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 |
|---|---|---|---|---|---|
| 7 | g.120788602_120788604del | CA4453778 | TSPAN12 | c.910_912del (p.Glu304del) c.889_891del (n.889_891del) c.835_837del (p.Glu279del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.120788602T>A | CA369133168 | TSPAN12 | c.908A>T (p.Glu303Val) c.887A>T (n.887A>T) c.833A>T (p.Glu278Val) | |
| 7 | g.120788602T>C | CA369133169 | TSPAN12 | c.908A>G (p.Glu303Gly) c.887A>G (n.887A>G) c.833A>G (p.Glu278Gly) | |
| 7 | g.120788602T>G | CA369133170 | TSPAN12 | c.908A>C (p.Glu303Ala) c.887A>C (n.887A>C) c.833A>C (p.Glu278Ala) | |
| 7 | g.120788603C>A | CA369133171 | TSPAN12 | c.907G>T (p.Glu303Ter) c.886G>T (n.886G>T) c.832G>T (p.Glu278Ter) | |
| 7 | g.120788603C= | CA1738876093 | TSPAN12 | c.907G= (p.Glu303=) c.886G= (n.886G=) c.832G= (p.Glu278=) | |
| 7 | g.120788603C>G | CA369133172 | TSPAN12 | c.907G>C (p.Glu303Gln) c.886G>C (n.886G>C) c.832G>C (p.Glu278Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.120788603C>T | CA369133173 | TSPAN12 | c.907G>A (p.Glu303Lys) c.886G>A (n.886G>A) c.832G>A (p.Glu278Lys) | |
| 7 | g.120788604C>A | CA369133174 | TSPAN12 | c.906G>T (p.Met302Ile) c.885G>T (n.885G>T) c.831G>T (p.Met277Ile) | |
| 7 | g.120788604C= | CA1738876096 | TSPAN12 | c.906G= (p.Met302=) c.885G= (n.885G=) c.831G= (p.Met277=) | |
| 7 | g.120788604C>G | CA369133175 | TSPAN12 | c.906G>C (p.Met302Ile) c.885G>C (n.885G>C) c.831G>C (p.Met277Ile) | |
| 7 | g.120788604C>T | CA369133176 | TSPAN12 | c.906G>A (p.Met302Ile) c.885G>A (n.885G>A) c.831G>A (p.Met277Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.120788605A>C | CA369133177 | TSPAN12 | c.905T>G (p.Met302Arg) c.884T>G (n.884T>G) c.830T>G (p.Met277Arg) | ClinVar gnomAD v4 |
| 7 | g.120788605A>G | CA369133178 | TSPAN12 | c.905T>C (p.Met302Thr) c.884T>C (n.884T>C) c.830T>C (p.Met277Thr) | gnomAD v4 |
| 7 | g.120788605A>T | CA369133179 | TSPAN12 | c.905T>A (p.Met302Lys) c.884T>A (n.884T>A) c.830T>A (p.Met277Lys) | |
| 7 | g.120788606T>A | CA369133182 | TSPAN12 | c.904A>T (p.Met302Leu) c.883A>T (n.883A>T) c.829A>T (p.Met277Leu) | gnomAD v4 |
| 7 | g.120788606T>C | CA369133181 | TSPAN12 | c.904A>G (p.Met302Val) c.883A>G (n.883A>G) c.829A>G (p.Met277Val) | |
| 7 | g.120788606T>G | CA369133180 | TSPAN12 | c.904A>C (p.Met302Leu) c.883A>C (n.883A>C) c.829A>C (p.Met277Leu) | |
| 7 | g.120788607C>A | CA369133183 | TSPAN12 | c.903G>T (p.Glu301Asp) c.882G>T (n.882G>T) c.828G>T (p.Glu276Asp) | |
| 7 | g.120788607C>G | CA369133184 | TSPAN12 | c.903G>C (p.Glu301Asp) c.882G>C (n.882G>C) c.828G>C (p.Glu276Asp) | |
| 7 | g.120788607C>T | CA457393477 | TSPAN12 | c.903G>A (p.Glu301=) c.882G>A (n.882G>A) c.828G>A (p.Glu276=) | gnomAD v4 |
| 7 | g.120788608T>A | CA369133185 | TSPAN12 | c.902A>T (p.Glu301Val) c.881A>T (n.881A>T) c.827A>T (p.Glu276Val) | |
| 7 | g.120788608T>C | CA369133186 | TSPAN12 | c.902A>G (p.Glu301Gly) c.881A>G (n.881A>G) c.827A>G (p.Glu276Gly) | |
| 7 | g.120788608T>G | CA369133187 | TSPAN12 | c.902A>C (p.Glu301Ala) c.881A>C (n.881A>C) c.827A>C (p.Glu276Ala) | |
| 7 | g.120788609C>A | CA369133188 | TSPAN12 | c.901G>T (p.Glu301Ter) c.880G>T (n.880G>T) c.826G>T (p.Glu276Ter) | |
| 7 | g.120788609C>G | CA369133189 | TSPAN12 | c.901G>C (p.Glu301Gln) c.880G>C (n.880G>C) c.826G>C (p.Glu276Gln) | |
| 7 | g.120788609C>T | CA369133190 | TSPAN12 | c.901G>A (p.Glu301Lys) c.880G>A (n.880G>A) c.826G>A (p.Glu276Lys) | gnomAD v4 COSMIC |
| 7 | g.120788610A>C | CA369133191 | TSPAN12 | c.900T>G (p.Phe300Leu) c.879T>G (n.879T>G) c.825T>G (p.Phe275Leu) | gnomAD v4 |
| 7 | g.120788610A>G | CA457393480 | TSPAN12 | c.900T>C (p.Phe300=) c.879T>C (n.879T>C) c.825T>C (p.Phe275=) | |
| 7 | g.120788610A>T | CA369133192 | TSPAN12 | c.900T>A (p.Phe300Leu) c.879T>A (n.879T>A) c.825T>A (p.Phe275Leu) | |
| 7 | g.120788612dup | CA2684641443 | TSPAN12 | c.900dup (p.Glu301Ter) c.879dup (n.879dup) c.825dup (p.Glu276Ter) | gnomAD v4 |
| 7 | g.120788611A>C | CA369133193 | TSPAN12 | c.899T>G (p.Phe300Cys) c.878T>G (n.878T>G) c.824T>G (p.Phe275Cys) | |
| 7 | g.120788611A>G | CA369133194 | TSPAN12 | c.899T>C (p.Phe300Ser) c.878T>C (n.878T>C) c.824T>C (p.Phe275Ser) | |
| 7 | g.120788611A>T | CA369133195 | TSPAN12 | c.899T>A (p.Phe300Tyr) c.878T>A (n.878T>A) c.824T>A (p.Phe275Tyr) | |
| 7 | g.120788612A= | CA1738876099 | TSPAN12 | c.898T= (p.Phe300=) c.877T= (n.877T=) c.823T= (p.Phe275=) | |
| 7 | g.120788612A>C | CA369133197 | TSPAN12 | c.898T>G (p.Phe300Val) c.877T>G (n.877T>G) c.823T>G (p.Phe275Val) | dbSNP |
| 7 | g.120788612A>G | CA369133198 | TSPAN12 | c.898T>C (p.Phe300Leu) c.877T>C (n.877T>C) c.823T>C (p.Phe275Leu) | |
| 7 | g.120788612A>T | CA369133196 | TSPAN12 | c.898T>A (p.Phe300Ile) c.877T>A (n.877T>A) c.823T>A (p.Phe275Ile) | |
| 7 | g.120788613G>A | CA457393481 | TSPAN12 | c.897C>T (p.His299=) c.876C>T (n.876C>T) c.822C>T (p.His274=) | |
| 7 | g.120788613G>C | CA369133199 | TSPAN12 | c.897C>G (p.His299Gln) c.876C>G (n.876C>G) c.822C>G (p.His274Gln) | |
| 7 | g.120788613G= | CA1738876103 | TSPAN12 | c.897C= (p.His299=) c.876C= (n.876C=) c.822C= (p.His274=) | |
| 7 | g.120788613G>T | CA4453780 | TSPAN12 | c.897C>A (p.His299Gln) c.876C>A (n.876C>A) c.822C>A (p.His274Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.120788614T>A | CA369133200 | TSPAN12 | c.896A>T (p.His299Leu) c.875A>T (n.875A>T) c.821A>T (p.His274Leu) | |
| 7 | g.120788614T>C | CA369133201 | TSPAN12 | c.896A>G (p.His299Arg) c.875A>G (n.875A>G) c.821A>G (p.His274Arg) | |
| 7 | g.120788614T>G | CA369133202 | TSPAN12 | c.896A>C (p.His299Pro) c.875A>C (n.875A>C) c.821A>C (p.His274Pro) | |
| 7 | g.120788615G>A | CA369133203 | TSPAN12 | c.895C>T (p.His299Tyr) c.874C>T (n.874C>T) c.820C>T (p.His274Tyr) | |
| 7 | g.120788615G>C | CA369133204 | TSPAN12 | c.895C>G (p.His299Asp) c.874C>G (n.874C>G) c.820C>G (p.His274Asp) | |
| 7 | g.120788615G>T | CA369133205 | TSPAN12 | c.895C>A (p.His299Asn) c.874C>A (n.874C>A) c.820C>A (p.His274Asn) | |
| 7 | g.120788616T>A | CA4453781 | TSPAN12 | c.894A>T (p.Thr298=) c.873A>T (n.873A>T) c.819A>T (p.Thr273=) | dbSNP ExAC gnomAD v2 |
| 7 | g.120788616T>C | CA457393483 | TSPAN12 | c.894A>G (p.Thr298=) c.873A>G (n.873A>G) c.819A>G (p.Thr273=) |