UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.42693027T>A | CA411810330 | A4GALT,CYB5R3 | c.-49+27770A>T (n.-49+27770A>T) c.925A>T (p.Ser309Cys) | |
| 22 | g.42693027T>C | CA411810335 | A4GALT,CYB5R3 | c.-49+27770A>G (n.-49+27770A>G) c.925A>G (p.Ser309Gly) | |
| 22 | g.42693027T>G | CA411810332 | A4GALT,CYB5R3 | c.-49+27770A>C (n.-49+27770A>C) c.925A>C (p.Ser309Arg) | |
| 22 | g.42693028G>A | CA515070525 | A4GALT,CYB5R3 | c.-49+27769C>T (n.-49+27769C>T) c.924C>T (p.Leu308=) | gnomAD v4 COSMIC |
| 22 | g.42693028G>C | CA515070526 | A4GALT,CYB5R3 | c.-49+27769C>G (n.-49+27769C>G) c.924C>G (p.Leu308=) | |
| 22 | g.42693028G>T | CA515070527 | A4GALT,CYB5R3 | c.-49+27769C>A (n.-49+27769C>A) c.924C>A (p.Leu308=) | |
| 22 | g.42693029A= | CA2406870081 | A4GALT,CYB5R3 | c.-49+27768T= (n.-49+27768T=) c.923T= (p.Leu308=) | |
| 22 | g.42693029A>C | CA411810338 | A4GALT,CYB5R3 | c.-49+27768T>G (n.-49+27768T>G) c.923T>G (p.Leu308Arg) | |
| 22 | g.42693029A>G | CA411810341 | A4GALT,CYB5R3 | c.-49+27768T>C (n.-49+27768T>C) c.923T>C (p.Leu308Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693029A>T | CA411810342 | A4GALT,CYB5R3 | c.-49+27768T>A (n.-49+27768T>A) c.923T>A (p.Leu308His) | |
| 22 | g.42693030G>A | CA411810343 | A4GALT,CYB5R3 | c.-49+27767C>T (n.-49+27767C>T) c.922C>T (p.Leu308Phe) | |
| 22 | g.42693030G>C | CA411810344 | A4GALT,CYB5R3 | c.-49+27767C>G (n.-49+27767C>G) c.922C>G (p.Leu308Val) | |
| 22 | g.42693030G>T | CA411810345 | A4GALT,CYB5R3 | c.-49+27767C>A (n.-49+27767C>A) c.922C>A (p.Leu308Ile) | |
| 22 | g.42693031C>A | CA515070528 | A4GALT,CYB5R3 | c.-49+27766G>T (n.-49+27766G>T) c.921G>T (p.Leu307=) | |
| 22 | g.42693031C>G | CA515070529 | A4GALT,CYB5R3 | c.-49+27766G>C (n.-49+27766G>C) c.921G>C (p.Leu307=) | gnomAD v4 |
| 22 | g.42693031C>T | CA515070530 | A4GALT,CYB5R3 | c.-49+27766G>A (n.-49+27766G>A) c.921G>A (p.Leu307=) | gnomAD v4 |
| 22 | g.42693032A= | CA2406870082 | A4GALT,CYB5R3 | c.-49+27765T= (n.-49+27765T=) c.920T= (p.Leu307=) | |
| 22 | g.42693032A>C | CA411810346 | A4GALT,CYB5R3 | c.-49+27765T>G (n.-49+27765T>G) c.920T>G (p.Leu307Arg) | |
| 22 | g.42693032A>G | CA10270182 | A4GALT,CYB5R3 | c.-49+27765T>C (n.-49+27765T>C) c.920T>C (p.Leu307Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693032A>T | CA411810347 | A4GALT,CYB5R3 | c.-49+27765T>A (n.-49+27765T>A) c.920T>A (p.Leu307Gln) | |
| 22 | g.42693033G>A | CA515070531 | A4GALT,CYB5R3 | c.-49+27764C>T (n.-49+27764C>T) c.919C>T (p.Leu307=) | |
| 22 | g.42693033G>C | CA411810348 | A4GALT,CYB5R3 | c.-49+27764C>G (n.-49+27764C>G) c.919C>G (p.Leu307Val) | |
| 22 | g.42693033G>T | CA411810349 | A4GALT,CYB5R3 | c.-49+27764C>A (n.-49+27764C>A) c.919C>A (p.Leu307Met) | |
| 22 | g.42693034C>A | CA515070532 | A4GALT,CYB5R3 | c.-49+27763G>T (n.-49+27763G>T) c.918G>T (p.Arg306=) | |
| 22 | g.42693034C= | CA2406870083 | A4GALT,CYB5R3 | c.-49+27763G= (n.-49+27763G=) c.918G= (p.Arg306=) | |
| 22 | g.42693034C>G | CA515070533 | A4GALT,CYB5R3 | c.-49+27763G>C (n.-49+27763G>C) c.918G>C (p.Arg306=) | |
| 22 | g.42693034C>T | CA515070534 | A4GALT,CYB5R3 | c.-49+27763G>A (n.-49+27763G>A) c.918G>A (p.Arg306=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693035C>A | CA411810350 | A4GALT,CYB5R3 | c.-49+27762G>T (n.-49+27762G>T) c.917G>T (p.Arg306Leu) | |
| 22 | g.42693035C= | CA2406870084 | A4GALT,CYB5R3 | c.-49+27762G= (n.-49+27762G=) c.917G= (p.Arg306=) | |
| 22 | g.42693035C>G | CA411810351 | A4GALT,CYB5R3 | c.-49+27762G>C (n.-49+27762G>C) c.917G>C (p.Arg306Pro) | |
| 22 | g.42693035C>T | CA411810352 | A4GALT,CYB5R3 | c.-49+27762G>A (n.-49+27762G>A) c.917G>A (p.Arg306Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693036G>A | CA10270183 | A4GALT,CYB5R3 | c.-49+27761C>T (n.-49+27761C>T) c.916C>T (p.Arg306Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693036G>C | CA411810353 | A4GALT,CYB5R3 | c.-49+27761C>G (n.-49+27761C>G) c.916C>G (p.Arg306Gly) | |
| 22 | g.42693036G= | CA2406870085 | A4GALT,CYB5R3 | c.-49+27761C= (n.-49+27761C=) c.916C= (p.Arg306=) | |
| 22 | g.42693036G>T | CA515070535 | A4GALT,CYB5R3 | c.-49+27761C>A (n.-49+27761C>A) c.916C>A (p.Arg306=) | |
| 22 | g.42693037C>A | CA515070536 | A4GALT,CYB5R3 | c.-49+27760G>T (n.-49+27760G>T) c.915G>T (p.Pro305=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693037C= | CA2406870086 | A4GALT,CYB5R3 | c.-49+27760G= (n.-49+27760G=) c.915G= (p.Pro305=) | |
| 22 | g.42693037C>G | CA515070537 | A4GALT,CYB5R3 | c.-49+27760G>C (n.-49+27760G>C) c.915G>C (p.Pro305=) | dbSNP gnomAD v4 |
| 22 | g.42693037C>T | CA10270184 | A4GALT,CYB5R3 | c.-49+27760G>A (n.-49+27760G>A) c.915G>A (p.Pro305=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693038G>A | CA10270185 | A4GALT,CYB5R3 | c.-49+27759C>T (n.-49+27759C>T) c.914C>T (p.Pro305Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.42693038G>C | CA411810354 | A4GALT,CYB5R3 | c.-49+27759C>G (n.-49+27759C>G) c.914C>G (p.Pro305Arg) | gnomAD v4 |
| 22 | g.42693038G= | CA2406870087 | A4GALT,CYB5R3 | c.-49+27759C= (n.-49+27759C=) c.914C= (p.Pro305=) | |
| 22 | g.42693038G>T | CA411810355 | A4GALT,CYB5R3 | c.-49+27759C>A (n.-49+27759C>A) c.914C>A (p.Pro305Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693039G>A | CA411810356 | A4GALT,CYB5R3 | c.-49+27758C>T (n.-49+27758C>T) c.913C>T (p.Pro305Ser) | |
| 22 | g.42693039G>C | CA411810357 | A4GALT,CYB5R3 | c.-49+27758C>G (n.-49+27758C>G) c.913C>G (p.Pro305Ala) | gnomAD v4 |
| 22 | g.42693039G>T | CA411810358 | A4GALT,CYB5R3 | c.-49+27758C>A (n.-49+27758C>A) c.913C>A (p.Pro305Thr) | |
| 22 | g.42693040C>A | CA515070538 | A4GALT,CYB5R3 | c.-49+27757G>T (n.-49+27757G>T) c.912G>T (p.Leu304=) | |
| 22 | g.42693040C>G | CA515070540 | A4GALT,CYB5R3 | c.-49+27757G>C (n.-49+27757G>C) c.912G>C (p.Leu304=) | |
| 22 | g.42693040C>T | CA515070539 | A4GALT,CYB5R3 | c.-49+27757G>A (n.-49+27757G>A) c.912G>A (p.Leu304=) | |
| 22 | g.42693041A>C | CA411810359 | A4GALT,CYB5R3 | c.-49+27756T>G (n.-49+27756T>G) c.911T>G (p.Leu304Arg) | |
| 22 | g.42693041A>G | CA411810360 | A4GALT,CYB5R3 | c.-49+27756T>C (n.-49+27756T>C) c.911T>C (p.Leu304Pro) | |
| 22 | g.42693041A>T | CA411810361 | A4GALT,CYB5R3 | c.-49+27756T>A (n.-49+27756T>A) c.911T>A (p.Leu304Gln) | |
| 22 | g.42693042G>A | CA515070541 | A4GALT,CYB5R3 | c.-49+27755C>T (n.-49+27755C>T) c.910C>T (p.Leu304=) | |
| 22 | g.42693042G>C | CA411810362 | A4GALT,CYB5R3 | c.-49+27755C>G (n.-49+27755C>G) c.910C>G (p.Leu304Val) | |
| 22 | g.42693042G= | CA2406870088 | A4GALT,CYB5R3 | c.-49+27755C= (n.-49+27755C=) c.910C= (p.Leu304=) | |
| 22 | g.42693042G>T | CA10270186 | A4GALT,CYB5R3 | c.-49+27755C>A (n.-49+27755C>A) c.910C>A (p.Leu304Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693043C>A | CA411810363 | A4GALT,CYB5R3 | c.-49+27754G>T (n.-49+27754G>T) c.909G>T (p.Glu303Asp) | gnomAD v4 |
| 22 | g.42693043C>G | CA411810364 | A4GALT,CYB5R3 | c.-49+27754G>C (n.-49+27754G>C) c.909G>C (p.Glu303Asp) | |
| 22 | g.42693043C>T | CA515070542 | A4GALT,CYB5R3 | c.-49+27754G>A (n.-49+27754G>A) c.909G>A (p.Glu303=) | |
| 22 | g.42693044T>A | CA411810365 | A4GALT,CYB5R3 | c.-49+27753A>T (n.-49+27753A>T) c.908A>T (p.Glu303Val) | |
| 22 | g.42693044T>C | CA411810367 | A4GALT,CYB5R3 | c.-49+27753A>G (n.-49+27753A>G) c.908A>G (p.Glu303Gly) | |
| 22 | g.42693044T>G | CA411810366 | A4GALT,CYB5R3 | c.-49+27753A>C (n.-49+27753A>C) c.908A>C (p.Glu303Ala) | |
| 22 | g.42693045C>A | CA411810368 | A4GALT,CYB5R3 | c.-49+27752G>T (n.-49+27752G>T) c.907G>T (p.Glu303Ter) | |
| 22 | g.42693045C= | CA2406870089 | A4GALT,CYB5R3 | c.-49+27752G= (n.-49+27752G=) c.907G= (p.Glu303=) | |
| 22 | g.42693045C>G | CA411810369 | A4GALT,CYB5R3 | c.-49+27752G>C (n.-49+27752G>C) c.907G>C (p.Glu303Gln) | |
| 22 | g.42693045C>T | CA10270187 | A4GALT,CYB5R3 | c.-49+27752G>A (n.-49+27752G>A) c.907G>A (p.Glu303Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 22 | g.42693046C>A | CA411810370 | A4GALT,CYB5R3 | c.-49+27751G>T (n.-49+27751G>T) c.906G>T (p.Glu302Asp) | |
| 22 | g.42693046C= | CA2406870090 | A4GALT,CYB5R3 | c.-49+27751G= (n.-49+27751G=) c.906G= (p.Glu302=) | |
| 22 | g.42693046C>G | CA411810371 | A4GALT,CYB5R3 | c.-49+27751G>C (n.-49+27751G>C) c.906G>C (p.Glu302Asp) | ClinVar |
| 22 | g.42693046C>T | CA515070543 | A4GALT,CYB5R3 | c.-49+27751G>A (n.-49+27751G>A) c.906G>A (p.Glu302=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693047T>A | CA411810374 | A4GALT,CYB5R3 | c.-49+27750A>T (n.-49+27750A>T) c.905A>T (p.Glu302Val) | |
| 22 | g.42693047T>C | CA411810373 | A4GALT,CYB5R3 | c.-49+27750A>G (n.-49+27750A>G) c.905A>G (p.Glu302Gly) | |
| 22 | g.42693047T>G | CA411810372 | A4GALT,CYB5R3 | c.-49+27750A>C (n.-49+27750A>C) c.905A>C (p.Glu302Ala) | |
| 22 | g.42693048C>A | CA411810375 | A4GALT,CYB5R3 | c.-49+27749G>T (n.-49+27749G>T) c.904G>T (p.Glu302Ter) | |
| 22 | g.42693048C= | CA2406870091 | A4GALT,CYB5R3 | c.-49+27749G= (n.-49+27749G=) c.904G= (p.Glu302=) | |
| 22 | g.42693048C>G | CA411810376 | A4GALT,CYB5R3 | c.-49+27749G>C (n.-49+27749G>C) c.904G>C (p.Glu302Gln) | gnomAD v4 |
| 22 | g.42693048C>T | CA10270188 | A4GALT,CYB5R3 | c.-49+27749G>A (n.-49+27749G>A) c.904G>A (p.Glu302Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693049G>A | CA10270191 | A4GALT,CYB5R3 | c.-49+27748C>T (n.-49+27748C>T) c.903C>T (p.Pro301=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693049G>C | CA10270189 | A4GALT,CYB5R3 | c.-49+27748C>G (n.-49+27748C>G) c.903C>G (p.Pro301=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693049G= | CA2406870092 | A4GALT,CYB5R3 | c.-49+27748C= (n.-49+27748C=) c.903C= (p.Pro301=) | |
| 22 | g.42693049G>T | CA10270190 | A4GALT,CYB5R3 | c.-49+27748C>A (n.-49+27748C>A) c.903C>A (p.Pro301=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693052del | CA2657079252 | A4GALT,CYB5R3 | c.-49+27748del (n.-49+27748del) c.903del (p.Glu302ArgfsTer?) | gnomAD v4 |
| 22 | g.42693050G>A | CA411810377 | A4GALT,CYB5R3 | c.-49+27747C>T (n.-49+27747C>T) c.902C>T (p.Pro301Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693050G>C | CA411810379 | A4GALT,CYB5R3 | c.-49+27747C>G (n.-49+27747C>G) c.902C>G (p.Pro301Arg) | |
| 22 | g.42693050G= | CA2406870093 | A4GALT,CYB5R3 | c.-49+27747C= (n.-49+27747C=) c.902C= (p.Pro301=) | |
| 22 | g.42693050G>T | CA411810378 | A4GALT,CYB5R3 | c.-49+27747C>A (n.-49+27747C>A) c.902C>A (p.Pro301His) | gnomAD v4 |
| 22 | g.42693051G>A | CA411810380 | A4GALT,CYB5R3 | c.-49+27746C>T (n.-49+27746C>T) c.901C>T (p.Pro301Ser) | dbSNP gnomAD v4 |
| 22 | g.42693051G>C | CA411810381 | A4GALT,CYB5R3 | c.-49+27746C>G (n.-49+27746C>G) c.901C>G (p.Pro301Ala) | |
| 22 | g.42693051G= | CA2406870094 | A4GALT,CYB5R3 | c.-49+27746C= (n.-49+27746C=) c.901C= (p.Pro301=) | |
| 22 | g.42693051G>T | CA411810382 | A4GALT,CYB5R3 | c.-49+27746C>A (n.-49+27746C>A) c.901C>A (p.Pro301Thr) | |
| 22 | g.42693052G>A | CA515071675 | A4GALT,CYB5R3 | c.-49+27745C>T (n.-49+27745C>T) c.900C>T (p.Asn300=) | |
| 22 | g.42693052G>C | CA411810383 | A4GALT,CYB5R3 | c.-49+27745C>G (n.-49+27745C>G) c.900C>G (p.Asn300Lys) | |
| 22 | g.42693052G>T | CA411810384 | A4GALT,CYB5R3 | c.-49+27745C>A (n.-49+27745C>A) c.900C>A (p.Asn300Lys) | |
| 22 | g.42693053T>A | CA411810385 | A4GALT,CYB5R3 | c.-49+27744A>T (n.-49+27744A>T) c.899A>T (p.Asn300Ile) | |
| 22 | g.42693053T>C | CA411810386 | A4GALT,CYB5R3 | c.-49+27744A>G (n.-49+27744A>G) c.899A>G (p.Asn300Ser) | |
| 22 | g.42693053T>G | CA411810387 | A4GALT,CYB5R3 | c.-49+27744A>C (n.-49+27744A>C) c.899A>C (p.Asn300Thr) | |
| 22 | g.42693054T>A | CA411810388 | A4GALT,CYB5R3 | c.-49+27743A>T (n.-49+27743A>T) c.898A>T (p.Asn300Tyr) | |
| 22 | g.42693054T>C | CA411810389 | A4GALT,CYB5R3 | c.-49+27743A>G (n.-49+27743A>G) c.898A>G (p.Asn300Asp) | |
| 22 | g.42693054T>G | CA411810390 | A4GALT,CYB5R3 | c.-49+27743A>C (n.-49+27743A>C) c.898A>C (p.Asn300His) | |
| 22 | g.42693055G>A | CA515071691 | A4GALT,CYB5R3 | c.-49+27742C>T (n.-49+27742C>T) c.897C>T (p.Ile299=) | dbSNP |
| 22 | g.42693055G>C | CA411810391 | A4GALT,CYB5R3 | c.-49+27742C>G (n.-49+27742C>G) c.897C>G (p.Ile299Met) | |
| 22 | g.42693055G>T | CA515071689 | A4GALT,CYB5R3 | c.-49+27742C>A (n.-49+27742C>A) c.897C>A (p.Ile299=) | |
| 22 | g.42693056A>C | CA411810394 | A4GALT,CYB5R3 | c.-49+27741T>G (n.-49+27741T>G) c.896T>G (p.Ile299Ser) | |
| 22 | g.42693056A>G | CA411810392 | A4GALT,CYB5R3 | c.-49+27741T>C (n.-49+27741T>C) c.896T>C (p.Ile299Thr) | |
| 22 | g.42693056A>T | CA411810393 | A4GALT,CYB5R3 | c.-49+27741T>A (n.-49+27741T>A) c.896T>A (p.Ile299Asn) | |
| 22 | g.42693057T>A | CA411810395 | A4GALT,CYB5R3 | c.-49+27740A>T (n.-49+27740A>T) c.895A>T (p.Ile299Phe) | gnomAD v4 |
| 22 | g.42693057T>C | CA411810396 | A4GALT,CYB5R3 | c.-49+27740A>G (n.-49+27740A>G) c.895A>G (p.Ile299Val) | |
| 22 | g.42693057T>G | CA411810397 | A4GALT,CYB5R3 | c.-49+27740A>C (n.-49+27740A>C) c.895A>C (p.Ile299Leu) | dbSNP gnomAD v2 |
| 22 | g.42693057T= | CA2406870095 | A4GALT,CYB5R3 | c.-49+27740A= (n.-49+27740A=) c.895A= (p.Ile299=) | |
| 22 | g.42693058G>A | CA324732138 | A4GALT,CYB5R3 | c.-49+27739C>T (n.-49+27739C>T) c.894C>T (p.Asp298=) | dbSNP |
| 22 | g.42693058G>C | CA411810398 | A4GALT,CYB5R3 | c.-49+27739C>G (n.-49+27739C>G) c.894C>G (p.Asp298Glu) | |
| 22 | g.42693058G= | CA2406870096 | A4GALT,CYB5R3 | c.-49+27739C= (n.-49+27739C=) c.894C= (p.Asp298=) | |
| 22 | g.42693058G>T | CA411810399 | A4GALT,CYB5R3 | c.-49+27739C>A (n.-49+27739C>A) c.894C>A (p.Asp298Glu) | gnomAD v4 |
| 22 | g.42693059T>A | CA411810402 | A4GALT,CYB5R3 | c.-49+27738A>T (n.-49+27738A>T) c.893A>T (p.Asp298Val) | |
| 22 | g.42693059T>C | CA411810400 | A4GALT,CYB5R3 | c.-49+27738A>G (n.-49+27738A>G) c.893A>G (p.Asp298Gly) | |
| 22 | g.42693059T>G | CA411810401 | A4GALT,CYB5R3 | c.-49+27738A>C (n.-49+27738A>C) c.893A>C (p.Asp298Ala) | |
| 22 | g.42693060C>A | CA10270192 | A4GALT,CYB5R3 | c.-49+27737G>T (n.-49+27737G>T) c.892G>T (p.Asp298Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693060C= | CA2406870097 | A4GALT,CYB5R3 | c.-49+27737G= (n.-49+27737G=) c.892G= (p.Asp298=) | |
| 22 | g.42693060C>G | CA411810403 | A4GALT,CYB5R3 | c.-49+27737G>C (n.-49+27737G>C) c.892G>C (p.Asp298His) | |
| 22 | g.42693060C>T | CA411810404 | A4GALT,CYB5R3 | c.-49+27737G>A (n.-49+27737G>A) c.892G>A (p.Asp298Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693061C>A | CA411810405 | A4GALT,CYB5R3 | c.-49+27736G>T (n.-49+27736G>T) c.891G>T (p.Glu297Asp) | dbSNP gnomAD v2 |
| 22 | g.42693061C= | CA2406870098 | A4GALT,CYB5R3 | c.-49+27736G= (n.-49+27736G=) c.891G= (p.Glu297=) | |
| 22 | g.42693061C>G | CA411810406 | A4GALT,CYB5R3 | c.-49+27736G>C (n.-49+27736G>C) c.891G>C (p.Glu297Asp) | |
| 22 | g.42693061C>T | CA515071719 | A4GALT,CYB5R3 | c.-49+27736G>A (n.-49+27736G>A) c.891G>A (p.Glu297=) | |
| 22 | g.42693062T>A | CA411810407 | A4GALT,CYB5R3 | c.-49+27735A>T (n.-49+27735A>T) c.890A>T (p.Glu297Val) | |
| 22 | g.42693062T>C | CA411810409 | A4GALT,CYB5R3 | c.-49+27735A>G (n.-49+27735A>G) c.890A>G (p.Glu297Gly) | |
| 22 | g.42693062T>G | CA411810408 | A4GALT,CYB5R3 | c.-49+27735A>C (n.-49+27735A>C) c.890A>C (p.Glu297Ala) | dbSNP |
| 22 | g.42693062T= | CA2406870099 | A4GALT,CYB5R3 | c.-49+27735A= (n.-49+27735A=) c.890A= (p.Glu297=) | |
| 22 | g.42693063C>A | CA411810410 | A4GALT,CYB5R3 | c.-49+27734G>T (n.-49+27734G>T) c.889G>T (p.Glu297Ter) | |
| 22 | g.42693063C= | CA2406870100 | A4GALT,CYB5R3 | c.-49+27734G= (n.-49+27734G=) c.889G= (p.Glu297=) | |
| 22 | g.42693063C>G | CA411810411 | A4GALT,CYB5R3 | c.-49+27734G>C (n.-49+27734G>C) c.889G>C (p.Glu297Gln) | |
| 22 | g.42693063C>T | CA411810412 | A4GALT,CYB5R3 | c.-49+27734G>A (n.-49+27734G>A) c.889G>A (p.Glu297Lys) | dbSNP gnomAD v4 |
| 22 | g.42693064A>C | CA411810413 | A4GALT,CYB5R3 | c.-49+27733T>G (n.-49+27733T>G) c.888T>G (p.Phe296Leu) | |
| 22 | g.42693064A>G | CA515071734 | A4GALT,CYB5R3 | c.-49+27733T>C (n.-49+27733T>C) c.888T>C (p.Phe296=) | gnomAD v4 |
| 22 | g.42693064A>T | CA411810414 | A4GALT,CYB5R3 | c.-49+27733T>A (n.-49+27733T>A) c.888T>A (p.Phe296Leu) | |
| 22 | g.42693065A>C | CA411810415 | A4GALT,CYB5R3 | c.-49+27732T>G (n.-49+27732T>G) c.887T>G (p.Phe296Cys) | |
| 22 | g.42693065A>G | CA411810416 | A4GALT,CYB5R3 | c.-49+27732T>C (n.-49+27732T>C) c.887T>C (p.Phe296Ser) | gnomAD v4 |
| 22 | g.42693065A>T | CA411810417 | A4GALT,CYB5R3 | c.-49+27732T>A (n.-49+27732T>A) c.887T>A (p.Phe296Tyr) | |
| 22 | g.42693066A>C | CA411810418 | A4GALT,CYB5R3 | c.-49+27731T>G (n.-49+27731T>G) c.886T>G (p.Phe296Val) | |
| 22 | g.42693066A>G | CA411810419 | A4GALT,CYB5R3 | c.-49+27731T>C (n.-49+27731T>C) c.886T>C (p.Phe296Leu) | |
| 22 | g.42693066A>T | CA411810420 | A4GALT,CYB5R3 | c.-49+27731T>A (n.-49+27731T>A) c.886T>A (p.Phe296Ile) | |
| 22 | g.42693067G>A | CA10270193 | A4GALT,CYB5R3 | c.-49+27730C>T (n.-49+27730C>T) c.885C>T (p.Tyr295=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693067G>C | CA411810422 | A4GALT,CYB5R3 | c.-49+27730C>G (n.-49+27730C>G) c.885C>G (p.Tyr295Ter) | |
| 22 | g.42693067G= | CA2406870101 | A4GALT,CYB5R3 | c.-49+27730C= (n.-49+27730C=) c.885C= (p.Tyr295=) | |
| 22 | g.42693067G>T | CA411810421 | A4GALT,CYB5R3 | c.-49+27730C>A (n.-49+27730C>A) c.885C>A (p.Tyr295Ter) | |
| 22 | g.42693068T>A | CA411810423 | A4GALT,CYB5R3 | c.-49+27729A>T (n.-49+27729A>T) c.884A>T (p.Tyr295Phe) | |
| 22 | g.42693068T>C | CA411810425 | A4GALT,CYB5R3 | c.-49+27729A>G (n.-49+27729A>G) c.884A>G (p.Tyr295Cys) | |
| 22 | g.42693068T>G | CA411810424 | A4GALT,CYB5R3 | c.-49+27729A>C (n.-49+27729A>C) c.884A>C (p.Tyr295Ser) | |
| 22 | g.42693069A= | CA2406870102 | A4GALT,CYB5R3 | c.-49+27728T= (n.-49+27728T=) c.883T= (p.Tyr295=) | |
| 22 | g.42693069A>C | CA411810426 | A4GALT,CYB5R3 | c.-49+27728T>G (n.-49+27728T>G) c.883T>G (p.Tyr295Asp) | |
| 22 | g.42693069A>G | CA411810427 | A4GALT,CYB5R3 | c.-49+27728T>C (n.-49+27728T>C) c.883T>C (p.Tyr295His) | gnomAD v4 |
| 22 | g.42693069A>T | CA324732142 | A4GALT,CYB5R3 | c.-49+27728T>A (n.-49+27728T>A) c.883T>A (p.Tyr295Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693070C>A | CA411810428 | A4GALT,CYB5R3 | c.-49+27727G>T (n.-49+27727G>T) c.882G>T (p.Lys294Asn) | |
| 22 | g.42693070C>G | CA411810429 | A4GALT,CYB5R3 | c.-49+27727G>C (n.-49+27727G>C) c.882G>C (p.Lys294Asn) | |
| 22 | g.42693070C>T | CA515071768 | A4GALT,CYB5R3 | c.-49+27727G>A (n.-49+27727G>A) c.882G>A (p.Lys294=) | gnomAD v4 |
| 22 | g.42693071T>A | CA411810430 | A4GALT,CYB5R3 | c.-49+27726A>T (n.-49+27726A>T) c.881A>T (p.Lys294Met) | |
| 22 | g.42693071T>C | CA324732145 | A4GALT,CYB5R3 | c.-49+27726A>G (n.-49+27726A>G) c.881A>G (p.Lys294Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693071T>G | CA411810431 | A4GALT,CYB5R3 | c.-49+27726A>C (n.-49+27726A>C) c.881A>C (p.Lys294Thr) | |
| 22 | g.42693071T= | CA2406870103 | A4GALT,CYB5R3 | c.-49+27726A= (n.-49+27726A=) c.881A= (p.Lys294=) | |
| 22 | g.42693072T>A | CA411810432 | A4GALT,CYB5R3 | c.-49+27725A>T (n.-49+27725A>T) c.880A>T (p.Lys294Ter) | |
| 22 | g.42693072T>C | CA411810433 | A4GALT,CYB5R3 | c.-49+27725A>G (n.-49+27725A>G) c.880A>G (p.Lys294Glu) | |
| 22 | g.42693072T>G | CA411810434 | A4GALT,CYB5R3 | c.-49+27725A>C (n.-49+27725A>C) c.880A>C (p.Lys294Gln) | |
| 22 | g.42693073C>A | CA411810436 | A4GALT,CYB5R3 | c.-49+27724G>T (n.-49+27724G>T) c.879G>T (p.Lys293Asn) | gnomAD v4 |
| 22 | g.42693073C>G | CA411810435 | A4GALT,CYB5R3 | c.-49+27724G>C (n.-49+27724G>C) c.879G>C (p.Lys293Asn) | |
| 22 | g.42693073C>T | CA515071783 | A4GALT,CYB5R3 | c.-49+27724G>A (n.-49+27724G>A) c.879G>A (p.Lys293=) | |
| 22 | g.42693074T>A | CA411810437 | A4GALT,CYB5R3 | c.-49+27723A>T (n.-49+27723A>T) c.878A>T (p.Lys293Met) | |
| 22 | g.42693074T>C | CA411810438 | A4GALT,CYB5R3 | c.-49+27723A>G (n.-49+27723A>G) c.878A>G (p.Lys293Arg) | dbSNP |
| 22 | g.42693074T>G | CA411810439 | A4GALT,CYB5R3 | c.-49+27723A>C (n.-49+27723A>C) c.878A>C (p.Lys293Thr) | |
| 22 | g.42693075T>A | CA411810440 | A4GALT,CYB5R3 | c.-49+27722A>T (n.-49+27722A>T) c.877A>T (p.Lys293Ter) | |
| 22 | g.42693075T>C | CA411810441 | A4GALT,CYB5R3 | c.-49+27722A>G (n.-49+27722A>G) c.877A>G (p.Lys293Glu) | |
| 22 | g.42693075T>G | CA411810442 | A4GALT,CYB5R3 | c.-49+27722A>C (n.-49+27722A>C) c.877A>C (p.Lys293Gln) | |
| 22 | g.42693076C>A | CA411810443 | A4GALT,CYB5R3 | c.-49+27721G>T (n.-49+27721G>T) c.876G>T (p.Trp292Cys) | |
| 22 | g.42693076C>G | CA411810444 | A4GALT,CYB5R3 | c.-49+27721G>C (n.-49+27721G>C) c.876G>C (p.Trp292Cys) | |
| 22 | g.42693076C>T | CA411810445 | A4GALT,CYB5R3 | c.-49+27721G>A (n.-49+27721G>A) c.876G>A (p.Trp292Ter) | COSMIC |
| 22 | g.42693077C>A | CA411810446 | A4GALT,CYB5R3 | c.-49+27720G>T (n.-49+27720G>T) c.875G>T (p.Trp292Leu) | |
| 22 | g.42693077C>G | CA411810447 | A4GALT,CYB5R3 | c.-49+27720G>C (n.-49+27720G>C) c.875G>C (p.Trp292Ser) | |
| 22 | g.42693077C>T | CA411810448 | A4GALT,CYB5R3 | c.-49+27720G>A (n.-49+27720G>A) c.875G>A (p.Trp292Ter) | gnomAD v4 |
| 22 | g.42693078A>C | CA411810450 | A4GALT,CYB5R3 | c.-49+27719T>G (n.-49+27719T>G) c.874T>G (p.Trp292Gly) | |
| 22 | g.42693078A>G | CA411810451 | A4GALT,CYB5R3 | c.-49+27719T>C (n.-49+27719T>C) c.874T>C (p.Trp292Arg) | |
| 22 | g.42693078A>T | CA411810449 | A4GALT,CYB5R3 | c.-49+27719T>A (n.-49+27719T>A) c.874T>A (p.Trp292Arg) | |
| 22 | g.42693079G>A | CA515071807 | A4GALT,CYB5R3 | c.-49+27718C>T (n.-49+27718C>T) c.873C>T (p.Asp291=) | gnomAD v4 |
| 22 | g.42693079G>C | CA411810452 | A4GALT,CYB5R3 | c.-49+27718C>G (n.-49+27718C>G) c.873C>G (p.Asp291Glu) | gnomAD v4 |
| 22 | g.42693079G>T | CA411810453 | A4GALT,CYB5R3 | c.-49+27718C>A (n.-49+27718C>A) c.873C>A (p.Asp291Glu) | gnomAD v4 |
| 22 | g.42693080T>A | CA411810454 | A4GALT,CYB5R3 | c.-49+27717A>T (n.-49+27717A>T) c.872A>T (p.Asp291Val) | |
| 22 | g.42693080T>C | CA411810455 | A4GALT,CYB5R3 | c.-49+27717A>G (n.-49+27717A>G) c.872A>G (p.Asp291Gly) | |
| 22 | g.42693080T>G | CA411810456 | A4GALT,CYB5R3 | c.-49+27717A>C (n.-49+27717A>C) c.872A>C (p.Asp291Ala) | |
| 22 | g.42693081C>A | CA10270194 | A4GALT,CYB5R3 | c.-49+27716G>T (n.-49+27716G>T) c.871G>T (p.Asp291Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693081C= | CA2406870104 | A4GALT,CYB5R3 | c.-49+27716G= (n.-49+27716G=) c.871G= (p.Asp291=) | |
| 22 | g.42693081C>G | CA411810457 | A4GALT,CYB5R3 | c.-49+27716G>C (n.-49+27716G>C) c.871G>C (p.Asp291His) | |
| 22 | g.42693081C>T | CA411810458 | A4GALT,CYB5R3 | c.-49+27716G>A (n.-49+27716G>A) c.871G>A (p.Asp291Asn) | gnomAD v4 |
| 22 | g.42693082C>A | CA411810459 | A4GALT,CYB5R3 | c.-49+27715G>T (n.-49+27715G>T) c.870G>T (p.Gln290His) | |
| 22 | g.42693082C>G | CA411810460 | A4GALT,CYB5R3 | c.-49+27715G>C (n.-49+27715G>C) c.870G>C (p.Gln290His) | |
| 22 | g.42693082C>T | CA515071827 | A4GALT,CYB5R3 | c.-49+27715G>A (n.-49+27715G>A) c.870G>A (p.Gln290=) | |
| 22 | g.42693083T>A | CA411810461 | A4GALT,CYB5R3 | c.-49+27714A>T (n.-49+27714A>T) c.869A>T (p.Gln290Leu) | |
| 22 | g.42693083T>C | CA411810462 | A4GALT,CYB5R3 | c.-49+27714A>G (n.-49+27714A>G) c.869A>G (p.Gln290Arg) | gnomAD v4 |
| 22 | g.42693083T>G | CA411810463 | A4GALT,CYB5R3 | c.-49+27714A>C (n.-49+27714A>C) c.869A>C (p.Gln290Pro) | |
| 22 | g.42693084G>A | CA411810466 | A4GALT,CYB5R3 | c.-49+27713C>T (n.-49+27713C>T) c.868C>T (p.Gln290Ter) | |
| 22 | g.42693084G>C | CA411810465 | A4GALT,CYB5R3 | c.-49+27713C>G (n.-49+27713C>G) c.868C>G (p.Gln290Glu) | |
| 22 | g.42693084G>T | CA411810464 | A4GALT,CYB5R3 | c.-49+27713C>A (n.-49+27713C>A) c.868C>A (p.Gln290Lys) | |
| 22 | g.42693085C>A | CA411810467 | A4GALT,CYB5R3 | c.-49+27712G>T (n.-49+27712G>T) c.867G>T (p.Trp289Cys) | |
| 22 | g.42693085C>G | CA411810468 | A4GALT,CYB5R3 | c.-49+27712G>C (n.-49+27712G>C) c.867G>C (p.Trp289Cys) | |
| 22 | g.42693085C>T | CA411810469 | A4GALT,CYB5R3 | c.-49+27712G>A (n.-49+27712G>A) c.867G>A (p.Trp289Ter) | |
| 22 | g.42693086C>A | CA411810471 | A4GALT,CYB5R3 | c.-49+27711G>T (n.-49+27711G>T) c.866G>T (p.Trp289Leu) | |
| 22 | g.42693086C= | CA2406870105 | A4GALT,CYB5R3 | c.-49+27711G= (n.-49+27711G=) c.866G= (p.Trp289=) | |
| 22 | g.42693086C>G | CA411810473 | A4GALT,CYB5R3 | c.-49+27711G>C (n.-49+27711G>C) c.866G>C (p.Trp289Ser) | gnomAD v4 |
| 22 | g.42693086C>T | CA411810475 | A4GALT,CYB5R3 | c.-49+27711G>A (n.-49+27711G>A) c.866G>A (p.Trp289Ter) | dbSNP gnomAD v2 |
| 22 | g.42693087A>C | CA411810477 | A4GALT,CYB5R3 | c.-49+27710T>G (n.-49+27710T>G) c.865T>G (p.Trp289Gly) | |
| 22 | g.42693087A>G | CA411810479 | A4GALT,CYB5R3 | c.-49+27710T>C (n.-49+27710T>C) c.865T>C (p.Trp289Arg) | |
| 22 | g.42693087A>T | CA411810481 | A4GALT,CYB5R3 | c.-49+27710T>A (n.-49+27710T>A) c.865T>A (p.Trp289Arg) | |
| 22 | g.42693088G>A | CA515071843 | A4GALT,CYB5R3 | c.-49+27709C>T (n.-49+27709C>T) c.864C>T (p.Pro288=) | gnomAD v4 |
| 22 | g.42693088G>C | CA515071844 | A4GALT,CYB5R3 | c.-49+27709C>G (n.-49+27709C>G) c.864C>G (p.Pro288=) | |
| 22 | g.42693088G>T | CA515071845 | A4GALT,CYB5R3 | c.-49+27709C>A (n.-49+27709C>A) c.864C>A (p.Pro288=) | |
| 22 | g.42693089G>A | CA411810483 | A4GALT,CYB5R3 | c.-49+27708C>T (n.-49+27708C>T) c.863C>T (p.Pro288Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 22 | g.42693089G>C | CA411810485 | A4GALT,CYB5R3 | c.-49+27708C>G (n.-49+27708C>G) c.863C>G (p.Pro288Arg) | gnomAD v4 |
| 22 | g.42693089G= | CA2406870106 | A4GALT,CYB5R3 | c.-49+27708C= (n.-49+27708C=) c.863C= (p.Pro288=) | |
| 22 | g.42693089G>T | CA411810487 | A4GALT,CYB5R3 | c.-49+27708C>A (n.-49+27708C>A) c.863C>A (p.Pro288His) | |
| 22 | g.42693090G>A | CA10270195 | A4GALT,CYB5R3 | c.-49+27707C>T (n.-49+27707C>T) c.862C>T (p.Pro288Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693090G>C | CA411810491 | A4GALT,CYB5R3 | c.-49+27707C>G (n.-49+27707C>G) c.862C>G (p.Pro288Ala) | |
| 22 | g.42693090G= | CA2406870107 | A4GALT,CYB5R3 | c.-49+27707C= (n.-49+27707C=) c.862C= (p.Pro288=) | |
| 22 | g.42693090G>T | CA411810490 | A4GALT,CYB5R3 | c.-49+27707C>A (n.-49+27707C>A) c.862C>A (p.Pro288Thr) | |
| 22 | g.42693091G>A | CA515071858 | A4GALT,CYB5R3 | c.-49+27706C>T (n.-49+27706C>T) c.861C>T (p.Ile287=) | |
| 22 | g.42693091G>C | CA411810494 | A4GALT,CYB5R3 | c.-49+27706C>G (n.-49+27706C>G) c.861C>G (p.Ile287Met) | |
| 22 | g.42693091G>T | CA515071860 | A4GALT,CYB5R3 | c.-49+27706C>A (n.-49+27706C>A) c.861C>A (p.Ile287=) | dbSNP gnomAD v4 |
| 22 | g.42693092A= | CA2406870108 | A4GALT,CYB5R3 | c.-49+27705T= (n.-49+27705T=) c.860T= (p.Ile287=) | |
| 22 | g.42693092A>C | CA411810498 | A4GALT,CYB5R3 | c.-49+27705T>G (n.-49+27705T>G) c.860T>G (p.Ile287Ser) | |
| 22 | g.42693092A>G | CA411810496 | A4GALT,CYB5R3 | c.-49+27705T>C (n.-49+27705T>C) c.860T>C (p.Ile287Thr) | dbSNP gnomAD v2 |
| 22 | g.42693092A>T | CA411810499 | A4GALT,CYB5R3 | c.-49+27705T>A (n.-49+27705T>A) c.860T>A (p.Ile287Asn) | |
| 22 | g.42693093T>A | CA411810501 | A4GALT,CYB5R3 | c.-49+27704A>T (n.-49+27704A>T) c.859A>T (p.Ile287Phe) | |
| 22 | g.42693093T>C | CA411810505 | A4GALT,CYB5R3 | c.-49+27704A>G (n.-49+27704A>G) c.859A>G (p.Ile287Val) | |
| 22 | g.42693093T>G | CA411810503 | A4GALT,CYB5R3 | c.-49+27704A>C (n.-49+27704A>C) c.859A>C (p.Ile287Leu) | |
| 22 | g.42693093_42693094delinsTG | CA2406870109 | A4GALT,CYB5R3 | c.-49+27703_-49+27704delinsCA (n.-49+27703_-49+27704delinsCA) c.858_859delinsCA (p.Pro286=) | |
| 22 | g.42693094G>A | CA515071889 | A4GALT,CYB5R3 | c.-49+27703C>T (n.-49+27703C>T) c.858C>T (p.Pro286=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.42693094G>C | CA515071891 | A4GALT,CYB5R3 | c.-49+27703C>G (n.-49+27703C>G) c.858C>G (p.Pro286=) | |
| 22 | g.42693094G= | CA2406870110 | A4GALT,CYB5R3 | c.-49+27703C= (n.-49+27703C=) c.858C= (p.Pro286=) | |
| 22 | g.42693094G>T | CA515071919 | A4GALT,CYB5R3 | c.-49+27703C>A (n.-49+27703C>A) c.858C>A (p.Pro286=) | |
| 22 | g.42693097del | CA10270196 | A4GALT,CYB5R3 | c.-49+27703del (n.-49+27703del) c.858del (p.Ile287SerfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693095G>A | CA411810507 | A4GALT,CYB5R3 | c.-49+27702C>T (n.-49+27702C>T) c.857C>T (p.Pro286Leu) | |
| 22 | g.42693095G>C | CA324732155 | A4GALT,CYB5R3 | c.-49+27702C>G (n.-49+27702C>G) c.857C>G (p.Pro286Arg) | dbSNP |
| 22 | g.42693095G= | CA2406870111 | A4GALT,CYB5R3 | c.-49+27702C= (n.-49+27702C=) c.857C= (p.Pro286=) | |
| 22 | g.42693095G>T | CA411810510 | A4GALT,CYB5R3 | c.-49+27702C>A (n.-49+27702C>A) c.857C>A (p.Pro286His) | |
| 22 | g.42693096G>A | CA10270197 | A4GALT,CYB5R3 | c.-49+27701C>T (n.-49+27701C>T) c.856C>T (p.Pro286Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693096G>C | CA411810514 | A4GALT,CYB5R3 | c.-49+27701C>G (n.-49+27701C>G) c.856C>G (p.Pro286Ala) | dbSNP gnomAD v4 |
| 22 | g.42693096G= | CA2406870112 | A4GALT,CYB5R3 | c.-49+27701C= (n.-49+27701C=) c.856C= (p.Pro286=) | |
| 22 | g.42693096G>T | CA411810515 | A4GALT,CYB5R3 | c.-49+27701C>A (n.-49+27701C>A) c.856C>A (p.Pro286Thr) | |
| 22 | g.42693097G>A | CA10270198 | A4GALT,CYB5R3 | c.-49+27700C>T (n.-49+27700C>T) c.855C>T (p.Tyr285=) | dbSNP ExAC gnomAD v4 |
| 22 | g.42693097G>C | CA411810519 | A4GALT,CYB5R3 | c.-49+27700C>G (n.-49+27700C>G) c.855C>G (p.Tyr285Ter) | |
| 22 | g.42693097G= | CA2406870113 | A4GALT,CYB5R3 | c.-49+27700C= (n.-49+27700C=) c.855C= (p.Tyr285=) | |
| 22 | g.42693097G>T | CA411810522 | A4GALT,CYB5R3 | c.-49+27700C>A (n.-49+27700C>A) c.855C>A (p.Tyr285Ter) | |
| 22 | g.42693097_42693098dup | CA2695230995 | A4GALT,CYB5R3 | c.-49+27699_-49+27700dup (n.-49+27699_-49+27700dup) c.854_855dup (p.Pro286ThrfsTer?) | |
| 22 | g.42693098T>A | CA411810524 | A4GALT,CYB5R3 | c.-49+27699A>T (n.-49+27699A>T) c.854A>T (p.Tyr285Phe) | |
| 22 | g.42693098T>C | CA411810525 | A4GALT,CYB5R3 | c.-49+27699A>G (n.-49+27699A>G) c.854A>G (p.Tyr285Cys) | |
| 22 | g.42693098T>G | CA411810527 | A4GALT,CYB5R3 | c.-49+27699A>C (n.-49+27699A>C) c.854A>C (p.Tyr285Ser) | |
| 22 | g.42693099del | CA2657079283 | A4GALT,CYB5R3 | c.-49+27698del (n.-49+27698del) c.853del (p.Tyr285ThrfsTer?) | gnomAD v4 |
| 22 | g.42693099A>C | CA411810534 | A4GALT,CYB5R3 | c.-49+27698T>G (n.-49+27698T>G) c.853T>G (p.Tyr285Asp) | |
| 22 | g.42693099A>G | CA411810529 | A4GALT,CYB5R3 | c.-49+27698T>C (n.-49+27698T>C) c.853T>C (p.Tyr285His) | |
| 22 | g.42693099A>T | CA411810531 | A4GALT,CYB5R3 | c.-49+27698T>A (n.-49+27698T>A) c.853T>A (p.Tyr285Asn) | |
| 22 | g.42693101_42693103del | CA2577739305 | A4GALT,CYB5R3 | c.-49+27696_-49+27698del (n.-49+27696_-49+27698del) c.851_853del (p.Phe284del) | |
| 22 | g.42693100G>A | CA515071950 | A4GALT,CYB5R3 | c.-49+27697C>T (n.-49+27697C>T) c.852C>T (p.Phe284=) | |
| 22 | g.42693100G>C | CA411810535 | A4GALT,CYB5R3 | c.-49+27697C>G (n.-49+27697C>G) c.852C>G (p.Phe284Leu) | |
| 22 | g.42693100G>T | CA411810536 | A4GALT,CYB5R3 | c.-49+27697C>A (n.-49+27697C>A) c.852C>A (p.Phe284Leu) | |
| 22 | g.42693101A>C | CA411810539 | A4GALT,CYB5R3 | c.-49+27696T>G (n.-49+27696T>G) c.851T>G (p.Phe284Cys) | |
| 22 | g.42693101A>G | CA411810541 | A4GALT,CYB5R3 | c.-49+27696T>C (n.-49+27696T>C) c.851T>C (p.Phe284Ser) | gnomAD v4 |
| 22 | g.42693101A>T | CA411810543 | A4GALT,CYB5R3 | c.-49+27696T>A (n.-49+27696T>A) c.851T>A (p.Phe284Tyr) | |
| 22 | g.42693102A>C | CA411810545 | A4GALT,CYB5R3 | c.-49+27695T>G (n.-49+27695T>G) c.850T>G (p.Phe284Val) | |
| 22 | g.42693102A>G | CA411810547 | A4GALT,CYB5R3 | c.-49+27695T>C (n.-49+27695T>C) c.850T>C (p.Phe284Leu) | |
| 22 | g.42693102A>T | CA411810549 | A4GALT,CYB5R3 | c.-49+27695T>A (n.-49+27695T>A) c.850T>A (p.Phe284Ile) | gnomAD v4 |
| 22 | g.42693103G>A | CA324732159 | A4GALT,CYB5R3 | c.-49+27694C>T (n.-49+27694C>T) c.849C>T (p.Ala283=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693103G>C | CA515071969 | A4GALT,CYB5R3 | c.-49+27694C>G (n.-49+27694C>G) c.849C>G (p.Ala283=) | |
| 22 | g.42693103G= | CA2406870114 | A4GALT,CYB5R3 | c.-49+27694C= (n.-49+27694C=) c.849C= (p.Ala283=) | |
| 22 | g.42693103G>T | CA515071972 | A4GALT,CYB5R3 | c.-49+27694C>A (n.-49+27694C>A) c.849C>A (p.Ala283=) | |
| 22 | g.42693104G>A | CA411810552 | A4GALT,CYB5R3 | c.-49+27693C>T (n.-49+27693C>T) c.848C>T (p.Ala283Val) | COSMIC |
| 22 | g.42693104G>C | CA411810554 | A4GALT,CYB5R3 | c.-49+27693C>G (n.-49+27693C>G) c.848C>G (p.Ala283Gly) | dbSNP gnomAD v4 |
| 22 | g.42693104G= | CA2406870115 | A4GALT,CYB5R3 | c.-49+27693C= (n.-49+27693C=) c.848C= (p.Ala283=) | |
| 22 | g.42693104G>T | CA411810555 | A4GALT,CYB5R3 | c.-49+27693C>A (n.-49+27693C>A) c.848C>A (p.Ala283Asp) | |
| 22 | g.42693105C>A | CA411810558 | A4GALT,CYB5R3 | c.-49+27692G>T (n.-49+27692G>T) c.847G>T (p.Ala283Ser) | |
| 22 | g.42693105C>G | CA411810562 | A4GALT,CYB5R3 | c.-49+27692G>C (n.-49+27692G>C) c.847G>C (p.Ala283Pro) | |
| 22 | g.42693105C>T | CA411810559 | A4GALT,CYB5R3 | c.-49+27692G>A (n.-49+27692G>A) c.847G>A (p.Ala283Thr) | |
| 22 | g.42693106C>A | CA411810564 | A4GALT,CYB5R3 | c.-49+27691G>T (n.-49+27691G>T) c.846G>T (p.Glu282Asp) | |
| 22 | g.42693106C>G | CA411810566 | A4GALT,CYB5R3 | c.-49+27691G>C (n.-49+27691G>C) c.846G>C (p.Glu282Asp) | |
| 22 | g.42693106C>T | CA515071987 | A4GALT,CYB5R3 | c.-49+27691G>A (n.-49+27691G>A) c.846G>A (p.Glu282=) | |
| 22 | g.42693107T>A | CA411810568 | A4GALT,CYB5R3 | c.-49+27690A>T (n.-49+27690A>T) c.845A>T (p.Glu282Val) | |
| 22 | g.42693107T>C | CA411810570 | A4GALT,CYB5R3 | c.-49+27690A>G (n.-49+27690A>G) c.845A>G (p.Glu282Gly) | |
| 22 | g.42693107T>G | CA411810573 | A4GALT,CYB5R3 | c.-49+27690A>C (n.-49+27690A>C) c.845A>C (p.Glu282Ala) | |
| 22 | g.42693108C>A | CA411810576 | A4GALT,CYB5R3 | c.-49+27689G>T (n.-49+27689G>T) c.844G>T (p.Glu282Ter) | |
| 22 | g.42693108C>G | CA411810577 | A4GALT,CYB5R3 | c.-49+27689G>C (n.-49+27689G>C) c.844G>C (p.Glu282Gln) | |
| 22 | g.42693108C>T | CA411810579 | A4GALT,CYB5R3 | c.-49+27689G>A (n.-49+27689G>A) c.844G>A (p.Glu282Lys) | |
| 22 | g.42693108_42693109delinsCA | CA2406870116 | A4GALT,CYB5R3 | c.-49+27688_-49+27689delinsTG (n.-49+27688_-49+27689delinsTG) c.843_844delinsTG (p.Pro281=) | |
| 22 | g.42693109del | CA639829274 | A4GALT,CYB5R3 | c.-49+27688del (n.-49+27688del) c.843del (p.Glu282ArgfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693109A>C | CA515072005 | A4GALT,CYB5R3 | c.-49+27688T>G (n.-49+27688T>G) c.843T>G (p.Pro281=) | |
| 22 | g.42693109A>G | CA515072000 | A4GALT,CYB5R3 | c.-49+27688T>C (n.-49+27688T>C) c.843T>C (p.Pro281=) | |
| 22 | g.42693109A>T | CA515072002 | A4GALT,CYB5R3 | c.-49+27688T>A (n.-49+27688T>A) c.843T>A (p.Pro281=) | |
| 22 | g.42693110G>A | CA411810582 | A4GALT,CYB5R3 | c.-49+27687C>T (n.-49+27687C>T) c.842C>T (p.Pro281Leu) | gnomAD v4 COSMIC |
| 22 | g.42693110G>C | CA411810584 | A4GALT,CYB5R3 | c.-49+27687C>G (n.-49+27687C>G) c.842C>G (p.Pro281Arg) | |
| 22 | g.42693110G>T | CA411810586 | A4GALT,CYB5R3 | c.-49+27687C>A (n.-49+27687C>A) c.842C>A (p.Pro281His) | |
| 22 | g.42693110_42693111insTGTTGTTCATTTTTTGTTTGTTTTTCA | CA1025982031 | A4GALT,CYB5R3 | c.-49+27686_-49+27687insTGAAAAACAAACAAAAAATGAACAACA (n.-49+27686_-49+27687insTGAAAAACAAACAAAAAATGAACAACA) c.841_842insTGAAAAACAAACAAAAAATGAACAACA (p.Pro281delinsLeuLysAsnLysGlnLysMetAsnAsnThr) | gnomAD v3 gnomAD v4 |
| 22 | g.42693111G>A | CA411810591 | A4GALT,CYB5R3 | c.-49+27686C>T (n.-49+27686C>T) c.841C>T (p.Pro281Ser) | |
| 22 | g.42693111G>C | CA411810589 | A4GALT,CYB5R3 | c.-49+27686C>G (n.-49+27686C>G) c.841C>G (p.Pro281Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693111G= | CA2406870117 | A4GALT,CYB5R3 | c.-49+27686C= (n.-49+27686C=) c.841C= (p.Pro281=) | |
| 22 | g.42693111G>T | CA411810588 | A4GALT,CYB5R3 | c.-49+27686C>A (n.-49+27686C>A) c.841C>A (p.Pro281Thr) | gnomAD v4 |
| 22 | g.42693112G>A | CA515072016 | A4GALT,CYB5R3 | c.-49+27685C>T (n.-49+27685C>T) c.840C>T (p.Pro280=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 22 | g.42693112G>C | CA515072018 | A4GALT,CYB5R3 | c.-49+27685C>G (n.-49+27685C>G) c.840C>G (p.Pro280=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693112G= | CA2406870118 | A4GALT,CYB5R3 | c.-49+27685C= (n.-49+27685C=) c.840C= (p.Pro280=) | |
| 22 | g.42693112G>T | CA515072019 | A4GALT,CYB5R3 | c.-49+27685C>A (n.-49+27685C>A) c.840C>A (p.Pro280=) | gnomAD v4 |
| 22 | g.42693112_42693113insAA | CA1025982032 | A4GALT,CYB5R3 | c.-49+27684_-49+27685insTT (n.-49+27684_-49+27685insTT) c.839_840insTT (p.Pro281SerfsTer?) | gnomAD v3 gnomAD v4 |
| 22 | g.42693112_42693113insTTGTTCATTTTTTGTTTGTTTTTCA | CA2657079297 | A4GALT,CYB5R3 | c.-49+27684_-49+27685insTGAAAAACAAACAAAAAATGAACAA (n.-49+27684_-49+27685insTGAAAAACAAACAAAAAATGAACAA) c.839_840insTGAAAAACAAACAAAAAATGAACAA (p.Pro281GlufsTer10) | gnomAD v4 |
| 22 | g.42693113G>A | CA411810592 | A4GALT,CYB5R3 | c.-49+27684C>T (n.-49+27684C>T) c.839C>T (p.Pro280Leu) | dbSNP gnomAD v2 |
| 22 | g.42693113G>C | CA411810594 | A4GALT,CYB5R3 | c.-49+27684C>G (n.-49+27684C>G) c.839C>G (p.Pro280Arg) | |
| 22 | g.42693113G= | CA2406870119 | A4GALT,CYB5R3 | c.-49+27684C= (n.-49+27684C=) c.839C= (p.Pro280=) | |
| 22 | g.42693113G>T | CA411810596 | A4GALT,CYB5R3 | c.-49+27684C>A (n.-49+27684C>A) c.839C>A (p.Pro280His) | |
| 22 | g.42693114G>A | CA411810598 | A4GALT,CYB5R3 | c.-49+27683C>T (n.-49+27683C>T) c.838C>T (p.Pro280Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693114G>C | CA411810600 | A4GALT,CYB5R3 | c.-49+27683C>G (n.-49+27683C>G) c.838C>G (p.Pro280Ala) | |
| 22 | g.42693114G= | CA2406870120 | A4GALT,CYB5R3 | c.-49+27683C= (n.-49+27683C=) c.838C= (p.Pro280=) | |
| 22 | g.42693114G>T | CA411810602 | A4GALT,CYB5R3 | c.-49+27683C>A (n.-49+27683C>A) c.838C>A (p.Pro280Thr) | |
| 22 | g.42693115C>A | CA515072036 | A4GALT,CYB5R3 | c.-49+27682G>T (n.-49+27682G>T) c.837G>T (p.Leu279=) | gnomAD v4 |
| 22 | g.42693115C= | CA2406870121 | A4GALT,CYB5R3 | c.-49+27682G= (n.-49+27682G=) c.837G= (p.Leu279=) | |
| 22 | g.42693115C>G | CA515072031 | A4GALT,CYB5R3 | c.-49+27682G>C (n.-49+27682G>C) c.837G>C (p.Leu279=) | |
| 22 | g.42693115C>T | CA515072033 | A4GALT,CYB5R3 | c.-49+27682G>A (n.-49+27682G>A) c.837G>A (p.Leu279=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693116A>C | CA411810606 | A4GALT,CYB5R3 | c.-49+27681T>G (n.-49+27681T>G) c.836T>G (p.Leu279Arg) | |
| 22 | g.42693116A>G | CA411810607 | A4GALT,CYB5R3 | c.-49+27681T>C (n.-49+27681T>C) c.836T>C (p.Leu279Pro) | |
| 22 | g.42693116A>T | CA411810609 | A4GALT,CYB5R3 | c.-49+27681T>A (n.-49+27681T>A) c.836T>A (p.Leu279Gln) | |
| 22 | g.42693117G>A | CA515072048 | A4GALT,CYB5R3 | c.-49+27680C>T (n.-49+27680C>T) c.835C>T (p.Leu279=) | |
| 22 | g.42693117G>C | CA324732161 | A4GALT,CYB5R3 | c.-49+27680C>G (n.-49+27680C>G) c.835C>G (p.Leu279Val) | dbSNP |
| 22 | g.42693117G= | CA2406870122 | A4GALT,CYB5R3 | c.-49+27680C= (n.-49+27680C=) c.835C= (p.Leu279=) | |
| 22 | g.42693117G>T | CA411810612 | A4GALT,CYB5R3 | c.-49+27680C>A (n.-49+27680C>A) c.835C>A (p.Leu279Met) | gnomAD v4 |
| 22 | g.42693118G>A | CA515072052 | A4GALT,CYB5R3 | c.-49+27679C>T (n.-49+27679C>T) c.834C>T (p.Thr278=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693118G>C | CA515072054 | A4GALT,CYB5R3 | c.-49+27679C>G (n.-49+27679C>G) c.834C>G (p.Thr278=) | |
| 22 | g.42693118G= | CA2406870123 | A4GALT,CYB5R3 | c.-49+27679C= (n.-49+27679C=) c.834C= (p.Thr278=) | |
| 22 | g.42693118G>T | CA515072055 | A4GALT,CYB5R3 | c.-49+27679C>A (n.-49+27679C>A) c.834C>A (p.Thr278=) | |
| 22 | g.42693119G>A | CA411810619 | A4GALT,CYB5R3 | c.-49+27678C>T (n.-49+27678C>T) c.833C>T (p.Thr278Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693119G>C | CA411810617 | A4GALT,CYB5R3 | c.-49+27678C>G (n.-49+27678C>G) c.833C>G (p.Thr278Ser) | |
| 22 | g.42693119G= | CA2406870124 | A4GALT,CYB5R3 | c.-49+27678C= (n.-49+27678C=) c.833C= (p.Thr278=) | |
| 22 | g.42693119G>T | CA411810615 | A4GALT,CYB5R3 | c.-49+27678C>A (n.-49+27678C>A) c.833C>A (p.Thr278Asn) | |
| 22 | g.42693120T>A | CA411810622 | A4GALT,CYB5R3 | c.-49+27677A>T (n.-49+27677A>T) c.832A>T (p.Thr278Ser) | |
| 22 | g.42693120T>C | CA411810625 | A4GALT,CYB5R3 | c.-49+27677A>G (n.-49+27677A>G) c.832A>G (p.Thr278Ala) | |
| 22 | g.42693120T>G | CA411810623 | A4GALT,CYB5R3 | c.-49+27677A>C (n.-49+27677A>C) c.832A>C (p.Thr278Pro) | |
| 22 | g.42693121G>A | CA515072063 | A4GALT,CYB5R3 | c.-49+27676C>T (n.-49+27676C>T) c.831C>T (p.Thr277=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693121G>C | CA515072065 | A4GALT,CYB5R3 | c.-49+27676C>G (n.-49+27676C>G) c.831C>G (p.Thr277=) | |
| 22 | g.42693121G= | CA2406870125 | A4GALT,CYB5R3 | c.-49+27676C= (n.-49+27676C=) c.831C= (p.Thr277=) | |
| 22 | g.42693121G>T | CA515072067 | A4GALT,CYB5R3 | c.-49+27676C>A (n.-49+27676C>A) c.831C>A (p.Thr277=) | |
| 22 | g.42693122G>A | CA411810628 | A4GALT,CYB5R3 | c.-49+27675C>T (n.-49+27675C>T) c.830C>T (p.Thr277Ile) | |
| 22 | g.42693122G>C | CA411810630 | A4GALT,CYB5R3 | c.-49+27675C>G (n.-49+27675C>G) c.830C>G (p.Thr277Ser) | |
| 22 | g.42693122G>T | CA411810632 | A4GALT,CYB5R3 | c.-49+27675C>A (n.-49+27675C>A) c.830C>A (p.Thr277Asn) | |
| 22 | g.42693123T>A | CA411810634 | A4GALT,CYB5R3 | c.-49+27674A>T (n.-49+27674A>T) c.829A>T (p.Thr277Ser) | |
| 22 | g.42693123T>C | CA411810636 | A4GALT,CYB5R3 | c.-49+27674A>G (n.-49+27674A>G) c.829A>G (p.Thr277Ala) | |
| 22 | g.42693123T>G | CA411810637 | A4GALT,CYB5R3 | c.-49+27674A>C (n.-49+27674A>C) c.829A>C (p.Thr277Pro) | dbSNP |
| 22 | g.42693123T= | CA2406870126 | A4GALT,CYB5R3 | c.-49+27674A= (n.-49+27674A=) c.829A= (p.Thr277=) | |
| 22 | g.42693124G>A | CA515072072 | A4GALT,CYB5R3 | c.-49+27673C>T (n.-49+27673C>T) c.828C>T (p.Val276=) | |
| 22 | g.42693124G>C | CA515072074 | A4GALT,CYB5R3 | c.-49+27673C>G (n.-49+27673C>G) c.828C>G (p.Val276=) | |
| 22 | g.42693124G>T | CA515072076 | A4GALT,CYB5R3 | c.-49+27673C>A (n.-49+27673C>A) c.828C>A (p.Val276=) | |
| 22 | g.42693125A>C | CA411810640 | A4GALT,CYB5R3 | c.-49+27672T>G (n.-49+27672T>G) c.827T>G (p.Val276Gly) | |
| 22 | g.42693125A>G | CA411810642 | A4GALT,CYB5R3 | c.-49+27672T>C (n.-49+27672T>C) c.827T>C (p.Val276Ala) | dbSNP |
| 22 | g.42693125A>T | CA411810644 | A4GALT,CYB5R3 | c.-49+27672T>A (n.-49+27672T>A) c.827T>A (p.Val276Asp) | |
| 22 | g.42693126C>A | CA411810646 | A4GALT,CYB5R3 | c.-49+27671G>T (n.-49+27671G>T) c.826G>T (p.Val276Phe) | gnomAD v4 |
| 22 | g.42693126C= | CA2406870127 | A4GALT,CYB5R3 | c.-49+27671G= (n.-49+27671G=) c.826G= (p.Val276=) | |
| 22 | g.42693126C>G | CA411810648 | A4GALT,CYB5R3 | c.-49+27671G>C (n.-49+27671G>C) c.826G>C (p.Val276Leu) | |
| 22 | g.42693126C>T | CA10270199 | A4GALT,CYB5R3 | c.-49+27671G>A (n.-49+27671G>A) c.826G>A (p.Val276Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.42693127G>A | CA10270200 | A4GALT,CYB5R3 | c.-49+27670C>T (n.-49+27670C>T) c.825C>T (p.Gly275=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693127G>C | CA515072083 | A4GALT,CYB5R3 | c.-49+27670C>G (n.-49+27670C>G) c.825C>G (p.Gly275=) | |
| 22 | g.42693127G= | CA2406870128 | A4GALT,CYB5R3 | c.-49+27670C= (n.-49+27670C=) c.825C= (p.Gly275=) | |
| 22 | g.42693127G>T | CA515072084 | A4GALT,CYB5R3 | c.-49+27670C>A (n.-49+27670C>A) c.825C>A (p.Gly275=) | gnomAD v4 |
| 22 | g.42693127_42693137del | CA2577739306 | A4GALT,CYB5R3 | c.-49+27660_-49+27670del (n.-49+27660_-49+27670del) c.815_825del (p.Ala272GlyfsTer7) | gnomAD v4 |