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.42692954_42692980delinsAGTGCCCTGGACGTGGCCTCGAACCGC | CA2406870042 | A4GALT,CYB5R3 | c.-49+27817_-49+27843delinsGCGGTTCGAGGCCACGTCCAGGGCACT (n.-49+27817_-49+27843delinsGCGGTTCGAGGCCACGTCCAGGGCACT) c.972_998delinsGCGGTTCGAGGCCACGTCCAGGGCACT (p.Thr324=) | |
| 22 | g.42692964_42692989del | CA10270164 | A4GALT,CYB5R3 | c.-49+27817_-49+27842del (n.-49+27817_-49+27842del) c.972_997del (p.Arg325AlafsTer?) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42692979G>A | CA10270173 | A4GALT,CYB5R3 | c.-49+27818C>T (n.-49+27818C>T) c.973C>T (p.Arg325Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 22 | g.42692979G>C | CA411810111 | A4GALT,CYB5R3 | c.-49+27818C>G (n.-49+27818C>G) c.973C>G (p.Arg325Gly) | |
| 22 | g.42692979G= | CA2406870055 | A4GALT,CYB5R3 | c.-49+27818C= (n.-49+27818C=) c.973C= (p.Arg325=) | |
| 22 | g.42692979G>T | CA515070501 | A4GALT,CYB5R3 | c.-49+27818C>A (n.-49+27818C>A) c.973C>A (p.Arg325=) | |
| 22 | g.42692980C>A | CA515070502 | A4GALT,CYB5R3 | c.-49+27817G>T (n.-49+27817G>T) c.972G>T (p.Thr324=) | gnomAD v4 |
| 22 | g.42692980C= | CA2406870056 | A4GALT,CYB5R3 | c.-49+27817G= (n.-49+27817G=) c.972G= (p.Thr324=) | |
| 22 | g.42692980C>G | CA515070503 | A4GALT,CYB5R3 | c.-49+27817G>C (n.-49+27817G>C) c.972G>C (p.Thr324=) | |
| 22 | g.42692980C>T | CA10270174 | A4GALT,CYB5R3 | c.-49+27817G>A (n.-49+27817G>A) c.972G>A (p.Thr324=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42692981G>A | CA10270175 | A4GALT,CYB5R3 | c.-49+27816C>T (n.-49+27816C>T) c.971C>T (p.Thr324Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42692981G>C | CA411810112 | A4GALT,CYB5R3 | c.-49+27816C>G (n.-49+27816C>G) c.971C>G (p.Thr324Arg) | |
| 22 | g.42692981G= | CA2406870057 | A4GALT,CYB5R3 | c.-49+27816C= (n.-49+27816C=) c.971C= (p.Thr324=) | |
| 22 | g.42692981G>T | CA411810113 | A4GALT,CYB5R3 | c.-49+27816C>A (n.-49+27816C>A) c.971C>A (p.Thr324Lys) | |
| 22 | g.42692982T>A | CA411810116 | A4GALT,CYB5R3 | c.-49+27815A>T (n.-49+27815A>T) c.970A>T (p.Thr324Ser) | |
| 22 | g.42692982T>C | CA411810115 | A4GALT,CYB5R3 | c.-49+27815A>G (n.-49+27815A>G) c.970A>G (p.Thr324Ala) | |
| 22 | g.42692982T>G | CA411810114 | A4GALT,CYB5R3 | c.-49+27815A>C (n.-49+27815A>C) c.970A>C (p.Thr324Pro) | |
| 22 | g.42692983G>A | CA324732098 | A4GALT,CYB5R3 | c.-49+27814C>T (n.-49+27814C>T) c.969C>T (p.Gly323=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42692983G>C | CA515070505 | A4GALT,CYB5R3 | c.-49+27814C>G (n.-49+27814C>G) c.969C>G (p.Gly323=) | |
| 22 | g.42692983G= | CA2406870058 | A4GALT,CYB5R3 | c.-49+27814C= (n.-49+27814C=) c.969C= (p.Gly323=) | |
| 22 | g.42692983G>T | CA515070504 | A4GALT,CYB5R3 | c.-49+27814C>A (n.-49+27814C>A) c.969C>A (p.Gly323=) | |
| 22 | g.42692984C>A | CA411810117 | A4GALT,CYB5R3 | c.-49+27813G>T (n.-49+27813G>T) c.968G>T (p.Gly323Val) | |
| 22 | g.42692984C>G | CA411810118 | A4GALT,CYB5R3 | c.-49+27813G>C (n.-49+27813G>C) c.968G>C (p.Gly323Ala) | |
| 22 | g.42692984C>T | CA411810119 | A4GALT,CYB5R3 | c.-49+27813G>A (n.-49+27813G>A) c.968G>A (p.Gly323Asp) | |
| 22 | g.42692985C>A | CA411810120 | A4GALT,CYB5R3 | c.-49+27812G>T (n.-49+27812G>T) c.967G>T (p.Gly323Cys) | |
| 22 | g.42692985C= | CA2406870059 | A4GALT,CYB5R3 | c.-49+27812G= (n.-49+27812G=) c.967G= (p.Gly323=) | |
| 22 | g.42692985C>G | CA411810121 | A4GALT,CYB5R3 | c.-49+27812G>C (n.-49+27812G>C) c.967G>C (p.Gly323Arg) | |
| 22 | g.42692985C>T | CA10270176 | A4GALT,CYB5R3 | c.-49+27812G>A (n.-49+27812G>A) c.967G>A (p.Gly323Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42692986C>A | CA411810122 | A4GALT,CYB5R3 | c.-49+27811G>T (n.-49+27811G>T) c.966G>T (p.Gln322His) | |
| 22 | g.42692986C>G | CA411810123 | A4GALT,CYB5R3 | c.-49+27811G>C (n.-49+27811G>C) c.966G>C (p.Gln322His) | COSMIC |
| 22 | g.42692986C>T | CA515070506 | A4GALT,CYB5R3 | c.-49+27811G>A (n.-49+27811G>A) c.966G>A (p.Gln322=) | |
| 22 | g.42692987T>A | CA411810124 | A4GALT,CYB5R3 | c.-49+27810A>T (n.-49+27810A>T) c.965A>T (p.Gln322Leu) | dbSNP |
| 22 | g.42692987T>C | CA411810125 | A4GALT,CYB5R3 | c.-49+27810A>G (n.-49+27810A>G) c.965A>G (p.Gln322Arg) | dbSNP |
| 22 | g.42692987T>G | CA411810126 | A4GALT,CYB5R3 | c.-49+27810A>C (n.-49+27810A>C) c.965A>C (p.Gln322Pro) | |
| 22 | g.42692987T= | CA2406870060 | A4GALT,CYB5R3 | c.-49+27810A= (n.-49+27810A=) c.965A= (p.Gln322=) | |
| 22 | g.42692987dup | CA2657079136 | A4GALT,CYB5R3 | c.-49+27810dup (n.-49+27810dup) c.965dup (p.Thr324HisfsTer?) | gnomAD v4 |
| 22 | g.42692988G>A | CA411810127 | A4GALT,CYB5R3 | c.-49+27809C>T (n.-49+27809C>T) c.964C>T (p.Gln322Ter) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 22 | g.42692988G>C | CA411810129 | A4GALT,CYB5R3 | c.-49+27809C>G (n.-49+27809C>G) c.964C>G (p.Gln322Glu) | |
| 22 | g.42692988G= | CA2406870061 | A4GALT,CYB5R3 | c.-49+27809C= (n.-49+27809C=) c.964C= (p.Gln322=) | |
| 22 | g.42692988G>T | CA411810128 | A4GALT,CYB5R3 | c.-49+27809C>A (n.-49+27809C>A) c.964C>A (p.Gln322Lys) | |
| 22 | g.42692989G>A | CA515070507 | A4GALT,CYB5R3 | c.-49+27808C>T (n.-49+27808C>T) c.963C>T (p.Ser321=) | COSMIC |
| 22 | g.42692989G>C | CA411810130 | A4GALT,CYB5R3 | c.-49+27808C>G (n.-49+27808C>G) c.963C>G (p.Ser321Arg) | |
| 22 | g.42692989G>T | CA411810131 | A4GALT,CYB5R3 | c.-49+27808C>A (n.-49+27808C>A) c.963C>A (p.Ser321Arg) | |
| 22 | g.42692990C>A | CA411810132 | A4GALT,CYB5R3 | c.-49+27807G>T (n.-49+27807G>T) c.962G>T (p.Ser321Ile) | gnomAD v4 |
| 22 | g.42692990C>G | CA411810134 | A4GALT,CYB5R3 | c.-49+27807G>C (n.-49+27807G>C) c.962G>C (p.Ser321Thr) | |
| 22 | g.42692990C>T | CA411810133 | A4GALT,CYB5R3 | c.-49+27807G>A (n.-49+27807G>A) c.962G>A (p.Ser321Asn) | gnomAD v3 gnomAD v4 |
| 22 | g.42692990_42692993delinsCTCT | CA2406870062 | A4GALT,CYB5R3 | c.-49+27804_-49+27807delinsAGAG (n.-49+27804_-49+27807delinsAGAG) c.959_962delinsAGAG (p.Lys320=) | |
| 22 | g.42692991T>A | CA411810135 | A4GALT,CYB5R3 | c.-49+27806A>T (n.-49+27806A>T) c.961A>T (p.Ser321Cys) | |
| 22 | g.42692991T>C | CA411810137 | A4GALT,CYB5R3 | c.-49+27806A>G (n.-49+27806A>G) c.961A>G (p.Ser321Gly) | |
| 22 | g.42692991T>G | CA411810136 | A4GALT,CYB5R3 | c.-49+27806A>C (n.-49+27806A>C) c.961A>C (p.Ser321Arg) | dbSNP gnomAD v4 |
| 22 | g.42692991T= | CA2406870063 | A4GALT,CYB5R3 | c.-49+27806A= (n.-49+27806A=) c.961A= (p.Ser321=) | |
| 22 | g.42692995_42692997del | CA753382650 | A4GALT,CYB5R3 | c.-49+27804_-49+27806del (n.-49+27804_-49+27806del) c.959_961del (p.Lys320del) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42692992C>A | CA411810138 | A4GALT,CYB5R3 | c.-49+27805G>T (n.-49+27805G>T) c.960G>T (p.Lys320Asn) | |
| 22 | g.42692992C>G | CA411810139 | A4GALT,CYB5R3 | c.-49+27805G>C (n.-49+27805G>C) c.960G>C (p.Lys320Asn) | |
| 22 | g.42692992C>T | CA515070508 | A4GALT,CYB5R3 | c.-49+27805G>A (n.-49+27805G>A) c.960G>A (p.Lys320=) | gnomAD v4 |
| 22 | g.42692993T>A | CA411810140 | A4GALT,CYB5R3 | c.-49+27804A>T (n.-49+27804A>T) c.959A>T (p.Lys320Met) | |
| 22 | g.42692993T>C | CA411810141 | A4GALT,CYB5R3 | c.-49+27804A>G (n.-49+27804A>G) c.959A>G (p.Lys320Arg) | |
| 22 | g.42692993T>G | CA411810142 | A4GALT,CYB5R3 | c.-49+27804A>C (n.-49+27804A>C) c.959A>C (p.Lys320Thr) | |
| 22 | g.42692994T>A | CA411810143 | A4GALT,CYB5R3 | c.-49+27803A>T (n.-49+27803A>T) c.958A>T (p.Lys320Ter) | |
| 22 | g.42692994T>C | CA411810144 | A4GALT,CYB5R3 | c.-49+27803A>G (n.-49+27803A>G) c.958A>G (p.Lys320Glu) | |
| 22 | g.42692994T>G | CA411810145 | A4GALT,CYB5R3 | c.-49+27803A>C (n.-49+27803A>C) c.958A>C (p.Lys320Gln) | |
| 22 | g.42692995C>A | CA411810146 | A4GALT,CYB5R3 | c.-49+27802G>T (n.-49+27802G>T) c.957G>T (p.Lys319Asn) | gnomAD v4 |
| 22 | g.42692995C= | CA2406870064 | A4GALT,CYB5R3 | c.-49+27802G= (n.-49+27802G=) c.957G= (p.Lys319=) | |
| 22 | g.42692995C>G | CA324732103 | A4GALT,CYB5R3 | c.-49+27802G>C (n.-49+27802G>C) c.957G>C (p.Lys319Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42692995C>T | CA515070509 | A4GALT,CYB5R3 | c.-49+27802G>A (n.-49+27802G>A) c.957G>A (p.Lys319=) | dbSNP gnomAD v4 |
| 22 | g.42692996T>A | CA411810155 | A4GALT,CYB5R3 | c.-49+27801A>T (n.-49+27801A>T) c.956A>T (p.Lys319Met) | |
| 22 | g.42692996T>C | CA411810153 | A4GALT,CYB5R3 | c.-49+27801A>G (n.-49+27801A>G) c.956A>G (p.Lys319Arg) | |
| 22 | g.42692996T>G | CA411810150 | A4GALT,CYB5R3 | c.-49+27801A>C (n.-49+27801A>C) c.956A>C (p.Lys319Thr) | |
| 22 | g.42692997T>A | CA411810157 | A4GALT,CYB5R3 | c.-49+27800A>T (n.-49+27800A>T) c.955A>T (p.Lys319Ter) | |
| 22 | g.42692997T>C | CA411810159 | A4GALT,CYB5R3 | c.-49+27800A>G (n.-49+27800A>G) c.955A>G (p.Lys319Glu) | gnomAD v4 |
| 22 | g.42692997T>G | CA411810161 | A4GALT,CYB5R3 | c.-49+27800A>C (n.-49+27800A>C) c.955A>C (p.Lys319Gln) | |
| 22 | g.42692998G>A | CA515070510 | A4GALT,CYB5R3 | c.-49+27799C>T (n.-49+27799C>T) c.954C>T (p.Asn318=) | |
| 22 | g.42692998G>C | CA411810163 | A4GALT,CYB5R3 | c.-49+27799C>G (n.-49+27799C>G) c.954C>G (p.Asn318Lys) | |
| 22 | g.42692998G>T | CA411810166 | A4GALT,CYB5R3 | c.-49+27799C>A (n.-49+27799C>A) c.954C>A (p.Asn318Lys) | gnomAD v4 |
| 22 | g.42692999T>A | CA411810170 | A4GALT,CYB5R3 | c.-49+27798A>T (n.-49+27798A>T) c.953A>T (p.Asn318Ile) | |
| 22 | g.42692999T>C | CA411810172 | A4GALT,CYB5R3 | c.-49+27798A>G (n.-49+27798A>G) c.953A>G (p.Asn318Ser) | gnomAD v4 |
| 22 | g.42692999T>G | CA411810175 | A4GALT,CYB5R3 | c.-49+27798A>C (n.-49+27798A>C) c.953A>C (p.Asn318Thr) | |
| 22 | g.42693000T>A | CA411810179 | A4GALT,CYB5R3 | c.-49+27797A>T (n.-49+27797A>T) c.952A>T (p.Asn318Tyr) | |
| 22 | g.42693000T>C | CA411810181 | A4GALT,CYB5R3 | c.-49+27797A>G (n.-49+27797A>G) c.952A>G (p.Asn318Asp) | |
| 22 | g.42693000T>G | CA411810183 | A4GALT,CYB5R3 | c.-49+27797A>C (n.-49+27797A>C) c.952A>C (p.Asn318His) | |
| 22 | g.42693001C>A | CA411810192 | A4GALT,CYB5R3 | c.-49+27796G>T (n.-49+27796G>T) c.951G>T (p.Trp317Cys) | |
| 22 | g.42693001C>G | CA411810189 | A4GALT,CYB5R3 | c.-49+27796G>C (n.-49+27796G>C) c.951G>C (p.Trp317Cys) | |
| 22 | g.42693001C>T | CA411810187 | A4GALT,CYB5R3 | c.-49+27796G>A (n.-49+27796G>A) c.951G>A (p.Trp317Ter) | |
| 22 | g.42693002C>A | CA411810193 | A4GALT,CYB5R3 | c.-49+27795G>T (n.-49+27795G>T) c.950G>T (p.Trp317Leu) | |
| 22 | g.42693002C= | CA2406870065 | A4GALT,CYB5R3 | c.-49+27795G= (n.-49+27795G=) c.950G= (p.Trp317=) | |
| 22 | g.42693002C>G | CA411810195 | A4GALT,CYB5R3 | c.-49+27795G>C (n.-49+27795G>C) c.950G>C (p.Trp317Ser) | |
| 22 | g.42693002C>T | CA411810198 | A4GALT,CYB5R3 | c.-49+27795G>A (n.-49+27795G>A) c.950G>A (p.Trp317Ter) | dbSNP gnomAD v2 |
| 22 | g.42693003A>C | CA411810201 | A4GALT,CYB5R3 | c.-49+27794T>G (n.-49+27794T>G) c.949T>G (p.Trp317Gly) | |
| 22 | g.42693003A>G | CA411810203 | A4GALT,CYB5R3 | c.-49+27794T>C (n.-49+27794T>C) c.949T>C (p.Trp317Arg) | |
| 22 | g.42693003A>T | CA411810205 | A4GALT,CYB5R3 | c.-49+27794T>A (n.-49+27794T>A) c.949T>A (p.Trp317Arg) | |
| 22 | g.42693004C>A | CA515070511 | A4GALT,CYB5R3 | c.-49+27793G>T (n.-49+27793G>T) c.948G>T (p.Val316=) | |
| 22 | g.42693004C>G | CA515070512 | A4GALT,CYB5R3 | c.-49+27793G>C (n.-49+27793G>C) c.948G>C (p.Val316=) | |
| 22 | g.42693004C>T | CA515070513 | A4GALT,CYB5R3 | c.-49+27793G>A (n.-49+27793G>A) c.948G>A (p.Val316=) | gnomAD v4 |
| 22 | g.42693005A= | CA2406870066 | A4GALT,CYB5R3 | c.-49+27792T= (n.-49+27792T=) c.947T= (p.Val316=) | |
| 22 | g.42693005A>C | CA411810208 | A4GALT,CYB5R3 | c.-49+27792T>G (n.-49+27792T>G) c.947T>G (p.Val316Gly) | |
| 22 | g.42693005A>G | CA10270177 | A4GALT,CYB5R3 | c.-49+27792T>C (n.-49+27792T>C) c.947T>C (p.Val316Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693005A>T | CA411810210 | A4GALT,CYB5R3 | c.-49+27792T>A (n.-49+27792T>A) c.947T>A (p.Val316Glu) | |
| 22 | g.42693006C>A | CA411810212 | A4GALT,CYB5R3 | c.-49+27791G>T (n.-49+27791G>T) c.946G>T (p.Val316Leu) | |
| 22 | g.42693006C= | CA2406870067 | A4GALT,CYB5R3 | c.-49+27791G= (n.-49+27791G=) c.946G= (p.Val316=) | |
| 22 | g.42693006C>G | CA411810214 | A4GALT,CYB5R3 | c.-49+27791G>C (n.-49+27791G>C) c.946G>C (p.Val316Leu) | |
| 22 | g.42693006C>T | CA10270178 | A4GALT,CYB5R3 | c.-49+27791G>A (n.-49+27791G>A) c.946G>A (p.Val316Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.42693007G>A | CA515070514 | A4GALT,CYB5R3 | c.-49+27790C>T (n.-49+27790C>T) c.945C>T (p.His315=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693007G>C | CA411810219 | A4GALT,CYB5R3 | c.-49+27790C>G (n.-49+27790C>G) c.945C>G (p.His315Gln) | gnomAD v4 |
| 22 | g.42693007G= | CA2406870068 | A4GALT,CYB5R3 | c.-49+27790C= (n.-49+27790C=) c.945C= (p.His315=) | |
| 22 | g.42693007G>T | CA411810217 | A4GALT,CYB5R3 | c.-49+27790C>A (n.-49+27790C>A) c.945C>A (p.His315Gln) | |
| 22 | g.42693008T>A | CA411810221 | A4GALT,CYB5R3 | c.-49+27789A>T (n.-49+27789A>T) c.944A>T (p.His315Leu) | |
| 22 | g.42693008T>C | CA411810224 | A4GALT,CYB5R3 | c.-49+27789A>G (n.-49+27789A>G) c.944A>G (p.His315Arg) | |
| 22 | g.42693008T>G | CA411810225 | A4GALT,CYB5R3 | c.-49+27789A>C (n.-49+27789A>C) c.944A>C (p.His315Pro) | |
| 22 | g.42693009G>A | CA324732109 | A4GALT,CYB5R3 | c.-49+27788C>T (n.-49+27788C>T) c.943C>T (p.His315Tyr) | dbSNP |
| 22 | g.42693009G>C | CA411810228 | A4GALT,CYB5R3 | c.-49+27788C>G (n.-49+27788C>G) c.943C>G (p.His315Asp) | |
| 22 | g.42693009G= | CA2406870069 | A4GALT,CYB5R3 | c.-49+27788C= (n.-49+27788C=) c.943C= (p.His315=) | |
| 22 | g.42693009G>T | CA411810231 | A4GALT,CYB5R3 | c.-49+27788C>A (n.-49+27788C>A) c.943C>A (p.His315Asn) | |
| 22 | g.42693010G>A | CA515070515 | A4GALT,CYB5R3 | c.-49+27787C>T (n.-49+27787C>T) c.942C>T (p.Val314=) | |
| 22 | g.42693010G>C | CA10270179 | A4GALT,CYB5R3 | c.-49+27787C>G (n.-49+27787C>G) c.942C>G (p.Val314=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693010G= | CA2406870070 | A4GALT,CYB5R3 | c.-49+27787C= (n.-49+27787C=) c.942C= (p.Val314=) | |
| 22 | g.42693010G>T | CA515070516 | A4GALT,CYB5R3 | c.-49+27787C>A (n.-49+27787C>A) c.942C>A (p.Val314=) | |
| 22 | g.42693011A>C | CA411810237 | A4GALT,CYB5R3 | c.-49+27786T>G (n.-49+27786T>G) c.941T>G (p.Val314Gly) | |
| 22 | g.42693011A>G | CA411810239 | A4GALT,CYB5R3 | c.-49+27786T>C (n.-49+27786T>C) c.941T>C (p.Val314Ala) | |
| 22 | g.42693011A>T | CA411810242 | A4GALT,CYB5R3 | c.-49+27786T>A (n.-49+27786T>A) c.941T>A (p.Val314Asp) | |
| 22 | g.42693012C>A | CA411810244 | A4GALT,CYB5R3 | c.-49+27785G>T (n.-49+27785G>T) c.940G>T (p.Val314Phe) | |
| 22 | g.42693012C= | CA2406870071 | A4GALT,CYB5R3 | c.-49+27785G= (n.-49+27785G=) c.940G= (p.Val314=) | |
| 22 | g.42693012C>G | CA411810246 | A4GALT,CYB5R3 | c.-49+27785G>C (n.-49+27785G>C) c.940G>C (p.Val314Leu) | gnomAD v4 |
| 22 | g.42693012C>T | CA324732112 | A4GALT,CYB5R3 | c.-49+27785G>A (n.-49+27785G>A) c.940G>A (p.Val314Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693014_42693016dup | CA2657079198 | A4GALT,CYB5R3 | c.-49+27783_-49+27785dup (n.-49+27783_-49+27785dup) c.938_940dup (p.Ala313_Val314insAla) | gnomAD v4 |
| 22 | g.42693013A>C | CA515070519 | A4GALT,CYB5R3 | c.-49+27784T>G (n.-49+27784T>G) c.939T>G (p.Ala313=) | |
| 22 | g.42693013A>G | CA515070518 | A4GALT,CYB5R3 | c.-49+27784T>C (n.-49+27784T>C) c.939T>C (p.Ala313=) | |
| 22 | g.42693013A>T | CA515070517 | A4GALT,CYB5R3 | c.-49+27784T>A (n.-49+27784T>A) c.939T>A (p.Ala313=) | |
| 22 | g.42693014G>A | CA324732115 | A4GALT,CYB5R3 | c.-49+27783C>T (n.-49+27783C>T) c.938C>T (p.Ala313Val) | dbSNP gnomAD v4 |
| 22 | g.42693014G>C | CA411810253 | A4GALT,CYB5R3 | c.-49+27783C>G (n.-49+27783C>G) c.938C>G (p.Ala313Gly) | |
| 22 | g.42693014G= | CA2406870072 | A4GALT,CYB5R3 | c.-49+27783C= (n.-49+27783C=) c.938C= (p.Ala313=) | |
| 22 | g.42693014G>T | CA411810250 | A4GALT,CYB5R3 | c.-49+27783C>A (n.-49+27783C>A) c.938C>A (p.Ala313Asp) | |
| 22 | g.42693015C>A | CA411810258 | A4GALT,CYB5R3 | c.-49+27782G>T (n.-49+27782G>T) c.937G>T (p.Ala313Ser) | dbSNP |
| 22 | g.42693015C= | CA2406870073 | A4GALT,CYB5R3 | c.-49+27782G= (n.-49+27782G=) c.937G= (p.Ala313=) | |
| 22 | g.42693015C>G | CA411810260 | A4GALT,CYB5R3 | c.-49+27782G>C (n.-49+27782G>C) c.937G>C (p.Ala313Pro) | |
| 22 | g.42693015C>T | CA411810263 | A4GALT,CYB5R3 | c.-49+27782G>A (n.-49+27782G>A) c.937G>A (p.Ala313Thr) | gnomAD v4 |
| 22 | g.42693016A= | CA2406870074 | A4GALT,CYB5R3 | c.-49+27781T= (n.-49+27781T=) c.936T= (p.Tyr312=) | |
| 22 | g.42693016A>C | CA411810266 | A4GALT,CYB5R3 | c.-49+27781T>G (n.-49+27781T>G) c.936T>G (p.Tyr312Ter) | |
| 22 | g.42693016A>G | CA10270180 | A4GALT,CYB5R3 | c.-49+27781T>C (n.-49+27781T>C) c.936T>C (p.Tyr312=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693016A>T | CA411810270 | A4GALT,CYB5R3 | c.-49+27781T>A (n.-49+27781T>A) c.936T>A (p.Tyr312Ter) | |
| 22 | g.42693017T>A | CA411810278 | A4GALT,CYB5R3 | c.-49+27780A>T (n.-49+27780A>T) c.935A>T (p.Tyr312Phe) | |
| 22 | g.42693017T>C | CA411810273 | A4GALT,CYB5R3 | c.-49+27780A>G (n.-49+27780A>G) c.935A>G (p.Tyr312Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693017T>G | CA411810275 | A4GALT,CYB5R3 | c.-49+27780A>C (n.-49+27780A>C) c.935A>C (p.Tyr312Ser) | |
| 22 | g.42693017T= | CA2406870075 | A4GALT,CYB5R3 | c.-49+27780A= (n.-49+27780A=) c.935A= (p.Tyr312=) | |
| 22 | g.42693018A>C | CA411810281 | A4GALT,CYB5R3 | c.-49+27779T>G (n.-49+27779T>G) c.934T>G (p.Tyr312Asp) | |
| 22 | g.42693018A>G | CA411810283 | A4GALT,CYB5R3 | c.-49+27779T>C (n.-49+27779T>C) c.934T>C (p.Tyr312His) | |
| 22 | g.42693018A>T | CA411810286 | A4GALT,CYB5R3 | c.-49+27779T>A (n.-49+27779T>A) c.934T>A (p.Tyr312Asn) | |
| 22 | g.42693019G>A | CA515070520 | A4GALT,CYB5R3 | c.-49+27778C>T (n.-49+27778C>T) c.933C>T (p.Thr311=) | gnomAD v4 |
| 22 | g.42693019G>C | CA324732119 | A4GALT,CYB5R3 | c.-49+27778C>G (n.-49+27778C>G) c.933C>G (p.Thr311=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693019G= | CA2406870076 | A4GALT,CYB5R3 | c.-49+27778C= (n.-49+27778C=) c.933C= (p.Thr311=) | |
| 22 | g.42693019G>T | CA515070521 | A4GALT,CYB5R3 | c.-49+27778C>A (n.-49+27778C>A) c.933C>A (p.Thr311=) | |
| 22 | g.42693020G>A | CA411810289 | A4GALT,CYB5R3 | c.-49+27777C>T (n.-49+27777C>T) c.932C>T (p.Thr311Ile) | |
| 22 | g.42693020G>C | CA411810291 | A4GALT,CYB5R3 | c.-49+27777C>G (n.-49+27777C>G) c.932C>G (p.Thr311Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693020G>T | CA411810293 | A4GALT,CYB5R3 | c.-49+27777C>A (n.-49+27777C>A) c.932C>A (p.Thr311Asn) | |
| 22 | g.42693021T>A | CA411810297 | A4GALT,CYB5R3 | c.-49+27776A>T (n.-49+27776A>T) c.931A>T (p.Thr311Ser) | |
| 22 | g.42693021T>C | CA411810299 | A4GALT,CYB5R3 | c.-49+27776A>G (n.-49+27776A>G) c.931A>G (p.Thr311Ala) | gnomAD v4 |
| 22 | g.42693021T>G | CA411810298 | A4GALT,CYB5R3 | c.-49+27776A>C (n.-49+27776A>C) c.931A>C (p.Thr311Pro) | |
| 22 | g.42693022G>A | CA10270181 | A4GALT,CYB5R3 | c.-49+27775C>T (n.-49+27775C>T) c.930C>T (p.Ala310=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693022G>C | CA515070523 | A4GALT,CYB5R3 | c.-49+27775C>G (n.-49+27775C>G) c.930C>G (p.Ala310=) | |
| 22 | g.42693022G= | CA2406870077 | A4GALT,CYB5R3 | c.-49+27775C= (n.-49+27775C=) c.930C= (p.Ala310=) | |
| 22 | g.42693022G>T | CA515070522 | A4GALT,CYB5R3 | c.-49+27775C>A (n.-49+27775C>A) c.930C>A (p.Ala310=) | |
| 22 | g.42693023G>A | CA411810305 | A4GALT,CYB5R3 | c.-49+27774C>T (n.-49+27774C>T) c.929C>T (p.Ala310Val) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693023G>C | CA411810307 | A4GALT,CYB5R3 | c.-49+27774C>G (n.-49+27774C>G) c.929C>G (p.Ala310Gly) | |
| 22 | g.42693023G= | CA2406870078 | A4GALT,CYB5R3 | c.-49+27774C= (n.-49+27774C=) c.929C= (p.Ala310=) | |
| 22 | g.42693023G>T | CA411810308 | A4GALT,CYB5R3 | c.-49+27774C>A (n.-49+27774C>A) c.929C>A (p.Ala310Asp) | gnomAD v4 |
| 22 | g.42693024C>A | CA411810312 | A4GALT,CYB5R3 | c.-49+27773G>T (n.-49+27773G>T) c.928G>T (p.Ala310Ser) | |
| 22 | g.42693024C= | CA2406870079 | A4GALT,CYB5R3 | c.-49+27773G= (n.-49+27773G=) c.928G= (p.Ala310=) | |
| 22 | g.42693024C>G | CA411810314 | A4GALT,CYB5R3 | c.-49+27773G>C (n.-49+27773G>C) c.928G>C (p.Ala310Pro) | |
| 22 | g.42693024C>T | CA411810317 | A4GALT,CYB5R3 | c.-49+27773G>A (n.-49+27773G>A) c.928G>A (p.Ala310Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693025A>C | CA411810319 | A4GALT,CYB5R3 | c.-49+27772T>G (n.-49+27772T>G) c.927T>G (p.Ser309Arg) | gnomAD v4 |
| 22 | g.42693025A>G | CA515070524 | A4GALT,CYB5R3 | c.-49+27772T>C (n.-49+27772T>C) c.927T>C (p.Ser309=) | gnomAD v4 |
| 22 | g.42693025A>T | CA411810320 | A4GALT,CYB5R3 | c.-49+27772T>A (n.-49+27772T>A) c.927T>A (p.Ser309Arg) | |
| 22 | g.42693026C>A | CA411810323 | A4GALT,CYB5R3 | c.-49+27771G>T (n.-49+27771G>T) c.926G>T (p.Ser309Ile) | |
| 22 | g.42693026C= | CA2406870080 | A4GALT,CYB5R3 | c.-49+27771G= (n.-49+27771G=) c.926G= (p.Ser309=) | |
| 22 | g.42693026C>G | CA411810324 | A4GALT,CYB5R3 | c.-49+27771G>C (n.-49+27771G>C) c.926G>C (p.Ser309Thr) | dbSNP gnomAD v4 COSMIC |
| 22 | g.42693026C>T | CA411810326 | A4GALT,CYB5R3 | c.-49+27771G>A (n.-49+27771G>A) c.926G>A (p.Ser309Asn) | gnomAD v4 |
| 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 |