Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.1232471_1232528delinsAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGC | CA1148809196 | B3GALT6 | c.193_250delinsAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGC (p.Ser65=) | |
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.1232489_1232519dup | CA2642524451 | B3GALT6 | c.211_241dup (p.Leu81ArgfsTer?) | gnomAD v4 |
1 | g.1232491_1232505dup | CA520658935 | B3GALT6 | c.213_227dup (p.Val75_Ile76insMetArgArgSerVal) | dbSNP gnomAD v2 |
1 | g.1232495_1232509dup | CA997676025 | B3GALT6 | c.217_231dup (p.Arg77_Ser78insArgSerValIleArg) | ClinVar dbSNP gnomAD v3 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=) |