| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.49016109T>A | CA406776361 | LHB | c.385A>T (p.Thr129Ser) n.476A>T c.379A>T (p.Thr127Ser) c.433A>T (p.Thr145Ser) | |
| 19 | g.49016109T>C | CA406776369 | LHB | c.385A>G (p.Thr129Ala) n.476A>G c.379A>G (p.Thr127Ala) c.433A>G (p.Thr145Ala) | dbSNP |
| 19 | g.49016109T>G | CA406776371 | LHB | c.385A>C (p.Thr129Pro) n.476A>C c.379A>C (p.Thr127Pro) c.433A>C (p.Thr145Pro) | |
| 19 | g.49016110C>A | CA406776373 | LHB | c.384G>T (p.Leu128Phe) n.475G>T c.378G>T (p.Leu126Phe) c.432G>T (p.Leu144Phe) | |
| 19 | g.49016110C>G | CA406776375 | LHB | c.384G>C (p.Leu128Phe) n.475G>C c.378G>C (p.Leu126Phe) c.432G>C (p.Leu144Phe) | |
| 19 | g.49016110C>T | CA508277105 | LHB | c.384G>A (p.Leu128=) n.475G>A c.378G>A (p.Leu126=) c.432G>A (p.Leu144=) | COSMIC |
| 19 | g.49016111A>C | CA406776379 | LHB | c.383T>G (p.Leu128Trp) n.474T>G c.377T>G (p.Leu126Trp) c.431T>G (p.Leu144Trp) | |
| 19 | g.49016111A>G | CA406776381 | LHB | c.383T>C (p.Leu128Ser) n.474T>C c.377T>C (p.Leu126Ser) c.431T>C (p.Leu144Ser) | |
| 19 | g.49016111A>T | CA406776377 | LHB | c.383T>A (p.Leu128Ter) n.474T>A c.377T>A (p.Leu126Ter) c.431T>A (p.Leu144Ter) | |
| 19 | g.49016112A>C | CA406776383 | LHB | c.382T>G (p.Leu128Val) n.473T>G c.376T>G (p.Leu126Val) c.430T>G (p.Leu144Val) | |
| 19 | g.49016112A>G | CA508277106 | LHB | c.382T>C (p.Leu128=) n.473T>C c.376T>C (p.Leu126=) c.430T>C (p.Leu144=) | |
| 19 | g.49016112A>T | CA406776384 | LHB | c.382T>A (p.Leu128Met) n.473T>A c.376T>A (p.Leu126Met) c.430T>A (p.Leu144Met) | |
| 19 | g.49016112_49016113delinsAG | CA2340186753 | LHB | c.381_382delinsCT (p.Pro127=) n.472_473delinsCT c.375_376delinsCT (p.Pro125=) c.429_430delinsCT (p.Pro143=) | |
| 19 | g.49016113G>A | CA508277211 | LHB | c.381C>T (p.Pro127=) n.472C>T c.375C>T (p.Pro125=) c.429C>T (p.Pro143=) | gnomAD v4 |
| 19 | g.49016113G>C | CA508277212 | LHB | c.381C>G (p.Pro127=) n.472C>G c.375C>G (p.Pro125=) c.429C>G (p.Pro143=) | gnomAD v4 |
| 19 | g.49016113G>T | CA508277213 | LHB | c.381C>A (p.Pro127=) n.472C>A c.375C>A (p.Pro125=) c.429C>A (p.Pro143=) | |
| 19 | g.49016116del | CA883071632 | LHB | c.381del (p.Leu128Ter) n.472del c.375del (p.Leu126Ter) c.429del (p.Leu144Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.49016114G>A | CA406777046 | LHB | c.380C>T (p.Pro127Leu) n.471C>T c.374C>T (p.Pro125Leu) c.428C>T (p.Pro143Leu) | |
| 19 | g.49016114G>C | CA406777048 | LHB | c.380C>G (p.Pro127Arg) n.471C>G c.374C>G (p.Pro125Arg) c.428C>G (p.Pro143Arg) | dbSNP |
| 19 | g.49016114G= | CA2340186755 | LHB | c.380C= (p.Pro127=) n.471C= c.374C= (p.Pro125=) c.428C= (p.Pro143=) | |
| 19 | g.49016114G>T | CA406777050 | LHB | c.380C>A (p.Pro127His) n.471C>A c.374C>A (p.Pro125His) c.428C>A (p.Pro143His) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.49016115G>A | CA406777051 | LHB | c.379C>T (p.Pro127Ser) n.470C>T c.373C>T (p.Pro125Ser) c.427C>T (p.Pro143Ser) | |
| 19 | g.49016115G>C | CA406777053 | LHB | c.379C>G (p.Pro127Ala) n.470C>G c.373C>G (p.Pro125Ala) c.427C>G (p.Pro143Ala) | dbSNP |
| 19 | g.49016115G>T | CA406777055 | LHB | c.379C>A (p.Pro127Thr) n.470C>A c.373C>A (p.Pro125Thr) c.427C>A (p.Pro143Thr) | |
| 19 | g.49016116G>A | CA508277215 | LHB | c.378C>T (p.His126=) n.469C>T c.372C>T (p.His124=) c.426C>T (p.His142=) | |
| 19 | g.49016116G>C | CA406777057 | LHB | c.378C>G (p.His126Gln) n.469C>G c.372C>G (p.His124Gln) c.426C>G (p.His142Gln) | |
| 19 | g.49016116G>T | CA406777058 | LHB | c.378C>A (p.His126Gln) n.469C>A c.372C>A (p.His124Gln) c.426C>A (p.His142Gln) | COSMIC |
| 19 | g.49016117T>A | CA406777060 | LHB | c.377A>T (p.His126Leu) n.468A>T c.371A>T (p.His124Leu) c.425A>T (p.His142Leu) | |
| 19 | g.49016117T>C | CA406777062 | LHB | c.377A>G (p.His126Arg) n.468A>G c.371A>G (p.His124Arg) c.425A>G (p.His142Arg) | |
| 19 | g.49016117T>G | CA406777064 | LHB | c.377A>C (p.His126Pro) n.468A>C c.371A>C (p.His124Pro) c.425A>C (p.His142Pro) | |
| 19 | g.49016118G>A | CA406777069 | LHB | c.376C>T (p.His126Tyr) n.467C>T c.370C>T (p.His124Tyr) c.424C>T (p.His142Tyr) | dbSNP |
| 19 | g.49016118G>C | CA406777068 | LHB | c.376C>G (p.His126Asp) n.467C>G c.370C>G (p.His124Asp) c.424C>G (p.His142Asp) | |
| 19 | g.49016118G= | CA2340186758 | LHB | c.376C= (p.His126=) n.467C= c.370C= (p.His124=) c.424C= (p.His142=) | |
| 19 | g.49016118G>T | CA406777066 | LHB | c.376C>A (p.His126Asn) n.467C>A c.370C>A (p.His124Asn) c.424C>A (p.His142Asn) | |
| 19 | g.49016119G>A | CA508277219 | LHB | c.375C>T (p.Asp125=) n.466C>T c.369C>T (p.Asp123=) c.423C>T (p.Asp141=) | |
| 19 | g.49016119G>C | CA406777071 | LHB | c.375C>G (p.Asp125Glu) n.466C>G c.369C>G (p.Asp123Glu) c.423C>G (p.Asp141Glu) | |
| 19 | g.49016119G>T | CA406777073 | LHB | c.375C>A (p.Asp125Glu) n.466C>A c.369C>A (p.Asp123Glu) c.423C>A (p.Asp141Glu) | gnomAD v4 |
| 19 | g.49016120T>A | CA406777075 | LHB | c.374A>T (p.Asp125Val) n.465A>T c.368A>T (p.Asp123Val) c.422A>T (p.Asp141Val) | |
| 19 | g.49016120T>C | CA406777076 | LHB | c.374A>G (p.Asp125Gly) n.465A>G c.368A>G (p.Asp123Gly) c.422A>G (p.Asp141Gly) | |
| 19 | g.49016120T>G | CA406777078 | LHB | c.374A>C (p.Asp125Ala) n.465A>C c.368A>C (p.Asp123Ala) c.422A>C (p.Asp141Ala) | gnomAD v4 |
| 19 | g.49016121C>A | CA406777080 | LHB | c.373G>T (p.Asp125Tyr) n.464G>T c.367G>T (p.Asp123Tyr) c.421G>T (p.Asp141Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.49016121C= | CA2340186759 | LHB | c.373G= (p.Asp125=) n.464G= c.367G= (p.Asp123=) c.421G= (p.Asp141=) | |
| 19 | g.49016121C>G | CA406777082 | LHB | c.373G>C (p.Asp125His) n.464G>C c.367G>C (p.Asp123His) c.421G>C (p.Asp141His) | |
| 19 | g.49016121C>T | CA309398660 | LHB | c.373G>A (p.Asp125Asn) n.464G>A c.367G>A (p.Asp123Asn) c.421G>A (p.Asp141Asn) | ClinVar dbSNP |
| 19 | g.49016122T>A | CA406777085 | LHB | c.372A>T (p.Lys124Asn) n.463A>T c.366A>T (p.Lys122Asn) c.420A>T (p.Lys140Asn) | gnomAD v4 |
| 19 | g.49016122T>C | CA508277222 | LHB | c.372A>G (p.Lys124=) n.463A>G c.366A>G (p.Lys122=) c.420A>G (p.Lys140=) | dbSNP gnomAD v4 |
| 19 | g.49016122T>G | CA406777086 | LHB | c.372A>C (p.Lys124Asn) n.463A>C c.366A>C (p.Lys122Asn) c.420A>C (p.Lys140Asn) | |
| 19 | g.49016122T= | CA2340186761 | LHB | c.372A= (p.Lys124=) n.463A= c.366A= (p.Lys122=) c.420A= (p.Lys140=) | |
| 19 | g.49016123T>A | CA406777088 | LHB | c.371A>T (p.Lys124Ile) n.462A>T c.365A>T (p.Lys122Ile) c.419A>T (p.Lys140Ile) | |
| 19 | g.49016123T>C | CA406777090 | LHB | c.371A>G (p.Lys124Arg) n.462A>G c.365A>G (p.Lys122Arg) c.419A>G (p.Lys140Arg) |