Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.73489682_73489683delinsAG | CA1260981101 | ALMS1 | c.7342_7343delinsAG (p.Ser2448=) c.734_735delinsAG c.4794_4795delinsAG c.1789_1790delinsAG (p.Ser597=) c.7723_7724delinsAG (p.Ser2575=) c.896-30093_896-30092delinsAG c.2554_2555delinsAG (p.Ser852=) c.7597_7598delinsAG (p.Ser2533=) n.1526_1527delinsAG c.7726_7727delinsAG (p.Ser2576=) | |
2 | g.73489683del | CA1260981103 | ALMS1 | c.7343del (p.Ser2448IlefsTer16) c.735del c.4795del c.1790del (p.Ser597IlefsTer16) c.7724del (p.Ser2575IlefsTer16) c.896-30092del c.2555del (p.Ser852IlefsTer16) c.7598del (p.Ser2533IlefsTer16) n.1527del c.7727del (p.Ser2576IlefsTer16) | dbSNP |
2 | g.73489683G>A | CA1714331 | ALMS1 | c.7343G>A (p.Ser2448Asn) c.735G>A c.4795G>A c.1790G>A (p.Ser597Asn) c.7724G>A (p.Ser2575Asn) c.896-30092G>A c.2555G>A (p.Ser852Asn) c.7598G>A (p.Ser2533Asn) n.1527G>A c.7727G>A (p.Ser2576Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489683G>C | CA347263929 | ALMS1 | c.7343G>C (p.Ser2448Thr) c.735G>C c.4795G>C c.1790G>C (p.Ser597Thr) c.7724G>C (p.Ser2575Thr) c.896-30092G>C c.2555G>C (p.Ser852Thr) c.7598G>C (p.Ser2533Thr) n.1527G>C c.7727G>C (p.Ser2576Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489683G= | CA1260981102 | ALMS1 | c.7343G= (p.Ser2448=) c.735G= c.4795G= c.1790G= (p.Ser597=) c.7724G= (p.Ser2575=) c.896-30092G= c.2555G= (p.Ser852=) c.7598G= (p.Ser2533=) n.1527G= c.7727G= (p.Ser2576=) | |
2 | g.73489683G>T | CA347263930 | ALMS1 | c.7343G>T (p.Ser2448Ile) c.735G>T c.4795G>T c.1790G>T (p.Ser597Ile) c.7724G>T (p.Ser2575Ile) c.896-30092G>T c.2555G>T (p.Ser852Ile) c.7598G>T (p.Ser2533Ile) n.1527G>T c.7727G>T (p.Ser2576Ile) | |
2 | g.73489684T>A | CA347263931 | ALMS1 | c.7344T>A (p.Ser2448Arg) c.736T>A c.4796T>A c.1791T>A (p.Ser597Arg) c.7725T>A (p.Ser2575Arg) c.896-30091T>A c.2556T>A (p.Ser852Arg) c.7599T>A (p.Ser2533Arg) n.1528T>A c.7728T>A (p.Ser2576Arg) | gnomAD v4 |
2 | g.73489684T>C | CA426765350 | ALMS1 | c.7344T>C (p.Ser2448=) c.736T>C c.4796T>C c.1791T>C (p.Ser597=) c.7725T>C (p.Ser2575=) c.896-30091T>C c.2556T>C (p.Ser852=) c.7599T>C (p.Ser2533=) n.1528T>C c.7728T>C (p.Ser2576=) | |
2 | g.73489684T>G | CA347263932 | ALMS1 | c.7344T>G (p.Ser2448Arg) c.736T>G c.4796T>G c.1791T>G (p.Ser597Arg) c.7725T>G (p.Ser2575Arg) c.896-30091T>G c.2556T>G (p.Ser852Arg) c.7599T>G (p.Ser2533Arg) n.1528T>G c.7728T>G (p.Ser2576Arg) | |
2 | g.73489685C>A | CA347263933 | ALMS1 | c.7345C>A (p.His2449Asn) c.737C>A c.4797C>A c.1792C>A (p.His598Asn) c.7726C>A (p.His2576Asn) c.896-30090C>A c.2557C>A (p.His853Asn) c.7600C>A (p.His2534Asn) n.1529C>A c.7729C>A (p.His2577Asn) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73489685C= | CA1260981104 | ALMS1 | c.7345C= (p.His2449=) c.737C= c.4797C= c.1792C= (p.His598=) c.7726C= (p.His2576=) c.896-30090C= c.2557C= (p.His853=) c.7600C= (p.His2534=) n.1529C= c.7729C= (p.His2577=) | |
2 | g.73489685C>G | CA347263934 | ALMS1 | c.7345C>G (p.His2449Asp) c.737C>G c.4797C>G c.1792C>G (p.His598Asp) c.7726C>G (p.His2576Asp) c.896-30090C>G c.2557C>G (p.His853Asp) c.7600C>G (p.His2534Asp) n.1529C>G c.7729C>G (p.His2577Asp) | gnomAD v4 |
2 | g.73489685C>T | CA347263935 | ALMS1 | c.7345C>T (p.His2449Tyr) c.737C>T c.4797C>T c.1792C>T (p.His598Tyr) c.7726C>T (p.His2576Tyr) c.896-30090C>T c.2557C>T (p.His853Tyr) c.7600C>T (p.His2534Tyr) n.1529C>T c.7729C>T (p.His2577Tyr) | |
2 | g.73489686A>C | CA347263938 | ALMS1 | c.7346A>C (p.His2449Pro) c.738A>C c.4798A>C c.1793A>C (p.His598Pro) c.7727A>C (p.His2576Pro) c.896-30089A>C c.2558A>C (p.His853Pro) c.7601A>C (p.His2534Pro) n.1530A>C c.7730A>C (p.His2577Pro) | |
2 | g.73489686A>G | CA347263937 | ALMS1 | c.7346A>G (p.His2449Arg) c.738A>G c.4798A>G c.1793A>G (p.His598Arg) c.7727A>G (p.His2576Arg) c.896-30089A>G c.2558A>G (p.His853Arg) c.7601A>G (p.His2534Arg) n.1530A>G c.7730A>G (p.His2577Arg) | |
2 | g.73489686A>T | CA347263936 | ALMS1 | c.7346A>T (p.His2449Leu) c.738A>T c.4798A>T c.1793A>T (p.His598Leu) c.7727A>T (p.His2576Leu) c.896-30089A>T c.2558A>T (p.His853Leu) c.7601A>T (p.His2534Leu) n.1530A>T c.7730A>T (p.His2577Leu) | |
2 | g.73489687C>A | CA347263939 | ALMS1 | c.7347C>A (p.His2449Gln) c.739C>A c.4799C>A c.1794C>A (p.His598Gln) c.7728C>A (p.His2576Gln) c.896-30088C>A c.2559C>A (p.His853Gln) c.7602C>A (p.His2534Gln) n.1531C>A c.7731C>A (p.His2577Gln) | |
2 | g.73489687C= | CA1260981105 | ALMS1 | c.7347C= (p.His2449=) c.739C= c.4799C= c.1794C= (p.His598=) c.7728C= (p.His2576=) c.896-30088C= c.2559C= (p.His853=) c.7602C= (p.His2534=) n.1531C= c.7731C= (p.His2577=) | |
2 | g.73489687C>G | CA347263940 | ALMS1 | c.7347C>G (p.His2449Gln) c.739C>G c.4799C>G c.1794C>G (p.His598Gln) c.7728C>G (p.His2576Gln) c.896-30088C>G c.2559C>G (p.His853Gln) c.7602C>G (p.His2534Gln) n.1531C>G c.7731C>G (p.His2577Gln) | |
2 | g.73489687C>T | CA1714332 | ALMS1 | c.7347C>T (p.His2449=) c.739C>T c.4799C>T c.1794C>T (p.His598=) c.7728C>T (p.His2576=) c.896-30088C>T c.2559C>T (p.His853=) c.7602C>T (p.His2534=) n.1531C>T c.7731C>T (p.His2577=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73489688A= | CA1260981106 | ALMS1 | c.7348A= (p.Ile2450=) c.740A= c.4800A= c.1795A= (p.Ile599=) c.7729A= (p.Ile2577=) c.896-30087A= c.2560A= (p.Ile854=) c.7603A= (p.Ile2535=) n.1532A= c.7732A= (p.Ile2578=) | |
2 | g.73489688A>C | CA347263941 | ALMS1 | c.7348A>C (p.Ile2450Leu) c.740A>C c.4800A>C c.1795A>C (p.Ile599Leu) c.7729A>C (p.Ile2577Leu) c.896-30087A>C c.2560A>C (p.Ile854Leu) c.7603A>C (p.Ile2535Leu) n.1532A>C c.7732A>C (p.Ile2578Leu) | |
2 | g.73489688A>G | CA347263942 | ALMS1 | c.7348A>G (p.Ile2450Val) c.740A>G c.4800A>G c.1795A>G (p.Ile599Val) c.7729A>G (p.Ile2577Val) c.896-30087A>G c.2560A>G (p.Ile854Val) c.7603A>G (p.Ile2535Val) n.1532A>G c.7732A>G (p.Ile2578Val) | ClinVar dbSNP |
2 | g.73489688A>T | CA347263943 | ALMS1 | c.7348A>T (p.Ile2450Phe) c.740A>T c.4800A>T c.1795A>T (p.Ile599Phe) c.7729A>T (p.Ile2577Phe) c.896-30087A>T c.2560A>T (p.Ile854Phe) c.7603A>T (p.Ile2535Phe) n.1532A>T c.7732A>T (p.Ile2578Phe) | ClinVar |
2 | g.73489689T>A | CA347263944 | ALMS1 | c.7349T>A (p.Ile2450Asn) c.741T>A c.4801T>A c.1796T>A (p.Ile599Asn) c.7730T>A (p.Ile2577Asn) c.896-30086T>A c.2561T>A (p.Ile854Asn) c.7604T>A (p.Ile2535Asn) n.1533T>A c.7733T>A (p.Ile2578Asn) | |
2 | g.73489689T>C | CA347263946 | ALMS1 | c.7349T>C (p.Ile2450Thr) c.741T>C c.4801T>C c.1796T>C (p.Ile599Thr) c.7730T>C (p.Ile2577Thr) c.896-30086T>C c.2561T>C (p.Ile854Thr) c.7604T>C (p.Ile2535Thr) n.1533T>C c.7733T>C (p.Ile2578Thr) | |
2 | g.73489689T>G | CA347263945 | ALMS1 | c.7349T>G (p.Ile2450Ser) c.741T>G c.4801T>G c.1796T>G (p.Ile599Ser) c.7730T>G (p.Ile2577Ser) c.896-30086T>G c.2561T>G (p.Ile854Ser) c.7604T>G (p.Ile2535Ser) n.1533T>G c.7733T>G (p.Ile2578Ser) | gnomAD v4 |
2 | g.73489690T>A | CA426765373 | ALMS1 | c.7350T>A (p.Ile2450=) c.742T>A c.4802T>A c.1797T>A (p.Ile599=) c.7731T>A (p.Ile2577=) c.896-30085T>A c.2562T>A (p.Ile854=) c.7605T>A (p.Ile2535=) n.1534T>A c.7734T>A (p.Ile2578=) | |
2 | g.73489690T>C | CA426765374 | ALMS1 | c.7350T>C (p.Ile2450=) c.742T>C c.4802T>C c.1797T>C (p.Ile599=) c.7731T>C (p.Ile2577=) c.896-30085T>C c.2562T>C (p.Ile854=) c.7605T>C (p.Ile2535=) n.1534T>C c.7734T>C (p.Ile2578=) | |
2 | g.73489690T>G | CA347263947 | ALMS1 | c.7350T>G (p.Ile2450Met) c.742T>G c.4802T>G c.1797T>G (p.Ile599Met) c.7731T>G (p.Ile2577Met) c.896-30085T>G c.2562T>G (p.Ile854Met) c.7605T>G (p.Ile2535Met) n.1534T>G c.7734T>G (p.Ile2578Met) | |
2 | g.73489691A= | CA1260981107 | ALMS1 | c.7351A= (p.Ile2451=) c.743A= c.4803A= c.1798A= (p.Ile600=) c.7732A= (p.Ile2578=) c.896-30084A= c.2563A= (p.Ile855=) c.7606A= (p.Ile2536=) n.1535A= c.7735A= (p.Ile2579=) | |
2 | g.73489691A>C | CA347263948 | ALMS1 | c.7351A>C (p.Ile2451Leu) c.743A>C c.4803A>C c.1798A>C (p.Ile600Leu) c.7732A>C (p.Ile2578Leu) c.896-30084A>C c.2563A>C (p.Ile855Leu) c.7606A>C (p.Ile2536Leu) n.1535A>C c.7735A>C (p.Ile2579Leu) | |
2 | g.73489691A>G | CA347263949 | ALMS1 | c.7351A>G (p.Ile2451Val) c.743A>G c.4803A>G c.1798A>G (p.Ile600Val) c.7732A>G (p.Ile2578Val) c.896-30084A>G c.2563A>G (p.Ile855Val) c.7606A>G (p.Ile2536Val) n.1535A>G c.7735A>G (p.Ile2579Val) | ClinVar dbSNP |
2 | g.73489691A>T | CA347263950 | ALMS1 | c.7351A>T (p.Ile2451Phe) c.743A>T c.4803A>T c.1798A>T (p.Ile600Phe) c.7732A>T (p.Ile2578Phe) c.896-30084A>T c.2563A>T (p.Ile855Phe) c.7606A>T (p.Ile2536Phe) n.1535A>T c.7735A>T (p.Ile2579Phe) | |
2 | g.73489692T>A | CA347263951 | ALMS1 | c.7352T>A (p.Ile2451Asn) c.744T>A c.4804T>A c.1799T>A (p.Ile600Asn) c.7733T>A (p.Ile2578Asn) c.896-30083T>A c.2564T>A (p.Ile855Asn) c.7607T>A (p.Ile2536Asn) n.1536T>A c.7736T>A (p.Ile2579Asn) | |
2 | g.73489692T>C | CA347263952 | ALMS1 | c.7352T>C (p.Ile2451Thr) c.744T>C c.4804T>C c.1799T>C (p.Ile600Thr) c.7733T>C (p.Ile2578Thr) c.896-30083T>C c.2564T>C (p.Ile855Thr) c.7607T>C (p.Ile2536Thr) n.1536T>C c.7736T>C (p.Ile2579Thr) | |
2 | g.73489692T>G | CA347263953 | ALMS1 | c.7352T>G (p.Ile2451Ser) c.744T>G c.4804T>G c.1799T>G (p.Ile600Ser) c.7733T>G (p.Ile2578Ser) c.896-30083T>G c.2564T>G (p.Ile855Ser) c.7607T>G (p.Ile2536Ser) n.1536T>G c.7736T>G (p.Ile2579Ser) | |
2 | g.73489693T>A | CA426765378 | ALMS1 | c.7353T>A (p.Ile2451=) c.745T>A c.4805T>A c.1800T>A (p.Ile600=) c.7734T>A (p.Ile2578=) c.896-30082T>A c.2565T>A (p.Ile855=) c.7608T>A (p.Ile2536=) n.1537T>A c.7737T>A (p.Ile2579=) | |
2 | g.73489693T>C | CA426765379 | ALMS1 | c.7353T>C (p.Ile2451=) c.745T>C c.4805T>C c.1800T>C (p.Ile600=) c.7734T>C (p.Ile2578=) c.896-30082T>C c.2565T>C (p.Ile855=) c.7608T>C (p.Ile2536=) n.1537T>C c.7737T>C (p.Ile2579=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73489693T>G | CA347263954 | ALMS1 | c.7353T>G (p.Ile2451Met) c.745T>G c.4805T>G c.1800T>G (p.Ile600Met) c.7734T>G (p.Ile2578Met) c.896-30082T>G c.2565T>G (p.Ile855Met) c.7608T>G (p.Ile2536Met) n.1537T>G c.7737T>G (p.Ile2579Met) | |
2 | g.73489693T= | CA1260981108 | ALMS1 | c.7353T= (p.Ile2451=) c.745T= c.4805T= c.1800T= (p.Ile600=) c.7734T= (p.Ile2578=) c.896-30082T= c.2565T= (p.Ile855=) c.7608T= (p.Ile2536=) n.1537T= c.7737T= (p.Ile2579=) | |
2 | g.73489694A= | CA1260981109 | ALMS1 | c.7354A= (p.Ile2452=) c.746A= c.4806A= c.1801A= (p.Ile601=) c.7735A= (p.Ile2579=) c.896-30081A= c.2566A= (p.Ile856=) c.7609A= (p.Ile2537=) n.1538A= c.7738A= (p.Ile2580=) | |
2 | g.73489694A>C | CA347263955 | ALMS1 | c.7354A>C (p.Ile2452Leu) c.746A>C c.4806A>C c.1801A>C (p.Ile601Leu) c.7735A>C (p.Ile2579Leu) c.896-30081A>C c.2566A>C (p.Ile856Leu) c.7609A>C (p.Ile2537Leu) n.1538A>C c.7738A>C (p.Ile2580Leu) | |
2 | g.73489694A>G | CA347263956 | ALMS1 | c.7354A>G (p.Ile2452Val) c.746A>G c.4806A>G c.1801A>G (p.Ile601Val) c.7735A>G (p.Ile2579Val) c.896-30081A>G c.2566A>G (p.Ile856Val) c.7609A>G (p.Ile2537Val) n.1538A>G c.7738A>G (p.Ile2580Val) | gnomAD v4 |
2 | g.73489694A>T | CA1714333 | ALMS1 | c.7354A>T (p.Ile2452Phe) c.746A>T c.4806A>T c.1801A>T (p.Ile601Phe) c.7735A>T (p.Ile2579Phe) c.896-30081A>T c.2566A>T (p.Ile856Phe) c.7609A>T (p.Ile2537Phe) n.1538A>T c.7738A>T (p.Ile2580Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489695T>A | CA347263957 | ALMS1 | c.7355T>A (p.Ile2452Asn) c.747T>A c.4807T>A c.1802T>A (p.Ile601Asn) c.7736T>A (p.Ile2579Asn) c.896-30080T>A c.2567T>A (p.Ile856Asn) c.7610T>A (p.Ile2537Asn) n.1539T>A c.7739T>A (p.Ile2580Asn) | |
2 | g.73489695T>C | CA347263959 | ALMS1 | c.7355T>C (p.Ile2452Thr) c.747T>C c.4807T>C c.1802T>C (p.Ile601Thr) c.7736T>C (p.Ile2579Thr) c.896-30080T>C c.2567T>C (p.Ile856Thr) c.7610T>C (p.Ile2537Thr) n.1539T>C c.7739T>C (p.Ile2580Thr) | ClinVar |
2 | g.73489695T>G | CA347263958 | ALMS1 | c.7355T>G (p.Ile2452Ser) c.747T>G c.4807T>G c.1802T>G (p.Ile601Ser) c.7736T>G (p.Ile2579Ser) c.896-30080T>G c.2567T>G (p.Ile856Ser) c.7610T>G (p.Ile2537Ser) n.1539T>G c.7739T>G (p.Ile2580Ser) | |
2 | g.73489696T>A | CA426765389 | ALMS1 | c.7356T>A (p.Ile2452=) c.748T>A c.4808T>A c.1803T>A (p.Ile601=) c.7737T>A (p.Ile2579=) c.896-30079T>A c.2568T>A (p.Ile856=) c.7611T>A (p.Ile2537=) n.1540T>A c.7740T>A (p.Ile2580=) | |
2 | g.73489696T>C | CA426765391 | ALMS1 | c.7356T>C (p.Ile2452=) c.748T>C c.4808T>C c.1803T>C (p.Ile601=) c.7737T>C (p.Ile2579=) c.896-30079T>C c.2568T>C (p.Ile856=) c.7611T>C (p.Ile2537=) n.1540T>C c.7740T>C (p.Ile2580=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73489696T>G | CA347263960 | ALMS1 | c.7356T>G (p.Ile2452Met) c.748T>G c.4808T>G c.1803T>G (p.Ile601Met) c.7737T>G (p.Ile2579Met) c.896-30079T>G c.2568T>G (p.Ile856Met) c.7611T>G (p.Ile2537Met) n.1540T>G c.7740T>G (p.Ile2580Met) | |
2 | g.73489696T= | CA1260981110 | ALMS1 | c.7356T= (p.Ile2452=) c.748T= c.4808T= c.1803T= (p.Ile601=) c.7737T= (p.Ile2579=) c.896-30079T= c.2568T= (p.Ile856=) c.7611T= (p.Ile2537=) n.1540T= c.7740T= (p.Ile2580=) | |
2 | g.73489697G>A | CA347263961 | ALMS1 | c.7357G>A (p.Glu2453Lys) c.749G>A c.4809G>A c.1804G>A (p.Glu602Lys) c.7738G>A (p.Glu2580Lys) c.896-30078G>A c.2569G>A (p.Glu857Lys) c.7612G>A (p.Glu2538Lys) n.1541G>A c.7741G>A (p.Glu2581Lys) | ClinVar |
2 | g.73489697G>C | CA347263962 | ALMS1 | c.7357G>C (p.Glu2453Gln) c.749G>C c.4809G>C c.1804G>C (p.Glu602Gln) c.7738G>C (p.Glu2580Gln) c.896-30078G>C c.2569G>C (p.Glu857Gln) c.7612G>C (p.Glu2538Gln) n.1541G>C c.7741G>C (p.Glu2581Gln) | |
2 | g.73489697G>T | CA347263963 | ALMS1 | c.7357G>T (p.Glu2453Ter) c.749G>T c.4809G>T c.1804G>T (p.Glu602Ter) c.7738G>T (p.Glu2580Ter) c.896-30078G>T c.2569G>T (p.Glu857Ter) c.7612G>T (p.Glu2538Ter) n.1541G>T c.7741G>T (p.Glu2581Ter) | gnomAD v4 |
2 | g.73489698A>C | CA347263964 | ALMS1 | c.7358A>C (p.Glu2453Ala) c.750A>C c.4810A>C c.1805A>C (p.Glu602Ala) c.7739A>C (p.Glu2580Ala) c.896-30077A>C c.2570A>C (p.Glu857Ala) c.7613A>C (p.Glu2538Ala) n.1542A>C c.7742A>C (p.Glu2581Ala) | |
2 | g.73489698A>G | CA347263965 | ALMS1 | c.7358A>G (p.Glu2453Gly) c.750A>G c.4810A>G c.1805A>G (p.Glu602Gly) c.7739A>G (p.Glu2580Gly) c.896-30077A>G c.2570A>G (p.Glu857Gly) c.7613A>G (p.Glu2538Gly) n.1542A>G c.7742A>G (p.Glu2581Gly) | ClinVar dbSNP gnomAD v4 |
2 | g.73489698A>T | CA347263966 | ALMS1 | c.7358A>T (p.Glu2453Val) c.750A>T c.4810A>T c.1805A>T (p.Glu602Val) c.7739A>T (p.Glu2580Val) c.896-30077A>T c.2570A>T (p.Glu857Val) c.7613A>T (p.Glu2538Val) n.1542A>T c.7742A>T (p.Glu2581Val) | |
2 | g.73489699G>A | CA1714335 | ALMS1 | c.7359G>A (p.Glu2453=) c.751G>A c.4811G>A c.1806G>A (p.Glu602=) c.7740G>A (p.Glu2580=) c.896-30076G>A c.2571G>A (p.Glu857=) c.7614G>A (p.Glu2538=) n.1543G>A c.7743G>A (p.Glu2581=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73489699G>C | CA1714334 | ALMS1 | c.7359G>C (p.Glu2453Asp) c.751G>C c.4811G>C c.1806G>C (p.Glu602Asp) c.7740G>C (p.Glu2580Asp) c.896-30076G>C c.2571G>C (p.Glu857Asp) c.7614G>C (p.Glu2538Asp) n.1543G>C c.7743G>C (p.Glu2581Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489699G= | CA1260981111 | ALMS1 | c.7359G= (p.Glu2453=) c.751G= c.4811G= c.1806G= (p.Glu602=) c.7740G= (p.Glu2580=) c.896-30076G= c.2571G= (p.Glu857=) c.7614G= (p.Glu2538=) n.1543G= c.7743G= (p.Glu2581=) | |
2 | g.73489699G>T | CA347263967 | ALMS1 | c.7359G>T (p.Glu2453Asp) c.751G>T c.4811G>T c.1806G>T (p.Glu602Asp) c.7740G>T (p.Glu2580Asp) c.896-30076G>T c.2571G>T (p.Glu857Asp) c.7614G>T (p.Glu2538Asp) n.1543G>T c.7743G>T (p.Glu2581Asp) | |
2 | g.73489700A>C | CA347263968 | ALMS1 | c.7360A>C (p.Ser2454Arg) c.752A>C c.4812A>C c.1807A>C (p.Ser603Arg) c.7741A>C (p.Ser2581Arg) c.896-30075A>C c.2572A>C (p.Ser858Arg) c.7615A>C (p.Ser2539Arg) n.1544A>C c.7744A>C (p.Ser2582Arg) | |
2 | g.73489700A>G | CA347263969 | ALMS1 | c.7360A>G (p.Ser2454Gly) c.752A>G c.4812A>G c.1807A>G (p.Ser603Gly) c.7741A>G (p.Ser2581Gly) c.896-30075A>G c.2572A>G (p.Ser858Gly) c.7615A>G (p.Ser2539Gly) n.1544A>G c.7744A>G (p.Ser2582Gly) | |
2 | g.73489700A>T | CA347263970 | ALMS1 | c.7360A>T (p.Ser2454Cys) c.752A>T c.4812A>T c.1807A>T (p.Ser603Cys) c.7741A>T (p.Ser2581Cys) c.896-30075A>T c.2572A>T (p.Ser858Cys) c.7615A>T (p.Ser2539Cys) n.1544A>T c.7744A>T (p.Ser2582Cys) | |
2 | g.73489701G>A | CA347263973 | ALMS1 | c.7361G>A (p.Ser2454Asn) c.753G>A c.4813G>A c.1808G>A (p.Ser603Asn) c.7742G>A (p.Ser2581Asn) c.896-30074G>A c.2573G>A (p.Ser858Asn) c.7616G>A (p.Ser2539Asn) n.1545G>A c.7745G>A (p.Ser2582Asn) | ClinVar |
2 | g.73489701G>C | CA347263972 | ALMS1 | c.7361G>C (p.Ser2454Thr) c.753G>C c.4813G>C c.1808G>C (p.Ser603Thr) c.7742G>C (p.Ser2581Thr) c.896-30074G>C c.2573G>C (p.Ser858Thr) c.7616G>C (p.Ser2539Thr) n.1545G>C c.7745G>C (p.Ser2582Thr) | |
2 | g.73489701G>T | CA347263971 | ALMS1 | c.7361G>T (p.Ser2454Ile) c.753G>T c.4813G>T c.1808G>T (p.Ser603Ile) c.7742G>T (p.Ser2581Ile) c.896-30074G>T c.2573G>T (p.Ser858Ile) c.7616G>T (p.Ser2539Ile) n.1545G>T c.7745G>T (p.Ser2582Ile) | |
2 | g.73489702C>A | CA347263974 | ALMS1 | c.7362C>A (p.Ser2454Arg) c.754C>A c.4814C>A c.1809C>A (p.Ser603Arg) c.7743C>A (p.Ser2581Arg) c.896-30073C>A c.2574C>A (p.Ser858Arg) c.7617C>A (p.Ser2539Arg) n.1546C>A c.7746C>A (p.Ser2582Arg) | ClinVar dbSNP gnomAD v2 |
2 | g.73489702C= | CA1260981112 | ALMS1 | c.7362C= (p.Ser2454=) c.754C= c.4814C= c.1809C= (p.Ser603=) c.7743C= (p.Ser2581=) c.896-30073C= c.2574C= (p.Ser858=) c.7617C= (p.Ser2539=) n.1546C= c.7746C= (p.Ser2582=) | |
2 | g.73489702C>G | CA347263975 | ALMS1 | c.7362C>G (p.Ser2454Arg) c.754C>G c.4814C>G c.1809C>G (p.Ser603Arg) c.7743C>G (p.Ser2581Arg) c.896-30073C>G c.2574C>G (p.Ser858Arg) c.7617C>G (p.Ser2539Arg) n.1546C>G c.7746C>G (p.Ser2582Arg) | |
2 | g.73489702C>T | CA1714336 | ALMS1 | c.7362C>T (p.Ser2454=) c.754C>T c.4814C>T c.1809C>T (p.Ser603=) c.7743C>T (p.Ser2581=) c.896-30073C>T c.2574C>T (p.Ser858=) c.7617C>T (p.Ser2539=) n.1546C>T c.7746C>T (p.Ser2582=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489703C>A | CA347263976 | ALMS1 | c.7363C>A (p.His2455Asn) c.755C>A c.4815C>A c.1810C>A (p.His604Asn) c.7744C>A (p.His2582Asn) c.896-30072C>A c.2575C>A (p.His859Asn) c.7618C>A (p.His2540Asn) n.1547C>A c.7747C>A (p.His2583Asn) | |
2 | g.73489703C>G | CA347263977 | ALMS1 | c.7363C>G (p.His2455Asp) c.755C>G c.4815C>G c.1810C>G (p.His604Asp) c.7744C>G (p.His2582Asp) c.896-30072C>G c.2575C>G (p.His859Asp) c.7618C>G (p.His2540Asp) n.1547C>G c.7747C>G (p.His2583Asp) | |
2 | g.73489703C>T | CA347263978 | ALMS1 | c.7363C>T (p.His2455Tyr) c.755C>T c.4815C>T c.1810C>T (p.His604Tyr) c.7744C>T (p.His2582Tyr) c.896-30072C>T c.2575C>T (p.His859Tyr) c.7618C>T (p.His2540Tyr) n.1547C>T c.7747C>T (p.His2583Tyr) | ClinVar dbSNP |
2 | g.73489704A>C | CA347263979 | ALMS1 | c.7364A>C (p.His2455Pro) c.756A>C c.4816A>C c.1811A>C (p.His604Pro) c.7745A>C (p.His2582Pro) c.896-30071A>C c.2576A>C (p.His859Pro) c.7619A>C (p.His2540Pro) n.1548A>C c.7748A>C (p.His2583Pro) | |
2 | g.73489704A>G | CA347263980 | ALMS1 | c.7364A>G (p.His2455Arg) c.756A>G c.4816A>G c.1811A>G (p.His604Arg) c.7745A>G (p.His2582Arg) c.896-30071A>G c.2576A>G (p.His859Arg) c.7619A>G (p.His2540Arg) n.1548A>G c.7748A>G (p.His2583Arg) | |
2 | g.73489704A>T | CA347263981 | ALMS1 | c.7364A>T (p.His2455Leu) c.756A>T c.4816A>T c.1811A>T (p.His604Leu) c.7745A>T (p.His2582Leu) c.896-30071A>T c.2576A>T (p.His859Leu) c.7619A>T (p.His2540Leu) n.1548A>T c.7748A>T (p.His2583Leu) | |
2 | g.73489705T>A | CA347263982 | ALMS1 | c.7365T>A (p.His2455Gln) c.757T>A c.4817T>A c.1812T>A (p.His604Gln) c.7746T>A (p.His2582Gln) c.896-30070T>A c.2577T>A (p.His859Gln) c.7620T>A (p.His2540Gln) n.1549T>A c.7749T>A (p.His2583Gln) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73489705T>C | CA426765439 | ALMS1 | c.7365T>C (p.His2455=) c.757T>C c.4817T>C c.1812T>C (p.His604=) c.7746T>C (p.His2582=) c.896-30070T>C c.2577T>C (p.His859=) c.7620T>C (p.His2540=) n.1549T>C c.7749T>C (p.His2583=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489705T>G | CA347263983 | ALMS1 | c.7365T>G (p.His2455Gln) c.757T>G c.4817T>G c.1812T>G (p.His604Gln) c.7746T>G (p.His2582Gln) c.896-30070T>G c.2577T>G (p.His859Gln) c.7620T>G (p.His2540Gln) n.1549T>G c.7749T>G (p.His2583Gln) | |
2 | g.73489705T= | CA1260981113 | ALMS1 | c.7365T= (p.His2455=) c.757T= c.4817T= c.1812T= (p.His604=) c.7746T= (p.His2582=) c.896-30070T= c.2577T= (p.His859=) c.7620T= (p.His2540=) n.1549T= c.7749T= (p.His2583=) | |
2 | g.73489706G>A | CA347263984 | ALMS1 | c.7366G>A (p.Glu2456Lys) c.758G>A c.4818G>A c.1813G>A (p.Glu605Lys) c.7747G>A (p.Glu2583Lys) c.896-30069G>A c.2578G>A (p.Glu860Lys) c.7621G>A (p.Glu2541Lys) n.1550G>A c.7750G>A (p.Glu2584Lys) | |
2 | g.73489706G>C | CA347263985 | ALMS1 | c.7366G>C (p.Glu2456Gln) c.758G>C c.4818G>C c.1813G>C (p.Glu605Gln) c.7747G>C (p.Glu2583Gln) c.896-30069G>C c.2578G>C (p.Glu860Gln) c.7621G>C (p.Glu2541Gln) n.1550G>C c.7750G>C (p.Glu2584Gln) | |
2 | g.73489706G>T | CA347263986 | ALMS1 | c.7366G>T (p.Glu2456Ter) c.758G>T c.4818G>T c.1813G>T (p.Glu605Ter) c.7747G>T (p.Glu2583Ter) c.896-30069G>T c.2578G>T (p.Glu860Ter) c.7621G>T (p.Glu2541Ter) n.1550G>T c.7750G>T (p.Glu2584Ter) | |
2 | g.73489707A= | CA1260981114 | ALMS1 | c.7367A= (p.Glu2456=) c.759A= c.4819A= c.1814A= (p.Glu605=) c.7748A= (p.Glu2583=) c.896-30068A= c.2579A= (p.Glu860=) c.7622A= (p.Glu2541=) n.1551A= c.7751A= (p.Glu2584=) | |
2 | g.73489707A>C | CA347263988 | ALMS1 | c.7367A>C (p.Glu2456Ala) c.759A>C c.4819A>C c.1814A>C (p.Glu605Ala) c.7748A>C (p.Glu2583Ala) c.896-30068A>C c.2579A>C (p.Glu860Ala) c.7622A>C (p.Glu2541Ala) n.1551A>C c.7751A>C (p.Glu2584Ala) | |
2 | g.73489707A>G | CA1714337 | ALMS1 | c.7367A>G (p.Glu2456Gly) c.759A>G c.4819A>G c.1814A>G (p.Glu605Gly) c.7748A>G (p.Glu2583Gly) c.896-30068A>G c.2579A>G (p.Glu860Gly) c.7622A>G (p.Glu2541Gly) n.1551A>G c.7751A>G (p.Glu2584Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73489707A>T | CA347263987 | ALMS1 | c.7367A>T (p.Glu2456Val) c.759A>T c.4819A>T c.1814A>T (p.Glu605Val) c.7748A>T (p.Glu2583Val) c.896-30068A>T c.2579A>T (p.Glu860Val) c.7622A>T (p.Glu2541Val) n.1551A>T c.7751A>T (p.Glu2584Val) | |
2 | g.73489710del | CA2697548275 | ALMS1 | c.7370del (p.Lys2457ArgfsTer7) c.762del c.4822del c.1817del (p.Lys606ArgfsTer7) c.7751del (p.Lys2584ArgfsTer7) c.896-30065del c.2582del (p.Lys861ArgfsTer7) c.7625del (p.Lys2542ArgfsTer7) n.1554del c.7754del (p.Lys2585ArgfsTer7) | ClinVar |
2 | g.73489708A>C | CA347263989 | ALMS1 | c.7368A>C (p.Glu2456Asp) c.760A>C c.4820A>C c.1815A>C (p.Glu605Asp) c.7749A>C (p.Glu2583Asp) c.896-30067A>C c.2580A>C (p.Glu860Asp) c.7623A>C (p.Glu2541Asp) n.1552A>C c.7752A>C (p.Glu2584Asp) | |
2 | g.73489708A>G | CA426765450 | ALMS1 | c.7368A>G (p.Glu2456=) c.760A>G c.4820A>G c.1815A>G (p.Glu605=) c.7749A>G (p.Glu2583=) c.896-30067A>G c.2580A>G (p.Glu860=) c.7623A>G (p.Glu2541=) n.1552A>G c.7752A>G (p.Glu2584=) | |
2 | g.73489708A>T | CA347263990 | ALMS1 | c.7368A>T (p.Glu2456Asp) c.760A>T c.4820A>T c.1815A>T (p.Glu605Asp) c.7749A>T (p.Glu2583Asp) c.896-30067A>T c.2580A>T (p.Glu860Asp) c.7623A>T (p.Glu2541Asp) n.1552A>T c.7752A>T (p.Glu2584Asp) | |
2 | g.73489709A= | CA1260981115 | ALMS1 | c.7369A= (p.Lys2457=) c.761A= c.4821A= c.1816A= (p.Lys606=) c.7750A= (p.Lys2584=) c.896-30066A= c.2581A= (p.Lys861=) c.7624A= (p.Lys2542=) n.1553A= c.7753A= (p.Lys2585=) | |
2 | g.73489709A>C | CA347263991 | ALMS1 | c.7369A>C (p.Lys2457Gln) c.761A>C c.4821A>C c.1816A>C (p.Lys606Gln) c.7750A>C (p.Lys2584Gln) c.896-30066A>C c.2581A>C (p.Lys861Gln) c.7624A>C (p.Lys2542Gln) n.1553A>C c.7753A>C (p.Lys2585Gln) | |
2 | g.73489709A>G | CA1714338 | ALMS1 | c.7369A>G (p.Lys2457Glu) c.761A>G c.4821A>G c.1816A>G (p.Lys606Glu) c.7750A>G (p.Lys2584Glu) c.896-30066A>G c.2581A>G (p.Lys861Glu) c.7624A>G (p.Lys2542Glu) n.1553A>G c.7753A>G (p.Lys2585Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73489709A>T | CA347263992 | ALMS1 | c.7369A>T (p.Lys2457Ter) c.761A>T c.4821A>T c.1816A>T (p.Lys606Ter) c.7750A>T (p.Lys2584Ter) c.896-30066A>T c.2581A>T (p.Lys861Ter) c.7624A>T (p.Lys2542Ter) n.1553A>T c.7753A>T (p.Lys2585Ter) | |
2 | g.73489710A>C | CA347263995 | ALMS1 | c.7370A>C (p.Lys2457Thr) c.762A>C c.4822A>C c.1817A>C (p.Lys606Thr) c.7751A>C (p.Lys2584Thr) c.896-30065A>C c.2582A>C (p.Lys861Thr) c.7625A>C (p.Lys2542Thr) n.1554A>C c.7754A>C (p.Lys2585Thr) | |
2 | g.73489710A>G | CA347263994 | ALMS1 | c.7370A>G (p.Lys2457Arg) c.762A>G c.4822A>G c.1817A>G (p.Lys606Arg) c.7751A>G (p.Lys2584Arg) c.896-30065A>G c.2582A>G (p.Lys861Arg) c.7625A>G (p.Lys2542Arg) n.1554A>G c.7754A>G (p.Lys2585Arg) | |
2 | g.73489710A>T | CA347263993 | ALMS1 | c.7370A>T (p.Lys2457Met) c.762A>T c.4822A>T c.1817A>T (p.Lys606Met) c.7751A>T (p.Lys2584Met) c.896-30065A>T c.2582A>T (p.Lys861Met) c.7625A>T (p.Lys2542Met) n.1554A>T c.7754A>T (p.Lys2585Met) | |
2 | g.73489711G>A | CA1714339 | ALMS1 | c.7371G>A (p.Lys2457=) c.763G>A c.4823G>A c.1818G>A (p.Lys606=) c.7752G>A (p.Lys2584=) c.896-30064G>A c.2583G>A (p.Lys861=) c.7626G>A (p.Lys2542=) n.1555G>A c.7755G>A (p.Lys2585=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489711G>C | CA1714340 | ALMS1 | c.7371G>C (p.Lys2457Asn) c.763G>C c.4823G>C c.1818G>C (p.Lys606Asn) c.7752G>C (p.Lys2584Asn) c.896-30064G>C c.2583G>C (p.Lys861Asn) c.7626G>C (p.Lys2542Asn) n.1555G>C c.7755G>C (p.Lys2585Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73489711G= | CA1260981116 | ALMS1 | c.7371G= (p.Lys2457=) c.763G= c.4823G= c.1818G= (p.Lys606=) c.7752G= (p.Lys2584=) c.896-30064G= c.2583G= (p.Lys861=) c.7626G= (p.Lys2542=) n.1555G= c.7755G= (p.Lys2585=) | |
2 | g.73489711G>T | CA347263996 | ALMS1 | c.7371G>T (p.Lys2457Asn) c.763G>T c.4823G>T c.1818G>T (p.Lys606Asn) c.7752G>T (p.Lys2584Asn) c.896-30064G>T c.2583G>T (p.Lys861Asn) c.7626G>T (p.Lys2542Asn) n.1555G>T c.7755G>T (p.Lys2585Asn) | |
2 | g.73489712G>A | CA347263997 | ALMS1 | c.7372G>A (p.Gly2458Arg) c.764G>A c.4824G>A c.1819G>A (p.Gly607Arg) c.7753G>A (p.Gly2585Arg) c.896-30063G>A c.2584G>A (p.Gly862Arg) c.7627G>A (p.Gly2543Arg) n.1556G>A c.7756G>A (p.Gly2586Arg) | |
2 | g.73489712G>C | CA347263998 | ALMS1 | c.7372G>C (p.Gly2458Arg) c.764G>C c.4824G>C c.1819G>C (p.Gly607Arg) c.7753G>C (p.Gly2585Arg) c.896-30063G>C c.2584G>C (p.Gly862Arg) c.7627G>C (p.Gly2543Arg) n.1556G>C c.7756G>C (p.Gly2586Arg) | ClinVar dbSNP gnomAD v4 |
2 | g.73489712G= | CA1260981117 | ALMS1 | c.7372G= (p.Gly2458=) c.764G= c.4824G= c.1819G= (p.Gly607=) c.7753G= (p.Gly2585=) c.896-30063G= c.2584G= (p.Gly862=) c.7627G= (p.Gly2543=) n.1556G= c.7756G= (p.Gly2586=) | |
2 | g.73489712G>T | CA347263999 | ALMS1 | c.7372G>T (p.Gly2458Ter) c.764G>T c.4824G>T c.1819G>T (p.Gly607Ter) c.7753G>T (p.Gly2585Ter) c.896-30063G>T c.2584G>T (p.Gly862Ter) c.7627G>T (p.Gly2543Ter) n.1556G>T c.7756G>T (p.Gly2586Ter) | |
2 | g.73489713G>A | CA347264000 | ALMS1 | c.7373G>A (p.Gly2458Glu) c.765G>A c.4825G>A c.1820G>A (p.Gly607Glu) c.7754G>A (p.Gly2585Glu) c.896-30062G>A c.2585G>A (p.Gly862Glu) c.7628G>A (p.Gly2543Glu) n.1557G>A c.7757G>A (p.Gly2586Glu) | |
2 | g.73489713G>C | CA1714341 | ALMS1 | c.7373G>C (p.Gly2458Ala) c.765G>C c.4825G>C c.1820G>C (p.Gly607Ala) c.7754G>C (p.Gly2585Ala) c.896-30062G>C c.2585G>C (p.Gly862Ala) c.7628G>C (p.Gly2543Ala) n.1557G>C c.7757G>C (p.Gly2586Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73489713G= | CA1260981118 | ALMS1 | c.7373G= (p.Gly2458=) c.765G= c.4825G= c.1820G= (p.Gly607=) c.7754G= (p.Gly2585=) c.896-30062G= c.2585G= (p.Gly862=) c.7628G= (p.Gly2543=) n.1557G= c.7757G= (p.Gly2586=) | |
2 | g.73489713G>T | CA347264001 | ALMS1 | c.7373G>T (p.Gly2458Val) c.765G>T c.4825G>T c.1820G>T (p.Gly607Val) c.7754G>T (p.Gly2585Val) c.896-30062G>T c.2585G>T (p.Gly862Val) c.7628G>T (p.Gly2543Val) n.1557G>T c.7757G>T (p.Gly2586Val) | |
2 | g.73489714A= | CA1260981120 | ALMS1 | c.7374A= (p.Gly2458=) c.766A= c.4826A= c.1821A= (p.Gly607=) c.7755A= (p.Gly2585=) c.896-30061A= c.2586A= (p.Gly862=) c.7629A= (p.Gly2543=) n.1558A= c.7758A= (p.Gly2586=) | |
2 | g.73489714A>C | CA426765494 | ALMS1 | c.7374A>C (p.Gly2458=) c.766A>C c.4826A>C c.1821A>C (p.Gly607=) c.7755A>C (p.Gly2585=) c.896-30061A>C c.2586A>C (p.Gly862=) c.7629A>C (p.Gly2543=) n.1558A>C c.7758A>C (p.Gly2586=) | |
2 | g.73489714A>G | CA426765488 | ALMS1 | c.7374A>G (p.Gly2458=) c.766A>G c.4826A>G c.1821A>G (p.Gly607=) c.7755A>G (p.Gly2585=) c.896-30061A>G c.2586A>G (p.Gly862=) c.7629A>G (p.Gly2543=) n.1558A>G c.7758A>G (p.Gly2586=) | ClinVar dbSNP |
2 | g.73489714A>T | CA426765486 | ALMS1 | c.7374A>T (p.Gly2458=) c.766A>T c.4826A>T c.1821A>T (p.Gly607=) c.7755A>T (p.Gly2585=) c.896-30061A>T c.2586A>T (p.Gly862=) c.7629A>T (p.Gly2543=) n.1558A>T c.7758A>T (p.Gly2586=) | gnomAD v4 |
2 | g.73489714_73489716delinsATG | CA1260981119 | ALMS1 | c.7374_7376delinsATG (p.Gly2458=) c.766_768delinsATG c.4826_4828delinsATG c.1821_1823delinsATG (p.Gly607=) c.7755_7757delinsATG (p.Gly2585=) c.896-30061_896-30059delinsATG c.2586_2588delinsATG (p.Gly862=) c.7629_7631delinsATG (p.Gly2543=) n.1558_1560delinsATG c.7758_7760delinsATG (p.Gly2586=) | |
2 | g.73489715T>A | CA347264002 | ALMS1 | c.7375T>A (p.Cys2459Ser) c.767T>A c.4827T>A c.1822T>A (p.Cys608Ser) c.7756T>A (p.Cys2586Ser) c.896-30060T>A c.2587T>A (p.Cys863Ser) c.7630T>A (p.Cys2544Ser) n.1559T>A c.7759T>A (p.Cys2587Ser) | ClinVar dbSNP |
2 | g.73489715T>C | CA347264003 | ALMS1 | c.7375T>C (p.Cys2459Arg) c.767T>C c.4827T>C c.1822T>C (p.Cys608Arg) c.7756T>C (p.Cys2586Arg) c.896-30060T>C c.2587T>C (p.Cys863Arg) c.7630T>C (p.Cys2544Arg) n.1559T>C c.7759T>C (p.Cys2587Arg) | |
2 | g.73489715T>G | CA347264004 | ALMS1 | c.7375T>G (p.Cys2459Gly) c.767T>G c.4827T>G c.1822T>G (p.Cys608Gly) c.7756T>G (p.Cys2586Gly) c.896-30060T>G c.2587T>G (p.Cys863Gly) c.7630T>G (p.Cys2544Gly) n.1559T>G c.7759T>G (p.Cys2587Gly) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73489715T= | CA1260981121 | ALMS1 | c.7375T= (p.Cys2459=) c.767T= c.4827T= c.1822T= (p.Cys608=) c.7756T= (p.Cys2586=) c.896-30060T= c.2587T= (p.Cys863=) c.7630T= (p.Cys2544=) n.1559T= c.7759T= (p.Cys2587=) | |
2 | g.73489716_73489717del | CA534125620 | ALMS1 | c.7376_7377del (p.Cys2459PhefsTer7) c.768_769del c.4828_4829del c.1823_1824del (p.Cys608PhefsTer7) c.7757_7758del (p.Cys2586PhefsTer7) c.896-30059_896-30058del c.2588_2589del (p.Cys863PhefsTer7) c.7631_7632del (p.Cys2544PhefsTer7) n.1560_1561del c.7760_7761del (p.Cys2587PhefsTer7) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489716del | CA2586969422 | ALMS1 | c.7376del (p.Cys2459PhefsTer5) c.768del c.4828del c.1823del (p.Cys608PhefsTer5) c.7757del (p.Cys2586PhefsTer5) c.896-30059del c.2588del (p.Cys863PhefsTer5) c.7631del (p.Cys2544PhefsTer5) n.1560del c.7760del (p.Cys2587PhefsTer5) | |
2 | g.73489716G>A | CA347264005 | ALMS1 | c.7376G>A (p.Cys2459Tyr) c.768G>A c.4828G>A c.1823G>A (p.Cys608Tyr) c.7757G>A (p.Cys2586Tyr) c.896-30059G>A c.2588G>A (p.Cys863Tyr) c.7631G>A (p.Cys2544Tyr) n.1560G>A c.7760G>A (p.Cys2587Tyr) | dbSNP |
2 | g.73489716G>C | CA347264006 | ALMS1 | c.7376G>C (p.Cys2459Ser) c.768G>C c.4828G>C c.1823G>C (p.Cys608Ser) c.7757G>C (p.Cys2586Ser) c.896-30059G>C c.2588G>C (p.Cys863Ser) c.7631G>C (p.Cys2544Ser) n.1560G>C c.7760G>C (p.Cys2587Ser) | |
2 | g.73489716G= | CA1260981122 | ALMS1 | c.7376G= (p.Cys2459=) c.768G= c.4828G= c.1823G= (p.Cys608=) c.7757G= (p.Cys2586=) c.896-30059G= c.2588G= (p.Cys863=) c.7631G= (p.Cys2544=) n.1560G= c.7760G= (p.Cys2587=) | |
2 | g.73489716G>T | CA347264007 | ALMS1 | c.7376G>T (p.Cys2459Phe) c.768G>T c.4828G>T c.1823G>T (p.Cys608Phe) c.7757G>T (p.Cys2586Phe) c.896-30059G>T c.2588G>T (p.Cys863Phe) c.7631G>T (p.Cys2544Phe) n.1560G>T c.7760G>T (p.Cys2587Phe) | |
2 | g.73489717T>A | CA347264008 | ALMS1 | c.7377T>A (p.Cys2459Ter) c.769T>A c.4829T>A c.1824T>A (p.Cys608Ter) c.7758T>A (p.Cys2586Ter) c.896-30058T>A c.2589T>A (p.Cys863Ter) c.7632T>A (p.Cys2544Ter) n.1561T>A c.7761T>A (p.Cys2587Ter) | |
2 | g.73489717T>C | CA426765514 | ALMS1 | c.7377T>C (p.Cys2459=) c.769T>C c.4829T>C c.1824T>C (p.Cys608=) c.7758T>C (p.Cys2586=) c.896-30058T>C c.2589T>C (p.Cys863=) c.7632T>C (p.Cys2544=) n.1561T>C c.7761T>C (p.Cys2587=) | |
2 | g.73489717T>G | CA347264009 | ALMS1 | c.7377T>G (p.Cys2459Trp) c.769T>G c.4829T>G c.1824T>G (p.Cys608Trp) c.7758T>G (p.Cys2586Trp) c.896-30058T>G c.2589T>G (p.Cys863Trp) c.7632T>G (p.Cys2544Trp) n.1561T>G c.7761T>G (p.Cys2587Trp) | |
2 | g.73489718T>A | CA347264010 | ALMS1 | c.7378T>A (p.Phe2460Ile) c.770T>A c.4830T>A c.1825T>A (p.Phe609Ile) c.7759T>A (p.Phe2587Ile) c.896-30057T>A c.2590T>A (p.Phe864Ile) c.7633T>A (p.Phe2545Ile) n.1562T>A c.7762T>A (p.Phe2588Ile) | |
2 | g.73489718T>C | CA347264011 | ALMS1 | c.7378T>C (p.Phe2460Leu) c.770T>C c.4830T>C c.1825T>C (p.Phe609Leu) c.7759T>C (p.Phe2587Leu) c.896-30057T>C c.2590T>C (p.Phe864Leu) c.7633T>C (p.Phe2545Leu) n.1562T>C c.7762T>C (p.Phe2588Leu) | |
2 | g.73489718T>G | CA347264012 | ALMS1 | c.7378T>G (p.Phe2460Val) c.770T>G c.4830T>G c.1825T>G (p.Phe609Val) c.7759T>G (p.Phe2587Val) c.896-30057T>G c.2590T>G (p.Phe864Val) c.7633T>G (p.Phe2545Val) n.1562T>G c.7762T>G (p.Phe2588Val) | |
2 | g.73489719T>A | CA1714342 | ALMS1 | c.7379T>A (p.Phe2460Tyr) c.771T>A c.4831T>A c.1826T>A (p.Phe609Tyr) c.7760T>A (p.Phe2587Tyr) c.896-30056T>A c.2591T>A (p.Phe864Tyr) c.7634T>A (p.Phe2545Tyr) n.1563T>A c.7763T>A (p.Phe2588Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73489719T>C | CA347264014 | ALMS1 | c.7379T>C (p.Phe2460Ser) c.771T>C c.4831T>C c.1826T>C (p.Phe609Ser) c.7760T>C (p.Phe2587Ser) c.896-30056T>C c.2591T>C (p.Phe864Ser) c.7634T>C (p.Phe2545Ser) n.1563T>C c.7763T>C (p.Phe2588Ser) | |
2 | g.73489719T>G | CA347264013 | ALMS1 | c.7379T>G (p.Phe2460Cys) c.771T>G c.4831T>G c.1826T>G (p.Phe609Cys) c.7760T>G (p.Phe2587Cys) c.896-30056T>G c.2591T>G (p.Phe864Cys) c.7634T>G (p.Phe2545Cys) n.1563T>G c.7763T>G (p.Phe2588Cys) | |
2 | g.73489719T= | CA1260981123 | ALMS1 | c.7379T= (p.Phe2460=) c.771T= c.4831T= c.1826T= (p.Phe609=) c.7760T= (p.Phe2587=) c.896-30056T= c.2591T= (p.Phe864=) c.7634T= (p.Phe2545=) n.1563T= c.7763T= (p.Phe2588=) | |
2 | g.73489720C>A | CA347264015 | ALMS1 | c.7380C>A (p.Phe2460Leu) c.772C>A c.4832C>A c.1827C>A (p.Phe609Leu) c.7761C>A (p.Phe2587Leu) c.896-30055C>A c.2592C>A (p.Phe864Leu) c.7635C>A (p.Phe2545Leu) n.1564C>A c.7764C>A (p.Phe2588Leu) | |
2 | g.73489720C= | CA1260981124 | ALMS1 | c.7380C= (p.Phe2460=) c.772C= c.4832C= c.1827C= (p.Phe609=) c.7761C= (p.Phe2587=) c.896-30055C= c.2592C= (p.Phe864=) c.7635C= (p.Phe2545=) n.1564C= c.7764C= (p.Phe2588=) | |
2 | g.73489720C>G | CA347264016 | ALMS1 | c.7380C>G (p.Phe2460Leu) c.772C>G c.4832C>G c.1827C>G (p.Phe609Leu) c.7761C>G (p.Phe2587Leu) c.896-30055C>G c.2592C>G (p.Phe864Leu) c.7635C>G (p.Phe2545Leu) n.1564C>G c.7764C>G (p.Phe2588Leu) | |
2 | g.73489720C>T | CA426765531 | ALMS1 | c.7380C>T (p.Phe2460=) c.772C>T c.4832C>T c.1827C>T (p.Phe609=) c.7761C>T (p.Phe2587=) c.896-30055C>T c.2592C>T (p.Phe864=) c.7635C>T (p.Phe2545=) n.1564C>T c.7764C>T (p.Phe2588=) | ClinVar dbSNP gnomAD v4 |
2 | g.73489721C>A | CA426765533 | ALMS1 | c.7381C>A (p.Arg2461=) c.773C>A c.4833C>A c.1828C>A (p.Arg610=) c.7762C>A (p.Arg2588=) c.896-30054C>A c.2593C>A (p.Arg865=) c.7636C>A (p.Arg2546=) n.1565C>A c.7765C>A (p.Arg2589=) | |
2 | g.73489721C= | CA1260981125 | ALMS1 | c.7381C= (p.Arg2461=) c.773C= c.4833C= c.1828C= (p.Arg610=) c.7762C= (p.Arg2588=) c.896-30054C= c.2593C= (p.Arg865=) c.7636C= (p.Arg2546=) n.1565C= c.7765C= (p.Arg2589=) | |
2 | g.73489721C>G | CA347264017 | ALMS1 | c.7381C>G (p.Arg2461Gly) c.773C>G c.4833C>G c.1828C>G (p.Arg610Gly) c.7762C>G (p.Arg2588Gly) c.896-30054C>G c.2593C>G (p.Arg865Gly) c.7636C>G (p.Arg2546Gly) n.1565C>G c.7765C>G (p.Arg2589Gly) | |
2 | g.73489721C>T | CA1714343 | ALMS1 | c.7381C>T (p.Arg2461Trp) c.773C>T c.4833C>T c.1828C>T (p.Arg610Trp) c.7762C>T (p.Arg2588Trp) c.896-30054C>T c.2593C>T (p.Arg865Trp) c.7636C>T (p.Arg2546Trp) n.1565C>T c.7765C>T (p.Arg2589Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489722G>A | CA1714344 | ALMS1 | c.7382G>A (p.Arg2461Gln) c.774G>A c.4834G>A c.1829G>A (p.Arg610Gln) c.7763G>A (p.Arg2588Gln) c.896-30053G>A c.2594G>A (p.Arg865Gln) c.7637G>A (p.Arg2546Gln) n.1566G>A c.7766G>A (p.Arg2589Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489722G>C | CA347264018 | ALMS1 | c.7382G>C (p.Arg2461Pro) c.774G>C c.4834G>C c.1829G>C (p.Arg610Pro) c.7763G>C (p.Arg2588Pro) c.896-30053G>C c.2594G>C (p.Arg865Pro) c.7637G>C (p.Arg2546Pro) n.1566G>C c.7766G>C (p.Arg2589Pro) | |
2 | g.73489722G= | CA1260981126 | ALMS1 | c.7382G= (p.Arg2461=) c.774G= c.4834G= c.1829G= (p.Arg610=) c.7763G= (p.Arg2588=) c.896-30053G= c.2594G= (p.Arg865=) c.7637G= (p.Arg2546=) n.1566G= c.7766G= (p.Arg2589=) | |
2 | g.73489722G>T | CA347264019 | ALMS1 | c.7382G>T (p.Arg2461Leu) c.774G>T c.4834G>T c.1829G>T (p.Arg610Leu) c.7763G>T (p.Arg2588Leu) c.896-30053G>T c.2594G>T (p.Arg865Leu) c.7637G>T (p.Arg2546Leu) n.1566G>T c.7766G>T (p.Arg2589Leu) | |
2 | g.73489723G>A | CA1714345 | ALMS1 | c.7383G>A (p.Arg2461=) c.775G>A c.4835G>A c.1830G>A (p.Arg610=) c.7764G>A (p.Arg2588=) c.896-30052G>A c.2595G>A (p.Arg865=) c.7638G>A (p.Arg2546=) n.1567G>A c.7767G>A (p.Arg2589=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489723G>C | CA426765540 | ALMS1 | c.7383G>C (p.Arg2461=) c.775G>C c.4835G>C c.1830G>C (p.Arg610=) c.7764G>C (p.Arg2588=) c.896-30052G>C c.2595G>C (p.Arg865=) c.7638G>C (p.Arg2546=) n.1567G>C c.7767G>C (p.Arg2589=) | |
2 | g.73489723G= | CA1260981127 | ALMS1 | c.7383G= (p.Arg2461=) c.775G= c.4835G= c.1830G= (p.Arg610=) c.7764G= (p.Arg2588=) c.896-30052G= c.2595G= (p.Arg865=) c.7638G= (p.Arg2546=) n.1567G= c.7767G= (p.Arg2589=) | |
2 | g.73489723G>T | CA426765543 | ALMS1 | c.7383G>T (p.Arg2461=) c.775G>T c.4835G>T c.1830G>T (p.Arg610=) c.7764G>T (p.Arg2588=) c.896-30052G>T c.2595G>T (p.Arg865=) c.7638G>T (p.Arg2546=) n.1567G>T c.7767G>T (p.Arg2589=) | |
2 | g.73489724A>C | CA347264020 | ALMS1 | c.7384A>C (p.Thr2462Pro) c.776A>C c.4836A>C c.1831A>C (p.Thr611Pro) c.7765A>C (p.Thr2589Pro) c.896-30051A>C c.2596A>C (p.Thr866Pro) c.7639A>C (p.Thr2547Pro) n.1568A>C c.7768A>C (p.Thr2590Pro) | |
2 | g.73489724A>G | CA347264021 | ALMS1 | c.7384A>G (p.Thr2462Ala) c.776A>G c.4836A>G c.1831A>G (p.Thr611Ala) c.7765A>G (p.Thr2589Ala) c.896-30051A>G c.2596A>G (p.Thr866Ala) c.7639A>G (p.Thr2547Ala) n.1568A>G c.7768A>G (p.Thr2590Ala) | gnomAD v4 |
2 | g.73489724A>T | CA347264022 | ALMS1 | c.7384A>T (p.Thr2462Ser) c.776A>T c.4836A>T c.1831A>T (p.Thr611Ser) c.7765A>T (p.Thr2589Ser) c.896-30051A>T c.2596A>T (p.Thr866Ser) c.7639A>T (p.Thr2547Ser) n.1568A>T c.7768A>T (p.Thr2590Ser) | |
2 | g.73489725C>A | CA347264023 | ALMS1 | c.7385C>A (p.Thr2462Asn) c.777C>A c.4837C>A c.1832C>A (p.Thr611Asn) c.7766C>A (p.Thr2589Asn) c.896-30050C>A c.2597C>A (p.Thr866Asn) c.7640C>A (p.Thr2547Asn) n.1569C>A c.7769C>A (p.Thr2590Asn) | |
2 | g.73489725C>G | CA347264024 | ALMS1 | c.7385C>G (p.Thr2462Ser) c.777C>G c.4837C>G c.1832C>G (p.Thr611Ser) c.7766C>G (p.Thr2589Ser) c.896-30050C>G c.2597C>G (p.Thr866Ser) c.7640C>G (p.Thr2547Ser) n.1569C>G c.7769C>G (p.Thr2590Ser) | |
2 | g.73489725C>T | CA347264025 | ALMS1 | c.7385C>T (p.Thr2462Ile) c.777C>T c.4837C>T c.1832C>T (p.Thr611Ile) c.7766C>T (p.Thr2589Ile) c.896-30050C>T c.2597C>T (p.Thr866Ile) c.7640C>T (p.Thr2547Ile) n.1569C>T c.7769C>T (p.Thr2590Ile) | |
2 | g.73489726T>A | CA426765569 | ALMS1 | c.7386T>A (p.Thr2462=) c.778T>A c.4838T>A c.1833T>A (p.Thr611=) c.7767T>A (p.Thr2589=) c.896-30049T>A c.2598T>A (p.Thr866=) c.7641T>A (p.Thr2547=) n.1570T>A c.7770T>A (p.Thr2590=) | |
2 | g.73489726T>C | CA426765570 | ALMS1 | c.7386T>C (p.Thr2462=) c.778T>C c.4838T>C c.1833T>C (p.Thr611=) c.7767T>C (p.Thr2589=) c.896-30049T>C c.2598T>C (p.Thr866=) c.7641T>C (p.Thr2547=) n.1570T>C c.7770T>C (p.Thr2590=) | |
2 | g.73489726T>G | CA426765572 | ALMS1 | c.7386T>G (p.Thr2462=) c.778T>G c.4838T>G c.1833T>G (p.Thr611=) c.7767T>G (p.Thr2589=) c.896-30049T>G c.2598T>G (p.Thr866=) c.7641T>G (p.Thr2547=) n.1570T>G c.7770T>G (p.Thr2590=) | |
2 | g.73489727C>A | CA347264026 | ALMS1 | c.7387C>A (p.Leu2463Ile) c.779C>A c.4839C>A c.1834C>A (p.Leu612Ile) c.7768C>A (p.Leu2590Ile) c.896-30048C>A c.2599C>A (p.Leu867Ile) c.7642C>A (p.Leu2548Ile) n.1571C>A c.7771C>A (p.Leu2591Ile) | |
2 | g.73489727C= | CA1260981128 | ALMS1 | c.7387C= (p.Leu2463=) c.779C= c.4839C= c.1834C= (p.Leu612=) c.7768C= (p.Leu2590=) c.896-30048C= c.2599C= (p.Leu867=) c.7642C= (p.Leu2548=) n.1571C= c.7771C= (p.Leu2591=) | |
2 | g.73489727C>G | CA1714346 | ALMS1 | c.7387C>G (p.Leu2463Val) c.779C>G c.4839C>G c.1834C>G (p.Leu612Val) c.7768C>G (p.Leu2590Val) c.896-30048C>G c.2599C>G (p.Leu867Val) c.7642C>G (p.Leu2548Val) n.1571C>G c.7771C>G (p.Leu2591Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489727C>T | CA426765578 | ALMS1 | c.7387C>T (p.Leu2463=) c.779C>T c.4839C>T c.1834C>T (p.Leu612=) c.7768C>T (p.Leu2590=) c.896-30048C>T c.2599C>T (p.Leu867=) c.7642C>T (p.Leu2548=) n.1571C>T c.7771C>T (p.Leu2591=) | |
2 | g.73489727_73489728insA | CA2499306990 | ALMS1 | c.7387_7388insA (p.Leu2463HisfsTer4) c.779_780insA c.4839_4840insA c.1834_1835insA (p.Leu612HisfsTer4) c.7768_7769insA (p.Leu2590HisfsTer4) c.896-30048_896-30047insA c.2599_2600insA (p.Leu867HisfsTer4) c.7642_7643insA (p.Leu2548HisfsTer4) n.1571_1572insA c.7771_7772insA (p.Leu2591HisfsTer4) | |
2 | g.73489728T>A | CA347264027 | ALMS1 | c.7388T>A (p.Leu2463Gln) c.780T>A c.4840T>A c.1835T>A (p.Leu612Gln) c.7769T>A (p.Leu2590Gln) c.896-30047T>A c.2600T>A (p.Leu867Gln) c.7643T>A (p.Leu2548Gln) n.1572T>A c.7772T>A (p.Leu2591Gln) | |
2 | g.73489728T>C | CA347264028 | ALMS1 | c.7388T>C (p.Leu2463Pro) c.780T>C c.4840T>C c.1835T>C (p.Leu612Pro) c.7769T>C (p.Leu2590Pro) c.896-30047T>C c.2600T>C (p.Leu867Pro) c.7643T>C (p.Leu2548Pro) n.1572T>C c.7772T>C (p.Leu2591Pro) | |
2 | g.73489728T>G | CA347264029 | ALMS1 | c.7388T>G (p.Leu2463Arg) c.780T>G c.4840T>G c.1835T>G (p.Leu612Arg) c.7769T>G (p.Leu2590Arg) c.896-30047T>G c.2600T>G (p.Leu867Arg) c.7643T>G (p.Leu2548Arg) n.1572T>G c.7772T>G (p.Leu2591Arg) | |
2 | g.73489728dup | CA2586969425 | ALMS1 | c.7388dup (p.Thr2464AsnfsTer3) c.780dup c.4840dup c.1835dup (p.Thr613AsnfsTer3) c.7769dup (p.Thr2591AsnfsTer3) c.896-30047dup c.2600dup (p.Thr868AsnfsTer3) c.7643dup (p.Thr2549AsnfsTer3) n.1572dup c.7772dup (p.Thr2592AsnfsTer3) | ClinVar gnomAD v4 |
2 | g.73489729A= | CA1260981129 | ALMS1 | c.7389A= (p.Leu2463=) c.781A= c.4841A= c.1836A= (p.Leu612=) c.7770A= (p.Leu2590=) c.896-30046A= c.2601A= (p.Leu867=) c.7644A= (p.Leu2548=) n.1573A= c.7773A= (p.Leu2591=) | |
2 | g.73489729A>C | CA426765598 | ALMS1 | c.7389A>C (p.Leu2463=) c.781A>C c.4841A>C c.1836A>C (p.Leu612=) c.7770A>C (p.Leu2590=) c.896-30046A>C c.2601A>C (p.Leu867=) c.7644A>C (p.Leu2548=) n.1573A>C c.7773A>C (p.Leu2591=) | ClinVar |
2 | g.73489729A>G | CA1714347 | ALMS1 | c.7389A>G (p.Leu2463=) c.781A>G c.4841A>G c.1836A>G (p.Leu612=) c.7770A>G (p.Leu2590=) c.896-30046A>G c.2601A>G (p.Leu867=) c.7644A>G (p.Leu2548=) n.1573A>G c.7773A>G (p.Leu2591=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73489729A>T | CA426765594 | ALMS1 | c.7389A>T (p.Leu2463=) c.781A>T c.4841A>T c.1836A>T (p.Leu612=) c.7770A>T (p.Leu2590=) c.896-30046A>T c.2601A>T (p.Leu867=) c.7644A>T (p.Leu2548=) n.1573A>T c.7773A>T (p.Leu2591=) | |
2 | g.73489730A= | CA1260981130 | ALMS1 | c.7390A= (p.Thr2464=) c.782A= c.4842A= c.1837A= (p.Thr613=) c.7771A= (p.Thr2591=) c.896-30045A= c.2602A= (p.Thr868=) c.7645A= (p.Thr2549=) n.1574A= c.7774A= (p.Thr2592=) | |
2 | g.73489730A>C | CA347264030 | ALMS1 | c.7390A>C (p.Thr2464Pro) c.782A>C c.4842A>C c.1837A>C (p.Thr613Pro) c.7771A>C (p.Thr2591Pro) c.896-30045A>C c.2602A>C (p.Thr868Pro) c.7645A>C (p.Thr2549Pro) n.1574A>C c.7774A>C (p.Thr2592Pro) | |
2 | g.73489730A>G | CA347264031 | ALMS1 | c.7390A>G (p.Thr2464Ala) c.782A>G c.4842A>G c.1837A>G (p.Thr613Ala) c.7771A>G (p.Thr2591Ala) c.896-30045A>G c.2602A>G (p.Thr868Ala) c.7645A>G (p.Thr2549Ala) n.1574A>G c.7774A>G (p.Thr2592Ala) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73489730A>T | CA347264032 | ALMS1 | c.7390A>T (p.Thr2464Ser) c.782A>T c.4842A>T c.1837A>T (p.Thr613Ser) c.7771A>T (p.Thr2591Ser) c.896-30045A>T c.2602A>T (p.Thr868Ser) c.7645A>T (p.Thr2549Ser) n.1574A>T c.7774A>T (p.Thr2592Ser) | |
2 | g.73489731C>A | CA347264033 | ALMS1 | c.7391C>A (p.Thr2464Asn) c.783C>A c.4843C>A c.1838C>A (p.Thr613Asn) c.7772C>A (p.Thr2591Asn) c.896-30044C>A c.2603C>A (p.Thr868Asn) c.7646C>A (p.Thr2549Asn) n.1575C>A c.7775C>A (p.Thr2592Asn) | |
2 | g.73489731C>G | CA347264034 | ALMS1 | c.7391C>G (p.Thr2464Ser) c.783C>G c.4843C>G c.1838C>G (p.Thr613Ser) c.7772C>G (p.Thr2591Ser) c.896-30044C>G c.2603C>G (p.Thr868Ser) c.7646C>G (p.Thr2549Ser) n.1575C>G c.7775C>G (p.Thr2592Ser) | ClinVar dbSNP |
2 | g.73489731C>T | CA347264035 | ALMS1 | c.7391C>T (p.Thr2464Ile) c.783C>T c.4843C>T c.1838C>T (p.Thr613Ile) c.7772C>T (p.Thr2591Ile) c.896-30044C>T c.2603C>T (p.Thr868Ile) c.7646C>T (p.Thr2549Ile) n.1575C>T c.7775C>T (p.Thr2592Ile) | |
2 | g.73489732T>A | CA426765612 | ALMS1 | c.7392T>A (p.Thr2464=) c.784T>A c.4844T>A c.1839T>A (p.Thr613=) c.7773T>A (p.Thr2591=) c.896-30043T>A c.2604T>A (p.Thr868=) c.7647T>A (p.Thr2549=) n.1576T>A c.7776T>A (p.Thr2592=) | |
2 | g.73489732T>C | CA426765609 | ALMS1 | c.7392T>C (p.Thr2464=) c.784T>C c.4844T>C c.1839T>C (p.Thr613=) c.7773T>C (p.Thr2591=) c.896-30043T>C c.2604T>C (p.Thr868=) c.7647T>C (p.Thr2549=) n.1576T>C c.7776T>C (p.Thr2592=) | |
2 | g.73489732T>G | CA426765608 | ALMS1 | c.7392T>G (p.Thr2464=) c.784T>G c.4844T>G c.1839T>G (p.Thr613=) c.7773T>G (p.Thr2591=) c.896-30043T>G c.2604T>G (p.Thr868=) c.7647T>G (p.Thr2549=) n.1576T>G c.7776T>G (p.Thr2592=) | |
2 | g.73489733T>A | CA347264036 | ALMS1 | c.7393T>A (p.Ser2465Thr) c.785T>A c.4845T>A c.1840T>A (p.Ser614Thr) c.7774T>A (p.Ser2592Thr) c.896-30042T>A c.2605T>A (p.Ser869Thr) c.7648T>A (p.Ser2550Thr) n.1577T>A c.7777T>A (p.Ser2593Thr) | |
2 | g.73489733T>C | CA347264037 | ALMS1 | c.7393T>C (p.Ser2465Pro) c.785T>C c.4845T>C c.1840T>C (p.Ser614Pro) c.7774T>C (p.Ser2592Pro) c.896-30042T>C c.2605T>C (p.Ser869Pro) c.7648T>C (p.Ser2550Pro) n.1577T>C c.7777T>C (p.Ser2593Pro) | |
2 | g.73489733T>G | CA50377445 | ALMS1 | c.7393T>G (p.Ser2465Ala) c.785T>G c.4845T>G c.1840T>G (p.Ser614Ala) c.7774T>G (p.Ser2592Ala) c.896-30042T>G c.2605T>G (p.Ser869Ala) c.7648T>G (p.Ser2550Ala) n.1577T>G c.7777T>G (p.Ser2593Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489733T= | CA1260981131 | ALMS1 | c.7393T= (p.Ser2465=) c.785T= c.4845T= c.1840T= (p.Ser614=) c.7774T= (p.Ser2592=) c.896-30042T= c.2605T= (p.Ser869=) c.7648T= (p.Ser2550=) n.1577T= c.7777T= (p.Ser2593=) | |
2 | g.73489734C>A | CA347264038 | ALMS1 | c.7394C>A (p.Ser2465Tyr) c.786C>A c.4846C>A c.1841C>A (p.Ser614Tyr) c.7775C>A (p.Ser2592Tyr) c.896-30041C>A c.2606C>A (p.Ser869Tyr) c.7649C>A (p.Ser2550Tyr) n.1578C>A c.7778C>A (p.Ser2593Tyr) | |
2 | g.73489734C>G | CA347264040 | ALMS1 | c.7394C>G (p.Ser2465Cys) c.786C>G c.4846C>G c.1841C>G (p.Ser614Cys) c.7775C>G (p.Ser2592Cys) c.896-30041C>G c.2606C>G (p.Ser869Cys) c.7649C>G (p.Ser2550Cys) n.1578C>G c.7778C>G (p.Ser2593Cys) | |
2 | g.73489734C>T | CA347264039 | ALMS1 | c.7394C>T (p.Ser2465Phe) c.786C>T c.4846C>T c.1841C>T (p.Ser614Phe) c.7775C>T (p.Ser2592Phe) c.896-30041C>T c.2606C>T (p.Ser869Phe) c.7649C>T (p.Ser2550Phe) n.1578C>T c.7778C>T (p.Ser2593Phe) | |
2 | g.73489735T>A | CA426765621 | ALMS1 | c.7395T>A (p.Ser2465=) c.787T>A c.4847T>A c.1842T>A (p.Ser614=) c.7776T>A (p.Ser2592=) c.896-30040T>A c.2607T>A (p.Ser869=) c.7650T>A (p.Ser2550=) n.1579T>A c.7779T>A (p.Ser2593=) | |
2 | g.73489735T>C | CA426765627 | ALMS1 | c.7395T>C (p.Ser2465=) c.787T>C c.4847T>C c.1842T>C (p.Ser614=) c.7776T>C (p.Ser2592=) c.896-30040T>C c.2607T>C (p.Ser869=) c.7650T>C (p.Ser2550=) n.1579T>C c.7779T>C (p.Ser2593=) | |
2 | g.73489735T>G | CA426765625 | ALMS1 | c.7395T>G (p.Ser2465=) c.787T>G c.4847T>G c.1842T>G (p.Ser614=) c.7776T>G (p.Ser2592=) c.896-30040T>G c.2607T>G (p.Ser869=) c.7650T>G (p.Ser2550=) n.1579T>G c.7779T>G (p.Ser2593=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73489735T= | CA1260981132 | ALMS1 | c.7395T= (p.Ser2465=) c.787T= c.4847T= c.1842T= (p.Ser614=) c.7776T= (p.Ser2592=) c.896-30040T= c.2607T= (p.Ser869=) c.7650T= (p.Ser2550=) n.1579T= c.7779T= (p.Ser2593=) | |
2 | g.73489736G>A | CA347264041 | ALMS1 | c.7396G>A (p.Glu2466Lys) c.788G>A c.4848G>A c.1843G>A (p.Glu615Lys) c.7777G>A (p.Glu2593Lys) c.896-30039G>A c.2608G>A (p.Glu870Lys) c.7651G>A (p.Glu2551Lys) n.1580G>A c.7780G>A (p.Glu2594Lys) | |
2 | g.73489736G>C | CA347264042 | ALMS1 | c.7396G>C (p.Glu2466Gln) c.788G>C c.4848G>C c.1843G>C (p.Glu615Gln) c.7777G>C (p.Glu2593Gln) c.896-30039G>C c.2608G>C (p.Glu870Gln) c.7651G>C (p.Glu2551Gln) n.1580G>C c.7780G>C (p.Glu2594Gln) | |
2 | g.73489736G>T | CA347264043 | ALMS1 | c.7396G>T (p.Glu2466Ter) c.788G>T c.4848G>T c.1843G>T (p.Glu615Ter) c.7777G>T (p.Glu2593Ter) c.896-30039G>T c.2608G>T (p.Glu870Ter) c.7651G>T (p.Glu2551Ter) n.1580G>T c.7780G>T (p.Glu2594Ter) | ClinVar |
2 | g.73489737A>C | CA347264044 | ALMS1 | c.7397A>C (p.Glu2466Ala) c.789A>C c.4849A>C c.1844A>C (p.Glu615Ala) c.7778A>C (p.Glu2593Ala) c.896-30038A>C c.2609A>C (p.Glu870Ala) c.7652A>C (p.Glu2551Ala) n.1581A>C c.7781A>C (p.Glu2594Ala) | |
2 | g.73489737A>G | CA347264045 | ALMS1 | c.7397A>G (p.Glu2466Gly) c.789A>G c.4849A>G c.1844A>G (p.Glu615Gly) c.7778A>G (p.Glu2593Gly) c.896-30038A>G c.2609A>G (p.Glu870Gly) c.7652A>G (p.Glu2551Gly) n.1581A>G c.7781A>G (p.Glu2594Gly) | |
2 | g.73489737A>T | CA347264046 | ALMS1 | c.7397A>T (p.Glu2466Val) c.789A>T c.4849A>T c.1844A>T (p.Glu615Val) c.7778A>T (p.Glu2593Val) c.896-30038A>T c.2609A>T (p.Glu870Val) c.7652A>T (p.Glu2551Val) n.1581A>T c.7781A>T (p.Glu2594Val) | |
2 | g.73489738A>C | CA347264047 | ALMS1 | c.7398A>C (p.Glu2466Asp) c.790A>C c.4850A>C c.1845A>C (p.Glu615Asp) c.7779A>C (p.Glu2593Asp) c.896-30037A>C c.2610A>C (p.Glu870Asp) c.7653A>C (p.Glu2551Asp) n.1582A>C c.7782A>C (p.Glu2594Asp) | |
2 | g.73489738A>G | CA426765640 | ALMS1 | c.7398A>G (p.Glu2466=) c.790A>G c.4850A>G c.1845A>G (p.Glu615=) c.7779A>G (p.Glu2593=) c.896-30037A>G c.2610A>G (p.Glu870=) c.7653A>G (p.Glu2551=) n.1582A>G c.7782A>G (p.Glu2594=) | gnomAD v4 |
2 | g.73489738A>T | CA347264048 | ALMS1 | c.7398A>T (p.Glu2466Asp) c.790A>T c.4850A>T c.1845A>T (p.Glu615Asp) c.7779A>T (p.Glu2593Asp) c.896-30037A>T c.2610A>T (p.Glu870Asp) c.7653A>T (p.Glu2551Asp) n.1582A>T c.7782A>T (p.Glu2594Asp) | |
2 | g.73489739C>A | CA347264049 | ALMS1 | c.7399C>A (p.His2467Asn) c.791C>A c.4851C>A c.1846C>A (p.His616Asn) c.7780C>A (p.His2594Asn) c.896-30036C>A c.2611C>A (p.His871Asn) c.7654C>A (p.His2552Asn) n.1583C>A c.7783C>A (p.His2595Asn) | |
2 | g.73489739C= | CA1260981133 | ALMS1 | c.7399C= (p.His2467=) c.791C= c.4851C= c.1846C= (p.His616=) c.7780C= (p.His2594=) c.896-30036C= c.2611C= (p.His871=) c.7654C= (p.His2552=) n.1583C= c.7783C= (p.His2595=) | |
2 | g.73489739C>G | CA347264050 | ALMS1 | c.7399C>G (p.His2467Asp) c.791C>G c.4851C>G c.1846C>G (p.His616Asp) c.7780C>G (p.His2594Asp) c.896-30036C>G c.2611C>G (p.His871Asp) c.7654C>G (p.His2552Asp) n.1583C>G c.7783C>G (p.His2595Asp) | |
2 | g.73489739C>T | CA1714348 | ALMS1 | c.7399C>T (p.His2467Tyr) c.791C>T c.4851C>T c.1846C>T (p.His616Tyr) c.7780C>T (p.His2594Tyr) c.896-30036C>T c.2611C>T (p.His871Tyr) c.7654C>T (p.His2552Tyr) n.1583C>T c.7783C>T (p.His2595Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489740A= | CA1260981134 | ALMS1 | c.7400A= (p.His2467=) c.792A= c.4852A= c.1847A= (p.His616=) c.7781A= (p.His2594=) c.896-30035A= c.2612A= (p.His871=) c.7655A= (p.His2552=) n.1584A= c.7784A= (p.His2595=) | |
2 | g.73489740A>C | CA347264052 | ALMS1 | c.7400A>C (p.His2467Pro) c.792A>C c.4852A>C c.1847A>C (p.His616Pro) c.7781A>C (p.His2594Pro) c.896-30035A>C c.2612A>C (p.His871Pro) c.7655A>C (p.His2552Pro) n.1584A>C c.7784A>C (p.His2595Pro) | |
2 | g.73489740A>G | CA347264051 | ALMS1 | c.7400A>G (p.His2467Arg) c.792A>G c.4852A>G c.1847A>G (p.His616Arg) c.7781A>G (p.His2594Arg) c.896-30035A>G c.2612A>G (p.His871Arg) c.7655A>G (p.His2552Arg) n.1584A>G c.7784A>G (p.His2595Arg) | gnomAD v4 |
2 | g.73489740A>T | CA50377462 | ALMS1 | c.7400A>T (p.His2467Leu) c.792A>T c.4852A>T c.1847A>T (p.His616Leu) c.7781A>T (p.His2594Leu) c.896-30035A>T c.2612A>T (p.His871Leu) c.7655A>T (p.His2552Leu) n.1584A>T c.7784A>T (p.His2595Leu) | dbSNP |
2 | g.73489741T>A | CA347264053 | ALMS1 | c.7401T>A (p.His2467Gln) c.793T>A c.4853T>A c.1848T>A (p.His616Gln) c.7782T>A (p.His2594Gln) c.896-30034T>A c.2613T>A (p.His871Gln) c.7656T>A (p.His2552Gln) n.1585T>A c.7785T>A (p.His2595Gln) | |
2 | g.73489741T>C | CA50377466 | ALMS1 | c.7401T>C (p.His2467=) c.793T>C c.4853T>C c.1848T>C (p.His616=) c.7782T>C (p.His2594=) c.896-30034T>C c.2613T>C (p.His871=) c.7656T>C (p.His2552=) n.1585T>C c.7785T>C (p.His2595=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73489741T>G | CA347264054 | ALMS1 | c.7401T>G (p.His2467Gln) c.793T>G c.4853T>G c.1848T>G (p.His616Gln) c.7782T>G (p.His2594Gln) c.896-30034T>G c.2613T>G (p.His871Gln) c.7656T>G (p.His2552Gln) n.1585T>G c.7785T>G (p.His2595Gln) | |
2 | g.73489741T= | CA1260981135 | ALMS1 | c.7401T= (p.His2467=) c.793T= c.4853T= c.1848T= (p.His616=) c.7782T= (p.His2594=) c.896-30034T= c.2613T= (p.His871=) c.7656T= (p.His2552=) n.1585T= c.7785T= (p.His2595=) | |
2 | g.73489742C>A | CA347264055 | ALMS1 | c.7402C>A (p.Pro2468Thr) c.794C>A c.4854C>A c.1849C>A (p.Pro617Thr) c.7783C>A (p.Pro2595Thr) c.896-30033C>A c.2614C>A (p.Pro872Thr) c.7657C>A (p.Pro2553Thr) n.1586C>A c.7786C>A (p.Pro2596Thr) | |
2 | g.73489742C>G | CA347264056 | ALMS1 | c.7402C>G (p.Pro2468Ala) c.794C>G c.4854C>G c.1849C>G (p.Pro617Ala) c.7783C>G (p.Pro2595Ala) c.896-30033C>G c.2614C>G (p.Pro872Ala) c.7657C>G (p.Pro2553Ala) n.1586C>G c.7786C>G (p.Pro2596Ala) | |
2 | g.73489742C>T | CA347264057 | ALMS1 | c.7402C>T (p.Pro2468Ser) c.794C>T c.4854C>T c.1849C>T (p.Pro617Ser) c.7783C>T (p.Pro2595Ser) c.896-30033C>T c.2614C>T (p.Pro872Ser) c.7657C>T (p.Pro2553Ser) n.1586C>T c.7786C>T (p.Pro2596Ser) | |
2 | g.73489743C>A | CA347264058 | ALMS1 | c.7403C>A (p.Pro2468Gln) c.795C>A c.4855C>A c.1850C>A (p.Pro617Gln) c.7784C>A (p.Pro2595Gln) c.896-30032C>A c.2615C>A (p.Pro872Gln) c.7658C>A (p.Pro2553Gln) n.1587C>A c.7787C>A (p.Pro2596Gln) | |
2 | g.73489743C>G | CA347264059 | ALMS1 | c.7403C>G (p.Pro2468Arg) c.795C>G c.4855C>G c.1850C>G (p.Pro617Arg) c.7784C>G (p.Pro2595Arg) c.896-30032C>G c.2615C>G (p.Pro872Arg) c.7658C>G (p.Pro2553Arg) n.1587C>G c.7787C>G (p.Pro2596Arg) | |
2 | g.73489743C>T | CA347264060 | ALMS1 | c.7403C>T (p.Pro2468Leu) c.795C>T c.4855C>T c.1850C>T (p.Pro617Leu) c.7784C>T (p.Pro2595Leu) c.896-30032C>T c.2615C>T (p.Pro872Leu) c.7658C>T (p.Pro2553Leu) n.1587C>T c.7787C>T (p.Pro2596Leu) | |
2 | g.73489744A= | CA1260981136 | ALMS1 | c.7404A= (p.Pro2468=) c.796A= c.4856A= c.1851A= (p.Pro617=) c.7785A= (p.Pro2595=) c.896-30031A= c.2616A= (p.Pro872=) c.7659A= (p.Pro2553=) n.1588A= c.7788A= (p.Pro2596=) | |
2 | g.73489744A>C | CA426765670 | ALMS1 | c.7404A>C (p.Pro2468=) c.796A>C c.4856A>C c.1851A>C (p.Pro617=) c.7785A>C (p.Pro2595=) c.896-30031A>C c.2616A>C (p.Pro872=) c.7659A>C (p.Pro2553=) n.1588A>C c.7788A>C (p.Pro2596=) | |
2 | g.73489744A>G | CA1714349 | ALMS1 | c.7404A>G (p.Pro2468=) c.796A>G c.4856A>G c.1851A>G (p.Pro617=) c.7785A>G (p.Pro2595=) c.896-30031A>G c.2616A>G (p.Pro872=) c.7659A>G (p.Pro2553=) n.1588A>G c.7788A>G (p.Pro2596=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73489744A>T | CA426765672 | ALMS1 | c.7404A>T (p.Pro2468=) c.796A>T c.4856A>T c.1851A>T (p.Pro617=) c.7785A>T (p.Pro2595=) c.896-30031A>T c.2616A>T (p.Pro872=) c.7659A>T (p.Pro2553=) n.1588A>T c.7788A>T (p.Pro2596=) | |
2 | g.73489745C>A | CA347264061 | ALMS1 | c.7405C>A (p.Gln2469Lys) c.797C>A c.4857C>A c.1852C>A (p.Gln618Lys) c.7786C>A (p.Gln2596Lys) c.896-30030C>A c.2617C>A (p.Gln873Lys) c.7660C>A (p.Gln2554Lys) n.1589C>A c.7789C>A (p.Gln2597Lys) | |
2 | g.73489745C= | CA1260981137 | ALMS1 | c.7405C= (p.Gln2469=) c.797C= c.4857C= c.1852C= (p.Gln618=) c.7786C= (p.Gln2596=) c.896-30030C= c.2617C= (p.Gln873=) c.7660C= (p.Gln2554=) n.1589C= c.7789C= (p.Gln2597=) | |
2 | g.73489745C>G | CA347264062 | ALMS1 | c.7405C>G (p.Gln2469Glu) c.797C>G c.4857C>G c.1852C>G (p.Gln618Glu) c.7786C>G (p.Gln2596Glu) c.896-30030C>G c.2617C>G (p.Gln873Glu) c.7660C>G (p.Gln2554Glu) n.1589C>G c.7789C>G (p.Gln2597Glu) | |
2 | g.73489745C>T | CA347264063 | ALMS1 | c.7405C>T (p.Gln2469Ter) c.797C>T c.4857C>T c.1852C>T (p.Gln618Ter) c.7786C>T (p.Gln2596Ter) c.896-30030C>T c.2617C>T (p.Gln873Ter) c.7660C>T (p.Gln2554Ter) n.1589C>T c.7789C>T (p.Gln2597Ter) | ClinVar dbSNP |
2 | g.73489746A>C | CA347264066 | ALMS1 | c.7406A>C (p.Gln2469Pro) c.798A>C c.4858A>C c.1853A>C (p.Gln618Pro) c.7787A>C (p.Gln2596Pro) c.896-30029A>C c.2618A>C (p.Gln873Pro) c.7661A>C (p.Gln2554Pro) n.1590A>C c.7790A>C (p.Gln2597Pro) | |
2 | g.73489746A>G | CA347264065 | ALMS1 | c.7406A>G (p.Gln2469Arg) c.798A>G c.4858A>G c.1853A>G (p.Gln618Arg) c.7787A>G (p.Gln2596Arg) c.896-30029A>G c.2618A>G (p.Gln873Arg) c.7661A>G (p.Gln2554Arg) n.1590A>G c.7790A>G (p.Gln2597Arg) | |
2 | g.73489746A>T | CA347264064 | ALMS1 | c.7406A>T (p.Gln2469Leu) c.798A>T c.4858A>T c.1853A>T (p.Gln618Leu) c.7787A>T (p.Gln2596Leu) c.896-30029A>T c.2618A>T (p.Gln873Leu) c.7661A>T (p.Gln2554Leu) n.1590A>T c.7790A>T (p.Gln2597Leu) | |
2 | g.73489747A= | CA1260981138 | ALMS1 | c.7407A= (p.Gln2469=) c.799A= c.4859A= c.1854A= (p.Gln618=) c.7788A= (p.Gln2596=) c.896-30028A= c.2619A= (p.Gln873=) c.7662A= (p.Gln2554=) n.1591A= c.7791A= (p.Gln2597=) | |
2 | g.73489747A>C | CA1714350 | ALMS1 | c.7407A>C (p.Gln2469His) c.799A>C c.4859A>C c.1854A>C (p.Gln618His) c.7788A>C (p.Gln2596His) c.896-30028A>C c.2619A>C (p.Gln873His) c.7662A>C (p.Gln2554His) n.1591A>C c.7791A>C (p.Gln2597His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489747A>G | CA426765678 | ALMS1 | c.7407A>G (p.Gln2469=) c.799A>G c.4859A>G c.1854A>G (p.Gln618=) c.7788A>G (p.Gln2596=) c.896-30028A>G c.2619A>G (p.Gln873=) c.7662A>G (p.Gln2554=) n.1591A>G c.7791A>G (p.Gln2597=) | ClinVar gnomAD v4 |
2 | g.73489747A>T | CA347264067 | ALMS1 | c.7407A>T (p.Gln2469His) c.799A>T c.4859A>T c.1854A>T (p.Gln618His) c.7788A>T (p.Gln2596His) c.896-30028A>T c.2619A>T (p.Gln873His) c.7662A>T (p.Gln2554His) n.1591A>T c.7791A>T (p.Gln2597His) | gnomAD v4 |
2 | g.73489748C>A | CA347264068 | ALMS1 | c.7408C>A (p.Leu2470Ile) c.800C>A c.4860C>A c.1855C>A (p.Leu619Ile) c.7789C>A (p.Leu2597Ile) c.896-30027C>A c.2620C>A (p.Leu874Ile) c.7663C>A (p.Leu2555Ile) n.1592C>A c.7792C>A (p.Leu2598Ile) | |
2 | g.73489748C>G | CA347264069 | ALMS1 | c.7408C>G (p.Leu2470Val) c.800C>G c.4860C>G c.1855C>G (p.Leu619Val) c.7789C>G (p.Leu2597Val) c.896-30027C>G c.2620C>G (p.Leu874Val) c.7663C>G (p.Leu2555Val) n.1592C>G c.7792C>G (p.Leu2598Val) | |
2 | g.73489748C>T | CA426765681 | ALMS1 | c.7408C>T (p.Leu2470=) c.800C>T c.4860C>T c.1855C>T (p.Leu619=) c.7789C>T (p.Leu2597=) c.896-30027C>T c.2620C>T (p.Leu874=) c.7663C>T (p.Leu2555=) n.1592C>T c.7792C>T (p.Leu2598=) | ClinVar |
2 | g.73489749T>A | CA347264070 | ALMS1 | c.7409T>A (p.Leu2470Gln) c.801T>A c.4861T>A c.1856T>A (p.Leu619Gln) c.7790T>A (p.Leu2597Gln) c.896-30026T>A c.2621T>A (p.Leu874Gln) c.7664T>A (p.Leu2555Gln) n.1593T>A c.7793T>A (p.Leu2598Gln) | |
2 | g.73489749T>C | CA347264072 | ALMS1 | c.7409T>C (p.Leu2470Pro) c.801T>C c.4861T>C c.1856T>C (p.Leu619Pro) c.7790T>C (p.Leu2597Pro) c.896-30026T>C c.2621T>C (p.Leu874Pro) c.7664T>C (p.Leu2555Pro) n.1593T>C c.7793T>C (p.Leu2598Pro) | |
2 | g.73489749T>G | CA347264071 | ALMS1 | c.7409T>G (p.Leu2470Arg) c.801T>G c.4861T>G c.1856T>G (p.Leu619Arg) c.7790T>G (p.Leu2597Arg) c.896-30026T>G c.2621T>G (p.Leu874Arg) c.7664T>G (p.Leu2555Arg) n.1593T>G c.7793T>G (p.Leu2598Arg) | dbSNP |
2 | g.73489749T= | CA1260981139 | ALMS1 | c.7409T= (p.Leu2470=) c.801T= c.4861T= c.1856T= (p.Leu619=) c.7790T= (p.Leu2597=) c.896-30026T= c.2621T= (p.Leu874=) c.7664T= (p.Leu2555=) n.1593T= c.7793T= (p.Leu2598=) | |
2 | g.73489750A= | CA1260981140 | ALMS1 | c.7410A= (p.Leu2470=) c.802A= c.4862A= c.1857A= (p.Leu619=) c.7791A= (p.Leu2597=) c.896-30025A= c.2622A= (p.Leu874=) c.7665A= (p.Leu2555=) n.1594A= c.7794A= (p.Leu2598=) | |
2 | g.73489750A>C | CA50377479 | ALMS1 | c.7410A>C (p.Leu2470=) c.802A>C c.4862A>C c.1857A>C (p.Leu619=) c.7791A>C (p.Leu2597=) c.896-30025A>C c.2622A>C (p.Leu874=) c.7665A>C (p.Leu2555=) n.1594A>C c.7794A>C (p.Leu2598=) | dbSNP |
2 | g.73489750A>G | CA1714351 | ALMS1 | c.7410A>G (p.Leu2470=) c.802A>G c.4862A>G c.1857A>G (p.Leu619=) c.7791A>G (p.Leu2597=) c.896-30025A>G c.2622A>G (p.Leu874=) c.7665A>G (p.Leu2555=) n.1594A>G c.7794A>G (p.Leu2598=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489750A>T | CA426765688 | ALMS1 | c.7410A>T (p.Leu2470=) c.802A>T c.4862A>T c.1857A>T (p.Leu619=) c.7791A>T (p.Leu2597=) c.896-30025A>T c.2622A>T (p.Leu874=) c.7665A>T (p.Leu2555=) n.1594A>T c.7794A>T (p.Leu2598=) | |
2 | g.73489751G>A | CA347264073 | ALMS1 | c.7411G>A (p.Asp2471Asn) c.803G>A c.4863G>A c.1858G>A (p.Asp620Asn) c.7792G>A (p.Asp2598Asn) c.896-30024G>A c.2623G>A (p.Asp875Asn) c.7666G>A (p.Asp2556Asn) n.1595G>A c.7795G>A (p.Asp2599Asn) | |
2 | g.73489751G>C | CA347264074 | ALMS1 | c.7411G>C (p.Asp2471His) c.803G>C c.4863G>C c.1858G>C (p.Asp620His) c.7792G>C (p.Asp2598His) c.896-30024G>C c.2623G>C (p.Asp875His) c.7666G>C (p.Asp2556His) n.1595G>C c.7795G>C (p.Asp2599His) | |
2 | g.73489751G= | CA1260981141 | ALMS1 | c.7411G= (p.Asp2471=) c.803G= c.4863G= c.1858G= (p.Asp620=) c.7792G= (p.Asp2598=) c.896-30024G= c.2623G= (p.Asp875=) c.7666G= (p.Asp2556=) n.1595G= c.7795G= (p.Asp2599=) | |
2 | g.73489751G>T | CA1714352 | ALMS1 | c.7411G>T (p.Asp2471Tyr) c.803G>T c.4863G>T c.1858G>T (p.Asp620Tyr) c.7792G>T (p.Asp2598Tyr) c.896-30024G>T c.2623G>T (p.Asp875Tyr) c.7666G>T (p.Asp2556Tyr) n.1595G>T c.7795G>T (p.Asp2599Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489752A= | CA1260981142 | ALMS1 | c.7412A= (p.Asp2471=) c.804A= c.4864A= c.1859A= (p.Asp620=) c.7793A= (p.Asp2598=) c.896-30023A= c.2624A= (p.Asp875=) c.7667A= (p.Asp2556=) n.1596A= c.7796A= (p.Asp2599=) | |
2 | g.73489752A>C | CA347264075 | ALMS1 | c.7412A>C (p.Asp2471Ala) c.804A>C c.4864A>C c.1859A>C (p.Asp620Ala) c.7793A>C (p.Asp2598Ala) c.896-30023A>C c.2624A>C (p.Asp875Ala) c.7667A>C (p.Asp2556Ala) n.1596A>C c.7796A>C (p.Asp2599Ala) | |
2 | g.73489752A>G | CA347264076 | ALMS1 | c.7412A>G (p.Asp2471Gly) c.804A>G c.4864A>G c.1859A>G (p.Asp620Gly) c.7793A>G (p.Asp2598Gly) c.896-30023A>G c.2624A>G (p.Asp875Gly) c.7667A>G (p.Asp2556Gly) n.1596A>G c.7796A>G (p.Asp2599Gly) | dbSNP gnomAD v4 |
2 | g.73489752A>T | CA347264077 | ALMS1 | c.7412A>T (p.Asp2471Val) c.804A>T c.4864A>T c.1859A>T (p.Asp620Val) c.7793A>T (p.Asp2598Val) c.896-30023A>T c.2624A>T (p.Asp875Val) c.7667A>T (p.Asp2556Val) n.1596A>T c.7796A>T (p.Asp2599Val) | |
2 | g.73489753T>A | CA347264078 | ALMS1 | c.7413T>A (p.Asp2471Glu) c.805T>A c.4865T>A c.1860T>A (p.Asp620Glu) c.7794T>A (p.Asp2598Glu) c.896-30022T>A c.2625T>A (p.Asp875Glu) c.7668T>A (p.Asp2556Glu) n.1597T>A c.7797T>A (p.Asp2599Glu) | |
2 | g.73489753T>C | CA426765699 | ALMS1 | c.7413T>C (p.Asp2471=) c.805T>C c.4865T>C c.1860T>C (p.Asp620=) c.7794T>C (p.Asp2598=) c.896-30022T>C c.2625T>C (p.Asp875=) c.7668T>C (p.Asp2556=) n.1597T>C c.7797T>C (p.Asp2599=) | gnomAD v4 |
2 | g.73489753T>G | CA347264079 | ALMS1 | c.7413T>G (p.Asp2471Glu) c.805T>G c.4865T>G c.1860T>G (p.Asp620Glu) c.7794T>G (p.Asp2598Glu) c.896-30022T>G c.2625T>G (p.Asp875Glu) c.7668T>G (p.Asp2556Glu) n.1597T>G c.7797T>G (p.Asp2599Glu) | |
2 | g.73489754A>C | CA426765705 | ALMS1 | c.7414A>C (p.Arg2472=) c.806A>C c.4866A>C c.1861A>C (p.Arg621=) c.7795A>C (p.Arg2599=) c.896-30021A>C c.2626A>C (p.Arg876=) c.7669A>C (p.Arg2557=) n.1598A>C c.7798A>C (p.Arg2600=) | |
2 | g.73489754A>G | CA347264080 | ALMS1 | c.7414A>G (p.Arg2472Gly) c.806A>G c.4866A>G c.1861A>G (p.Arg621Gly) c.7795A>G (p.Arg2599Gly) c.896-30021A>G c.2626A>G (p.Arg876Gly) c.7669A>G (p.Arg2557Gly) n.1598A>G c.7798A>G (p.Arg2600Gly) | gnomAD v4 |
2 | g.73489754A>T | CA347264081 | ALMS1 | c.7414A>T (p.Arg2472Ter) c.806A>T c.4866A>T c.1861A>T (p.Arg621Ter) c.7795A>T (p.Arg2599Ter) c.896-30021A>T c.2626A>T (p.Arg876Ter) c.7669A>T (p.Arg2557Ter) n.1598A>T c.7798A>T (p.Arg2600Ter) | |
2 | g.73489755G>A | CA347264082 | ALMS1 | c.7415G>A (p.Arg2472Lys) c.807G>A c.4867G>A c.1862G>A (p.Arg621Lys) c.7796G>A (p.Arg2599Lys) c.896-30020G>A c.2627G>A (p.Arg876Lys) c.7670G>A (p.Arg2557Lys) n.1599G>A c.7799G>A (p.Arg2600Lys) | |
2 | g.73489755G>C | CA347264083 | ALMS1 | c.7415G>C (p.Arg2472Thr) c.807G>C c.4867G>C c.1862G>C (p.Arg621Thr) c.7796G>C (p.Arg2599Thr) c.896-30020G>C c.2627G>C (p.Arg876Thr) c.7670G>C (p.Arg2557Thr) n.1599G>C c.7799G>C (p.Arg2600Thr) | gnomAD v4 |
2 | g.73489755G>T | CA347264084 | ALMS1 | c.7415G>T (p.Arg2472Ile) c.807G>T c.4867G>T c.1862G>T (p.Arg621Ile) c.7796G>T (p.Arg2599Ile) c.896-30020G>T c.2627G>T (p.Arg876Ile) c.7670G>T (p.Arg2557Ile) n.1599G>T c.7799G>T (p.Arg2600Ile) | |
2 | g.73489756A= | CA1260981143 | ALMS1 | c.7416A= (p.Arg2472=) c.808A= c.4868A= c.1863A= (p.Arg621=) c.7797A= (p.Arg2599=) c.896-30019A= c.2628A= (p.Arg876=) c.7671A= (p.Arg2557=) n.1600A= c.7800A= (p.Arg2600=) | |
2 | g.73489756A>C | CA347264085 | ALMS1 | c.7416A>C (p.Arg2472Ser) c.808A>C c.4868A>C c.1863A>C (p.Arg621Ser) c.7797A>C (p.Arg2599Ser) c.896-30019A>C c.2628A>C (p.Arg876Ser) c.7671A>C (p.Arg2557Ser) n.1600A>C c.7800A>C (p.Arg2600Ser) | |
2 | g.73489756A>G | CA426765716 | ALMS1 | c.7416A>G (p.Arg2472=) c.808A>G c.4868A>G c.1863A>G (p.Arg621=) c.7797A>G (p.Arg2599=) c.896-30019A>G c.2628A>G (p.Arg876=) c.7671A>G (p.Arg2557=) n.1600A>G c.7800A>G (p.Arg2600=) | ClinVar dbSNP gnomAD v4 |
2 | g.73489756A>T | CA347264086 | ALMS1 | c.7416A>T (p.Arg2472Ser) c.808A>T c.4868A>T c.1863A>T (p.Arg621Ser) c.7797A>T (p.Arg2599Ser) c.896-30019A>T c.2628A>T (p.Arg876Ser) c.7671A>T (p.Arg2557Ser) n.1600A>T c.7800A>T (p.Arg2600Ser) | |
2 | g.73489757C>A | CA347264087 | ALMS1 | c.7417C>A (p.His2473Asn) c.809C>A c.4869C>A c.1864C>A (p.His622Asn) c.7798C>A (p.His2600Asn) c.896-30018C>A c.2629C>A (p.His877Asn) c.7672C>A (p.His2558Asn) n.1601C>A c.7801C>A (p.His2601Asn) | |
2 | g.73489757C>G | CA347264088 | ALMS1 | c.7417C>G (p.His2473Asp) c.809C>G c.4869C>G c.1864C>G (p.His622Asp) c.7798C>G (p.His2600Asp) c.896-30018C>G c.2629C>G (p.His877Asp) c.7672C>G (p.His2558Asp) n.1601C>G c.7801C>G (p.His2601Asp) | |
2 | g.73489757C>T | CA347264089 | ALMS1 | c.7417C>T (p.His2473Tyr) c.809C>T c.4869C>T c.1864C>T (p.His622Tyr) c.7798C>T (p.His2600Tyr) c.896-30018C>T c.2629C>T (p.His877Tyr) c.7672C>T (p.His2558Tyr) n.1601C>T c.7801C>T (p.His2601Tyr) | |
2 | g.73489758A= | CA1260981144 | ALMS1 | c.7418A= (p.His2473=) c.810A= c.4870A= c.1865A= (p.His622=) c.7799A= (p.His2600=) c.896-30017A= c.2630A= (p.His877=) c.7673A= (p.His2558=) n.1602A= c.7802A= (p.His2601=) | |
2 | g.73489758A>C | CA347264090 | ALMS1 | c.7418A>C (p.His2473Pro) c.810A>C c.4870A>C c.1865A>C (p.His622Pro) c.7799A>C (p.His2600Pro) c.896-30017A>C c.2630A>C (p.His877Pro) c.7673A>C (p.His2558Pro) n.1602A>C c.7802A>C (p.His2601Pro) | |
2 | g.73489758A>G | CA347264091 | ALMS1 | c.7418A>G (p.His2473Arg) c.810A>G c.4870A>G c.1865A>G (p.His622Arg) c.7799A>G (p.His2600Arg) c.896-30017A>G c.2630A>G (p.His877Arg) c.7673A>G (p.His2558Arg) n.1602A>G c.7802A>G (p.His2601Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.73489758A>T | CA347264092 | ALMS1 | c.7418A>T (p.His2473Leu) c.810A>T c.4870A>T c.1865A>T (p.His622Leu) c.7799A>T (p.His2600Leu) c.896-30017A>T c.2630A>T (p.His877Leu) c.7673A>T (p.His2558Leu) n.1602A>T c.7802A>T (p.His2601Leu) | |
2 | g.73489759C>A | CA347264093 | ALMS1 | c.7419C>A (p.His2473Gln) c.811C>A c.4871C>A c.1866C>A (p.His622Gln) c.7800C>A (p.His2600Gln) c.896-30016C>A c.2631C>A (p.His877Gln) c.7674C>A (p.His2558Gln) n.1603C>A c.7803C>A (p.His2601Gln) | gnomAD v4 |
2 | g.73489759C>G | CA347264094 | ALMS1 | c.7419C>G (p.His2473Gln) c.811C>G c.4871C>G c.1866C>G (p.His622Gln) c.7800C>G (p.His2600Gln) c.896-30016C>G c.2631C>G (p.His877Gln) c.7674C>G (p.His2558Gln) n.1603C>G c.7803C>G (p.His2601Gln) | gnomAD v4 |
2 | g.73489759C>T | CA426765733 | ALMS1 | c.7419C>T (p.His2473=) c.811C>T c.4871C>T c.1866C>T (p.His622=) c.7800C>T (p.His2600=) c.896-30016C>T c.2631C>T (p.His877=) c.7674C>T (p.His2558=) n.1603C>T c.7803C>T (p.His2601=) | ClinVar |
2 | g.73489760C>A | CA347264095 | ALMS1 | c.7420C>A (p.Pro2474Thr) c.812C>A c.4872C>A c.1867C>A (p.Pro623Thr) c.7801C>A (p.Pro2601Thr) c.896-30015C>A c.2632C>A (p.Pro878Thr) c.7675C>A (p.Pro2559Thr) n.1604C>A c.7804C>A (p.Pro2602Thr) | |
2 | g.73489760C= | CA1260981145 | ALMS1 | c.7420C= (p.Pro2474=) c.812C= c.4872C= c.1867C= (p.Pro623=) c.7801C= (p.Pro2601=) c.896-30015C= c.2632C= (p.Pro878=) c.7675C= (p.Pro2559=) n.1604C= c.7804C= (p.Pro2602=) | |
2 | g.73489760C>G | CA347264096 | ALMS1 | c.7420C>G (p.Pro2474Ala) c.812C>G c.4872C>G c.1867C>G (p.Pro623Ala) c.7801C>G (p.Pro2601Ala) c.896-30015C>G c.2632C>G (p.Pro878Ala) c.7675C>G (p.Pro2559Ala) n.1604C>G c.7804C>G (p.Pro2602Ala) | ClinVar |
2 | g.73489760C>T | CA347264097 | ALMS1 | c.7420C>T (p.Pro2474Ser) c.812C>T c.4872C>T c.1867C>T (p.Pro623Ser) c.7801C>T (p.Pro2601Ser) c.896-30015C>T c.2632C>T (p.Pro878Ser) c.7675C>T (p.Pro2559Ser) n.1604C>T c.7804C>T (p.Pro2602Ser) | ClinVar dbSNP gnomAD v4 |
2 | g.73489761C>A | CA347264100 | ALMS1 | c.7421C>A (p.Pro2474His) c.813C>A c.4873C>A c.1868C>A (p.Pro623His) c.7802C>A (p.Pro2601His) c.896-30014C>A c.2633C>A (p.Pro878His) c.7676C>A (p.Pro2559His) n.1605C>A c.7805C>A (p.Pro2602His) | ClinVar dbSNP gnomAD v4 |
2 | g.73489761C>G | CA347264099 | ALMS1 | c.7421C>G (p.Pro2474Arg) c.813C>G c.4873C>G c.1868C>G (p.Pro623Arg) c.7802C>G (p.Pro2601Arg) c.896-30014C>G c.2633C>G (p.Pro878Arg) c.7676C>G (p.Pro2559Arg) n.1605C>G c.7805C>G (p.Pro2602Arg) | gnomAD v4 |
2 | g.73489761C>T | CA347264098 | ALMS1 | c.7421C>T (p.Pro2474Leu) c.813C>T c.4873C>T c.1868C>T (p.Pro623Leu) c.7802C>T (p.Pro2601Leu) c.896-30014C>T c.2633C>T (p.Pro878Leu) c.7676C>T (p.Pro2559Leu) n.1605C>T c.7805C>T (p.Pro2602Leu) | |
2 | g.73489762T>A | CA426765749 | ALMS1 | c.7422T>A (p.Pro2474=) c.814T>A c.4874T>A c.1869T>A (p.Pro623=) c.7803T>A (p.Pro2601=) c.896-30013T>A c.2634T>A (p.Pro878=) c.7677T>A (p.Pro2559=) n.1606T>A c.7806T>A (p.Pro2602=) | |
2 | g.73489762T>C | CA426765745 | ALMS1 | c.7422T>C (p.Pro2474=) c.814T>C c.4874T>C c.1869T>C (p.Pro623=) c.7803T>C (p.Pro2601=) c.896-30013T>C c.2634T>C (p.Pro878=) c.7677T>C (p.Pro2559=) n.1606T>C c.7806T>C (p.Pro2602=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.73489762T>G | CA426765746 | ALMS1 | c.7422T>G (p.Pro2474=) c.814T>G c.4874T>G c.1869T>G (p.Pro623=) c.7803T>G (p.Pro2601=) c.896-30013T>G c.2634T>G (p.Pro878=) c.7677T>G (p.Pro2559=) n.1606T>G c.7806T>G (p.Pro2602=) | |
2 | g.73489762T= | CA1260981146 | ALMS1 | c.7422T= (p.Pro2474=) c.814T= c.4874T= c.1869T= (p.Pro623=) c.7803T= (p.Pro2601=) c.896-30013T= c.2634T= (p.Pro878=) c.7677T= (p.Pro2559=) n.1606T= c.7806T= (p.Pro2602=) | |
2 | g.73489763T>A | CA347264101 | ALMS1 | c.7423T>A (p.Cys2475Ser) c.815T>A c.4875T>A c.1870T>A (p.Cys624Ser) c.7804T>A (p.Cys2602Ser) c.896-30012T>A c.2635T>A (p.Cys879Ser) c.7678T>A (p.Cys2560Ser) n.1607T>A c.7807T>A (p.Cys2603Ser) | |
2 | g.73489763T>C | CA347264102 | ALMS1 | c.7423T>C (p.Cys2475Arg) c.815T>C c.4875T>C c.1870T>C (p.Cys624Arg) c.7804T>C (p.Cys2602Arg) c.896-30012T>C c.2635T>C (p.Cys879Arg) c.7678T>C (p.Cys2560Arg) n.1607T>C c.7807T>C (p.Cys2603Arg) | |
2 | g.73489763T>G | CA347264103 | ALMS1 | c.7423T>G (p.Cys2475Gly) c.815T>G c.4875T>G c.1870T>G (p.Cys624Gly) c.7804T>G (p.Cys2602Gly) c.896-30012T>G c.2635T>G (p.Cys879Gly) c.7678T>G (p.Cys2560Gly) n.1607T>G c.7807T>G (p.Cys2603Gly) | |
2 | g.73489764G>A | CA347264104 | ALMS1 | c.7424G>A (p.Cys2475Tyr) c.816G>A c.4876G>A c.1871G>A (p.Cys624Tyr) c.7805G>A (p.Cys2602Tyr) c.896-30011G>A c.2636G>A (p.Cys879Tyr) c.7679G>A (p.Cys2560Tyr) n.1608G>A c.7808G>A (p.Cys2603Tyr) | |
2 | g.73489764G>C | CA347264105 | ALMS1 | c.7424G>C (p.Cys2475Ser) c.816G>C c.4876G>C c.1871G>C (p.Cys624Ser) c.7805G>C (p.Cys2602Ser) c.896-30011G>C c.2636G>C (p.Cys879Ser) c.7679G>C (p.Cys2560Ser) n.1608G>C c.7808G>C (p.Cys2603Ser) | |
2 | g.73489764G>T | CA347264106 | ALMS1 | c.7424G>T (p.Cys2475Phe) c.816G>T c.4876G>T c.1871G>T (p.Cys624Phe) c.7805G>T (p.Cys2602Phe) c.896-30011G>T c.2636G>T (p.Cys879Phe) c.7679G>T (p.Cys2560Phe) n.1608G>T c.7808G>T (p.Cys2603Phe) | |
2 | g.73489764dup | CA2659619822 | ALMS1 | c.7424dup (p.Cys2475TrpfsTer?) c.816dup c.4876dup c.1871dup (p.Cys624TrpfsTer?) c.7805dup (p.Cys2602TrpfsTer?) c.896-30011dup c.2636dup (p.Cys879TrpfsTer?) c.7679dup (p.Cys2560TrpfsTer?) n.1608dup c.7808dup (p.Cys2603TrpfsTer?) | gnomAD v4 |
2 | g.73489765T>A | CA347264107 | ALMS1 | c.7425T>A (p.Cys2475Ter) c.817T>A c.4877T>A c.1872T>A (p.Cys624Ter) c.7806T>A (p.Cys2602Ter) c.896-30010T>A c.2637T>A (p.Cys879Ter) c.7680T>A (p.Cys2560Ter) n.1609T>A c.7809T>A (p.Cys2603Ter) | ClinVar |
2 | g.73489765T>C | CA426765769 | ALMS1 | c.7425T>C (p.Cys2475=) c.817T>C c.4877T>C c.1872T>C (p.Cys624=) c.7806T>C (p.Cys2602=) c.896-30010T>C c.2637T>C (p.Cys879=) c.7680T>C (p.Cys2560=) n.1609T>C c.7809T>C (p.Cys2603=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489765T>G | CA347264108 | ALMS1 | c.7425T>G (p.Cys2475Trp) c.817T>G c.4877T>G c.1872T>G (p.Cys624Trp) c.7806T>G (p.Cys2602Trp) c.896-30010T>G c.2637T>G (p.Cys879Trp) c.7680T>G (p.Cys2560Trp) n.1609T>G c.7809T>G (p.Cys2603Trp) | |
2 | g.73489765T= | CA1260981147 | ALMS1 | c.7425T= (p.Cys2475=) c.817T= c.4877T= c.1872T= (p.Cys624=) c.7806T= (p.Cys2602=) c.896-30010T= c.2637T= (p.Cys879=) c.7680T= (p.Cys2560=) n.1609T= c.7809T= (p.Cys2603=) | |
2 | g.73489766G>A | CA347264109 | ALMS1 | c.7426G>A (p.Ala2476Thr) c.818G>A c.4878G>A c.1873G>A (p.Ala625Thr) c.7807G>A (p.Ala2603Thr) c.896-30009G>A c.2638G>A (p.Ala880Thr) c.7681G>A (p.Ala2561Thr) n.1610G>A c.7810G>A (p.Ala2604Thr) | |
2 | g.73489766G>C | CA50377496 | ALMS1 | c.7426G>C (p.Ala2476Pro) c.818G>C c.4878G>C c.1873G>C (p.Ala625Pro) c.7807G>C (p.Ala2603Pro) c.896-30009G>C c.2638G>C (p.Ala880Pro) c.7681G>C (p.Ala2561Pro) n.1610G>C c.7810G>C (p.Ala2604Pro) | dbSNP |
2 | g.73489766G= | CA1260981148 | ALMS1 | c.7426G= (p.Ala2476=) c.818G= c.4878G= c.1873G= (p.Ala625=) c.7807G= (p.Ala2603=) c.896-30009G= c.2638G= (p.Ala880=) c.7681G= (p.Ala2561=) n.1610G= c.7810G= (p.Ala2604=) | |
2 | g.73489766G>T | CA347264110 | ALMS1 | c.7426G>T (p.Ala2476Ser) c.818G>T c.4878G>T c.1873G>T (p.Ala625Ser) c.7807G>T (p.Ala2603Ser) c.896-30009G>T c.2638G>T (p.Ala880Ser) c.7681G>T (p.Ala2561Ser) n.1610G>T c.7810G>T (p.Ala2604Ser) | |
2 | g.73489767C>A | CA347264113 | ALMS1 | c.7427C>A (p.Ala2476Asp) c.819C>A c.4879C>A c.1874C>A (p.Ala625Asp) c.7808C>A (p.Ala2603Asp) c.896-30008C>A c.2639C>A (p.Ala880Asp) c.7682C>A (p.Ala2561Asp) n.1611C>A c.7811C>A (p.Ala2604Asp) | |
2 | g.73489767C>G | CA347264112 | ALMS1 | c.7427C>G (p.Ala2476Gly) c.819C>G c.4879C>G c.1874C>G (p.Ala625Gly) c.7808C>G (p.Ala2603Gly) c.896-30008C>G c.2639C>G (p.Ala880Gly) c.7682C>G (p.Ala2561Gly) n.1611C>G c.7811C>G (p.Ala2604Gly) | |
2 | g.73489767C>T | CA347264111 | ALMS1 | c.7427C>T (p.Ala2476Val) c.819C>T c.4879C>T c.1874C>T (p.Ala625Val) c.7808C>T (p.Ala2603Val) c.896-30008C>T c.2639C>T (p.Ala880Val) c.7682C>T (p.Ala2561Val) n.1611C>T c.7811C>T (p.Ala2604Val) | |
2 | g.73489768T>A | CA426765779 | ALMS1 | c.7428T>A (p.Ala2476=) c.820T>A c.4880T>A c.1875T>A (p.Ala625=) c.7809T>A (p.Ala2603=) c.896-30007T>A c.2640T>A (p.Ala880=) c.7683T>A (p.Ala2561=) n.1612T>A c.7812T>A (p.Ala2604=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73489768T>C | CA426765781 | ALMS1 | c.7428T>C (p.Ala2476=) c.820T>C c.4880T>C c.1875T>C (p.Ala625=) c.7809T>C (p.Ala2603=) c.896-30007T>C c.2640T>C (p.Ala880=) c.7683T>C (p.Ala2561=) n.1612T>C c.7812T>C (p.Ala2604=) | |
2 | g.73489768T>G | CA426765783 | ALMS1 | c.7428T>G (p.Ala2476=) c.820T>G c.4880T>G c.1875T>G (p.Ala625=) c.7809T>G (p.Ala2603=) c.896-30007T>G c.2640T>G (p.Ala880=) c.7683T>G (p.Ala2561=) n.1612T>G c.7812T>G (p.Ala2604=) | |
2 | g.73489768T= | CA1260981149 | ALMS1 | c.7428T= (p.Ala2476=) c.820T= c.4880T= c.1875T= (p.Ala625=) c.7809T= (p.Ala2603=) c.896-30007T= c.2640T= (p.Ala880=) c.7683T= (p.Ala2561=) n.1612T= c.7812T= (p.Ala2604=) | |
2 | g.73489770del | CA2699534513 | ALMS1 | c.7430del (p.Phe2477SerfsTer9) c.822del c.4882del c.1877del (p.Phe626SerfsTer9) c.7811del (p.Phe2604SerfsTer9) c.896-30005del c.2642del (p.Phe881SerfsTer9) c.7685del (p.Phe2562SerfsTer9) n.1614del c.7814del (p.Phe2605SerfsTer9) | dbSNP |
2 | g.73489769T>A | CA347264114 | ALMS1 | c.7429T>A (p.Phe2477Ile) c.821T>A c.4881T>A c.1876T>A (p.Phe626Ile) c.7810T>A (p.Phe2604Ile) c.896-30006T>A c.2641T>A (p.Phe881Ile) c.7684T>A (p.Phe2562Ile) n.1613T>A c.7813T>A (p.Phe2605Ile) | |
2 | g.73489769T>C | CA347264115 | ALMS1 | c.7429T>C (p.Phe2477Leu) c.821T>C c.4881T>C c.1876T>C (p.Phe626Leu) c.7810T>C (p.Phe2604Leu) c.896-30006T>C c.2641T>C (p.Phe881Leu) c.7684T>C (p.Phe2562Leu) n.1613T>C c.7813T>C (p.Phe2605Leu) | |
2 | g.73489769T>G | CA347264116 | ALMS1 | c.7429T>G (p.Phe2477Val) c.821T>G c.4881T>G c.1876T>G (p.Phe626Val) c.7810T>G (p.Phe2604Val) c.896-30006T>G c.2641T>G (p.Phe881Val) c.7684T>G (p.Phe2562Val) n.1613T>G c.7813T>G (p.Phe2605Val) | ClinVar dbSNP gnomAD v2 |
2 | g.73489769T= | CA1260981150 | ALMS1 | c.7429T= (p.Phe2477=) c.821T= c.4881T= c.1876T= (p.Phe626=) c.7810T= (p.Phe2604=) c.896-30006T= c.2641T= (p.Phe881=) c.7684T= (p.Phe2562=) n.1613T= c.7813T= (p.Phe2605=) | |
2 | g.73489770T>A | CA347264117 | ALMS1 | c.7430T>A (p.Phe2477Tyr) c.822T>A c.4882T>A c.1877T>A (p.Phe626Tyr) c.7811T>A (p.Phe2604Tyr) c.896-30005T>A c.2642T>A (p.Phe881Tyr) c.7685T>A (p.Phe2562Tyr) n.1614T>A c.7814T>A (p.Phe2605Tyr) | |
2 | g.73489770T>C | CA347264118 | ALMS1 | c.7430T>C (p.Phe2477Ser) c.822T>C c.4882T>C c.1877T>C (p.Phe626Ser) c.7811T>C (p.Phe2604Ser) c.896-30005T>C c.2642T>C (p.Phe881Ser) c.7685T>C (p.Phe2562Ser) n.1614T>C c.7814T>C (p.Phe2605Ser) | ClinVar dbSNP |
2 | g.73489770T>G | CA347264119 | ALMS1 | c.7430T>G (p.Phe2477Cys) c.822T>G c.4882T>G c.1877T>G (p.Phe626Cys) c.7811T>G (p.Phe2604Cys) c.896-30005T>G c.2642T>G (p.Phe881Cys) c.7685T>G (p.Phe2562Cys) n.1614T>G c.7814T>G (p.Phe2605Cys) | |
2 | g.73489770T= | CA1260981151 | ALMS1 | c.7430T= (p.Phe2477=) c.822T= c.4882T= c.1877T= (p.Phe626=) c.7811T= (p.Phe2604=) c.896-30005T= c.2642T= (p.Phe881=) c.7685T= (p.Phe2562=) n.1614T= c.7814T= (p.Phe2605=) | |
2 | g.73489771C>A | CA347264120 | ALMS1 | c.7431C>A (p.Phe2477Leu) c.823C>A c.4883C>A c.1878C>A (p.Phe626Leu) c.7812C>A (p.Phe2604Leu) c.896-30004C>A c.2643C>A (p.Phe881Leu) c.7686C>A (p.Phe2562Leu) n.1615C>A c.7815C>A (p.Phe2605Leu) | |
2 | g.73489771C= | CA1260981152 | ALMS1 | c.7431C= (p.Phe2477=) c.823C= c.4883C= c.1878C= (p.Phe626=) c.7812C= (p.Phe2604=) c.896-30004C= c.2643C= (p.Phe881=) c.7686C= (p.Phe2562=) n.1615C= c.7815C= (p.Phe2605=) | |
2 | g.73489771C>G | CA1714353 | ALMS1 | c.7431C>G (p.Phe2477Leu) c.823C>G c.4883C>G c.1878C>G (p.Phe626Leu) c.7812C>G (p.Phe2604Leu) c.896-30004C>G c.2643C>G (p.Phe881Leu) c.7686C>G (p.Phe2562Leu) n.1615C>G c.7815C>G (p.Phe2605Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489771C>T | CA426765803 | ALMS1 | c.7431C>T (p.Phe2477=) c.823C>T c.4883C>T c.1878C>T (p.Phe626=) c.7812C>T (p.Phe2604=) c.896-30004C>T c.2643C>T (p.Phe881=) c.7686C>T (p.Phe2562=) n.1615C>T c.7815C>T (p.Phe2605=) | gnomAD v4 |
2 | g.73489772A>C | CA426765805 | ALMS1 | c.7432A>C (p.Arg2478=) c.824A>C c.4884A>C c.1879A>C (p.Arg627=) c.7813A>C (p.Arg2605=) c.896-30003A>C c.2644A>C (p.Arg882=) c.7687A>C (p.Arg2563=) n.1616A>C c.7816A>C (p.Arg2606=) | |
2 | g.73489772A>G | CA347264121 | ALMS1 | c.7432A>G (p.Arg2478Gly) c.824A>G c.4884A>G c.1879A>G (p.Arg627Gly) c.7813A>G (p.Arg2605Gly) c.896-30003A>G c.2644A>G (p.Arg882Gly) c.7687A>G (p.Arg2563Gly) n.1616A>G c.7816A>G (p.Arg2606Gly) | |
2 | g.73489772A>T | CA347264122 | ALMS1 | c.7432A>T (p.Arg2478Ter) c.824A>T c.4884A>T c.1879A>T (p.Arg627Ter) c.7813A>T (p.Arg2605Ter) c.896-30003A>T c.2644A>T (p.Arg882Ter) c.7687A>T (p.Arg2563Ter) n.1616A>T c.7816A>T (p.Arg2606Ter) | |
2 | g.73489773G>A | CA347264123 | ALMS1 | c.7433G>A (p.Arg2478Lys) c.825G>A c.4885G>A c.1880G>A (p.Arg627Lys) c.7814G>A (p.Arg2605Lys) c.896-30002G>A c.2645G>A (p.Arg882Lys) c.7688G>A (p.Arg2563Lys) n.1617G>A c.7817G>A (p.Arg2606Lys) | |
2 | g.73489773G>C | CA347264124 | ALMS1 | c.7433G>C (p.Arg2478Thr) c.825G>C c.4885G>C c.1880G>C (p.Arg627Thr) c.7814G>C (p.Arg2605Thr) c.896-30002G>C c.2645G>C (p.Arg882Thr) c.7688G>C (p.Arg2563Thr) n.1617G>C c.7817G>C (p.Arg2606Thr) | |
2 | g.73489773G>T | CA347264125 | ALMS1 | c.7433G>T (p.Arg2478Ile) c.825G>T c.4885G>T c.1880G>T (p.Arg627Ile) c.7814G>T (p.Arg2605Ile) c.896-30002G>T c.2645G>T (p.Arg882Ile) c.7688G>T (p.Arg2563Ile) n.1617G>T c.7817G>T (p.Arg2606Ile) | |
2 | g.73489774A>C | CA347264126 | ALMS1 | c.7434A>C (p.Arg2478Ser) c.826A>C c.4886A>C c.1881A>C (p.Arg627Ser) c.7815A>C (p.Arg2605Ser) c.896-30001A>C c.2646A>C (p.Arg882Ser) c.7689A>C (p.Arg2563Ser) n.1618A>C c.7818A>C (p.Arg2606Ser) | |
2 | g.73489774A>G | CA426765814 | ALMS1 | c.7434A>G (p.Arg2478=) c.826A>G c.4886A>G c.1881A>G (p.Arg627=) c.7815A>G (p.Arg2605=) c.896-30001A>G c.2646A>G (p.Arg882=) c.7689A>G (p.Arg2563=) n.1618A>G c.7818A>G (p.Arg2606=) | |
2 | g.73489774A>T | CA347264127 | ALMS1 | c.7434A>T (p.Arg2478Ser) c.826A>T c.4886A>T c.1881A>T (p.Arg627Ser) c.7815A>T (p.Arg2605Ser) c.896-30001A>T c.2646A>T (p.Arg882Ser) c.7689A>T (p.Arg2563Ser) n.1618A>T c.7818A>T (p.Arg2606Ser) | |
2 | g.73489775T>A | CA347264128 | ALMS1 | c.7435T>A (p.Ser2479Thr) c.827T>A c.4887T>A c.1882T>A (p.Ser628Thr) c.7816T>A (p.Ser2606Thr) c.896-30000T>A c.2647T>A (p.Ser883Thr) c.7690T>A (p.Ser2564Thr) n.1619T>A c.7819T>A (p.Ser2607Thr) | |
2 | g.73489775T>C | CA1714354 | ALMS1 | c.7435T>C (p.Ser2479Pro) c.827T>C c.4887T>C c.1882T>C (p.Ser628Pro) c.7816T>C (p.Ser2606Pro) c.896-30000T>C c.2647T>C (p.Ser883Pro) c.7690T>C (p.Ser2564Pro) n.1619T>C c.7819T>C (p.Ser2607Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489775T>G | CA347264129 | ALMS1 | c.7435T>G (p.Ser2479Ala) c.827T>G c.4887T>G c.1882T>G (p.Ser628Ala) c.7816T>G (p.Ser2606Ala) c.896-30000T>G c.2647T>G (p.Ser883Ala) c.7690T>G (p.Ser2564Ala) n.1619T>G c.7819T>G (p.Ser2607Ala) | |
2 | g.73489775T= | CA1260981153 | ALMS1 | c.7435T= (p.Ser2479=) c.827T= c.4887T= c.1882T= (p.Ser628=) c.7816T= (p.Ser2606=) c.896-30000T= c.2647T= (p.Ser883=) c.7690T= (p.Ser2564=) n.1619T= c.7819T= (p.Ser2607=) | |
2 | g.73489776C>A | CA347264130 | ALMS1 | c.7436C>A (p.Ser2479Tyr) c.828C>A c.4888C>A c.1883C>A (p.Ser628Tyr) c.7817C>A (p.Ser2606Tyr) c.896-29999C>A c.2648C>A (p.Ser883Tyr) c.7691C>A (p.Ser2564Tyr) n.1620C>A c.7820C>A (p.Ser2607Tyr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73489776C= | CA1260981154 | ALMS1 | c.7436C= (p.Ser2479=) c.828C= c.4888C= c.1883C= (p.Ser628=) c.7817C= (p.Ser2606=) c.896-29999C= c.2648C= (p.Ser883=) c.7691C= (p.Ser2564=) n.1620C= c.7820C= (p.Ser2607=) | |
2 | g.73489776C>G | CA347264131 | ALMS1 | c.7436C>G (p.Ser2479Cys) c.828C>G c.4888C>G c.1883C>G (p.Ser628Cys) c.7817C>G (p.Ser2606Cys) c.896-29999C>G c.2648C>G (p.Ser883Cys) c.7691C>G (p.Ser2564Cys) n.1620C>G c.7820C>G (p.Ser2607Cys) | ClinVar |
2 | g.73489776C>T | CA50377518 | ALMS1 | c.7436C>T (p.Ser2479Phe) c.828C>T c.4888C>T c.1883C>T (p.Ser628Phe) c.7817C>T (p.Ser2606Phe) c.896-29999C>T c.2648C>T (p.Ser883Phe) c.7691C>T (p.Ser2564Phe) n.1620C>T c.7820C>T (p.Ser2607Phe) | dbSNP |
2 | g.73489777T>A | CA426765826 | ALMS1 | c.7437T>A (p.Ser2479=) c.829T>A c.4889T>A c.1884T>A (p.Ser628=) c.7818T>A (p.Ser2606=) c.896-29998T>A c.2649T>A (p.Ser883=) c.7692T>A (p.Ser2564=) n.1621T>A c.7821T>A (p.Ser2607=) | |
2 | g.73489777T>C | CA426765828 | ALMS1 | c.7437T>C (p.Ser2479=) c.829T>C c.4889T>C c.1884T>C (p.Ser628=) c.7818T>C (p.Ser2606=) c.896-29998T>C c.2649T>C (p.Ser883=) c.7692T>C (p.Ser2564=) n.1621T>C c.7821T>C (p.Ser2607=) | |
2 | g.73489777T>G | CA426765831 | ALMS1 | c.7437T>G (p.Ser2479=) c.829T>G c.4889T>G c.1884T>G (p.Ser628=) c.7818T>G (p.Ser2606=) c.896-29998T>G c.2649T>G (p.Ser883=) c.7692T>G (p.Ser2564=) n.1621T>G c.7821T>G (p.Ser2607=) | |
2 | g.73489778G>A | CA347264132 | ALMS1 | c.7438G>A (p.Ala2480Thr) c.830G>A c.4890G>A c.1885G>A (p.Ala629Thr) c.7819G>A (p.Ala2607Thr) c.896-29997G>A c.2650G>A (p.Ala884Thr) c.7693G>A (p.Ala2565Thr) n.1622G>A c.7822G>A (p.Ala2608Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489778G>C | CA347264133 | ALMS1 | c.7438G>C (p.Ala2480Pro) c.830G>C c.4890G>C c.1885G>C (p.Ala629Pro) c.7819G>C (p.Ala2607Pro) c.896-29997G>C c.2650G>C (p.Ala884Pro) c.7693G>C (p.Ala2565Pro) n.1622G>C c.7822G>C (p.Ala2608Pro) | gnomAD v4 |
2 | g.73489778G= | CA1260981155 | ALMS1 | c.7438G= (p.Ala2480=) c.830G= c.4890G= c.1885G= (p.Ala629=) c.7819G= (p.Ala2607=) c.896-29997G= c.2650G= (p.Ala884=) c.7693G= (p.Ala2565=) n.1622G= c.7822G= (p.Ala2608=) | |
2 | g.73489778G>T | CA347264134 | ALMS1 | c.7438G>T (p.Ala2480Ser) c.830G>T c.4890G>T c.1885G>T (p.Ala629Ser) c.7819G>T (p.Ala2607Ser) c.896-29997G>T c.2650G>T (p.Ala884Ser) c.7693G>T (p.Ala2565Ser) n.1622G>T c.7822G>T (p.Ala2608Ser) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73489779C>A | CA347264135 | ALMS1 | c.7439C>A (p.Ala2480Asp) c.831C>A c.4891C>A c.1886C>A (p.Ala629Asp) c.7820C>A (p.Ala2607Asp) c.896-29996C>A c.2651C>A (p.Ala884Asp) c.7694C>A (p.Ala2565Asp) n.1623C>A c.7823C>A (p.Ala2608Asp) | |
2 | g.73489779C= | CA1260981156 | ALMS1 | c.7439C= (p.Ala2480=) c.831C= c.4891C= c.1886C= (p.Ala629=) c.7820C= (p.Ala2607=) c.896-29996C= c.2651C= (p.Ala884=) c.7694C= (p.Ala2565=) n.1623C= c.7823C= (p.Ala2608=) | |
2 | g.73489779C>G | CA1714355 | ALMS1 | c.7439C>G (p.Ala2480Gly) c.831C>G c.4891C>G c.1886C>G (p.Ala629Gly) c.7820C>G (p.Ala2607Gly) c.896-29996C>G c.2651C>G (p.Ala884Gly) c.7694C>G (p.Ala2565Gly) n.1623C>G c.7823C>G (p.Ala2608Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489779C>T | CA347264137 | ALMS1 | c.7439C>T (p.Ala2480Val) c.831C>T c.4891C>T c.1886C>T (p.Ala629Val) c.7820C>T (p.Ala2607Val) c.896-29996C>T c.2651C>T (p.Ala884Val) c.7694C>T (p.Ala2565Val) n.1623C>T c.7823C>T (p.Ala2608Val) | gnomAD v4 |
2 | g.73489780T>A | CA426765839 | ALMS1 | c.7440T>A (p.Ala2480=) c.832T>A c.4892T>A c.1887T>A (p.Ala629=) c.7821T>A (p.Ala2607=) c.896-29995T>A c.2652T>A (p.Ala884=) c.7695T>A (p.Ala2565=) n.1624T>A c.7824T>A (p.Ala2608=) | |
2 | g.73489780T>C | CA50377528 | ALMS1 | c.7440T>C (p.Ala2480=) c.832T>C c.4892T>C c.1887T>C (p.Ala629=) c.7821T>C (p.Ala2607=) c.896-29995T>C c.2652T>C (p.Ala884=) c.7695T>C (p.Ala2565=) n.1624T>C c.7824T>C (p.Ala2608=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489780T>G | CA426765843 | ALMS1 | c.7440T>G (p.Ala2480=) c.832T>G c.4892T>G c.1887T>G (p.Ala629=) c.7821T>G (p.Ala2607=) c.896-29995T>G c.2652T>G (p.Ala884=) c.7695T>G (p.Ala2565=) n.1624T>G c.7824T>G (p.Ala2608=) | ClinVar |
2 | g.73489780T= | CA1260981157 | ALMS1 | c.7440T= (p.Ala2480=) c.832T= c.4892T= c.1887T= (p.Ala629=) c.7821T= (p.Ala2607=) c.896-29995T= c.2652T= (p.Ala884=) c.7695T= (p.Ala2565=) n.1624T= c.7824T= (p.Ala2608=) | |
2 | g.73489781G>A | CA347264139 | ALMS1 | c.7441G>A (p.Gly2481Arg) c.833G>A c.4893G>A c.1888G>A (p.Gly630Arg) c.7822G>A (p.Gly2608Arg) c.896-29994G>A c.2653G>A (p.Gly885Arg) c.7696G>A (p.Gly2566Arg) n.1625G>A c.7825G>A (p.Gly2609Arg) | |
2 | g.73489781G>C | CA347264140 | ALMS1 | c.7441G>C (p.Gly2481Arg) c.833G>C c.4893G>C c.1888G>C (p.Gly630Arg) c.7822G>C (p.Gly2608Arg) c.896-29994G>C c.2653G>C (p.Gly885Arg) c.7696G>C (p.Gly2566Arg) n.1625G>C c.7825G>C (p.Gly2609Arg) | |
2 | g.73489781G>T | CA347264142 | ALMS1 | c.7441G>T (p.Gly2481Ter) c.833G>T c.4893G>T c.1888G>T (p.Gly630Ter) c.7822G>T (p.Gly2608Ter) c.896-29994G>T c.2653G>T (p.Gly885Ter) c.7696G>T (p.Gly2566Ter) n.1625G>T c.7825G>T (p.Gly2609Ter) | |
2 | g.73489782G>A | CA347264144 | ALMS1 | c.7442G>A (p.Gly2481Glu) c.834G>A c.4894G>A c.1889G>A (p.Gly630Glu) c.7823G>A (p.Gly2608Glu) c.896-29993G>A c.2654G>A (p.Gly885Glu) c.7697G>A (p.Gly2566Glu) n.1626G>A c.7826G>A (p.Gly2609Glu) | |
2 | g.73489782G>C | CA347264146 | ALMS1 | c.7442G>C (p.Gly2481Ala) c.834G>C c.4894G>C c.1889G>C (p.Gly630Ala) c.7823G>C (p.Gly2608Ala) c.896-29993G>C c.2654G>C (p.Gly885Ala) c.7697G>C (p.Gly2566Ala) n.1626G>C c.7826G>C (p.Gly2609Ala) | |
2 | g.73489782G>T | CA347264145 | ALMS1 | c.7442G>T (p.Gly2481Val) c.834G>T c.4894G>T c.1889G>T (p.Gly630Val) c.7823G>T (p.Gly2608Val) c.896-29993G>T c.2654G>T (p.Gly885Val) c.7697G>T (p.Gly2566Val) n.1626G>T c.7826G>T (p.Gly2609Val) | |
2 | g.73489783A>C | CA426765852 | ALMS1 | c.7443A>C (p.Gly2481=) c.835A>C c.4895A>C c.1890A>C (p.Gly630=) c.7824A>C (p.Gly2608=) c.896-29992A>C c.2655A>C (p.Gly885=) c.7698A>C (p.Gly2566=) n.1627A>C c.7827A>C (p.Gly2609=) | |
2 | g.73489783A>G | CA426765861 | ALMS1 | c.7443A>G (p.Gly2481=) c.835A>G c.4895A>G c.1890A>G (p.Gly630=) c.7824A>G (p.Gly2608=) c.896-29992A>G c.2655A>G (p.Gly885=) c.7698A>G (p.Gly2566=) n.1627A>G c.7827A>G (p.Gly2609=) | |
2 | g.73489783A>T | CA426765858 | ALMS1 | c.7443A>T (p.Gly2481=) c.835A>T c.4895A>T c.1890A>T (p.Gly630=) c.7824A>T (p.Gly2608=) c.896-29992A>T c.2655A>T (p.Gly885=) c.7698A>T (p.Gly2566=) n.1627A>T c.7827A>T (p.Gly2609=) | |
2 | g.73489783_73489784del | CA913090800 | ALMS1 | c.7443_7444del (p.Pro2482LeufsTer?) c.835_836del c.4895_4896del c.1890_1891del (p.Pro631LeufsTer?) c.7824_7825del (p.Pro2609LeufsTer?) c.896-29992_896-29991del c.2655_2656del (p.Pro886LeufsTer?) c.7698_7699del (p.Pro2567LeufsTer?) n.1627_1628del c.7827_7828del (p.Pro2610LeufsTer?) | |
2 | g.73489783_73489784delinsAC | CA1260981158 | ALMS1 | c.7443_7444delinsAC (p.Gly2481=) c.835_836delinsAC c.4895_4896delinsAC c.1890_1891delinsAC (p.Gly630=) c.7824_7825delinsAC (p.Gly2608=) c.896-29992_896-29991delinsAC c.2655_2656delinsAC (p.Gly885=) c.7698_7699delinsAC (p.Gly2566=) n.1627_1628delinsAC c.7827_7828delinsAC (p.Gly2609=) |