Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.80172163C>A | CA491684731 | FAH | n.796-851C>A c.621C>A (p.Gly207=) n.2235C>A c.411C>A (p.Gly137=) n.549C>A | dbSNP gnomAD v2 gnomAD v4 |
15 | g.80172163C= | CA2190338403 | FAH | n.796-851C= c.621C= (p.Gly207=) n.2235C= c.411C= (p.Gly137=) n.549C= | |
15 | g.80172163C>G | CA491684733 | FAH | n.796-851C>G c.621C>G (p.Gly207=) n.2235C>G c.411C>G (p.Gly137=) n.549C>G | |
15 | g.80172163C>T | CA491684736 | FAH | n.796-851C>T c.621C>T (p.Gly207=) n.2235C>T c.411C>T (p.Gly137=) n.549C>T | ClinVar dbSNP |
15 | g.80172164C>A | CA393620435 | FAH | n.796-850C>A c.622C>A (p.Pro208Thr) n.2236C>A c.412C>A (p.Pro138Thr) n.550C>A | |
15 | g.80172164C= | CA2190338404 | FAH | n.796-850C= c.622C= (p.Pro208=) n.2236C= c.412C= (p.Pro138=) n.550C= | |
15 | g.80172164C>G | CA393620436 | FAH | n.796-850C>G c.622C>G (p.Pro208Ala) n.2236C>G c.412C>G (p.Pro138Ala) n.550C>G | |
15 | g.80172164C>T | CA7691288 | FAH | n.796-850C>T c.622C>T (p.Pro208Ser) n.2236C>T c.412C>T (p.Pro138Ser) n.550C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80172165C>A | CA393620439 | FAH | n.796-849C>A c.623C>A (p.Pro208His) n.2237C>A c.413C>A (p.Pro138His) n.551C>A | |
15 | g.80172165C= | CA2190338405 | FAH | n.796-849C= c.623C= (p.Pro208=) n.2237C= c.413C= (p.Pro138=) n.551C= | |
15 | g.80172165C>G | CA393620438 | FAH | n.796-849C>G c.623C>G (p.Pro208Arg) n.2237C>G c.413C>G (p.Pro138Arg) n.551C>G | dbSNP gnomAD v2 gnomAD v4 |
15 | g.80172165C>T | CA393620437 | FAH | n.796-849C>T c.623C>T (p.Pro208Leu) n.2237C>T c.413C>T (p.Pro138Leu) n.551C>T | dbSNP gnomAD v2 gnomAD v4 |
15 | g.80172166T>A | CA491684749 | FAH | n.796-848T>A c.624T>A (p.Pro208=) n.2238T>A c.414T>A (p.Pro138=) n.552T>A | |
15 | g.80172166T>C | CA491684752 | FAH | n.796-848T>C c.624T>C (p.Pro208=) n.2238T>C c.414T>C (p.Pro138=) n.552T>C | |
15 | g.80172166T>G | CA491684751 | FAH | n.796-848T>G c.624T>G (p.Pro208=) n.2238T>G c.414T>G (p.Pro138=) n.552T>G | |
15 | g.80172167G>A | CA393620440 | FAH | n.796-847G>A c.625G>A (p.Gly209Arg) n.2239G>A c.415G>A (p.Gly139Arg) n.553G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80172167G>C | CA393620441 | FAH | n.796-847G>C c.625G>C (p.Gly209Arg) n.2239G>C c.415G>C (p.Gly139Arg) n.553G>C | |
15 | g.80172167G= | CA2190338406 | FAH | n.796-847G= c.625G= (p.Gly209=) n.2239G= c.415G= (p.Gly139=) n.553G= | |
15 | g.80172167G>T | CA393620442 | FAH | n.796-847G>T c.625G>T (p.Gly209Ter) n.2239G>T c.415G>T (p.Gly139Ter) n.553G>T | |
15 | g.80172168G>A | CA393620443 | FAH | n.796-846G>A c.626G>A (p.Gly209Glu) n.2240G>A c.416G>A (p.Gly139Glu) n.554G>A | dbSNP |
15 | g.80172168G>C | CA393620444 | FAH | n.796-846G>C c.626G>C (p.Gly209Ala) n.2240G>C c.416G>C (p.Gly139Ala) n.554G>C | |
15 | g.80172168G= | CA2190338407 | FAH | n.796-846G= c.626G= (p.Gly209=) n.2240G= c.416G= (p.Gly139=) n.554G= | |
15 | g.80172168G>T | CA393620445 | FAH | n.796-846G>T c.626G>T (p.Gly209Val) n.2240G>T c.416G>T (p.Gly139Val) n.554G>T | |
15 | g.80172169A>C | CA491684765 | FAH | n.796-845A>C c.627A>C (p.Gly209=) n.2241A>C c.417A>C (p.Gly139=) n.555A>C | |
15 | g.80172169A>G | CA491684768 | FAH | n.796-845A>G c.627A>G (p.Gly209=) n.2241A>G c.417A>G (p.Gly139=) n.555A>G | |
15 | g.80172169A>T | CA491684770 | FAH | n.796-845A>T c.627A>T (p.Gly209=) n.2241A>T c.417A>T (p.Gly139=) n.555A>T | |
15 | g.80172170A>C | CA393620446 | FAH | n.796-844A>C c.628A>C (p.Asn210His) n.2242A>C c.418A>C (p.Asn140His) n.556A>C | |
15 | g.80172170A>G | CA393620447 | FAH | n.796-844A>G c.628A>G (p.Asn210Asp) n.2242A>G c.418A>G (p.Asn140Asp) n.556A>G | |
15 | g.80172170A>T | CA393620448 | FAH | n.796-844A>T c.628A>T (p.Asn210Tyr) n.2242A>T c.418A>T (p.Asn140Tyr) n.556A>T | |
15 | g.80172171A= | CA2190338408 | FAH | n.796-843A= c.629A= (p.Asn210=) n.2243A= c.419A= (p.Asn140=) n.557A= | |
15 | g.80172171A>C | CA393620449 | FAH | n.796-843A>C c.629A>C (p.Asn210Thr) n.2243A>C c.419A>C (p.Asn140Thr) n.557A>C | |
15 | g.80172171A>G | CA393620450 | FAH | n.796-843A>G c.629A>G (p.Asn210Ser) n.2243A>G c.419A>G (p.Asn140Ser) n.557A>G | dbSNP |
15 | g.80172171A>T | CA393620451 | FAH | n.796-843A>T c.629A>T (p.Asn210Ile) n.2243A>T c.419A>T (p.Asn140Ile) n.557A>T | |
15 | g.80172172C>A | CA393620452 | FAH | n.796-842C>A c.630C>A (p.Asn210Lys) n.2244C>A c.420C>A (p.Asn140Lys) n.558C>A | |
15 | g.80172172C>G | CA393620453 | FAH | n.796-842C>G c.630C>G (p.Asn210Lys) n.2244C>G c.420C>G (p.Asn140Lys) n.558C>G | |
15 | g.80172172C>T | CA491684787 | FAH | n.796-842C>T c.630C>T (p.Asn210=) n.2244C>T c.420C>T (p.Asn140=) n.558C>T | |
15 | g.80172173A>C | CA491684790 | FAH | n.796-841A>C c.631A>C (p.Arg211=) n.2245A>C c.421A>C (p.Arg141=) n.559A>C | |
15 | g.80172173A>G | CA393620454 | FAH | n.796-841A>G c.631A>G (p.Arg211Gly) n.2245A>G c.421A>G (p.Arg141Gly) n.559A>G | |
15 | g.80172173A>T | CA393620455 | FAH | n.796-841A>T c.631A>T (p.Arg211Ter) n.2245A>T c.421A>T (p.Arg141Ter) n.559A>T | |
15 | g.80172174G>A | CA393620456 | FAH | n.796-840G>A c.632G>A (p.Arg211Lys) n.2246G>A c.422G>A (p.Arg141Lys) n.560G>A | gnomAD v4 |
15 | g.80172174G>C | CA274028687 | FAH | n.796-840G>C c.632G>C (p.Arg211Thr) n.2246G>C c.422G>C (p.Arg141Thr) n.560G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80172174G= | CA2190338409 | FAH | n.796-840G= c.632G= (p.Arg211=) n.2246G= c.422G= (p.Arg141=) n.560G= | |
15 | g.80172174G>T | CA393620457 | FAH | n.796-840G>T c.632G>T (p.Arg211Ile) n.2246G>T c.422G>T (p.Arg141Ile) n.560G>T | |
15 | g.80172175A>C | CA393620458 | FAH | n.796-839A>C c.633A>C (p.Arg211Ser) n.2247A>C c.423A>C (p.Arg141Ser) n.561A>C | |
15 | g.80172175A>G | CA491684799 | FAH | n.796-839A>G c.633A>G (p.Arg211=) n.2247A>G c.423A>G (p.Arg141=) n.561A>G | |
15 | g.80172175A>T | CA393620459 | FAH | n.796-839A>T c.633A>T (p.Arg211Ser) n.2247A>T c.423A>T (p.Arg141Ser) n.561A>T | ClinVar |
15 | g.80172176T>A | CA393620460 | FAH | n.796-838T>A c.634T>A (p.Leu212Met) n.2248T>A c.424T>A (p.Leu142Met) n.562T>A | dbSNP gnomAD v2 gnomAD v4 |
15 | g.80172176T>C | CA491684804 | FAH | n.796-838T>C c.634T>C (p.Leu212=) n.2248T>C c.424T>C (p.Leu142=) n.562T>C | ClinVar dbSNP gnomAD v4 |
15 | g.80172176T>G | CA393620461 | FAH | n.796-838T>G c.634T>G (p.Leu212Val) n.2248T>G c.424T>G (p.Leu142Val) n.562T>G | |
15 | g.80172176T= | CA2190338410 | FAH | n.796-838T= c.634T= (p.Leu212=) n.2248T= c.424T= (p.Leu142=) n.562T= |