| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.152862631_152862632del | CA2579725464 | NSDHL | c.450_451del (p.Phe150LeufsTer10) c.498_499del (p.Phe166LeufsTer10) | |
| X | g.152862632G>A | CA415285189 | NSDHL | c.451G>A (p.Glu151Lys) c.499G>A (p.Glu167Lys) | |
| X | g.152862632G>C | CA415285190 | NSDHL | c.451G>C (p.Glu151Gln) c.499G>C (p.Glu167Gln) | |
| X | g.152862632G= | CA2466152379 | NSDHL | c.451G= (p.Glu151=) c.499G= (p.Glu167=) | |
| X | g.152862632G>T | CA255885 | NSDHL | c.451G>T (p.Glu151Ter) c.499G>T (p.Glu167Ter) | ClinVar dbSNP |
| X | g.152862633A>C | CA415285191 | NSDHL | c.452A>C (p.Glu151Ala) c.500A>C (p.Glu167Ala) | |
| X | g.152862633A>G | CA415285192 | NSDHL | c.452A>G (p.Glu151Gly) c.500A>G (p.Glu167Gly) | |
| X | g.152862633A>T | CA415285193 | NSDHL | c.452A>T (p.Glu151Val) c.500A>T (p.Glu167Val) | |
| X | g.152862634G>A | CA519157353 | NSDHL | c.453G>A (p.Glu151=) c.501G>A (p.Glu167=) | |
| X | g.152862634G>C | CA415285194 | NSDHL | c.453G>C (p.Glu151Asp) c.501G>C (p.Glu167Asp) | |
| X | g.152862634G>T | CA415285195 | NSDHL | c.453G>T (p.Glu151Asp) c.501G>T (p.Glu167Asp) | |
| X | g.152862635G>A | CA415285198 | NSDHL | c.454G>A (p.Gly152Ser) c.502G>A (p.Gly168Ser) | |
| X | g.152862635G>C | CA415285197 | NSDHL | c.454G>C (p.Gly152Arg) c.502G>C (p.Gly168Arg) | |
| X | g.152862635G>T | CA415285196 | NSDHL | c.454G>T (p.Gly152Cys) c.502G>T (p.Gly168Cys) | |
| X | g.152862636G>A | CA415285199 | NSDHL | c.455G>A (p.Gly152Asp) c.503G>A (p.Gly168Asp) | ClinVar |
| X | g.152862636G>C | CA415285200 | NSDHL | c.455G>C (p.Gly152Ala) c.503G>C (p.Gly168Ala) | |
| X | g.152862636G>T | CA415285201 | NSDHL | c.455G>T (p.Gly152Val) c.503G>T (p.Gly168Val) | |
| X | g.152862637C>A | CA519157354 | NSDHL | c.456C>A (p.Gly152=) c.504C>A (p.Gly168=) | gnomAD v4 |
| X | g.152862637C= | CA2466152380 | NSDHL | c.456C= (p.Gly152=) c.504C= (p.Gly168=) | |
| X | g.152862637C>G | CA519157355 | NSDHL | c.456C>G (p.Gly152=) c.504C>G (p.Gly168=) | |
| X | g.152862637C>T | CA337612331 | NSDHL | c.456C>T (p.Gly152=) c.504C>T (p.Gly168=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.152862638G>A | CA415285202 | NSDHL | c.457G>A (p.Val153Ile) c.505G>A (p.Val169Ile) | dbSNP COSMIC |
| X | g.152862638G>C | CA415285203 | NSDHL | c.457G>C (p.Val153Leu) c.505G>C (p.Val169Leu) | |
| X | g.152862638G= | CA2466152381 | NSDHL | c.457G= (p.Val153=) c.505G= (p.Val169=) | |
| X | g.152862638G>T | CA415285204 | NSDHL | c.457G>T (p.Val153Phe) c.505G>T (p.Val169Phe) | |
| X | g.152862639T>A | CA415285205 | NSDHL | c.458T>A (p.Val153Asp) c.506T>A (p.Val169Asp) | |
| X | g.152862639T>C | CA415285206 | NSDHL | c.458T>C (p.Val153Ala) c.506T>C (p.Val169Ala) | |
| X | g.152862639T>G | CA415285207 | NSDHL | c.458T>G (p.Val153Gly) c.506T>G (p.Val169Gly) | |
| X | g.152862640C>A | CA519157356 | NSDHL | c.459C>A (p.Val153=) c.507C>A (p.Val169=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.152862640C= | CA2466152382 | NSDHL | c.459C= (p.Val153=) c.507C= (p.Val169=) | |
| X | g.152862640C>G | CA519157357 | NSDHL | c.459C>G (p.Val153=) c.507C>G (p.Val169=) | |
| X | g.152862640C>T | CA10544773 | NSDHL | c.459C>T (p.Val153=) c.507C>T (p.Val169=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.152862641G>A | CA415285210 | NSDHL | c.460G>A (p.Asp154Asn) c.508G>A (p.Asp170Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.152862641G>C | CA415285209 | NSDHL | c.460G>C (p.Asp154His) c.508G>C (p.Asp170His) | |
| X | g.152862641G= | CA2466152383 | NSDHL | c.460G= (p.Asp154=) c.508G= (p.Asp170=) | |
| X | g.152862641G>T | CA415285208 | NSDHL | c.460G>T (p.Asp154Tyr) c.508G>T (p.Asp170Tyr) | |
| X | g.152862642A>C | CA415285211 | NSDHL | c.461A>C (p.Asp154Ala) c.509A>C (p.Asp170Ala) | |
| X | g.152862642A>G | CA415285212 | NSDHL | c.461A>G (p.Asp154Gly) c.509A>G (p.Asp170Gly) | gnomAD v4 |
| X | g.152862642A>T | CA415285213 | NSDHL | c.461A>T (p.Asp154Val) c.509A>T (p.Asp170Val) | |
| X | g.152862643T>A | CA415285214 | NSDHL | c.462T>A (p.Asp154Glu) c.510T>A (p.Asp170Glu) | |
| X | g.152862643T>C | CA519157358 | NSDHL | c.462T>C (p.Asp154=) c.510T>C (p.Asp170=) | |
| X | g.152862643T>G | CA415285215 | NSDHL | c.462T>G (p.Asp154Glu) c.510T>G (p.Asp170Glu) | |
| X | g.152862644A= | CA2466152384 | NSDHL | c.463A= (p.Ile155=) c.511A= (p.Ile171=) | |
| X | g.152862644A>C | CA415285216 | NSDHL | c.463A>C (p.Ile155Leu) c.511A>C (p.Ile171Leu) | |
| X | g.152862644A>G | CA415285217 | NSDHL | c.463A>G (p.Ile155Val) c.511A>G (p.Ile171Val) | dbSNP |
| X | g.152862644A>T | CA415285218 | NSDHL | c.463A>T (p.Ile155Phe) c.511A>T (p.Ile171Phe) | |
| X | g.152862645T>A | CA415285219 | NSDHL | c.464T>A (p.Ile155Asn) c.512T>A (p.Ile171Asn) | |
| X | g.152862645T>C | CA415285220 | NSDHL | c.464T>C (p.Ile155Thr) c.512T>C (p.Ile171Thr) | |
| X | g.152862645T>G | CA415285221 | NSDHL | c.464T>G (p.Ile155Ser) c.512T>G (p.Ile171Ser) | |
| X | g.152862646C>A | CA519157361 | NSDHL | c.465C>A (p.Ile155=) c.513C>A (p.Ile171=) |