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 |
|---|---|---|---|---|---|
| X | g.74740902C>A | CA413665049 | NEXMIF | c.3655G>T (p.Val1219Phe) | |
| X | g.74740902C>G | CA413665051 | NEXMIF | c.3655G>C (p.Val1219Leu) | |
| X | g.74740902C>T | CA413665047 | NEXMIF | c.3655G>A (p.Val1219Ile) | ClinVar |
| X | g.74740903C>A | CA413665055 | NEXMIF | c.3654G>T (p.Gln1218His) | |
| X | g.74740903C>G | CA413665056 | NEXMIF | c.3654G>C (p.Gln1218His) | gnomAD v4 |
| X | g.74740903C>T | CA517466546 | NEXMIF | c.3654G>A (p.Gln1218=) | gnomAD v4 |
| X | g.74740904T>A | CA413665057 | NEXMIF | c.3653A>T (p.Gln1218Leu) | |
| X | g.74740904T>C | CA331301712 | NEXMIF | c.3653A>G (p.Gln1218Arg) | ClinVar dbSNP |
| X | g.74740904T>G | CA413665059 | NEXMIF | c.3653A>C (p.Gln1218Pro) | |
| X | g.74740904T= | CA2437590163 | NEXMIF | c.3653A= (p.Gln1218=) | |
| X | g.74740905G>A | CA413665065 | NEXMIF | c.3652C>T (p.Gln1218Ter) | COSMIC |
| X | g.74740905G>C | CA413665063 | NEXMIF | c.3652C>G (p.Gln1218Glu) | |
| X | g.74740905G>T | CA413665062 | NEXMIF | c.3652C>A (p.Gln1218Lys) | |
| X | g.74740906G>A | CA517466550 | NEXMIF | c.3651C>T (p.Arg1217=) | |
| X | g.74740906G>C | CA517466551 | NEXMIF | c.3651C>G (p.Arg1217=) | |
| X | g.74740906G>T | CA517466552 | NEXMIF | c.3651C>A (p.Arg1217=) | |
| X | g.74740907C>A | CA413665067 | NEXMIF | c.3650G>T (p.Arg1217Leu) | dbSNP |
| X | g.74740907C= | CA2437590164 | NEXMIF | c.3650G= (p.Arg1217=) | |
| X | g.74740907C>G | CA413665069 | NEXMIF | c.3650G>C (p.Arg1217Pro) | |
| X | g.74740907C>T | CA10454921 | NEXMIF | c.3650G>A (p.Arg1217His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.74740908G>A | CA331301713 | NEXMIF | c.3649C>T (p.Arg1217Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.74740908G>C | CA413665072 | NEXMIF | c.3649C>G (p.Arg1217Gly) | |
| X | g.74740908G= | CA2437590165 | NEXMIF | c.3649C= (p.Arg1217=) | |
| X | g.74740908G>T | CA413665074 | NEXMIF | c.3649C>A (p.Arg1217Ser) | |
| X | g.74740909G>A | CA10454922 | NEXMIF | c.3648C>T (p.Ser1216=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.74740909G>C | CA517466557 | NEXMIF | c.3648C>G (p.Ser1216=) | |
| X | g.74740909G= | CA2437590166 | NEXMIF | c.3648C= (p.Ser1216=) | |
| X | g.74740909G>T | CA517466558 | NEXMIF | c.3648C>A (p.Ser1216=) | |
| X | g.74740910G>A | CA413665080 | NEXMIF | c.3647C>T (p.Ser1216Phe) | |
| X | g.74740910G>C | CA413665079 | NEXMIF | c.3647C>G (p.Ser1216Cys) | |
| X | g.74740910G>T | CA413665077 | NEXMIF | c.3647C>A (p.Ser1216Tyr) | |
| X | g.74740911A>C | CA413665084 | NEXMIF | c.3646T>G (p.Ser1216Ala) | |
| X | g.74740911A>G | CA413665082 | NEXMIF | c.3646T>C (p.Ser1216Pro) | |
| X | g.74740911A>T | CA413665086 | NEXMIF | c.3646T>A (p.Ser1216Thr) | |
| X | g.74740912G>A | CA517466562 | NEXMIF | c.3645C>T (p.Asn1215=) | |
| X | g.74740912G>C | CA413665088 | NEXMIF | c.3645C>G (p.Asn1215Lys) | |
| X | g.74740912G>T | CA413665090 | NEXMIF | c.3645C>A (p.Asn1215Lys) | |
| X | g.74740913T>A | CA413665092 | NEXMIF | c.3644A>T (p.Asn1215Ile) | |
| X | g.74740913T>C | CA413665094 | NEXMIF | c.3644A>G (p.Asn1215Ser) | |
| X | g.74740913T>G | CA331301714 | NEXMIF | c.3644A>C (p.Asn1215Thr) | dbSNP |
| X | g.74740913T= | CA2437590167 | NEXMIF | c.3644A= (p.Asn1215=) | |
| X | g.74740914T>A | CA413665096 | NEXMIF | c.3643A>T (p.Asn1215Tyr) | |
| X | g.74740914T>C | CA413665099 | NEXMIF | c.3643A>G (p.Asn1215Asp) | |
| X | g.74740914T>G | CA413665098 | NEXMIF | c.3643A>C (p.Asn1215His) | |
| X | g.74740915T>A | CA413665101 | NEXMIF | c.3642A>T (p.Lys1214Asn) | |
| X | g.74740915T>C | CA517466565 | NEXMIF | c.3642A>G (p.Lys1214=) | |
| X | g.74740915T>G | CA413665104 | NEXMIF | c.3642A>C (p.Lys1214Asn) | |
| X | g.74740916T>A | CA413665106 | NEXMIF | c.3641A>T (p.Lys1214Ile) | |
| X | g.74740916T>C | CA413665107 | NEXMIF | c.3641A>G (p.Lys1214Arg) | ClinVar |
| X | g.74740916T>G | CA413665109 | NEXMIF | c.3641A>C (p.Lys1214Thr) | |
| X | g.74740917T>A | CA413665111 | NEXMIF | c.3640A>T (p.Lys1214Ter) | |
| X | g.74740917T>C | CA413665113 | NEXMIF | c.3640A>G (p.Lys1214Glu) | |
| X | g.74740917T>G | CA413665114 | NEXMIF | c.3640A>C (p.Lys1214Gln) | |
| X | g.74740918G>A | CA517466572 | NEXMIF | c.3639C>T (p.Gly1213=) | gnomAD v4 |
| X | g.74740918G>C | CA517466570 | NEXMIF | c.3639C>G (p.Gly1213=) | ClinVar |
| X | g.74740918G>T | CA517466571 | NEXMIF | c.3639C>A (p.Gly1213=) | |
| X | g.74740919C>A | CA413665117 | NEXMIF | c.3638G>T (p.Gly1213Val) | |
| X | g.74740919C= | CA2437590168 | NEXMIF | c.3638G= (p.Gly1213=) | |
| X | g.74740919C>G | CA413665118 | NEXMIF | c.3638G>C (p.Gly1213Ala) | |
| X | g.74740919C>T | CA413665120 | NEXMIF | c.3638G>A (p.Gly1213Asp) | ClinVar dbSNP |
| X | g.74740920C>A | CA413665122 | NEXMIF | c.3637G>T (p.Gly1213Cys) | |
| X | g.74740920C= | CA2437590169 | NEXMIF | c.3637G= (p.Gly1213=) | |
| X | g.74740920C>G | CA413665124 | NEXMIF | c.3637G>C (p.Gly1213Arg) | |
| X | g.74740920C>T | CA205233 | NEXMIF | c.3637G>A (p.Gly1213Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.74740921A>C | CA517466576 | NEXMIF | c.3636T>G (p.Pro1212=) | |
| X | g.74740921A>G | CA517466577 | NEXMIF | c.3636T>C (p.Pro1212=) | |
| X | g.74740921A>T | CA517466579 | NEXMIF | c.3636T>A (p.Pro1212=) | |
| X | g.74740922G>A | CA413665126 | NEXMIF | c.3635C>T (p.Pro1212Leu) | |
| X | g.74740922G>C | CA413665128 | NEXMIF | c.3635C>G (p.Pro1212Arg) | |
| X | g.74740922G>T | CA413665129 | NEXMIF | c.3635C>A (p.Pro1212His) | |
| X | g.74740923G>A | CA413665132 | NEXMIF | c.3634C>T (p.Pro1212Ser) | dbSNP |
| X | g.74740923G>C | CA413665133 | NEXMIF | c.3634C>G (p.Pro1212Ala) | COSMIC |
| X | g.74740923G= | CA2437590170 | NEXMIF | c.3634C= (p.Pro1212=) | |
| X | g.74740923G>T | CA413665135 | NEXMIF | c.3634C>A (p.Pro1212Thr) | |
| X | g.74740924T>A | CA517466581 | NEXMIF | c.3633A>T (p.Pro1211=) | |
| X | g.74740924T>C | CA517466582 | NEXMIF | c.3633A>G (p.Pro1211=) | ClinVar dbSNP gnomAD v4 |
| X | g.74740924T>G | CA517466583 | NEXMIF | c.3633A>C (p.Pro1211=) | |
| X | g.74740924T= | CA2437590171 | NEXMIF | c.3633A= (p.Pro1211=) | |
| X | g.74740925G>A | CA413665136 | NEXMIF | c.3632C>T (p.Pro1211Leu) | |
| X | g.74740925G>C | CA413665137 | NEXMIF | c.3632C>G (p.Pro1211Arg) | |
| X | g.74740925G>T | CA413665139 | NEXMIF | c.3632C>A (p.Pro1211Gln) | |
| X | g.74740926G>A | CA331301715 | NEXMIF | c.3631C>T (p.Pro1211Ser) | dbSNP gnomAD v4 COSMIC |
| X | g.74740926G>C | CA413665143 | NEXMIF | c.3631C>G (p.Pro1211Ala) | |
| X | g.74740926G= | CA2437590173 | NEXMIF | c.3631C= (p.Pro1211=) | |
| X | g.74740926G>T | CA413665141 | NEXMIF | c.3631C>A (p.Pro1211Thr) | gnomAD v4 |
| X | g.74740926_74740929delinsGTTT | CA2437590172 | NEXMIF | c.3628_3631delinsAAAC (p.Lys1210=) | |
| X | g.74740927T>A | CA413665145 | NEXMIF | c.3630A>T (p.Lys1210Asn) | |
| X | g.74740927T>C | CA331301716 | NEXMIF | c.3630A>G (p.Lys1210=) | dbSNP gnomAD v4 |
| X | g.74740927T>G | CA413665148 | NEXMIF | c.3630A>C (p.Lys1210Asn) | |
| X | g.74740927T= | CA2437590174 | NEXMIF | c.3630A= (p.Lys1210=) | |
| X | g.74740931del | CA1139667659 | NEXMIF | c.3630del (p.Lys1210AsnfsTer?) | ClinVar dbSNP |
| X | g.74740929_74740931del | CA10454923 | NEXMIF | c.3628_3630del (p.Lys1210del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.74740928T>A | CA413665150 | NEXMIF | c.3629A>T (p.Lys1210Ile) | |
| X | g.74740928T>C | CA413665152 | NEXMIF | c.3629A>G (p.Lys1210Arg) | |
| X | g.74740928T>G | CA413665154 | NEXMIF | c.3629A>C (p.Lys1210Thr) | |
| X | g.74740929T>A | CA413665155 | NEXMIF | c.3628A>T (p.Lys1210Ter) | |
| X | g.74740929T>C | CA413665157 | NEXMIF | c.3628A>G (p.Lys1210Glu) | |
| X | g.74740929T>G | CA413665159 | NEXMIF | c.3628A>C (p.Lys1210Gln) | |
| X | g.74740930T>A | CA413665161 | NEXMIF | c.3627A>T (p.Glu1209Asp) | |
| X | g.74740930T>C | CA517466589 | NEXMIF | c.3627A>G (p.Glu1209=) | |
| X | g.74740930T>G | CA413665162 | NEXMIF | c.3627A>C (p.Glu1209Asp) | |
| X | g.74740931T>A | CA413665170 | NEXMIF | c.3626A>T (p.Glu1209Val) | |
| X | g.74740931T>C | CA413665164 | NEXMIF | c.3626A>G (p.Glu1209Gly) | |
| X | g.74740931T>G | CA413665166 | NEXMIF | c.3626A>C (p.Glu1209Ala) | |
| X | g.74740932C>A | CA413665172 | NEXMIF | c.3625G>T (p.Glu1209Ter) | |
| X | g.74740932C>G | CA413665173 | NEXMIF | c.3625G>C (p.Glu1209Gln) | |
| X | g.74740932C>T | CA413665175 | NEXMIF | c.3625G>A (p.Glu1209Lys) | |
| X | g.74740933A>C | CA413665177 | NEXMIF | c.3624T>G (p.Ile1208Met) | |
| X | g.74740933A>G | CA517466594 | NEXMIF | c.3624T>C (p.Ile1208=) | |
| X | g.74740933A>T | CA517466595 | NEXMIF | c.3624T>A (p.Ile1208=) | |
| X | g.74740934A>C | CA413665179 | NEXMIF | c.3623T>G (p.Ile1208Ser) | |
| X | g.74740934A>G | CA413665181 | NEXMIF | c.3623T>C (p.Ile1208Thr) | |
| X | g.74740934A>T | CA413665182 | NEXMIF | c.3623T>A (p.Ile1208Asn) | gnomAD v4 |
| X | g.74740935T>A | CA413665184 | NEXMIF | c.3622A>T (p.Ile1208Phe) | |
| X | g.74740935T>C | CA413665186 | NEXMIF | c.3622A>G (p.Ile1208Val) | gnomAD v4 |
| X | g.74740935T>G | CA413665188 | NEXMIF | c.3622A>C (p.Ile1208Leu) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.74740935T= | CA2437590175 | NEXMIF | c.3622A= (p.Ile1208=) | |
| X | g.74740936C>A | CA517466600 | NEXMIF | c.3621G>T (p.Gly1207=) | gnomAD v4 |
| X | g.74740936C>G | CA517466601 | NEXMIF | c.3621G>C (p.Gly1207=) | |
| X | g.74740936C>T | CA517466602 | NEXMIF | c.3621G>A (p.Gly1207=) | COSMIC |
| X | g.74740937C>A | CA413665190 | NEXMIF | c.3620G>T (p.Gly1207Val) | |
| X | g.74740937C= | CA2437590176 | NEXMIF | c.3620G= (p.Gly1207=) | |
| X | g.74740937C>G | CA413665192 | NEXMIF | c.3620G>C (p.Gly1207Ala) | |
| X | g.74740937C>T | CA331301717 | NEXMIF | c.3620G>A (p.Gly1207Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.74740938C>A | CA413665197 | NEXMIF | c.3619G>T (p.Gly1207Trp) | |
| X | g.74740938C>G | CA413665198 | NEXMIF | c.3619G>C (p.Gly1207Arg) | |
| X | g.74740938C>T | CA413665195 | NEXMIF | c.3619G>A (p.Gly1207Arg) | |
| X | g.74740939C>A | CA413665201 | NEXMIF | c.3618G>T (p.Lys1206Asn) | |
| X | g.74740939C>G | CA413665200 | NEXMIF | c.3618G>C (p.Lys1206Asn) | |
| X | g.74740939C>T | CA517466609 | NEXMIF | c.3618G>A (p.Lys1206=) | |
| X | g.74740939_74740942delinsCTTG | CA2437590177 | NEXMIF | c.3615_3618delinsCAAG (p.Asn1205=) | |
| X | g.74740940T>A | CA413665204 | NEXMIF | c.3617A>T (p.Lys1206Met) | |
| X | g.74740940T>C | CA413665205 | NEXMIF | c.3617A>G (p.Lys1206Arg) | |
| X | g.74740940T>G | CA413665207 | NEXMIF | c.3617A>C (p.Lys1206Thr) | |
| X | g.74740945_74740947del | CA10454924 | NEXMIF | c.3615_3617del (p.Asn1205del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.74740941T>A | CA413665208 | NEXMIF | c.3616A>T (p.Lys1206Ter) | |
| X | g.74740941T>C | CA413665210 | NEXMIF | c.3616A>G (p.Lys1206Glu) | |
| X | g.74740941T>G | CA413665212 | NEXMIF | c.3616A>C (p.Lys1206Gln) | |
| X | g.74740942G>A | CA517466611 | NEXMIF | c.3615C>T (p.Asn1205=) | dbSNP gnomAD v4 |
| X | g.74740942G>C | CA413665214 | NEXMIF | c.3615C>G (p.Asn1205Lys) | |
| X | g.74740942G= | CA2437590178 | NEXMIF | c.3615C= (p.Asn1205=) | |
| X | g.74740942G>T | CA413665215 | NEXMIF | c.3615C>A (p.Asn1205Lys) | gnomAD v4 |
| X | g.74740943T>A | CA413665217 | NEXMIF | c.3614A>T (p.Asn1205Ile) | |
| X | g.74740943T>C | CA413665219 | NEXMIF | c.3614A>G (p.Asn1205Ser) | |
| X | g.74740943T>G | CA413665220 | NEXMIF | c.3614A>C (p.Asn1205Thr) | |
| X | g.74740944T>A | CA413665226 | NEXMIF | c.3613A>T (p.Asn1205Tyr) | |
| X | g.74740944T>C | CA413665222 | NEXMIF | c.3613A>G (p.Asn1205Asp) | |
| X | g.74740944T>G | CA413665225 | NEXMIF | c.3613A>C (p.Asn1205His) | |
| X | g.74740945G>A | CA10454925 | NEXMIF | c.3612C>T (p.Asn1204=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.74740945G>C | CA413665227 | NEXMIF | c.3612C>G (p.Asn1204Lys) | ClinVar |
| X | g.74740945G= | CA2437590179 | NEXMIF | c.3612C= (p.Asn1204=) | |
| X | g.74740945G>T | CA413665228 | NEXMIF | c.3612C>A (p.Asn1204Lys) | COSMIC |
| X | g.74740945_74740962delinsGTTACCTTTGAGGGATTT | CA2437590180 | NEXMIF | c.3595_3612delinsAAATCCCTCAAAGGTAAC (p.Lys1199=) | |
| X | g.74740946T>A | CA413665229 | NEXMIF | c.3611A>T (p.Asn1204Ile) | gnomAD v4 |
| X | g.74740946T>C | CA413665230 | NEXMIF | c.3611A>G (p.Asn1204Ser) | |
| X | g.74740946T>G | CA413665231 | NEXMIF | c.3611A>C (p.Asn1204Thr) | |
| X | g.74740948_74740964del | CA658659014 | NEXMIF | c.3595_3611del (p.Lys1199GlnfsTer5) | ClinVar dbSNP |
| X | g.74740947T>A | CA413665232 | NEXMIF | c.3610A>T (p.Asn1204Tyr) | |
| X | g.74740947T>C | CA413665233 | NEXMIF | c.3610A>G (p.Asn1204Asp) | |
| X | g.74740947T>G | CA413665234 | NEXMIF | c.3610A>C (p.Asn1204His) | |
| X | g.74740948A>C | CA517466082 | NEXMIF | c.3609T>G (p.Gly1203=) | |
| X | g.74740948A>G | CA517466085 | NEXMIF | c.3609T>C (p.Gly1203=) | |
| X | g.74740948A>T | CA517466083 | NEXMIF | c.3609T>A (p.Gly1203=) | |
| X | g.74740949C>A | CA413665236 | NEXMIF | c.3608G>T (p.Gly1203Val) | dbSNP |
| X | g.74740949C= | CA2437590181 | NEXMIF | c.3608G= (p.Gly1203=) | |
| X | g.74740949C>G | CA413665238 | NEXMIF | c.3608G>C (p.Gly1203Ala) | |
| X | g.74740949C>T | CA413665240 | NEXMIF | c.3608G>A (p.Gly1203Asp) | |
| X | g.74740950C>A | CA413665245 | NEXMIF | c.3607G>T (p.Gly1203Cys) | |
| X | g.74740950C>G | CA413665243 | NEXMIF | c.3607G>C (p.Gly1203Arg) | gnomAD v4 |
| X | g.74740950C>T | CA413665242 | NEXMIF | c.3607G>A (p.Gly1203Ser) | gnomAD v4 |
| X | g.74740951T>A | CA413665247 | NEXMIF | c.3606A>T (p.Lys1202Asn) | |
| X | g.74740951T>C | CA517466089 | NEXMIF | c.3606A>G (p.Lys1202=) | dbSNP |
| X | g.74740951T>G | CA413665249 | NEXMIF | c.3606A>C (p.Lys1202Asn) | |
| X | g.74740951T= | CA2437590182 | NEXMIF | c.3606A= (p.Lys1202=) | |
| X | g.74740952T>A | CA413665251 | NEXMIF | c.3605A>T (p.Lys1202Ile) | |
| X | g.74740952T>C | CA413665253 | NEXMIF | c.3605A>G (p.Lys1202Arg) | |
| X | g.74740952T>G | CA413665256 | NEXMIF | c.3605A>C (p.Lys1202Thr) | |
| X | g.74740953T>A | CA413665262 | NEXMIF | c.3604A>T (p.Lys1202Ter) | |
| X | g.74740953T>C | CA413665260 | NEXMIF | c.3604A>G (p.Lys1202Glu) | |
| X | g.74740953T>G | CA413665258 | NEXMIF | c.3604A>C (p.Lys1202Gln) | |
| X | g.74740954G>A | CA517466097 | NEXMIF | c.3603C>T (p.Leu1201=) | |
| X | g.74740954G>C | CA517466098 | NEXMIF | c.3603C>G (p.Leu1201=) | |
| X | g.74740954G>T | CA517466099 | NEXMIF | c.3603C>A (p.Leu1201=) | |
| X | g.74740955A= | CA2437590183 | NEXMIF | c.3602T= (p.Leu1201=) | |
| X | g.74740955A>C | CA413665264 | NEXMIF | c.3602T>G (p.Leu1201Arg) | |
| X | g.74740955A>G | CA413665265 | NEXMIF | c.3602T>C (p.Leu1201Pro) | |
| X | g.74740955A>T | CA413665266 | NEXMIF | c.3602T>A (p.Leu1201His) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.74740956G>A | CA413665269 | NEXMIF | c.3601C>T (p.Leu1201Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.74740956G>C | CA413665270 | NEXMIF | c.3601C>G (p.Leu1201Val) | |
| X | g.74740956G= | CA2437590184 | NEXMIF | c.3601C= (p.Leu1201=) | |
| X | g.74740956G>T | CA413665272 | NEXMIF | c.3601C>A (p.Leu1201Ile) | gnomAD v4 |
| X | g.74740957G>A | CA517466101 | NEXMIF | c.3600C>T (p.Ser1200=) | ClinVar COSMIC |
| X | g.74740957G>C | CA517466102 | NEXMIF | c.3600C>G (p.Ser1200=) | |
| X | g.74740957G>T | CA517466103 | NEXMIF | c.3600C>A (p.Ser1200=) | |
| X | g.74740958G>A | CA413665274 | NEXMIF | c.3599C>T (p.Ser1200Phe) | COSMIC |
| X | g.74740958G>C | CA413665277 | NEXMIF | c.3599C>G (p.Ser1200Cys) | |
| X | g.74740958G>T | CA413665276 | NEXMIF | c.3599C>A (p.Ser1200Tyr) | |
| X | g.74740958_74740959insT | CA645603757 | NEXMIF | c.3598_3599insA (p.Ser1200TyrfsTer5) | COSMIC |
| X | g.74740959A= | CA2437590185 | NEXMIF | c.3598T= (p.Ser1200=) | |
| X | g.74740959A>C | CA413665279 | NEXMIF | c.3598T>G (p.Ser1200Ala) | |
| X | g.74740959A>G | CA413665281 | NEXMIF | c.3598T>C (p.Ser1200Pro) | |
| X | g.74740959A>T | CA413665283 | NEXMIF | c.3598T>A (p.Ser1200Thr) | |
| X | g.74740960T>A | CA413665286 | NEXMIF | c.3597A>T (p.Lys1199Asn) | |
| X | g.74740960T>C | CA517466113 | NEXMIF | c.3597A>G (p.Lys1199=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.74740960T>G | CA413665287 | NEXMIF | c.3597A>C (p.Lys1199Asn) | |
| X | g.74740960T= | CA2437590186 | NEXMIF | c.3597A= (p.Lys1199=) | |
| X | g.74740965dup | CA145333 | NEXMIF | c.3597dup (p.Ser1200IlefsTer5) | ClinVar dbSNP |
| X | g.74740961T>A | CA413665289 | NEXMIF | c.3596A>T (p.Lys1199Ile) | |
| X | g.74740961T>C | CA413665290 | NEXMIF | c.3596A>G (p.Lys1199Arg) | |
| X | g.74740961T>G | CA413665292 | NEXMIF | c.3596A>C (p.Lys1199Thr) | |
| X | g.74740962T>A | CA413665293 | NEXMIF | c.3595A>T (p.Lys1199Ter) | |
| X | g.74740962T>C | CA413665294 | NEXMIF | c.3595A>G (p.Lys1199Glu) | |
| X | g.74740962T>G | CA413665296 | NEXMIF | c.3595A>C (p.Lys1199Gln) | |
| X | g.74740963T>A | CA413665300 | NEXMIF | c.3594A>T (p.Lys1198Asn) | |
| X | g.74740963T>C | CA517466118 | NEXMIF | c.3594A>G (p.Lys1198=) | |
| X | g.74740963T>G | CA413665298 | NEXMIF | c.3594A>C (p.Lys1198Asn) | |
| X | g.74740964T>A | CA10454926 | NEXMIF | c.3593A>T (p.Lys1198Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.74740964T>C | CA413665305 | NEXMIF | c.3593A>G (p.Lys1198Arg) | |
| X | g.74740964T>G | CA413665303 | NEXMIF | c.3593A>C (p.Lys1198Thr) | |
| X | g.74740964T= | CA2437590187 | NEXMIF | c.3593A= (p.Lys1198=) | |
| X | g.74740965T>A | CA413665307 | NEXMIF | c.3592A>T (p.Lys1198Ter) | ClinVar dbSNP |
| X | g.74740965T>C | CA413665311 | NEXMIF | c.3592A>G (p.Lys1198Glu) | |
| X | g.74740965T>G | CA413665309 | NEXMIF | c.3592A>C (p.Lys1198Gln) | |
| X | g.74740966C>A | CA413665313 | NEXMIF | c.3591G>T (p.Arg1197Ser) | gnomAD v4 |
| X | g.74740966C= | CA2437590188 | NEXMIF | c.3591G= (p.Arg1197=) | |
| X | g.74740966C>G | CA413665315 | NEXMIF | c.3591G>C (p.Arg1197Ser) | |
| X | g.74740966C>T | CA10454927 | NEXMIF | c.3591G>A (p.Arg1197=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.74740967del | CA2695235568 | NEXMIF | c.3591del (p.Lys1199AsnfsTer?) | |
| X | g.74740967C>A | CA413665317 | NEXMIF | c.3590G>T (p.Arg1197Met) | COSMIC |
| X | g.74740967C>G | CA413665319 | NEXMIF | c.3590G>C (p.Arg1197Thr) | |
| X | g.74740967C>T | CA413665321 | NEXMIF | c.3590G>A (p.Arg1197Lys) | dbSNP gnomAD v4 COSMIC |
| X | g.74740968T>A | CA413665323 | NEXMIF | c.3589A>T (p.Arg1197Trp) | |
| X | g.74740968T>C | CA413665324 | NEXMIF | c.3589A>G (p.Arg1197Gly) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.74740968T>G | CA517466119 | NEXMIF | c.3589A>C (p.Arg1197=) | |
| X | g.74740968T= | CA2437590189 | NEXMIF | c.3589A= (p.Arg1197=) | |
| X | g.74740969G>A | CA517466120 | NEXMIF | c.3588C>T (p.Thr1196=) | |
| X | g.74740969G>C | CA517466121 | NEXMIF | c.3588C>G (p.Thr1196=) | |
| X | g.74740969G>T | CA517466122 | NEXMIF | c.3588C>A (p.Thr1196=) | |
| X | g.74740970G>A | CA413665326 | NEXMIF | c.3587C>T (p.Thr1196Ile) | dbSNP gnomAD v4 |
| X | g.74740970G>C | CA413665328 | NEXMIF | c.3587C>G (p.Thr1196Ser) | |
| X | g.74740970G= | CA2437590190 | NEXMIF | c.3587C= (p.Thr1196=) | |
| X | g.74740970G>T | CA413665330 | NEXMIF | c.3587C>A (p.Thr1196Asn) | |
| X | g.74740971T>A | CA413665335 | NEXMIF | c.3586A>T (p.Thr1196Ser) | |
| X | g.74740971T>C | CA413665332 | NEXMIF | c.3586A>G (p.Thr1196Ala) | ClinVar |
| X | g.74740971T>G | CA413665334 | NEXMIF | c.3586A>C (p.Thr1196Pro) | |
| X | g.74740972G>A | CA517466123 | NEXMIF | c.3585C>T (p.Asn1195=) | |
| X | g.74740972G>C | CA413665337 | NEXMIF | c.3585C>G (p.Asn1195Lys) | |
| X | g.74740972G= | CA2437590191 | NEXMIF | c.3585C= (p.Asn1195=) | |
| X | g.74740972G>T | CA413665339 | NEXMIF | c.3585C>A (p.Asn1195Lys) | |
| X | g.74740973T>A | CA413665340 | NEXMIF | c.3584A>T (p.Asn1195Ile) | |
| X | g.74740973T>C | CA413665342 | NEXMIF | c.3584A>G (p.Asn1195Ser) | |
| X | g.74740973T>G | CA413665344 | NEXMIF | c.3584A>C (p.Asn1195Thr) | |
| X | g.74740977dup | CA915951284 | NEXMIF | c.3584dup (p.Asn1195LysfsTer10) | ClinVar dbSNP |
| X | g.74740974T>A | CA413665346 | NEXMIF | c.3583A>T (p.Asn1195Tyr) | |
| X | g.74740974T>C | CA413665347 | NEXMIF | c.3583A>G (p.Asn1195Asp) | |
| X | g.74740974T>G | CA413665349 | NEXMIF | c.3583A>C (p.Asn1195His) | |
| X | g.74740975T>A | CA413665351 | NEXMIF | c.3582A>T (p.Lys1194Asn) | |
| X | g.74740975T>C | CA517466125 | NEXMIF | c.3582A>G (p.Lys1194=) | |
| X | g.74740975T>G | CA413665353 | NEXMIF | c.3582A>C (p.Lys1194Asn) | |
| X | g.74740976T>A | CA413665356 | NEXMIF | c.3581A>T (p.Lys1194Ile) | |
| X | g.74740976T>C | CA413665358 | NEXMIF | c.3581A>G (p.Lys1194Arg) | |
| X | g.74740976T>G | CA413665354 | NEXMIF | c.3581A>C (p.Lys1194Thr) | |
| X | g.74740977T>A | CA413665359 | NEXMIF | c.3580A>T (p.Lys1194Ter) | |
| X | g.74740977T>C | CA413665361 | NEXMIF | c.3580A>G (p.Lys1194Glu) | |
| X | g.74740977T>G | CA413665363 | NEXMIF | c.3580A>C (p.Lys1194Gln) | |
| X | g.74740978del | CA2573055404 | NEXMIF | c.3579del (p.Asn1195ThrfsTer?) | ClinVar dbSNP |
| X | g.74740978C>A | CA413665365 | NEXMIF | c.3579G>T (p.Gln1193His) | |
| X | g.74740978C>G | CA413665366 | NEXMIF | c.3579G>C (p.Gln1193His) | |
| X | g.74740978C>T | CA517466127 | NEXMIF | c.3579G>A (p.Gln1193=) | |
| X | g.74740979T>A | CA413665368 | NEXMIF | c.3578A>T (p.Gln1193Leu) | ClinVar |
| X | g.74740979T>C | CA413665370 | NEXMIF | c.3578A>G (p.Gln1193Arg) | |
| X | g.74740979T>G | CA413665372 | NEXMIF | c.3578A>C (p.Gln1193Pro) | |
| X | g.74740980G>A | CA413665373 | NEXMIF | c.3577C>T (p.Gln1193Ter) | COSMIC |
| X | g.74740980G>C | CA413665375 | NEXMIF | c.3577C>G (p.Gln1193Glu) | |
| X | g.74740980G>T | CA413665377 | NEXMIF | c.3577C>A (p.Gln1193Lys) | |
| X | g.74740981A>C | CA517466128 | NEXMIF | c.3576T>G (p.Ser1192=) | |
| X | g.74740981A>G | CA517466129 | NEXMIF | c.3576T>C (p.Ser1192=) | |
| X | g.74740981A>T | CA517466130 | NEXMIF | c.3576T>A (p.Ser1192=) | |
| X | g.74740982G>A | CA413665380 | NEXMIF | c.3575C>T (p.Ser1192Phe) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| X | g.74740982G>C | CA413665382 | NEXMIF | c.3575C>G (p.Ser1192Cys) | gnomAD v4 |
| X | g.74740982G= | CA2437590192 | NEXMIF | c.3575C= (p.Ser1192=) | |
| X | g.74740982G>T | CA413665379 | NEXMIF | c.3575C>A (p.Ser1192Tyr) | |
| X | g.74740983A= | CA2437590193 | NEXMIF | c.3574T= (p.Ser1192=) | |
| X | g.74740983A>C | CA413665385 | NEXMIF | c.3574T>G (p.Ser1192Ala) | |
| X | g.74740983A>G | CA413665386 | NEXMIF | c.3574T>C (p.Ser1192Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.74740983A>T | CA413665388 | NEXMIF | c.3574T>A (p.Ser1192Thr) | |
| X | g.74740984A>C | CA517466132 | NEXMIF | c.3573T>G (p.Ser1191=) | |
| X | g.74740984A>G | CA517466133 | NEXMIF | c.3573T>C (p.Ser1191=) | |
| X | g.74740984A>T | CA517466134 | NEXMIF | c.3573T>A (p.Ser1191=) | |
| X | g.74740985G>A | CA413665389 | NEXMIF | c.3572C>T (p.Ser1191Phe) | |
| X | g.74740985G>C | CA413665390 | NEXMIF | c.3572C>G (p.Ser1191Cys) | |
| X | g.74740985G>T | CA413665392 | NEXMIF | c.3572C>A (p.Ser1191Tyr) | |
| X | g.74740986A= | CA2437590194 | NEXMIF | c.3571T= (p.Ser1191=) | |
| X | g.74740986A>C | CA10454929 | NEXMIF | c.3571T>G (p.Ser1191Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.74740986A>G | CA10454928 | NEXMIF | c.3571T>C (p.Ser1191Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.74740986A>T | CA413665394 | NEXMIF | c.3571T>A (p.Ser1191Thr) | |
| X | g.74740987G>A | CA517466136 | NEXMIF | c.3570C>T (p.Ser1190=) | |
| X | g.74740987G>C | CA413665395 | NEXMIF | c.3570C>G (p.Ser1190Arg) | |
| X | g.74740987G>T | CA413665396 | NEXMIF | c.3570C>A (p.Ser1190Arg) | |
| X | g.74740988C>A | CA413665397 | NEXMIF | c.3569G>T (p.Ser1190Ile) | |
| X | g.74740988C= | CA2437590195 | NEXMIF | c.3569G= (p.Ser1190=) | |
| X | g.74740988C>G | CA413665398 | NEXMIF | c.3569G>C (p.Ser1190Thr) | |
| X | g.74740988C>T | CA10454930 | NEXMIF | c.3569G>A (p.Ser1190Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.74740989T>A | CA413665401 | NEXMIF | c.3568A>T (p.Ser1190Cys) | |
| X | g.74740989T>C | CA413665400 | NEXMIF | c.3568A>G (p.Ser1190Gly) | |
| X | g.74740989T>G | CA413665399 | NEXMIF | c.3568A>C (p.Ser1190Arg) | |
| X | g.74740990T>A | CA413665404 | NEXMIF | c.3567A>T (p.Gln1189His) | |
| X | g.74740990T>C | CA517466139 | NEXMIF | c.3567A>G (p.Gln1189=) | |
| X | g.74740990T>G | CA413665403 | NEXMIF | c.3567A>C (p.Gln1189His) | |
| X | g.74740991T>A | CA413665408 | NEXMIF | c.3566A>T (p.Gln1189Leu) | |
| X | g.74740991T>C | CA413665405 | NEXMIF | c.3566A>G (p.Gln1189Arg) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.74740991T>G | CA413665407 | NEXMIF | c.3566A>C (p.Gln1189Pro) | |
| X | g.74740991T= | CA2437590196 | NEXMIF | c.3566A= (p.Gln1189=) | |
| X | g.74740991_74740992insTCTGAGAAGAGTG | CA2695235569 | NEXMIF | c.3565_3566insCACTCTTCTCAGA (p.Gln1189ProfsTer20) | |
| X | g.74740992G>A | CA413665410 | NEXMIF | c.3565C>T (p.Gln1189Ter) | |
| X | g.74740992G>C | CA413665411 | NEXMIF | c.3565C>G (p.Gln1189Glu) | |
| X | g.74740992G>T | CA413665413 | NEXMIF | c.3565C>A (p.Gln1189Lys) | |
| X | g.74740993G>A | CA517466141 | NEXMIF | c.3564C>T (p.Asn1188=) | |
| X | g.74740993G>C | CA413665415 | NEXMIF | c.3564C>G (p.Asn1188Lys) | |
| X | g.74740993G>T | CA413665417 | NEXMIF | c.3564C>A (p.Asn1188Lys) | |
| X | g.74740994T>A | CA413665419 | NEXMIF | c.3563A>T (p.Asn1188Ile) | |
| X | g.74740994T>C | CA413665420 | NEXMIF | c.3563A>G (p.Asn1188Ser) | |
| X | g.74740994T>G | CA413665421 | NEXMIF | c.3563A>C (p.Asn1188Thr) | |
| X | g.74740995T>A | CA413665422 | NEXMIF | c.3562A>T (p.Asn1188Tyr) | |
| X | g.74740995T>C | CA413665425 | NEXMIF | c.3562A>G (p.Asn1188Asp) | |
| X | g.74740995T>G | CA413665427 | NEXMIF | c.3562A>C (p.Asn1188His) | |
| X | g.74740996C>A | CA413665431 | NEXMIF | c.3561G>T (p.Met1187Ile) | |
| X | g.74740996C>G | CA413665428 | NEXMIF | c.3561G>C (p.Met1187Ile) | |
| X | g.74740996C>T | CA413665429 | NEXMIF | c.3561G>A (p.Met1187Ile) | COSMIC |
| X | g.74740997A= | CA2437590197 | NEXMIF | c.3560T= (p.Met1187=) | |
| X | g.74740997A>C | CA413665434 | NEXMIF | c.3560T>G (p.Met1187Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.74740997A>G | CA413665435 | NEXMIF | c.3560T>C (p.Met1187Thr) | gnomAD v4 |
| X | g.74740997A>T | CA413665436 | NEXMIF | c.3560T>A (p.Met1187Lys) | |
| X | g.74740998T>A | CA413665437 | NEXMIF | c.3559A>T (p.Met1187Leu) | |
| X | g.74740998T>C | CA10454931 | NEXMIF | c.3559A>G (p.Met1187Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.74740998T>G | CA413665438 | NEXMIF | c.3559A>C (p.Met1187Leu) | |
| X | g.74740998T= | CA2437590198 | NEXMIF | c.3559A= (p.Met1187=) | |
| X | g.74740999A>C | CA517466143 | NEXMIF | c.3558T>G (p.Ala1186=) | |
| X | g.74740999A>G | CA517466144 | NEXMIF | c.3558T>C (p.Ala1186=) | |
| X | g.74740999A>T | CA517466145 | NEXMIF | c.3558T>A (p.Ala1186=) | |
| X | g.74741000G>A | CA413665440 | NEXMIF | c.3557C>T (p.Ala1186Val) | |
| X | g.74741000G>C | CA413665441 | NEXMIF | c.3557C>G (p.Ala1186Gly) | |
| X | g.74741000G>T | CA413665443 | NEXMIF | c.3557C>A (p.Ala1186Asp) | COSMIC |
| X | g.74741001C>A | CA413665444 | NEXMIF | c.3556G>T (p.Ala1186Ser) | |
| X | g.74741001C>G | CA413665446 | NEXMIF | c.3556G>C (p.Ala1186Pro) | |
| X | g.74741001C>T | CA413665448 | NEXMIF | c.3556G>A (p.Ala1186Thr) | |
| X | g.74741002C>A | CA10454932 | NEXMIF | c.3555G>T (p.Gly1185=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.74741002C= | CA2437590199 | NEXMIF | c.3555G= (p.Gly1185=) | |
| X | g.74741002C>G | CA517466147 | NEXMIF | c.3555G>C (p.Gly1185=) | |
| X | g.74741002C>T | CA517466148 | NEXMIF | c.3555G>A (p.Gly1185=) |