Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.80172150_80172151delinsCT | CA2190338397 | FAH | n.796-864_796-863delinsCT c.608_609delinsCT (p.Ala203=) n.2234-12_2234-11delinsCT c.398_399delinsCT (p.Ala133=) n.536_537delinsCT | |
15 | g.80172151T>A | CA491684646 | FAH | n.796-863T>A c.609T>A (p.Ala203=) n.2234-11T>A c.399T>A (p.Ala133=) n.537T>A | |
15 | g.80172151T>C | CA274028678 | FAH | n.796-863T>C c.609T>C (p.Ala203=) n.2234-11T>C c.399T>C (p.Ala133=) n.537T>C | dbSNP gnomAD v4 |
15 | g.80172151T>G | CA7691285 | FAH | n.796-863T>G c.609T>G (p.Ala203=) n.2234-11T>G c.399T>G (p.Ala133=) n.537T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.80172151T= | CA2190338398 | FAH | n.796-863T= c.609T= (p.Ala203=) n.2234-11T= c.399T= (p.Ala133=) n.537T= | |
15 | g.80172157dup | CA716072041 | FAH | n.796-857dup c.615dup (p.Val206CysfsTer18) n.2234-5dup c.405dup (p.Val136CysfsTer18) n.543dup | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.80172157del | CA16041758 | FAH | n.796-857del c.615del (p.Phe205LeufsTer2) n.2234-5del c.405del (p.Phe135LeufsTer2) n.543del | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
15 | g.80172152T>A | CA393620411 | FAH | n.796-862T>A c.610T>A (p.Phe204Ile) n.2234-10T>A c.400T>A (p.Phe134Ile) n.538T>A | |
15 | g.80172152T>C | CA393620410 | FAH | n.796-862T>C c.610T>C (p.Phe204Leu) n.2234-10T>C c.400T>C (p.Phe134Leu) n.538T>C | |
15 | g.80172152T>G | CA393620409 | FAH | n.796-862T>G c.610T>G (p.Phe204Val) n.2234-10T>G c.400T>G (p.Phe134Val) n.538T>G | |
15 | g.80172153T>A | CA393620412 | FAH | n.796-861T>A c.611T>A (p.Phe204Tyr) n.2234-9T>A c.401T>A (p.Phe134Tyr) n.539T>A | |
15 | g.80172153T>C | CA393620413 | FAH | n.796-861T>C c.611T>C (p.Phe204Ser) n.2234-9T>C c.401T>C (p.Phe134Ser) n.539T>C | |
15 | g.80172153T>G | CA393620414 | FAH | n.796-861T>G c.611T>G (p.Phe204Cys) n.2234-9T>G c.401T>G (p.Phe134Cys) n.539T>G | |
15 | g.80172154T>A | CA393620415 | FAH | n.796-860T>A c.612T>A (p.Phe204Leu) n.2234-8T>A c.402T>A (p.Phe134Leu) n.540T>A | |
15 | g.80172154T>C | CA491684665 | FAH | n.796-860T>C c.612T>C (p.Phe204=) n.2234-8T>C c.402T>C (p.Phe134=) n.540T>C | |
15 | g.80172154T>G | CA393620416 | FAH | n.796-860T>G c.612T>G (p.Phe204Leu) n.2234-8T>G c.402T>G (p.Phe134Leu) n.540T>G | |
15 | g.80172155T>A | CA393620417 | FAH | n.796-859T>A c.613T>A (p.Phe205Ile) n.2234-7T>A c.403T>A (p.Phe135Ile) n.541T>A | |
15 | g.80172155T>C | CA393620418 | FAH | n.796-859T>C c.613T>C (p.Phe205Leu) n.2234-7T>C c.403T>C (p.Phe135Leu) n.541T>C | |
15 | g.80172155T>G | CA393620419 | FAH | n.796-859T>G c.613T>G (p.Phe205Val) n.2234-7T>G c.403T>G (p.Phe135Val) n.541T>G | |
15 | g.80172156T>A | CA393620420 | FAH | n.796-858T>A c.614T>A (p.Phe205Tyr) n.2234-6T>A c.404T>A (p.Phe135Tyr) n.542T>A | |
15 | g.80172156T>C | CA393620421 | FAH | n.796-858T>C c.614T>C (p.Phe205Ser) n.2234-6T>C c.404T>C (p.Phe135Ser) n.542T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80172156T>G | CA393620422 | FAH | n.796-858T>G c.614T>G (p.Phe205Cys) n.2234-6T>G c.404T>G (p.Phe135Cys) n.542T>G | |
15 | g.80172156T= | CA2190338399 | FAH | n.796-858T= c.614T= (p.Phe205=) n.2234-6T= c.404T= (p.Phe135=) n.542T= | |
15 | g.80172157T>A | CA393620423 | FAH | n.796-857T>A c.615T>A (p.Phe205Leu) n.2234-5T>A c.405T>A (p.Phe135Leu) n.543T>A | ClinVar dbSNP |
15 | g.80172157T>C | CA491684697 | FAH | n.796-857T>C c.615T>C (p.Phe205=) n.2234-5T>C c.405T>C (p.Phe135=) n.543T>C | |
15 | g.80172157T>G | CA393620424 | FAH | n.796-857T>G c.615T>G (p.Phe205Leu) n.2234-5T>G c.405T>G (p.Phe135Leu) n.543T>G | |
15 | g.80172157T= | CA2190338400 | FAH | n.796-857T= c.615T= (p.Phe205=) n.2234-5T= c.405T= (p.Phe135=) n.543T= | |
15 | g.80172158del | CA2695197329 | FAH | n.796-856del c.616del (p.Val206Ter) n.2234-4del c.406del (p.Val136Ter) n.544del | ClinVar |
15 | g.80172158G>A | CA7691286 | FAH | n.796-856G>A c.616G>A (p.Val206Ile) n.2234-4G>A c.406G>A (p.Val136Ile) n.544G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80172158G>C | CA393620426 | FAH | n.796-856G>C c.616G>C (p.Val206Leu) n.2234-4G>C c.406G>C (p.Val136Leu) n.544G>C | |
15 | g.80172158G= | CA2190338401 | FAH | n.796-856G= c.616G= (p.Val206=) n.2234-4G= c.406G= (p.Val136=) n.544G= | |
15 | g.80172158G>T | CA393620425 | FAH | n.796-856G>T c.616G>T (p.Val206Leu) n.2234-4G>T c.406G>T (p.Val136Leu) n.544G>T | |
15 | g.80172159T>A | CA393620427 | FAH | n.796-855T>A c.617T>A (p.Val206Glu) n.2234-3T>A c.407T>A (p.Val136Glu) n.545T>A | |
15 | g.80172159T>C | CA393620428 | FAH | n.796-855T>C c.617T>C (p.Val206Ala) n.2234-3T>C c.407T>C (p.Val136Ala) n.545T>C | dbSNP |
15 | g.80172159T>G | CA393620429 | FAH | n.796-855T>G c.617T>G (p.Val206Gly) n.2234-3T>G c.407T>G (p.Val136Gly) n.545T>G | |
15 | g.80172160A>C | CA491684709 | FAH | n.796-854A>C c.618A>C (p.Val206=) n.2234-2A>C c.408A>C (p.Val136=) n.546A>C | |
15 | g.80172160A>G | CA491684712 | FAH | n.796-854A>G c.618A>G (p.Val206=) n.2234-2A>G c.408A>G (p.Val136=) n.546A>G | |
15 | g.80172160A>T | CA491684715 | FAH | n.796-854A>T c.618A>T (p.Val206=) n.2234-2A>T c.408A>T (p.Val136=) n.546A>T | |
15 | g.80172161G>A | CA393620430 | FAH | n.796-853G>A c.619G>A (p.Gly207Ser) n.2234-1G>A c.409G>A (p.Gly137Ser) n.547G>A | |
15 | g.80172161G>C | CA393620431 | FAH | n.796-853G>C c.619G>C (p.Gly207Arg) n.2234-1G>C c.409G>C (p.Gly137Arg) n.547G>C | |
15 | g.80172161G>T | CA393620432 | FAH | n.796-853G>T c.619G>T (p.Gly207Cys) n.2234-1G>T c.409G>T (p.Gly137Cys) n.547G>T | |
15 | g.80172162G>A | CA7691287 | FAH | n.796-852G>A c.620G>A (p.Gly207Asp) n.2234G>A c.410G>A (p.Gly137Asp) n.548G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80172162G>C | CA393620433 | FAH | n.796-852G>C c.620G>C (p.Gly207Ala) n.2234G>C c.410G>C (p.Gly137Ala) n.548G>C | |
15 | g.80172162G= | CA2190338402 | FAH | n.796-852G= c.620G= (p.Gly207=) n.2234G= c.410G= (p.Gly137=) n.548G= | |
15 | g.80172162G>T | CA393620434 | FAH | n.796-852G>T c.620G>T (p.Gly207Val) n.2234G>T c.410G>T (p.Gly137Val) n.548G>T | |
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 |