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.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=) | |
| 7 | g.120788616T>G | CA457393482 | TSPAN12 | c.894A>C (p.Thr298=) c.873A>C (n.873A>C) c.819A>C (p.Thr273=) | |
| 7 | g.120788616T= | CA1738876109 | TSPAN12 | c.894A= (p.Thr298=) c.873A= (n.873A=) c.819A= (p.Thr273=) | |
| 7 | g.120788617G>A | CA4453782 | TSPAN12 | c.893C>T (p.Thr298Ile) c.872C>T (n.872C>T) c.818C>T (p.Thr273Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.120788617G>C | CA369133206 | TSPAN12 | c.893C>G (p.Thr298Arg) c.872C>G (n.872C>G) c.818C>G (p.Thr273Arg) | |
| 7 | g.120788617G= | CA1738876113 | TSPAN12 | c.893C= (p.Thr298=) c.872C= (n.872C=) c.818C= (p.Thr273=) | |
| 7 | g.120788617G>T | CA369133207 | TSPAN12 | c.893C>A (p.Thr298Lys) c.872C>A (n.872C>A) c.818C>A (p.Thr273Lys) | |
| 7 | g.120788618T>A | CA369133208 | TSPAN12 | c.892A>T (p.Thr298Ser) c.871A>T (n.871A>T) c.817A>T (p.Thr273Ser) | |
| 7 | g.120788618T>C | CA369133210 | TSPAN12 | c.892A>G (p.Thr298Ala) c.871A>G (n.871A>G) c.817A>G (p.Thr273Ala) | |
| 7 | g.120788618T>G | CA369133209 | TSPAN12 | c.892A>C (p.Thr298Pro) c.871A>C (n.871A>C) c.817A>C (p.Thr273Pro) | |
| 7 | g.120788619A>C | CA369133211 | TSPAN12 | c.891T>G (p.Asn297Lys) c.870T>G (n.870T>G) c.816T>G (p.Asn272Lys) | |
| 7 | g.120788619A>G | CA457393484 | TSPAN12 | c.891T>C (p.Asn297=) c.870T>C (n.870T>C) c.816T>C (p.Asn272=) | |
| 7 | g.120788619A>T | CA369133212 | TSPAN12 | c.891T>A (p.Asn297Lys) c.870T>A (n.870T>A) c.816T>A (p.Asn272Lys) | |
| 7 | g.120788620T>A | CA369133213 | TSPAN12 | c.890A>T (p.Asn297Ile) c.869A>T (n.869A>T) c.815A>T (p.Asn272Ile) | |
| 7 | g.120788620T>C | CA369133214 | TSPAN12 | c.890A>G (p.Asn297Ser) c.869A>G (n.869A>G) c.815A>G (p.Asn272Ser) | |
| 7 | g.120788620T>G | CA369133215 | TSPAN12 | c.890A>C (p.Asn297Thr) c.869A>C (n.869A>C) c.815A>C (p.Asn272Thr) | |
| 7 | g.120788621T>A | CA369133216 | TSPAN12 | c.889A>T (p.Asn297Tyr) c.868A>T (n.868A>T) c.814A>T (p.Asn272Tyr) | |
| 7 | g.120788621T>C | CA369133217 | TSPAN12 | c.889A>G (p.Asn297Asp) c.868A>G (n.868A>G) c.814A>G (p.Asn272Asp) | |
| 7 | g.120788621T>G | CA4453783 | TSPAN12 | c.889A>C (p.Asn297His) c.868A>C (n.868A>C) c.814A>C (p.Asn272His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.120788621T= | CA1738876118 | TSPAN12 | c.889A= (p.Asn297=) c.868A= (n.868A=) c.814A= (p.Asn272=) | |
| 7 | g.120788622A>C | CA369133218 | TSPAN12 | c.888T>G (p.Phe296Leu) c.867T>G (n.867T>G) c.813T>G (p.Phe271Leu) | |
| 7 | g.120788622A>G | CA457393485 | TSPAN12 | c.888T>C (p.Phe296=) c.867T>C (n.867T>C) c.813T>C (p.Phe271=) | |
| 7 | g.120788622A>T | CA369133219 | TSPAN12 | c.888T>A (p.Phe296Leu) c.867T>A (n.867T>A) c.813T>A (p.Phe271Leu) | |
| 7 | g.120788623A>C | CA369133221 | TSPAN12 | c.887T>G (p.Phe296Cys) c.866T>G (n.866T>G) c.812T>G (p.Phe271Cys) | |
| 7 | g.120788623A>G | CA369133222 | TSPAN12 | c.887T>C (p.Phe296Ser) c.866T>C (n.866T>C) c.812T>C (p.Phe271Ser) | |
| 7 | g.120788623A>T | CA369133220 | TSPAN12 | c.887T>A (p.Phe296Tyr) c.866T>A (n.866T>A) c.812T>A (p.Phe271Tyr) | |
| 7 | g.120788624A>C | CA369133225 | TSPAN12 | c.886T>G (p.Phe296Val) c.865T>G (n.865T>G) c.811T>G (p.Phe271Val) | |
| 7 | g.120788624A>G | CA369133223 | TSPAN12 | c.886T>C (p.Phe296Leu) c.865T>C (n.865T>C) c.811T>C (p.Phe271Leu) |