| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.42693166_42693169delinsACAC | CA2406870155 | A4GALT,CYB5R3 | c.-49+27628_-49+27631delinsGTGT (n.-49+27628_-49+27631delinsGTGT) c.783_786delinsGTGT (p.Trp261=) | |
| 22 | g.42693170_42693172del | CA10270215 | A4GALT,CYB5R3 | c.-49+27628_-49+27630del (n.-49+27628_-49+27630del) c.783_785del (p.Trp261del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693169C>A | CA411810830 | A4GALT,CYB5R3 | c.-49+27628G>T (n.-49+27628G>T) c.783G>T (p.Trp261Cys) | |
| 22 | g.42693169C= | CA2406870158 | A4GALT,CYB5R3 | c.-49+27628G= (n.-49+27628G=) c.783G= (p.Trp261=) | |
| 22 | g.42693169C>G | CA10270217 | A4GALT,CYB5R3 | c.-49+27628G>C (n.-49+27628G>C) c.783G>C (p.Trp261Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693169C>T | CA115687 | A4GALT,CYB5R3 | c.-49+27628G>A (n.-49+27628G>A) c.783G>A (p.Trp261Ter) | ClinVar dbSNP |
| 22 | g.42693170C>A | CA411810834 | A4GALT,CYB5R3 | c.-49+27627G>T (n.-49+27627G>T) c.782G>T (p.Trp261Leu) | |
| 22 | g.42693170C>G | CA411810835 | A4GALT,CYB5R3 | c.-49+27627G>C (n.-49+27627G>C) c.782G>C (p.Trp261Ser) | |
| 22 | g.42693170C>T | CA411810837 | A4GALT,CYB5R3 | c.-49+27627G>A (n.-49+27627G>A) c.782G>A (p.Trp261Ter) | gnomAD v4 |
| 22 | g.42693171A>C | CA411810839 | A4GALT,CYB5R3 | c.-49+27626T>G (n.-49+27626T>G) c.781T>G (p.Trp261Gly) | |
| 22 | g.42693171A>G | CA411810841 | A4GALT,CYB5R3 | c.-49+27626T>C (n.-49+27626T>C) c.781T>C (p.Trp261Arg) | |
| 22 | g.42693171A>T | CA411810843 | A4GALT,CYB5R3 | c.-49+27626T>A (n.-49+27626T>A) c.781T>A (p.Trp261Arg) | |
| 22 | g.42693172C>A | CA411810846 | A4GALT,CYB5R3 | c.-49+27625G>T (n.-49+27625G>T) c.780G>T (p.Lys260Asn) | |
| 22 | g.42693172C= | CA2406870159 | A4GALT,CYB5R3 | c.-49+27625G= (n.-49+27625G=) c.780G= (p.Lys260=) | |
| 22 | g.42693172C>G | CA411810850 | A4GALT,CYB5R3 | c.-49+27625G>C (n.-49+27625G>C) c.780G>C (p.Lys260Asn) | |
| 22 | g.42693172C>T | CA10270218 | A4GALT,CYB5R3 | c.-49+27625G>A (n.-49+27625G>A) c.780G>A (p.Lys260=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693175_42693177del | CA2657079410 | A4GALT,CYB5R3 | c.-49+27623_-49+27625del (n.-49+27623_-49+27625del) c.778_780del (p.Lys260del) | gnomAD v4 |
| 22 | g.42693173T>A | CA411810852 | A4GALT,CYB5R3 | c.-49+27624A>T (n.-49+27624A>T) c.779A>T (p.Lys260Met) | |
| 22 | g.42693173T>C | CA411810854 | A4GALT,CYB5R3 | c.-49+27624A>G (n.-49+27624A>G) c.779A>G (p.Lys260Arg) | |
| 22 | g.42693173T>G | CA411810856 | A4GALT,CYB5R3 | c.-49+27624A>C (n.-49+27624A>C) c.779A>C (p.Lys260Thr) | |
| 22 | g.42693174T>A | CA411810859 | A4GALT,CYB5R3 | c.-49+27623A>T (n.-49+27623A>T) c.778A>T (p.Lys260Ter) | |
| 22 | g.42693174T>C | CA411810860 | A4GALT,CYB5R3 | c.-49+27623A>G (n.-49+27623A>G) c.778A>G (p.Lys260Glu) | |
| 22 | g.42693174T>G | CA411810862 | A4GALT,CYB5R3 | c.-49+27623A>C (n.-49+27623A>C) c.778A>C (p.Lys260Gln) | |
| 22 | g.42693175C>A | CA411810867 | A4GALT,CYB5R3 | c.-49+27622G>T (n.-49+27622G>T) c.777G>T (p.Lys259Asn) | gnomAD v4 COSMIC |
| 22 | g.42693175C= | CA2406870160 | A4GALT,CYB5R3 | c.-49+27622G= (n.-49+27622G=) c.777G= (p.Lys259=) | |
| 22 | g.42693175C>G | CA411810865 | A4GALT,CYB5R3 | c.-49+27622G>C (n.-49+27622G>C) c.777G>C (p.Lys259Asn) | |
| 22 | g.42693175C>T | CA515072337 | A4GALT,CYB5R3 | c.-49+27622G>A (n.-49+27622G>A) c.777G>A (p.Lys259=) | dbSNP gnomAD v2 |
| 22 | g.42693176T>A | CA411810869 | A4GALT,CYB5R3 | c.-49+27621A>T (n.-49+27621A>T) c.776A>T (p.Lys259Met) | |
| 22 | g.42693176T>C | CA411810871 | A4GALT,CYB5R3 | c.-49+27621A>G (n.-49+27621A>G) c.776A>G (p.Lys259Arg) | ClinVar dbSNP gnomAD v4 |
| 22 | g.42693176T>G | CA411810873 | A4GALT,CYB5R3 | c.-49+27621A>C (n.-49+27621A>C) c.776A>C (p.Lys259Thr) | |
| 22 | g.42693177T>A | CA411810875 | A4GALT,CYB5R3 | c.-49+27620A>T (n.-49+27620A>T) c.775A>T (p.Lys259Ter) | |
| 22 | g.42693177T>C | CA411810876 | A4GALT,CYB5R3 | c.-49+27620A>G (n.-49+27620A>G) c.775A>G (p.Lys259Glu) | gnomAD v4 |
| 22 | g.42693177T>G | CA411810877 | A4GALT,CYB5R3 | c.-49+27620A>C (n.-49+27620A>C) c.775A>C (p.Lys259Gln) | |
| 22 | g.42693178G>A | CA10270219 | A4GALT,CYB5R3 | c.-49+27619C>T (n.-49+27619C>T) c.774C>T (p.Phe258=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693178G>C | CA411810878 | A4GALT,CYB5R3 | c.-49+27619C>G (n.-49+27619C>G) c.774C>G (p.Phe258Leu) | |
| 22 | g.42693178G= | CA2406870161 | A4GALT,CYB5R3 | c.-49+27619C= (n.-49+27619C=) c.774C= (p.Phe258=) | |
| 22 | g.42693178G>T | CA411810879 | A4GALT,CYB5R3 | c.-49+27619C>A (n.-49+27619C>A) c.774C>A (p.Phe258Leu) | |
| 22 | g.42693179A>C | CA411811392 | A4GALT,CYB5R3 | c.-49+27618T>G (n.-49+27618T>G) c.773T>G (p.Phe258Cys) | |
| 22 | g.42693179A>G | CA411811393 | A4GALT,CYB5R3 | c.-49+27618T>C (n.-49+27618T>C) c.773T>C (p.Phe258Ser) | |
| 22 | g.42693179A>T | CA411811394 | A4GALT,CYB5R3 | c.-49+27618T>A (n.-49+27618T>A) c.773T>A (p.Phe258Tyr) | |
| 22 | g.42693180A>C | CA411811395 | A4GALT,CYB5R3 | c.-49+27617T>G (n.-49+27617T>G) c.772T>G (p.Phe258Val) | |
| 22 | g.42693180A>G | CA411811396 | A4GALT,CYB5R3 | c.-49+27617T>C (n.-49+27617T>C) c.772T>C (p.Phe258Leu) | gnomAD v4 |
| 22 | g.42693180A>T | CA411811397 | A4GALT,CYB5R3 | c.-49+27617T>A (n.-49+27617T>A) c.772T>A (p.Phe258Ile) | |
| 22 | g.42693181G>A | CA515070707 | A4GALT,CYB5R3 | c.-49+27616C>T (n.-49+27616C>T) c.771C>T (p.Val257=) | |
| 22 | g.42693181G>C | CA515070709 | A4GALT,CYB5R3 | c.-49+27616C>G (n.-49+27616C>G) c.771C>G (p.Val257=) | |
| 22 | g.42693181G>T | CA515070711 | A4GALT,CYB5R3 | c.-49+27616C>A (n.-49+27616C>A) c.771C>A (p.Val257=) | gnomAD v4 |
| 22 | g.42693182A>C | CA411811398 | A4GALT,CYB5R3 | c.-49+27615T>G (n.-49+27615T>G) c.770T>G (p.Val257Gly) | |
| 22 | g.42693182A>G | CA411811399 | A4GALT,CYB5R3 | c.-49+27615T>C (n.-49+27615T>C) c.770T>C (p.Val257Ala) | |
| 22 | g.42693182A>T | CA411811400 | A4GALT,CYB5R3 | c.-49+27615T>A (n.-49+27615T>A) c.770T>A (p.Val257Asp) | gnomAD v4 |
| 22 | g.42693182_42693183delinsAC | CA2406870162 | A4GALT,CYB5R3 | c.-49+27614_-49+27615delinsGT (n.-49+27614_-49+27615delinsGT) c.769_770delinsGT (p.Val257=) |