| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.45806108G>A | CA380202704 | SLC35C1 | c.268G>A (p.Asp90Asn) c.307G>A (p.Asp103Asn) | |
| 11 | g.45806108G>C | CA380202705 | SLC35C1 | c.268G>C (p.Asp90His) c.307G>C (p.Asp103His) | |
| 11 | g.45806108G= | CA1968693007 | SLC35C1 | c.268G= (p.Asp90=) c.307G= (p.Asp103=) | |
| 11 | g.45806108G>T | CA5958216 | SLC35C1 | c.268G>T (p.Asp90Tyr) c.307G>T (p.Asp103Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.45806109A>C | CA380202708 | SLC35C1 | c.269A>C (p.Asp90Ala) c.308A>C (p.Asp103Ala) | gnomAD v4 |
| 11 | g.45806109A>G | CA380202707 | SLC35C1 | c.269A>G (p.Asp90Gly) c.308A>G (p.Asp103Gly) | gnomAD v4 |
| 11 | g.45806109A>T | CA380202706 | SLC35C1 | c.269A>T (p.Asp90Val) c.308A>T (p.Asp103Val) | gnomAD v4 |
| 11 | g.45806110C>A | CA380202709 | SLC35C1 | c.270C>A (p.Asp90Glu) c.309C>A (p.Asp103Glu) | |
| 11 | g.45806110C= | CA1968693008 | SLC35C1 | c.270C= (p.Asp90=) c.309C= (p.Asp103=) | |
| 11 | g.45806110C>G | CA380202710 | SLC35C1 | c.270C>G (p.Asp90Glu) c.309C>G (p.Asp103Glu) | |
| 11 | g.45806110C>T | CA5958217 | SLC35C1 | c.270C>T (p.Asp90=) c.309C>T (p.Asp103=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.45806111T>A | CA380202711 | SLC35C1 | c.271T>A (p.Phe91Ile) c.310T>A (p.Phe104Ile) | gnomAD v4 |
| 11 | g.45806111T>C | CA380202712 | SLC35C1 | c.271T>C (p.Phe91Leu) c.310T>C (p.Phe104Leu) | |
| 11 | g.45806111T>G | CA380202713 | SLC35C1 | c.271T>G (p.Phe91Val) c.310T>G (p.Phe104Val) | |
| 11 | g.45806112dup | CA2579753822 | SLC35C1 | c.272dup (p.Ser93GlnfsTer27) c.311dup (p.Ser106GlnfsTer27) | |
| 11 | g.45806112T>A | CA380202714 | SLC35C1 | c.272T>A (p.Phe91Tyr) c.311T>A (p.Phe104Tyr) | |
| 11 | g.45806112T>C | CA380202716 | SLC35C1 | c.272T>C (p.Phe91Ser) c.311T>C (p.Phe104Ser) | |
| 11 | g.45806112T>G | CA380202715 | SLC35C1 | c.272T>G (p.Phe91Cys) c.311T>G (p.Phe104Cys) | |
| 11 | g.45806113C>A | CA5958218 | SLC35C1 | c.273C>A (p.Phe91Leu) c.312C>A (p.Phe104Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.45806113C= | CA1968693009 | SLC35C1 | c.273C= (p.Phe91=) c.312C= (p.Phe104=) | |
| 11 | g.45806113C>G | CA380202717 | SLC35C1 | c.273C>G (p.Phe91Leu) c.312C>G (p.Phe104Leu) | |
| 11 | g.45806113C>T | CA5958219 | SLC35C1 | c.273C>T (p.Phe91=) c.312C>T (p.Phe104=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.45806114C>A | CA380202718 | SLC35C1 | c.274C>A (p.Pro92Thr) c.313C>A (p.Pro105Thr) | |
| 11 | g.45806114C= | CA1968693010 | SLC35C1 | c.274C= (p.Pro92=) c.313C= (p.Pro105=) | |
| 11 | g.45806114C>G | CA380202719 | SLC35C1 | c.274C>G (p.Pro92Ala) c.313C>G (p.Pro105Ala) | dbSNP |
| 11 | g.45806114C>T | CA380202720 | SLC35C1 | c.274C>T (p.Pro92Ser) c.313C>T (p.Pro105Ser) | COSMIC |
| 11 | g.45806115C>A | CA380202721 | SLC35C1 | c.275C>A (p.Pro92His) c.314C>A (p.Pro105His) | dbSNP |
| 11 | g.45806115C= | CA1968693011 | SLC35C1 | c.275C= (p.Pro92=) c.314C= (p.Pro105=) | |
| 11 | g.45806115C>G | CA380202722 | SLC35C1 | c.275C>G (p.Pro92Arg) c.314C>G (p.Pro105Arg) | |
| 11 | g.45806115C>T | CA380202723 | SLC35C1 | c.275C>T (p.Pro92Leu) c.314C>T (p.Pro105Leu) | gnomAD v4 |
| 11 | g.45806116C>A | CA474036572 | SLC35C1 | c.276C>A (p.Pro92=) c.315C>A (p.Pro105=) | |
| 11 | g.45806116C>G | CA474036573 | SLC35C1 | c.276C>G (p.Pro92=) c.315C>G (p.Pro105=) | |
| 11 | g.45806116C>T | CA474036574 | SLC35C1 | c.276C>T (p.Pro92=) c.315C>T (p.Pro105=) | |
| 11 | g.45806117A>C | CA380202724 | SLC35C1 | c.277A>C (p.Ser93Arg) c.316A>C (p.Ser106Arg) | |
| 11 | g.45806117A>G | CA380202725 | SLC35C1 | c.277A>G (p.Ser93Gly) c.316A>G (p.Ser106Gly) | |
| 11 | g.45806117A>T | CA380202726 | SLC35C1 | c.277A>T (p.Ser93Cys) c.316A>T (p.Ser106Cys) | |
| 11 | g.45806118G>A | CA380202729 | SLC35C1 | c.278G>A (p.Ser93Asn) c.317G>A (p.Ser106Asn) | |
| 11 | g.45806118G>C | CA380202727 | SLC35C1 | c.278G>C (p.Ser93Thr) c.317G>C (p.Ser106Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.45806118G= | CA1968693012 | SLC35C1 | c.278G= (p.Ser93=) c.317G= (p.Ser106=) | |
| 11 | g.45806118G>T | CA380202728 | SLC35C1 | c.278G>T (p.Ser93Ile) c.317G>T (p.Ser106Ile) | |
| 11 | g.45806119C>A | CA380202730 | SLC35C1 | c.279C>A (p.Ser93Arg) c.318C>A (p.Ser106Arg) | |
| 11 | g.45806119C>G | CA380202731 | SLC35C1 | c.279C>G (p.Ser93Arg) c.318C>G (p.Ser106Arg) | |
| 11 | g.45806119C>T | CA474036579 | SLC35C1 | c.279C>T (p.Ser93=) c.318C>T (p.Ser106=) | |
| 11 | g.45806120T>A | CA380202732 | SLC35C1 | c.280T>A (p.Leu94Met) c.319T>A (p.Leu107Met) | |
| 11 | g.45806120T>C | CA474036580 | SLC35C1 | c.280T>C (p.Leu94=) c.319T>C (p.Leu107=) | |
| 11 | g.45806120T>G | CA380202733 | SLC35C1 | c.280T>G (p.Leu94Val) c.319T>G (p.Leu107Val) | |
| 11 | g.45806121T>A | CA380202734 | SLC35C1 | c.281T>A (p.Leu94Ter) c.320T>A (p.Leu107Ter) | |
| 11 | g.45806121T>C | CA380202735 | SLC35C1 | c.281T>C (p.Leu94Ser) c.320T>C (p.Leu107Ser) | |
| 11 | g.45806121T>G | CA380202736 | SLC35C1 | c.281T>G (p.Leu94Trp) c.320T>G (p.Leu107Trp) | |
| 11 | g.45806122G>A | CA474036584 | SLC35C1 | c.282G>A (p.Leu94=) c.321G>A (p.Leu107=) | gnomAD v4 |
| 11 | g.45806122G>C | CA380202737 | SLC35C1 | c.282G>C (p.Leu94Phe) c.321G>C (p.Leu107Phe) | |
| 11 | g.45806122G>T | CA380202738 | SLC35C1 | c.282G>T (p.Leu94Phe) c.321G>T (p.Leu107Phe) | gnomAD v4 |
| 11 | g.45806123C>A | CA380202739 | SLC35C1 | c.283C>A (p.Arg95Ser) c.322C>A (p.Arg108Ser) | |
| 11 | g.45806123C= | CA1968693013 | SLC35C1 | c.283C= (p.Arg95=) c.322C= (p.Arg108=) | |
| 11 | g.45806123C>G | CA380202740 | SLC35C1 | c.283C>G (p.Arg95Gly) c.322C>G (p.Arg108Gly) | |
| 11 | g.45806123C>T | CA380202741 | SLC35C1 | c.283C>T (p.Arg95Cys) c.322C>T (p.Arg108Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.45806124G>A | CA5958220 | SLC35C1 | c.284G>A (p.Arg95His) c.323G>A (p.Arg108His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.45806124G>C | CA380202743 | SLC35C1 | c.284G>C (p.Arg95Pro) c.323G>C (p.Arg108Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.45806124G= | CA1968693014 | SLC35C1 | c.284G= (p.Arg95=) c.323G= (p.Arg108=) | |
| 11 | g.45806124G>T | CA380202742 | SLC35C1 | c.284G>T (p.Arg95Leu) c.323G>T (p.Arg108Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.45806125C>A | CA474036586 | SLC35C1 | c.285C>A (p.Arg95=) c.324C>A (p.Arg108=) | |
| 11 | g.45806125C= | CA1968693015 | SLC35C1 | c.285C= (p.Arg95=) c.324C= (p.Arg108=) | |
| 11 | g.45806125C>G | CA474036587 | SLC35C1 | c.285C>G (p.Arg95=) c.324C>G (p.Arg108=) | dbSNP |
| 11 | g.45806125C>T | CA5958221 | SLC35C1 | c.285C>T (p.Arg95=) c.324C>T (p.Arg108=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.45806126C>A | CA380202744 | SLC35C1 | c.286C>A (p.Leu96Met) c.325C>A (p.Leu109Met) | |
| 11 | g.45806126C= | CA1968693016 | SLC35C1 | c.286C= (p.Leu96=) c.325C= (p.Leu109=) | |
| 11 | g.45806126C>G | CA380202745 | SLC35C1 | c.286C>G (p.Leu96Val) c.325C>G (p.Leu109Val) | ClinVar dbSNP gnomAD v4 |
| 11 | g.45806126C>T | CA5958222 | SLC35C1 | c.286C>T (p.Leu96=) c.325C>T (p.Leu109=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.45806127T>A | CA380202746 | SLC35C1 | c.287T>A (p.Leu96Gln) c.326T>A (p.Leu109Gln) | |
| 11 | g.45806127T>C | CA380202747 | SLC35C1 | c.287T>C (p.Leu96Pro) c.326T>C (p.Leu109Pro) | |
| 11 | g.45806127T>G | CA380202748 | SLC35C1 | c.287T>G (p.Leu96Arg) c.326T>G (p.Leu109Arg) | |
| 11 | g.45806128G>A | CA474036589 | SLC35C1 | c.288G>A (p.Leu96=) c.327G>A (p.Leu109=) | |
| 11 | g.45806128G>C | CA474036590 | SLC35C1 | c.288G>C (p.Leu96=) c.327G>C (p.Leu109=) | |
| 11 | g.45806128G>T | CA474036591 | SLC35C1 | c.288G>T (p.Leu96=) c.327G>T (p.Leu109=) | gnomAD v4 |
| 11 | g.45806129G>A | CA380202749 | SLC35C1 | c.289G>A (p.Asp97Asn) c.328G>A (p.Asp110Asn) | COSMIC |
| 11 | g.45806129G>C | CA380202750 | SLC35C1 | c.289G>C (p.Asp97His) c.328G>C (p.Asp110His) | |
| 11 | g.45806129G>T | CA380202751 | SLC35C1 | c.289G>T (p.Asp97Tyr) c.328G>T (p.Asp110Tyr) | gnomAD v4 |
| 11 | g.45806130A= | CA1968693017 | SLC35C1 | c.290A= (p.Asp97=) c.329A= (p.Asp110=) | |
| 11 | g.45806130A>C | CA380202752 | SLC35C1 | c.290A>C (p.Asp97Ala) c.329A>C (p.Asp110Ala) | dbSNP |
| 11 | g.45806130A>G | CA380202753 | SLC35C1 | c.290A>G (p.Asp97Gly) c.329A>G (p.Asp110Gly) | |
| 11 | g.45806130A>T | CA380202754 | SLC35C1 | c.290A>T (p.Asp97Val) c.329A>T (p.Asp110Val) | gnomAD v4 |
| 11 | g.45806131C>A | CA380202755 | SLC35C1 | c.291C>A (p.Asp97Glu) c.330C>A (p.Asp110Glu) | |
| 11 | g.45806131C= | CA1968693018 | SLC35C1 | c.291C= (p.Asp97=) c.330C= (p.Asp110=) | |
| 11 | g.45806131C>G | CA380202756 | SLC35C1 | c.291C>G (p.Asp97Glu) c.330C>G (p.Asp110Glu) | ClinVar dbSNP gnomAD v4 |
| 11 | g.45806131C>T | CA5958223 | SLC35C1 | c.291C>T (p.Asp97=) c.330C>T (p.Asp110=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.45806132C>A | CA380202757 | SLC35C1 | c.292C>A (p.Leu98Ile) c.331C>A (p.Leu111Ile) | |
| 11 | g.45806132C>G | CA380202758 | SLC35C1 | c.292C>G (p.Leu98Val) c.331C>G (p.Leu111Val) | |
| 11 | g.45806132C>T | CA380202759 | SLC35C1 | c.292C>T (p.Leu98Phe) c.331C>T (p.Leu111Phe) | gnomAD v4 |
| 11 | g.45806133T>A | CA380202760 | SLC35C1 | c.293T>A (p.Leu98His) c.332T>A (p.Leu111His) | |
| 11 | g.45806133T>C | CA380202761 | SLC35C1 | c.293T>C (p.Leu98Pro) c.332T>C (p.Leu111Pro) | |
| 11 | g.45806133T>G | CA380202762 | SLC35C1 | c.293T>G (p.Leu98Arg) c.332T>G (p.Leu111Arg) | |
| 11 | g.45806134C>A | CA5958224 | SLC35C1 | c.294C>A (p.Leu98=) c.333C>A (p.Leu111=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.45806134C= | CA1968693019 | SLC35C1 | c.294C= (p.Leu98=) c.333C= (p.Leu111=) | |
| 11 | g.45806134C>G | CA474036601 | SLC35C1 | c.294C>G (p.Leu98=) c.333C>G (p.Leu111=) | |
| 11 | g.45806134C>T | CA474036600 | SLC35C1 | c.294C>T (p.Leu98=) c.333C>T (p.Leu111=) | |
| 11 | g.45806135A>C | CA474036605 | SLC35C1 | c.295A>C (p.Arg99=) c.334A>C (p.Arg112=) | |
| 11 | g.45806135A>G | CA380202763 | SLC35C1 | c.295A>G (p.Arg99Gly) c.334A>G (p.Arg112Gly) | gnomAD v4 |
| 11 | g.45806135A>T | CA380202764 | SLC35C1 | c.295A>T (p.Arg99Trp) c.334A>T (p.Arg112Trp) | |
| 11 | g.45806136G>A | CA380202765 | SLC35C1 | c.296G>A (p.Arg99Lys) c.335G>A (p.Arg112Lys) | |
| 11 | g.45806136G>C | CA5958225 | SLC35C1 | c.296G>C (p.Arg99Thr) c.335G>C (p.Arg112Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.45806136G= | CA1968693020 | SLC35C1 | c.296G= (p.Arg99=) c.335G= (p.Arg112=) | |
| 11 | g.45806136G>T | CA380202766 | SLC35C1 | c.296G>T (p.Arg99Met) c.335G>T (p.Arg112Met) | gnomAD v4 |
| 11 | g.45806137G>A | CA474036608 | SLC35C1 | c.297G>A (p.Arg99=) c.336G>A (p.Arg112=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.45806137G>C | CA380202767 | SLC35C1 | c.297G>C (p.Arg99Ser) c.336G>C (p.Arg112Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.45806137G= | CA1968693021 | SLC35C1 | c.297G= (p.Arg99=) c.336G= (p.Arg112=) | |
| 11 | g.45806137G>T | CA380202768 | SLC35C1 | c.297G>T (p.Arg99Ser) c.336G>T (p.Arg112Ser) | |
| 11 | g.45806138G>A | CA380202771 | SLC35C1 | c.298G>A (p.Val100Met) c.337G>A (p.Val113Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.45806138G>C | CA380202769 | SLC35C1 | c.298G>C (p.Val100Leu) c.337G>C (p.Val113Leu) | |
| 11 | g.45806138G= | CA1968693022 | SLC35C1 | c.298G= (p.Val100=) c.337G= (p.Val113=) | |
| 11 | g.45806138G>T | CA380202770 | SLC35C1 | c.298G>T (p.Val100Leu) c.337G>T (p.Val113Leu) | gnomAD v4 |
| 11 | g.45806139T>A | CA380202772 | SLC35C1 | c.299T>A (p.Val100Glu) c.338T>A (p.Val113Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.45806139T>C | CA380202773 | SLC35C1 | c.299T>C (p.Val100Ala) c.338T>C (p.Val113Ala) | |
| 11 | g.45806139T>G | CA380202774 | SLC35C1 | c.299T>G (p.Val100Gly) c.338T>G (p.Val113Gly) | |
| 11 | g.45806139T= | CA1968693023 | SLC35C1 | c.299T= (p.Val100=) c.338T= (p.Val113=) | |
| 11 | g.45806140G>A | CA474036610 | SLC35C1 | c.300G>A (p.Val100=) c.339G>A (p.Val113=) | |
| 11 | g.45806140G>C | CA474036611 | SLC35C1 | c.300G>C (p.Val100=) c.339G>C (p.Val113=) | |
| 11 | g.45806140G>T | CA474036612 | SLC35C1 | c.300G>T (p.Val100=) c.339G>T (p.Val113=) | |
| 11 | g.45806141G>A | CA380202775 | SLC35C1 | c.301G>A (p.Ala101Thr) c.340G>A (p.Ala114Thr) | gnomAD v4 |
| 11 | g.45806141G>C | CA5958226 | SLC35C1 | c.301G>C (p.Ala101Pro) c.340G>C (p.Ala114Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.45806141G= | CA1968693024 | SLC35C1 | c.301G= (p.Ala101=) c.340G= (p.Ala114=) | |
| 11 | g.45806141G>T | CA380202776 | SLC35C1 | c.301G>T (p.Ala101Ser) c.340G>T (p.Ala114Ser) | gnomAD v4 |
| 11 | g.45806141_45806142delinsGC | CA1968693025 | SLC35C1 | c.301_302delinsGC (p.Ala101=) c.340_341delinsGC (p.Ala114=) | |
| 11 | g.45806142C>A | CA380202777 | SLC35C1 | c.302C>A (p.Ala101Asp) c.341C>A (p.Ala114Asp) | gnomAD v4 |
| 11 | g.45806142C>G | CA380202778 | SLC35C1 | c.302C>G (p.Ala101Gly) c.341C>G (p.Ala114Gly) | |
| 11 | g.45806142C>T | CA380202779 | SLC35C1 | c.302C>T (p.Ala101Val) c.341C>T (p.Ala114Val) | gnomAD v4 |
| 11 | g.45806144del | CA676889479 | SLC35C1 | c.304del (p.Arg102AlafsTer13) c.343del (p.Arg115AlafsTer13) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.45806143C>A | CA474036613 | SLC35C1 | c.303C>A (p.Ala101=) c.342C>A (p.Ala114=) | |
| 11 | g.45806143C>G | CA474036614 | SLC35C1 | c.303C>G (p.Ala101=) c.342C>G (p.Ala114=) | |
| 11 | g.45806143C>T | CA474036615 | SLC35C1 | c.303C>T (p.Ala101=) c.342C>T (p.Ala114=) | gnomAD v4 |
| 11 | g.45806144C>A | CA380202780 | SLC35C1 | c.304C>A (p.Arg102Ser) c.343C>A (p.Arg115Ser) | |
| 11 | g.45806144C= | CA1968693026 | SLC35C1 | c.304C= (p.Arg102=) c.343C= (p.Arg115=) | |
| 11 | g.45806144C>G | CA380202781 | SLC35C1 | c.304C>G (p.Arg102Gly) c.343C>G (p.Arg115Gly) | |
| 11 | g.45806144C>T | CA380202782 | SLC35C1 | c.304C>T (p.Arg102Cys) c.343C>T (p.Arg115Cys) | dbSNP gnomAD v4 |
| 11 | g.45806145G>A | CA5958227 | SLC35C1 | c.305G>A (p.Arg102His) c.344G>A (p.Arg115His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.45806145G>C | CA380202784 | SLC35C1 | c.305G>C (p.Arg102Pro) c.344G>C (p.Arg115Pro) | |
| 11 | g.45806145G= | CA1968693027 | SLC35C1 | c.305G= (p.Arg102=) c.344G= (p.Arg115=) | |
| 11 | g.45806145G>T | CA380202783 | SLC35C1 | c.305G>T (p.Arg102Leu) c.344G>T (p.Arg115Leu) | gnomAD v4 |
| 11 | g.45806146C>A | CA474036616 | SLC35C1 | c.306C>A (p.Arg102=) c.345C>A (p.Arg115=) | |
| 11 | g.45806146C= | CA1968693028 | SLC35C1 | c.306C= (p.Arg102=) c.345C= (p.Arg115=) | |
| 11 | g.45806146C>G | CA474036617 | SLC35C1 | c.306C>G (p.Arg102=) c.345C>G (p.Arg115=) | |
| 11 | g.45806146C>T | CA474036618 | SLC35C1 | c.306C>T (p.Arg102=) c.345C>T (p.Arg115=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.45806147A>C | CA380202785 | SLC35C1 | c.307A>C (p.Ser103Arg) c.346A>C (p.Ser116Arg) | |
| 11 | g.45806147A>G | CA380202786 | SLC35C1 | c.307A>G (p.Ser103Gly) c.346A>G (p.Ser116Gly) | |
| 11 | g.45806147A>T | CA380202787 | SLC35C1 | c.307A>T (p.Ser103Cys) c.346A>T (p.Ser116Cys) | |
| 11 | g.45806148G>A | CA380202788 | SLC35C1 | c.308G>A (p.Ser103Asn) c.347G>A (p.Ser116Asn) | gnomAD v4 |
| 11 | g.45806148G>C | CA380202789 | SLC35C1 | c.308G>C (p.Ser103Thr) c.347G>C (p.Ser116Thr) | |
| 11 | g.45806148G>T | CA380202790 | SLC35C1 | c.308G>T (p.Ser103Ile) c.347G>T (p.Ser116Ile) | gnomAD v4 |
| 11 | g.45806149C>A | CA380202791 | SLC35C1 | c.309C>A (p.Ser103Arg) c.348C>A (p.Ser116Arg) | |
| 11 | g.45806149C= | CA1968693029 | SLC35C1 | c.309C= (p.Ser103=) c.348C= (p.Ser116=) | |
| 11 | g.45806149C>G | CA380202792 | SLC35C1 | c.309C>G (p.Ser103Arg) c.348C>G (p.Ser116Arg) | |
| 11 | g.45806149C>T | CA5958228 | SLC35C1 | c.309C>T (p.Ser103=) c.348C>T (p.Ser116=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.45806150G>A | CA380202793 | SLC35C1 | c.310G>A (p.Val104Ile) c.349G>A (p.Val117Ile) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.45806150G>C | CA380202794 | SLC35C1 | c.310G>C (p.Val104Leu) c.349G>C (p.Val117Leu) | |
| 11 | g.45806150G= | CA1968693030 | SLC35C1 | c.310G= (p.Val104=) c.349G= (p.Val117=) | |
| 11 | g.45806150G>T | CA380202795 | SLC35C1 | c.310G>T (p.Val104Phe) c.349G>T (p.Val117Phe) | |
| 11 | g.45806151T>A | CA380202798 | SLC35C1 | c.311T>A (p.Val104Asp) c.350T>A (p.Val117Asp) | |
| 11 | g.45806151T>C | CA380202796 | SLC35C1 | c.311T>C (p.Val104Ala) c.350T>C (p.Val117Ala) | |
| 11 | g.45806151T>G | CA380202797 | SLC35C1 | c.311T>G (p.Val104Gly) c.350T>G (p.Val117Gly) | |
| 11 | g.45806152C>A | CA474036619 | SLC35C1 | c.312C>A (p.Val104=) c.351C>A (p.Val117=) | |
| 11 | g.45806152C>G | CA474036620 | SLC35C1 | c.312C>G (p.Val104=) c.351C>G (p.Val117=) | |
| 11 | g.45806152C>T | CA474036621 | SLC35C1 | c.312C>T (p.Val104=) c.351C>T (p.Val117=) | |
| 11 | g.45806153C>A | CA380202799 | SLC35C1 | c.313C>A (p.Leu105Met) c.352C>A (p.Leu118Met) | |
| 11 | g.45806153C>G | CA380202800 | SLC35C1 | c.313C>G (p.Leu105Val) c.352C>G (p.Leu118Val) | |
| 11 | g.45806153C>T | CA474036622 | SLC35C1 | c.313C>T (p.Leu105=) c.352C>T (p.Leu118=) | |
| 11 | g.45806154T>A | CA380202801 | SLC35C1 | c.314T>A (p.Leu105Gln) c.353T>A (p.Leu118Gln) | |
| 11 | g.45806154T>C | CA380202802 | SLC35C1 | c.314T>C (p.Leu105Pro) c.353T>C (p.Leu118Pro) | |
| 11 | g.45806154T>G | CA380202803 | SLC35C1 | c.314T>G (p.Leu105Arg) c.353T>G (p.Leu118Arg) | |
| 11 | g.45806155G>A | CA5958229 | SLC35C1 | c.315G>A (p.Leu105=) c.354G>A (p.Leu118=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.45806155G>C | CA474036624 | SLC35C1 | c.315G>C (p.Leu105=) c.354G>C (p.Leu118=) | |
| 11 | g.45806155G= | CA1968693031 | SLC35C1 | c.315G= (p.Leu105=) c.354G= (p.Leu118=) | |
| 11 | g.45806155G>T | CA474036623 | SLC35C1 | c.315G>T (p.Leu105=) c.354G>T (p.Leu118=) | gnomAD v4 |
| 11 | g.45806156C>A | CA380202804 | SLC35C1 | c.316C>A (p.Pro106Thr) c.355C>A (p.Pro119Thr) | |
| 11 | g.45806156C= | CA1968693032 | SLC35C1 | c.316C= (p.Pro106=) c.355C= (p.Pro119=) | |
| 11 | g.45806156C>G | CA380202805 | SLC35C1 | c.316C>G (p.Pro106Ala) c.355C>G (p.Pro119Ala) | |
| 11 | g.45806156C>T | CA221585276 | SLC35C1 | c.316C>T (p.Pro106Ser) c.355C>T (p.Pro119Ser) | dbSNP gnomAD v4 |
| 11 | g.45806157C>A | CA380202806 | SLC35C1 | c.317C>A (p.Pro106His) c.356C>A (p.Pro119His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.45806157C= | CA1968693033 | SLC35C1 | c.317C= (p.Pro106=) c.356C= (p.Pro119=) | |
| 11 | g.45806157C>G | CA380202807 | SLC35C1 | c.317C>G (p.Pro106Arg) c.356C>G (p.Pro119Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.45806157C>T | CA380202808 | SLC35C1 | c.317C>T (p.Pro106Leu) c.356C>T (p.Pro119Leu) | dbSNP gnomAD v2 |
| 11 | g.45806158C>A | CA474036625 | SLC35C1 | c.318C>A (p.Pro106=) c.357C>A (p.Pro119=) | gnomAD v4 |
| 11 | g.45806158C>G | CA474036626 | SLC35C1 | c.318C>G (p.Pro106=) c.357C>G (p.Pro119=) | gnomAD v4 |
| 11 | g.45806158C>T | CA474036627 | SLC35C1 | c.318C>T (p.Pro106=) c.357C>T (p.Pro119=) | ClinVar |
| 11 | g.45806159C>A | CA380202809 | SLC35C1 | c.319C>A (p.Leu107Met) c.358C>A (p.Leu120Met) | |
| 11 | g.45806159C= | CA1968693034 | SLC35C1 | c.319C= (p.Leu107=) c.358C= (p.Leu120=) | |
| 11 | g.45806159C>G | CA380202810 | SLC35C1 | c.319C>G (p.Leu107Val) c.358C>G (p.Leu120Val) | |
| 11 | g.45806159C>T | CA474036628 | SLC35C1 | c.319C>T (p.Leu107=) c.358C>T (p.Leu120=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.45806160T>A | CA380202811 | SLC35C1 | c.320T>A (p.Leu107Gln) c.359T>A (p.Leu120Gln) | |
| 11 | g.45806160T>C | CA380202813 | SLC35C1 | c.320T>C (p.Leu107Pro) c.359T>C (p.Leu120Pro) | |
| 11 | g.45806160T>G | CA380202812 | SLC35C1 | c.320T>G (p.Leu107Arg) c.359T>G (p.Leu120Arg) | |
| 11 | g.45806161G>A | CA474036629 | SLC35C1 | c.321G>A (p.Leu107=) c.360G>A (p.Leu120=) | ClinVar dbSNP |
| 11 | g.45806161G>C | CA474036630 | SLC35C1 | c.321G>C (p.Leu107=) c.360G>C (p.Leu120=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.45806161G= | CA1968693035 | SLC35C1 | c.321G= (p.Leu107=) c.360G= (p.Leu120=) | |
| 11 | g.45806161G>T | CA474036631 | SLC35C1 | c.321G>T (p.Leu107=) c.360G>T (p.Leu120=) | gnomAD v4 |
| 11 | g.45806162T>A | CA380202814 | SLC35C1 | c.322T>A (p.Ser108Thr) c.361T>A (p.Ser121Thr) | |
| 11 | g.45806162T>C | CA380202815 | SLC35C1 | c.322T>C (p.Ser108Pro) c.361T>C (p.Ser121Pro) | |
| 11 | g.45806162T>G | CA380202816 | SLC35C1 | c.322T>G (p.Ser108Ala) c.361T>G (p.Ser121Ala) | |
| 11 | g.45806163C>A | CA380202817 | SLC35C1 | c.323C>A (p.Ser108Ter) c.362C>A (p.Ser121Ter) | gnomAD v4 |
| 11 | g.45806163C= | CA1968693036 | SLC35C1 | c.323C= (p.Ser108=) c.362C= (p.Ser121=) | |
| 11 | g.45806163C>G | CA380202818 | SLC35C1 | c.323C>G (p.Ser108Trp) c.362C>G (p.Ser121Trp) | |
| 11 | g.45806163C>T | CA221585282 | SLC35C1 | c.323C>T (p.Ser108Leu) c.362C>T (p.Ser121Leu) | dbSNP gnomAD v4 |
| 11 | g.45806164G>A | CA5958231 | SLC35C1 | c.324G>A (p.Ser108=) c.363G>A (p.Ser121=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.45806164G>C | CA474036632 | SLC35C1 | c.324G>C (p.Ser108=) c.363G>C (p.Ser121=) | |
| 11 | g.45806164G= | CA1968693037 | SLC35C1 | c.324G= (p.Ser108=) c.363G= (p.Ser121=) | |
| 11 | g.45806164G>T | CA5958230 | SLC35C1 | c.324G>T (p.Ser108=) c.363G>T (p.Ser121=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.45806165G>A | CA380202819 | SLC35C1 | c.325G>A (p.Val109Met) c.364G>A (p.Val122Met) | gnomAD v4 |
| 11 | g.45806165G>C | CA380202820 | SLC35C1 | c.325G>C (p.Val109Leu) c.364G>C (p.Val122Leu) | |
| 11 | g.45806165G>T | CA380202821 | SLC35C1 | c.325G>T (p.Val109Leu) c.364G>T (p.Val122Leu) | |
| 11 | g.45806166T>A | CA221585329 | SLC35C1 | c.326T>A (p.Val109Glu) c.365T>A (p.Val122Glu) | dbSNP |
| 11 | g.45806166T>C | CA380202822 | SLC35C1 | c.326T>C (p.Val109Ala) c.365T>C (p.Val122Ala) | |
| 11 | g.45806166T>G | CA380202823 | SLC35C1 | c.326T>G (p.Val109Gly) c.365T>G (p.Val122Gly) | |
| 11 | g.45806166T= | CA1968693038 | SLC35C1 | c.326T= (p.Val109=) c.365T= (p.Val122=) | |
| 11 | g.45806166_45806167delinsTG | CA1968693039 | SLC35C1 | c.326_327delinsTG (p.Val109=) c.365_366delinsTG (p.Val122=) | |
| 11 | g.45806167G>A | CA474036633 | SLC35C1 | c.327G>A (p.Val109=) c.366G>A (p.Val122=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.45806167G>C | CA474036634 | SLC35C1 | c.327G>C (p.Val109=) c.366G>C (p.Val122=) | |
| 11 | g.45806167G= | CA1968693040 | SLC35C1 | c.327G= (p.Val109=) c.366G= (p.Val122=) | |
| 11 | g.45806167G>T | CA221585336 | SLC35C1 | c.327G>T (p.Val109=) c.366G>T (p.Val122=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.45806168del | CA916080423 | SLC35C1 | c.328del (p.Val110SerfsTer5) c.367del (p.Val123SerfsTer5) | ClinVar dbSNP gnomAD v4 |
| 11 | g.45806168G>A | CA380202826 | SLC35C1 | c.328G>A (p.Val110Ile) c.367G>A (p.Val123Ile) | dbSNP gnomAD v4 |
| 11 | g.45806168G>C | CA380202825 | SLC35C1 | c.328G>C (p.Val110Leu) c.367G>C (p.Val123Leu) | |
| 11 | g.45806168G= | CA1968693041 | SLC35C1 | c.328G= (p.Val110=) c.367G= (p.Val123=) | |
| 11 | g.45806168G>T | CA380202824 | SLC35C1 | c.328G>T (p.Val110Phe) c.367G>T (p.Val123Phe) | gnomAD v4 |
| 11 | g.45806169T>A | CA380202827 | SLC35C1 | c.329T>A (p.Val110Asp) c.368T>A (p.Val123Asp) | |
| 11 | g.45806169T>C | CA380202828 | SLC35C1 | c.329T>C (p.Val110Ala) c.368T>C (p.Val123Ala) | |
| 11 | g.45806169T>G | CA380202829 | SLC35C1 | c.329T>G (p.Val110Gly) c.368T>G (p.Val123Gly) | gnomAD v4 |
| 11 | g.45806170C>A | CA474036635 | SLC35C1 | c.330C>A (p.Val110=) c.369C>A (p.Val123=) | |
| 11 | g.45806170C>G | CA474036637 | SLC35C1 | c.330C>G (p.Val110=) c.369C>G (p.Val123=) | |
| 11 | g.45806170C>T | CA474036636 | SLC35C1 | c.330C>T (p.Val110=) c.369C>T (p.Val123=) | gnomAD v4 |
| 11 | g.45806171T>A | CA380202830 | SLC35C1 | c.331T>A (p.Phe111Ile) c.370T>A (p.Phe124Ile) | |
| 11 | g.45806171T>C | CA380202831 | SLC35C1 | c.331T>C (p.Phe111Leu) c.370T>C (p.Phe124Leu) | COSMIC |
| 11 | g.45806171T>G | CA380202832 | SLC35C1 | c.331T>G (p.Phe111Val) c.370T>G (p.Phe124Val) | |
| 11 | g.45806172T>A | CA380202833 | SLC35C1 | c.332T>A (p.Phe111Tyr) c.371T>A (p.Phe124Tyr) | gnomAD v4 |
| 11 | g.45806172T>C | CA380202834 | SLC35C1 | c.332T>C (p.Phe111Ser) c.371T>C (p.Phe124Ser) | gnomAD v4 |
| 11 | g.45806172T>G | CA380202835 | SLC35C1 | c.332T>G (p.Phe111Cys) c.371T>G (p.Phe124Cys) | |
| 11 | g.45806173C>A | CA380202836 | SLC35C1 | c.333C>A (p.Phe111Leu) c.372C>A (p.Phe124Leu) | |
| 11 | g.45806173C= | CA1968693042 | SLC35C1 | c.333C= (p.Phe111=) c.372C= (p.Phe124=) | |
| 11 | g.45806173C>G | CA380202837 | SLC35C1 | c.333C>G (p.Phe111Leu) c.372C>G (p.Phe124Leu) | |
| 11 | g.45806173C>T | CA474036638 | SLC35C1 | c.333C>T (p.Phe111=) c.372C>T (p.Phe124=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.45806174A= | CA1968693043 | SLC35C1 | c.334A= (p.Ile112=) c.373A= (p.Ile125=) | |
| 11 | g.45806174A>C | CA380202838 | SLC35C1 | c.334A>C (p.Ile112Leu) c.373A>C (p.Ile125Leu) | |
| 11 | g.45806174A>G | CA5958232 | SLC35C1 | c.334A>G (p.Ile112Val) c.373A>G (p.Ile125Val) | dbSNP ExAC gnomAD v4 |
| 11 | g.45806174A>T | CA380202839 | SLC35C1 | c.334A>T (p.Ile112Phe) c.373A>T (p.Ile125Phe) | |
| 11 | g.45806175T>A | CA380202841 | SLC35C1 | c.335T>A (p.Ile112Asn) c.374T>A (p.Ile125Asn) | |
| 11 | g.45806175T>C | CA380202842 | SLC35C1 | c.335T>C (p.Ile112Thr) c.374T>C (p.Ile125Thr) | dbSNP gnomAD v4 |
| 11 | g.45806175T>G | CA380202840 | SLC35C1 | c.335T>G (p.Ile112Ser) c.374T>G (p.Ile125Ser) | |
| 11 | g.45806175T= | CA1968693044 | SLC35C1 | c.335T= (p.Ile112=) c.374T= (p.Ile125=) | |
| 11 | g.45806176C>A | CA474036639 | SLC35C1 | c.336C>A (p.Ile112=) c.375C>A (p.Ile125=) | |
| 11 | g.45806176C= | CA1968693045 | SLC35C1 | c.336C= (p.Ile112=) c.375C= (p.Ile125=) | |
| 11 | g.45806176C>G | CA380202843 | SLC35C1 | c.336C>G (p.Ile112Met) c.375C>G (p.Ile125Met) | ClinVar dbSNP |
| 11 | g.45806176C>T | CA5958233 | SLC35C1 | c.336C>T (p.Ile112=) c.375C>T (p.Ile125=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.45806177G>A | CA5958234 | SLC35C1 | c.337G>A (p.Gly113Ser) c.376G>A (p.Gly126Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.45806177G>C | CA380202844 | SLC35C1 | c.337G>C (p.Gly113Arg) c.376G>C (p.Gly126Arg) | |
| 11 | g.45806177G= | CA1968693046 | SLC35C1 | c.337G= (p.Gly113=) c.376G= (p.Gly126=) | |
| 11 | g.45806177G>T | CA380202845 | SLC35C1 | c.337G>T (p.Gly113Cys) c.376G>T (p.Gly126Cys) | gnomAD v4 |
| 11 | g.45806178G>A | CA380202846 | SLC35C1 | c.338G>A (p.Gly113Asp) c.377G>A (p.Gly126Asp) | ClinVar dbSNP |
| 11 | g.45806178G>C | CA380202847 | SLC35C1 | c.338G>C (p.Gly113Ala) c.377G>C (p.Gly126Ala) | |
| 11 | g.45806178G= | CA1968693047 | SLC35C1 | c.338G= (p.Gly113=) c.377G= (p.Gly126=) | |
| 11 | g.45806178G>T | CA380202848 | SLC35C1 | c.338G>T (p.Gly113Val) c.377G>T (p.Gly126Val) | gnomAD v4 |
| 11 | g.45806179C>A | CA474036641 | SLC35C1 | c.339C>A (p.Gly113=) c.378C>A (p.Gly126=) | |
| 11 | g.45806179C= | CA1968693048 | SLC35C1 | c.339C= (p.Gly113=) c.378C= (p.Gly126=) | |
| 11 | g.45806179C>G | CA474036640 | SLC35C1 | c.339C>G (p.Gly113=) c.378C>G (p.Gly126=) | |
| 11 | g.45806179C>T | CA5958235 | SLC35C1 | c.339C>T (p.Gly113=) c.378C>T (p.Gly126=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.45806180A>C | CA380202849 | SLC35C1 | c.340A>C (p.Met114Leu) c.379A>C (p.Met127Leu) | |
| 11 | g.45806180A>G | CA380202850 | SLC35C1 | c.340A>G (p.Met114Val) c.379A>G (p.Met127Val) | gnomAD v4 |
| 11 | g.45806180A>T | CA380202851 | SLC35C1 | c.340A>T (p.Met114Leu) c.379A>T (p.Met127Leu) | |
| 11 | g.45806181T>A | CA380202853 | SLC35C1 | c.341T>A (p.Met114Lys) c.380T>A (p.Met127Lys) | |
| 11 | g.45806181T>C | CA221585367 | SLC35C1 | c.341T>C (p.Met114Thr) c.380T>C (p.Met127Thr) | dbSNP |
| 11 | g.45806181T>G | CA380202852 | SLC35C1 | c.341T>G (p.Met114Arg) c.380T>G (p.Met127Arg) | gnomAD v4 |
| 11 | g.45806181T= | CA1968693049 | SLC35C1 | c.341T= (p.Met114=) c.380T= (p.Met127=) | |
| 11 | g.45806182G>A | CA380202854 | SLC35C1 | c.342G>A (p.Met114Ile) c.381G>A (p.Met127Ile) | |
| 11 | g.45806182G>C | CA380202855 | SLC35C1 | c.342G>C (p.Met114Ile) c.381G>C (p.Met127Ile) | |
| 11 | g.45806182G>T | CA380202856 | SLC35C1 | c.342G>T (p.Met114Ile) c.381G>T (p.Met127Ile) | ClinVar |
| 11 | g.45806183A= | CA1968693050 | SLC35C1 | c.343A= (p.Ile115=) c.382A= (p.Ile128=) | |
| 11 | g.45806183A>C | CA380202857 | SLC35C1 | c.343A>C (p.Ile115Leu) c.382A>C (p.Ile128Leu) | |
| 11 | g.45806183A>G | CA380202858 | SLC35C1 | c.343A>G (p.Ile115Val) c.382A>G (p.Ile128Val) | dbSNP |
| 11 | g.45806183A>T | CA380202859 | SLC35C1 | c.343A>T (p.Ile115Phe) c.382A>T (p.Ile128Phe) | gnomAD v4 |
| 11 | g.45806184T>A | CA380202860 | SLC35C1 | c.344T>A (p.Ile115Asn) c.383T>A (p.Ile128Asn) | gnomAD v4 |
| 11 | g.45806184T>C | CA380202862 | SLC35C1 | c.344T>C (p.Ile115Thr) c.383T>C (p.Ile128Thr) | |
| 11 | g.45806184T>G | CA380202861 | SLC35C1 | c.344T>G (p.Ile115Ser) c.383T>G (p.Ile128Ser) | |
| 11 | g.45806185C>A | CA474036642 | SLC35C1 | c.345C>A (p.Ile115=) c.384C>A (p.Ile128=) | |
| 11 | g.45806185C>G | CA380202863 | SLC35C1 | c.345C>G (p.Ile115Met) c.384C>G (p.Ile128Met) | gnomAD v4 |
| 11 | g.45806185C>T | CA474036643 | SLC35C1 | c.345C>T (p.Ile115=) c.384C>T (p.Ile128=) | |
| 11 | g.45806186A= | CA1968693051 | SLC35C1 | c.346A= (p.Thr116=) c.385A= (p.Thr129=) | |
| 11 | g.45806186A>C | CA380202864 | SLC35C1 | c.346A>C (p.Thr116Pro) c.385A>C (p.Thr129Pro) | dbSNP |
| 11 | g.45806186A>G | CA221585384 | SLC35C1 | c.346A>G (p.Thr116Ala) c.385A>G (p.Thr129Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.45806186A>T | CA380202865 | SLC35C1 | c.346A>T (p.Thr116Ser) c.385A>T (p.Thr129Ser) | |
| 11 | g.45806187C>A | CA380202868 | SLC35C1 | c.347C>A (p.Thr116Asn) c.386C>A (p.Thr129Asn) | |
| 11 | g.45806187C= | CA1968693052 | SLC35C1 | c.347C= (p.Thr116=) c.386C= (p.Thr129=) | |
| 11 | g.45806187C>G | CA380202866 | SLC35C1 | c.347C>G (p.Thr116Ser) c.386C>G (p.Thr129Ser) | |
| 11 | g.45806187C>T | CA380202867 | SLC35C1 | c.347C>T (p.Thr116Ile) c.386C>T (p.Thr129Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.45806188C>A | CA474036644 | SLC35C1 | c.348C>A (p.Thr116=) c.387C>A (p.Thr129=) | |
| 11 | g.45806188C= | CA1968693053 | SLC35C1 | c.348C= (p.Thr116=) c.387C= (p.Thr129=) | |
| 11 | g.45806188C>G | CA474036645 | SLC35C1 | c.348C>G (p.Thr116=) c.387C>G (p.Thr129=) | dbSNP |
| 11 | g.45806188C>T | CA474036646 | SLC35C1 | c.348C>T (p.Thr116=) c.387C>T (p.Thr129=) | dbSNP gnomAD v2 |
| 11 | g.45806189T>A | CA380202869 | SLC35C1 | c.349T>A (p.Phe117Ile) c.388T>A (p.Phe130Ile) | |
| 11 | g.45806189T>C | CA380202870 | SLC35C1 | c.349T>C (p.Phe117Leu) c.388T>C (p.Phe130Leu) | |
| 11 | g.45806189T>G | CA380202871 | SLC35C1 | c.349T>G (p.Phe117Val) c.388T>G (p.Phe130Val) | dbSNP gnomAD v4 |
| 11 | g.45806189T= | CA1968693054 | SLC35C1 | c.349T= (p.Phe117=) c.388T= (p.Phe130=) | |
| 11 | g.45806190T>A | CA380202872 | SLC35C1 | c.350T>A (p.Phe117Tyr) c.389T>A (p.Phe130Tyr) | |
| 11 | g.45806190T>C | CA380202873 | SLC35C1 | c.350T>C (p.Phe117Ser) c.389T>C (p.Phe130Ser) | |
| 11 | g.45806190T>G | CA380202874 | SLC35C1 | c.350T>G (p.Phe117Cys) c.389T>G (p.Phe130Cys) | |
| 11 | g.45806191C>A | CA380202875 | SLC35C1 | c.351C>A (p.Phe117Leu) c.390C>A (p.Phe130Leu) | |
| 11 | g.45806191C>G | CA380202876 | SLC35C1 | c.351C>G (p.Phe117Leu) c.390C>G (p.Phe130Leu) | |
| 11 | g.45806191C>T | CA474036647 | SLC35C1 | c.351C>T (p.Phe117=) c.390C>T (p.Phe130=) | |
| 11 | g.45806192A>C | CA380202877 | SLC35C1 | c.352A>C (p.Asn118His) c.391A>C (p.Asn131His) | |
| 11 | g.45806192A>G | CA380202878 | SLC35C1 | c.352A>G (p.Asn118Asp) c.391A>G (p.Asn131Asp) | gnomAD v4 |
| 11 | g.45806192A>T | CA380202879 | SLC35C1 | c.352A>T (p.Asn118Tyr) c.391A>T (p.Asn131Tyr) | |
| 11 | g.45806193A= | CA1968693055 | SLC35C1 | c.353A= (p.Asn118=) c.392A= (p.Asn131=) | |
| 11 | g.45806193A>C | CA380202880 | SLC35C1 | c.353A>C (p.Asn118Thr) c.392A>C (p.Asn131Thr) | |
| 11 | g.45806193A>G | CA5958236 | SLC35C1 | c.353A>G (p.Asn118Ser) c.392A>G (p.Asn131Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.45806193A>T | CA380202881 | SLC35C1 | c.353A>T (p.Asn118Ile) c.392A>T (p.Asn131Ile) | |
| 11 | g.45806194T>A | CA380202883 | SLC35C1 | c.354T>A (p.Asn118Lys) c.393T>A (p.Asn131Lys) | gnomAD v4 |
| 11 | g.45806194T>C | CA474036648 | SLC35C1 | c.354T>C (p.Asn118=) c.393T>C (p.Asn131=) | |
| 11 | g.45806194T>G | CA380202882 | SLC35C1 | c.354T>G (p.Asn118Lys) c.393T>G (p.Asn131Lys) | |
| 11 | g.45806195A= | CA1968693056 | SLC35C1 | c.355A= (p.Asn119=) c.394A= (p.Asn132=) | |
| 11 | g.45806195A>C | CA380202884 | SLC35C1 | c.355A>C (p.Asn119His) c.394A>C (p.Asn132His) | dbSNP |
| 11 | g.45806195A>G | CA380202885 | SLC35C1 | c.355A>G (p.Asn119Asp) c.394A>G (p.Asn132Asp) | |
| 11 | g.45806195A>T | CA380202886 | SLC35C1 | c.355A>T (p.Asn119Tyr) c.394A>T (p.Asn132Tyr) | gnomAD v4 |
| 11 | g.45806196A= | CA1968693057 | SLC35C1 | c.356A= (p.Asn119=) c.395A= (p.Asn132=) | |
| 11 | g.45806196A>C | CA380202887 | SLC35C1 | c.356A>C (p.Asn119Thr) c.395A>C (p.Asn132Thr) | |
| 11 | g.45806196A>G | CA380202888 | SLC35C1 | c.356A>G (p.Asn119Ser) c.395A>G (p.Asn132Ser) | |
| 11 | g.45806196A>T | CA380202889 | SLC35C1 | c.356A>T (p.Asn119Ile) c.395A>T (p.Asn132Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.45806197C>A | CA380202891 | SLC35C1 | c.357C>A (p.Asn119Lys) c.396C>A (p.Asn132Lys) | |
| 11 | g.45806197C= | CA1968693058 | SLC35C1 | c.357C= (p.Asn119=) c.396C= (p.Asn132=) | |
| 11 | g.45806197C>G | CA380202890 | SLC35C1 | c.357C>G (p.Asn119Lys) c.396C>G (p.Asn132Lys) | dbSNP |
| 11 | g.45806197C>T | CA474036649 | SLC35C1 | c.357C>T (p.Asn119=) c.396C>T (p.Asn132=) | |
| 11 | g.45806198C>A | CA380202892 | SLC35C1 | c.358C>A (p.Leu120Ile) c.397C>A (p.Leu133Ile) | |
| 11 | g.45806198C= | CA1968693059 | SLC35C1 | c.358C= (p.Leu120=) c.397C= (p.Leu133=) | |
| 11 | g.45806198C>G | CA380202893 | SLC35C1 | c.358C>G (p.Leu120Val) c.397C>G (p.Leu133Val) | |
| 11 | g.45806198C>T | CA380202894 | SLC35C1 | c.358C>T (p.Leu120Phe) c.397C>T (p.Leu133Phe) | dbSNP |
| 11 | g.45806199T>A | CA380202895 | SLC35C1 | c.359T>A (p.Leu120His) c.398T>A (p.Leu133His) | |
| 11 | g.45806199T>C | CA380202896 | SLC35C1 | c.359T>C (p.Leu120Pro) c.398T>C (p.Leu133Pro) | |
| 11 | g.45806199T>G | CA380202897 | SLC35C1 | c.359T>G (p.Leu120Arg) c.398T>G (p.Leu133Arg) | |
| 11 | g.45806200C>A | CA474036650 | SLC35C1 | c.360C>A (p.Leu120=) c.399C>A (p.Leu133=) | gnomAD v4 |
| 11 | g.45806200C>G | CA474036652 | SLC35C1 | c.360C>G (p.Leu120=) c.399C>G (p.Leu133=) | |
| 11 | g.45806200C>T | CA474036651 | SLC35C1 | c.360C>T (p.Leu120=) c.399C>T (p.Leu133=) | |
| 11 | g.45806201T>A | CA380202898 | SLC35C1 | c.361T>A (p.Cys121Ser) c.400T>A (p.Cys134Ser) | |
| 11 | g.45806201T>C | CA5958237 | SLC35C1 | c.361T>C (p.Cys121Arg) c.400T>C (p.Cys134Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.45806201T>G | CA380202899 | SLC35C1 | c.361T>G (p.Cys121Gly) c.400T>G (p.Cys134Gly) | |
| 11 | g.45806201T= | CA1968693060 | SLC35C1 | c.361T= (p.Cys121=) c.400T= (p.Cys134=) | |
| 11 | g.45806202G>A | CA380202900 | SLC35C1 | c.362G>A (p.Cys121Tyr) c.401G>A (p.Cys134Tyr) | |
| 11 | g.45806202G>C | CA380202901 | SLC35C1 | c.362G>C (p.Cys121Ser) c.401G>C (p.Cys134Ser) | gnomAD v4 |
| 11 | g.45806202G>T | CA380202902 | SLC35C1 | c.362G>T (p.Cys121Phe) c.401G>T (p.Cys134Phe) | gnomAD v4 |
| 11 | g.45806203C>A | CA380202903 | SLC35C1 | c.363C>A (p.Cys121Ter) c.402C>A (p.Cys134Ter) | |
| 11 | g.45806203C= | CA1968693061 | SLC35C1 | c.363C= (p.Cys121=) c.402C= (p.Cys134=) | |
| 11 | g.45806203C>G | CA380202904 | SLC35C1 | c.363C>G (p.Cys121Trp) c.402C>G (p.Cys134Trp) | |
| 11 | g.45806203C>T | CA221585394 | SLC35C1 | c.363C>T (p.Cys121=) c.402C>T (p.Cys134=) | ClinVar dbSNP |
| 11 | g.45806204C>A | CA380202907 | SLC35C1 | c.364C>A (p.Leu122Ile) c.403C>A (p.Leu135Ile) | |
| 11 | g.45806204C>G | CA380202906 | SLC35C1 | c.364C>G (p.Leu122Val) c.403C>G (p.Leu135Val) | |
| 11 | g.45806204C>T | CA380202905 | SLC35C1 | c.364C>T (p.Leu122Phe) c.403C>T (p.Leu135Phe) | |
| 11 | g.45806205T>A | CA380202908 | SLC35C1 | c.365T>A (p.Leu122His) c.404T>A (p.Leu135His) | |
| 11 | g.45806205T>C | CA380202909 | SLC35C1 | c.365T>C (p.Leu122Pro) c.404T>C (p.Leu135Pro) | |
| 11 | g.45806205T>G | CA380202910 | SLC35C1 | c.365T>G (p.Leu122Arg) c.404T>G (p.Leu135Arg) | |
| 11 | g.45806206C>A | CA474036653 | SLC35C1 | c.366C>A (p.Leu122=) c.405C>A (p.Leu135=) | |
| 11 | g.45806206C>G | CA474036654 | SLC35C1 | c.366C>G (p.Leu122=) c.405C>G (p.Leu135=) | |
| 11 | g.45806206C>T | CA474036655 | SLC35C1 | c.366C>T (p.Leu122=) c.405C>T (p.Leu135=) | gnomAD v4 |
| 11 | g.45806207A>C | CA380202911 | SLC35C1 | c.367A>C (p.Lys123Gln) c.406A>C (p.Lys136Gln) | |
| 11 | g.45806207A>G | CA380202912 | SLC35C1 | c.367A>G (p.Lys123Glu) c.406A>G (p.Lys136Glu) | gnomAD v4 |
| 11 | g.45806207A>T | CA380202913 | SLC35C1 | c.367A>T (p.Lys123Ter) c.406A>T (p.Lys136Ter) | |
| 11 | g.45806208A= | CA1968693062 | SLC35C1 | c.368A= (p.Lys123=) c.407A= (p.Lys136=) | |
| 11 | g.45806208A>C | CA380202914 | SLC35C1 | c.368A>C (p.Lys123Thr) c.407A>C (p.Lys136Thr) | |
| 11 | g.45806208A>G | CA5958238 | SLC35C1 | c.368A>G (p.Lys123Arg) c.407A>G (p.Lys136Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.45806208A>T | CA380202915 | SLC35C1 | c.368A>T (p.Lys123Met) c.407A>T (p.Lys136Met) |