Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.209795344G>A | CA16603558 | IRF6 | c.454C>T (p.Gln152Ter) c.169C>T (p.Gln57Ter) | ClinVar dbSNP |
1 | g.209795344G>C | CA344582533 | IRF6 | c.454C>G (p.Gln152Glu) c.169C>G (p.Gln57Glu) | COSMIC |
1 | g.209795344G= | CA2484367235 | IRF6 | c.454C= (p.Gln152=) c.169C= (p.Gln57=) | |
1 | g.209795344G>T | CA344582534 | IRF6 | c.454C>A (p.Gln152Lys) c.169C>A (p.Gln57Lys) | |
1 | g.209795345A>C | CA344582535 | IRF6 | c.453T>G (p.Asp151Glu) c.168T>G (p.Asp56Glu) | |
1 | g.209795345A>G | CA423029980 | IRF6 | c.453T>C (p.Asp151=) c.168T>C (p.Asp56=) | |
1 | g.209795345A>T | CA344582536 | IRF6 | c.453T>A (p.Asp151Glu) c.168T>A (p.Asp56Glu) | |
1 | g.209795346T>A | CA344582537 | IRF6 | c.452A>T (p.Asp151Val) c.167A>T (p.Asp56Val) | |
1 | g.209795346T>C | CA344582538 | IRF6 | c.452A>G (p.Asp151Gly) c.167A>G (p.Asp56Gly) | |
1 | g.209795346T>G | CA344582539 | IRF6 | c.452A>C (p.Asp151Ala) c.167A>C (p.Asp56Ala) | |
1 | g.209795347C>A | CA344582542 | IRF6 | c.451G>T (p.Asp151Tyr) c.166G>T (p.Asp56Tyr) | COSMIC |
1 | g.209795347C>G | CA344582541 | IRF6 | c.451G>C (p.Asp151His) c.166G>C (p.Asp56His) | gnomAD v4 |
1 | g.209795347C>T | CA344582540 | IRF6 | c.451G>A (p.Asp151Asn) c.166G>A (p.Asp56Asn) | COSMIC |
1 | g.209795348C>A | CA423029988 | IRF6 | c.450G>T (p.Leu150=) c.165G>T (p.Leu55=) | |
1 | g.209795348C>G | CA423029994 | IRF6 | c.450G>C (p.Leu150=) c.165G>C (p.Leu55=) | |
1 | g.209795348C>T | CA423029991 | IRF6 | c.450G>A (p.Leu150=) c.165G>A (p.Leu55=) | |
1 | g.209795349A>C | CA344582543 | IRF6 | c.449T>G (p.Leu150Arg) c.164T>G (p.Leu55Arg) | gnomAD v4 |
1 | g.209795349A>G | CA344582544 | IRF6 | c.449T>C (p.Leu150Pro) c.164T>C (p.Leu55Pro) | |
1 | g.209795349A>T | CA344582545 | IRF6 | c.449T>A (p.Leu150Gln) c.164T>A (p.Leu55Gln) | |
1 | g.209795350G>A | CA423029996 | IRF6 | c.448C>T (p.Leu150=) c.163C>T (p.Leu55=) | gnomAD v4 |
1 | g.209795350G>C | CA344582546 | IRF6 | c.448C>G (p.Leu150Val) c.163C>G (p.Leu55Val) | |
1 | g.209795350G>T | CA344582547 | IRF6 | c.448C>A (p.Leu150Met) c.163C>A (p.Leu55Met) | |
1 | g.209795351C>A | CA344582548 | IRF6 | c.447G>T (p.Glu149Asp) c.162G>T (p.Glu54Asp) | |
1 | g.209795351C>G | CA344582549 | IRF6 | c.447G>C (p.Glu149Asp) c.162G>C (p.Glu54Asp) | |
1 | g.209795351C>T | CA423030003 | IRF6 | c.447G>A (p.Glu149=) c.162G>A (p.Glu54=) | |
1 | g.209795352T>A | CA344582550 | IRF6 | c.446A>T (p.Glu149Val) c.161A>T (p.Glu54Val) | |
1 | g.209795352T>C | CA344582551 | IRF6 | c.446A>G (p.Glu149Gly) c.161A>G (p.Glu54Gly) | |
1 | g.209795352T>G | CA344582552 | IRF6 | c.446A>C (p.Glu149Ala) c.161A>C (p.Glu54Ala) | |
1 | g.209795353C>A | CA344582553 | IRF6 | c.445G>T (p.Glu149Ter) c.160G>T (p.Glu54Ter) | |
1 | g.209795353C= | CA2484367236 | IRF6 | c.445G= (p.Glu149=) c.160G= (p.Glu54=) | |
1 | g.209795353C>G | CA344582554 | IRF6 | c.445G>C (p.Glu149Gln) c.160G>C (p.Glu54Gln) | |
1 | g.209795353C>T | CA36754488 | IRF6 | c.445G>A (p.Glu149Lys) c.160G>A (p.Glu54Lys) | dbSNP gnomAD v4 |
1 | g.209795354A= | CA1148270651 | IRF6 | c.444T= (p.Asp148=) c.159T= (p.Asp53=) | |
1 | g.209795354A>C | CA344582555 | IRF6 | c.444T>G (p.Asp148Glu) c.159T>G (p.Asp53Glu) | gnomAD v4 |
1 | g.209795354A>G | CA423030008 | IRF6 | c.444T>C (p.Asp148=) c.159T>C (p.Asp53=) | |
1 | g.209795354A>T | CA1377327 | IRF6 | c.444T>A (p.Asp148Glu) c.159T>A (p.Asp53Glu) | dbSNP ExAC gnomAD v2 |
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 |