Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.209795355T>A | CA344582556 | IRF6 | c.443A>T (p.Asp148Val) c.158A>T (p.Asp53Val) | |
1 | g.209795355T>C | CA344582558 | IRF6 | c.443A>G (p.Asp148Gly) c.158A>G (p.Asp53Gly) | ClinVar dbSNP |
1 | g.209795355T>G | CA344582557 | IRF6 | c.443A>C (p.Asp148Ala) c.158A>C (p.Asp53Ala) | |
1 | g.209795355T= | CA2484367237 | IRF6 | c.443A= (p.Asp148=) c.158A= (p.Asp53=) | |
1 | g.209795356C>A | CA344582559 | IRF6 | c.442G>T (p.Asp148Tyr) c.157G>T (p.Asp53Tyr) | |
1 | g.209795356C>G | CA344582560 | IRF6 | c.442G>C (p.Asp148His) c.157G>C (p.Asp53His) | |
1 | g.209795356C>T | CA344582561 | IRF6 | c.442G>A (p.Asp148Asn) c.157G>A (p.Asp53Asn) | |
1 | g.209795358_209795361del | CA2586968072 | IRF6 | c.439_442del (p.Glu147MetfsTer19) c.154_157del (p.Glu52MetfsTer19) | |
1 | g.209795357T>A | CA344582562 | IRF6 | c.441A>T (p.Glu147Asp) c.156A>T (p.Glu52Asp) | |
1 | g.209795357T>C | CA36754493 | IRF6 | c.441A>G (p.Glu147=) c.156A>G (p.Glu52=) | dbSNP |
1 | g.209795357T>G | CA344582563 | IRF6 | c.441A>C (p.Glu147Asp) c.156A>C (p.Glu52Asp) | |
1 | g.209795357T= | CA2484367238 | IRF6 | c.441A= (p.Glu147=) c.156A= (p.Glu52=) | |
1 | g.209795358T>A | CA344582564 | IRF6 | c.440A>T (p.Glu147Val) c.155A>T (p.Glu52Val) | |
1 | g.209795358T>C | CA344582565 | IRF6 | c.440A>G (p.Glu147Gly) c.155A>G (p.Glu52Gly) | COSMIC |
1 | g.209795358T>G | CA344582566 | IRF6 | c.440A>C (p.Glu147Ala) c.155A>C (p.Glu52Ala) | |
1 | g.209795359C>A | CA344582567 | IRF6 | c.439G>T (p.Glu147Ter) c.154G>T (p.Glu52Ter) | |
1 | g.209795359C>G | CA344582568 | IRF6 | c.439G>C (p.Glu147Gln) c.154G>C (p.Glu52Gln) | |
1 | g.209795359C>T | CA344582569 | IRF6 | c.439G>A (p.Glu147Lys) c.154G>A (p.Glu52Lys) | COSMIC |
1 | g.209795360del | CA2499214419 | IRF6 | c.439del (p.Glu147LysfsTer20) c.154del (p.Glu52LysfsTer20) | ClinVar dbSNP |
1 | g.209795360C>A | CA344582570 | IRF6 | c.438G>T (p.Glu146Asp) c.153G>T (p.Glu51Asp) | |
1 | g.209795360C>G | CA344582571 | IRF6 | c.438G>C (p.Glu146Asp) c.153G>C (p.Glu51Asp) | |
1 | g.209795360C>T | CA423030022 | IRF6 | c.438G>A (p.Glu146=) c.153G>A (p.Glu51=) | gnomAD v4 |
1 | g.209795361T>A | CA344582572 | IRF6 | c.437A>T (p.Glu146Val) c.152A>T (p.Glu51Val) | |
1 | g.209795361T>C | CA344582574 | IRF6 | c.437A>G (p.Glu146Gly) c.152A>G (p.Glu51Gly) | |
1 | g.209795361T>G | CA344582573 | IRF6 | c.437A>C (p.Glu146Ala) c.152A>C (p.Glu51Ala) | |
1 | g.209795362C>A | CA344582575 | IRF6 | c.436G>T (p.Glu146Ter) c.151G>T (p.Glu51Ter) | |
1 | g.209795362C= | CA2484367239 | IRF6 | c.436G= (p.Glu146=) c.151G= (p.Glu51=) | |
1 | g.209795362C>G | CA344582576 | IRF6 | c.436G>C (p.Glu146Gln) c.151G>C (p.Glu51Gln) | |
1 | g.209795362C>T | CA344582577 | IRF6 | c.436G>A (p.Glu146Lys) c.151G>A (p.Glu51Lys) | dbSNP gnomAD v4 |
1 | g.209795363A= | CA2484367240 | IRF6 | c.435T= (p.Asp145=) c.150T= (p.Asp50=) | |
1 | g.209795363A>C | CA344582578 | IRF6 | c.435T>G (p.Asp145Glu) c.150T>G (p.Asp50Glu) | |
1 | g.209795363A>G | CA423030027 | IRF6 | c.435T>C (p.Asp145=) c.150T>C (p.Asp50=) | |
1 | g.209795363A>T | CA1377328 | IRF6 | c.435T>A (p.Asp145Glu) c.150T>A (p.Asp50Glu) | ClinVar dbSNP ExAC |
1 | g.209795364T>A | CA1377329 | IRF6 | c.434A>T (p.Asp145Val) c.149A>T (p.Asp50Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209795364T>C | CA344582579 | IRF6 | c.434A>G (p.Asp145Gly) c.149A>G (p.Asp50Gly) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209795364T>G | CA344582580 | IRF6 | c.434A>C (p.Asp145Ala) c.149A>C (p.Asp50Ala) | |
1 | g.209795364T= | CA1143142773 | IRF6 | c.434A= (p.Asp145=) c.149A= (p.Asp50=) | |
1 | g.209795365C>A | CA344582581 | IRF6 | c.433G>T (p.Asp145Tyr) c.148G>T (p.Asp50Tyr) | |
1 | g.209795365C>G | CA344582582 | IRF6 | c.433G>C (p.Asp145His) c.148G>C (p.Asp50His) | gnomAD v4 |
1 | g.209795365C>T | CA344582583 | IRF6 | c.433G>A (p.Asp145Asn) c.148G>A (p.Asp50Asn) | |
1 | g.209795366T>A | CA344582585 | IRF6 | c.432A>T (p.Glu144Asp) c.147A>T (p.Glu49Asp) | |
1 | g.209795366T>C | CA423030044 | IRF6 | c.432A>G (p.Glu144=) c.147A>G (p.Glu49=) | |
1 | g.209795366T>G | CA344582584 | IRF6 | c.432A>C (p.Glu144Asp) c.147A>C (p.Glu49Asp) | dbSNP gnomAD v2 |
1 | g.209795366T= | CA2484367241 | IRF6 | c.432A= (p.Glu144=) c.147A= (p.Glu49=) | |
1 | g.209795367T>A | CA344582586 | IRF6 | c.431A>T (p.Glu144Val) c.146A>T (p.Glu49Val) | |
1 | g.209795367T>C | CA344582588 | IRF6 | c.431A>G (p.Glu144Gly) c.146A>G (p.Glu49Gly) | |
1 | g.209795367T>G | CA344582587 | IRF6 | c.431A>C (p.Glu144Ala) c.146A>C (p.Glu49Ala) | |
1 | g.209795368C>A | CA344582589 | IRF6 | c.430G>T (p.Glu144Ter) c.145G>T (p.Glu49Ter) | ClinVar gnomAD v4 |
1 | g.209795368C= | CA2484367242 | IRF6 | c.430G= (p.Glu144=) c.145G= (p.Glu49=) | |
1 | g.209795368C>G | CA36754508 | IRF6 | c.430G>C (p.Glu144Gln) c.145G>C (p.Glu49Gln) | dbSNP gnomAD v4 |
1 | g.209795368C>T | CA344582590 | IRF6 | c.430G>A (p.Glu144Lys) c.145G>A (p.Glu49Lys) | |
1 | g.209795369T>A | CA344582591 | IRF6 | c.429A>T (p.Glu143Asp) c.144A>T (p.Glu48Asp) | |
1 | g.209795369T>C | CA1377330 | IRF6 | c.429A>G (p.Glu143=) c.144A>G (p.Glu48=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209795369T>G | CA344582592 | IRF6 | c.429A>C (p.Glu143Asp) c.144A>C (p.Glu48Asp) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209795369T= | CA1148475042 | IRF6 | c.429A= (p.Glu143=) c.144A= (p.Glu48=) | |
1 | g.209795370T>A | CA344582593 | IRF6 | c.428A>T (p.Glu143Val) c.143A>T (p.Glu48Val) | |
1 | g.209795370T>C | CA344582594 | IRF6 | c.428A>G (p.Glu143Gly) c.143A>G (p.Glu48Gly) | |
1 | g.209795370T>G | CA344582595 | IRF6 | c.428A>C (p.Glu143Ala) c.143A>C (p.Glu48Ala) | |
1 | g.209795371C>A | CA344582596 | IRF6 | c.427G>T (p.Glu143Ter) c.142G>T (p.Glu48Ter) | |
1 | g.209795371C>G | CA344582597 | IRF6 | c.427G>C (p.Glu143Gln) c.142G>C (p.Glu48Gln) | |
1 | g.209795371C>T | CA344582598 | IRF6 | c.427G>A (p.Glu143Lys) c.142G>A (p.Glu48Lys) | COSMIC |
1 | g.209795372A>C | CA344582599 | IRF6 | c.426T>G (p.Asp142Glu) c.141T>G (p.Asp47Glu) | |
1 | g.209795372A>G | CA423030053 | IRF6 | c.426T>C (p.Asp142=) c.141T>C (p.Asp47=) | |
1 | g.209795372A>T | CA344582600 | IRF6 | c.426T>A (p.Asp142Glu) c.141T>A (p.Asp47Glu) | |
1 | g.209795373T>A | CA344582601 | IRF6 | c.425A>T (p.Asp142Val) c.140A>T (p.Asp47Val) | |
1 | g.209795373T>C | CA344582602 | IRF6 | c.425A>G (p.Asp142Gly) c.140A>G (p.Asp47Gly) | dbSNP gnomAD v4 |
1 | g.209795373T>G | CA344582603 | IRF6 | c.425A>C (p.Asp142Ala) c.140A>C (p.Asp47Ala) | |
1 | g.209795373T= | CA2484367243 | IRF6 | c.425A= (p.Asp142=) c.140A= (p.Asp47=) | |
1 | g.209795374C>A | CA344582604 | IRF6 | c.424G>T (p.Asp142Tyr) c.139G>T (p.Asp47Tyr) | |
1 | g.209795374C>G | CA344582605 | IRF6 | c.424G>C (p.Asp142His) c.139G>C (p.Asp47His) | gnomAD v4 |
1 | g.209795374C>T | CA344582606 | IRF6 | c.424G>A (p.Asp142Asn) c.139G>A (p.Asp47Asn) | gnomAD v4 |
1 | g.209795375_209795377del | CA2586968073 | IRF6 | c.422_424del (p.Val141del) c.137_139del (p.Val46del) | |
1 | g.209795375C>A | CA423030059 | IRF6 | c.423G>T (p.Val141=) c.138G>T (p.Val46=) | |
1 | g.209795375C= | CA2484367244 | IRF6 | c.423G= (p.Val141=) c.138G= (p.Val46=) | |
1 | g.209795375C>G | CA423030062 | IRF6 | c.423G>C (p.Val141=) c.138G>C (p.Val46=) | |
1 | g.209795375C>T | CA36754513 | IRF6 | c.423G>A (p.Val141=) c.138G>A (p.Val46=) | dbSNP |
1 | g.209795376A>C | CA344582607 | IRF6 | c.422T>G (p.Val141Gly) c.137T>G (p.Val46Gly) | |
1 | g.209795376A>G | CA344582608 | IRF6 | c.422T>C (p.Val141Ala) c.137T>C (p.Val46Ala) | |
1 | g.209795376A>T | CA344582609 | IRF6 | c.422T>A (p.Val141Glu) c.137T>A (p.Val46Glu) | |
1 | g.209795377C>A | CA344582610 | IRF6 | c.421G>T (p.Val141Leu) c.136G>T (p.Val46Leu) | |
1 | g.209795377C= | CA2484367245 | IRF6 | c.421G= (p.Val141=) c.136G= (p.Val46=) | |
1 | g.209795377C>G | CA344582611 | IRF6 | c.421G>C (p.Val141Leu) c.136G>C (p.Val46Leu) | |
1 | g.209795377C>T | CA1377331 | IRF6 | c.421G>A (p.Val141Met) c.136G>A (p.Val46Met) | dbSNP ExAC gnomAD v2 |
1 | g.209795378A>C | CA344582612 | IRF6 | c.420T>G (p.Asp140Glu) c.135T>G (p.Asp45Glu) | |
1 | g.209795378A>G | CA423030068 | IRF6 | c.420T>C (p.Asp140=) c.135T>C (p.Asp45=) | gnomAD v4 |
1 | g.209795378A>T | CA344582613 | IRF6 | c.420T>A (p.Asp140Glu) c.135T>A (p.Asp45Glu) | |
1 | g.209795379T>A | CA344582614 | IRF6 | c.419A>T (p.Asp140Val) c.134A>T (p.Asp45Val) | |
1 | g.209795379T>C | CA344582616 | IRF6 | c.419A>G (p.Asp140Gly) c.134A>G (p.Asp45Gly) | ClinVar gnomAD v4 |
1 | g.209795379T>G | CA344582615 | IRF6 | c.419A>C (p.Asp140Ala) c.134A>C (p.Asp45Ala) | |
1 | g.209795380C>A | CA344582617 | IRF6 | c.418G>T (p.Asp140Tyr) c.133G>T (p.Asp45Tyr) | |
1 | g.209795380C= | CA2484367246 | IRF6 | c.418G= (p.Asp140=) c.133G= (p.Asp45=) | |
1 | g.209795380C>G | CA344582619 | IRF6 | c.418G>C (p.Asp140His) c.133G>C (p.Asp45His) | COSMIC |
1 | g.209795380C>T | CA344582618 | IRF6 | c.418G>A (p.Asp140Asn) c.133G>A (p.Asp45Asn) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209795381A>C | CA344582620 | IRF6 | c.417T>G (p.Asn139Lys) c.132T>G (p.Asn44Lys) | |
1 | g.209795381A>G | CA423030072 | IRF6 | c.417T>C (p.Asn139=) c.132T>C (p.Asn44=) | |
1 | g.209795381A>T | CA344582621 | IRF6 | c.417T>A (p.Asn139Lys) c.132T>A (p.Asn44Lys) | |
1 | g.209795382T>A | CA344582622 | IRF6 | c.416A>T (p.Asn139Ile) c.131A>T (p.Asn44Ile) | |
1 | g.209795382T>C | CA344582623 | IRF6 | c.416A>G (p.Asn139Ser) c.131A>G (p.Asn44Ser) | |
1 | g.209795382T>G | CA344582624 | IRF6 | c.416A>C (p.Asn139Thr) c.131A>C (p.Asn44Thr) | |
1 | g.209795383T>A | CA344582625 | IRF6 | c.415A>T (p.Asn139Tyr) c.130A>T (p.Asn44Tyr) | |
1 | g.209795383T>C | CA36754522 | IRF6 | c.415A>G (p.Asn139Asp) c.130A>G (p.Asn44Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209795383T>G | CA344582626 | IRF6 | c.415A>C (p.Asn139His) c.130A>C (p.Asn44His) | |
1 | g.209795383T= | CA1142177754 | IRF6 | c.415A= (p.Asn139=) c.130A= (p.Asn44=) | |
1 | g.209795384A>C | CA344582627 | IRF6 | c.414T>G (p.Asp138Glu) c.129T>G (p.Asp43Glu) | |
1 | g.209795384A>G | CA423030079 | IRF6 | c.414T>C (p.Asp138=) c.129T>C (p.Asp43=) | |
1 | g.209795384A>T | CA344582628 | IRF6 | c.414T>A (p.Asp138Glu) c.129T>A (p.Asp43Glu) | |
1 | g.209795385T>A | CA344582629 | IRF6 | c.413A>T (p.Asp138Val) c.128A>T (p.Asp43Val) | |
1 | g.209795385T>C | CA344582630 | IRF6 | c.413A>G (p.Asp138Gly) c.128A>G (p.Asp43Gly) | gnomAD v4 |
1 | g.209795385T>G | CA344582631 | IRF6 | c.413A>C (p.Asp138Ala) c.128A>C (p.Asp43Ala) | |
1 | g.209795386C>A | CA344582634 | IRF6 | c.412G>T (p.Asp138Tyr) c.127G>T (p.Asp43Tyr) | |
1 | g.209795386C>G | CA344582633 | IRF6 | c.412G>C (p.Asp138His) c.127G>C (p.Asp43His) | |
1 | g.209795386C>T | CA344582632 | IRF6 | c.412G>A (p.Asp138Asn) c.127G>A (p.Asp43Asn) | |
1 | g.209795387C>A | CA344582635 | IRF6 | c.411G>T (p.Lys137Asn) c.126G>T (p.Lys42Asn) | COSMIC |
1 | g.209795387C= | CA2484367247 | IRF6 | c.411G= (p.Lys137=) c.126G= (p.Lys42=) | |
1 | g.209795387C>G | CA344582636 | IRF6 | c.411G>C (p.Lys137Asn) c.126G>C (p.Lys42Asn) | |
1 | g.209795387C>T | CA423030084 | IRF6 | c.411G>A (p.Lys137=) c.126G>A (p.Lys42=) | dbSNP gnomAD v4 COSMIC |
1 | g.209795388T>A | CA344582637 | IRF6 | c.410A>T (p.Lys137Met) c.125A>T (p.Lys42Met) | |
1 | g.209795388T>C | CA344582638 | IRF6 | c.410A>G (p.Lys137Arg) c.125A>G (p.Lys42Arg) | |
1 | g.209795388T>G | CA344582639 | IRF6 | c.410A>C (p.Lys137Thr) c.125A>C (p.Lys42Thr) | |
1 | g.209795389dup | CA2586968074 | IRF6 | c.410dup (p.Asp138GlyfsTer2) c.125dup (p.Asp43GlyfsTer2) | |
1 | g.209795389T>A | CA344582640 | IRF6 | c.409A>T (p.Lys137Ter) c.124A>T (p.Lys42Ter) | |
1 | g.209795389T>C | CA344582641 | IRF6 | c.409A>G (p.Lys137Glu) c.124A>G (p.Lys42Glu) | |
1 | g.209795389T>G | CA36754525 | IRF6 | c.409A>C (p.Lys137Gln) c.124A>C (p.Lys42Gln) | dbSNP |
1 | g.209795389T= | CA2484367248 | IRF6 | c.409A= (p.Lys137=) c.124A= (p.Lys42=) | |
1 | g.209795390C>A | CA344582642 | IRF6 | c.408G>T (p.Glu136Asp) c.123G>T (p.Glu41Asp) | |
1 | g.209795390C= | CA2484367249 | IRF6 | c.408G= (p.Glu136=) c.123G= (p.Glu41=) | |
1 | g.209795390C>G | CA344582643 | IRF6 | c.408G>C (p.Glu136Asp) c.123G>C (p.Glu41Asp) | |
1 | g.209795390C>T | CA423030088 | IRF6 | c.408G>A (p.Glu136=) c.123G>A (p.Glu41=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209795391T>A | CA344582644 | IRF6 | c.407A>T (p.Glu136Val) c.122A>T (p.Glu41Val) | |
1 | g.209795391T>C | CA344582645 | IRF6 | c.407A>G (p.Glu136Gly) c.122A>G (p.Glu41Gly) | |
1 | g.209795391T>G | CA344582646 | IRF6 | c.407A>C (p.Glu136Ala) c.122A>C (p.Glu41Ala) | |
1 | g.209795392C>A | CA344582647 | IRF6 | c.406G>T (p.Glu136Ter) c.121G>T (p.Glu41Ter) | |
1 | g.209795392C= | CA2484367250 | IRF6 | c.406G= (p.Glu136=) c.121G= (p.Glu41=) | |
1 | g.209795392C>G | CA344582648 | IRF6 | c.406G>C (p.Glu136Gln) c.121G>C (p.Glu41Gln) | |
1 | g.209795392C>T | CA1377332 | IRF6 | c.406G>A (p.Glu136Lys) c.121G>A (p.Glu41Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209795393A>C | CA344582649 | IRF6 | c.405T>G (p.Asp135Glu) c.120T>G (p.Asp40Glu) | gnomAD v4 |
1 | g.209795393A>G | CA423030093 | IRF6 | c.405T>C (p.Asp135=) c.120T>C (p.Asp40=) | |
1 | g.209795393A>T | CA344582650 | IRF6 | c.405T>A (p.Asp135Glu) c.120T>A (p.Asp40Glu) | |
1 | g.209795393_209795394insAA | CA2586968075 | IRF6 | c.405_406insTT (p.Glu136LeufsTer?) c.120_121insTT (p.Glu41LeufsTer?) | |
1 | g.209795394T>A | CA344582651 | IRF6 | c.404A>T (p.Asp135Val) c.119A>T (p.Asp40Val) | |
1 | g.209795394T>C | CA1377333 | IRF6 | c.404A>G (p.Asp135Gly) c.119A>G (p.Asp40Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209795394T>G | CA344582652 | IRF6 | c.404A>C (p.Asp135Ala) c.119A>C (p.Asp40Ala) | |
1 | g.209795394T= | CA2484367251 | IRF6 | c.404A= (p.Asp135=) c.119A= (p.Asp40=) | |
1 | g.209795395C>A | CA344582653 | IRF6 | c.403G>T (p.Asp135Tyr) c.118G>T (p.Asp40Tyr) | |
1 | g.209795395C>G | CA344582654 | IRF6 | c.403G>C (p.Asp135His) c.118G>C (p.Asp40His) | |
1 | g.209795395C>T | CA344582655 | IRF6 | c.403G>A (p.Asp135Asn) c.118G>A (p.Asp40Asn) | gnomAD v4 COSMIC |
1 | g.209795396C>A | CA344582656 | IRF6 | c.402G>T (p.Trp134Cys) c.117G>T (p.Trp39Cys) | dbSNP |
1 | g.209795396C= | CA2484367252 | IRF6 | c.402G= (p.Trp134=) c.117G= (p.Trp39=) | |
1 | g.209795396C>G | CA344582657 | IRF6 | c.402G>C (p.Trp134Cys) c.117G>C (p.Trp39Cys) | |
1 | g.209795396C>T | CA344582658 | IRF6 | c.402G>A (p.Trp134Ter) c.117G>A (p.Trp39Ter) | |
1 | g.209795397C>A | CA344582661 | IRF6 | c.401G>T (p.Trp134Leu) c.116G>T (p.Trp39Leu) | |
1 | g.209795397C>G | CA344582660 | IRF6 | c.401G>C (p.Trp134Ser) c.116G>C (p.Trp39Ser) | |
1 | g.209795397C>T | CA344582659 | IRF6 | c.401G>A (p.Trp134Ter) c.116G>A (p.Trp39Ter) | |
1 | g.209795398A= | CA2484367253 | IRF6 | c.400T= (p.Trp134=) c.115T= (p.Trp39=) | |
1 | g.209795398A>C | CA344582662 | IRF6 | c.400T>G (p.Trp134Gly) c.115T>G (p.Trp39Gly) | |
1 | g.209795398A>G | CA1377334 | IRF6 | c.400T>C (p.Trp134Arg) c.115T>C (p.Trp39Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209795398A>T | CA344582663 | IRF6 | c.400T>A (p.Trp134Arg) c.115T>A (p.Trp39Arg) | |
1 | g.209795399G>A | CA423030102 | IRF6 | c.399C>T (p.Pro133=) c.114C>T (p.Pro38=) | COSMIC |
1 | g.209795399G>C | CA423030103 | IRF6 | c.399C>G (p.Pro133=) c.114C>G (p.Pro38=) | |
1 | g.209795399G>T | CA423030104 | IRF6 | c.399C>A (p.Pro133=) c.114C>A (p.Pro38=) | |
1 | g.209795401del | CA2586968076 | IRF6 | c.399del (p.Trp134GlyfsTer?) c.114del (p.Trp39GlyfsTer?) | |
1 | g.209795400G>A | CA344582664 | IRF6 | c.398C>T (p.Pro133Leu) c.113C>T (p.Pro38Leu) | dbSNP gnomAD v4 |
1 | g.209795400G>C | CA344582665 | IRF6 | c.398C>G (p.Pro133Arg) c.113C>G (p.Pro38Arg) | |
1 | g.209795400G= | CA2484367254 | IRF6 | c.398C= (p.Pro133=) c.113C= (p.Pro38=) | |
1 | g.209795400G>T | CA344582666 | IRF6 | c.398C>A (p.Pro133His) c.113C>A (p.Pro38His) | |
1 | g.209795400_209795401delinsAA | CA645526286 | IRF6 | c.397_398delinsTT (p.Pro133Phe) c.112_113delinsTT (p.Pro38Phe) | COSMIC |
1 | g.209795403_209795416del | CA2586968077 | IRF6 | c.385_398del (p.Thr129LeufsTer3) c.100_113del (p.Thr34LeufsTer3) | |
1 | g.209795401G>A | CA344582667 | IRF6 | c.397C>T (p.Pro133Ser) c.112C>T (p.Pro38Ser) | dbSNP gnomAD v4 |
1 | g.209795401G>C | CA344582668 | IRF6 | c.397C>G (p.Pro133Ala) c.112C>G (p.Pro38Ala) | |
1 | g.209795401G= | CA2484367255 | IRF6 | c.397C= (p.Pro133=) c.112C= (p.Pro38=) | |
1 | g.209795401G>T | CA344582669 | IRF6 | c.397C>A (p.Pro133Thr) c.112C>A (p.Pro38Thr) | |
1 | g.209795402A>C | CA423030111 | IRF6 | c.396T>G (p.Ala132=) c.111T>G (p.Ala37=) | |
1 | g.209795402A>G | CA423030112 | IRF6 | c.396T>C (p.Ala132=) c.111T>C (p.Ala37=) | |
1 | g.209795402A>T | CA423030113 | IRF6 | c.396T>A (p.Ala132=) c.111T>A (p.Ala37=) | |
1 | g.209795403G>A | CA344582670 | IRF6 | c.395C>T (p.Ala132Val) c.110C>T (p.Ala37Val) | dbSNP |
1 | g.209795403G>C | CA344582671 | IRF6 | c.395C>G (p.Ala132Gly) c.110C>G (p.Ala37Gly) | |
1 | g.209795403G= | CA2484367256 | IRF6 | c.395C= (p.Ala132=) c.110C= (p.Ala37=) | |
1 | g.209795403G>T | CA344582672 | IRF6 | c.395C>A (p.Ala132Asp) c.110C>A (p.Ala37Asp) | |
1 | g.209795404C>A | CA344582675 | IRF6 | c.394G>T (p.Ala132Ser) c.109G>T (p.Ala37Ser) | gnomAD v4 |
1 | g.209795404C>G | CA344582674 | IRF6 | c.394G>C (p.Ala132Pro) c.109G>C (p.Ala37Pro) | |
1 | g.209795404C>T | CA344582673 | IRF6 | c.394G>A (p.Ala132Thr) c.109G>A (p.Ala37Thr) | COSMIC |
1 | g.209795405A>C | CA423030119 | IRF6 | c.393T>G (p.Ser131=) c.108T>G (p.Ser36=) | |
1 | g.209795405A>G | CA423030126 | IRF6 | c.393T>C (p.Ser131=) c.108T>C (p.Ser36=) | |
1 | g.209795405A>T | CA423030122 | IRF6 | c.393T>A (p.Ser131=) c.108T>A (p.Ser36=) | |
1 | g.209795406G>A | CA344582676 | IRF6 | c.392C>T (p.Ser131Phe) c.107C>T (p.Ser36Phe) | |
1 | g.209795406G>C | CA344582678 | IRF6 | c.392C>G (p.Ser131Cys) c.107C>G (p.Ser36Cys) | |
1 | g.209795406G>T | CA344582677 | IRF6 | c.392C>A (p.Ser131Tyr) c.107C>A (p.Ser36Tyr) | |
1 | g.209795407A= | CA2484367257 | IRF6 | c.391T= (p.Ser131=) c.106T= (p.Ser36=) | |
1 | g.209795407A>C | CA344582679 | IRF6 | c.391T>G (p.Ser131Ala) c.106T>G (p.Ser36Ala) | |
1 | g.209795407A>G | CA1377335 | IRF6 | c.391T>C (p.Ser131Pro) c.106T>C (p.Ser36Pro) | dbSNP ExAC gnomAD v2 |
1 | g.209795407A>T | CA344582680 | IRF6 | c.391T>A (p.Ser131Thr) c.106T>A (p.Ser36Thr) | |
1 | g.209795408C>A | CA1377336 | IRF6 | c.390G>T (p.Gly130=) c.105G>T (p.Gly35=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209795408C= | CA1140544744 | IRF6 | c.390G= (p.Gly130=) c.105G= (p.Gly35=) | |
1 | g.209795408C>G | CA423030135 | IRF6 | c.390G>C (p.Gly130=) c.105G>C (p.Gly35=) | dbSNP |
1 | g.209795408C>T | CA1377337 | IRF6 | c.390G>A (p.Gly130=) c.105G>A (p.Gly35=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209795409C>A | CA344582681 | IRF6 | c.389G>T (p.Gly130Val) c.104G>T (p.Gly35Val) | |
1 | g.209795409C>G | CA344582682 | IRF6 | c.389G>C (p.Gly130Ala) c.104G>C (p.Gly35Ala) | |
1 | g.209795409C>T | CA344582683 | IRF6 | c.389G>A (p.Gly130Glu) c.104G>A (p.Gly35Glu) | |
1 | g.209795410C>A | CA344582684 | IRF6 | c.388G>T (p.Gly130Trp) c.103G>T (p.Gly35Trp) | |
1 | g.209795410C>G | CA344582685 | IRF6 | c.388G>C (p.Gly130Arg) c.103G>C (p.Gly35Arg) | |
1 | g.209795410C>T | CA344582686 | IRF6 | c.388G>A (p.Gly130Arg) c.103G>A (p.Gly35Arg) | |
1 | g.209795411T>A | CA423030140 | IRF6 | c.387A>T (p.Thr129=) c.102A>T (p.Thr34=) | |
1 | g.209795411T>C | CA423030141 | IRF6 | c.387A>G (p.Thr129=) c.102A>G (p.Thr34=) | |
1 | g.209795411T>G | CA423030142 | IRF6 | c.387A>C (p.Thr129=) c.102A>C (p.Thr34=) | |
1 | g.209795412G>A | CA344582689 | IRF6 | c.386C>T (p.Thr129Ile) c.101C>T (p.Thr34Ile) | |
1 | g.209795412G>C | CA344582688 | IRF6 | c.386C>G (p.Thr129Arg) c.101C>G (p.Thr34Arg) | |
1 | g.209795412G>T | CA344582687 | IRF6 | c.386C>A (p.Thr129Lys) c.101C>A (p.Thr34Lys) | |
1 | g.209795413T>A | CA344582690 | IRF6 | c.385A>T (p.Thr129Ser) c.100A>T (p.Thr34Ser) | |
1 | g.209795413T>C | CA36754536 | IRF6 | c.385A>G (p.Thr129Ala) c.100A>G (p.Thr34Ala) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209795413T>G | CA344582691 | IRF6 | c.385A>C (p.Thr129Pro) c.100A>C (p.Thr34Pro) | dbSNP |
1 | g.209795413T= | CA1141238760 | IRF6 | c.385A= (p.Thr129=) c.100A= (p.Thr34=) | |
1 | g.209795414G>A | CA423030151 | IRF6 | c.384C>T (p.Ser128=) c.99C>T (p.Ser33=) | |
1 | g.209795414G>C | CA423030152 | IRF6 | c.384C>G (p.Ser128=) c.99C>G (p.Ser33=) | |
1 | g.209795414G>T | CA423030154 | IRF6 | c.384C>A (p.Ser128=) c.99C>A (p.Ser33=) | |
1 | g.209795415G>A | CA344582692 | IRF6 | c.383C>T (p.Ser128Phe) c.98C>T (p.Ser33Phe) | |
1 | g.209795415G>C | CA344582693 | IRF6 | c.383C>G (p.Ser128Cys) c.98C>G (p.Ser33Cys) | |
1 | g.209795415G>T | CA344582694 | IRF6 | c.383C>A (p.Ser128Tyr) c.98C>A (p.Ser33Tyr) | |
1 | g.209795416A>C | CA344582695 | IRF6 | c.382T>G (p.Ser128Ala) c.97T>G (p.Ser33Ala) | |
1 | g.209795416A>G | CA344582696 | IRF6 | c.382T>C (p.Ser128Pro) c.97T>C (p.Ser33Pro) | |
1 | g.209795416A>T | CA344582697 | IRF6 | c.382T>A (p.Ser128Thr) c.97T>A (p.Ser33Thr) | |
1 | g.209795417T>A | CA423030157 | IRF6 | c.381A>T (p.Gly127=) c.96A>T (p.Gly32=) | |
1 | g.209795417T>C | CA423030159 | IRF6 | c.381A>G (p.Gly127=) c.96A>G (p.Gly32=) | |
1 | g.209795417T>G | CA423030161 | IRF6 | c.381A>C (p.Gly127=) c.96A>C (p.Gly32=) | |
1 | g.209795418C>A | CA344582698 | IRF6 | c.380G>T (p.Gly127Val) c.95G>T (p.Gly32Val) | |
1 | g.209795418C= | CA2484367258 | IRF6 | c.380G= (p.Gly127=) c.95G= (p.Gly32=) | |
1 | g.209795418C>G | CA344582699 | IRF6 | c.380G>C (p.Gly127Ala) c.95G>C (p.Gly32Ala) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209795418C>T | CA344582700 | IRF6 | c.380G>A (p.Gly127Glu) c.95G>A (p.Gly32Glu) | |
1 | g.209795419C>A | CA344582703 | IRF6 | c.380-1G>T (n.380-1G>T) c.95-1G>T (n.95-1G>T) | |
1 | g.209795419C>G | CA344582702 | IRF6 | c.380-1G>C (n.380-1G>C) c.95-1G>C (n.95-1G>C) | |
1 | g.209795419C>T | CA344582701 | IRF6 | c.380-1G>A (n.380-1G>A) c.95-1G>A (n.95-1G>A) | |
1 | g.209795420T>A | CA344582704 | IRF6 | c.380-2A>T (n.380-2A>T) c.95-2A>T (n.95-2A>T) | |
1 | g.209795420T>C | CA344582705 | IRF6 | c.380-2A>G (n.380-2A>G) c.95-2A>G (n.95-2A>G) | |
1 | g.209795420T>G | CA344582706 | IRF6 | c.380-2A>C (n.380-2A>C) c.95-2A>C (n.95-2A>C) | |
1 | g.209795421A>G | CA2556274289 | IRF6 | c.380-3T>C (n.380-3T>C) c.95-3T>C (n.95-3T>C) | gnomAD v4 |
1 | g.209795421A>T | CA2747565172 | IRF6 | c.380-3T>A (n.380-3T>A) c.95-3T>A (n.95-3T>A) | |
1 | g.209795422C= | CA1143924870 | IRF6 | c.380-4G= (n.380-4G=) c.95-4G= (n.95-4G=) | |
1 | g.209795422C>T | CA1377338 | IRF6 | c.380-4G>A (n.380-4G>A) c.95-4G>A (n.95-4G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209795424del | CA2650336335 | IRF6 | c.380-4del (n.380-4del) c.95-4del (n.95-4del) | gnomAD v4 |
1 | g.209795423C>A | CA36754541 | IRF6 | c.380-5G>T (n.380-5G>T) c.95-5G>T (n.95-5G>T) | dbSNP |
1 | g.209795423C= | CA2484367259 | IRF6 | c.380-5G= (n.380-5G=) c.95-5G= (n.95-5G=) | |
1 | g.209795423C>T | CA730857800 | IRF6 | c.380-5G>A (n.380-5G>A) c.95-5G>A (n.95-5G>A) | dbSNP gnomAD v4 |
1 | g.209795424C>A | CA2574125124 | IRF6 | c.380-6G>T (n.380-6G>T) c.95-6G>T (n.95-6G>T) | |
1 | g.209795426A= | CA2484367260 | IRF6 | c.380-8T= (n.380-8T=) c.95-8T= (n.95-8T=) | |
1 | g.209795426A>T | CA730857802 | IRF6 | c.380-8T>A (n.380-8T>A) c.95-8T>A (n.95-8T>A) | dbSNP |
1 | g.209795426_209795427insAAAACA | CA2747565174 | IRF6 | c.380-8_380-7insGTTTTT (n.380-8_380-7insGTTTTT) c.95-8_95-7insGTTTTT (n.95-8_95-7insGTTTTT) | |
1 | g.209795429T>A | CA2509266069 | IRF6 | c.380-11A>T (n.380-11A>T) c.95-11A>T (n.95-11A>T) | |
1 | g.209795431C>A | CA2574125125 | IRF6 | c.380-13G>T (n.380-13G>T) c.95-13G>T (n.95-13G>T) | |
1 | g.209795431C>T | CA2698000757 | IRF6 | c.380-13G>A (n.380-13G>A) c.95-13G>A (n.95-13G>A) | dbSNP |
1 | g.209795433C>A | CA528646068 | IRF6 | c.380-15G>T (n.380-15G>T) c.95-15G>T (n.95-15G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209795433C= | CA2484367261 | IRF6 | c.380-15G= (n.380-15G=) c.95-15G= (n.95-15G=) | |
1 | g.209795433C>T | CA528646069 | IRF6 | c.380-15G>A (n.380-15G>A) c.95-15G>A (n.95-15G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209795435A= | CA2484367262 | IRF6 | c.380-17T= (n.380-17T=) c.95-17T= (n.95-17T=) | |
1 | g.209795435A>G | CA1377339 | IRF6 | c.380-17T>C (n.380-17T>C) c.95-17T>C (n.95-17T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209795437C>T | CA2650336337 | IRF6 | c.380-19G>A (n.380-19G>A) c.95-19G>A (n.95-19G>A) | gnomAD v4 |
1 | g.209795439C= | CA1144086646 | IRF6 | c.380-21G= (n.380-21G=) c.95-21G= (n.95-21G=) | |
1 | g.209795439C>T | CA1377340 | IRF6 | c.380-21G>A (n.380-21G>A) c.95-21G>A (n.95-21G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209795440G>A | CA1377341 | IRF6 | c.380-22C>T (n.380-22C>T) c.95-22C>T (n.95-22C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209795440G= | CA2484367263 | IRF6 | c.380-22C= (n.380-22C=) c.95-22C= (n.95-22C=) | |
1 | g.209795441C>A | CA528646074 | IRF6 | c.380-23G>T (n.380-23G>T) c.95-23G>T (n.95-23G>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209795441C= | CA2484367264 | IRF6 | c.380-23G= (n.380-23G=) c.95-23G= (n.95-23G=) | |
1 | g.209795441C>T | CA2650336338 | IRF6 | c.380-23G>A (n.380-23G>A) c.95-23G>A (n.95-23G>A) | gnomAD v4 |
1 | g.209795442A= | CA2484367265 | IRF6 | c.380-24T= (n.380-24T=) c.95-24T= (n.95-24T=) | |
1 | g.209795442A>C | CA730857815 | IRF6 | c.380-24T>G (n.380-24T>G) c.95-24T>G (n.95-24T>G) | dbSNP |
1 | g.209795444G>A | CA646387515 | IRF6 | c.380-26C>T (n.380-26C>T) c.95-26C>T (n.95-26C>T) | gnomAD v4 COSMIC |
1 | g.209795444G>C | CA2747565180 | IRF6 | c.380-26C>G (n.380-26C>G) c.95-26C>G (n.95-26C>G) | |
1 | g.209795445T>C | CA528646076 | IRF6 | c.380-27A>G (n.380-27A>G) c.95-27A>G (n.95-27A>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209795445T= | CA2484367266 | IRF6 | c.380-27A= (n.380-27A=) c.95-27A= (n.95-27A=) | |
1 | g.209795446G>A | CA2650336339 | IRF6 | c.380-28C>T (n.380-28C>T) c.95-28C>T (n.95-28C>T) | gnomAD v4 |
1 | g.209795446G>T | CA2513816271 | IRF6 | c.380-28C>A (n.380-28C>A) c.95-28C>A (n.95-28C>A) | |
1 | g.209795448G>A | CA1377342 | IRF6 | c.380-30C>T (n.380-30C>T) c.95-30C>T (n.95-30C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209795448G= | CA2484367268 | IRF6 | c.380-30C= (n.380-30C=) c.95-30C= (n.95-30C=) | |
1 | g.209795448_209795449delinsGC | CA2484367267 | IRF6 | c.380-31_380-30delinsGC (n.380-31_380-30delinsGC) c.95-31_95-30delinsGC (n.95-31_95-30delinsGC) | |
1 | g.209795450del | CA2484367269 | IRF6 | c.380-31del (n.380-31del) c.95-31del (n.95-31del) | dbSNP gnomAD v4 |
1 | g.209795451A= | CA2484367270 | IRF6 | c.380-33T= (n.380-33T=) c.95-33T= (n.95-33T=) | |
1 | g.209795451A>G | CA2484367271 | IRF6 | c.380-33T>C (n.380-33T>C) c.95-33T>C (n.95-33T>C) | dbSNP |
1 | g.209795451A>T | CA2650336342 | IRF6 | c.380-33T>A (n.380-33T>A) c.95-33T>A (n.95-33T>A) | gnomAD v4 |
1 | g.209795452T>A | CA2650336346 | IRF6 | c.380-34A>T (n.380-34A>T) c.95-34A>T (n.95-34A>T) | gnomAD v4 |
1 | g.209795452T>C | CA1377343 | IRF6 | c.380-34A>G (n.380-34A>G) c.95-34A>G (n.95-34A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209795452T= | CA2484367272 | IRF6 | c.380-34A= (n.380-34A=) c.95-34A= (n.95-34A=) | |
1 | g.209795455A= | CA2484367273 | IRF6 | c.380-37T= (n.380-37T=) c.95-37T= (n.95-37T=) | |
1 | g.209795455A>G | CA528646078 | IRF6 | c.380-37T>C (n.380-37T>C) c.95-37T>C (n.95-37T>C) | dbSNP gnomAD v2 gnomAD v4 |