| 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.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 |
| 1 | g.1232531G>A | CA337823699 | B3GALT6 | c.253G>A (p.Gly85Arg)
| gnomAD v4 |
| 1 | g.1232531G>C | CA337823701 | B3GALT6 | c.253G>C (p.Gly85Arg)
| gnomAD v4 |
| 1 | g.1232531G= | CA1148809548 | B3GALT6 | c.253G= (p.Gly85=)
| |
| 1 | g.1232531G>T | CA337823702 | B3GALT6 | c.253G>T (p.Gly85Trp)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.1232534del | CA520658951 | B3GALT6 | c.256del (p.Ala86ProfsTer?)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.1232532G>A | CA337823704 | B3GALT6 | c.254G>A (p.Gly85Glu)
| gnomAD v4 |
| 1 | g.1232532G>C | CA337823706 | B3GALT6 | c.254G>C (p.Gly85Ala)
| gnomAD v4 |
| 1 | g.1232532G= | CA1148809557 | B3GALT6 | c.254G= (p.Gly85=)
| |
| 1 | g.1232532G>T | CA337823708 | B3GALT6 | c.254G>T (p.Gly85Val)
| gnomAD v4 |
| 1 | g.1232536_1232569del | CA2742143410 | B3GALT6 | c.258_291del (p.Pro87ArgfsTer?)
| |
| 1 | g.1232532_1232533insC | CA1148809583 | B3GALT6 | c.254_255insC (p.Ala86GlyfsTer?)
| dbSNP |
| 1 | g.1232533G>A | CA415761233 | B3GALT6 | c.255G>A (p.Gly85=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232533G>C | CA415761234 | B3GALT6 | c.255G>C (p.Gly85=)
| |
| 1 | g.1232533G= | CA1148809578 | B3GALT6 | c.255G= (p.Gly85=)
| |
| 1 | g.1232533G>T | CA415761236 | B3GALT6 | c.255G>T (p.Gly85=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1232534G>A | CA337823715 | B3GALT6 | c.256G>A (p.Ala86Thr)
| dbSNP gnomAD v4 |
| 1 | g.1232534G>C | CA337823711 | B3GALT6 | c.256G>C (p.Ala86Pro)
| |
| 1 | g.1232534G= | CA1148809630 | B3GALT6 | c.256G= (p.Ala86=)
| |
| 1 | g.1232534G>T | CA337823713 | B3GALT6 | c.256G>T (p.Ala86Ser)
| |
| 1 | g.1232534_1232535delinsGC | CA1148809590 | B3GALT6 | c.256_257delinsGC (p.Ala86=)
| |
| 1 | g.1232535C>A | CA337823718 | B3GALT6 | c.257C>A (p.Ala86Asp)
| gnomAD v4 |
| 1 | g.1232535C= | CA1148809641 | B3GALT6 | c.257C= (p.Ala86=)
| |
| 1 | g.1232535C>G | CA337823720 | B3GALT6 | c.257C>G (p.Ala86Gly)
| |
| 1 | g.1232535C>T | CA16755167 | B3GALT6 | c.257C>T (p.Ala86Val)
| dbSNP gnomAD v4 |
| 1 | g.1232538del | CA520658953 | B3GALT6 | c.260del (p.Pro87ArgfsTer?)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.1232536C>A | CA415761242 | B3GALT6 | c.258C>A (p.Ala86=)
| gnomAD v4 |
| 1 | g.1232536C>G | CA415761244 | B3GALT6 | c.258C>G (p.Ala86=)
| |
| 1 | g.1232536C>T | CA415761245 | B3GALT6 | c.258C>T (p.Ala86=)
| gnomAD v4 |
| 1 | g.1232538_1232633del | CA2642524554 | B3GALT6 | c.260_355del (p.Pro87_Asp118del)
| gnomAD v4 |
| 1 | g.1232537C>A | CA337823726 | B3GALT6 | c.259C>A (p.Pro87Thr)
| gnomAD v4 |
| 1 | g.1232537C>G | CA337823728 | B3GALT6 | c.259C>G (p.Pro87Ala)
| gnomAD v4 |
| 1 | g.1232537C>T | CA337823731 | B3GALT6 | c.259C>T (p.Pro87Ser)
| gnomAD v4 |
| 1 | g.1232538C>A | CA337823739 | B3GALT6 | c.260C>A (p.Pro87Gln)
| gnomAD v4 |
| 1 | g.1232538C>G | CA337823742 | B3GALT6 | c.260C>G (p.Pro87Arg)
| gnomAD v4 |
| 1 | g.1232538C>T | CA337823745 | B3GALT6 | c.260C>T (p.Pro87Leu)
| gnomAD v4 |
| 1 | g.1232538_1232539delinsCG | CA1148809644 | B3GALT6 | c.260_261delinsCG (p.Pro87=)
| |
| 1 | g.1232539G>A | CA415761251 | B3GALT6 | c.261G>A (p.Pro87=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232539G>C | CA415761250 | B3GALT6 | c.261G>C (p.Pro87=)
| |
| 1 | g.1232539G= | CA1148809649 | B3GALT6 | c.261G= (p.Pro87=)
| |
| 1 | g.1232539G>T | CA415761249 | B3GALT6 | c.261G>T (p.Pro87=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1232541del | CA997676090 | B3GALT6 | c.263del (p.Gly88AlafsTer?)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232540G>A | CA337823747 | B3GALT6 | c.262G>A (p.Gly88Ser)
| |
| 1 | g.1232540G>C | CA337823749 | B3GALT6 | c.262G>C (p.Gly88Arg)
| |
| 1 | g.1232540G>T | CA337823768 | B3GALT6 | c.262G>T (p.Gly88Cys)
| gnomAD v4 |
| 1 | g.1232541G>A | CA337823783 | B3GALT6 | c.263G>A (p.Gly88Asp)
| gnomAD v4 |
| 1 | g.1232541G>C | CA337823779 | B3GALT6 | c.263G>C (p.Gly88Ala)
| gnomAD v4 |
| 1 | g.1232541G>T | CA337823772 | B3GALT6 | c.263G>T (p.Gly88Val)
| |
| 1 | g.1232541_1232542delinsGC | CA1148809651 | B3GALT6 | c.263_264delinsGC (p.Gly88=)
| |
| 1 | g.1232542del | CA1148809658 | B3GALT6 | c.264del (p.Asp89ThrfsTer?)
| dbSNP |
| 1 | g.1232542C>A | CA415761257 | B3GALT6 | c.264C>A (p.Gly88=)
| gnomAD v4 |
| 1 | g.1232542C= | CA1148809668 | B3GALT6 | c.264C= (p.Gly88=)
| |
| 1 | g.1232542C>G | CA415761258 | B3GALT6 | c.264C>G (p.Gly88=)
| gnomAD v4 |
| 1 | g.1232542C>T | CA415761260 | B3GALT6 | c.264C>T (p.Gly88=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232543G>A | CA337823807 | B3GALT6 | c.265G>A (p.Asp89Asn)
| gnomAD v4 |
| 1 | g.1232543G>C | CA337823806 | B3GALT6 | c.265G>C (p.Asp89His)
| |
| 1 | g.1232543G>T | CA337823810 | B3GALT6 | c.265G>T (p.Asp89Tyr)
| gnomAD v4 |
| 1 | g.1232544A= | CA1148809675 | B3GALT6 | c.266A= (p.Asp89=)
| |
| 1 | g.1232544A>C | CA337823816 | B3GALT6 | c.266A>C (p.Asp89Ala)
| |
| 1 | g.1232544A>G | CA337823819 | B3GALT6 | c.266A>G (p.Asp89Gly)
| dbSNP gnomAD v4 |
| 1 | g.1232544A>T | CA337823821 | B3GALT6 | c.266A>T (p.Asp89Val)
| |
| 1 | g.1232545C>A | CA337823825 | B3GALT6 | c.267C>A (p.Asp89Glu)
| gnomAD v4 |
| 1 | g.1232545C>G | CA337823827 | B3GALT6 | c.267C>G (p.Asp89Glu)
| |
| 1 | g.1232545C>T | CA415761266 | B3GALT6 | c.267C>T (p.Asp89=)
| gnomAD v4 |
| 1 | g.1232546G>A | CA337823829 | B3GALT6 | c.268G>A (p.Val90Met)
| gnomAD v4 |
| 1 | g.1232546G>C | CA337823852 | B3GALT6 | c.268G>C (p.Val90Leu)
| |
| 1 | g.1232546G>T | CA337823860 | B3GALT6 | c.268G>T (p.Val90Leu)
| gnomAD v4 |
| 1 | g.1232547T>A | CA337823861 | B3GALT6 | c.269T>A (p.Val90Glu)
| |
| 1 | g.1232547T>C | CA337823862 | B3GALT6 | c.269T>C (p.Val90Ala)
| gnomAD v4 |
| 1 | g.1232547T>G | CA337823863 | B3GALT6 | c.269T>G (p.Val90Gly)
| dbSNP gnomAD v4 |
| 1 | g.1232547T= | CA1148809683 | B3GALT6 | c.269T= (p.Val90=)
| |
| 1 | g.1232548G>A | CA415761270 | B3GALT6 | c.270G>A (p.Val90=)
| dbSNP gnomAD v4 |
| 1 | g.1232548G>C | CA415761273 | B3GALT6 | c.270G>C (p.Val90=)
| gnomAD v4 |
| 1 | g.1232548G= | CA1148809708 | B3GALT6 | c.270G= (p.Val90=)
| |
| 1 | g.1232548G>T | CA415761275 | B3GALT6 | c.270G>T (p.Val90=)
| |
| 1 | g.1232554_1232569dup | CA2524871369 | B3GALT6 | c.276_291dup (p.Thr98AlafsTer?)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.1232549T>A | CA337823870 | B3GALT6 | c.271T>A (p.Trp91Arg)
| gnomAD v4 |
| 1 | g.1232549T>C | CA337823868 | B3GALT6 | c.271T>C (p.Trp91Arg)
| gnomAD v4 |
| 1 | g.1232549T>G | CA337823864 | B3GALT6 | c.271T>G (p.Trp91Gly)
| |
| 1 | g.1232550G>A | CA337823874 | B3GALT6 | c.272G>A (p.Trp91Ter)
| gnomAD v4 |
| 1 | g.1232550G>C | CA337823880 | B3GALT6 | c.272G>C (p.Trp91Ser)
| |
| 1 | g.1232550G>T | CA337823897 | B3GALT6 | c.272G>T (p.Trp91Leu)
| gnomAD v4 |
| 1 | g.1232552del | CA2642524583 | B3GALT6 | c.274del (p.Ala92ArgfsTer?)
| gnomAD v4 |
| 1 | g.1232551G>A | CA337823898 | B3GALT6 | c.273G>A (p.Trp91Ter)
| |
| 1 | g.1232551G>C | CA16755168 | B3GALT6 | c.273G>C (p.Trp91Cys)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232551G= | CA1148809734 | B3GALT6 | c.273G= (p.Trp91=)
| |
| 1 | g.1232551G>T | CA337823914 | B3GALT6 | c.273G>T (p.Trp91Cys)
| |
| 1 | g.1232552G>A | CA337823919 | B3GALT6 | c.274G>A (p.Ala92Thr)
| gnomAD v4 |
| 1 | g.1232552G>C | CA337823922 | B3GALT6 | c.274G>C (p.Ala92Pro)
| |
| 1 | g.1232552G>T | CA337823926 | B3GALT6 | c.274G>T (p.Ala92Ser)
| gnomAD v4 |
| 1 | g.1232553C>A | CA337823942 | B3GALT6 | c.275C>A (p.Ala92Glu)
| gnomAD v4 |
| 1 | g.1232553C= | CA1148809753 | B3GALT6 | c.275C= (p.Ala92=)
| |
| 1 | g.1232553C>G | CA337823945 | B3GALT6 | c.275C>G (p.Ala92Gly)
| |
| 1 | g.1232553C>T | CA337823948 | B3GALT6 | c.275C>T (p.Ala92Val)
| dbSNP gnomAD v4 |
| 1 | g.1232554G>A | CA415761303 | B3GALT6 | c.276G>A (p.Ala92=)
| gnomAD v4 COSMIC |
| 1 | g.1232554G>C | CA415761305 | B3GALT6 | c.276G>C (p.Ala92=)
| |
| 1 | g.1232554G>T | CA415761300 | B3GALT6 | c.276G>T (p.Ala92=)
| |
| 1 | g.1232555C>A | CA337823976 | B3GALT6 | c.277C>A (p.Arg93Ser)
| gnomAD v4 |
| 1 | g.1232555C= | CA1148809760 | B3GALT6 | c.277C= (p.Arg93=)
| |
| 1 | g.1232555C>G | CA337823979 | B3GALT6 | c.277C>G (p.Arg93Gly)
| |
| 1 | g.1232555C>T | CA337823972 | B3GALT6 | c.277C>T (p.Arg93Cys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1232556G>A | CA337823981 | B3GALT6 | c.278G>A (p.Arg93His)
| dbSNP gnomAD v4 |
| 1 | g.1232556G>C | CA337823983 | B3GALT6 | c.278G>C (p.Arg93Pro)
| |
| 1 | g.1232556G= | CA1148809766 | B3GALT6 | c.278G= (p.Arg93=)
| |
| 1 | g.1232556G>T | CA337823984 | B3GALT6 | c.278G>T (p.Arg93Leu)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232557C>A | CA415761312 | B3GALT6 | c.279C>A (p.Arg93=)
| gnomAD v4 |
| 1 | g.1232557C= | CA1148809779 | B3GALT6 | c.279C= (p.Arg93=)
| |
| 1 | g.1232557C>G | CA415761313 | B3GALT6 | c.279C>G (p.Arg93=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232557C>T | CA415761314 | B3GALT6 | c.279C>T (p.Arg93=)
| gnomAD v4 |
| 1 | g.1232558T>A | CA337823985 | B3GALT6 | c.280T>A (p.Phe94Ile)
| |
| 1 | g.1232558T>C | CA337823986 | B3GALT6 | c.280T>C (p.Phe94Leu)
| |
| 1 | g.1232558T>G | CA337823988 | B3GALT6 | c.280T>G (p.Phe94Val)
| |
| 1 | g.1232560del | CA2642524599 | B3GALT6 | c.282del (p.Phe94LeufsTer?)
| gnomAD v4 |
| 1 | g.1232559T>A | CA337824000 | B3GALT6 | c.281T>A (p.Phe94Tyr)
| |
| 1 | g.1232559T>C | CA337823992 | B3GALT6 | c.281T>C (p.Phe94Ser)
| |
| 1 | g.1232559T>G | CA337823996 | B3GALT6 | c.281T>G (p.Phe94Cys)
| |
| 1 | g.1232560T>A | CA337824006 | B3GALT6 | c.282T>A (p.Phe94Leu)
| |
| 1 | g.1232560T>C | CA415761319 | B3GALT6 | c.282T>C (p.Phe94=)
| |
| 1 | g.1232560T>G | CA337824008 | B3GALT6 | c.282T>G (p.Phe94Leu)
| |
| 1 | g.1232561G>A | CA337824011 | B3GALT6 | c.283G>A (p.Ala95Thr)
| gnomAD v4 |
| 1 | g.1232561G>C | CA337824014 | B3GALT6 | c.283G>C (p.Ala95Pro)
| gnomAD v4 |
| 1 | g.1232561G= | CA1148809789 | B3GALT6 | c.283G= (p.Ala95=)
| |
| 1 | g.1232561G>T | CA337824028 | B3GALT6 | c.283G>T (p.Ala95Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1232562C>A | CA337824032 | B3GALT6 | c.284C>A (p.Ala95Asp)
| gnomAD v4 |
| 1 | g.1232562C>G | CA337824040 | B3GALT6 | c.284C>G (p.Ala95Gly)
| |
| 1 | g.1232562C>T | CA337824035 | B3GALT6 | c.284C>T (p.Ala95Val)
| gnomAD v4 |
| 1 | g.1232563C>A | CA415761325 | B3GALT6 | c.285C>A (p.Ala95=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.1232563C= | CA1148809816 | B3GALT6 | c.285C= (p.Ala95=)
| |
| 1 | g.1232563C>G | CA415761327 | B3GALT6 | c.285C>G (p.Ala95=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.1232563C>T | CA415761328 | B3GALT6 | c.285C>T (p.Ala95=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232564G>A | CA16755172 | B3GALT6 | c.286G>A (p.Val96Met)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232564G>C | CA337824047 | B3GALT6 | c.286G>C (p.Val96Leu)
| gnomAD v4 |
| 1 | g.1232564G= | CA1148809823 | B3GALT6 | c.286G= (p.Val96=)
| |
| 1 | g.1232564G>T | CA337824050 | B3GALT6 | c.286G>T (p.Val96Leu)
| COSMIC |
| 1 | g.1232565T>A | CA337824053 | B3GALT6 | c.287T>A (p.Val96Glu)
| |
| 1 | g.1232565T>C | CA337824055 | B3GALT6 | c.287T>C (p.Val96Ala)
| gnomAD v4 |
| 1 | g.1232565T>G | CA337824062 | B3GALT6 | c.287T>G (p.Val96Gly)
| |
| 1 | g.1232566G>A | CA415761336 | B3GALT6 | c.288G>A (p.Val96=)
| gnomAD v4 |
| 1 | g.1232566G>C | CA415761338 | B3GALT6 | c.288G>C (p.Val96=)
| |
| 1 | g.1232566G>T | CA415761339 | B3GALT6 | c.288G>T (p.Val96=)
| gnomAD v4 |
| 1 | g.1232568del | CA2642524625 | B3GALT6 | c.290del (p.Gly97AlafsTer?)
| gnomAD v4 |
| 1 | g.1232567G>A | CA337824065 | B3GALT6 | c.289G>A (p.Gly97Ser)
| dbSNP gnomAD v4 |
| 1 | g.1232567G>C | CA337824069 | B3GALT6 | c.289G>C (p.Gly97Arg)
| |
| 1 | g.1232567G= | CA1148809836 | B3GALT6 | c.289G= (p.Gly97=)
| |
| 1 | g.1232567G>T | CA337824072 | B3GALT6 | c.289G>T (p.Gly97Cys)
| |
| 1 | g.1232568G>A | CA337824078 | B3GALT6 | c.290G>A (p.Gly97Asp)
| gnomAD v4 |
| 1 | g.1232568G>C | CA337824081 | B3GALT6 | c.290G>C (p.Gly97Ala)
| |
| 1 | g.1232568G>T | CA337824095 | B3GALT6 | c.290G>T (p.Gly97Val)
| gnomAD v4 |
| 1 | g.1232569C>A | CA415761348 | B3GALT6 | c.291C>A (p.Gly97=)
| gnomAD v4 |
| 1 | g.1232569C= | CA1148809840 | B3GALT6 | c.291C= (p.Gly97=)
| |
| 1 | g.1232569C>G | CA415761349 | B3GALT6 | c.291C>G (p.Gly97=)
| |
| 1 | g.1232569C>T | CA415761350 | B3GALT6 | c.291C>T (p.Gly97=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232570A>C | CA337824102 | B3GALT6 | c.292A>C (p.Thr98Pro)
| |
| 1 | g.1232570A>G | CA337824106 | B3GALT6 | c.292A>G (p.Thr98Ala)
| |
| 1 | g.1232570A>T | CA337824098 | B3GALT6 | c.292A>T (p.Thr98Ser)
| |
| 1 | g.1232571C>A | CA337824109 | B3GALT6 | c.293C>A (p.Thr98Lys)
| gnomAD v4 |
| 1 | g.1232571C= | CA1148809864 | B3GALT6 | c.293C= (p.Thr98=)
| |
| 1 | g.1232571C>G | CA337824117 | B3GALT6 | c.293C>G (p.Thr98Arg)
| |
| 1 | g.1232571C>T | CA337824115 | B3GALT6 | c.293C>T (p.Thr98Met)
| dbSNP gnomAD v4 |
| 1 | g.1232572G>A | CA415761361 | B3GALT6 | c.294G>A (p.Thr98=)
| dbSNP gnomAD v4 |
| 1 | g.1232572G>C | CA415761362 | B3GALT6 | c.294G>C (p.Thr98=)
| gnomAD v4 |
| 1 | g.1232572G= | CA1148809875 | B3GALT6 | c.294G= (p.Thr98=)
| |
| 1 | g.1232572G>T | CA415761364 | B3GALT6 | c.294G>T (p.Thr98=)
| dbSNP |
| 1 | g.1232573G>A | CA337824119 | B3GALT6 | c.295G>A (p.Ala99Thr)
| gnomAD v4 |
| 1 | g.1232573G>C | CA337824189 | B3GALT6 | c.295G>C (p.Ala99Pro)
| |
| 1 | g.1232573G>T | CA337824184 | B3GALT6 | c.295G>T (p.Ala99Ser)
| gnomAD v4 |
| 1 | g.1232574C>A | CA337824192 | B3GALT6 | c.296C>A (p.Ala99Asp)
| gnomAD v4 |
| 1 | g.1232574C>G | CA337824193 | B3GALT6 | c.296C>G (p.Ala99Gly)
| |
| 1 | g.1232574C>T | CA337824197 | B3GALT6 | c.296C>T (p.Ala99Val)
| gnomAD v4 |
| 1 | g.1232575del | CA2642524649 | B3GALT6 | c.297del (p.Gly100AlafsTer?)
| gnomAD v4 |
| 1 | g.1232575C>A | CA415761382 | B3GALT6 | c.297C>A (p.Ala99=)
| gnomAD v4 |
| 1 | g.1232575C>G | CA415761384 | B3GALT6 | c.297C>G (p.Ala99=)
| COSMIC |
| 1 | g.1232575C>T | CA415761383 | B3GALT6 | c.297C>T (p.Ala99=)
| gnomAD v4 |
| 1 | g.1232576G>A | CA337824210 | B3GALT6 | c.298G>A (p.Gly100Ser)
| gnomAD v4 |
| 1 | g.1232576G>C | CA337824212 | B3GALT6 | c.298G>C (p.Gly100Arg)
| |
| 1 | g.1232576G>T | CA337824217 | B3GALT6 | c.298G>T (p.Gly100Cys)
| |
| 1 | g.1232577G>A | CA337824220 | B3GALT6 | c.299G>A (p.Gly100Asp)
| gnomAD v4 |
| 1 | g.1232577G>C | CA337824222 | B3GALT6 | c.299G>C (p.Gly100Ala)
| |
| 1 | g.1232577G= | CA1148809884 | B3GALT6 | c.299G= (p.Gly100=)
| |
| 1 | g.1232577G>T | CA337824225 | B3GALT6 | c.299G>T (p.Gly100Val)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.1232578C>A | CA415761394 | B3GALT6 | c.300C>A (p.Gly100=)
| gnomAD v4 |
| 1 | g.1232578C= | CA1148809898 | B3GALT6 | c.300C= (p.Gly100=)
| |
| 1 | g.1232578C>G | CA415761396 | B3GALT6 | c.300C>G (p.Gly100=)
| |
| 1 | g.1232578C>T | CA415761398 | B3GALT6 | c.300C>T (p.Gly100=)
| dbSNP gnomAD v4 |
| 1 | g.1232579C>A | CA337824229 | B3GALT6 | c.301C>A (p.Leu101Met)
| gnomAD v4 |
| 1 | g.1232579C>G | CA337824230 | B3GALT6 | c.301C>G (p.Leu101Val)
| |
| 1 | g.1232579C>T | CA415761402 | B3GALT6 | c.301C>T (p.Leu101=)
| gnomAD v4 |
| 1 | g.1232580T>A | CA337824232 | B3GALT6 | c.302T>A (p.Leu101Gln)
| |
| 1 | g.1232580T>C | CA337824235 | B3GALT6 | c.302T>C (p.Leu101Pro)
| |
| 1 | g.1232580T>G | CA337824234 | B3GALT6 | c.302T>G (p.Leu101Arg)
| |
| 1 | g.1232581G>A | CA415761405 | B3GALT6 | c.303G>A (p.Leu101=)
| gnomAD v4 |
| 1 | g.1232581G>C | CA415761406 | B3GALT6 | c.303G>C (p.Leu101=)
| |
| 1 | g.1232581G>T | CA415761407 | B3GALT6 | c.303G>T (p.Leu101=)
| gnomAD v4 |
| 1 | g.1232582G>A | CA337824238 | B3GALT6 | c.304G>A (p.Gly102Ser)
| gnomAD v4 |
| 1 | g.1232582G>C | CA337824240 | B3GALT6 | c.304G>C (p.Gly102Arg)
| |
| 1 | g.1232582G>T | CA337824243 | B3GALT6 | c.304G>T (p.Gly102Cys)
| gnomAD v4 |
| 1 | g.1232583G>A | CA513314 | B3GALT6 | c.305G>A (p.Gly102Asp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.1232583G>C | CA337824286 | B3GALT6 | c.305G>C (p.Gly102Ala)
| |
| 1 | g.1232583G= | CA1148809906 | B3GALT6 | c.305G= (p.Gly102=)
| |
| 1 | g.1232583G>T | CA337824290 | B3GALT6 | c.305G>T (p.Gly102Val)
| |
| 1 | g.1232584C>A | CA415761422 | B3GALT6 | c.306C>A (p.Gly102=)
| gnomAD v4 |
| 1 | g.1232584C>G | CA415761417 | B3GALT6 | c.306C>G (p.Gly102=)
| |
| 1 | g.1232584C>T | CA415761415 | B3GALT6 | c.306C>T (p.Gly102=)
| gnomAD v4 |
| 1 | g.1232585G>A | CA337824292 | B3GALT6 | c.307G>A (p.Ala103Thr)
| gnomAD v4 |
| 1 | g.1232585G>C | CA337824297 | B3GALT6 | c.307G>C (p.Ala103Pro)
| |
| 1 | g.1232585G>T | CA337824300 | B3GALT6 | c.307G>T (p.Ala103Ser)
| 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 |
