1 | g.1232684_1232693delinsGTGCTGGCCA | CA1148810553 | B3GALT6 | c.406_415delinsGTGCTGGCCA (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.1232693A>C | CA337825280 | B3GALT6 | c.415A>C (p.Met139Leu)
| |
1 | g.1232693A>G | CA337825288 | B3GALT6 | c.415A>G (p.Met139Val)
| ClinVar dbSNP gnomAD v4 |
1 | g.1232693A>T | CA337825283 | B3GALT6 | c.415A>T (p.Met139Leu)
| gnomAD v4 |
1 | g.1232694T>A | CA337825291 | B3GALT6 | c.416T>A (p.Met139Lys)
| |
1 | g.1232694T>C | CA337825297 | B3GALT6 | c.416T>C (p.Met139Thr)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.1232694T>G | CA337825299 | B3GALT6 | c.416T>G (p.Met139Arg)
| |
1 | g.1232694T= | CA1148810626 | B3GALT6 | c.416T= (p.Met139=)
| |
1 | g.1232695G>A | CA337825301 | B3GALT6 | c.417G>A (p.Met139Ile)
| gnomAD v4 |
1 | g.1232695G>C | CA337825302 | B3GALT6 | c.417G>C (p.Met139Ile)
| gnomAD v4 |
1 | g.1232695G>T | CA337825303 | B3GALT6 | c.417G>T (p.Met139Ile)
| gnomAD v4 |
1 | g.1232696C>A | CA513336 | B3GALT6 | c.418C>A (p.Leu140Met)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.1232696C= | CA1142087771 | B3GALT6 | c.418C= (p.Leu140=)
| |
1 | g.1232696C>G | CA16755282 | B3GALT6 | c.418C>G (p.Leu140Val)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.1232696C>T | CA415761125 | B3GALT6 | c.418C>T (p.Leu140=)
| gnomAD v4 |
1 | g.1232697T>A | CA337825310 | B3GALT6 | c.419T>A (p.Leu140Gln)
| dbSNP gnomAD v4 |
1 | g.1232697T>C | CA337825317 | B3GALT6 | c.419T>C (p.Leu140Pro)
| dbSNP gnomAD v4 |
1 | g.1232697T>G | CA337825308 | B3GALT6 | c.419T>G (p.Leu140Arg)
| |
1 | g.1232697T= | CA1148810634 | B3GALT6 | c.419T= (p.Leu140=)
| |
1 | g.1232697_1232698delinsTG | CA1148810649 | B3GALT6 | c.419_420delinsTG (p.Leu140=)
| |
1 | g.1232698G>A | CA415761128 | B3GALT6 | c.420G>A (p.Leu140=)
| gnomAD v4 |
1 | g.1232698G>C | CA415761130 | B3GALT6 | c.420G>C (p.Leu140=)
| ClinVar gnomAD v4 |
1 | g.1232698G>T | CA415761132 | B3GALT6 | c.420G>T (p.Leu140=)
| gnomAD v4 |
1 | g.1232699del | CA886926364 | B3GALT6 | c.421del (p.Ala141ProfsTer?)
| ClinVar dbSNP gnomAD v4 |
1 | g.1232699G>A | CA337825319 | B3GALT6 | c.421G>A (p.Ala141Thr)
| gnomAD v4 |
1 | g.1232699G>C | CA337825331 | B3GALT6 | c.421G>C (p.Ala141Pro)
| gnomAD v4 |
1 | g.1232699G>T | CA337825332 | B3GALT6 | c.421G>T (p.Ala141Ser)
| gnomAD v4 |
1 | g.1232700C>A | CA337825333 | B3GALT6 | c.422C>A (p.Ala141Asp)
| dbSNP gnomAD v4 |
1 | g.1232700C= | CA1148810659 | B3GALT6 | c.422C= (p.Ala141=)
| |
1 | g.1232700C>G | CA337825334 | B3GALT6 | c.422C>G (p.Ala141Gly)
| gnomAD v4 |
1 | g.1232700C>T | CA513337 | B3GALT6 | c.422C>T (p.Ala141Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232701C>A | CA415761140 | B3GALT6 | c.423C>A (p.Ala141=)
| gnomAD v4 |
1 | g.1232701C= | CA1148810673 | B3GALT6 | c.423C= (p.Ala141=)
| |
1 | g.1232701C>G | CA513338 | B3GALT6 | c.423C>G (p.Ala141=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.1232701C>T | CA513339 | B3GALT6 | c.423C>T (p.Ala141=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.1232702T>A | CA337825344 | B3GALT6 | c.424T>A (p.Trp142Arg)
| gnomAD v4 |
1 | g.1232702T>C | CA337825346 | B3GALT6 | c.424T>C (p.Trp142Arg)
| gnomAD v4 |
1 | g.1232702T>G | CA337825347 | B3GALT6 | c.424T>G (p.Trp142Gly)
| |
1 | g.1232703G>A | CA337825351 | B3GALT6 | c.425G>A (p.Trp142Ter)
| dbSNP gnomAD v4 |
1 | g.1232703G>C | CA337825352 | B3GALT6 | c.425G>C (p.Trp142Ser)
| gnomAD v4 |
1 | g.1232703G= | CA1148810692 | B3GALT6 | c.425G= (p.Trp142=)
| |
1 | g.1232703G>T | CA337825349 | B3GALT6 | c.425G>T (p.Trp142Leu)
| gnomAD v4 |
1 | g.1232703_1232704del | CA2742143412 | B3GALT6 | c.425_426del (p.Trp142SerfsTer?)
| |
1 | g.1232704del | CA2642525211 | B3GALT6 | c.426del (p.Trp142CysfsTer?)
| gnomAD v4 |
1 | g.1232712_1232771del | CA2642525215 | B3GALT6 | c.434_493del (p.Glu145_Asp164del)
| gnomAD v4 |
1 | g.1232704G>A | CA16755286 | B3GALT6 | c.426G>A (p.Trp142Ter)
| dbSNP gnomAD v4 |
1 | g.1232704G>C | CA337825372 | B3GALT6 | c.426G>C (p.Trp142Cys)
| |
1 | g.1232704G= | CA1148810716 | B3GALT6 | c.426G= (p.Trp142=)
| |
1 | g.1232704G>T | CA337825373 | B3GALT6 | c.426G>T (p.Trp142Cys)
| gnomAD v4 |
1 | g.1232705C>A | CA337825376 | B3GALT6 | c.427C>A (p.Leu143Met)
| gnomAD v4 |
1 | g.1232705C>G | CA337825377 | B3GALT6 | c.427C>G (p.Leu143Val)
| gnomAD v4 |
1 | g.1232705C>T | CA415761148 | B3GALT6 | c.427C>T (p.Leu143=)
| gnomAD v4 |
1 | g.1232706T>A | CA337825390 | B3GALT6 | c.428T>A (p.Leu143Gln)
| gnomAD v4 |
1 | g.1232706T>C | CA337825380 | B3GALT6 | c.428T>C (p.Leu143Pro)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.1232706T>G | CA337825385 | B3GALT6 | c.428T>G (p.Leu143Arg)
| |
1 | g.1232706T= | CA1148810740 | B3GALT6 | c.428T= (p.Leu143=)
| |
1 | g.1232707G>A | CA415761151 | B3GALT6 | c.429G>A (p.Leu143=)
| dbSNP gnomAD v4 |
1 | g.1232707G>C | CA415761150 | B3GALT6 | c.429G>C (p.Leu143=)
| |
1 | g.1232707G= | CA1148810748 | B3GALT6 | c.429G= (p.Leu143=)
| |
1 | g.1232707G>T | CA415761149 | B3GALT6 | c.429G>T (p.Leu143=)
| gnomAD v4 |
1 | g.1232708del | CA2642525276 | B3GALT6 | c.430del (p.Asp144ThrfsTer?)
| gnomAD v4 |
1 | g.1232708G>A | CA337825391 | B3GALT6 | c.430G>A (p.Asp144Asn)
| gnomAD v4 |
1 | g.1232708G>C | CA337825392 | B3GALT6 | c.430G>C (p.Asp144His)
| gnomAD v4 |
1 | g.1232708G>T | CA337825393 | B3GALT6 | c.430G>T (p.Asp144Tyr)
| gnomAD v4 |
1 | g.1232709A>C | CA337825394 | B3GALT6 | c.431A>C (p.Asp144Ala)
| gnomAD v4 |
1 | g.1232709A>G | CA337825395 | B3GALT6 | c.431A>G (p.Asp144Gly)
| gnomAD v4 |
1 | g.1232709A>T | CA337825417 | B3GALT6 | c.431A>T (p.Asp144Val)
| gnomAD v4 |
1 | g.1232710C>A | CA337825439 | B3GALT6 | c.432C>A (p.Asp144Glu)
| gnomAD v4 |
1 | g.1232710C= | CA1148810767 | B3GALT6 | c.432C= (p.Asp144=)
| |
1 | g.1232710C>G | CA337825432 | B3GALT6 | c.432C>G (p.Asp144Glu)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.1232710C>T | CA415761156 | B3GALT6 | c.432C>T (p.Asp144=)
| gnomAD v4 |
1 | g.1232715_1232786del | CA2642525327 | B3GALT6 | c.437_508del (p.His146_Glu169del)
| gnomAD v4 |
1 | g.1232711G>A | CA513340 | B3GALT6 | c.433G>A (p.Glu145Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.1232711G>C | CA337825446 | B3GALT6 | c.433G>C (p.Glu145Gln)
| gnomAD v4 |
1 | g.1232711G= | CA1148810780 | B3GALT6 | c.433G= (p.Glu145=)
| |
1 | g.1232711G>T | CA337825444 | B3GALT6 | c.433G>T (p.Glu145Ter)
| gnomAD v4 |
1 | g.1232712A>C | CA337825449 | B3GALT6 | c.434A>C (p.Glu145Ala)
| |
1 | g.1232712A>G | CA337825450 | B3GALT6 | c.434A>G (p.Glu145Gly)
| gnomAD v4 |
1 | g.1232712A>T | CA337825451 | B3GALT6 | c.434A>T (p.Glu145Val)
| |
1 | g.1232713G>A | CA415761159 | B3GALT6 | c.435G>A (p.Glu145=)
| dbSNP gnomAD v4 |
1 | g.1232713G>C | CA337825452 | B3GALT6 | c.435G>C (p.Glu145Asp)
| |
1 | g.1232713G>T | CA337825453 | B3GALT6 | c.435G>T (p.Glu145Asp)
| gnomAD v4 |
1 | g.1232714C>A | CA337825456 | B3GALT6 | c.436C>A (p.His146Asn)
| gnomAD v4 |
1 | g.1232714C= | CA1146628731 | B3GALT6 | c.436C= (p.His146=)
| |
1 | g.1232714C>G | CA337825459 | B3GALT6 | c.436C>G (p.His146Asp)
| gnomAD v4 |
1 | g.1232714C>T | CA513341 | B3GALT6 | c.436C>T (p.His146Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232715A= | CA1148810791 | B3GALT6 | c.437A= (p.His146=)
| |
1 | g.1232715A>C | CA337825470 | B3GALT6 | c.437A>C (p.His146Pro)
| |
1 | g.1232715A>G | CA513342 | B3GALT6 | c.437A>G (p.His146Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232715A>T | CA337825479 | B3GALT6 | c.437A>T (p.His146Leu)
| gnomAD v4 |
1 | g.1232715_1232717del | CA2642525358 | B3GALT6 | c.437_439del (p.His146_Val147delinsLeu)
| gnomAD v4 |
1 | g.1232715_1232730delinsACGTGGCCTTCGAGTT | CA1148810792 | B3GALT6 | c.437_452delinsACGTGGCCTTCGAGTT (p.His146=)
| |
1 | g.1232716C>A | CA337825497 | B3GALT6 | c.438C>A (p.His146Gln)
| gnomAD v4 |
1 | g.1232716C>G | CA337825489 | B3GALT6 | c.438C>G (p.His146Gln)
| |
1 | g.1232716C>T | CA415761166 | B3GALT6 | c.438C>T (p.His146=)
| ClinVar gnomAD v4 |
1 | g.1232720_1232734del | CA886926423 | B3GALT6 | c.442_456del (p.Ala148_Val152del)
| dbSNP |
1 | g.1232717G>A | CA16755295 | B3GALT6 | c.439G>A (p.Val147Met)
| dbSNP gnomAD v4 |
1 | g.1232717G>C | CA337825506 | B3GALT6 | c.439G>C (p.Val147Leu)
| |
1 | g.1232717G= | CA1148810807 | B3GALT6 | c.439G= (p.Val147=)
| |
1 | g.1232717G>T | CA337825509 | B3GALT6 | c.439G>T (p.Val147Leu)
| gnomAD v4 |
1 | g.1232718T>A | CA337825529 | B3GALT6 | c.440T>A (p.Val147Glu)
| |
1 | g.1232718T>C | CA337825544 | B3GALT6 | c.440T>C (p.Val147Ala)
| gnomAD v4 |
1 | g.1232718T>G | CA337825548 | B3GALT6 | c.440T>G (p.Val147Gly)
| |
1 | g.1232719G>A | CA415761171 | B3GALT6 | c.441G>A (p.Val147=)
| gnomAD v4 |
1 | g.1232719G>C | CA415761172 | B3GALT6 | c.441G>C (p.Val147=)
| |
1 | g.1232719G>T | CA415761174 | B3GALT6 | c.441G>T (p.Val147=)
| gnomAD v4 |
1 | g.1232720G>A | CA337825549 | B3GALT6 | c.442G>A (p.Ala148Thr)
| gnomAD v4 |
1 | g.1232720G>C | CA337825550 | B3GALT6 | c.442G>C (p.Ala148Pro)
| gnomAD v4 |
1 | g.1232720G>T | CA337825553 | B3GALT6 | c.442G>T (p.Ala148Ser)
| gnomAD v4 |
1 | g.1232721C>A | CA337825569 | B3GALT6 | c.443C>A (p.Ala148Asp)
| gnomAD v4 |
1 | g.1232721C= | CA1148810824 | B3GALT6 | c.443C= (p.Ala148=)
| |
1 | g.1232721C>G | CA337825571 | B3GALT6 | c.443C>G (p.Ala148Gly)
| gnomAD v4 |
1 | g.1232721C>T | CA513343 | B3GALT6 | c.443C>T (p.Ala148Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232722C>A | CA415761180 | B3GALT6 | c.444C>A (p.Ala148=)
| gnomAD v4 |
1 | g.1232722C= | CA1148810830 | B3GALT6 | c.444C= (p.Ala148=)
| |
1 | g.1232722C>G | CA415761179 | B3GALT6 | c.444C>G (p.Ala148=)
| |
1 | g.1232722C>T | CA415761178 | B3GALT6 | c.444C>T (p.Ala148=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.1232722_1232723delinsCT | CA1148810833 | B3GALT6 | c.444_445delinsCT (p.Ala148=)
| |
1 | g.1232723T>A | CA337825591 | B3GALT6 | c.445T>A (p.Phe149Ile)
| gnomAD v4 |
1 | g.1232723T>C | CA337825595 | B3GALT6 | c.445T>C (p.Phe149Leu)
| gnomAD v4 |
1 | g.1232723T>G | CA337825577 | B3GALT6 | c.445T>G (p.Phe149Val)
| gnomAD v4 |
1 | g.1232724del | CA658795354 | B3GALT6 | c.446del (p.Phe149SerfsTer?)
| ClinVar dbSNP gnomAD v4 |
1 | g.1232724T>A | CA337825604 | B3GALT6 | c.446T>A (p.Phe149Tyr)
| gnomAD v4 |
1 | g.1232724T>C | CA337825606 | B3GALT6 | c.446T>C (p.Phe149Ser)
| gnomAD v4 |
1 | g.1232724T>G | CA337825611 | B3GALT6 | c.446T>G (p.Phe149Cys)
| |
1 | g.1232725C>A | CA337825613 | B3GALT6 | c.447C>A (p.Phe149Leu)
| gnomAD v4 |
1 | g.1232725C= | CA1148810845 | B3GALT6 | c.447C= (p.Phe149=)
| |
1 | g.1232725C>G | CA337825617 | B3GALT6 | c.447C>G (p.Phe149Leu)
| ClinVar dbSNP gnomAD v4 |
1 | g.1232725C>T | CA415761183 | B3GALT6 | c.447C>T (p.Phe149=)
| gnomAD v4 |
1 | g.1232726G>A | CA337825622 | B3GALT6 | c.448G>A (p.Glu150Lys)
| dbSNP gnomAD v4 |
1 | g.1232726G>C | CA337825625 | B3GALT6 | c.448G>C (p.Glu150Gln)
| ClinVar dbSNP gnomAD v4 |
1 | g.1232726G= | CA1148810854 | B3GALT6 | c.448G= (p.Glu150=)
| |
1 | g.1232726G>T | CA337825627 | B3GALT6 | c.448G>T (p.Glu150Ter)
| gnomAD v4 |
1 | g.1232727A>C | CA337825654 | B3GALT6 | c.449A>C (p.Glu150Ala)
| gnomAD v4 |
1 | g.1232727A>G | CA337825655 | B3GALT6 | c.449A>G (p.Glu150Gly)
| gnomAD v4 |
1 | g.1232727A>T | CA337825656 | B3GALT6 | c.449A>T (p.Glu150Val)
| |
1 | g.1232728G>A | CA415761187 | B3GALT6 | c.450G>A (p.Glu150=)
| gnomAD v4 |
1 | g.1232728G>C | CA337825657 | B3GALT6 | c.450G>C (p.Glu150Asp)
| |
1 | g.1232728G= | CA1148810863 | B3GALT6 | c.450G= (p.Glu150=)
| |
1 | g.1232728G>T | CA337825658 | B3GALT6 | c.450G>T (p.Glu150Asp)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.1232729T>A | CA337825662 | B3GALT6 | c.451T>A (p.Phe151Ile)
| |
1 | g.1232729T>C | CA337825661 | B3GALT6 | c.451T>C (p.Phe151Leu)
| gnomAD v4 |
1 | g.1232729T>G | CA337825660 | B3GALT6 | c.451T>G (p.Phe151Val)
| |
1 | g.1232730T>A | CA337825663 | B3GALT6 | c.452T>A (p.Phe151Tyr)
| gnomAD v4 |
1 | g.1232730T>C | CA337825664 | B3GALT6 | c.452T>C (p.Phe151Ser)
| gnomAD v4 |
1 | g.1232730T>G | CA337825665 | B3GALT6 | c.452T>G (p.Phe151Cys)
| |
1 | g.1232731C>A | CA337825667 | B3GALT6 | c.453C>A (p.Phe151Leu)
| gnomAD v4 |
1 | g.1232731C>G | CA337825668 | B3GALT6 | c.453C>G (p.Phe151Leu)
| |
1 | g.1232731C>T | CA415761189 | B3GALT6 | c.453C>T (p.Phe151=)
| gnomAD v4 |
1 | g.1232732G>A | CA337825669 | B3GALT6 | c.454G>A (p.Val152Met)
| gnomAD v4 |
1 | g.1232732G>C | CA337825671 | B3GALT6 | c.454G>C (p.Val152Leu)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.1232732G= | CA1148810873 | B3GALT6 | c.454G= (p.Val152=)
| |
1 | g.1232732G>T | CA337825672 | B3GALT6 | c.454G>T (p.Val152Leu)
| gnomAD v4 |
1 | g.1232733T>A | CA337825675 | B3GALT6 | c.455T>A (p.Val152Glu)
| gnomAD v4 |
1 | g.1232733T>C | CA16755320 | B3GALT6 | c.455T>C (p.Val152Ala)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.1232733T>G | CA337825676 | B3GALT6 | c.455T>G (p.Val152Gly)
| |
1 | g.1232733T= | CA1148810879 | B3GALT6 | c.455T= (p.Val152=)
| |
1 | g.1232734G>A | CA415761192 | B3GALT6 | c.456G>A (p.Val152=)
| gnomAD v4 |
1 | g.1232734G>C | CA415761193 | B3GALT6 | c.456G>C (p.Val152=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.1232734G= | CA1148810890 | B3GALT6 | c.456G= (p.Val152=)
| |
1 | g.1232734G>T | CA415761195 | B3GALT6 | c.456G>T (p.Val152=)
| gnomAD v4 |
1 | g.1232735C>A | CA513344 | B3GALT6 | c.457C>A (p.Leu153Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232735C= | CA1141890189 | B3GALT6 | c.457C= (p.Leu153=)
| |
1 | g.1232735C>G | CA337825689 | B3GALT6 | c.457C>G (p.Leu153Val)
| gnomAD v4 |
1 | g.1232735C>T | CA337825692 | B3GALT6 | c.457C>T (p.Leu153Phe)
| ClinVar gnomAD v4 |
1 | g.1232736T>A | CA337825702 | B3GALT6 | c.458T>A (p.Leu153His)
| gnomAD v4 |
1 | g.1232736T>C | CA337825703 | B3GALT6 | c.458T>C (p.Leu153Pro)
| ClinVar dbSNP gnomAD v4 |
1 | g.1232736T>G | CA337825697 | B3GALT6 | c.458T>G (p.Leu153Arg)
| |
1 | g.1232736T= | CA1148810904 | B3GALT6 | c.458T= (p.Leu153=)
| |
1 | g.1232737del | CA2642525445 | B3GALT6 | c.459del (p.Lys154ArgfsTer?)
| gnomAD v4 |
1 | g.1232737C>A | CA415761198 | B3GALT6 | c.459C>A (p.Leu153=)
| gnomAD v4 |
1 | g.1232737C= | CA1148810911 | B3GALT6 | c.459C= (p.Leu153=)
| |
1 | g.1232737C>G | CA513345 | B3GALT6 | c.459C>G (p.Leu153=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232737C>T | CA415761200 | B3GALT6 | c.459C>T (p.Leu153=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.1232738A>C | CA337825705 | B3GALT6 | c.460A>C (p.Lys154Gln)
| |
1 | g.1232738A>G | CA337825708 | B3GALT6 | c.460A>G (p.Lys154Glu)
| gnomAD v4 |
1 | g.1232738A>T | CA337825707 | B3GALT6 | c.460A>T (p.Lys154Ter)
| |
1 | g.1232739del | CA2642525451 | B3GALT6 | c.461del (p.Lys154ArgfsTer?)
| gnomAD v4 |
1 | g.1232739A= | CA1148810936 | B3GALT6 | c.461A= (p.Lys154=)
| |
1 | g.1232739A>C | CA337825711 | B3GALT6 | c.461A>C (p.Lys154Thr)
| gnomAD v4 |
1 | g.1232739A>G | CA337825713 | B3GALT6 | c.461A>G (p.Lys154Arg)
| dbSNP gnomAD v4 |
1 | g.1232739A>T | CA337825715 | B3GALT6 | c.461A>T (p.Lys154Met)
| gnomAD v4 |
1 | g.1232740G>A | CA415761203 | B3GALT6 | c.462G>A (p.Lys154=)
| ClinVar dbSNP gnomAD v4 COSMIC |
1 | g.1232740G>C | CA337825721 | B3GALT6 | c.462G>C (p.Lys154Asn)
| |
1 | g.1232740G= | CA1148810995 | B3GALT6 | c.462G= (p.Lys154=)
| |
1 | g.1232740G>T | CA337825723 | B3GALT6 | c.462G>T (p.Lys154Asn)
| gnomAD v4 |
1 | g.1232741G>A | CA337825744 | B3GALT6 | c.463G>A (p.Ala155Thr)
| gnomAD v4 |
1 | g.1232741G>C | CA337825740 | B3GALT6 | c.463G>C (p.Ala155Pro)
| gnomAD v4 |
1 | g.1232741G>T | CA337825731 | B3GALT6 | c.463G>T (p.Ala155Ser)
| gnomAD v4 |
1 | g.1232742del | CA2642525462 | B3GALT6 | c.464del (p.Ala155GlyfsTer?)
| gnomAD v4 |
1 | g.1232742C>A | CA337825745 | B3GALT6 | c.464C>A (p.Ala155Glu)
| ClinVar dbSNP gnomAD v4 |
1 | g.1232742C>G | CA337825746 | B3GALT6 | c.464C>G (p.Ala155Gly)
| gnomAD v4 |
1 | g.1232742C>T | CA337825747 | B3GALT6 | c.464C>T (p.Ala155Val)
| gnomAD v4 |
1 | g.1232743G>A | CA415761207 | B3GALT6 | c.465G>A (p.Ala155=)
| gnomAD v4 |
1 | g.1232743G>C | CA415761205 | B3GALT6 | c.465G>C (p.Ala155=)
| gnomAD v4 |
1 | g.1232743G>T | CA415761206 | B3GALT6 | c.465G>T (p.Ala155=)
| gnomAD v4 |
1 | g.1232744del | CA2742143413 | B3GALT6 | c.466del (p.Asp156ThrfsTer?)
| |
1 | g.1232744G>A | CA144524 | B3GALT6 | c.466G>A (p.Asp156Asn)
| ClinVar dbSNP gnomAD v4 |
1 | g.1232744G>C | CA337825766 | B3GALT6 | c.466G>C (p.Asp156His)
| gnomAD v4 |
1 | g.1232744G= | CA1144228642 | B3GALT6 | c.466G= (p.Asp156=)
| |
1 | g.1232744G>T | CA337825767 | B3GALT6 | c.466G>T (p.Asp156Tyr)
| gnomAD v4 |
1 | g.1232750_1232752del | CA2642525475 | B3GALT6 | c.472_474del (p.Asp158del)
| gnomAD v4 |
1 | g.1232745A= | CA1148811011 | B3GALT6 | c.467A= (p.Asp156=)
| |
1 | g.1232745A>C | CA513346 | B3GALT6 | c.467A>C (p.Asp156Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.1232745A>G | CA337825770 | B3GALT6 | c.467A>G (p.Asp156Gly)
| gnomAD v4 |
1 | g.1232745A>T | CA513347 | B3GALT6 | c.467A>T (p.Asp156Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.1232746C>A | CA337825778 | B3GALT6 | c.468C>A (p.Asp156Glu)
| gnomAD v4 |
1 | g.1232746C>G | CA337825780 | B3GALT6 | c.468C>G (p.Asp156Glu)
| gnomAD v4 |
1 | g.1232746C>T | CA415761214 | B3GALT6 | c.468C>T (p.Asp156=)
| gnomAD v4 |
1 | g.1232747G>A | CA337825785 | B3GALT6 | c.469G>A (p.Asp157Asn)
| dbSNP gnomAD v4 |
1 | g.1232747G>C | CA337825811 | B3GALT6 | c.469G>C (p.Asp157His)
| |
1 | g.1232747G= | CA1148811017 | B3GALT6 | c.469G= (p.Asp157=)
| |
1 | g.1232747G>T | CA337825812 | B3GALT6 | c.469G>T (p.Asp157Tyr)
| gnomAD v4 |
1 | g.1232748A>C | CA337825816 | B3GALT6 | c.470A>C (p.Asp157Ala)
| |
1 | g.1232748A>G | CA337825818 | B3GALT6 | c.470A>G (p.Asp157Gly)
| gnomAD v4 |
1 | g.1232748A>T | CA337825823 | B3GALT6 | c.470A>T (p.Asp157Val)
| gnomAD v4 |
1 | g.1232749C>A | CA337825830 | B3GALT6 | c.471C>A (p.Asp157Glu)
| gnomAD v4 |
1 | g.1232749C>G | CA337825834 | B3GALT6 | c.471C>G (p.Asp157Glu)
| gnomAD v4 |
1 | g.1232749C>T | CA415761220 | B3GALT6 | c.471C>T (p.Asp157=)
| gnomAD v4 |
1 | g.1232750G>A | CA337825841 | B3GALT6 | c.472G>A (p.Asp158Asn)
| gnomAD v4 |
1 | g.1232750G>C | CA337825839 | B3GALT6 | c.472G>C (p.Asp158His)
| gnomAD v4 |
1 | g.1232750G= | CA1148811056 | B3GALT6 | c.472G= (p.Asp158=)
| |
1 | g.1232750G>T | CA337825838 | B3GALT6 | c.472G>T (p.Asp158Tyr)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232750_1232751delinsTC | CA2580060428 | B3GALT6 | c.472_473delinsTC (p.Asp158Ser)
| ClinVar |
1 | g.1232751A= | CA1148811063 | B3GALT6 | c.473A= (p.Asp158=)
| |
1 | g.1232751A>C | CA337825846 | B3GALT6 | c.473A>C (p.Asp158Ala)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.1232751A>G | CA337825847 | B3GALT6 | c.473A>G (p.Asp158Gly)
| gnomAD v4 |
1 | g.1232751A>T | CA337825852 | B3GALT6 | c.473A>T (p.Asp158Val)
| gnomAD v4 |
1 | g.1232752C>A | CA513349 | B3GALT6 | c.474C>A (p.Asp158Glu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.1232752C= | CA1148427702 | B3GALT6 | c.474C= (p.Asp158=)
| |
1 | g.1232752C>G | CA513348 | B3GALT6 | c.474C>G (p.Asp158Glu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232752C>T | CA415761227 | B3GALT6 | c.474C>T (p.Asp158=)
| gnomAD v4 |
1 | g.1232753T>A | CA337825864 | B3GALT6 | c.475T>A (p.Ser159Thr)
| gnomAD v4 |
1 | g.1232753T>C | CA513350 | B3GALT6 | c.475T>C (p.Ser159Pro)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232753T>G | CA337825869 | B3GALT6 | c.475T>G (p.Ser159Ala)
| gnomAD v4 |
1 | g.1232753T= | CA1148811074 | B3GALT6 | c.475T= (p.Ser159=)
| |
1 | g.1232754C>A | CA337825875 | B3GALT6 | c.476C>A (p.Ser159Tyr)
| ClinVar dbSNP gnomAD v4 |
1 | g.1232754C= | CA1148811091 | B3GALT6 | c.476C= (p.Ser159=)
| |
1 | g.1232754C>G | CA337825876 | B3GALT6 | c.476C>G (p.Ser159Cys)
| |
1 | g.1232754C>T | CA337825877 | B3GALT6 | c.476C>T (p.Ser159Phe)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232755del | CA2586963990 | B3GALT6 | c.477del (p.Phe160SerfsTer?)
| gnomAD v4 |
1 | g.1232754_1232757delinsCCTT | CA1148811088 | B3GALT6 | c.476_479delinsCCTT (p.Ser159=)
| |
1 | g.1232755C>A | CA415761229 | B3GALT6 | c.477C>A (p.Ser159=)
| dbSNP gnomAD v4 |
1 | g.1232755C= | CA1143728333 | B3GALT6 | c.477C= (p.Ser159=)
| |
1 | g.1232755C>G | CA415761231 | B3GALT6 | c.477C>G (p.Ser159=)
| gnomAD v4 |
1 | g.1232755C>T | CA513352 | B3GALT6 | c.477C>T (p.Ser159=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232756_1232758del | CA513351 | B3GALT6 | c.478_480del (p.Phe160del)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.1232756T>A | CA337825912 | B3GALT6 | c.478T>A (p.Phe160Ile)
| gnomAD v4 |
1 | g.1232756T>C | CA337825906 | B3GALT6 | c.478T>C (p.Phe160Leu)
| gnomAD v4 |
1 | g.1232756T>G | CA337825909 | B3GALT6 | c.478T>G (p.Phe160Val)
| |
1 | g.1232757del | CA2642525522 | B3GALT6 | c.479del (p.Phe160SerfsTer?)
| gnomAD v4 |
1 | g.1232757T>A | CA337825914 | B3GALT6 | c.479T>A (p.Phe160Tyr)
| |
1 | g.1232757T>C | CA337825915 | B3GALT6 | c.479T>C (p.Phe160Ser)
| gnomAD v4 |
1 | g.1232757T>G | CA337825916 | B3GALT6 | c.479T>G (p.Phe160Cys)
| |
1 | g.1232758C>A | CA513353 | B3GALT6 | c.480C>A (p.Phe160Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.1232758C= | CA1148811114 | B3GALT6 | c.480C= (p.Phe160=)
| |
1 | g.1232758C>G | CA337825917 | B3GALT6 | c.480C>G (p.Phe160Leu)
| gnomAD v4 |
1 | g.1232758C>T | CA513354 | B3GALT6 | c.480C>T (p.Phe160=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232763_1232774del | CA2642525526 | B3GALT6 | c.485_496del (p.Arg162_Ala165del)
| gnomAD v4 |
1 | g.1232759G>A | CA337825918 | B3GALT6 | c.481G>A (p.Ala161Thr)
| gnomAD v4 |
1 | g.1232759G>C | CA513355 | B3GALT6 | c.481G>C (p.Ala161Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.1232759G= | CA1148811123 | B3GALT6 | c.481G= (p.Ala161=)
| |
1 | g.1232759G>T | CA337825925 | B3GALT6 | c.481G>T (p.Ala161Ser)
| gnomAD v4 |
1 | g.1232760C>A | CA337825927 | B3GALT6 | c.482C>A (p.Ala161Glu)
| gnomAD v4 |
1 | g.1232760C= | CA1148811134 | B3GALT6 | c.482C= (p.Ala161=)
| |
1 | g.1232760C>G | CA337825953 | B3GALT6 | c.482C>G (p.Ala161Gly)
| |
1 | g.1232760C>T | CA337825955 | B3GALT6 | c.482C>T (p.Ala161Val)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.1232761G>A | CA513356 | B3GALT6 | c.483G>A (p.Ala161=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232761G>C | CA415761235 | B3GALT6 | c.483G>C (p.Ala161=)
| gnomAD v4 |
1 | g.1232761G= | CA1143942793 | B3GALT6 | c.483G= (p.Ala161=)
| |
1 | g.1232761G>T | CA415761237 | B3GALT6 | c.483G>T (p.Ala161=)
| gnomAD v4 |
1 | g.1232762C>A | CA415761238 | B3GALT6 | c.484C>A (p.Arg162=)
| gnomAD v4 |
1 | g.1232762C= | CA1148811151 | B3GALT6 | c.484C= (p.Arg162=)
| |
1 | g.1232762C>G | CA337825961 | B3GALT6 | c.484C>G (p.Arg162Gly)
| |
1 | g.1232762C>T | CA337825962 | B3GALT6 | c.484C>T (p.Arg162Trp)
| ClinVar dbSNP gnomAD v4 COSMIC |
1 | g.1232763G>A | CA513357 | B3GALT6 | c.485G>A (p.Arg162Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232763G>C | CA337825963 | B3GALT6 | c.485G>C (p.Arg162Pro)
| dbSNP gnomAD v4 |
1 | g.1232763G= | CA1144151202 | B3GALT6 | c.485G= (p.Arg162=)
| |
1 | g.1232763G>T | CA337825964 | B3GALT6 | c.485G>T (p.Arg162Leu)
| gnomAD v4 |
1 | g.1232764G>A | CA415761239 | B3GALT6 | c.486G>A (p.Arg162=)
| gnomAD v4 |
1 | g.1232764G>C | CA415761241 | B3GALT6 | c.486G>C (p.Arg162=)
| gnomAD v4 |
1 | g.1232764G>T | CA415761240 | B3GALT6 | c.486G>T (p.Arg162=)
| gnomAD v4 |
1 | g.1232769_1232780del | CA2642525558 | B3GALT6 | c.491_502del (p.Asp164_Leu167del)
| gnomAD v4 |
1 | g.1232765C>A | CA337825967 | B3GALT6 | c.487C>A (p.Leu163Met)
| gnomAD v4 |
1 | g.1232765C= | CA1148811160 | B3GALT6 | c.487C= (p.Leu163=)
| |
1 | g.1232765C>G | CA337825969 | B3GALT6 | c.487C>G (p.Leu163Val)
| dbSNP gnomAD v4 |
1 | g.1232765C>T | CA415761243 | B3GALT6 | c.487C>T (p.Leu163=)
| gnomAD v4 |
1 | g.1232766T>A | CA337825971 | B3GALT6 | c.488T>A (p.Leu163Gln)
| |
1 | g.1232766T>C | CA337825973 | B3GALT6 | c.488T>C (p.Leu163Pro)
| gnomAD v4 |
1 | g.1232766T>G | CA337825975 | B3GALT6 | c.488T>G (p.Leu163Arg)
| |
1 | g.1232767G>A | CA415761246 | B3GALT6 | c.489G>A (p.Leu163=)
| ClinVar dbSNP gnomAD v4 |
1 | g.1232767G>C | CA415761247 | B3GALT6 | c.489G>C (p.Leu163=)
| gnomAD v4 |
1 | g.1232767G= | CA1148811163 | B3GALT6 | c.489G= (p.Leu163=)
| |
1 | g.1232767G>T | CA415761248 | B3GALT6 | c.489G>T (p.Leu163=)
| gnomAD v4 |
1 | g.1232768del | CA2642525570 | B3GALT6 | c.490del (p.Asp164ThrfsTer?)
| gnomAD v4 |
1 | g.1232768_1232796dup | CA2573130696 | B3GALT6 | c.490_518dup (p.Glu174ThrfsTer?)
| ClinVar dbSNP |
1 | g.1232768G>A | CA337825978 | B3GALT6 | c.490G>A (p.Asp164Asn)
| gnomAD v4 |
1 | g.1232768G>C | CA337825983 | B3GALT6 | c.490G>C (p.Asp164His)
| gnomAD v4 |
1 | g.1232768G>T | CA337825981 | B3GALT6 | c.490G>T (p.Asp164Tyr)
| gnomAD v4 |
1 | g.1232769A= | CA1146801372 | B3GALT6 | c.491A= (p.Asp164=)
| |
1 | g.1232769A>C | CA513358 | B3GALT6 | c.491A>C (p.Asp164Ala)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232769A>G | CA337825993 | B3GALT6 | c.491A>G (p.Asp164Gly)
| gnomAD v4 |
1 | g.1232769A>T | CA337825996 | B3GALT6 | c.491A>T (p.Asp164Val)
| dbSNP gnomAD v2 |
1 | g.1232770C>A | CA337825998 | B3GALT6 | c.492C>A (p.Asp164Glu)
| gnomAD v4 |
1 | g.1232770C>G | CA337826002 | B3GALT6 | c.492C>G (p.Asp164Glu)
| gnomAD v4 |
1 | g.1232770C>T | CA415761252 | B3GALT6 | c.492C>T (p.Asp164=)
| gnomAD v4 |
1 | g.1232772_1232783dup | CA997676200 | B3GALT6 | c.494_505dup (p.Ala168_Glu169insAlaLeuLeuAla)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.1232775_1232807dup | CA2642525580 | B3GALT6 | c.497_529dup (p.Ala176_Arg177insLeuLeuAlaGluLeuArgAlaArgGluProAla)
| gnomAD v4 |
1 | g.1232771G>A | CA337826032 | B3GALT6 | c.493G>A (p.Ala165Thr)
| gnomAD v4 |
1 | g.1232771G>C | CA337826047 | B3GALT6 | c.493G>C (p.Ala165Pro)
| |
1 | g.1232771G>T | CA337826034 | B3GALT6 | c.493G>T (p.Ala165Ser)
| gnomAD v4 |
1 | g.1232772C>A | CA337826052 | B3GALT6 | c.494C>A (p.Ala165Glu)
| gnomAD v4 |
1 | g.1232772C= | CA1148811178 | B3GALT6 | c.494C= (p.Ala165=)
| |
1 | g.1232772C>G | CA337826055 | B3GALT6 | c.494C>G (p.Ala165Gly)
| gnomAD v4 |
1 | g.1232772C>T | CA513359 | B3GALT6 | c.494C>T (p.Ala165Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.1232773G>A | CA415761255 | B3GALT6 | c.495G>A (p.Ala165=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.1232773G>C | CA415761254 | B3GALT6 | c.495G>C (p.Ala165=)
| |
1 | g.1232773G= | CA1148811199 | B3GALT6 | c.495G= (p.Ala165=)
| |
1 | g.1232773G>T | CA415761253 | B3GALT6 | c.495G>T (p.Ala165=)
| gnomAD v4 |
1 | g.1232777_1232779del | CA2642525588 | B3GALT6 | c.499_501del (p.Leu167del)
| gnomAD v4 |
1 | g.1232778_1232789dup | CA2642525586 | B3GALT6 | c.500_511dup (p.Leu170_Arg171insLeuAlaGluLeu)
| gnomAD v4 |
1 | g.1232778_1232789del | CA2642525591 | B3GALT6 | c.500_511del (p.Leu167_Leu170del)
| gnomAD v4 |
1 | g.1232774C>A | CA337826068 | B3GALT6 | c.496C>A (p.Leu166Met)
| gnomAD v4 |
1 | g.1232774C>G | CA337826072 | B3GALT6 | c.496C>G (p.Leu166Val)
| gnomAD v4 |
1 | g.1232774C>T | CA415761256 | B3GALT6 | c.496C>T (p.Leu166=)
| gnomAD v4 |
1 | g.1232775T>A | CA337826078 | B3GALT6 | c.497T>A (p.Leu166Gln)
| |
1 | g.1232775T>C | CA337826079 | B3GALT6 | c.497T>C (p.Leu166Pro)
| gnomAD v4 |
1 | g.1232775T>G | CA337826082 | B3GALT6 | c.497T>G (p.Leu166Arg)
| |
1 | g.1232776G>A | CA513360 | B3GALT6 | c.498G>A (p.Leu166=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.1232776G>C | CA415761261 | B3GALT6 | c.498G>C (p.Leu166=)
| gnomAD v4 |
1 | g.1232776G= | CA1148811208 | B3GALT6 | c.498G= (p.Leu166=)
| |
1 | g.1232776G>T | CA415761262 | B3GALT6 | c.498G>T (p.Leu166=)
| gnomAD v4 |
1 | g.1232777C>A | CA337826102 | B3GALT6 | c.499C>A (p.Leu167Met)
| gnomAD v4 |
1 | g.1232777C= | CA1148811219 | B3GALT6 | c.499C= (p.Leu167=)
| |
1 | g.1232777C>G | CA337826104 | B3GALT6 | c.499C>G (p.Leu167Val)
| gnomAD v4 |
1 | g.1232777C>T | CA513361 | B3GALT6 | c.499C>T (p.Leu167=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232778T>A | CA337826106 | B3GALT6 | c.500T>A (p.Leu167Gln)
| |
1 | g.1232778T>C | CA337826112 | B3GALT6 | c.500T>C (p.Leu167Pro)
| dbSNP gnomAD v4 COSMIC |
1 | g.1232778T>G | CA337826108 | B3GALT6 | c.500T>G (p.Leu167Arg)
| gnomAD v4 |
1 | g.1232778T= | CA1148811225 | B3GALT6 | c.500T= (p.Leu167=)
| |
1 | g.1232779G>A | CA415761263 | B3GALT6 | c.501G>A (p.Leu167=)
| gnomAD v4 |
1 | g.1232779G>C | CA415761264 | B3GALT6 | c.501G>C (p.Leu167=)
| gnomAD v4 |
1 | g.1232779G>T | CA415761265 | B3GALT6 | c.501G>T (p.Leu167=)
| gnomAD v4 |
1 | g.1232780del | CA2642525603 | B3GALT6 | c.502del (p.Ala168ProfsTer?)
| gnomAD v4 |
1 | g.1232780G>A | CA337826114 | B3GALT6 | c.502G>A (p.Ala168Thr)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.1232780G>C | CA337826117 | B3GALT6 | c.502G>C (p.Ala168Pro)
| gnomAD v4 |
1 | g.1232780G= | CA1148811230 | B3GALT6 | c.502G= (p.Ala168=)
| |
1 | g.1232780G>T | CA337826121 | B3GALT6 | c.502G>T (p.Ala168Ser)
| gnomAD v4 |
1 | g.1232781C>A | CA337826138 | B3GALT6 | c.503C>A (p.Ala168Asp)
| dbSNP gnomAD v4 |
1 | g.1232781C= | CA1148811238 | B3GALT6 | c.503C= (p.Ala168=)
| |
1 | g.1232781C>G | CA337826144 | B3GALT6 | c.503C>G (p.Ala168Gly)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.1232781C>T | CA513362 | B3GALT6 | c.503C>T (p.Ala168Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.1232782C>A | CA415761272 | B3GALT6 | c.504C>A (p.Ala168=)
| gnomAD v4 |
1 | g.1232782C= | CA1148811276 | B3GALT6 | c.504C= (p.Ala168=)
| |
1 | g.1232782C>G | CA415761274 | B3GALT6 | c.504C>G (p.Ala168=)
| ClinVar dbSNP gnomAD v4 |
1 | g.1232782C>T | CA415761268 | B3GALT6 | c.504C>T (p.Ala168=)
| gnomAD v4 |
1 | g.1232782_1232783insAC | CA916088841 | B3GALT6 | c.504_505insAC (p.Glu169ThrfsTer?)
| dbSNP |
1 | g.1232787_1232801del | CA2642525612 | B3GALT6 | c.509_523del (p.Leu170_Glu174del)
| gnomAD v4 |
1 | g.1232783G>A | CA513363 | B3GALT6 | c.505G>A (p.Glu169Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.1232783G>C | CA337826154 | B3GALT6 | c.505G>C (p.Glu169Gln)
| |
1 | g.1232783G= | CA1148811288 | B3GALT6 | c.505G= (p.Glu169=)
| |
1 | g.1232783G>T | CA337826167 | B3GALT6 | c.505G>T (p.Glu169Ter)
| gnomAD v4 |
1 | g.1232784A= | CA1148811294 | B3GALT6 | c.506A= (p.Glu169=)
| |
1 | g.1232784A>C | CA337826181 | B3GALT6 | c.506A>C (p.Glu169Ala)
| |
1 | g.1232784A>G | CA337826183 | B3GALT6 | c.506A>G (p.Glu169Gly)
| dbSNP gnomAD v4 |
1 | g.1232784A>T | CA337826184 | B3GALT6 | c.506A>T (p.Glu169Val)
| dbSNP gnomAD v4 |
1 | g.1232785G>A | CA415761280 | B3GALT6 | c.507G>A (p.Glu169=)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.1232785G>C | CA337826185 | B3GALT6 | c.507G>C (p.Glu169Asp)
| gnomAD v4 |
1 | g.1232785G= | CA1148811298 | B3GALT6 | c.507G= (p.Glu169=)
| |
1 | g.1232785G>T | CA337826186 | B3GALT6 | c.507G>T (p.Glu169Asp)
| gnomAD v4 |
1 | g.1232786C>A | CA337826187 | B3GALT6 | c.508C>A (p.Leu170Met)
| dbSNP gnomAD v4 |
1 | g.1232786C= | CA1148811308 | B3GALT6 | c.508C= (p.Leu170=)
| |
1 | g.1232786C>G | CA337826188 | B3GALT6 | c.508C>G (p.Leu170Val)
| |
1 | g.1232786C>T | CA513364 | B3GALT6 | c.508C>T (p.Leu170=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232787T>A | CA337826190 | B3GALT6 | c.509T>A (p.Leu170Gln)
| |
1 | g.1232787T>C | CA337826191 | B3GALT6 | c.509T>C (p.Leu170Pro)
| dbSNP gnomAD v4 |
1 | g.1232787T>G | CA337826192 | B3GALT6 | c.509T>G (p.Leu170Arg)
| |
1 | g.1232787_1232795delinsTGCGCGCCC | CA1148811315 | B3GALT6 | c.509_517delinsTGCGCGCCC (p.Leu170=)
| |
1 | g.1232788G>A | CA415761292 | B3GALT6 | c.510G>A (p.Leu170=)
| gnomAD v4 |
1 | g.1232788G>C | CA415761293 | B3GALT6 | c.510G>C (p.Leu170=)
| |
1 | g.1232788G>T | CA415761295 | B3GALT6 | c.510G>T (p.Leu170=)
| |
1 | g.1232791_1232798del | CA513365 | B3GALT6 | c.513_520del (p.Glu174AlafsTer?)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232795_1232810dup | CA2642525618 | B3GALT6 | c.517_532dup (p.Arg178ProfsTer?)
| gnomAD v4 |
1 | g.1232795_1232810del | CA2642525620 | B3GALT6 | c.517_532del (p.Arg173AlafsTer?)
| gnomAD v4 |
1 | g.1232789C>A | CA337826195 | B3GALT6 | c.511C>A (p.Arg171Ser)
| gnomAD v4 |
1 | g.1232789C= | CA1148811322 | B3GALT6 | c.511C= (p.Arg171=)
| |
1 | g.1232789C>G | CA337826197 | B3GALT6 | c.511C>G (p.Arg171Gly)
| dbSNP |
1 | g.1232789C>T | CA513366 | B3GALT6 | c.511C>T (p.Arg171Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232793_1232846del | CA2642525627 | B3GALT6 | c.515_568del (p.Ala172_Arg189del)
| gnomAD v4 |
1 | g.1232790G>A | CA337826200 | B3GALT6 | c.512G>A (p.Arg171His)
| ClinVar gnomAD v4 |
1 | g.1232790G>C | CA337826204 | B3GALT6 | c.512G>C (p.Arg171Pro)
| |
1 | g.1232790G>T | CA337826214 | B3GALT6 | c.512G>T (p.Arg171Leu)
| gnomAD v4 |
1 | g.1232791C>A | CA415761297 | B3GALT6 | c.513C>A (p.Arg171=)
| gnomAD v4 |
1 | g.1232791C= | CA1148811326 | B3GALT6 | c.513C= (p.Arg171=)
| |
1 | g.1232791C>G | CA415761298 | B3GALT6 | c.513C>G (p.Arg171=)
| |
1 | g.1232791C>T | CA415761296 | B3GALT6 | c.513C>T (p.Arg171=)
| gnomAD v4 |
1 | g.1232792G>A | CA337826220 | B3GALT6 | c.514G>A (p.Ala172Thr)
| gnomAD v4 |
1 | g.1232792G>C | CA337826218 | B3GALT6 | c.514G>C (p.Ala172Pro)
| dbSNP gnomAD v4 |
1 | g.1232792G= | CA1148811340 | B3GALT6 | c.514G= (p.Ala172=)
| |
1 | g.1232792G>T | CA337826219 | B3GALT6 | c.514G>T (p.Ala172Ser)
| gnomAD v4 |
1 | g.1232799_1232806dup | CA886926696 | B3GALT6 | c.521_528dup (p.Arg177SerfsTer?)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.1232799_1232806del | CA2642525633 | B3GALT6 | c.521_528del (p.Glu174AlafsTer?)
| gnomAD v4 |
1 | g.1232793C>A | CA337826221 | B3GALT6 | c.515C>A (p.Ala172Asp)
| gnomAD v4 |
1 | g.1232793C= | CA1143430724 | B3GALT6 | c.515C= (p.Ala172=)
| |
1 | g.1232793C>G | CA337826248 | B3GALT6 | c.515C>G (p.Ala172Gly)
| |
1 | g.1232793C>T | CA513367 | B3GALT6 | c.515C>T (p.Ala172Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |