1 | g.1233096del | CA2642526914 | B3GALT6 | c.818del (p.Asn273ThrfsTer5)
| gnomAD v4 |
1 | g.1233096A= | CA1148813809 | B3GALT6 | c.818A= (p.Asn273=)
| |
1 | g.1233096A>C | CA337829800 | B3GALT6 | c.818A>C (p.Asn273Thr)
| |
1 | g.1233096A>G | CA513445 | B3GALT6 | c.818A>G (p.Asn273Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1233096A>T | CA337829792 | B3GALT6 | c.818A>T (p.Asn273Ile)
| ClinVar gnomAD v4 |
1 | g.1233097C>A | CA337829803 | B3GALT6 | c.819C>A (p.Asn273Lys)
| gnomAD v4 |
1 | g.1233097C>G | CA337829804 | B3GALT6 | c.819C>G (p.Asn273Lys)
| |
1 | g.1233097C>T | CA415761484 | B3GALT6 | c.819C>T (p.Asn273=)
| gnomAD v4 |
1 | g.1233098C>A | CA337829805 | B3GALT6 | c.820C>A (p.Gln274Lys)
| gnomAD v4 |
1 | g.1233098C>G | CA337829806 | B3GALT6 | c.820C>G (p.Gln274Glu)
| gnomAD v4 |
1 | g.1233098C>T | CA337829807 | B3GALT6 | c.820C>T (p.Gln274Ter)
| gnomAD v4 |
1 | g.1233099A= | CA1148813823 | B3GALT6 | c.821A= (p.Gln274=)
| |
1 | g.1233099A>C | CA337829809 | B3GALT6 | c.821A>C (p.Gln274Pro)
| |
1 | g.1233099A>G | CA337829815 | B3GALT6 | c.821A>G (p.Gln274Arg)
| dbSNP gnomAD v4 |
1 | g.1233099A>T | CA337829816 | B3GALT6 | c.821A>T (p.Gln274Leu)
| dbSNP |
1 | g.1233100G>A | CA415761496 | B3GALT6 | c.822G>A (p.Gln274=)
| dbSNP gnomAD v4 |
1 | g.1233100G>C | CA337829821 | B3GALT6 | c.822G>C (p.Gln274His)
| gnomAD v4 |
1 | g.1233100G= | CA1148813830 | B3GALT6 | c.822G= (p.Gln274=)
| |
1 | g.1233100G>T | CA337829823 | B3GALT6 | c.822G>T (p.Gln274His)
| gnomAD v4 |
1 | g.1233101T>A | CA337829830 | B3GALT6 | c.823T>A (p.Tyr275Asn)
| dbSNP gnomAD v4 |
1 | g.1233101T>C | CA337829835 | B3GALT6 | c.823T>C (p.Tyr275His)
| gnomAD v4 |
1 | g.1233101T>G | CA337829836 | B3GALT6 | c.823T>G (p.Tyr275Asp)
| |
1 | g.1233101T= | CA1148813833 | B3GALT6 | c.823T= (p.Tyr275=)
| |
1 | g.1233102A>C | CA337829839 | B3GALT6 | c.824A>C (p.Tyr275Ser)
| |
1 | g.1233102A>G | CA337829838 | B3GALT6 | c.824A>G (p.Tyr275Cys)
| gnomAD v4 |
1 | g.1233102A>T | CA337829837 | B3GALT6 | c.824A>T (p.Tyr275Phe)
| |
1 | g.1233103C>A | CA337829845 | B3GALT6 | c.825C>A (p.Tyr275Ter)
| gnomAD v4 |
1 | g.1233103C= | CA1148813840 | B3GALT6 | c.825C= (p.Tyr275=)
| |
1 | g.1233103C>G | CA337829841 | B3GALT6 | c.825C>G (p.Tyr275Ter)
| |
1 | g.1233103C>T | CA513446 | B3GALT6 | c.825C>T (p.Tyr275=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1233104C>A | CA337829848 | B3GALT6 | c.826C>A (p.Leu276Met)
| gnomAD v4 |
1 | g.1233104C= | CA1148813853 | B3GALT6 | c.826C= (p.Leu276=)
| |
1 | g.1233104C>G | CA337829849 | B3GALT6 | c.826C>G (p.Leu276Val)
| gnomAD v4 |
1 | g.1233104C>T | CA415761508 | B3GALT6 | c.826C>T (p.Leu276=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.1233105T>A | CA337829860 | B3GALT6 | c.827T>A (p.Leu276Gln)
| gnomAD v4 |
1 | g.1233105T>C | CA337829862 | B3GALT6 | c.827T>C (p.Leu276Pro)
| gnomAD v4 |
1 | g.1233105T>G | CA337829863 | B3GALT6 | c.827T>G (p.Leu276Arg)
| |
1 | g.1233106G>A | CA415761510 | B3GALT6 | c.828G>A (p.Leu276=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1233106G>C | CA415761511 | B3GALT6 | c.828G>C (p.Leu276=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1233106G= | CA1148813863 | B3GALT6 | c.828G= (p.Leu276=)
| |
1 | g.1233106G>T | CA415761513 | B3GALT6 | c.828G>T (p.Leu276=)
| gnomAD v4 |
1 | g.1233107G>A | CA337829864 | B3GALT6 | c.829G>A (p.Val277Met)
| ClinVar gnomAD v4 |
1 | g.1233107G>C | CA337829865 | B3GALT6 | c.829G>C (p.Val277Leu)
| |
1 | g.1233107G= | CA1148813884 | B3GALT6 | c.829G= (p.Val277=)
| |
1 | g.1233107G>T | CA337829866 | B3GALT6 | c.829G>T (p.Val277Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1233108T>A | CA337829867 | B3GALT6 | c.830T>A (p.Val277Glu)
| gnomAD v4 |
1 | g.1233108T>C | CA337829868 | B3GALT6 | c.830T>C (p.Val277Ala)
| gnomAD v4 |
1 | g.1233108T>G | CA337829869 | B3GALT6 | c.830T>G (p.Val277Gly)
| dbSNP |
1 | g.1233108T= | CA1148813897 | B3GALT6 | c.830T= (p.Val277=)
| |
1 | g.1233109G>A | CA415761522 | B3GALT6 | c.831G>A (p.Val277=)
| gnomAD v4 |
1 | g.1233109G>C | CA415761526 | B3GALT6 | c.831G>C (p.Val277=)
| |
1 | g.1233109G>T | CA415761527 | B3GALT6 | c.831G>T (p.Val277=)
| gnomAD v4 |
1 | g.1233110A= | CA1148813906 | B3GALT6 | c.832A= (p.Thr278=)
| |
1 | g.1233110A>C | CA337829872 | B3GALT6 | c.832A>C (p.Thr278Pro)
| |
1 | g.1233110A>G | CA337829870 | B3GALT6 | c.832A>G (p.Thr278Ala)
| gnomAD v4 |
1 | g.1233110A>T | CA337829871 | B3GALT6 | c.832A>T (p.Thr278Ser)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.1233111C>A | CA337829873 | B3GALT6 | c.833C>A (p.Thr278Lys)
| gnomAD v4 |
1 | g.1233111C= | CA1148813914 | B3GALT6 | c.833C= (p.Thr278=)
| |
1 | g.1233111C>G | CA337829874 | B3GALT6 | c.833C>G (p.Thr278Arg)
| gnomAD v4 |
1 | g.1233111C>T | CA513447 | B3GALT6 | c.833C>T (p.Thr278Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1233112G>A | CA513448 | B3GALT6 | c.834G>A (p.Thr278=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1233112G>C | CA415761535 | B3GALT6 | c.834G>C (p.Thr278=)
| |
1 | g.1233112G= | CA1143573242 | B3GALT6 | c.834G= (p.Thr278=)
| |
1 | g.1233112G>T | CA415761534 | B3GALT6 | c.834G>T (p.Thr278=)
| gnomAD v4 |
1 | g.1233113C>A | CA337829875 | B3GALT6 | c.835C>A (p.His279Asn)
| gnomAD v4 |
1 | g.1233113C>G | CA337829876 | B3GALT6 | c.835C>G (p.His279Asp)
| |
1 | g.1233113C>T | CA337829877 | B3GALT6 | c.835C>T (p.His279Tyr)
| |
1 | g.1233114A= | CA1148813936 | B3GALT6 | c.836A= (p.His279=)
| |
1 | g.1233114A>C | CA337829878 | B3GALT6 | c.836A>C (p.His279Pro)
| |
1 | g.1233114A>G | CA16755671 | B3GALT6 | c.836A>G (p.His279Arg)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.1233114A>T | CA337829890 | B3GALT6 | c.836A>T (p.His279Leu)
| gnomAD v4 |
1 | g.1233115C>A | CA16755674 | B3GALT6 | c.837C>A (p.His279Gln)
| dbSNP gnomAD v4 |
1 | g.1233115C= | CA1148813946 | B3GALT6 | c.837C= (p.His279=)
| |
1 | g.1233115C>G | CA337829894 | B3GALT6 | c.837C>G (p.His279Gln)
| |
1 | g.1233115C>T | CA415761538 | B3GALT6 | c.837C>T (p.His279=)
| gnomAD v4 |
1 | g.1233116A>C | CA337829897 | B3GALT6 | c.838A>C (p.Lys280Gln)
| |
1 | g.1233116A>G | CA337829899 | B3GALT6 | c.838A>G (p.Lys280Glu)
| |
1 | g.1233116A>T | CA337829895 | B3GALT6 | c.838A>T (p.Lys280Ter)
| gnomAD v4 |
1 | g.1233117A= | CA1148813961 | B3GALT6 | c.839A= (p.Lys280=)
| |
1 | g.1233117A>C | CA337829905 | B3GALT6 | c.839A>C (p.Lys280Thr)
| ClinVar dbSNP gnomAD v4 |
1 | g.1233117A>G | CA337829909 | B3GALT6 | c.839A>G (p.Lys280Arg)
| gnomAD v4 |
1 | g.1233117A>T | CA337829910 | B3GALT6 | c.839A>T (p.Lys280Met)
| gnomAD v4 |
1 | g.1233118G>A | CA415761545 | B3GALT6 | c.840G>A (p.Lys280=)
| gnomAD v4 |
1 | g.1233118G>C | CA337829914 | B3GALT6 | c.840G>C (p.Lys280Asn)
| |
1 | g.1233118G>T | CA337829922 | B3GALT6 | c.840G>T (p.Lys280Asn)
| gnomAD v4 |
1 | g.1233119C>A | CA337829925 | B3GALT6 | c.841C>A (p.Gln281Lys)
| gnomAD v4 |
1 | g.1233119C>G | CA337829927 | B3GALT6 | c.841C>G (p.Gln281Glu)
| gnomAD v4 |
1 | g.1233119C>T | CA337829930 | B3GALT6 | c.841C>T (p.Gln281Ter)
| gnomAD v4 |
1 | g.1233120A= | CA1148813976 | B3GALT6 | c.842A= (p.Gln281=)
| |
1 | g.1233120A>C | CA337829932 | B3GALT6 | c.842A>C (p.Gln281Pro)
| |
1 | g.1233120A>G | CA337829935 | B3GALT6 | c.842A>G (p.Gln281Arg)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.1233120A>T | CA337829934 | B3GALT6 | c.842A>T (p.Gln281Leu)
| gnomAD v4 |
1 | g.1233120_1233121insCAA | CA2642526983 | B3GALT6 | c.842_843insCAA (p.Gln281delinsHisLys)
| gnomAD v4 |
1 | g.1233121G>A | CA415761557 | B3GALT6 | c.843G>A (p.Gln281=)
| dbSNP gnomAD v4 |
1 | g.1233121G>C | CA337829936 | B3GALT6 | c.843G>C (p.Gln281His)
| gnomAD v4 |
1 | g.1233121G= | CA1148813996 | B3GALT6 | c.843G= (p.Gln281=)
| |
1 | g.1233121G>T | CA337829937 | B3GALT6 | c.843G>T (p.Gln281His)
| gnomAD v4 |
1 | g.1233122A>C | CA337829955 | B3GALT6 | c.844A>C (p.Ser282Arg)
| |
1 | g.1233122A>G | CA337829956 | B3GALT6 | c.844A>G (p.Ser282Gly)
| gnomAD v4 COSMIC |
1 | g.1233122A>T | CA337829961 | B3GALT6 | c.844A>T (p.Ser282Cys)
| gnomAD v4 |
1 | g.1233123G>A | CA337829964 | B3GALT6 | c.845G>A (p.Ser282Asn)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.1233123G>C | CA337829968 | B3GALT6 | c.845G>C (p.Ser282Thr)
| |
1 | g.1233123G= | CA1148814006 | B3GALT6 | c.845G= (p.Ser282=)
| |
1 | g.1233123G>T | CA337829967 | B3GALT6 | c.845G>T (p.Ser282Ile)
| gnomAD v4 |
1 | g.1233123_1233124delinsTA | CA2586963993 | B3GALT6 | c.845_846delinsTA (p.Ser282Ile)
| |
1 | g.1233124C>A | CA16755677 | B3GALT6 | c.846C>A (p.Ser282Arg)
| dbSNP gnomAD v4 |
1 | g.1233124C= | CA1148814019 | B3GALT6 | c.846C= (p.Ser282=)
| |
1 | g.1233124C>G | CA337829969 | B3GALT6 | c.846C>G (p.Ser282Arg)
| |
1 | g.1233124C>T | CA513449 | B3GALT6 | c.846C>T (p.Ser282=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.1233125C>A | CA337829970 | B3GALT6 | c.847C>A (p.Leu283Met)
| gnomAD v4 |
1 | g.1233125C= | CA1145206684 | B3GALT6 | c.847C= (p.Leu283=)
| |
1 | g.1233125C>G | CA337829971 | B3GALT6 | c.847C>G (p.Leu283Val)
| |
1 | g.1233125C>T | CA16755680 | B3GALT6 | c.847C>T (p.Leu283=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1233126T>A | CA337829973 | B3GALT6 | c.848T>A (p.Leu283Gln)
| gnomAD v4 |
1 | g.1233126T>C | CA337829974 | B3GALT6 | c.848T>C (p.Leu283Pro)
| gnomAD v4 |
1 | g.1233126T>G | CA337829976 | B3GALT6 | c.848T>G (p.Leu283Arg)
| |
1 | g.1233127G>A | CA415761567 | B3GALT6 | c.849G>A (p.Leu283=)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.1233127G>C | CA415761565 | B3GALT6 | c.849G>C (p.Leu283=)
| dbSNP gnomAD v4 |
1 | g.1233127G= | CA1148814032 | B3GALT6 | c.849G= (p.Leu283=)
| |
1 | g.1233127G>T | CA415761563 | B3GALT6 | c.849G>T (p.Leu283=)
| gnomAD v4 |
1 | g.1233128G>A | CA337829978 | B3GALT6 | c.850G>A (p.Glu284Lys)
| gnomAD v4 |
1 | g.1233128G>C | CA337829980 | B3GALT6 | c.850G>C (p.Glu284Gln)
| dbSNP |
1 | g.1233128G= | CA1148814034 | B3GALT6 | c.850G= (p.Glu284=)
| |
1 | g.1233128G>T | CA337829982 | B3GALT6 | c.850G>T (p.Glu284Ter)
| gnomAD v4 |
1 | g.1233129A>C | CA337829984 | B3GALT6 | c.851A>C (p.Glu284Ala)
| |
1 | g.1233129A>G | CA337829987 | B3GALT6 | c.851A>G (p.Glu284Gly)
| gnomAD v4 |
1 | g.1233129A>T | CA337829986 | B3GALT6 | c.851A>T (p.Glu284Val)
| gnomAD v4 |
1 | g.1233130G>A | CA415761580 | B3GALT6 | c.852G>A (p.Glu284=)
| |
1 | g.1233130G>C | CA337829997 | B3GALT6 | c.852G>C (p.Glu284Asp)
| |
1 | g.1233130G>T | CA337829999 | B3GALT6 | c.852G>T (p.Glu284Asp)
| gnomAD v4 |
1 | g.1233131G>A | CA513450 | B3GALT6 | c.853G>A (p.Asp285Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1233131G>C | CA337830007 | B3GALT6 | c.853G>C (p.Asp285His)
| |
1 | g.1233131G= | CA1143489325 | B3GALT6 | c.853G= (p.Asp285=)
| |
1 | g.1233131G>T | CA337830008 | B3GALT6 | c.853G>T (p.Asp285Tyr)
| gnomAD v4 |
1 | g.1233132A>C | CA337830010 | B3GALT6 | c.854A>C (p.Asp285Ala)
| |
1 | g.1233132A>G | CA337830012 | B3GALT6 | c.854A>G (p.Asp285Gly)
| gnomAD v4 |
1 | g.1233132A>T | CA337830013 | B3GALT6 | c.854A>T (p.Asp285Val)
| gnomAD v4 |
1 | g.1233133C>A | CA337830015 | B3GALT6 | c.855C>A (p.Asp285Glu)
| gnomAD v4 |
1 | g.1233133C>G | CA337830017 | B3GALT6 | c.855C>G (p.Asp285Glu)
| gnomAD v4 |
1 | g.1233133C>T | CA415761588 | B3GALT6 | c.855C>T (p.Asp285=)
| gnomAD v4 |
1 | g.1233134A>C | CA337830021 | B3GALT6 | c.856A>C (p.Met286Leu)
| |
1 | g.1233134A>G | CA337830023 | B3GALT6 | c.856A>G (p.Met286Val)
| ClinVar dbSNP gnomAD v4 |
1 | g.1233134A>T | CA337830024 | B3GALT6 | c.856A>T (p.Met286Leu)
| gnomAD v4 |
1 | g.1233135T>A | CA337830029 | B3GALT6 | c.857T>A (p.Met286Lys)
| gnomAD v4 |
1 | g.1233135T>C | CA513451 | B3GALT6 | c.857T>C (p.Met286Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1233135T>G | CA337830027 | B3GALT6 | c.857T>G (p.Met286Arg)
| |
1 | g.1233135T= | CA1147411124 | B3GALT6 | c.857T= (p.Met286=)
| |
1 | g.1233136G>A | CA337830032 | B3GALT6 | c.858G>A (p.Met286Ile)
| gnomAD v4 |
1 | g.1233136G>C | CA337830033 | B3GALT6 | c.858G>C (p.Met286Ile)
| |
1 | g.1233136G>T | CA337830034 | B3GALT6 | c.858G>T (p.Met286Ile)
| gnomAD v4 |
1 | g.1233137C>A | CA337830035 | B3GALT6 | c.859C>A (p.Leu287Met)
| gnomAD v4 |
1 | g.1233137C= | CA1148814071 | B3GALT6 | c.859C= (p.Leu287=)
| |
1 | g.1233137C>G | CA337830036 | B3GALT6 | c.859C>G (p.Leu287Val)
| gnomAD v4 |
1 | g.1233137C>T | CA513452 | B3GALT6 | c.859C>T (p.Leu287=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1233138T>A | CA337830041 | B3GALT6 | c.860T>A (p.Leu287Gln)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1233138T>C | CA337830047 | B3GALT6 | c.860T>C (p.Leu287Pro)
| gnomAD v4 COSMIC |
1 | g.1233138T>G | CA337830048 | B3GALT6 | c.860T>G (p.Leu287Arg)
| |
1 | g.1233138T= | CA1148814130 | B3GALT6 | c.860T= (p.Leu287=)
| |
1 | g.1233139G>A | CA415761594 | B3GALT6 | c.861G>A (p.Leu287=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1233139G>C | CA415761595 | B3GALT6 | c.861G>C (p.Leu287=)
| |
1 | g.1233139G= | CA1148814137 | B3GALT6 | c.861G= (p.Leu287=)
| |
1 | g.1233139G>T | CA415761596 | B3GALT6 | c.861G>T (p.Leu287=)
| gnomAD v4 |
1 | g.1233140G>A | CA337830050 | B3GALT6 | c.862G>A (p.Glu288Lys)
| gnomAD v4 |
1 | g.1233140G>C | CA337830051 | B3GALT6 | c.862G>C (p.Glu288Gln)
| |
1 | g.1233140G>T | CA337830053 | B3GALT6 | c.862G>T (p.Glu288Ter)
| gnomAD v4 |
1 | g.1233141A>C | CA337830055 | B3GALT6 | c.863A>C (p.Glu288Ala)
| |
1 | g.1233141A>G | CA337830060 | B3GALT6 | c.863A>G (p.Glu288Gly)
| gnomAD v4 |
1 | g.1233141A>T | CA337830057 | B3GALT6 | c.863A>T (p.Glu288Val)
| |
1 | g.1233142G>A | CA415761599 | B3GALT6 | c.864G>A (p.Glu288=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.1233142G>C | CA337830073 | B3GALT6 | c.864G>C (p.Glu288Asp)
| |
1 | g.1233142G= | CA1148814147 | B3GALT6 | c.864G= (p.Glu288=)
| |
1 | g.1233142G>T | CA337830076 | B3GALT6 | c.864G>T (p.Glu288Asp)
| gnomAD v4 |
1 | g.1233143A>C | CA337830080 | B3GALT6 | c.865A>C (p.Lys289Gln)
| |
1 | g.1233143A>G | CA337830088 | B3GALT6 | c.865A>G (p.Lys289Glu)
| |
1 | g.1233143A>T | CA337830090 | B3GALT6 | c.865A>T (p.Lys289Ter)
| |
1 | g.1233144A>C | CA337830091 | B3GALT6 | c.866A>C (p.Lys289Thr)
| |
1 | g.1233144A>G | CA337830093 | B3GALT6 | c.866A>G (p.Lys289Arg)
| gnomAD v4 |
1 | g.1233144A>T | CA337830094 | B3GALT6 | c.866A>T (p.Lys289Met)
| |
1 | g.1233145G>A | CA415761603 | B3GALT6 | c.867G>A (p.Lys289=)
| gnomAD v4 |
1 | g.1233145G>C | CA337830100 | B3GALT6 | c.867G>C (p.Lys289Asn)
| |
1 | g.1233145G>T | CA337830103 | B3GALT6 | c.867G>T (p.Lys289Asn)
| gnomAD v4 |
1 | g.1233146del | CA2574213877 | B3GALT6 | c.868del (p.His290ThrfsTer?)
| gnomAD v4 |
1 | g.1233146C>A | CA337830109 | B3GALT6 | c.868C>A (p.His290Asn)
| gnomAD v4 |
1 | g.1233146C= | CA1148814151 | B3GALT6 | c.868C= (p.His290=)
| |
1 | g.1233146C>G | CA337830111 | B3GALT6 | c.868C>G (p.His290Asp)
| |
1 | g.1233146C>T | CA513453 | B3GALT6 | c.868C>T (p.His290Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1233147A>C | CA337830130 | B3GALT6 | c.869A>C (p.His290Pro)
| |
1 | g.1233147A>G | CA337830125 | B3GALT6 | c.869A>G (p.His290Arg)
| |
1 | g.1233147A>T | CA337830126 | B3GALT6 | c.869A>T (p.His290Leu)
| |
1 | g.1233148C>A | CA337830131 | B3GALT6 | c.870C>A (p.His290Gln)
| gnomAD v4 |
1 | g.1233148C= | CA1148814189 | B3GALT6 | c.870C= (p.His290=)
| |
1 | g.1233148C>G | CA337830132 | B3GALT6 | c.870C>G (p.His290Gln)
| gnomAD v4 |
1 | g.1233148C>T | CA415761609 | B3GALT6 | c.870C>T (p.His290=)
| dbSNP gnomAD v4 |
1 | g.1233149G>A | CA337830135 | B3GALT6 | c.871G>A (p.Ala291Thr)
| gnomAD v4 |
1 | g.1233149G>C | CA337830137 | B3GALT6 | c.871G>C (p.Ala291Pro)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.1233149G= | CA1148814191 | B3GALT6 | c.871G= (p.Ala291=)
| |
1 | g.1233149G>T | CA337830138 | B3GALT6 | c.871G>T (p.Ala291Ser)
| gnomAD v4 |
1 | g.1233150C>A | CA337830139 | B3GALT6 | c.872C>A (p.Ala291Glu)
| gnomAD v4 |
1 | g.1233150C= | CA1148814199 | B3GALT6 | c.872C= (p.Ala291=)
| |
1 | g.1233150C>G | CA337830141 | B3GALT6 | c.872C>G (p.Ala291Gly)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1233150C>T | CA337830144 | B3GALT6 | c.872C>T (p.Ala291Val)
| gnomAD v4 |
1 | g.1233151G>A | CA415761620 | B3GALT6 | c.873G>A (p.Ala291=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.1233151G>C | CA415761618 | B3GALT6 | c.873G>C (p.Ala291=)
| |
1 | g.1233151G= | CA1148814210 | B3GALT6 | c.873G= (p.Ala291=)
| |
1 | g.1233151G>T | CA415761614 | B3GALT6 | c.873G>T (p.Ala291=)
| gnomAD v4 |
1 | g.1233152A= | CA1148814218 | B3GALT6 | c.874A= (p.Thr292=)
| |
1 | g.1233152A>C | CA337830147 | B3GALT6 | c.874A>C (p.Thr292Pro)
| |
1 | g.1233152A>G | CA337830150 | B3GALT6 | c.874A>G (p.Thr292Ala)
| |
1 | g.1233152A>T | CA337830153 | B3GALT6 | c.874A>T (p.Thr292Ser)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.1233153C>A | CA337830159 | B3GALT6 | c.875C>A (p.Thr292Lys)
| gnomAD v4 |
1 | g.1233153C>G | CA337830170 | B3GALT6 | c.875C>G (p.Thr292Arg)
| |
1 | g.1233153C>T | CA337830156 | B3GALT6 | c.875C>T (p.Thr292Met)
| gnomAD v4 |
1 | g.1233154G>A | CA415760935 | B3GALT6 | c.876G>A (p.Thr292=)
| gnomAD v4 |
1 | g.1233154G>C | CA415760936 | B3GALT6 | c.876G>C (p.Thr292=)
| |
1 | g.1233154G>T | CA415760938 | B3GALT6 | c.876G>T (p.Thr292=)
| gnomAD v4 |
1 | g.1233154dup | CA2642527116 | B3GALT6 | c.876dup (p.Leu293AlafsTer?)
| gnomAD v4 |
1 | g.1233155C>A | CA337830172 | B3GALT6 | c.877C>A (p.Leu293Met)
| gnomAD v4 |
1 | g.1233155C= | CA1148814232 | B3GALT6 | c.877C= (p.Leu293=)
| |
1 | g.1233155C>G | CA337830175 | B3GALT6 | c.877C>G (p.Leu293Val)
| gnomAD v4 |
1 | g.1233155C>T | CA415760942 | B3GALT6 | c.877C>T (p.Leu293=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1233156T>A | CA337830176 | B3GALT6 | c.878T>A (p.Leu293Gln)
| |
1 | g.1233156T>C | CA337830177 | B3GALT6 | c.878T>C (p.Leu293Pro)
| gnomAD v4 |
1 | g.1233156T>G | CA337830178 | B3GALT6 | c.878T>G (p.Leu293Arg)
| |
1 | g.1233157G>A | CA415760944 | B3GALT6 | c.879G>A (p.Leu293=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.1233157G>C | CA415760945 | B3GALT6 | c.879G>C (p.Leu293=)
| |
1 | g.1233157G= | CA1148814239 | B3GALT6 | c.879G= (p.Leu293=)
| |
1 | g.1233157G>T | CA415760946 | B3GALT6 | c.879G>T (p.Leu293=)
| gnomAD v4 |
1 | g.1233158G>A | CA337830182 | B3GALT6 | c.880G>A (p.Ala294Thr)
| gnomAD v4 |
1 | g.1233158G>C | CA337830180 | B3GALT6 | c.880G>C (p.Ala294Pro)
| |
1 | g.1233158G>T | CA337830179 | B3GALT6 | c.880G>T (p.Ala294Ser)
| gnomAD v4 |
1 | g.1233159C>A | CA337830184 | B3GALT6 | c.881C>A (p.Ala294Glu)
| gnomAD v4 |
1 | g.1233159C= | CA1148814244 | B3GALT6 | c.881C= (p.Ala294=)
| |
1 | g.1233159C>G | CA337830189 | B3GALT6 | c.881C>G (p.Ala294Gly)
| |
1 | g.1233159C>T | CA337830198 | B3GALT6 | c.881C>T (p.Ala294Val)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1233159_1233180delinsCGCGCGAGGGCCGCCTGTGCAA | CA1148814246 | B3GALT6 | c.881_902delinsCGCGCGAGGGCCGCCTGTGCAA (p.Ala294=)
| |
1 | g.1233160G>A | CA415760956 | B3GALT6 | c.882G>A (p.Ala294=)
| gnomAD v4 |
1 | g.1233160G>C | CA415760957 | B3GALT6 | c.882G>C (p.Ala294=)
| |
1 | g.1233160G>T | CA415760958 | B3GALT6 | c.882G>T (p.Ala294=)
| gnomAD v4 |
1 | g.1233168_1233188del | CA520664621 | B3GALT6 | c.890_910del (p.Gly297_Glu303del)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.1233161C>A | CA337830206 | B3GALT6 | c.883C>A (p.Arg295Ser)
| gnomAD v4 |
1 | g.1233161C= | CA1148814258 | B3GALT6 | c.883C= (p.Arg295=)
| |
1 | g.1233161C>G | CA337830208 | B3GALT6 | c.883C>G (p.Arg295Gly)
| |
1 | g.1233161C>T | CA337830216 | B3GALT6 | c.883C>T (p.Arg295Cys)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1233162G>A | CA337830220 | B3GALT6 | c.884G>A (p.Arg295His)
| dbSNP gnomAD v4 |
1 | g.1233162G>C | CA337830224 | B3GALT6 | c.884G>C (p.Arg295Pro)
| |
1 | g.1233162G= | CA1148814263 | B3GALT6 | c.884G= (p.Arg295=)
| |
1 | g.1233162G>T | CA513454 | B3GALT6 | c.884G>T (p.Arg295Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.1233163C>A | CA415760970 | B3GALT6 | c.885C>A (p.Arg295=)
| gnomAD v4 |
1 | g.1233163C= | CA1148814272 | B3GALT6 | c.885C= (p.Arg295=)
| |
1 | g.1233163C>G | CA415760972 | B3GALT6 | c.885C>G (p.Arg295=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.1233163C>T | CA415760973 | B3GALT6 | c.885C>T (p.Arg295=)
| dbSNP gnomAD v4 |
1 | g.1233164G>A | CA337830228 | B3GALT6 | c.886G>A (p.Glu296Lys)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1233164G>C | CA337830231 | B3GALT6 | c.886G>C (p.Glu296Gln)
| dbSNP gnomAD v4 |
1 | g.1233164G= | CA1148814275 | B3GALT6 | c.886G= (p.Glu296=)
| |
1 | g.1233164G>T | CA337830236 | B3GALT6 | c.886G>T (p.Glu296Ter)
| gnomAD v4 |
1 | g.1233165A= | CA1148814295 | B3GALT6 | c.887A= (p.Glu296=)
| |
1 | g.1233165A>C | CA337830239 | B3GALT6 | c.887A>C (p.Glu296Ala)
| |
1 | g.1233165A>G | CA337830243 | B3GALT6 | c.887A>G (p.Glu296Gly)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.1233165A>T | CA337830246 | B3GALT6 | c.887A>T (p.Glu296Val)
| gnomAD v4 |
1 | g.1233166G>A | CA415760981 | B3GALT6 | c.888G>A (p.Glu296=)
| gnomAD v4 |
1 | g.1233166G>C | CA337830248 | B3GALT6 | c.888G>C (p.Glu296Asp)
| gnomAD v4 |
1 | g.1233166G>T | CA337830250 | B3GALT6 | c.888G>T (p.Glu296Asp)
| gnomAD v4 |
1 | g.1233167G>A | CA337830251 | B3GALT6 | c.889G>A (p.Gly297Ser)
| dbSNP gnomAD v4 |
1 | g.1233167G>C | CA337830253 | B3GALT6 | c.889G>C (p.Gly297Arg)
| |
1 | g.1233167G= | CA1148814305 | B3GALT6 | c.889G= (p.Gly297=)
| |
1 | g.1233167G>T | CA337830255 | B3GALT6 | c.889G>T (p.Gly297Cys)
| gnomAD v4 |
1 | g.1233169_1233188del | CA2586963994 | B3GALT6 | c.891_910del (p.Arg298AlafsTer?)
| |
1 | g.1233168G>A | CA16755693 | B3GALT6 | c.890G>A (p.Gly297Asp)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1233168G>C | CA337830259 | B3GALT6 | c.890G>C (p.Gly297Ala)
| dbSNP gnomAD v2 |
1 | g.1233168G= | CA1148814309 | B3GALT6 | c.890G= (p.Gly297=)
| |
1 | g.1233168G>T | CA337830257 | B3GALT6 | c.890G>T (p.Gly297Val)
| gnomAD v4 |
1 | g.1233169C>A | CA415760994 | B3GALT6 | c.891C>A (p.Gly297=)
| gnomAD v4 |
1 | g.1233169C= | CA1148814320 | B3GALT6 | c.891C= (p.Gly297=)
| |
1 | g.1233169C>G | CA415760996 | B3GALT6 | c.891C>G (p.Gly297=)
| |
1 | g.1233169C>T | CA415760999 | B3GALT6 | c.891C>T (p.Gly297=)
| dbSNP gnomAD v4 |
1 | g.1233170C>A | CA337830262 | B3GALT6 | c.892C>A (p.Arg298Ser)
| gnomAD v4 |
1 | g.1233170C= | CA1145049038 | B3GALT6 | c.892C= (p.Arg298=)
| |
1 | g.1233170C>G | CA337830267 | B3GALT6 | c.892C>G (p.Arg298Gly)
| gnomAD v4 |
1 | g.1233170C>T | CA513455 | B3GALT6 | c.892C>T (p.Arg298Cys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1233171G>A | CA337830269 | B3GALT6 | c.893G>A (p.Arg298His)
| gnomAD v4 |
1 | g.1233171G>C | CA337830273 | B3GALT6 | c.893G>C (p.Arg298Pro)
| dbSNP |
1 | g.1233171G= | CA1148814327 | B3GALT6 | c.893G= (p.Arg298=)
| |
1 | g.1233171G>T | CA337830271 | B3GALT6 | c.893G>T (p.Arg298Leu)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.1233172C>A | CA415761004 | B3GALT6 | c.894C>A (p.Arg298=)
| gnomAD v4 |
1 | g.1233172C>G | CA415761010 | B3GALT6 | c.894C>G (p.Arg298=)
| |
1 | g.1233172C>T | CA415761013 | B3GALT6 | c.894C>T (p.Arg298=)
| gnomAD v4 |
1 | g.1233173C>A | CA513456 | B3GALT6 | c.895C>A (p.Leu299Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1233173C= | CA1144007009 | B3GALT6 | c.895C= (p.Leu299=)
| |
1 | g.1233173C>G | CA337830283 | B3GALT6 | c.895C>G (p.Leu299Val)
| gnomAD v4 |
1 | g.1233173C>T | CA513457 | B3GALT6 | c.895C>T (p.Leu299=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.1233174T>A | CA337830288 | B3GALT6 | c.896T>A (p.Leu299Gln)
| gnomAD v4 |
1 | g.1233174T>C | CA337830291 | B3GALT6 | c.896T>C (p.Leu299Pro)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.1233174T>G | CA337830289 | B3GALT6 | c.896T>G (p.Leu299Arg)
| |
1 | g.1233174T= | CA1148814356 | B3GALT6 | c.896T= (p.Leu299=)
| |
1 | g.1233175G>A | CA16755696 | B3GALT6 | c.897G>A (p.Leu299=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1233175G>C | CA415761017 | B3GALT6 | c.897G>C (p.Leu299=)
| |
1 | g.1233175G= | CA1148814363 | B3GALT6 | c.897G= (p.Leu299=)
| |
1 | g.1233175G>T | CA415761020 | B3GALT6 | c.897G>T (p.Leu299=)
| gnomAD v4 |
1 | g.1233176T>A | CA337830293 | B3GALT6 | c.898T>A (p.Cys300Ser)
| gnomAD v4 |
1 | g.1233176T>C | CA337830302 | B3GALT6 | c.898T>C (p.Cys300Arg)
| gnomAD v4 |
1 | g.1233176T>G | CA337830297 | B3GALT6 | c.898T>G (p.Cys300Gly)
| |
1 | g.1233176T= | CA1148814376 | B3GALT6 | c.898T= (p.Cys300=)
| |
1 | g.1233177G>A | CA337830307 | B3GALT6 | c.899G>A (p.Cys300Tyr)
| dbSNP gnomAD v4 |
1 | g.1233177G>C | CA144525 | B3GALT6 | c.899G>C (p.Cys300Ser)
| ClinVar dbSNP |
1 | g.1233177G= | CA1148814401 | B3GALT6 | c.899G= (p.Cys300=)
| |
1 | g.1233177G>T | CA337830316 | B3GALT6 | c.899G>T (p.Cys300Phe)
| gnomAD v4 |
1 | g.1233179_1233182dup | CA886928542 | B3GALT6 | c.901_904dup (p.Arg302GlnfsTer?)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.1233179_1233199dup | CA1148814390 | B3GALT6 | c.901_921dup (p.Arg307_Leu308insLysArgGluValGlnLeuArg)
| dbSNP |
1 | g.1233178C>A | CA337830320 | B3GALT6 | c.900C>A (p.Cys300Ter)
| gnomAD v4 |
1 | g.1233178C>G | CA337830322 | B3GALT6 | c.900C>G (p.Cys300Trp)
| COSMIC |
1 | g.1233178C>T | CA415761035 | B3GALT6 | c.900C>T (p.Cys300=)
| gnomAD v4 |
1 | g.1233179A>C | CA337830324 | B3GALT6 | c.901A>C (p.Lys301Gln)
| |
1 | g.1233179A>G | CA337830326 | B3GALT6 | c.901A>G (p.Lys301Glu)
| gnomAD v4 |
1 | g.1233179A>T | CA337830325 | B3GALT6 | c.901A>T (p.Lys301Ter)
| |
1 | g.1233180A>C | CA337830327 | B3GALT6 | c.902A>C (p.Lys301Thr)
| |
1 | g.1233180A>G | CA337830328 | B3GALT6 | c.902A>G (p.Lys301Arg)
| gnomAD v4 |
1 | g.1233180A>T | CA337830329 | B3GALT6 | c.902A>T (p.Lys301Met)
| |
1 | g.1233181G>A | CA415761042 | B3GALT6 | c.903G>A (p.Lys301=)
| ClinVar gnomAD v4 |
1 | g.1233181G>C | CA337830330 | B3GALT6 | c.903G>C (p.Lys301Asn)
| |
1 | g.1233181G>T | CA337830331 | B3GALT6 | c.903G>T (p.Lys301Asn)
| gnomAD v4 |
1 | g.1233182C>A | CA337830332 | B3GALT6 | c.904C>A (p.Arg302Ser)
| gnomAD v4 |
1 | g.1233182C= | CA1148814408 | B3GALT6 | c.904C= (p.Arg302=)
| |
1 | g.1233182C>G | CA337830352 | B3GALT6 | c.904C>G (p.Arg302Gly)
| |
1 | g.1233182C>T | CA337830354 | B3GALT6 | c.904C>T (p.Arg302Cys)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.1233183G>A | CA337830356 | B3GALT6 | c.905G>A (p.Arg302His)
| gnomAD v4 |
1 | g.1233183G>C | CA337830359 | B3GALT6 | c.905G>C (p.Arg302Pro)
| |
1 | g.1233183G>T | CA337830361 | B3GALT6 | c.905G>T (p.Arg302Leu)
| ClinVar gnomAD v4 |
1 | g.1233184C>A | CA415761048 | B3GALT6 | c.906C>A (p.Arg302=)
| gnomAD v4 |
1 | g.1233184C>G | CA415761051 | B3GALT6 | c.906C>G (p.Arg302=)
| |
1 | g.1233184C>T | CA415761049 | B3GALT6 | c.906C>T (p.Arg302=)
| gnomAD v4 |
1 | g.1233185G>A | CA337830366 | B3GALT6 | c.907G>A (p.Glu303Lys)
| gnomAD v4 |
1 | g.1233185G>C | CA337830375 | B3GALT6 | c.907G>C (p.Glu303Gln)
| |
1 | g.1233185G>T | CA337830371 | B3GALT6 | c.907G>T (p.Glu303Ter)
| gnomAD v4 |
1 | g.1233186A>C | CA337830379 | B3GALT6 | c.908A>C (p.Glu303Ala)
| |
1 | g.1233186A>G | CA337830384 | B3GALT6 | c.908A>G (p.Glu303Gly)
| gnomAD v4 |
1 | g.1233186A>T | CA337830387 | B3GALT6 | c.908A>T (p.Glu303Val)
| |
1 | g.1233187G>A | CA200609 | B3GALT6 | c.909G>A (p.Glu303=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1233187G>C | CA337830388 | B3GALT6 | c.909G>C (p.Glu303Asp)
| dbSNP gnomAD v4 |
1 | g.1233187G= | CA1143600902 | B3GALT6 | c.909G= (p.Glu303=)
| |
1 | g.1233187G>T | CA337830389 | B3GALT6 | c.909G>T (p.Glu303Asp)
| gnomAD v4 |
1 | g.1233188G>A | CA16755699 | B3GALT6 | c.910G>A (p.Val304Met)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1233188G>C | CA337830390 | B3GALT6 | c.910G>C (p.Val304Leu)
| |
1 | g.1233188G= | CA1143826153 | B3GALT6 | c.910G= (p.Val304=)
| |
1 | g.1233188G>T | CA337830391 | B3GALT6 | c.910G>T (p.Val304Leu)
| gnomAD v4 |
1 | g.1233189T>A | CA337830435 | B3GALT6 | c.911T>A (p.Val304Glu)
| |
1 | g.1233189T>C | CA337830436 | B3GALT6 | c.911T>C (p.Val304Ala)
| gnomAD v4 |
1 | g.1233189T>G | CA337830395 | B3GALT6 | c.911T>G (p.Val304Gly)
| |
1 | g.1233190G>A | CA415761066 | B3GALT6 | c.912G>A (p.Val304=)
| gnomAD v4 |
1 | g.1233190G>C | CA415761067 | B3GALT6 | c.912G>C (p.Val304=)
| |
1 | g.1233190G>T | CA415761068 | B3GALT6 | c.912G>T (p.Val304=)
| gnomAD v4 |
1 | g.1233191C>A | CA337830439 | B3GALT6 | c.913C>A (p.Gln305Lys)
| gnomAD v4 |
1 | g.1233191C= | CA1148814430 | B3GALT6 | c.913C= (p.Gln305=)
| |
1 | g.1233191C>G | CA337830448 | B3GALT6 | c.913C>G (p.Gln305Glu)
| |
1 | g.1233191C>T | CA16755701 | B3GALT6 | c.913C>T (p.Gln305Ter)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.1233192A= | CA1148814438 | B3GALT6 | c.914A= (p.Gln305=)
| |
1 | g.1233192A>C | CA337830452 | B3GALT6 | c.914A>C (p.Gln305Pro)
| gnomAD v4 |
1 | g.1233192A>G | CA337830453 | B3GALT6 | c.914A>G (p.Gln305Arg)
| gnomAD v4 |
1 | g.1233192A>T | CA337830456 | B3GALT6 | c.914A>T (p.Gln305Leu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1233193G>A | CA415761075 | B3GALT6 | c.915G>A (p.Gln305=)
| gnomAD v4 |
1 | g.1233193G>C | CA16755705 | B3GALT6 | c.915G>C (p.Gln305His)
| dbSNP gnomAD v4 |
1 | g.1233193G= | CA1148814445 | B3GALT6 | c.915G= (p.Gln305=)
| |
1 | g.1233193G>T | CA337830462 | B3GALT6 | c.915G>T (p.Gln305His)
| gnomAD v4 |
1 | g.1233194C>A | CA337830463 | B3GALT6 | c.916C>A (p.Leu306Met)
| gnomAD v4 COSMIC |
1 | g.1233194C= | CA1148814454 | B3GALT6 | c.916C= (p.Leu306=)
| |
1 | g.1233194C>G | CA337830464 | B3GALT6 | c.916C>G (p.Leu306Val)
| gnomAD v4 |
1 | g.1233194C>T | CA415761078 | B3GALT6 | c.916C>T (p.Leu306=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1233195T>A | CA337830467 | B3GALT6 | c.917T>A (p.Leu306Gln)
| dbSNP |
1 | g.1233195T>C | CA337830470 | B3GALT6 | c.917T>C (p.Leu306Pro)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.1233195T>G | CA337830476 | B3GALT6 | c.917T>G (p.Leu306Arg)
| |
1 | g.1233195T= | CA1148814460 | B3GALT6 | c.917T= (p.Leu306=)
| |
1 | g.1233196G>A | CA16755707 | B3GALT6 | c.918G>A (p.Leu306=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1233196G>C | CA415761080 | B3GALT6 | c.918G>C (p.Leu306=)
| gnomAD v4 |
1 | g.1233196G= | CA1147824244 | B3GALT6 | c.918G= (p.Leu306=)
| |
1 | g.1233196G>T | CA415761081 | B3GALT6 | c.918G>T (p.Leu306=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |