| 1 | g.1232371C>A | CA415378757 | B3GALT6 | c.93C>A (p.Arg31=)
| gnomAD v4 |
| 1 | g.1232371C= | CA1148808418 | B3GALT6 | c.93C= (p.Arg31=)
| |
| 1 | g.1232371C>G | CA415378759 | B3GALT6 | c.93C>G (p.Arg31=)
| dbSNP gnomAD v4 |
| 1 | g.1232371C>T | CA415378758 | B3GALT6 | c.93C>T (p.Arg31=)
| gnomAD v4 |
| 1 | g.1232372T>A | CA337822337 | B3GALT6 | c.94T>A (p.Cys32Ser)
| |
| 1 | g.1232372T>C | CA337822341 | B3GALT6 | c.94T>C (p.Cys32Arg)
| gnomAD v4 |
| 1 | g.1232372T>G | CA337822376 | B3GALT6 | c.94T>G (p.Cys32Gly)
| |
| 1 | g.1232373G>A | CA337822378 | B3GALT6 | c.95G>A (p.Cys32Tyr)
| gnomAD v4 |
| 1 | g.1232373G>C | CA337822384 | B3GALT6 | c.95G>C (p.Cys32Ser)
| dbSNP gnomAD v4 |
| 1 | g.1232373G= | CA1148808423 | B3GALT6 | c.95G= (p.Cys32=)
| |
| 1 | g.1232373G>T | CA337822386 | B3GALT6 | c.95G>T (p.Cys32Phe)
| gnomAD v4 |
| 1 | g.1232374C>A | CA337822389 | B3GALT6 | c.96C>A (p.Cys32Ter)
| gnomAD v4 |
| 1 | g.1232374C= | CA1148808431 | B3GALT6 | c.96C= (p.Cys32=)
| |
| 1 | g.1232374C>G | CA337822397 | B3GALT6 | c.96C>G (p.Cys32Trp)
| dbSNP gnomAD v4 |
| 1 | g.1232374C>T | CA415378760 | B3GALT6 | c.96C>T (p.Cys32=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.1232375G>A | CA337822430 | B3GALT6 | c.97G>A (p.Ala33Thr)
| gnomAD v4 |
| 1 | g.1232375G>C | CA337822431 | B3GALT6 | c.97G>C (p.Ala33Pro)
| gnomAD v4 |
| 1 | g.1232375G>T | CA337822432 | B3GALT6 | c.97G>T (p.Ala33Ser)
| gnomAD v4 |
| 1 | g.1232376C>A | CA337822439 | B3GALT6 | c.98C>A (p.Ala33Glu)
| gnomAD v4 |
| 1 | g.1232376C>G | CA337822441 | B3GALT6 | c.98C>G (p.Ala33Gly)
| |
| 1 | g.1232376C>T | CA337822435 | B3GALT6 | c.98C>T (p.Ala33Val)
| gnomAD v4 |
| 1 | g.1232377G>A | CA415378761 | B3GALT6 | c.99G>A (p.Ala33=)
| dbSNP gnomAD v4 |
| 1 | g.1232377G>C | CA415378762 | B3GALT6 | c.99G>C (p.Ala33=)
| dbSNP gnomAD v4 |
| 1 | g.1232377G= | CA1148808435 | B3GALT6 | c.99G= (p.Ala33=)
| |
| 1 | g.1232377G>T | CA415378763 | B3GALT6 | c.99G>T (p.Ala33=)
| gnomAD v4 |
| 1 | g.1232377_1232378insAC | CA997675854 | B3GALT6 | c.99_100insAC (p.Ala34ThrfsTer?)
| gnomAD v3 gnomAD v4 |
| 1 | g.1232378G>A | CA337822442 | B3GALT6 | c.100G>A (p.Ala34Thr)
| gnomAD v4 |
| 1 | g.1232378G>C | CA337822444 | B3GALT6 | c.100G>C (p.Ala34Pro)
| |
| 1 | g.1232378G>T | CA337822447 | B3GALT6 | c.100G>T (p.Ala34Ser)
| gnomAD v3 gnomAD v4 |
| 1 | g.1232379C>A | CA337822450 | B3GALT6 | c.101C>A (p.Ala34Asp)
| gnomAD v4 |
| 1 | g.1232379C= | CA1148808439 | B3GALT6 | c.101C= (p.Ala34=)
| |
| 1 | g.1232379C>G | CA337822451 | B3GALT6 | c.101C>G (p.Ala34Gly)
| |
| 1 | g.1232379C>T | CA337822452 | B3GALT6 | c.101C>T (p.Ala34Val)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.1232380_1232381insTACGAAAACC | CA2552997140 | B3GALT6 | c.102_103insTACGAAAACC (p.Glu35TyrfsTer?)
| |
| 1 | g.1232380C>A | CA415378764 | B3GALT6 | c.102C>A (p.Ala34=)
| gnomAD v4 |
| 1 | g.1232380C= | CA1148808444 | B3GALT6 | c.102C= (p.Ala34=)
| |
| 1 | g.1232380C>G | CA415378765 | B3GALT6 | c.102C>G (p.Ala34=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.1232380C>T | CA415378766 | B3GALT6 | c.102C>T (p.Ala34=)
| gnomAD v4 |
| 1 | g.1232380_1232381insTACGAAAACCTC | CA2499311373 | B3GALT6 | c.102_103insTACGAAAACCTC (p.Ala34_Glu35insTyrGluAsnLeu)
| |
| 1 | g.1232381G>A | CA16755080 | B3GALT6 | c.103G>A (p.Glu35Lys)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232381G>C | CA337822454 | B3GALT6 | c.103G>C (p.Glu35Gln)
| |
| 1 | g.1232381G= | CA1140428454 | B3GALT6 | c.103G= (p.Glu35=)
| |
| 1 | g.1232381G>T | CA337822456 | B3GALT6 | c.103G>T (p.Glu35Ter)
| gnomAD v4 |
| 1 | g.1232382A>C | CA337822458 | B3GALT6 | c.104A>C (p.Glu35Ala)
| gnomAD v4 |
| 1 | g.1232382A>G | CA337822460 | B3GALT6 | c.104A>G (p.Glu35Gly)
| gnomAD v4 |
| 1 | g.1232382A>T | CA337822462 | B3GALT6 | c.104A>T (p.Glu35Val)
| |
| 1 | g.1232388_1232419del | CA2642524121 | B3GALT6 | c.110_141del (p.Gly37AlafsTer?)
| gnomAD v4 |
| 1 | g.1232383G>A | CA415378767 | B3GALT6 | c.105G>A (p.Glu35=)
| gnomAD v4 |
| 1 | g.1232383G>C | CA337822467 | B3GALT6 | c.105G>C (p.Glu35Asp)
| |
| 1 | g.1232383G>T | CA337822498 | B3GALT6 | c.105G>T (p.Glu35Asp)
| gnomAD v4 |
| 1 | g.1232384C>A | CA337822504 | B3GALT6 | c.106C>A (p.Pro36Thr)
| gnomAD v4 |
| 1 | g.1232384C= | CA1148808451 | B3GALT6 | c.106C= (p.Pro36=)
| |
| 1 | g.1232384C>G | CA337822510 | B3GALT6 | c.106C>G (p.Pro36Ala)
| gnomAD v4 |
| 1 | g.1232384C>T | CA337822505 | B3GALT6 | c.106C>T (p.Pro36Ser)
| dbSNP gnomAD v4 |
| 1 | g.1232386del | CA2642524128 | B3GALT6 | c.108del (p.Asp38ThrfsTer?)
| gnomAD v4 |
| 1 | g.1232385C>A | CA337822511 | B3GALT6 | c.107C>A (p.Pro36His)
| gnomAD v4 |
| 1 | g.1232385C= | CA1147387185 | B3GALT6 | c.107C= (p.Pro36=)
| |
| 1 | g.1232385C>G | CA337822513 | B3GALT6 | c.107C>G (p.Pro36Arg)
| |
| 1 | g.1232385C>T | CA16603425 | B3GALT6 | c.107C>T (p.Pro36Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1232386C>A | CA415760758 | B3GALT6 | c.108C>A (p.Pro36=)
| gnomAD v4 |
| 1 | g.1232386C= | CA1148808476 | B3GALT6 | c.108C= (p.Pro36=)
| |
| 1 | g.1232386C>G | CA415760759 | B3GALT6 | c.108C>G (p.Pro36=)
| dbSNP |
| 1 | g.1232386C>T | CA415760761 | B3GALT6 | c.108C>T (p.Pro36=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232386_1232387delinsCG | CA1148808463 | B3GALT6 | c.108_109delinsCG (p.Pro36=)
| |
| 1 | g.1232387G>A | CA16755086 | B3GALT6 | c.109G>A (p.Gly37Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1232387G>C | CA16755093 | B3GALT6 | c.109G>C (p.Gly37Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1232387G= | CA1148808490 | B3GALT6 | c.109G= (p.Gly37=)
| |
| 1 | g.1232387G>T | CA337822525 | B3GALT6 | c.109G>T (p.Gly37Trp)
| gnomAD v4 |
| 1 | g.1232390del | CA520658930 | B3GALT6 | c.112del (p.Asp38ThrfsTer?)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.1232388G>A | CA16755096 | B3GALT6 | c.110G>A (p.Gly37Glu)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1232388G>C | CA337822531 | B3GALT6 | c.110G>C (p.Gly37Ala)
| gnomAD v4 |
| 1 | g.1232388G= | CA1148808504 | B3GALT6 | c.110G= (p.Gly37=)
| |
| 1 | g.1232388G>T | CA337822534 | B3GALT6 | c.110G>T (p.Gly37Val)
| gnomAD v4 |
| 1 | g.1232389G>A | CA415760768 | B3GALT6 | c.111G>A (p.Gly37=)
| dbSNP gnomAD v4 |
| 1 | g.1232389G>C | CA415760769 | B3GALT6 | c.111G>C (p.Gly37=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1232389G= | CA1148808538 | B3GALT6 | c.111G= (p.Gly37=)
| |
| 1 | g.1232389G>T | CA415760770 | B3GALT6 | c.111G>T (p.Gly37=)
| gnomAD v4 |
| 1 | g.1232390G>A | CA337822537 | B3GALT6 | c.112G>A (p.Asp38Asn)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232390G>C | CA337822547 | B3GALT6 | c.112G>C (p.Asp38His)
| gnomAD v4 |
| 1 | g.1232390G= | CA1148808546 | B3GALT6 | c.112G= (p.Asp38=)
| |
| 1 | g.1232390G>T | CA337822550 | B3GALT6 | c.112G>T (p.Asp38Tyr)
| gnomAD v4 |
| 1 | g.1232391A= | CA1148808552 | B3GALT6 | c.113A= (p.Asp38=)
| |
| 1 | g.1232391A>C | CA337822556 | B3GALT6 | c.113A>C (p.Asp38Ala)
| gnomAD v4 |
| 1 | g.1232391A>G | CA10796659 | B3GALT6 | c.113A>G (p.Asp38Gly)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.1232391A>T | CA337822554 | B3GALT6 | c.113A>T (p.Asp38Val)
| |
| 1 | g.1232391_1232392delinsAC | CA1148808558 | B3GALT6 | c.113_114delinsAC (p.Asp38=)
| |
| 1 | g.1232392C>A | CA337822558 | B3GALT6 | c.114C>A (p.Asp38Glu)
| gnomAD v4 |
| 1 | g.1232392C= | CA1148808570 | B3GALT6 | c.114C= (p.Asp38=)
| |
| 1 | g.1232392C>G | CA337822559 | B3GALT6 | c.114C>G (p.Asp38Glu)
| gnomAD v4 |
| 1 | g.1232392C>T | CA415760780 | B3GALT6 | c.114C>T (p.Asp38=)
| dbSNP gnomAD v4 |
| 1 | g.1232395del | CA520658931 | B3GALT6 | c.117del (p.Arg40GlyfsTer?)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.1232393C>A | CA337822561 | B3GALT6 | c.115C>A (p.Pro39Thr)
| gnomAD v4 |
| 1 | g.1232393C= | CA1148808571 | B3GALT6 | c.115C= (p.Pro39=)
| |
| 1 | g.1232393C>G | CA337822562 | B3GALT6 | c.115C>G (p.Pro39Ala)
| |
| 1 | g.1232393C>T | CA337822605 | B3GALT6 | c.115C>T (p.Pro39Ser)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232394C>A | CA337822607 | B3GALT6 | c.116C>A (p.Pro39His)
| gnomAD v4 |
| 1 | g.1232394C= | CA1148808575 | B3GALT6 | c.116C= (p.Pro39=)
| |
| 1 | g.1232394C>G | CA337822609 | B3GALT6 | c.116C>G (p.Pro39Arg)
| gnomAD v4 |
| 1 | g.1232394C>T | CA337822611 | B3GALT6 | c.116C>T (p.Pro39Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1232395C>A | CA415760787 | B3GALT6 | c.117C>A (p.Pro39=)
| gnomAD v4 |
| 1 | g.1232395C>G | CA415760788 | B3GALT6 | c.117C>G (p.Pro39=)
| gnomAD v4 |
| 1 | g.1232395C>T | CA415760789 | B3GALT6 | c.117C>T (p.Pro39=)
| gnomAD v4 |
| 1 | g.1232396A>C | CA415760791 | B3GALT6 | c.118A>C (p.Arg40=)
| |
| 1 | g.1232396A>G | CA337822612 | B3GALT6 | c.118A>G (p.Arg40Gly)
| gnomAD v4 |
| 1 | g.1232396A>T | CA337822615 | B3GALT6 | c.118A>T (p.Arg40Trp)
| gnomAD v4 |
| 1 | g.1232396_1232397delinsAG | CA1148808578 | B3GALT6 | c.118_119delinsAG (p.Arg40=)
| |
| 1 | g.1232397G>A | CA337822617 | B3GALT6 | c.119G>A (p.Arg40Lys)
| dbSNP gnomAD v4 |
| 1 | g.1232397G>C | CA337822618 | B3GALT6 | c.119G>C (p.Arg40Thr)
| |
| 1 | g.1232397G>T | CA337822619 | B3GALT6 | c.119G>T (p.Arg40Met)
| gnomAD v4 |
| 1 | g.1232399del | CA886925308 | B3GALT6 | c.121del (p.Ala41ArgfsTer?)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232398G>A | CA415760796 | B3GALT6 | c.120G>A (p.Arg40=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232398G>C | CA337822622 | B3GALT6 | c.120G>C (p.Arg40Ser)
| |
| 1 | g.1232398G= | CA1148808596 | B3GALT6 | c.120G= (p.Arg40=)
| |
| 1 | g.1232398G>T | CA337822624 | B3GALT6 | c.120G>T (p.Arg40Ser)
| gnomAD v4 |
| 1 | g.1232399G>A | CA337822634 | B3GALT6 | c.121G>A (p.Ala41Thr)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232399G>C | CA337822626 | B3GALT6 | c.121G>C (p.Ala41Pro)
| |
| 1 | g.1232399G>T | CA337822629 | B3GALT6 | c.121G>T (p.Ala41Ser)
| gnomAD v4 |
| 1 | g.1232400C>A | CA337822635 | B3GALT6 | c.122C>A (p.Ala41Glu)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.1232400C= | CA1148808604 | B3GALT6 | c.122C= (p.Ala41=)
| |
| 1 | g.1232400C>G | CA337822636 | B3GALT6 | c.122C>G (p.Ala41Gly)
| gnomAD v4 |
| 1 | g.1232400C>T | CA337822659 | B3GALT6 | c.122C>T (p.Ala41Val)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1232401G>A | CA415760803 | B3GALT6 | c.123G>A (p.Ala41=)
| gnomAD v4 |
| 1 | g.1232401G>C | CA415760805 | B3GALT6 | c.123G>C (p.Ala41=)
| |
| 1 | g.1232401G>T | CA415760804 | B3GALT6 | c.123G>T (p.Ala41=)
| gnomAD v4 |
| 1 | g.1232402A>C | CA337822662 | B3GALT6 | c.124A>C (p.Met42Leu)
| |
| 1 | g.1232402A>G | CA337822669 | B3GALT6 | c.124A>G (p.Met42Val)
| gnomAD v4 |
| 1 | g.1232402A>T | CA337822671 | B3GALT6 | c.124A>T (p.Met42Leu)
| |
| 1 | g.1232403T>A | CA337822672 | B3GALT6 | c.125T>A (p.Met42Lys)
| |
| 1 | g.1232403T>C | CA337822673 | B3GALT6 | c.125T>C (p.Met42Thr)
| dbSNP gnomAD v4 |
| 1 | g.1232403T>G | CA337822675 | B3GALT6 | c.125T>G (p.Met42Arg)
| gnomAD v4 |
| 1 | g.1232403T= | CA1148808629 | B3GALT6 | c.125T= (p.Met42=)
| |
| 1 | g.1232404G>A | CA337822678 | B3GALT6 | c.126G>A (p.Met42Ile)
| gnomAD v4 |
| 1 | g.1232404G>C | CA337822683 | B3GALT6 | c.126G>C (p.Met42Ile)
| |
| 1 | g.1232404G>T | CA337822686 | B3GALT6 | c.126G>T (p.Met42Ile)
| gnomAD v4 |
| 1 | g.1232405T>A | CA337822696 | B3GALT6 | c.127T>A (p.Ser43Thr)
| |
| 1 | g.1232405T>C | CA337822692 | B3GALT6 | c.127T>C (p.Ser43Pro)
| gnomAD v4 |
| 1 | g.1232405T>G | CA337822690 | B3GALT6 | c.127T>G (p.Ser43Ala)
| |
| 1 | g.1232406del | CA2742143409 | B3GALT6 | c.128del (p.Ser43TrpfsTer?)
| |
| 1 | g.1232406C>A | CA337822710 | B3GALT6 | c.128C>A (p.Ser43Ter)
| gnomAD v4 |
| 1 | g.1232406C= | CA1148808647 | B3GALT6 | c.128C= (p.Ser43=)
| |
| 1 | g.1232406C>G | CA337822708 | B3GALT6 | c.128C>G (p.Ser43Trp)
| |
| 1 | g.1232406C>T | CA337822709 | B3GALT6 | c.128C>T (p.Ser43Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.1232407G>A | CA16755107 | B3GALT6 | c.129G>A (p.Ser43=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.1232407G>C | CA415760812 | B3GALT6 | c.129G>C (p.Ser43=)
| |
| 1 | g.1232407G= | CA1148808662 | B3GALT6 | c.129G= (p.Ser43=)
| |
| 1 | g.1232407G>T | CA415760811 | B3GALT6 | c.129G>T (p.Ser43=)
| dbSNP gnomAD v4 |
| 1 | g.1232408G>A | CA337822711 | B3GALT6 | c.130G>A (p.Gly44Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1232408G>C | CA337822712 | B3GALT6 | c.130G>C (p.Gly44Arg)
| |
| 1 | g.1232408G= | CA1148808666 | B3GALT6 | c.130G= (p.Gly44=)
| |
| 1 | g.1232408G>T | CA337822714 | B3GALT6 | c.130G>T (p.Gly44Cys)
| gnomAD v4 |
| 1 | g.1232409G>A | CA337822738 | B3GALT6 | c.131G>A (p.Gly44Asp)
| gnomAD v4 |
| 1 | g.1232409G>C | CA337822717 | B3GALT6 | c.131G>C (p.Gly44Ala)
| gnomAD v4 |
| 1 | g.1232409G>T | CA337822716 | B3GALT6 | c.131G>T (p.Gly44Val)
| gnomAD v4 |
| 1 | g.1232410C>A | CA415760814 | B3GALT6 | c.132C>A (p.Gly44=)
| gnomAD v4 |
| 1 | g.1232410C>G | CA415760815 | B3GALT6 | c.132C>G (p.Gly44=)
| |
| 1 | g.1232410C>T | CA415760816 | B3GALT6 | c.132C>T (p.Gly44=)
| gnomAD v4 |
| 1 | g.1232411C>A | CA337822741 | B3GALT6 | c.133C>A (p.Arg45Ser)
| gnomAD v4 |
| 1 | g.1232411C= | CA1148808669 | B3GALT6 | c.133C= (p.Arg45=)
| |
| 1 | g.1232411C>G | CA337822743 | B3GALT6 | c.133C>G (p.Arg45Gly)
| |
| 1 | g.1232411C>T | CA337822746 | B3GALT6 | c.133C>T (p.Arg45Cys)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232412del | CA2549901734 | B3GALT6 | c.134del (p.Arg45ProfsTer?)
| gnomAD v4 |
| 1 | g.1232412G>A | CA337822750 | B3GALT6 | c.134G>A (p.Arg45His)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.1232412G>C | CA337822754 | B3GALT6 | c.134G>C (p.Arg45Pro)
| |
| 1 | g.1232412G= | CA1148808674 | B3GALT6 | c.134G= (p.Arg45=)
| |
| 1 | g.1232412G>T | CA337822757 | B3GALT6 | c.134G>T (p.Arg45Leu)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232413C>A | CA415760820 | B3GALT6 | c.135C>A (p.Arg45=)
| gnomAD v4 |
| 1 | g.1232413C= | CA1148808678 | B3GALT6 | c.135C= (p.Arg45=)
| |
| 1 | g.1232413C>G | CA415760821 | B3GALT6 | c.135C>G (p.Arg45=)
| dbSNP gnomAD v4 |
| 1 | g.1232413C>T | CA415760822 | B3GALT6 | c.135C>T (p.Arg45=)
| gnomAD v4 |
| 1 | g.1232414A= | CA1148808687 | B3GALT6 | c.136A= (p.Ser46=)
| |
| 1 | g.1232414A>C | CA337822758 | B3GALT6 | c.136A>C (p.Ser46Arg)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232414A>G | CA337822762 | B3GALT6 | c.136A>G (p.Ser46Gly)
| gnomAD v4 |
| 1 | g.1232414A>T | CA337822760 | B3GALT6 | c.136A>T (p.Ser46Cys)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232415G>A | CA337822764 | B3GALT6 | c.137G>A (p.Ser46Asn)
| gnomAD v4 |
| 1 | g.1232415G>C | CA337822766 | B3GALT6 | c.137G>C (p.Ser46Thr)
| |
| 1 | g.1232415G>T | CA337822767 | B3GALT6 | c.137G>T (p.Ser46Ile)
| gnomAD v4 |
| 1 | g.1232416C>A | CA337822769 | B3GALT6 | c.138C>A (p.Ser46Arg)
| gnomAD v4 |
| 1 | g.1232416C= | CA1143169063 | B3GALT6 | c.138C= (p.Ser46=)
| |
| 1 | g.1232416C>G | CA337822770 | B3GALT6 | c.138C>G (p.Ser46Arg)
| gnomAD v4 |
| 1 | g.1232416C>T | CA200611 | B3GALT6 | c.138C>T (p.Ser46=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1232417C>A | CA337822773 | B3GALT6 | c.139C>A (p.Pro47Thr)
| gnomAD v4 |
| 1 | g.1232417C>G | CA337822774 | B3GALT6 | c.139C>G (p.Pro47Ala)
| |
| 1 | g.1232417C>T | CA337822777 | B3GALT6 | c.139C>T (p.Pro47Ser)
| gnomAD v4 |
| 1 | g.1232418C>A | CA337822779 | B3GALT6 | c.140C>A (p.Pro47Gln)
| gnomAD v4 |
| 1 | g.1232418C= | CA1148808721 | B3GALT6 | c.140C= (p.Pro47=)
| |
| 1 | g.1232418C>G | CA337822795 | B3GALT6 | c.140C>G (p.Pro47Arg)
| |
| 1 | g.1232418C>T | CA337822800 | B3GALT6 | c.140C>T (p.Pro47Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1232419G>A | CA415760835 | B3GALT6 | c.141G>A (p.Pro47=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1232419G>C | CA415760836 | B3GALT6 | c.141G>C (p.Pro47=)
| |
| 1 | g.1232419G= | CA1148808727 | B3GALT6 | c.141G= (p.Pro47=)
| |
| 1 | g.1232419G>T | CA415760837 | B3GALT6 | c.141G>T (p.Pro47=)
| dbSNP gnomAD v4 |
| 1 | g.1232419_1232420delinsTT | CA2740090555 | B3GALT6 | c.141_142delinsTT (p.Pro48Ser)
| ClinVar |
| 1 | g.1232420C>A | CA337822816 | B3GALT6 | c.142C>A (p.Pro48Thr)
| gnomAD v4 |
| 1 | g.1232420C= | CA1148808747 | B3GALT6 | c.142C= (p.Pro48=)
| |
| 1 | g.1232420C>G | CA337822820 | B3GALT6 | c.142C>G (p.Pro48Ala)
| gnomAD v4 |
| 1 | g.1232420C>T | CA337822810 | B3GALT6 | c.142C>T (p.Pro48Ser)
| dbSNP gnomAD v4 |
| 1 | g.1232421dup | CA2642524237 | B3GALT6 | c.143dup (p.Pro49SerfsTer?)
| gnomAD v4 |
| 1 | g.1232421C>A | CA337822823 | B3GALT6 | c.143C>A (p.Pro48His)
| gnomAD v4 |
| 1 | g.1232421C= | CA1148808753 | B3GALT6 | c.143C= (p.Pro48=)
| |
| 1 | g.1232421C>G | CA337822826 | B3GALT6 | c.143C>G (p.Pro48Arg)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232421C>T | CA337822829 | B3GALT6 | c.143C>T (p.Pro48Leu)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232422del | CA2642524248 | B3GALT6 | c.144del (p.Ala51ArgfsTer25)
| gnomAD v4 |
| 1 | g.1232422T>A | CA415760848 | B3GALT6 | c.144T>A (p.Pro48=)
| gnomAD v4 |
| 1 | g.1232422T>C | CA415760845 | B3GALT6 | c.144T>C (p.Pro48=)
| gnomAD v2 gnomAD v4 |
| 1 | g.1232422T>G | CA415760847 | B3GALT6 | c.144T>G (p.Pro48=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232422T= | CA1148808766 | B3GALT6 | c.144T= (p.Pro48=)
| |
| 1 | g.1232423C>A | CA337822832 | B3GALT6 | c.145C>A (p.Pro49Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1232423C= | CA1148808776 | B3GALT6 | c.145C= (p.Pro49=)
| |
| 1 | g.1232423C>G | CA337822843 | B3GALT6 | c.145C>G (p.Pro49Ala)
| dbSNP gnomAD v4 |
| 1 | g.1232423C>T | CA337822844 | B3GALT6 | c.145C>T (p.Pro49Ser)
| dbSNP gnomAD v4 |
| 1 | g.1232428dup | CA997675924 | B3GALT6 | c.150dup (p.Ala51ArgfsTer?)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232428del | CA520658932 | B3GALT6 | c.150del (p.Ala51ArgfsTer25)
| gnomAD v2 gnomAD v4 |
| 1 | g.1232426_1232428del | CA2574217925 | B3GALT6 | c.148_150del (p.Pro50del)
| gnomAD v4 |
| 1 | g.1232424C>A | CA337822859 | B3GALT6 | c.146C>A (p.Pro49His)
| gnomAD v4 |
| 1 | g.1232424C= | CA1148808783 | B3GALT6 | c.146C= (p.Pro49=)
| |
| 1 | g.1232424C>G | CA337822855 | B3GALT6 | c.146C>G (p.Pro49Arg)
| |
| 1 | g.1232424C>T | CA337822848 | B3GALT6 | c.146C>T (p.Pro49Leu)
| dbSNP gnomAD v4 |
| 1 | g.1232425C>A | CA415760852 | B3GALT6 | c.147C>A (p.Pro49=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1232425C= | CA1148808787 | B3GALT6 | c.147C= (p.Pro49=)
| |
| 1 | g.1232425C>G | CA415760854 | B3GALT6 | c.147C>G (p.Pro49=)
| gnomAD v4 |
| 1 | g.1232425C>T | CA415760855 | B3GALT6 | c.147C>T (p.Pro49=)
| dbSNP gnomAD v4 |
| 1 | g.1232426C>A | CA337822863 | B3GALT6 | c.148C>A (p.Pro50Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1232426C= | CA1148808794 | B3GALT6 | c.148C= (p.Pro50=)
| |
| 1 | g.1232426C>G | CA337822875 | B3GALT6 | c.148C>G (p.Pro50Ala)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1232426C>T | CA337822879 | B3GALT6 | c.148C>T (p.Pro50Ser)
| gnomAD v4 |
| 1 | g.1232433_1232438dup | CA886925420 | B3GALT6 | c.155_160dup (p.Ala53_Arg54insProAla)
| dbSNP |
| 1 | g.1232433_1232438del | CA2642524274 | B3GALT6 | c.155_160del (p.Pro52_Ala53del)
| gnomAD v4 |
| 1 | g.1232427C>A | CA337822883 | B3GALT6 | c.149C>A (p.Pro50His)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232427C= | CA1148808806 | B3GALT6 | c.149C= (p.Pro50=)
| |
| 1 | g.1232427C>G | CA337822885 | B3GALT6 | c.149C>G (p.Pro50Arg)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.1232427C>T | CA337822932 | B3GALT6 | c.149C>T (p.Pro50Leu)
| |
| 1 | g.1232428_1232438del | CA2642524285 | B3GALT6 | c.150_160del (p.Ala51ArgfsTer?)
| gnomAD v4 |
| 1 | g.1232427_1232454del | CA2642524282 | B3GALT6 | c.149_176del (p.Pro50ArgfsTer17)
| gnomAD v4 |
| 1 | g.1232428C>A | CA415760860 | B3GALT6 | c.150C>A (p.Pro50=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.1232428C= | CA1148808825 | B3GALT6 | c.150C= (p.Pro50=)
| |
| 1 | g.1232428C>G | CA415760863 | B3GALT6 | c.150C>G (p.Pro50=)
| gnomAD v4 |
| 1 | g.1232428C>T | CA415760867 | B3GALT6 | c.150C>T (p.Pro50=)
| dbSNP gnomAD v4 |
| 1 | g.1232429_1232432del | CA2642524295 | B3GALT6 | c.151_154del (p.Ala51ProfsTer24)
| gnomAD v4 |
| 1 | g.1232435_1232479del | CA2642524290 | B3GALT6 | c.157_201del (p.Ala53_Pro67del)
| gnomAD v4 |
| 1 | g.1232429G>A | CA337822934 | B3GALT6 | c.151G>A (p.Ala51Thr)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.1232429G>C | CA337822951 | B3GALT6 | c.151G>C (p.Ala51Pro)
| gnomAD v4 |
| 1 | g.1232429G= | CA1148808852 | B3GALT6 | c.151G= (p.Ala51=)
| |
| 1 | g.1232429G>T | CA337822937 | B3GALT6 | c.151G>T (p.Ala51Ser)
| gnomAD v4 |
| 1 | g.1232429_1232472del | CA2642524298 | B3GALT6 | c.151_194del (p.Ala51ArgfsTer?)
| gnomAD v4 |
| 1 | g.1232430C>A | CA337822955 | B3GALT6 | c.152C>A (p.Ala51Glu)
| gnomAD v3 gnomAD v4 |
| 1 | g.1232430C>G | CA337822957 | B3GALT6 | c.152C>G (p.Ala51Gly)
| gnomAD v4 |
| 1 | g.1232430C>T | CA337822962 | B3GALT6 | c.152C>T (p.Ala51Val)
| gnomAD v4 |
| 1 | g.1232431G>A | CA415760878 | B3GALT6 | c.153G>A (p.Ala51=)
| gnomAD v4 |
| 1 | g.1232431G>C | CA415760876 | B3GALT6 | c.153G>C (p.Ala51=)
| |
| 1 | g.1232431G>T | CA415760874 | B3GALT6 | c.153G>T (p.Ala51=)
| gnomAD v4 |
| 1 | g.1232432C>A | CA337822970 | B3GALT6 | c.154C>A (p.Pro52Thr)
| gnomAD v3 gnomAD v4 |
| 1 | g.1232432C>G | CA337822982 | B3GALT6 | c.154C>G (p.Pro52Ala)
| |
| 1 | g.1232432C>T | CA337822984 | B3GALT6 | c.154C>T (p.Pro52Ser)
| gnomAD v4 |
| 1 | g.1232434del | CA2642524306 | B3GALT6 | c.156del (p.Ala53ArgfsTer23)
| gnomAD v4 |
| 1 | g.1232433C>A | CA337822986 | B3GALT6 | c.155C>A (p.Pro52His)
| gnomAD v4 |
| 1 | g.1232433C= | CA1148808855 | B3GALT6 | c.155C= (p.Pro52=)
| |
| 1 | g.1232433C>G | CA337822990 | B3GALT6 | c.155C>G (p.Pro52Arg)
| dbSNP gnomAD v4 |
| 1 | g.1232433C>T | CA337822995 | B3GALT6 | c.155C>T (p.Pro52Leu)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232433_1232439delinsCCGCGCG | CA1148808857 | B3GALT6 | c.155_161delinsCCGCGCG (p.Pro52=)
| |
| 1 | g.1232434C>A | CA415760884 | B3GALT6 | c.156C>A (p.Pro52=)
| dbSNP gnomAD v4 |
| 1 | g.1232434C= | CA1148808869 | B3GALT6 | c.156C= (p.Pro52=)
| |
| 1 | g.1232434C>G | CA415760886 | B3GALT6 | c.156C>G (p.Pro52=)
| gnomAD v4 |
| 1 | g.1232434C>T | CA415760887 | B3GALT6 | c.156C>T (p.Pro52=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.1232441_1232442dup | CA1148808864 | B3GALT6 | c.163_164dup (p.Ala56ProfsTer21)
| dbSNP |
| 1 | g.1232439_1232442dup | CA2642524319 | B3GALT6 | c.161_164dup (p.Ala56ArgfsTer?)
| gnomAD v4 |
| 1 | g.1232441_1232442del | CA520658933 | B3GALT6 | c.163_164del (p.Ala55ArgfsTer?)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1232437_1232442del | CA997675960 | B3GALT6 | c.159_164del (p.Arg54_Ala55del)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232435G>A | CA337822998 | B3GALT6 | c.157G>A (p.Ala53Thr)
| gnomAD v4 |
| 1 | g.1232435G>C | CA337823001 | B3GALT6 | c.157G>C (p.Ala53Pro)
| gnomAD v3 gnomAD v4 |
| 1 | g.1232435G>T | CA337823002 | B3GALT6 | c.157G>T (p.Ala53Ser)
| gnomAD v4 |
| 1 | g.1232436C>A | CA337823003 | B3GALT6 | c.158C>A (p.Ala53Glu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1232436C= | CA1148808875 | B3GALT6 | c.158C= (p.Ala53=)
| |
| 1 | g.1232436C>G | CA337823013 | B3GALT6 | c.158C>G (p.Ala53Gly)
| |
| 1 | g.1232436C>T | CA337823004 | B3GALT6 | c.158C>T (p.Ala53Val)
| gnomAD v3 gnomAD v4 |
| 1 | g.1232437G>A | CA16755108 | B3GALT6 | c.159G>A (p.Ala53=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232437G>C | CA415760892 | B3GALT6 | c.159G>C (p.Ala53=)
| |
| 1 | g.1232437G= | CA1148808880 | B3GALT6 | c.159G= (p.Ala53=)
| |
| 1 | g.1232437G>T | CA415760895 | B3GALT6 | c.159G>T (p.Ala53=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.1232438C>A | CA337823015 | B3GALT6 | c.160C>A (p.Arg54Ser)
| gnomAD v4 |
| 1 | g.1232438C= | CA1148808895 | B3GALT6 | c.160C= (p.Arg54=)
| |
| 1 | g.1232438C>G | CA16755111 | B3GALT6 | c.160C>G (p.Arg54Gly)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232438C>T | CA337823045 | B3GALT6 | c.160C>T (p.Arg54Cys)
| dbSNP gnomAD v4 |
| 1 | g.1232448_1232489del | CA2642524333 | B3GALT6 | c.170_211del (p.Ala57_Ala70del)
| gnomAD v4 |
| 1 | g.1232439del | CA2642524336 | B3GALT6 | c.161del (p.Arg54ProfsTer22)
| gnomAD v4 |
| 1 | g.1232439G>A | CA337823049 | B3GALT6 | c.161G>A (p.Arg54His)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232439G>C | CA337823055 | B3GALT6 | c.161G>C (p.Arg54Pro)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232439G= | CA1148808900 | B3GALT6 | c.161G= (p.Arg54=)
| |
| 1 | g.1232439G>T | CA337823059 | B3GALT6 | c.161G>T (p.Arg54Leu)
| gnomAD v4 |
| 1 | g.1232440C>A | CA415760905 | B3GALT6 | c.162C>A (p.Arg54=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.1232440C= | CA1148808914 | B3GALT6 | c.162C= (p.Arg54=)
| |
| 1 | g.1232440C>G | CA415760907 | B3GALT6 | c.162C>G (p.Arg54=)
| gnomAD v4 |
| 1 | g.1232440C>T | CA415760908 | B3GALT6 | c.162C>T (p.Arg54=)
| dbSNP gnomAD v4 |
| 1 | g.1232440dup | CA997675969 | B3GALT6 | c.162dup (p.Ala55ArgfsTer?)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232447_1232449dup | CA520658934 | B3GALT6 | c.169_171dup (p.Ala57_Phe58insAla)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1232441G>A | CA337823063 | B3GALT6 | c.163G>A (p.Ala55Thr)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232441G>C | CA16755121 | B3GALT6 | c.163G>C (p.Ala55Pro)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.1232441G= | CA1148808921 | B3GALT6 | c.163G= (p.Ala55=)
| |
| 1 | g.1232441G>T | CA337823066 | B3GALT6 | c.163G>T (p.Ala55Ser)
| gnomAD v4 |
| 1 | g.1232442C>A | CA337823070 | B3GALT6 | c.164C>A (p.Ala55Asp)
| gnomAD v4 |
| 1 | g.1232442C= | CA1148808923 | B3GALT6 | c.164C= (p.Ala55=)
| |
| 1 | g.1232442C>G | CA337823072 | B3GALT6 | c.164C>G (p.Ala55Gly)
| |
| 1 | g.1232442C>T | CA16755127 | B3GALT6 | c.164C>T (p.Ala55Val)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232442_1232443insAC | CA2642524346 | B3GALT6 | c.164_165insAC (p.Ala56ProfsTer21)
| gnomAD v4 |
| 1 | g.1232443del | CA2642524348 | B3GALT6 | c.165del (p.Ala56ProfsTer20)
| gnomAD v4 |
| 1 | g.1232443C>A | CA415760917 | B3GALT6 | c.165C>A (p.Ala55=)
| gnomAD v4 |
| 1 | g.1232443C= | CA1148808929 | B3GALT6 | c.165C= (p.Ala55=)
| |
| 1 | g.1232443C>G | CA415760919 | B3GALT6 | c.165C>G (p.Ala55=)
| |
| 1 | g.1232443C>T | CA415760918 | B3GALT6 | c.165C>T (p.Ala55=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.1232444del | CA2642524352 | B3GALT6 | c.166del (p.Ala56ProfsTer20)
| gnomAD v4 |
| 1 | g.1232444G>A | CA337823078 | B3GALT6 | c.166G>A (p.Ala56Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1232444G>C | CA337823077 | B3GALT6 | c.166G>C (p.Ala56Pro)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232444G= | CA1148808942 | B3GALT6 | c.166G= (p.Ala56=)
| |
| 1 | g.1232444G>T | CA337823076 | B3GALT6 | c.166G>T (p.Ala56Ser)
| gnomAD v4 |
| 1 | g.1232445C>A | CA337823079 | B3GALT6 | c.167C>A (p.Ala56Asp)
| gnomAD v4 |
| 1 | g.1232445C>G | CA337823080 | B3GALT6 | c.167C>G (p.Ala56Gly)
| |
| 1 | g.1232445C>T | CA337823081 | B3GALT6 | c.167C>T (p.Ala56Val)
| gnomAD v4 |
| 1 | g.1232446del | CA2642524357 | B3GALT6 | c.168del (p.Ala57ProfsTer19)
| gnomAD v4 |
| 1 | g.1232446C>A | CA415760928 | B3GALT6 | c.168C>A (p.Ala56=)
| dbSNP gnomAD v4 |
| 1 | g.1232446C= | CA1148808949 | B3GALT6 | c.168C= (p.Ala56=)
| |
| 1 | g.1232446C>G | CA415760929 | B3GALT6 | c.168C>G (p.Ala56=)
| |
| 1 | g.1232446C>T | CA415760931 | B3GALT6 | c.168C>T (p.Ala56=)
| dbSNP gnomAD v4 |
| 1 | g.1232447G>A | CA337823082 | B3GALT6 | c.169G>A (p.Ala57Thr)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232447G>C | CA337823083 | B3GALT6 | c.169G>C (p.Ala57Pro)
| gnomAD v4 |
| 1 | g.1232447G= | CA1148809030 | B3GALT6 | c.169G= (p.Ala57=)
| |
| 1 | g.1232447G>T | CA337823084 | B3GALT6 | c.169G>T (p.Ala57Ser)
| gnomAD v4 |
| 1 | g.1232448C>A | CA337823126 | B3GALT6 | c.170C>A (p.Ala57Asp)
| gnomAD v4 |
| 1 | g.1232448C>G | CA337823128 | B3GALT6 | c.170C>G (p.Ala57Gly)
| |
| 1 | g.1232448C>T | CA337823129 | B3GALT6 | c.170C>T (p.Ala57Val)
| |
| 1 | g.1232449del | CA2642524361 | B3GALT6 | c.171del (p.Phe58SerfsTer18)
| gnomAD v4 |
| 1 | g.1232449C>A | CA415760937 | B3GALT6 | c.171C>A (p.Ala57=)
| gnomAD v4 |
| 1 | g.1232449C= | CA1148809036 | B3GALT6 | c.171C= (p.Ala57=)
| |
| 1 | g.1232449C>G | CA415760939 | B3GALT6 | c.171C>G (p.Ala57=)
| |
| 1 | g.1232449C>T | CA415760941 | B3GALT6 | c.171C>T (p.Ala57=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232450T>A | CA337823131 | B3GALT6 | c.172T>A (p.Phe58Ile)
| |
| 1 | g.1232450T>C | CA337823132 | B3GALT6 | c.172T>C (p.Phe58Leu)
| gnomAD v4 |
| 1 | g.1232450T>G | CA337823133 | B3GALT6 | c.172T>G (p.Phe58Val)
| |
| 1 | g.1232451T>A | CA337823135 | B3GALT6 | c.173T>A (p.Phe58Tyr)
| gnomAD v4 |
| 1 | g.1232451T>C | CA16755128 | B3GALT6 | c.173T>C (p.Phe58Ser)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232451T>G | CA337823137 | B3GALT6 | c.173T>G (p.Phe58Cys)
| |
| 1 | g.1232451T= | CA1148809045 | B3GALT6 | c.173T= (p.Phe58=)
| |
| 1 | g.1232452C>A | CA337823139 | B3GALT6 | c.174C>A (p.Phe58Leu)
| gnomAD v4 |
| 1 | g.1232452C>G | CA337823141 | B3GALT6 | c.174C>G (p.Phe58Leu)
| |
| 1 | g.1232452C>T | CA415760947 | B3GALT6 | c.174C>T (p.Phe58=)
| gnomAD v4 COSMIC |
| 1 | g.1232452_1232459delinsCCTGGCAG | CA1148809057 | B3GALT6 | c.174_181delinsCCTGGCAG (p.Phe58=)
| |
| 1 | g.1232453C>A | CA337823142 | B3GALT6 | c.175C>A (p.Leu59Met)
| gnomAD v4 |
| 1 | g.1232453C= | CA1148809065 | B3GALT6 | c.175C= (p.Leu59=)
| |
| 1 | g.1232453C>G | CA16755129 | B3GALT6 | c.175C>G (p.Leu59Val)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232453C>T | CA415760953 | B3GALT6 | c.175C>T (p.Leu59=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1232453_1232459del | CA916088828 | B3GALT6 | c.175_181del (p.Leu59CysfsTer15)
| dbSNP gnomAD v4 |
| 1 | g.1232454T>A | CA337823144 | B3GALT6 | c.176T>A (p.Leu59Gln)
| |
| 1 | g.1232454T>C | CA337823148 | B3GALT6 | c.176T>C (p.Leu59Pro)
| gnomAD v4 |
| 1 | g.1232454T>G | CA337823149 | B3GALT6 | c.176T>G (p.Leu59Arg)
| gnomAD v4 |
| 1 | g.1232455G>A | CA16755130 | B3GALT6 | c.177G>A (p.Leu59=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232455G>C | CA415760960 | B3GALT6 | c.177G>C (p.Leu59=)
| |
| 1 | g.1232455G= | CA1148809069 | B3GALT6 | c.177G= (p.Leu59=)
| |
| 1 | g.1232455G>T | CA415760963 | B3GALT6 | c.177G>T (p.Leu59=)
| gnomAD v4 |
| 1 | g.1232456del | CA2568215665 | B3GALT6 | c.178del (p.Ala60GlnfsTer16)
| |
| 1 | g.1232456G>A | CA337823154 | B3GALT6 | c.178G>A (p.Ala60Thr)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.1232456G>C | CA337823161 | B3GALT6 | c.178G>C (p.Ala60Pro)
| |
| 1 | g.1232456G= | CA1148809076 | B3GALT6 | c.178G= (p.Ala60=)
| |
| 1 | g.1232456G>T | CA337823165 | B3GALT6 | c.178G>T (p.Ala60Ser)
| gnomAD v4 |
| 1 | g.1232457C>A | CA337823192 | B3GALT6 | c.179C>A (p.Ala60Glu)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232457C= | CA1148809084 | B3GALT6 | c.179C= (p.Ala60=)
| |
| 1 | g.1232457C>G | CA337823199 | B3GALT6 | c.179C>G (p.Ala60Gly)
| |
| 1 | g.1232457C>T | CA337823200 | B3GALT6 | c.179C>T (p.Ala60Val)
| gnomAD v4 |
| 1 | g.1232458A= | CA1148809098 | B3GALT6 | c.180A= (p.Ala60=)
| |
| 1 | g.1232458A>C | CA415760974 | B3GALT6 | c.180A>C (p.Ala60=)
| |
| 1 | g.1232458A>G | CA10606224 | B3GALT6 | c.180A>G (p.Ala60=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.1232458A>T | CA415760978 | B3GALT6 | c.180A>T (p.Ala60=)
| |
| 1 | g.1232459G>A | CA337823210 | B3GALT6 | c.181G>A (p.Val61Met)
| gnomAD v4 |
| 1 | g.1232459G>C | CA337823220 | B3GALT6 | c.181G>C (p.Val61Leu)
| dbSNP |
| 1 | g.1232459G= | CA1148809112 | B3GALT6 | c.181G= (p.Val61=)
| |
| 1 | g.1232459G>T | CA337823225 | B3GALT6 | c.181G>T (p.Val61Leu)
| gnomAD v4 |
| 1 | g.1232460T>A | CA337823248 | B3GALT6 | c.182T>A (p.Val61Glu)
| gnomAD v4 |
| 1 | g.1232460T>C | CA337823233 | B3GALT6 | c.182T>C (p.Val61Ala)
| gnomAD v4 |
| 1 | g.1232460T>G | CA337823247 | B3GALT6 | c.182T>G (p.Val61Gly)
| |
| 1 | g.1232461del | CA2574217926 | B3GALT6 | c.183del (p.Leu62TrpfsTer14)
| |
| 1 | g.1232461G>A | CA415760984 | B3GALT6 | c.183G>A (p.Val61=)
| gnomAD v4 |
| 1 | g.1232461G>C | CA415760985 | B3GALT6 | c.183G>C (p.Val61=)
| |
| 1 | g.1232461G>T | CA415760986 | B3GALT6 | c.183G>T (p.Val61=)
| gnomAD v4 |
| 1 | g.1232462C>A | CA337823249 | B3GALT6 | c.184C>A (p.Leu62Met)
| gnomAD v4 |
| 1 | g.1232462C>G | CA337823251 | B3GALT6 | c.184C>G (p.Leu62Val)
| gnomAD v4 |
| 1 | g.1232462C>T | CA415760987 | B3GALT6 | c.184C>T (p.Leu62=)
| gnomAD v4 |
| 1 | g.1232463T>A | CA337823255 | B3GALT6 | c.185T>A (p.Leu62Gln)
| |
| 1 | g.1232463T>C | CA337823258 | B3GALT6 | c.185T>C (p.Leu62Pro)
| gnomAD v4 |
| 1 | g.1232463T>G | CA337823260 | B3GALT6 | c.185T>G (p.Leu62Arg)
| |
| 1 | g.1232464G>A | CA415760993 | B3GALT6 | c.186G>A (p.Leu62=)
| gnomAD v4 |
| 1 | g.1232464G>C | CA415760995 | B3GALT6 | c.186G>C (p.Leu62=)
| |
| 1 | g.1232464G>T | CA415760997 | B3GALT6 | c.186G>T (p.Leu62=)
| gnomAD v4 |
| 1 | g.1232465G>A | CA337823264 | B3GALT6 | c.187G>A (p.Val63Met)
| gnomAD v4 |
| 1 | g.1232465G>C | CA16755133 | B3GALT6 | c.187G>C (p.Val63Leu)
| dbSNP gnomAD v4 |
| 1 | g.1232465G= | CA1148809123 | B3GALT6 | c.187G= (p.Val63=)
| |
| 1 | g.1232465G>T | CA337823267 | B3GALT6 | c.187G>T (p.Val63Leu)
| |
| 1 | g.1232466_1232467del | CA2642524389 | B3GALT6 | c.188_189del (p.Val63GlyfsTer?)
| gnomAD v4 |
| 1 | g.1232466T>A | CA337823268 | B3GALT6 | c.188T>A (p.Val63Glu)
| |
| 1 | g.1232466T>C | CA337823269 | B3GALT6 | c.188T>C (p.Val63Ala)
| |
| 1 | g.1232466T>G | CA337823270 | B3GALT6 | c.188T>G (p.Val63Gly)
| |
| 1 | g.1232467G>A | CA415761015 | B3GALT6 | c.189G>A (p.Val63=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1232467G>C | CA415761011 | B3GALT6 | c.189G>C (p.Val63=)
| |
| 1 | g.1232467G= | CA1148809132 | B3GALT6 | c.189G= (p.Val63=)
| |
| 1 | g.1232467G>T | CA415761007 | B3GALT6 | c.189G>T (p.Val63=)
| gnomAD v4 |
| 1 | g.1232468G>A | CA337823307 | B3GALT6 | c.190G>A (p.Ala64Thr)
| gnomAD v4 |
| 1 | g.1232468G>C | CA337823306 | B3GALT6 | c.190G>C (p.Ala64Pro)
| gnomAD v4 |
| 1 | g.1232468G= | CA1148809140 | B3GALT6 | c.190G= (p.Ala64=)
| |
| 1 | g.1232468G>T | CA337823305 | B3GALT6 | c.190G>T (p.Ala64Ser)
| dbSNP gnomAD v4 |
| 1 | g.1232469C>A | CA337823308 | B3GALT6 | c.191C>A (p.Ala64Asp)
| gnomAD v4 |
| 1 | g.1232469C= | CA1148809148 | B3GALT6 | c.191C= (p.Ala64=)
| |
| 1 | g.1232469C>G | CA337823309 | B3GALT6 | c.191C>G (p.Ala64Gly)
| gnomAD v4 |
| 1 | g.1232469C>T | CA337823311 | B3GALT6 | c.191C>T (p.Ala64Val)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232470del | CA2642524400 | B3GALT6 | c.192del (p.Ser65AlafsTer11)
| gnomAD v4 |
| 1 | g.1232470C>A | CA415761023 | B3GALT6 | c.192C>A (p.Ala64=)
| gnomAD v4 |
| 1 | g.1232470C= | CA1148809182 | B3GALT6 | c.192C= (p.Ala64=)
| |
| 1 | g.1232470C>G | CA415761024 | B3GALT6 | c.192C>G (p.Ala64=)
| |
| 1 | g.1232470C>T | CA415761026 | B3GALT6 | c.192C>T (p.Ala64=)
| dbSNP gnomAD v4 |
| 1 | g.1232471A= | CA1144228640 | B3GALT6 | c.193A= (p.Ser65=)
| |
| 1 | g.1232471A>C | CA337823315 | B3GALT6 | c.193A>C (p.Ser65Arg)
| |
| 1 | g.1232471A>G | CA144526 | B3GALT6 | c.193A>G (p.Ser65Gly)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.1232471A>T | CA337823350 | B3GALT6 | c.193A>T (p.Ser65Cys)
| ClinVar |
| 1 | g.1232471_1232528delinsAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGC | CA1148809196 | B3GALT6 | c.193_250delinsAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGC (p.Ser65=)
| |
