| X | g.120626579T>A | CA414208045 | C1GALT1C1 | c.588A>T (p.Arg196Ser)
| |
| X | g.120626579T>C | CA518448574 | C1GALT1C1 | c.588A>G (p.Arg196=)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.120626579T>G | CA414208047 | C1GALT1C1 | c.588A>C (p.Arg196Ser)
| |
| X | g.120626579T= | CA2454931008 | C1GALT1C1 | c.588A= (p.Arg196=)
| |
| X | g.120626580C>A | CA414208049 | C1GALT1C1 | c.587G>T (p.Arg196Ile)
| gnomAD v4 |
| X | g.120626580C= | CA2454931009 | C1GALT1C1 | c.587G= (p.Arg196=)
| |
| X | g.120626580C>G | CA334144941 | C1GALT1C1 | c.587G>C (p.Arg196Thr)
| dbSNP gnomAD v4 |
| X | g.120626580C>T | CA414208052 | C1GALT1C1 | c.587G>A (p.Arg196Lys)
| gnomAD v4 |
| X | g.120626581T>A | CA414208054 | C1GALT1C1 | c.586A>T (p.Arg196Ter)
| |
| X | g.120626581T>C | CA414208056 | C1GALT1C1 | c.586A>G (p.Arg196Gly)
| |
| X | g.120626581T>G | CA518448579 | C1GALT1C1 | c.586A>C (p.Arg196=)
| |
| X | g.120626582T>A | CA414208058 | C1GALT1C1 | c.585A>T (p.Lys195Asn)
| |
| X | g.120626582T>C | CA518448581 | C1GALT1C1 | c.585A>G (p.Lys195=)
| |
| X | g.120626582T>G | CA414208059 | C1GALT1C1 | c.585A>C (p.Lys195Asn)
| |
| X | g.120626583T>A | CA414208061 | C1GALT1C1 | c.584A>T (p.Lys195Ile)
| |
| X | g.120626583T>C | CA414208063 | C1GALT1C1 | c.584A>G (p.Lys195Arg)
| |
| X | g.120626583T>G | CA414208064 | C1GALT1C1 | c.584A>C (p.Lys195Thr)
| |
| X | g.120626584T>A | CA414208065 | C1GALT1C1 | c.583A>T (p.Lys195Ter)
| |
| X | g.120626584T>C | CA414208069 | C1GALT1C1 | c.583A>G (p.Lys195Glu)
| |
| X | g.120626584T>G | CA414208067 | C1GALT1C1 | c.583A>C (p.Lys195Gln)
| |
| X | g.120626585C>A | CA414208072 | C1GALT1C1 | c.582G>T (p.Met194Ile)
| COSMIC |
| X | g.120626585C>G | CA414208073 | C1GALT1C1 | c.582G>C (p.Met194Ile)
| |
| X | g.120626585C>T | CA414208075 | C1GALT1C1 | c.582G>A (p.Met194Ile)
| |
| X | g.120626586A= | CA2454931011 | C1GALT1C1 | c.581T= (p.Met194=)
| |
| X | g.120626586A>C | CA414208076 | C1GALT1C1 | c.581T>G (p.Met194Arg)
| |
| X | g.120626586A>G | CA10505953 | C1GALT1C1 | c.581T>C (p.Met194Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120626586A>T | CA414208079 | C1GALT1C1 | c.581T>A (p.Met194Lys)
| |
| X | g.120626587T>A | CA414208081 | C1GALT1C1 | c.580A>T (p.Met194Leu)
| |
| X | g.120626587T>C | CA414208082 | C1GALT1C1 | c.580A>G (p.Met194Val)
| |
| X | g.120626587T>G | CA414208084 | C1GALT1C1 | c.580A>C (p.Met194Leu)
| |
| X | g.120626588T>A | CA518448601 | C1GALT1C1 | c.579A>T (p.Ser193=)
| |
| X | g.120626588T>C | CA518448602 | C1GALT1C1 | c.579A>G (p.Ser193=)
| |
| X | g.120626588T>G | CA518448603 | C1GALT1C1 | c.579A>C (p.Ser193=)
| |
| X | g.120626589G>A | CA414208086 | C1GALT1C1 | c.578C>T (p.Ser193Leu)
| |
| X | g.120626589G>C | CA414208089 | C1GALT1C1 | c.578C>G (p.Ser193Ter)
| |
| X | g.120626589G>T | CA414208090 | C1GALT1C1 | c.578C>A (p.Ser193Ter)
| |
| X | g.120626590A= | CA2454930725 | C1GALT1C1 | c.577T= (p.Ser193=)
| |
| X | g.120626590A>C | CA414208091 | C1GALT1C1 | c.577T>G (p.Ser193Ala)
| |
| X | g.120626590A>G | CA130368 | C1GALT1C1 | c.577T>C (p.Ser193Pro)
| ClinVar dbSNP |
| X | g.120626590A>T | CA414208094 | C1GALT1C1 | c.577T>A (p.Ser193Thr)
| |
| X | g.120626591T>A | CA414208096 | C1GALT1C1 | c.576A>T (p.Glu192Asp)
| |
| X | g.120626591T>C | CA518448609 | C1GALT1C1 | c.576A>G (p.Glu192=)
| |
| X | g.120626591T>G | CA414208098 | C1GALT1C1 | c.576A>C (p.Glu192Asp)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.120626591T= | CA2454930734 | C1GALT1C1 | c.576A= (p.Glu192=)
| |
| X | g.120626592T>A | CA414208101 | C1GALT1C1 | c.575A>T (p.Glu192Val)
| |
| X | g.120626592T>C | CA414208102 | C1GALT1C1 | c.575A>G (p.Glu192Gly)
| |
| X | g.120626592T>G | CA414208104 | C1GALT1C1 | c.575A>C (p.Glu192Ala)
| |
| X | g.120626593C>A | CA414208107 | C1GALT1C1 | c.574G>T (p.Glu192Ter)
| |
| X | g.120626593C= | CA2454930739 | C1GALT1C1 | c.574G= (p.Glu192=)
| |
| X | g.120626593C>G | CA414208109 | C1GALT1C1 | c.574G>C (p.Glu192Gln)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.120626593C>T | CA414208110 | C1GALT1C1 | c.574G>A (p.Glu192Lys)
| |
| X | g.120626594T>A | CA518448618 | C1GALT1C1 | c.573A>T (p.Val191=)
| |
| X | g.120626594T>C | CA10505954 | C1GALT1C1 | c.573A>G (p.Val191=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120626594T>G | CA518448619 | C1GALT1C1 | c.573A>C (p.Val191=)
| dbSNP |
| X | g.120626594T= | CA2454930743 | C1GALT1C1 | c.573A= (p.Val191=)
| |
| X | g.120626595A>C | CA414208113 | C1GALT1C1 | c.572T>G (p.Val191Gly)
| |
| X | g.120626595A>G | CA414208114 | C1GALT1C1 | c.572T>C (p.Val191Ala)
| |
| X | g.120626595A>T | CA414208115 | C1GALT1C1 | c.572T>A (p.Val191Glu)
| |
| X | g.120626596C>A | CA414208122 | C1GALT1C1 | c.571G>T (p.Val191Leu)
| |
| X | g.120626596C>G | CA414208120 | C1GALT1C1 | c.571G>C (p.Val191Leu)
| |
| X | g.120626596C>T | CA414208118 | C1GALT1C1 | c.571G>A (p.Val191Ile)
| gnomAD v4 |
| X | g.120626597A>C | CA414208124 | C1GALT1C1 | c.570T>G (p.Ser190Arg)
| gnomAD v4 |
| X | g.120626597A>G | CA518448627 | C1GALT1C1 | c.570T>C (p.Ser190=)
| |
| X | g.120626597A>T | CA414208125 | C1GALT1C1 | c.570T>A (p.Ser190Arg)
| |
| X | g.120626598C>A | CA414208128 | C1GALT1C1 | c.569G>T (p.Ser190Ile)
| |
| X | g.120626598C>G | CA414208129 | C1GALT1C1 | c.569G>C (p.Ser190Thr)
| |
| X | g.120626598C>T | CA414208133 | C1GALT1C1 | c.569G>A (p.Ser190Asn)
| |
| X | g.120626599T>A | CA414208136 | C1GALT1C1 | c.568A>T (p.Ser190Cys)
| |
| X | g.120626599T>C | CA414208137 | C1GALT1C1 | c.568A>G (p.Ser190Gly)
| |
| X | g.120626599T>G | CA414208139 | C1GALT1C1 | c.568A>C (p.Ser190Arg)
| |
| X | g.120626600T>A | CA414208141 | C1GALT1C1 | c.567A>T (p.Leu189Phe)
| |
| X | g.120626600T>C | CA518448634 | C1GALT1C1 | c.567A>G (p.Leu189=)
| |
| X | g.120626600T>G | CA414208144 | C1GALT1C1 | c.567A>C (p.Leu189Phe)
| |
| X | g.120626601A>C | CA414208147 | C1GALT1C1 | c.566T>G (p.Leu189Ter)
| |
| X | g.120626601A>G | CA414208149 | C1GALT1C1 | c.566T>C (p.Leu189Ser)
| |
| X | g.120626601A>T | CA414208151 | C1GALT1C1 | c.566T>A (p.Leu189Ter)
| |
| X | g.120626602A>C | CA414208153 | C1GALT1C1 | c.565T>G (p.Leu189Val)
| |
| X | g.120626602A>G | CA518448640 | C1GALT1C1 | c.565T>C (p.Leu189=)
| |
| X | g.120626602A>T | CA414208155 | C1GALT1C1 | c.565T>A (p.Leu189Ile)
| |
| X | g.120626603G>A | CA518448642 | C1GALT1C1 | c.564C>T (p.Val188=)
| |
| X | g.120626603G>C | CA518448643 | C1GALT1C1 | c.564C>G (p.Val188=)
| |
| X | g.120626603G>T | CA518448644 | C1GALT1C1 | c.564C>A (p.Val188=)
| |
| X | g.120626604A>C | CA414208158 | C1GALT1C1 | c.563T>G (p.Val188Gly)
| |
| X | g.120626604A>G | CA414208160 | C1GALT1C1 | c.563T>C (p.Val188Ala)
| |
| X | g.120626604A>T | CA414208162 | C1GALT1C1 | c.563T>A (p.Val188Asp)
| |
| X | g.120626605C>A | CA414208166 | C1GALT1C1 | c.562G>T (p.Val188Phe)
| |
| X | g.120626605C>G | CA414208168 | C1GALT1C1 | c.562G>C (p.Val188Leu)
| |
| X | g.120626605C>T | CA414208170 | C1GALT1C1 | c.562G>A (p.Val188Ile)
| |
| X | g.120626606A>C | CA414208172 | C1GALT1C1 | c.561T>G (p.Ile187Met)
| |
| X | g.120626606A>G | CA518448653 | C1GALT1C1 | c.561T>C (p.Ile187=)
| |
| X | g.120626606A>T | CA518448651 | C1GALT1C1 | c.561T>A (p.Ile187=)
| |
| X | g.120626607A>C | CA414208174 | C1GALT1C1 | c.560T>G (p.Ile187Ser)
| |
| X | g.120626607A>G | CA414208177 | C1GALT1C1 | c.560T>C (p.Ile187Thr)
| |
| X | g.120626607A>T | CA414208179 | C1GALT1C1 | c.560T>A (p.Ile187Asn)
| |
| X | g.120626608T>A | CA414208180 | C1GALT1C1 | c.559A>T (p.Ile187Phe)
| |
| X | g.120626608T>C | CA414208182 | C1GALT1C1 | c.559A>G (p.Ile187Val)
| |
| X | g.120626608T>G | CA414208187 | C1GALT1C1 | c.559A>C (p.Ile187Leu)
| |
| X | g.120626609T>A | CA518448661 | C1GALT1C1 | c.558A>T (p.Gly186=)
| |
| X | g.120626609T>C | CA518448664 | C1GALT1C1 | c.558A>G (p.Gly186=)
| |
| X | g.120626609T>G | CA518448665 | C1GALT1C1 | c.558A>C (p.Gly186=)
| |
| X | g.120626610C>A | CA414208192 | C1GALT1C1 | c.557G>T (p.Gly186Val)
| |
| X | g.120626610C>G | CA414208190 | C1GALT1C1 | c.557G>C (p.Gly186Ala)
| |
| X | g.120626610C>T | CA414208189 | C1GALT1C1 | c.557G>A (p.Gly186Glu)
| |
| X | g.120626611C>A | CA414208194 | C1GALT1C1 | c.556G>T (p.Gly186Ter)
| |
| X | g.120626611C>G | CA414208196 | C1GALT1C1 | c.556G>C (p.Gly186Arg)
| |
| X | g.120626611C>T | CA414208197 | C1GALT1C1 | c.556G>A (p.Gly186Arg)
| |
| X | g.120626612T>A | CA334144951 | C1GALT1C1 | c.555A>T (p.Gly185=)
| dbSNP gnomAD v4 |
| X | g.120626612T>C | CA518448673 | C1GALT1C1 | c.555A>G (p.Gly185=)
| |
| X | g.120626612T>G | CA518448674 | C1GALT1C1 | c.555A>C (p.Gly185=)
| |
| X | g.120626612T= | CA2454930752 | C1GALT1C1 | c.555A= (p.Gly185=)
| |
| X | g.120626613C>A | CA414208200 | C1GALT1C1 | c.554G>T (p.Gly185Val)
| |
| X | g.120626613C= | CA2454930757 | C1GALT1C1 | c.554G= (p.Gly185=)
| |
| X | g.120626613C>G | CA414208202 | C1GALT1C1 | c.554G>C (p.Gly185Ala)
| |
| X | g.120626613C>T | CA414208203 | C1GALT1C1 | c.554G>A (p.Gly185Glu)
| dbSNP |
| X | g.120626614C>A | CA414208206 | C1GALT1C1 | c.553G>T (p.Gly185Ter)
| |
| X | g.120626614C>G | CA414208208 | C1GALT1C1 | c.553G>C (p.Gly185Arg)
| |
| X | g.120626614C>T | CA414208210 | C1GALT1C1 | c.553G>A (p.Gly185Arg)
| |
| X | g.120626615T>A | CA414208212 | C1GALT1C1 | c.552A>T (p.Glu184Asp)
| |
| X | g.120626615T>C | CA518448679 | C1GALT1C1 | c.552A>G (p.Glu184=)
| |
| X | g.120626615T>G | CA414208213 | C1GALT1C1 | c.552A>C (p.Glu184Asp)
| |
| X | g.120626616T>A | CA414208215 | C1GALT1C1 | c.551A>T (p.Glu184Val)
| |
| X | g.120626616T>C | CA414208217 | C1GALT1C1 | c.551A>G (p.Glu184Gly)
| |
| X | g.120626616T>G | CA414208218 | C1GALT1C1 | c.551A>C (p.Glu184Ala)
| |
| X | g.120626617C>A | CA414208223 | C1GALT1C1 | c.550G>T (p.Glu184Ter)
| |
| X | g.120626617C>G | CA414208225 | C1GALT1C1 | c.550G>C (p.Glu184Gln)
| |
| X | g.120626617C>T | CA414208221 | C1GALT1C1 | c.550G>A (p.Glu184Lys)
| |
| X | g.120626618C>A | CA414208227 | C1GALT1C1 | c.549G>T (p.Met183Ile)
| |
| X | g.120626618C>G | CA414208229 | C1GALT1C1 | c.549G>C (p.Met183Ile)
| |
| X | g.120626618C>T | CA414208231 | C1GALT1C1 | c.549G>A (p.Met183Ile)
| |
| X | g.120626619A>C | CA414208233 | C1GALT1C1 | c.548T>G (p.Met183Arg)
| |
| X | g.120626619A>G | CA414208235 | C1GALT1C1 | c.548T>C (p.Met183Thr)
| |
| X | g.120626619A>T | CA414208236 | C1GALT1C1 | c.548T>A (p.Met183Lys)
| |
| X | g.120626620T>A | CA414208237 | C1GALT1C1 | c.547A>T (p.Met183Leu)
| |
| X | g.120626620T>C | CA414208239 | C1GALT1C1 | c.547A>G (p.Met183Val)
| |
| X | g.120626620T>G | CA414208241 | C1GALT1C1 | c.547A>C (p.Met183Leu)
| |
| X | g.120626621A>C | CA518448684 | C1GALT1C1 | c.546T>G (p.Gly182=)
| |
| X | g.120626621A>G | CA518448686 | C1GALT1C1 | c.546T>C (p.Gly182=)
| |
| X | g.120626621A>T | CA518448687 | C1GALT1C1 | c.546T>A (p.Gly182=)
| |
| X | g.120626622C>A | CA414208242 | C1GALT1C1 | c.545G>T (p.Gly182Val)
| |
| X | g.120626622C= | CA2454930763 | C1GALT1C1 | c.545G= (p.Gly182=)
| |
| X | g.120626622C>G | CA414208244 | C1GALT1C1 | c.545G>C (p.Gly182Ala)
| |
| X | g.120626622C>T | CA414208246 | C1GALT1C1 | c.545G>A (p.Gly182Asp)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.120626623C>A | CA414208253 | C1GALT1C1 | c.544G>T (p.Gly182Cys)
| |
| X | g.120626623C>G | CA414208251 | C1GALT1C1 | c.544G>C (p.Gly182Arg)
| |
| X | g.120626623C>T | CA414208249 | C1GALT1C1 | c.544G>A (p.Gly182Ser)
| |
| X | g.120626624C>A | CA518448689 | C1GALT1C1 | c.543G>T (p.Val181=)
| |
| X | g.120626624C>G | CA518448691 | C1GALT1C1 | c.543G>C (p.Val181=)
| |
| X | g.120626624C>T | CA518448692 | C1GALT1C1 | c.543G>A (p.Val181=)
| |
| X | g.120626625A>C | CA414208255 | C1GALT1C1 | c.542T>G (p.Val181Gly)
| |
| X | g.120626625A>G | CA414208258 | C1GALT1C1 | c.542T>C (p.Val181Ala)
| COSMIC |
| X | g.120626625A>T | CA414208260 | C1GALT1C1 | c.542T>A (p.Val181Glu)
| |
| X | g.120626626C>A | CA414208261 | C1GALT1C1 | c.541G>T (p.Val181Leu)
| |
| X | g.120626626C>G | CA414208262 | C1GALT1C1 | c.541G>C (p.Val181Leu)
| |
| X | g.120626626C>T | CA414208264 | C1GALT1C1 | c.541G>A (p.Val181Met)
| |
| X | g.120626627A= | CA2454930767 | C1GALT1C1 | c.540T= (p.Tyr180=)
| |
| X | g.120626627A>C | CA414208267 | C1GALT1C1 | c.540T>G (p.Tyr180Ter)
| ClinVar dbSNP |
| X | g.120626627A>G | CA10505955 | C1GALT1C1 | c.540T>C (p.Tyr180=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120626627A>T | CA414208270 | C1GALT1C1 | c.540T>A (p.Tyr180Ter)
| |
| X | g.120626628T>A | CA414208272 | C1GALT1C1 | c.539A>T (p.Tyr180Phe)
| |
| X | g.120626628T>C | CA414208274 | C1GALT1C1 | c.539A>G (p.Tyr180Cys)
| |
| X | g.120626628T>G | CA414208276 | C1GALT1C1 | c.539A>C (p.Tyr180Ser)
| |
| X | g.120626629A>C | CA414208279 | C1GALT1C1 | c.538T>G (p.Tyr180Asp)
| |
| X | g.120626629A>G | CA414208283 | C1GALT1C1 | c.538T>C (p.Tyr180His)
| |
| X | g.120626629A>T | CA414208281 | C1GALT1C1 | c.538T>A (p.Tyr180Asn)
| |
| X | g.120626630T>A | CA414208285 | C1GALT1C1 | c.537A>T (p.Glu179Asp)
| |
| X | g.120626630T>C | CA518448697 | C1GALT1C1 | c.537A>G (p.Glu179=)
| |
| X | g.120626630T>G | CA414208286 | C1GALT1C1 | c.537A>C (p.Glu179Asp)
| |
| X | g.120626631T>A | CA414208287 | C1GALT1C1 | c.536A>T (p.Glu179Val)
| |
| X | g.120626631T>C | CA414208291 | C1GALT1C1 | c.536A>G (p.Glu179Gly)
| |
| X | g.120626631T>G | CA414208289 | C1GALT1C1 | c.536A>C (p.Glu179Ala)
| |
| X | g.120626632C>A | CA414208293 | C1GALT1C1 | c.535G>T (p.Glu179Ter)
| |
| X | g.120626632C>G | CA414208297 | C1GALT1C1 | c.535G>C (p.Glu179Gln)
| |
| X | g.120626632C>T | CA414208294 | C1GALT1C1 | c.535G>A (p.Glu179Lys)
| |
| X | g.120626633A>C | CA518448703 | C1GALT1C1 | c.534T>G (p.Leu178=)
| |
| X | g.120626633A>G | CA518448704 | C1GALT1C1 | c.534T>C (p.Leu178=)
| gnomAD v4 |
| X | g.120626633A>T | CA518448705 | C1GALT1C1 | c.534T>A (p.Leu178=)
| |
| X | g.120626634A= | CA2454930772 | C1GALT1C1 | c.533T= (p.Leu178=)
| |
| X | g.120626634A>C | CA414208299 | C1GALT1C1 | c.533T>G (p.Leu178Arg)
| |
| X | g.120626634A>G | CA414208303 | C1GALT1C1 | c.533T>C (p.Leu178Pro)
| |
| X | g.120626634A>T | CA414208302 | C1GALT1C1 | c.533T>A (p.Leu178His)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.120626635G>A | CA414208306 | C1GALT1C1 | c.532C>T (p.Leu178Phe)
| gnomAD v4 |
| X | g.120626635G>C | CA414208309 | C1GALT1C1 | c.532C>G (p.Leu178Val)
| |
| X | g.120626635G>T | CA414208307 | C1GALT1C1 | c.532C>A (p.Leu178Ile)
| |
| X | g.120626636G>A | CA518448707 | C1GALT1C1 | c.531C>T (p.Asp177=)
| |
| X | g.120626636G>C | CA414208311 | C1GALT1C1 | c.531C>G (p.Asp177Glu)
| |
| X | g.120626636G>T | CA414208313 | C1GALT1C1 | c.531C>A (p.Asp177Glu)
| |
| X | g.120626637T>A | CA414208315 | C1GALT1C1 | c.530A>T (p.Asp177Val)
| |
| X | g.120626637T>C | CA414208319 | C1GALT1C1 | c.530A>G (p.Asp177Gly)
| |
| X | g.120626637T>G | CA414208317 | C1GALT1C1 | c.530A>C (p.Asp177Ala)
| |
| X | g.120626638C>A | CA414208321 | C1GALT1C1 | c.529G>T (p.Asp177Tyr)
| |
| X | g.120626638C>G | CA414208323 | C1GALT1C1 | c.529G>C (p.Asp177His)
| |
| X | g.120626638C>T | CA414208325 | C1GALT1C1 | c.529G>A (p.Asp177Asn)
| |
| X | g.120626639T>A | CA518448208 | C1GALT1C1 | c.528A>T (p.Gly176=)
| |
| X | g.120626639T>C | CA518448210 | C1GALT1C1 | c.528A>G (p.Gly176=)
| |
| X | g.120626639T>G | CA518448211 | C1GALT1C1 | c.528A>C (p.Gly176=)
| |
| X | g.120626640C>A | CA414208327 | C1GALT1C1 | c.527G>T (p.Gly176Val)
| |
| X | g.120626640C= | CA2454930774 | C1GALT1C1 | c.527G= (p.Gly176=)
| |
| X | g.120626640C>G | CA414208329 | C1GALT1C1 | c.527G>C (p.Gly176Ala)
| dbSNP |
| X | g.120626640C>T | CA414208331 | C1GALT1C1 | c.527G>A (p.Gly176Glu)
| |
| X | g.120626641C>A | CA414208333 | C1GALT1C1 | c.526G>T (p.Gly176Ter)
| |
| X | g.120626641C= | CA2454930778 | C1GALT1C1 | c.526G= (p.Gly176=)
| |
| X | g.120626641C>G | CA414208335 | C1GALT1C1 | c.526G>C (p.Gly176Arg)
| |
| X | g.120626641C>T | CA414208337 | C1GALT1C1 | c.526G>A (p.Gly176Arg)
| dbSNP |
| X | g.120626642A= | CA2454930781 | C1GALT1C1 | c.525T= (p.Ser175=)
| |
| X | g.120626642A>C | CA518448219 | C1GALT1C1 | c.525T>G (p.Ser175=)
| |
| X | g.120626642A>G | CA518448221 | C1GALT1C1 | c.525T>C (p.Ser175=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120626642A>T | CA518448223 | C1GALT1C1 | c.525T>A (p.Ser175=)
| |
| X | g.120626643G>A | CA414208339 | C1GALT1C1 | c.524C>T (p.Ser175Phe)
| |
| X | g.120626643G>C | CA414208341 | C1GALT1C1 | c.524C>G (p.Ser175Cys)
| |
| X | g.120626643G>T | CA414208343 | C1GALT1C1 | c.524C>A (p.Ser175Tyr)
| |
| X | g.120626644A>C | CA414208345 | C1GALT1C1 | c.523T>G (p.Ser175Ala)
| |
| X | g.120626644A>G | CA414208349 | C1GALT1C1 | c.523T>C (p.Ser175Pro)
| |
| X | g.120626644A>T | CA414208347 | C1GALT1C1 | c.523T>A (p.Ser175Thr)
| |
| X | g.120626645T>A | CA414208351 | C1GALT1C1 | c.522A>T (p.Lys174Asn)
| |
| X | g.120626645T>C | CA518448226 | C1GALT1C1 | c.522A>G (p.Lys174=)
| |
| X | g.120626645T>G | CA414208353 | C1GALT1C1 | c.522A>C (p.Lys174Asn)
| |
| X | g.120626646T>A | CA414208355 | C1GALT1C1 | c.521A>T (p.Lys174Ile)
| |
| X | g.120626646T>C | CA414208357 | C1GALT1C1 | c.521A>G (p.Lys174Arg)
| |
| X | g.120626646T>G | CA414208359 | C1GALT1C1 | c.521A>C (p.Lys174Thr)
| |
| X | g.120626647T>A | CA414208361 | C1GALT1C1 | c.520A>T (p.Lys174Ter)
| |
| X | g.120626647T>C | CA414208363 | C1GALT1C1 | c.520A>G (p.Lys174Glu)
| |
| X | g.120626647T>G | CA414208365 | C1GALT1C1 | c.520A>C (p.Lys174Gln)
| |
| X | g.120626648T>A | CA518448229 | C1GALT1C1 | c.519A>T (p.Ile173=)
| |
| X | g.120626648T>C | CA414208367 | C1GALT1C1 | c.519A>G (p.Ile173Met)
| dbSNP |
| X | g.120626648T>G | CA518448230 | C1GALT1C1 | c.519A>C (p.Ile173=)
| |
| X | g.120626648T= | CA2454930784 | C1GALT1C1 | c.519A= (p.Ile173=)
| |
| X | g.120626649A>C | CA414208372 | C1GALT1C1 | c.518T>G (p.Ile173Arg)
| |
| X | g.120626649A>G | CA414208370 | C1GALT1C1 | c.518T>C (p.Ile173Thr)
| |
| X | g.120626649A>T | CA414208369 | C1GALT1C1 | c.518T>A (p.Ile173Lys)
| |
| X | g.120626650T>A | CA414208374 | C1GALT1C1 | c.517A>T (p.Ile173Leu)
| |
| X | g.120626650T>C | CA414208376 | C1GALT1C1 | c.517A>G (p.Ile173Val)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120626650T>G | CA414208378 | C1GALT1C1 | c.517A>C (p.Ile173Leu)
| |
| X | g.120626650T= | CA2454930793 | C1GALT1C1 | c.517A= (p.Ile173=)
| |
| X | g.120626651A>C | CA518448237 | C1GALT1C1 | c.516T>G (p.Thr172=)
| |
| X | g.120626651A>G | CA518448238 | C1GALT1C1 | c.516T>C (p.Thr172=)
| |
| X | g.120626651A>T | CA518448239 | C1GALT1C1 | c.516T>A (p.Thr172=)
| |
| X | g.120626652G>A | CA414208381 | C1GALT1C1 | c.515C>T (p.Thr172Ile)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.120626652G>C | CA334144957 | C1GALT1C1 | c.515C>G (p.Thr172Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120626652G= | CA2454930795 | C1GALT1C1 | c.515C= (p.Thr172=)
| |
| X | g.120626652G>T | CA414208383 | C1GALT1C1 | c.515C>A (p.Thr172Asn)
| |
| X | g.120626653T>A | CA414208386 | C1GALT1C1 | c.514A>T (p.Thr172Ser)
| |
| X | g.120626653T>C | CA414208388 | C1GALT1C1 | c.514A>G (p.Thr172Ala)
| |
| X | g.120626653T>G | CA414208390 | C1GALT1C1 | c.514A>C (p.Thr172Pro)
| |
| X | g.120626654G>A | CA518448241 | C1GALT1C1 | c.513C>T (p.His171=)
| |
| X | g.120626654G>C | CA414208392 | C1GALT1C1 | c.513C>G (p.His171Gln)
| |
| X | g.120626654G= | CA2454930798 | C1GALT1C1 | c.513C= (p.His171=)
| |
| X | g.120626654G>T | CA10505956 | C1GALT1C1 | c.513C>A (p.His171Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120626655T>A | CA414208399 | C1GALT1C1 | c.512A>T (p.His171Leu)
| |
| X | g.120626655T>C | CA414208397 | C1GALT1C1 | c.512A>G (p.His171Arg)
| gnomAD v4 |
| X | g.120626655T>G | CA414208395 | C1GALT1C1 | c.512A>C (p.His171Pro)
| |
| X | g.120626656G>A | CA414208400 | C1GALT1C1 | c.511C>T (p.His171Tyr)
| |
| X | g.120626656G>C | CA414208402 | C1GALT1C1 | c.511C>G (p.His171Asp)
| |
| X | g.120626656G>T | CA414208404 | C1GALT1C1 | c.511C>A (p.His171Asn)
| |
| X | g.120626657G>A | CA518448245 | C1GALT1C1 | c.510C>T (p.Gly170=)
| gnomAD v4 |
| X | g.120626657G>C | CA518448246 | C1GALT1C1 | c.510C>G (p.Gly170=)
| |
| X | g.120626657G>T | CA518448248 | C1GALT1C1 | c.510C>A (p.Gly170=)
| |
| X | g.120626658C>A | CA414208407 | C1GALT1C1 | c.509G>T (p.Gly170Val)
| |
| X | g.120626658C>G | CA414208408 | C1GALT1C1 | c.509G>C (p.Gly170Ala)
| |
| X | g.120626658C>T | CA414208410 | C1GALT1C1 | c.509G>A (p.Gly170Asp)
| |
| X | g.120626659C>A | CA414208411 | C1GALT1C1 | c.508G>T (p.Gly170Cys)
| |
| X | g.120626659C>G | CA414208413 | C1GALT1C1 | c.508G>C (p.Gly170Arg)
| |
| X | g.120626659C>T | CA414208414 | C1GALT1C1 | c.508G>A (p.Gly170Ser)
| COSMIC |
| X | g.120626660T>A | CA518448253 | C1GALT1C1 | c.507A>T (p.Leu169=)
| |
| X | g.120626660T>C | CA518448258 | C1GALT1C1 | c.507A>G (p.Leu169=)
| |
| X | g.120626660T>G | CA518448255 | C1GALT1C1 | c.507A>C (p.Leu169=)
| |
| X | g.120626661A>C | CA414208417 | C1GALT1C1 | c.506T>G (p.Leu169Arg)
| |
| X | g.120626661A>G | CA414208419 | C1GALT1C1 | c.506T>C (p.Leu169Pro)
| COSMIC |
| X | g.120626661A>T | CA414208420 | C1GALT1C1 | c.506T>A (p.Leu169Gln)
| |
| X | g.120626662G>A | CA518448261 | C1GALT1C1 | c.505C>T (p.Leu169=)
| COSMIC |
| X | g.120626662G>C | CA10505957 | C1GALT1C1 | c.505C>G (p.Leu169Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120626662G= | CA2454930803 | C1GALT1C1 | c.505C= (p.Leu169=)
| |
| X | g.120626662G>T | CA414208422 | C1GALT1C1 | c.505C>A (p.Leu169Ile)
| |
| X | g.120626663A>C | CA414208424 | C1GALT1C1 | c.504T>G (p.Tyr168Ter)
| |
| X | g.120626663A>G | CA518448263 | C1GALT1C1 | c.504T>C (p.Tyr168=)
| |
| X | g.120626663A>T | CA414208426 | C1GALT1C1 | c.504T>A (p.Tyr168Ter)
| |
| X | g.120626664T>A | CA414208429 | C1GALT1C1 | c.503A>T (p.Tyr168Phe)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.120626664T>C | CA414208430 | C1GALT1C1 | c.503A>G (p.Tyr168Cys)
| |
| X | g.120626664T>G | CA414208431 | C1GALT1C1 | c.503A>C (p.Tyr168Ser)
| |
| X | g.120626664T= | CA2454930806 | C1GALT1C1 | c.503A= (p.Tyr168=)
| |
| X | g.120626665A>C | CA414208434 | C1GALT1C1 | c.502T>G (p.Tyr168Asp)
| |
| X | g.120626665A>G | CA414208436 | C1GALT1C1 | c.502T>C (p.Tyr168His)
| |
| X | g.120626665A>T | CA414208438 | C1GALT1C1 | c.502T>A (p.Tyr168Asn)
| |
| X | g.120626666G>A | CA10505958 | C1GALT1C1 | c.501C>T (p.Phe167=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120626666G>C | CA414208439 | C1GALT1C1 | c.501C>G (p.Phe167Leu)
| |
| X | g.120626666G= | CA2454930808 | C1GALT1C1 | c.501C= (p.Phe167=)
| |
| X | g.120626666G>T | CA414208440 | C1GALT1C1 | c.501C>A (p.Phe167Leu)
| |
| X | g.120626667A>C | CA414208443 | C1GALT1C1 | c.500T>G (p.Phe167Cys)
| |
| X | g.120626667A>G | CA414208445 | C1GALT1C1 | c.500T>C (p.Phe167Ser)
| |
| X | g.120626667A>T | CA414208447 | C1GALT1C1 | c.500T>A (p.Phe167Tyr)
| |
| X | g.120626668A= | CA2454930810 | C1GALT1C1 | c.499T= (p.Phe167=)
| |
| X | g.120626668A>C | CA414208453 | C1GALT1C1 | c.499T>G (p.Phe167Val)
| |
| X | g.120626668A>G | CA414208449 | C1GALT1C1 | c.499T>C (p.Phe167Leu)
| |
| X | g.120626668A>T | CA414208451 | C1GALT1C1 | c.499T>A (p.Phe167Ile)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.120626669A>C | CA518448274 | C1GALT1C1 | c.498T>G (p.Pro166=)
| |
| X | g.120626669A>G | CA518448273 | C1GALT1C1 | c.498T>C (p.Pro166=)
| |
| X | g.120626669A>T | CA518448272 | C1GALT1C1 | c.498T>A (p.Pro166=)
| |
| X | g.120626670G>A | CA414208455 | C1GALT1C1 | c.497C>T (p.Pro166Leu)
| |
| X | g.120626670G>C | CA414208457 | C1GALT1C1 | c.497C>G (p.Pro166Arg)
| |
| X | g.120626670G>T | CA414208458 | C1GALT1C1 | c.497C>A (p.Pro166His)
| |
| X | g.120626671G>A | CA414208461 | C1GALT1C1 | c.496C>T (p.Pro166Ser)
| |
| X | g.120626671G>C | CA414208462 | C1GALT1C1 | c.496C>G (p.Pro166Ala)
| |
| X | g.120626671G= | CA2454930813 | C1GALT1C1 | c.496C= (p.Pro166=)
| |
| X | g.120626671G>T | CA414208464 | C1GALT1C1 | c.496C>A (p.Pro166Thr)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.120626672C>A | CA414208466 | C1GALT1C1 | c.495G>T (p.Gln165His)
| |
| X | g.120626672C= | CA2454930815 | C1GALT1C1 | c.495G= (p.Gln165=)
| |
| X | g.120626672C>G | CA414208467 | C1GALT1C1 | c.495G>C (p.Gln165His)
| |
| X | g.120626672C>T | CA518448280 | C1GALT1C1 | c.495G>A (p.Gln165=)
| dbSNP gnomAD v4 |
| X | g.120626673T>A | CA414208469 | C1GALT1C1 | c.494A>T (p.Gln165Leu)
| |
| X | g.120626673T>C | CA414208471 | C1GALT1C1 | c.494A>G (p.Gln165Arg)
| |
| X | g.120626673T>G | CA414208473 | C1GALT1C1 | c.494A>C (p.Gln165Pro)
| |
| X | g.120626674G>A | CA414208479 | C1GALT1C1 | c.493C>T (p.Gln165Ter)
| |
| X | g.120626674G>C | CA414208477 | C1GALT1C1 | c.493C>G (p.Gln165Glu)
| |
| X | g.120626674G>T | CA414208475 | C1GALT1C1 | c.493C>A (p.Gln165Lys)
| |
| X | g.120626675T>A | CA518448283 | C1GALT1C1 | c.492A>T (p.Ser164=)
| |
| X | g.120626675T>C | CA518448284 | C1GALT1C1 | c.492A>G (p.Ser164=)
| |
| X | g.120626675T>G | CA518448285 | C1GALT1C1 | c.492A>C (p.Ser164=)
| |
| X | g.120626676G>A | CA414208481 | C1GALT1C1 | c.491C>T (p.Ser164Leu)
| |
| X | g.120626676G>C | CA414208483 | C1GALT1C1 | c.491C>G (p.Ser164Ter)
| |
| X | g.120626676G>T | CA414208485 | C1GALT1C1 | c.491C>A (p.Ser164Ter)
| |
| X | g.120626677A>C | CA414208487 | C1GALT1C1 | c.490T>G (p.Ser164Ala)
| |
| X | g.120626677A>G | CA414208489 | C1GALT1C1 | c.490T>C (p.Ser164Pro)
| |
| X | g.120626677A>T | CA414208491 | C1GALT1C1 | c.490T>A (p.Ser164Thr)
| |
| X | g.120626678T>A | CA518448289 | C1GALT1C1 | c.489A>T (p.Pro163=)
| |
| X | g.120626678T>C | CA518448291 | C1GALT1C1 | c.489A>G (p.Pro163=)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.120626678T>G | CA518448292 | C1GALT1C1 | c.489A>C (p.Pro163=)
| |
| X | g.120626678T= | CA2454930817 | C1GALT1C1 | c.489A= (p.Pro163=)
| |
| X | g.120626679G>A | CA414208497 | C1GALT1C1 | c.488C>T (p.Pro163Leu)
| |
| X | g.120626679G>C | CA414208493 | C1GALT1C1 | c.488C>G (p.Pro163Arg)
| |
| X | g.120626679G>T | CA414208495 | C1GALT1C1 | c.488C>A (p.Pro163Gln)
| |
