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 |
|---|---|---|---|---|---|
| 20 | g.6079445_6079448dup | CA2695229289 | FERMT1 | c.1848_1851dup (p.Thr618GlyfsTer10) n.808_811dup c.1077_1080dup (p.Thr361GlyfsTer10) | |
| 20 | g.6079448C>A | CA408176165 | FERMT1 | c.1848G>T (p.Trp616Cys) n.808G>T c.1077G>T (p.Trp359Cys) | |
| 20 | g.6079448C= | CA2347794318 | FERMT1 | c.1848G= (p.Trp616=) n.808G= c.1077G= (p.Trp359=) | |
| 20 | g.6079448C>G | CA408176166 | FERMT1 | c.1848G>C (p.Trp616Cys) n.808G>C c.1077G>C (p.Trp359Cys) | |
| 20 | g.6079448C>T | CA357179 | FERMT1 | c.1848G>A (p.Trp616Ter) n.808G>A c.1077G>A (p.Trp359Ter) | ClinVar dbSNP |
| 20 | g.6079449C>A | CA408176167 | FERMT1 | c.1847G>T (p.Trp616Leu) n.807G>T c.1076G>T (p.Trp359Leu) | |
| 20 | g.6079449C>G | CA408176168 | FERMT1 | c.1847G>C (p.Trp616Ser) n.807G>C c.1076G>C (p.Trp359Ser) | |
| 20 | g.6079449C>T | CA408176169 | FERMT1 | c.1847G>A (p.Trp616Ter) n.807G>A c.1076G>A (p.Trp359Ter) | |
| 20 | g.6079450A>C | CA408176172 | FERMT1 | c.1846T>G (p.Trp616Gly) n.806T>G c.1075T>G (p.Trp359Gly) | |
| 20 | g.6079450A>G | CA408176170 | FERMT1 | c.1846T>C (p.Trp616Arg) n.806T>C c.1075T>C (p.Trp359Arg) | |
| 20 | g.6079450A>T | CA408176171 | FERMT1 | c.1846T>A (p.Trp616Arg) n.806T>A c.1075T>A (p.Trp359Arg) | |
| 20 | g.6079451G>A | CA509455403 | FERMT1 | c.1845C>T (p.Asn615=) n.805C>T c.1074C>T (p.Asn358=) | |
| 20 | g.6079451G>C | CA408176173 | FERMT1 | c.1845C>G (p.Asn615Lys) n.805C>G c.1074C>G (p.Asn358Lys) | |
| 20 | g.6079451G>T | CA408176174 | FERMT1 | c.1845C>A (p.Asn615Lys) n.805C>A c.1074C>A (p.Asn358Lys) | |
| 20 | g.6079452T>A | CA408176175 | FERMT1 | c.1844A>T (p.Asn615Ile) n.804A>T c.1073A>T (p.Asn358Ile) | |
| 20 | g.6079452T>C | CA408176176 | FERMT1 | c.1844A>G (p.Asn615Ser) n.804A>G c.1073A>G (p.Asn358Ser) | |
| 20 | g.6079452T>G | CA408176177 | FERMT1 | c.1844A>C (p.Asn615Thr) n.804A>C c.1073A>C (p.Asn358Thr) | |
| 20 | g.6079453T>A | CA408176180 | FERMT1 | c.1843A>T (p.Asn615Tyr) n.803A>T c.1072A>T (p.Asn358Tyr) | |
| 20 | g.6079453T>C | CA408176178 | FERMT1 | c.1843A>G (p.Asn615Asp) n.803A>G c.1072A>G (p.Asn358Asp) | |
| 20 | g.6079453T>G | CA408176179 | FERMT1 | c.1843A>C (p.Asn615His) n.803A>C c.1072A>C (p.Asn358His) | |
| 20 | g.6079454T>A | CA509455405 | FERMT1 | c.1842A>T (p.Val614=) n.802A>T c.1071A>T (p.Val357=) | |
| 20 | g.6079454T>C | CA509455406 | FERMT1 | c.1842A>G (p.Val614=) n.802A>G c.1071A>G (p.Val357=) | |
| 20 | g.6079454T>G | CA509455407 | FERMT1 | c.1842A>C (p.Val614=) n.802A>C c.1071A>C (p.Val357=) | |
| 20 | g.6079455A>C | CA408176181 | FERMT1 | c.1841T>G (p.Val614Gly) n.801T>G c.1070T>G (p.Val357Gly) | |
| 20 | g.6079455A>G | CA408176182 | FERMT1 | c.1841T>C (p.Val614Ala) n.801T>C c.1070T>C (p.Val357Ala) | |
| 20 | g.6079455A>T | CA408176183 | FERMT1 | c.1841T>A (p.Val614Glu) n.801T>A c.1070T>A (p.Val357Glu) | |
| 20 | g.6079456C>A | CA408176184 | FERMT1 | c.1840G>T (p.Val614Leu) n.800G>T c.1069G>T (p.Val357Leu) | |
| 20 | g.6079456C>G | CA408176185 | FERMT1 | c.1840G>C (p.Val614Leu) n.800G>C c.1069G>C (p.Val357Leu) | |
| 20 | g.6079456C>T | CA408176186 | FERMT1 | c.1840G>A (p.Val614Ile) n.800G>A c.1069G>A (p.Val357Ile) | |
| 20 | g.6079457A= | CA2347794319 | FERMT1 | c.1839T= (p.Asn613=) n.799T= c.1068T= (p.Asn356=) | |
| 20 | g.6079457A>C | CA408176187 | FERMT1 | c.1839T>G (p.Asn613Lys) n.799T>G c.1068T>G (p.Asn356Lys) | |
| 20 | g.6079457A>G | CA311211026 | FERMT1 | c.1839T>C (p.Asn613=) n.799T>C c.1068T>C (p.Asn356=) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.6079457A>T | CA408176188 | FERMT1 | c.1839T>A (p.Asn613Lys) n.799T>A c.1068T>A (p.Asn356Lys) | |
| 20 | g.6079458T>A | CA408176189 | FERMT1 | c.1838A>T (p.Asn613Ile) n.798A>T c.1067A>T (p.Asn356Ile) | |
| 20 | g.6079458T>C | CA408176190 | FERMT1 | c.1838A>G (p.Asn613Ser) n.798A>G c.1067A>G (p.Asn356Ser) | |
| 20 | g.6079458T>G | CA408176191 | FERMT1 | c.1838A>C (p.Asn613Thr) n.798A>C c.1067A>C (p.Asn356Thr) | |
| 20 | g.6079459T>A | CA408176192 | FERMT1 | c.1837A>T (p.Asn613Tyr) n.797A>T c.1066A>T (p.Asn356Tyr) | |
| 20 | g.6079459T>C | CA408176194 | FERMT1 | c.1837A>G (p.Asn613Asp) n.797A>G c.1066A>G (p.Asn356Asp) | |
| 20 | g.6079459T>G | CA408176193 | FERMT1 | c.1837A>C (p.Asn613His) n.797A>C c.1066A>C (p.Asn356His) | |
| 20 | g.6079460C>A | CA408176195 | FERMT1 | c.1836G>T (p.Trp612Cys) n.796G>T c.1065G>T (p.Trp355Cys) | gnomAD v4 |
| 20 | g.6079460C= | CA2347794320 | FERMT1 | c.1836G= (p.Trp612=) n.796G= c.1065G= (p.Trp355=) | |
| 20 | g.6079460C>G | CA408176197 | FERMT1 | c.1836G>C (p.Trp612Cys) n.796G>C c.1065G>C (p.Trp355Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.6079460C>T | CA408176196 | FERMT1 | c.1836G>A (p.Trp612Ter) n.796G>A c.1065G>A (p.Trp355Ter) | COSMIC |
| 20 | g.6079461C>A | CA408176198 | FERMT1 | c.1835G>T (p.Trp612Leu) n.795G>T c.1064G>T (p.Trp355Leu) | |
| 20 | g.6079461C>G | CA408176199 | FERMT1 | c.1835G>C (p.Trp612Ser) n.795G>C c.1064G>C (p.Trp355Ser) | |
| 20 | g.6079461C>T | CA408176200 | FERMT1 | c.1835G>A (p.Trp612Ter) n.795G>A c.1064G>A (p.Trp355Ter) | |
| 20 | g.6079462A>C | CA408176201 | FERMT1 | c.1834T>G (p.Trp612Gly) n.794T>G c.1063T>G (p.Trp355Gly) | |
| 20 | g.6079462A>G | CA408176202 | FERMT1 | c.1834T>C (p.Trp612Arg) n.794T>C c.1063T>C (p.Trp355Arg) | |
| 20 | g.6079462A>T | CA408176203 | FERMT1 | c.1834T>A (p.Trp612Arg) n.794T>A c.1063T>A (p.Trp355Arg) | |
| 20 | g.6079463C>A | CA408176204 | FERMT1 | c.1833G>T (p.Gln611His) n.793G>T c.1062G>T (p.Gln354His) |