Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.42693312_42693322delinsAGCGGGACTGG | CA2406870236 | A4GALT,CYB5R3 | c.-49+27475_-49+27485delinsCCAGTCCCGCT (n.-49+27475_-49+27485delinsCCAGTCCCGCT) c.630_640delinsCCAGTCCCGCT (p.Thr210=) | |
22 | g.42693314_42693321del | CA2657079474 | A4GALT,CYB5R3 | c.-49+27477_-49+27484del (n.-49+27477_-49+27484del) c.632_639del (p.Gln211LeufsTer?) | gnomAD v4 |
22 | g.42693314_42693323del | CA639829272 | A4GALT,CYB5R3 | c.-49+27475_-49+27484del (n.-49+27475_-49+27484del) c.630_639del (p.Gln211ThrfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42693321G>A | CA411811908 | A4GALT,CYB5R3 | c.-49+27476C>T (n.-49+27476C>T) c.631C>T (p.Gln211Ter) | gnomAD v4 |
22 | g.42693321G>C | CA130289 | A4GALT,CYB5R3 | c.-49+27476C>G (n.-49+27476C>G) c.631C>G (p.Gln211Glu) | ClinVar dbSNP |
22 | g.42693321G= | CA2406870239 | A4GALT,CYB5R3 | c.-49+27476C= (n.-49+27476C=) c.631C= (p.Gln211=) | |
22 | g.42693321G>T | CA411811911 | A4GALT,CYB5R3 | c.-49+27476C>A (n.-49+27476C>A) c.631C>A (p.Gln211Lys) | |
22 | g.42693322G>A | CA515072332 | A4GALT,CYB5R3 | c.-49+27475C>T (n.-49+27475C>T) c.630C>T (p.Thr210=) | gnomAD v4 |
22 | g.42693322G>C | CA515072334 | A4GALT,CYB5R3 | c.-49+27475C>G (n.-49+27475C>G) c.630C>G (p.Thr210=) | gnomAD v4 |
22 | g.42693322G>T | CA515072336 | A4GALT,CYB5R3 | c.-49+27475C>A (n.-49+27475C>A) c.630C>A (p.Thr210=) | |
22 | g.42693323G>A | CA411811916 | A4GALT,CYB5R3 | c.-49+27474C>T (n.-49+27474C>T) c.629C>T (p.Thr210Ile) | gnomAD v4 |
22 | g.42693323G>C | CA411811914 | A4GALT,CYB5R3 | c.-49+27474C>G (n.-49+27474C>G) c.629C>G (p.Thr210Ser) | |
22 | g.42693323G>T | CA411811912 | A4GALT,CYB5R3 | c.-49+27474C>A (n.-49+27474C>A) c.629C>A (p.Thr210Asn) | |
22 | g.42693324T>A | CA411811918 | A4GALT,CYB5R3 | c.-49+27473A>T (n.-49+27473A>T) c.628A>T (p.Thr210Ser) | |
22 | g.42693324T>C | CA411811920 | A4GALT,CYB5R3 | c.-49+27473A>G (n.-49+27473A>G) c.628A>G (p.Thr210Ala) | |
22 | g.42693324T>G | CA10270252 | A4GALT,CYB5R3 | c.-49+27473A>C (n.-49+27473A>C) c.628A>C (p.Thr210Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.42693324T= | CA2406870240 | A4GALT,CYB5R3 | c.-49+27473A= (n.-49+27473A=) c.628A= (p.Thr210=) | |
22 | g.42693325G>A | CA10270253 | A4GALT,CYB5R3 | c.-49+27472C>T (n.-49+27472C>T) c.627C>T (p.Gly209=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.42693325G>C | CA515072350 | A4GALT,CYB5R3 | c.-49+27472C>G (n.-49+27472C>G) c.627C>G (p.Gly209=) | gnomAD v4 |
22 | g.42693325G= | CA2406870241 | A4GALT,CYB5R3 | c.-49+27472C= (n.-49+27472C=) c.627C= (p.Gly209=) | |
22 | g.42693325G>T | CA515072352 | A4GALT,CYB5R3 | c.-49+27472C>A (n.-49+27472C>A) c.627C>A (p.Gly209=) | |
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) |