| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.44934496C>A | CA7166659 | KLHL28 | c.962G>T (p.Arg321Leu) c.1004G>T (p.Arg335Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.44934496C= | CA2133508304 | KLHL28 | c.962G= (p.Arg321=) c.1004G= (p.Arg335=) | |
| 14 | g.44934496C>G | CA389558014 | KLHL28 | c.962G>C (p.Arg321Pro) c.1004G>C (p.Arg335Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.44934496C>T | CA389558016 | KLHL28 | c.962G>A (p.Arg321His) c.1004G>A (p.Arg335His) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.44934497G>A | CA389558020 | KLHL28 | c.961C>T (p.Arg321Cys) c.1003C>T (p.Arg335Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.44934497G>C | CA389558023 | KLHL28 | c.961C>G (p.Arg321Gly) c.1003C>G (p.Arg335Gly) | |
| 14 | g.44934497G= | CA2133508305 | KLHL28 | c.961C= (p.Arg321=) c.1003C= (p.Arg335=) | |
| 14 | g.44934497G>T | CA389558019 | KLHL28 | c.961C>A (p.Arg321Ser) c.1003C>A (p.Arg335Ser) | |
| 14 | g.44934498A>C | CA486343259 | KLHL28 | c.960T>G (p.Pro320=) c.1002T>G (p.Pro334=) | |
| 14 | g.44934498A>G | CA486343260 | KLHL28 | c.960T>C (p.Pro320=) c.1002T>C (p.Pro334=) | |
| 14 | g.44934498A>T | CA486343262 | KLHL28 | c.960T>A (p.Pro320=) c.1002T>A (p.Pro334=) | |
| 14 | g.44934499G>A | CA389558026 | KLHL28 | c.959C>T (p.Pro320Leu) c.1001C>T (p.Pro334Leu) | |
| 14 | g.44934499G>C | CA389558028 | KLHL28 | c.959C>G (p.Pro320Arg) c.1001C>G (p.Pro334Arg) | gnomAD v4 |
| 14 | g.44934499G>T | CA389558029 | KLHL28 | c.959C>A (p.Pro320His) c.1001C>A (p.Pro334His) | |
| 14 | g.44934500G>A | CA389558031 | KLHL28 | c.958C>T (p.Pro320Ser) c.1000C>T (p.Pro334Ser) | |
| 14 | g.44934500G>C | CA389558033 | KLHL28 | c.958C>G (p.Pro320Ala) c.1000C>G (p.Pro334Ala) | |
| 14 | g.44934500G>T | CA389558034 | KLHL28 | c.958C>A (p.Pro320Thr) c.1000C>A (p.Pro334Thr) | |
| 14 | g.44934501A>C | CA389558037 | KLHL28 | c.957T>G (p.Ile319Met) c.999T>G (p.Ile333Met) | |
| 14 | g.44934501A>G | CA486343265 | KLHL28 | c.957T>C (p.Ile319=) c.999T>C (p.Ile333=) | |
| 14 | g.44934501A>T | CA486343266 | KLHL28 | c.957T>A (p.Ile319=) c.999T>A (p.Ile333=) | |
| 14 | g.44934502A>C | CA389558039 | KLHL28 | c.956T>G (p.Ile319Ser) c.998T>G (p.Ile333Ser) | |
| 14 | g.44934502A>G | CA389558042 | KLHL28 | c.956T>C (p.Ile319Thr) c.998T>C (p.Ile333Thr) | |
| 14 | g.44934502A>T | CA389558041 | KLHL28 | c.956T>A (p.Ile319Asn) c.998T>A (p.Ile333Asn) | COSMIC |
| 14 | g.44934503T>A | CA389558044 | KLHL28 | c.955A>T (p.Ile319Phe) c.997A>T (p.Ile333Phe) | |
| 14 | g.44934503T>C | CA389558046 | KLHL28 | c.955A>G (p.Ile319Val) c.997A>G (p.Ile333Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.44934503T>G | CA389558048 | KLHL28 | c.955A>C (p.Ile319Leu) c.997A>C (p.Ile333Leu) | |
| 14 | g.44934503T= | CA2133508306 | KLHL28 | c.955A= (p.Ile319=) c.997A= (p.Ile333=) | |
| 14 | g.44934504G>A | CA486343269 | KLHL28 | c.954C>T (p.Asn318=) c.996C>T (p.Asn332=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.44934504G>C | CA389558050 | KLHL28 | c.954C>G (p.Asn318Lys) c.996C>G (p.Asn332Lys) | |
| 14 | g.44934504G= | CA2133508307 | KLHL28 | c.954C= (p.Asn318=) c.996C= (p.Asn332=) | |
| 14 | g.44934504G>T | CA389558051 | KLHL28 | c.954C>A (p.Asn318Lys) c.996C>A (p.Asn332Lys) | |
| 14 | g.44934505T>A | CA389558053 | KLHL28 | c.953A>T (p.Asn318Ile) c.995A>T (p.Asn332Ile) | |
| 14 | g.44934505T>C | CA389558057 | KLHL28 | c.953A>G (p.Asn318Ser) c.995A>G (p.Asn332Ser) | |
| 14 | g.44934505T>G | CA389558055 | KLHL28 | c.953A>C (p.Asn318Thr) c.995A>C (p.Asn332Thr) | |
| 14 | g.44934506T>A | CA389558058 | KLHL28 | c.952A>T (p.Asn318Tyr) c.994A>T (p.Asn332Tyr) | |
| 14 | g.44934506T>C | CA389558060 | KLHL28 | c.952A>G (p.Asn318Asp) c.994A>G (p.Asn332Asp) | |
| 14 | g.44934506T>G | CA389558062 | KLHL28 | c.952A>C (p.Asn318His) c.994A>C (p.Asn332His) | |
| 14 | g.44934507T>A | CA486343275 | KLHL28 | c.951A>T (p.Leu317=) c.993A>T (p.Leu331=) | |
| 14 | g.44934507T>C | CA486343279 | KLHL28 | c.951A>G (p.Leu317=) c.993A>G (p.Leu331=) | gnomAD v4 |
| 14 | g.44934507T>G | CA7166660 | KLHL28 | c.951A>C (p.Leu317=) c.993A>C (p.Leu331=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.44934507T= | CA2133508308 | KLHL28 | c.951A= (p.Leu317=) c.993A= (p.Leu331=) | |
| 14 | g.44934508A>C | CA389558065 | KLHL28 | c.950T>G (p.Leu317Arg) c.992T>G (p.Leu331Arg) | |
| 14 | g.44934508A>G | CA389558067 | KLHL28 | c.950T>C (p.Leu317Pro) c.992T>C (p.Leu331Pro) | |
| 14 | g.44934508A>T | CA389558069 | KLHL28 | c.950T>A (p.Leu317Gln) c.992T>A (p.Leu331Gln) | |
| 14 | g.44934509G>A | CA486343284 | KLHL28 | c.949C>T (p.Leu317=) c.991C>T (p.Leu331=) | dbSNP gnomAD v4 |
| 14 | g.44934509G>C | CA389558071 | KLHL28 | c.949C>G (p.Leu317Val) c.991C>G (p.Leu331Val) | |
| 14 | g.44934509G= | CA2133508309 | KLHL28 | c.949C= (p.Leu317=) c.991C= (p.Leu331=) | |
| 14 | g.44934509G>T | CA389558072 | KLHL28 | c.949C>A (p.Leu317Ile) c.991C>A (p.Leu331Ile) | |
| 14 | g.44934510G>A | CA486343289 | KLHL28 | c.948C>T (p.Pro316=) c.990C>T (p.Pro330=) | |
| 14 | g.44934510G>C | CA486343291 | KLHL28 | c.948C>G (p.Pro316=) c.990C>G (p.Pro330=) | dbSNP |