Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.102851253_102856067del | CA916084430 | PAH | c.510-735_912+434del c.495-735_897+434del | ClinVar |
12 | g.102855155_102855353delinsTGG | CA2573147930 | PAH | c.510-21_687delinsCCA c.495-21_672delinsCCA n.606-21_783delinsCCA | ClinVar dbSNP |
12 | g.102855177_102855353del | CA16020833 | PAH | c.510-19_667del c.495-19_652del n.606-19_763del | |
12 | g.102855307_102855308del | CA2580085716 | PAH | c.535_536del (p.Tyr179HisfsTer20) c.520_521del (p.Tyr174HisfsTer20) n.631_632del n.556_557del | ClinVar |
12 | g.102855307A= | CA2059449787 | PAH | c.535T= (p.Tyr179=) c.520T= (p.Tyr174=) n.631T= n.556T= | |
12 | g.102855307A>C | CA386296979 | PAH | c.535T>G (p.Tyr179Asp) c.520T>G (p.Tyr174Asp) n.631T>G n.556T>G | |
12 | g.102855307A>G | CA229615 | PAH | c.535T>C (p.Tyr179His) c.520T>C (p.Tyr174His) n.631T>C n.556T>C | ClinVar dbSNP gnomAD v4 |
12 | g.102855307A>T | CA229613 | PAH | c.535T>A (p.Tyr179Asn) c.520T>A (p.Tyr174Asn) n.631T>A n.556T>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.102855308T>A | CA386296984 | PAH | c.534A>T (p.Glu178Asp) c.519A>T (p.Glu173Asp) n.630A>T n.555A>T | |
12 | g.102855308T>C | CA481578621 | PAH | c.534A>G (p.Glu178=) c.519A>G (p.Glu173=) n.630A>G n.555A>G | |
12 | g.102855308T>G | CA386296986 | PAH | c.534A>C (p.Glu178Asp) c.519A>C (p.Glu173Asp) n.630A>C n.555A>C | |
12 | g.102855309T>A | CA229611 | PAH | c.533A>T (p.Glu178Val) c.518A>T (p.Glu173Val) n.629A>T n.554A>T | ClinVar dbSNP |
12 | g.102855309T>C | CA273110 | PAH | c.533A>G (p.Glu178Gly) c.518A>G (p.Glu173Gly) n.629A>G n.554A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102855309T>G | CA386296990 | PAH | c.533A>C (p.Glu178Ala) c.518A>C (p.Glu173Ala) n.629A>C n.554A>C | |
12 | g.102855309T= | CA2059449797 | PAH | c.533A= (p.Glu178=) c.518A= (p.Glu173=) n.629A= n.554A= | |
12 | g.102855310C>A | CA386296993 | PAH | c.532G>T (p.Glu178Ter) c.517G>T (p.Glu173Ter) n.628G>T n.553G>T | |
12 | g.102855310C= | CA2059449802 | PAH | c.532G= (p.Glu178=) c.517G= (p.Glu173=) n.628G= n.553G= | |
12 | g.102855310C>G | CA386296995 | PAH | c.532G>C (p.Glu178Gln) c.517G>C (p.Glu173Gln) n.628G>C n.553G>C | |
12 | g.102855310C>T | CA16020812 | PAH | c.532G>A (p.Glu178Lys) c.517G>A (p.Glu173Lys) n.628G>A n.553G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102855311C>A | CA481578623 | PAH | c.531G>T (p.Val177=) c.516G>T (p.Val172=) n.627G>T n.552G>T | |
12 | g.102855311C>G | CA481578624 | PAH | c.531G>C (p.Val177=) c.516G>C (p.Val172=) n.627G>C n.552G>C | |
12 | g.102855311C>T | CA481578625 | PAH | c.531G>A (p.Val177=) c.516G>A (p.Val172=) n.627G>A n.552G>A | COSMIC |
12 | g.102855312A>C | CA386297000 | PAH | c.530T>G (p.Val177Gly) c.515T>G (p.Val172Gly) n.626T>G n.551T>G | |
12 | g.102855312A>G | CA16020811 | PAH | c.530T>C (p.Val177Ala) c.515T>C (p.Val172Ala) n.626T>C n.551T>C | |
12 | g.102855312A>T | CA386296998 | PAH | c.530T>A (p.Val177Glu) c.515T>A (p.Val172Glu) n.626T>A n.551T>A | |
12 | g.102855312_102855313insTGGTGTCCACGCGTGCCACAGTAATCTCTGCGCCCAGTTTCTTTGCGAGCATACAACTTGTCATGTTGCGGCTCTCGTCGGGGGTCACCGCCACGAAGAGTTTGCATTGTTCTACGCCGATTTCTTT | CA2554068227 | PAH | c.529_530insAAAGAAATCGGCGTAGAACAATGCAAACTCTTCGTGGCGGTGACCCCCGACGAGAGCCGCAACATGACAAGTTGTATGCTCGCAAAGAAACTGGGCGCAGAGATTACTGTGGCACGCGTGGACACCA (p.Val177GlufsTer65) c.514_515insAAAGAAATCGGCGTAGAACAATGCAAACTCTTCGTGGCGGTGACCCCCGACGAGAGCCGCAACATGACAAGTTGTATGCTCGCAAAGAAACTGGGCGCAGAGATTACTGTGGCACGCGTGGACACCA (p.Val172GlufsTer65) n.625_626insAAAGAAATCGGCGTAGAACAATGCAAACTCTTCGTGGCGGTGACCCCCGACGAGAGCCGCAACATGACAAGTTGTATGCTCGCAAAGAAACTGGGCGCAGAGATTACTGTGGCACGCGTGGACACCA n.550_551insAAAGAAATCGGCGTAGAACAATGCAAACTCTTCGTGGCGGTGACCCCCGACGAGAGCCGCAACATGACAAGTTGTATGCTCGCAAAGAAACTGGGCGCAGAGATTACTGTGGCACGCGTGGACACCA | |
12 | g.102855313C>A | CA386297003 | PAH | c.529G>T (p.Val177Leu) c.514G>T (p.Val172Leu) n.625G>T n.550G>T | |
12 | g.102855313C= | CA2059449810 | PAH | c.529G= (p.Val177=) c.514G= (p.Val172=) n.625G= n.550G= | |
12 | g.102855313C>G | CA229610 | PAH | c.529G>C (p.Val177Leu) c.514G>C (p.Val172Leu) n.625G>C n.550G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102855313C>T | CA229609 | PAH | c.529G>A (p.Val177Met) c.514G>A (p.Val172Met) n.625G>A n.550G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102855314T>A | CA481578626 | PAH | c.528A>T (p.Arg176=) c.513A>T (p.Arg171=) n.624A>T n.549A>T | |
12 | g.102855314T>C | CA481578628 | PAH | c.528A>G (p.Arg176=) c.513A>G (p.Arg171=) n.624A>G n.549A>G | |
12 | g.102855314T>G | CA481578627 | PAH | c.528A>C (p.Arg176=) c.513A>C (p.Arg171=) n.624A>C n.549A>C | |
12 | g.102855315C>A | CA114371 | PAH | c.527G>T (p.Arg176Leu) c.512G>T (p.Arg171Leu) n.623G>T n.548G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.102855315C= | CA2059449817 | PAH | c.527G= (p.Arg176=) c.512G= (p.Arg171=) n.623G= n.548G= | |
12 | g.102855315C>G | CA229608 | PAH | c.527G>C (p.Arg176Pro) c.512G>C (p.Arg171Pro) n.623G>C n.548G>C | ClinVar dbSNP |
12 | g.102855315C>T | CA229606 | PAH | c.527G>A (p.Arg176Gln) c.512G>A (p.Arg171Gln) n.623G>A n.548G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102855316G>A | CA275338 | PAH | c.526C>T (p.Arg176Ter) c.511C>T (p.Arg171Ter) n.622C>T n.547C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102855316G>C | CA386297012 | PAH | c.526C>G (p.Arg176Gly) c.511C>G (p.Arg171Gly) n.622C>G n.547C>G | |
12 | g.102855316G= | CA2059449829 | PAH | c.526C= (p.Arg176=) c.511C= (p.Arg171=) n.622C= n.547C= | |
12 | g.102855316G>T | CA481578629 | PAH | c.526C>A (p.Arg176=) c.511C>A (p.Arg171=) n.622C>A n.547C>A | gnomAD v4 |
12 | g.102855317A>C | CA481578630 | PAH | c.525T>G (p.Pro175=) c.510T>G (p.Pro170=) n.621T>G n.546T>G | |
12 | g.102855317A>G | CA481578631 | PAH | c.525T>C (p.Pro175=) c.510T>C (p.Pro170=) n.621T>C n.546T>C | |
12 | g.102855317A>T | CA481578632 | PAH | c.525T>A (p.Pro175=) c.510T>A (p.Pro170=) n.621T>A n.546T>A | |
12 | g.102855318G>A | CA386297015 | PAH | c.524C>T (p.Pro175Leu) c.509C>T (p.Pro170Leu) n.620C>T n.545C>T | COSMIC |
12 | g.102855318G>C | CA386297017 | PAH | c.524C>G (p.Pro175Arg) c.509C>G (p.Pro170Arg) n.620C>G n.545C>G | dbSNP gnomAD v3 gnomAD v4 |
12 | g.102855318G= | CA2059449835 | PAH | c.524C= (p.Pro175=) c.509C= (p.Pro170=) n.620C= n.545C= | |
12 | g.102855318G>T | CA386297019 | PAH | c.524C>A (p.Pro175His) c.509C>A (p.Pro170His) n.620C>A n.545C>A | |
12 | g.102855319G>A | CA16020810 | PAH | c.523C>T (p.Pro175Ser) c.508C>T (p.Pro170Ser) n.619C>T n.544C>T | ClinVar dbSNP |
12 | g.102855319G>C | CA229605 | PAH | c.523C>G (p.Pro175Ala) c.508C>G (p.Pro170Ala) n.619C>G n.544C>G | ClinVar dbSNP |