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 |
|---|---|---|---|---|---|
| 15 | g.74417950G>A | CA393148121 | SEMA7A | c.392C>T (p.Thr131Ile) c.-104C>T (n.-104C>T) c.350C>T (p.Thr117Ile) | |
| 15 | g.74417950G>C | CA393148117 | SEMA7A | c.392C>G (p.Thr131Ser) c.-104C>G (n.-104C>G) c.350C>G (p.Thr117Ser) | |
| 15 | g.74417950G>T | CA393148119 | SEMA7A | c.392C>A (p.Thr131Asn) c.-104C>A (n.-104C>A) c.350C>A (p.Thr117Asn) | |
| 15 | g.74417951T>A | CA393148123 | SEMA7A | c.391A>T (p.Thr131Ser) c.-105A>T (n.-105A>T) c.349A>T (p.Thr117Ser) | |
| 15 | g.74417951T>C | CA393148124 | SEMA7A | c.391A>G (p.Thr131Ala) c.-105A>G (n.-105A>G) c.349A>G (p.Thr117Ala) | |
| 15 | g.74417951T>G | CA393148126 | SEMA7A | c.391A>C (p.Thr131Pro) c.-105A>C (n.-105A>C) c.349A>C (p.Thr117Pro) | |
| 15 | g.74417952G>A | CA7657267 | SEMA7A | c.390C>T (p.Ile130=) c.-106C>T (n.-106C>T) c.348C>T (p.Ile116=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74417952G>C | CA393148130 | SEMA7A | c.390C>G (p.Ile130Met) c.-106C>G (n.-106C>G) c.348C>G (p.Ile116Met) | |
| 15 | g.74417952G= | CA2187679228 | SEMA7A | c.390C= (p.Ile130=) c.-106C= (n.-106C=) c.348C= (p.Ile116=) | |
| 15 | g.74417952G>T | CA491212855 | SEMA7A | c.390C>A (p.Ile130=) c.-106C>A (n.-106C>A) c.348C>A (p.Ile116=) | gnomAD v4 |
| 15 | g.74417953A>C | CA393148136 | SEMA7A | c.389T>G (p.Ile130Ser) c.-107T>G (n.-107T>G) c.347T>G (p.Ile116Ser) | |
| 15 | g.74417953A>G | CA393148132 | SEMA7A | c.389T>C (p.Ile130Thr) c.-107T>C (n.-107T>C) c.347T>C (p.Ile116Thr) | |
| 15 | g.74417953A>T | CA393148134 | SEMA7A | c.389T>A (p.Ile130Asn) c.-107T>A (n.-107T>A) c.347T>A (p.Ile116Asn) | |
| 15 | g.74417954T>A | CA393148138 | SEMA7A | c.388A>T (p.Ile130Phe) c.-108A>T (n.-108A>T) c.346A>T (p.Ile116Phe) | |
| 15 | g.74417954T>C | CA393148140 | SEMA7A | c.388A>G (p.Ile130Val) c.-108A>G (n.-108A>G) c.346A>G (p.Ile116Val) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 15 | g.74417954T>G | CA393148141 | SEMA7A | c.388A>C (p.Ile130Leu) c.-108A>C (n.-108A>C) c.346A>C (p.Ile116Leu) | |
| 15 | g.74417954T= | CA2187679233 | SEMA7A | c.388A= (p.Ile130=) c.-108A= (n.-108A=) c.346A= (p.Ile116=) | |
| 15 | g.74417955G>A | CA491212856 | SEMA7A | c.387C>T (p.Tyr129=) c.-109C>T (n.-109C>T) c.345C>T (p.Tyr115=) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.74417955G>C | CA393148142 | SEMA7A | c.387C>G (p.Tyr129Ter) c.-109C>G (n.-109C>G) c.345C>G (p.Tyr115Ter) | |
| 15 | g.74417955G= | CA2187679236 | SEMA7A | c.387C= (p.Tyr129=) c.-109C= (n.-109C=) c.345C= (p.Tyr115=) | |
| 15 | g.74417955G>T | CA393148143 | SEMA7A | c.387C>A (p.Tyr129Ter) c.-109C>A (n.-109C>A) c.345C>A (p.Tyr115Ter) | |
| 15 | g.74417956T>A | CA393148145 | SEMA7A | c.386A>T (p.Tyr129Phe) c.-110A>T (n.-110A>T) c.344A>T (p.Tyr115Phe) | |
| 15 | g.74417956T>C | CA393148147 | SEMA7A | c.386A>G (p.Tyr129Cys) c.-110A>G (n.-110A>G) c.344A>G (p.Tyr115Cys) | gnomAD v4 |
| 15 | g.74417956T>G | CA393148148 | SEMA7A | c.386A>C (p.Tyr129Ser) c.-110A>C (n.-110A>C) c.344A>C (p.Tyr115Ser) | |
| 15 | g.74417957_74417971del | CA2629481764 | SEMA7A | c.373-1_386del c.-123-1_-110del c.331-1_344del | gnomAD v4 |
| 15 | g.74417957A= | CA2187679238 | SEMA7A | c.385T= (p.Tyr129=) c.-111T= (n.-111T=) c.343T= (p.Tyr115=) | |
| 15 | g.74417957A>C | CA393148151 | SEMA7A | c.385T>G (p.Tyr129Asp) c.-111T>G (n.-111T>G) c.343T>G (p.Tyr115Asp) | dbSNP gnomAD v4 |
| 15 | g.74417957A>G | CA393148152 | SEMA7A | c.385T>C (p.Tyr129His) c.-111T>C (n.-111T>C) c.343T>C (p.Tyr115His) | |
| 15 | g.74417957A>T | CA393148154 | SEMA7A | c.385T>A (p.Tyr129Asn) c.-111T>A (n.-111T>A) c.343T>A (p.Tyr115Asn) | |
| 15 | g.74417958G>A | CA491212860 | SEMA7A | c.384C>T (p.Asn128=) c.-112C>T (n.-112C>T) c.342C>T (p.Asn114=) | |
| 15 | g.74417958G>C | CA393148156 | SEMA7A | c.384C>G (p.Asn128Lys) c.-112C>G (n.-112C>G) c.342C>G (p.Asn114Lys) | |
| 15 | g.74417958G>T | CA393148158 | SEMA7A | c.384C>A (p.Asn128Lys) c.-112C>A (n.-112C>A) c.342C>A (p.Asn114Lys) | |
| 15 | g.74417959T>A | CA393148160 | SEMA7A | c.383A>T (p.Asn128Ile) c.-113A>T (n.-113A>T) c.341A>T (p.Asn114Ile) | |
| 15 | g.74417959T>C | CA7657268 | SEMA7A | c.383A>G (p.Asn128Ser) c.-113A>G (n.-113A>G) c.341A>G (p.Asn114Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.74417959T>G | CA393148163 | SEMA7A | c.383A>C (p.Asn128Thr) c.-113A>C (n.-113A>C) c.341A>C (p.Asn114Thr) | |
| 15 | g.74417959T= | CA2187679241 | SEMA7A | c.383A= (p.Asn128=) c.-113A= (n.-113A=) c.341A= (p.Asn114=) | |
| 15 | g.74417960T>A | CA393148166 | SEMA7A | c.382A>T (p.Asn128Tyr) c.-114A>T (n.-114A>T) c.340A>T (p.Asn114Tyr) | |
| 15 | g.74417960T>C | CA393148168 | SEMA7A | c.382A>G (p.Asn128Asp) c.-114A>G (n.-114A>G) c.340A>G (p.Asn114Asp) | |
| 15 | g.74417960T>G | CA393148169 | SEMA7A | c.382A>C (p.Asn128His) c.-114A>C (n.-114A>C) c.340A>C (p.Asn114His) | |
| 15 | g.74417961C>A | CA393148171 | SEMA7A | c.381G>T (p.Glu127Asp) c.-115G>T (n.-115G>T) c.339G>T (p.Glu113Asp) | |
| 15 | g.74417961C= | CA2187679244 | SEMA7A | c.381G= (p.Glu127=) c.-115G= (n.-115G=) c.339G= (p.Glu113=) | |
| 15 | g.74417961C>G | CA393148173 | SEMA7A | c.381G>C (p.Glu127Asp) c.-115G>C (n.-115G>C) c.339G>C (p.Glu113Asp) | |
| 15 | g.74417961C>T | CA491212862 | SEMA7A | c.381G>A (p.Glu127=) c.-115G>A (n.-115G>A) c.339G>A (p.Glu113=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74417962T>A | CA393148179 | SEMA7A | c.380A>T (p.Glu127Val) c.-116A>T (n.-116A>T) c.338A>T (p.Glu113Val) | |
| 15 | g.74417962T>C | CA393148177 | SEMA7A | c.380A>G (p.Glu127Gly) c.-116A>G (n.-116A>G) c.338A>G (p.Glu113Gly) | |
| 15 | g.74417962T>G | CA393148175 | SEMA7A | c.380A>C (p.Glu127Ala) c.-116A>C (n.-116A>C) c.338A>C (p.Glu113Ala) | |
| 15 | g.74417963C>A | CA393148181 | SEMA7A | c.379G>T (p.Glu127Ter) c.-117G>T (n.-117G>T) c.337G>T (p.Glu113Ter) | |
| 15 | g.74417963C= | CA2187679246 | SEMA7A | c.379G= (p.Glu127=) c.-117G= (n.-117G=) c.337G= (p.Glu113=) | |
| 15 | g.74417963C>G | CA393148184 | SEMA7A | c.379G>C (p.Glu127Gln) c.-117G>C (n.-117G>C) c.337G>C (p.Glu113Gln) | |
| 15 | g.74417963C>T | CA7657269 | SEMA7A | c.379G>A (p.Glu127Lys) c.-117G>A (n.-117G>A) c.337G>A (p.Glu113Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |