Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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.45806308dup | CA2842786559 | SLC35C1 | c.468dup (p.Ala157CysfsTer?) c.507dup (p.Ala170CysfsTer?) | |
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.45806312del | CA2838523884 | SLC35C1 | c.472del (p.Leu158CysfsTer?) c.511del (p.Leu171CysfsTer?) c.511del (p.Leu171CysfsTer18) | |
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=) | |
11 | g.45806317C>T | CA473858077 | SLC35C1 | c.477C>T (p.Leu159=) c.516C>T (p.Leu172=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.45806318A= | CA1968693112 | SLC35C1 | c.478A= (p.Thr160=) c.517A= (p.Thr173=) | |
11 | g.45806318A>C | CA380203523 | SLC35C1 | c.478A>C (p.Thr160Pro) c.517A>C (p.Thr173Pro) | dbSNP |
11 | g.45806318A>G | CA380203524 | SLC35C1 | c.478A>G (p.Thr160Ala) c.517A>G (p.Thr173Ala) | |
11 | g.45806318A>T | CA380203527 | SLC35C1 | c.478A>T (p.Thr160Ser) c.517A>T (p.Thr173Ser) | |
11 | g.45806319C>A | CA380203532 | SLC35C1 | c.479C>A (p.Thr160Asn) c.518C>A (p.Thr173Asn) | |
11 | g.45806319C>G | CA380203533 | SLC35C1 | c.479C>G (p.Thr160Ser) c.518C>G (p.Thr173Ser) | |
11 | g.45806319C>T | CA380203535 | SLC35C1 | c.479C>T (p.Thr160Ile) c.518C>T (p.Thr173Ile) | gnomAD v4 |
11 | g.45806320C>A | CA473858083 | SLC35C1 | c.480C>A (p.Thr160=) c.519C>A (p.Thr173=) | |
11 | g.45806320C= | CA1968693113 | SLC35C1 | c.480C= (p.Thr160=) c.519C= (p.Thr173=) | |
11 | g.45806320C>G | CA221585599 | SLC35C1 | c.480C>G (p.Thr160=) c.519C>G (p.Thr173=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.45806320C>T | CA473858084 | SLC35C1 | c.480C>T (p.Thr160=) c.519C>T (p.Thr173=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.45806321T>A | CA380203552 | SLC35C1 | c.481T>A (p.Cys161Ser) c.520T>A (p.Cys174Ser) | |
11 | g.45806321T>C | CA380203539 | SLC35C1 | c.481T>C (p.Cys161Arg) c.520T>C (p.Cys174Arg) | |
11 | g.45806321T>G | CA380203550 | SLC35C1 | c.481T>G (p.Cys161Gly) c.520T>G (p.Cys174Gly) | COSMIC |
11 | g.45806322G>A | CA380203555 | SLC35C1 | c.482G>A (p.Cys161Tyr) c.521G>A (p.Cys174Tyr) | |
11 | g.45806322G>C | CA380203559 | SLC35C1 | c.482G>C (p.Cys161Ser) c.521G>C (p.Cys174Ser) | |
11 | g.45806322G>T | CA380203561 | SLC35C1 | c.482G>T (p.Cys161Phe) c.521G>T (p.Cys174Phe) | gnomAD v4 |
11 | g.45806323C>A | CA380203563 | SLC35C1 | c.483C>A (p.Cys161Ter) c.522C>A (p.Cys174Ter) | |
11 | g.45806323C= | CA1968693114 | SLC35C1 | c.483C= (p.Cys161=) c.522C= (p.Cys174=) | |
11 | g.45806323C>G | CA380203567 | SLC35C1 | c.483C>G (p.Cys161Trp) c.522C>G (p.Cys174Trp) | |
11 | g.45806323C>T | CA5958257 | SLC35C1 | c.483C>T (p.Cys161=) c.522C>T (p.Cys174=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.45806324G>A | CA380203581 | SLC35C1 | c.484G>A (p.Gly162Ser) c.523G>A (p.Gly175Ser) | gnomAD v4 |
11 | g.45806324G>C | CA380203583 | SLC35C1 | c.484G>C (p.Gly162Arg) c.523G>C (p.Gly175Arg) | |
11 | g.45806324G= | CA1968693115 | SLC35C1 | c.484G= (p.Gly162=) c.523G= (p.Gly175=) | |
11 | g.45806324G>T | CA5958258 | SLC35C1 | c.484G>T (p.Gly162Cys) c.523G>T (p.Gly175Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.45806325G>A | CA380203588 | SLC35C1 | c.485G>A (p.Gly162Asp) c.524G>A (p.Gly175Asp) | gnomAD v4 |
11 | g.45806325G>C | CA380203591 | SLC35C1 | c.485G>C (p.Gly162Ala) c.524G>C (p.Gly175Ala) | |
11 | g.45806325G= | CA1968693116 | SLC35C1 | c.485G= (p.Gly162=) c.524G= (p.Gly175=) | |
11 | g.45806325G>T | CA380203593 | SLC35C1 | c.485G>T (p.Gly162Val) c.524G>T (p.Gly175Val) | dbSNP |
11 | g.45806326T>A | CA473858087 | SLC35C1 | c.486T>A (p.Gly162=) c.525T>A (p.Gly175=) | |
11 | g.45806326T>C | CA473858088 | SLC35C1 | c.486T>C (p.Gly162=) c.525T>C (p.Gly175=) | dbSNP |
11 | g.45806326T>G | CA473858089 | SLC35C1 | c.486T>G (p.Gly162=) c.525T>G (p.Gly175=) | gnomAD v4 |
11 | g.45806327A= | CA1968693117 | SLC35C1 | c.487A= (p.Ile163=) c.526A= (p.Ile176=) | |
11 | g.45806327A>C | CA380203596 | SLC35C1 | c.487A>C (p.Ile163Leu) c.526A>C (p.Ile176Leu) | |
11 | g.45806327A>G | CA380203608 | SLC35C1 | c.487A>G (p.Ile163Val) c.526A>G (p.Ile176Val) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.45806327A>T | CA380203600 | SLC35C1 | c.487A>T (p.Ile163Phe) c.526A>T (p.Ile176Phe) | |
11 | g.45806333_45806335del | CA2574805526 | SLC35C1 | c.493_495del (p.Ile165del) c.532_534del (p.Ile178del) | |
11 | g.45806328T>A | CA380203613 | SLC35C1 | c.488T>A (p.Ile163Asn) c.527T>A (p.Ile176Asn) | |
11 | g.45806328T>C | CA380203617 | SLC35C1 | c.488T>C (p.Ile163Thr) c.527T>C (p.Ile176Thr) | |
11 | g.45806328T>G | CA380203616 | SLC35C1 | c.488T>G (p.Ile163Ser) c.527T>G (p.Ile176Ser) | |
11 | g.45806329C>A | CA473858090 | SLC35C1 | c.489C>A (p.Ile163=) c.528C>A (p.Ile176=) | |
11 | g.45806329C= | CA1968693118 | SLC35C1 | c.489C= (p.Ile163=) c.528C= (p.Ile176=) | |
11 | g.45806329C>G | CA380203626 | SLC35C1 | c.489C>G (p.Ile163Met) c.528C>G (p.Ile176Met) | |
11 | g.45806329C>T | CA473858091 | SLC35C1 | c.489C>T (p.Ile163=) c.528C>T (p.Ile176=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.45806330A>C | CA380203633 | SLC35C1 | c.490A>C (p.Ile164Leu) c.529A>C (p.Ile177Leu) | |
11 | g.45806330A>G | CA380203629 | SLC35C1 | c.490A>G (p.Ile164Val) c.529A>G (p.Ile177Val) | |
11 | g.45806330A>T | CA380203631 | SLC35C1 | c.490A>T (p.Ile164Phe) c.529A>T (p.Ile177Phe) | |
11 | g.45806331T>A | CA380203634 | SLC35C1 | c.491T>A (p.Ile164Asn) c.530T>A (p.Ile177Asn) | |
11 | g.45806331T>C | CA380203635 | SLC35C1 | c.491T>C (p.Ile164Thr) c.530T>C (p.Ile177Thr) | |
11 | g.45806331T>G | CA380203639 | SLC35C1 | c.491T>G (p.Ile164Ser) c.530T>G (p.Ile177Ser) | |
11 | g.45806332C>A | CA473858092 | SLC35C1 | c.492C>A (p.Ile164=) c.531C>A (p.Ile177=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.45806332C= | CA1968693119 | SLC35C1 | c.492C= (p.Ile164=) c.531C= (p.Ile177=) | |
11 | g.45806332C>G | CA380203642 | SLC35C1 | c.492C>G (p.Ile164Met) c.531C>G (p.Ile177Met) | |
11 | g.45806332C>T | CA473858093 | SLC35C1 | c.492C>T (p.Ile164=) c.531C>T (p.Ile177=) | |
11 | g.45806333A>C | CA380203646 | SLC35C1 | c.493A>C (p.Ile165Leu) c.532A>C (p.Ile178Leu) | |
11 | g.45806333A>G | CA380203648 | SLC35C1 | c.493A>G (p.Ile165Val) c.532A>G (p.Ile178Val) | gnomAD v4 |
11 | g.45806333A>T | CA380203651 | SLC35C1 | c.493A>T (p.Ile165Phe) c.532A>T (p.Ile178Phe) | |
11 | g.45806334T>A | CA380203662 | SLC35C1 | c.494T>A (p.Ile165Asn) c.533T>A (p.Ile178Asn) | |
11 | g.45806334T>C | CA380203666 | SLC35C1 | c.494T>C (p.Ile165Thr) c.533T>C (p.Ile178Thr) | |
11 | g.45806334T>G | CA380203670 | SLC35C1 | c.494T>G (p.Ile165Ser) c.533T>G (p.Ile178Ser) | gnomAD v4 |
11 | g.45806335C>A | CA5958259 | SLC35C1 | c.495C>A (p.Ile165=) c.534C>A (p.Ile178=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.45806335C= | CA1968693120 | SLC35C1 | c.495C= (p.Ile165=) c.534C= (p.Ile178=) | |
11 | g.45806335C>G | CA380203673 | SLC35C1 | c.495C>G (p.Ile165Met) c.534C>G (p.Ile178Met) | |
11 | g.45806335C>T | CA5958260 | SLC35C1 | c.495C>T (p.Ile165=) c.534C>T (p.Ile178=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.45806336G>A | CA5958261 | SLC35C1 | c.496G>A (p.Gly166Arg) c.535G>A (p.Gly179Arg) c.496G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.45806336G>C | CA380203681 | SLC35C1 | c.496G>C (p.Gly166Arg) c.535G>C (p.Gly179Arg) c.496G>C | |
11 | g.45806336G= | CA1968693121 | SLC35C1 | c.496G= (p.Gly166=) c.535G= (p.Gly179=) c.496G= | |
11 | g.45806336G>T | CA380203684 | SLC35C1 | c.496G>T (p.Gly166Trp) c.535G>T (p.Gly179Trp) c.496G>T | gnomAD v4 |
11 | g.45806337G>A | CA380203686 | SLC35C1 | c.496+1G>A (n.496+1G>A) c.535+1G>A (n.535+1G>A) | COSMIC |
11 | g.45806337G>C | CA380203687 | SLC35C1 | c.496+1G>C (n.496+1G>C) c.535+1G>C (n.535+1G>C) | |
11 | g.45806337G>T | CA380203690 | SLC35C1 | c.496+1G>T (n.496+1G>T) c.535+1G>T (n.535+1G>T) | |
11 | g.45806338T>A | CA380203693 | SLC35C1 | c.496+2T>A (n.496+2T>A) c.535+2T>A (n.535+2T>A) | |
11 | g.45806338T>C | CA380203699 | SLC35C1 | c.496+2T>C (n.496+2T>C) c.535+2T>C (n.535+2T>C) | |
11 | g.45806338T>G | CA380203703 | SLC35C1 | c.496+2T>G (n.496+2T>G) c.535+2T>G (n.535+2T>G) | |
11 | g.45806339G>A | CA1968693123 | SLC35C1 | c.496+3G>A (n.496+3G>A) c.535+3G>A (n.535+3G>A) | dbSNP |
11 | g.45806339G= | CA1968693122 | SLC35C1 | c.496+3G= (n.496+3G=) c.535+3G= (n.535+3G=) | |
11 | g.45806339G>T | CA2613258215 | SLC35C1 | c.496+3G>T (n.496+3G>T) c.535+3G>T (n.535+3G>T) | gnomAD v4 |
11 | g.45806341G>A | CA2842786560 | SLC35C1 | c.496+5G>A (n.496+5G>A) c.535+5G>A (n.535+5G>A) | |
11 | g.45806341G>C | CA2613258216 | SLC35C1 | c.496+5G>C (n.496+5G>C) c.535+5G>C (n.535+5G>C) | gnomAD v4 |
11 | g.45806341G>T | CA2838523865 | SLC35C1 | c.496+5G>T (n.496+5G>T) c.535+5G>T (n.535+5G>T) | |
11 | g.45806343G>T | CA2791288788 | SLC35C1 | c.496+7G>T (n.496+7G>T) c.535+7G>T (n.535+7G>T) | |
11 | g.45806344G>A | CA599024383 | SLC35C1 | c.496+8G>A (n.496+8G>A) c.535+8G>A (n.535+8G>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.45806344G= | CA1968693124 | SLC35C1 | c.496+8G= (n.496+8G=) c.535+8G= (n.535+8G=) | |
11 | g.45806344G>T | CA2613258217 | SLC35C1 | c.496+8G>T (n.496+8G>T) c.535+8G>T (n.535+8G>T) | gnomAD v4 |
11 | g.45806345C>T | CA2574805527 | SLC35C1 | c.496+9C>T (n.496+9C>T) c.535+9C>T (n.535+9C>T) | gnomAD v4 |
11 | g.45806346A= | CA1968693125 | SLC35C1 | c.496+10A= (n.496+10A=) c.535+10A= (n.535+10A=) | |
11 | g.45806346A>G | CA5958262 | SLC35C1 | c.496+10A>G (n.496+10A>G) c.535+10A>G (n.535+10A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.45806347G>C | CA221585639 | SLC35C1 | c.496+11G>C (n.496+11G>C) c.535+11G>C (n.535+11G>C) | dbSNP gnomAD v4 |
11 | g.45806347G= | CA1968693126 | SLC35C1 | c.496+11G= (n.496+11G=) c.535+11G= (n.535+11G=) | |
11 | g.45806347G>T | CA2613258218 | SLC35C1 | c.496+11G>T (n.496+11G>T) c.535+11G>T (n.535+11G>T) | gnomAD v4 |
11 | g.45806348C>A | CA2613258219 | SLC35C1 | c.496+12C>A (n.496+12C>A) c.535+12C>A (n.535+12C>A) | gnomAD v4 |
11 | g.45806348C= | CA1968693127 | SLC35C1 | c.496+12C= (n.496+12C=) c.535+12C= (n.535+12C=) | |
11 | g.45806348C>G | CA1968693128 | SLC35C1 | c.496+12C>G (n.496+12C>G) c.535+12C>G (n.535+12C>G) | dbSNP |
11 | g.45806348C>T | CA2842786561 | SLC35C1 | c.496+12C>T (n.496+12C>T) c.535+12C>T (n.535+12C>T) | |
11 | g.45806350G>A | CA2842786562 | SLC35C1 | c.496+14G>A (n.496+14G>A) c.535+14G>A (n.535+14G>A) | |
11 | g.45806350G>T | CA2613258221 | SLC35C1 | c.496+14G>T (n.496+14G>T) c.535+14G>T (n.535+14G>T) | gnomAD v4 |
11 | g.45806353del | CA2613258220 | SLC35C1 | c.496+17del (n.496+17del) c.535+17del (n.535+17del) | gnomAD v4 |
11 | g.45806351G>A | CA599024385 | SLC35C1 | c.496+15G>A (n.496+15G>A) c.535+15G>A (n.535+15G>A) | dbSNP gnomAD v2 |
11 | g.45806351G= | CA1968693129 | SLC35C1 | c.496+15G= (n.496+15G=) c.535+15G= (n.535+15G=) | |
11 | g.45806352G>A | CA2723917756 | SLC35C1 | c.496+16G>A (n.496+16G>A) c.535+16G>A (n.535+16G>A) | dbSNP |
11 | g.45806352G>T | CA2613258222 | SLC35C1 | c.496+16G>T (n.496+16G>T) c.535+16G>T (n.535+16G>T) | gnomAD v4 |
11 | g.45806353G>A | CA599024386 | SLC35C1 | c.496+17G>A (n.496+17G>A) c.535+17G>A (n.535+17G>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.45806353G= | CA1968693130 | SLC35C1 | c.496+17G= (n.496+17G=) c.535+17G= (n.535+17G=) | |
11 | g.45806353G>T | CA2613258223 | SLC35C1 | c.496+17G>T (n.496+17G>T) c.535+17G>T (n.535+17G>T) | gnomAD v4 |
11 | g.45806354C>A | CA2613258224 | SLC35C1 | c.496+18C>A (n.496+18C>A) c.535+18C>A (n.535+18C>A) | gnomAD v4 |
11 | g.45806354C= | CA1968693131 | SLC35C1 | c.496+18C= (n.496+18C=) c.535+18C= (n.535+18C=) | |
11 | g.45806354C>G | CA1968693132 | SLC35C1 | c.496+18C>G (n.496+18C>G) c.535+18C>G (n.535+18C>G) | dbSNP |
11 | g.45806354C>T | CA2613258225 | SLC35C1 | c.496+18C>T (n.496+18C>T) c.535+18C>T (n.535+18C>T) | gnomAD v4 |
11 | g.45806355C>G | CA2838216854 | SLC35C1 | c.496+19C>G (n.496+19C>G) c.535+19C>G (n.535+19C>G) | |
11 | g.45806355C>T | CA2613258226 | SLC35C1 | c.496+19C>T (n.496+19C>T) c.535+19C>T (n.535+19C>T) | gnomAD v4 |
11 | g.45806356A= | CA1968693133 | SLC35C1 | c.496+20A= (n.496+20A=) c.535+20A= (n.535+20A=) | |
11 | g.45806356A>G | CA937547871 | SLC35C1 | c.496+20A>G (n.496+20A>G) c.535+20A>G (n.535+20A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.45806357C= | CA1968693135 | SLC35C1 | c.496+21C= (n.496+21C=) c.535+21C= (n.535+21C=) | |
11 | g.45806357C>G | CA599024387 | SLC35C1 | c.496+21C>G (n.496+21C>G) c.535+21C>G (n.535+21C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.45806357C>T | CA937547874 | SLC35C1 | c.496+21C>T (n.496+21C>T) c.535+21C>T (n.535+21C>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.45806357_45806359delinsCGG | CA1968693134 | SLC35C1 | c.496+21_496+23delinsCGG (n.496+21_496+23delinsCGG) c.535+21_535+23delinsCGG (n.535+21_535+23delinsCGG) | |
11 | g.45806358G>A | CA5958264 | SLC35C1 | c.496+22G>A (n.496+22G>A) c.535+22G>A (n.535+22G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.45806358G= | CA1968693137 | SLC35C1 | c.496+22G= (n.496+22G=) c.535+22G= (n.535+22G=) | |
11 | g.45806358G>T | CA2613258227 | SLC35C1 | c.496+22G>T (n.496+22G>T) c.535+22G>T (n.535+22G>T) | gnomAD v4 |
11 | g.45806362del | CA5958263 | SLC35C1 | c.496+26del (n.496+26del) c.535+26del (n.535+26del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.45806361_45806362del | CA1968693136 | SLC35C1 | c.496+25_496+26del (n.496+25_496+26del) c.535+25_535+26del (n.535+25_535+26del) | dbSNP |
11 | g.45806359G>T | CA2613258228 | SLC35C1 | c.496+23G>T (n.496+23G>T) c.535+23G>T (n.535+23G>T) | gnomAD v4 |
11 | g.45806360G>A | CA5958265 | SLC35C1 | c.496+24G>A (n.496+24G>A) c.535+24G>A (n.535+24G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.45806360G= | CA1968693138 | SLC35C1 | c.496+24G= (n.496+24G=) c.535+24G= (n.535+24G=) | |
11 | g.45806360G>T | CA2613258229 | SLC35C1 | c.496+24G>T (n.496+24G>T) c.535+24G>T (n.535+24G>T) | gnomAD v4 |
11 | g.45806361G>A | CA1968693140 | SLC35C1 | c.496+25G>A (n.496+25G>A) c.535+25G>A (n.535+25G>A) | dbSNP |
11 | g.45806361G= | CA1968693139 | SLC35C1 | c.496+25G= (n.496+25G=) c.535+25G= (n.535+25G=) | |
11 | g.45806361G>T | CA2613258230 | SLC35C1 | c.496+25G>T (n.496+25G>T) c.535+25G>T (n.535+25G>T) | gnomAD v4 |
11 | g.45806362G>A | CA599024391 | SLC35C1 | c.496+26G>A (n.496+26G>A) c.535+26G>A (n.535+26G>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.45806362G>C | CA2723741412 | SLC35C1 | c.496+26G>C (n.496+26G>C) c.535+26G>C (n.535+26G>C) | dbSNP |
11 | g.45806362G= | CA1968693141 | SLC35C1 | c.496+26G= (n.496+26G=) c.535+26G= (n.535+26G=) | |
11 | g.45806362G>T | CA2613258231 | SLC35C1 | c.496+26G>T (n.496+26G>T) c.535+26G>T (n.535+26G>T) | gnomAD v4 |
11 | g.45806363A= | CA1968693142 | SLC35C1 | c.496+27A= (n.496+27A=) c.535+27A= (n.535+27A=) | |
11 | g.45806363A>G | CA1968693143 | SLC35C1 | c.496+27A>G (n.496+27A>G) c.535+27A>G (n.535+27A>G) | dbSNP |
11 | g.45806363A>T | CA2574805528 | SLC35C1 | c.496+27A>T (n.496+27A>T) c.535+27A>T (n.535+27A>T) | gnomAD v4 |
11 | g.45806364T>A | CA5958266 | SLC35C1 | c.496+28T>A (n.496+28T>A) c.535+28T>A (n.535+28T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.45806364T>G | CA2842786563 | SLC35C1 | c.496+28T>G (n.496+28T>G) c.535+28T>G (n.535+28T>G) | |
11 | g.45806364T= | CA1968693144 | SLC35C1 | c.496+28T= (n.496+28T=) c.535+28T= (n.535+28T=) | |
11 | g.45806365A= | CA1968693145 | SLC35C1 | c.496+29A= (n.496+29A=) c.535+29A= (n.535+29A=) | |
11 | g.45806365A>G | CA2842786564 | SLC35C1 | c.496+29A>G (n.496+29A>G) c.535+29A>G (n.535+29A>G) | |
11 | g.45806365A>T | CA221585650 | SLC35C1 | c.496+29A>T (n.496+29A>T) c.535+29A>T (n.535+29A>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.45806367_45806368del | CA2838523868 | SLC35C1 | c.496+31_496+32del (n.496+31_496+32del) c.535+31_535+32del (n.535+31_535+32del) | |
11 | g.45806366G>C | CA599024393 | SLC35C1 | c.496+30G>C (n.496+30G>C) c.535+30G>C (n.535+30G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.45806366G= | CA1968693146 | SLC35C1 | c.496+30G= (n.496+30G=) c.535+30G= (n.535+30G=) | |
11 | g.45806366G>T | CA2613258232 | SLC35C1 | c.496+30G>T (n.496+30G>T) c.535+30G>T (n.535+30G>T) | gnomAD v4 |
11 | g.45806367A= | CA1968693147 | SLC35C1 | c.496+31A= (n.496+31A=) c.535+31A= (n.535+31A=) | |
11 | g.45806367A>G | CA676889897 | SLC35C1 | c.496+31A>G (n.496+31A>G) c.535+31A>G (n.535+31A>G) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.45806367A>T | CA1968693148 | SLC35C1 | c.496+31A>T (n.496+31A>T) c.535+31A>T (n.535+31A>T) | dbSNP |
11 | g.45806368G>A | CA2613258233 | SLC35C1 | c.496+32G>A (n.496+32G>A) c.535+32G>A (n.535+32G>A) | gnomAD v4 |
11 | g.45806369T>G | CA599024394 | SLC35C1 | c.496+33T>G (n.496+33T>G) c.535+33T>G (n.535+33T>G) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.45806369T= | CA1968693149 | SLC35C1 | c.496+33T= (n.496+33T=) c.535+33T= (n.535+33T=) | |
11 | g.45806370G>A | CA2613258235 | SLC35C1 | c.496+34G>A (n.496+34G>A) c.535+34G>A (n.535+34G>A) | gnomAD v4 |
11 | g.45806370G>T | CA2613258234 | SLC35C1 | c.496+34G>T (n.496+34G>T) c.535+34G>T (n.535+34G>T) | gnomAD v4 |
11 | g.45806371G>A | CA654524726 | SLC35C1 | c.496+35G>A (n.496+35G>A) c.535+35G>A (n.535+35G>A) | COSMIC |
11 | g.45806371G>C | CA599024396 | SLC35C1 | c.496+35G>C (n.496+35G>C) c.535+35G>C (n.535+35G>C) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.45806371G= | CA1968693150 | SLC35C1 | c.496+35G= (n.496+35G=) c.535+35G= (n.535+35G=) | |
11 | g.45806371G>T | CA2613258236 | SLC35C1 | c.496+35G>T (n.496+35G>T) c.535+35G>T (n.535+35G>T) | gnomAD v4 |
11 | g.45806372T>G | CA1968693152 | SLC35C1 | c.496+36T>G (n.496+36T>G) c.535+36T>G (n.535+36T>G) | dbSNP |
11 | g.45806372T= | CA1968693151 | SLC35C1 | c.496+36T= (n.496+36T=) c.535+36T= (n.535+36T=) | |
11 | g.45806373C>A | CA2613258237 | SLC35C1 | c.496+37C>A (n.496+37C>A) c.535+37C>A (n.535+37C>A) | gnomAD v4 |
11 | g.45806373C>T | CA2613258238 | SLC35C1 | c.496+37C>T (n.496+37C>T) c.535+37C>T (n.535+37C>T) | gnomAD v4 |
11 | g.45806374A= | CA1968693153 | SLC35C1 | c.496+38A= (n.496+38A=) c.535+38A= (n.535+38A=) | |
11 | g.45806374A>C | CA5958267 | SLC35C1 | c.496+38A>C (n.496+38A>C) c.535+38A>C (n.535+38A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.45806374A>G | CA221585657 | SLC35C1 | c.496+38A>G (n.496+38A>G) c.535+38A>G (n.535+38A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.45806375T>A | CA2613258239 | SLC35C1 | c.496+39T>A (n.496+39T>A) c.535+39T>A (n.535+39T>A) | gnomAD v4 |
11 | g.45806376G>T | CA2613258240 | SLC35C1 | c.496+40G>T (n.496+40G>T) c.535+40G>T (n.535+40G>T) | gnomAD v4 |
11 | g.45806377G>T | CA2613258241 | SLC35C1 | c.496+41G>T (n.496+41G>T) c.535+41G>T (n.535+41G>T) | gnomAD v4 |
11 | g.45806378G>A | CA599024399 | SLC35C1 | c.496+42G>A (n.496+42G>A) c.535+42G>A (n.535+42G>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.45806378G>C | CA599024397 | SLC35C1 | c.496+42G>C (n.496+42G>C) c.535+42G>C (n.535+42G>C) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.45806378G= | CA1968693154 | SLC35C1 | c.496+42G= (n.496+42G=) c.535+42G= (n.535+42G=) | |
11 | g.45806378G>T | CA2613258242 | SLC35C1 | c.496+42G>T (n.496+42G>T) c.535+42G>T (n.535+42G>T) | gnomAD v4 |
11 | g.45806379G>A | CA1968693156 | SLC35C1 | c.496+43G>A (n.496+43G>A) c.535+43G>A (n.535+43G>A) | dbSNP gnomAD v4 |
11 | g.45806379G= | CA1968693155 | SLC35C1 | c.496+43G= (n.496+43G=) c.535+43G= (n.535+43G=) | |
11 | g.45806379G>T | CA2613258243 | SLC35C1 | c.496+43G>T (n.496+43G>T) c.535+43G>T (n.535+43G>T) | gnomAD v4 |
11 | g.45806380A>T | CA2613258244 | SLC35C1 | c.496+44A>T (n.496+44A>T) c.535+44A>T (n.535+44A>T) | gnomAD v4 |
11 | g.45806381C>A | CA2613258245 | SLC35C1 | c.496+45C>A (n.496+45C>A) c.535+45C>A (n.535+45C>A) | gnomAD v4 |
11 | g.45806381C= | CA1968693157 | SLC35C1 | c.496+45C= (n.496+45C=) c.535+45C= (n.535+45C=) | |
11 | g.45806381C>T | CA473858094 | SLC35C1 | c.496+45C>T (n.496+45C>T) c.535+45C>T (n.535+45C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.45806382T>C | CA2613258246 | SLC35C1 | c.496+46T>C (n.496+46T>C) c.535+46T>C (n.535+46T>C) | gnomAD v4 |
11 | g.45806382T>G | CA2613258247 | SLC35C1 | c.496+46T>G (n.496+46T>G) c.535+46T>G (n.535+46T>G) | gnomAD v4 |
11 | g.45806383G>A | CA599024401 | SLC35C1 | c.496+47G>A (n.496+47G>A) c.535+47G>A (n.535+47G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.45806383G= | CA1968693158 | SLC35C1 | c.496+47G= (n.496+47G=) c.535+47G= (n.535+47G=) | |
11 | g.45806383G>T | CA2613258248 | SLC35C1 | c.496+47G>T (n.496+47G>T) c.535+47G>T (n.535+47G>T) | gnomAD v4 |
11 | g.45806385dup | CA221585661 | SLC35C1 | c.496+49dup (n.496+49dup) c.535+49dup (n.535+49dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.45806386G>T | CA2613258249 | SLC35C1 | c.496+50G>T (n.496+50G>T) c.535+50G>T (n.535+50G>T) | gnomAD v4 |
11 | g.45806387C>A | CA2613258250 | SLC35C1 | c.496+51C>A (n.496+51C>A) c.535+51C>A (n.535+51C>A) | gnomAD v4 |
11 | g.45806387C>T | CA2613258251 | SLC35C1 | c.496+51C>T (n.496+51C>T) c.535+51C>T (n.535+51C>T) | gnomAD v4 |
11 | g.45806388A= | CA1968693159 | SLC35C1 | c.496+52A= (n.496+52A=) c.535+52A= (n.535+52A=) | |
11 | g.45806388A>C | CA5958268 | SLC35C1 | c.496+52A>C (n.496+52A>C) c.535+52A>C (n.535+52A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.45806388A>G | CA599024403 | SLC35C1 | c.496+52A>G (n.496+52A>G) c.535+52A>G (n.535+52A>G) | dbSNP gnomAD v2 |
11 | g.45806388A>T | CA2613258252 | SLC35C1 | c.496+52A>T (n.496+52A>T) c.535+52A>T (n.535+52A>T) | gnomAD v4 |
11 | g.45806389G>A | CA2613258254 | SLC35C1 | c.496+53G>A (n.496+53G>A) c.535+53G>A (n.535+53G>A) | gnomAD v4 |
11 | g.45806389G>C | CA2574805529 | SLC35C1 | c.496+53G>C (n.496+53G>C) c.535+53G>C (n.535+53G>C) | |
11 | g.45806389G>T | CA2613258253 | SLC35C1 | c.496+53G>T (n.496+53G>T) c.535+53G>T (n.535+53G>T) | gnomAD v4 |
11 | g.45806391G>T | CA2613258255 | SLC35C1 | c.496+55G>T (n.496+55G>T) c.535+55G>T (n.535+55G>T) | gnomAD v4 |
11 | g.45806392A= | CA1968693160 | SLC35C1 | c.496+56A= (n.496+56A=) c.535+56A= (n.535+56A=) | |
11 | g.45806392A>T | CA473858095 | SLC35C1 | c.496+56A>T (n.496+56A>T) c.535+56A>T (n.535+56A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.45806393A= | CA1968693161 | SLC35C1 | c.496+57A= (n.496+57A=) c.535+57A= (n.535+57A=) | |
11 | g.45806393A>G | CA1968693162 | SLC35C1 | c.496+57A>G (n.496+57A>G) c.535+57A>G (n.535+57A>G) | dbSNP gnomAD v4 |
11 | g.45806393A>T | CA2613258256 | SLC35C1 | c.496+57A>T (n.496+57A>T) c.535+57A>T (n.535+57A>T) | gnomAD v4 |
11 | g.45806394G>A | CA2613258257 | SLC35C1 | c.496+58G>A (n.496+58G>A) c.535+58G>A (n.535+58G>A) | gnomAD v4 |
11 | g.45806394G>C | CA2613258258 | SLC35C1 | c.496+58G>C (n.496+58G>C) c.535+58G>C (n.535+58G>C) | gnomAD v4 |
11 | g.45806394G>T | CA2613258259 | SLC35C1 | c.496+58G>T (n.496+58G>T) c.535+58G>T (n.535+58G>T) | gnomAD v4 |
11 | g.45806394_45806397delinsGAAC | CA1968693163 | SLC35C1 | c.496+58_496+61delinsGAAC (n.496+58_496+61delinsGAAC) c.535+58_535+61delinsGAAC (n.535+58_535+61delinsGAAC) | |
11 | g.45806398_45806400del | CA599024404 | SLC35C1 | c.496+62_496+64del (n.496+62_496+64del) c.535+62_535+64del (n.535+62_535+64del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.45806396A>G | CA2613258260 | SLC35C1 | c.496+60A>G (n.496+60A>G) c.535+60A>G (n.535+60A>G) | gnomAD v4 |
11 | g.45806397C>A | CA2842786565 | SLC35C1 | c.496+61C>A (n.496+61C>A) c.535+61C>A (n.535+61C>A) | |
11 | g.45806397C>T | CA2613258261 | SLC35C1 | c.496+61C>T (n.496+61C>T) c.535+61C>T (n.535+61C>T) | gnomAD v4 |
11 | g.45806399A= | CA1968693164 | SLC35C1 | c.496+63A= (n.496+63A=) c.535+63A= (n.535+63A=) | |
11 | g.45806399A>G | CA937547888 | SLC35C1 | c.496+63A>G (n.496+63A>G) c.535+63A>G (n.535+63A>G) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.45806400C>A | CA2613258262 | SLC35C1 | c.496+64C>A (n.496+64C>A) c.535+64C>A (n.535+64C>A) | gnomAD v4 |
11 | g.45806401T>C | CA2613258263 | SLC35C1 | c.496+65T>C (n.496+65T>C) c.535+65T>C (n.535+65T>C) | gnomAD v4 |
11 | g.45806402C>A | CA2613258264 | SLC35C1 | c.496+66C>A (n.496+66C>A) c.535+66C>A (n.535+66C>A) | gnomAD v4 |
11 | g.45806403T>G | CA1968693166 | SLC35C1 | c.496+67T>G (n.496+67T>G) c.535+67T>G (n.535+67T>G) | dbSNP |
11 | g.45806403T= | CA1968693165 | SLC35C1 | c.496+67T= (n.496+67T=) c.535+67T= (n.535+67T=) | |
11 | g.45806404T>A | CA2613258265 | SLC35C1 | c.496+68T>A (n.496+68T>A) c.535+68T>A (n.535+68T>A) | gnomAD v4 |
11 | g.45806404T>C | CA2574805530 | SLC35C1 | c.496+68T>C (n.496+68T>C) c.535+68T>C (n.535+68T>C) | gnomAD v4 |
11 | g.45806405C>A | CA2613258266 | SLC35C1 | c.496+69C>A (n.496+69C>A) c.535+69C>A (n.535+69C>A) | gnomAD v4 |
11 | g.45806405C= | CA1968693167 | SLC35C1 | c.496+69C= (n.496+69C=) c.535+69C= (n.535+69C=) | |
11 | g.45806405C>G | CA1968693168 | SLC35C1 | c.496+69C>G (n.496+69C>G) c.535+69C>G (n.535+69C>G) | dbSNP gnomAD v4 |
11 | g.45806405C>T | CA2539060352 | SLC35C1 | c.496+69C>T (n.496+69C>T) c.535+69C>T (n.535+69C>T) | gnomAD v4 |