Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.42693241_42693256del | CA2819076047 | A4GALT,CYB5R3 | c.-49+27544_-49+27559del (n.-49+27544_-49+27559del) c.699_714del (p.Cys233TrpfsTer?) | |
22 | g.42693240C>A | CA411811551 | A4GALT,CYB5R3 | c.-49+27557G>T (n.-49+27557G>T) c.712G>T (p.Val238Leu) | |
22 | g.42693240C= | CA2406870194 | A4GALT,CYB5R3 | c.-49+27557G= (n.-49+27557G=) c.712G= (p.Val238=) | |
22 | g.42693240C>G | CA411811553 | A4GALT,CYB5R3 | c.-49+27557G>C (n.-49+27557G>C) c.712G>C (p.Val238Leu) | |
22 | g.42693240C>T | CA324732230 | A4GALT,CYB5R3 | c.-49+27557G>A (n.-49+27557G>A) c.712G>A (p.Val238Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
22 | g.42693241G>A | CA10270233 | A4GALT,CYB5R3 | c.-49+27556C>T (n.-49+27556C>T) c.711C>T (p.Phe237=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
22 | g.42693241G>C | CA411811558 | A4GALT,CYB5R3 | c.-49+27556C>G (n.-49+27556C>G) c.711C>G (p.Phe237Leu) | gnomAD v4 |
22 | g.42693241G= | CA2406870195 | A4GALT,CYB5R3 | c.-49+27556C= (n.-49+27556C=) c.711C= (p.Phe237=) | |
22 | g.42693241G>T | CA411811560 | A4GALT,CYB5R3 | c.-49+27556C>A (n.-49+27556C>A) c.711C>A (p.Phe237Leu) | gnomAD v4 |
22 | g.42693242A>C | CA411811567 | A4GALT,CYB5R3 | c.-49+27555T>G (n.-49+27555T>G) c.710T>G (p.Phe237Cys) | |
22 | g.42693242A>G | CA411811563 | A4GALT,CYB5R3 | c.-49+27555T>C (n.-49+27555T>C) c.710T>C (p.Phe237Ser) | |
22 | g.42693242A>T | CA411811565 | A4GALT,CYB5R3 | c.-49+27555T>A (n.-49+27555T>A) c.710T>A (p.Phe237Tyr) | |
22 | g.42693243A= | CA2406870196 | A4GALT,CYB5R3 | c.-49+27554T= (n.-49+27554T=) c.709T= (p.Phe237=) | |
22 | g.42693243A>C | CA411811569 | A4GALT,CYB5R3 | c.-49+27554T>G (n.-49+27554T>G) c.709T>G (p.Phe237Val) | |
22 | g.42693243A>G | CA411811571 | A4GALT,CYB5R3 | c.-49+27554T>C (n.-49+27554T>C) c.709T>C (p.Phe237Leu) | |
22 | g.42693243A>T | CA324732234 | A4GALT,CYB5R3 | c.-49+27554T>A (n.-49+27554T>A) c.709T>A (p.Phe237Ile) | dbSNP |
22 | g.42693244G>A | CA515070887 | A4GALT,CYB5R3 | c.-49+27553C>T (n.-49+27553C>T) c.708C>T (p.Asp236=) | gnomAD v4 |
22 | g.42693244G>C | CA411811573 | A4GALT,CYB5R3 | c.-49+27553C>G (n.-49+27553C>G) c.708C>G (p.Asp236Glu) | gnomAD v4 |
22 | g.42693244G>T | CA411811575 | A4GALT,CYB5R3 | c.-49+27553C>A (n.-49+27553C>A) c.708C>A (p.Asp236Glu) | |
22 | g.42693245T>A | CA411811577 | A4GALT,CYB5R3 | c.-49+27552A>T (n.-49+27552A>T) c.707A>T (p.Asp236Val) | |
22 | g.42693245T>C | CA411811578 | A4GALT,CYB5R3 | c.-49+27552A>G (n.-49+27552A>G) c.707A>G (p.Asp236Gly) | gnomAD v4 |
22 | g.42693245T>G | CA411811579 | A4GALT,CYB5R3 | c.-49+27552A>C (n.-49+27552A>C) c.707A>C (p.Asp236Ala) | |
22 | g.42693246C>A | CA411811580 | A4GALT,CYB5R3 | c.-49+27551G>T (n.-49+27551G>T) c.706G>T (p.Asp236Tyr) | |
22 | g.42693246C>G | CA411811581 | A4GALT,CYB5R3 | c.-49+27551G>C (n.-49+27551G>C) c.706G>C (p.Asp236His) | |
22 | g.42693246C>T | CA411811582 | A4GALT,CYB5R3 | c.-49+27551G>A (n.-49+27551G>A) c.706G>A (p.Asp236Asn) | |
22 | g.42693247C>A | CA515070898 | A4GALT,CYB5R3 | c.-49+27550G>T (n.-49+27550G>T) c.705G>T (p.Arg235=) | |
22 | g.42693247C= | CA2406870197 | A4GALT,CYB5R3 | c.-49+27550G= (n.-49+27550G=) c.705G= (p.Arg235=) | |
22 | g.42693247C>G | CA515070899 | A4GALT,CYB5R3 | c.-49+27550G>C (n.-49+27550G>C) c.705G>C (p.Arg235=) | |
22 | g.42693247C>T | CA515070901 | A4GALT,CYB5R3 | c.-49+27550G>A (n.-49+27550G>A) c.705G>A (p.Arg235=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.42693248C>A | CA411811587 | A4GALT,CYB5R3 | c.-49+27549G>T (n.-49+27549G>T) c.704G>T (p.Arg235Leu) | dbSNP |
22 | g.42693248C= | CA2406870198 | A4GALT,CYB5R3 | c.-49+27549G= (n.-49+27549G=) c.704G= (p.Arg235=) | |
22 | g.42693248C>G | CA411811585 | A4GALT,CYB5R3 | c.-49+27549G>C (n.-49+27549G>C) c.704G>C (p.Arg235Pro) | |
22 | g.42693248C>T | CA10270234 | A4GALT,CYB5R3 | c.-49+27549G>A (n.-49+27549G>A) c.704G>A (p.Arg235Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42693249G>A | CA10270235 | A4GALT,CYB5R3 | c.-49+27548C>T (n.-49+27548C>T) c.703C>T (p.Arg235Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.42693249G>C | CA411811593 | A4GALT,CYB5R3 | c.-49+27548C>G (n.-49+27548C>G) c.703C>G (p.Arg235Gly) | |
22 | g.42693249G= | CA2406870199 | A4GALT,CYB5R3 | c.-49+27548C= (n.-49+27548C=) c.703C= (p.Arg235=) | |
22 | g.42693249G>T | CA10270236 | A4GALT,CYB5R3 | c.-49+27548C>A (n.-49+27548C>A) c.703C>A (p.Arg235=) | dbSNP ExAC gnomAD v2 |
22 | g.42693250C>A | CA411811595 | A4GALT,CYB5R3 | c.-49+27547G>T (n.-49+27547G>T) c.702G>T (p.Met234Ile) | |
22 | g.42693250C= | CA2406870200 | A4GALT,CYB5R3 | c.-49+27547G= (n.-49+27547G=) c.702G= (p.Met234=) | |
22 | g.42693250C>G | CA411811599 | A4GALT,CYB5R3 | c.-49+27547G>C (n.-49+27547G>C) c.702G>C (p.Met234Ile) | |
22 | g.42693250C>T | CA411811597 | A4GALT,CYB5R3 | c.-49+27547G>A (n.-49+27547G>A) c.702G>A (p.Met234Ile) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.42693251A>C | CA411811602 | A4GALT,CYB5R3 | c.-49+27546T>G (n.-49+27546T>G) c.701T>G (p.Met234Arg) | |
22 | g.42693251A>G | CA411811603 | A4GALT,CYB5R3 | c.-49+27546T>C (n.-49+27546T>C) c.701T>C (p.Met234Thr) | |
22 | g.42693251A>T | CA411811606 | A4GALT,CYB5R3 | c.-49+27546T>A (n.-49+27546T>A) c.701T>A (p.Met234Lys) | |
22 | g.42693252T>A | CA411811608 | A4GALT,CYB5R3 | c.-49+27545A>T (n.-49+27545A>T) c.700A>T (p.Met234Leu) | |
22 | g.42693252T>C | CA10270237 | A4GALT,CYB5R3 | c.-49+27545A>G (n.-49+27545A>G) c.700A>G (p.Met234Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42693252T>G | CA411811611 | A4GALT,CYB5R3 | c.-49+27545A>C (n.-49+27545A>C) c.700A>C (p.Met234Leu) | dbSNP |
22 | g.42693252T= | CA2406870201 | A4GALT,CYB5R3 | c.-49+27545A= (n.-49+27545A=) c.700A= (p.Met234=) | |
22 | g.42693253G>A | CA515070916 | A4GALT,CYB5R3 | c.-49+27544C>T (n.-49+27544C>T) c.699C>T (p.Cys233=) | |
22 | g.42693253G>C | CA411811613 | A4GALT,CYB5R3 | c.-49+27544C>G (n.-49+27544C>G) c.699C>G (p.Cys233Trp) |