Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.120626549C>A | CA414207915 | C1GALT1C1 | c.618G>T (p.Lys206Asn) | |
X | g.120626549C= | CA2454930993 | C1GALT1C1 | c.618G= (p.Lys206=) | |
X | g.120626549C>G | CA414207916 | C1GALT1C1 | c.618G>C (p.Lys206Asn) | |
X | g.120626549C>T | CA10505946 | C1GALT1C1 | c.618G>A (p.Lys206=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.120626550T>A | CA414207924 | C1GALT1C1 | c.617A>T (p.Lys206Met) | |
X | g.120626550T>C | CA414207922 | C1GALT1C1 | c.617A>G (p.Lys206Arg) | |
X | g.120626550T>G | CA414207920 | C1GALT1C1 | c.617A>C (p.Lys206Thr) | |
X | g.120626551T>A | CA414207926 | C1GALT1C1 | c.616A>T (p.Lys206Ter) | |
X | g.120626551T>C | CA414207930 | C1GALT1C1 | c.616A>G (p.Lys206Glu) | gnomAD v4 |
X | g.120626551T>G | CA414207928 | C1GALT1C1 | c.616A>C (p.Lys206Gln) | |
X | g.120626552T>A | CA414207932 | C1GALT1C1 | c.615A>T (p.Glu205Asp) | |
X | g.120626552T>C | CA518448532 | C1GALT1C1 | c.615A>G (p.Glu205=) | gnomAD v4 |
X | g.120626552T>G | CA414207934 | C1GALT1C1 | c.615A>C (p.Glu205Asp) | |
X | g.120626553T>A | CA414207936 | C1GALT1C1 | c.614A>T (p.Glu205Val) | |
X | g.120626553T>C | CA414207938 | C1GALT1C1 | c.614A>G (p.Glu205Gly) | |
X | g.120626553T>G | CA414207939 | C1GALT1C1 | c.614A>C (p.Glu205Ala) | |
X | g.120626554C>A | CA414207940 | C1GALT1C1 | c.613G>T (p.Glu205Ter) | |
X | g.120626554C>G | CA414207941 | C1GALT1C1 | c.613G>C (p.Glu205Gln) | |
X | g.120626554C>T | CA414207942 | C1GALT1C1 | c.613G>A (p.Glu205Lys) | |
X | g.120626555T>A | CA518448538 | C1GALT1C1 | c.612A>T (p.Pro204=) | |
X | g.120626555T>C | CA518448536 | C1GALT1C1 | c.612A>G (p.Pro204=) | |
X | g.120626555T>G | CA518448537 | C1GALT1C1 | c.612A>C (p.Pro204=) | |
X | g.120626556G>A | CA414207943 | C1GALT1C1 | c.611C>T (p.Pro204Leu) | gnomAD v4 |
X | g.120626556G>C | CA414207944 | C1GALT1C1 | c.611C>G (p.Pro204Arg) | |
X | g.120626556G>T | CA414207945 | C1GALT1C1 | c.611C>A (p.Pro204Gln) | |
X | g.120626557G>A | CA414207949 | C1GALT1C1 | c.610C>T (p.Pro204Ser) | |
X | g.120626557G>C | CA414207947 | C1GALT1C1 | c.610C>G (p.Pro204Ala) | |
X | g.120626557G>T | CA414207946 | C1GALT1C1 | c.610C>A (p.Pro204Thr) | |
X | g.120626558G>A | CA518448541 | C1GALT1C1 | c.609C>T (p.Ile203=) | |
X | g.120626558G>C | CA414207950 | C1GALT1C1 | c.609C>G (p.Ile203Met) | |
X | g.120626558G>T | CA518448542 | C1GALT1C1 | c.609C>A (p.Ile203=) | |
X | g.120626559A>C | CA414207952 | C1GALT1C1 | c.608T>G (p.Ile203Ser) | |
X | g.120626559A>G | CA414207953 | C1GALT1C1 | c.608T>C (p.Ile203Thr) | |
X | g.120626559A>T | CA414207955 | C1GALT1C1 | c.608T>A (p.Ile203Asn) | |
X | g.120626560T>A | CA414207958 | C1GALT1C1 | c.607A>T (p.Ile203Phe) | |
X | g.120626560T>C | CA10505947 | C1GALT1C1 | c.607A>G (p.Ile203Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.120626560T>G | CA414207964 | C1GALT1C1 | c.607A>C (p.Ile203Leu) | |
X | g.120626560T= | CA2454930994 | C1GALT1C1 | c.607A= (p.Ile203=) | |
X | g.120626561A= | CA2454930996 | C1GALT1C1 | c.606T= (p.Asn202=) | |
X | g.120626561A>C | CA414207966 | C1GALT1C1 | c.606T>G (p.Asn202Lys) | |
X | g.120626561A>G | CA518448547 | C1GALT1C1 | c.606T>C (p.Asn202=) | gnomAD v4 |
X | g.120626561A>T | CA10505948 | C1GALT1C1 | c.606T>A (p.Asn202Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.120626562T>A | CA414207969 | C1GALT1C1 | c.605A>T (p.Asn202Ile) | |
X | g.120626562T>C | CA10505949 | C1GALT1C1 | c.605A>G (p.Asn202Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.120626562T>G | CA414207973 | C1GALT1C1 | c.605A>C (p.Asn202Thr) | |
X | g.120626562T= | CA2454930997 | C1GALT1C1 | c.605A= (p.Asn202=) | |
X | g.120626563T>A | CA414207978 | C1GALT1C1 | c.604A>T (p.Asn202Tyr) | |
X | g.120626563T>C | CA414207977 | C1GALT1C1 | c.604A>G (p.Asn202Asp) | |
X | g.120626563T>G | CA414207975 | C1GALT1C1 | c.604A>C (p.Asn202His) | |
X | g.120626564G>A | CA518448549 | C1GALT1C1 | c.603C>T (p.Leu201=) | |
X | g.120626564G>C | CA518448551 | C1GALT1C1 | c.603C>G (p.Leu201=) | |
X | g.120626564G>T | CA518448552 | C1GALT1C1 | c.603C>A (p.Leu201=) | |
X | g.120626565A>C | CA414207980 | C1GALT1C1 | c.602T>G (p.Leu201Arg) | |
X | g.120626565A>G | CA414207982 | C1GALT1C1 | c.602T>C (p.Leu201Pro) | |
X | g.120626565A>T | CA414207984 | C1GALT1C1 | c.602T>A (p.Leu201His) | |
X | g.120626566G>A | CA414207985 | C1GALT1C1 | c.601C>T (p.Leu201Phe) | dbSNP gnomAD v2 gnomAD v4 |
X | g.120626566G>C | CA414207987 | C1GALT1C1 | c.601C>G (p.Leu201Val) | |
X | g.120626566G= | CA2454930998 | C1GALT1C1 | c.601C= (p.Leu201=) | |
X | g.120626566G>T | CA414207989 | C1GALT1C1 | c.601C>A (p.Leu201Ile) | |
X | g.120626567A>C | CA518448558 | C1GALT1C1 | c.600T>G (p.Leu200=) | |
X | g.120626567A>G | CA518448559 | C1GALT1C1 | c.600T>C (p.Leu200=) | |
X | g.120626567A>T | CA518448560 | C1GALT1C1 | c.600T>A (p.Leu200=) | |
X | g.120626568A>C | CA414207995 | C1GALT1C1 | c.599T>G (p.Leu200Arg) | |
X | g.120626568A>G | CA414207991 | C1GALT1C1 | c.599T>C (p.Leu200Pro) | |
X | g.120626568A>T | CA414207993 | C1GALT1C1 | c.599T>A (p.Leu200His) | |
X | g.120626569G>A | CA414207996 | C1GALT1C1 | c.598C>T (p.Leu200Phe) | |
X | g.120626569G>C | CA414207998 | C1GALT1C1 | c.598C>G (p.Leu200Val) | |
X | g.120626569G>T | CA414208000 | C1GALT1C1 | c.598C>A (p.Leu200Ile) | |
X | g.120626570G>A | CA518448561 | C1GALT1C1 | c.597C>T (p.Ser199=) | |
X | g.120626570G>C | CA10505950 | C1GALT1C1 | c.597C>G (p.Ser199Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.120626570G= | CA2454931000 | C1GALT1C1 | c.597C= (p.Ser199=) | |
X | g.120626570G>T | CA414208003 | C1GALT1C1 | c.597C>A (p.Ser199Arg) | |
X | g.120626571C>A | CA414208005 | C1GALT1C1 | c.596G>T (p.Ser199Ile) | |
X | g.120626571C>G | CA414208009 | C1GALT1C1 | c.596G>C (p.Ser199Thr) | |
X | g.120626571C>T | CA414208007 | C1GALT1C1 | c.596G>A (p.Ser199Asn) | |
X | g.120626572T>A | CA414208011 | C1GALT1C1 | c.595A>T (p.Ser199Cys) | |
X | g.120626572T>C | CA414208014 | C1GALT1C1 | c.595A>G (p.Ser199Gly) | gnomAD v4 |
X | g.120626572T>G | CA414208015 | C1GALT1C1 | c.595A>C (p.Ser199Arg) | |
X | g.120626573G>A | CA10505951 | C1GALT1C1 | c.594C>T (p.Asn198=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.120626573G>C | CA334144935 | C1GALT1C1 | c.594C>G (p.Asn198Lys) | dbSNP |
X | g.120626573G= | CA2454931002 | C1GALT1C1 | c.594C= (p.Asn198=) | |
X | g.120626573G>T | CA414208019 | C1GALT1C1 | c.594C>A (p.Asn198Lys) | |
X | g.120626574T>A | CA414208021 | C1GALT1C1 | c.593A>T (p.Asn198Ile) | |
X | g.120626574T>C | CA414208023 | C1GALT1C1 | c.593A>G (p.Asn198Ser) | COSMIC |
X | g.120626574T>G | CA414208025 | C1GALT1C1 | c.593A>C (p.Asn198Thr) | |
X | g.120626575_120626576insTTT | CA1136816999 | C1GALT1C1 | c.593_594insAAA (p.Leu197_Asn198insLys) | dbSNP gnomAD v3 gnomAD v4 |
X | g.120626575T>A | CA414208027 | C1GALT1C1 | c.592A>T (p.Asn198Tyr) | |
X | g.120626575T>C | CA414208029 | C1GALT1C1 | c.592A>G (p.Asn198Asp) | |
X | g.120626575T>G | CA414208030 | C1GALT1C1 | c.592A>C (p.Asn198His) | |
X | g.120626576A= | CA2454931004 | C1GALT1C1 | c.591T= (p.Leu197=) | |
X | g.120626576A>C | CA518448565 | C1GALT1C1 | c.591T>G (p.Leu197=) | |
X | g.120626576A>G | CA10505952 | C1GALT1C1 | c.591T>C (p.Leu197=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.120626576A>T | CA518448566 | C1GALT1C1 | c.591T>A (p.Leu197=) | |
X | g.120626577A= | CA2454931006 | C1GALT1C1 | c.590T= (p.Leu197=) | |
X | g.120626577A>C | CA414208035 | C1GALT1C1 | c.590T>G (p.Leu197Arg) | |
X | g.120626577A>G | CA414208033 | C1GALT1C1 | c.590T>C (p.Leu197Pro) | |
X | g.120626577A>T | CA414208036 | C1GALT1C1 | c.590T>A (p.Leu197His) | dbSNP |
X | g.120626578G>A | CA414208039 | C1GALT1C1 | c.589C>T (p.Leu197Phe) | |
X | g.120626578G>C | CA414208041 | C1GALT1C1 | c.589C>G (p.Leu197Val) | |
X | g.120626578G>T | CA414208043 | C1GALT1C1 | c.589C>A (p.Leu197Ile) | |
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) |