Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.1232589_1232604delinsAGGAGCGGCGCGCCCT | CA1148809940 | B3GALT6 | c.311_326delinsAGGAGCGGCGCGCCCT (p.Glu104=) | |
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.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 |