 |
 |
 |
 |
 |
 |
 |
 |
 |
 |
01 |
c.1A>G (Reported 5 times) |
- |
Substitution |
Initiating methionine |
p.Met1? |
- |
- |
- |
B3GALT6_00028 |
01 |
c.3G>A |
- |
Substitution |
Initiating methionine |
p.Met1? |
- |
- |
- |
B3GALT6_00016 |
01 |
c.16C>T (Reported 2 times) |
- |
Substitution |
Missense |
p.Arg6Trp |
- |
- |
- |
B3GALT6_00007 |
01 |
c.77T>C |
- |
Substitution |
Missense |
p.Leu26Pro |
- |
- |
- |
B3GALT6_00020 |
01 |
c.181G>C |
- |
Substitution |
Missense |
p.Val61Leu |
- |
- |
- |
B3GALT6_00022 |
01 |
c.193A>G |
- |
Substitution |
Missense |
p.Ser65Gly |
- |
- |
- |
B3GALT6_00032 |
01 |
c.197_253del |
- |
Deletion |
In-frame deletion |
p.Ala66_Arg84del |
- |
- |
- |
B3GALT6_00014 |
01 |
c.200C>T (Reported 4 times) |
- |
Substitution |
Missense |
p.Pro67Leu |
- |
- |
- |
B3GALT6_00033 |
01 |
c.227del |
- |
Deletion |
Frameshift |
p.Ile76Thrfs*202 |
- |
- |
- |
B3GALT6_00037 |
01 |
c.235A>G (Reported 8 times) |
- |
Substitution |
Missense |
p.Thr79Ala |
- |
- |
- |
B3GALT6_00034 |
01 |
c.308C>T |
- |
Substitution |
Missense |
p.Ala103Val |
- |
- |
- |
B3GALT6_00026 |
01 |
c.323_344del |
- |
Deletion |
Nonsense |
p.Ala108Glyfs∗163 |
- |
- |
- |
B3GALT6_00002 |
01 |
c.353delA (Reported 2 times) |
- |
Deletion |
Nonsense |
p.Asp118Alafs*160 |
- |
- |
- |
B3GALT6_00004 |
01 |
c.415_423del |
- |
Deletion |
In-frame deletion |
p.Met139Ala141del |
- |
- |
- |
B3GALT6_00008 |
01 |
c.430G>A |
- |
Substitution |
Missense |
p.Asp144Asn |
- |
- |
- |
B3GALT6_00018 |
01 |
c.466G>A |
- |
Substitution |
Missense |
p.Asp156Asn |
- |
- |
- |
B3GALT6_00030 |
01 |
c.476C>A |
- |
Substitution |
Missense |
p.Ser159Tyr |
- |
- |
- |
B3GALT6_00024 |
01 |
c.477del |
- |
Deletion |
Frameshift |
p.Phe160Serfs*118 |
- |
- |
- |
B3GALT6_00012 |
01 |
c.511C>T |
- |
Substitution |
Missense |
p.Arg171Cys |
- |
- |
- |
B3GALT6_00036 |
01 |
c.513_520del (Reported 3 times) |
- |
Deletion |
Frameshift |
p.Glu174Alafs*266 |
- |
- |
- |
B3GALT6_00011 |
01 |
c.536_541dup (Reported 2 times) |
- |
Duplication |
Duplication |
p.Arg179_Arg180dup |
- |
- |
- |
B3GALT6_00025 |
01 |
c.545A>G (Reported 2 times) |
- |
Substitution |
Missense |
p.Tyr182Cys |
- |
- |
- |
B3GALT6_00019 |
01 |
c.556T>C (Reported 6 times) |
- |
Substitution |
Missense |
p.Phe186Leu |
- |
- |
- |
B3GALT6_00023 |
01 |
c.588delG |
- |
Deletion |
Nonsense |
p.Arg197Alafs∗81 |
- |
- |
- |
B3GALT6_00006 |
01 |
c.618C>G (Reported 2 times) |
- |
Substitution |
Missense |
p.Cys206Trp |
- |
- |
- |
B3GALT6_00039 |
01 |
c.619G>C (Reported 3 times) |
- |
Substitution |
Missense |
p.Asp207His |
- |
- |
- |
B3GALT6_00001 |
01 |
c.631C>T |
- |
Substitution |
Missense |
p.Pro211Ser |
- |
- |
- |
B3GALT6_00017 |
01 |
c.649G>A (Reported 2 times) |
- |
Substitution |
Missense |
p.Gly217Ser |
- |
- |
- |
B3GALT6_00003 |
01 |
c.694C>T (Reported 4 times) |
- |
Substitution |
Missense |
p.Arg232Cys |
- |
- |
- |
B3GALT6_00029 |
01 |
c.766C>T |
- |
Substitution |
Missense |
p.Arg256Trp |
- |
- |
- |
B3GALT6_00038 |
01 |
c.782G>A |
- |
Substitution |
Missense |
p.Arg261His |
- |
- |
- |
B3GALT6_00013 |
01 |
c.795A>C (Reported 2 times) |
- |
Substitution |
Missense |
p.Glu265Asp |
- |
- |
- |
B3GALT6_00009 |
01 |
c.808G>A |
- |
Substitution |
Missense |
p.Gly270Ser |
- |
- |
- |
B3GALT6_00021 |
01 |
c.845_846delinsTA (Reported 2 times) |
- |
Insertion/Deletion |
Missense |
p.Ser282Ile |
- |
- |
- |
B3GALT6_00040 |
01 |
c.899G>C |
- |
Substitution |
Missense |
p.Cys300Ser |
- |
- |
- |
B3GALT6_00031 |
01 |
c.901_921dup |
- |
Duplication |
Duplication |
p.Lys301_Arg307dup |
- |
- |
- |
B3GALT6_00035 |
01 |
c.925T>A (Reported 3 times) |
- |
Substitution |
Missense |
p.Ser309Thr |
- |
- |
- |
B3GALT6_00005 |
01 |
c.929A>G |
- |
Substitution |
Missense |
p.Tyr310Cys |
- |
- |
- |
B3GALT6_00010 |
01 |
c.953C>T |
- |
Substitution |
Missense |
p.Pro318Leu |
- |
- |
- |
B3GALT6_00015 |
01 |
c.987_989delCTG |
- |
Deletion |
Frameshift |
p.*330Alaext*72 |
- |
- |
- |
B3GALT6_00027 |