| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.152867580_152867582del | CA341819 | NSDHL | c.696_698del (p.Lys232del) c.744_746del (p.Lys248del) | ClinVar dbSNP |
| X | g.152867580G>A | CA519157529 | NSDHL | c.696G>A (p.Lys232=) c.744G>A (p.Lys248=) | |
| X | g.152867580G>C | CA415286816 | NSDHL | c.696G>C (p.Lys232Asn) c.744G>C (p.Lys248Asn) | gnomAD v4 |
| X | g.152867580G>T | CA415286817 | NSDHL | c.696G>T (p.Lys232Asn) c.744G>T (p.Lys248Asn) | |
| X | g.152867581A>C | CA415286818 | NSDHL | c.697A>C (p.Asn233His) c.745A>C (p.Asn249His) | |
| X | g.152867581A>G | CA415286820 | NSDHL | c.697A>G (p.Asn233Asp) c.745A>G (p.Asn249Asp) | |
| X | g.152867581A>T | CA415286819 | NSDHL | c.697A>T (p.Asn233Tyr) c.745A>T (p.Asn249Tyr) | |
| X | g.152867582A>C | CA415286821 | NSDHL | c.698A>C (p.Asn233Thr) c.746A>C (p.Asn249Thr) | |
| X | g.152867582A>G | CA415286822 | NSDHL | c.698A>G (p.Asn233Ser) c.746A>G (p.Asn249Ser) | |
| X | g.152867582A>T | CA415286823 | NSDHL | c.698A>T (p.Asn233Ile) c.746A>T (p.Asn249Ile) | |
| X | g.152867583C>A | CA415286824 | NSDHL | c.699C>A (p.Asn233Lys) c.747C>A (p.Asn249Lys) | gnomAD v4 |
| X | g.152867583C>G | CA415286825 | NSDHL | c.699C>G (p.Asn233Lys) c.747C>G (p.Asn249Lys) | |
| X | g.152867583C>T | CA519157530 | NSDHL | c.699C>T (p.Asn233=) c.747C>T (p.Asn249=) | |
| X | g.152867584T>A | CA415286826 | NSDHL | c.700T>A (p.Leu234Met) c.748T>A (p.Leu250Met) | |
| X | g.152867584T>C | CA519157531 | NSDHL | c.700T>C (p.Leu234=) c.748T>C (p.Leu250=) | |
| X | g.152867584T>G | CA415286827 | NSDHL | c.700T>G (p.Leu234Val) c.748T>G (p.Leu250Val) | |
| X | g.152867585T>A | CA415286828 | NSDHL | c.701T>A (p.Leu234Ter) c.749T>A (p.Leu250Ter) | |
| X | g.152867585T>C | CA415286829 | NSDHL | c.701T>C (p.Leu234Ser) c.749T>C (p.Leu250Ser) | |
| X | g.152867585T>G | CA415286830 | NSDHL | c.701T>G (p.Leu234Trp) c.749T>G (p.Leu250Trp) | |
| X | g.152867586G>A | CA519157532 | NSDHL | c.702G>A (p.Leu234=) c.750G>A (p.Leu250=) | |
| X | g.152867586G>C | CA415286831 | NSDHL | c.702G>C (p.Leu234Phe) c.750G>C (p.Leu250Phe) | |
| X | g.152867586G>T | CA415286832 | NSDHL | c.702G>T (p.Leu234Phe) c.750G>T (p.Leu250Phe) | |
| X | g.152867587G>A | CA415286835 | NSDHL | c.703G>A (p.Val235Met) c.751G>A (p.Val251Met) | |
| X | g.152867587G>C | CA415286833 | NSDHL | c.703G>C (p.Val235Leu) c.751G>C (p.Val251Leu) | |
| X | g.152867587G>T | CA415286834 | NSDHL | c.703G>T (p.Val235Leu) c.751G>T (p.Val251Leu) | |
| X | g.152867588T>A | CA415286836 | NSDHL | c.704T>A (p.Val235Glu) c.752T>A (p.Val251Glu) | |
| X | g.152867588T>C | CA415286837 | NSDHL | c.704T>C (p.Val235Ala) c.752T>C (p.Val251Ala) | |
| X | g.152867588T>G | CA415286838 | NSDHL | c.704T>G (p.Val235Gly) c.752T>G (p.Val251Gly) | |
| X | g.152867589G>A | CA519157533 | NSDHL | c.705G>A (p.Val235=) c.753G>A (p.Val251=) | |
| X | g.152867589G>C | CA519157534 | NSDHL | c.705G>C (p.Val235=) c.753G>C (p.Val251=) | |
| X | g.152867589G>T | CA519157535 | NSDHL | c.705G>T (p.Val235=) c.753G>T (p.Val251=) | |
| X | g.152867590del | CA2579725524 | NSDHL | c.706del (p.Asp236ThrfsTer?) c.754del (p.Asp252ThrfsTer?) | |
| X | g.152867590G>A | CA415286839 | NSDHL | c.706G>A (p.Asp236Asn) c.754G>A (p.Asp252Asn) | |
| X | g.152867590G>C | CA415286840 | NSDHL | c.706G>C (p.Asp236His) c.754G>C (p.Asp252His) | |
| X | g.152867590G>T | CA415286841 | NSDHL | c.706G>T (p.Asp236Tyr) c.754G>T (p.Asp252Tyr) | |
| X | g.152867591A>C | CA415286842 | NSDHL | c.707A>C (p.Asp236Ala) c.755A>C (p.Asp252Ala) | |
| X | g.152867591A>G | CA415286843 | NSDHL | c.707A>G (p.Asp236Gly) c.755A>G (p.Asp252Gly) | |
| X | g.152867591A>T | CA415286844 | NSDHL | c.707A>T (p.Asp236Val) c.755A>T (p.Asp252Val) | |
| X | g.152867592C>A | CA415286845 | NSDHL | c.708C>A (p.Asp236Glu) c.756C>A (p.Asp252Glu) | gnomAD v4 |
| X | g.152867592C>G | CA415286846 | NSDHL | c.708C>G (p.Asp236Glu) c.756C>G (p.Asp252Glu) | |
| X | g.152867592C>T | CA519157536 | NSDHL | c.708C>T (p.Asp236=) c.756C>T (p.Asp252=) | |
| X | g.152867593T>A | CA415286847 | NSDHL | c.709T>A (p.Phe237Ile) c.757T>A (p.Phe253Ile) | |
| X | g.152867593T>C | CA415286849 | NSDHL | c.709T>C (p.Phe237Leu) c.757T>C (p.Phe253Leu) | gnomAD v4 |
| X | g.152867593T>G | CA415286848 | NSDHL | c.709T>G (p.Phe237Val) c.757T>G (p.Phe253Val) | |
| X | g.152867594T>A | CA415286850 | NSDHL | c.710T>A (p.Phe237Tyr) c.758T>A (p.Phe253Tyr) | |
| X | g.152867594T>C | CA415286852 | NSDHL | c.710T>C (p.Phe237Ser) c.758T>C (p.Phe253Ser) | |
| X | g.152867594T>G | CA415286851 | NSDHL | c.710T>G (p.Phe237Cys) c.758T>G (p.Phe253Cys) | |
| X | g.152867595del | CA2579725525 | NSDHL | c.711del (p.Phe237LeufsTer?) c.759del (p.Phe253LeufsTer?) | |
| X | g.152867595C>A | CA415286853 | NSDHL | c.711C>A (p.Phe237Leu) c.759C>A (p.Phe253Leu) | |
| X | g.152867595C>G | CA415286854 | NSDHL | c.711C>G (p.Phe237Leu) c.759C>G (p.Phe253Leu) |