| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.74740748G>A | CA413664702 | NEXMIF | c.3809C>T (p.Ser1270Phe) | |
| X | g.74740748G>C | CA413664703 | NEXMIF | c.3809C>G (p.Ser1270Cys) | |
| X | g.74740748G>T | CA413664704 | NEXMIF | c.3809C>A (p.Ser1270Tyr) | |
| X | g.74740749A>C | CA413664705 | NEXMIF | c.3808T>G (p.Ser1270Ala) | |
| X | g.74740749A>G | CA413664706 | NEXMIF | c.3808T>C (p.Ser1270Pro) | gnomAD v4 |
| X | g.74740749A>T | CA413664707 | NEXMIF | c.3808T>A (p.Ser1270Thr) | ClinVar |
| X | g.74740750G>A | CA517466253 | NEXMIF | c.3807C>T (p.Ala1269=) | |
| X | g.74740750G>C | CA517466254 | NEXMIF | c.3807C>G (p.Ala1269=) | |
| X | g.74740750G>T | CA517466255 | NEXMIF | c.3807C>A (p.Ala1269=) | |
| X | g.74740751G>A | CA413664710 | NEXMIF | c.3806C>T (p.Ala1269Val) | |
| X | g.74740751G>C | CA413664709 | NEXMIF | c.3806C>G (p.Ala1269Gly) | |
| X | g.74740751G>T | CA413664708 | NEXMIF | c.3806C>A (p.Ala1269Asp) | |
| X | g.74740752C>A | CA413664711 | NEXMIF | c.3805G>T (p.Ala1269Ser) | |
| X | g.74740752C>G | CA413664712 | NEXMIF | c.3805G>C (p.Ala1269Pro) | |
| X | g.74740752C>T | CA413664713 | NEXMIF | c.3805G>A (p.Ala1269Thr) | ClinVar dbSNP |
| X | g.74740753C>A | CA413664714 | NEXMIF | c.3804G>T (p.Met1268Ile) | |
| X | g.74740753C>G | CA413664715 | NEXMIF | c.3804G>C (p.Met1268Ile) | |
| X | g.74740753C>T | CA413664716 | NEXMIF | c.3804G>A (p.Met1268Ile) | |
| X | g.74740754A>C | CA413664719 | NEXMIF | c.3803T>G (p.Met1268Arg) | |
| X | g.74740754A>G | CA413664717 | NEXMIF | c.3803T>C (p.Met1268Thr) | |
| X | g.74740754A>T | CA413664718 | NEXMIF | c.3803T>A (p.Met1268Lys) | |
| X | g.74740755T>A | CA413664720 | NEXMIF | c.3802A>T (p.Met1268Leu) | |
| X | g.74740755T>C | CA10454906 | NEXMIF | c.3802A>G (p.Met1268Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.74740755T>G | CA413664721 | NEXMIF | c.3802A>C (p.Met1268Leu) | dbSNP |
| X | g.74740755T= | CA2437590106 | NEXMIF | c.3802A= (p.Met1268=) | |
| X | g.74740756A>C | CA517466261 | NEXMIF | c.3801T>G (p.Pro1267=) | |
| X | g.74740756A>G | CA517466262 | NEXMIF | c.3801T>C (p.Pro1267=) | |
| X | g.74740756A>T | CA517466263 | NEXMIF | c.3801T>A (p.Pro1267=) | |
| X | g.74740756_74740757delinsAG | CA2437590107 | NEXMIF | c.3800_3801delinsCT (p.Pro1267=) | |
| X | g.74740757G>A | CA413664722 | NEXMIF | c.3800C>T (p.Pro1267Leu) | |
| X | g.74740757G>C | CA413664723 | NEXMIF | c.3800C>G (p.Pro1267Arg) | |
| X | g.74740757G>T | CA413664724 | NEXMIF | c.3800C>A (p.Pro1267His) | COSMIC |
| X | g.74740759del | CA891844472 | NEXMIF | c.3800del (p.Pro1267LeufsTer5) | ClinVar dbSNP |
| X | g.74740758G>A | CA413664725 | NEXMIF | c.3799C>T (p.Pro1267Ser) | |
| X | g.74740758G>C | CA413664726 | NEXMIF | c.3799C>G (p.Pro1267Ala) | gnomAD v4 |
| X | g.74740758G= | CA2437590108 | NEXMIF | c.3799C= (p.Pro1267=) | |
| X | g.74740758G>T | CA413664727 | NEXMIF | c.3799C>A (p.Pro1267Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.74740759G>A | CA207219 | NEXMIF | c.3798C>T (p.Gly1266=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.74740759G>C | CA517466267 | NEXMIF | c.3798C>G (p.Gly1266=) | |
| X | g.74740759G= | CA2437590109 | NEXMIF | c.3798C= (p.Gly1266=) | |
| X | g.74740759G>T | CA517466268 | NEXMIF | c.3798C>A (p.Gly1266=) | |
| X | g.74740760C>A | CA413664728 | NEXMIF | c.3797G>T (p.Gly1266Val) | |
| X | g.74740760C>G | CA413664729 | NEXMIF | c.3797G>C (p.Gly1266Ala) | |
| X | g.74740760C>T | CA413664730 | NEXMIF | c.3797G>A (p.Gly1266Asp) | ClinVar dbSNP gnomAD v4 |
| X | g.74740761dup | CA2695235567 | NEXMIF | c.3797dup (p.Met1268TyrfsTer28) | |
| X | g.74740761C>A | CA413664731 | NEXMIF | c.3796G>T (p.Gly1266Cys) | |
| X | g.74740761C>G | CA413664733 | NEXMIF | c.3796G>C (p.Gly1266Arg) | |
| X | g.74740761C>T | CA413664732 | NEXMIF | c.3796G>A (p.Gly1266Ser) | |
| X | g.74740762A= | CA2437590110 | NEXMIF | c.3795T= (p.Gly1265=) | |
| X | g.74740762A>C | CA517466272 | NEXMIF | c.3795T>G (p.Gly1265=) |