| 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.1232586C>A | CA337824306 | B3GALT6 | c.308C>A (p.Ala103Asp)
| |
| 1 | g.1232586C= | CA1148809924 | B3GALT6 | c.308C= (p.Ala103=)
| |
| 1 | g.1232586C>G | CA337824307 | B3GALT6 | c.308C>G (p.Ala103Gly)
| gnomAD v4 |
| 1 | g.1232586C>T | CA337824304 | B3GALT6 | c.308C>T (p.Ala103Val)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232587C>A | CA415761425 | B3GALT6 | c.309C>A (p.Ala103=)
| |
| 1 | g.1232587C>G | CA415761426 | B3GALT6 | c.309C>G (p.Ala103=)
| |
| 1 | g.1232587C>T | CA415761427 | B3GALT6 | c.309C>T (p.Ala103=)
| gnomAD v4 |
| 1 | g.1232587_1232592delinsCGAGGA | CA1148809928 | B3GALT6 | c.309_314delinsCGAGGA (p.Ala103=)
| |
| 1 | g.1232588G>A | CA337824308 | B3GALT6 | c.310G>A (p.Glu104Lys)
| gnomAD v4 |
| 1 | g.1232588G>C | CA337824309 | B3GALT6 | c.310G>C (p.Glu104Gln)
| |
| 1 | g.1232588G>T | CA337824312 | B3GALT6 | c.310G>T (p.Glu104Ter)
| gnomAD v4 |
| 1 | g.1232589_1232593del | CA1148809929 | B3GALT6 | c.311_315del (p.Glu104AlafsTer?)
| dbSNP |
| 1 | g.1232589A>C | CA337824317 | B3GALT6 | c.311A>C (p.Glu104Ala)
| |
| 1 | g.1232589A>G | CA337824319 | B3GALT6 | c.311A>G (p.Glu104Gly)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232589A>T | CA337824325 | B3GALT6 | c.311A>T (p.Glu104Val)
| |
| 1 | g.1232589_1232604delinsAGGAGCGGCGCGCCCT | CA1148809940 | B3GALT6 | c.311_326delinsAGGAGCGGCGCGCCCT (p.Glu104=)
| |
| 1 | g.1232590G>A | CA415761429 | B3GALT6 | c.312G>A (p.Glu104=)
| gnomAD v4 |
| 1 | g.1232590G>C | CA337824327 | B3GALT6 | c.312G>C (p.Glu104Asp)
| ClinVar gnomAD v4 |
| 1 | g.1232590G>T | CA337824332 | B3GALT6 | c.312G>T (p.Glu104Asp)
| gnomAD v4 |
| 1 | g.1232591del | CA2642524687 | B3GALT6 | c.313del (p.Glu105SerfsTer?)
| gnomAD v4 |
| 1 | g.1232597_1232611del | CA1148809944 | B3GALT6 | c.319_333del (p.Arg107_Arg111del)
| dbSNP |
| 1 | g.1232591G>A | CA337824336 | B3GALT6 | c.313G>A (p.Glu105Lys)
| dbSNP gnomAD v4 |
| 1 | g.1232591G>C | CA337824337 | B3GALT6 | c.313G>C (p.Glu105Gln)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232591G= | CA1148809953 | B3GALT6 | c.313G= (p.Glu105=)
| |
| 1 | g.1232591G>T | CA337824346 | B3GALT6 | c.313G>T (p.Glu105Ter)
| gnomAD v4 |
| 1 | g.1232592A>C | CA337824352 | B3GALT6 | c.314A>C (p.Glu105Ala)
| |
| 1 | g.1232592A>G | CA337824354 | B3GALT6 | c.314A>G (p.Glu105Gly)
| |
| 1 | g.1232592A>T | CA337824348 | B3GALT6 | c.314A>T (p.Glu105Val)
| |
| 1 | g.1232593G>A | CA415761444 | B3GALT6 | c.315G>A (p.Glu105=)
| |
| 1 | g.1232593G>C | CA337824356 | B3GALT6 | c.315G>C (p.Glu105Asp)
| |
| 1 | g.1232593G= | CA1148809965 | B3GALT6 | c.315G= (p.Glu105=)
| |
| 1 | g.1232593G>T | CA337824357 | B3GALT6 | c.315G>T (p.Glu105Asp)
| |
| 1 | g.1232594C>A | CA415761450 | B3GALT6 | c.316C>A (p.Arg106=)
| gnomAD v4 |
| 1 | g.1232594C= | CA1148809972 | B3GALT6 | c.316C= (p.Arg106=)
| |
| 1 | g.1232594C>G | CA337824358 | B3GALT6 | c.316C>G (p.Arg106Gly)
| gnomAD v4 |
| 1 | g.1232594C>T | CA337824359 | B3GALT6 | c.316C>T (p.Arg106Trp)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1232594_1232595insTCCTC | CA1148809969 | B3GALT6 | c.316_317insTCCTC (p.Arg106LeufsTer?)
| dbSNP |
| 1 | g.1232594_1232616delinsCGGCGCGCCCTGGAGCGGGAGCA | CA1148809970 | B3GALT6 | c.316_338delinsCGGCGCGCCCTGGAGCGGGAGCA (p.Arg106=)
| |
| 1 | g.1232595G>A | CA337824372 | B3GALT6 | c.317G>A (p.Arg106Gln)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232595G>C | CA337824371 | B3GALT6 | c.317G>C (p.Arg106Pro)
| dbSNP |
| 1 | g.1232595G= | CA1148809981 | B3GALT6 | c.317G= (p.Arg106=)
| |
| 1 | g.1232595G>T | CA337824366 | B3GALT6 | c.317G>T (p.Arg106Leu)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232601_1232622del | CA144536 | B3GALT6 | c.323_344del (p.Ala108GlyfsTer?)
| ClinVar dbSNP |
| 1 | g.1232596G>A | CA415761455 | B3GALT6 | c.318G>A (p.Arg106=)
| gnomAD v4 |
| 1 | g.1232596G>C | CA415761456 | B3GALT6 | c.318G>C (p.Arg106=)
| |
| 1 | g.1232596G>T | CA415761461 | B3GALT6 | c.318G>T (p.Arg106=)
| gnomAD v4 |
| 1 | g.1232597C>A | CA337824374 | B3GALT6 | c.319C>A (p.Arg107Ser)
| gnomAD v4 |
| 1 | g.1232597C= | CA1148809991 | B3GALT6 | c.319C= (p.Arg107=)
| |
| 1 | g.1232597C>G | CA337824375 | B3GALT6 | c.319C>G (p.Arg107Gly)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1232597C>T | CA337824378 | B3GALT6 | c.319C>T (p.Arg107Cys)
| gnomAD v4 |
| 1 | g.1232598G>A | CA337824380 | B3GALT6 | c.320G>A (p.Arg107His)
| gnomAD v4 |
| 1 | g.1232598G>C | CA16755178 | B3GALT6 | c.320G>C (p.Arg107Pro)
| dbSNP |
| 1 | g.1232598G= | CA1148810000 | B3GALT6 | c.320G= (p.Arg107=)
| |
| 1 | g.1232598G>T | CA337824382 | B3GALT6 | c.320G>T (p.Arg107Leu)
| gnomAD v4 |
| 1 | g.1232599C>A | CA415761475 | B3GALT6 | c.321C>A (p.Arg107=)
| |
| 1 | g.1232599C= | CA1148810006 | B3GALT6 | c.321C= (p.Arg107=)
| |
| 1 | g.1232599C>G | CA415761473 | B3GALT6 | c.321C>G (p.Arg107=)
| |
| 1 | g.1232599C>T | CA16755184 | B3GALT6 | c.321C>T (p.Arg107=)
| dbSNP gnomAD v4 |
| 1 | g.1232600G>A | CA337824386 | B3GALT6 | c.322G>A (p.Ala108Thr)
| gnomAD v4 |
| 1 | g.1232600G>C | CA337824385 | B3GALT6 | c.322G>C (p.Ala108Pro)
| |
| 1 | g.1232600G>T | CA337824384 | B3GALT6 | c.322G>T (p.Ala108Ser)
| gnomAD v4 |
| 1 | g.1232601C>A | CA337824434 | B3GALT6 | c.323C>A (p.Ala108Asp)
| dbSNP gnomAD v4 |
| 1 | g.1232601C= | CA1148810014 | B3GALT6 | c.323C= (p.Ala108=)
| |
| 1 | g.1232601C>G | CA337824444 | B3GALT6 | c.323C>G (p.Ala108Gly)
| dbSNP |
| 1 | g.1232601C>T | CA337824448 | B3GALT6 | c.323C>T (p.Ala108Val)
| dbSNP gnomAD v4 |
| 1 | g.1232602C>A | CA513315 | B3GALT6 | c.324C>A (p.Ala108=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1232602C= | CA1148810018 | B3GALT6 | c.324C= (p.Ala108=)
| |
| 1 | g.1232602C>G | CA415761485 | B3GALT6 | c.324C>G (p.Ala108=)
| |
| 1 | g.1232602C>T | CA415761487 | B3GALT6 | c.324C>T (p.Ala108=)
| ClinVar gnomAD v4 |
| 1 | g.1232603C>A | CA337824460 | B3GALT6 | c.325C>A (p.Leu109Met)
| gnomAD v4 |
| 1 | g.1232603C= | CA1148810022 | B3GALT6 | c.325C= (p.Leu109=)
| |
| 1 | g.1232603C>G | CA337824463 | B3GALT6 | c.325C>G (p.Leu109Val)
| |
| 1 | g.1232603C>T | CA415761490 | B3GALT6 | c.325C>T (p.Leu109=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232604T>A | CA337824470 | B3GALT6 | c.326T>A (p.Leu109Gln)
| gnomAD v4 |
| 1 | g.1232604T>C | CA337824471 | B3GALT6 | c.326T>C (p.Leu109Pro)
| gnomAD v4 |
| 1 | g.1232604T>G | CA337824472 | B3GALT6 | c.326T>G (p.Leu109Arg)
| |
| 1 | g.1232605G>A | CA415761497 | B3GALT6 | c.327G>A (p.Leu109=)
| |
| 1 | g.1232605G>C | CA415761499 | B3GALT6 | c.327G>C (p.Leu109=)
| gnomAD v4 |
| 1 | g.1232605G>T | CA415761498 | B3GALT6 | c.327G>T (p.Leu109=)
| gnomAD v4 |
| 1 | g.1232606G>A | CA337824473 | B3GALT6 | c.328G>A (p.Glu110Lys)
| gnomAD v4 |
| 1 | g.1232606G>C | CA337824474 | B3GALT6 | c.328G>C (p.Glu110Gln)
| gnomAD v4 |
| 1 | g.1232606G>T | CA337824475 | B3GALT6 | c.328G>T (p.Glu110Ter)
| COSMIC |
| 1 | g.1232607A= | CA1148810026 | B3GALT6 | c.329A= (p.Glu110=)
| |
| 1 | g.1232607A>C | CA337824478 | B3GALT6 | c.329A>C (p.Glu110Ala)
| |
| 1 | g.1232607A>G | CA337824480 | B3GALT6 | c.329A>G (p.Glu110Gly)
| gnomAD v4 |
| 1 | g.1232607A>T | CA337824482 | B3GALT6 | c.329A>T (p.Glu110Val)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1232608G>A | CA415761504 | B3GALT6 | c.330G>A (p.Glu110=)
| gnomAD v4 |
| 1 | g.1232608G>C | CA337824485 | B3GALT6 | c.330G>C (p.Glu110Asp)
| |
| 1 | g.1232608G>T | CA337824488 | B3GALT6 | c.330G>T (p.Glu110Asp)
| gnomAD v4 |
| 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.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 |
