1 | g.1232768_1232796dup | CA2573130696 | B3GALT6 | c.490_518dup (p.Glu174ThrfsTer?)
| ClinVar dbSNP |
1 | g.1232775_1232807dup | CA2642525580 | B3GALT6 | c.497_529dup (p.Ala176_Arg177insLeuLeuAlaGluLeuArgAlaArgGluProAla)
| gnomAD v4 |
1 | g.1232787_1232801del | CA2642525612 | B3GALT6 | c.509_523del (p.Leu170_Glu174del)
| gnomAD v4 |
1 | g.1232787_1232795delinsTGCGCGCCC | CA1148811315 | B3GALT6 | c.509_517delinsTGCGCGCCC (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.1232793_1232846del | CA2642525627 | B3GALT6 | c.515_568del (p.Ala172_Arg189del)
| 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 |
1 | g.1232794C>A | CA415761307 | B3GALT6 | c.516C>A (p.Ala172=)
| gnomAD v4 |
1 | g.1232794C>G | CA415761310 | B3GALT6 | c.516C>G (p.Ala172=)
| gnomAD v4 |
1 | g.1232794C>T | CA415761309 | B3GALT6 | c.516C>T (p.Ala172=)
| gnomAD v4 |
1 | g.1232794_1232872delinsCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGG | CA1148811357 | B3GALT6 | c.516_594delinsCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGG (p.Ala172=)
| |
1 | g.1232795C>A | CA337826253 | B3GALT6 | c.517C>A (p.Arg173Ser)
| gnomAD v4 |
1 | g.1232795C>G | CA337826255 | B3GALT6 | c.517C>G (p.Arg173Gly)
| gnomAD v4 |
1 | g.1232795C>T | CA337826254 | B3GALT6 | c.517C>T (p.Arg173Cys)
| gnomAD v4 |
1 | g.1232801_1232878del | CA513368 | B3GALT6 | c.523_600del (p.Pro175_Glu200del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232796G>A | CA513369 | B3GALT6 | c.518G>A (p.Arg173His)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232796G>C | CA337826256 | B3GALT6 | c.518G>C (p.Arg173Pro)
| |
1 | g.1232796G= | CA1145245591 | B3GALT6 | c.518G= (p.Arg173=)
| |
1 | g.1232796G>T | CA337826257 | B3GALT6 | c.518G>T (p.Arg173Leu)
| dbSNP gnomAD v4 |
1 | g.1232796_1232797insGACGCGCTGCTGGC | CA2642525640 | B3GALT6 | c.518_519insGACGCGCTGCTGGC (p.Glu174ThrfsTer?)
| gnomAD v4 |
1 | g.1232797C>A | CA415761316 | B3GALT6 | c.519C>A (p.Arg173=)
| gnomAD v4 |
1 | g.1232797C= | CA1148811368 | B3GALT6 | c.519C= (p.Arg173=)
| |
1 | g.1232797C>G | CA415761318 | B3GALT6 | c.519C>G (p.Arg173=)
| |
1 | g.1232797C>T | CA513370 | B3GALT6 | c.519C>T (p.Arg173=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232798G>A | CA337826260 | B3GALT6 | c.520G>A (p.Glu174Lys)
| gnomAD v4 |
1 | g.1232798G>C | CA513371 | B3GALT6 | c.520G>C (p.Glu174Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232798G= | CA1148811389 | B3GALT6 | c.520G= (p.Glu174=)
| |
1 | g.1232798G>T | CA337826264 | B3GALT6 | c.520G>T (p.Glu174Ter)
| |
1 | g.1232799A>C | CA337826267 | B3GALT6 | c.521A>C (p.Glu174Ala)
| ClinVar |
1 | g.1232799A>G | CA337826268 | B3GALT6 | c.521A>G (p.Glu174Gly)
| ClinVar dbSNP gnomAD v4 |
1 | g.1232799A>T | CA337826269 | B3GALT6 | c.521A>T (p.Glu174Val)
| |
1 | g.1232800G>A | CA415761323 | B3GALT6 | c.522G>A (p.Glu174=)
| gnomAD v4 |
1 | g.1232800G>C | CA513372 | B3GALT6 | c.522G>C (p.Glu174Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232800G= | CA1140346605 | B3GALT6 | c.522G= (p.Glu174=)
| |
1 | g.1232800G>T | CA337826272 | B3GALT6 | c.522G>T (p.Glu174Asp)
| gnomAD v4 |
1 | g.1232803_1232810dup | CA2574213862 | B3GALT6 | c.525_532dup (p.Arg178ProfsTer?)
| dbSNP gnomAD v4 |
1 | g.1232801C>A | CA337826311 | B3GALT6 | c.523C>A (p.Pro175Thr)
| gnomAD v4 |
1 | g.1232801C>G | CA337826278 | B3GALT6 | c.523C>G (p.Pro175Ala)
| ClinVar gnomAD v4 |
1 | g.1232801C>T | CA337826281 | B3GALT6 | c.523C>T (p.Pro175Ser)
| gnomAD v4 |
1 | g.1232801_1232802insTGCGCGCCCGCGACC | CA2642525647 | B3GALT6 | c.523_524insTGCGCGCCCGCGACC (p.Glu174_Pro175insLeuArgAlaArgAsp)
| gnomAD v4 |
1 | g.1232802C>A | CA337826316 | B3GALT6 | c.524C>A (p.Pro175His)
| gnomAD v4 |
1 | g.1232802C>G | CA337826318 | B3GALT6 | c.524C>G (p.Pro175Arg)
| |
1 | g.1232802C>T | CA337826324 | B3GALT6 | c.524C>T (p.Pro175Leu)
| gnomAD v4 COSMIC |
1 | g.1232803C>A | CA415761332 | B3GALT6 | c.525C>A (p.Pro175=)
| gnomAD v4 |
1 | g.1232803C= | CA1148811408 | B3GALT6 | c.525C= (p.Pro175=)
| |
1 | g.1232803C>G | CA415761334 | B3GALT6 | c.525C>G (p.Pro175=)
| gnomAD v4 |
1 | g.1232803C>T | CA513373 | B3GALT6 | c.525C>T (p.Pro175=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.1232806_1232809dup | CA2642525650 | B3GALT6 | c.528_531dup (p.Arg178AlafsTer?)
| gnomAD v4 |
1 | g.1232804G>A | CA337826349 | B3GALT6 | c.526G>A (p.Ala176Thr)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.1232804G>C | CA337826352 | B3GALT6 | c.526G>C (p.Ala176Pro)
| gnomAD v4 |
1 | g.1232804G= | CA1148811418 | B3GALT6 | c.526G= (p.Ala176=)
| |
1 | g.1232804G>T | CA513374 | B3GALT6 | c.526G>T (p.Ala176Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232805C>A | CA337826358 | B3GALT6 | c.527C>A (p.Ala176Glu)
| gnomAD v4 |
1 | g.1232805C= | CA1148811429 | B3GALT6 | c.527C= (p.Ala176=)
| |
1 | g.1232805C>G | CA337826360 | B3GALT6 | c.527C>G (p.Ala176Gly)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.1232805C>T | CA513375 | B3GALT6 | c.527C>T (p.Ala176Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232806G>A | CA415761344 | B3GALT6 | c.528G>A (p.Ala176=)
| dbSNP gnomAD v4 |
1 | g.1232806G>C | CA415761346 | B3GALT6 | c.528G>C (p.Ala176=)
| gnomAD v4 |
1 | g.1232806G= | CA1148811453 | B3GALT6 | c.528G= (p.Ala176=)
| |
1 | g.1232806G>T | CA415761347 | B3GALT6 | c.528G>T (p.Ala176=)
| gnomAD v4 |
1 | g.1232806_1232809delinsGCGC | CA1148811449 | B3GALT6 | c.528_531delinsGCGC (p.Ala176=)
| |
1 | g.1232807C>A | CA337826376 | B3GALT6 | c.529C>A (p.Arg177Ser)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.1232807C= | CA1148811496 | B3GALT6 | c.529C= (p.Arg177=)
| |
1 | g.1232807C>G | CA337826374 | B3GALT6 | c.529C>G (p.Arg177Gly)
| gnomAD v4 |
1 | g.1232807C>T | CA337826367 | B3GALT6 | c.529C>T (p.Arg177Cys)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.1232817_1232819dup | CA16755394 | B3GALT6 | c.539_541dup (p.Arg180_Leu181insArg)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232814_1232819dup | CA2586963991 | B3GALT6 | c.536_541dup (p.Arg180_Leu181insArgArg)
| gnomAD v4 |
1 | g.1232817_1232819del | CA520658950 | B3GALT6 | c.539_541del (p.Arg180del)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.1232814_1232819del | CA2642525659 | B3GALT6 | c.536_541del (p.Arg179_Arg180del)
| gnomAD v4 |
1 | g.1232807_1232840delinsCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGG | CA1148811475 | B3GALT6 | c.529_562delinsCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGG (p.Arg177=)
| |
1 | g.1232808G>A | CA513376 | B3GALT6 | c.530G>A (p.Arg177His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.1232808G>C | CA337826378 | B3GALT6 | c.530G>C (p.Arg177Pro)
| dbSNP |
1 | g.1232808G= | CA1148811505 | B3GALT6 | c.530G= (p.Arg177=)
| |
1 | g.1232808G>T | CA337826379 | B3GALT6 | c.530G>T (p.Arg177Leu)
| gnomAD v4 |
1 | g.1232813_1232845del | CA886926774 | B3GALT6 | c.535_567del (p.Arg179_Arg189del)
| dbSNP |
1 | g.1232809C>A | CA415761352 | B3GALT6 | c.531C>A (p.Arg177=)
| gnomAD v4 |
1 | g.1232809C= | CA1148811516 | B3GALT6 | c.531C= (p.Arg177=)
| |
1 | g.1232809C>G | CA415761355 | B3GALT6 | c.531C>G (p.Arg177=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.1232809C>T | CA415761357 | B3GALT6 | c.531C>T (p.Arg177=)
| dbSNP gnomAD v4 |
1 | g.1232810del | CA2642525674 | B3GALT6 | c.532del (p.Arg178AlafsTer?)
| gnomAD v4 |
1 | g.1232810C>A | CA513377 | B3GALT6 | c.532C>A (p.Arg178Ser)
| dbSNP ExAC gnomAD v4 |
1 | g.1232810C= | CA1148479312 | B3GALT6 | c.532C= (p.Arg178=)
| |
1 | g.1232810C>G | CA337826384 | B3GALT6 | c.532C>G (p.Arg178Gly)
| |
1 | g.1232810C>T | CA337826388 | B3GALT6 | c.532C>T (p.Arg178Cys)
| ClinVar gnomAD v4 |
1 | g.1232811G>A | CA337826391 | B3GALT6 | c.533G>A (p.Arg178His)
| gnomAD v4 |
1 | g.1232811G>C | CA337826394 | B3GALT6 | c.533G>C (p.Arg178Pro)
| |
1 | g.1232811G>T | CA337826396 | B3GALT6 | c.533G>T (p.Arg178Leu)
| ClinVar gnomAD v4 |
1 | g.1232812C>A | CA415761367 | B3GALT6 | c.534C>A (p.Arg178=)
| gnomAD v4 |
1 | g.1232812C>G | CA415761370 | B3GALT6 | c.534C>G (p.Arg178=)
| |
1 | g.1232812C>T | CA415761371 | B3GALT6 | c.534C>T (p.Arg178=)
| gnomAD v4 |
1 | g.1232813C>A | CA337826398 | B3GALT6 | c.535C>A (p.Arg179Ser)
| gnomAD v4 |
1 | g.1232813C= | CA1148811545 | B3GALT6 | c.535C= (p.Arg179=)
| |
1 | g.1232813C>G | CA337826399 | B3GALT6 | c.535C>G (p.Arg179Gly)
| dbSNP |
1 | g.1232813C>T | CA337826403 | B3GALT6 | c.535C>T (p.Arg179Cys)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.1232814G>A | CA513378 | B3GALT6 | c.536G>A (p.Arg179His)
| dbSNP ExAC gnomAD v4 |
1 | g.1232814G>C | CA337826409 | B3GALT6 | c.536G>C (p.Arg179Pro)
| ClinVar |
1 | g.1232814G= | CA1148811567 | B3GALT6 | c.536G= (p.Arg179=)
| |
1 | g.1232814G>T | CA337826411 | B3GALT6 | c.536G>T (p.Arg179Leu)
| gnomAD v4 |
1 | g.1232815C>A | CA415761378 | B3GALT6 | c.537C>A (p.Arg179=)
| gnomAD v4 |
1 | g.1232815C>G | CA415761380 | B3GALT6 | c.537C>G (p.Arg179=)
| |
1 | g.1232815C>T | CA415761381 | B3GALT6 | c.537C>T (p.Arg179=)
| gnomAD v4 |
1 | g.1232816C>A | CA337826412 | B3GALT6 | c.538C>A (p.Arg180Ser)
| gnomAD v4 |
1 | g.1232816C= | CA1148811577 | B3GALT6 | c.538C= (p.Arg180=)
| |
1 | g.1232816C>G | CA337826413 | B3GALT6 | c.538C>G (p.Arg180Gly)
| |
1 | g.1232816C>T | CA16755404 | B3GALT6 | c.538C>T (p.Arg180Cys)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232817G>A | CA337826428 | B3GALT6 | c.539G>A (p.Arg180His)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.1232817G>C | CA337826433 | B3GALT6 | c.539G>C (p.Arg180Pro)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.1232817G= | CA1148811606 | B3GALT6 | c.539G= (p.Arg180=)
| |
1 | g.1232817G>T | CA337826435 | B3GALT6 | c.539G>T (p.Arg180Leu)
| gnomAD v4 |
1 | g.1232817_1232831delinsGCCTCTACTGGGGCT | CA1148811615 | B3GALT6 | c.539_553delinsGCCTCTACTGGGGCT (p.Arg180=)
| |
1 | g.1232818C>A | CA415761388 | B3GALT6 | c.540C>A (p.Arg180=)
| |
1 | g.1232818C= | CA1148811625 | B3GALT6 | c.540C= (p.Arg180=)
| |
1 | g.1232818C>G | CA415761389 | B3GALT6 | c.540C>G (p.Arg180=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232818C>T | CA415761390 | B3GALT6 | c.540C>T (p.Arg180=)
| |
1 | g.1232819_1232821dup | CA2586963992 | B3GALT6 | c.541_543dup (p.Leu181_Tyr182insLeu)
| |
1 | g.1232818_1232831del | CA1148811621 | B3GALT6 | c.540_553del (p.Tyr182LeufsTer?)
| dbSNP |
1 | g.1232819C>A | CA337826437 | B3GALT6 | c.541C>A (p.Leu181Ile)
| ClinVar gnomAD v4 |
1 | g.1232819C>G | CA337826439 | B3GALT6 | c.541C>G (p.Leu181Val)
| gnomAD v4 |
1 | g.1232819C>T | CA337826442 | B3GALT6 | c.541C>T (p.Leu181Phe)
| gnomAD v4 |
1 | g.1232820T>A | CA337826445 | B3GALT6 | c.542T>A (p.Leu181His)
| gnomAD v4 |
1 | g.1232820T>C | CA337826447 | B3GALT6 | c.542T>C (p.Leu181Pro)
| gnomAD v4 |
1 | g.1232820T>G | CA337826450 | B3GALT6 | c.542T>G (p.Leu181Arg)
| |
1 | g.1232821C>A | CA415761393 | B3GALT6 | c.543C>A (p.Leu181=)
| gnomAD v4 |
1 | g.1232821C= | CA1148811636 | B3GALT6 | c.543C= (p.Leu181=)
| |
1 | g.1232821C>G | CA415761392 | B3GALT6 | c.543C>G (p.Leu181=)
| gnomAD v4 |
1 | g.1232821C>T | CA415761391 | B3GALT6 | c.543C>T (p.Leu181=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232822T>A | CA337826454 | B3GALT6 | c.544T>A (p.Tyr182Asn)
| |
1 | g.1232822T>C | CA337826453 | B3GALT6 | c.544T>C (p.Tyr182His)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232822T>G | CA337826452 | B3GALT6 | c.544T>G (p.Tyr182Asp)
| |
1 | g.1232822T= | CA1148811643 | B3GALT6 | c.544T= (p.Tyr182=)
| |
1 | g.1232823A= | CA1148811661 | B3GALT6 | c.545A= (p.Tyr182=)
| |
1 | g.1232823A>C | CA337826475 | B3GALT6 | c.545A>C (p.Tyr182Ser)
| |
1 | g.1232823A>G | CA337826471 | B3GALT6 | c.545A>G (p.Tyr182Cys)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.1232823A>T | CA337826474 | B3GALT6 | c.545A>T (p.Tyr182Phe)
| gnomAD v4 |
1 | g.1232824C>A | CA337826476 | B3GALT6 | c.546C>A (p.Tyr182Ter)
| gnomAD v4 |
1 | g.1232824C= | CA1148811702 | B3GALT6 | c.546C= (p.Tyr182=)
| |
1 | g.1232824C>G | CA337826497 | B3GALT6 | c.546C>G (p.Tyr182Ter)
| |
1 | g.1232824C>T | CA415761403 | B3GALT6 | c.546C>T (p.Tyr182=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232825T>A | CA337826502 | B3GALT6 | c.547T>A (p.Trp183Arg)
| |
1 | g.1232825T>C | CA337826504 | B3GALT6 | c.547T>C (p.Trp183Arg)
| gnomAD v4 |
1 | g.1232825T>G | CA337826505 | B3GALT6 | c.547T>G (p.Trp183Gly)
| |
1 | g.1232826G>A | CA337826507 | B3GALT6 | c.548G>A (p.Trp183Ter)
| gnomAD v4 |
1 | g.1232826G>C | CA513379 | B3GALT6 | c.548G>C (p.Trp183Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.1232826G= | CA1148811707 | B3GALT6 | c.548G= (p.Trp183=)
| |
1 | g.1232826G>T | CA337826514 | B3GALT6 | c.548G>T (p.Trp183Leu)
| gnomAD v4 |
1 | g.1232829dup | CA2740102503 | B3GALT6 | c.551dup (p.Phe185LeufsTer?)
| |
1 | g.1232827G>A | CA513380 | B3GALT6 | c.549G>A (p.Trp183Ter)
| ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
1 | g.1232827G>C | CA337826518 | B3GALT6 | c.549G>C (p.Trp183Cys)
| |
1 | g.1232827G= | CA1148811721 | B3GALT6 | c.549G= (p.Trp183=)
| |
1 | g.1232827G>T | CA337826520 | B3GALT6 | c.549G>T (p.Trp183Cys)
| |
1 | g.1232828G>A | CA337826538 | B3GALT6 | c.550G>A (p.Gly184Ser)
| gnomAD v4 |
1 | g.1232828G>C | CA337826532 | B3GALT6 | c.550G>C (p.Gly184Arg)
| |
1 | g.1232828G>T | CA337826524 | B3GALT6 | c.550G>T (p.Gly184Cys)
| gnomAD v4 |
1 | g.1232829G>A | CA337826540 | B3GALT6 | c.551G>A (p.Gly184Asp)
| gnomAD v4 |
1 | g.1232829G>C | CA337826543 | B3GALT6 | c.551G>C (p.Gly184Ala)
| |
1 | g.1232829G>T | CA337826549 | B3GALT6 | c.551G>T (p.Gly184Val)
| gnomAD v4 |
1 | g.1232829_1232832delinsGCTT | CA1148811726 | B3GALT6 | c.551_554delinsGCTT (p.Gly184=)
| |
1 | g.1232830C>A | CA415761412 | B3GALT6 | c.552C>A (p.Gly184=)
| gnomAD v4 |
1 | g.1232830C= | CA1148811735 | B3GALT6 | c.552C= (p.Gly184=)
| |
1 | g.1232830C>G | CA415761413 | B3GALT6 | c.552C>G (p.Gly184=)
| |
1 | g.1232830C>T | CA415761414 | B3GALT6 | c.552C>T (p.Gly184=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232835_1232837del | CA520658952 | B3GALT6 | c.557_559del (p.Phe186del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232831T>A | CA337826554 | B3GALT6 | c.553T>A (p.Phe185Ile)
| gnomAD v4 |
1 | g.1232831T>C | CA337826556 | B3GALT6 | c.553T>C (p.Phe185Leu)
| dbSNP gnomAD v4 |
1 | g.1232831T>G | CA337826558 | B3GALT6 | c.553T>G (p.Phe185Val)
| |
1 | g.1232831T= | CA1148811740 | B3GALT6 | c.553T= (p.Phe185=)
| |
1 | g.1232832del | CA2642525747 | B3GALT6 | c.554del (p.Phe185SerfsTer?)
| gnomAD v4 |
1 | g.1232832T>A | CA337826574 | B3GALT6 | c.554T>A (p.Phe185Tyr)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.1232832T>C | CA337826576 | B3GALT6 | c.554T>C (p.Phe185Ser)
| |
1 | g.1232832T>G | CA513381 | B3GALT6 | c.554T>G (p.Phe185Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232832T= | CA1148811750 | B3GALT6 | c.554T= (p.Phe185=)
| |
1 | g.1232833C>A | CA337826585 | B3GALT6 | c.555C>A (p.Phe185Leu)
| gnomAD v3 gnomAD v4 |
1 | g.1232833C= | CA1148811774 | B3GALT6 | c.555C= (p.Phe185=)
| |
1 | g.1232833C>G | CA337826587 | B3GALT6 | c.555C>G (p.Phe185Leu)
| |
1 | g.1232833C>T | CA415761420 | B3GALT6 | c.555C>T (p.Phe185=)
| ClinVar dbSNP gnomAD v4 |
1 | g.1232834T>A | CA337826588 | B3GALT6 | c.556T>A (p.Phe186Ile)
| |
1 | g.1232834T>C | CA337826592 | B3GALT6 | c.556T>C (p.Phe186Leu)
| ClinVar dbSNP gnomAD v4 |
1 | g.1232834T>G | CA337826597 | B3GALT6 | c.556T>G (p.Phe186Val)
| dbSNP |
1 | g.1232834T= | CA1148811795 | B3GALT6 | c.556T= (p.Phe186=)
| |
1 | g.1232835T>A | CA337826613 | B3GALT6 | c.557T>A (p.Phe186Tyr)
| gnomAD v4 |
1 | g.1232835T>C | CA337826616 | B3GALT6 | c.557T>C (p.Phe186Ser)
| |
1 | g.1232835T>G | CA337826605 | B3GALT6 | c.557T>G (p.Phe186Cys)
| |
1 | g.1232836C>A | CA337826620 | B3GALT6 | c.558C>A (p.Phe186Leu)
| gnomAD v4 |
1 | g.1232836C= | CA1148811806 | B3GALT6 | c.558C= (p.Phe186=)
| |
1 | g.1232836C>G | CA337826622 | B3GALT6 | c.558C>G (p.Phe186Leu)
| |
1 | g.1232836C>T | CA513382 | B3GALT6 | c.558C>T (p.Phe186=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232837T>A | CA337826634 | B3GALT6 | c.559T>A (p.Ser187Thr)
| gnomAD v4 |
1 | g.1232837T>C | CA337826639 | B3GALT6 | c.559T>C (p.Ser187Pro)
| gnomAD v4 |
1 | g.1232837T>G | CA337826640 | B3GALT6 | c.559T>G (p.Ser187Ala)
| |
1 | g.1232838C>A | CA337826641 | B3GALT6 | c.560C>A (p.Ser187Ter)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.1232838C= | CA1148811814 | B3GALT6 | c.560C= (p.Ser187=)
| |
1 | g.1232838C>G | CA16755428 | B3GALT6 | c.560C>G (p.Ser187Trp)
| ClinVar dbSNP |
1 | g.1232838C>T | CA337826654 | B3GALT6 | c.560C>T (p.Ser187Leu)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.1232839G>A | CA16755445 | B3GALT6 | c.561G>A (p.Ser187=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232839G>C | CA415761435 | B3GALT6 | c.561G>C (p.Ser187=)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.1232839G= | CA1148811819 | B3GALT6 | c.561G= (p.Ser187=)
| |
1 | g.1232839G>T | CA415761436 | B3GALT6 | c.561G>T (p.Ser187=)
| gnomAD v4 |
1 | g.1232840G>A | CA337826659 | B3GALT6 | c.562G>A (p.Gly188Ser)
| gnomAD v4 |
1 | g.1232840G>C | CA337826661 | B3GALT6 | c.562G>C (p.Gly188Arg)
| |
1 | g.1232840G>T | CA337826667 | B3GALT6 | c.562G>T (p.Gly188Cys)
| gnomAD v4 |
1 | g.1232847_1232852dup | CA2642525787 | B3GALT6 | c.569_574dup (p.Arg191_Val192insGlyArg)
| gnomAD v4 |
1 | g.1232841G>A | CA337826674 | B3GALT6 | c.563G>A (p.Gly188Asp)
| gnomAD v4 |
1 | g.1232841G>C | CA337826672 | B3GALT6 | c.563G>C (p.Gly188Ala)
| |
1 | g.1232841G>T | CA337826671 | B3GALT6 | c.563G>T (p.Gly188Val)
| gnomAD v4 |
1 | g.1232842C>A | CA415761446 | B3GALT6 | c.564C>A (p.Gly188=)
| gnomAD v4 |
1 | g.1232842C>G | CA415761449 | B3GALT6 | c.564C>G (p.Gly188=)
| |
1 | g.1232842C>T | CA415761447 | B3GALT6 | c.564C>T (p.Gly188=)
| gnomAD v4 |
1 | g.1232843C>A | CA337826675 | B3GALT6 | c.565C>A (p.Arg189Ser)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.1232843C= | CA1148811823 | B3GALT6 | c.565C= (p.Arg189=)
| |
1 | g.1232843C>G | CA337826676 | B3GALT6 | c.565C>G (p.Arg189Gly)
| gnomAD v4 |
1 | g.1232843C>T | CA337826678 | B3GALT6 | c.565C>T (p.Arg189Cys)
| gnomAD v4 |
1 | g.1232846_1232869del | CA2642525796 | B3GALT6 | c.568_591del (p.Gly190_Arg197del)
| gnomAD v4 |
1 | g.1232844G>A | CA337826683 | B3GALT6 | c.566G>A (p.Arg189His)
| gnomAD v4 |
1 | g.1232844G>C | CA337826685 | B3GALT6 | c.566G>C (p.Arg189Pro)
| |
1 | g.1232844G= | CA1148811824 | B3GALT6 | c.566G= (p.Arg189=)
| |
1 | g.1232844G>T | CA513383 | B3GALT6 | c.566G>T (p.Arg189Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232845C>A | CA415761463 | B3GALT6 | c.567C>A (p.Arg189=)
| gnomAD v4 |
1 | g.1232845C>G | CA415761464 | B3GALT6 | c.567C>G (p.Arg189=)
| gnomAD v4 |
1 | g.1232845C>T | CA415761465 | B3GALT6 | c.567C>T (p.Arg189=)
| gnomAD v4 |
1 | g.1232846G>A | CA513384 | B3GALT6 | c.568G>A (p.Gly190Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232846G>C | CA337826713 | B3GALT6 | c.568G>C (p.Gly190Arg)
| |
1 | g.1232846G= | CA1148811826 | B3GALT6 | c.568G= (p.Gly190=)
| |
1 | g.1232846G>T | CA337826715 | B3GALT6 | c.568G>T (p.Gly190Cys)
| gnomAD v4 |
1 | g.1232847G>A | CA337826719 | B3GALT6 | c.569G>A (p.Gly190Asp)
| dbSNP gnomAD v4 |
1 | g.1232847G>C | CA337826721 | B3GALT6 | c.569G>C (p.Gly190Ala)
| |
1 | g.1232847G= | CA1148811847 | B3GALT6 | c.569G= (p.Gly190=)
| |
1 | g.1232847G>T | CA337826723 | B3GALT6 | c.569G>T (p.Gly190Val)
| gnomAD v4 |
1 | g.1232848C>A | CA415761469 | B3GALT6 | c.570C>A (p.Gly190=)
| gnomAD v4 |
1 | g.1232848C= | CA1148811873 | B3GALT6 | c.570C= (p.Gly190=)
| |
1 | g.1232848C>G | CA415761470 | B3GALT6 | c.570C>G (p.Gly190=)
| gnomAD v4 |
1 | g.1232848C>T | CA513385 | B3GALT6 | c.570C>T (p.Gly190=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.1232849_1232854dup | CA2642525813 | B3GALT6 | c.571_576dup (p.Val192_Lys193insArgVal)
| dbSNP gnomAD v4 |
1 | g.1232849C>A | CA337826744 | B3GALT6 | c.571C>A (p.Arg191Ser)
| gnomAD v4 |
1 | g.1232849C>G | CA337826752 | B3GALT6 | c.571C>G (p.Arg191Gly)
| |
1 | g.1232849C>T | CA337826737 | B3GALT6 | c.571C>T (p.Arg191Cys)
| gnomAD v4 |
1 | g.1232850G>A | CA337826759 | B3GALT6 | c.572G>A (p.Arg191His)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.1232850G>C | CA337826762 | B3GALT6 | c.572G>C (p.Arg191Pro)
| gnomAD v4 |
1 | g.1232850G= | CA1148811881 | B3GALT6 | c.572G= (p.Arg191=)
| |
1 | g.1232850G>T | CA337826760 | B3GALT6 | c.572G>T (p.Arg191Leu)
| gnomAD v4 |
1 | g.1232851C>A | CA415761481 | B3GALT6 | c.573C>A (p.Arg191=)
| gnomAD v4 |
1 | g.1232851C= | CA1148811883 | B3GALT6 | c.573C= (p.Arg191=)
| |
1 | g.1232851C>G | CA415761482 | B3GALT6 | c.573C>G (p.Arg191=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.1232851C>T | CA415761483 | B3GALT6 | c.573C>T (p.Arg191=)
| gnomAD v4 |
1 | g.1232852G>A | CA337826764 | B3GALT6 | c.574G>A (p.Val192Ile)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.1232852G>C | CA337826766 | B3GALT6 | c.574G>C (p.Val192Leu)
| |
1 | g.1232852G= | CA1148811892 | B3GALT6 | c.574G= (p.Val192=)
| |
1 | g.1232852G>T | CA337826770 | B3GALT6 | c.574G>T (p.Val192Phe)
| gnomAD v4 |
1 | g.1232853T>A | CA337826775 | B3GALT6 | c.575T>A (p.Val192Asp)
| gnomAD v4 |
1 | g.1232853T>C | CA337826778 | B3GALT6 | c.575T>C (p.Val192Ala)
| gnomAD v4 |
1 | g.1232853T>G | CA337826782 | B3GALT6 | c.575T>G (p.Val192Gly)
| ClinVar |
1 | g.1232854C>A | CA415761492 | B3GALT6 | c.576C>A (p.Val192=)
| gnomAD v4 |
1 | g.1232854C= | CA1148811919 | B3GALT6 | c.576C= (p.Val192=)
| |
1 | g.1232854C>G | CA415761495 | B3GALT6 | c.576C>G (p.Val192=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232854C>T | CA513386 | B3GALT6 | c.576C>T (p.Val192=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232855A>C | CA337826799 | B3GALT6 | c.577A>C (p.Lys193Gln)
| gnomAD v4 |
1 | g.1232855A>G | CA337826789 | B3GALT6 | c.577A>G (p.Lys193Glu)
| gnomAD v4 |
1 | g.1232855A>T | CA337826793 | B3GALT6 | c.577A>T (p.Lys193Ter)
| gnomAD v4 |
1 | g.1232856A>C | CA337826804 | B3GALT6 | c.578A>C (p.Lys193Thr)
| gnomAD v4 |
1 | g.1232856A>G | CA337826807 | B3GALT6 | c.578A>G (p.Lys193Arg)
| gnomAD v4 |
1 | g.1232856A>T | CA337826810 | B3GALT6 | c.578A>T (p.Lys193Met)
| |
1 | g.1232856_1232881delinsAGCCGGGGGGGCGCTGGCGCGAGGCC | CA1148811939 | B3GALT6 | c.578_603delinsAGCCGGGGGGGCGCTGGCGCGAGGCC (p.Lys193=)
| |
1 | g.1232857G>A | CA415761503 | B3GALT6 | c.579G>A (p.Lys193=)
| gnomAD v4 |
1 | g.1232857G>C | CA337826816 | B3GALT6 | c.579G>C (p.Lys193Asn)
| gnomAD v4 |
1 | g.1232857G>T | CA337826817 | B3GALT6 | c.579G>T (p.Lys193Asn)
| gnomAD v4 |
1 | g.1232857_1232858delinsGC | CA1148811946 | B3GALT6 | c.579_580delinsGC (p.Lys193=)
| |
1 | g.1232860_1232884del | CA520658954 | B3GALT6 | c.582_606del (p.Gly196AsnfsTer?)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.1232858C>A | CA337826859 | B3GALT6 | c.580C>A (p.Pro194Thr)
| gnomAD v4 |
1 | g.1232858C= | CA1148811990 | B3GALT6 | c.580C= (p.Pro194=)
| |
1 | g.1232858C>G | CA513387 | B3GALT6 | c.580C>G (p.Pro194Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.1232858C>T | CA337826860 | B3GALT6 | c.580C>T (p.Pro194Ser)
| gnomAD v4 |
1 | g.1232859del | CA1148811997 | B3GALT6 | c.581del (p.Pro194ArgfsTer?)
| dbSNP gnomAD v4 |
1 | g.1232859C>A | CA337826862 | B3GALT6 | c.581C>A (p.Pro194Gln)
| gnomAD v4 |
1 | g.1232859C>G | CA337826863 | B3GALT6 | c.581C>G (p.Pro194Arg)
| ClinVar dbSNP gnomAD v4 |
1 | g.1232859C>T | CA337826864 | B3GALT6 | c.581C>T (p.Pro194Leu)
| dbSNP gnomAD v4 |
1 | g.1232859_1232863delinsCGGGG | CA1148812001 | B3GALT6 | c.581_585delinsCGGGG (p.Pro194=)
| |
1 | g.1232860G>A | CA415761509 | B3GALT6 | c.582G>A (p.Pro194=)
| dbSNP gnomAD v4 |
1 | g.1232860G>C | CA16755457 | B3GALT6 | c.582G>C (p.Pro194=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232860G= | CA1144607858 | B3GALT6 | c.582G= (p.Pro194=)
| |
1 | g.1232860G>T | CA513390 | B3GALT6 | c.582G>T (p.Pro194=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.1232860_1232866delinsGGGGGGG | CA1144676708 | B3GALT6 | c.582_588delinsGGGGGGG (p.Pro194=)
| |
1 | g.1232866dup | CA513388 | B3GALT6 | c.588dup (p.Arg197AlafsTer?)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.1232865_1232866dup | CA2642525880 | B3GALT6 | c.587_588dup (p.Arg197GlyfsTer?)
| gnomAD v4 |
1 | g.1232864_1232866dup | CA2742143414 | B3GALT6 | c.586_588dup (p.Gly196_Arg197insGly)
| |
1 | g.1232866del | CA144530 | B3GALT6 | c.588del (p.Arg197AlafsTer?)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.1232863_1232866del | CA513389 | B3GALT6 | c.585_588del (p.Gly196AlafsTer?)
| dbSNP ExAC gnomAD v4 |
1 | g.1232860_1232861insT | CA886927045 | B3GALT6 | c.582_583insT (p.Gly195TrpfsTer?)
| dbSNP |
1 | g.1232861G>A | CA513392 | B3GALT6 | c.583G>A (p.Gly195Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232861G>C | CA513391 | B3GALT6 | c.583G>C (p.Gly195Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232861G= | CA1146119848 | B3GALT6 | c.583G= (p.Gly195=)
| |
1 | g.1232861G>T | CA513393 | B3GALT6 | c.583G>T (p.Gly195Trp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232862G>A | CA337826880 | B3GALT6 | c.584G>A (p.Gly195Glu)
| gnomAD v4 |
1 | g.1232862G>C | CA337826882 | B3GALT6 | c.584G>C (p.Gly195Ala)
| gnomAD v4 |
1 | g.1232862G>T | CA337826878 | B3GALT6 | c.584G>T (p.Gly195Val)
| gnomAD v4 |
1 | g.1232863G>A | CA415761531 | B3GALT6 | c.585G>A (p.Gly195=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.1232863G>C | CA415761529 | B3GALT6 | c.585G>C (p.Gly195=)
| gnomAD v4 |
1 | g.1232863G= | CA1146929128 | B3GALT6 | c.585G= (p.Gly195=)
| |
1 | g.1232863G>T | CA513394 | B3GALT6 | c.585G>T (p.Gly195=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232864G>A | CA337826884 | B3GALT6 | c.586G>A (p.Gly196Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232864G>C | CA337826885 | B3GALT6 | c.586G>C (p.Gly196Arg)
| gnomAD v4 |
1 | g.1232864G= | CA1148812063 | B3GALT6 | c.586G= (p.Gly196=)
| |
1 | g.1232864G>T | CA337826888 | B3GALT6 | c.586G>T (p.Gly196Trp)
| gnomAD v4 |
1 | g.1232865G>A | CA513396 | B3GALT6 | c.587G>A (p.Gly196Glu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.1232865G>C | CA513397 | B3GALT6 | c.587G>C (p.Gly196Ala)
| dbSNP ExAC gnomAD v2 |
1 | g.1232865G= | CA1148812082 | B3GALT6 | c.587G= (p.Gly196=)
| |
1 | g.1232865G>T | CA513395 | B3GALT6 | c.587G>T (p.Gly196Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232866G>A | CA415761536 | B3GALT6 | c.588G>A (p.Gly196=)
| dbSNP gnomAD v4 |
1 | g.1232866G>C | CA513399 | B3GALT6 | c.588G>C (p.Gly196=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232866G= | CA1148812090 | B3GALT6 | c.588G= (p.Gly196=)
| |
1 | g.1232866G>T | CA513400 | B3GALT6 | c.588G>T (p.Gly196=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232867C>A | CA337826903 | B3GALT6 | c.589C>A (p.Arg197Ser)
| gnomAD v4 |
1 | g.1232867C= | CA1148279752 | B3GALT6 | c.589C= (p.Arg197=)
| |
1 | g.1232867C>G | CA337826905 | B3GALT6 | c.589C>G (p.Arg197Gly)
| gnomAD v4 |
1 | g.1232867C>T | CA337826908 | B3GALT6 | c.589C>T (p.Arg197Cys)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.1232867_1232868insCC | CA513398 | B3GALT6 | c.589_590insCC (p.Arg197ProfsTer?)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.1232868G>A | CA337826916 | B3GALT6 | c.590G>A (p.Arg197His)
| gnomAD v4 |
1 | g.1232868G>C | CA337826912 | B3GALT6 | c.590G>C (p.Arg197Pro)
| |
1 | g.1232868G>T | CA337826914 | B3GALT6 | c.590G>T (p.Arg197Leu)
| gnomAD v4 |
1 | g.1232869C>A | CA415761540 | B3GALT6 | c.591C>A (p.Arg197=)
| gnomAD v4 |
1 | g.1232869C>G | CA415761541 | B3GALT6 | c.591C>G (p.Arg197=)
| ClinVar |
1 | g.1232869C>T | CA415761542 | B3GALT6 | c.591C>T (p.Arg197=)
| |
1 | g.1232870T>A | CA337826918 | B3GALT6 | c.592T>A (p.Trp198Arg)
| |
1 | g.1232870T>C | CA337826919 | B3GALT6 | c.592T>C (p.Trp198Arg)
| gnomAD v4 |
1 | g.1232870T>G | CA337826925 | B3GALT6 | c.592T>G (p.Trp198Gly)
| |
1 | g.1232871G>A | CA337826929 | B3GALT6 | c.593G>A (p.Trp198Ter)
| gnomAD v4 |
1 | g.1232871G>C | CA337826931 | B3GALT6 | c.593G>C (p.Trp198Ser)
| |
1 | g.1232871G>T | CA337826932 | B3GALT6 | c.593G>T (p.Trp198Leu)
| gnomAD v4 |
1 | g.1232872G>A | CA337826933 | B3GALT6 | c.594G>A (p.Trp198Ter)
| gnomAD v4 |
1 | g.1232872G>C | CA337826934 | B3GALT6 | c.594G>C (p.Trp198Cys)
| |
1 | g.1232872G>T | CA337826935 | B3GALT6 | c.594G>T (p.Trp198Cys)
| gnomAD v4 |
1 | g.1232875_1232876dup | CA2642525951 | B3GALT6 | c.597_598dup (p.Glu200AlafsTer?)
| gnomAD v4 |
1 | g.1232873C>A | CA337826936 | B3GALT6 | c.595C>A (p.Arg199Ser)
| gnomAD v4 COSMIC |
1 | g.1232873C>G | CA337826937 | B3GALT6 | c.595C>G (p.Arg199Gly)
| |
1 | g.1232873C>T | CA337826938 | B3GALT6 | c.595C>T (p.Arg199Cys)
| gnomAD v4 |
1 | g.1232874G>A | CA513401 | B3GALT6 | c.596G>A (p.Arg199His)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.1232874G>C | CA337826949 | B3GALT6 | c.596G>C (p.Arg199Pro)
| |
1 | g.1232874G= | CA1148812114 | B3GALT6 | c.596G= (p.Arg199=)
| |
1 | g.1232874G>T | CA337826943 | B3GALT6 | c.596G>T (p.Arg199Leu)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.1232875C>A | CA415761556 | B3GALT6 | c.597C>A (p.Arg199=)
| gnomAD v4 |
1 | g.1232875C= | CA1148812120 | B3GALT6 | c.597C= (p.Arg199=)
| |
1 | g.1232875C>G | CA415761558 | B3GALT6 | c.597C>G (p.Arg199=)
| gnomAD v4 |
1 | g.1232875C>T | CA415761559 | B3GALT6 | c.597C>T (p.Arg199=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.1232876G>A | CA337826955 | B3GALT6 | c.598G>A (p.Glu200Lys)
| ClinVar dbSNP gnomAD v4 |
1 | g.1232876G>C | CA337826958 | B3GALT6 | c.598G>C (p.Glu200Gln)
| |
1 | g.1232876G= | CA1148812152 | B3GALT6 | c.598G= (p.Glu200=)
| |
1 | g.1232876G>T | CA337826957 | B3GALT6 | c.598G>T (p.Glu200Ter)
| gnomAD v4 |
1 | g.1232877A>C | CA337826962 | B3GALT6 | c.599A>C (p.Glu200Ala)
| gnomAD v4 |
1 | g.1232877A>G | CA337826969 | B3GALT6 | c.599A>G (p.Glu200Gly)
| gnomAD v4 |
1 | g.1232877A>T | CA337826973 | B3GALT6 | c.599A>T (p.Glu200Val)
| |
1 | g.1232878G>A | CA415761561 | B3GALT6 | c.600G>A (p.Glu200=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.1232878G>C | CA337826974 | B3GALT6 | c.600G>C (p.Glu200Asp)
| |
1 | g.1232878G= | CA1148812168 | B3GALT6 | c.600G= (p.Glu200=)
| |
1 | g.1232878G>T | CA337826975 | B3GALT6 | c.600G>T (p.Glu200Asp)
| gnomAD v4 |
1 | g.1232879dup | CA2642525974 | B3GALT6 | c.601dup (p.Ala201GlyfsTer?)
| gnomAD v4 |
1 | g.1232879G>A | CA337826984 | B3GALT6 | c.601G>A (p.Ala201Thr)
| gnomAD v4 |
1 | g.1232879G>C | CA337826988 | B3GALT6 | c.601G>C (p.Ala201Pro)
| |
1 | g.1232879G>T | CA337826994 | B3GALT6 | c.601G>T (p.Ala201Ser)
| gnomAD v4 |
1 | g.1232880C>A | CA337826995 | B3GALT6 | c.602C>A (p.Ala201Asp)
| gnomAD v4 |
1 | g.1232880C>G | CA337826997 | B3GALT6 | c.602C>G (p.Ala201Gly)
| gnomAD v4 |
1 | g.1232880C>T | CA337826999 | B3GALT6 | c.602C>T (p.Ala201Val)
| gnomAD v4 |
1 | g.1232881C>A | CA415761568 | B3GALT6 | c.603C>A (p.Ala201=)
| gnomAD v4 |
1 | g.1232881C= | CA1148812188 | B3GALT6 | c.603C= (p.Ala201=)
| |
1 | g.1232881C>G | CA513402 | B3GALT6 | c.603C>G (p.Ala201=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232881C>T | CA415761570 | B3GALT6 | c.603C>T (p.Ala201=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.1232882G>A | CA513403 | B3GALT6 | c.604G>A (p.Ala202Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232882G>C | CA337827005 | B3GALT6 | c.604G>C (p.Ala202Pro)
| |
1 | g.1232882G= | CA1144211443 | B3GALT6 | c.604G= (p.Ala202=)
| |
1 | g.1232882G>T | CA337827004 | B3GALT6 | c.604G>T (p.Ala202Ser)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.1232883C>A | CA337827007 | B3GALT6 | c.605C>A (p.Ala202Asp)
| gnomAD v4 |
1 | g.1232883C>G | CA337827008 | B3GALT6 | c.605C>G (p.Ala202Gly)
| gnomAD v4 |
1 | g.1232883C>T | CA337827017 | B3GALT6 | c.605C>T (p.Ala202Val)
| gnomAD v4 |
1 | g.1232884del | CA2573051356 | B3GALT6 | c.606del (p.Trp203GlyfsTer?)
| ClinVar dbSNP |
1 | g.1232884C>A | CA415761575 | B3GALT6 | c.606C>A (p.Ala202=)
| gnomAD v4 |
1 | g.1232884C= | CA1148812210 | B3GALT6 | c.606C= (p.Ala202=)
| |
1 | g.1232884C>G | CA415761576 | B3GALT6 | c.606C>G (p.Ala202=)
| |
1 | g.1232884C>T | CA415761579 | B3GALT6 | c.606C>T (p.Ala202=)
| dbSNP gnomAD v4 |
1 | g.1232885T>A | CA337827025 | B3GALT6 | c.607T>A (p.Trp203Arg)
| |
1 | g.1232885T>C | CA337827027 | B3GALT6 | c.607T>C (p.Trp203Arg)
| gnomAD v4 |
1 | g.1232885T>G | CA337827029 | B3GALT6 | c.607T>G (p.Trp203Gly)
| |
1 | g.1232886G>A | CA337827031 | B3GALT6 | c.608G>A (p.Trp203Ter)
| gnomAD v4 |
1 | g.1232886G>C | CA337827035 | B3GALT6 | c.608G>C (p.Trp203Ser)
| |
1 | g.1232886G= | CA1148812214 | B3GALT6 | c.608G= (p.Trp203=)
| |
1 | g.1232886G>T | CA337827038 | B3GALT6 | c.608G>T (p.Trp203Leu)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.1232887G>A | CA337827041 | B3GALT6 | c.609G>A (p.Trp203Ter)
| gnomAD v4 |
1 | g.1232887G>C | CA337827042 | B3GALT6 | c.609G>C (p.Trp203Cys)
| |
1 | g.1232887G= | CA1148812223 | B3GALT6 | c.609G= (p.Trp203=)
| |
1 | g.1232887G>T | CA337827040 | B3GALT6 | c.609G>T (p.Trp203Cys)
| ClinVar dbSNP gnomAD v4 |
1 | g.1232888C>A | CA337827043 | B3GALT6 | c.610C>A (p.Gln204Lys)
| gnomAD v4 |
1 | g.1232888C>G | CA337827044 | B3GALT6 | c.610C>G (p.Gln204Glu)
| |
1 | g.1232888C>T | CA337827045 | B3GALT6 | c.610C>T (p.Gln204Ter)
| gnomAD v4 |
1 | g.1232889_1232899del | CA2642526031 | B3GALT6 | c.611_621del (p.Gln204LeufsTer?)
| gnomAD v4 |
1 | g.1232889A= | CA1148812235 | B3GALT6 | c.611A= (p.Gln204=)
| |
1 | g.1232889A>C | CA513404 | B3GALT6 | c.611A>C (p.Gln204Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.1232889A>G | CA337827050 | B3GALT6 | c.611A>G (p.Gln204Arg)
| dbSNP gnomAD v4 |
1 | g.1232889A>T | CA337827053 | B3GALT6 | c.611A>T (p.Gln204Leu)
| |
1 | g.1232890A= | CA1148812248 | B3GALT6 | c.612A= (p.Gln204=)
| |
1 | g.1232890A>C | CA337827056 | B3GALT6 | c.612A>C (p.Gln204His)
| gnomAD v4 |
1 | g.1232890A>G | CA415761583 | B3GALT6 | c.612A>G (p.Gln204=)
| dbSNP gnomAD v4 |
1 | g.1232890A>T | CA337827059 | B3GALT6 | c.612A>T (p.Gln204His)
| |
1 | g.1232890_1232892delinsACT | CA1148812243 | B3GALT6 | c.612_614delinsACT (p.Gln204=)
| |
1 | g.1232891C>A | CA337827061 | B3GALT6 | c.613C>A (p.Leu205Ile)
| gnomAD v4 |
1 | g.1232891C= | CA1148812306 | B3GALT6 | c.613C= (p.Leu205=)
| |
1 | g.1232891C>G | CA337827063 | B3GALT6 | c.613C>G (p.Leu205Val)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.1232891C>T | CA337827070 | B3GALT6 | c.613C>T (p.Leu205Phe)
| dbSNP gnomAD v4 |
1 | g.1232893_1232894del | CA520658956 | B3GALT6 | c.615_616del (p.Cys206ArgfsTer?)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.1232892T>A | CA337827071 | B3GALT6 | c.614T>A (p.Leu205His)
| |
1 | g.1232892T>C | CA337827072 | B3GALT6 | c.614T>C (p.Leu205Pro)
| gnomAD v4 |
1 | g.1232892T>G | CA337827073 | B3GALT6 | c.614T>G (p.Leu205Arg)
| |
1 | g.1232893C>A | CA415761586 | B3GALT6 | c.615C>A (p.Leu205=)
| gnomAD v4 |
1 | g.1232893C= | CA1148812313 | B3GALT6 | c.615C= (p.Leu205=)
| |
1 | g.1232893C>G | CA513405 | B3GALT6 | c.615C>G (p.Leu205=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.1232893C>T | CA415761587 | B3GALT6 | c.615C>T (p.Leu205=)
| gnomAD v4 |