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.74740805A>C | CA413664824 | NEXMIF | c.3752T>G (p.Ile1251Arg) | |
| X | g.74740805A>G | CA413664825 | NEXMIF | c.3752T>C (p.Ile1251Thr) | COSMIC |
| X | g.74740805A>T | CA413664826 | NEXMIF | c.3752T>A (p.Ile1251Lys) | |
| X | g.74740806T>A | CA413664827 | NEXMIF | c.3751A>T (p.Ile1251Leu) | |
| X | g.74740806T>C | CA10454915 | NEXMIF | c.3751A>G (p.Ile1251Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.74740806T>G | CA413664828 | NEXMIF | c.3751A>C (p.Ile1251Leu) | |
| X | g.74740806T= | CA2437590125 | NEXMIF | c.3751A= (p.Ile1251=) | |
| X | g.74740807G>A | CA517466337 | NEXMIF | c.3750C>T (p.Thr1250=) | gnomAD v4 |
| X | g.74740807G>C | CA517466338 | NEXMIF | c.3750C>G (p.Thr1250=) | |
| X | g.74740807G>T | CA517466340 | NEXMIF | c.3750C>A (p.Thr1250=) | |
| X | g.74740808G>A | CA413664829 | NEXMIF | c.3749C>T (p.Thr1250Ile) | |
| X | g.74740808G>C | CA413664830 | NEXMIF | c.3749C>G (p.Thr1250Ser) | |
| X | g.74740808G>T | CA413664831 | NEXMIF | c.3749C>A (p.Thr1250Asn) | |
| X | g.74740809T>A | CA413664834 | NEXMIF | c.3748A>T (p.Thr1250Ser) | |
| X | g.74740809T>C | CA413664832 | NEXMIF | c.3748A>G (p.Thr1250Ala) | |
| X | g.74740809T>G | CA413664833 | NEXMIF | c.3748A>C (p.Thr1250Pro) | |
| X | g.74740810G>A | CA517466346 | NEXMIF | c.3747C>T (p.Asn1249=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.74740810G>C | CA413664835 | NEXMIF | c.3747C>G (p.Asn1249Lys) | |
| X | g.74740810G= | CA2437590126 | NEXMIF | c.3747C= (p.Asn1249=) | |
| X | g.74740810G>T | CA413664836 | NEXMIF | c.3747C>A (p.Asn1249Lys) | |
| X | g.74740811T>A | CA413664837 | NEXMIF | c.3746A>T (p.Asn1249Ile) | |
| X | g.74740811T>C | CA413664838 | NEXMIF | c.3746A>G (p.Asn1249Ser) | |
| X | g.74740811T>G | CA413664839 | NEXMIF | c.3746A>C (p.Asn1249Thr) | |
| X | g.74740812T>A | CA413664840 | NEXMIF | c.3745A>T (p.Asn1249Tyr) | |
| X | g.74740812T>C | CA413664841 | NEXMIF | c.3745A>G (p.Asn1249Asp) | |
| X | g.74740812T>G | CA413664842 | NEXMIF | c.3745A>C (p.Asn1249His) | |
| X | g.74740813G>A | CA517466351 | NEXMIF | c.3744C>T (p.Thr1248=) | |
| X | g.74740813G>C | CA517466352 | NEXMIF | c.3744C>G (p.Thr1248=) | |
| X | g.74740813G= | CA2437590127 | NEXMIF | c.3744C= (p.Thr1248=) | |
| X | g.74740813G>T | CA517466354 | NEXMIF | c.3744C>A (p.Thr1248=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.74740814G>A | CA413664843 | NEXMIF | c.3743C>T (p.Thr1248Ile) | gnomAD v4 |
| X | g.74740814G>C | CA413664844 | NEXMIF | c.3743C>G (p.Thr1248Ser) | |
| X | g.74740814G>T | CA413664845 | NEXMIF | c.3743C>A (p.Thr1248Asn) | |
| X | g.74740815T>A | CA413664848 | NEXMIF | c.3742A>T (p.Thr1248Ser) | |
| X | g.74740815T>C | CA413664847 | NEXMIF | c.3742A>G (p.Thr1248Ala) | |
| X | g.74740815T>G | CA413664846 | NEXMIF | c.3742A>C (p.Thr1248Pro) | |
| X | g.74740816T>A | CA413664849 | NEXMIF | c.3741A>T (p.Gln1247His) | |
| X | g.74740816T>C | CA517466358 | NEXMIF | c.3741A>G (p.Gln1247=) | |
| X | g.74740816T>G | CA413664850 | NEXMIF | c.3741A>C (p.Gln1247His) | |
| X | g.74740817T>A | CA413664851 | NEXMIF | c.3740A>T (p.Gln1247Leu) | |
| X | g.74740817T>C | CA413664852 | NEXMIF | c.3740A>G (p.Gln1247Arg) | |
| X | g.74740817T>G | CA413664853 | NEXMIF | c.3740A>C (p.Gln1247Pro) | |
| X | g.74740818G>A | CA413664854 | NEXMIF | c.3739C>T (p.Gln1247Ter) | |
| X | g.74740818G>C | CA413664855 | NEXMIF | c.3739C>G (p.Gln1247Glu) | |
| X | g.74740818G>T | CA413664856 | NEXMIF | c.3739C>A (p.Gln1247Lys) | |
| X | g.74740819G>A | CA517466362 | NEXMIF | c.3738C>T (p.Ser1246=) | dbSNP |
| X | g.74740819G>C | CA413664857 | NEXMIF | c.3738C>G (p.Ser1246Arg) | |
| X | g.74740819G>T | CA413664858 | NEXMIF | c.3738C>A (p.Ser1246Arg) | |
| X | g.74740820C>A | CA413664859 | NEXMIF | c.3737G>T (p.Ser1246Ile) | |
| X | g.74740820C= | CA2437590128 | NEXMIF | c.3737G= (p.Ser1246=) | |
| X | g.74740820C>G | CA413664860 | NEXMIF | c.3737G>C (p.Ser1246Thr) | |
| X | g.74740820C>T | CA413664861 | NEXMIF | c.3737G>A (p.Ser1246Asn) | ClinVar dbSNP gnomAD v4 |
| X | g.74740821T>A | CA413664864 | NEXMIF | c.3736A>T (p.Ser1246Cys) | |
| X | g.74740821T>C | CA413664862 | NEXMIF | c.3736A>G (p.Ser1246Gly) | |
| X | g.74740821T>G | CA413664863 | NEXMIF | c.3736A>C (p.Ser1246Arg) | |
| X | g.74740822T>A | CA517466369 | NEXMIF | c.3735A>T (p.Gly1245=) | |
| X | g.74740822T>C | CA517466371 | NEXMIF | c.3735A>G (p.Gly1245=) | |
| X | g.74740822T>G | CA517466367 | NEXMIF | c.3735A>C (p.Gly1245=) | |
| X | g.74740823C>A | CA413664865 | NEXMIF | c.3734G>T (p.Gly1245Val) | |
| X | g.74740823C>G | CA413664866 | NEXMIF | c.3734G>C (p.Gly1245Ala) | |
| X | g.74740823C>T | CA413664867 | NEXMIF | c.3734G>A (p.Gly1245Glu) | |
| X | g.74740824C>A | CA413664868 | NEXMIF | c.3733G>T (p.Gly1245Ter) | |
| X | g.74740824C>G | CA413664869 | NEXMIF | c.3733G>C (p.Gly1245Arg) | |
| X | g.74740824C>T | CA413664870 | NEXMIF | c.3733G>A (p.Gly1245Arg) | |
| X | g.74740825C>A | CA517466376 | NEXMIF | c.3732G>T (p.Gly1244=) | gnomAD v4 |
| X | g.74740825C>G | CA517466377 | NEXMIF | c.3732G>C (p.Gly1244=) | |
| X | g.74740825C>T | CA517466378 | NEXMIF | c.3732G>A (p.Gly1244=) | |
| X | g.74740826C>A | CA413664871 | NEXMIF | c.3731G>T (p.Gly1244Val) | |
| X | g.74740826C= | CA2437590129 | NEXMIF | c.3731G= (p.Gly1244=) | |
| X | g.74740826C>G | CA331301708 | NEXMIF | c.3731G>C (p.Gly1244Ala) | dbSNP |
| X | g.74740826C>T | CA413664872 | NEXMIF | c.3731G>A (p.Gly1244Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.74740827C>A | CA413664873 | NEXMIF | c.3730G>T (p.Gly1244Trp) | |
| X | g.74740827C= | CA2437590130 | NEXMIF | c.3730G= (p.Gly1244=) | |
| X | g.74740827C>G | CA413664874 | NEXMIF | c.3730G>C (p.Gly1244Arg) | ClinVar dbSNP gnomAD v4 |
| X | g.74740827C>T | CA413664875 | NEXMIF | c.3730G>A (p.Gly1244Arg) | gnomAD v4 |
| X | g.74740828A>C | CA517466386 | NEXMIF | c.3729T>G (p.Arg1243=) | gnomAD v4 |
| X | g.74740828A>G | CA517466385 | NEXMIF | c.3729T>C (p.Arg1243=) | |
| X | g.74740828A>T | CA517466384 | NEXMIF | c.3729T>A (p.Arg1243=) | |
| X | g.74740829del | CA2579647330 | NEXMIF | c.3728del (p.Arg1243LeufsTer29) | |
| X | g.74740829C>A | CA413664878 | NEXMIF | c.3728G>T (p.Arg1243Leu) | |
| X | g.74740829C= | CA2437590131 | NEXMIF | c.3728G= (p.Arg1243=) | |
| X | g.74740829C>G | CA413664877 | NEXMIF | c.3728G>C (p.Arg1243Pro) | ClinVar dbSNP |
| X | g.74740829C>T | CA413664876 | NEXMIF | c.3728G>A (p.Arg1243His) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| X | g.74740830G>A | CA10454916 | NEXMIF | c.3727C>T (p.Arg1243Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.74740830G>C | CA413664879 | NEXMIF | c.3727C>G (p.Arg1243Gly) | |
| X | g.74740830G= | CA2437590132 | NEXMIF | c.3727C= (p.Arg1243=) | |
| X | g.74740830G>T | CA413664880 | NEXMIF | c.3727C>A (p.Arg1243Ser) | |
| X | g.74740831G>A | CA517466392 | NEXMIF | c.3726C>T (p.Gly1242=) | |
| X | g.74740831G>C | CA517466393 | NEXMIF | c.3726C>G (p.Gly1242=) | |
| X | g.74740831G>T | CA517466394 | NEXMIF | c.3726C>A (p.Gly1242=) | |
| X | g.74740832C>A | CA413664881 | NEXMIF | c.3725G>T (p.Gly1242Val) | COSMIC |
| X | g.74740832C>G | CA413664882 | NEXMIF | c.3725G>C (p.Gly1242Ala) | |
| X | g.74740832C>T | CA413664883 | NEXMIF | c.3725G>A (p.Gly1242Asp) | |
| X | g.74740833C>A | CA413664884 | NEXMIF | c.3724G>T (p.Gly1242Cys) | |
| X | g.74740833C>G | CA413664885 | NEXMIF | c.3724G>C (p.Gly1242Arg) | |
| X | g.74740833C>T | CA413664886 | NEXMIF | c.3724G>A (p.Gly1242Ser) | |
| X | g.74740834A>C | CA413664887 | NEXMIF | c.3723T>G (p.Ile1241Met) | |
| X | g.74740834A>G | CA517466401 | NEXMIF | c.3723T>C (p.Ile1241=) | |
| X | g.74740834A>T | CA517466402 | NEXMIF | c.3723T>A (p.Ile1241=) | |
| X | g.74740835A>C | CA413664888 | NEXMIF | c.3722T>G (p.Ile1241Ser) | |
| X | g.74740835A>G | CA413664889 | NEXMIF | c.3722T>C (p.Ile1241Thr) | gnomAD v4 |
| X | g.74740835A>T | CA413664890 | NEXMIF | c.3722T>A (p.Ile1241Asn) | |
| X | g.74740836T>A | CA413664891 | NEXMIF | c.3721A>T (p.Ile1241Phe) | |
| X | g.74740836T>C | CA413664892 | NEXMIF | c.3721A>G (p.Ile1241Val) | |
| X | g.74740836T>G | CA413664893 | NEXMIF | c.3721A>C (p.Ile1241Leu) | |
| X | g.74740837G>A | CA517466406 | NEXMIF | c.3720C>T (p.Gly1240=) | |
| X | g.74740837G>C | CA517466407 | NEXMIF | c.3720C>G (p.Gly1240=) | |
| X | g.74740837G= | CA2437590133 | NEXMIF | c.3720C= (p.Gly1240=) | |
| X | g.74740837G>T | CA517466409 | NEXMIF | c.3720C>A (p.Gly1240=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.74740838C>A | CA413664894 | NEXMIF | c.3719G>T (p.Gly1240Val) | |
| X | g.74740838C= | CA2437590134 | NEXMIF | c.3719G= (p.Gly1240=) | |
| X | g.74740838C>G | CA413664896 | NEXMIF | c.3719G>C (p.Gly1240Ala) | dbSNP |
| X | g.74740838C>T | CA413664895 | NEXMIF | c.3719G>A (p.Gly1240Asp) | |
| X | g.74740838_74740839delinsAA | CA645603756 | NEXMIF | c.3718_3719delinsTT (p.Gly1240Phe) | COSMIC |
| X | g.74740839C>A | CA413664897 | NEXMIF | c.3718G>T (p.Gly1240Cys) | |
| X | g.74740839C= | CA2437590135 | NEXMIF | c.3718G= (p.Gly1240=) | |
| X | g.74740839C>G | CA413664898 | NEXMIF | c.3718G>C (p.Gly1240Arg) | |
| X | g.74740839C>T | CA413664899 | NEXMIF | c.3718G>A (p.Gly1240Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.74740840A>C | CA413664900 | NEXMIF | c.3717T>G (p.Ile1239Met) | |
| X | g.74740840A>G | CA517466415 | NEXMIF | c.3717T>C (p.Ile1239=) | |
| X | g.74740840A>T | CA517466417 | NEXMIF | c.3717T>A (p.Ile1239=) | |
| X | g.74740841A>C | CA413664901 | NEXMIF | c.3716T>G (p.Ile1239Ser) | |
| X | g.74740841A>G | CA413664902 | NEXMIF | c.3716T>C (p.Ile1239Thr) | |
| X | g.74740841A>T | CA413664903 | NEXMIF | c.3716T>A (p.Ile1239Asn) | |
| X | g.74740842T>A | CA413664904 | NEXMIF | c.3715A>T (p.Ile1239Phe) | dbSNP |
| X | g.74740842T>C | CA413664905 | NEXMIF | c.3715A>G (p.Ile1239Val) | |
| X | g.74740842T>G | CA413664906 | NEXMIF | c.3715A>C (p.Ile1239Leu) | |
| X | g.74740842T= | CA2437590136 | NEXMIF | c.3715A= (p.Ile1239=) | |
| X | g.74740843T>A | CA413664907 | NEXMIF | c.3714A>T (p.Gln1238His) | |
| X | g.74740843T>C | CA517466419 | NEXMIF | c.3714A>G (p.Gln1238=) | |
| X | g.74740843T>G | CA413664908 | NEXMIF | c.3714A>C (p.Gln1238His) | |
| X | g.74740844T>A | CA413664909 | NEXMIF | c.3713A>T (p.Gln1238Leu) | |
| X | g.74740844T>C | CA413664911 | NEXMIF | c.3713A>G (p.Gln1238Arg) | dbSNP COSMIC |
| X | g.74740844T>G | CA413664910 | NEXMIF | c.3713A>C (p.Gln1238Pro) | |
| X | g.74740844T= | CA2437590137 | NEXMIF | c.3713A= (p.Gln1238=) | |
| X | g.74740845G>A | CA413664912 | NEXMIF | c.3712C>T (p.Gln1238Ter) | |
| X | g.74740845G>C | CA413664913 | NEXMIF | c.3712C>G (p.Gln1238Glu) | |
| X | g.74740845G>T | CA413664914 | NEXMIF | c.3712C>A (p.Gln1238Lys) | |
| X | g.74740846C>A | CA413664915 | NEXMIF | c.3711G>T (p.Met1237Ile) | |
| X | g.74740846C>G | CA413664916 | NEXMIF | c.3711G>C (p.Met1237Ile) | |
| X | g.74740846C>T | CA413664917 | NEXMIF | c.3711G>A (p.Met1237Ile) | gnomAD v4 |
| X | g.74740847A= | CA2437590138 | NEXMIF | c.3710T= (p.Met1237=) | |
| X | g.74740847A>C | CA413664920 | NEXMIF | c.3710T>G (p.Met1237Arg) | |
| X | g.74740847A>G | CA413664918 | NEXMIF | c.3710T>C (p.Met1237Thr) | |
| X | g.74740847A>T | CA413664919 | NEXMIF | c.3710T>A (p.Met1237Lys) | dbSNP gnomAD v4 |
| X | g.74740848T>A | CA10454917 | NEXMIF | c.3709A>T (p.Met1237Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.74740848T>C | CA413664921 | NEXMIF | c.3709A>G (p.Met1237Val) | |
| X | g.74740848T>G | CA413664922 | NEXMIF | c.3709A>C (p.Met1237Leu) | |
| X | g.74740848T= | CA2437590139 | NEXMIF | c.3709A= (p.Met1237=) | |
| X | g.74740851dup | CA2573055403 | NEXMIF | c.3709dup (p.Met1237AsnfsTer24) | ClinVar dbSNP |
| X | g.74740849T>A | CA413664923 | NEXMIF | c.3708A>T (p.Lys1236Asn) | |
| X | g.74740849T>C | CA517466430 | NEXMIF | c.3708A>G (p.Lys1236=) | |
| X | g.74740849T>G | CA413664924 | NEXMIF | c.3708A>C (p.Lys1236Asn) | |
| X | g.74740850T>A | CA413664925 | NEXMIF | c.3707A>T (p.Lys1236Ile) | |
| X | g.74740850T>C | CA413664927 | NEXMIF | c.3707A>G (p.Lys1236Arg) | |
| X | g.74740850T>G | CA413664926 | NEXMIF | c.3707A>C (p.Lys1236Thr) | |
| X | g.74740851T>A | CA413664928 | NEXMIF | c.3706A>T (p.Lys1236Ter) | |
| X | g.74740851T>C | CA413664929 | NEXMIF | c.3706A>G (p.Lys1236Glu) | COSMIC |
| X | g.74740851T>G | CA413664930 | NEXMIF | c.3706A>C (p.Lys1236Gln) | |
| X | g.74740852C>A | CA413664931 | NEXMIF | c.3705G>T (p.Glu1235Asp) | |
| X | g.74740852C>G | CA413664932 | NEXMIF | c.3705G>C (p.Glu1235Asp) | |
| X | g.74740852C>T | CA517466441 | NEXMIF | c.3705G>A (p.Glu1235=) | |
| X | g.74740853T>A | CA413664933 | NEXMIF | c.3704A>T (p.Glu1235Val) | |
| X | g.74740853T>C | CA413664934 | NEXMIF | c.3704A>G (p.Glu1235Gly) | |
| X | g.74740853T>G | CA413664935 | NEXMIF | c.3704A>C (p.Glu1235Ala) | |
| X | g.74740854C>A | CA413664936 | NEXMIF | c.3703G>T (p.Glu1235Ter) | |
| X | g.74740854C= | CA2437590140 | NEXMIF | c.3703G= (p.Glu1235=) | |
| X | g.74740854C>G | CA413664937 | NEXMIF | c.3703G>C (p.Glu1235Gln) | |
| X | g.74740854C>T | CA10454918 | NEXMIF | c.3703G>A (p.Glu1235Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.74740855T>A | CA517466448 | NEXMIF | c.3702A>T (p.Gly1234=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.74740855T>C | CA517466450 | NEXMIF | c.3702A>G (p.Gly1234=) | |
| X | g.74740855T>G | CA517466453 | NEXMIF | c.3702A>C (p.Gly1234=) | |
| X | g.74740855T= | CA2437590141 | NEXMIF | c.3702A= (p.Gly1234=) | |
| X | g.74740856C>A | CA413664938 | NEXMIF | c.3701G>T (p.Gly1234Val) | |
| X | g.74740856C= | CA2437590142 | NEXMIF | c.3701G= (p.Gly1234=) | |
| X | g.74740856C>G | CA413664939 | NEXMIF | c.3701G>C (p.Gly1234Ala) | |
| X | g.74740856C>T | CA10454919 | NEXMIF | c.3701G>A (p.Gly1234Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.74740857C>A | CA413664940 | NEXMIF | c.3700G>T (p.Gly1234Ter) | ClinVar dbSNP |
| X | g.74740857C= | CA2437590143 | NEXMIF | c.3700G= (p.Gly1234=) | |
| X | g.74740857C>G | CA413664942 | NEXMIF | c.3700G>C (p.Gly1234Arg) | |
| X | g.74740857C>T | CA413664941 | NEXMIF | c.3700G>A (p.Gly1234Arg) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.74740858A= | CA2437590144 | NEXMIF | c.3699T= (p.Asn1233=) | |
| X | g.74740858A>C | CA413664943 | NEXMIF | c.3699T>G (p.Asn1233Lys) | |
| X | g.74740858A>G | CA517466455 | NEXMIF | c.3699T>C (p.Asn1233=) | dbSNP gnomAD v4 |
| X | g.74740858A>T | CA413664944 | NEXMIF | c.3699T>A (p.Asn1233Lys) | |
| X | g.74740859T>A | CA413664945 | NEXMIF | c.3698A>T (p.Asn1233Ile) | |
| X | g.74740859T>C | CA413664946 | NEXMIF | c.3698A>G (p.Asn1233Ser) | |
| X | g.74740859T>G | CA413664947 | NEXMIF | c.3698A>C (p.Asn1233Thr) | |
| X | g.74740860T>A | CA413664948 | NEXMIF | c.3697A>T (p.Asn1233Tyr) | |
| X | g.74740860T>C | CA413664949 | NEXMIF | c.3697A>G (p.Asn1233Asp) | |
| X | g.74740860T>G | CA413664950 | NEXMIF | c.3697A>C (p.Asn1233His) | |
| X | g.74740861G>A | CA517466457 | NEXMIF | c.3696C>T (p.Ile1232=) | dbSNP |
| X | g.74740861G>C | CA413664951 | NEXMIF | c.3696C>G (p.Ile1232Met) | |
| X | g.74740861G= | CA2437590145 | NEXMIF | c.3696C= (p.Ile1232=) | |
| X | g.74740861G>T | CA517466459 | NEXMIF | c.3696C>A (p.Ile1232=) | |
| X | g.74740862A>C | CA413664952 | NEXMIF | c.3695T>G (p.Ile1232Ser) | |
| X | g.74740862A>G | CA413664953 | NEXMIF | c.3695T>C (p.Ile1232Thr) | |
| X | g.74740862A>T | CA413664954 | NEXMIF | c.3695T>A (p.Ile1232Asn) | |
| X | g.74740863T>A | CA413664956 | NEXMIF | c.3694A>T (p.Ile1232Phe) | |
| X | g.74740863T>C | CA331301709 | NEXMIF | c.3694A>G (p.Ile1232Val) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.74740863T>G | CA413664955 | NEXMIF | c.3694A>C (p.Ile1232Leu) | |
| X | g.74740863T= | CA2437590146 | NEXMIF | c.3694A= (p.Ile1232=) | |
| X | g.74740864G>A | CA517466466 | NEXMIF | c.3693C>T (p.Ala1231=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.74740864G>C | CA517466465 | NEXMIF | c.3693C>G (p.Ala1231=) | |
| X | g.74740864G= | CA2437590147 | NEXMIF | c.3693C= (p.Ala1231=) | |
| X | g.74740864G>T | CA517466463 | NEXMIF | c.3693C>A (p.Ala1231=) | |
| X | g.74740865G>A | CA413664957 | NEXMIF | c.3692C>T (p.Ala1231Val) | |
| X | g.74740865G>C | CA413664958 | NEXMIF | c.3692C>G (p.Ala1231Gly) | |
| X | g.74740865G>T | CA413664959 | NEXMIF | c.3692C>A (p.Ala1231Asp) | |
| X | g.74740866C>A | CA413664960 | NEXMIF | c.3691G>T (p.Ala1231Ser) | ClinVar dbSNP gnomAD v4 |
| X | g.74740866C= | CA2437590148 | NEXMIF | c.3691G= (p.Ala1231=) | |
| X | g.74740866C>G | CA413664961 | NEXMIF | c.3691G>C (p.Ala1231Pro) | |
| X | g.74740866C>T | CA413664962 | NEXMIF | c.3691G>A (p.Ala1231Thr) | |
| X | g.74740867A>C | CA517466471 | NEXMIF | c.3690T>G (p.Ala1230=) | |
| X | g.74740867A>G | CA517466473 | NEXMIF | c.3690T>C (p.Ala1230=) | |
| X | g.74740867A>T | CA517466474 | NEXMIF | c.3690T>A (p.Ala1230=) | |
| X | g.74740867_74740868delinsAG | CA2437590149 | NEXMIF | c.3689_3690delinsCT (p.Ala1230=) | |
| X | g.74740868del | CA915951283 | NEXMIF | c.3689del (p.Ala1230ValfsTer?) | ClinVar dbSNP |
| X | g.74740868G>A | CA413664963 | NEXMIF | c.3689C>T (p.Ala1230Val) | gnomAD v4 |
| X | g.74740868G>C | CA413664964 | NEXMIF | c.3689C>G (p.Ala1230Gly) | |
| X | g.74740868G>T | CA413664965 | NEXMIF | c.3689C>A (p.Ala1230Asp) | |
| X | g.74740869C>A | CA413664966 | NEXMIF | c.3688G>T (p.Ala1230Ser) | |
| X | g.74740869C>G | CA413664967 | NEXMIF | c.3688G>C (p.Ala1230Pro) | gnomAD v4 |
| X | g.74740869C>T | CA413664968 | NEXMIF | c.3688G>A (p.Ala1230Thr) | gnomAD v4 |
| X | g.74740870C>A | CA413664970 | NEXMIF | c.3687G>T (p.Met1229Ile) | COSMIC |
| X | g.74740870C>G | CA413664971 | NEXMIF | c.3687G>C (p.Met1229Ile) | |
| X | g.74740870C>T | CA413664969 | NEXMIF | c.3687G>A (p.Met1229Ile) | |
| X | g.74740871A= | CA2437590150 | NEXMIF | c.3686T= (p.Met1229=) | |
| X | g.74740871A>C | CA413664972 | NEXMIF | c.3686T>G (p.Met1229Arg) | dbSNP gnomAD v4 |
| X | g.74740871A>G | CA413664973 | NEXMIF | c.3686T>C (p.Met1229Thr) | |
| X | g.74740871A>T | CA413664974 | NEXMIF | c.3686T>A (p.Met1229Lys) | |
| X | g.74740872T>A | CA413664975 | NEXMIF | c.3685A>T (p.Met1229Leu) | |
| X | g.74740872T>C | CA413664976 | NEXMIF | c.3685A>G (p.Met1229Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.74740872T>G | CA413664977 | NEXMIF | c.3685A>C (p.Met1229Leu) | |
| X | g.74740872T= | CA2437590151 | NEXMIF | c.3685A= (p.Met1229=) | |
| X | g.74740873G>A | CA517466481 | NEXMIF | c.3684C>T (p.Tyr1228=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.74740873G>C | CA413664978 | NEXMIF | c.3684C>G (p.Tyr1228Ter) | |
| X | g.74740873G= | CA2437590152 | NEXMIF | c.3684C= (p.Tyr1228=) | |
| X | g.74740873G>T | CA413664979 | NEXMIF | c.3684C>A (p.Tyr1228Ter) | |
| X | g.74740874T>A | CA413664980 | NEXMIF | c.3683A>T (p.Tyr1228Phe) | |
| X | g.74740874T>C | CA413664981 | NEXMIF | c.3683A>G (p.Tyr1228Cys) | |
| X | g.74740874T>G | CA413664982 | NEXMIF | c.3683A>C (p.Tyr1228Ser) | |
| X | g.74740875A= | CA2437590153 | NEXMIF | c.3682T= (p.Tyr1228=) | |
| X | g.74740875A>C | CA413664983 | NEXMIF | c.3682T>G (p.Tyr1228Asp) | |
| X | g.74740875A>G | CA413664984 | NEXMIF | c.3682T>C (p.Tyr1228His) | ClinVar dbSNP gnomAD v4 |
| X | g.74740875A>T | CA413664985 | NEXMIF | c.3682T>A (p.Tyr1228Asn) | |
| X | g.74740876T>A | CA413664986 | NEXMIF | c.3681A>T (p.Lys1227Asn) | |
| X | g.74740876T>C | CA517466486 | NEXMIF | c.3681A>G (p.Lys1227=) | |
| X | g.74740876T>G | CA413664987 | NEXMIF | c.3681A>C (p.Lys1227Asn) | |
| X | g.74740877T>A | CA413664988 | NEXMIF | c.3680A>T (p.Lys1227Ile) | |
| X | g.74740877T>C | CA413664989 | NEXMIF | c.3680A>G (p.Lys1227Arg) | |
| X | g.74740877T>G | CA413664990 | NEXMIF | c.3680A>C (p.Lys1227Thr) | |
| X | g.74740878T>A | CA413664991 | NEXMIF | c.3679A>T (p.Lys1227Ter) | |
| X | g.74740878T>C | CA413664992 | NEXMIF | c.3679A>G (p.Lys1227Glu) | |
| X | g.74740878T>G | CA413664993 | NEXMIF | c.3679A>C (p.Lys1227Gln) | dbSNP |
| X | g.74740878T= | CA2437590154 | NEXMIF | c.3679A= (p.Lys1227=) | |
| X | g.74740879C>A | CA331301710 | NEXMIF | c.3678G>T (p.Gly1226=) | dbSNP gnomAD v4 |
| X | g.74740879C= | CA2437590155 | NEXMIF | c.3678G= (p.Gly1226=) | |
| X | g.74740879C>G | CA517466495 | NEXMIF | c.3678G>C (p.Gly1226=) | |
| X | g.74740879C>T | CA517466497 | NEXMIF | c.3678G>A (p.Gly1226=) | ClinVar dbSNP gnomAD v4 |
| X | g.74740880C>A | CA413664994 | NEXMIF | c.3677G>T (p.Gly1226Val) | |
| X | g.74740880C= | CA2437590156 | NEXMIF | c.3677G= (p.Gly1226=) | |
| X | g.74740880C>G | CA413664995 | NEXMIF | c.3677G>C (p.Gly1226Ala) | gnomAD v4 |
| X | g.74740880C>T | CA10454920 | NEXMIF | c.3677G>A (p.Gly1226Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.74740881C>A | CA413664996 | NEXMIF | c.3676G>T (p.Gly1226Trp) | |
| X | g.74740881C>G | CA413664997 | NEXMIF | c.3676G>C (p.Gly1226Arg) | |
| X | g.74740881C>T | CA413664998 | NEXMIF | c.3676G>A (p.Gly1226Arg) | |
| X | g.74740882T>A | CA413664999 | NEXMIF | c.3675A>T (p.Lys1225Asn) | gnomAD v4 |
| X | g.74740882T>C | CA517466508 | NEXMIF | c.3675A>G (p.Lys1225=) | |
| X | g.74740882T>G | CA413665000 | NEXMIF | c.3675A>C (p.Lys1225Asn) | |
| X | g.74740883T>A | CA413665001 | NEXMIF | c.3674A>T (p.Lys1225Ile) | |
| X | g.74740883T>C | CA413665003 | NEXMIF | c.3674A>G (p.Lys1225Arg) | |
| X | g.74740883T>G | CA413665002 | NEXMIF | c.3674A>C (p.Lys1225Thr) | |
| X | g.74740884T>A | CA413665004 | NEXMIF | c.3673A>T (p.Lys1225Ter) | |
| X | g.74740884T>C | CA413665005 | NEXMIF | c.3673A>G (p.Lys1225Glu) | |
| X | g.74740884T>G | CA413665006 | NEXMIF | c.3673A>C (p.Lys1225Gln) | |
| X | g.74740885C>A | CA413665007 | NEXMIF | c.3672G>T (p.Lys1224Asn) | |
| X | g.74740885C>G | CA413665008 | NEXMIF | c.3672G>C (p.Lys1224Asn) | |
| X | g.74740885C>T | CA517466514 | NEXMIF | c.3672G>A (p.Lys1224=) | |
| X | g.74740886T>A | CA413665009 | NEXMIF | c.3671A>T (p.Lys1224Met) | |
| X | g.74740886T>C | CA413665010 | NEXMIF | c.3671A>G (p.Lys1224Arg) | |
| X | g.74740886T>G | CA413665011 | NEXMIF | c.3671A>C (p.Lys1224Thr) | |
| X | g.74740887T>A | CA413665012 | NEXMIF | c.3670A>T (p.Lys1224Ter) | |
| X | g.74740887T>C | CA413665013 | NEXMIF | c.3670A>G (p.Lys1224Glu) | gnomAD v4 |
| X | g.74740887T>G | CA413665014 | NEXMIF | c.3670A>C (p.Lys1224Gln) | |
| X | g.74740888T>A | CA517466518 | NEXMIF | c.3669A>T (p.Thr1223=) | |
| X | g.74740888T>C | CA517466519 | NEXMIF | c.3669A>G (p.Thr1223=) | |
| X | g.74740888T>G | CA517466520 | NEXMIF | c.3669A>C (p.Thr1223=) | |
| X | g.74740889G>A | CA413665017 | NEXMIF | c.3668C>T (p.Thr1223Ile) | |
| X | g.74740889G>C | CA413665015 | NEXMIF | c.3668C>G (p.Thr1223Arg) | |
| X | g.74740889G= | CA2437590157 | NEXMIF | c.3668C= (p.Thr1223=) | |
| X | g.74740889G>T | CA413665016 | NEXMIF | c.3668C>A (p.Thr1223Lys) | dbSNP |
| X | g.74740890T>A | CA413665018 | NEXMIF | c.3667A>T (p.Thr1223Ser) | |
| X | g.74740890T>C | CA413665019 | NEXMIF | c.3667A>G (p.Thr1223Ala) | |
| X | g.74740890T>G | CA413665020 | NEXMIF | c.3667A>C (p.Thr1223Pro) | |
| X | g.74740891G>A | CA517466522 | NEXMIF | c.3666C>T (p.Ser1222=) | |
| X | g.74740891G>C | CA517466523 | NEXMIF | c.3666C>G (p.Ser1222=) | |
| X | g.74740891G>T | CA517466525 | NEXMIF | c.3666C>A (p.Ser1222=) | |
| X | g.74740892G>A | CA413665021 | NEXMIF | c.3665C>T (p.Ser1222Phe) | |
| X | g.74740892G>C | CA413665022 | NEXMIF | c.3665C>G (p.Ser1222Cys) | |
| X | g.74740892G>T | CA413665023 | NEXMIF | c.3665C>A (p.Ser1222Tyr) | |
| X | g.74740893A>C | CA413665024 | NEXMIF | c.3664T>G (p.Ser1222Ala) | |
| X | g.74740893A>G | CA413665025 | NEXMIF | c.3664T>C (p.Ser1222Pro) | |
| X | g.74740893A>T | CA413665026 | NEXMIF | c.3664T>A (p.Ser1222Thr) | |
| X | g.74740894C>A | CA413665027 | NEXMIF | c.3663G>T (p.Lys1221Asn) | |
| X | g.74740894C>G | CA413665028 | NEXMIF | c.3663G>C (p.Lys1221Asn) | |
| X | g.74740894C>T | CA517466530 | NEXMIF | c.3663G>A (p.Lys1221=) | |
| X | g.74740895T>A | CA413665030 | NEXMIF | c.3662A>T (p.Lys1221Met) | |
| X | g.74740895T>C | CA413665031 | NEXMIF | c.3662A>G (p.Lys1221Arg) | |
| X | g.74740895T>G | CA413665029 | NEXMIF | c.3662A>C (p.Lys1221Thr) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.74740895T= | CA2437590158 | NEXMIF | c.3662A= (p.Lys1221=) | |
| X | g.74740896T>A | CA413665032 | NEXMIF | c.3661A>T (p.Lys1221Ter) | |
| X | g.74740896T>C | CA413665033 | NEXMIF | c.3661A>G (p.Lys1221Glu) | |
| X | g.74740896T>G | CA413665034 | NEXMIF | c.3661A>C (p.Lys1221Gln) | |
| X | g.74740897A= | CA2437590159 | NEXMIF | c.3660T= (p.Pro1220=) | |
| X | g.74740897A>C | CA517466534 | NEXMIF | c.3660T>G (p.Pro1220=) | |
| X | g.74740897A>G | CA517466536 | NEXMIF | c.3660T>C (p.Pro1220=) | dbSNP |
| X | g.74740897A>T | CA517466535 | NEXMIF | c.3660T>A (p.Pro1220=) | |
| X | g.74740898G>A | CA413665035 | NEXMIF | c.3659C>T (p.Pro1220Leu) | gnomAD v4 COSMIC |
| X | g.74740898G>C | CA413665036 | NEXMIF | c.3659C>G (p.Pro1220Arg) | |
| X | g.74740898G>T | CA413665037 | NEXMIF | c.3659C>A (p.Pro1220His) | |
| X | g.74740899G>A | CA413665038 | NEXMIF | c.3658C>T (p.Pro1220Ser) | |
| X | g.74740899G>C | CA413665039 | NEXMIF | c.3658C>G (p.Pro1220Ala) | |
| X | g.74740899G= | CA2437590160 | NEXMIF | c.3658C= (p.Pro1220=) | |
| X | g.74740899G>T | CA413665041 | NEXMIF | c.3658C>A (p.Pro1220Thr) | dbSNP |
| X | g.74740900G>A | CA517466537 | NEXMIF | c.3657C>T (p.Val1219=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.74740900G>C | CA517466538 | NEXMIF | c.3657C>G (p.Val1219=) | gnomAD v4 |
| X | g.74740900G= | CA2437590161 | NEXMIF | c.3657C= (p.Val1219=) | |
| X | g.74740900G>T | CA517466539 | NEXMIF | c.3657C>A (p.Val1219=) | |
| X | g.74740901A= | CA2437590162 | NEXMIF | c.3656T= (p.Val1219=) | |
| X | g.74740901A>C | CA331301711 | NEXMIF | c.3656T>G (p.Val1219Gly) | dbSNP gnomAD v4 |
| X | g.74740901A>G | CA413665043 | NEXMIF | c.3656T>C (p.Val1219Ala) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.74740901A>T | CA413665045 | NEXMIF | c.3656T>A (p.Val1219Asp) | |
| 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) |