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.74417945G>A | CA491212842 | SEMA7A | c.397C>T (p.Leu133=) c.-99C>T (n.-99C>T) c.355C>T (p.Leu119=) | gnomAD v4 |
| 15 | g.74417945G>C | CA393148100 | SEMA7A | c.397C>G (p.Leu133Val) c.-99C>G (n.-99C>G) c.355C>G (p.Leu119Val) | dbSNP |
| 15 | g.74417945G= | CA2187679223 | SEMA7A | c.397C= (p.Leu133=) c.-99C= (n.-99C=) c.355C= (p.Leu119=) | |
| 15 | g.74417945G>T | CA393148102 | SEMA7A | c.397C>A (p.Leu133Met) c.-99C>A (n.-99C>A) c.355C>A (p.Leu119Met) | |
| 15 | g.74417946G>A | CA491212845 | SEMA7A | c.396C>T (p.Leu132=) c.-100C>T (n.-100C>T) c.354C>T (p.Leu118=) | |
| 15 | g.74417946G>C | CA491212846 | SEMA7A | c.396C>G (p.Leu132=) c.-100C>G (n.-100C>G) c.354C>G (p.Leu118=) | |
| 15 | g.74417946G= | CA2187679225 | SEMA7A | c.396C= (p.Leu132=) c.-100C= (n.-100C=) c.354C= (p.Leu118=) | |
| 15 | g.74417946G>T | CA7657266 | SEMA7A | c.396C>A (p.Leu132=) c.-100C>A (n.-100C>A) c.354C>A (p.Leu118=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.74417947A>C | CA393148106 | SEMA7A | c.395T>G (p.Leu132Arg) c.-101T>G (n.-101T>G) c.353T>G (p.Leu118Arg) | |
| 15 | g.74417947A>G | CA393148107 | SEMA7A | c.395T>C (p.Leu132Pro) c.-101T>C (n.-101T>C) c.353T>C (p.Leu118Pro) | |
| 15 | g.74417947A>T | CA393148109 | SEMA7A | c.395T>A (p.Leu132His) c.-101T>A (n.-101T>A) c.353T>A (p.Leu118His) | |
| 15 | g.74417948G>A | CA393148110 | SEMA7A | c.394C>T (p.Leu132Phe) c.-102C>T (n.-102C>T) c.352C>T (p.Leu118Phe) | COSMIC |
| 15 | g.74417948G>C | CA393148113 | SEMA7A | c.394C>G (p.Leu132Val) c.-102C>G (n.-102C>G) c.352C>G (p.Leu118Val) | |
| 15 | g.74417948G>T | CA393148115 | SEMA7A | c.394C>A (p.Leu132Ile) c.-102C>A (n.-102C>A) c.352C>A (p.Leu118Ile) | COSMIC |
| 15 | g.74417949A>C | CA491212848 | SEMA7A | c.393T>G (p.Thr131=) c.-103T>G (n.-103T>G) c.351T>G (p.Thr117=) | |
| 15 | g.74417949A>G | CA491212849 | SEMA7A | c.393T>C (p.Thr131=) c.-103T>C (n.-103T>C) c.351T>C (p.Thr117=) | |
| 15 | g.74417949A>T | CA491212851 | SEMA7A | c.393T>A (p.Thr131=) c.-103T>A (n.-103T>A) c.351T>A (p.Thr117=) | |
| 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) |