1 | g.1232977_1233000del | CA2642526509 | B3GALT6 | c.699_722del (p.Asp233_Ser240del)
| gnomAD v4 |
1 | g.1232996A>C | CA337828809 | B3GALT6 | c.718A>C (p.Ser240Arg)
| |
1 | g.1232996A>G | CA337828814 | B3GALT6 | c.718A>G (p.Ser240Gly)
| gnomAD v4 |
1 | g.1232996A>T | CA337828819 | B3GALT6 | c.718A>T (p.Ser240Cys)
| gnomAD v4 |
1 | g.1232997G>A | CA337828826 | B3GALT6 | c.719G>A (p.Ser240Asn)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1232997G>C | CA337828832 | B3GALT6 | c.719G>C (p.Ser240Thr)
| |
1 | g.1232997G= | CA1148813076 | B3GALT6 | c.719G= (p.Ser240=)
| |
1 | g.1232997G>T | CA337828845 | B3GALT6 | c.719G>T (p.Ser240Ile)
| gnomAD v4 |
1 | g.1232998C>A | CA337828848 | B3GALT6 | c.720C>A (p.Ser240Arg)
| gnomAD v4 |
1 | g.1232998C= | CA1148813079 | B3GALT6 | c.720C= (p.Ser240=)
| |
1 | g.1232998C>G | CA337828851 | B3GALT6 | c.720C>G (p.Ser240Arg)
| gnomAD v4 |
1 | g.1232998C>T | CA415761052 | B3GALT6 | c.720C>T (p.Ser240=)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.1232999G>A | CA513434 | B3GALT6 | c.721G>A (p.Glu241Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.1232999G>C | CA337828856 | B3GALT6 | c.721G>C (p.Glu241Gln)
| |
1 | g.1232999G= | CA1148813083 | B3GALT6 | c.721G= (p.Glu241=)
| |
1 | g.1232999G>T | CA337828857 | B3GALT6 | c.721G>T (p.Glu241Ter)
| gnomAD v4 |
1 | g.1233000A>C | CA337828861 | B3GALT6 | c.722A>C (p.Glu241Ala)
| gnomAD v4 |
1 | g.1233000A>G | CA337828858 | B3GALT6 | c.722A>G (p.Glu241Gly)
| |
1 | g.1233000A>T | CA337828859 | B3GALT6 | c.722A>T (p.Glu241Val)
| gnomAD v4 |
1 | g.1233001G>A | CA513435 | B3GALT6 | c.723G>A (p.Glu241=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.1233001G>C | CA337828869 | B3GALT6 | c.723G>C (p.Glu241Asp)
| gnomAD v4 |
1 | g.1233001G= | CA1148813104 | B3GALT6 | c.723G= (p.Glu241=)
| |
1 | g.1233001G>T | CA337828871 | B3GALT6 | c.723G>T (p.Glu241Asp)
| gnomAD v4 COSMIC |
1 | g.1233002G>A | CA337828874 | B3GALT6 | c.724G>A (p.Asp242Asn)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1233002G>C | CA337828875 | B3GALT6 | c.724G>C (p.Asp242His)
| |
1 | g.1233002G= | CA1148813120 | B3GALT6 | c.724G= (p.Asp242=)
| |
1 | g.1233002G>T | CA337828876 | B3GALT6 | c.724G>T (p.Asp242Tyr)
| gnomAD v4 |
1 | g.1233003A>C | CA337828890 | B3GALT6 | c.725A>C (p.Asp242Ala)
| |
1 | g.1233003A>G | CA337828891 | B3GALT6 | c.725A>G (p.Asp242Gly)
| gnomAD v4 |
1 | g.1233003A>T | CA337828892 | B3GALT6 | c.725A>T (p.Asp242Val)
| |
1 | g.1233004C>A | CA337828894 | B3GALT6 | c.726C>A (p.Asp242Glu)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.1233004C= | CA1148813124 | B3GALT6 | c.726C= (p.Asp242=)
| |
1 | g.1233004C>G | CA337828895 | B3GALT6 | c.726C>G (p.Asp242Glu)
| |
1 | g.1233004C>T | CA513436 | B3GALT6 | c.726C>T (p.Asp242=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.1233005G>A | CA337828929 | B3GALT6 | c.727G>A (p.Val243Met)
| gnomAD v4 |
1 | g.1233005G>C | CA337828936 | B3GALT6 | c.727G>C (p.Val243Leu)
| |
1 | g.1233005G= | CA1148813148 | B3GALT6 | c.727G= (p.Val243=)
| |
1 | g.1233005G>T | CA337828921 | B3GALT6 | c.727G>T (p.Val243Leu)
| dbSNP gnomAD v4 |
1 | g.1233006T>A | CA337828951 | B3GALT6 | c.728T>A (p.Val243Glu)
| gnomAD v4 |
1 | g.1233006T>C | CA337828948 | B3GALT6 | c.728T>C (p.Val243Ala)
| |
1 | g.1233006T>G | CA337828953 | B3GALT6 | c.728T>G (p.Val243Gly)
| |
1 | g.1233007G>A | CA415761082 | B3GALT6 | c.729G>A (p.Val243=)
| |
1 | g.1233007G>C | CA415761083 | B3GALT6 | c.729G>C (p.Val243=)
| |
1 | g.1233007G>T | CA415761084 | B3GALT6 | c.729G>T (p.Val243=)
| gnomAD v4 |
1 | g.1233008T>A | CA337828967 | B3GALT6 | c.730T>A (p.Ser244Thr)
| |
1 | g.1233008T>C | CA337828968 | B3GALT6 | c.730T>C (p.Ser244Pro)
| gnomAD v4 |
1 | g.1233008T>G | CA513437 | B3GALT6 | c.730T>G (p.Ser244Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.1233008T= | CA1148813157 | B3GALT6 | c.730T= (p.Ser244=)
| |
1 | g.1233009C>A | CA337828971 | B3GALT6 | c.731C>A (p.Ser244Tyr)
| gnomAD v4 |
1 | g.1233009C= | CA1148813164 | B3GALT6 | c.731C= (p.Ser244=)
| |
1 | g.1233009C>G | CA337828974 | B3GALT6 | c.731C>G (p.Ser244Cys)
| dbSNP |
1 | g.1233009C>T | CA337828977 | B3GALT6 | c.731C>T (p.Ser244Phe)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1233010T>A | CA415761106 | B3GALT6 | c.732T>A (p.Ser244=)
| gnomAD v4 |
1 | g.1233010T>C | CA415761108 | B3GALT6 | c.732T>C (p.Ser244=)
| |
1 | g.1233010T>G | CA415761112 | B3GALT6 | c.732T>G (p.Ser244=)
| |
1 | g.1233011C>A | CA337828981 | B3GALT6 | c.733C>A (p.Leu245Met)
| gnomAD v4 |
1 | g.1233011C>G | CA337828979 | B3GALT6 | c.733C>G (p.Leu245Val)
| gnomAD v4 |
1 | g.1233011C>T | CA415761115 | B3GALT6 | c.733C>T (p.Leu245=)
| |
1 | g.1233012T>A | CA337828989 | B3GALT6 | c.734T>A (p.Leu245Gln)
| |
1 | g.1233012T>C | CA337829004 | B3GALT6 | c.734T>C (p.Leu245Pro)
| |
1 | g.1233012T>G | CA337829020 | B3GALT6 | c.734T>G (p.Leu245Arg)
| |
1 | g.1233013G>A | CA415761121 | B3GALT6 | c.735G>A (p.Leu245=)
| |
1 | g.1233013G>C | CA415761122 | B3GALT6 | c.735G>C (p.Leu245=)
| |
1 | g.1233013G= | CA1148813175 | B3GALT6 | c.735G= (p.Leu245=)
| |
1 | g.1233013G>T | CA415761123 | B3GALT6 | c.735G>T (p.Leu245=)
| dbSNP gnomAD v4 |
1 | g.1233015del | CA2642526691 | B3GALT6 | c.737del (p.Gly246AlafsTer?)
| gnomAD v4 |
1 | g.1233014G>A | CA337829023 | B3GALT6 | c.736G>A (p.Gly246Ser)
| gnomAD v4 |
1 | g.1233014G>C | CA16755601 | B3GALT6 | c.736G>C (p.Gly246Arg)
| dbSNP |
1 | g.1233014G= | CA1141222100 | B3GALT6 | c.736G= (p.Gly246=)
| |
1 | g.1233014G>T | CA337829034 | B3GALT6 | c.736G>T (p.Gly246Cys)
| gnomAD v4 |
1 | g.1233020_1233030del | CA2642526694 | B3GALT6 | c.742_752del (p.Trp248GlyfsTer?)
| gnomAD v4 |
1 | g.1233015G>A | CA337829046 | B3GALT6 | c.737G>A (p.Gly246Asp)
| gnomAD v4 |
1 | g.1233015G>C | CA337829052 | B3GALT6 | c.737G>C (p.Gly246Ala)
| |
1 | g.1233015G>T | CA337829050 | B3GALT6 | c.737G>T (p.Gly246Val)
| gnomAD v4 |
1 | g.1233016C>A | CA415761135 | B3GALT6 | c.738C>A (p.Gly246=)
| gnomAD v4 |
1 | g.1233016C>G | CA415761134 | B3GALT6 | c.738C>G (p.Gly246=)
| |
1 | g.1233016C>T | CA415761131 | B3GALT6 | c.738C>T (p.Gly246=)
| gnomAD v4 |
1 | g.1233017G>A | CA337829053 | B3GALT6 | c.739G>A (p.Ala247Thr)
| gnomAD v4 |
1 | g.1233017G>C | CA337829055 | B3GALT6 | c.739G>C (p.Ala247Pro)
| dbSNP |
1 | g.1233017G= | CA1148813184 | B3GALT6 | c.739G= (p.Ala247=)
| |
1 | g.1233017G>T | CA337829058 | B3GALT6 | c.739G>T (p.Ala247Ser)
| gnomAD v4 |
1 | g.1233018C>A | CA337829060 | B3GALT6 | c.740C>A (p.Ala247Asp)
| |
1 | g.1233018C>G | CA337829062 | B3GALT6 | c.740C>G (p.Ala247Gly)
| |
1 | g.1233018C>T | CA337829066 | B3GALT6 | c.740C>T (p.Ala247Val)
| gnomAD v4 |
1 | g.1233019C>A | CA415761139 | B3GALT6 | c.741C>A (p.Ala247=)
| gnomAD v4 |
1 | g.1233019C= | CA1148813192 | B3GALT6 | c.741C= (p.Ala247=)
| |
1 | g.1233019C>G | CA415761141 | B3GALT6 | c.741C>G (p.Ala247=)
| |
1 | g.1233019C>T | CA513438 | B3GALT6 | c.741C>T (p.Ala247=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.1233020T>A | CA337829068 | B3GALT6 | c.742T>A (p.Trp248Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1233020T>C | CA337829070 | B3GALT6 | c.742T>C (p.Trp248Arg)
| gnomAD v4 |
1 | g.1233020T>G | CA337829073 | B3GALT6 | c.742T>G (p.Trp248Gly)
| |
1 | g.1233020T= | CA1148813202 | B3GALT6 | c.742T= (p.Trp248=)
| |
1 | g.1233021G>A | CA337829085 | B3GALT6 | c.743G>A (p.Trp248Ter)
| gnomAD v4 |
1 | g.1233021G>C | CA513439 | B3GALT6 | c.743G>C (p.Trp248Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1233021G= | CA1148813216 | B3GALT6 | c.743G= (p.Trp248=)
| |
1 | g.1233021G>T | CA337829077 | B3GALT6 | c.743G>T (p.Trp248Leu)
| gnomAD v4 |
1 | g.1233022G>A | CA337829088 | B3GALT6 | c.744G>A (p.Trp248Ter)
| gnomAD v4 |
1 | g.1233022G>C | CA337829090 | B3GALT6 | c.744G>C (p.Trp248Cys)
| gnomAD v4 |
1 | g.1233022G>T | CA337829092 | B3GALT6 | c.744G>T (p.Trp248Cys)
| gnomAD v4 |
1 | g.1233023C>A | CA337829101 | B3GALT6 | c.745C>A (p.Leu249Met)
| gnomAD v4 |
1 | g.1233023C= | CA1148813223 | B3GALT6 | c.745C= (p.Leu249=)
| |
1 | g.1233023C>G | CA337829103 | B3GALT6 | c.745C>G (p.Leu249Val)
| gnomAD v4 |
1 | g.1233023C>T | CA415761147 | B3GALT6 | c.745C>T (p.Leu249=)
| dbSNP gnomAD v4 |
1 | g.1233024T>A | CA337829111 | B3GALT6 | c.746T>A (p.Leu249Gln)
| |
1 | g.1233024T>C | CA337829109 | B3GALT6 | c.746T>C (p.Leu249Pro)
| gnomAD v4 |
1 | g.1233024T>G | CA337829106 | B3GALT6 | c.746T>G (p.Leu249Arg)
| |
1 | g.1233025G>A | CA415761276 | B3GALT6 | c.747G>A (p.Leu249=)
| gnomAD v4 |
1 | g.1233025G>C | CA415761277 | B3GALT6 | c.747G>C (p.Leu249=)
| gnomAD v4 |
1 | g.1233025G>T | CA415761279 | B3GALT6 | c.747G>T (p.Leu249=)
| gnomAD v4 |
1 | g.1233026G>A | CA337829115 | B3GALT6 | c.748G>A (p.Ala250Thr)
| gnomAD v4 |
1 | g.1233026G>C | CA337829116 | B3GALT6 | c.748G>C (p.Ala250Pro)
| |
1 | g.1233026G= | CA1148813259 | B3GALT6 | c.748G= (p.Ala250=)
| |
1 | g.1233026G>T | CA337829117 | B3GALT6 | c.748G>T (p.Ala250Ser)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.1233027C>A | CA337829119 | B3GALT6 | c.749C>A (p.Ala250Glu)
| gnomAD v4 |
1 | g.1233027C>G | CA337829121 | B3GALT6 | c.749C>G (p.Ala250Gly)
| ClinVar dbSNP |
1 | g.1233027C>T | CA337829123 | B3GALT6 | c.749C>T (p.Ala250Val)
| ClinVar dbSNP gnomAD v4 |
1 | g.1233028G>A | CA415761285 | B3GALT6 | c.750G>A (p.Ala250=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1233028G>C | CA415761286 | B3GALT6 | c.750G>C (p.Ala250=)
| gnomAD v4 |
1 | g.1233028G= | CA1148813268 | B3GALT6 | c.750G= (p.Ala250=)
| |
1 | g.1233028G>T | CA415761287 | B3GALT6 | c.750G>T (p.Ala250=)
| gnomAD v4 |
1 | g.1233029C>A | CA337829125 | B3GALT6 | c.751C>A (p.Pro251Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1233029C= | CA1148813278 | B3GALT6 | c.751C= (p.Pro251=)
| |
1 | g.1233029C>G | CA337829137 | B3GALT6 | c.751C>G (p.Pro251Ala)
| |
1 | g.1233029C>T | CA337829126 | B3GALT6 | c.751C>T (p.Pro251Ser)
| gnomAD v4 |
1 | g.1233030C>A | CA337829140 | B3GALT6 | c.752C>A (p.Pro251Gln)
| |
1 | g.1233030C>G | CA337829153 | B3GALT6 | c.752C>G (p.Pro251Arg)
| |
1 | g.1233030C>T | CA337829159 | B3GALT6 | c.752C>T (p.Pro251Leu)
| gnomAD v4 |
1 | g.1233030_1233031delinsCG | CA1148813314 | B3GALT6 | c.752_753delinsCG (p.Pro251=)
| |
1 | g.1233031G>A | CA513440 | B3GALT6 | c.753G>A (p.Pro251=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1233031G>C | CA415761294 | B3GALT6 | c.753G>C (p.Pro251=)
| |
1 | g.1233031G= | CA1143721405 | B3GALT6 | c.753G= (p.Pro251=)
| |
1 | g.1233031G>T | CA415761290 | B3GALT6 | c.753G>T (p.Pro251=)
| gnomAD v4 |
1 | g.1233032del | CA520665252 | B3GALT6 | c.754del (p.Val252TrpfsTer26)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.1233032G>A | CA337829174 | B3GALT6 | c.754G>A (p.Val252Met)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.1233032G>C | CA337829179 | B3GALT6 | c.754G>C (p.Val252Leu)
| |
1 | g.1233032G>T | CA337829181 | B3GALT6 | c.754G>T (p.Val252Leu)
| gnomAD v4 COSMIC |
1 | g.1233033T>A | CA337829182 | B3GALT6 | c.755T>A (p.Val252Glu)
| |
1 | g.1233033T>C | CA337829184 | B3GALT6 | c.755T>C (p.Val252Ala)
| gnomAD v4 |
1 | g.1233033T>G | CA337829185 | B3GALT6 | c.755T>G (p.Val252Gly)
| gnomAD v4 |
1 | g.1233034G>A | CA415761304 | B3GALT6 | c.756G>A (p.Val252=)
| gnomAD v4 |
1 | g.1233034G>C | CA415761306 | B3GALT6 | c.756G>C (p.Val252=)
| gnomAD v4 |
1 | g.1233034G>T | CA415761308 | B3GALT6 | c.756G>T (p.Val252=)
| gnomAD v4 |
1 | g.1233035G>A | CA337829188 | B3GALT6 | c.757G>A (p.Asp253Asn)
| COSMIC |
1 | g.1233035G>C | CA337829187 | B3GALT6 | c.757G>C (p.Asp253His)
| |
1 | g.1233035G= | CA1148813356 | B3GALT6 | c.757G= (p.Asp253=)
| |
1 | g.1233035G>T | CA337829186 | B3GALT6 | c.757G>T (p.Asp253Tyr)
| dbSNP gnomAD v4 |
1 | g.1233036A>C | CA337829190 | B3GALT6 | c.758A>C (p.Asp253Ala)
| |
1 | g.1233036A>G | CA337829202 | B3GALT6 | c.758A>G (p.Asp253Gly)
| gnomAD v4 |
1 | g.1233036A>T | CA337829194 | B3GALT6 | c.758A>T (p.Asp253Val)
| |
1 | g.1233037C>A | CA337829208 | B3GALT6 | c.759C>A (p.Asp253Glu)
| gnomAD v4 |
1 | g.1233037C= | CA1148813363 | B3GALT6 | c.759C= (p.Asp253=)
| |
1 | g.1233037C>G | CA337829216 | B3GALT6 | c.759C>G (p.Asp253Glu)
| |
1 | g.1233037C>T | CA415761311 | B3GALT6 | c.759C>T (p.Asp253=)
| dbSNP gnomAD v4 |
1 | g.1233038G>A | CA337829225 | B3GALT6 | c.760G>A (p.Val254Ile)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.1233038G>C | CA337829227 | B3GALT6 | c.760G>C (p.Val254Leu)
| |
1 | g.1233038G= | CA1148813391 | B3GALT6 | c.760G= (p.Val254=)
| |
1 | g.1233038G>T | CA337829231 | B3GALT6 | c.760G>T (p.Val254Phe)
| gnomAD v4 |
1 | g.1233039T>A | CA337829237 | B3GALT6 | c.761T>A (p.Val254Asp)
| |
1 | g.1233039T>C | CA337829240 | B3GALT6 | c.761T>C (p.Val254Ala)
| gnomAD v4 |
1 | g.1233039T>G | CA337829241 | B3GALT6 | c.761T>G (p.Val254Gly)
| |
1 | g.1233040C>A | CA415761317 | B3GALT6 | c.762C>A (p.Val254=)
| ClinVar dbSNP gnomAD v4 |
1 | g.1233040C>G | CA415761320 | B3GALT6 | c.762C>G (p.Val254=)
| |
1 | g.1233040C>T | CA415761321 | B3GALT6 | c.762C>T (p.Val254=)
| |
1 | g.1233041C>A | CA337829242 | B3GALT6 | c.763C>A (p.Gln255Lys)
| gnomAD v4 |
1 | g.1233041C= | CA1148813417 | B3GALT6 | c.763C= (p.Gln255=)
| |
1 | g.1233041C>G | CA337829246 | B3GALT6 | c.763C>G (p.Gln255Glu)
| ClinVar gnomAD v4 |
1 | g.1233041C>T | CA337829247 | B3GALT6 | c.763C>T (p.Gln255Ter)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.1233042A= | CA1148813454 | B3GALT6 | c.764A= (p.Gln255=)
| |
1 | g.1233042A>C | CA337829280 | B3GALT6 | c.764A>C (p.Gln255Pro)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.1233042A>G | CA337829257 | B3GALT6 | c.764A>G (p.Gln255Arg)
| gnomAD v4 |
1 | g.1233042A>T | CA337829271 | B3GALT6 | c.764A>T (p.Gln255Leu)
| |
1 | g.1233043G>A | CA415761324 | B3GALT6 | c.765G>A (p.Gln255=)
| dbSNP gnomAD v4 |
1 | g.1233043G>C | CA337829283 | B3GALT6 | c.765G>C (p.Gln255His)
| dbSNP gnomAD v4 |
1 | g.1233043G= | CA1148813458 | B3GALT6 | c.765G= (p.Gln255=)
| |
1 | g.1233043G>T | CA337829292 | B3GALT6 | c.765G>T (p.Gln255His)
| gnomAD v4 |
1 | g.1233044C>A | CA415761326 | B3GALT6 | c.766C>A (p.Arg256=)
| gnomAD v4 |
1 | g.1233044C= | CA1148813462 | B3GALT6 | c.766C= (p.Arg256=)
| |
1 | g.1233044C>G | CA337829293 | B3GALT6 | c.766C>G (p.Arg256Gly)
| gnomAD v4 |
1 | g.1233044C>T | CA337829295 | B3GALT6 | c.766C>T (p.Arg256Trp)
| ClinVar dbSNP gnomAD v4 |
1 | g.1233045G>A | CA337829299 | B3GALT6 | c.767G>A (p.Arg256Gln)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.1233045G>C | CA337829309 | B3GALT6 | c.767G>C (p.Arg256Pro)
| |
1 | g.1233045G= | CA1148813471 | B3GALT6 | c.767G= (p.Arg256=)
| |
1 | g.1233045G>T | CA337829312 | B3GALT6 | c.767G>T (p.Arg256Leu)
| gnomAD v4 |
1 | g.1233046G>A | CA513441 | B3GALT6 | c.768G>A (p.Arg256=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1233046G>C | CA415761331 | B3GALT6 | c.768G>C (p.Arg256=)
| |
1 | g.1233046G= | CA1148813503 | B3GALT6 | c.768G= (p.Arg256=)
| |
1 | g.1233046G>T | CA415761333 | B3GALT6 | c.768G>T (p.Arg256=)
| gnomAD v4 |
1 | g.1233047G>A | CA337829317 | B3GALT6 | c.769G>A (p.Glu257Lys)
| |
1 | g.1233047G>C | CA337829323 | B3GALT6 | c.769G>C (p.Glu257Gln)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.1233047G= | CA1148813516 | B3GALT6 | c.769G= (p.Glu257=)
| |
1 | g.1233047G>T | CA337829325 | B3GALT6 | c.769G>T (p.Glu257Ter)
| gnomAD v4 |
1 | g.1233048A>C | CA337829331 | B3GALT6 | c.770A>C (p.Glu257Ala)
| |
1 | g.1233048A>G | CA337829335 | B3GALT6 | c.770A>G (p.Glu257Gly)
| gnomAD v4 |
1 | g.1233048A>T | CA337829329 | B3GALT6 | c.770A>T (p.Glu257Val)
| |
1 | g.1233049G>A | CA415761345 | B3GALT6 | c.771G>A (p.Glu257=)
| gnomAD v4 |
1 | g.1233049G>C | CA337829338 | B3GALT6 | c.771G>C (p.Glu257Asp)
| |
1 | g.1233049G>T | CA337829341 | B3GALT6 | c.771G>T (p.Glu257Asp)
| gnomAD v4 |
1 | g.1233050C>A | CA337829343 | B3GALT6 | c.772C>A (p.His258Asn)
| gnomAD v4 |
1 | g.1233050C>G | CA337829345 | B3GALT6 | c.772C>G (p.His258Asp)
| |
1 | g.1233050C>T | CA337829346 | B3GALT6 | c.772C>T (p.His258Tyr)
| ClinVar gnomAD v4 |
1 | g.1233051A>C | CA337829348 | B3GALT6 | c.773A>C (p.His258Pro)
| gnomAD v4 |
1 | g.1233051A>G | CA337829352 | B3GALT6 | c.773A>G (p.His258Arg)
| gnomAD v4 |
1 | g.1233051A>T | CA337829361 | B3GALT6 | c.773A>T (p.His258Leu)
| |
1 | g.1233052C>A | CA337829363 | B3GALT6 | c.774C>A (p.His258Gln)
| gnomAD v4 |
1 | g.1233052C= | CA1148813536 | B3GALT6 | c.774C= (p.His258=)
| |
1 | g.1233052C>G | CA337829364 | B3GALT6 | c.774C>G (p.His258Gln)
| |
1 | g.1233052C>T | CA415761356 | B3GALT6 | c.774C>T (p.His258=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.1233053G>A | CA337829368 | B3GALT6 | c.775G>A (p.Asp259Asn)
| gnomAD v4 |
1 | g.1233053G>C | CA337829372 | B3GALT6 | c.775G>C (p.Asp259His)
| |
1 | g.1233053G>T | CA337829373 | B3GALT6 | c.775G>T (p.Asp259Tyr)
| gnomAD v4 |
1 | g.1233054A>C | CA337829426 | B3GALT6 | c.776A>C (p.Asp259Ala)
| |
1 | g.1233054A>G | CA337829410 | B3GALT6 | c.776A>G (p.Asp259Gly)
| gnomAD v4 |
1 | g.1233054A>T | CA337829379 | B3GALT6 | c.776A>T (p.Asp259Val)
| |
1 | g.1233055C>A | CA337829429 | B3GALT6 | c.777C>A (p.Asp259Glu)
| gnomAD v4 |
1 | g.1233055C>G | CA337829439 | B3GALT6 | c.777C>G (p.Asp259Glu)
| |
1 | g.1233055C>T | CA415761366 | B3GALT6 | c.777C>T (p.Asp259=)
| gnomAD v4 |
1 | g.1233057dup | CA2642526797 | B3GALT6 | c.779dup (p.Arg261AlafsTer?)
| gnomAD v4 |
1 | g.1233056C>A | CA16755619 | B3GALT6 | c.778C>A (p.Pro260Thr)
| dbSNP gnomAD v4 |
1 | g.1233056C= | CA1148813541 | B3GALT6 | c.778C= (p.Pro260=)
| |
1 | g.1233056C>G | CA337829449 | B3GALT6 | c.778C>G (p.Pro260Ala)
| dbSNP gnomAD v4 |
1 | g.1233056C>T | CA337829451 | B3GALT6 | c.778C>T (p.Pro260Ser)
| gnomAD v4 |
1 | g.1233057C>A | CA337829454 | B3GALT6 | c.779C>A (p.Pro260Gln)
| gnomAD v4 |
1 | g.1233057C>G | CA337829475 | B3GALT6 | c.779C>G (p.Pro260Arg)
| |
1 | g.1233057C>T | CA337829479 | B3GALT6 | c.779C>T (p.Pro260Leu)
| gnomAD v4 |
1 | g.1233060_1233061dup | CA2545979375 | B3GALT6 | c.782_783dup (p.Phe262AlafsTer17)
| |
1 | g.1233058_1233061dup | CA2574213869 | B3GALT6 | c.780_783dup (p.Phe262AlafsTer?)
| |
1 | g.1233058G>A | CA415761372 | B3GALT6 | c.780G>A (p.Pro260=)
| gnomAD v4 |
1 | g.1233058G>C | CA415761374 | B3GALT6 | c.780G>C (p.Pro260=)
| |
1 | g.1233058G>T | CA415761376 | B3GALT6 | c.780G>T (p.Pro260=)
| gnomAD v4 |
1 | g.1233059C>A | CA337829487 | B3GALT6 | c.781C>A (p.Arg261Ser)
| gnomAD v4 |
1 | g.1233059C= | CA1148813549 | B3GALT6 | c.781C= (p.Arg261=)
| |
1 | g.1233059C>G | CA337829490 | B3GALT6 | c.781C>G (p.Arg261Gly)
| |
1 | g.1233059C>T | CA16755628 | B3GALT6 | c.781C>T (p.Arg261Cys)
| dbSNP gnomAD v4 |
1 | g.1233060G>A | CA337829496 | B3GALT6 | c.782G>A (p.Arg261His)
| gnomAD v4 |
1 | g.1233060G>C | CA337829498 | B3GALT6 | c.782G>C (p.Arg261Pro)
| gnomAD v4 |
1 | g.1233060G= | CA1148730289 | B3GALT6 | c.782G= (p.Arg261=)
| |
1 | g.1233060G>T | CA513442 | B3GALT6 | c.782G>T (p.Arg261Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.1233061C>A | CA415761385 | B3GALT6 | c.783C>A (p.Arg261=)
| gnomAD v4 |
1 | g.1233061C= | CA1148813564 | B3GALT6 | c.783C= (p.Arg261=)
| |
1 | g.1233061C>G | CA415761386 | B3GALT6 | c.783C>G (p.Arg261=)
| |
1 | g.1233061C>T | CA16755642 | B3GALT6 | c.783C>T (p.Arg261=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1233062T>A | CA337829504 | B3GALT6 | c.784T>A (p.Phe262Ile)
| |
1 | g.1233062T>C | CA337829507 | B3GALT6 | c.784T>C (p.Phe262Leu)
| |
1 | g.1233062T>G | CA337829501 | B3GALT6 | c.784T>G (p.Phe262Val)
| |
1 | g.1233063T>A | CA337829508 | B3GALT6 | c.785T>A (p.Phe262Tyr)
| gnomAD v4 |
1 | g.1233063T>C | CA337829510 | B3GALT6 | c.785T>C (p.Phe262Ser)
| |
1 | g.1233063T>G | CA337829541 | B3GALT6 | c.785T>G (p.Phe262Cys)
| |
1 | g.1233064C>A | CA337829545 | B3GALT6 | c.786C>A (p.Phe262Leu)
| gnomAD v4 |
1 | g.1233064C>G | CA337829546 | B3GALT6 | c.786C>G (p.Phe262Leu)
| gnomAD v4 |
1 | g.1233064C>T | CA415761397 | B3GALT6 | c.786C>T (p.Phe262=)
| dbSNP gnomAD v4 COSMIC |
1 | g.1233065G>A | CA337829551 | B3GALT6 | c.787G>A (p.Asp263Asn)
| gnomAD v4 |
1 | g.1233065G>C | CA337829550 | B3GALT6 | c.787G>C (p.Asp263His)
| gnomAD v4 |
1 | g.1233065G>T | CA337829548 | B3GALT6 | c.787G>T (p.Asp263Tyr)
| gnomAD v4 |
1 | g.1233066A>C | CA337829553 | B3GALT6 | c.788A>C (p.Asp263Ala)
| |
1 | g.1233066A>G | CA337829554 | B3GALT6 | c.788A>G (p.Asp263Gly)
| gnomAD v4 |
1 | g.1233066A>T | CA337829556 | B3GALT6 | c.788A>T (p.Asp263Val)
| |
1 | g.1233067del | CA2574213872 | B3GALT6 | c.789del (p.Asp263GlufsTer15)
| |
1 | g.1233067C>A | CA337829559 | B3GALT6 | c.789C>A (p.Asp263Glu)
| gnomAD v4 |
1 | g.1233067C= | CA1145820449 | B3GALT6 | c.789C= (p.Asp263=)
| |
1 | g.1233067C>G | CA337829561 | B3GALT6 | c.789C>G (p.Asp263Glu)
| |
1 | g.1233067C>T | CA513443 | B3GALT6 | c.789C>T (p.Asp263=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1233068A= | CA1148813573 | B3GALT6 | c.790A= (p.Thr264=)
| |
1 | g.1233068A>C | CA337829572 | B3GALT6 | c.790A>C (p.Thr264Pro)
| |
1 | g.1233068A>G | CA337829566 | B3GALT6 | c.790A>G (p.Thr264Ala)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.1233068A>T | CA337829570 | B3GALT6 | c.790A>T (p.Thr264Ser)
| dbSNP gnomAD v4 |
1 | g.1233069C>A | CA337829574 | B3GALT6 | c.791C>A (p.Thr264Asn)
| gnomAD v4 |
1 | g.1233069C>G | CA337829576 | B3GALT6 | c.791C>G (p.Thr264Ser)
| |
1 | g.1233069C>T | CA337829577 | B3GALT6 | c.791C>T (p.Thr264Ile)
| gnomAD v4 |
1 | g.1233070_1233077dup | CA2642526843 | B3GALT6 | c.792_799dup (p.Arg267ProfsTer14)
| gnomAD v4 |
1 | g.1233070C>A | CA415761408 | B3GALT6 | c.792C>A (p.Thr264=)
| gnomAD v4 |
1 | g.1233070C= | CA1148813584 | B3GALT6 | c.792C= (p.Thr264=)
| |
1 | g.1233070C>G | CA415761409 | B3GALT6 | c.792C>G (p.Thr264=)
| |
1 | g.1233070C>T | CA415761410 | B3GALT6 | c.792C>T (p.Thr264=)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.1233071G>A | CA337829578 | B3GALT6 | c.793G>A (p.Glu265Lys)
| gnomAD v4 |
1 | g.1233071G>C | CA337829579 | B3GALT6 | c.793G>C (p.Glu265Gln)
| gnomAD v4 |
1 | g.1233071G= | CA1148813594 | B3GALT6 | c.793G= (p.Glu265=)
| |
1 | g.1233071G>T | CA337829585 | B3GALT6 | c.793G>T (p.Glu265Ter)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.1233072A>C | CA337829592 | B3GALT6 | c.794A>C (p.Glu265Ala)
| |
1 | g.1233072A>G | CA337829588 | B3GALT6 | c.794A>G (p.Glu265Gly)
| |
1 | g.1233072A>T | CA337829590 | B3GALT6 | c.794A>T (p.Glu265Val)
| |
1 | g.1233073A= | CA1144009958 | B3GALT6 | c.795A= (p.Glu265=)
| |
1 | g.1233073A>C | CA16755653 | B3GALT6 | c.795A>C (p.Glu265Asp)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.1233073A>G | CA415761419 | B3GALT6 | c.795A>G (p.Glu265=)
| gnomAD v4 |
1 | g.1233073A>T | CA337829596 | B3GALT6 | c.795A>T (p.Glu265Asp)
| |
1 | g.1233074T>A | CA337829599 | B3GALT6 | c.796T>A (p.Tyr266Asn)
| |
1 | g.1233074T>C | CA337829603 | B3GALT6 | c.796T>C (p.Tyr266His)
| gnomAD v4 |
1 | g.1233074T>G | CA337829605 | B3GALT6 | c.796T>G (p.Tyr266Asp)
| |
1 | g.1233075A>C | CA337829609 | B3GALT6 | c.797A>C (p.Tyr266Ser)
| |
1 | g.1233075A>G | CA337829620 | B3GALT6 | c.797A>G (p.Tyr266Cys)
| gnomAD v4 |
1 | g.1233075A>T | CA337829619 | B3GALT6 | c.797A>T (p.Tyr266Phe)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.1233076C>A | CA337829622 | B3GALT6 | c.798C>A (p.Tyr266Ter)
| gnomAD v4 |
1 | g.1233076C= | CA1148813610 | B3GALT6 | c.798C= (p.Tyr266=)
| |
1 | g.1233076C>G | CA337829624 | B3GALT6 | c.798C>G (p.Tyr266Ter)
| |
1 | g.1233076C>T | CA16755655 | B3GALT6 | c.798C>T (p.Tyr266=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.1233077C>A | CA415761430 | B3GALT6 | c.799C>A (p.Arg267=)
| gnomAD v4 |
1 | g.1233077C= | CA1148813613 | B3GALT6 | c.799C= (p.Arg267=)
| |
1 | g.1233077C>G | CA337829629 | B3GALT6 | c.799C>G (p.Arg267Gly)
| |
1 | g.1233077C>T | CA337829633 | B3GALT6 | c.799C>T (p.Arg267Trp)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.1233078G>A | CA337829635 | B3GALT6 | c.800G>A (p.Arg267Gln)
| gnomAD v4 COSMIC |
1 | g.1233078G>C | CA337829637 | B3GALT6 | c.800G>C (p.Arg267Pro)
| |
1 | g.1233078G>T | CA337829645 | B3GALT6 | c.800G>T (p.Arg267Leu)
| gnomAD v4 |
1 | g.1233079G>A | CA415761432 | B3GALT6 | c.801G>A (p.Arg267=)
| gnomAD v4 |
1 | g.1233079G>C | CA415761433 | B3GALT6 | c.801G>C (p.Arg267=)
| dbSNP gnomAD v4 |
1 | g.1233079G= | CA1148813620 | B3GALT6 | c.801G= (p.Arg267=)
| |
1 | g.1233079G>T | CA415761434 | B3GALT6 | c.801G>T (p.Arg267=)
| gnomAD v4 |
1 | g.1233080T>A | CA337829658 | B3GALT6 | c.802T>A (p.Ser268Thr)
| |
1 | g.1233080T>C | CA337829659 | B3GALT6 | c.802T>C (p.Ser268Pro)
| gnomAD v4 |
1 | g.1233080T>G | CA337829660 | B3GALT6 | c.802T>G (p.Ser268Ala)
| |
1 | g.1233081C>A | CA337829663 | B3GALT6 | c.803C>A (p.Ser268Tyr)
| gnomAD v4 |
1 | g.1233081C= | CA1148813628 | B3GALT6 | c.803C= (p.Ser268=)
| |
1 | g.1233081C>G | CA337829665 | B3GALT6 | c.803C>G (p.Ser268Cys)
| |
1 | g.1233081C>T | CA337829668 | B3GALT6 | c.803C>T (p.Ser268Phe)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.1233082C>A | CA415761441 | B3GALT6 | c.804C>A (p.Ser268=)
| gnomAD v4 |
1 | g.1233082C>G | CA415761445 | B3GALT6 | c.804C>G (p.Ser268=)
| |
1 | g.1233082C>T | CA415761442 | B3GALT6 | c.804C>T (p.Ser268=)
| gnomAD v4 |
1 | g.1233083C>A | CA337829691 | B3GALT6 | c.805C>A (p.Arg269Ser)
| gnomAD v4 |
1 | g.1233083C= | CA1148813665 | B3GALT6 | c.805C= (p.Arg269=)
| |
1 | g.1233083C>G | CA337829671 | B3GALT6 | c.805C>G (p.Arg269Gly)
| gnomAD v4 |
1 | g.1233083C>T | CA337829673 | B3GALT6 | c.805C>T (p.Arg269Cys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1233084G>A | CA337829695 | B3GALT6 | c.806G>A (p.Arg269His)
| gnomAD v4 |
1 | g.1233084G>C | CA337829698 | B3GALT6 | c.806G>C (p.Arg269Pro)
| |
1 | g.1233084G>T | CA337829701 | B3GALT6 | c.806G>T (p.Arg269Leu)
| gnomAD v4 |
1 | g.1233085C>A | CA415761448 | B3GALT6 | c.807C>A (p.Arg269=)
| gnomAD v4 |
1 | g.1233085C= | CA1148813732 | B3GALT6 | c.807C= (p.Arg269=)
| |
1 | g.1233085C>G | CA415761451 | B3GALT6 | c.807C>G (p.Arg269=)
| |
1 | g.1233085C>T | CA415761453 | B3GALT6 | c.807C>T (p.Arg269=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.1233086G>A | CA513444 | B3GALT6 | c.808G>A (p.Gly270Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1233086G>C | CA337829707 | B3GALT6 | c.808G>C (p.Gly270Arg)
| gnomAD v4 |
1 | g.1233086G= | CA1148813753 | B3GALT6 | c.808G= (p.Gly270=)
| |
1 | g.1233086G>T | CA337829710 | B3GALT6 | c.808G>T (p.Gly270Cys)
| gnomAD v4 |
1 | g.1233087G>A | CA337829713 | B3GALT6 | c.809G>A (p.Gly270Asp)
| gnomAD v4 |
1 | g.1233087G>C | CA337829715 | B3GALT6 | c.809G>C (p.Gly270Ala)
| gnomAD v4 |
1 | g.1233087G>T | CA337829717 | B3GALT6 | c.809G>T (p.Gly270Val)
| gnomAD v4 |
1 | g.1233088C>A | CA415761458 | B3GALT6 | c.810C>A (p.Gly270=)
| gnomAD v4 |
1 | g.1233088C= | CA1148813765 | B3GALT6 | c.810C= (p.Gly270=)
| |
1 | g.1233088C>G | CA415761460 | B3GALT6 | c.810C>G (p.Gly270=)
| gnomAD v4 |
1 | g.1233088C>T | CA415761459 | B3GALT6 | c.810C>T (p.Gly270=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.1233089T>A | CA337829719 | B3GALT6 | c.811T>A (p.Cys271Ser)
| |
1 | g.1233089T>C | CA337829720 | B3GALT6 | c.811T>C (p.Cys271Arg)
| gnomAD v4 |
1 | g.1233089T>G | CA337829767 | B3GALT6 | c.811T>G (p.Cys271Gly)
| |
1 | g.1233090G>A | CA337829772 | B3GALT6 | c.812G>A (p.Cys271Tyr)
| gnomAD v4 |
1 | g.1233090G>C | CA337829769 | B3GALT6 | c.812G>C (p.Cys271Ser)
| |
1 | g.1233090G>T | CA337829771 | B3GALT6 | c.812G>T (p.Cys271Phe)
| gnomAD v4 |
1 | g.1233091C>A | CA16755659 | B3GALT6 | c.813C>A (p.Cys271Ter)
| dbSNP gnomAD v4 |
1 | g.1233091C= | CA1148813776 | B3GALT6 | c.813C= (p.Cys271=)
| |
1 | g.1233091C>G | CA337829775 | B3GALT6 | c.813C>G (p.Cys271Trp)
| |
1 | g.1233091C>T | CA415761467 | B3GALT6 | c.813C>T (p.Cys271=)
| gnomAD v4 |
1 | g.1233092A= | CA1148813786 | B3GALT6 | c.814A= (p.Ser272=)
| |
1 | g.1233092A>C | CA337829777 | B3GALT6 | c.814A>C (p.Ser272Arg)
| dbSNP |
1 | g.1233092A>G | CA337829779 | B3GALT6 | c.814A>G (p.Ser272Gly)
| gnomAD v4 |
1 | g.1233092A>T | CA337829780 | B3GALT6 | c.814A>T (p.Ser272Cys)
| gnomAD v4 |
1 | g.1233093G>A | CA337829781 | B3GALT6 | c.815G>A (p.Ser272Asn)
| ClinVar dbSNP gnomAD v4 |
1 | g.1233093G>C | CA337829782 | B3GALT6 | c.815G>C (p.Ser272Thr)
| |
1 | g.1233093G>T | CA337829783 | B3GALT6 | c.815G>T (p.Ser272Ile)
| gnomAD v4 |
1 | g.1233094C>A | CA337829784 | B3GALT6 | c.816C>A (p.Ser272Arg)
| gnomAD v4 |
1 | g.1233094C= | CA1148813792 | B3GALT6 | c.816C= (p.Ser272=)
| |
1 | g.1233094C>G | CA16755667 | B3GALT6 | c.816C>G (p.Ser272Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1233094C>T | CA415761476 | B3GALT6 | c.816C>T (p.Ser272=)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.1233095A>C | CA337829786 | B3GALT6 | c.817A>C (p.Asn273His)
| |
1 | g.1233095A>G | CA337829789 | B3GALT6 | c.817A>G (p.Asn273Asp)
| |
1 | g.1233095A>T | CA337829790 | B3GALT6 | c.817A>T (p.Asn273Tyr)
| |
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 |