| 1 | g.1232435_1232479del | CA2642524290 | B3GALT6 | c.157_201del (p.Ala53_Pro67del)
| gnomAD v4 |
| 1 | g.1232429_1232472del | CA2642524298 | B3GALT6 | c.151_194del (p.Ala51ArgfsTer?)
| gnomAD v4 |
| 1 | g.1232448_1232489del | CA2642524333 | B3GALT6 | c.170_211del (p.Ala57_Ala70del)
| 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=)
| |
| 1 | g.1232472G>A | CA337823354 | B3GALT6 | c.194G>A (p.Ser65Asn)
| gnomAD v4 |
| 1 | g.1232472G>C | CA337823366 | B3GALT6 | c.194G>C (p.Ser65Thr)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.1232472G>T | CA337823368 | B3GALT6 | c.194G>T (p.Ser65Ile)
| gnomAD v4 |
| 1 | g.1232476_1232477del | CA2642524410 | B3GALT6 | c.198_199del (p.Ala69ArgfsTer?)
| gnomAD v4 |
| 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.1232473C>A | CA337823370 | B3GALT6 | c.195C>A (p.Ser65Arg)
| gnomAD v4 |
| 1 | g.1232473C= | CA1146274508 | B3GALT6 | c.195C= (p.Ser65=)
| |
| 1 | g.1232473C>G | CA337823373 | B3GALT6 | c.195C>G (p.Ser65Arg)
| |
| 1 | g.1232473C>T | CA16755154 | B3GALT6 | c.195C>T (p.Ser65=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232474G>A | CA337823391 | B3GALT6 | c.196G>A (p.Ala66Thr)
| gnomAD v4 |
| 1 | g.1232474G>C | CA337823387 | B3GALT6 | c.196G>C (p.Ala66Pro)
| gnomAD v4 |
| 1 | g.1232474G>T | CA337823381 | B3GALT6 | c.196G>T (p.Ala66Ser)
| gnomAD v4 |
| 1 | g.1232475C>A | CA337823393 | B3GALT6 | c.197C>A (p.Ala66Glu)
| gnomAD v4 |
| 1 | g.1232475C>G | CA337823398 | B3GALT6 | c.197C>G (p.Ala66Gly)
| |
| 1 | g.1232475C>T | CA337823400 | B3GALT6 | c.197C>T (p.Ala66Val)
| gnomAD v4 |
| 1 | g.1232479_1232488del | CA2573051355 | B3GALT6 | c.201_210del (p.Arg68SerfsTer5)
| ClinVar dbSNP |
| 1 | g.1232476G>A | CA415761043 | B3GALT6 | c.198G>A (p.Ala66=)
| ClinVar gnomAD v4 |
| 1 | g.1232476G>C | CA415761044 | B3GALT6 | c.198G>C (p.Ala66=)
| |
| 1 | g.1232476G= | CA1148809207 | B3GALT6 | c.198G= (p.Ala66=)
| |
| 1 | g.1232476G>T | CA415761045 | B3GALT6 | c.198G>T (p.Ala66=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232476_1232477insGC | CA2573320563 | B3GALT6 | c.198_199insGC (p.Pro67AlafsTer10)
| |
| 1 | g.1232476_1232477insGCCCCCCCCCCCC | CA1139768734 | B3GALT6 | c.198_199insGCCCCCCCCCCCC (p.Pro67AlafsTer?)
| |
| 1 | g.1232476_1232477insGCCCCCCCCCCCCC | CA2573051211 | B3GALT6 | c.198_199insGCCCCCCCCCCCCC (p.Pro67AlafsTer14)
| |
| 1 | g.1232477C>A | CA337823417 | B3GALT6 | c.199C>A (p.Pro67Thr)
| ClinVar gnomAD v4 |
| 1 | g.1232477C>G | CA337823418 | B3GALT6 | c.199C>G (p.Pro67Ala)
| |
| 1 | g.1232477C>T | CA337823419 | B3GALT6 | c.199C>T (p.Pro67Ser)
| ClinVar gnomAD v4 |
| 1 | g.1232480_1232481insCCCCCCCCCC | CA2499213998 | B3GALT6 | c.202_203insCCCCCCCCCC (p.Arg68ProfsTer?)
| |
| 1 | g.1232480_1232481insCCCCCCCCCCCCC | CA1139770254 | B3GALT6 | c.202_203insCCCCCCCCCCCCC (p.Arg68ProfsTer?)
| |
| 1 | g.1232480_1232481insCCCCCCCCCCCCCCCCC | CA2499307163 | B3GALT6 | c.202_203insCCCCCCCCCCCCCCCCC (p.Arg68ProfsTer14)
| |
| 1 | g.1232480del | CA2642524421 | B3GALT6 | c.202del (p.Arg68AlafsTer8)
| gnomAD v4 |
| 1 | g.1232478C>A | CA337823420 | B3GALT6 | c.200C>A (p.Pro67His)
| |
| 1 | g.1232478C= | CA1144228641 | B3GALT6 | c.200C= (p.Pro67=)
| |
| 1 | g.1232478C>G | CA337823421 | B3GALT6 | c.200C>G (p.Pro67Arg)
| |
| 1 | g.1232478C>T | CA144527 | B3GALT6 | c.200C>T (p.Pro67Leu)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.1232479C>A | CA415761054 | B3GALT6 | c.201C>A (p.Pro67=)
| gnomAD v4 |
| 1 | g.1232479C>G | CA415761057 | B3GALT6 | c.201C>G (p.Pro67=)
| gnomAD v4 |
| 1 | g.1232479C>T | CA415761058 | B3GALT6 | c.201C>T (p.Pro67=)
| gnomAD v4 |
| 1 | g.1232479_1232480insG | CA2642524436 | B3GALT6 | c.201_202insG (p.Arg68AlafsTer?)
| gnomAD v4 |
| 1 | g.1232480C>A | CA337823424 | B3GALT6 | c.202C>A (p.Arg68Ser)
| dbSNP gnomAD v4 |
| 1 | g.1232480C>G | CA337823425 | B3GALT6 | c.202C>G (p.Arg68Gly)
| ClinVar |
| 1 | g.1232480C>T | CA337823432 | B3GALT6 | c.202C>T (p.Arg68Cys)
| gnomAD v4 |
| 1 | g.1232481G>A | CA337823437 | B3GALT6 | c.203G>A (p.Arg68His)
| gnomAD v4 |
| 1 | g.1232481G>C | CA337823436 | B3GALT6 | c.203G>C (p.Arg68Pro)
| ClinVar |
| 1 | g.1232481G>T | CA337823434 | B3GALT6 | c.203G>T (p.Arg68Leu)
| gnomAD v4 |
| 1 | g.1232488_1232497del | CA2642524438 | B3GALT6 | c.210_219del (p.Glu71AlafsTer2)
| gnomAD v4 |
| 1 | g.1232482C>A | CA415761071 | B3GALT6 | c.204C>A (p.Arg68=)
| gnomAD v4 |
| 1 | g.1232482C= | CA1148809230 | B3GALT6 | c.204C= (p.Arg68=)
| |
| 1 | g.1232482C>G | CA415761069 | B3GALT6 | c.204C>G (p.Arg68=)
| |
| 1 | g.1232482C>T | CA415761073 | B3GALT6 | c.204C>T (p.Arg68=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1232483G>A | CA337823439 | B3GALT6 | c.205G>A (p.Ala69Thr)
| gnomAD v4 |
| 1 | g.1232483G>C | CA337823442 | B3GALT6 | c.205G>C (p.Ala69Pro)
| |
| 1 | g.1232483G= | CA1148809235 | B3GALT6 | c.205G= (p.Ala69=)
| |
| 1 | g.1232483G>T | CA337823441 | B3GALT6 | c.205G>T (p.Ala69Ser)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232484C>A | CA337823444 | B3GALT6 | c.206C>A (p.Ala69Asp)
| gnomAD v4 |
| 1 | g.1232484C= | CA1148809260 | B3GALT6 | c.206C= (p.Ala69=)
| |
| 1 | g.1232484C>G | CA337823445 | B3GALT6 | c.206C>G (p.Ala69Gly)
| |
| 1 | g.1232484C>T | CA337823446 | B3GALT6 | c.206C>T (p.Ala69Val)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232485C>A | CA415761085 | B3GALT6 | c.207C>A (p.Ala69=)
| gnomAD v4 |
| 1 | g.1232485C= | CA1148809270 | B3GALT6 | c.207C= (p.Ala69=)
| |
| 1 | g.1232485C>G | CA415761088 | B3GALT6 | c.207C>G (p.Ala69=)
| |
| 1 | g.1232485C>T | CA415761089 | B3GALT6 | c.207C>T (p.Ala69=)
| dbSNP gnomAD v4 |
| 1 | g.1232486G>A | CA337823447 | B3GALT6 | c.208G>A (p.Ala70Thr)
| dbSNP gnomAD v4 |
| 1 | g.1232486G>C | CA337823449 | B3GALT6 | c.208G>C (p.Ala70Pro)
| |
| 1 | g.1232486G= | CA1148809293 | B3GALT6 | c.208G= (p.Ala70=)
| |
| 1 | g.1232486G>T | CA337823453 | B3GALT6 | c.208G>T (p.Ala70Ser)
| dbSNP gnomAD v4 |
| 1 | g.1232487C>A | CA337823454 | B3GALT6 | c.209C>A (p.Ala70Asp)
| gnomAD v4 |
| 1 | g.1232487C= | CA1148809297 | B3GALT6 | c.209C= (p.Ala70=)
| |
| 1 | g.1232487C>G | CA337823456 | B3GALT6 | c.209C>G (p.Ala70Gly)
| |
| 1 | g.1232487C>T | CA337823457 | B3GALT6 | c.209C>T (p.Ala70Val)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232488C>A | CA415761103 | B3GALT6 | c.210C>A (p.Ala70=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232488C= | CA1148809316 | B3GALT6 | c.210C= (p.Ala70=)
| |
| 1 | g.1232488C>G | CA415761105 | B3GALT6 | c.210C>G (p.Ala70=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1232488C>T | CA415761107 | B3GALT6 | c.210C>T (p.Ala70=)
| gnomAD v4 |
| 1 | g.1232489_1232519dup | CA2642524451 | B3GALT6 | c.211_241dup (p.Leu81ArgfsTer?)
| gnomAD v4 |
| 1 | g.1232489G>A | CA337823458 | B3GALT6 | c.211G>A (p.Glu71Lys)
| gnomAD v4 |
| 1 | g.1232489G>C | CA337823459 | B3GALT6 | c.211G>C (p.Glu71Gln)
| |
| 1 | g.1232489G= | CA1148809324 | B3GALT6 | c.211G= (p.Glu71=)
| |
| 1 | g.1232489G>T | CA337823460 | B3GALT6 | c.211G>T (p.Glu71Ter)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.1232489_1232493del | CA2573129751 | B3GALT6 | c.211_215del (p.Glu71ProfsTer?)
| |
| 1 | g.1232490A= | CA1148809332 | B3GALT6 | c.212A= (p.Glu71=)
| |
| 1 | g.1232490A>C | CA337823463 | B3GALT6 | c.212A>C (p.Glu71Ala)
| gnomAD v4 |
| 1 | g.1232490A>G | CA337823461 | B3GALT6 | c.212A>G (p.Glu71Gly)
| dbSNP gnomAD v4 |
| 1 | g.1232490A>T | CA337823462 | B3GALT6 | c.212A>T (p.Glu71Val)
| |
| 1 | g.1232491G>A | CA415761124 | B3GALT6 | c.213G>A (p.Glu71=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232491G>C | CA337823464 | B3GALT6 | c.213G>C (p.Glu71Asp)
| |
| 1 | g.1232491G= | CA1148809346 | B3GALT6 | c.213G= (p.Glu71=)
| |
| 1 | g.1232491G>T | CA337823465 | B3GALT6 | c.213G>T (p.Glu71Asp)
| |
| 1 | g.1232491_1232505dup | CA520658935 | B3GALT6 | c.213_227dup (p.Val75_Ile76insMetArgArgSerVal)
| dbSNP gnomAD v2 |
| 1 | g.1232492C>A | CA337823467 | B3GALT6 | c.214C>A (p.Arg72Ser)
| gnomAD v4 |
| 1 | g.1232492C= | CA1148809357 | B3GALT6 | c.214C= (p.Arg72=)
| |
| 1 | g.1232492C>G | CA337823470 | B3GALT6 | c.214C>G (p.Arg72Gly)
| |
| 1 | g.1232492C>T | CA337823472 | B3GALT6 | c.214C>T (p.Arg72Cys)
| dbSNP gnomAD v4 |
| 1 | g.1232495_1232509dup | CA997676025 | B3GALT6 | c.217_231dup (p.Arg77_Ser78insArgSerValIleArg)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232493G>A | CA337823473 | B3GALT6 | c.215G>A (p.Arg72His)
| gnomAD v4 |
| 1 | g.1232493G>C | CA337823475 | B3GALT6 | c.215G>C (p.Arg72Pro)
| |
| 1 | g.1232493G>T | CA337823478 | B3GALT6 | c.215G>T (p.Arg72Leu)
| gnomAD v4 |
| 1 | g.1232494C>A | CA415761126 | B3GALT6 | c.216C>A (p.Arg72=)
| |
| 1 | g.1232494C>G | CA415761136 | B3GALT6 | c.216C>G (p.Arg72=)
| |
| 1 | g.1232494C>T | CA415761138 | B3GALT6 | c.216C>T (p.Arg72=)
| gnomAD v4 |
| 1 | g.1232495C>A | CA337823482 | B3GALT6 | c.217C>A (p.Arg73Ser)
| gnomAD v4 |
| 1 | g.1232495C= | CA1148809370 | B3GALT6 | c.217C= (p.Arg73=)
| |
| 1 | g.1232495C>G | CA337823483 | B3GALT6 | c.217C>G (p.Arg73Gly)
| |
| 1 | g.1232495C>T | CA337823484 | B3GALT6 | c.217C>T (p.Arg73Cys)
| dbSNP gnomAD v4 |
| 1 | g.1232496G>A | CA337823488 | B3GALT6 | c.218G>A (p.Arg73His)
| gnomAD v3 gnomAD v4 |
| 1 | g.1232496G>C | CA337823487 | B3GALT6 | c.218G>C (p.Arg73Pro)
| |
| 1 | g.1232496G= | CA1148809384 | B3GALT6 | c.218G= (p.Arg73=)
| |
| 1 | g.1232496G>T | CA337823485 | B3GALT6 | c.218G>T (p.Arg73Leu)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232497C>A | CA415761145 | B3GALT6 | c.219C>A (p.Arg73=)
| gnomAD v4 |
| 1 | g.1232497C>G | CA415761146 | B3GALT6 | c.219C>G (p.Arg73=)
| gnomAD v4 |
| 1 | g.1232497C>T | CA415761152 | B3GALT6 | c.219C>T (p.Arg73=)
| gnomAD v4 |
| 1 | g.1232498A>C | CA337823490 | B3GALT6 | c.220A>C (p.Ser74Arg)
| |
| 1 | g.1232498A>G | CA337823492 | B3GALT6 | c.220A>G (p.Ser74Gly)
| gnomAD v4 |
| 1 | g.1232498A>T | CA337823493 | B3GALT6 | c.220A>T (p.Ser74Cys)
| ClinVar |
| 1 | g.1232499G>A | CA337823496 | B3GALT6 | c.221G>A (p.Ser74Asn)
| |
| 1 | g.1232499G>C | CA337823498 | B3GALT6 | c.221G>C (p.Ser74Thr)
| gnomAD v4 |
| 1 | g.1232499G>T | CA337823503 | B3GALT6 | c.221G>T (p.Ser74Ile)
| gnomAD v4 |
| 1 | g.1232500C>A | CA337823508 | B3GALT6 | c.222C>A (p.Ser74Arg)
| gnomAD v4 |
| 1 | g.1232500C>G | CA337823506 | B3GALT6 | c.222C>G (p.Ser74Arg)
| gnomAD v4 |
| 1 | g.1232500C>T | CA415761162 | B3GALT6 | c.222C>T (p.Ser74=)
| gnomAD v4 |
| 1 | g.1232501G>A | CA337823510 | B3GALT6 | c.223G>A (p.Val75Met)
| gnomAD v4 |
| 1 | g.1232501G>C | CA337823511 | B3GALT6 | c.223G>C (p.Val75Leu)
| |
| 1 | g.1232501G>T | CA337823513 | B3GALT6 | c.223G>T (p.Val75Leu)
| dbSNP |
| 1 | g.1232502T>A | CA337823519 | B3GALT6 | c.224T>A (p.Val75Glu)
| |
| 1 | g.1232502T>C | CA337823520 | B3GALT6 | c.224T>C (p.Val75Ala)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.1232502T>G | CA337823523 | B3GALT6 | c.224T>G (p.Val75Gly)
| |
| 1 | g.1232502T= | CA1148809410 | B3GALT6 | c.224T= (p.Val75=)
| |
| 1 | g.1232503G>A | CA415761167 | B3GALT6 | c.225G>A (p.Val75=)
| gnomAD v4 |
| 1 | g.1232503G>C | CA415761168 | B3GALT6 | c.225G>C (p.Val75=)
| dbSNP gnomAD v4 |
| 1 | g.1232503G= | CA1148809412 | B3GALT6 | c.225G= (p.Val75=)
| |
| 1 | g.1232503G>T | CA415761169 | B3GALT6 | c.225G>T (p.Val75=)
| |
| 1 | g.1232504_1232515dup | CA2642524493 | B3GALT6 | c.226_237dup (p.Thr79_Trp80insIleArgSerThr)
| gnomAD v4 |
| 1 | g.1232504A>C | CA337823526 | B3GALT6 | c.226A>C (p.Ile76Leu)
| |
| 1 | g.1232504A>G | CA337823540 | B3GALT6 | c.226A>G (p.Ile76Val)
| gnomAD v4 |
| 1 | g.1232504A>T | CA337823538 | B3GALT6 | c.226A>T (p.Ile76Phe)
| gnomAD v4 |
| 1 | g.1232504_1232505delinsAT | CA1148809416 | B3GALT6 | c.226_227delinsAT (p.Ile76=)
| |
| 1 | g.1232505del | CA1148809425 | B3GALT6 | c.227del (p.Ile76ThrfsTer?)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.1232505T>A | CA337823542 | B3GALT6 | c.227T>A (p.Ile76Asn)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232505T>C | CA337823544 | B3GALT6 | c.227T>C (p.Ile76Thr)
| gnomAD v4 |
| 1 | g.1232505T>G | CA337823545 | B3GALT6 | c.227T>G (p.Ile76Ser)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.1232505T= | CA1148809424 | B3GALT6 | c.227T= (p.Ile76=)
| |
| 1 | g.1232506C>A | CA415761175 | B3GALT6 | c.228C>A (p.Ile76=)
| gnomAD v4 |
| 1 | g.1232506C= | CA1148809440 | B3GALT6 | c.228C= (p.Ile76=)
| |
| 1 | g.1232506C>G | CA337823550 | B3GALT6 | c.228C>G (p.Ile76Met)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.1232506C>T | CA415761177 | B3GALT6 | c.228C>T (p.Ile76=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232507C>A | CA337823551 | B3GALT6 | c.229C>A (p.Arg77Ser)
| gnomAD v4 |
| 1 | g.1232507C>G | CA337823552 | B3GALT6 | c.229C>G (p.Arg77Gly)
| gnomAD v4 |
| 1 | g.1232507C>T | CA337823555 | B3GALT6 | c.229C>T (p.Arg77Cys)
| |
| 1 | g.1232508G>A | CA337823556 | B3GALT6 | c.230G>A (p.Arg77His)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1232508G>C | CA337823558 | B3GALT6 | c.230G>C (p.Arg77Pro)
| gnomAD v4 |
| 1 | g.1232508G= | CA1148809450 | B3GALT6 | c.230G= (p.Arg77=)
| |
| 1 | g.1232508G>T | CA337823559 | B3GALT6 | c.230G>T (p.Arg77Leu)
| gnomAD v4 |
| 1 | g.1232509C>A | CA415761182 | B3GALT6 | c.231C>A (p.Arg77=)
| gnomAD v4 |
| 1 | g.1232509C>G | CA415761184 | B3GALT6 | c.231C>G (p.Arg77=)
| |
| 1 | g.1232509C>T | CA415761185 | B3GALT6 | c.231C>T (p.Arg77=)
| |
| 1 | g.1232510A>C | CA337823561 | B3GALT6 | c.232A>C (p.Ser78Arg)
| |
| 1 | g.1232510A>G | CA337823565 | B3GALT6 | c.232A>G (p.Ser78Gly)
| |
| 1 | g.1232510A>T | CA337823563 | B3GALT6 | c.232A>T (p.Ser78Cys)
| |
| 1 | g.1232511G>A | CA337823570 | B3GALT6 | c.233G>A (p.Ser78Asn)
| gnomAD v4 |
| 1 | g.1232511G>C | CA337823577 | B3GALT6 | c.233G>C (p.Ser78Thr)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1232511G= | CA1148809453 | B3GALT6 | c.233G= (p.Ser78=)
| |
| 1 | g.1232511G>T | CA337823576 | B3GALT6 | c.233G>T (p.Ser78Ile)
| |
| 1 | g.1232512C>A | CA337823578 | B3GALT6 | c.234C>A (p.Ser78Arg)
| gnomAD v4 |
| 1 | g.1232512C= | CA1148809461 | B3GALT6 | c.234C= (p.Ser78=)
| |
| 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 |
