| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.42693326C>A | CA10270254 | A4GALT,CYB5R3 | c.-49+27471G>T (n.-49+27471G>T) c.626G>T (p.Gly209Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693326C= | CA2406870242 | A4GALT,CYB5R3 | c.-49+27471G= (n.-49+27471G=) c.626G= (p.Gly209=) | |
| 22 | g.42693326C>G | CA411811926 | A4GALT,CYB5R3 | c.-49+27471G>C (n.-49+27471G>C) c.626G>C (p.Gly209Ala) | |
| 22 | g.42693326C>T | CA411811928 | A4GALT,CYB5R3 | c.-49+27471G>A (n.-49+27471G>A) c.626G>A (p.Gly209Asp) | dbSNP |
| 22 | g.42693327C>A | CA411811930 | A4GALT,CYB5R3 | c.-49+27470G>T (n.-49+27470G>T) c.625G>T (p.Gly209Cys) | |
| 22 | g.42693327C>G | CA411811932 | A4GALT,CYB5R3 | c.-49+27470G>C (n.-49+27470G>C) c.625G>C (p.Gly209Arg) | |
| 22 | g.42693327C>T | CA411811934 | A4GALT,CYB5R3 | c.-49+27470G>A (n.-49+27470G>A) c.625G>A (p.Gly209Ser) | |
| 22 | g.42693328C>A | CA515072361 | A4GALT,CYB5R3 | c.-49+27469G>T (n.-49+27469G>T) c.624G>T (p.Leu208=) | |
| 22 | g.42693328C>G | CA515072362 | A4GALT,CYB5R3 | c.-49+27469G>C (n.-49+27469G>C) c.624G>C (p.Leu208=) | |
| 22 | g.42693328C>T | CA515072363 | A4GALT,CYB5R3 | c.-49+27469G>A (n.-49+27469G>A) c.624G>A (p.Leu208=) | gnomAD v4 |
| 22 | g.42693329A>C | CA411811936 | A4GALT,CYB5R3 | c.-49+27468T>G (n.-49+27468T>G) c.623T>G (p.Leu208Arg) | |
| 22 | g.42693329A>G | CA411811939 | A4GALT,CYB5R3 | c.-49+27468T>C (n.-49+27468T>C) c.623T>C (p.Leu208Pro) | |
| 22 | g.42693329A>T | CA411811940 | A4GALT,CYB5R3 | c.-49+27468T>A (n.-49+27468T>A) c.623T>A (p.Leu208Gln) | |
| 22 | g.42693330G>A | CA515072369 | A4GALT,CYB5R3 | c.-49+27467C>T (n.-49+27467C>T) c.622C>T (p.Leu208=) | |
| 22 | g.42693330G>C | CA411811944 | A4GALT,CYB5R3 | c.-49+27467C>G (n.-49+27467C>G) c.622C>G (p.Leu208Val) | |
| 22 | g.42693330G>T | CA411811942 | A4GALT,CYB5R3 | c.-49+27467C>A (n.-49+27467C>A) c.622C>A (p.Leu208Met) | |
| 22 | g.42693331C>A | CA515072374 | A4GALT,CYB5R3 | c.-49+27466G>T (n.-49+27466G>T) c.621G>T (p.Val207=) | |
| 22 | g.42693331C>G | CA515072376 | A4GALT,CYB5R3 | c.-49+27466G>C (n.-49+27466G>C) c.621G>C (p.Val207=) | |
| 22 | g.42693331C>T | CA515072378 | A4GALT,CYB5R3 | c.-49+27466G>A (n.-49+27466G>A) c.621G>A (p.Val207=) | |
| 22 | g.42693332A= | CA2406870243 | A4GALT,CYB5R3 | c.-49+27465T= (n.-49+27465T=) c.620T= (p.Val207=) | |
| 22 | g.42693332A>C | CA10270255 | A4GALT,CYB5R3 | c.-49+27465T>G (n.-49+27465T>G) c.620T>G (p.Val207Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693332A>G | CA411811947 | A4GALT,CYB5R3 | c.-49+27465T>C (n.-49+27465T>C) c.620T>C (p.Val207Ala) | |
| 22 | g.42693332A>T | CA411811945 | A4GALT,CYB5R3 | c.-49+27465T>A (n.-49+27465T>A) c.620T>A (p.Val207Glu) | |
| 22 | g.42693333C>A | CA411811949 | A4GALT,CYB5R3 | c.-49+27464G>T (n.-49+27464G>T) c.619G>T (p.Val207Leu) | |
| 22 | g.42693333C= | CA2406870244 | A4GALT,CYB5R3 | c.-49+27464G= (n.-49+27464G=) c.619G= (p.Val207=) | |
| 22 | g.42693333C>G | CA411811951 | A4GALT,CYB5R3 | c.-49+27464G>C (n.-49+27464G>C) c.619G>C (p.Val207Leu) | |
| 22 | g.42693333C>T | CA10270256 | A4GALT,CYB5R3 | c.-49+27464G>A (n.-49+27464G>A) c.619G>A (p.Val207Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693334G>A | CA10270257 | A4GALT,CYB5R3 | c.-49+27463C>T (n.-49+27463C>T) c.618C>T (p.Asn206=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 22 | g.42693334G>C | CA411811956 | A4GALT,CYB5R3 | c.-49+27463C>G (n.-49+27463C>G) c.618C>G (p.Asn206Lys) | |
| 22 | g.42693334G= | CA2406870245 | A4GALT,CYB5R3 | c.-49+27463C= (n.-49+27463C=) c.618C= (p.Asn206=) | |
| 22 | g.42693334G>T | CA411811958 | A4GALT,CYB5R3 | c.-49+27463C>A (n.-49+27463C>A) c.618C>A (p.Asn206Lys) | |
| 22 | g.42693335T>A | CA411811960 | A4GALT,CYB5R3 | c.-49+27462A>T (n.-49+27462A>T) c.617A>T (p.Asn206Ile) | |
| 22 | g.42693335T>C | CA411811962 | A4GALT,CYB5R3 | c.-49+27462A>G (n.-49+27462A>G) c.617A>G (p.Asn206Ser) | gnomAD v4 |
| 22 | g.42693335T>G | CA411811964 | A4GALT,CYB5R3 | c.-49+27462A>C (n.-49+27462A>C) c.617A>C (p.Asn206Thr) | |
| 22 | g.42693336T>A | CA411811966 | A4GALT,CYB5R3 | c.-49+27461A>T (n.-49+27461A>T) c.616A>T (p.Asn206Tyr) | |
| 22 | g.42693336T>C | CA411811968 | A4GALT,CYB5R3 | c.-49+27461A>G (n.-49+27461A>G) c.616A>G (p.Asn206Asp) | |
| 22 | g.42693336T>G | CA411811970 | A4GALT,CYB5R3 | c.-49+27461A>C (n.-49+27461A>C) c.616A>C (p.Asn206His) | |
| 22 | g.42693337G>A | CA515072395 | A4GALT,CYB5R3 | c.-49+27460C>T (n.-49+27460C>T) c.615C>T (p.Thr205=) | |
| 22 | g.42693337G>C | CA515072397 | A4GALT,CYB5R3 | c.-49+27460C>G (n.-49+27460C>G) c.615C>G (p.Thr205=) | dbSNP |
| 22 | g.42693337G= | CA2406870246 | A4GALT,CYB5R3 | c.-49+27460C= (n.-49+27460C=) c.615C= (p.Thr205=) | |
| 22 | g.42693337G>T | CA515072394 | A4GALT,CYB5R3 | c.-49+27460C>A (n.-49+27460C>A) c.615C>A (p.Thr205=) | |
| 22 | g.42693338G>A | CA411811972 | A4GALT,CYB5R3 | c.-49+27459C>T (n.-49+27459C>T) c.614C>T (p.Thr205Ile) | dbSNP |
| 22 | g.42693338G>C | CA411811975 | A4GALT,CYB5R3 | c.-49+27459C>G (n.-49+27459C>G) c.614C>G (p.Thr205Ser) | |
| 22 | g.42693338G>T | CA411811974 | A4GALT,CYB5R3 | c.-49+27459C>A (n.-49+27459C>A) c.614C>A (p.Thr205Asn) | |
| 22 | g.42693339T>A | CA411811981 | A4GALT,CYB5R3 | c.-49+27458A>T (n.-49+27458A>T) c.613A>T (p.Thr205Ser) | |
| 22 | g.42693339T>C | CA411811983 | A4GALT,CYB5R3 | c.-49+27458A>G (n.-49+27458A>G) c.613A>G (p.Thr205Ala) | |
| 22 | g.42693339T>G | CA411811985 | A4GALT,CYB5R3 | c.-49+27458A>C (n.-49+27458A>C) c.613A>C (p.Thr205Pro) | |
| 22 | g.42693340C>A | CA515072414 | A4GALT,CYB5R3 | c.-49+27457G>T (n.-49+27457G>T) c.612G>T (p.Leu204=) | |
| 22 | g.42693340C>G | CA515072408 | A4GALT,CYB5R3 | c.-49+27457G>C (n.-49+27457G>C) c.612G>C (p.Leu204=) | gnomAD v4 |
| 22 | g.42693340C>T | CA515072406 | A4GALT,CYB5R3 | c.-49+27457G>A (n.-49+27457G>A) c.612G>A (p.Leu204=) |