| 1 | g.1232433_1232438dup | CA886925420 | B3GALT6 | c.155_160dup (p.Ala53_Arg54insProAla)
| dbSNP |
| 1 | g.1232433_1232438del | CA2642524274 | B3GALT6 | c.155_160del (p.Pro52_Ala53del)
| gnomAD v4 |
| 1 | g.1232428_1232438del | CA2642524285 | B3GALT6 | c.150_160del (p.Ala51ArgfsTer?)
| gnomAD v4 |
| 1 | g.1232427_1232454del | CA2642524282 | B3GALT6 | c.149_176del (p.Pro50ArgfsTer17)
| gnomAD v4 |
| 1 | g.1232429_1232432del | CA2642524295 | B3GALT6 | c.151_154del (p.Ala51ProfsTer24)
| gnomAD v4 |
| 1 | g.1232435_1232479del | CA2642524290 | B3GALT6 | c.157_201del (p.Ala53_Pro67del)
| gnomAD v4 |
| 1 | g.1232429_1232472del | CA2642524298 | B3GALT6 | c.151_194del (p.Ala51ArgfsTer?)
| gnomAD v4 |
| 1 | g.1232430C>A | CA337822955 | B3GALT6 | c.152C>A (p.Ala51Glu)
| gnomAD v3 gnomAD v4 |
| 1 | g.1232430C>G | CA337822957 | B3GALT6 | c.152C>G (p.Ala51Gly)
| gnomAD v4 |
| 1 | g.1232430C>T | CA337822962 | B3GALT6 | c.152C>T (p.Ala51Val)
| gnomAD v4 |
| 1 | g.1232431G>A | CA415760878 | B3GALT6 | c.153G>A (p.Ala51=)
| gnomAD v4 |
| 1 | g.1232431G>C | CA415760876 | B3GALT6 | c.153G>C (p.Ala51=)
| |
| 1 | g.1232431G>T | CA415760874 | B3GALT6 | c.153G>T (p.Ala51=)
| gnomAD v4 |
| 1 | g.1232432C>A | CA337822970 | B3GALT6 | c.154C>A (p.Pro52Thr)
| gnomAD v3 gnomAD v4 |
| 1 | g.1232432C>G | CA337822982 | B3GALT6 | c.154C>G (p.Pro52Ala)
| |
| 1 | g.1232432C>T | CA337822984 | B3GALT6 | c.154C>T (p.Pro52Ser)
| gnomAD v4 |
| 1 | g.1232434del | CA2642524306 | B3GALT6 | c.156del (p.Ala53ArgfsTer23)
| gnomAD v4 |
| 1 | g.1232433C>A | CA337822986 | B3GALT6 | c.155C>A (p.Pro52His)
| gnomAD v4 |
| 1 | g.1232433C= | CA1148808855 | B3GALT6 | c.155C= (p.Pro52=)
| |
| 1 | g.1232433C>G | CA337822990 | B3GALT6 | c.155C>G (p.Pro52Arg)
| dbSNP gnomAD v4 |
| 1 | g.1232433C>T | CA337822995 | B3GALT6 | c.155C>T (p.Pro52Leu)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232433_1232439delinsCCGCGCG | CA1148808857 | B3GALT6 | c.155_161delinsCCGCGCG (p.Pro52=)
| |
| 1 | g.1232434C>A | CA415760884 | B3GALT6 | c.156C>A (p.Pro52=)
| dbSNP gnomAD v4 |
| 1 | g.1232434C= | CA1148808869 | B3GALT6 | c.156C= (p.Pro52=)
| |
| 1 | g.1232434C>G | CA415760886 | B3GALT6 | c.156C>G (p.Pro52=)
| gnomAD v4 |
| 1 | g.1232434C>T | CA415760887 | B3GALT6 | c.156C>T (p.Pro52=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.1232441_1232442dup | CA1148808864 | B3GALT6 | c.163_164dup (p.Ala56ProfsTer21)
| dbSNP |
| 1 | g.1232439_1232442dup | CA2642524319 | B3GALT6 | c.161_164dup (p.Ala56ArgfsTer?)
| gnomAD v4 |
| 1 | g.1232441_1232442del | CA520658933 | B3GALT6 | c.163_164del (p.Ala55ArgfsTer?)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1232437_1232442del | CA997675960 | B3GALT6 | c.159_164del (p.Arg54_Ala55del)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232435G>A | CA337822998 | B3GALT6 | c.157G>A (p.Ala53Thr)
| gnomAD v4 |
| 1 | g.1232435G>C | CA337823001 | B3GALT6 | c.157G>C (p.Ala53Pro)
| gnomAD v3 gnomAD v4 |
| 1 | g.1232435G>T | CA337823002 | B3GALT6 | c.157G>T (p.Ala53Ser)
| gnomAD v4 |
| 1 | g.1232436C>A | CA337823003 | B3GALT6 | c.158C>A (p.Ala53Glu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1232436C= | CA1148808875 | B3GALT6 | c.158C= (p.Ala53=)
| |
| 1 | g.1232436C>G | CA337823013 | B3GALT6 | c.158C>G (p.Ala53Gly)
| |
| 1 | g.1232436C>T | CA337823004 | B3GALT6 | c.158C>T (p.Ala53Val)
| gnomAD v3 gnomAD v4 |
| 1 | g.1232437G>A | CA16755108 | B3GALT6 | c.159G>A (p.Ala53=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232437G>C | CA415760892 | B3GALT6 | c.159G>C (p.Ala53=)
| |
| 1 | g.1232437G= | CA1148808880 | B3GALT6 | c.159G= (p.Ala53=)
| |
| 1 | g.1232437G>T | CA415760895 | B3GALT6 | c.159G>T (p.Ala53=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.1232438C>A | CA337823015 | B3GALT6 | c.160C>A (p.Arg54Ser)
| gnomAD v4 |
| 1 | g.1232438C= | CA1148808895 | B3GALT6 | c.160C= (p.Arg54=)
| |
| 1 | g.1232438C>G | CA16755111 | B3GALT6 | c.160C>G (p.Arg54Gly)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232438C>T | CA337823045 | B3GALT6 | c.160C>T (p.Arg54Cys)
| dbSNP gnomAD v4 |
| 1 | g.1232448_1232489del | CA2642524333 | B3GALT6 | c.170_211del (p.Ala57_Ala70del)
| gnomAD v4 |
| 1 | g.1232439del | CA2642524336 | B3GALT6 | c.161del (p.Arg54ProfsTer22)
| gnomAD v4 |
| 1 | g.1232439G>A | CA337823049 | B3GALT6 | c.161G>A (p.Arg54His)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232439G>C | CA337823055 | B3GALT6 | c.161G>C (p.Arg54Pro)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232439G= | CA1148808900 | B3GALT6 | c.161G= (p.Arg54=)
| |
| 1 | g.1232439G>T | CA337823059 | B3GALT6 | c.161G>T (p.Arg54Leu)
| gnomAD v4 |
| 1 | g.1232440C>A | CA415760905 | B3GALT6 | c.162C>A (p.Arg54=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.1232440C= | CA1148808914 | B3GALT6 | c.162C= (p.Arg54=)
| |
| 1 | g.1232440C>G | CA415760907 | B3GALT6 | c.162C>G (p.Arg54=)
| gnomAD v4 |
| 1 | g.1232440C>T | CA415760908 | B3GALT6 | c.162C>T (p.Arg54=)
| dbSNP gnomAD v4 |
| 1 | g.1232440dup | CA997675969 | B3GALT6 | c.162dup (p.Ala55ArgfsTer?)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232447_1232449dup | CA520658934 | B3GALT6 | c.169_171dup (p.Ala57_Phe58insAla)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1232441G>A | CA337823063 | B3GALT6 | c.163G>A (p.Ala55Thr)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232441G>C | CA16755121 | B3GALT6 | c.163G>C (p.Ala55Pro)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.1232441G= | CA1148808921 | B3GALT6 | c.163G= (p.Ala55=)
| |
| 1 | g.1232441G>T | CA337823066 | B3GALT6 | c.163G>T (p.Ala55Ser)
| gnomAD v4 |
| 1 | g.1232442C>A | CA337823070 | B3GALT6 | c.164C>A (p.Ala55Asp)
| gnomAD v4 |
| 1 | g.1232442C= | CA1148808923 | B3GALT6 | c.164C= (p.Ala55=)
| |
| 1 | g.1232442C>G | CA337823072 | B3GALT6 | c.164C>G (p.Ala55Gly)
| |
| 1 | g.1232442C>T | CA16755127 | B3GALT6 | c.164C>T (p.Ala55Val)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232442_1232443insAC | CA2642524346 | B3GALT6 | c.164_165insAC (p.Ala56ProfsTer21)
| gnomAD v4 |
| 1 | g.1232443del | CA2642524348 | B3GALT6 | c.165del (p.Ala56ProfsTer20)
| gnomAD v4 |
| 1 | g.1232443C>A | CA415760917 | B3GALT6 | c.165C>A (p.Ala55=)
| gnomAD v4 |
| 1 | g.1232443C= | CA1148808929 | B3GALT6 | c.165C= (p.Ala55=)
| |
| 1 | g.1232443C>G | CA415760919 | B3GALT6 | c.165C>G (p.Ala55=)
| |
| 1 | g.1232443C>T | CA415760918 | B3GALT6 | c.165C>T (p.Ala55=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.1232444del | CA2642524352 | B3GALT6 | c.166del (p.Ala56ProfsTer20)
| gnomAD v4 |
| 1 | g.1232444G>A | CA337823078 | B3GALT6 | c.166G>A (p.Ala56Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1232444G>C | CA337823077 | B3GALT6 | c.166G>C (p.Ala56Pro)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232444G= | CA1148808942 | B3GALT6 | c.166G= (p.Ala56=)
| |
| 1 | g.1232444G>T | CA337823076 | B3GALT6 | c.166G>T (p.Ala56Ser)
| gnomAD v4 |
| 1 | g.1232445C>A | CA337823079 | B3GALT6 | c.167C>A (p.Ala56Asp)
| gnomAD v4 |
| 1 | g.1232445C>G | CA337823080 | B3GALT6 | c.167C>G (p.Ala56Gly)
| |
| 1 | g.1232445C>T | CA337823081 | B3GALT6 | c.167C>T (p.Ala56Val)
| gnomAD v4 |
| 1 | g.1232446del | CA2642524357 | B3GALT6 | c.168del (p.Ala57ProfsTer19)
| gnomAD v4 |
| 1 | g.1232446C>A | CA415760928 | B3GALT6 | c.168C>A (p.Ala56=)
| dbSNP gnomAD v4 |
| 1 | g.1232446C= | CA1148808949 | B3GALT6 | c.168C= (p.Ala56=)
| |
| 1 | g.1232446C>G | CA415760929 | B3GALT6 | c.168C>G (p.Ala56=)
| |
| 1 | g.1232446C>T | CA415760931 | B3GALT6 | c.168C>T (p.Ala56=)
| dbSNP gnomAD v4 |
| 1 | g.1232447G>A | CA337823082 | B3GALT6 | c.169G>A (p.Ala57Thr)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232447G>C | CA337823083 | B3GALT6 | c.169G>C (p.Ala57Pro)
| gnomAD v4 |
| 1 | g.1232447G= | CA1148809030 | B3GALT6 | c.169G= (p.Ala57=)
| |
| 1 | g.1232447G>T | CA337823084 | B3GALT6 | c.169G>T (p.Ala57Ser)
| gnomAD v4 |
| 1 | g.1232448C>A | CA337823126 | B3GALT6 | c.170C>A (p.Ala57Asp)
| gnomAD v4 |
| 1 | g.1232448C>G | CA337823128 | B3GALT6 | c.170C>G (p.Ala57Gly)
| |
| 1 | g.1232448C>T | CA337823129 | B3GALT6 | c.170C>T (p.Ala57Val)
| |
| 1 | g.1232449del | CA2642524361 | B3GALT6 | c.171del (p.Phe58SerfsTer18)
| gnomAD v4 |
| 1 | g.1232449C>A | CA415760937 | B3GALT6 | c.171C>A (p.Ala57=)
| gnomAD v4 |
| 1 | g.1232449C= | CA1148809036 | B3GALT6 | c.171C= (p.Ala57=)
| |
| 1 | g.1232449C>G | CA415760939 | B3GALT6 | c.171C>G (p.Ala57=)
| |
| 1 | g.1232449C>T | CA415760941 | B3GALT6 | c.171C>T (p.Ala57=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232450T>A | CA337823131 | B3GALT6 | c.172T>A (p.Phe58Ile)
| |
| 1 | g.1232450T>C | CA337823132 | B3GALT6 | c.172T>C (p.Phe58Leu)
| gnomAD v4 |
| 1 | g.1232450T>G | CA337823133 | B3GALT6 | c.172T>G (p.Phe58Val)
| |
| 1 | g.1232451T>A | CA337823135 | B3GALT6 | c.173T>A (p.Phe58Tyr)
| gnomAD v4 |
| 1 | g.1232451T>C | CA16755128 | B3GALT6 | c.173T>C (p.Phe58Ser)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232451T>G | CA337823137 | B3GALT6 | c.173T>G (p.Phe58Cys)
| |
| 1 | g.1232451T= | CA1148809045 | B3GALT6 | c.173T= (p.Phe58=)
| |
| 1 | g.1232452C>A | CA337823139 | B3GALT6 | c.174C>A (p.Phe58Leu)
| gnomAD v4 |
| 1 | g.1232452C>G | CA337823141 | B3GALT6 | c.174C>G (p.Phe58Leu)
| |
| 1 | g.1232452C>T | CA415760947 | B3GALT6 | c.174C>T (p.Phe58=)
| gnomAD v4 COSMIC |
| 1 | g.1232452_1232459delinsCCTGGCAG | CA1148809057 | B3GALT6 | c.174_181delinsCCTGGCAG (p.Phe58=)
| |
| 1 | g.1232453C>A | CA337823142 | B3GALT6 | c.175C>A (p.Leu59Met)
| gnomAD v4 |
| 1 | g.1232453C= | CA1148809065 | B3GALT6 | c.175C= (p.Leu59=)
| |
| 1 | g.1232453C>G | CA16755129 | B3GALT6 | c.175C>G (p.Leu59Val)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232453C>T | CA415760953 | B3GALT6 | c.175C>T (p.Leu59=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1232453_1232459del | CA916088828 | B3GALT6 | c.175_181del (p.Leu59CysfsTer15)
| dbSNP gnomAD v4 |
| 1 | g.1232454T>A | CA337823144 | B3GALT6 | c.176T>A (p.Leu59Gln)
| |
| 1 | g.1232454T>C | CA337823148 | B3GALT6 | c.176T>C (p.Leu59Pro)
| gnomAD v4 |
| 1 | g.1232454T>G | CA337823149 | B3GALT6 | c.176T>G (p.Leu59Arg)
| gnomAD v4 |
| 1 | g.1232455G>A | CA16755130 | B3GALT6 | c.177G>A (p.Leu59=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232455G>C | CA415760960 | B3GALT6 | c.177G>C (p.Leu59=)
| |
| 1 | g.1232455G= | CA1148809069 | B3GALT6 | c.177G= (p.Leu59=)
| |
| 1 | g.1232455G>T | CA415760963 | B3GALT6 | c.177G>T (p.Leu59=)
| gnomAD v4 |
| 1 | g.1232456del | CA2568215665 | B3GALT6 | c.178del (p.Ala60GlnfsTer16)
| |
| 1 | g.1232456G>A | CA337823154 | B3GALT6 | c.178G>A (p.Ala60Thr)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.1232456G>C | CA337823161 | B3GALT6 | c.178G>C (p.Ala60Pro)
| |
| 1 | g.1232456G= | CA1148809076 | B3GALT6 | c.178G= (p.Ala60=)
| |
| 1 | g.1232456G>T | CA337823165 | B3GALT6 | c.178G>T (p.Ala60Ser)
| gnomAD v4 |
| 1 | g.1232457C>A | CA337823192 | B3GALT6 | c.179C>A (p.Ala60Glu)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232457C= | CA1148809084 | B3GALT6 | c.179C= (p.Ala60=)
| |
| 1 | g.1232457C>G | CA337823199 | B3GALT6 | c.179C>G (p.Ala60Gly)
| |
| 1 | g.1232457C>T | CA337823200 | B3GALT6 | c.179C>T (p.Ala60Val)
| gnomAD v4 |
| 1 | g.1232458A= | CA1148809098 | B3GALT6 | c.180A= (p.Ala60=)
| |
| 1 | g.1232458A>C | CA415760974 | B3GALT6 | c.180A>C (p.Ala60=)
| |
| 1 | g.1232458A>G | CA10606224 | B3GALT6 | c.180A>G (p.Ala60=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.1232458A>T | CA415760978 | B3GALT6 | c.180A>T (p.Ala60=)
| |
| 1 | g.1232459G>A | CA337823210 | B3GALT6 | c.181G>A (p.Val61Met)
| gnomAD v4 |
| 1 | g.1232459G>C | CA337823220 | B3GALT6 | c.181G>C (p.Val61Leu)
| dbSNP |
| 1 | g.1232459G= | CA1148809112 | B3GALT6 | c.181G= (p.Val61=)
| |
| 1 | g.1232459G>T | CA337823225 | B3GALT6 | c.181G>T (p.Val61Leu)
| gnomAD v4 |
| 1 | g.1232460T>A | CA337823248 | B3GALT6 | c.182T>A (p.Val61Glu)
| gnomAD v4 |
| 1 | g.1232460T>C | CA337823233 | B3GALT6 | c.182T>C (p.Val61Ala)
| gnomAD v4 |
| 1 | g.1232460T>G | CA337823247 | B3GALT6 | c.182T>G (p.Val61Gly)
| |
| 1 | g.1232461del | CA2574217926 | B3GALT6 | c.183del (p.Leu62TrpfsTer14)
| |
| 1 | g.1232461G>A | CA415760984 | B3GALT6 | c.183G>A (p.Val61=)
| gnomAD v4 |
| 1 | g.1232461G>C | CA415760985 | B3GALT6 | c.183G>C (p.Val61=)
| |
| 1 | g.1232461G>T | CA415760986 | B3GALT6 | c.183G>T (p.Val61=)
| gnomAD v4 |
| 1 | g.1232462C>A | CA337823249 | B3GALT6 | c.184C>A (p.Leu62Met)
| gnomAD v4 |
| 1 | g.1232462C>G | CA337823251 | B3GALT6 | c.184C>G (p.Leu62Val)
| gnomAD v4 |
| 1 | g.1232462C>T | CA415760987 | B3GALT6 | c.184C>T (p.Leu62=)
| gnomAD v4 |
| 1 | g.1232463T>A | CA337823255 | B3GALT6 | c.185T>A (p.Leu62Gln)
| |
| 1 | g.1232463T>C | CA337823258 | B3GALT6 | c.185T>C (p.Leu62Pro)
| gnomAD v4 |
| 1 | g.1232463T>G | CA337823260 | B3GALT6 | c.185T>G (p.Leu62Arg)
| |
| 1 | g.1232464G>A | CA415760993 | B3GALT6 | c.186G>A (p.Leu62=)
| gnomAD v4 |
| 1 | g.1232464G>C | CA415760995 | B3GALT6 | c.186G>C (p.Leu62=)
| |
| 1 | g.1232464G>T | CA415760997 | B3GALT6 | c.186G>T (p.Leu62=)
| gnomAD v4 |
| 1 | g.1232465G>A | CA337823264 | B3GALT6 | c.187G>A (p.Val63Met)
| gnomAD v4 |
| 1 | g.1232465G>C | CA16755133 | B3GALT6 | c.187G>C (p.Val63Leu)
| dbSNP gnomAD v4 |
| 1 | g.1232465G= | CA1148809123 | B3GALT6 | c.187G= (p.Val63=)
| |
| 1 | g.1232465G>T | CA337823267 | B3GALT6 | c.187G>T (p.Val63Leu)
| |
| 1 | g.1232466_1232467del | CA2642524389 | B3GALT6 | c.188_189del (p.Val63GlyfsTer?)
| gnomAD v4 |
| 1 | g.1232466T>A | CA337823268 | B3GALT6 | c.188T>A (p.Val63Glu)
| |
| 1 | g.1232466T>C | CA337823269 | B3GALT6 | c.188T>C (p.Val63Ala)
| |
| 1 | g.1232466T>G | CA337823270 | B3GALT6 | c.188T>G (p.Val63Gly)
| |
| 1 | g.1232467G>A | CA415761015 | B3GALT6 | c.189G>A (p.Val63=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1232467G>C | CA415761011 | B3GALT6 | c.189G>C (p.Val63=)
| |
| 1 | g.1232467G= | CA1148809132 | B3GALT6 | c.189G= (p.Val63=)
| |
| 1 | g.1232467G>T | CA415761007 | B3GALT6 | c.189G>T (p.Val63=)
| gnomAD v4 |
| 1 | g.1232468G>A | CA337823307 | B3GALT6 | c.190G>A (p.Ala64Thr)
| gnomAD v4 |
| 1 | g.1232468G>C | CA337823306 | B3GALT6 | c.190G>C (p.Ala64Pro)
| gnomAD v4 |
| 1 | g.1232468G= | CA1148809140 | B3GALT6 | c.190G= (p.Ala64=)
| |
| 1 | g.1232468G>T | CA337823305 | B3GALT6 | c.190G>T (p.Ala64Ser)
| dbSNP gnomAD v4 |
| 1 | g.1232469C>A | CA337823308 | B3GALT6 | c.191C>A (p.Ala64Asp)
| gnomAD v4 |
| 1 | g.1232469C= | CA1148809148 | B3GALT6 | c.191C= (p.Ala64=)
| |
| 1 | g.1232469C>G | CA337823309 | B3GALT6 | c.191C>G (p.Ala64Gly)
| gnomAD v4 |
| 1 | g.1232469C>T | CA337823311 | B3GALT6 | c.191C>T (p.Ala64Val)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232470del | CA2642524400 | B3GALT6 | c.192del (p.Ser65AlafsTer11)
| gnomAD v4 |
| 1 | g.1232470C>A | CA415761023 | B3GALT6 | c.192C>A (p.Ala64=)
| gnomAD v4 |
| 1 | g.1232470C= | CA1148809182 | B3GALT6 | c.192C= (p.Ala64=)
| |
| 1 | g.1232470C>G | CA415761024 | B3GALT6 | c.192C>G (p.Ala64=)
| |
| 1 | g.1232470C>T | CA415761026 | B3GALT6 | c.192C>T (p.Ala64=)
| dbSNP gnomAD v4 |
| 1 | g.1232471A= | CA1144228640 | B3GALT6 | c.193A= (p.Ser65=)
| |
| 1 | g.1232471A>C | CA337823315 | B3GALT6 | c.193A>C (p.Ser65Arg)
| |
| 1 | g.1232471A>G | CA144526 | B3GALT6 | c.193A>G (p.Ser65Gly)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.1232471A>T | CA337823350 | B3GALT6 | c.193A>T (p.Ser65Cys)
| ClinVar |
| 1 | g.1232471_1232528delinsAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGC | CA1148809196 | B3GALT6 | c.193_250delinsAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGC (p.Ser65=)
| |
| 1 | g.1232472G>A | CA337823354 | B3GALT6 | c.194G>A (p.Ser65Asn)
| gnomAD v4 |
| 1 | g.1232472G>C | CA337823366 | B3GALT6 | c.194G>C (p.Ser65Thr)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.1232472G>T | CA337823368 | B3GALT6 | c.194G>T (p.Ser65Ile)
| gnomAD v4 |
| 1 | g.1232476_1232477del | CA2642524410 | B3GALT6 | c.198_199del (p.Ala69ArgfsTer?)
| gnomAD v4 |
| 1 | g.1232477_1232526del | CA997676001 | B3GALT6 | c.199_248del (p.Pro67AlafsTer?)
| gnomAD v3 gnomAD v4 |
| 1 | g.1232475_1232531del | CA913204375 | B3GALT6 | c.197_253del (p.Ala66_Arg84del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1232473C>A | CA337823370 | B3GALT6 | c.195C>A (p.Ser65Arg)
| gnomAD v4 |
| 1 | g.1232473C= | CA1146274508 | B3GALT6 | c.195C= (p.Ser65=)
| |
| 1 | g.1232473C>G | CA337823373 | B3GALT6 | c.195C>G (p.Ser65Arg)
| |
| 1 | g.1232473C>T | CA16755154 | B3GALT6 | c.195C>T (p.Ser65=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232474G>A | CA337823391 | B3GALT6 | c.196G>A (p.Ala66Thr)
| gnomAD v4 |
| 1 | g.1232474G>C | CA337823387 | B3GALT6 | c.196G>C (p.Ala66Pro)
| gnomAD v4 |
| 1 | g.1232474G>T | CA337823381 | B3GALT6 | c.196G>T (p.Ala66Ser)
| gnomAD v4 |
| 1 | g.1232475C>A | CA337823393 | B3GALT6 | c.197C>A (p.Ala66Glu)
| gnomAD v4 |
| 1 | g.1232475C>G | CA337823398 | B3GALT6 | c.197C>G (p.Ala66Gly)
| |
| 1 | g.1232475C>T | CA337823400 | B3GALT6 | c.197C>T (p.Ala66Val)
| gnomAD v4 |
| 1 | g.1232479_1232488del | CA2573051355 | B3GALT6 | c.201_210del (p.Arg68SerfsTer5)
| ClinVar dbSNP |
| 1 | g.1232476G>A | CA415761043 | B3GALT6 | c.198G>A (p.Ala66=)
| ClinVar gnomAD v4 |
| 1 | g.1232476G>C | CA415761044 | B3GALT6 | c.198G>C (p.Ala66=)
| |
| 1 | g.1232476G= | CA1148809207 | B3GALT6 | c.198G= (p.Ala66=)
| |
| 1 | g.1232476G>T | CA415761045 | B3GALT6 | c.198G>T (p.Ala66=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232476_1232477insGC | CA2573320563 | B3GALT6 | c.198_199insGC (p.Pro67AlafsTer10)
| |
| 1 | g.1232476_1232477insGCCCCCCCCCCCC | CA1139768734 | B3GALT6 | c.198_199insGCCCCCCCCCCCC (p.Pro67AlafsTer?)
| |
| 1 | g.1232476_1232477insGCCCCCCCCCCCCC | CA2573051211 | B3GALT6 | c.198_199insGCCCCCCCCCCCCC (p.Pro67AlafsTer14)
| |
| 1 | g.1232477C>A | CA337823417 | B3GALT6 | c.199C>A (p.Pro67Thr)
| ClinVar gnomAD v4 |
| 1 | g.1232477C>G | CA337823418 | B3GALT6 | c.199C>G (p.Pro67Ala)
| |
| 1 | g.1232477C>T | CA337823419 | B3GALT6 | c.199C>T (p.Pro67Ser)
| ClinVar gnomAD v4 |
| 1 | g.1232480_1232481insCCCCCCCCCC | CA2499213998 | B3GALT6 | c.202_203insCCCCCCCCCC (p.Arg68ProfsTer?)
| |
| 1 | g.1232480_1232481insCCCCCCCCCCCCC | CA1139770254 | B3GALT6 | c.202_203insCCCCCCCCCCCCC (p.Arg68ProfsTer?)
| |
| 1 | g.1232480_1232481insCCCCCCCCCCCCCCCCC | CA2499307163 | B3GALT6 | c.202_203insCCCCCCCCCCCCCCCCC (p.Arg68ProfsTer14)
| |
| 1 | g.1232480del | CA2642524421 | B3GALT6 | c.202del (p.Arg68AlafsTer8)
| gnomAD v4 |
| 1 | g.1232478C>A | CA337823420 | B3GALT6 | c.200C>A (p.Pro67His)
| |
| 1 | g.1232478C= | CA1144228641 | B3GALT6 | c.200C= (p.Pro67=)
| |
| 1 | g.1232478C>G | CA337823421 | B3GALT6 | c.200C>G (p.Pro67Arg)
| |
| 1 | g.1232478C>T | CA144527 | B3GALT6 | c.200C>T (p.Pro67Leu)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.1232479C>A | CA415761054 | B3GALT6 | c.201C>A (p.Pro67=)
| gnomAD v4 |
| 1 | g.1232479C>G | CA415761057 | B3GALT6 | c.201C>G (p.Pro67=)
| gnomAD v4 |
| 1 | g.1232479C>T | CA415761058 | B3GALT6 | c.201C>T (p.Pro67=)
| gnomAD v4 |
| 1 | g.1232479_1232480insG | CA2642524436 | B3GALT6 | c.201_202insG (p.Arg68AlafsTer?)
| gnomAD v4 |
| 1 | g.1232480C>A | CA337823424 | B3GALT6 | c.202C>A (p.Arg68Ser)
| dbSNP gnomAD v4 |
| 1 | g.1232480C>G | CA337823425 | B3GALT6 | c.202C>G (p.Arg68Gly)
| ClinVar |
| 1 | g.1232480C>T | CA337823432 | B3GALT6 | c.202C>T (p.Arg68Cys)
| gnomAD v4 |
| 1 | g.1232481G>A | CA337823437 | B3GALT6 | c.203G>A (p.Arg68His)
| gnomAD v4 |
| 1 | g.1232481G>C | CA337823436 | B3GALT6 | c.203G>C (p.Arg68Pro)
| ClinVar |
| 1 | g.1232481G>T | CA337823434 | B3GALT6 | c.203G>T (p.Arg68Leu)
| gnomAD v4 |
| 1 | g.1232488_1232497del | CA2642524438 | B3GALT6 | c.210_219del (p.Glu71AlafsTer2)
| gnomAD v4 |
| 1 | g.1232482C>A | CA415761071 | B3GALT6 | c.204C>A (p.Arg68=)
| gnomAD v4 |
| 1 | g.1232482C= | CA1148809230 | B3GALT6 | c.204C= (p.Arg68=)
| |
| 1 | g.1232482C>G | CA415761069 | B3GALT6 | c.204C>G (p.Arg68=)
| |
| 1 | g.1232482C>T | CA415761073 | B3GALT6 | c.204C>T (p.Arg68=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1232483G>A | CA337823439 | B3GALT6 | c.205G>A (p.Ala69Thr)
| gnomAD v4 |
| 1 | g.1232483G>C | CA337823442 | B3GALT6 | c.205G>C (p.Ala69Pro)
| |
| 1 | g.1232483G= | CA1148809235 | B3GALT6 | c.205G= (p.Ala69=)
| |
| 1 | g.1232483G>T | CA337823441 | B3GALT6 | c.205G>T (p.Ala69Ser)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232484C>A | CA337823444 | B3GALT6 | c.206C>A (p.Ala69Asp)
| gnomAD v4 |
| 1 | g.1232484C= | CA1148809260 | B3GALT6 | c.206C= (p.Ala69=)
| |
| 1 | g.1232484C>G | CA337823445 | B3GALT6 | c.206C>G (p.Ala69Gly)
| |
| 1 | g.1232484C>T | CA337823446 | B3GALT6 | c.206C>T (p.Ala69Val)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232485C>A | CA415761085 | B3GALT6 | c.207C>A (p.Ala69=)
| gnomAD v4 |
| 1 | g.1232485C= | CA1148809270 | B3GALT6 | c.207C= (p.Ala69=)
| |
| 1 | g.1232485C>G | CA415761088 | B3GALT6 | c.207C>G (p.Ala69=)
| |
| 1 | g.1232485C>T | CA415761089 | B3GALT6 | c.207C>T (p.Ala69=)
| dbSNP gnomAD v4 |
| 1 | g.1232486G>A | CA337823447 | B3GALT6 | c.208G>A (p.Ala70Thr)
| dbSNP gnomAD v4 |
| 1 | g.1232486G>C | CA337823449 | B3GALT6 | c.208G>C (p.Ala70Pro)
| |
| 1 | g.1232486G= | CA1148809293 | B3GALT6 | c.208G= (p.Ala70=)
| |
| 1 | g.1232486G>T | CA337823453 | B3GALT6 | c.208G>T (p.Ala70Ser)
| dbSNP gnomAD v4 |
| 1 | g.1232487C>A | CA337823454 | B3GALT6 | c.209C>A (p.Ala70Asp)
| gnomAD v4 |
| 1 | g.1232487C= | CA1148809297 | B3GALT6 | c.209C= (p.Ala70=)
| |
| 1 | g.1232487C>G | CA337823456 | B3GALT6 | c.209C>G (p.Ala70Gly)
| |
| 1 | g.1232487C>T | CA337823457 | B3GALT6 | c.209C>T (p.Ala70Val)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232488C>A | CA415761103 | B3GALT6 | c.210C>A (p.Ala70=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232488C= | CA1148809316 | B3GALT6 | c.210C= (p.Ala70=)
| |
| 1 | g.1232488C>G | CA415761105 | B3GALT6 | c.210C>G (p.Ala70=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1232488C>T | CA415761107 | B3GALT6 | c.210C>T (p.Ala70=)
| gnomAD v4 |
| 1 | g.1232489_1232519dup | CA2642524451 | B3GALT6 | c.211_241dup (p.Leu81ArgfsTer?)
| gnomAD v4 |
| 1 | g.1232489G>A | CA337823458 | B3GALT6 | c.211G>A (p.Glu71Lys)
| gnomAD v4 |
| 1 | g.1232489G>C | CA337823459 | B3GALT6 | c.211G>C (p.Glu71Gln)
| |
| 1 | g.1232489G= | CA1148809324 | B3GALT6 | c.211G= (p.Glu71=)
| |
| 1 | g.1232489G>T | CA337823460 | B3GALT6 | c.211G>T (p.Glu71Ter)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.1232489_1232493del | CA2573129751 | B3GALT6 | c.211_215del (p.Glu71ProfsTer?)
| |
| 1 | g.1232490A= | CA1148809332 | B3GALT6 | c.212A= (p.Glu71=)
| |
| 1 | g.1232490A>C | CA337823463 | B3GALT6 | c.212A>C (p.Glu71Ala)
| gnomAD v4 |
| 1 | g.1232490A>G | CA337823461 | B3GALT6 | c.212A>G (p.Glu71Gly)
| dbSNP gnomAD v4 |
| 1 | g.1232490A>T | CA337823462 | B3GALT6 | c.212A>T (p.Glu71Val)
| |
| 1 | g.1232491G>A | CA415761124 | B3GALT6 | c.213G>A (p.Glu71=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232491G>C | CA337823464 | B3GALT6 | c.213G>C (p.Glu71Asp)
| |
| 1 | g.1232491G= | CA1148809346 | B3GALT6 | c.213G= (p.Glu71=)
| |
| 1 | g.1232491G>T | CA337823465 | B3GALT6 | c.213G>T (p.Glu71Asp)
| |
| 1 | g.1232491_1232505dup | CA520658935 | B3GALT6 | c.213_227dup (p.Val75_Ile76insMetArgArgSerVal)
| dbSNP gnomAD v2 |
| 1 | g.1232492C>A | CA337823467 | B3GALT6 | c.214C>A (p.Arg72Ser)
| gnomAD v4 |
| 1 | g.1232492C= | CA1148809357 | B3GALT6 | c.214C= (p.Arg72=)
| |
| 1 | g.1232492C>G | CA337823470 | B3GALT6 | c.214C>G (p.Arg72Gly)
| |
| 1 | g.1232492C>T | CA337823472 | B3GALT6 | c.214C>T (p.Arg72Cys)
| dbSNP gnomAD v4 |
| 1 | g.1232495_1232509dup | CA997676025 | B3GALT6 | c.217_231dup (p.Arg77_Ser78insArgSerValIleArg)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232493G>A | CA337823473 | B3GALT6 | c.215G>A (p.Arg72His)
| gnomAD v4 |
| 1 | g.1232493G>C | CA337823475 | B3GALT6 | c.215G>C (p.Arg72Pro)
| |
| 1 | g.1232493G>T | CA337823478 | B3GALT6 | c.215G>T (p.Arg72Leu)
| gnomAD v4 |
| 1 | g.1232494C>A | CA415761126 | B3GALT6 | c.216C>A (p.Arg72=)
| |
| 1 | g.1232494C>G | CA415761136 | B3GALT6 | c.216C>G (p.Arg72=)
| |
| 1 | g.1232494C>T | CA415761138 | B3GALT6 | c.216C>T (p.Arg72=)
| gnomAD v4 |
| 1 | g.1232495C>A | CA337823482 | B3GALT6 | c.217C>A (p.Arg73Ser)
| gnomAD v4 |
| 1 | g.1232495C= | CA1148809370 | B3GALT6 | c.217C= (p.Arg73=)
| |
| 1 | g.1232495C>G | CA337823483 | B3GALT6 | c.217C>G (p.Arg73Gly)
| |
| 1 | g.1232495C>T | CA337823484 | B3GALT6 | c.217C>T (p.Arg73Cys)
| dbSNP gnomAD v4 |
| 1 | g.1232496G>A | CA337823488 | B3GALT6 | c.218G>A (p.Arg73His)
| gnomAD v3 gnomAD v4 |
| 1 | g.1232496G>C | CA337823487 | B3GALT6 | c.218G>C (p.Arg73Pro)
| |
| 1 | g.1232496G= | CA1148809384 | B3GALT6 | c.218G= (p.Arg73=)
| |
| 1 | g.1232496G>T | CA337823485 | B3GALT6 | c.218G>T (p.Arg73Leu)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232497C>A | CA415761145 | B3GALT6 | c.219C>A (p.Arg73=)
| gnomAD v4 |
| 1 | g.1232497C>G | CA415761146 | B3GALT6 | c.219C>G (p.Arg73=)
| gnomAD v4 |
| 1 | g.1232497C>T | CA415761152 | B3GALT6 | c.219C>T (p.Arg73=)
| gnomAD v4 |
| 1 | g.1232498A>C | CA337823490 | B3GALT6 | c.220A>C (p.Ser74Arg)
| |
| 1 | g.1232498A>G | CA337823492 | B3GALT6 | c.220A>G (p.Ser74Gly)
| gnomAD v4 |
| 1 | g.1232498A>T | CA337823493 | B3GALT6 | c.220A>T (p.Ser74Cys)
| ClinVar |
| 1 | g.1232499G>A | CA337823496 | B3GALT6 | c.221G>A (p.Ser74Asn)
| |
| 1 | g.1232499G>C | CA337823498 | B3GALT6 | c.221G>C (p.Ser74Thr)
| gnomAD v4 |
| 1 | g.1232499G>T | CA337823503 | B3GALT6 | c.221G>T (p.Ser74Ile)
| gnomAD v4 |
| 1 | g.1232500C>A | CA337823508 | B3GALT6 | c.222C>A (p.Ser74Arg)
| gnomAD v4 |
| 1 | g.1232500C>G | CA337823506 | B3GALT6 | c.222C>G (p.Ser74Arg)
| gnomAD v4 |
| 1 | g.1232500C>T | CA415761162 | B3GALT6 | c.222C>T (p.Ser74=)
| gnomAD v4 |
| 1 | g.1232501G>A | CA337823510 | B3GALT6 | c.223G>A (p.Val75Met)
| gnomAD v4 |
| 1 | g.1232501G>C | CA337823511 | B3GALT6 | c.223G>C (p.Val75Leu)
| |
| 1 | g.1232501G>T | CA337823513 | B3GALT6 | c.223G>T (p.Val75Leu)
| dbSNP |
| 1 | g.1232502T>A | CA337823519 | B3GALT6 | c.224T>A (p.Val75Glu)
| |
| 1 | g.1232502T>C | CA337823520 | B3GALT6 | c.224T>C (p.Val75Ala)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.1232502T>G | CA337823523 | B3GALT6 | c.224T>G (p.Val75Gly)
| |
| 1 | g.1232502T= | CA1148809410 | B3GALT6 | c.224T= (p.Val75=)
| |
| 1 | g.1232503G>A | CA415761167 | B3GALT6 | c.225G>A (p.Val75=)
| gnomAD v4 |
| 1 | g.1232503G>C | CA415761168 | B3GALT6 | c.225G>C (p.Val75=)
| dbSNP gnomAD v4 |
| 1 | g.1232503G= | CA1148809412 | B3GALT6 | c.225G= (p.Val75=)
| |
| 1 | g.1232503G>T | CA415761169 | B3GALT6 | c.225G>T (p.Val75=)
| |
| 1 | g.1232504_1232515dup | CA2642524493 | B3GALT6 | c.226_237dup (p.Thr79_Trp80insIleArgSerThr)
| gnomAD v4 |
| 1 | g.1232504A>C | CA337823526 | B3GALT6 | c.226A>C (p.Ile76Leu)
| |
| 1 | g.1232504A>G | CA337823540 | B3GALT6 | c.226A>G (p.Ile76Val)
| gnomAD v4 |
| 1 | g.1232504A>T | CA337823538 | B3GALT6 | c.226A>T (p.Ile76Phe)
| gnomAD v4 |
| 1 | g.1232504_1232505delinsAT | CA1148809416 | B3GALT6 | c.226_227delinsAT (p.Ile76=)
| |
| 1 | g.1232505del | CA1148809425 | B3GALT6 | c.227del (p.Ile76ThrfsTer?)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.1232505T>A | CA337823542 | B3GALT6 | c.227T>A (p.Ile76Asn)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232505T>C | CA337823544 | B3GALT6 | c.227T>C (p.Ile76Thr)
| gnomAD v4 |
| 1 | g.1232505T>G | CA337823545 | B3GALT6 | c.227T>G (p.Ile76Ser)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.1232505T= | CA1148809424 | B3GALT6 | c.227T= (p.Ile76=)
| |
| 1 | g.1232506C>A | CA415761175 | B3GALT6 | c.228C>A (p.Ile76=)
| gnomAD v4 |
| 1 | g.1232506C= | CA1148809440 | B3GALT6 | c.228C= (p.Ile76=)
| |
| 1 | g.1232506C>G | CA337823550 | B3GALT6 | c.228C>G (p.Ile76Met)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.1232506C>T | CA415761177 | B3GALT6 | c.228C>T (p.Ile76=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232507C>A | CA337823551 | B3GALT6 | c.229C>A (p.Arg77Ser)
| gnomAD v4 |
| 1 | g.1232507C>G | CA337823552 | B3GALT6 | c.229C>G (p.Arg77Gly)
| gnomAD v4 |
| 1 | g.1232507C>T | CA337823555 | B3GALT6 | c.229C>T (p.Arg77Cys)
| |
| 1 | g.1232508G>A | CA337823556 | B3GALT6 | c.230G>A (p.Arg77His)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1232508G>C | CA337823558 | B3GALT6 | c.230G>C (p.Arg77Pro)
| gnomAD v4 |
| 1 | g.1232508G= | CA1148809450 | B3GALT6 | c.230G= (p.Arg77=)
| |
| 1 | g.1232508G>T | CA337823559 | B3GALT6 | c.230G>T (p.Arg77Leu)
| gnomAD v4 |
| 1 | g.1232509C>A | CA415761182 | B3GALT6 | c.231C>A (p.Arg77=)
| gnomAD v4 |
| 1 | g.1232509C>G | CA415761184 | B3GALT6 | c.231C>G (p.Arg77=)
| |
| 1 | g.1232509C>T | CA415761185 | B3GALT6 | c.231C>T (p.Arg77=)
| |
| 1 | g.1232510A>C | CA337823561 | B3GALT6 | c.232A>C (p.Ser78Arg)
| |
| 1 | g.1232510A>G | CA337823565 | B3GALT6 | c.232A>G (p.Ser78Gly)
| |
| 1 | g.1232510A>T | CA337823563 | B3GALT6 | c.232A>T (p.Ser78Cys)
| |
| 1 | g.1232511G>A | CA337823570 | B3GALT6 | c.233G>A (p.Ser78Asn)
| gnomAD v4 |
| 1 | g.1232511G>C | CA337823577 | B3GALT6 | c.233G>C (p.Ser78Thr)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232511G= | CA1148809453 | B3GALT6 | c.233G= (p.Ser78=)
| |
| 1 | g.1232511G>T | CA337823576 | B3GALT6 | c.233G>T (p.Ser78Ile)
| |
| 1 | g.1232512C>A | CA337823578 | B3GALT6 | c.234C>A (p.Ser78Arg)
| gnomAD v4 |
| 1 | g.1232512C= | CA1148809461 | B3GALT6 | c.234C= (p.Ser78=)
| |
| 1 | g.1232512C>G | CA337823580 | B3GALT6 | c.234C>G (p.Ser78Arg)
| gnomAD v4 |
| 1 | g.1232512C>T | CA415761191 | B3GALT6 | c.234C>T (p.Ser78=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1232513A= | CA1148809485 | B3GALT6 | c.235A= (p.Thr79=)
| |
| 1 | g.1232513A>C | CA337823581 | B3GALT6 | c.235A>C (p.Thr79Pro)
| |
| 1 | g.1232513A>G | CA337823582 | B3GALT6 | c.235A>G (p.Thr79Ala)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.1232513A>T | CA337823583 | B3GALT6 | c.235A>T (p.Thr79Ser)
| |
| 1 | g.1232514C>A | CA337823584 | B3GALT6 | c.236C>A (p.Thr79Lys)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232514C= | CA1148809488 | B3GALT6 | c.236C= (p.Thr79=)
| |
| 1 | g.1232514C>G | CA337823585 | B3GALT6 | c.236C>G (p.Thr79Arg)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.1232514C>T | CA337823589 | B3GALT6 | c.236C>T (p.Thr79Met)
| gnomAD v4 |
| 1 | g.1232515G>A | CA415761197 | B3GALT6 | c.237G>A (p.Thr79=)
| gnomAD v4 |
| 1 | g.1232515G>C | CA415761199 | B3GALT6 | c.237G>C (p.Thr79=)
| |
| 1 | g.1232515G= | CA1148809493 | B3GALT6 | c.237G= (p.Thr79=)
| |
| 1 | g.1232515G>T | CA415761201 | B3GALT6 | c.237G>T (p.Thr79=)
| dbSNP gnomAD v4 |
| 1 | g.1232516T>A | CA337823600 | B3GALT6 | c.238T>A (p.Trp80Arg)
| |
| 1 | g.1232516T>C | CA337823599 | B3GALT6 | c.238T>C (p.Trp80Arg)
| |
| 1 | g.1232516T>G | CA337823591 | B3GALT6 | c.238T>G (p.Trp80Gly)
| |
| 1 | g.1232517G>A | CA337823610 | B3GALT6 | c.239G>A (p.Trp80Ter)
| ClinVar dbSNP |
| 1 | g.1232517G>C | CA337823614 | B3GALT6 | c.239G>C (p.Trp80Ser)
| |
| 1 | g.1232517G= | CA1148809495 | B3GALT6 | c.239G= (p.Trp80=)
| |
| 1 | g.1232517G>T | CA337823615 | B3GALT6 | c.239G>T (p.Trp80Leu)
| gnomAD v4 |
| 1 | g.1232518G>A | CA337823616 | B3GALT6 | c.240G>A (p.Trp80Ter)
| gnomAD v4 |
| 1 | g.1232518G>C | CA337823618 | B3GALT6 | c.240G>C (p.Trp80Cys)
| dbSNP gnomAD v4 |
| 1 | g.1232518G>T | CA337823620 | B3GALT6 | c.240G>T (p.Trp80Cys)
| gnomAD v4 |
| 1 | g.1232519C>A | CA337823634 | B3GALT6 | c.241C>A (p.Leu81Ile)
| |
| 1 | g.1232519C>G | CA337823650 | B3GALT6 | c.241C>G (p.Leu81Val)
| |
| 1 | g.1232519C>T | CA337823638 | B3GALT6 | c.241C>T (p.Leu81Phe)
| gnomAD v4 |
| 1 | g.1232520T>A | CA337823656 | B3GALT6 | c.242T>A (p.Leu81His)
| |
| 1 | g.1232520T>C | CA337823657 | B3GALT6 | c.242T>C (p.Leu81Pro)
| |
| 1 | g.1232520T>G | CA337823658 | B3GALT6 | c.242T>G (p.Leu81Arg)
| |
| 1 | g.1232521T>A | CA415761213 | B3GALT6 | c.243T>A (p.Leu81=)
| |
| 1 | g.1232521T>C | CA415761212 | B3GALT6 | c.243T>C (p.Leu81=)
| gnomAD v4 |
| 1 | g.1232521T>G | CA415761210 | B3GALT6 | c.243T>G (p.Leu81=)
| |
| 1 | g.1232522G>A | CA337823659 | B3GALT6 | c.244G>A (p.Ala82Thr)
| gnomAD v4 |
| 1 | g.1232522G>C | CA337823660 | B3GALT6 | c.244G>C (p.Ala82Pro)
| |
| 1 | g.1232522G>T | CA337823661 | B3GALT6 | c.244G>T (p.Ala82Ser)
| |
| 1 | g.1232529_1232624del | CA2642524514 | B3GALT6 | c.251_346del (p.Arg84_Arg115del)
| gnomAD v4 |
| 1 | g.1232523C>A | CA337823662 | B3GALT6 | c.245C>A (p.Ala82Glu)
| gnomAD v4 |
| 1 | g.1232523C>G | CA337823663 | B3GALT6 | c.245C>G (p.Ala82Gly)
| |
| 1 | g.1232523C>T | CA337823664 | B3GALT6 | c.245C>T (p.Ala82Val)
| gnomAD v4 |
| 1 | g.1232524G>A | CA415761215 | B3GALT6 | c.246G>A (p.Ala82=)
| dbSNP gnomAD v4 |
| 1 | g.1232524G>C | CA415761217 | B3GALT6 | c.246G>C (p.Ala82=)
| gnomAD v4 |
| 1 | g.1232524G= | CA1148809501 | B3GALT6 | c.246G= (p.Ala82=)
| |
| 1 | g.1232524G>T | CA415761218 | B3GALT6 | c.246G>T (p.Ala82=)
| |
| 1 | g.1232525del | CA2642524518 | B3GALT6 | c.247del (p.Arg83GlyfsTer?)
| gnomAD v4 |
| 1 | g.1232525C>A | CA415761219 | B3GALT6 | c.247C>A (p.Arg83=)
| |
| 1 | g.1232525C= | CA1148809523 | B3GALT6 | c.247C= (p.Arg83=)
| |
| 1 | g.1232525C>G | CA337823665 | B3GALT6 | c.247C>G (p.Arg83Gly)
| |
| 1 | g.1232525C>T | CA337823667 | B3GALT6 | c.247C>T (p.Arg83Trp)
| dbSNP gnomAD v4 |
| 1 | g.1232526G>A | CA337823669 | B3GALT6 | c.248G>A (p.Arg83Gln)
| gnomAD v4 |
| 1 | g.1232526G>C | CA337823674 | B3GALT6 | c.248G>C (p.Arg83Pro)
| gnomAD v4 |
| 1 | g.1232526G>T | CA337823670 | B3GALT6 | c.248G>T (p.Arg83Leu)
| |
| 1 | g.1232527G>A | CA415761223 | B3GALT6 | c.249G>A (p.Arg83=)
| gnomAD v4 |
| 1 | g.1232527G>C | CA415761224 | B3GALT6 | c.249G>C (p.Arg83=)
| |
| 1 | g.1232527G= | CA1148809526 | B3GALT6 | c.249G= (p.Arg83=)
| |
| 1 | g.1232527G>T | CA415761226 | B3GALT6 | c.249G>T (p.Arg83=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232528C>A | CA337823677 | B3GALT6 | c.250C>A (p.Arg84Ser)
| gnomAD v4 |
| 1 | g.1232528C>G | CA337823679 | B3GALT6 | c.250C>G (p.Arg84Gly)
| gnomAD v4 |
| 1 | g.1232528C>T | CA337823688 | B3GALT6 | c.250C>T (p.Arg84Cys)
| gnomAD v3 gnomAD v4 |
| 1 | g.1232529G>A | CA337823690 | B3GALT6 | c.251G>A (p.Arg84His)
| gnomAD v4 |
| 1 | g.1232529G>C | CA337823693 | B3GALT6 | c.251G>C (p.Arg84Pro)
| dbSNP |
| 1 | g.1232529G= | CA1148809529 | B3GALT6 | c.251G= (p.Arg84=)
| |
| 1 | g.1232529G>T | CA337823695 | B3GALT6 | c.251G>T (p.Arg84Leu)
| gnomAD v4 |
| 1 | g.1232530C>A | CA415761230 | B3GALT6 | c.252C>A (p.Arg84=)
| gnomAD v4 |
| 1 | g.1232530C= | CA1148809536 | B3GALT6 | c.252C= (p.Arg84=)
| |
| 1 | g.1232530C>G | CA415761232 | B3GALT6 | c.252C>G (p.Arg84=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.1232530C>T | CA16755166 | B3GALT6 | c.252C>T (p.Arg84=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232530_1232531delinsCG | CA1148809540 | B3GALT6 | c.252_253delinsCG (p.Arg84=)
| |
| 1 | g.1232535_1232630del | CA2642524528 | B3GALT6 | c.257_352del (p.Ala86_Gly117del)
| gnomAD v4 |
