?) c.*817del (n.*817del) c.1390del (p.Leu464CysfsTer27) c.*900del (n.*900del) c.1105del (p.Leu369CysfsTer27) | gnomAD v4 |
| 1 | g.209788435G>A | CA423024574 | IRF6 | c.1389C>T (p.Ala463=) c.*816C>T (n.*816C>T) c.*899C>T (n.*899C>T) c.1104C>T (p.Ala368=) | |
| 1 | g.209788435G>C | CA423024577 | IRF6 | c.1389C>G (p.Ala463=) c.*816C>G (n.*816C>G) c.*899C>G (n.*899C>G) c.1104C>G (p.Ala368=) | |
| 1 | g.209788435G>T | CA423024580 | IRF6 | c.1389C>A (p.Ala463=) c.*816C>A (n.*816C>A) c.*899C>A (n.*899C>A) c.1104C>A (p.Ala368=) | gnomAD v4 |
| 1 | g.209788435_209788436insAA | CA2520656444 | IRF6 | c.1388_1389insTT (p.Leu464SerfsTer?) c.*815_*816insTT (n.*815_*816insTT) c.1388_1389insTT (p.Leu464SerfsTer28) c.*898_*899insTT (n.*898_*899insTT) c.1103_1104insTT (p.Leu369SerfsTer28) | |
| 1 | g.209788436G>A | CA10609684 | IRF6 | c.1388C>T (p.Ala463Val) c.*815C>T (n.*815C>T) c.*898C>T (n.*898C>T) c.1103C>T (p.Ala368Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209788436G>C | CA344572543 | IRF6 | c.1388C>G (p.Ala463Gly) c.*815C>G (n.*815C>G) c.*898C>G (n.*898C>G) c.1103C>G (p.Ala368Gly) | |
| 1 | g.209788436G= | CA2484364765 | IRF6 | c.1388C= (p.Ala463=) c.*815C= (n.*815C=) c.*898C= (n.*898C=) c.1103C= (p.Ala368=) | |
| 1 | g.209788436G>T | CA344572545 | IRF6 | c.1388C>A (p.Ala463Asp) c.*815C>A (n.*815C>A) c.*898C>A (n.*898C>A) c.1103C>A (p.Ala368Asp) | gnomAD v4 |
| 1 | g.209788437C>A | CA344572551 | IRF6 | c.1387G>T (p.Ala463Ser) c.*814G>T (n.*814G>T) c.*897G>T (n.*897G>T) c.1102G>T (p.Ala368Ser) | |
| 1 | g.209788437C>G | CA344572549 | IRF6 | c.1387G>C (p.Ala463Pro) c.*814G>C (n.*814G>C) c.*897G>C (n.*897G>C) c.1102G>C (p.Ala368Pro) | gnomAD v4 |
| 1 | g.209788437C>T | CA344572547 | IRF6 | c.1387G>A (p.Ala463Thr) c.*814G>A (n.*814G>A) c.*897G>A (n.*897G>A) c.1102G>A (p.Ala368Thr) | |
| 1 | g.209788438del | CA2740090304 | IRF6 | c.1386del (p.Ala463ProfsTer?) c.*813del (n.*813del) c.1386del (p.Ala463ProfsTer28) c.*896del (n.*896del) c.1101del (p.Ala368ProfsTer28) | ClinVar |
| 1 | g.209788438A>C | CA423024599 | IRF6 | c.1386T>G (p.Pro462=) c.*813T>G (n.*813T>G) c.*896T>G (n.*896T>G) c.1101T>G (p.Pro367=) | |
| 1 | g.209788438A>G | CA423024601 | IRF6 | c.1386T>C (p.Pro462=) c.*813T>C (n.*813T>C) c.*896T>C (n.*896T>C) c.1101T>C (p.Pro367=) | |
| 1 | g.209788438A>T | CA423024603 | IRF6 | c.1386T>A (p.Pro462=) c.*813T>A (n.*813T>A) c.*896T>A (n.*896T>A) c.1101T>A (p.Pro367=) | |
| 1 | g.209788439G>A | CA344572553 | IRF6 | c.1385C>T (p.Pro462Leu) c.*812C>T (n.*812C>T) c.*895C>T (n.*895C>T) c.1100C>T (p.Pro367Leu) | gnomAD v4 |
| 1 | g.209788439G>C | CA344572555 | IRF6 | c.1385C>G (p.Pro462Arg) c.*812C>G (n.*812C>G) c.*895C>G (n.*895C>G) c.1100C>G (p.Pro367Arg) | |
| 1 | g.209788439G>T | CA344572557 | IRF6 | c.1385C>A (p.Pro462His) c.*812C>A (n.*812C>A) c.*895C>A (n.*895C>A) c.1100C>A (p.Pro367His) | gnomAD v4 |
| 1 | g.209788443dup | CA2586968016 | IRF6 | c.1385dup (p.Ala463CysfsTer13) c.*812dup (n.*812dup) c.1385dup (p.Ala463CysfsTer?) c.*895dup (n.*895dup) c.1100dup (p.Ala368CysfsTer?) | |
| 1 | g.209788443del | CA645526280 | IRF6 | c.1385del (p.Pro462LeufsTer?) c.*812del (n.*812del) c.1385del (p.Pro462LeufsTer29) c.*895del (n.*895del) c.1100del (p.Pro367LeufsTer29) | gnomAD v4 COSMIC |
| 1 | g.209788440G>A | CA344572559 | IRF6 | c.1384C>T (p.Pro462Ser) c.*811C>T (n.*811C>T) c.*894C>T (n.*894C>T) c.1099C>T (p.Pro367Ser) | |
| 1 | g.209788440G>C | CA344572565 | IRF6 | c.1384C>G (p.Pro462Ala) c.*811C>G (n.*811C>G) c.*894C>G (n.*894C>G) c.1099C>G (p.Pro367Ala) | |
| 1 | g.209788440G>T | CA344572567 | IRF6 | c.1384C>A (p.Pro462Thr) c.*811C>A (n.*811C>A) c.*894C>A (n.*894C>A) c.1099C>A (p.Pro367Thr) | |
| 1 | g.209788441G>A | CA423024624 | IRF6 | c.1383C>T (p.Pro461=) c.*810C>T (n.*810C>T) c.*893C>T (n.*893C>T) c.1098C>T (p.Pro366=) | |
| 1 | g.209788441G>C | CA423024625 | IRF6 | c.1383C>G (p.Pro461=) c.*810C>G (n.*810C>G) c.*893C>G (n.*893C>G) c.1098C>G (p.Pro366=) | |
| 1 | g.209788441G>T | CA423024631 | IRF6 | c.1383C>A (p.Pro461=) c.*810C>A (n.*810C>A) c.*893C>A (n.*893C>A) c.1098C>A (p.Pro366=) | |
| 1 | g.209788442G>A | CA344572570 | IRF6 | c.1382C>T (p.Pro461Leu) c.*809C>T (n.*809C>T) c.*892C>T (n.*892C>T) c.1097C>T (p.Pro366Leu) | COSMIC |
| 1 | g.209788442G>C | CA344572573 | IRF6 | c.1382C>G (p.Pro461Arg) c.*809C>G (n.*809C>G) c.*892C>G (n.*892C>G) c.1097C>G (p.Pro366Arg) | |
| 1 | g.209788442G>T | CA344572572 | IRF6 | c.1382C>A (p.Pro461His) c.*809C>A (n.*809C>A) c.*892C>A (n.*892C>A) c.1097C>A (p.Pro366His) | |
| 1 | g.209788443G>A | CA344572575 | IRF6 | c.1381C>T (p.Pro461Ser) c.*808C>T (n.*808C>T) c.*891C>T (n.*891C>T) c.1096C>T (p.Pro366Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209788443G>C | CA344572577 | IRF6 | c.1381C>G (p.Pro461Ala) c.*808C>G (n.*808C>G) c.*891C>G (n.*891C>G) c.1096C>G (p.Pro366Ala) | |
| 1 | g.209788443G= | CA2484364766 | IRF6 | c.1381C= (p.Pro461=) c.*808C= (n.*808C=) c.*891C= (n.*891C=) c.1096C= (p.Pro366=) | |
| 1 | g.209788443G>T | CA344572578 | IRF6 | c.1381C>A (p.Pro461Thr) c.*808C>A (n.*808C>A) c.*891C>A (n.*891C>A) c.1096C>A (p.Pro366Thr) | gnomAD v4 |
| 1 | g.209788444C>A | CA423024654 | IRF6 | c.1380G>T (p.Leu460=) c.*807G>T (n.*807G>T) c.*890G>T (n.*890G>T) c.1095G>T (p.Leu365=) | dbSNP |
| 1 | g.209788444C= | CA2484364767 | IRF6 | c.1380G= (p.Leu460=) c.*807G= (n.*807G=) c.*890G= (n.*890G=) c.1095G= (p.Leu365=) | |
| 1 | g.209788444C>G | CA423024657 | IRF6 | c.1380G>C (p.Leu460=) c.*807G>C (n.*807G>C) c.*890G>C (n.*890G>C) c.1095G>C (p.Leu365=) | |
| 1 | g.209788444C>T | CA423024661 | IRF6 | c.1380G>A (p.Leu460=) c.*807G>A (n.*807G>A) c.*890G>A (n.*890G>A) c.1095G>A (p.Leu365=) | |
| 1 | g.209788445A>C | CA344572580 | IRF6 | c.1379T>G (p.Leu460Arg) c.*806T>G (n.*806T>G) c.*889T>G (n.*889T>G) c.1094T>G (p.Leu365Arg) | |
| 1 | g.209788445A>G | CA344572581 | IRF6 | c.1379T>C (p.Leu460Pro) c.*806T>C (n.*806T>C) c.*889T>C (n.*889T>C) c.1094T>C (p.Leu365Pro) | |
| 1 | g.209788445A>T | CA344572583 | IRF6 | c.1379T>A (p.Leu460Gln) c.*806T>A (n.*806T>A) c.*889T>A (n.*889T>A) c.1094T>A (p.Leu365Gln) | |
| 1 | g.209788446G>A | CA423024676 | IRF6 | c.1378C>T (p.Leu460=) c.*805C>T (n.*805C>T) c.*888C>T (n.*888C>T) c.1093C>T (p.Leu365=) | |
| 1 | g.209788446G>C | CA344572585 | IRF6 | c.1378C>G (p.Leu460Val) c.*805C>G (n.*805C>G) c.*888C>G (n.*888C>G) c.1093C>G (p.Leu365Val) | |
| 1 | g.209788446G= | CA2484364768 | IRF6 | c.1378C= (p.Leu460=) c.*805C= (n.*805C=) c.*888C= (n.*888C=) c.1093C= (p.Leu365=) | |
| 1 | g.209788446G>T | CA344572587 | IRF6 | c.1378C>A (p.Leu460Met) c.*805C>A (n.*805C>A) c.*888C>A (n.*888C>A) c.1093C>A (p.Leu365Met) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209788447T>A | CA344572589 | IRF6 | c.1377A>T (p.Gln459His) c.*804A>T (n.*804A>T) c.*887A>T (n.*887A>T) c.1092A>T (p.Gln364His) | |
| 1 | g.209788447T>C | CA423024687 | IRF6 | c.1377A>G (p.Gln459=) c.*804A>G (n.*804A>G) c.*887A>G (n.*887A>G) c.1092A>G (p.Gln364=) | |
| 1 | g.209788447T>G | CA344572591 | IRF6 | c.1377A>C (p.Gln459His) c.*804A>C (n.*804A>C) c.*887A>C (n.*887A>C) c.1092A>C (p.Gln364His) | |
| 1 | g.209788448T>A | CA344572594 | IRF6 | c.1376A>T (p.Gln459Leu) c.*803A>T (n.*803A>T) c.*886A>T (n.*886A>T) c.1091A>T (p.Gln364Leu) | |
| 1 | g.209788448T>C | CA344572593 | IRF6 | c.1376A>G (p.Gln459Arg) c.*803A>G (n.*803A>G) c.*886A>G (n.*886A>G) c.1091A>G (p.Gln364Arg) | |
| 1 | g.209788448T>G | CA344572592 | IRF6 | c.1376A>C (p.Gln459Pro) c.*803A>C (n.*803A>C) c.*886A>C (n.*886A>C) c.1091A>C (p.Gln364Pro) | |
| 1 | g.209788449G>A | CA344572595 | IRF6 | c.1375C>T (p.Gln459Ter) c.*802C>T (n.*802C>T) c.*885C>T (n.*885C>T) c.1090C>T (p.Gln364Ter) | |
| 1 | g.209788449G>C | CA1377136 | IRF6 | c.1375C>G (p.Gln459Glu) c.*802C>G (n.*802C>G) c.*885C>G (n.*885C>G) c.1090C>G (p.Gln364Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209788449G= | CA1148274545 | IRF6 | c.1375C= (p.Gln459=) c.*802C= (n.*802C=) c.*885C= (n.*885C=) c.1090C= (p.Gln364=) | |
| 1 | g.209788449G>T | CA344572597 | IRF6 | c.1375C>A (p.Gln459Lys) c.*802C>A (n.*802C>A) c.*885C>A (n.*885C>A) c.1090C>A (p.Gln364Lys) | dbSNP |
| 1 | g.209788450C>A | CA344572600 | IRF6 | c.1374G>T (p.Met458Ile) c.*801G>T (n.*801G>T) c.*884G>T (n.*884G>T) c.1089G>T (p.Met363Ile) | |
| 1 | g.209788450C>G | CA344572602 | IRF6 | c.1374G>C (p.Met458Ile) c.*801G>C (n.*801G>C) c.*884G>C (n.*884G>C) c.1089G>C (p.Met363Ile) | |
| 1 | g.209788450C>T | CA344572605 | IRF6 | c.1374G>A (p.Met458Ile) c.*801G>A (n.*801G>A) c.*884G>A (n.*884G>A) c.1089G>A (p.Met363Ile) | |
| 1 | g.209788451A>C | CA344572608 | IRF6 | c.1373T>G (p.Met458Arg) c.*800T>G (n.*800T>G) c.*883T>G (n.*883T>G) c.1088T>G (p.Met363Arg) | |
| 1 | g.209788451A>G | CA344572609 | IRF6 | c.1373T>C (p.Met458Thr) c.*800T>C (n.*800T>C) c.*883T>C (n.*883T>C) c.1088T>C (p.Met363Thr) | |
| 1 | g.209788451A>T | CA344572611 | IRF6 | c.1373T>A (p.Met458Lys) c.*800T>A (n.*800T>A) c.*883T>A (n.*883T>A) c.1088T>A (p.Met363Lys) | |
| 1 | g.209788452T>A | CA344572618 | IRF6 | c.1372A>T (p.Met458Leu) c.*799A>T (n.*799A>T) c.*882A>T (n.*882A>T) c.1087A>T (p.Met363Leu) | |
| 1 | g.209788452T>C | CA344572613 | IRF6 | c.1372A>G (p.Met458Val) c.*799A>G (n.*799A>G) c.*882A>G (n.*882A>G) c.1087A>G (p.Met363Val) | gnomAD v4 |
| 1 | g.209788452T>G | CA344572616 | IRF6 | c.1372A>C (p.Met458Leu) c.*799A>C (n.*799A>C) c.*882A>C (n.*882A>C) c.1087A>C (p.Met363Leu) | gnomAD v4 |
| 1 | g.209788452dup | CA2586968017 | IRF6 | c.1372dup (p.Met458AsnfsTer18) c.*799dup (n.*799dup) c.1372dup (p.Met458AsnfsTer?) c.*882dup (n.*882dup) c.1087dup (p.Met363AsnfsTer?) | |
| 1 | g.209788453G>A | CA423024748 | IRF6 | c.1371C>T (p.Ser457=) c.*798C>T (n.*798C>T) c.*881C>T (n.*881C>T) c.1086C>T (p.Ser362=) | gnomAD v4 |
| 1 | g.209788453G>C | CA344572620 | IRF6 | c.1371C>G (p.Ser457Arg) c.*798C>G (n.*798C>G) c.*881C>G (n.*881C>G) c.1086C>G (p.Ser362Arg) | |
| 1 | g.209788453G>T | CA344572624 | IRF6 | c.1371C>A (p.Ser457Arg) c.*798C>A (n.*798C>A) c.*881C>A (n.*881C>A) c.1086C>A (p.Ser362Arg) | |
| 1 | g.209788454C>A | CA344572629 | IRF6 | c.1370G>T (p.Ser457Ile) c.*797G>T (n.*797G>T) c.*880G>T (n.*880G>T) c.1085G>T (p.Ser362Ile) | |
| 1 | g.209788454C>G | CA344572631 | IRF6 | c.1370G>C (p.Ser457Thr) c.*797G>C (n.*797G>C) c.*880G>C (n.*880G>C) c.1085G>C (p.Ser362Thr) | |
| 1 | g.209788454C>T | CA344572632 | IRF6 | c.1370G>A (p.Ser457Asn) c.*797G>A (n.*797G>A) c.*880G>A (n.*880G>A) c.1085G>A (p.Ser362Asn) | |
| 1 | g.209788454_209788455insATGGGCTGCA | CA2586968018 | IRF6 | c.1369_1370insTGCAGCCCAT (p.Ser457MetfsTer22) c.*796_*797insTGCAGCCCAT (n.*796_*797insTGCAGCCCAT) c.1369_1370insTGCAGCCCAT (p.Ser457MetfsTer?) c.*879_*880insTGCAGCCCAT (n.*879_*880insTGCAGCCCAT) c.1084_1085insTGCAGCCCAT (p.Ser362MetfsTer?) | |
| 1 | g.209788455T>A | CA344572638 | IRF6 | c.1369A>T (p.Ser457Cys) c.*796A>T (n.*796A>T) c.*879A>T (n.*879A>T) c.1084A>T (p.Ser362Cys) | |
| 1 | g.209788455T>C | CA344572635 | IRF6 | c.1369A>G (p.Ser457Gly) c.*796A>G (n.*796A>G) c.*879A>G (n.*879A>G) c.1084A>G (p.Ser362Gly) | |
| 1 | g.209788455T>G | CA344572637 | IRF6 | c.1369A>C (p.Ser457Arg) c.*796A>C (n.*796A>C) c.*879A>C (n.*879A>C) c.1084A>C (p.Ser362Arg) | gnomAD v4 |
| 1 | g.209788455_209788456delinsTG | CA2484364769 | IRF6 | c.1368_1369delinsCA (p.Pro456=) c.*795_*796delinsCA (n.*795_*796delinsCA) c.*878_*879delinsCA (n.*878_*879delinsCA) c.1083_1084delinsCA (p.Pro361=) | |
| 1 | g.209788456G>A | CA423024788 | IRF6 | c.1368C>T (p.Pro456=) c.*795C>T (n.*795C>T) c.*878C>T (n.*878C>T) c.1083C>T (p.Pro361=) | |
| 1 | g.209788456G>C | CA423024792 | IRF6 | c.1368C>G (p.Pro456=) c.*795C>G (n.*795C>G) c.*878C>G (n.*878C>G) c.1083C>G (p.Pro361=) | |
| 1 | g.209788456G>T | CA423024800 | IRF6 | c.1368C>A (p.Pro456=) c.*795C>A (n.*795C>A) c.*878C>A (n.*878C>A) c.1083C>A (p.Pro361=) | |
| 1 | g.209788460dup | CA2586968020 | IRF6 | c.1368dup (p.Ser457GlnfsTer19) c.*795dup (n.*795dup) c.1368dup (p.Ser457GlnfsTer?) c.*878dup (n.*878dup) c.1083dup (p.Ser362GlnfsTer?) | |
| 1 | g.209788460del | CA658795587 | IRF6 | c.1368del (p.Ser457AlafsTer?) c.*795del (n.*795del) c.*878del (n.*878del) c.1083del (p.Ser362AlafsTer?) | ClinVar dbSNP gnomAD v4 |
| 1 | g.209788456_209788467del | CA2586968019 | IRF6 | c.1357_1368del (p.Gln453_Pro456del) c.*784_*795del (n.*784_*795del) c.*867_*878del (n.*867_*878del) c.1072_1083del (p.Gln358_Pro361del) | |
| 1 | g.209788457G>A | CA344572641 | IRF6 | c.1367C>T (p.Pro456Leu) c.*794C>T (n.*794C>T) c.*877C>T (n.*877C>T) c.1082C>T (p.Pro361Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209788457G>C | CA344572642 | IRF6 | c.1367C>G (p.Pro456Arg) c.*794C>G (n.*794C>G) c.*877C>G (n.*877C>G) c.1082C>G (p.Pro361Arg) | gnomAD v4 |
| 1 | g.209788457G= | CA2484364770 | IRF6 | c.1367C= (p.Pro456=) c.*794C= (n.*794C=) c.*877C= (n.*877C=) c.1082C= (p.Pro361=) | |
| 1 | g.209788457G>T | CA344572644 | IRF6 | c.1367C>A (p.Pro456His) c.*794C>A (n.*794C>A) c.*877C>A (n.*877C>A) c.1082C>A (p.Pro361His) | |
| 1 | g.209788458G>A | CA1377137 | IRF6 | c.1366C>T (p.Pro456Ser) c.*793C>T (n.*793C>T) c.*876C>T (n.*876C>T) c.1081C>T (p.Pro361Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209788458G>C | CA1377138 | IRF6 | c.1366C>G (p.Pro456Ala) c.*793C>G (n.*793C>G) c.*876C>G (n.*876C>G) c.1081C>G (p.Pro361Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209788458G= | CA2484364771 | IRF6 | c.1366C= (p.Pro456=) c.*793C= (n.*793C=) c.*876C= (n.*876C=) c.1081C= (p.Pro361=) | |
| 1 | g.209788458G>T | CA344572651 | IRF6 | c.1366C>A (p.Pro456Thr) c.*793C>A (n.*793C>A) c.*876C>A (n.*876C>A) c.1081C>A (p.Pro361Thr) | |
| 1 | g.209788459G>A | CA423024824 | IRF6 | c.1365C>T (p.Thr455=) c.*792C>T (n.*792C>T) c.*875C>T (n.*875C>T) c.1080C>T (p.Thr360=) | gnomAD v4 |
| 1 | g.209788459G>C | CA423024827 | IRF6 | c.1365C>G (p.Thr455=) c.*792C>G (n.*792C>G) c.*875C>G (n.*875C>G) c.1080C>G (p.Thr360=) | |
| 1 | g.209788459G= | CA2484364772 | IRF6 | c.1365C= (p.Thr455=) c.*792C= (n.*792C=) c.*875C= (n.*875C=) c.1080C= (p.Thr360=) | |
| 1 | g.209788459G>T | CA423024828 | IRF6 | c.1365C>A (p.Thr455=) c.*792C>A (n.*792C>A) c.*875C>A (n.*875C>A) c.1080C>A (p.Thr360=) | dbSNP gnomAD v2 |
| 1 | g.209788460G>A | CA344572653 | IRF6 | c.1364C>T (p.Thr455Ile) c.*791C>T (n.*791C>T) c.*874C>T (n.*874C>T) c.1079C>T (p.Thr360Ile) | |
| 1 | g.209788460G>C | CA344572655 | IRF6 | c.1364C>G (p.Thr455Ser) c.*791C>G (n.*791C>G) c.*874C>G (n.*874C>G) c.1079C>G (p.Thr360Ser) | gnomAD v4 |
| 1 | g.209788460G>T | CA344572657 | IRF6 | c.1364C>A (p.Thr455Asn) c.*791C>A (n.*791C>A) c.*874C>A (n.*874C>A) c.1079C>A (p.Thr360Asn) | |
| 1 | g.209788460_209788468dup | CA2650334072 | IRF6 | c.1356_1364dup (p.Thr455_Pro456insGlnProThr) c.*783_*791dup (n.*783_*791dup) c.*866_*874dup (n.*866_*874dup) c.1071_1079dup (p.Thr360_Pro361insGlnProThr) | gnomAD v4 |
| 1 | g.209788461T>A | CA344572659 | IRF6 | c.1363A>T (p.Thr455Ser) c.*790A>T (n.*790A>T) c.*873A>T (n.*873A>T) c.1078A>T (p.Thr360Ser) | |
| 1 | g.209788461T>C | CA36752311 | IRF6 | c.1363A>G (p.Thr455Ala) c.*790A>G (n.*790A>G) c.*873A>G (n.*873A>G) c.1078A>G (p.Thr360Ala) | dbSNP |
| 1 | g.209788461T>G | CA344572661 | IRF6 | c.1363A>C (p.Thr455Pro) c.*790A>C (n.*790A>C) c.*873A>C (n.*873A>C) c.1078A>C (p.Thr360Pro) | dbSNP |
| 1 | g.209788461T= | CA2484364773 | IRF6 | c.1363A= (p.Thr455=) c.*790A= (n.*790A=) c.*873A= (n.*873A=) c.1078A= (p.Thr360=) | |
| 1 | g.209788462G>A | CA423024845 | IRF6 | c.1362C>T (p.Pro454=) c.*789C>T (n.*789C>T) c.*872C>T (n.*872C>T) c.1077C>T (p.Pro359=) | |
| 1 | g.209788462G>C | CA423024846 | IRF6 | c.1362C>G (p.Pro454=) c.*789C>G (n.*789C>G) c.*872C>G (n.*872C>G) c.1077C>G (p.Pro359=) | |
| 1 | g.209788462G>T | CA423024847 | IRF6 | c.1362C>A (p.Pro454=) c.*789C>A (n.*789C>A) c.*872C>A (n.*872C>A) c.1077C>A (p.Pro359=) | |
| 1 | g.209788464dup | CA2586968021 | IRF6 | c.1362dup (p.Thr455HisfsTer21) c.*789dup (n.*789dup) c.1362dup (p.Thr455HisfsTer?) c.*872dup (n.*872dup) c.1077dup (p.Thr360HisfsTer?) | |
| 1 | g.209788463G>A | CA344572662 | IRF6 | c.1361C>T (p.Pro454Leu) c.*788C>T (n.*788C>T) c.*871C>T (n.*871C>T) c.1076C>T (p.Pro359Leu) | COSMIC |
| 1 | g.209788463G>C | CA344572665 | IRF6 | c.1361C>G (p.Pro454Arg) c.*788C>G (n.*788C>G) c.*871C>G (n.*871C>G) c.1076C>G (p.Pro359Arg) | gnomAD v4 |
| 1 | g.209788463G>T | CA344572663 | IRF6 | c.1361C>A (p.Pro454His) c.*788C>A (n.*788C>A) c.*871C>A (n.*871C>A) c.1076C>A (p.Pro359His) | |
| 1 | g.209788464G>A | CA1377139 | IRF6 | c.1360C>T (p.Pro454Ser) c.*787C>T (n.*787C>T) c.*870C>T (n.*870C>T) c.1075C>T (p.Pro359Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209788464G>C | CA344572668 | IRF6 | c.1360C>G (p.Pro454Ala) c.*787C>G (n.*787C>G) c.*870C>G (n.*870C>G) c.1075C>G (p.Pro359Ala) | |
| 1 | g.209788464G= | CA2484364774 | IRF6 | c.1360C= (p.Pro454=) c.*787C= (n.*787C=) c.*870C= (n.*870C=) c.1075C= (p.Pro359=) | |
| 1 | g.209788464G>T | CA344572670 | IRF6 | c.1360C>A (p.Pro454Thr) c.*787C>A (n.*787C>A) c.*870C>A (n.*870C>A) c.1075C>A (p.Pro359Thr) | gnomAD v4 |
| 1 | g.209788465C>A | CA344572672 | IRF6 | c.1359G>T (p.Gln453His) c.*786G>T (n.*786G>T) c.*869G>T (n.*869G>T) c.1074G>T (p.Gln358His) | |
| 1 | g.209788465C= | CA2484364775 | IRF6 | c.1359G= (p.Gln453=) c.*786G= (n.*786G=) c.*869G= (n.*869G=) c.1074G= (p.Gln358=) | |
| 1 | g.209788465C>G | CA344572674 | IRF6 | c.1359G>C (p.Gln453His) c.*786G>C (n.*786G>C) c.*869G>C (n.*869G>C) c.1074G>C (p.Gln358His) | |
| 1 | g.209788465C>T | CA1377140 | IRF6 | c.1359G>A (p.Gln453=) c.*786G>A (n.*786G>A) c.*869G>A (n.*869G>A) c.1074G>A (p.Gln358=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.209788466T>A | CA344572677 | IRF6 | c.1358A>T (p.Gln453Leu) c.*785A>T (n.*785A>T) c.*868A>T (n.*868A>T) c.1073A>T (p.Gln358Leu) | |
| 1 | g.209788466T>C | CA344572679 | IRF6 | c.1358A>G (p.Gln453Arg) c.*785A>G (n.*785A>G) c.*868A>G (n.*868A>G) c.1073A>G (p.Gln358Arg) | |
| 1 | g.209788466T>G | CA344572681 | IRF6 | c.1358A>C (p.Gln453Pro) c.*785A>C (n.*785A>C) c.*868A>C (n.*868A>C) c.1073A>C (p.Gln358Pro) | dbSNP gnomAD v4 |
| 1 | g.209788466T= | CA2484364776 | IRF6 | c.1358A= (p.Gln453=) c.*785A= (n.*785A=) c.*868A= (n.*868A=) c.1073A= (p.Gln358=) | |
| 1 | g.209788467G>A | CA344572683 | IRF6 | c.1357C>T (p.Gln453Ter) c.*784C>T (n.*784C>T) c.*867C>T (n.*867C>T) c.1072C>T (p.Gln358Ter) | gnomAD v4 |
| 1 | g.209788467G>C | CA344572684 | IRF6 | c.1357C>G (p.Gln453Glu) c.*784C>G (n.*784C>G) c.*867C>G (n.*867C>G) c.1072C>G (p.Gln358Glu) | |
| 1 | g.209788467G>T | CA344572686 | IRF6 | c.1357C>A (p.Gln453Lys) c.*784C>A (n.*784C>A) c.*867C>A (n.*867C>A) c.1072C>A (p.Gln358Lys) | gnomAD v4 |
| 1 | g.209788468C>A | CA344572691 | IRF6 | c.1356G>T (p.Met452Ile) c.*783G>T (n.*783G>T) c.*866G>T (n.*866G>T) c.1071G>T (p.Met357Ile) | COSMIC |
| 1 | g.209788468C= | CA2484364777 | IRF6 | c.1356G= (p.Met452=) c.*783G= (n.*783G=) c.*866G= (n.*866G=) c.1071G= (p.Met357=) | |
| 1 | g.209788468C>G | CA344572688 | IRF6 | c.1356G>C (p.Met452Ile) c.*783G>C (n.*783G>C) c.*866G>C (n.*866G>C) c.1071G>C (p.Met357Ile) | |
| 1 | g.209788468C>T | CA1377141 | IRF6 | c.1356G>A (p.Met452Ile) c.*783G>A (n.*783G>A) c.*866G>A (n.*866G>A) c.1071G>A (p.Met357Ile) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 1 | g.209788469A>C | CA344572693 | IRF6 | c.1355T>G (p.Met452Arg) c.*782T>G (n.*782T>G) c.*865T>G (n.*865T>G) c.1070T>G (p.Met357Arg) | |
| 1 | g.209788469A>G | CA344572695 | IRF6 | c.1355T>C (p.Met452Thr) c.*782T>C (n.*782T>C) c.*865T>C (n.*865T>C) c.1070T>C (p.Met357Thr) | gnomAD v4 |
| 1 | g.209788469A>T | CA344572697 | IRF6 | c.1355T>A (p.Met452Lys) c.*782T>A (n.*782T>A) c.*865T>A (n.*865T>A) c.1070T>A (p.Met357Lys) | |
| 1 | g.209788470T>A | CA344572699 | IRF6 | c.1354A>T (p.Met452Leu) c.*781A>T (n.*781A>T) c.*864A>T (n.*864A>T) c.1069A>T (p.Met357Leu) | |
| 1 | g.209788470T>C | CA344572700 | IRF6 | c.1354A>G (p.Met452Val) c.*781A>G (n.*781A>G) c.*864A>G (n.*864A>G) c.1069A>G (p.Met357Val) | |
| 1 | g.209788470T>G | CA344572702 | IRF6 | c.1354A>C (p.Met452Leu) c.*781A>C (n.*781A>C) c.*864A>C (n.*864A>C) c.1069A>C (p.Met357Leu) | |
| 1 | g.209788471G>A | CA423024901 | IRF6 | c.1353C>T (p.Pro451=) c.*780C>T (n.*780C>T) c.*863C>T (n.*863C>T) c.1068C>T (p.Pro356=) | gnomAD v4 |
| 1 | g.209788471G>C | CA423024903 | IRF6 | c.1353C>G (p.Pro451=) c.*780C>G (n.*780C>G) c.*863C>G (n.*863C>G) c.1068C>G (p.Pro356=) | |
| 1 | g.209788471G>T | CA423024905 | IRF6 | c.1353C>A (p.Pro451=) c.*780C>A (n.*780C>A) c.*863C>A (n.*863C>A) c.1068C>A (p.Pro356=) | |
| 1 | g.209788472G>A | CA344572704 | IRF6 | c.1352C>T (p.Pro451Leu) c.*779C>T (n.*779C>T) c.*862C>T (n.*862C>T) c.1067C>T (p.Pro356Leu) | gnomAD v4 COSMIC |
| 1 | g.209788472G>C | CA344572706 | IRF6 | c.1352C>G (p.Pro451Arg) c.*779C>G (n.*779C>G) c.*862C>G (n.*862C>G) c.1067C>G (p.Pro356Arg) | |
| 1 | g.209788472G>T | CA344572708 | IRF6 | c.1352C>A (p.Pro451His) c.*779C>A (n.*779C>A) c.*862C>A (n.*862C>A) c.1067C>A (p.Pro356His) | |
| 1 | g.209788473G>A | CA344572711 | IRF6 | c.1351C>T (p.Pro451Ser) c.*778C>T (n.*778C>T) c.*861C>T (n.*861C>T) c.1066C>T (p.Pro356Ser) | |
| 1 | g.209788473G>C | CA344572712 | IRF6 | c.1351C>G (p.Pro451Ala) c.*778C>G (n.*778C>G) c.*861C>G (n.*861C>G) c.1066C>G (p.Pro356Ala) | |
| 1 | g.209788473G>T | CA344572714 | IRF6 | c.1351C>A (p.Pro451Thr) c.*778C>A (n.*778C>A) c.*861C>A (n.*861C>A) c.1066C>A (p.Pro356Thr) | |
| 1 | g.209788474C>A | CA1377142 | IRF6 | c.1350G>T (p.Gln450His) c.*777G>T (n.*777G>T) c.*860G>T (n.*860G>T) c.1065G>T (p.Gln355His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209788474C= | CA2484364778 | IRF6 | c.1350G= (p.Gln450=) c.*777G= (n.*777G=) c.*860G= (n.*860G=) c.1065G= (p.Gln355=) | |
| 1 | g.209788474C>G | CA344572717 | IRF6 | c.1350G>C (p.Gln450His) c.*777G>C (n.*777G>C) c.*860G>C (n.*860G>C) c.1065G>C (p.Gln355His) | |
| 1 | g.209788474C>T | CA423024925 | IRF6 | c.1350G>A (p.Gln450=) c.*777G>A (n.*777G>A) c.*860G>A (n.*860G>A) c.1065G>A (p.Gln355=) | COSMIC |
| 1 | g.209788475T>A | CA344572719 | IRF6 | c.1349A>T (p.Gln450Leu) c.*776A>T (n.*776A>T) c.*859A>T (n.*859A>T) c.1064A>T (p.Gln355Leu) | |
| 1 | g.209788475T>C | CA344572723 | IRF6 | c.1349A>G (p.Gln450Arg) c.*776A>G (n.*776A>G) c.*859A>G (n.*859A>G) c.1064A>G (p.Gln355Arg) | |
| 1 | g.209788475T>G | CA344572721 | IRF6 | c.1349A>C (p.Gln450Pro) c.*776A>C (n.*776A>C) c.*859A>C (n.*859A>C) c.1064A>C (p.Gln355Pro) | |
| 1 | g.209788476G>A | CA344572724 | IRF6 | c.1348C>T (p.Gln450Ter) c.*775C>T (n.*775C>T) c.*858C>T (n.*858C>T) c.1063C>T (p.Gln355Ter) | |
| 1 | g.209788476G>C | CA344572726 | IRF6 | c.1348C>G (p.Gln450Glu) c.*775C>G (n.*775C>G) c.*858C>G (n.*858C>G) c.1063C>G (p.Gln355Glu) | |
| 1 | g.209788476G>T | CA344572728 | IRF6 | c.1348C>A (p.Gln450Lys) c.*775C>A (n.*775C>A) c.*858C>A (n.*858C>A) c.1063C>A (p.Gln355Lys) | |
| 1 | g.209788477C>A | CA344572730 | IRF6 | c.1347G>T (p.Trp449Cys) c.*774G>T (n.*774G>T) c.*857G>T (n.*857G>T) c.1062G>T (p.Trp354Cys) | |
| 1 | g.209788477C>G | CA344572731 | IRF6 | c.1347G>C (p.Trp449Cys) c.*774G>C (n.*774G>C) c.*857G>C (n.*857G>C) c.1062G>C (p.Trp354Cys) | |
| 1 | g.209788477C>T | CA344572732 | IRF6 | c.1347G>A (p.Trp449Ter) c.*774G>A (n.*774G>A) c.*857G>A (n.*857G>A) c.1062G>A (p.Trp354Ter) | |
| 1 | g.209788478C>A | CA344572733 | IRF6 | c.1346G>T (p.Trp449Leu) c.*773G>T (n.*773G>T) c.*856G>T (n.*856G>T) c.1061G>T (p.Trp354Leu) | |
| 1 | g.209788478C>G | CA344572735 | IRF6 | c.1346G>C (p.Trp449Ser) c.*773G>C (n.*773G>C) c.*856G>C (n.*856G>C) c.1061G>C (p.Trp354Ser) | |
| 1 | g.209788478C>T | CA344572736 | IRF6 | c.1346G>A (p.Trp449Ter) c.*773G>A (n.*773G>A) c.*856G>A (n.*856G>A) c.1061G>A (p.Trp354Ter) | |
| 1 | g.209788479A>C | CA344572738 | IRF6 | c.1345T>G (p.Trp449Gly) c.*772T>G (n.*772T>G) c.*855T>G (n.*855T>G) c.1060T>G (p.Trp354Gly) | |
| 1 | g.209788479A>G | CA344572739 | IRF6 | c.1345T>C (p.Trp449Arg) c.*772T>C (n.*772T>C) c.*855T>C (n.*855T>C) c.1060T>C (p.Trp354Arg) | gnomAD v4 |
| 1 | g.209788479A>T | CA344572740 | IRF6 | c.1345T>A (p.Trp449Arg) c.*772T>A (n.*772T>A) c.*855T>A (n.*855T>A) c.1060T>A (p.Trp354Arg) | |
| 1 | g.209788480G>A | CA423024962 | IRF6 | c.1344C>T (p.Ser448=) c.*771C>T (n.*771C>T) c.*854C>T (n.*854C>T) c.1059C>T (p.Ser353=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209788480G>C | CA344572742 | IRF6 | c.1344C>G (p.Ser448Arg) c.*771C>G (n.*771C>G) c.*854C>G (n.*854C>G) c.1059C>G (p.Ser353Arg) | |
| 1 | g.209788480G= | CA2484364779 | IRF6 | c.1344C= (p.Ser448=) c.*771C= (n.*771C=) c.*854C= (n.*854C=) c.1059C= (p.Ser353=) | |
| 1 | g.209788480G>T | CA344572744 | IRF6 | c.1344C>A (p.Ser448Arg) c.*771C>A (n.*771C>A) c.*854C>A (n.*854C>A) c.1059C>A (p.Ser353Arg) | |
| 1 | g.209788481C>A | CA344572746 | IRF6 | c.1343G>T (p.Ser448Ile) c.*770G>T (n.*770G>T) c.*853G>T (n.*853G>T) c.1058G>T (p.Ser353Ile) | |
| 1 | g.209788481C>G | CA344572747 | IRF6 | c.1343G>C (p.Ser448Thr) c.*770G>C (n.*770G>C) c.*853G>C (n.*853G>C) c.1058G>C (p.Ser353Thr) | |
| 1 | g.209788481C>T | CA344572749 | IRF6 | c.1343G>A (p.Ser448Asn) c.*770G>A (n.*770G>A) c.*853G>A (n.*853G>A) c.1058G>A (p.Ser353Asn) | |
| 1 | g.209788482T>A | CA344572751 | IRF6 | c.1342A>T (p.Ser448Cys) c.*769A>T (n.*769A>T) c.*852A>T (n.*852A>T) c.1057A>T (p.Ser353Cys) | |
| 1 | g.209788482T>C | CA344572753 | IRF6 | c.1342A>G (p.Ser448Gly) c.*769A>G (n.*769A>G) c.*852A>G (n.*852A>G) c.1057A>G (p.Ser353Gly) | gnomAD v4 |
| 1 | g.209788482T>G | CA344572754 | IRF6 | c.1342A>C (p.Ser448Arg) c.*769A>C (n.*769A>C) c.*852A>C (n.*852A>C) c.1057A>C (p.Ser353Arg) | |
| 1 | g.209788483C>A | CA344572756 | IRF6 | c.1341G>T (p.Glu447Asp) c.*768G>T (n.*768G>T) c.*851G>T (n.*851G>T) c.1056G>T (p.Glu352Asp) | |
| 1 | g.209788483C= | CA2484364780 | IRF6 | c.1341G= (p.Glu447=) c.*768G= (n.*768G=) c.*851G= (n.*851G=) c.1056G= (p.Glu352=) | |
| 1 | g.209788483C>G | CA344572758 | IRF6 | c.1341G>C (p.Glu447Asp) c.*768G>C (n.*768G>C) c.*851G>C (n.*851G>C) c.1056G>C (p.Glu352Asp) | |
| 1 | g.209788483C>T | CA423024987 | IRF6 | c.1341G>A (p.Glu447=) c.*768G>A (n.*768G>A) c.*851G>A (n.*851G>A) c.1056G>A (p.Glu352=) | dbSNP |
| 1 | g.209788484T>A | CA344572760 | IRF6 | c.1340A>T (p.Glu447Val) c.*767A>T (n.*767A>T) c.*850A>T (n.*850A>T) c.1055A>T (p.Glu352Val) | |
| 1 | g.209788484T>C | CA344572762 | IRF6 | c.1340A>G (p.Glu447Gly) c.*767A>G (n.*767A>G) c.*850A>G (n.*850A>G) c.1055A>G (p.Glu352Gly) | |
| 1 | g.209788484T>G | CA344572764 | IRF6 | c.1340A>C (p.Glu447Ala) c.*767A>C (n.*767A>C) c.*850A>C (n.*850A>C) c.1055A>C (p.Glu352Ala) | |
| 1 | g.209788485C>A | CA344572768 | IRF6 | c.1339G>T (p.Glu447Ter) c.*766G>T (n.*766G>T) c.*849G>T (n.*849G>T) c.1054G>T (p.Glu352Ter) | |
| 1 | g.209788485C= | CA2484364781 | IRF6 | c.1339G= (p.Glu447=) c.*766G= (n.*766G=) c.*849G= (n.*849G=) c.1054G= (p.Glu352=) | |
| 1 | g.209788485C>G | CA344572770 | IRF6 | c.1339G>C (p.Glu447Gln) c.*766G>C (n.*766G>C) c.*849G>C (n.*849G>C) c.1054G>C (p.Glu352Gln) | |
| 1 | g.209788485C>T | CA344572766 | IRF6 | c.1339G>A (p.Glu447Lys) c.*766G>A (n.*766G>A) c.*849G>A (n.*849G>A) c.1054G>A (p.Glu352Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209788486C>A | CA344572772 | IRF6 | c.1338G>T (p.Gln446His) c.*765G>T (n.*765G>T) c.*848G>T (n.*848G>T) c.1053G>T (p.Gln351His) | |
| 1 | g.209788486C>G | CA344572774 | IRF6 | c.1338G>C (p.Gln446His) c.*765G>C (n.*765G>C) c.*848G>C (n.*848G>C) c.1053G>C (p.Gln351His) | |
| 1 | g.209788486C>T | CA423025030 | IRF6 | c.1338G>A (p.Gln446=) c.*765G>A (n.*765G>A) c.*848G>A (n.*848G>A) c.1053G>A (p.Gln351=) | |
| 1 | g.209788487T>A | CA344572775 | IRF6 | c.1337A>T (p.Gln446Leu) c.*764A>T (n.*764A>T) c.*847A>T (n.*847A>T) c.1052A>T (p.Gln351Leu) | |
| 1 | g.209788487T>C | CA344572776 | IRF6 | c.1337A>G (p.Gln446Arg) c.*764A>G (n.*764A>G) c.*847A>G (n.*847A>G) c.1052A>G (p.Gln351Arg) | |
| 1 | g.209788487T>G | CA344572778 | IRF6 | c.1337A>C (p.Gln446Pro) c.*764A>C (n.*764A>C) c.*847A>C (n.*847A>C) c.1052A>C (p.Gln351Pro) | |
| 1 | g.209788488G>A | CA344572779 | IRF6 | c.1336C>T (p.Gln446Ter) c.*763C>T (n.*763C>T) c.*846C>T (n.*846C>T) c.1051C>T (p.Gln351Ter) | |
| 1 | g.209788488G>C | CA344572781 | IRF6 | c.1336C>G (p.Gln446Glu) c.*763C>G (n.*763C>G) c.*846C>G (n.*846C>G) c.1051C>G (p.Gln351Glu) | |
| 1 | g.209788488G>T | CA344572783 | IRF6 | c.1336C>A (p.Gln446Lys) c.*763C>A (n.*763C>A) c.*846C>A (n.*846C>A) c.1051C>A (p.Gln351Lys) | |
| 1 | g.209788489G>A | CA36752330 | IRF6 | c.1335C>T (p.Thr445=) c.*762C>T (n.*762C>T) c.*845C>T (n.*845C>T) c.1050C>T (p.Thr350=) | dbSNP |
| 1 | g.209788489G>C | CA423025065 | IRF6 | c.1335C>G (p.Thr445=) c.*762C>G (n.*762C>G) c.*845C>G (n.*845C>G) c.1050C>G (p.Thr350=) | |
| 1 | g.209788489G= | CA2484364782 | IRF6 | c.1335C= (p.Thr445=) c.*762C= (n.*762C=) c.*845C= (n.*845C=) c.1050C= (p.Thr350=) | |
| 1 | g.209788489G>T | CA423025058 | IRF6 | c.1335C>A (p.Thr445=) c.*762C>A (n.*762C>A) c.*845C>A (n.*845C>A) c.1050C>A (p.Thr350=) | |
| 1 | g.209788490G>A | CA344572785 | IRF6 | c.1334C>T (p.Thr445Ile) c.*761C>T (n.*761C>T) c.*844C>T (n.*844C>T) c.1049C>T (p.Thr350Ile) | |
| 1 | g.209788490G>C | CA344572787 | IRF6 | c.1334C>G (p.Thr445Ser) c.*761C>G (n.*761C>G) c.*844C>G (n.*844C>G) c.1049C>G (p.Thr350Ser) | |
| 1 | g.209788490G>T | CA344572789 | IRF6 | c.1334C>A (p.Thr445Asn) c.*761C>A (n.*761C>A) c.*844C>A (n.*844C>A) c.1049C>A (p.Thr350Asn) | |
| 1 | g.209788491T>A | CA344572791 | IRF6 | c.1333A>T (p.Thr445Ser) c.*760A>T (n.*760A>T) c.*843A>T (n.*843A>T) c.1048A>T (p.Thr350Ser) | |
| 1 | g.209788491T>C | CA344572793 | IRF6 | c.1333A>G (p.Thr445Ala) c.*760A>G (n.*760A>G) c.*843A>G (n.*843A>G) c.1048A>G (p.Thr350Ala) | |
| 1 | g.209788491T>G | CA344572795 | IRF6 | c.1333A>C (p.Thr445Pro) c.*760A>C (n.*760A>C) c.*843A>C (n.*843A>C) c.1048A>C (p.Thr350Pro) | |
| 1 | g.209788492T>A | CA344572797 | IRF6 | c.1332A>T (p.Gln444His) c.*759A>T (n.*759A>T) c.*842A>T (n.*842A>T) c.1047A>T (p.Gln349His) | |
| 1 | g.209788492T>C | CA423025104 | IRF6 | c.1332A>G (p.Gln444=) c.*759A>G (n.*759A>G) c.*842A>G (n.*842A>G) c.1047A>G (p.Gln349=) | |
| 1 | g.209788492T>G | CA344572799 | IRF6 | c.1332A>C (p.Gln444His) c.*759A>C (n.*759A>C) c.*842A>C (n.*842A>C) c.1047A>C (p.Gln349His) | |
| 1 | g.209788493T>A | CA344572801 | IRF6 | c.1331A>T (p.Gln444Leu) c.*758A>T (n.*758A>T) c.*841A>T (n.*841A>T) c.1046A>T (p.Gln349Leu) | |
| 1 | g.209788493T>C | CA344572803 | IRF6 | c.1331A>G (p.Gln444Arg) c.*758A>G (n.*758A>G) c.*841A>G (n.*841A>G) c.1046A>G (p.Gln349Arg) | |
| 1 | g.209788493T>G | CA344572804 | IRF6 | c.1331A>C (p.Gln444Pro) c.*758A>C (n.*758A>C) c.*841A>C (n.*841A>C) c.1046A>C (p.Gln349Pro) | |
| 1 | g.209788494G>A | CA344572806 | IRF6 | c.1330C>T (p.Gln444Ter) c.*757C>T (n.*757C>T) c.*840C>T (n.*840C>T) c.1045C>T (p.Gln349Ter) | |
| 1 | g.209788494G>C | CA344572808 | IRF6 | c.1330C>G (p.Gln444Glu) c.*757C>G (n.*757C>G) c.*840C>G (n.*840C>G) c.1045C>G (p.Gln349Glu) | |
| 1 | g.209788494G>T | CA344572810 | IRF6 | c.1330C>A (p.Gln444Lys) c.*757C>A (n.*757C>A) c.*840C>A (n.*840C>A) c.1045C>A (p.Gln349Lys) | |
| 1 | g.209788495A>C | CA423025140 | IRF6 | c.1329T>G (p.Leu443=) c.*756T>G (n.*756T>G) c.*839T>G (n.*839T>G) c.1044T>G (p.Leu348=) | |
| 1 | g.209788495A>G | CA423025146 | IRF6 | c.1329T>C (p.Leu443=) c.*756T>C (n.*756T>C) c.*839T>C (n.*839T>C) c.1044T>C (p.Leu348=) | |
| 1 | g.209788495A>T | CA423025151 | IRF6 | c.1329T>A (p.Leu443=) c.*756T>A (n.*756T>A) c.*839T>A (n.*839T>A) c.1044T>A (p.Leu348=) | |
| 1 | g.209788496A>C | CA344572812 | IRF6 | c.1328T>G (p.Leu443Arg) c.*755T>G (n.*755T>G) c.*838T>G (n.*838T>G) c.1043T>G (p.Leu348Arg) | gnomAD v4 |
| 1 | g.209788496A>G | CA344572813 | IRF6 | c.1328T>C (p.Leu443Pro) c.*755T>C (n.*755T>C) c.*838T>C (n.*838T>C) c.1043T>C (p.Leu348Pro) | |
| 1 | g.209788496A>T | CA344572816 | IRF6 | c.1328T>A (p.Leu443His) c.*755T>A (n.*755T>A) c.*838T>A (n.*838T>A) c.1043T>A (p.Leu348His) | |
| 1 | g.209788497G>A | CA1377143 | IRF6 | c.1327C>T (p.Leu443Phe) c.*754C>T (n.*754C>T) c.*837C>T (n.*837C>T) c.1042C>T (p.Leu348Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209788497G>C | CA344572820 | IRF6 | c.1327C>G (p.Leu443Val) c.*754C>G (n.*754C>G) c.*837C>G (n.*837C>G) c.1042C>G (p.Leu348Val) | |
| 1 | g.209788497G= | CA2484364783 | IRF6 | c.1327C= (p.Leu443=) c.*754C= (n.*754C=) c.*837C= (n.*837C=) c.1042C= (p.Leu348=) | |
| 1 | g.209788497G>T | CA344572822 | IRF6 | c.1327C>A (p.Leu443Ile) c.*754C>A (n.*754C>A) c.*837C>A (n.*837C>A) c.1042C>A (p.Leu348Ile) | |
| 1 | g.209788498del | CA2586968022 | IRF6 | c.1327del (p.Leu443PhefsTer?) c.*754del (n.*754del) c.*837del (n.*837del) c.1042del (p.Leu348PhefsTer?) | |
| 1 | g.209788498G>A | CA423025193 | IRF6 | c.1326C>T (p.Ile442=) c.*753C>T (n.*753C>T) c.*836C>T (n.*836C>T) c.1041C>T (p.Ile347=) | |
| 1 | g.209788498G>C | CA344572824 | IRF6 | c.1326C>G (p.Ile442Met) c.*753C>G (n.*753C>G) c.*836C>G (n.*836C>G) c.1041C>G (p.Ile347Met) | |
| 1 | g.209788498G>T | CA423025202 | IRF6 | c.1326C>A (p.Ile442=) c.*753C>A (n.*753C>A) c.*836C>A (n.*836C>A) c.1041C>A (p.Ile347=) | |
| 1 | g.209788499_209788503dup | CA2586968023 | IRF6 | c.1322_1326dup (p.Leu443AlafsTer?) c.*749_*753dup (n.*749_*753dup) c.*832_*836dup (n.*832_*836dup) c.1037_1041dup (p.Leu348AlafsTer?) | |
| 1 | g.209788499A>C | CA344572827 | IRF6 | c.1325T>G (p.Ile442Ser) c.*752T>G (n.*752T>G) c.*835T>G (n.*835T>G) c.1040T>G (p.Ile347Ser) | |
| 1 | g.209788499A>G | CA344572830 | IRF6 | c.1325T>C (p.Ile442Thr) c.*752T>C (n.*752T>C) c.*835T>C (n.*835T>C) c.1040T>C (p.Ile347Thr) | |
| 1 | g.209788499A>T | CA344572828 | IRF6 | c.1325T>A (p.Ile442Asn) c.*752T>A (n.*752T>A) c.*835T>A (n.*835T>A) c.1040T>A (p.Ile347Asn) | |
| 1 | g.209788499_209788510delinsATGCGGTACAGC | CA2484364784 | IRF6 | c.1314_1325delinsGCTGTACCGCAT (p.Gln438=) c.*741_*752delinsGCTGTACCGCAT (n.*741_*752delinsGCTGTACCGCAT) c.*824_*835delinsGCTGTACCGCAT (n.*824_*835delinsGCTGTACCGCAT) c.1029_1040delinsGCTGTACCGCAT (p.Gln343=) | |
| 1 | g.209788500T>A | CA344572833 | IRF6 | c.1324A>T (p.Ile442Phe) c.*751A>T (n.*751A>T) c.*834A>T (n.*834A>T) c.1039A>T (p.Ile347Phe) | gnomAD v4 |
| 1 | g.209788500T>C | CA344572836 | IRF6 | c.1324A>G (p.Ile442Val) c.*751A>G (n.*751A>G) c.*834A>G (n.*834A>G) c.1039A>G (p.Ile347Val) | |
| 1 | g.209788500T>G | CA344572834 | IRF6 | c.1324A>C (p.Ile442Leu) c.*751A>C (n.*751A>C) c.*834A>C (n.*834A>C) c.1039A>C (p.Ile347Leu) | |
| 1 | g.209788503_209788513del | CA891842997 | IRF6 | c.1314_1324del (p.Gln438HisfsTer?) c.*741_*751del (n.*741_*751del) c.*824_*834del (n.*824_*834del) c.1029_1039del (p.Gln343HisfsTer?) | ClinVar dbSNP |
| 1 | g.209788501G>A | CA423025232 | IRF6 | c.1323C>T (p.Arg441=) c.*750C>T (n.*750C>T) c.*833C>T (n.*833C>T) c.1038C>T (p.Arg346=) | |
| 1 | g.209788501G>C | CA423025235 | IRF6 | c.1323C>G (p.Arg441=) c.*750C>G (n.*750C>G) c.*833C>G (n.*833C>G) c.1038C>G (p.Arg346=) | |
| 1 | g.209788501G>T | CA423025241 | IRF6 | c.1323C>A (p.Arg441=) c.*750C>A (n.*750C>A) c.*833C>A (n.*833C>A) c.1038C>A (p.Arg346=) | |
| 1 | g.209788502C>A | CA1377145 | IRF6 | c.1322G>T (p.Arg441Leu) c.*749G>T (n.*749G>T) c.*832G>T (n.*832G>T) c.1037G>T (p.Arg346Leu) | dbSNP ExAC gnomAD v2 |
| 1 | g.209788502C= | CA2484364785 | IRF6 | c.1322G= (p.Arg441=) c.*749G= (n.*749G=) c.*832G= (n.*832G=) c.1037G= (p.Arg346=) | |
| 1 | g.209788502C>G | CA344572840 | IRF6 | c.1322G>C (p.Arg441Pro) c.*749G>C (n.*749G>C) c.*832G>C (n.*832G>C) c.1037G>C (p.Arg346Pro) | |
| 1 | g.209788502C>T | CA1377144 | IRF6 | c.1322G>A (p.Arg441His) c.*749G>A (n.*749G>A) c.*832G>A (n.*832G>A) c.1037G>A (p.Arg346His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.209788503G>A | CA344572843 | IRF6 | c.1321C>T (p.Arg441Cys) c.*748C>T (n.*748C>T) c.*831C>T (n.*831C>T) c.1036C>T (p.Arg346Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.209788503G>C | CA344572845 | IRF6 | c.1321C>G (p.Arg441Gly) c.*748C>G (n.*748C>G) c.*831C>G (n.*831C>G) c.1036C>G (p.Arg346Gly) | |
| 1 | g.209788503G= | CA2484364786 | IRF6 | c.1321C= (p.Arg441=) c.*748C= (n.*748C=) c.*831C= (n.*831C=) c.1036C= (p.Arg346=) | |
| 1 | g.209788503G>T | CA344572847 | IRF6 | c.1321C>A (p.Arg441Ser) c.*748C>A (n.*748C>A) c.*831C>A (n.*831C>A) c.1036C>A (p.Arg346Ser) | dbSNP gnomAD v4 |
| 1 | g.209788504G>A | CA423025266 | IRF6 | c.1320C>T (p.Tyr440=) c.*747C>T (n.*747C>T) c.*830C>T (n.*830C>T) c.1035C>T (p.Tyr345=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209788504G>C | CA344572851 | IRF6 | c.1320C>G (p.Tyr440Ter) c.*747C>G (n.*747C>G) c.*830C>G (n.*830C>G) c.1035C>G (p.Tyr345Ter) | |
| 1 | g.209788504G= | CA2484364787 | IRF6 | c.1320C= (p.Tyr440=) c.*747C= (n.*747C=) c.*830C= (n.*830C=) c.1035C= (p.Tyr345=) | |
| 1 | g.209788504G>T | CA344572849 | IRF6 | c.1320C>A (p.Tyr440Ter) c.*747C>A (n.*747C>A) c.*830C>A (n.*830C>A) c.1035C>A (p.Tyr345Ter) | |
| 1 | g.209788505T>A | CA344572854 | IRF6 | c.1319A>T (p.Tyr440Phe) c.*746A>T (n.*746A>T) c.*829A>T (n.*829A>T) c.1034A>T (p.Tyr345Phe) | |
| 1 | g.209788505T>C | CA344572855 | IRF6 | c.1319A>G (p.Tyr440Cys) c.*746A>G (n.*746A>G) c.*829A>G (n.*829A>G) c.1034A>G (p.Tyr345Cys) | |
| 1 | g.209788505T>G | CA344572857 | IRF6 | c.1319A>C (p.Tyr440Ser) c.*746A>C (n.*746A>C) c.*829A>C (n.*829A>C) c.1034A>C (p.Tyr345Ser) | |
| 1 | g.209788506A= | CA1143522088 | IRF6 | c.1318T= (p.Tyr440=) c.*745T= (n.*745T=) c.*828T= (n.*828T=) c.1033T= (p.Tyr345=) | |
| 1 | g.209788506A>C | CA344572860 | IRF6 | c.1318T>G (p.Tyr440Asp) c.*745T>G (n.*745T>G) c.*828T>G (n.*828T>G) c.1033T>G (p.Tyr345Asp) | |
| 1 | g.209788506A>G | CA1377146 | IRF6 | c.1318T>C (p.Tyr440His) c.*745T>C (n.*745T>C) c.*828T>C (n.*828T>C) c.1033T>C (p.Tyr345His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209788506A>T | CA344572862 | IRF6 | c.1318T>A (p.Tyr440Asn) c.*745T>A (n.*745T>A) c.*828T>A (n.*828T>A) c.1033T>A (p.Tyr345Asn) | |
| 1 | g.209788507C>A | CA423025294 | IRF6 | c.1317G>T (p.Leu439=) c.*744G>T (n.*744G>T) c.*827G>T (n.*827G>T) c.1032G>T (p.Leu344=) | |
| 1 | g.209788507C= | CA2484364788 | IRF6 | c.1317G= (p.Leu439=) c.*744G= (n.*744G=) c.*827G= (n.*827G=) c.1032G= (p.Leu344=) | |
| 1 | g.209788507C>G | CA423025298 | IRF6 | c.1317G>C (p.Leu439=) c.*744G>C (n.*744G>C) c.*827G>C (n.*827G>C) c.1032G>C (p.Leu344=) | |
| 1 | g.209788507C>T | CA423025291 | IRF6 | c.1317G>A (p.Leu439=) c.*744G>A (n.*744G>A) c.*827G>A (n.*827G>A) c.1032G>A (p.Leu344=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209788508del | CA2586968024 | IRF6 | c.1316del (p.Leu439ArgfsTer?) c.*743del (n.*743del) c.*826del (n.*826del) c.1031del (p.Leu344ArgfsTer?) | |
| 1 | g.209788508A= | CA2484364789 | IRF6 | c.1316T= (p.Leu439=) c.*743T= (n.*743T=) c.*826T= (n.*826T=) c.1031T= (p.Leu344=) | |
| 1 | g.209788508A>C | CA344572867 | IRF6 | c.1316T>G (p.Leu439Arg) c.*743T>G (n.*743T>G) c.*826T>G (n.*826T>G) c.1031T>G (p.Leu344Arg) | |
| 1 | g.209788508A>G | CA10586692 | IRF6 | c.1316T>C (p.Leu439Pro) c.*743T>C (n.*743T>C) c.*826T>C (n.*826T>C) c.1031T>C (p.Leu344Pro) | ClinVar dbSNP |
| 1 | g.209788508A>T | CA344572866 | IRF6 | c.1316T>A (p.Leu439Gln) c.*743T>A (n.*743T>A) c.*826T>A (n.*826T>A) c.1031T>A (p.Leu344Gln) | |
| 1 | g.209788509G>A | CA423025308 | IRF6 | c.1315C>T (p.Leu439=) c.*742C>T (n.*742C>T) c.*825C>T (n.*825C>T) c.1030C>T (p.Leu344=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.209788509G>C | CA344572869 | IRF6 | c.1315C>G (p.Leu439Val) c.*742C>G (n.*742C>G) c.*825C>G (n.*825C>G) c.1030C>G (p.Leu344Val) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209788509G= | CA2484364790 | IRF6 | c.1315C= (p.Leu439=) c.*742C= (n.*742C=) c.*825C= (n.*825C=) c.1030C= (p.Leu344=) | |
| 1 | g.209788509G>T | CA344572871 | IRF6 | c.1315C>A (p.Leu439Met) c.*742C>A (n.*742C>A) c.*825C>A (n.*825C>A) c.1030C>A (p.Leu344Met) | |
| 1 | g.209788510C>A | CA344572874 | IRF6 | c.1314G>T (p.Gln438His) c.*741G>T (n.*741G>T) c.*824G>T (n.*824G>T) c.1029G>T (p.Gln343His) | |
| 1 | g.209788510C>G | CA344572875 | IRF6 | c.1314G>C (p.Gln438His) c.*741G>C (n.*741G>C) c.*824G>C (n.*824G>C) c.1029G>C (p.Gln343His) | |
| 1 | g.209788510C>T | CA423025322 | IRF6 | c.1314G>A (p.Gln438=) c.*741G>A (n.*741G>A) c.*824G>A (n.*824G>A) c.1029G>A (p.Gln343=) | |
| 1 | g.209788511T>A | CA344572878 | IRF6 | c.1313A>T (p.Gln438Leu) c.*740A>T (n.*740A>T) c.*823A>T (n.*823A>T) c.1028A>T (p.Gln343Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209788511T>C | CA344572880 | IRF6 | c.1313A>G (p.Gln438Arg) c.*740A>G (n.*740A>G) c.*823A>G (n.*823A>G) c.1028A>G (p.Gln343Arg) | |
| 1 | g.209788511T>G | CA1377147 | IRF6 | c.1313A>C (p.Gln438Pro) c.*740A>C (n.*740A>C) c.*823A>C (n.*823A>C) c.1028A>C (p.Gln343Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209788511T= | CA2484364791 | IRF6 | c.1313A= (p.Gln438=) c.*740A= (n.*740A=) c.*823A= (n.*823A=) c.1028A= (p.Gln343=) | |
| 1 | g.209788512G>A | CA16617046 | IRF6 | c.1312C>T (p.Gln438Ter) c.*739C>T (n.*739C>T) c.*822C>T (n.*822C>T) c.1027C>T (p.Gln343Ter) | ClinVar dbSNP |
| 1 | g.209788512G>C | CA344572884 | IRF6 | c.1312C>G (p.Gln438Glu) c.*739C>G (n.*739C>G) c.*822C>G (n.*822C>G) c.1027C>G (p.Gln343Glu) | |
| 1 | g.209788512G= | CA2484364792 | IRF6 | c.1312C= (p.Gln438=) c.*739C= (n.*739C=) c.*822C= (n.*822C=) c.1027C= (p.Gln343=) | |
| 1 | g.209788512G>T | CA344572885 | IRF6 | c.1312C>A (p.Gln438Lys) c.*739C>A (n.*739C>A) c.*822C>A (n.*822C>A) c.1027C>A (p.Gln343Lys) | gnomAD v4 |
| 1 | g.209788513C>A | CA344572888 | IRF6 | c.1311G>T (p.Lys437Asn) c.*738G>T (n.*738G>T) c.*821G>T (n.*821G>T) c.1026G>T (p.Lys342Asn) | |
| 1 | g.209788513C= | CA1141282162 | IRF6 | c.1311G= (p.Lys437=) c.*738G= (n.*738G=) c.*821G= (n.*821G=) c.1026G= (p.Lys342=) | |
| 1 | g.209788513C>G | CA344572890 | IRF6 | c.1311G>C (p.Lys437Asn) c.*738G>C (n.*738G>C) c.*821G>C (n.*821G>C) c.1026G>C (p.Lys342Asn) | |
| 1 | g.209788513C>T | CA1377148 | IRF6 | c.1311G>A (p.Lys437=) c.*738G>A (n.*738G>A) c.*821G>A (n.*821G>A) c.1026G>A (p.Lys342=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209788514T>A | CA344572892 | IRF6 | c.1310A>T (p.Lys437Met) c.*737A>T (n.*737A>T) c.*820A>T (n.*820A>T) c.1025A>T (p.Lys342Met) | |
| 1 | g.209788514T>C | CA344572896 | IRF6 | c.1310A>G (p.Lys437Arg) c.*737A>G (n.*737A>G) c.*820A>G (n.*820A>G) c.1025A>G (p.Lys342Arg) | |
| 1 | g.209788514T>G | CA344572894 | IRF6 | c.1310A>C (p.Lys437Thr) c.*737A>C (n.*737A>C) c.*820A>C (n.*820A>C) c.1025A>C (p.Lys342Thr) | |
| 1 | g.209788515T>A | CA344572898 | IRF6 | c.1309A>T (p.Lys437Ter) c.*736A>T (n.*736A>T) c.*819A>T (n.*819A>T) c.1024A>T (p.Lys342Ter) | |
| 1 | g.209788515T>C | CA344572899 | IRF6 | c.1309A>G (p.Lys437Glu) c.*736A>G (n.*736A>G) c.*819A>G (n.*819A>G) c.1024A>G (p.Lys342Glu) | |
| 1 | g.209788515T>G | CA344572901 | IRF6 | c.1309A>C (p.Lys437Gln) c.*736A>C (n.*736A>C) c.*819A>C (n.*819A>C) c.1024A>C (p.Lys342Gln) | |
| 1 | g.209788516C>A | CA423025392 | IRF6 | c.1308G>T (p.Leu436=) c.*735G>T (n.*735G>T) c.*818G>T (n.*818G>T) c.1023G>T (p.Leu341=) | |
| 1 | g.209788516C>G | CA423025395 | IRF6 | c.1308G>C (p.Leu436=) c.*735G>C (n.*735G>C) c.*818G>C (n.*818G>C) c.1023G>C (p.Leu341=) | |
| 1 | g.209788516C>T | CA423025399 | IRF6 | c.1308G>A (p.Leu436=) c.*735G>A (n.*735G>A) c.*818G>A (n.*818G>A) c.1023G>A (p.Leu341=) | |
| 1 | g.209788517A>C | CA344572902 | IRF6 | c.1307T>G (p.Leu436Arg) c.*734T>G (n.*734T>G) c.*817T>G (n.*817T>G) c.1022T>G (p.Leu341Arg) | |
| 1 | g.209788517A>G | CA344572903 | IRF6 | c.1307T>C (p.Leu436Pro) c.*734T>C (n.*734T>C) c.*817T>C (n.*817T>C) c.1022T>C (p.Leu341Pro) | |
| 1 | g.209788517A>T | CA344572904 | IRF6 | c.1307T>A (p.Leu436Gln) c.*734T>A (n.*734T>A) c.*817T>A (n.*817T>A) c.1022T>A (p.Leu341Gln) | |
| 1 | g.209788520_209788524del | CA2586968025 | IRF6 | c.1303_1307del (p.Gln435GlufsTer?) c.*730_*734del (n.*730_*734del) c.*813_*817del (n.*813_*817del) c.1018_1022del (p.Gln340GlufsTer?) | |
| 1 | g.209788518G>A | CA423025413 | IRF6 | c.1306C>T (p.Leu436=) c.*733C>T (n.*733C>T) c.*816C>T (n.*816C>T) c.1021C>T (p.Leu341=) | |
| 1 | g.209788518G>C | CA344572905 | IRF6 | c.1306C>G (p.Leu436Val) c.*733C>G (n.*733C>G) c.*816C>G (n.*816C>G) c.1021C>G (p.Leu341Val) | dbSNP |
| 1 | g.209788518G= | CA2484364793 | IRF6 | c.1306C= (p.Leu436=) c.*733C= (n.*733C=) c.*816C= (n.*816C=) c.1021C= (p.Leu341=) | |
| 1 | g.209788518G>T | CA344572906 | IRF6 | c.1306C>A (p.Leu436Met) c.*733C>A (n.*733C>A) c.*816C>A (n.*816C>A) c.1021C>A (p.Leu341Met) |