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 |
|---|---|---|---|---|---|
| 1 | g.12793940_12793948del | CA887924601 | PRAMEF1 | c.313_321del (p.Leu105_Asp107del) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.12793948T>A | CA338515034 | PRAMEF1 | c.321T>A (p.Asp107Glu) | |
| 1 | g.12793948T>C | CA606290 | PRAMEF1 | c.321T>C (p.Asp107=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.12793948T>G | CA338515037 | PRAMEF1 | c.321T>G (p.Asp107Glu) | |
| 1 | g.12793948T= | CA1140980791 | PRAMEF1 | c.321T= (p.Asp107=) | |
| 1 | g.12793949G>A | CA338515043 | PRAMEF1 | c.322G>A (p.Val108Ile) | |
| 1 | g.12793949G>C | CA338515046 | PRAMEF1 | c.322G>C (p.Val108Leu) | |
| 1 | g.12793949G= | CA1147432160 | PRAMEF1 | c.322G= (p.Val108=) | |
| 1 | g.12793949G>T | CA606291 | PRAMEF1 | c.322G>T (p.Val108Phe) | dbSNP ExAC gnomAD v2 COSMIC COSMIC |
| 1 | g.12793950T>A | CA338515053 | PRAMEF1 | c.323T>A (p.Val108Asp) | |
| 1 | g.12793950T>C | CA338515055 | PRAMEF1 | c.323T>C (p.Val108Ala) | dbSNP gnomAD v2 |
| 1 | g.12793950T>G | CA338515052 | PRAMEF1 | c.323T>G (p.Val108Gly) | |
| 1 | g.12793950T= | CA1154219768 | PRAMEF1 | c.323T= (p.Val108=) | |
| 1 | g.12793951T>A | CA416368854 | PRAMEF1 | c.324T>A (p.Val108=) | |
| 1 | g.12793951T>C | CA416368855 | PRAMEF1 | c.324T>C (p.Val108=) | |
| 1 | g.12793951T>G | CA416368857 | PRAMEF1 | c.324T>G (p.Val108=) | |
| 1 | g.12793952G>A | CA606293 | PRAMEF1 | c.325G>A (p.Asp109Asn) | dbSNP ExAC |
| 1 | g.12793952G>C | CA338515059 | PRAMEF1 | c.325G>C (p.Asp109His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.12793952G= | CA1143596018 | PRAMEF1 | c.325G= (p.Asp109=) | |
| 1 | g.12793952G>T | CA606292 | PRAMEF1 | c.325G>T (p.Asp109Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.12793953A= | CA1142098738 | PRAMEF1 | c.326A= (p.Asp109=) | |
| 1 | g.12793953A>C | CA606294 | PRAMEF1 | c.326A>C (p.Asp109Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.12793953A>G | CA338515063 | PRAMEF1 | c.326A>G (p.Asp109Gly) | gnomAD v4 |
| 1 | g.12793953A>T | CA338515065 | PRAMEF1 | c.326A>T (p.Asp109Val) | |
| 1 | g.12793954C>A | CA338515068 | PRAMEF1 | c.327C>A (p.Asp109Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.12793954C= | CA1154219778 | PRAMEF1 | c.327C= (p.Asp109=) | |
| 1 | g.12793954C>G | CA606296 | PRAMEF1 | c.327C>G (p.Asp109Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.12793954C>T | CA606295 | PRAMEF1 | c.327C>T (p.Asp109=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.12793955G>A | CA606297 | PRAMEF1 | c.328G>A (p.Glu110Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.12793955G>C | CA606298 | PRAMEF1 | c.328G>C (p.Glu110Gln) | dbSNP ExAC gnomAD v2 |
| 1 | g.12793955G= | CA1154219787 | PRAMEF1 | c.328G= (p.Glu110=) | |
| 1 | g.12793955G>T | CA338515078 | PRAMEF1 | c.328G>T (p.Glu110Ter) | dbSNP gnomAD v2 COSMIC COSMIC |
| 1 | g.12793956A= | CA1141003644 | PRAMEF1 | c.329A= (p.Glu110=) | |
| 1 | g.12793956A>C | CA338515080 | PRAMEF1 | c.329A>C (p.Glu110Ala) | |
| 1 | g.12793956A>G | CA606299 | PRAMEF1 | c.329A>G (p.Glu110Gly) | ClinVar dbSNP ExAC gnomAD v2 |
| 1 | g.12793956A>T | CA338515079 | PRAMEF1 | c.329A>T (p.Glu110Val) | |
| 1 | g.12793957G>A | CA416368864 | PRAMEF1 | c.330G>A (p.Glu110=) | COSMIC COSMIC |
| 1 | g.12793957G>C | CA606300 | PRAMEF1 | c.330G>C (p.Glu110Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.12793957G= | CA1154219801 | PRAMEF1 | c.330G= (p.Glu110=) | |
| 1 | g.12793957G>T | CA338515081 | PRAMEF1 | c.330G>T (p.Glu110Asp) | |
| 1 | g.12793958A>C | CA338515082 | PRAMEF1 | c.331A>C (p.Asn111His) | |
| 1 | g.12793958A>G | CA338515083 | PRAMEF1 | c.331A>G (p.Asn111Asp) | |
| 1 | g.12793958A>T | CA338515084 | PRAMEF1 | c.331A>T (p.Asn111Tyr) | |
| 1 | g.12793959A>C | CA338515086 | PRAMEF1 | c.332A>C (p.Asn111Thr) | |
| 1 | g.12793959A>G | CA338515088 | PRAMEF1 | c.332A>G (p.Asn111Ser) | |
| 1 | g.12793959A>T | CA338515090 | PRAMEF1 | c.332A>T (p.Asn111Ile) | |
| 1 | g.12793960T>A | CA338515093 | PRAMEF1 | c.333T>A (p.Asn111Lys) | COSMIC COSMIC |
| 1 | g.12793960T>C | CA416368871 | PRAMEF1 | c.333T>C (p.Asn111=) | |
| 1 | g.12793960T>G | CA338515095 | PRAMEF1 | c.333T>G (p.Asn111Lys) | |
| 1 | g.12793961T>A | CA338515098 | PRAMEF1 | c.334T>A (p.Phe112Ile) | |
| 1 | g.12793961T>C | CA338515101 | PRAMEF1 | c.334T>C (p.Phe112Leu) | |
| 1 | g.12793961T>G | CA338515103 | PRAMEF1 | c.334T>G (p.Phe112Val) | |
| 1 | g.12793962T>A | CA338515108 | PRAMEF1 | c.335T>A (p.Phe112Tyr) | gnomAD v4 |
| 1 | g.12793962T>C | CA338515110 | PRAMEF1 | c.335T>C (p.Phe112Ser) | |
| 1 | g.12793962T>G | CA338515106 | PRAMEF1 | c.335T>G (p.Phe112Cys) | |
| 1 | g.12793963C>A | CA338515112 | PRAMEF1 | c.336C>A (p.Phe112Leu) | dbSNP |
| 1 | g.12793963C= | CA1154219805 | PRAMEF1 | c.336C= (p.Phe112=) | |
| 1 | g.12793963C>G | CA338515115 | PRAMEF1 | c.336C>G (p.Phe112Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.12793963C>T | CA416368874 | PRAMEF1 | c.336C>T (p.Phe112=) | gnomAD v4 |
| 1 | g.12793964T>A | CA338515119 | PRAMEF1 | c.337T>A (p.Trp113Arg) | |
| 1 | g.12793964T>C | CA338515121 | PRAMEF1 | c.337T>C (p.Trp113Arg) | |
| 1 | g.12793964T>G | CA338515122 | PRAMEF1 | c.337T>G (p.Trp113Gly) | |
| 1 | g.12793965G>A | CA606301 | PRAMEF1 | c.338G>A (p.Trp113Ter) | dbSNP ExAC gnomAD v2 |
| 1 | g.12793965G>C | CA338515126 | PRAMEF1 | c.338G>C (p.Trp113Ser) | |
| 1 | g.12793965G= | CA1154219810 | PRAMEF1 | c.338G= (p.Trp113=) | |
| 1 | g.12793965G>T | CA338515124 | PRAMEF1 | c.338G>T (p.Trp113Leu) | COSMIC COSMIC |
| 1 | g.12793967del | CA2643371830 | PRAMEF1 | c.340del (p.Ala114ProfsTer?) | gnomAD v4 |
| 1 | g.12793966G>A | CA338515137 | PRAMEF1 | c.339G>A (p.Trp113Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.12793966G>C | CA338515138 | PRAMEF1 | c.339G>C (p.Trp113Cys) | |
| 1 | g.12793966G= | CA1154219813 | PRAMEF1 | c.339G= (p.Trp113=) | |
| 1 | g.12793966G>T | CA338515140 | PRAMEF1 | c.339G>T (p.Trp113Cys) | |
| 1 | g.12793967G>A | CA606303 | PRAMEF1 | c.340G>A (p.Ala114Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.12793967G>C | CA338515143 | PRAMEF1 | c.340G>C (p.Ala114Pro) | |
| 1 | g.12793967G= | CA1143806477 | PRAMEF1 | c.340G= (p.Ala114=) | |
| 1 | g.12793967G>T | CA606302 | PRAMEF1 | c.340G>T (p.Ala114Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.12793968C>A | CA338515150 | PRAMEF1 | c.341C>A (p.Ala114Asp) | |
| 1 | g.12793968C>G | CA338515145 | PRAMEF1 | c.341C>G (p.Ala114Gly) | |
| 1 | g.12793968C>T | CA338515148 | PRAMEF1 | c.341C>T (p.Ala114Val) | |
| 1 | g.12793969C>A | CA416368881 | PRAMEF1 | c.342C>A (p.Ala114=) | |
| 1 | g.12793969C= | CA1154219821 | PRAMEF1 | c.342C= (p.Ala114=) | |
| 1 | g.12793969C>G | CA416368882 | PRAMEF1 | c.342C>G (p.Ala114=) | |
| 1 | g.12793969C>T | CA416368883 | PRAMEF1 | c.342C>T (p.Ala114=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.12793970A>C | CA416368884 | PRAMEF1 | c.343A>C (p.Arg115=) | |
| 1 | g.12793970A>G | CA338515152 | PRAMEF1 | c.343A>G (p.Arg115Gly) | |
| 1 | g.12793970A>T | CA338515153 | PRAMEF1 | c.343A>T (p.Arg115Ter) | |
| 1 | g.12793971G>A | CA338515156 | PRAMEF1 | c.344G>A (p.Arg115Lys) | |
| 1 | g.12793971G>C | CA338515159 | PRAMEF1 | c.344G>C (p.Arg115Thr) | COSMIC COSMIC |
| 1 | g.12793971G= | CA1154219825 | PRAMEF1 | c.344G= (p.Arg115=) | |
| 1 | g.12793971G>T | CA606304 | PRAMEF1 | c.344G>T (p.Arg115Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.12793972A= | CA1154219855 | PRAMEF1 | c.345A= (p.Arg115=) | |
| 1 | g.12793972A>C | CA338515162 | PRAMEF1 | c.345A>C (p.Arg115Ser) | |
| 1 | g.12793972A>G | CA416368885 | PRAMEF1 | c.345A>G (p.Arg115=) | dbSNP |
| 1 | g.12793972A>T | CA338515165 | PRAMEF1 | c.345A>T (p.Arg115Ser) | |
| 1 | g.12793973T>A | CA338515168 | PRAMEF1 | c.346T>A (p.Trp116Arg) | |
| 1 | g.12793973T>C | CA338515171 | PRAMEF1 | c.346T>C (p.Trp116Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.12793973T>G | CA338515174 | PRAMEF1 | c.346T>G (p.Trp116Gly) | gnomAD v4 |
| 1 | g.12793973T= | CA1154219859 | PRAMEF1 | c.346T= (p.Trp116=) | |
| 1 | g.12793974G>A | CA338515177 | PRAMEF1 | c.347G>A (p.Trp116Ter) | |
| 1 | g.12793974G>C | CA338515178 | PRAMEF1 | c.347G>C (p.Trp116Ser) | gnomAD v4 |
| 1 | g.12793974G>T | CA338515181 | PRAMEF1 | c.347G>T (p.Trp116Leu) | |
| 1 | g.12793978_12793990del | CA2574220058 | PRAMEF1 | c.351_363del (p.Gly118CysfsTer26) | |
| 1 | g.12793975G>A | CA338515184 | PRAMEF1 | c.348G>A (p.Trp116Ter) | gnomAD v4 |
| 1 | g.12793975G>C | CA338515189 | PRAMEF1 | c.348G>C (p.Trp116Cys) | |
| 1 | g.12793975G>T | CA338515186 | PRAMEF1 | c.348G>T (p.Trp116Cys) | |
| 1 | g.12793976C>A | CA338515192 | PRAMEF1 | c.349C>A (p.Pro117Thr) | dbSNP gnomAD v4 |
| 1 | g.12793976C= | CA1141811837 | PRAMEF1 | c.349C= (p.Pro117=) | |
| 1 | g.12793976C>G | CA338515195 | PRAMEF1 | c.349C>G (p.Pro117Ala) | COSMIC COSMIC |
| 1 | g.12793976C>T | CA606305 | PRAMEF1 | c.349C>T (p.Pro117Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.12793977C>A | CA338515200 | PRAMEF1 | c.350C>A (p.Pro117His) | |
| 1 | g.12793977C>G | CA338515201 | PRAMEF1 | c.350C>G (p.Pro117Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.12793977C>T | CA338515204 | PRAMEF1 | c.350C>T (p.Pro117Leu) | gnomAD v4 |
| 1 | g.12793978T>A | CA416368892 | PRAMEF1 | c.351T>A (p.Pro117=) | |
| 1 | g.12793978T>C | CA416368893 | PRAMEF1 | c.351T>C (p.Pro117=) | |
| 1 | g.12793978T>G | CA416368894 | PRAMEF1 | c.351T>G (p.Pro117=) | |
| 1 | g.12793979G>A | CA338515206 | PRAMEF1 | c.352G>A (p.Gly118Arg) | |
| 1 | g.12793979G>C | CA338515209 | PRAMEF1 | c.352G>C (p.Gly118Arg) | |
| 1 | g.12793979G>T | CA338515212 | PRAMEF1 | c.352G>T (p.Gly118Ter) | |
| 1 | g.12793980G>A | CA338515214 | PRAMEF1 | c.353G>A (p.Gly118Glu) | COSMIC COSMIC |
| 1 | g.12793980G>C | CA606306 | PRAMEF1 | c.353G>C (p.Gly118Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.12793980G= | CA1148717456 | PRAMEF1 | c.353G= (p.Gly118=) | |
| 1 | g.12793980G>T | CA338515216 | PRAMEF1 | c.353G>T (p.Gly118Val) | |
| 1 | g.12793981A>C | CA416368900 | PRAMEF1 | c.354A>C (p.Gly118=) | |
| 1 | g.12793981A>G | CA416368903 | PRAMEF1 | c.354A>G (p.Gly118=) | |
| 1 | g.12793981A>T | CA416368901 | PRAMEF1 | c.354A>T (p.Gly118=) | |
| 1 | g.12793982G>A | CA606307 | PRAMEF1 | c.355G>A (p.Ala119Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.12793982G>C | CA338515222 | PRAMEF1 | c.355G>C (p.Ala119Pro) | dbSNP |
| 1 | g.12793982G= | CA1154219867 | PRAMEF1 | c.355G= (p.Ala119=) | |
| 1 | g.12793982G>T | CA338515219 | PRAMEF1 | c.355G>T (p.Ala119Ser) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.12793983C>A | CA338515226 | PRAMEF1 | c.356C>A (p.Ala119Asp) | |
| 1 | g.12793983C>G | CA338515227 | PRAMEF1 | c.356C>G (p.Ala119Gly) | |
| 1 | g.12793983C>T | CA338515230 | PRAMEF1 | c.356C>T (p.Ala119Val) | gnomAD v4 |
| 1 | g.12793984C>A | CA416368910 | PRAMEF1 | c.357C>A (p.Ala119=) | COSMIC COSMIC |
| 1 | g.12793984C= | CA1154219872 | PRAMEF1 | c.357C= (p.Ala119=) | |
| 1 | g.12793984C>G | CA416368912 | PRAMEF1 | c.357C>G (p.Ala119=) | |
| 1 | g.12793984C>T | CA416368913 | PRAMEF1 | c.357C>T (p.Ala119=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.12793985T>A | CA338515233 | PRAMEF1 | c.358T>A (p.Trp120Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.12793985T>C | CA338515235 | PRAMEF1 | c.358T>C (p.Trp120Arg) | dbSNP gnomAD v2 |
| 1 | g.12793985T>G | CA338515237 | PRAMEF1 | c.358T>G (p.Trp120Gly) | dbSNP |
| 1 | g.12793985T= | CA1154219876 | PRAMEF1 | c.358T= (p.Trp120=) | |
| 1 | g.12793986G>A | CA338515240 | PRAMEF1 | c.359G>A (p.Trp120Ter) | |
| 1 | g.12793986G>C | CA338515241 | PRAMEF1 | c.359G>C (p.Trp120Ser) | |
| 1 | g.12793986G>T | CA338515244 | PRAMEF1 | c.359G>T (p.Trp120Leu) | |
| 1 | g.12793987G>A | CA338515245 | PRAMEF1 | c.360G>A (p.Trp120Ter) | |
| 1 | g.12793987G>C | CA338515246 | PRAMEF1 | c.360G>C (p.Trp120Cys) | |
| 1 | g.12793987G= | CA1154219879 | PRAMEF1 | c.360G= (p.Trp120=) | |
| 1 | g.12793987G>T | CA338515247 | PRAMEF1 | c.360G>T (p.Trp120Cys) | dbSNP |
| 1 | g.12793988G>A | CA338515252 | PRAMEF1 | c.361G>A (p.Ala121Thr) | gnomAD v4 |
| 1 | g.12793988G>C | CA338515251 | PRAMEF1 | c.361G>C (p.Ala121Pro) | |
| 1 | g.12793988G>T | CA338515250 | PRAMEF1 | c.361G>T (p.Ala121Ser) | |
| 1 | g.12793989C>A | CA338515254 | PRAMEF1 | c.362C>A (p.Ala121Asp) | |
| 1 | g.12793989C>G | CA338515256 | PRAMEF1 | c.362C>G (p.Ala121Gly) | |
| 1 | g.12793989C>T | CA338515255 | PRAMEF1 | c.362C>T (p.Ala121Val) | |
| 1 | g.12793990C>A | CA416368923 | PRAMEF1 | c.363C>A (p.Ala121=) | |
| 1 | g.12793990C= | CA1154219881 | PRAMEF1 | c.363C= (p.Ala121=) | |
| 1 | g.12793990C>G | CA416368929 | PRAMEF1 | c.363C>G (p.Ala121=) | dbSNP |
| 1 | g.12793990C>T | CA606308 | PRAMEF1 | c.363C>T (p.Ala121=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.12793991C>A | CA338515261 | PRAMEF1 | c.364C>A (p.Leu122Met) | |
| 1 | g.12793991C= | CA1148422818 | PRAMEF1 | c.364C= (p.Leu122=) | |
| 1 | g.12793991C>G | CA606309 | PRAMEF1 | c.364C>G (p.Leu122Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.12793991C>T | CA416368930 | PRAMEF1 | c.364C>T (p.Leu122=) | |
| 1 | g.12793992T>A | CA338515267 | PRAMEF1 | c.365T>A (p.Leu122Gln) | |
| 1 | g.12793992T>C | CA338515269 | PRAMEF1 | c.365T>C (p.Leu122Pro) | |
| 1 | g.12793992T>G | CA338515272 | PRAMEF1 | c.365T>G (p.Leu122Arg) | |
| 1 | g.12793993G>A | CA416368931 | PRAMEF1 | c.366G>A (p.Leu122=) | |
| 1 | g.12793993G>C | CA416368932 | PRAMEF1 | c.366G>C (p.Leu122=) | |
| 1 | g.12793993G>T | CA416368933 | PRAMEF1 | c.366G>T (p.Leu122=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.12793994T>A | CA338515275 | PRAMEF1 | c.367T>A (p.Ser123Thr) | |
| 1 | g.12793994T>C | CA338515278 | PRAMEF1 | c.367T>C (p.Ser123Pro) | |
| 1 | g.12793994T>G | CA338515280 | PRAMEF1 | c.367T>G (p.Ser123Ala) | |
| 1 | g.12793995C>A | CA338515283 | PRAMEF1 | c.368C>A (p.Ser123Tyr) | |
| 1 | g.12793995C>G | CA338515286 | PRAMEF1 | c.368C>G (p.Ser123Cys) | |
| 1 | g.12793995C>T | CA338515288 | PRAMEF1 | c.368C>T (p.Ser123Phe) | |
| 1 | g.12793996C>A | CA416368937 | PRAMEF1 | c.369C>A (p.Ser123=) | |
| 1 | g.12793996C>G | CA416368938 | PRAMEF1 | c.369C>G (p.Ser123=) | |
| 1 | g.12793996C>T | CA416368939 | PRAMEF1 | c.369C>T (p.Ser123=) | |
| 1 | g.12793997T>A | CA338515298 | PRAMEF1 | c.370T>A (p.Cys124Ser) | gnomAD v4 |
| 1 | g.12793997T>C | CA338515292 | PRAMEF1 | c.370T>C (p.Cys124Arg) | dbSNP |
| 1 | g.12793997T>G | CA338515295 | PRAMEF1 | c.370T>G (p.Cys124Gly) | |
| 1 | g.12793997T= | CA1154219895 | PRAMEF1 | c.370T= (p.Cys124=) | |
| 1 | g.12793998G>A | CA338515301 | PRAMEF1 | c.371G>A (p.Cys124Tyr) | |
| 1 | g.12793998G>C | CA338515303 | PRAMEF1 | c.371G>C (p.Cys124Ser) | |
| 1 | g.12793998G>T | CA338515306 | PRAMEF1 | c.371G>T (p.Cys124Phe) | |
| 1 | g.12793999C>A | CA338515310 | PRAMEF1 | c.372C>A (p.Cys124Ter) | |
| 1 | g.12793999C= | CA1154219900 | PRAMEF1 | c.372C= (p.Cys124=) | |
| 1 | g.12793999C>G | CA338515311 | PRAMEF1 | c.372C>G (p.Cys124Trp) | |
| 1 | g.12793999C>T | CA606310 | PRAMEF1 | c.372C>T (p.Cys124=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.12794000T>A | CA338515316 | PRAMEF1 | c.373T>A (p.Phe125Ile) | |
| 1 | g.12794000T>C | CA338515318 | PRAMEF1 | c.373T>C (p.Phe125Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.12794000T>G | CA338515320 | PRAMEF1 | c.373T>G (p.Phe125Val) | |
| 1 | g.12794000T= | CA1154219906 | PRAMEF1 | c.373T= (p.Phe125=) | |
| 1 | g.12794001T>A | CA338515324 | PRAMEF1 | c.374T>A (p.Phe125Tyr) | |
| 1 | g.12794001T>C | CA338515327 | PRAMEF1 | c.374T>C (p.Phe125Ser) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.12794001T>G | CA338515328 | PRAMEF1 | c.374T>G (p.Phe125Cys) | |
| 1 | g.12794002C>A | CA338515334 | PRAMEF1 | c.375C>A (p.Phe125Leu) | |
| 1 | g.12794002C= | CA1154219909 | PRAMEF1 | c.375C= (p.Phe125=) | |
| 1 | g.12794002C>G | CA338515332 | PRAMEF1 | c.375C>G (p.Phe125Leu) | gnomAD v4 |
| 1 | g.12794002C>T | CA416368945 | PRAMEF1 | c.375C>T (p.Phe125=) | dbSNP |
| 1 | g.12794003C>A | CA338515337 | PRAMEF1 | c.376C>A (p.Pro126Thr) | |
| 1 | g.12794003C= | CA1154219913 | PRAMEF1 | c.376C= (p.Pro126=) | |
| 1 | g.12794003C>G | CA338515340 | PRAMEF1 | c.376C>G (p.Pro126Ala) | gnomAD v4 |
| 1 | g.12794003C>T | CA606311 | PRAMEF1 | c.376C>T (p.Pro126Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.12794004C>A | CA338515343 | PRAMEF1 | c.377C>A (p.Pro126Gln) | |
| 1 | g.12794004C>G | CA338515346 | PRAMEF1 | c.377C>G (p.Pro126Arg) | |
| 1 | g.12794004C>T | CA338515347 | PRAMEF1 | c.377C>T (p.Pro126Leu) | |
| 1 | g.12794005A>C | CA416368949 | PRAMEF1 | c.378A>C (p.Pro126=) | |
| 1 | g.12794005A>G | CA416368951 | PRAMEF1 | c.378A>G (p.Pro126=) | gnomAD v4 |
| 1 | g.12794005A>T | CA416368952 | PRAMEF1 | c.378A>T (p.Pro126=) | |
| 1 | g.12794006G>A | CA338515354 | PRAMEF1 | c.379G>A (p.Glu127Lys) | |
| 1 | g.12794006G>C | CA338515351 | PRAMEF1 | c.379G>C (p.Glu127Gln) | |
| 1 | g.12794006G>T | CA338515353 | PRAMEF1 | c.379G>T (p.Glu127Ter) | |
| 1 | g.12794007A>C | CA338515358 | PRAMEF1 | c.380A>C (p.Glu127Ala) | |
| 1 | g.12794007A>G | CA338515361 | PRAMEF1 | c.380A>G (p.Glu127Gly) | |
| 1 | g.12794007A>T | CA338515363 | PRAMEF1 | c.380A>T (p.Glu127Val) | |
| 1 | g.12794008G>A | CA416368955 | PRAMEF1 | c.381G>A (p.Glu127=) | gnomAD v4 |
| 1 | g.12794008G>C | CA606312 | PRAMEF1 | c.381G>C (p.Glu127Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.12794008G= | CA1148225185 | PRAMEF1 | c.381G= (p.Glu127=) | |
| 1 | g.12794008G>T | CA338515367 | PRAMEF1 | c.381G>T (p.Glu127Asp) | COSMIC COSMIC |
| 1 | g.12794009A= | CA1139849758 | PRAMEF1 | c.382A= (p.Thr128=) | |
| 1 | g.12794009A>C | CA338515373 | PRAMEF1 | c.382A>C (p.Thr128Pro) | |
| 1 | g.12794009A>G | CA606314 | PRAMEF1 | c.382A>G (p.Thr128Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.12794009A>T | CA606313 | PRAMEF1 | c.382A>T (p.Thr128Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.12794010C>A | CA338515376 | PRAMEF1 | c.383C>A (p.Thr128Asn) | |
| 1 | g.12794010C= | CA1154219924 | PRAMEF1 | c.383C= (p.Thr128=) | |
| 1 | g.12794010C>G | CA338515379 | PRAMEF1 | c.383C>G (p.Thr128Ser) | |
| 1 | g.12794010C>T | CA338515381 | PRAMEF1 | c.383C>T (p.Thr128Ile) | dbSNP |
| 1 | g.12794011C>A | CA416368958 | PRAMEF1 | c.384C>A (p.Thr128=) | |
| 1 | g.12794011C>G | CA416368960 | PRAMEF1 | c.384C>G (p.Thr128=) | |
| 1 | g.12794011C>T | CA416368962 | PRAMEF1 | c.384C>T (p.Thr128=) | gnomAD v4 |
| 1 | g.12794012A>C | CA338515382 | PRAMEF1 | c.385A>C (p.Thr129Pro) | |
| 1 | g.12794012A>G | CA338515384 | PRAMEF1 | c.385A>G (p.Thr129Ala) | |
| 1 | g.12794012A>T | CA338515386 | PRAMEF1 | c.385A>T (p.Thr129Ser) | |
| 1 | g.12794013C>A | CA338515389 | PRAMEF1 | c.386C>A (p.Thr129Lys) | dbSNP gnomAD v4 |
| 1 | g.12794013C= | CA1143381591 | PRAMEF1 | c.386C= (p.Thr129=) | |
| 1 | g.12794013C>G | CA338515392 | PRAMEF1 | c.386C>G (p.Thr129Arg) | dbSNP gnomAD v2 |
| 1 | g.12794013C>T | CA606315 | PRAMEF1 | c.386C>T (p.Thr129Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.12794014G>A | CA416368968 | PRAMEF1 | c.387G>A (p.Thr129=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.12794014G>C | CA606316 | PRAMEF1 | c.387G>C (p.Thr129=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.12794014G= | CA1145078026 | PRAMEF1 | c.387G= (p.Thr129=) | |
| 1 | g.12794014G>T | CA416368969 | PRAMEF1 | c.387G>T (p.Thr129=) | |
| 1 | g.12794015A>C | CA338515397 | PRAMEF1 | c.388A>C (p.Ser130Arg) | |
| 1 | g.12794015A>G | CA338515399 | PRAMEF1 | c.388A>G (p.Ser130Gly) | |
| 1 | g.12794015A>T | CA338515402 | PRAMEF1 | c.388A>T (p.Ser130Cys) | |
| 1 | g.12794016G>A | CA338515410 | PRAMEF1 | c.389G>A (p.Ser130Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.12794016G>C | CA338515406 | PRAMEF1 | c.389G>C (p.Ser130Thr) | |
| 1 | g.12794016G= | CA1154219936 | PRAMEF1 | c.389G= (p.Ser130=) | |
| 1 | g.12794016G>T | CA338515407 | PRAMEF1 | c.389G>T (p.Ser130Ile) | |
| 1 | g.12794017T>A | CA338515412 | PRAMEF1 | c.390T>A (p.Ser130Arg) | |
| 1 | g.12794017T>C | CA606317 | PRAMEF1 | c.390T>C (p.Ser130=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.12794017T>G | CA338515416 | PRAMEF1 | c.390T>G (p.Ser130Arg) | |
| 1 | g.12794017T= | CA1154219940 | PRAMEF1 | c.390T= (p.Ser130=) | |
| 1 | g.12794018A>C | CA338515417 | PRAMEF1 | c.391A>C (p.Lys131Gln) | |
| 1 | g.12794018A>G | CA338515418 | PRAMEF1 | c.391A>G (p.Lys131Glu) | |
| 1 | g.12794018A>T | CA338515419 | PRAMEF1 | c.391A>T (p.Lys131Ter) | |
| 1 | g.12794019A>C | CA338515420 | PRAMEF1 | c.392A>C (p.Lys131Thr) | |
| 1 | g.12794019A>G | CA338515421 | PRAMEF1 | c.392A>G (p.Lys131Arg) | |
| 1 | g.12794019A>T | CA338515422 | PRAMEF1 | c.392A>T (p.Lys131Met) | |
| 1 | g.12794020G>A | CA606318 | PRAMEF1 | c.393G>A (p.Lys131=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.12794020G>C | CA338515425 | PRAMEF1 | c.393G>C (p.Lys131Asn) | |
| 1 | g.12794020G= | CA1146092972 | PRAMEF1 | c.393G= (p.Lys131=) | |
| 1 | g.12794020G>T | CA338515427 | PRAMEF1 | c.393G>T (p.Lys131Asn) | gnomAD v4 |
| 1 | g.12794021A>C | CA416368983 | PRAMEF1 | c.394A>C (p.Arg132=) | |
| 1 | g.12794021A>G | CA338515431 | PRAMEF1 | c.394A>G (p.Arg132Gly) | |
| 1 | g.12794021A>T | CA338515432 | PRAMEF1 | c.394A>T (p.Arg132Trp) | |
| 1 | g.12794022G>A | CA606319 | PRAMEF1 | c.395G>A (p.Arg132Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.12794022G>C | CA338515436 | PRAMEF1 | c.395G>C (p.Arg132Thr) | |
| 1 | g.12794022G= | CA1147616765 | PRAMEF1 | c.395G= (p.Arg132=) | |
| 1 | g.12794022G>T | CA338515434 | PRAMEF1 | c.395G>T (p.Arg132Met) | |
| 1 | g.12794023G>A | CA606322 | PRAMEF1 | c.396G>A (p.Arg132=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.12794023G>C | CA338515442 | PRAMEF1 | c.396G>C (p.Arg132Ser) | |
| 1 | g.12794023G= | CA1154219948 | PRAMEF1 | c.396G= (p.Arg132=) | |
| 1 | g.12794023G>T | CA606320 | PRAMEF1 | c.396G>T (p.Arg132Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.12794023_12794024delinsGC | CA1154219951 | PRAMEF1 | c.396_397delinsGC (p.Arg132=) | |
| 1 | g.12794024del | CA606321 | PRAMEF1 | c.397del (p.Gln133ArgfsTer15) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.12794024C>A | CA338515445 | PRAMEF1 | c.397C>A (p.Gln133Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.12794024C= | CA1154219960 | PRAMEF1 | c.397C= (p.Gln133=) | |
| 1 | g.12794024C>G | CA338515446 | PRAMEF1 | c.397C>G (p.Gln133Glu) | |
| 1 | g.12794024C>T | CA338515447 | PRAMEF1 | c.397C>T (p.Gln133Ter) | |
| 1 | g.12794025A>C | CA338515451 | PRAMEF1 | c.398A>C (p.Gln133Pro) | |
| 1 | g.12794025A>G | CA338515452 | PRAMEF1 | c.398A>G (p.Gln133Arg) | |
| 1 | g.12794025A>T | CA338515454 | PRAMEF1 | c.398A>T (p.Gln133Leu) | |
| 1 | g.12794026G>A | CA416368999 | PRAMEF1 | c.399G>A (p.Gln133=) | |
| 1 | g.12794026G>C | CA338515456 | PRAMEF1 | c.399G>C (p.Gln133His) | |
| 1 | g.12794026G>T | CA338515458 | PRAMEF1 | c.399G>T (p.Gln133His) | |
| 1 | g.12794027A= | CA1154219966 | PRAMEF1 | c.400A= (p.Thr134=) | |
| 1 | g.12794027A>C | CA338515465 | PRAMEF1 | c.400A>C (p.Thr134Pro) | |
| 1 | g.12794027A>G | CA338515463 | PRAMEF1 | c.400A>G (p.Thr134Ala) | dbSNP gnomAD v4 |
| 1 | g.12794027A>T | CA338515461 | PRAMEF1 | c.400A>T (p.Thr134Ser) | |
| 1 | g.12794028C>A | CA338515471 | PRAMEF1 | c.401C>A (p.Thr134Lys) | |
| 1 | g.12794028C>G | CA338515467 | PRAMEF1 | c.401C>G (p.Thr134Arg) | gnomAD v4 |
| 1 | g.12794028C>T | CA338515469 | PRAMEF1 | c.401C>T (p.Thr134Ile) | gnomAD v4 |
| 1 | g.12794029A= | CA1154219971 | PRAMEF1 | c.402A= (p.Thr134=) | |
| 1 | g.12794029A>C | CA416369002 | PRAMEF1 | c.402A>C (p.Thr134=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.12794029A>G | CA606323 | PRAMEF1 | c.402A>G (p.Thr134=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.12794029A>T | CA416369003 | PRAMEF1 | c.402A>T (p.Thr134=) | |
| 1 | g.12794030G>A | CA338515474 | PRAMEF1 | c.403G>A (p.Ala135Thr) | |
| 1 | g.12794030G>C | CA338515476 | PRAMEF1 | c.403G>C (p.Ala135Pro) | |
| 1 | g.12794030G>T | CA338515478 | PRAMEF1 | c.403G>T (p.Ala135Ser) | |
| 1 | g.12794031C>A | CA338515480 | PRAMEF1 | c.404C>A (p.Ala135Glu) | |
| 1 | g.12794031C>G | CA338515482 | PRAMEF1 | c.404C>G (p.Ala135Gly) | |
| 1 | g.12794031C>T | CA338515484 | PRAMEF1 | c.404C>T (p.Ala135Val) | gnomAD v4 |
| 1 | g.12794032A>C | CA416369006 | PRAMEF1 | c.405A>C (p.Ala135=) | |
| 1 | g.12794032A>G | CA416369008 | PRAMEF1 | c.405A>G (p.Ala135=) | COSMIC COSMIC |
| 1 | g.12794032A>T | CA416369009 | PRAMEF1 | c.405A>T (p.Ala135=) | |
| 1 | g.12794033G>A | CA338515486 | PRAMEF1 | c.406G>A (p.Glu136Lys) | |
| 1 | g.12794033G>C | CA338515488 | PRAMEF1 | c.406G>C (p.Glu136Gln) | |
| 1 | g.12794033G>T | CA338515490 | PRAMEF1 | c.406G>T (p.Glu136Ter) | |
| 1 | g.12794034A>C | CA338515496 | PRAMEF1 | c.407A>C (p.Glu136Ala) | |
| 1 | g.12794034A>G | CA338515494 | PRAMEF1 | c.407A>G (p.Glu136Gly) | |
| 1 | g.12794034A>T | CA338515493 | PRAMEF1 | c.407A>T (p.Glu136Val) | |
| 1 | g.12794035G>A | CA416369014 | PRAMEF1 | c.408G>A (p.Glu136=) | |
| 1 | g.12794035G>C | CA338515498 | PRAMEF1 | c.408G>C (p.Glu136Asp) | |
| 1 | g.12794035G>T | CA338515500 | PRAMEF1 | c.408G>T (p.Glu136Asp) | |
| 1 | g.12794036G>A | CA338515502 | PRAMEF1 | c.409G>A (p.Asp137Asn) | gnomAD v4 |
| 1 | g.12794036G>C | CA338515504 | PRAMEF1 | c.409G>C (p.Asp137His) | |
| 1 | g.12794036G>T | CA338515506 | PRAMEF1 | c.409G>T (p.Asp137Tyr) | dbSNP |
| 1 | g.12794037A= | CA1154219977 | PRAMEF1 | c.410A= (p.Asp137=) | |
| 1 | g.12794037A>C | CA338515509 | PRAMEF1 | c.410A>C (p.Asp137Ala) | |
| 1 | g.12794037A>G | CA338515510 | PRAMEF1 | c.410A>G (p.Asp137Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.12794037A>T | CA338515512 | PRAMEF1 | c.410A>T (p.Asp137Val) | |
| 1 | g.12794038C>A | CA338515514 | PRAMEF1 | c.411C>A (p.Asp137Glu) | |
| 1 | g.12794038C>G | CA338515515 | PRAMEF1 | c.411C>G (p.Asp137Glu) | gnomAD v4 |
| 1 | g.12794038C>T | CA416369016 | PRAMEF1 | c.411C>T (p.Asp137=) | gnomAD v4 |
| 1 | g.12794039T>A | CA338515517 | PRAMEF1 | c.412T>A (p.Cys138Ser) | gnomAD v4 |
| 1 | g.12794039T>C | CA606324 | PRAMEF1 | c.412T>C (p.Cys138Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.12794039T>G | CA338515519 | PRAMEF1 | c.412T>G (p.Cys138Gly) | |
| 1 | g.12794039T= | CA1140971838 | PRAMEF1 | c.412T= (p.Cys138=) | |
| 1 | g.12794040G>A | CA338515524 | PRAMEF1 | c.413G>A (p.Cys138Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.12794040G>C | CA338515525 | PRAMEF1 | c.413G>C (p.Cys138Ser) | |
| 1 | g.12794040G= | CA1154219984 | PRAMEF1 | c.413G= (p.Cys138=) | |
| 1 | g.12794040G>T | CA338515522 | PRAMEF1 | c.413G>T (p.Cys138Phe) | |
| 1 | g.12794041T>A | CA338515528 | PRAMEF1 | c.414T>A (p.Cys138Ter) | |
| 1 | g.12794041T>C | CA416369025 | PRAMEF1 | c.414T>C (p.Cys138=) | |
| 1 | g.12794041T>G | CA338515530 | PRAMEF1 | c.414T>G (p.Cys138Trp) | |
| 1 | g.12794042C>A | CA338515532 | PRAMEF1 | c.415C>A (p.Pro139Thr) | |
| 1 | g.12794042C= | CA1154220059 | PRAMEF1 | c.415C= (p.Pro139=) | |
| 1 | g.12794042C>G | CA338515536 | PRAMEF1 | c.415C>G (p.Pro139Ala) | dbSNP |
| 1 | g.12794042C>T | CA338515534 | PRAMEF1 | c.415C>T (p.Pro139Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.12794043C>A | CA338515538 | PRAMEF1 | c.416C>A (p.Pro139Gln) | |
| 1 | g.12794043C= | CA1154220062 | PRAMEF1 | c.416C= (p.Pro139=) | |
| 1 | g.12794043C>G | CA338515540 | PRAMEF1 | c.416C>G (p.Pro139Arg) | |
| 1 | g.12794043C>T | CA338515541 | PRAMEF1 | c.416C>T (p.Pro139Leu) | dbSNP |
| 1 | g.12794044A>C | CA416369029 | PRAMEF1 | c.417A>C (p.Pro139=) | |
| 1 | g.12794044A>G | CA416369030 | PRAMEF1 | c.417A>G (p.Pro139=) | gnomAD v4 |
| 1 | g.12794044A>T | CA416369032 | PRAMEF1 | c.417A>T (p.Pro139=) | |
| 1 | g.12794045dup | CA416369033 | PRAMEF1 | c.418dup (p.Arg140LysfsTer23) | COSMIC COSMIC |
| 1 | g.12794045A>C | CA416369034 | PRAMEF1 | c.418A>C (p.Arg140=) | |
| 1 | g.12794045A>G | CA338515544 | PRAMEF1 | c.418A>G (p.Arg140Gly) | |
| 1 | g.12794045A>T | CA338515546 | PRAMEF1 | c.418A>T (p.Arg140Trp) | |
| 1 | g.12794046G>A | CA338515548 | PRAMEF1 | c.419G>A (p.Arg140Lys) | gnomAD v4 |
| 1 | g.12794046G>C | CA338515550 | PRAMEF1 | c.419G>C (p.Arg140Thr) | |
| 1 | g.12794046G>T | CA338515552 | PRAMEF1 | c.419G>T (p.Arg140Met) | |
| 1 | g.12794047G>A | CA416369036 | PRAMEF1 | c.420G>A (p.Arg140=) | dbSNP gnomAD v4 |
| 1 | g.12794047G>C | CA338515554 | PRAMEF1 | c.420G>C (p.Arg140Ser) | |
| 1 | g.12794047G= | CA1154220067 | PRAMEF1 | c.420G= (p.Arg140=) | |
| 1 | g.12794047G>T | CA338515556 | PRAMEF1 | c.420G>T (p.Arg140Ser) | |
| 1 | g.12794047_12794049delinsGAT | CA1154220070 | PRAMEF1 | c.420_422delinsGAT (p.Arg140=) | |
| 1 | g.12794048A= | CA1154220078 | PRAMEF1 | c.421A= (p.Met141=) | |
| 1 | g.12794048A>C | CA338515558 | PRAMEF1 | c.421A>C (p.Met141Leu) | |
| 1 | g.12794048A>G | CA338515560 | PRAMEF1 | c.421A>G (p.Met141Val) | dbSNP |
| 1 | g.12794048A>T | CA338515561 | PRAMEF1 | c.421A>T (p.Met141Leu) | |
| 1 | g.12794048_12794049del | CA521457083 | PRAMEF1 | c.421_422del (p.Met141GlyfsTer21) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |