1 | g.1232529_1232624del | CA2642524514 | B3GALT6 | c.251_346del (p.Arg84_Arg115del)
| gnomAD v4 |
1 | g.1232535_1232630del | CA2642524528 | B3GALT6 | c.257_352del (p.Ala86_Gly117del)
| gnomAD v4 |
1 | g.1232538_1232633del | CA2642524554 | B3GALT6 | c.260_355del (p.Pro87_Asp118del)
| gnomAD v4 |
1 | g.1232597_1232611del | CA1148809944 | B3GALT6 | c.319_333del (p.Arg107_Arg111del)
| dbSNP |
1 | g.1232594_1232616delinsCGGCGCGCCCTGGAGCGGGAGCA | CA1148809970 | B3GALT6 | c.316_338delinsCGGCGCGCCCTGGAGCGGGAGCA (p.Arg106=)
| |
1 | g.1232601_1232622del | CA144536 | B3GALT6 | c.323_344del (p.Ala108GlyfsTer?)
| ClinVar dbSNP |
1 | g.1232609_1232610del | CA2642524737 | B3GALT6 | c.331_332del (p.Arg111GlyfsTer?)
| gnomAD v4 |
1 | g.1232609C>A | CA415761507 | B3GALT6 | c.331C>A (p.Arg111=)
| ClinVar gnomAD v4 |
1 | g.1232609C= | CA1148810046 | B3GALT6 | c.331C= (p.Arg111=)
| |
1 | g.1232609C>G | CA337824490 | B3GALT6 | c.331C>G (p.Arg111Gly)
| gnomAD v4 |
1 | g.1232609C>T | CA337824491 | B3GALT6 | c.331C>T (p.Arg111Trp)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.1232610G>A | CA337824528 | B3GALT6 | c.332G>A (p.Arg111Gln)
| gnomAD v4 |
1 | g.1232610G>C | CA337824530 | B3GALT6 | c.332G>C (p.Arg111Pro)
| |
1 | g.1232610G>T | CA337824538 | B3GALT6 | c.332G>T (p.Arg111Leu)
| gnomAD v4 |
1 | g.1232611G>A | CA415761515 | B3GALT6 | c.333G>A (p.Arg111=)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.1232611G>C | CA415761521 | B3GALT6 | c.333G>C (p.Arg111=)
| gnomAD v4 |
1 | g.1232611G= | CA1148810053 | B3GALT6 | c.333G= (p.Arg111=)
| |
1 | g.1232611G>T | CA415761517 | B3GALT6 | c.333G>T (p.Arg111=)
| |
1 | g.1232612G>A | CA337824541 | B3GALT6 | c.334G>A (p.Glu112Lys)
| gnomAD v4 |
1 | g.1232612G>C | CA337824544 | B3GALT6 | c.334G>C (p.Glu112Gln)
| |
1 | g.1232612G>T | CA337824548 | B3GALT6 | c.334G>T (p.Glu112Ter)
| gnomAD v4 |
1 | g.1232613A>C | CA337824554 | B3GALT6 | c.335A>C (p.Glu112Ala)
| |
1 | g.1232613A>G | CA337824572 | B3GALT6 | c.335A>G (p.Glu112Gly)
| gnomAD v4 |
1 | g.1232613A>T | CA337824574 | B3GALT6 | c.335A>T (p.Glu112Val)
| |
1 | g.1232614G>A | CA513316 | B3GALT6 | c.336G>A (p.Glu112=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232614G>C | CA337824578 | B3GALT6 | c.336G>C (p.Glu112Asp)
| |
1 | g.1232614G= | CA1148810065 | B3GALT6 | c.336G= (p.Glu112=)
| |
1 | g.1232614G>T | CA337824576 | B3GALT6 | c.336G>T (p.Glu112Asp)
| gnomAD v4 |
1 | g.1232615C>A | CA337824588 | B3GALT6 | c.337C>A (p.Gln113Lys)
| gnomAD v4 |
1 | g.1232615C>G | CA337824591 | B3GALT6 | c.337C>G (p.Gln113Glu)
| gnomAD v4 |
1 | g.1232615C>T | CA337824594 | B3GALT6 | c.337C>T (p.Gln113Ter)
| gnomAD v4 |
1 | g.1232616A= | CA1148810080 | B3GALT6 | c.338A= (p.Gln113=)
| |
1 | g.1232616A>C | CA337824601 | B3GALT6 | c.338A>C (p.Gln113Pro)
| |
1 | g.1232616A>G | CA16621555 | B3GALT6 | c.338A>G (p.Gln113Arg)
| ClinVar dbSNP gnomAD v4 |
1 | g.1232616A>T | CA337824604 | B3GALT6 | c.338A>T (p.Gln113Leu)
| dbSNP |
1 | g.1232617G>A | CA415761544 | B3GALT6 | c.339G>A (p.Gln113=)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.1232617G>C | CA337824608 | B3GALT6 | c.339G>C (p.Gln113His)
| |
1 | g.1232617G= | CA1148810086 | B3GALT6 | c.339G= (p.Gln113=)
| |
1 | g.1232617G>T | CA337824610 | B3GALT6 | c.339G>T (p.Gln113His)
| gnomAD v4 |
1 | g.1232618G>A | CA337824629 | B3GALT6 | c.340G>A (p.Ala114Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232618G>C | CA337824631 | B3GALT6 | c.340G>C (p.Ala114Pro)
| |
1 | g.1232618G= | CA1148810092 | B3GALT6 | c.340G= (p.Ala114=)
| |
1 | g.1232618G>T | CA337824633 | B3GALT6 | c.340G>T (p.Ala114Ser)
| gnomAD v4 |
1 | g.1232619C>A | CA513317 | B3GALT6 | c.341C>A (p.Ala114Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232619C= | CA1146611763 | B3GALT6 | c.341C= (p.Ala114=)
| |
1 | g.1232619C>G | CA513318 | B3GALT6 | c.341C>G (p.Ala114Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.1232619C>T | CA16755197 | B3GALT6 | c.341C>T (p.Ala114Val)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232620G>A | CA415761574 | B3GALT6 | c.342G>A (p.Ala114=)
| gnomAD v4 |
1 | g.1232620G>C | CA415761573 | B3GALT6 | c.342G>C (p.Ala114=)
| |
1 | g.1232620G>T | CA415761571 | B3GALT6 | c.342G>T (p.Ala114=)
| gnomAD v4 |
1 | g.1232622_1232639dup | CA520658955 | B3GALT6 | c.344_361dup (p.Leu120_Leu121insArgHisGlyAspLeuLeu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232621C>A | CA415761577 | B3GALT6 | c.343C>A (p.Arg115=)
| gnomAD v4 |
1 | g.1232621C= | CA1148810122 | B3GALT6 | c.343C= (p.Arg115=)
| |
1 | g.1232621C>G | CA337824640 | B3GALT6 | c.343C>G (p.Arg115Gly)
| |
1 | g.1232621C>T | CA513319 | B3GALT6 | c.343C>T (p.Arg115Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232622G>A | CA337824643 | B3GALT6 | c.344G>A (p.Arg115Gln)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.1232622G>C | CA337824645 | B3GALT6 | c.344G>C (p.Arg115Pro)
| gnomAD v4 |
1 | g.1232622G= | CA1148810129 | B3GALT6 | c.344G= (p.Arg115=)
| |
1 | g.1232622G>T | CA337824646 | B3GALT6 | c.344G>T (p.Arg115Leu)
| gnomAD v4 |
1 | g.1232623G>A | CA415761582 | B3GALT6 | c.345G>A (p.Arg115=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.1232623G>C | CA415761584 | B3GALT6 | c.345G>C (p.Arg115=)
| |
1 | g.1232623G= | CA1148810134 | B3GALT6 | c.345G= (p.Arg115=)
| |
1 | g.1232623G>T | CA415761585 | B3GALT6 | c.345G>T (p.Arg115=)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.1232624C>A | CA337824647 | B3GALT6 | c.346C>A (p.His116Asn)
| gnomAD v4 |
1 | g.1232624C>G | CA337824648 | B3GALT6 | c.346C>G (p.His116Asp)
| |
1 | g.1232624C>T | CA337824649 | B3GALT6 | c.346C>T (p.His116Tyr)
| gnomAD v4 |
1 | g.1232625A= | CA1148810143 | B3GALT6 | c.347A= (p.His116=)
| |
1 | g.1232625A>C | CA337824650 | B3GALT6 | c.347A>C (p.His116Pro)
| |
1 | g.1232625A>G | CA337824651 | B3GALT6 | c.347A>G (p.His116Arg)
| ClinVar dbSNP gnomAD v4 |
1 | g.1232625A>T | CA337824653 | B3GALT6 | c.347A>T (p.His116Leu)
| |
1 | g.1232626C>A | CA337824655 | B3GALT6 | c.348C>A (p.His116Gln)
| gnomAD v4 |
1 | g.1232626C= | CA1148810156 | B3GALT6 | c.348C= (p.His116=)
| |
1 | g.1232626C>G | CA337824657 | B3GALT6 | c.348C>G (p.His116Gln)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232626C>T | CA415761590 | B3GALT6 | c.348C>T (p.His116=)
| gnomAD v4 COSMIC |
1 | g.1232627G>A | CA337824661 | B3GALT6 | c.349G>A (p.Gly117Arg)
| gnomAD v4 |
1 | g.1232627G>C | CA337824660 | B3GALT6 | c.349G>C (p.Gly117Arg)
| |
1 | g.1232627G>T | CA337824659 | B3GALT6 | c.349G>T (p.Gly117Trp)
| gnomAD v4 |
1 | g.1232630del | CA2642524841 | B3GALT6 | c.352del (p.Asp118ThrfsTer?)
| gnomAD v4 |
1 | g.1232628G>A | CA337824689 | B3GALT6 | c.350G>A (p.Gly117Glu)
| gnomAD v4 |
1 | g.1232628G>C | CA337824695 | B3GALT6 | c.350G>C (p.Gly117Ala)
| |
1 | g.1232628G>T | CA337824691 | B3GALT6 | c.350G>T (p.Gly117Val)
| gnomAD v4 |
1 | g.1232629G>A | CA513320 | B3GALT6 | c.351G>A (p.Gly117=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232629G>C | CA415761597 | B3GALT6 | c.351G>C (p.Gly117=)
| gnomAD v4 |
1 | g.1232629G= | CA1148810166 | B3GALT6 | c.351G= (p.Gly117=)
| |
1 | g.1232629G>T | CA415761598 | B3GALT6 | c.351G>T (p.Gly117=)
| gnomAD v4 |
1 | g.1232630G>A | CA337824726 | B3GALT6 | c.352G>A (p.Asp118Asn)
| dbSNP gnomAD v4 |
1 | g.1232630G>C | CA337824701 | B3GALT6 | c.352G>C (p.Asp118His)
| gnomAD v4 |
1 | g.1232630G= | CA1148810178 | B3GALT6 | c.352G= (p.Asp118=)
| |
1 | g.1232630G>T | CA337824714 | B3GALT6 | c.352G>T (p.Asp118Tyr)
| gnomAD v4 |
1 | g.1232630_1232631delinsGA | CA1148810173 | B3GALT6 | c.352_353delinsGA (p.Asp118=)
| |
1 | g.1232631del | CA144528 | B3GALT6 | c.353del (p.Asp118AlafsTer?)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232631A>C | CA337824737 | B3GALT6 | c.353A>C (p.Asp118Ala)
| |
1 | g.1232631A>G | CA337824739 | B3GALT6 | c.353A>G (p.Asp118Gly)
| gnomAD v4 |
1 | g.1232631A>T | CA337824741 | B3GALT6 | c.353A>T (p.Asp118Val)
| gnomAD v4 |
1 | g.1232632C>A | CA337824746 | B3GALT6 | c.354C>A (p.Asp118Glu)
| gnomAD v4 |
1 | g.1232632C= | CA1148810219 | B3GALT6 | c.354C= (p.Asp118=)
| |
1 | g.1232632C>G | CA337824748 | B3GALT6 | c.354C>G (p.Asp118Glu)
| ClinVar dbSNP gnomAD v4 |
1 | g.1232632C>T | CA513323 | B3GALT6 | c.354C>T (p.Asp118=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232632_1232635delinsCCTG | CA1148810196 | B3GALT6 | c.354_357delinsCCTG (p.Asp118=)
| |
1 | g.1232633C>A | CA337824763 | B3GALT6 | c.355C>A (p.Leu119Met)
| gnomAD v4 |
1 | g.1232633C= | CA1148810240 | B3GALT6 | c.355C= (p.Leu119=)
| |
1 | g.1232633C>G | CA337824764 | B3GALT6 | c.355C>G (p.Leu119Val)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.1232633C>T | CA415761607 | B3GALT6 | c.355C>T (p.Leu119=)
| dbSNP gnomAD v4 |
1 | g.1232643_1232645dup | CA513321 | B3GALT6 | c.365_367dup (p.Leu122_Pro123insLeu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232643_1232645del | CA513322 | B3GALT6 | c.365_367del (p.Leu122del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232634T>A | CA337824772 | B3GALT6 | c.356T>A (p.Leu119Gln)
| COSMIC |
1 | g.1232634T>C | CA337824769 | B3GALT6 | c.356T>C (p.Leu119Pro)
| gnomAD v4 |
1 | g.1232634T>G | CA337824767 | B3GALT6 | c.356T>G (p.Leu119Arg)
| |
1 | g.1232635G>A | CA415761616 | B3GALT6 | c.357G>A (p.Leu119=)
| gnomAD v4 |
1 | g.1232635G>C | CA415761617 | B3GALT6 | c.357G>C (p.Leu119=)
| ClinVar gnomAD v4 |
1 | g.1232635G>T | CA415761621 | B3GALT6 | c.357G>T (p.Leu119=)
| gnomAD v4 |
1 | g.1232636C>A | CA337824774 | B3GALT6 | c.358C>A (p.Leu120Met)
| gnomAD v4 |
1 | g.1232636C>G | CA337824777 | B3GALT6 | c.358C>G (p.Leu120Val)
| gnomAD v4 |
1 | g.1232636C>T | CA415761625 | B3GALT6 | c.358C>T (p.Leu120=)
| gnomAD v4 |
1 | g.1232637T>A | CA337824784 | B3GALT6 | c.359T>A (p.Leu120Gln)
| |
1 | g.1232637T>C | CA337824786 | B3GALT6 | c.359T>C (p.Leu120Pro)
| gnomAD v4 |
1 | g.1232637T>G | CA337824787 | B3GALT6 | c.359T>G (p.Leu120Arg)
| |
1 | g.1232638G>A | CA415761627 | B3GALT6 | c.360G>A (p.Leu120=)
| dbSNP gnomAD v4 |
1 | g.1232638G>C | CA415761631 | B3GALT6 | c.360G>C (p.Leu120=)
| |
1 | g.1232638G>T | CA415761632 | B3GALT6 | c.360G>T (p.Leu120=)
| gnomAD v4 |
1 | g.1232639C>A | CA337824790 | B3GALT6 | c.361C>A (p.Leu121Met)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.1232639C= | CA1148810254 | B3GALT6 | c.361C= (p.Leu121=)
| |
1 | g.1232639C>G | CA337824793 | B3GALT6 | c.361C>G (p.Leu121Val)
| gnomAD v4 |
1 | g.1232639C>T | CA415761633 | B3GALT6 | c.361C>T (p.Leu121=)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.1232640T>A | CA337824797 | B3GALT6 | c.362T>A (p.Leu121Gln)
| |
1 | g.1232640T>C | CA337824798 | B3GALT6 | c.362T>C (p.Leu121Pro)
| gnomAD v4 |
1 | g.1232640T>G | CA337824801 | B3GALT6 | c.362T>G (p.Leu121Arg)
| |
1 | g.1232640_1232641del | CA2642524922 | B3GALT6 | c.362_363del (p.Leu121ProfsTer?)
| gnomAD v4 |
1 | g.1232640_1232649delinsTGCTGCCCGC | CA1148810261 | B3GALT6 | c.362_371delinsTGCTGCCCGC (p.Leu121=)
| |
1 | g.1232641G>A | CA415760952 | B3GALT6 | c.363G>A (p.Leu121=)
| gnomAD v4 |
1 | g.1232641G>C | CA415760954 | B3GALT6 | c.363G>C (p.Leu121=)
| gnomAD v4 |
1 | g.1232641G>T | CA415760955 | B3GALT6 | c.363G>T (p.Leu121=)
| gnomAD v4 |
1 | g.1232641_1232654delinsGCTGCCCGCGCTGC | CA1149034685 | B3GALT6 | c.363_376delinsGCTGCCCGCGCTGC (p.Leu121=)
| |
1 | g.1232646_1232654del | CA513324 | B3GALT6 | c.368_376del (p.Pro123_Leu125del)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.1232642C>A | CA337824810 | B3GALT6 | c.364C>A (p.Leu122Met)
| dbSNP gnomAD v4 |
1 | g.1232642C= | CA1148810275 | B3GALT6 | c.364C= (p.Leu122=)
| |
1 | g.1232642C>G | CA337824813 | B3GALT6 | c.364C>G (p.Leu122Val)
| |
1 | g.1232642C>T | CA415760961 | B3GALT6 | c.364C>T (p.Leu122=)
| gnomAD v4 |
1 | g.1232643del | CA2642524940 | B3GALT6 | c.365del (p.Leu122ArgfsTer?)
| gnomAD v4 |
1 | g.1232643T>A | CA337824822 | B3GALT6 | c.365T>A (p.Leu122Gln)
| |
1 | g.1232643T>C | CA337824825 | B3GALT6 | c.365T>C (p.Leu122Pro)
| gnomAD v4 |
1 | g.1232643T>G | CA337824817 | B3GALT6 | c.365T>G (p.Leu122Arg)
| |
1 | g.1232644G>A | CA513325 | B3GALT6 | c.366G>A (p.Leu122=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232644G>C | CA415760964 | B3GALT6 | c.366G>C (p.Leu122=)
| gnomAD v4 |
1 | g.1232644G= | CA1148810288 | B3GALT6 | c.366G= (p.Leu122=)
| |
1 | g.1232644G>T | CA513326 | B3GALT6 | c.366G>T (p.Leu122=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.1232645C>A | CA337824832 | B3GALT6 | c.367C>A (p.Pro123Thr)
| gnomAD v4 |
1 | g.1232645C= | CA1148810293 | B3GALT6 | c.367C= (p.Pro123=)
| |
1 | g.1232645C>G | CA337824836 | B3GALT6 | c.367C>G (p.Pro123Ala)
| gnomAD v4 |
1 | g.1232645C>T | CA16603412 | B3GALT6 | c.367C>T (p.Pro123Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232647del | CA2642524955 | B3GALT6 | c.369del (p.Ala124ArgfsTer?)
| gnomAD v4 |
1 | g.1232646C>A | CA337824852 | B3GALT6 | c.368C>A (p.Pro123His)
| gnomAD v4 |
1 | g.1232646C>G | CA337824855 | B3GALT6 | c.368C>G (p.Pro123Arg)
| |
1 | g.1232646C>T | CA337824877 | B3GALT6 | c.368C>T (p.Pro123Leu)
| gnomAD v4 |
1 | g.1232647C>A | CA415760988 | B3GALT6 | c.369C>A (p.Pro123=)
| gnomAD v4 |
1 | g.1232647C= | CA1148810349 | B3GALT6 | c.369C= (p.Pro123=)
| |
1 | g.1232647C>G | CA415760990 | B3GALT6 | c.369C>G (p.Pro123=)
| gnomAD v4 |
1 | g.1232647C>T | CA415760992 | B3GALT6 | c.369C>T (p.Pro123=)
| dbSNP gnomAD v4 |
1 | g.1232648G>A | CA513327 | B3GALT6 | c.370G>A (p.Ala124Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232648G>C | CA337824881 | B3GALT6 | c.370G>C (p.Ala124Pro)
| |
1 | g.1232648G= | CA1145211674 | B3GALT6 | c.370G= (p.Ala124=)
| |
1 | g.1232648G>T | CA337824882 | B3GALT6 | c.370G>T (p.Ala124Ser)
| gnomAD v4 |
1 | g.1232649C>A | CA337824886 | B3GALT6 | c.371C>A (p.Ala124Glu)
| gnomAD v4 |
1 | g.1232649C= | CA1148810361 | B3GALT6 | c.371C= (p.Ala124=)
| |
1 | g.1232649C>G | CA337824885 | B3GALT6 | c.371C>G (p.Ala124Gly)
| gnomAD v4 |
1 | g.1232649C>T | CA513328 | B3GALT6 | c.371C>T (p.Ala124Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.1232650del | CA2642524982 | B3GALT6 | c.372del (p.Leu125CysfsTer?)
| gnomAD v4 |
1 | g.1232650G>A | CA513329 | B3GALT6 | c.372G>A (p.Ala124=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232650G>C | CA415761000 | B3GALT6 | c.372G>C (p.Ala124=)
| dbSNP gnomAD v4 |
1 | g.1232650G= | CA1148810366 | B3GALT6 | c.372G= (p.Ala124=)
| |
1 | g.1232650G>T | CA415761002 | B3GALT6 | c.372G>T (p.Ala124=)
| gnomAD v4 |
1 | g.1232651C>A | CA337824889 | B3GALT6 | c.373C>A (p.Leu125Met)
| gnomAD v4 |
1 | g.1232651C= | CA1148810368 | B3GALT6 | c.373C= (p.Leu125=)
| |
1 | g.1232651C>G | CA337824890 | B3GALT6 | c.373C>G (p.Leu125Val)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.1232651C>T | CA415761003 | B3GALT6 | c.373C>T (p.Leu125=)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.1232652T>A | CA337824894 | B3GALT6 | c.374T>A (p.Leu125Gln)
| gnomAD v4 |
1 | g.1232652T>C | CA337824895 | B3GALT6 | c.374T>C (p.Leu125Pro)
| gnomAD v4 |
1 | g.1232652T>G | CA337824898 | B3GALT6 | c.374T>G (p.Leu125Arg)
| |
1 | g.1232653G>A | CA415761005 | B3GALT6 | c.375G>A (p.Leu125=)
| gnomAD v4 |
1 | g.1232653G>C | CA415761006 | B3GALT6 | c.375G>C (p.Leu125=)
| dbSNP gnomAD v4 |
1 | g.1232653G= | CA1148810373 | B3GALT6 | c.375G= (p.Leu125=)
| |
1 | g.1232653G>T | CA415761009 | B3GALT6 | c.375G>T (p.Leu125=)
| gnomAD v4 |
1 | g.1232654C>A | CA337824901 | B3GALT6 | c.376C>A (p.Arg126Ser)
| gnomAD v4 |
1 | g.1232654C= | CA1148810392 | B3GALT6 | c.376C= (p.Arg126=)
| |
1 | g.1232654C>G | CA337824904 | B3GALT6 | c.376C>G (p.Arg126Gly)
| |
1 | g.1232654C>T | CA337824905 | B3GALT6 | c.376C>T (p.Arg126Cys)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.1232657_1232661del | CA2642524996 | B3GALT6 | c.379_383del (p.Asp127LeufsTer?)
| gnomAD v4 |
1 | g.1232655G>A | CA337824907 | B3GALT6 | c.377G>A (p.Arg126His)
| gnomAD v4 |
1 | g.1232655G>C | CA337824910 | B3GALT6 | c.377G>C (p.Arg126Pro)
| |
1 | g.1232655G>T | CA337824922 | B3GALT6 | c.377G>T (p.Arg126Leu)
| gnomAD v4 |
1 | g.1232656C>A | CA415761018 | B3GALT6 | c.378C>A (p.Arg126=)
| gnomAD v4 |
1 | g.1232656C>G | CA415761021 | B3GALT6 | c.378C>G (p.Arg126=)
| gnomAD v4 |
1 | g.1232656C>T | CA415761022 | B3GALT6 | c.378C>T (p.Arg126=)
| gnomAD v4 |
1 | g.1232657G>A | CA337824928 | B3GALT6 | c.379G>A (p.Asp127Asn)
| gnomAD v4 |
1 | g.1232657G>C | CA337824927 | B3GALT6 | c.379G>C (p.Asp127His)
| |
1 | g.1232657G>T | CA337824926 | B3GALT6 | c.379G>T (p.Asp127Tyr)
| gnomAD v4 |
1 | g.1232658A= | CA1148810401 | B3GALT6 | c.380A= (p.Asp127=)
| |
1 | g.1232658A>C | CA337824941 | B3GALT6 | c.380A>C (p.Asp127Ala)
| dbSNP gnomAD v4 |
1 | g.1232658A>G | CA337824945 | B3GALT6 | c.380A>G (p.Asp127Gly)
| gnomAD v4 |
1 | g.1232658A>T | CA337824943 | B3GALT6 | c.380A>T (p.Asp127Val)
| |
1 | g.1232659C>A | CA337824946 | B3GALT6 | c.381C>A (p.Asp127Glu)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.1232659C= | CA1148810421 | B3GALT6 | c.381C= (p.Asp127=)
| |
1 | g.1232659C>G | CA337824947 | B3GALT6 | c.381C>G (p.Asp127Glu)
| gnomAD v4 |
1 | g.1232659C>T | CA415761030 | B3GALT6 | c.381C>T (p.Asp127=)
| gnomAD v4 |
1 | g.1232660G>A | CA337824951 | B3GALT6 | c.382G>A (p.Ala128Thr)
| gnomAD v4 |
1 | g.1232660G>C | CA337824956 | B3GALT6 | c.382G>C (p.Ala128Pro)
| gnomAD v4 |
1 | g.1232660G>T | CA337824959 | B3GALT6 | c.382G>T (p.Ala128Ser)
| gnomAD v4 |
1 | g.1232661C>A | CA337824964 | B3GALT6 | c.383C>A (p.Ala128Asp)
| gnomAD v4 |
1 | g.1232661C= | CA1148810428 | B3GALT6 | c.383C= (p.Ala128=)
| |
1 | g.1232661C>G | CA337824965 | B3GALT6 | c.383C>G (p.Ala128Gly)
| gnomAD v4 |
1 | g.1232661C>T | CA337824966 | B3GALT6 | c.383C>T (p.Ala128Val)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.1232662C>A | CA415761037 | B3GALT6 | c.384C>A (p.Ala128=)
| gnomAD v4 |
1 | g.1232662C= | CA1148810438 | B3GALT6 | c.384C= (p.Ala128=)
| |
1 | g.1232662C>G | CA415761036 | B3GALT6 | c.384C>G (p.Ala128=)
| ClinVar dbSNP gnomAD v4 |
1 | g.1232662C>T | CA415761034 | B3GALT6 | c.384C>T (p.Ala128=)
| dbSNP gnomAD v4 |
1 | g.1232663T>A | CA337824968 | B3GALT6 | c.385T>A (p.Tyr129Asn)
| gnomAD v4 |
1 | g.1232663T>C | CA337824969 | B3GALT6 | c.385T>C (p.Tyr129His)
| gnomAD v4 |
1 | g.1232663T>G | CA337824971 | B3GALT6 | c.385T>G (p.Tyr129Asp)
| |
1 | g.1232664A>C | CA337824979 | B3GALT6 | c.386A>C (p.Tyr129Ser)
| |
1 | g.1232664A>G | CA337824973 | B3GALT6 | c.386A>G (p.Tyr129Cys)
| gnomAD v4 |
1 | g.1232664A>T | CA337824976 | B3GALT6 | c.386A>T (p.Tyr129Phe)
| |
1 | g.1232665C>A | CA337824984 | B3GALT6 | c.387C>A (p.Tyr129Ter)
| gnomAD v4 |
1 | g.1232665C= | CA1148810454 | B3GALT6 | c.387C= (p.Tyr129=)
| |
1 | g.1232665C>G | CA337824990 | B3GALT6 | c.387C>G (p.Tyr129Ter)
| gnomAD v4 |
1 | g.1232665C>T | CA415761041 | B3GALT6 | c.387C>T (p.Tyr129=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232666G>A | CA513330 | B3GALT6 | c.388G>A (p.Glu130Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232666G>C | CA337824994 | B3GALT6 | c.388G>C (p.Glu130Gln)
| gnomAD v4 |
1 | g.1232666G= | CA1148810476 | B3GALT6 | c.388G= (p.Glu130=)
| |
1 | g.1232666G>T | CA337824998 | B3GALT6 | c.388G>T (p.Glu130Ter)
| dbSNP gnomAD v4 |
1 | g.1232667A= | CA1148810489 | B3GALT6 | c.389A= (p.Glu130=)
| |
1 | g.1232667A>C | CA337825003 | B3GALT6 | c.389A>C (p.Glu130Ala)
| |
1 | g.1232667A>G | CA337825006 | B3GALT6 | c.389A>G (p.Glu130Gly)
| ClinVar dbSNP gnomAD v4 |
1 | g.1232667A>T | CA337825007 | B3GALT6 | c.389A>T (p.Glu130Val)
| dbSNP gnomAD v4 |
1 | g.1232670dup | CA2642525060 | B3GALT6 | c.392dup (p.Asn131LysfsTer?)
| gnomAD v4 |
1 | g.1232670del | CA2642525062 | B3GALT6 | c.392del (p.Asn131ThrfsTer?)
| gnomAD v4 |
1 | g.1232668A>C | CA337825010 | B3GALT6 | c.390A>C (p.Glu130Asp)
| |
1 | g.1232668A>G | CA415761046 | B3GALT6 | c.390A>G (p.Glu130=)
| gnomAD v4 |
1 | g.1232668A>T | CA337825017 | B3GALT6 | c.390A>T (p.Glu130Asp)
| gnomAD v4 |
1 | g.1232669A>C | CA337825031 | B3GALT6 | c.391A>C (p.Asn131His)
| |
1 | g.1232669A>G | CA337825033 | B3GALT6 | c.391A>G (p.Asn131Asp)
| gnomAD v4 |
1 | g.1232669A>T | CA337825029 | B3GALT6 | c.391A>T (p.Asn131Tyr)
| |
1 | g.1232670A>C | CA337825036 | B3GALT6 | c.392A>C (p.Asn131Thr)
| |
1 | g.1232670A>G | CA337825039 | B3GALT6 | c.392A>G (p.Asn131Ser)
| gnomAD v4 |
1 | g.1232670A>T | CA337825042 | B3GALT6 | c.392A>T (p.Asn131Ile)
| |
1 | g.1232671C>A | CA337825046 | B3GALT6 | c.393C>A (p.Asn131Lys)
| gnomAD v4 |
1 | g.1232671C= | CA1148810531 | B3GALT6 | c.393C= (p.Asn131=)
| |
1 | g.1232671C>G | CA337825048 | B3GALT6 | c.393C>G (p.Asn131Lys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232671C>T | CA415761050 | B3GALT6 | c.393C>T (p.Asn131=)
| ClinVar dbSNP gnomAD v4 |
1 | g.1232672C>A | CA337825076 | B3GALT6 | c.394C>A (p.Leu132Ile)
| gnomAD v4 |
1 | g.1232672C>G | CA337825058 | B3GALT6 | c.394C>G (p.Leu132Val)
| |
1 | g.1232672C>T | CA337825056 | B3GALT6 | c.394C>T (p.Leu132Phe)
| gnomAD v4 |
1 | g.1232673T>A | CA337825087 | B3GALT6 | c.395T>A (p.Leu132His)
| |
1 | g.1232673T>C | CA337825088 | B3GALT6 | c.395T>C (p.Leu132Pro)
| gnomAD v4 |
1 | g.1232673T>G | CA337825089 | B3GALT6 | c.395T>G (p.Leu132Arg)
| |
1 | g.1232674C>A | CA415761053 | B3GALT6 | c.396C>A (p.Leu132=)
| gnomAD v4 |
1 | g.1232674C>G | CA415761055 | B3GALT6 | c.396C>G (p.Leu132=)
| gnomAD v4 |
1 | g.1232674C>T | CA415761056 | B3GALT6 | c.396C>T (p.Leu132=)
| gnomAD v4 |
1 | g.1232675A>C | CA337825090 | B3GALT6 | c.397A>C (p.Thr133Pro)
| |
1 | g.1232675A>G | CA337825091 | B3GALT6 | c.397A>G (p.Thr133Ala)
| gnomAD v4 |
1 | g.1232675A>T | CA337825092 | B3GALT6 | c.397A>T (p.Thr133Ser)
| gnomAD v4 |
1 | g.1232676C>A | CA513331 | B3GALT6 | c.398C>A (p.Thr133Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.1232676C= | CA1148406876 | B3GALT6 | c.398C= (p.Thr133=)
| |
1 | g.1232676C>G | CA337825103 | B3GALT6 | c.398C>G (p.Thr133Arg)
| gnomAD v4 |
1 | g.1232676C>T | CA337825095 | B3GALT6 | c.398C>T (p.Thr133Met)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.1232677G>A | CA415761065 | B3GALT6 | c.399G>A (p.Thr133=)
| gnomAD v4 |
1 | g.1232677G>C | CA415761063 | B3GALT6 | c.399G>C (p.Thr133=)
| gnomAD v4 |
1 | g.1232677G>T | CA415761064 | B3GALT6 | c.399G>T (p.Thr133=)
| gnomAD v4 |
1 | g.1232678del | CA2840051581 | B3GALT6 | c.400del (p.Ala134ProfsTer?)
| |
1 | g.1232678G>A | CA337825104 | B3GALT6 | c.400G>A (p.Ala134Thr)
| gnomAD v4 |
1 | g.1232678G>C | CA337825109 | B3GALT6 | c.400G>C (p.Ala134Pro)
| gnomAD v4 |
1 | g.1232678G>T | CA337825112 | B3GALT6 | c.400G>T (p.Ala134Ser)
| gnomAD v4 |
1 | g.1232679C>A | CA337825126 | B3GALT6 | c.401C>A (p.Ala134Asp)
| gnomAD v4 |
1 | g.1232679C>G | CA337825134 | B3GALT6 | c.401C>G (p.Ala134Gly)
| |
1 | g.1232679C>T | CA337825136 | B3GALT6 | c.401C>T (p.Ala134Val)
| gnomAD v4 |
1 | g.1232680del | CA2742143411 | B3GALT6 | c.402del (p.Lys135ArgfsTer?)
| |
1 | g.1232680C>A | CA415761074 | B3GALT6 | c.402C>A (p.Ala134=)
| gnomAD v4 |
1 | g.1232680C>G | CA415761076 | B3GALT6 | c.402C>G (p.Ala134=)
| |
1 | g.1232680C>T | CA415761077 | B3GALT6 | c.402C>T (p.Ala134=)
| gnomAD v4 |
1 | g.1232681A>C | CA337825141 | B3GALT6 | c.403A>C (p.Lys135Gln)
| |
1 | g.1232681A>G | CA337825146 | B3GALT6 | c.403A>G (p.Lys135Glu)
| gnomAD v4 |
1 | g.1232681A>T | CA337825149 | B3GALT6 | c.403A>T (p.Lys135Ter)
| gnomAD v4 |
1 | g.1232682del | CA2642525082 | B3GALT6 | c.404del (p.Lys135ArgfsTer?)
| gnomAD v4 |
1 | g.1232682A>C | CA337825154 | B3GALT6 | c.404A>C (p.Lys135Thr)
| |
1 | g.1232682A>G | CA337825164 | B3GALT6 | c.404A>G (p.Lys135Arg)
| ClinVar gnomAD v4 |
1 | g.1232682A>T | CA337825175 | B3GALT6 | c.404A>T (p.Lys135Met)
| gnomAD v4 |
1 | g.1232683G>A | CA415761079 | B3GALT6 | c.405G>A (p.Lys135=)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.1232683G>C | CA337825179 | B3GALT6 | c.405G>C (p.Lys135Asn)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.1232683G= | CA1148810541 | B3GALT6 | c.405G= (p.Lys135=)
| |
1 | g.1232683G>T | CA337825181 | B3GALT6 | c.405G>T (p.Lys135Asn)
| gnomAD v4 |
1 | g.1232684G>A | CA337825186 | B3GALT6 | c.406G>A (p.Val136Met)
| gnomAD v4 |
1 | g.1232684G>C | CA337825196 | B3GALT6 | c.406G>C (p.Val136Leu)
| gnomAD v4 |
1 | g.1232684G>T | CA337825195 | B3GALT6 | c.406G>T (p.Val136Leu)
| gnomAD v4 |
1 | g.1232684_1232692del | CA2642525089 | B3GALT6 | c.406_414del (p.Val136_Ala138del)
| gnomAD v4 |
1 | g.1232684_1232693delinsGTGCTGGCCA | CA1148810553 | B3GALT6 | c.406_415delinsGTGCTGGCCA (p.Val136=)
| |
1 | g.1232685T>A | CA337825200 | B3GALT6 | c.407T>A (p.Val136Glu)
| |
1 | g.1232685T>C | CA513332 | B3GALT6 | c.407T>C (p.Val136Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.1232685T>G | CA337825204 | B3GALT6 | c.407T>G (p.Val136Gly)
| |
1 | g.1232685T= | CA1148810570 | B3GALT6 | c.407T= (p.Val136=)
| |
1 | g.1232687_1232698dup | CA2642525098 | B3GALT6 | c.409_420dup (p.Leu140_Ala141insLeuAlaMetLeu)
| gnomAD v4 |
1 | g.1232693_1232701del | CA144532 | B3GALT6 | c.415_423del (p.Met139_Ala141del)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.1232686G>A | CA16755265 | B3GALT6 | c.408G>A (p.Val136=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232686G>C | CA415761097 | B3GALT6 | c.408G>C (p.Val136=)
| gnomAD v4 |
1 | g.1232686G= | CA1148810577 | B3GALT6 | c.408G= (p.Val136=)
| |
1 | g.1232686G>T | CA415761098 | B3GALT6 | c.408G>T (p.Val136=)
| gnomAD v4 |
1 | g.1232687C>A | CA337825208 | B3GALT6 | c.409C>A (p.Leu137Met)
| gnomAD v4 |
1 | g.1232687C= | CA1141847513 | B3GALT6 | c.409C= (p.Leu137=)
| |
1 | g.1232687C>G | CA513333 | B3GALT6 | c.409C>G (p.Leu137Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232687C>T | CA415761101 | B3GALT6 | c.409C>T (p.Leu137=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.1232688T>A | CA337825214 | B3GALT6 | c.410T>A (p.Leu137Gln)
| gnomAD v4 |
1 | g.1232688T>C | CA337825217 | B3GALT6 | c.410T>C (p.Leu137Pro)
| gnomAD v4 |
1 | g.1232688T>G | CA337825221 | B3GALT6 | c.410T>G (p.Leu137Arg)
| |
1 | g.1232689G>A | CA415761104 | B3GALT6 | c.411G>A (p.Leu137=)
| gnomAD v4 |
1 | g.1232689G>C | CA513334 | B3GALT6 | c.411G>C (p.Leu137=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.1232689G= | CA1148239028 | B3GALT6 | c.411G= (p.Leu137=)
| |
1 | g.1232689G>T | CA415761102 | B3GALT6 | c.411G>T (p.Leu137=)
| gnomAD v4 |
1 | g.1232690del | CA2642525137 | B3GALT6 | c.412del (p.Ala138ProfsTer?)
| gnomAD v4 |
1 | g.1232690G>A | CA337825230 | B3GALT6 | c.412G>A (p.Ala138Thr)
| gnomAD v4 |
1 | g.1232690G>C | CA337825244 | B3GALT6 | c.412G>C (p.Ala138Pro)
| gnomAD v4 |
1 | g.1232690G>T | CA337825246 | B3GALT6 | c.412G>T (p.Ala138Ser)
| gnomAD v4 |
1 | g.1232691C>A | CA337825250 | B3GALT6 | c.413C>A (p.Ala138Asp)
| gnomAD v4 |
1 | g.1232691C= | CA1148810592 | B3GALT6 | c.413C= (p.Ala138=)
| |
1 | g.1232691C>G | CA513335 | B3GALT6 | c.413C>G (p.Ala138Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.1232691C>T | CA337825253 | B3GALT6 | c.413C>T (p.Ala138Val)
| gnomAD v4 |
1 | g.1232692del | CA2642525146 | B3GALT6 | c.414del (p.Met139CysfsTer?)
| gnomAD v4 |
1 | g.1232692C>A | CA415761114 | B3GALT6 | c.414C>A (p.Ala138=)
| gnomAD v4 |
1 | g.1232692C= | CA1148810604 | B3GALT6 | c.414C= (p.Ala138=)
| |
1 | g.1232692C>G | CA415761116 | B3GALT6 | c.414C>G (p.Ala138=)
| |
1 | g.1232692C>T | CA415761117 | B3GALT6 | c.414C>T (p.Ala138=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232693A>C | CA337825280 | B3GALT6 | c.415A>C (p.Met139Leu)
| |
1 | g.1232693A>G | CA337825288 | B3GALT6 | c.415A>G (p.Met139Val)
| ClinVar dbSNP gnomAD v4 |
1 | g.1232693A>T | CA337825283 | B3GALT6 | c.415A>T (p.Met139Leu)
| gnomAD v4 |
1 | g.1232694T>A | CA337825291 | B3GALT6 | c.416T>A (p.Met139Lys)
| |
1 | g.1232694T>C | CA337825297 | B3GALT6 | c.416T>C (p.Met139Thr)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.1232694T>G | CA337825299 | B3GALT6 | c.416T>G (p.Met139Arg)
| |
1 | g.1232694T= | CA1148810626 | B3GALT6 | c.416T= (p.Met139=)
| |
1 | g.1232695G>A | CA337825301 | B3GALT6 | c.417G>A (p.Met139Ile)
| gnomAD v4 |
1 | g.1232695G>C | CA337825302 | B3GALT6 | c.417G>C (p.Met139Ile)
| gnomAD v4 |
1 | g.1232695G>T | CA337825303 | B3GALT6 | c.417G>T (p.Met139Ile)
| gnomAD v4 |
1 | g.1232696C>A | CA513336 | B3GALT6 | c.418C>A (p.Leu140Met)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.1232696C= | CA1142087771 | B3GALT6 | c.418C= (p.Leu140=)
| |
1 | g.1232696C>G | CA16755282 | B3GALT6 | c.418C>G (p.Leu140Val)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.1232696C>T | CA415761125 | B3GALT6 | c.418C>T (p.Leu140=)
| gnomAD v4 |
1 | g.1232697T>A | CA337825310 | B3GALT6 | c.419T>A (p.Leu140Gln)
| dbSNP gnomAD v4 |
1 | g.1232697T>C | CA337825317 | B3GALT6 | c.419T>C (p.Leu140Pro)
| dbSNP gnomAD v4 |
1 | g.1232697T>G | CA337825308 | B3GALT6 | c.419T>G (p.Leu140Arg)
| |
1 | g.1232697T= | CA1148810634 | B3GALT6 | c.419T= (p.Leu140=)
| |
1 | g.1232697_1232698delinsTG | CA1148810649 | B3GALT6 | c.419_420delinsTG (p.Leu140=)
| |
1 | g.1232698G>A | CA415761128 | B3GALT6 | c.420G>A (p.Leu140=)
| gnomAD v4 |
1 | g.1232698G>C | CA415761130 | B3GALT6 | c.420G>C (p.Leu140=)
| ClinVar gnomAD v4 |
1 | g.1232698G>T | CA415761132 | B3GALT6 | c.420G>T (p.Leu140=)
| gnomAD v4 |
1 | g.1232699del | CA886926364 | B3GALT6 | c.421del (p.Ala141ProfsTer?)
| ClinVar dbSNP gnomAD v4 |
1 | g.1232699G>A | CA337825319 | B3GALT6 | c.421G>A (p.Ala141Thr)
| gnomAD v4 |
1 | g.1232699G>C | CA337825331 | B3GALT6 | c.421G>C (p.Ala141Pro)
| gnomAD v4 |
1 | g.1232699G>T | CA337825332 | B3GALT6 | c.421G>T (p.Ala141Ser)
| gnomAD v4 |
1 | g.1232700C>A | CA337825333 | B3GALT6 | c.422C>A (p.Ala141Asp)
| dbSNP gnomAD v4 |
1 | g.1232700C= | CA1148810659 | B3GALT6 | c.422C= (p.Ala141=)
| |
1 | g.1232700C>G | CA337825334 | B3GALT6 | c.422C>G (p.Ala141Gly)
| gnomAD v4 |
1 | g.1232700C>T | CA513337 | B3GALT6 | c.422C>T (p.Ala141Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232701C>A | CA415761140 | B3GALT6 | c.423C>A (p.Ala141=)
| gnomAD v4 |
1 | g.1232701C= | CA1148810673 | B3GALT6 | c.423C= (p.Ala141=)
| |
1 | g.1232701C>G | CA513338 | B3GALT6 | c.423C>G (p.Ala141=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.1232701C>T | CA513339 | B3GALT6 | c.423C>T (p.Ala141=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.1232702T>A | CA337825344 | B3GALT6 | c.424T>A (p.Trp142Arg)
| gnomAD v4 |
1 | g.1232702T>C | CA337825346 | B3GALT6 | c.424T>C (p.Trp142Arg)
| gnomAD v4 |
1 | g.1232702T>G | CA337825347 | B3GALT6 | c.424T>G (p.Trp142Gly)
| |
1 | g.1232703G>A | CA337825351 | B3GALT6 | c.425G>A (p.Trp142Ter)
| dbSNP gnomAD v4 |
1 | g.1232703G>C | CA337825352 | B3GALT6 | c.425G>C (p.Trp142Ser)
| gnomAD v4 |
1 | g.1232703G= | CA1148810692 | B3GALT6 | c.425G= (p.Trp142=)
| |
1 | g.1232703G>T | CA337825349 | B3GALT6 | c.425G>T (p.Trp142Leu)
| gnomAD v4 |
1 | g.1232703_1232704del | CA2742143412 | B3GALT6 | c.425_426del (p.Trp142SerfsTer?)
| |
1 | g.1232704del | CA2642525211 | B3GALT6 | c.426del (p.Trp142CysfsTer?)
| gnomAD v4 |
1 | g.1232712_1232771del | CA2642525215 | B3GALT6 | c.434_493del (p.Glu145_Asp164del)
| gnomAD v4 |
1 | g.1232704G>A | CA16755286 | B3GALT6 | c.426G>A (p.Trp142Ter)
| dbSNP gnomAD v4 |
1 | g.1232704G>C | CA337825372 | B3GALT6 | c.426G>C (p.Trp142Cys)
| |
1 | g.1232704G= | CA1148810716 | B3GALT6 | c.426G= (p.Trp142=)
| |
1 | g.1232704G>T | CA337825373 | B3GALT6 | c.426G>T (p.Trp142Cys)
| gnomAD v4 |
1 | g.1232705C>A | CA337825376 | B3GALT6 | c.427C>A (p.Leu143Met)
| gnomAD v4 |
1 | g.1232705C>G | CA337825377 | B3GALT6 | c.427C>G (p.Leu143Val)
| gnomAD v4 |
1 | g.1232705C>T | CA415761148 | B3GALT6 | c.427C>T (p.Leu143=)
| gnomAD v4 |
1 | g.1232706T>A | CA337825390 | B3GALT6 | c.428T>A (p.Leu143Gln)
| gnomAD v4 |
1 | g.1232706T>C | CA337825380 | B3GALT6 | c.428T>C (p.Leu143Pro)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.1232706T>G | CA337825385 | B3GALT6 | c.428T>G (p.Leu143Arg)
| |
1 | g.1232706T= | CA1148810740 | B3GALT6 | c.428T= (p.Leu143=)
| |
1 | g.1232707G>A | CA415761151 | B3GALT6 | c.429G>A (p.Leu143=)
| dbSNP gnomAD v4 |
1 | g.1232707G>C | CA415761150 | B3GALT6 | c.429G>C (p.Leu143=)
| |
1 | g.1232707G= | CA1148810748 | B3GALT6 | c.429G= (p.Leu143=)
| |
1 | g.1232707G>T | CA415761149 | B3GALT6 | c.429G>T (p.Leu143=)
| gnomAD v4 |
1 | g.1232708del | CA2642525276 | B3GALT6 | c.430del (p.Asp144ThrfsTer?)
| gnomAD v4 |
1 | g.1232708G>A | CA337825391 | B3GALT6 | c.430G>A (p.Asp144Asn)
| gnomAD v4 |
1 | g.1232708G>C | CA337825392 | B3GALT6 | c.430G>C (p.Asp144His)
| gnomAD v4 |
1 | g.1232708G>T | CA337825393 | B3GALT6 | c.430G>T (p.Asp144Tyr)
| gnomAD v4 |
1 | g.1232709A>C | CA337825394 | B3GALT6 | c.431A>C (p.Asp144Ala)
| gnomAD v4 |
1 | g.1232709A>G | CA337825395 | B3GALT6 | c.431A>G (p.Asp144Gly)
| gnomAD v4 |
1 | g.1232709A>T | CA337825417 | B3GALT6 | c.431A>T (p.Asp144Val)
| gnomAD v4 |