Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.45806301_45806304delinsCCTT | CA1968693103 | SLC35C1 | c.461_464delinsCCTT (p.Ser154=) c.500_503delinsCCTT (p.Ser167=) | |
11 | g.45806304_45806306del | CA270628 | SLC35C1 | c.464_466del (p.Phe155del) c.503_505del (p.Phe168del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.45806304T>A | CA380203106 | SLC35C1 | c.464T>A (p.Phe155Tyr) c.503T>A (p.Phe168Tyr) | |
11 | g.45806304T>C | CA380203107 | SLC35C1 | c.464T>C (p.Phe155Ser) c.503T>C (p.Phe168Ser) | dbSNP |
11 | g.45806304T>G | CA380203108 | SLC35C1 | c.464T>G (p.Phe155Cys) c.503T>G (p.Phe168Cys) | gnomAD v4 |
11 | g.45806304T= | CA1968693105 | SLC35C1 | c.464T= (p.Phe155=) c.503T= (p.Phe168=) | |
11 | g.45806305C>A | CA380203109 | SLC35C1 | c.465C>A (p.Phe155Leu) c.504C>A (p.Phe168Leu) | |
11 | g.45806305C= | CA1968693106 | SLC35C1 | c.465C= (p.Phe155=) c.504C= (p.Phe168=) | |
11 | g.45806305C>G | CA380203110 | SLC35C1 | c.465C>G (p.Phe155Leu) c.504C>G (p.Phe168Leu) | |
11 | g.45806305C>T | CA221585560 | SLC35C1 | c.465C>T (p.Phe155=) c.504C>T (p.Phe168=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.45806306T>A | CA380203113 | SLC35C1 | c.466T>A (p.Tyr156Asn) c.505T>A (p.Tyr169Asn) | |
11 | g.45806306T>C | CA380203111 | SLC35C1 | c.466T>C (p.Tyr156His) c.505T>C (p.Tyr169His) | |
11 | g.45806306T>G | CA380203112 | SLC35C1 | c.466T>G (p.Tyr156Asp) c.505T>G (p.Tyr169Asp) | |
11 | g.45806307A= | CA1968693107 | SLC35C1 | c.467A= (p.Tyr156=) c.506A= (p.Tyr169=) | |
11 | g.45806307A>C | CA380203114 | SLC35C1 | c.467A>C (p.Tyr156Ser) c.506A>C (p.Tyr169Ser) | |
11 | g.45806307A>G | CA5958255 | SLC35C1 | c.467A>G (p.Tyr156Cys) c.506A>G (p.Tyr169Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.45806307A>T | CA380203115 | SLC35C1 | c.467A>T (p.Tyr156Phe) c.506A>T (p.Tyr169Phe) | |
11 | g.45806308T>A | CA380203116 | SLC35C1 | c.468T>A (p.Tyr156Ter) c.507T>A (p.Tyr169Ter) | |
11 | g.45806308T>C | CA474036813 | SLC35C1 | c.468T>C (p.Tyr156=) c.507T>C (p.Tyr169=) | |
11 | g.45806308T>G | CA380203117 | SLC35C1 | c.468T>G (p.Tyr156Ter) c.507T>G (p.Tyr169Ter) | |
11 | g.45806309G>A | CA380203118 | SLC35C1 | c.469G>A (p.Ala157Thr) c.508G>A (p.Ala170Thr) | |
11 | g.45806309G>C | CA380203119 | SLC35C1 | c.469G>C (p.Ala157Pro) c.508G>C (p.Ala170Pro) | |
11 | g.45806309G>T | CA380203120 | SLC35C1 | c.469G>T (p.Ala157Ser) c.508G>T (p.Ala170Ser) | gnomAD v4 |
11 | g.45806310C>A | CA380203121 | SLC35C1 | c.470C>A (p.Ala157Asp) c.509C>A (p.Ala170Asp) | gnomAD v4 COSMIC |
11 | g.45806310C>G | CA380203122 | SLC35C1 | c.470C>G (p.Ala157Gly) c.509C>G (p.Ala170Gly) | |
11 | g.45806310C>T | CA380203123 | SLC35C1 | c.470C>T (p.Ala157Val) c.509C>T (p.Ala170Val) | |
11 | g.45806311C>A | CA474036816 | SLC35C1 | c.471C>A (p.Ala157=) c.510C>A (p.Ala170=) | |
11 | g.45806311C= | CA1968693108 | SLC35C1 | c.471C= (p.Ala157=) c.510C= (p.Ala170=) | |
11 | g.45806311C>G | CA474036818 | SLC35C1 | c.471C>G (p.Ala157=) c.510C>G (p.Ala170=) | |
11 | g.45806311C>T | CA474036820 | SLC35C1 | c.471C>T (p.Ala157=) c.510C>T (p.Ala170=) | dbSNP gnomAD v4 |
11 | g.45806312C>A | CA380203124 | SLC35C1 | c.472C>A (p.Leu158Met) c.511C>A (p.Leu171Met) | |
11 | g.45806312C= | CA1968693109 | SLC35C1 | c.472C= (p.Leu158=) c.511C= (p.Leu171=) | |
11 | g.45806312C>G | CA380203125 | SLC35C1 | c.472C>G (p.Leu158Val) c.511C>G (p.Leu171Val) | |
11 | g.45806312C>T | CA474036825 | SLC35C1 | c.472C>T (p.Leu158=) c.511C>T (p.Leu171=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.45806313T>A | CA380203128 | SLC35C1 | c.473T>A (p.Leu158Gln) c.512T>A (p.Leu171Gln) | |
11 | g.45806313T>C | CA380203126 | SLC35C1 | c.473T>C (p.Leu158Pro) c.512T>C (p.Leu171Pro) | |
11 | g.45806313T>G | CA380203127 | SLC35C1 | c.473T>G (p.Leu158Arg) c.512T>G (p.Leu171Arg) | |
11 | g.45806314G>A | CA5958256 | SLC35C1 | c.474G>A (p.Leu158=) c.513G>A (p.Leu171=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.45806314G>C | CA473858074 | SLC35C1 | c.474G>C (p.Leu158=) c.513G>C (p.Leu171=) | |
11 | g.45806314G= | CA1968693110 | SLC35C1 | c.474G= (p.Leu158=) c.513G= (p.Leu171=) | |
11 | g.45806314G>T | CA473858072 | SLC35C1 | c.474G>T (p.Leu158=) c.513G>T (p.Leu171=) | gnomAD v4 |
11 | g.45806315C>A | CA380203490 | SLC35C1 | c.475C>A (p.Leu159Ile) c.514C>A (p.Leu172Ile) | |
11 | g.45806315C>G | CA380203491 | SLC35C1 | c.475C>G (p.Leu159Val) c.514C>G (p.Leu172Val) | |
11 | g.45806315C>T | CA380203494 | SLC35C1 | c.475C>T (p.Leu159Phe) c.514C>T (p.Leu172Phe) | |
11 | g.45806316T>A | CA380203497 | SLC35C1 | c.476T>A (p.Leu159His) c.515T>A (p.Leu172His) | |
11 | g.45806316T>C | CA380203500 | SLC35C1 | c.476T>C (p.Leu159Pro) c.515T>C (p.Leu172Pro) | |
11 | g.45806316T>G | CA380203521 | SLC35C1 | c.476T>G (p.Leu159Arg) c.515T>G (p.Leu172Arg) | |
11 | g.45806317C>A | CA473858080 | SLC35C1 | c.477C>A (p.Leu159=) c.516C>A (p.Leu172=) | COSMIC |
11 | g.45806317C= | CA1968693111 | SLC35C1 | c.477C= (p.Leu159=) c.516C= (p.Leu172=) | |
11 | g.45806317C>G | CA473858079 | SLC35C1 | c.477C>G (p.Leu159=) c.516C>G (p.Leu172=) |