OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.42693425T>A | CA411812166 | A4GALT,CYB5R3 | c.-49+27372A>T (n.-49+27372A>T) c.527A>T (p.Asp176Val) | |
| 22 | g.42693425T>C | CA411812167 | A4GALT,CYB5R3 | c.-49+27372A>G (n.-49+27372A>G) c.527A>G (p.Asp176Gly) | |
| 22 | g.42693425T>G | CA411812168 | A4GALT,CYB5R3 | c.-49+27372A>C (n.-49+27372A>C) c.527A>C (p.Asp176Ala) | |
| 22 | g.42693426C>A | CA411812169 | A4GALT,CYB5R3 | c.-49+27371G>T (n.-49+27371G>T) c.526G>T (p.Asp176Tyr) | |
| 22 | g.42693426C= | CA2406870290 | A4GALT,CYB5R3 | c.-49+27371G= (n.-49+27371G=) c.526G= (p.Asp176=) | |
| 22 | g.42693426C>G | CA411812170 | A4GALT,CYB5R3 | c.-49+27371G>C (n.-49+27371G>C) c.526G>C (p.Asp176His) | |
| 22 | g.42693426C>T | CA10270276 | A4GALT,CYB5R3 | c.-49+27371G>A (n.-49+27371G>A) c.526G>A (p.Asp176Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693427G>A | CA10270277 | A4GALT,CYB5R3 | c.-49+27370C>T (n.-49+27370C>T) c.525C>T (p.Ser175=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.42693427G>C | CA515072755 | A4GALT,CYB5R3 | c.-49+27370C>G (n.-49+27370C>G) c.525C>G (p.Ser175=) | |
| 22 | g.42693427G= | CA2406870291 | A4GALT,CYB5R3 | c.-49+27370C= (n.-49+27370C=) c.525C= (p.Ser175=) | |
| 22 | g.42693427G>T | CA515072753 | A4GALT,CYB5R3 | c.-49+27370C>A (n.-49+27370C>A) c.525C>A (p.Ser175=) | |
| 22 | g.42693428G>A | CA411812171 | A4GALT,CYB5R3 | c.-49+27369C>T (n.-49+27369C>T) c.524C>T (p.Ser175Phe) | COSMIC |
| 22 | g.42693428G>C | CA411812172 | A4GALT,CYB5R3 | c.-49+27369C>G (n.-49+27369C>G) c.524C>G (p.Ser175Cys) | gnomAD v4 |
| 22 | g.42693428G>T | CA411812173 | A4GALT,CYB5R3 | c.-49+27369C>A (n.-49+27369C>A) c.524C>A (p.Ser175Tyr) | |
| 22 | g.42693429A>C | CA411812174 | A4GALT,CYB5R3 | c.-49+27368T>G (n.-49+27368T>G) c.523T>G (p.Ser175Ala) | gnomAD v4 |
| 22 | g.42693429A>G | CA411812175 | A4GALT,CYB5R3 | c.-49+27368T>C (n.-49+27368T>C) c.523T>C (p.Ser175Pro) | |
| 22 | g.42693429A>T | CA411812176 | A4GALT,CYB5R3 | c.-49+27368T>A (n.-49+27368T>A) c.523T>A (p.Ser175Thr) | |
| 22 | g.42693430G>A | CA515072772 | A4GALT,CYB5R3 | c.-49+27367C>T (n.-49+27367C>T) c.522C>T (p.Leu174=) | |
| 22 | g.42693430G>C | CA515072773 | A4GALT,CYB5R3 | c.-49+27367C>G (n.-49+27367C>G) c.522C>G (p.Leu174=) | |
| 22 | g.42693430G>T | CA515072774 | A4GALT,CYB5R3 | c.-49+27367C>A (n.-49+27367C>A) c.522C>A (p.Leu174=) | |
| 22 | g.42693431A= | CA2406870292 | A4GALT,CYB5R3 | c.-49+27366T= (n.-49+27366T=) c.521T= (p.Leu174=) | |
| 22 | g.42693431A>C | CA411812177 | A4GALT,CYB5R3 | c.-49+27366T>G (n.-49+27366T>G) c.521T>G (p.Leu174Arg) | |
| 22 | g.42693431A>G | CA411812178 | A4GALT,CYB5R3 | c.-49+27366T>C (n.-49+27366T>C) c.521T>C (p.Leu174Pro) | |
| 22 | g.42693431A>T | CA411812179 | A4GALT,CYB5R3 | c.-49+27366T>A (n.-49+27366T>A) c.521T>A (p.Leu174His) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693432G>A | CA10270278 | A4GALT,CYB5R3 | c.-49+27365C>T (n.-49+27365C>T) c.520C>T (p.Leu174Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693432G>C | CA411812180 | A4GALT,CYB5R3 | c.-49+27365C>G (n.-49+27365C>G) c.520C>G (p.Leu174Val) | |
| 22 | g.42693432G= | CA2406870293 | A4GALT,CYB5R3 | c.-49+27365C= (n.-49+27365C=) c.520C= (p.Leu174=) | |
| 22 | g.42693432G>T | CA411812181 | A4GALT,CYB5R3 | c.-49+27365C>A (n.-49+27365C>A) c.520C>A (p.Leu174Ile) | |
| 22 | g.42693433C>A | CA515072786 | A4GALT,CYB5R3 | c.-49+27364G>T (n.-49+27364G>T) c.519G>T (p.Val173=) | |
| 22 | g.42693433C>G | CA515072788 | A4GALT,CYB5R3 | c.-49+27364G>C (n.-49+27364G>C) c.519G>C (p.Val173=) | |
| 22 | g.42693433C>T | CA515072791 | A4GALT,CYB5R3 | c.-49+27364G>A (n.-49+27364G>A) c.519G>A (p.Val173=) | |
| 22 | g.42693434A= | CA2406870294 | A4GALT,CYB5R3 | c.-49+27363T= (n.-49+27363T=) c.518T= (p.Val173=) | |
| 22 | g.42693434A>C | CA411812182 | A4GALT,CYB5R3 | c.-49+27363T>G (n.-49+27363T>G) c.518T>G (p.Val173Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693434A>G | CA411812184 | A4GALT,CYB5R3 | c.-49+27363T>C (n.-49+27363T>C) c.518T>C (p.Val173Ala) | |
| 22 | g.42693434A>T | CA411812183 | A4GALT,CYB5R3 | c.-49+27363T>A (n.-49+27363T>A) c.518T>A (p.Val173Glu) | gnomAD v4 |
| 22 | g.42693435C>A | CA411812185 | A4GALT,CYB5R3 | c.-49+27362G>T (n.-49+27362G>T) c.517G>T (p.Val173Leu) | |
| 22 | g.42693435C= | CA2406870295 | A4GALT,CYB5R3 | c.-49+27362G= (n.-49+27362G=) c.517G= (p.Val173=) | |
| 22 | g.42693435C>G | CA411812186 | A4GALT,CYB5R3 | c.-49+27362G>C (n.-49+27362G>C) c.517G>C (p.Val173Leu) | gnomAD v4 |
| 22 | g.42693435C>T | CA10270279 | A4GALT,CYB5R3 | c.-49+27362G>A (n.-49+27362G>A) c.517G>A (p.Val173Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.42693436G>A | CA324732328 | A4GALT,CYB5R3 | c.-49+27361C>T (n.-49+27361C>T) c.516C>T (p.Pro172=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693436G>C | CA515070616 | A4GALT,CYB5R3 | c.-49+27361C>G (n.-49+27361C>G) c.516C>G (p.Pro172=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693436G= | CA2406870296 | A4GALT,CYB5R3 | c.-49+27361C= (n.-49+27361C=) c.516C= (p.Pro172=) | |
| 22 | g.42693436G>T | CA515070617 | A4GALT,CYB5R3 | c.-49+27361C>A (n.-49+27361C>A) c.516C>A (p.Pro172=) | dbSNP |
| 22 | g.42693437G>A | CA411812187 | A4GALT,CYB5R3 | c.-49+27360C>T (n.-49+27360C>T) c.515C>T (p.Pro172Leu) | gnomAD v4 |
| 22 | g.42693437G>C | CA411812188 | A4GALT,CYB5R3 | c.-49+27360C>G (n.-49+27360C>G) c.515C>G (p.Pro172Arg) | |
| 22 | g.42693437G>T | CA411812189 | A4GALT,CYB5R3 | c.-49+27360C>A (n.-49+27360C>A) c.515C>A (p.Pro172His) | |
| 22 | g.42693438G>A | CA411812190 | A4GALT,CYB5R3 | c.-49+27359C>T (n.-49+27359C>T) c.514C>T (p.Pro172Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693438G>C | CA10270280 | A4GALT,CYB5R3 | c.-49+27359C>G (n.-49+27359C>G) c.514C>G (p.Pro172Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693438G= | CA2406870297 | A4GALT,CYB5R3 | c.-49+27359C= (n.-49+27359C=) c.514C= (p.Pro172=) | |
| 22 | g.42693438G>T | CA411812191 | A4GALT,CYB5R3 | c.-49+27359C>A (n.-49+27359C>A) c.514C>A (p.Pro172Thr) | |
| 22 | g.42693439C>A | CA515070626 | A4GALT,CYB5R3 | c.-49+27358G>T (n.-49+27358G>T) c.513G>T (p.Leu171=) | dbSNP |
| 22 | g.42693439C= | CA2406870298 | A4GALT,CYB5R3 | c.-49+27358G= (n.-49+27358G=) c.513G= (p.Leu171=) | |
| 22 | g.42693439C>G | CA515070628 | A4GALT,CYB5R3 | c.-49+27358G>C (n.-49+27358G>C) c.513G>C (p.Leu171=) | |
| 22 | g.42693439C>T | CA515070631 | A4GALT,CYB5R3 | c.-49+27358G>A (n.-49+27358G>A) c.513G>A (p.Leu171=) | ClinVar dbSNP gnomAD v4 |
| 22 | g.42693440A>C | CA411812193 | A4GALT,CYB5R3 | c.-49+27357T>G (n.-49+27357T>G) c.512T>G (p.Leu171Arg) | |
| 22 | g.42693440A>G | CA411812194 | A4GALT,CYB5R3 | c.-49+27357T>C (n.-49+27357T>C) c.512T>C (p.Leu171Pro) | gnomAD v4 |
| 22 | g.42693440A>T | CA411812192 | A4GALT,CYB5R3 | c.-49+27357T>A (n.-49+27357T>A) c.512T>A (p.Leu171Gln) | |
| 22 | g.42693441G>A | CA515070639 | A4GALT,CYB5R3 | c.-49+27356C>T (n.-49+27356C>T) c.511C>T (p.Leu171=) | gnomAD v4 |
| 22 | g.42693441G>C | CA411812195 | A4GALT,CYB5R3 | c.-49+27356C>G (n.-49+27356C>G) c.511C>G (p.Leu171Val) | |
| 22 | g.42693441G= | CA2406870299 | A4GALT,CYB5R3 | c.-49+27356C= (n.-49+27356C=) c.511C= (p.Leu171=) | |
| 22 | g.42693441G>T | CA10270281 | A4GALT,CYB5R3 | c.-49+27356C>A (n.-49+27356C>A) c.511C>A (p.Leu171Met) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 22 | g.42693442C>A | CA515070649 | A4GALT,CYB5R3 | c.-49+27355G>T (n.-49+27355G>T) c.510G>T (p.Leu170=) | gnomAD v4 |
| 22 | g.42693442C= | CA2406870300 | A4GALT,CYB5R3 | c.-49+27355G= (n.-49+27355G=) c.510G= (p.Leu170=) | |
| 22 | g.42693442C>G | CA515070644 | A4GALT,CYB5R3 | c.-49+27355G>C (n.-49+27355G>C) c.510G>C (p.Leu170=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693442C>T | CA515070646 | A4GALT,CYB5R3 | c.-49+27355G>A (n.-49+27355G>A) c.510G>A (p.Leu170=) | |
| 22 | g.42693443A>C | CA411812196 | A4GALT,CYB5R3 | c.-49+27354T>G (n.-49+27354T>G) c.509T>G (p.Leu170Arg) | |
| 22 | g.42693443A>G | CA411812197 | A4GALT,CYB5R3 | c.-49+27354T>C (n.-49+27354T>C) c.509T>C (p.Leu170Pro) | |
| 22 | g.42693443A>T | CA411812198 | A4GALT,CYB5R3 | c.-49+27354T>A (n.-49+27354T>A) c.509T>A (p.Leu170Gln) | |
| 22 | g.42693444G>A | CA515070656 | A4GALT,CYB5R3 | c.-49+27353C>T (n.-49+27353C>T) c.508C>T (p.Leu170=) | |
| 22 | g.42693444G>C | CA411812199 | A4GALT,CYB5R3 | c.-49+27353C>G (n.-49+27353C>G) c.508C>G (p.Leu170Val) | gnomAD v4 |
| 22 | g.42693444G>T | CA411812200 | A4GALT,CYB5R3 | c.-49+27353C>A (n.-49+27353C>A) c.508C>A (p.Leu170Met) | gnomAD v4 |
| 22 | g.42693445G>A | CA515070664 | A4GALT,CYB5R3 | c.-49+27352C>T (n.-49+27352C>T) c.507C>T (p.Tyr169=) | dbSNP gnomAD v4 |
| 22 | g.42693445G>C | CA411812201 | A4GALT,CYB5R3 | c.-49+27352C>G (n.-49+27352C>G) c.507C>G (p.Tyr169Ter) | |
| 22 | g.42693445G>T | CA411812202 | A4GALT,CYB5R3 | c.-49+27352C>A (n.-49+27352C>A) c.507C>A (p.Tyr169Ter) | gnomAD v4 |
| 22 | g.42693446T>A | CA411812203 | A4GALT,CYB5R3 | c.-49+27351A>T (n.-49+27351A>T) c.506A>T (p.Tyr169Phe) | |
| 22 | g.42693446T>C | CA411812204 | A4GALT,CYB5R3 | c.-49+27351A>G (n.-49+27351A>G) c.506A>G (p.Tyr169Cys) | dbSNP |
| 22 | g.42693446T>G | CA411812205 | A4GALT,CYB5R3 | c.-49+27351A>C (n.-49+27351A>C) c.506A>C (p.Tyr169Ser) | |
| 22 | g.42693446T= | CA2406870301 | A4GALT,CYB5R3 | c.-49+27351A= (n.-49+27351A=) c.506A= (p.Tyr169=) | |
| 22 | g.42693447A= | CA2406870302 | A4GALT,CYB5R3 | c.-49+27350T= (n.-49+27350T=) c.505T= (p.Tyr169=) | |
| 22 | g.42693447A>C | CA411812208 | A4GALT,CYB5R3 | c.-49+27350T>G (n.-49+27350T>G) c.505T>G (p.Tyr169Asp) | |
| 22 | g.42693447A>G | CA411812207 | A4GALT,CYB5R3 | c.-49+27350T>C (n.-49+27350T>C) c.505T>C (p.Tyr169His) | |
| 22 | g.42693447A>T | CA411812206 | A4GALT,CYB5R3 | c.-49+27350T>A (n.-49+27350T>A) c.505T>A (p.Tyr169Asn) | |
| 22 | g.42693449_42693457dup | CA10270282 | A4GALT,CYB5R3 | c.-49+27342_-49+27350dup (n.-49+27342_-49+27350dup) c.497_505dup (p.Pro168_Tyr169insTrpGluPro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693448G>A | CA10270283 | A4GALT,CYB5R3 | c.-49+27349C>T (n.-49+27349C>T) c.504C>T (p.Pro168=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693448G>C | CA515070680 | A4GALT,CYB5R3 | c.-49+27349C>G (n.-49+27349C>G) c.504C>G (p.Pro168=) | |
| 22 | g.42693448G= | CA2406870303 | A4GALT,CYB5R3 | c.-49+27349C= (n.-49+27349C=) c.504C= (p.Pro168=) | |
| 22 | g.42693448G>T | CA515070678 | A4GALT,CYB5R3 | c.-49+27349C>A (n.-49+27349C>A) c.504C>A (p.Pro168=) | |
| 22 | g.42693450dup | CA639829275 | A4GALT,CYB5R3 | c.-49+27349dup (n.-49+27349dup) c.504dup (p.Tyr169LeufsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693449G>A | CA411812209 | A4GALT,CYB5R3 | c.-49+27348C>T (n.-49+27348C>T) c.503C>T (p.Pro168Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693449G>C | CA411812210 | A4GALT,CYB5R3 | c.-49+27348C>G (n.-49+27348C>G) c.503C>G (p.Pro168Arg) | |
| 22 | g.42693449G= | CA2406870304 | A4GALT,CYB5R3 | c.-49+27348C= (n.-49+27348C=) c.503C= (p.Pro168=) | |
| 22 | g.42693449G>T | CA411812211 | A4GALT,CYB5R3 | c.-49+27348C>A (n.-49+27348C>A) c.503C>A (p.Pro168His) | |
| 22 | g.42693450G>A | CA411812214 | A4GALT,CYB5R3 | c.-49+27347C>T (n.-49+27347C>T) c.502C>T (p.Pro168Ser) | |
| 22 | g.42693450G>C | CA411812213 | A4GALT,CYB5R3 | c.-49+27347C>G (n.-49+27347C>G) c.502C>G (p.Pro168Ala) | |
| 22 | g.42693450G>T | CA411812212 | A4GALT,CYB5R3 | c.-49+27347C>A (n.-49+27347C>A) c.502C>A (p.Pro168Thr) | |
| 22 | g.42693451C>A | CA411812215 | A4GALT,CYB5R3 | c.-49+27346G>T (n.-49+27346G>T) c.501G>T (p.Glu167Asp) | gnomAD v4 |
| 22 | g.42693451C= | CA2406870305 | A4GALT,CYB5R3 | c.-49+27346G= (n.-49+27346G=) c.501G= (p.Glu167=) | |
| 22 | g.42693451C>G | CA411812216 | A4GALT,CYB5R3 | c.-49+27346G>C (n.-49+27346G>C) c.501G>C (p.Glu167Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693451C>T | CA10270284 | A4GALT,CYB5R3 | c.-49+27346G>A (n.-49+27346G>A) c.501G>A (p.Glu167=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693452T>A | CA411812217 | A4GALT,CYB5R3 | c.-49+27345A>T (n.-49+27345A>T) c.500A>T (p.Glu167Val) | |
| 22 | g.42693452T>C | CA411812218 | A4GALT,CYB5R3 | c.-49+27345A>G (n.-49+27345A>G) c.500A>G (p.Glu167Gly) | |
| 22 | g.42693452T>G | CA411812219 | A4GALT,CYB5R3 | c.-49+27345A>C (n.-49+27345A>C) c.500A>C (p.Glu167Ala) | |
| 22 | g.42693453C>A | CA411812222 | A4GALT,CYB5R3 | c.-49+27344G>T (n.-49+27344G>T) c.499G>T (p.Glu167Ter) | |
| 22 | g.42693453C>G | CA411812221 | A4GALT,CYB5R3 | c.-49+27344G>C (n.-49+27344G>C) c.499G>C (p.Glu167Gln) | |
| 22 | g.42693453C>T | CA411812220 | A4GALT,CYB5R3 | c.-49+27344G>A (n.-49+27344G>A) c.499G>A (p.Glu167Lys) | |
| 22 | g.42693454C>A | CA411812223 | A4GALT,CYB5R3 | c.-49+27343G>T (n.-49+27343G>T) c.498G>T (p.Trp166Cys) | |
| 22 | g.42693454C= | CA2406870306 | A4GALT,CYB5R3 | c.-49+27343G= (n.-49+27343G=) c.498G= (p.Trp166=) | |
| 22 | g.42693454C>G | CA411812224 | A4GALT,CYB5R3 | c.-49+27343G>C (n.-49+27343G>C) c.498G>C (p.Trp166Cys) | |
| 22 | g.42693454C>T | CA411812225 | A4GALT,CYB5R3 | c.-49+27343G>A (n.-49+27343G>A) c.498G>A (p.Trp166Ter) | dbSNP gnomAD v2 |
| 22 | g.42693455C>A | CA411812226 | A4GALT,CYB5R3 | c.-49+27342G>T (n.-49+27342G>T) c.497G>T (p.Trp166Leu) | |
| 22 | g.42693455C>G | CA411812227 | A4GALT,CYB5R3 | c.-49+27342G>C (n.-49+27342G>C) c.497G>C (p.Trp166Ser) | |
| 22 | g.42693455C>T | CA411812228 | A4GALT,CYB5R3 | c.-49+27342G>A (n.-49+27342G>A) c.497G>A (p.Trp166Ter) | |
| 22 | g.42693456A>C | CA411812229 | A4GALT,CYB5R3 | c.-49+27341T>G (n.-49+27341T>G) c.496T>G (p.Trp166Gly) | |
| 22 | g.42693456A>G | CA411812230 | A4GALT,CYB5R3 | c.-49+27341T>C (n.-49+27341T>C) c.496T>C (p.Trp166Arg) | gnomAD v4 |
| 22 | g.42693456A>T | CA411812231 | A4GALT,CYB5R3 | c.-49+27341T>A (n.-49+27341T>A) c.496T>A (p.Trp166Arg) | |
| 22 | g.42693456_42693469del | CA2657078349 | A4GALT,CYB5R3 | c.-49+27328_-49+27341del (n.-49+27328_-49+27341del) c.483_496del (p.Val162GlyfsTer?) | gnomAD v4 |
| 22 | g.42693457G>A | CA515070724 | A4GALT,CYB5R3 | c.-49+27340C>T (n.-49+27340C>T) c.495C>T (p.Arg165=) | |
| 22 | g.42693457G>C | CA515070727 | A4GALT,CYB5R3 | c.-49+27340C>G (n.-49+27340C>G) c.495C>G (p.Arg165=) | |
| 22 | g.42693457G>T | CA515070729 | A4GALT,CYB5R3 | c.-49+27340C>A (n.-49+27340C>A) c.495C>A (p.Arg165=) | |
| 22 | g.42693458C>A | CA411812232 | A4GALT,CYB5R3 | c.-49+27339G>T (n.-49+27339G>T) c.494G>T (p.Arg165Leu) | gnomAD v4 |
| 22 | g.42693458C= | CA2406870307 | A4GALT,CYB5R3 | c.-49+27339G= (n.-49+27339G=) c.494G= (p.Arg165=) | |
| 22 | g.42693458C>G | CA411812233 | A4GALT,CYB5R3 | c.-49+27339G>C (n.-49+27339G>C) c.494G>C (p.Arg165Pro) | |
| 22 | g.42693458C>T | CA10270285 | A4GALT,CYB5R3 | c.-49+27339G>A (n.-49+27339G>A) c.494G>A (p.Arg165His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693459G>A | CA411812235 | A4GALT,CYB5R3 | c.-49+27338C>T (n.-49+27338C>T) c.493C>T (p.Arg165Cys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 22 | g.42693459G>C | CA411812236 | A4GALT,CYB5R3 | c.-49+27338C>G (n.-49+27338C>G) c.493C>G (p.Arg165Gly) | gnomAD v4 |
| 22 | g.42693459G= | CA2406870308 | A4GALT,CYB5R3 | c.-49+27338C= (n.-49+27338C=) c.493C= (p.Arg165=) | |
| 22 | g.42693459G>T | CA411812234 | A4GALT,CYB5R3 | c.-49+27338C>A (n.-49+27338C>A) c.493C>A (p.Arg165Ser) | |
| 22 | g.42693460C>A | CA515070740 | A4GALT,CYB5R3 | c.-49+27337G>T (n.-49+27337G>T) c.492G>T (p.Gly164=) | dbSNP gnomAD v4 |
| 22 | g.42693460C= | CA2406870309 | A4GALT,CYB5R3 | c.-49+27337G= (n.-49+27337G=) c.492G= (p.Gly164=) | |
| 22 | g.42693460C>G | CA515070743 | A4GALT,CYB5R3 | c.-49+27337G>C (n.-49+27337G>C) c.492G>C (p.Gly164=) | gnomAD v4 |
| 22 | g.42693460C>T | CA515070746 | A4GALT,CYB5R3 | c.-49+27337G>A (n.-49+27337G>A) c.492G>A (p.Gly164=) | |
| 22 | g.42693461C>A | CA411812237 | A4GALT,CYB5R3 | c.-49+27336G>T (n.-49+27336G>T) c.491G>T (p.Gly164Val) | |
| 22 | g.42693461C= | CA2406870310 | A4GALT,CYB5R3 | c.-49+27336G= (n.-49+27336G=) c.491G= (p.Gly164=) | |
| 22 | g.42693461C>G | CA411812238 | A4GALT,CYB5R3 | c.-49+27336G>C (n.-49+27336G>C) c.491G>C (p.Gly164Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693461C>T | CA411812239 | A4GALT,CYB5R3 | c.-49+27336G>A (n.-49+27336G>A) c.491G>A (p.Gly164Glu) | |
| 22 | g.42693462C>A | CA411812240 | A4GALT,CYB5R3 | c.-49+27335G>T (n.-49+27335G>T) c.490G>T (p.Gly164Trp) | |
| 22 | g.42693462C>G | CA411812241 | A4GALT,CYB5R3 | c.-49+27335G>C (n.-49+27335G>C) c.490G>C (p.Gly164Arg) | |
| 22 | g.42693462C>T | CA411812242 | A4GALT,CYB5R3 | c.-49+27335G>A (n.-49+27335G>A) c.490G>A (p.Gly164Arg) | |
| 22 | g.42693463C>A | CA411812243 | A4GALT,CYB5R3 | c.-49+27334G>T (n.-49+27334G>T) c.489G>T (p.Gln163His) | |
| 22 | g.42693463C= | CA2406870311 | A4GALT,CYB5R3 | c.-49+27334G= (n.-49+27334G=) c.489G= (p.Gln163=) | |
| 22 | g.42693463C>G | CA411812244 | A4GALT,CYB5R3 | c.-49+27334G>C (n.-49+27334G>C) c.489G>C (p.Gln163His) | |
| 22 | g.42693463C>T | CA515070756 | A4GALT,CYB5R3 | c.-49+27334G>A (n.-49+27334G>A) c.489G>A (p.Gln163=) | dbSNP |
| 22 | g.42693464T>A | CA411812245 | A4GALT,CYB5R3 | c.-49+27333A>T (n.-49+27333A>T) c.488A>T (p.Gln163Leu) | |
| 22 | g.42693464T>C | CA10270286 | A4GALT,CYB5R3 | c.-49+27333A>G (n.-49+27333A>G) c.488A>G (p.Gln163Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693464T>G | CA411812246 | A4GALT,CYB5R3 | c.-49+27333A>C (n.-49+27333A>C) c.488A>C (p.Gln163Pro) | |
| 22 | g.42693464T= | CA2406870312 | A4GALT,CYB5R3 | c.-49+27333A= (n.-49+27333A=) c.488A= (p.Gln163=) | |
| 22 | g.42693465G>A | CA411812247 | A4GALT,CYB5R3 | c.-49+27332C>T (n.-49+27332C>T) c.487C>T (p.Gln163Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693465G>C | CA411812248 | A4GALT,CYB5R3 | c.-49+27332C>G (n.-49+27332C>G) c.487C>G (p.Gln163Glu) | |
| 22 | g.42693465G= | CA2406870313 | A4GALT,CYB5R3 | c.-49+27332C= (n.-49+27332C=) c.487C= (p.Gln163=) | |
| 22 | g.42693465G>T | CA411812249 | A4GALT,CYB5R3 | c.-49+27332C>A (n.-49+27332C>A) c.487C>A (p.Gln163Lys) | |
| 22 | g.42693466C>A | CA515070769 | A4GALT,CYB5R3 | c.-49+27331G>T (n.-49+27331G>T) c.486G>T (p.Val162=) | |
| 22 | g.42693466C= | CA2406870314 | A4GALT,CYB5R3 | c.-49+27331G= (n.-49+27331G=) c.486G= (p.Val162=) | |
| 22 | g.42693466C>G | CA515070771 | A4GALT,CYB5R3 | c.-49+27331G>C (n.-49+27331G>C) c.486G>C (p.Val162=) | gnomAD v4 |
| 22 | g.42693466C>T | CA10270287 | A4GALT,CYB5R3 | c.-49+27331G>A (n.-49+27331G>A) c.486G>A (p.Val162=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693467A>C | CA411812251 | A4GALT,CYB5R3 | c.-49+27330T>G (n.-49+27330T>G) c.485T>G (p.Val162Gly) | |
| 22 | g.42693467A>G | CA411812250 | A4GALT,CYB5R3 | c.-49+27330T>C (n.-49+27330T>C) c.485T>C (p.Val162Ala) | gnomAD v4 |
| 22 | g.42693467A>T | CA411812252 | A4GALT,CYB5R3 | c.-49+27330T>A (n.-49+27330T>A) c.485T>A (p.Val162Glu) | |
| 22 | g.42693468C>A | CA411812253 | A4GALT,CYB5R3 | c.-49+27329G>T (n.-49+27329G>T) c.484G>T (p.Val162Leu) | |
| 22 | g.42693468C= | CA2406870315 | A4GALT,CYB5R3 | c.-49+27329G= (n.-49+27329G=) c.484G= (p.Val162=) | |
| 22 | g.42693468C>G | CA411812255 | A4GALT,CYB5R3 | c.-49+27329G>C (n.-49+27329G>C) c.484G>C (p.Val162Leu) | |
| 22 | g.42693468C>T | CA411812254 | A4GALT,CYB5R3 | c.-49+27329G>A (n.-49+27329G>A) c.484G>A (p.Val162Met) | dbSNP gnomAD v4 COSMIC |
| 22 | g.42693469G>A | CA10270289 | A4GALT,CYB5R3 | c.-49+27328C>T (n.-49+27328C>T) c.483C>T (p.Ala161=) | dbSNP ExAC gnomAD v4 |
| 22 | g.42693469G>C | CA10270288 | A4GALT,CYB5R3 | c.-49+27328C>G (n.-49+27328C>G) c.483C>G (p.Ala161=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693469G= | CA2406870316 | A4GALT,CYB5R3 | c.-49+27328C= (n.-49+27328C=) c.483C= (p.Ala161=) | |
| 22 | g.42693469G>T | CA515070788 | A4GALT,CYB5R3 | c.-49+27328C>A (n.-49+27328C>A) c.483C>A (p.Ala161=) | gnomAD v4 |
| 22 | g.42693470G>A | CA411812256 | A4GALT,CYB5R3 | c.-49+27327C>T (n.-49+27327C>T) c.482C>T (p.Ala161Val) | dbSNP |
| 22 | g.42693470G>C | CA411812257 | A4GALT,CYB5R3 | c.-49+27327C>G (n.-49+27327C>G) c.482C>G (p.Ala161Gly) | |
| 22 | g.42693470G= | CA2406870317 | A4GALT,CYB5R3 | c.-49+27327C= (n.-49+27327C=) c.482C= (p.Ala161=) | |
| 22 | g.42693470G>T | CA411812258 | A4GALT,CYB5R3 | c.-49+27327C>A (n.-49+27327C>A) c.482C>A (p.Ala161Asp) | |
| 22 | g.42693471C>A | CA411812259 | A4GALT,CYB5R3 | c.-49+27326G>T (n.-49+27326G>T) c.481G>T (p.Ala161Ser) | |
| 22 | g.42693471C= | CA2406870318 | A4GALT,CYB5R3 | c.-49+27326G= (n.-49+27326G=) c.481G= (p.Ala161=) | |
| 22 | g.42693471C>G | CA411812260 | A4GALT,CYB5R3 | c.-49+27326G>C (n.-49+27326G>C) c.481G>C (p.Ala161Pro) | |
| 22 | g.42693471C>T | CA10270290 | A4GALT,CYB5R3 | c.-49+27326G>A (n.-49+27326G>A) c.481G>A (p.Ala161Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693471_42693473delinsCCG | CA2406870319 | A4GALT,CYB5R3 | c.-49+27324_-49+27326delinsCGG (n.-49+27324_-49+27326delinsCGG) c.479_481delinsCGG (p.Ala160=) | |
| 22 | g.42693472C>A | CA515070800 | A4GALT,CYB5R3 | c.-49+27325G>T (n.-49+27325G>T) c.480G>T (p.Ala160=) | |
| 22 | g.42693472C= | CA2406870320 | A4GALT,CYB5R3 | c.-49+27325G= (n.-49+27325G=) c.480G= (p.Ala160=) | |
| 22 | g.42693472C>G | CA515070804 | A4GALT,CYB5R3 | c.-49+27325G>C (n.-49+27325G>C) c.480G>C (p.Ala160=) | |
| 22 | g.42693472C>T | CA10270291 | A4GALT,CYB5R3 | c.-49+27325G>A (n.-49+27325G>A) c.480G>A (p.Ala160=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693474_42693475del | CA753383870 | A4GALT,CYB5R3 | c.-49+27324_-49+27325del (n.-49+27324_-49+27325del) c.479_480del (p.Ala160GlyfsTer?) | dbSNP |
| 22 | g.42693473G>A | CA10270292 | A4GALT,CYB5R3 | c.-49+27324C>T (n.-49+27324C>T) c.479C>T (p.Ala160Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693473G>C | CA411812261 | A4GALT,CYB5R3 | c.-49+27324C>G (n.-49+27324C>G) c.479C>G (p.Ala160Gly) | |
| 22 | g.42693473G= | CA2406870321 | A4GALT,CYB5R3 | c.-49+27324C= (n.-49+27324C=) c.479C= (p.Ala160=) | |
| 22 | g.42693473G>T | CA411812262 | A4GALT,CYB5R3 | c.-49+27324C>A (n.-49+27324C>A) c.479C>A (p.Ala160Glu) | |
| 22 | g.42693473_42693475dup | CA2577739309 | A4GALT,CYB5R3 | c.-49+27322_-49+27324dup (n.-49+27322_-49+27324dup) c.477_479dup (p.Ala160_Ala161insAla) | |
| 22 | g.42693474C>A | CA10270294 | A4GALT,CYB5R3 | c.-49+27323G>T (n.-49+27323G>T) c.478G>T (p.Ala160Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693474C= | CA2406870322 | A4GALT,CYB5R3 | c.-49+27323G= (n.-49+27323G=) c.478G= (p.Ala160=) | |
| 22 | g.42693474C>G | CA411812263 | A4GALT,CYB5R3 | c.-49+27323G>C (n.-49+27323G>C) c.478G>C (p.Ala160Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693474C>T | CA10270293 | A4GALT,CYB5R3 | c.-49+27323G>A (n.-49+27323G>A) c.478G>A (p.Ala160Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693475G>A | CA10270295 | A4GALT,CYB5R3 | c.-49+27322C>T (n.-49+27322C>T) c.477C>T (p.Tyr159=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693475G>C | CA411812264 | A4GALT,CYB5R3 | c.-49+27322C>G (n.-49+27322C>G) c.477C>G (p.Tyr159Ter) | gnomAD v4 |
| 22 | g.42693475G= | CA2406870323 | A4GALT,CYB5R3 | c.-49+27322C= (n.-49+27322C=) c.477C= (p.Tyr159=) | |
| 22 | g.42693475G>T | CA411812265 | A4GALT,CYB5R3 | c.-49+27322C>A (n.-49+27322C>A) c.477C>A (p.Tyr159Ter) | |
| 22 | g.42693476T>A | CA411812266 | A4GALT,CYB5R3 | c.-49+27321A>T (n.-49+27321A>T) c.476A>T (p.Tyr159Phe) | |
| 22 | g.42693476T>C | CA324732353 | A4GALT,CYB5R3 | c.-49+27321A>G (n.-49+27321A>G) c.476A>G (p.Tyr159Cys) | dbSNP |
| 22 | g.42693476T>G | CA411812267 | A4GALT,CYB5R3 | c.-49+27321A>C (n.-49+27321A>C) c.476A>C (p.Tyr159Ser) | |
| 22 | g.42693476T= | CA2406870324 | A4GALT,CYB5R3 | c.-49+27321A= (n.-49+27321A=) c.476A= (p.Tyr159=) | |
| 22 | g.42693477A>C | CA411812268 | A4GALT,CYB5R3 | c.-49+27320T>G (n.-49+27320T>G) c.475T>G (p.Tyr159Asp) | |
| 22 | g.42693477A>G | CA411812269 | A4GALT,CYB5R3 | c.-49+27320T>C (n.-49+27320T>C) c.475T>C (p.Tyr159His) | |
| 22 | g.42693477A>T | CA411812270 | A4GALT,CYB5R3 | c.-49+27320T>A (n.-49+27320T>A) c.475T>A (p.Tyr159Asn) | |
| 22 | g.42693478C>A | CA411812272 | A4GALT,CYB5R3 | c.-49+27319G>T (n.-49+27319G>T) c.474G>T (p.Trp158Cys) | |
| 22 | g.42693478C= | CA2406870325 | A4GALT,CYB5R3 | c.-49+27319G= (n.-49+27319G=) c.474G= (p.Trp158=) | |
| 22 | g.42693478C>G | CA411812273 | A4GALT,CYB5R3 | c.-49+27319G>C (n.-49+27319G>C) c.474G>C (p.Trp158Cys) | |
| 22 | g.42693478C>T | CA411812271 | A4GALT,CYB5R3 | c.-49+27319G>A (n.-49+27319G>A) c.474G>A (p.Trp158Ter) | dbSNP gnomAD v4 |
| 22 | g.42693479C>A | CA411812274 | A4GALT,CYB5R3 | c.-49+27318G>T (n.-49+27318G>T) c.473G>T (p.Trp158Leu) | |
| 22 | g.42693479C>G | CA411812275 | A4GALT,CYB5R3 | c.-49+27318G>C (n.-49+27318G>C) c.473G>C (p.Trp158Ser) | |
| 22 | g.42693479C>T | CA411812276 | A4GALT,CYB5R3 | c.-49+27318G>A (n.-49+27318G>A) c.473G>A (p.Trp158Ter) | |
| 22 | g.42693479_42693480del | CA2657078489 | A4GALT,CYB5R3 | c.-49+27317_-49+27318del (n.-49+27317_-49+27318del) c.472_473del (p.Trp158ValfsTer?) | gnomAD v4 |
| 22 | g.42693480A>C | CA411812277 | A4GALT,CYB5R3 | c.-49+27317T>G (n.-49+27317T>G) c.472T>G (p.Trp158Gly) | |
| 22 | g.42693480A>G | CA411812278 | A4GALT,CYB5R3 | c.-49+27317T>C (n.-49+27317T>C) c.472T>C (p.Trp158Arg) | |
| 22 | g.42693480A>T | CA411812279 | A4GALT,CYB5R3 | c.-49+27317T>A (n.-49+27317T>A) c.472T>A (p.Trp158Arg) | |
| 22 | g.42693481G>A | CA515070847 | A4GALT,CYB5R3 | c.-49+27316C>T (n.-49+27316C>T) c.471C>T (p.Asp157=) | |
| 22 | g.42693481G>C | CA411812281 | A4GALT,CYB5R3 | c.-49+27316C>G (n.-49+27316C>G) c.471C>G (p.Asp157Glu) | |
| 22 | g.42693481G>T | CA411812280 | A4GALT,CYB5R3 | c.-49+27316C>A (n.-49+27316C>A) c.471C>A (p.Asp157Glu) | |
| 22 | g.42693482_42693484dup | CA2657078491 | A4GALT,CYB5R3 | c.-49+27314_-49+27316dup (n.-49+27314_-49+27316dup) c.469_471dup (p.Asp157_Trp158insAsp) | gnomAD v4 |
| 22 | g.42693482del | CA2657078495 | A4GALT,CYB5R3 | c.-49+27315del (n.-49+27315del) c.470del (p.Asp157AlafsTer?) | gnomAD v4 |
| 22 | g.42693482T>A | CA411812282 | A4GALT,CYB5R3 | c.-49+27315A>T (n.-49+27315A>T) c.470A>T (p.Asp157Val) | |
| 22 | g.42693482T>C | CA10270296 | A4GALT,CYB5R3 | c.-49+27315A>G (n.-49+27315A>G) c.470A>G (p.Asp157Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693482T>G | CA411812283 | A4GALT,CYB5R3 | c.-49+27315A>C (n.-49+27315A>C) c.470A>C (p.Asp157Ala) | |
| 22 | g.42693482T= | CA2406870326 | A4GALT,CYB5R3 | c.-49+27315A= (n.-49+27315A=) c.470A= (p.Asp157=) | |
| 22 | g.42693483C>A | CA411812284 | A4GALT,CYB5R3 | c.-49+27314G>T (n.-49+27314G>T) c.469G>T (p.Asp157Tyr) | gnomAD v4 |
| 22 | g.42693483C= | CA2406870327 | A4GALT,CYB5R3 | c.-49+27314G= (n.-49+27314G=) c.469G= (p.Asp157=) | |
| 22 | g.42693483C>G | CA411812285 | A4GALT,CYB5R3 | c.-49+27314G>C (n.-49+27314G>C) c.469G>C (p.Asp157His) | |
| 22 | g.42693483C>T | CA411812286 | A4GALT,CYB5R3 | c.-49+27314G>A (n.-49+27314G>A) c.469G>A (p.Asp157Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693486_42693525del | CA2657078501 | A4GALT,CYB5R3 | c.-49+27275_-49+27314del (n.-49+27275_-49+27314del) c.430_469del (p.Leu144ThrfsTer?) | gnomAD v4 |
| 22 | g.42693484G>A | CA515070869 | A4GALT,CYB5R3 | c.-49+27313C>T (n.-49+27313C>T) c.468C>T (p.Ala156=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693484G>C | CA515070871 | A4GALT,CYB5R3 | c.-49+27313C>G (n.-49+27313C>G) c.468C>G (p.Ala156=) | dbSNP |
| 22 | g.42693484G= | CA2406870329 | A4GALT,CYB5R3 | c.-49+27313C= (n.-49+27313C=) c.468C= (p.Ala156=) | |
| 22 | g.42693484G>T | CA515070878 | A4GALT,CYB5R3 | c.-49+27313C>A (n.-49+27313C>A) c.468C>A (p.Ala156=) | |
| 22 | g.42693485dup | CA2406870328 | A4GALT,CYB5R3 | c.-49+27313dup (n.-49+27313dup) c.468dup (p.Asp157ArgfsTer?) | dbSNP |
| 22 | g.42693485G>A | CA411812287 | A4GALT,CYB5R3 | c.-49+27312C>T (n.-49+27312C>T) c.467C>T (p.Ala156Val) | |
| 22 | g.42693485G>C | CA411812289 | A4GALT,CYB5R3 | c.-49+27312C>G (n.-49+27312C>G) c.467C>G (p.Ala156Gly) | |
| 22 | g.42693485G>T | CA411812288 | A4GALT,CYB5R3 | c.-49+27312C>A (n.-49+27312C>A) c.467C>A (p.Ala156Asp) | |
| 22 | g.42693486C>A | CA411812290 | A4GALT,CYB5R3 | c.-49+27311G>T (n.-49+27311G>T) c.466G>T (p.Ala156Ser) | |
| 22 | g.42693486C= | CA2406870330 | A4GALT,CYB5R3 | c.-49+27311G= (n.-49+27311G=) c.466G= (p.Ala156=) | |
| 22 | g.42693486C>G | CA411812291 | A4GALT,CYB5R3 | c.-49+27311G>C (n.-49+27311G>C) c.466G>C (p.Ala156Pro) | |
| 22 | g.42693486C>T | CA411812292 | A4GALT,CYB5R3 | c.-49+27311G>A (n.-49+27311G>A) c.466G>A (p.Ala156Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693487C>A | CA515070891 | A4GALT,CYB5R3 | c.-49+27310G>T (n.-49+27310G>T) c.465G>T (p.Leu155=) | |
| 22 | g.42693487C>G | CA515070896 | A4GALT,CYB5R3 | c.-49+27310G>C (n.-49+27310G>C) c.465G>C (p.Leu155=) | |
| 22 | g.42693487C>T | CA515070893 | A4GALT,CYB5R3 | c.-49+27310G>A (n.-49+27310G>A) c.465G>A (p.Leu155=) | |
| 22 | g.42693488del | CA2577739310 | A4GALT,CYB5R3 | c.-49+27309del (n.-49+27309del) c.464del (p.Leu155ArgfsTer?) | |
| 22 | g.42693488A>C | CA411812293 | A4GALT,CYB5R3 | c.-49+27309T>G (n.-49+27309T>G) c.464T>G (p.Leu155Arg) | COSMIC |
| 22 | g.42693488A>G | CA411812294 | A4GALT,CYB5R3 | c.-49+27309T>C (n.-49+27309T>C) c.464T>C (p.Leu155Pro) | |
| 22 | g.42693488A>T | CA411812295 | A4GALT,CYB5R3 | c.-49+27309T>A (n.-49+27309T>A) c.464T>A (p.Leu155Gln) | |
| 22 | g.42693489G>A | CA515070906 | A4GALT,CYB5R3 | c.-49+27308C>T (n.-49+27308C>T) c.463C>T (p.Leu155=) | |
| 22 | g.42693489G>C | CA411812296 | A4GALT,CYB5R3 | c.-49+27308C>G (n.-49+27308C>G) c.463C>G (p.Leu155Val) | |
| 22 | g.42693489G>T | CA411812297 | A4GALT,CYB5R3 | c.-49+27308C>A (n.-49+27308C>A) c.463C>A (p.Leu155Met) | |
| 22 | g.42693490G>A | CA515070911 | A4GALT,CYB5R3 | c.-49+27307C>T (n.-49+27307C>T) c.462C>T (p.Pro154=) | |
| 22 | g.42693490G>C | CA515070912 | A4GALT,CYB5R3 | c.-49+27307C>G (n.-49+27307C>G) c.462C>G (p.Pro154=) | |
| 22 | g.42693490G>T | CA515070914 | A4GALT,CYB5R3 | c.-49+27307C>A (n.-49+27307C>A) c.462C>A (p.Pro154=) | |
| 22 | g.42693491G>A | CA411812298 | A4GALT,CYB5R3 | c.-49+27306C>T (n.-49+27306C>T) c.461C>T (p.Pro154Leu) | |
| 22 | g.42693491G>C | CA411812299 | A4GALT,CYB5R3 | c.-49+27306C>G (n.-49+27306C>G) c.461C>G (p.Pro154Arg) | dbSNP |
| 22 | g.42693491G= | CA2406870331 | A4GALT,CYB5R3 | c.-49+27306C= (n.-49+27306C=) c.461C= (p.Pro154=) | |
| 22 | g.42693491G>T | CA411812300 | A4GALT,CYB5R3 | c.-49+27306C>A (n.-49+27306C>A) c.461C>A (p.Pro154His) | |
| 22 | g.42693492G>A | CA411812302 | A4GALT,CYB5R3 | c.-49+27305C>T (n.-49+27305C>T) c.460C>T (p.Pro154Ser) | |
| 22 | g.42693492G>C | CA10270297 | A4GALT,CYB5R3 | c.-49+27305C>G (n.-49+27305C>G) c.460C>G (p.Pro154Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693492G= | CA2406870332 | A4GALT,CYB5R3 | c.-49+27305C= (n.-49+27305C=) c.460C= (p.Pro154=) | |
| 22 | g.42693492G>T | CA411812301 | A4GALT,CYB5R3 | c.-49+27305C>A (n.-49+27305C>A) c.460C>A (p.Pro154Thr) | |
| 22 | g.42693493T>A | CA515070926 | A4GALT,CYB5R3 | c.-49+27304A>T (n.-49+27304A>T) c.459A>T (p.Thr153=) | |
| 22 | g.42693493T>C | CA515070927 | A4GALT,CYB5R3 | c.-49+27304A>G (n.-49+27304A>G) c.459A>G (p.Thr153=) | |
| 22 | g.42693493T>G | CA515070931 | A4GALT,CYB5R3 | c.-49+27304A>C (n.-49+27304A>C) c.459A>C (p.Thr153=) | |
| 22 | g.42693494G>A | CA411812303 | A4GALT,CYB5R3 | c.-49+27303C>T (n.-49+27303C>T) c.458C>T (p.Thr153Ile) | |
| 22 | g.42693494G>C | CA411812305 | A4GALT,CYB5R3 | c.-49+27303C>G (n.-49+27303C>G) c.458C>G (p.Thr153Arg) | |
| 22 | g.42693494G>T | CA411812304 | A4GALT,CYB5R3 | c.-49+27303C>A (n.-49+27303C>A) c.458C>A (p.Thr153Lys) | gnomAD v4 |
| 22 | g.42693495T>A | CA411812306 | A4GALT,CYB5R3 | c.-49+27302A>T (n.-49+27302A>T) c.457A>T (p.Thr153Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693495T>C | CA411812307 | A4GALT,CYB5R3 | c.-49+27302A>G (n.-49+27302A>G) c.457A>G (p.Thr153Ala) | |
| 22 | g.42693495T>G | CA411812308 | A4GALT,CYB5R3 | c.-49+27302A>C (n.-49+27302A>C) c.457A>C (p.Thr153Pro) | |
| 22 | g.42693495T= | CA2406870333 | A4GALT,CYB5R3 | c.-49+27302A= (n.-49+27302A=) c.457A= (p.Thr153=) | |
| 22 | g.42693496G>A | CA515070944 | A4GALT,CYB5R3 | c.-49+27301C>T (n.-49+27301C>T) c.456C>T (p.Asp152=) | ClinVar dbSNP gnomAD v4 |
| 22 | g.42693496G>C | CA411812309 | A4GALT,CYB5R3 | c.-49+27301C>G (n.-49+27301C>G) c.456C>G (p.Asp152Glu) | |
| 22 | g.42693496G= | CA2406870334 | A4GALT,CYB5R3 | c.-49+27301C= (n.-49+27301C=) c.456C= (p.Asp152=) | |
| 22 | g.42693496G>T | CA411812310 | A4GALT,CYB5R3 | c.-49+27301C>A (n.-49+27301C>A) c.456C>A (p.Asp152Glu) | |
| 22 | g.42693497T>A | CA411812311 | A4GALT,CYB5R3 | c.-49+27300A>T (n.-49+27300A>T) c.455A>T (p.Asp152Val) | dbSNP |
| 22 | g.42693497T>C | CA324732359 | A4GALT,CYB5R3 | c.-49+27300A>G (n.-49+27300A>G) c.455A>G (p.Asp152Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693497T>G | CA411812312 | A4GALT,CYB5R3 | c.-49+27300A>C (n.-49+27300A>C) c.455A>C (p.Asp152Ala) | |
| 22 | g.42693497T= | CA2406870335 | A4GALT,CYB5R3 | c.-49+27300A= (n.-49+27300A=) c.455A= (p.Asp152=) | |
| 22 | g.42693498C>A | CA411812313 | A4GALT,CYB5R3 | c.-49+27299G>T (n.-49+27299G>T) c.454G>T (p.Asp152Tyr) | gnomAD v4 |
| 22 | g.42693498C>G | CA411812314 | A4GALT,CYB5R3 | c.-49+27299G>C (n.-49+27299G>C) c.454G>C (p.Asp152His) | |
| 22 | g.42693498C>T | CA411812315 | A4GALT,CYB5R3 | c.-49+27299G>A (n.-49+27299G>A) c.454G>A (p.Asp152Asn) | |
| 22 | g.42693499C>A | CA515070956 | A4GALT,CYB5R3 | c.-49+27298G>T (n.-49+27298G>T) c.453G>T (p.Arg151=) | |
| 22 | g.42693499C= | CA2406870336 | A4GALT,CYB5R3 | c.-49+27298G= (n.-49+27298G=) c.453G= (p.Arg151=) | |
| 22 | g.42693499C>G | CA515070958 | A4GALT,CYB5R3 | c.-49+27298G>C (n.-49+27298G>C) c.453G>C (p.Arg151=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693499C>T | CA515070959 | A4GALT,CYB5R3 | c.-49+27298G>A (n.-49+27298G>A) c.453G>A (p.Arg151=) | dbSNP |
| 22 | g.42693500C>A | CA411812317 | A4GALT,CYB5R3 | c.-49+27297G>T (n.-49+27297G>T) c.452G>T (p.Arg151Leu) | gnomAD v4 |
| 22 | g.42693500C= | CA2406870337 | A4GALT,CYB5R3 | c.-49+27297G= (n.-49+27297G=) c.452G= (p.Arg151=) | |
| 22 | g.42693500C>G | CA411812316 | A4GALT,CYB5R3 | c.-49+27297G>C (n.-49+27297G>C) c.452G>C (p.Arg151Pro) | |
| 22 | g.42693500C>T | CA10270298 | A4GALT,CYB5R3 | c.-49+27297G>A (n.-49+27297G>A) c.452G>A (p.Arg151Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.42693501G>A | CA10270299 | A4GALT,CYB5R3 | c.-49+27296C>T (n.-49+27296C>T) c.451C>T (p.Arg151Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693501G>C | CA411812318 | A4GALT,CYB5R3 | c.-49+27296C>G (n.-49+27296C>G) c.451C>G (p.Arg151Gly) | |
| 22 | g.42693501G= | CA2406870338 | A4GALT,CYB5R3 | c.-49+27296C= (n.-49+27296C=) c.451C= (p.Arg151=) | |
| 22 | g.42693501G>T | CA515070965 | A4GALT,CYB5R3 | c.-49+27296C>A (n.-49+27296C>A) c.451C>A (p.Arg151=) | |
| 22 | g.42693502G>A | CA515070969 | A4GALT,CYB5R3 | c.-49+27295C>T (n.-49+27295C>T) c.450C>T (p.Phe150=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693502G>C | CA411812319 | A4GALT,CYB5R3 | c.-49+27295C>G (n.-49+27295C>G) c.450C>G (p.Phe150Leu) | |
| 22 | g.42693502G= | CA2406870339 | A4GALT,CYB5R3 | c.-49+27295C= (n.-49+27295C=) c.450C= (p.Phe150=) | |
| 22 | g.42693502G>T | CA411812320 | A4GALT,CYB5R3 | c.-49+27295C>A (n.-49+27295C>A) c.450C>A (p.Phe150Leu) | gnomAD v4 |
| 22 | g.42693503A>C | CA411812321 | A4GALT,CYB5R3 | c.-49+27294T>G (n.-49+27294T>G) c.449T>G (p.Phe150Cys) | |
| 22 | g.42693503A>G | CA411812322 | A4GALT,CYB5R3 | c.-49+27294T>C (n.-49+27294T>C) c.449T>C (p.Phe150Ser) | |
| 22 | g.42693503A>T | CA411812323 | A4GALT,CYB5R3 | c.-49+27294T>A (n.-49+27294T>A) c.449T>A (p.Phe150Tyr) | |
| 22 | g.42693504A= | CA2406870340 | A4GALT,CYB5R3 | c.-49+27293T= (n.-49+27293T=) c.448T= (p.Phe150=) | |
| 22 | g.42693504A>C | CA411812324 | A4GALT,CYB5R3 | c.-49+27293T>G (n.-49+27293T>G) c.448T>G (p.Phe150Val) | |
| 22 | g.42693504A>G | CA411812325 | A4GALT,CYB5R3 | c.-49+27293T>C (n.-49+27293T>C) c.448T>C (p.Phe150Leu) | dbSNP |
| 22 | g.42693504A>T | CA411812326 | A4GALT,CYB5R3 | c.-49+27293T>A (n.-49+27293T>A) c.448T>A (p.Phe150Ile) | |
| 22 | g.42693505C>A | CA515070987 | A4GALT,CYB5R3 | c.-49+27292G>T (n.-49+27292G>T) c.447G>T (p.Leu149=) | gnomAD v4 |
| 22 | g.42693505C>G | CA515070988 | A4GALT,CYB5R3 | c.-49+27292G>C (n.-49+27292G>C) c.447G>C (p.Leu149=) | gnomAD v4 |
| 22 | g.42693505C>T | CA515070991 | A4GALT,CYB5R3 | c.-49+27292G>A (n.-49+27292G>A) c.447G>A (p.Leu149=) | |
| 22 | g.42693506A>C | CA411812327 | A4GALT,CYB5R3 | c.-49+27291T>G (n.-49+27291T>G) c.446T>G (p.Leu149Arg) | |
| 22 | g.42693506A>G | CA411812328 | A4GALT,CYB5R3 | c.-49+27291T>C (n.-49+27291T>C) c.446T>C (p.Leu149Pro) | |
| 22 | g.42693506A>T | CA411812329 | A4GALT,CYB5R3 | c.-49+27291T>A (n.-49+27291T>A) c.446T>A (p.Leu149Gln) | |
| 22 | g.42693507G>A | CA515070998 | A4GALT,CYB5R3 | c.-49+27290C>T (n.-49+27290C>T) c.445C>T (p.Leu149=) | COSMIC |
| 22 | g.42693507G>C | CA411812330 | A4GALT,CYB5R3 | c.-49+27290C>G (n.-49+27290C>G) c.445C>G (p.Leu149Val) | |
| 22 | g.42693507G>T | CA411812331 | A4GALT,CYB5R3 | c.-49+27290C>A (n.-49+27290C>A) c.445C>A (p.Leu149Met) | |
| 22 | g.42693508C>A | CA411812332 | A4GALT,CYB5R3 | c.-49+27289G>T (n.-49+27289G>T) c.444G>T (p.Glu148Asp) | |
| 22 | g.42693508C= | CA2406870341 | A4GALT,CYB5R3 | c.-49+27289G= (n.-49+27289G=) c.444G= (p.Glu148=) | |
| 22 | g.42693508C>G | CA411812333 | A4GALT,CYB5R3 | c.-49+27289G>C (n.-49+27289G>C) c.444G>C (p.Glu148Asp) | |
| 22 | g.42693508C>T | CA10270300 | A4GALT,CYB5R3 | c.-49+27289G>A (n.-49+27289G>A) c.444G>A (p.Glu148=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693509T>A | CA411812334 | A4GALT,CYB5R3 | c.-49+27288A>T (n.-49+27288A>T) c.443A>T (p.Glu148Val) | |
| 22 | g.42693509T>C | CA411812335 | A4GALT,CYB5R3 | c.-49+27288A>G (n.-49+27288A>G) c.443A>G (p.Glu148Gly) | |
| 22 | g.42693509T>G | CA411812336 | A4GALT,CYB5R3 | c.-49+27288A>C (n.-49+27288A>C) c.443A>C (p.Glu148Ala) | COSMIC |
| 22 | g.42693509_42693515del | CA2657078551 | A4GALT,CYB5R3 | c.-49+27282_-49+27288del (n.-49+27282_-49+27288del) c.437_443del (p.Leu146ArgfsTer?) | gnomAD v4 |
| 22 | g.42693510C>A | CA411812337 | A4GALT,CYB5R3 | c.-49+27287G>T (n.-49+27287G>T) c.442G>T (p.Glu148Ter) | |
| 22 | g.42693510C>G | CA411812338 | A4GALT,CYB5R3 | c.-49+27287G>C (n.-49+27287G>C) c.442G>C (p.Glu148Gln) | |
| 22 | g.42693510C>T | CA411812339 | A4GALT,CYB5R3 | c.-49+27287G>A (n.-49+27287G>A) c.442G>A (p.Glu148Lys) | gnomAD v4 |
| 22 | g.42693511C>A | CA515071012 | A4GALT,CYB5R3 | c.-49+27286G>T (n.-49+27286G>T) c.441G>T (p.Arg147=) | |
| 22 | g.42693511C= | CA2406870342 | A4GALT,CYB5R3 | c.-49+27286G= (n.-49+27286G=) c.441G= (p.Arg147=) | |
| 22 | g.42693511C>G | CA515071013 | A4GALT,CYB5R3 | c.-49+27286G>C (n.-49+27286G>C) c.441G>C (p.Arg147=) | |
| 22 | g.42693511C>T | CA10270301 | A4GALT,CYB5R3 | c.-49+27286G>A (n.-49+27286G>A) c.441G>A (p.Arg147=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693512C>A | CA411812340 | A4GALT,CYB5R3 | c.-49+27285G>T (n.-49+27285G>T) c.440G>T (p.Arg147Leu) | |
| 22 | g.42693512C= | CA2406870343 | A4GALT,CYB5R3 | c.-49+27285G= (n.-49+27285G=) c.440G= (p.Arg147=) | |
| 22 | g.42693512C>G | CA411812341 | A4GALT,CYB5R3 | c.-49+27285G>C (n.-49+27285G>C) c.440G>C (p.Arg147Pro) | |
| 22 | g.42693512C>T | CA10270302 | A4GALT,CYB5R3 | c.-49+27285G>A (n.-49+27285G>A) c.440G>A (p.Arg147Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693513G>A | CA10270303 | A4GALT,CYB5R3 | c.-49+27284C>T (n.-49+27284C>T) c.439C>T (p.Arg147Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.42693513G>C | CA411812342 | A4GALT,CYB5R3 | c.-49+27284C>G (n.-49+27284C>G) c.439C>G (p.Arg147Gly) | |
| 22 | g.42693513G= | CA2406870344 | A4GALT,CYB5R3 | c.-49+27284C= (n.-49+27284C=) c.439C= (p.Arg147=) | |
| 22 | g.42693513G>T | CA10270304 | A4GALT,CYB5R3 | c.-49+27284C>A (n.-49+27284C>A) c.439C>A (p.Arg147=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693516_42693530del | CA2657078617 | A4GALT,CYB5R3 | c.-49+27270_-49+27284del (n.-49+27270_-49+27284del) c.425_439del (p.Leu142_Leu146del) | gnomAD v4 |
| 22 | g.42693514C>A | CA515071026 | A4GALT,CYB5R3 | c.-49+27283G>T (n.-49+27283G>T) c.438G>T (p.Leu146=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693514C= | CA2406870345 | A4GALT,CYB5R3 | c.-49+27283G= (n.-49+27283G=) c.438G= (p.Leu146=) | |
| 22 | g.42693514C>G | CA515071029 | A4GALT,CYB5R3 | c.-49+27283G>C (n.-49+27283G>C) c.438G>C (p.Leu146=) | dbSNP |
| 22 | g.42693514C>T | CA515071036 | A4GALT,CYB5R3 | c.-49+27283G>A (n.-49+27283G>A) c.438G>A (p.Leu146=) | |
| 22 | g.42693515A>C | CA411812343 | A4GALT,CYB5R3 | c.-49+27282T>G (n.-49+27282T>G) c.437T>G (p.Leu146Arg) | |
| 22 | g.42693515A>G | CA411812344 | A4GALT,CYB5R3 | c.-49+27282T>C (n.-49+27282T>C) c.437T>C (p.Leu146Pro) | |
| 22 | g.42693515A>T | CA411812345 | A4GALT,CYB5R3 | c.-49+27282T>A (n.-49+27282T>A) c.437T>A (p.Leu146Gln) | |
| 22 | g.42693516G>A | CA10270306 | A4GALT,CYB5R3 | c.-49+27281C>T (n.-49+27281C>T) c.436C>T (p.Leu146=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693516G>C | CA10270305 | A4GALT,CYB5R3 | c.-49+27281C>G (n.-49+27281C>G) c.436C>G (p.Leu146Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693516G= | CA2406870346 | A4GALT,CYB5R3 | c.-49+27281C= (n.-49+27281C=) c.436C= (p.Leu146=) | |
| 22 | g.42693516G>T | CA411812346 | A4GALT,CYB5R3 | c.-49+27281C>A (n.-49+27281C>A) c.436C>A (p.Leu146Met) | |
| 22 | g.42693517G>A | CA10270307 | A4GALT,CYB5R3 | c.-49+27280C>T (n.-49+27280C>T) c.435C>T (p.Asp145=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693517G>C | CA10270308 | A4GALT,CYB5R3 | c.-49+27280C>G (n.-49+27280C>G) c.435C>G (p.Asp145Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693517G= | CA2406870347 | A4GALT,CYB5R3 | c.-49+27280C= (n.-49+27280C=) c.435C= (p.Asp145=) | |
| 22 | g.42693517G>T | CA411812347 | A4GALT,CYB5R3 | c.-49+27280C>A (n.-49+27280C>A) c.435C>A (p.Asp145Glu) | dbSNP gnomAD v4 |
| 22 | g.42693518T>A | CA411812348 | A4GALT,CYB5R3 | c.-49+27279A>T (n.-49+27279A>T) c.434A>T (p.Asp145Val) | |
| 22 | g.42693518T>C | CA411812349 | A4GALT,CYB5R3 | c.-49+27279A>G (n.-49+27279A>G) c.434A>G (p.Asp145Gly) | gnomAD v4 |
| 22 | g.42693518T>G | CA411812350 | A4GALT,CYB5R3 | c.-49+27279A>C (n.-49+27279A>C) c.434A>C (p.Asp145Ala) | |
| 22 | g.42693518_42693527del | CA2657078650 | A4GALT,CYB5R3 | c.-49+27270_-49+27279del (n.-49+27270_-49+27279del) c.425_434del (p.Leu142ProfsTer?) | gnomAD v4 |
| 22 | g.42693519C>A | CA411812352 | A4GALT,CYB5R3 | c.-49+27278G>T (n.-49+27278G>T) c.433G>T (p.Asp145Tyr) | |
| 22 | g.42693519C= | CA2406870348 | A4GALT,CYB5R3 | c.-49+27278G= (n.-49+27278G=) c.433G= (p.Asp145=) | |
| 22 | g.42693519C>G | CA411812353 | A4GALT,CYB5R3 | c.-49+27278G>C (n.-49+27278G>C) c.433G>C (p.Asp145His) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693519C>T | CA411812351 | A4GALT,CYB5R3 | c.-49+27278G>A (n.-49+27278G>A) c.433G>A (p.Asp145Asn) | |
| 22 | g.42693520C>A | CA515071066 | A4GALT,CYB5R3 | c.-49+27277G>T (n.-49+27277G>T) c.432G>T (p.Leu144=) | |
| 22 | g.42693520C= | CA2406870349 | A4GALT,CYB5R3 | c.-49+27277G= (n.-49+27277G=) c.432G= (p.Leu144=) | |
| 22 | g.42693520C>G | CA515071068 | A4GALT,CYB5R3 | c.-49+27277G>C (n.-49+27277G>C) c.432G>C (p.Leu144=) | dbSNP |
| 22 | g.42693520C>T | CA10270309 | A4GALT,CYB5R3 | c.-49+27277G>A (n.-49+27277G>A) c.432G>A (p.Leu144=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693521A>C | CA411812354 | A4GALT,CYB5R3 | c.-49+27276T>G (n.-49+27276T>G) c.431T>G (p.Leu144Arg) | |
| 22 | g.42693521A>G | CA411812356 | A4GALT,CYB5R3 | c.-49+27276T>C (n.-49+27276T>C) c.431T>C (p.Leu144Pro) | |
| 22 | g.42693521A>T | CA411812355 | A4GALT,CYB5R3 | c.-49+27276T>A (n.-49+27276T>A) c.431T>A (p.Leu144Gln) | |
| 22 | g.42693522G>A | CA10270310 | A4GALT,CYB5R3 | c.-49+27275C>T (n.-49+27275C>T) c.430C>T (p.Leu144=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 22 | g.42693522G>C | CA411812358 | A4GALT,CYB5R3 | c.-49+27275C>G (n.-49+27275C>G) c.430C>G (p.Leu144Val) | |
| 22 | g.42693522G= | CA2406870350 | A4GALT,CYB5R3 | c.-49+27275C= (n.-49+27275C=) c.430C= (p.Leu144=) | |
| 22 | g.42693522G>T | CA411812357 | A4GALT,CYB5R3 | c.-49+27275C>A (n.-49+27275C>A) c.430C>A (p.Leu144Met) | |
| 22 | g.42693523C>A | CA515071089 | A4GALT,CYB5R3 | c.-49+27274G>T (n.-49+27274G>T) c.429G>T (p.Pro143=) | |
| 22 | g.42693523C= | CA2406870351 | A4GALT,CYB5R3 | c.-49+27274G= (n.-49+27274G=) c.429G= (p.Pro143=) | |
| 22 | g.42693523C>G | CA515071091 | A4GALT,CYB5R3 | c.-49+27274G>C (n.-49+27274G>C) c.429G>C (p.Pro143=) | |
| 22 | g.42693523C>T | CA515071094 | A4GALT,CYB5R3 | c.-49+27274G>A (n.-49+27274G>A) c.429G>A (p.Pro143=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693523_42693524insT | CA639829276 | A4GALT,CYB5R3 | c.-49+27273_-49+27274insA (n.-49+27273_-49+27274insA) c.428_429insA (p.Leu144AlafsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693524G>A | CA10270311 | A4GALT,CYB5R3 | c.-49+27273C>T (n.-49+27273C>T) c.428C>T (p.Pro143Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693524G>C | CA411812360 | A4GALT,CYB5R3 | c.-49+27273C>G (n.-49+27273C>G) c.428C>G (p.Pro143Arg) | |
| 22 | g.42693524G= | CA2406870352 | A4GALT,CYB5R3 | c.-49+27273C= (n.-49+27273C=) c.428C= (p.Pro143=) | |
| 22 | g.42693524G>T | CA411812359 | A4GALT,CYB5R3 | c.-49+27273C>A (n.-49+27273C>A) c.428C>A (p.Pro143Gln) | COSMIC |
| 22 | g.42693524_42693525insTTCCAGCA | CA639829277 | A4GALT,CYB5R3 | c.-49+27272_-49+27273insTGCTGGAA (n.-49+27272_-49+27273insTGCTGGAA) c.427_428insTGCTGGAA (p.Pro143LeufsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693525G>A | CA411812361 | A4GALT,CYB5R3 | c.-49+27272C>T (n.-49+27272C>T) c.427C>T (p.Pro143Ser) | |
| 22 | g.42693525G>C | CA411812362 | A4GALT,CYB5R3 | c.-49+27272C>G (n.-49+27272C>G) c.427C>G (p.Pro143Ala) | |
| 22 | g.42693525G>T | CA411812363 | A4GALT,CYB5R3 | c.-49+27272C>A (n.-49+27272C>A) c.427C>A (p.Pro143Thr) |