| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.146340306_146340314delinsCGCTATCCA | CA1589086876 | POU4F3 | c.879_887delinsCGCTATCCA (p.Phe293=) | |
| 5 | g.146340307G>A | CA361622890 | POU4F3 | c.880G>A (p.Ala294Thr) | |
| 5 | g.146340307G>C | CA361622892 | POU4F3 | c.880G>C (p.Ala294Pro) | |
| 5 | g.146340307G= | CA1589086878 | POU4F3 | c.880G= (p.Ala294=) | |
| 5 | g.146340307G>T | CA3491226 | POU4F3 | c.880G>T (p.Ala294Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.146340309_146340316del | CA254100 | POU4F3 | c.882_889del (p.Ile295ThrfsTer5) | ClinVar dbSNP |
| 5 | g.146340308C>A | CA361622898 | POU4F3 | c.881C>A (p.Ala294Asp) | |
| 5 | g.146340308C>G | CA361622899 | POU4F3 | c.881C>G (p.Ala294Gly) | |
| 5 | g.146340308C>T | CA361622902 | POU4F3 | c.881C>T (p.Ala294Val) | gnomAD v4 |
| 5 | g.146340309T>A | CA446919259 | POU4F3 | c.882T>A (p.Ala294=) | dbSNP |
| 5 | g.146340309T>C | CA446919260 | POU4F3 | c.882T>C (p.Ala294=) | gnomAD v4 |
| 5 | g.146340309T>G | CA446919261 | POU4F3 | c.882T>G (p.Ala294=) | |
| 5 | g.146340309T= | CA1589086879 | POU4F3 | c.882T= (p.Ala294=) | |
| 5 | g.146340310A>C | CA361622910 | POU4F3 | c.883A>C (p.Ile295Leu) | |
| 5 | g.146340310A>G | CA361622905 | POU4F3 | c.883A>G (p.Ile295Val) | gnomAD v4 COSMIC |
| 5 | g.146340310A>T | CA361622907 | POU4F3 | c.883A>T (p.Ile295Phe) | |
| 5 | g.146340311T>A | CA361622914 | POU4F3 | c.884T>A (p.Ile295Asn) | |
| 5 | g.146340311T>C | CA361622917 | POU4F3 | c.884T>C (p.Ile295Thr) | |
| 5 | g.146340311T>G | CA361622915 | POU4F3 | c.884T>G (p.Ile295Ser) | |
| 5 | g.146340312C>A | CA446919264 | POU4F3 | c.885C>A (p.Ile295=) | |
| 5 | g.146340312C>G | CA361622919 | POU4F3 | c.885C>G (p.Ile295Met) | |
| 5 | g.146340312C>T | CA446919266 | POU4F3 | c.885C>T (p.Ile295=) | |
| 5 | g.146340313C>A | CA361622922 | POU4F3 | c.886C>A (p.Gln296Lys) | |
| 5 | g.146340313C>G | CA361622925 | POU4F3 | c.886C>G (p.Gln296Glu) | |
| 5 | g.146340313C>T | CA361622928 | POU4F3 | c.886C>T (p.Gln296Ter) | ClinVar dbSNP gnomAD v4 |
| 5 | g.146340314A>C | CA361622931 | POU4F3 | c.887A>C (p.Gln296Pro) | |
| 5 | g.146340314A>G | CA361622934 | POU4F3 | c.887A>G (p.Gln296Arg) | |
| 5 | g.146340314A>T | CA361622936 | POU4F3 | c.887A>T (p.Gln296Leu) | |
| 5 | g.146340315G>A | CA446919268 | POU4F3 | c.888G>A (p.Gln296=) | |
| 5 | g.146340315G>C | CA361622939 | POU4F3 | c.888G>C (p.Gln296His) | |
| 5 | g.146340315G>T | CA361622941 | POU4F3 | c.888G>T (p.Gln296His) | |
| 5 | g.146340316C>A | CA361622945 | POU4F3 | c.889C>A (p.Pro297Thr) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.146340316C= | CA1589086880 | POU4F3 | c.889C= (p.Pro297=) | |
| 5 | g.146340316C>G | CA361622948 | POU4F3 | c.889C>G (p.Pro297Ala) | |
| 5 | g.146340316C>T | CA361622950 | POU4F3 | c.889C>T (p.Pro297Ser) | |
| 5 | g.146340317C>A | CA361622958 | POU4F3 | c.890C>A (p.Pro297Gln) | gnomAD v4 |
| 5 | g.146340317C>G | CA361622953 | POU4F3 | c.890C>G (p.Pro297Arg) | |
| 5 | g.146340317C>T | CA361622955 | POU4F3 | c.890C>T (p.Pro297Leu) | |
| 5 | g.146340318A= | CA1589086881 | POU4F3 | c.891A= (p.Pro297=) | |
| 5 | g.146340318A>C | CA446919273 | POU4F3 | c.891A>C (p.Pro297=) | |
| 5 | g.146340318A>G | CA3491227 | POU4F3 | c.891A>G (p.Pro297=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.146340318A>T | CA446919271 | POU4F3 | c.891A>T (p.Pro297=) | |
| 5 | g.146340319C>A | CA361622963 | POU4F3 | c.892C>A (p.Arg298Ser) | gnomAD v4 |
| 5 | g.146340319C= | CA1589086882 | POU4F3 | c.892C= (p.Arg298=) | |
| 5 | g.146340319C>G | CA361622965 | POU4F3 | c.892C>G (p.Arg298Gly) | |
| 5 | g.146340319C>T | CA361622967 | POU4F3 | c.892C>T (p.Arg298Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340320G>A | CA361622972 | POU4F3 | c.893G>A (p.Arg298His) | COSMIC |
| 5 | g.146340320G>C | CA361622974 | POU4F3 | c.893G>C (p.Arg298Pro) | |
| 5 | g.146340320G= | CA1589086883 | POU4F3 | c.893G= (p.Arg298=) | |
| 5 | g.146340320G>T | CA361622976 | POU4F3 | c.893G>T (p.Arg298Leu) | dbSNP |