Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.73490240C>A | CA347268104 | ALMS1 | c.7900C>A (p.Pro2634Thr) c.1292C>A c.5352C>A c.2347C>A (p.Pro783Thr) c.8281C>A (p.Pro2761Thr) c.896-29535C>A c.3030+82C>A (n.3030+82C>A) c.8155C>A (p.Pro2719Thr) n.2084C>A c.8284C>A (p.Pro2762Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73490240C= | CA1260981747 | ALMS1 | c.7900C= (p.Pro2634=) c.1292C= c.5352C= c.2347C= (p.Pro783=) c.8281C= (p.Pro2761=) c.896-29535C= c.3030+82C= (n.3030+82C=) c.8155C= (p.Pro2719=) n.2084C= c.8284C= (p.Pro2762=) | |
2 | g.73490240C>G | CA1714439 | ALMS1 | c.7900C>G (p.Pro2634Ala) c.1292C>G c.5352C>G c.2347C>G (p.Pro783Ala) c.8281C>G (p.Pro2761Ala) c.896-29535C>G c.3030+82C>G (n.3030+82C>G) c.8155C>G (p.Pro2719Ala) n.2084C>G c.8284C>G (p.Pro2762Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73490240C>T | CA1714440 | ALMS1 | c.7900C>T (p.Pro2634Ser) c.1292C>T c.5352C>T c.2347C>T (p.Pro783Ser) c.8281C>T (p.Pro2761Ser) c.896-29535C>T c.3030+82C>T (n.3030+82C>T) c.8155C>T (p.Pro2719Ser) n.2084C>T c.8284C>T (p.Pro2762Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73490240_73490242delinsACT | CA2580068250 | ALMS1 | c.7900_7902delinsACT (p.Pro2634Thr) c.1292_1294delinsACT c.5352_5354delinsACT c.2347_2349delinsACT (p.Pro783Thr) c.8281_8283delinsACT (p.Pro2761Thr) c.896-29535_896-29533delinsACT c.3030+82_3030+84delinsACT (n.3030+82_3030+84delinsACT) c.8155_8157delinsACT (p.Pro2719Thr) n.2084_2086delinsACT c.8284_8286delinsACT (p.Pro2762Thr) | ClinVar |
2 | g.73490241C>A | CA347268107 | ALMS1 | c.7901C>A (p.Pro2634His) c.1293C>A c.5353C>A c.2348C>A (p.Pro783His) c.8282C>A (p.Pro2761His) c.896-29534C>A c.3030+83C>A (n.3030+83C>A) c.8156C>A (p.Pro2719His) n.2085C>A c.8285C>A (p.Pro2762His) | |
2 | g.73490241C>G | CA347268108 | ALMS1 | c.7901C>G (p.Pro2634Arg) c.1293C>G c.5353C>G c.2348C>G (p.Pro783Arg) c.8282C>G (p.Pro2761Arg) c.896-29534C>G c.3030+83C>G (n.3030+83C>G) c.8156C>G (p.Pro2719Arg) n.2085C>G c.8285C>G (p.Pro2762Arg) | |
2 | g.73490241C>T | CA347268109 | ALMS1 | c.7901C>T (p.Pro2634Leu) c.1293C>T c.5353C>T c.2348C>T (p.Pro783Leu) c.8282C>T (p.Pro2761Leu) c.896-29534C>T c.3030+83C>T (n.3030+83C>T) c.8156C>T (p.Pro2719Leu) n.2085C>T c.8285C>T (p.Pro2762Leu) | gnomAD v4 |
2 | g.73490242C>A | CA427001391 | ALMS1 | c.7902C>A (p.Pro2634=) c.1294C>A c.5354C>A c.2349C>A (p.Pro783=) c.8283C>A (p.Pro2761=) c.896-29533C>A c.3030+84C>A (n.3030+84C>A) c.8157C>A (p.Pro2719=) n.2086C>A c.8286C>A (p.Pro2762=) | |
2 | g.73490242C= | CA1260981755 | ALMS1 | c.7902C= (p.Pro2634=) c.1294C= c.5354C= c.2349C= (p.Pro783=) c.8283C= (p.Pro2761=) c.896-29533C= c.3030+84C= (n.3030+84C=) c.8157C= (p.Pro2719=) n.2086C= c.8286C= (p.Pro2762=) | |
2 | g.73490242C>G | CA427001393 | ALMS1 | c.7902C>G (p.Pro2634=) c.1294C>G c.5354C>G c.2349C>G (p.Pro783=) c.8283C>G (p.Pro2761=) c.896-29533C>G c.3030+84C>G (n.3030+84C>G) c.8157C>G (p.Pro2719=) n.2086C>G c.8286C>G (p.Pro2762=) | |
2 | g.73490242C>T | CA427001395 | ALMS1 | c.7902C>T (p.Pro2634=) c.1294C>T c.5354C>T c.2349C>T (p.Pro783=) c.8283C>T (p.Pro2761=) c.896-29533C>T c.3030+84C>T (n.3030+84C>T) c.8157C>T (p.Pro2719=) n.2086C>T c.8286C>T (p.Pro2762=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73490242_73490244del | CA2750465617 | ALMS1 | c.7902_7904del (p.Arg2635del) c.1294_1296del c.5354_5356del c.2349_2351del (p.Arg784del) c.8283_8285del (p.Arg2762del) c.896-29533_896-29531del c.3030+84_3030+86del (n.3030+84_3030+86del) c.8157_8159del (p.Arg2720del) n.2086_2088del c.8286_8288del (p.Arg2763del) | |
2 | g.73490243A= | CA1260981767 | ALMS1 | c.7903A= (p.Arg2635=) c.1295A= c.5355A= c.2350A= (p.Arg784=) c.8284A= (p.Arg2762=) c.896-29532A= c.3030+85A= (n.3030+85A=) c.8158A= (p.Arg2720=) n.2087A= c.8287A= (p.Arg2763=) | |
2 | g.73490243A>C | CA427001397 | ALMS1 | c.7903A>C (p.Arg2635=) c.1295A>C c.5355A>C c.2350A>C (p.Arg784=) c.8284A>C (p.Arg2762=) c.896-29532A>C c.3030+85A>C (n.3030+85A>C) c.8158A>C (p.Arg2720=) n.2087A>C c.8287A>C (p.Arg2763=) | |
2 | g.73490243A>G | CA347268110 | ALMS1 | c.7903A>G (p.Arg2635Gly) c.1295A>G c.5355A>G c.2350A>G (p.Arg784Gly) c.8284A>G (p.Arg2762Gly) c.896-29532A>G c.3030+85A>G (n.3030+85A>G) c.8158A>G (p.Arg2720Gly) n.2087A>G c.8287A>G (p.Arg2763Gly) | |
2 | g.73490243A>T | CA347268111 | ALMS1 | c.7903A>T (p.Arg2635Ter) c.1295A>T c.5355A>T c.2350A>T (p.Arg784Ter) c.8284A>T (p.Arg2762Ter) c.896-29532A>T c.3030+85A>T (n.3030+85A>T) c.8158A>T (p.Arg2720Ter) n.2087A>T c.8287A>T (p.Arg2763Ter) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73490244G>A | CA347268113 | ALMS1 | c.7904G>A (p.Arg2635Lys) c.1296G>A c.5356G>A c.2351G>A (p.Arg784Lys) c.8285G>A (p.Arg2762Lys) c.896-29531G>A c.3030+86G>A (n.3030+86G>A) c.8159G>A (p.Arg2720Lys) n.2088G>A c.8288G>A (p.Arg2763Lys) | |
2 | g.73490244G>C | CA347268115 | ALMS1 | c.7904G>C (p.Arg2635Thr) c.1296G>C c.5356G>C c.2351G>C (p.Arg784Thr) c.8285G>C (p.Arg2762Thr) c.896-29531G>C c.3030+86G>C (n.3030+86G>C) c.8159G>C (p.Arg2720Thr) n.2088G>C c.8288G>C (p.Arg2763Thr) | |
2 | g.73490244G>T | CA347268116 | ALMS1 | c.7904G>T (p.Arg2635Ile) c.1296G>T c.5356G>T c.2351G>T (p.Arg784Ile) c.8285G>T (p.Arg2762Ile) c.896-29531G>T c.3030+86G>T (n.3030+86G>T) c.8159G>T (p.Arg2720Ile) n.2088G>T c.8288G>T (p.Arg2763Ile) | |
2 | g.73490245A>C | CA347268117 | ALMS1 | c.7905A>C (p.Arg2635Ser) c.1297A>C c.5357A>C c.2352A>C (p.Arg784Ser) c.8286A>C (p.Arg2762Ser) c.896-29530A>C c.3030+87A>C (n.3030+87A>C) c.8160A>C (p.Arg2720Ser) n.2089A>C c.8289A>C (p.Arg2763Ser) | |
2 | g.73490245A>G | CA427001402 | ALMS1 | c.7905A>G (p.Arg2635=) c.1297A>G c.5357A>G c.2352A>G (p.Arg784=) c.8286A>G (p.Arg2762=) c.896-29530A>G c.3030+87A>G (n.3030+87A>G) c.8160A>G (p.Arg2720=) n.2089A>G c.8289A>G (p.Arg2763=) | ClinVar dbSNP |
2 | g.73490245A>T | CA347268119 | ALMS1 | c.7905A>T (p.Arg2635Ser) c.1297A>T c.5357A>T c.2352A>T (p.Arg784Ser) c.8286A>T (p.Arg2762Ser) c.896-29530A>T c.3030+87A>T (n.3030+87A>T) c.8160A>T (p.Arg2720Ser) n.2089A>T c.8289A>T (p.Arg2763Ser) | |
2 | g.73490246G>A | CA347268121 | ALMS1 | c.7906G>A (p.Asp2636Asn) c.1298G>A c.5358G>A c.2353G>A (p.Asp785Asn) c.8287G>A (p.Asp2763Asn) c.896-29529G>A c.3030+88G>A (n.3030+88G>A) c.8161G>A (p.Asp2721Asn) n.2090G>A c.8290G>A (p.Asp2764Asn) | |
2 | g.73490246G>C | CA347268123 | ALMS1 | c.7906G>C (p.Asp2636His) c.1298G>C c.5358G>C c.2353G>C (p.Asp785His) c.8287G>C (p.Asp2763His) c.896-29529G>C c.3030+88G>C (n.3030+88G>C) c.8161G>C (p.Asp2721His) n.2090G>C c.8290G>C (p.Asp2764His) | |
2 | g.73490246G>T | CA347268125 | ALMS1 | c.7906G>T (p.Asp2636Tyr) c.1298G>T c.5358G>T c.2353G>T (p.Asp785Tyr) c.8287G>T (p.Asp2763Tyr) c.896-29529G>T c.3030+88G>T (n.3030+88G>T) c.8161G>T (p.Asp2721Tyr) n.2090G>T c.8290G>T (p.Asp2764Tyr) | |
2 | g.73490247A= | CA1260981771 | ALMS1 | c.7907A= (p.Asp2636=) c.1299A= c.5359A= c.2354A= (p.Asp785=) c.8288A= (p.Asp2763=) c.896-29528A= c.3030+89A= (n.3030+89A=) c.8162A= (p.Asp2721=) n.2091A= c.8291A= (p.Asp2764=) | |
2 | g.73490247A>C | CA347268127 | ALMS1 | c.7907A>C (p.Asp2636Ala) c.1299A>C c.5359A>C c.2354A>C (p.Asp785Ala) c.8288A>C (p.Asp2763Ala) c.896-29528A>C c.3030+89A>C (n.3030+89A>C) c.8162A>C (p.Asp2721Ala) n.2091A>C c.8291A>C (p.Asp2764Ala) | |
2 | g.73490247A>G | CA347268129 | ALMS1 | c.7907A>G (p.Asp2636Gly) c.1299A>G c.5359A>G c.2354A>G (p.Asp785Gly) c.8288A>G (p.Asp2763Gly) c.896-29528A>G c.3030+89A>G (n.3030+89A>G) c.8162A>G (p.Asp2721Gly) n.2091A>G c.8291A>G (p.Asp2764Gly) | dbSNP |
2 | g.73490247A>T | CA347268130 | ALMS1 | c.7907A>T (p.Asp2636Val) c.1299A>T c.5359A>T c.2354A>T (p.Asp785Val) c.8288A>T (p.Asp2763Val) c.896-29528A>T c.3030+89A>T (n.3030+89A>T) c.8162A>T (p.Asp2721Val) n.2091A>T c.8291A>T (p.Asp2764Val) | gnomAD v4 |
2 | g.73490248T>A | CA347268134 | ALMS1 | c.7908T>A (p.Asp2636Glu) c.1300T>A c.5360T>A c.2355T>A (p.Asp785Glu) c.8289T>A (p.Asp2763Glu) c.896-29527T>A c.3030+90T>A (n.3030+90T>A) c.8163T>A (p.Asp2721Glu) n.2092T>A c.8292T>A (p.Asp2764Glu) | |
2 | g.73490248T>C | CA427001413 | ALMS1 | c.7908T>C (p.Asp2636=) c.1300T>C c.5360T>C c.2355T>C (p.Asp785=) c.8289T>C (p.Asp2763=) c.896-29527T>C c.3030+90T>C (n.3030+90T>C) c.8163T>C (p.Asp2721=) n.2092T>C c.8292T>C (p.Asp2764=) | |
2 | g.73490248T>G | CA347268132 | ALMS1 | c.7908T>G (p.Asp2636Glu) c.1300T>G c.5360T>G c.2355T>G (p.Asp785Glu) c.8289T>G (p.Asp2763Glu) c.896-29527T>G c.3030+90T>G (n.3030+90T>G) c.8163T>G (p.Asp2721Glu) n.2092T>G c.8292T>G (p.Asp2764Glu) | |
2 | g.73490249C>A | CA347268135 | ALMS1 | c.7909C>A (p.Leu2637Ile) c.1301C>A c.5361C>A c.2356C>A (p.Leu786Ile) c.8290C>A (p.Leu2764Ile) c.896-29526C>A c.3030+91C>A (n.3030+91C>A) c.8164C>A (p.Leu2722Ile) n.2093C>A c.8293C>A (p.Leu2765Ile) | gnomAD v4 |
2 | g.73490249C= | CA1260981774 | ALMS1 | c.7909C= (p.Leu2637=) c.1301C= c.5361C= c.2356C= (p.Leu786=) c.8290C= (p.Leu2764=) c.896-29526C= c.3030+91C= (n.3030+91C=) c.8164C= (p.Leu2722=) n.2093C= c.8293C= (p.Leu2765=) | |
2 | g.73490249C>G | CA347268137 | ALMS1 | c.7909C>G (p.Leu2637Val) c.1301C>G c.5361C>G c.2356C>G (p.Leu786Val) c.8290C>G (p.Leu2764Val) c.896-29526C>G c.3030+91C>G (n.3030+91C>G) c.8164C>G (p.Leu2722Val) n.2093C>G c.8293C>G (p.Leu2765Val) | |
2 | g.73490249C>T | CA347268138 | ALMS1 | c.7909C>T (p.Leu2637Phe) c.1301C>T c.5361C>T c.2356C>T (p.Leu786Phe) c.8290C>T (p.Leu2764Phe) c.896-29526C>T c.3030+91C>T (n.3030+91C>T) c.8164C>T (p.Leu2722Phe) n.2093C>T c.8293C>T (p.Leu2765Phe) | ClinVar dbSNP |
2 | g.73490249_73490256delinsCTTAAACA | CA1260981773 | ALMS1 | c.7909_7916delinsCTTAAACA (p.Leu2637=) c.1301_1308delinsCTTAAACA c.5361_5368delinsCTTAAACA c.2356_2363delinsCTTAAACA (p.Leu786=) c.8290_8297delinsCTTAAACA (p.Leu2764=) c.896-29526_896-29519delinsCTTAAACA c.3030+91_3030+98delinsCTTAAACA (n.3030+91_3030+98delinsCTTAAACA) c.8164_8171delinsCTTAAACA (p.Leu2722=) n.2093_2100delinsCTTAAACA c.8293_8300delinsCTTAAACA (p.Leu2765=) | |
2 | g.73490250T>A | CA347268140 | ALMS1 | c.7910T>A (p.Leu2637His) c.1302T>A c.5362T>A c.2357T>A (p.Leu786His) c.8291T>A (p.Leu2764His) c.896-29525T>A c.3030+92T>A (n.3030+92T>A) c.8165T>A (p.Leu2722His) n.2094T>A c.8294T>A (p.Leu2765His) | |
2 | g.73490250T>C | CA347268142 | ALMS1 | c.7910T>C (p.Leu2637Pro) c.1302T>C c.5362T>C c.2357T>C (p.Leu786Pro) c.8291T>C (p.Leu2764Pro) c.896-29525T>C c.3030+92T>C (n.3030+92T>C) c.8165T>C (p.Leu2722Pro) n.2094T>C c.8294T>C (p.Leu2765Pro) | gnomAD v4 |
2 | g.73490250T>G | CA347268143 | ALMS1 | c.7910T>G (p.Leu2637Arg) c.1302T>G c.5362T>G c.2357T>G (p.Leu786Arg) c.8291T>G (p.Leu2764Arg) c.896-29525T>G c.3030+92T>G (n.3030+92T>G) c.8165T>G (p.Leu2722Arg) n.2094T>G c.8294T>G (p.Leu2765Arg) | |
2 | g.73490250_73490251dup | CA1260981782 | ALMS1 | c.7910_7911dup (p.Lys2638LeufsTer22) c.1302_1303dup c.5362_5363dup c.2357_2358dup (p.Lys787LeufsTer22) c.8291_8292dup (p.Lys2765LeufsTer22) c.896-29525_896-29524dup c.3030+92_3030+93dup (n.3030+92_3030+93dup) c.8165_8166dup (p.Lys2723LeufsTer22) n.2094_2095dup c.8294_8295dup (p.Lys2766LeufsTer22) | dbSNP |
2 | g.73490250_73490256del | CA534125525 | ALMS1 | c.7910_7916del (p.Leu2637ArgfsTer20) c.1302_1308del c.5362_5368del c.2357_2363del (p.Leu786ArgfsTer20) c.8291_8297del (p.Leu2764ArgfsTer20) c.896-29525_896-29519del c.3030+92_3030+98del (n.3030+92_3030+98del) c.8165_8171del (p.Leu2722ArgfsTer20) n.2094_2100del c.8294_8300del (p.Leu2765ArgfsTer20) | dbSNP gnomAD v2 |
2 | g.73490251T>A | CA427001422 | ALMS1 | c.7911T>A (p.Leu2637=) c.1303T>A c.5363T>A c.2358T>A (p.Leu786=) c.8292T>A (p.Leu2764=) c.896-29524T>A c.3030+93T>A (n.3030+93T>A) c.8166T>A (p.Leu2722=) n.2095T>A c.8295T>A (p.Leu2765=) | |
2 | g.73490251T>C | CA427001424 | ALMS1 | c.7911T>C (p.Leu2637=) c.1303T>C c.5363T>C c.2358T>C (p.Leu786=) c.8292T>C (p.Leu2764=) c.896-29524T>C c.3030+93T>C (n.3030+93T>C) c.8166T>C (p.Leu2722=) n.2095T>C c.8295T>C (p.Leu2765=) | |
2 | g.73490251T>G | CA427001425 | ALMS1 | c.7911T>G (p.Leu2637=) c.1303T>G c.5363T>G c.2358T>G (p.Leu786=) c.8292T>G (p.Leu2764=) c.896-29524T>G c.3030+93T>G (n.3030+93T>G) c.8166T>G (p.Leu2722=) n.2095T>G c.8295T>G (p.Leu2765=) | |
2 | g.73490252A= | CA1260981784 | ALMS1 | c.7912A= (p.Lys2638=) c.1304A= c.5364A= c.2359A= (p.Lys787=) c.8293A= (p.Lys2765=) c.896-29523A= c.3030+94A= (n.3030+94A=) c.8167A= (p.Lys2723=) n.2096A= c.8296A= (p.Lys2766=) | |
2 | g.73490252A>C | CA347268145 | ALMS1 | c.7912A>C (p.Lys2638Gln) c.1304A>C c.5364A>C c.2359A>C (p.Lys787Gln) c.8293A>C (p.Lys2765Gln) c.896-29523A>C c.3030+94A>C (n.3030+94A>C) c.8167A>C (p.Lys2723Gln) n.2096A>C c.8296A>C (p.Lys2766Gln) | dbSNP |
2 | g.73490252A>G | CA347268148 | ALMS1 | c.7912A>G (p.Lys2638Glu) c.1304A>G c.5364A>G c.2359A>G (p.Lys787Glu) c.8293A>G (p.Lys2765Glu) c.896-29523A>G c.3030+94A>G (n.3030+94A>G) c.8167A>G (p.Lys2723Glu) n.2096A>G c.8296A>G (p.Lys2766Glu) | |
2 | g.73490252A>T | CA347268147 | ALMS1 | c.7912A>T (p.Lys2638Ter) c.1304A>T c.5364A>T c.2359A>T (p.Lys787Ter) c.8293A>T (p.Lys2765Ter) c.896-29523A>T c.3030+94A>T (n.3030+94A>T) c.8167A>T (p.Lys2723Ter) n.2096A>T c.8296A>T (p.Lys2766Ter) | |
2 | g.73490254dup | CA2739271087 | ALMS1 | c.7914dup (p.Gln2639ThrfsTer10) c.1306dup c.5366dup c.2361dup (p.Gln788ThrfsTer10) c.8295dup (p.Gln2766ThrfsTer10) c.896-29521dup c.3030+96dup (n.3030+96dup) c.8169dup (p.Gln2724ThrfsTer10) n.2098dup c.8298dup (p.Gln2767ThrfsTer10) | ClinVar |
2 | g.73490253A>C | CA347268150 | ALMS1 | c.7913A>C (p.Lys2638Thr) c.1305A>C c.5365A>C c.2360A>C (p.Lys787Thr) c.8294A>C (p.Lys2765Thr) c.896-29522A>C c.3030+95A>C (n.3030+95A>C) c.8168A>C (p.Lys2723Thr) n.2097A>C c.8297A>C (p.Lys2766Thr) | |
2 | g.73490253A>G | CA347268151 | ALMS1 | c.7913A>G (p.Lys2638Arg) c.1305A>G c.5365A>G c.2360A>G (p.Lys787Arg) c.8294A>G (p.Lys2765Arg) c.896-29522A>G c.3030+95A>G (n.3030+95A>G) c.8168A>G (p.Lys2723Arg) n.2097A>G c.8297A>G (p.Lys2766Arg) | |
2 | g.73490253A>T | CA347268153 | ALMS1 | c.7913A>T (p.Lys2638Ile) c.1305A>T c.5365A>T c.2360A>T (p.Lys787Ile) c.8294A>T (p.Lys2765Ile) c.896-29522A>T c.3030+95A>T (n.3030+95A>T) c.8168A>T (p.Lys2723Ile) n.2097A>T c.8297A>T (p.Lys2766Ile) | |
2 | g.73490254A>C | CA347268155 | ALMS1 | c.7914A>C (p.Lys2638Asn) c.1306A>C c.5366A>C c.2361A>C (p.Lys787Asn) c.8295A>C (p.Lys2765Asn) c.896-29521A>C c.3030+96A>C (n.3030+96A>C) c.8169A>C (p.Lys2723Asn) n.2098A>C c.8298A>C (p.Lys2766Asn) | |
2 | g.73490254A>G | CA427001430 | ALMS1 | c.7914A>G (p.Lys2638=) c.1306A>G c.5366A>G c.2361A>G (p.Lys787=) c.8295A>G (p.Lys2765=) c.896-29521A>G c.3030+96A>G (n.3030+96A>G) c.8169A>G (p.Lys2723=) n.2098A>G c.8298A>G (p.Lys2766=) | gnomAD v4 |
2 | g.73490254A>T | CA347268156 | ALMS1 | c.7914A>T (p.Lys2638Asn) c.1306A>T c.5366A>T c.2361A>T (p.Lys787Asn) c.8295A>T (p.Lys2765Asn) c.896-29521A>T c.3030+96A>T (n.3030+96A>T) c.8169A>T (p.Lys2723Asn) n.2098A>T c.8298A>T (p.Lys2766Asn) | |
2 | g.73490255C>A | CA347268158 | ALMS1 | c.7915C>A (p.Gln2639Lys) c.1307C>A c.5367C>A c.2362C>A (p.Gln788Lys) c.8296C>A (p.Gln2766Lys) c.896-29520C>A c.3030+97C>A (n.3030+97C>A) c.8170C>A (p.Gln2724Lys) n.2099C>A c.8299C>A (p.Gln2767Lys) | |
2 | g.73490255C>G | CA347268160 | ALMS1 | c.7915C>G (p.Gln2639Glu) c.1307C>G c.5367C>G c.2362C>G (p.Gln788Glu) c.8296C>G (p.Gln2766Glu) c.896-29520C>G c.3030+97C>G (n.3030+97C>G) c.8170C>G (p.Gln2724Glu) n.2099C>G c.8299C>G (p.Gln2767Glu) | ClinVar |
2 | g.73490255C>T | CA347268161 | ALMS1 | c.7915C>T (p.Gln2639Ter) c.1307C>T c.5367C>T c.2362C>T (p.Gln788Ter) c.8296C>T (p.Gln2766Ter) c.896-29520C>T c.3030+97C>T (n.3030+97C>T) c.8170C>T (p.Gln2724Ter) n.2099C>T c.8299C>T (p.Gln2767Ter) | gnomAD v4 |
2 | g.73490256A>C | CA347268163 | ALMS1 | c.7916A>C (p.Gln2639Pro) c.1308A>C c.5368A>C c.2363A>C (p.Gln788Pro) c.8297A>C (p.Gln2766Pro) c.896-29519A>C c.3030+98A>C (n.3030+98A>C) c.8171A>C (p.Gln2724Pro) n.2100A>C c.8300A>C (p.Gln2767Pro) | |
2 | g.73490256A>G | CA347268165 | ALMS1 | c.7916A>G (p.Gln2639Arg) c.1308A>G c.5368A>G c.2363A>G (p.Gln788Arg) c.8297A>G (p.Gln2766Arg) c.896-29519A>G c.3030+98A>G (n.3030+98A>G) c.8171A>G (p.Gln2724Arg) n.2100A>G c.8300A>G (p.Gln2767Arg) | |
2 | g.73490256A>T | CA347268167 | ALMS1 | c.7916A>T (p.Gln2639Leu) c.1308A>T c.5368A>T c.2363A>T (p.Gln788Leu) c.8297A>T (p.Gln2766Leu) c.896-29519A>T c.3030+98A>T (n.3030+98A>T) c.8171A>T (p.Gln2724Leu) n.2100A>T c.8300A>T (p.Gln2767Leu) | |
2 | g.73490257G>A | CA427001443 | ALMS1 | c.7917G>A (p.Gln2639=) c.1309G>A c.5369G>A c.2364G>A (p.Gln788=) c.8298G>A (p.Gln2766=) c.896-29518G>A c.3030+99G>A (n.3030+99G>A) c.8172G>A (p.Gln2724=) n.2101G>A c.8301G>A (p.Gln2767=) | ClinVar |
2 | g.73490257G>C | CA347268169 | ALMS1 | c.7917G>C (p.Gln2639His) c.1309G>C c.5369G>C c.2364G>C (p.Gln788His) c.8298G>C (p.Gln2766His) c.896-29518G>C c.3030+99G>C (n.3030+99G>C) c.8172G>C (p.Gln2724His) n.2101G>C c.8301G>C (p.Gln2767His) | |
2 | g.73490257G>T | CA347268170 | ALMS1 | c.7917G>T (p.Gln2639His) c.1309G>T c.5369G>T c.2364G>T (p.Gln788His) c.8298G>T (p.Gln2766His) c.896-29518G>T c.3030+99G>T (n.3030+99G>T) c.8172G>T (p.Gln2724His) n.2101G>T c.8301G>T (p.Gln2767His) | |
2 | g.73490258A= | CA1260981786 | ALMS1 | c.7918A= (p.Lys2640=) c.1310A= c.5370A= c.2365A= (p.Lys789=) c.8299A= (p.Lys2767=) c.896-29517A= c.3030+100A= (n.3030+100A=) c.8173A= (p.Lys2725=) n.2102A= c.8302A= (p.Lys2768=) | |
2 | g.73490258A>C | CA347268172 | ALMS1 | c.7918A>C (p.Lys2640Gln) c.1310A>C c.5370A>C c.2365A>C (p.Lys789Gln) c.8299A>C (p.Lys2767Gln) c.896-29517A>C c.3030+100A>C (n.3030+100A>C) c.8173A>C (p.Lys2725Gln) n.2102A>C c.8302A>C (p.Lys2768Gln) | |
2 | g.73490258A>G | CA1714441 | ALMS1 | c.7918A>G (p.Lys2640Glu) c.1310A>G c.5370A>G c.2365A>G (p.Lys789Glu) c.8299A>G (p.Lys2767Glu) c.896-29517A>G c.3030+100A>G (n.3030+100A>G) c.8173A>G (p.Lys2725Glu) n.2102A>G c.8302A>G (p.Lys2768Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73490258A>T | CA347268174 | ALMS1 | c.7918A>T (p.Lys2640Ter) c.1310A>T c.5370A>T c.2365A>T (p.Lys789Ter) c.8299A>T (p.Lys2767Ter) c.896-29517A>T c.3030+100A>T (n.3030+100A>T) c.8173A>T (p.Lys2725Ter) n.2102A>T c.8302A>T (p.Lys2768Ter) | |
2 | g.73490259A= | CA1260981789 | ALMS1 | c.7919A= (p.Lys2640=) c.1311A= c.5371A= c.2366A= (p.Lys789=) c.8300A= (p.Lys2767=) c.896-29516A= c.3030+101A= (n.3030+101A=) c.8174A= (p.Lys2725=) n.2103A= c.8303A= (p.Lys2768=) | |
2 | g.73490259A>C | CA347268176 | ALMS1 | c.7919A>C (p.Lys2640Thr) c.1311A>C c.5371A>C c.2366A>C (p.Lys789Thr) c.8300A>C (p.Lys2767Thr) c.896-29516A>C c.3030+101A>C (n.3030+101A>C) c.8174A>C (p.Lys2725Thr) n.2103A>C c.8303A>C (p.Lys2768Thr) | |
2 | g.73490259A>G | CA1714442 | ALMS1 | c.7919A>G (p.Lys2640Arg) c.1311A>G c.5371A>G c.2366A>G (p.Lys789Arg) c.8300A>G (p.Lys2767Arg) c.896-29516A>G c.3030+101A>G (n.3030+101A>G) c.8174A>G (p.Lys2725Arg) n.2103A>G c.8303A>G (p.Lys2768Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73490259A>T | CA347268178 | ALMS1 | c.7919A>T (p.Lys2640Ile) c.1311A>T c.5371A>T c.2366A>T (p.Lys789Ile) c.8300A>T (p.Lys2767Ile) c.896-29516A>T c.3030+101A>T (n.3030+101A>T) c.8174A>T (p.Lys2725Ile) n.2103A>T c.8303A>T (p.Lys2768Ile) | |
2 | g.73490260A>C | CA347268180 | ALMS1 | c.7920A>C (p.Lys2640Asn) c.1312A>C c.5372A>C c.2367A>C (p.Lys789Asn) c.8301A>C (p.Lys2767Asn) c.896-29515A>C c.3030+102A>C (n.3030+102A>C) c.8175A>C (p.Lys2725Asn) n.2104A>C c.8304A>C (p.Lys2768Asn) | |
2 | g.73490260A>G | CA427001449 | ALMS1 | c.7920A>G (p.Lys2640=) c.1312A>G c.5372A>G c.2367A>G (p.Lys789=) c.8301A>G (p.Lys2767=) c.896-29515A>G c.3030+102A>G (n.3030+102A>G) c.8175A>G (p.Lys2725=) n.2104A>G c.8304A>G (p.Lys2768=) | |
2 | g.73490260A>T | CA347268181 | ALMS1 | c.7920A>T (p.Lys2640Asn) c.1312A>T c.5372A>T c.2367A>T (p.Lys789Asn) c.8301A>T (p.Lys2767Asn) c.896-29515A>T c.3030+102A>T (n.3030+102A>T) c.8175A>T (p.Lys2725Asn) n.2104A>T c.8304A>T (p.Lys2768Asn) | |
2 | g.73490261A>C | CA347268183 | ALMS1 | c.7921A>C (p.Thr2641Pro) c.1313A>C c.5373A>C c.2368A>C (p.Thr790Pro) c.8302A>C (p.Thr2768Pro) c.896-29514A>C c.3030+103A>C (n.3030+103A>C) c.8176A>C (p.Thr2726Pro) n.2105A>C c.8305A>C (p.Thr2769Pro) | |
2 | g.73490261A>G | CA347268185 | ALMS1 | c.7921A>G (p.Thr2641Ala) c.1313A>G c.5373A>G c.2368A>G (p.Thr790Ala) c.8302A>G (p.Thr2768Ala) c.896-29514A>G c.3030+103A>G (n.3030+103A>G) c.8176A>G (p.Thr2726Ala) n.2105A>G c.8305A>G (p.Thr2769Ala) | |
2 | g.73490261A>T | CA347268187 | ALMS1 | c.7921A>T (p.Thr2641Ser) c.1313A>T c.5373A>T c.2368A>T (p.Thr790Ser) c.8302A>T (p.Thr2768Ser) c.896-29514A>T c.3030+103A>T (n.3030+103A>T) c.8176A>T (p.Thr2726Ser) n.2105A>T c.8305A>T (p.Thr2769Ser) | |
2 | g.73490262C>A | CA347268188 | ALMS1 | c.7922C>A (p.Thr2641Asn) c.1314C>A c.5374C>A c.2369C>A (p.Thr790Asn) c.8303C>A (p.Thr2768Asn) c.896-29513C>A c.3030+104C>A (n.3030+104C>A) c.8177C>A (p.Thr2726Asn) n.2106C>A c.8306C>A (p.Thr2769Asn) | |
2 | g.73490262C>G | CA347268189 | ALMS1 | c.7922C>G (p.Thr2641Ser) c.1314C>G c.5374C>G c.2369C>G (p.Thr790Ser) c.8303C>G (p.Thr2768Ser) c.896-29513C>G c.3030+104C>G (n.3030+104C>G) c.8177C>G (p.Thr2726Ser) n.2106C>G c.8306C>G (p.Thr2769Ser) | |
2 | g.73490262C>T | CA347268191 | ALMS1 | c.7922C>T (p.Thr2641Ile) c.1314C>T c.5374C>T c.2369C>T (p.Thr790Ile) c.8303C>T (p.Thr2768Ile) c.896-29513C>T c.3030+104C>T (n.3030+104C>T) c.8177C>T (p.Thr2726Ile) n.2106C>T c.8306C>T (p.Thr2769Ile) | gnomAD v4 |
2 | g.73490263C>A | CA427001457 | ALMS1 | c.7923C>A (p.Thr2641=) c.1315C>A c.5375C>A c.2370C>A (p.Thr790=) c.8304C>A (p.Thr2768=) c.896-29512C>A c.3030+105C>A (n.3030+105C>A) c.8178C>A (p.Thr2726=) n.2107C>A c.8307C>A (p.Thr2769=) | ClinVar dbSNP gnomAD v4 |
2 | g.73490263C>G | CA427001461 | ALMS1 | c.7923C>G (p.Thr2641=) c.1315C>G c.5375C>G c.2370C>G (p.Thr790=) c.8304C>G (p.Thr2768=) c.896-29512C>G c.3030+105C>G (n.3030+105C>G) c.8178C>G (p.Thr2726=) n.2107C>G c.8307C>G (p.Thr2769=) | ClinVar gnomAD v4 |
2 | g.73490263C>T | CA427001459 | ALMS1 | c.7923C>T (p.Thr2641=) c.1315C>T c.5375C>T c.2370C>T (p.Thr790=) c.8304C>T (p.Thr2768=) c.896-29512C>T c.3030+105C>T (n.3030+105C>T) c.8178C>T (p.Thr2726=) n.2107C>T c.8307C>T (p.Thr2769=) | |
2 | g.73490265_73490266del | CA2586969433 | ALMS1 | c.7925_7926del (p.Ser2642PhefsTer6) c.1317_1318del c.5377_5378del c.2372_2373del (p.Ser791PhefsTer6) c.8306_8307del (p.Ser2769PhefsTer6) c.896-29510_896-29509del c.3030+107_3030+108del (n.3030+107_3030+108del) c.8180_8181del (p.Ser2727PhefsTer6) n.2109_2110del c.8309_8310del (p.Ser2770PhefsTer6) | |
2 | g.73490264T>A | CA347268194 | ALMS1 | c.7924T>A (p.Ser2642Thr) c.1316T>A c.5376T>A c.2371T>A (p.Ser791Thr) c.8305T>A (p.Ser2769Thr) c.896-29511T>A c.3030+106T>A (n.3030+106T>A) c.8179T>A (p.Ser2727Thr) n.2108T>A c.8308T>A (p.Ser2770Thr) | |
2 | g.73490264T>C | CA347268193 | ALMS1 | c.7924T>C (p.Ser2642Pro) c.1316T>C c.5376T>C c.2371T>C (p.Ser791Pro) c.8305T>C (p.Ser2769Pro) c.896-29511T>C c.3030+106T>C (n.3030+106T>C) c.8179T>C (p.Ser2727Pro) n.2108T>C c.8308T>C (p.Ser2770Pro) | |
2 | g.73490264T>G | CA347268192 | ALMS1 | c.7924T>G (p.Ser2642Ala) c.1316T>G c.5376T>G c.2371T>G (p.Ser791Ala) c.8305T>G (p.Ser2769Ala) c.896-29511T>G c.3030+106T>G (n.3030+106T>G) c.8179T>G (p.Ser2727Ala) n.2108T>G c.8308T>G (p.Ser2770Ala) | |
2 | g.73490265C>A | CA347268196 | ALMS1 | c.7925C>A (p.Ser2642Tyr) c.1317C>A c.5377C>A c.2372C>A (p.Ser791Tyr) c.8306C>A (p.Ser2769Tyr) c.896-29510C>A c.3030+107C>A (n.3030+107C>A) c.8180C>A (p.Ser2727Tyr) n.2109C>A c.8309C>A (p.Ser2770Tyr) | |
2 | g.73490265C= | CA1260981792 | ALMS1 | c.7925C= (p.Ser2642=) c.1317C= c.5377C= c.2372C= (p.Ser791=) c.8306C= (p.Ser2769=) c.896-29510C= c.3030+107C= (n.3030+107C=) c.8180C= (p.Ser2727=) n.2109C= c.8309C= (p.Ser2770=) | |
2 | g.73490265C>G | CA347268197 | ALMS1 | c.7925C>G (p.Ser2642Cys) c.1317C>G c.5377C>G c.2372C>G (p.Ser791Cys) c.8306C>G (p.Ser2769Cys) c.896-29510C>G c.3030+107C>G (n.3030+107C>G) c.8180C>G (p.Ser2727Cys) n.2109C>G c.8309C>G (p.Ser2770Cys) | |
2 | g.73490265C>T | CA16611111 | ALMS1 | c.7925C>T (p.Ser2642Phe) c.1317C>T c.5377C>T c.2372C>T (p.Ser791Phe) c.8306C>T (p.Ser2769Phe) c.896-29510C>T c.3030+107C>T (n.3030+107C>T) c.8180C>T (p.Ser2727Phe) n.2109C>T c.8309C>T (p.Ser2770Phe) | ClinVar dbSNP gnomAD v4 |
2 | g.73490266T>A | CA427001468 | ALMS1 | c.7926T>A (p.Ser2642=) c.1318T>A c.5378T>A c.2373T>A (p.Ser791=) c.8307T>A (p.Ser2769=) c.896-29509T>A c.3030+108T>A (n.3030+108T>A) c.8181T>A (p.Ser2727=) n.2110T>A c.8310T>A (p.Ser2770=) | |
2 | g.73490266T>C | CA427001467 | ALMS1 | c.7926T>C (p.Ser2642=) c.1318T>C c.5378T>C c.2373T>C (p.Ser791=) c.8307T>C (p.Ser2769=) c.896-29509T>C c.3030+108T>C (n.3030+108T>C) c.8181T>C (p.Ser2727=) n.2110T>C c.8310T>C (p.Ser2770=) | |
2 | g.73490266T>G | CA427001465 | ALMS1 | c.7926T>G (p.Ser2642=) c.1318T>G c.5378T>G c.2373T>G (p.Ser791=) c.8307T>G (p.Ser2769=) c.896-29509T>G c.3030+108T>G (n.3030+108T>G) c.8181T>G (p.Ser2727=) n.2110T>G c.8310T>G (p.Ser2770=) | |
2 | g.73490267T>A | CA347268198 | ALMS1 | c.7927T>A (p.Ser2643Thr) c.1319T>A c.5379T>A c.2374T>A (p.Ser792Thr) c.8308T>A (p.Ser2770Thr) c.896-29508T>A c.3030+109T>A (n.3030+109T>A) c.8182T>A (p.Ser2728Thr) n.2111T>A c.8311T>A (p.Ser2771Thr) | |
2 | g.73490267T>C | CA347268200 | ALMS1 | c.7927T>C (p.Ser2643Pro) c.1319T>C c.5379T>C c.2374T>C (p.Ser792Pro) c.8308T>C (p.Ser2770Pro) c.896-29508T>C c.3030+109T>C (n.3030+109T>C) c.8182T>C (p.Ser2728Pro) n.2111T>C c.8311T>C (p.Ser2771Pro) | |
2 | g.73490267T>G | CA347268202 | ALMS1 | c.7927T>G (p.Ser2643Ala) c.1319T>G c.5379T>G c.2374T>G (p.Ser792Ala) c.8308T>G (p.Ser2770Ala) c.896-29508T>G c.3030+109T>G (n.3030+109T>G) c.8182T>G (p.Ser2728Ala) n.2111T>G c.8311T>G (p.Ser2771Ala) | |
2 | g.73490268C>A | CA1714443 | ALMS1 | c.7928C>A (p.Ser2643Tyr) c.1320C>A c.5380C>A c.2375C>A (p.Ser792Tyr) c.8309C>A (p.Ser2770Tyr) c.896-29507C>A c.3030+110C>A (n.3030+110C>A) c.8183C>A (p.Ser2728Tyr) n.2112C>A c.8312C>A (p.Ser2771Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73490268C= | CA1260981798 | ALMS1 | c.7928C= (p.Ser2643=) c.1320C= c.5380C= c.2375C= (p.Ser792=) c.8309C= (p.Ser2770=) c.896-29507C= c.3030+110C= (n.3030+110C=) c.8183C= (p.Ser2728=) n.2112C= c.8312C= (p.Ser2771=) | |
2 | g.73490268C>G | CA50378408 | ALMS1 | c.7928C>G (p.Ser2643Cys) c.1320C>G c.5380C>G c.2375C>G (p.Ser792Cys) c.8309C>G (p.Ser2770Cys) c.896-29507C>G c.3030+110C>G (n.3030+110C>G) c.8183C>G (p.Ser2728Cys) n.2112C>G c.8312C>G (p.Ser2771Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73490268C>T | CA347268206 | ALMS1 | c.7928C>T (p.Ser2643Phe) c.1320C>T c.5380C>T c.2375C>T (p.Ser792Phe) c.8309C>T (p.Ser2770Phe) c.896-29507C>T c.3030+110C>T (n.3030+110C>T) c.8183C>T (p.Ser2728Phe) n.2112C>T c.8312C>T (p.Ser2771Phe) | dbSNP |
2 | g.73490271del | CA2586969434 | ALMS1 | c.7931del (p.Pro2644LeufsTer15) c.1323del c.5383del c.2378del (p.Pro793LeufsTer15) c.8312del (p.Pro2771LeufsTer15) c.896-29504del c.3030+113del (n.3030+113del) c.8186del (p.Pro2729LeufsTer15) n.2115del c.8315del (p.Pro2772LeufsTer15) | |
2 | g.73490269C>A | CA427001480 | ALMS1 | c.7929C>A (p.Ser2643=) c.1321C>A c.5381C>A c.2376C>A (p.Ser792=) c.8310C>A (p.Ser2770=) c.896-29506C>A c.3030+111C>A (n.3030+111C>A) c.8184C>A (p.Ser2728=) n.2113C>A c.8313C>A (p.Ser2771=) | |
2 | g.73490269C>G | CA427001477 | ALMS1 | c.7929C>G (p.Ser2643=) c.1321C>G c.5381C>G c.2376C>G (p.Ser792=) c.8310C>G (p.Ser2770=) c.896-29506C>G c.3030+111C>G (n.3030+111C>G) c.8184C>G (p.Ser2728=) n.2113C>G c.8313C>G (p.Ser2771=) | |
2 | g.73490269C>T | CA427001479 | ALMS1 | c.7929C>T (p.Ser2643=) c.1321C>T c.5381C>T c.2376C>T (p.Ser792=) c.8310C>T (p.Ser2770=) c.896-29506C>T c.3030+111C>T (n.3030+111C>T) c.8184C>T (p.Ser2728=) n.2113C>T c.8313C>T (p.Ser2771=) | ClinVar dbSNP |
2 | g.73490270C>A | CA347268207 | ALMS1 | c.7930C>A (p.Pro2644Thr) c.1322C>A c.5382C>A c.2377C>A (p.Pro793Thr) c.8311C>A (p.Pro2771Thr) c.896-29505C>A c.3030+112C>A (n.3030+112C>A) c.8185C>A (p.Pro2729Thr) n.2114C>A c.8314C>A (p.Pro2772Thr) | ClinVar dbSNP gnomAD v4 |
2 | g.73490270C= | CA1260981802 | ALMS1 | c.7930C= (p.Pro2644=) c.1322C= c.5382C= c.2377C= (p.Pro793=) c.8311C= (p.Pro2771=) c.896-29505C= c.3030+112C= (n.3030+112C=) c.8185C= (p.Pro2729=) n.2114C= c.8314C= (p.Pro2772=) | |
2 | g.73490270C>G | CA347268209 | ALMS1 | c.7930C>G (p.Pro2644Ala) c.1322C>G c.5382C>G c.2377C>G (p.Pro793Ala) c.8311C>G (p.Pro2771Ala) c.896-29505C>G c.3030+112C>G (n.3030+112C>G) c.8185C>G (p.Pro2729Ala) n.2114C>G c.8314C>G (p.Pro2772Ala) | |
2 | g.73490270C>T | CA347268210 | ALMS1 | c.7930C>T (p.Pro2644Ser) c.1322C>T c.5382C>T c.2377C>T (p.Pro793Ser) c.8311C>T (p.Pro2771Ser) c.896-29505C>T c.3030+112C>T (n.3030+112C>T) c.8185C>T (p.Pro2729Ser) n.2114C>T c.8314C>T (p.Pro2772Ser) | dbSNP |
2 | g.73490271C>A | CA347268215 | ALMS1 | c.7931C>A (p.Pro2644His) c.1323C>A c.5383C>A c.2378C>A (p.Pro793His) c.8312C>A (p.Pro2771His) c.896-29504C>A c.3030+113C>A (n.3030+113C>A) c.8186C>A (p.Pro2729His) n.2115C>A c.8315C>A (p.Pro2772His) | |
2 | g.73490271C>G | CA347268213 | ALMS1 | c.7931C>G (p.Pro2644Arg) c.1323C>G c.5383C>G c.2378C>G (p.Pro793Arg) c.8312C>G (p.Pro2771Arg) c.896-29504C>G c.3030+113C>G (n.3030+113C>G) c.8186C>G (p.Pro2729Arg) n.2115C>G c.8315C>G (p.Pro2772Arg) | |
2 | g.73490271C>T | CA347268211 | ALMS1 | c.7931C>T (p.Pro2644Leu) c.1323C>T c.5383C>T c.2378C>T (p.Pro793Leu) c.8312C>T (p.Pro2771Leu) c.896-29504C>T c.3030+113C>T (n.3030+113C>T) c.8186C>T (p.Pro2729Leu) n.2115C>T c.8315C>T (p.Pro2772Leu) | |
2 | g.73490272T>A | CA427001488 | ALMS1 | c.7932T>A (p.Pro2644=) c.1324T>A c.5384T>A c.2379T>A (p.Pro793=) c.8313T>A (p.Pro2771=) c.896-29503T>A c.3030+114T>A (n.3030+114T>A) c.8187T>A (p.Pro2729=) n.2116T>A c.8316T>A (p.Pro2772=) | |
2 | g.73490272T>C | CA427001490 | ALMS1 | c.7932T>C (p.Pro2644=) c.1324T>C c.5384T>C c.2379T>C (p.Pro793=) c.8313T>C (p.Pro2771=) c.896-29503T>C c.3030+114T>C (n.3030+114T>C) c.8187T>C (p.Pro2729=) n.2116T>C c.8316T>C (p.Pro2772=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73490272T>G | CA427001492 | ALMS1 | c.7932T>G (p.Pro2644=) c.1324T>G c.5384T>G c.2379T>G (p.Pro793=) c.8313T>G (p.Pro2771=) c.896-29503T>G c.3030+114T>G (n.3030+114T>G) c.8187T>G (p.Pro2729=) n.2116T>G c.8316T>G (p.Pro2772=) | |
2 | g.73490272T= | CA1260981808 | ALMS1 | c.7932T= (p.Pro2644=) c.1324T= c.5384T= c.2379T= (p.Pro793=) c.8313T= (p.Pro2771=) c.896-29503T= c.3030+114T= (n.3030+114T=) c.8187T= (p.Pro2729=) n.2116T= c.8316T= (p.Pro2772=) | |
2 | g.73490272_73490275delinsTTCA | CA1260981806 | ALMS1 | c.7932_7935delinsTTCA (p.Pro2644=) c.1324_1327delinsTTCA c.5384_5387delinsTTCA c.2379_2382delinsTTCA (p.Pro793=) c.8313_8316delinsTTCA (p.Pro2771=) c.896-29503_896-29500delinsTTCA c.3030+114_3030+117delinsTTCA (n.3030+114_3030+117delinsTTCA) c.8187_8190delinsTTCA (p.Pro2729=) n.2116_2119delinsTTCA c.8316_8319delinsTTCA (p.Pro2772=) | |
2 | g.73490273_73490276del | CA913090807 | ALMS1 | c.7933_7936del (p.Ser2645HisfsTer13) c.1325_1328del c.5385_5388del c.2380_2383del (p.Ser794HisfsTer13) c.8314_8317del (p.Ser2772HisfsTer13) c.896-29502_896-29499del c.3030+115_3030+118del (n.3030+115_3030+118del) c.8188_8191del (p.Ser2730HisfsTer13) n.2117_2120del c.8317_8320del (p.Ser2773HisfsTer13) | |
2 | g.73490273T>A | CA347268217 | ALMS1 | c.7933T>A (p.Ser2645Thr) c.1325T>A c.5385T>A c.2380T>A (p.Ser794Thr) c.8314T>A (p.Ser2772Thr) c.896-29502T>A c.3030+115T>A (n.3030+115T>A) c.8188T>A (p.Ser2730Thr) n.2117T>A c.8317T>A (p.Ser2773Thr) | |
2 | g.73490273T>C | CA347268218 | ALMS1 | c.7933T>C (p.Ser2645Pro) c.1325T>C c.5385T>C c.2380T>C (p.Ser794Pro) c.8314T>C (p.Ser2772Pro) c.896-29502T>C c.3030+115T>C (n.3030+115T>C) c.8188T>C (p.Ser2730Pro) n.2117T>C c.8317T>C (p.Ser2773Pro) | |
2 | g.73490273T>G | CA347268221 | ALMS1 | c.7933T>G (p.Ser2645Ala) c.1325T>G c.5385T>G c.2380T>G (p.Ser794Ala) c.8314T>G (p.Ser2772Ala) c.896-29502T>G c.3030+115T>G (n.3030+115T>G) c.8188T>G (p.Ser2730Ala) n.2117T>G c.8317T>G (p.Ser2773Ala) | |
2 | g.73490277_73490279del | CA1714444 | ALMS1 | c.7937_7939del (p.Ser2646del) c.1329_1331del c.5389_5391del c.2384_2386del (p.Ser795del) c.8318_8320del (p.Ser2773del) c.896-29498_896-29496del c.3030+119_3030+121del (n.3030+119_3030+121del) c.8192_8194del (p.Ser2731del) n.2121_2123del c.8321_8323del (p.Ser2774del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73490274C>A | CA347268222 | ALMS1 | c.7934C>A (p.Ser2645Ter) c.1326C>A c.5386C>A c.2381C>A (p.Ser794Ter) c.8315C>A (p.Ser2772Ter) c.896-29501C>A c.3030+116C>A (n.3030+116C>A) c.8189C>A (p.Ser2730Ter) n.2118C>A c.8318C>A (p.Ser2773Ter) | |
2 | g.73490274C>G | CA347268223 | ALMS1 | c.7934C>G (p.Ser2645Ter) c.1326C>G c.5386C>G c.2381C>G (p.Ser794Ter) c.8315C>G (p.Ser2772Ter) c.896-29501C>G c.3030+116C>G (n.3030+116C>G) c.8189C>G (p.Ser2730Ter) n.2118C>G c.8318C>G (p.Ser2773Ter) | |
2 | g.73490274C>T | CA347268224 | ALMS1 | c.7934C>T (p.Ser2645Leu) c.1326C>T c.5386C>T c.2381C>T (p.Ser794Leu) c.8315C>T (p.Ser2772Leu) c.896-29501C>T c.3030+116C>T (n.3030+116C>T) c.8189C>T (p.Ser2730Leu) n.2118C>T c.8318C>T (p.Ser2773Leu) | gnomAD v4 |
2 | g.73490275A= | CA1260981809 | ALMS1 | c.7935A= (p.Ser2645=) c.1327A= c.5387A= c.2382A= (p.Ser794=) c.8316A= (p.Ser2772=) c.896-29500A= c.3030+117A= (n.3030+117A=) c.8190A= (p.Ser2730=) n.2119A= c.8319A= (p.Ser2773=) | |
2 | g.73490275A>C | CA50378422 | ALMS1 | c.7935A>C (p.Ser2645=) c.1327A>C c.5387A>C c.2382A>C (p.Ser794=) c.8316A>C (p.Ser2772=) c.896-29500A>C c.3030+117A>C (n.3030+117A>C) c.8190A>C (p.Ser2730=) n.2119A>C c.8319A>C (p.Ser2773=) | dbSNP gnomAD v4 |
2 | g.73490275A>G | CA427001502 | ALMS1 | c.7935A>G (p.Ser2645=) c.1327A>G c.5387A>G c.2382A>G (p.Ser794=) c.8316A>G (p.Ser2772=) c.896-29500A>G c.3030+117A>G (n.3030+117A>G) c.8190A>G (p.Ser2730=) n.2119A>G c.8319A>G (p.Ser2773=) | ClinVar |
2 | g.73490275A>T | CA1714445 | ALMS1 | c.7935A>T (p.Ser2645=) c.1327A>T c.5387A>T c.2382A>T (p.Ser794=) c.8316A>T (p.Ser2772=) c.896-29500A>T c.3030+117A>T (n.3030+117A>T) c.8190A>T (p.Ser2730=) n.2119A>T c.8319A>T (p.Ser2773=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73490276T>A | CA347268226 | ALMS1 | c.7936T>A (p.Ser2646Thr) c.1328T>A c.5388T>A c.2383T>A (p.Ser795Thr) c.8317T>A (p.Ser2773Thr) c.896-29499T>A c.3030+118T>A (n.3030+118T>A) c.8191T>A (p.Ser2731Thr) n.2120T>A c.8320T>A (p.Ser2774Thr) | |
2 | g.73490276T>C | CA347268228 | ALMS1 | c.7936T>C (p.Ser2646Pro) c.1328T>C c.5388T>C c.2383T>C (p.Ser795Pro) c.8317T>C (p.Ser2773Pro) c.896-29499T>C c.3030+118T>C (n.3030+118T>C) c.8191T>C (p.Ser2731Pro) n.2120T>C c.8320T>C (p.Ser2774Pro) | |
2 | g.73490276T>G | CA347268229 | ALMS1 | c.7936T>G (p.Ser2646Ala) c.1328T>G c.5388T>G c.2383T>G (p.Ser795Ala) c.8317T>G (p.Ser2773Ala) c.896-29499T>G c.3030+118T>G (n.3030+118T>G) c.8191T>G (p.Ser2731Ala) n.2120T>G c.8320T>G (p.Ser2774Ala) | |
2 | g.73490277C>A | CA347268231 | ALMS1 | c.7937C>A (p.Ser2646Ter) c.1329C>A c.5389C>A c.2384C>A (p.Ser795Ter) c.8318C>A (p.Ser2773Ter) c.896-29498C>A c.3030+119C>A (n.3030+119C>A) c.8192C>A (p.Ser2731Ter) n.2121C>A c.8321C>A (p.Ser2774Ter) | |
2 | g.73490277C>G | CA347268233 | ALMS1 | c.7937C>G (p.Ser2646Ter) c.1329C>G c.5389C>G c.2384C>G (p.Ser795Ter) c.8318C>G (p.Ser2773Ter) c.896-29498C>G c.3030+119C>G (n.3030+119C>G) c.8192C>G (p.Ser2731Ter) n.2121C>G c.8321C>G (p.Ser2774Ter) | |
2 | g.73490277C>T | CA347268234 | ALMS1 | c.7937C>T (p.Ser2646Leu) c.1329C>T c.5389C>T c.2384C>T (p.Ser795Leu) c.8318C>T (p.Ser2773Leu) c.896-29498C>T c.3030+119C>T (n.3030+119C>T) c.8192C>T (p.Ser2731Leu) n.2121C>T c.8321C>T (p.Ser2774Leu) | |
2 | g.73490278A= | CA1260981810 | ALMS1 | c.7938A= (p.Ser2646=) c.1330A= c.5390A= c.2385A= (p.Ser795=) c.8319A= (p.Ser2773=) c.896-29497A= c.3030+120A= (n.3030+120A=) c.8193A= (p.Ser2731=) n.2122A= c.8322A= (p.Ser2774=) | |
2 | g.73490278A>C | CA427001506 | ALMS1 | c.7938A>C (p.Ser2646=) c.1330A>C c.5390A>C c.2385A>C (p.Ser795=) c.8319A>C (p.Ser2773=) c.896-29497A>C c.3030+120A>C (n.3030+120A>C) c.8193A>C (p.Ser2731=) n.2122A>C c.8322A>C (p.Ser2774=) | |
2 | g.73490278A>G | CA1714446 | ALMS1 | c.7938A>G (p.Ser2646=) c.1330A>G c.5390A>G c.2385A>G (p.Ser795=) c.8319A>G (p.Ser2773=) c.896-29497A>G c.3030+120A>G (n.3030+120A>G) c.8193A>G (p.Ser2731=) n.2122A>G c.8322A>G (p.Ser2774=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73490278A>T | CA427001509 | ALMS1 | c.7938A>T (p.Ser2646=) c.1330A>T c.5390A>T c.2385A>T (p.Ser795=) c.8319A>T (p.Ser2773=) c.896-29497A>T c.3030+120A>T (n.3030+120A>T) c.8193A>T (p.Ser2731=) n.2122A>T c.8322A>T (p.Ser2774=) | |
2 | g.73490279T>A | CA347268237 | ALMS1 | c.7939T>A (p.Phe2647Ile) c.1331T>A c.5391T>A c.2386T>A (p.Phe796Ile) c.8320T>A (p.Phe2774Ile) c.896-29496T>A c.3030+121T>A (n.3030+121T>A) c.8194T>A (p.Phe2732Ile) n.2123T>A c.8323T>A (p.Phe2775Ile) | |
2 | g.73490279T>C | CA347268239 | ALMS1 | c.7939T>C (p.Phe2647Leu) c.1331T>C c.5391T>C c.2386T>C (p.Phe796Leu) c.8320T>C (p.Phe2774Leu) c.896-29496T>C c.3030+121T>C (n.3030+121T>C) c.8194T>C (p.Phe2732Leu) n.2123T>C c.8323T>C (p.Phe2775Leu) | |
2 | g.73490279T>G | CA347268240 | ALMS1 | c.7939T>G (p.Phe2647Val) c.1331T>G c.5391T>G c.2386T>G (p.Phe796Val) c.8320T>G (p.Phe2774Val) c.896-29496T>G c.3030+121T>G (n.3030+121T>G) c.8194T>G (p.Phe2732Val) n.2123T>G c.8323T>G (p.Phe2775Val) | |
2 | g.73490280T>A | CA347268241 | ALMS1 | c.7940T>A (p.Phe2647Tyr) c.1332T>A c.5392T>A c.2387T>A (p.Phe796Tyr) c.8321T>A (p.Phe2774Tyr) c.896-29495T>A c.3030+122T>A (n.3030+122T>A) c.8195T>A (p.Phe2732Tyr) n.2124T>A c.8324T>A (p.Phe2775Tyr) | |
2 | g.73490280T>C | CA347268242 | ALMS1 | c.7940T>C (p.Phe2647Ser) c.1332T>C c.5392T>C c.2387T>C (p.Phe796Ser) c.8321T>C (p.Phe2774Ser) c.896-29495T>C c.3030+122T>C (n.3030+122T>C) c.8195T>C (p.Phe2732Ser) n.2124T>C c.8324T>C (p.Phe2775Ser) | |
2 | g.73490280T>G | CA1714447 | ALMS1 | c.7940T>G (p.Phe2647Cys) c.1332T>G c.5392T>G c.2387T>G (p.Phe796Cys) c.8321T>G (p.Phe2774Cys) c.896-29495T>G c.3030+122T>G (n.3030+122T>G) c.8195T>G (p.Phe2732Cys) n.2124T>G c.8324T>G (p.Phe2775Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73490280T= | CA1260981811 | ALMS1 | c.7940T= (p.Phe2647=) c.1332T= c.5392T= c.2387T= (p.Phe796=) c.8321T= (p.Phe2774=) c.896-29495T= c.3030+122T= (n.3030+122T=) c.8195T= (p.Phe2732=) n.2124T= c.8324T= (p.Phe2775=) | |
2 | g.73490281T>A | CA347268244 | ALMS1 | c.7941T>A (p.Phe2647Leu) c.1333T>A c.5393T>A c.2388T>A (p.Phe796Leu) c.8322T>A (p.Phe2774Leu) c.896-29494T>A c.3030+123T>A (n.3030+123T>A) c.8196T>A (p.Phe2732Leu) n.2125T>A c.8325T>A (p.Phe2775Leu) | |
2 | g.73490281T>C | CA427001519 | ALMS1 | c.7941T>C (p.Phe2647=) c.1333T>C c.5393T>C c.2388T>C (p.Phe796=) c.8322T>C (p.Phe2774=) c.896-29494T>C c.3030+123T>C (n.3030+123T>C) c.8196T>C (p.Phe2732=) n.2125T>C c.8325T>C (p.Phe2775=) | |
2 | g.73490281T>G | CA347268245 | ALMS1 | c.7941T>G (p.Phe2647Leu) c.1333T>G c.5393T>G c.2388T>G (p.Phe796Leu) c.8322T>G (p.Phe2774Leu) c.896-29494T>G c.3030+123T>G (n.3030+123T>G) c.8196T>G (p.Phe2732Leu) n.2125T>G c.8325T>G (p.Phe2775Leu) | |
2 | g.73490282A= | CA1260981812 | ALMS1 | c.7942A= (p.Lys2648=) c.1334A= c.5394A= c.2389A= (p.Lys797=) c.8323A= (p.Lys2775=) c.896-29493A= c.3030+124A= (n.3030+124A=) c.8197A= (p.Lys2733=) n.2126A= c.8326A= (p.Lys2776=) | |
2 | g.73490282A>C | CA347268246 | ALMS1 | c.7942A>C (p.Lys2648Gln) c.1334A>C c.5394A>C c.2389A>C (p.Lys797Gln) c.8323A>C (p.Lys2775Gln) c.896-29493A>C c.3030+124A>C (n.3030+124A>C) c.8197A>C (p.Lys2733Gln) n.2126A>C c.8326A>C (p.Lys2776Gln) | |
2 | g.73490282A>G | CA347268247 | ALMS1 | c.7942A>G (p.Lys2648Glu) c.1334A>G c.5394A>G c.2389A>G (p.Lys797Glu) c.8323A>G (p.Lys2775Glu) c.896-29493A>G c.3030+124A>G (n.3030+124A>G) c.8197A>G (p.Lys2733Glu) n.2126A>G c.8326A>G (p.Lys2776Glu) | ClinVar dbSNP gnomAD v4 |
2 | g.73490282A>T | CA347268249 | ALMS1 | c.7942A>T (p.Lys2648Ter) c.1334A>T c.5394A>T c.2389A>T (p.Lys797Ter) c.8323A>T (p.Lys2775Ter) c.896-29493A>T c.3030+124A>T (n.3030+124A>T) c.8197A>T (p.Lys2733Ter) n.2126A>T c.8326A>T (p.Lys2776Ter) | |
2 | g.73490283A>C | CA347268250 | ALMS1 | c.7943A>C (p.Lys2648Thr) c.1335A>C c.5395A>C c.2390A>C (p.Lys797Thr) c.8324A>C (p.Lys2775Thr) c.896-29492A>C c.3030+125A>C (n.3030+125A>C) c.8198A>C (p.Lys2733Thr) n.2127A>C c.8327A>C (p.Lys2776Thr) | |
2 | g.73490283A>G | CA347268252 | ALMS1 | c.7943A>G (p.Lys2648Arg) c.1335A>G c.5395A>G c.2390A>G (p.Lys797Arg) c.8324A>G (p.Lys2775Arg) c.896-29492A>G c.3030+125A>G (n.3030+125A>G) c.8198A>G (p.Lys2733Arg) n.2127A>G c.8327A>G (p.Lys2776Arg) | ClinVar |
2 | g.73490283A>T | CA347268253 | ALMS1 | c.7943A>T (p.Lys2648Ile) c.1335A>T c.5395A>T c.2390A>T (p.Lys797Ile) c.8324A>T (p.Lys2775Ile) c.896-29492A>T c.3030+125A>T (n.3030+125A>T) c.8198A>T (p.Lys2733Ile) n.2127A>T c.8327A>T (p.Lys2776Ile) | |
2 | g.73490284A>C | CA347268254 | ALMS1 | c.7944A>C (p.Lys2648Asn) c.1336A>C c.5396A>C c.2391A>C (p.Lys797Asn) c.8325A>C (p.Lys2775Asn) c.896-29491A>C c.3030+126A>C (n.3030+126A>C) c.8199A>C (p.Lys2733Asn) n.2128A>C c.8328A>C (p.Lys2776Asn) | |
2 | g.73490284A>G | CA427001528 | ALMS1 | c.7944A>G (p.Lys2648=) c.1336A>G c.5396A>G c.2391A>G (p.Lys797=) c.8325A>G (p.Lys2775=) c.896-29491A>G c.3030+126A>G (n.3030+126A>G) c.8199A>G (p.Lys2733=) n.2128A>G c.8328A>G (p.Lys2776=) | |
2 | g.73490284A>T | CA347268255 | ALMS1 | c.7944A>T (p.Lys2648Asn) c.1336A>T c.5396A>T c.2391A>T (p.Lys797Asn) c.8325A>T (p.Lys2775Asn) c.896-29491A>T c.3030+126A>T (n.3030+126A>T) c.8199A>T (p.Lys2733Asn) n.2128A>T c.8328A>T (p.Lys2776Asn) | |
2 | g.73490285A>C | CA347268258 | ALMS1 | c.7945A>C (p.Met2649Leu) c.1337A>C c.5397A>C c.2392A>C (p.Met798Leu) c.8326A>C (p.Met2776Leu) c.896-29490A>C c.3030+127A>C (n.3030+127A>C) c.8200A>C (p.Met2734Leu) n.2129A>C c.8329A>C (p.Met2777Leu) | |
2 | g.73490285A>G | CA347268261 | ALMS1 | c.7945A>G (p.Met2649Val) c.1337A>G c.5397A>G c.2392A>G (p.Met798Val) c.8326A>G (p.Met2776Val) c.896-29490A>G c.3030+127A>G (n.3030+127A>G) c.8200A>G (p.Met2734Val) n.2129A>G c.8329A>G (p.Met2777Val) | |
2 | g.73490285A>T | CA347268259 | ALMS1 | c.7945A>T (p.Met2649Leu) c.1337A>T c.5397A>T c.2392A>T (p.Met798Leu) c.8326A>T (p.Met2776Leu) c.896-29490A>T c.3030+127A>T (n.3030+127A>T) c.8200A>T (p.Met2734Leu) n.2129A>T c.8329A>T (p.Met2777Leu) | gnomAD v4 |
2 | g.73490286T>A | CA347268262 | ALMS1 | c.7946T>A (p.Met2649Lys) c.1338T>A c.5398T>A c.2393T>A (p.Met798Lys) c.8327T>A (p.Met2776Lys) c.896-29489T>A c.3030+128T>A (n.3030+128T>A) c.8201T>A (p.Met2734Lys) n.2130T>A c.8330T>A (p.Met2777Lys) | |
2 | g.73490286T>C | CA347268264 | ALMS1 | c.7946T>C (p.Met2649Thr) c.1338T>C c.5398T>C c.2393T>C (p.Met798Thr) c.8327T>C (p.Met2776Thr) c.896-29489T>C c.3030+128T>C (n.3030+128T>C) c.8201T>C (p.Met2734Thr) n.2130T>C c.8330T>C (p.Met2777Thr) | |
2 | g.73490286T>G | CA347268265 | ALMS1 | c.7946T>G (p.Met2649Arg) c.1338T>G c.5398T>G c.2393T>G (p.Met798Arg) c.8327T>G (p.Met2776Arg) c.896-29489T>G c.3030+128T>G (n.3030+128T>G) c.8201T>G (p.Met2734Arg) n.2130T>G c.8330T>G (p.Met2777Arg) | |
2 | g.73490286_73490330del | CA2505291245 | ALMS1 | c.7946_7990del (p.Met2649_Gly2664delinsSer) c.1338_1382del c.5398_5442del c.2393_2437del (p.Met798_Gly813delinsSer) c.8327_8371del (p.Met2776_Gly2791delinsSer) c.896-29489_896-29445del c.3030+128_3030+172del (n.3030+128_3030+172del) c.8201_8245del (p.Met2734_Gly2749delinsSer) n.2130_2174del c.8330_8374del (p.Met2777_Gly2792delinsSer) | |
2 | g.73490287G>A | CA1714448 | ALMS1 | c.7947G>A (p.Met2649Ile) c.1339G>A c.5399G>A c.2394G>A (p.Met798Ile) c.8328G>A (p.Met2776Ile) c.896-29488G>A c.3030+129G>A (n.3030+129G>A) c.8202G>A (p.Met2734Ile) n.2131G>A c.8331G>A (p.Met2777Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73490287G>C | CA347268267 | ALMS1 | c.7947G>C (p.Met2649Ile) c.1339G>C c.5399G>C c.2394G>C (p.Met798Ile) c.8328G>C (p.Met2776Ile) c.896-29488G>C c.3030+129G>C (n.3030+129G>C) c.8202G>C (p.Met2734Ile) n.2131G>C c.8331G>C (p.Met2777Ile) | |
2 | g.73490287G= | CA1260981813 | ALMS1 | c.7947G= (p.Met2649=) c.1339G= c.5399G= c.2394G= (p.Met798=) c.8328G= (p.Met2776=) c.896-29488G= c.3030+129G= (n.3030+129G=) c.8202G= (p.Met2734=) n.2131G= c.8331G= (p.Met2777=) | |
2 | g.73490287G>T | CA347268268 | ALMS1 | c.7947G>T (p.Met2649Ile) c.1339G>T c.5399G>T c.2394G>T (p.Met798Ile) c.8328G>T (p.Met2776Ile) c.896-29488G>T c.3030+129G>T (n.3030+129G>T) c.8202G>T (p.Met2734Ile) n.2131G>T c.8331G>T (p.Met2777Ile) | |
2 | g.73490288C>A | CA347268273 | ALMS1 | c.7948C>A (p.His2650Asn) c.1340C>A c.5400C>A c.2395C>A (p.His799Asn) c.8329C>A (p.His2777Asn) c.896-29487C>A c.3030+130C>A (n.3030+130C>A) c.8203C>A (p.His2735Asn) n.2132C>A c.8332C>A (p.His2778Asn) | |
2 | g.73490288C= | CA1260981814 | ALMS1 | c.7948C= (p.His2650=) c.1340C= c.5400C= c.2395C= (p.His799=) c.8329C= (p.His2777=) c.896-29487C= c.3030+130C= (n.3030+130C=) c.8203C= (p.His2735=) n.2132C= c.8332C= (p.His2778=) | |
2 | g.73490288C>G | CA347268270 | ALMS1 | c.7948C>G (p.His2650Asp) c.1340C>G c.5400C>G c.2395C>G (p.His799Asp) c.8329C>G (p.His2777Asp) c.896-29487C>G c.3030+130C>G (n.3030+130C>G) c.8203C>G (p.His2735Asp) n.2132C>G c.8332C>G (p.His2778Asp) | |
2 | g.73490288C>T | CA347268272 | ALMS1 | c.7948C>T (p.His2650Tyr) c.1340C>T c.5400C>T c.2395C>T (p.His799Tyr) c.8329C>T (p.His2777Tyr) c.896-29487C>T c.3030+130C>T (n.3030+130C>T) c.8203C>T (p.His2735Tyr) n.2132C>T c.8332C>T (p.His2778Tyr) | dbSNP |
2 | g.73490289A= | CA1260981816 | ALMS1 | c.7949A= (p.His2650=) c.1341A= c.5401A= c.2396A= (p.His799=) c.8330A= (p.His2777=) c.896-29486A= c.3030+131A= (n.3030+131A=) c.8204A= (p.His2735=) n.2133A= c.8333A= (p.His2778=) | |
2 | g.73490289A>C | CA1714449 | ALMS1 | c.7949A>C (p.His2650Pro) c.1341A>C c.5401A>C c.2396A>C (p.His799Pro) c.8330A>C (p.His2777Pro) c.896-29486A>C c.3030+131A>C (n.3030+131A>C) c.8204A>C (p.His2735Pro) n.2133A>C c.8333A>C (p.His2778Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73490289A>G | CA347268275 | ALMS1 | c.7949A>G (p.His2650Arg) c.1341A>G c.5401A>G c.2396A>G (p.His799Arg) c.8330A>G (p.His2777Arg) c.896-29486A>G c.3030+131A>G (n.3030+131A>G) c.8204A>G (p.His2735Arg) n.2133A>G c.8333A>G (p.His2778Arg) | gnomAD v4 |
2 | g.73490289A>T | CA1714450 | ALMS1 | c.7949A>T (p.His2650Leu) c.1341A>T c.5401A>T c.2396A>T (p.His799Leu) c.8330A>T (p.His2777Leu) c.896-29486A>T c.3030+131A>T (n.3030+131A>T) c.8204A>T (p.His2735Leu) n.2133A>T c.8333A>T (p.His2778Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73490290T>A | CA347268279 | ALMS1 | c.7950T>A (p.His2650Gln) c.1342T>A c.5402T>A c.2397T>A (p.His799Gln) c.8331T>A (p.His2777Gln) c.896-29485T>A c.3030+132T>A (n.3030+132T>A) c.8205T>A (p.His2735Gln) n.2134T>A c.8334T>A (p.His2778Gln) | |
2 | g.73490290T>C | CA427001546 | ALMS1 | c.7950T>C (p.His2650=) c.1342T>C c.5402T>C c.2397T>C (p.His799=) c.8331T>C (p.His2777=) c.896-29485T>C c.3030+132T>C (n.3030+132T>C) c.8205T>C (p.His2735=) n.2134T>C c.8334T>C (p.His2778=) | gnomAD v4 |
2 | g.73490290T>G | CA347268281 | ALMS1 | c.7950T>G (p.His2650Gln) c.1342T>G c.5402T>G c.2397T>G (p.His799Gln) c.8331T>G (p.His2777Gln) c.896-29485T>G c.3030+132T>G (n.3030+132T>G) c.8205T>G (p.His2735Gln) n.2134T>G c.8334T>G (p.His2778Gln) | |
2 | g.73490291A= | CA1260981820 | ALMS1 | c.7951A= (p.Ser2651=) c.1343A= c.5403A= c.2398A= (p.Ser800=) c.8332A= (p.Ser2778=) c.896-29484A= c.3030+133A= (n.3030+133A=) c.8206A= (p.Ser2736=) n.2135A= c.8335A= (p.Ser2779=) | |
2 | g.73490291A>C | CA347268289 | ALMS1 | c.7951A>C (p.Ser2651Arg) c.1343A>C c.5403A>C c.2398A>C (p.Ser800Arg) c.8332A>C (p.Ser2778Arg) c.896-29484A>C c.3030+133A>C (n.3030+133A>C) c.8206A>C (p.Ser2736Arg) n.2135A>C c.8335A>C (p.Ser2779Arg) | |
2 | g.73490291A>G | CA347268284 | ALMS1 | c.7951A>G (p.Ser2651Gly) c.1343A>G c.5403A>G c.2398A>G (p.Ser800Gly) c.8332A>G (p.Ser2778Gly) c.896-29484A>G c.3030+133A>G (n.3030+133A>G) c.8206A>G (p.Ser2736Gly) n.2135A>G c.8335A>G (p.Ser2779Gly) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73490291A>T | CA347268287 | ALMS1 | c.7951A>T (p.Ser2651Cys) c.1343A>T c.5403A>T c.2398A>T (p.Ser800Cys) c.8332A>T (p.Ser2778Cys) c.896-29484A>T c.3030+133A>T (n.3030+133A>T) c.8206A>T (p.Ser2736Cys) n.2135A>T c.8335A>T (p.Ser2779Cys) | gnomAD v4 |
2 | g.73490292G>A | CA347268292 | ALMS1 | c.7952G>A (p.Ser2651Asn) c.1344G>A c.5404G>A c.2399G>A (p.Ser800Asn) c.8333G>A (p.Ser2778Asn) c.896-29483G>A c.3030+134G>A (n.3030+134G>A) c.8207G>A (p.Ser2736Asn) n.2136G>A c.8336G>A (p.Ser2779Asn) | |
2 | g.73490292G>C | CA347268294 | ALMS1 | c.7952G>C (p.Ser2651Thr) c.1344G>C c.5404G>C c.2399G>C (p.Ser800Thr) c.8333G>C (p.Ser2778Thr) c.896-29483G>C c.3030+134G>C (n.3030+134G>C) c.8207G>C (p.Ser2736Thr) n.2136G>C c.8336G>C (p.Ser2779Thr) | |
2 | g.73490292G>T | CA347268296 | ALMS1 | c.7952G>T (p.Ser2651Ile) c.1344G>T c.5404G>T c.2399G>T (p.Ser800Ile) c.8333G>T (p.Ser2778Ile) c.896-29483G>T c.3030+134G>T (n.3030+134G>T) c.8207G>T (p.Ser2736Ile) n.2136G>T c.8336G>T (p.Ser2779Ile) | |
2 | g.73490293del | CA2659619923 | ALMS1 | c.7953del (p.Ser2651ArgfsTer8) c.1345del c.5405del c.2400del (p.Ser800ArgfsTer8) c.8334del (p.Ser2778ArgfsTer8) c.896-29482del c.3030+135del (n.3030+135del) c.8208del (p.Ser2736ArgfsTer8) n.2137del c.8337del (p.Ser2779ArgfsTer8) | gnomAD v4 |
2 | g.73490293T>A | CA347268298 | ALMS1 | c.7953T>A (p.Ser2651Arg) c.1345T>A c.5405T>A c.2400T>A (p.Ser800Arg) c.8334T>A (p.Ser2778Arg) c.896-29482T>A c.3030+135T>A (n.3030+135T>A) c.8208T>A (p.Ser2736Arg) n.2137T>A c.8337T>A (p.Ser2779Arg) | |
2 | g.73490293T>C | CA427001552 | ALMS1 | c.7953T>C (p.Ser2651=) c.1345T>C c.5405T>C c.2400T>C (p.Ser800=) c.8334T>C (p.Ser2778=) c.896-29482T>C c.3030+135T>C (n.3030+135T>C) c.8208T>C (p.Ser2736=) n.2137T>C c.8337T>C (p.Ser2779=) | |
2 | g.73490293T>G | CA347268300 | ALMS1 | c.7953T>G (p.Ser2651Arg) c.1345T>G c.5405T>G c.2400T>G (p.Ser800Arg) c.8334T>G (p.Ser2778Arg) c.896-29482T>G c.3030+135T>G (n.3030+135T>G) c.8208T>G (p.Ser2736Arg) n.2137T>G c.8337T>G (p.Ser2779Arg) | |
2 | g.73490294A= | CA1260981822 | ALMS1 | c.7954A= (p.Asn2652=) c.1346A= c.5406A= c.2401A= (p.Asn801=) c.8335A= (p.Asn2779=) c.896-29481A= c.3030+136A= (n.3030+136A=) c.8209A= (p.Asn2737=) n.2138A= c.8338A= (p.Asn2780=) | |
2 | g.73490294A>C | CA347268301 | ALMS1 | c.7954A>C (p.Asn2652His) c.1346A>C c.5406A>C c.2401A>C (p.Asn801His) c.8335A>C (p.Asn2779His) c.896-29481A>C c.3030+136A>C (n.3030+136A>C) c.8209A>C (p.Asn2737His) n.2138A>C c.8338A>C (p.Asn2780His) | |
2 | g.73490294A>G | CA347268304 | ALMS1 | c.7954A>G (p.Asn2652Asp) c.1346A>G c.5406A>G c.2401A>G (p.Asn801Asp) c.8335A>G (p.Asn2779Asp) c.896-29481A>G c.3030+136A>G (n.3030+136A>G) c.8209A>G (p.Asn2737Asp) n.2138A>G c.8338A>G (p.Asn2780Asp) | ClinVar dbSNP gnomAD v4 |
2 | g.73490294A>T | CA347268307 | ALMS1 | c.7954A>T (p.Asn2652Tyr) c.1346A>T c.5406A>T c.2401A>T (p.Asn801Tyr) c.8335A>T (p.Asn2779Tyr) c.896-29481A>T c.3030+136A>T (n.3030+136A>T) c.8209A>T (p.Asn2737Tyr) n.2138A>T c.8338A>T (p.Asn2780Tyr) | gnomAD v4 |
2 | g.73490295A= | CA1260981826 | ALMS1 | c.7955A= (p.Asn2652=) c.1347A= c.5407A= c.2402A= (p.Asn801=) c.8336A= (p.Asn2779=) c.896-29480A= c.3030+137A= (n.3030+137A=) c.8210A= (p.Asn2737=) n.2139A= c.8339A= (p.Asn2780=) | |
2 | g.73490295A>C | CA347268310 | ALMS1 | c.7955A>C (p.Asn2652Thr) c.1347A>C c.5407A>C c.2402A>C (p.Asn801Thr) c.8336A>C (p.Asn2779Thr) c.896-29480A>C c.3030+137A>C (n.3030+137A>C) c.8210A>C (p.Asn2737Thr) n.2139A>C c.8339A>C (p.Asn2780Thr) | |
2 | g.73490295A>G | CA347268311 | ALMS1 | c.7955A>G (p.Asn2652Ser) c.1347A>G c.5407A>G c.2402A>G (p.Asn801Ser) c.8336A>G (p.Asn2779Ser) c.896-29480A>G c.3030+137A>G (n.3030+137A>G) c.8210A>G (p.Asn2737Ser) n.2139A>G c.8339A>G (p.Asn2780Ser) | gnomAD v4 |
2 | g.73490295A>T | CA1714451 | ALMS1 | c.7955A>T (p.Asn2652Ile) c.1347A>T c.5407A>T c.2402A>T (p.Asn801Ile) c.8336A>T (p.Asn2779Ile) c.896-29480A>T c.3030+137A>T (n.3030+137A>T) c.8210A>T (p.Asn2737Ile) n.2139A>T c.8339A>T (p.Asn2780Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73490296T>A | CA347268314 | ALMS1 | c.7956T>A (p.Asn2652Lys) c.1348T>A c.5408T>A c.2403T>A (p.Asn801Lys) c.8337T>A (p.Asn2779Lys) c.896-29479T>A c.3030+138T>A (n.3030+138T>A) c.8211T>A (p.Asn2737Lys) n.2140T>A c.8340T>A (p.Asn2780Lys) | |
2 | g.73490296T>C | CA427001562 | ALMS1 | c.7956T>C (p.Asn2652=) c.1348T>C c.5408T>C c.2403T>C (p.Asn801=) c.8337T>C (p.Asn2779=) c.896-29479T>C c.3030+138T>C (n.3030+138T>C) c.8211T>C (p.Asn2737=) n.2140T>C c.8340T>C (p.Asn2780=) | |
2 | g.73490296T>G | CA347268316 | ALMS1 | c.7956T>G (p.Asn2652Lys) c.1348T>G c.5408T>G c.2403T>G (p.Asn801Lys) c.8337T>G (p.Asn2779Lys) c.896-29479T>G c.3030+138T>G (n.3030+138T>G) c.8211T>G (p.Asn2737Lys) n.2140T>G c.8340T>G (p.Asn2780Lys) | |
2 | g.73490297T>A | CA347268323 | ALMS1 | c.7957T>A (p.Ser2653Thr) c.1349T>A c.5409T>A c.2404T>A (p.Ser802Thr) c.8338T>A (p.Ser2780Thr) c.896-29478T>A c.3030+139T>A (n.3030+139T>A) c.8212T>A (p.Ser2738Thr) n.2141T>A c.8341T>A (p.Ser2781Thr) | |
2 | g.73490297T>C | CA347268318 | ALMS1 | c.7957T>C (p.Ser2653Pro) c.1349T>C c.5409T>C c.2404T>C (p.Ser802Pro) c.8338T>C (p.Ser2780Pro) c.896-29478T>C c.3030+139T>C (n.3030+139T>C) c.8212T>C (p.Ser2738Pro) n.2141T>C c.8341T>C (p.Ser2781Pro) | |
2 | g.73490297T>G | CA347268320 | ALMS1 | c.7957T>G (p.Ser2653Ala) c.1349T>G c.5409T>G c.2404T>G (p.Ser802Ala) c.8338T>G (p.Ser2780Ala) c.896-29478T>G c.3030+139T>G (n.3030+139T>G) c.8212T>G (p.Ser2738Ala) n.2141T>G c.8341T>G (p.Ser2781Ala) | |
2 | g.73490298C>A | CA347268325 | ALMS1 | c.7958C>A (p.Ser2653Ter) c.1350C>A c.5410C>A c.2405C>A (p.Ser802Ter) c.8339C>A (p.Ser2780Ter) c.896-29477C>A c.3030+140C>A (n.3030+140C>A) c.8213C>A (p.Ser2738Ter) n.2142C>A c.8342C>A (p.Ser2781Ter) | |
2 | g.73490298C= | CA1260981829 | ALMS1 | c.7958C= (p.Ser2653=) c.1350C= c.5410C= c.2405C= (p.Ser802=) c.8339C= (p.Ser2780=) c.896-29477C= c.3030+140C= (n.3030+140C=) c.8213C= (p.Ser2738=) n.2142C= c.8342C= (p.Ser2781=) | |
2 | g.73490298C>G | CA347268328 | ALMS1 | c.7958C>G (p.Ser2653Ter) c.1350C>G c.5410C>G c.2405C>G (p.Ser802Ter) c.8339C>G (p.Ser2780Ter) c.896-29477C>G c.3030+140C>G (n.3030+140C>G) c.8213C>G (p.Ser2738Ter) n.2142C>G c.8342C>G (p.Ser2781Ter) | gnomAD v4 |
2 | g.73490298C>T | CA1714452 | ALMS1 | c.7958C>T (p.Ser2653Leu) c.1350C>T c.5410C>T c.2405C>T (p.Ser802Leu) c.8339C>T (p.Ser2780Leu) c.896-29477C>T c.3030+140C>T (n.3030+140C>T) c.8213C>T (p.Ser2738Leu) n.2142C>T c.8342C>T (p.Ser2781Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73490299A>C | CA427001572 | ALMS1 | c.7959A>C (p.Ser2653=) c.1351A>C c.5411A>C c.2406A>C (p.Ser802=) c.8340A>C (p.Ser2780=) c.896-29476A>C c.3030+141A>C (n.3030+141A>C) c.8214A>C (p.Ser2738=) n.2143A>C c.8343A>C (p.Ser2781=) | ClinVar |
2 | g.73490299A>G | CA427001568 | ALMS1 | c.7959A>G (p.Ser2653=) c.1351A>G c.5411A>G c.2406A>G (p.Ser802=) c.8340A>G (p.Ser2780=) c.896-29476A>G c.3030+141A>G (n.3030+141A>G) c.8214A>G (p.Ser2738=) n.2143A>G c.8343A>G (p.Ser2781=) | |
2 | g.73490299A>T | CA427001570 | ALMS1 | c.7959A>T (p.Ser2653=) c.1351A>T c.5411A>T c.2406A>T (p.Ser802=) c.8340A>T (p.Ser2780=) c.896-29476A>T c.3030+141A>T (n.3030+141A>T) c.8214A>T (p.Ser2738=) n.2143A>T c.8343A>T (p.Ser2781=) | |
2 | g.73490300C>A | CA347268333 | ALMS1 | c.7960C>A (p.Gln2654Lys) c.1352C>A c.5412C>A c.2407C>A (p.Gln803Lys) c.8341C>A (p.Gln2781Lys) c.896-29475C>A c.3030+142C>A (n.3030+142C>A) c.8215C>A (p.Gln2739Lys) n.2144C>A c.8344C>A (p.Gln2782Lys) | |
2 | g.73490300C>G | CA347268334 | ALMS1 | c.7960C>G (p.Gln2654Glu) c.1352C>G c.5412C>G c.2407C>G (p.Gln803Glu) c.8341C>G (p.Gln2781Glu) c.896-29475C>G c.3030+142C>G (n.3030+142C>G) c.8215C>G (p.Gln2739Glu) n.2144C>G c.8344C>G (p.Gln2782Glu) | |
2 | g.73490300C>T | CA347268337 | ALMS1 | c.7960C>T (p.Gln2654Ter) c.1352C>T c.5412C>T c.2407C>T (p.Gln803Ter) c.8341C>T (p.Gln2781Ter) c.896-29475C>T c.3030+142C>T (n.3030+142C>T) c.8215C>T (p.Gln2739Ter) n.2144C>T c.8344C>T (p.Gln2782Ter) | gnomAD v4 |
2 | g.73490301A>C | CA347268345 | ALMS1 | c.7961A>C (p.Gln2654Pro) c.1353A>C c.5413A>C c.2408A>C (p.Gln803Pro) c.8342A>C (p.Gln2781Pro) c.896-29474A>C c.3030+143A>C (n.3030+143A>C) c.8216A>C (p.Gln2739Pro) n.2145A>C c.8345A>C (p.Gln2782Pro) | |
2 | g.73490301A>G | CA347268340 | ALMS1 | c.7961A>G (p.Gln2654Arg) c.1353A>G c.5413A>G c.2408A>G (p.Gln803Arg) c.8342A>G (p.Gln2781Arg) c.896-29474A>G c.3030+143A>G (n.3030+143A>G) c.8216A>G (p.Gln2739Arg) n.2145A>G c.8345A>G (p.Gln2782Arg) | |
2 | g.73490301A>T | CA347268343 | ALMS1 | c.7961A>T (p.Gln2654Leu) c.1353A>T c.5413A>T c.2408A>T (p.Gln803Leu) c.8342A>T (p.Gln2781Leu) c.896-29474A>T c.3030+143A>T (n.3030+143A>T) c.8216A>T (p.Gln2739Leu) n.2145A>T c.8345A>T (p.Gln2782Leu) | |
2 | g.73490302del | CA2580068253 | ALMS1 | c.7962del (p.Asp2655IlefsTer4) c.1354del c.5414del c.2409del (p.Asp804IlefsTer4) c.8343del (p.Asp2782IlefsTer4) c.896-29473del c.3030+144del (n.3030+144del) c.8217del (p.Asp2740IlefsTer4) n.2146del c.8346del (p.Asp2783IlefsTer4) | ClinVar |
2 | g.73490302A>C | CA347268347 | ALMS1 | c.7962A>C (p.Gln2654His) c.1354A>C c.5414A>C c.2409A>C (p.Gln803His) c.8343A>C (p.Gln2781His) c.896-29473A>C c.3030+144A>C (n.3030+144A>C) c.8217A>C (p.Gln2739His) n.2146A>C c.8346A>C (p.Gln2782His) | |
2 | g.73490302A>G | CA427001579 | ALMS1 | c.7962A>G (p.Gln2654=) c.1354A>G c.5414A>G c.2409A>G (p.Gln803=) c.8343A>G (p.Gln2781=) c.896-29473A>G c.3030+144A>G (n.3030+144A>G) c.8217A>G (p.Gln2739=) n.2146A>G c.8346A>G (p.Gln2782=) | |
2 | g.73490302A>T | CA347268353 | ALMS1 | c.7962A>T (p.Gln2654His) c.1354A>T c.5414A>T c.2409A>T (p.Gln803His) c.8343A>T (p.Gln2781His) c.896-29473A>T c.3030+144A>T (n.3030+144A>T) c.8217A>T (p.Gln2739His) n.2146A>T c.8346A>T (p.Gln2782His) | gnomAD v4 |
2 | g.73490303G>A | CA347268356 | ALMS1 | c.7963G>A (p.Asp2655Asn) c.1355G>A c.5415G>A c.2410G>A (p.Asp804Asn) c.8344G>A (p.Asp2782Asn) c.896-29472G>A c.3030+145G>A (n.3030+145G>A) c.8218G>A (p.Asp2740Asn) n.2147G>A c.8347G>A (p.Asp2783Asn) | |
2 | g.73490303G>C | CA347268359 | ALMS1 | c.7963G>C (p.Asp2655His) c.1355G>C c.5415G>C c.2410G>C (p.Asp804His) c.8344G>C (p.Asp2782His) c.896-29472G>C c.3030+145G>C (n.3030+145G>C) c.8218G>C (p.Asp2740His) n.2147G>C c.8347G>C (p.Asp2783His) | |
2 | g.73490303G>T | CA347268361 | ALMS1 | c.7963G>T (p.Asp2655Tyr) c.1355G>T c.5415G>T c.2410G>T (p.Asp804Tyr) c.8344G>T (p.Asp2782Tyr) c.896-29472G>T c.3030+145G>T (n.3030+145G>T) c.8218G>T (p.Asp2740Tyr) n.2147G>T c.8347G>T (p.Asp2783Tyr) | |
2 | g.73490304A= | CA1260981832 | ALMS1 | c.7964A= (p.Asp2655=) c.1356A= c.5416A= c.2411A= (p.Asp804=) c.8345A= (p.Asp2782=) c.896-29471A= c.3030+146A= (n.3030+146A=) c.8219A= (p.Asp2740=) n.2148A= c.8348A= (p.Asp2783=) | |
2 | g.73490304A>C | CA347268364 | ALMS1 | c.7964A>C (p.Asp2655Ala) c.1356A>C c.5416A>C c.2411A>C (p.Asp804Ala) c.8345A>C (p.Asp2782Ala) c.896-29471A>C c.3030+146A>C (n.3030+146A>C) c.8219A>C (p.Asp2740Ala) n.2148A>C c.8348A>C (p.Asp2783Ala) | |
2 | g.73490304A>G | CA347268370 | ALMS1 | c.7964A>G (p.Asp2655Gly) c.1356A>G c.5416A>G c.2411A>G (p.Asp804Gly) c.8345A>G (p.Asp2782Gly) c.896-29471A>G c.3030+146A>G (n.3030+146A>G) c.8219A>G (p.Asp2740Gly) n.2148A>G c.8348A>G (p.Asp2783Gly) | ClinVar dbSNP gnomAD v4 |
2 | g.73490304A>T | CA347268366 | ALMS1 | c.7964A>T (p.Asp2655Val) c.1356A>T c.5416A>T c.2411A>T (p.Asp804Val) c.8345A>T (p.Asp2782Val) c.896-29471A>T c.3030+146A>T (n.3030+146A>T) c.8219A>T (p.Asp2740Val) n.2148A>T c.8348A>T (p.Asp2783Val) | gnomAD v4 |
2 | g.73490305T>A | CA347268372 | ALMS1 | c.7965T>A (p.Asp2655Glu) c.1357T>A c.5417T>A c.2412T>A (p.Asp804Glu) c.8346T>A (p.Asp2782Glu) c.896-29470T>A c.3030+147T>A (n.3030+147T>A) c.8220T>A (p.Asp2740Glu) n.2149T>A c.8349T>A (p.Asp2783Glu) | |
2 | g.73490305T>C | CA427001588 | ALMS1 | c.7965T>C (p.Asp2655=) c.1357T>C c.5417T>C c.2412T>C (p.Asp804=) c.8346T>C (p.Asp2782=) c.896-29470T>C c.3030+147T>C (n.3030+147T>C) c.8220T>C (p.Asp2740=) n.2149T>C c.8349T>C (p.Asp2783=) | |
2 | g.73490305T>G | CA347268375 | ALMS1 | c.7965T>G (p.Asp2655Glu) c.1357T>G c.5417T>G c.2412T>G (p.Asp804Glu) c.8346T>G (p.Asp2782Glu) c.896-29470T>G c.3030+147T>G (n.3030+147T>G) c.8220T>G (p.Asp2740Glu) n.2149T>G c.8349T>G (p.Asp2783Glu) | |
2 | g.73490305_73490309del | CA913090808 | ALMS1 | c.7965_7969del (p.Asp2655GlufsTer9) c.1357_1361del c.5417_5421del c.2412_2416del (p.Asp804GlufsTer9) c.8346_8350del (p.Asp2782GlufsTer9) c.896-29470_896-29466del c.3030+147_3030+151del (n.3030+147_3030+151del) c.8220_8224del (p.Asp2740GlufsTer9) n.2149_2153del c.8349_8353del (p.Asp2783GlufsTer9) | |
2 | g.73490305_73490309delinsTAAAG | CA1260981833 | ALMS1 | c.7965_7969delinsTAAAG (p.Asp2655=) c.1357_1361delinsTAAAG c.5417_5421delinsTAAAG c.2412_2416delinsTAAAG (p.Asp804=) c.8346_8350delinsTAAAG (p.Asp2782=) c.896-29470_896-29466delinsTAAAG c.3030+147_3030+151delinsTAAAG (n.3030+147_3030+151delinsTAAAG) c.8220_8224delinsTAAAG (p.Asp2740=) n.2149_2153delinsTAAAG c.8349_8353delinsTAAAG (p.Asp2783=) | |
2 | g.73490306A>C | CA347268376 | ALMS1 | c.7966A>C (p.Lys2656Gln) c.1358A>C c.5418A>C c.2413A>C (p.Lys805Gln) c.8347A>C (p.Lys2783Gln) c.896-29469A>C c.3030+148A>C (n.3030+148A>C) c.8221A>C (p.Lys2741Gln) n.2150A>C c.8350A>C (p.Lys2784Gln) | |
2 | g.73490306A>G | CA347268379 | ALMS1 | c.7966A>G (p.Lys2656Glu) c.1358A>G c.5418A>G c.2413A>G (p.Lys805Glu) c.8347A>G (p.Lys2783Glu) c.896-29469A>G c.3030+148A>G (n.3030+148A>G) c.8221A>G (p.Lys2741Glu) n.2150A>G c.8350A>G (p.Lys2784Glu) | |
2 | g.73490306A>T | CA347268381 | ALMS1 | c.7966A>T (p.Lys2656Ter) c.1358A>T c.5418A>T c.2413A>T (p.Lys805Ter) c.8347A>T (p.Lys2783Ter) c.896-29469A>T c.3030+148A>T (n.3030+148A>T) c.8221A>T (p.Lys2741Ter) n.2150A>T c.8350A>T (p.Lys2784Ter) | |
2 | g.73490308_73490311del | CA658821977 | ALMS1 | c.7968_7971del (p.Glu2657Ter) c.1360_1363del c.5420_5423del c.2415_2418del (p.Glu806Ter) c.8349_8352del (p.Glu2784Ter) c.896-29467_896-29464del c.3030+150_3030+153del (n.3030+150_3030+153del) c.8223_8226del (p.Glu2742Ter) n.2152_2155del c.8352_8355del (p.Glu2785Ter) | ClinVar dbSNP gnomAD v4 |
2 | g.73490307A>C | CA347268384 | ALMS1 | c.7967A>C (p.Lys2656Thr) c.1359A>C c.5419A>C c.2414A>C (p.Lys805Thr) c.8348A>C (p.Lys2783Thr) c.896-29468A>C c.3030+149A>C (n.3030+149A>C) c.8222A>C (p.Lys2741Thr) n.2151A>C c.8351A>C (p.Lys2784Thr) | |
2 | g.73490307A>G | CA347268386 | ALMS1 | c.7967A>G (p.Lys2656Arg) c.1359A>G c.5419A>G c.2414A>G (p.Lys805Arg) c.8348A>G (p.Lys2783Arg) c.896-29468A>G c.3030+149A>G (n.3030+149A>G) c.8222A>G (p.Lys2741Arg) n.2151A>G c.8351A>G (p.Lys2784Arg) | |
2 | g.73490307A>T | CA347268388 | ALMS1 | c.7967A>T (p.Lys2656Ile) c.1359A>T c.5419A>T c.2414A>T (p.Lys805Ile) c.8348A>T (p.Lys2783Ile) c.896-29468A>T c.3030+149A>T (n.3030+149A>T) c.8222A>T (p.Lys2741Ile) n.2151A>T c.8351A>T (p.Lys2784Ile) | |
2 | g.73490308A= | CA1260981839 | ALMS1 | c.7968A= (p.Lys2656=) c.1360A= c.5420A= c.2415A= (p.Lys805=) c.8349A= (p.Lys2783=) c.896-29467A= c.3030+150A= (n.3030+150A=) c.8223A= (p.Lys2741=) n.2152A= c.8352A= (p.Lys2784=) | |
2 | g.73490308A>C | CA347268391 | ALMS1 | c.7968A>C (p.Lys2656Asn) c.1360A>C c.5420A>C c.2415A>C (p.Lys805Asn) c.8349A>C (p.Lys2783Asn) c.896-29467A>C c.3030+150A>C (n.3030+150A>C) c.8223A>C (p.Lys2741Asn) n.2152A>C c.8352A>C (p.Lys2784Asn) | |
2 | g.73490308A>G | CA1714453 | ALMS1 | c.7968A>G (p.Lys2656=) c.1360A>G c.5420A>G c.2415A>G (p.Lys805=) c.8349A>G (p.Lys2783=) c.896-29467A>G c.3030+150A>G (n.3030+150A>G) c.8223A>G (p.Lys2741=) n.2152A>G c.8352A>G (p.Lys2784=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73490308A>T | CA347268395 | ALMS1 | c.7968A>T (p.Lys2656Asn) c.1360A>T c.5420A>T c.2415A>T (p.Lys805Asn) c.8349A>T (p.Lys2783Asn) c.896-29467A>T c.3030+150A>T (n.3030+150A>T) c.8223A>T (p.Lys2741Asn) n.2152A>T c.8352A>T (p.Lys2784Asn) | |
2 | g.73490309G>A | CA347268398 | ALMS1 | c.7969G>A (p.Glu2657Lys) c.1361G>A c.5421G>A c.2416G>A (p.Glu806Lys) c.8350G>A (p.Glu2784Lys) c.896-29466G>A c.3030+151G>A (n.3030+151G>A) c.8224G>A (p.Glu2742Lys) n.2153G>A c.8353G>A (p.Glu2785Lys) | |
2 | g.73490309G>C | CA347268402 | ALMS1 | c.7969G>C (p.Glu2657Gln) c.1361G>C c.5421G>C c.2416G>C (p.Glu806Gln) c.8350G>C (p.Glu2784Gln) c.896-29466G>C c.3030+151G>C (n.3030+151G>C) c.8224G>C (p.Glu2742Gln) n.2153G>C c.8353G>C (p.Glu2785Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.73490309G= | CA1260981843 | ALMS1 | c.7969G= (p.Glu2657=) c.1361G= c.5421G= c.2416G= (p.Glu806=) c.8350G= (p.Glu2784=) c.896-29466G= c.3030+151G= (n.3030+151G=) c.8224G= (p.Glu2742=) n.2153G= c.8353G= (p.Glu2785=) | |
2 | g.73490309G>T | CA347268400 | ALMS1 | c.7969G>T (p.Glu2657Ter) c.1361G>T c.5421G>T c.2416G>T (p.Glu806Ter) c.8350G>T (p.Glu2784Ter) c.896-29466G>T c.3030+151G>T (n.3030+151G>T) c.8224G>T (p.Glu2742Ter) n.2153G>T c.8353G>T (p.Glu2785Ter) | dbSNP |
2 | g.73490310A= | CA1260981845 | ALMS1 | c.7970A= (p.Glu2657=) c.1362A= c.5422A= c.2417A= (p.Glu806=) c.8351A= (p.Glu2784=) c.896-29465A= c.3030+152A= (n.3030+152A=) c.8225A= (p.Glu2742=) n.2154A= c.8354A= (p.Glu2785=) | |
2 | g.73490310A>C | CA347268404 | ALMS1 | c.7970A>C (p.Glu2657Ala) c.1362A>C c.5422A>C c.2417A>C (p.Glu806Ala) c.8351A>C (p.Glu2784Ala) c.896-29465A>C c.3030+152A>C (n.3030+152A>C) c.8225A>C (p.Glu2742Ala) n.2154A>C c.8354A>C (p.Glu2785Ala) | |
2 | g.73490310A>G | CA347268408 | ALMS1 | c.7970A>G (p.Glu2657Gly) c.1362A>G c.5422A>G c.2417A>G (p.Glu806Gly) c.8351A>G (p.Glu2784Gly) c.896-29465A>G c.3030+152A>G (n.3030+152A>G) c.8225A>G (p.Glu2742Gly) n.2154A>G c.8354A>G (p.Glu2785Gly) | |
2 | g.73490310A>T | CA347268405 | ALMS1 | c.7970A>T (p.Glu2657Val) c.1362A>T c.5422A>T c.2417A>T (p.Glu806Val) c.8351A>T (p.Glu2784Val) c.896-29465A>T c.3030+152A>T (n.3030+152A>T) c.8225A>T (p.Glu2742Val) n.2154A>T c.8354A>T (p.Glu2785Val) | dbSNP |
2 | g.73490311A= | CA1260981847 | ALMS1 | c.7971A= (p.Glu2657=) c.1363A= c.5423A= c.2418A= (p.Glu806=) c.8352A= (p.Glu2784=) c.896-29464A= c.3030+153A= (n.3030+153A=) c.8226A= (p.Glu2742=) n.2155A= c.8355A= (p.Glu2785=) | |
2 | g.73490311A>C | CA347268410 | ALMS1 | c.7971A>C (p.Glu2657Asp) c.1363A>C c.5423A>C c.2418A>C (p.Glu806Asp) c.8352A>C (p.Glu2784Asp) c.896-29464A>C c.3030+153A>C (n.3030+153A>C) c.8226A>C (p.Glu2742Asp) n.2155A>C c.8355A>C (p.Glu2785Asp) | |
2 | g.73490311A>G | CA1714454 | ALMS1 | c.7971A>G (p.Glu2657=) c.1363A>G c.5423A>G c.2418A>G (p.Glu806=) c.8352A>G (p.Glu2784=) c.896-29464A>G c.3030+153A>G (n.3030+153A>G) c.8226A>G (p.Glu2742=) n.2155A>G c.8355A>G (p.Glu2785=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73490311A>T | CA347268413 | ALMS1 | c.7971A>T (p.Glu2657Asp) c.1363A>T c.5423A>T c.2418A>T (p.Glu806Asp) c.8352A>T (p.Glu2784Asp) c.896-29464A>T c.3030+153A>T (n.3030+153A>T) c.8226A>T (p.Glu2742Asp) n.2155A>T c.8355A>T (p.Glu2785Asp) | |
2 | g.73490312G>A | CA347268417 | ALMS1 | c.7972G>A (p.Val2658Met) c.1364G>A c.5424G>A c.2419G>A (p.Val807Met) c.8353G>A (p.Val2785Met) c.896-29463G>A c.3030+154G>A (n.3030+154G>A) c.8227G>A (p.Val2743Met) n.2156G>A c.8356G>A (p.Val2786Met) | gnomAD v4 |
2 | g.73490312G>C | CA347268420 | ALMS1 | c.7972G>C (p.Val2658Leu) c.1364G>C c.5424G>C c.2419G>C (p.Val807Leu) c.8353G>C (p.Val2785Leu) c.896-29463G>C c.3030+154G>C (n.3030+154G>C) c.8227G>C (p.Val2743Leu) n.2156G>C c.8356G>C (p.Val2786Leu) | |
2 | g.73490312G>T | CA347268422 | ALMS1 | c.7972G>T (p.Val2658Leu) c.1364G>T c.5424G>T c.2419G>T (p.Val807Leu) c.8353G>T (p.Val2785Leu) c.896-29463G>T c.3030+154G>T (n.3030+154G>T) c.8227G>T (p.Val2743Leu) n.2156G>T c.8356G>T (p.Val2786Leu) | |
2 | g.73490313T>A | CA347268425 | ALMS1 | c.7973T>A (p.Val2658Glu) c.1365T>A c.5425T>A c.2420T>A (p.Val807Glu) c.8354T>A (p.Val2785Glu) c.896-29462T>A c.3030+155T>A (n.3030+155T>A) c.8228T>A (p.Val2743Glu) n.2157T>A c.8357T>A (p.Val2786Glu) | |
2 | g.73490313T>C | CA347268426 | ALMS1 | c.7973T>C (p.Val2658Ala) c.1365T>C c.5425T>C c.2420T>C (p.Val807Ala) c.8354T>C (p.Val2785Ala) c.896-29462T>C c.3030+155T>C (n.3030+155T>C) c.8228T>C (p.Val2743Ala) n.2157T>C c.8357T>C (p.Val2786Ala) | |
2 | g.73490313T>G | CA347268429 | ALMS1 | c.7973T>G (p.Val2658Gly) c.1365T>G c.5425T>G c.2420T>G (p.Val807Gly) c.8354T>G (p.Val2785Gly) c.896-29462T>G c.3030+155T>G (n.3030+155T>G) c.8228T>G (p.Val2743Gly) n.2157T>G c.8357T>G (p.Val2786Gly) | |
2 | g.73490314G>A | CA427013750 | ALMS1 | c.7974G>A (p.Val2658=) c.1366G>A c.5426G>A c.2421G>A (p.Val807=) c.8355G>A (p.Val2785=) c.896-29461G>A c.3030+156G>A (n.3030+156G>A) c.8229G>A (p.Val2743=) n.2158G>A c.8358G>A (p.Val2786=) | |
2 | g.73490314G>C | CA427013753 | ALMS1 | c.7974G>C (p.Val2658=) c.1366G>C c.5426G>C c.2421G>C (p.Val807=) c.8355G>C (p.Val2785=) c.896-29461G>C c.3030+156G>C (n.3030+156G>C) c.8229G>C (p.Val2743=) n.2158G>C c.8358G>C (p.Val2786=) | |
2 | g.73490314G>T | CA427013754 | ALMS1 | c.7974G>T (p.Val2658=) c.1366G>T c.5426G>T c.2421G>T (p.Val807=) c.8355G>T (p.Val2785=) c.896-29461G>T c.3030+156G>T (n.3030+156G>T) c.8229G>T (p.Val2743=) n.2158G>T c.8358G>T (p.Val2786=) | |
2 | g.73490315A>C | CA347268432 | ALMS1 | c.7975A>C (p.Thr2659Pro) c.1367A>C c.5427A>C c.2422A>C (p.Thr808Pro) c.8356A>C (p.Thr2786Pro) c.896-29460A>C c.3030+157A>C (n.3030+157A>C) c.8230A>C (p.Thr2744Pro) n.2159A>C c.8359A>C (p.Thr2787Pro) | |
2 | g.73490315A>G | CA347268433 | ALMS1 | c.7975A>G (p.Thr2659Ala) c.1367A>G c.5427A>G c.2422A>G (p.Thr808Ala) c.8356A>G (p.Thr2786Ala) c.896-29460A>G c.3030+157A>G (n.3030+157A>G) c.8230A>G (p.Thr2744Ala) n.2159A>G c.8359A>G (p.Thr2787Ala) | |
2 | g.73490315A>T | CA347268436 | ALMS1 | c.7975A>T (p.Thr2659Ser) c.1367A>T c.5427A>T c.2422A>T (p.Thr808Ser) c.8356A>T (p.Thr2786Ser) c.896-29460A>T c.3030+157A>T (n.3030+157A>T) c.8230A>T (p.Thr2744Ser) n.2159A>T c.8359A>T (p.Thr2787Ser) | |
2 | g.73490316C>A | CA347268439 | ALMS1 | c.7976C>A (p.Thr2659Asn) c.1368C>A c.5428C>A c.2423C>A (p.Thr808Asn) c.8357C>A (p.Thr2786Asn) c.896-29459C>A c.3030+158C>A (n.3030+158C>A) c.8231C>A (p.Thr2744Asn) n.2160C>A c.8360C>A (p.Thr2787Asn) | |
2 | g.73490316C= | CA1260981850 | ALMS1 | c.7976C= (p.Thr2659=) c.1368C= c.5428C= c.2423C= (p.Thr808=) c.8357C= (p.Thr2786=) c.896-29459C= c.3030+158C= (n.3030+158C=) c.8231C= (p.Thr2744=) n.2160C= c.8360C= (p.Thr2787=) | |
2 | g.73490316C>G | CA1714455 | ALMS1 | c.7976C>G (p.Thr2659Ser) c.1368C>G c.5428C>G c.2423C>G (p.Thr808Ser) c.8357C>G (p.Thr2786Ser) c.896-29459C>G c.3030+158C>G (n.3030+158C>G) c.8231C>G (p.Thr2744Ser) n.2160C>G c.8360C>G (p.Thr2787Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73490316C>T | CA347268442 | ALMS1 | c.7976C>T (p.Thr2659Ile) c.1368C>T c.5428C>T c.2423C>T (p.Thr808Ile) c.8357C>T (p.Thr2786Ile) c.896-29459C>T c.3030+158C>T (n.3030+158C>T) c.8231C>T (p.Thr2744Ile) n.2160C>T c.8360C>T (p.Thr2787Ile) | gnomAD v4 |
2 | g.73490316_73490322del | CA913090809 | ALMS1 | c.7976_7982del (p.Thr2659LysfsTer25) c.1368_1374del c.5428_5434del c.2423_2429del (p.Thr808LysfsTer25) c.8357_8363del (p.Thr2786LysfsTer25) c.896-29459_896-29453del c.3030+158_3030+164del (n.3030+158_3030+164del) c.8231_8237del (p.Thr2744LysfsTer25) n.2160_2166del c.8360_8366del (p.Thr2787LysfsTer25) | |
2 | g.73490316_73490322delinsCTATTTT | CA1260981852 | ALMS1 | c.7976_7982delinsCTATTTT (p.Thr2659=) c.1368_1374delinsCTATTTT c.5428_5434delinsCTATTTT c.2423_2429delinsCTATTTT (p.Thr808=) c.8357_8363delinsCTATTTT (p.Thr2786=) c.896-29459_896-29453delinsCTATTTT c.3030+158_3030+164delinsCTATTTT (n.3030+158_3030+164delinsCTATTTT) c.8231_8237delinsCTATTTT (p.Thr2744=) n.2160_2166delinsCTATTTT c.8360_8366delinsCTATTTT (p.Thr2787=) | |
2 | g.73490317T>A | CA427013768 | ALMS1 | c.7977T>A (p.Thr2659=) c.1369T>A c.5429T>A c.2424T>A (p.Thr808=) c.8358T>A (p.Thr2786=) c.896-29458T>A c.3030+159T>A (n.3030+159T>A) c.8232T>A (p.Thr2744=) n.2161T>A c.8361T>A (p.Thr2787=) | |
2 | g.73490317T>C | CA427013770 | ALMS1 | c.7977T>C (p.Thr2659=) c.1369T>C c.5429T>C c.2424T>C (p.Thr808=) c.8358T>C (p.Thr2786=) c.896-29458T>C c.3030+159T>C (n.3030+159T>C) c.8232T>C (p.Thr2744=) n.2161T>C c.8361T>C (p.Thr2787=) | |
2 | g.73490317T>G | CA427013772 | ALMS1 | c.7977T>G (p.Thr2659=) c.1369T>G c.5429T>G c.2424T>G (p.Thr808=) c.8358T>G (p.Thr2786=) c.896-29458T>G c.3030+159T>G (n.3030+159T>G) c.8232T>G (p.Thr2744=) n.2161T>G c.8361T>G (p.Thr2787=) | ClinVar dbSNP gnomAD v4 |
2 | g.73490317dup | CA2580068255 | ALMS1 | c.7977dup (p.Ile2660TyrfsTer6) c.1369dup c.5429dup c.2424dup (p.Ile809TyrfsTer6) c.8358dup (p.Ile2787TyrfsTer6) c.896-29458dup c.3030+159dup (n.3030+159dup) c.8232dup (p.Ile2745TyrfsTer6) n.2161dup c.8361dup (p.Ile2788TyrfsTer6) | ClinVar |
2 | g.73490317_73490322del | CA658821978 | ALMS1 | c.7977_7982del (p.Ile2660_Leu2661del) c.1369_1374del c.5429_5434del c.2424_2429del (p.Ile809_Leu810del) c.8358_8363del (p.Ile2787_Leu2788del) c.896-29458_896-29453del c.3030+159_3030+164del (n.3030+159_3030+164del) c.8232_8237del (p.Ile2745_Leu2746del) n.2161_2166del c.8361_8366del (p.Ile2788_Leu2789del) | ClinVar dbSNP |
2 | g.73490318A= | CA1260981886 | ALMS1 | c.7978A= (p.Ile2660=) c.1370A= c.5430A= c.2425A= (p.Ile809=) c.8359A= (p.Ile2787=) c.896-29457A= c.3030+160A= (n.3030+160A=) c.8233A= (p.Ile2745=) n.2162A= c.8362A= (p.Ile2788=) | |
2 | g.73490318A>C | CA347268447 | ALMS1 | c.7978A>C (p.Ile2660Leu) c.1370A>C c.5430A>C c.2425A>C (p.Ile809Leu) c.8359A>C (p.Ile2787Leu) c.896-29457A>C c.3030+160A>C (n.3030+160A>C) c.8233A>C (p.Ile2745Leu) n.2162A>C c.8362A>C (p.Ile2788Leu) | |
2 | g.73490318A>G | CA1714456 | ALMS1 | c.7978A>G (p.Ile2660Val) c.1370A>G c.5430A>G c.2425A>G (p.Ile809Val) c.8359A>G (p.Ile2787Val) c.896-29457A>G c.3030+160A>G (n.3030+160A>G) c.8233A>G (p.Ile2745Val) n.2162A>G c.8362A>G (p.Ile2788Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73490318A>T | CA347268450 | ALMS1 | c.7978A>T (p.Ile2660Phe) c.1370A>T c.5430A>T c.2425A>T (p.Ile809Phe) c.8359A>T (p.Ile2787Phe) c.896-29457A>T c.3030+160A>T (n.3030+160A>T) c.8233A>T (p.Ile2745Phe) n.2162A>T c.8362A>T (p.Ile2788Phe) | dbSNP gnomAD v4 |
2 | g.73490319T>A | CA347268453 | ALMS1 | c.7979T>A (p.Ile2660Asn) c.1371T>A c.5431T>A c.2426T>A (p.Ile809Asn) c.8360T>A (p.Ile2787Asn) c.896-29456T>A c.3030+161T>A (n.3030+161T>A) c.8234T>A (p.Ile2745Asn) n.2163T>A c.8363T>A (p.Ile2788Asn) | |
2 | g.73490319T>C | CA347268454 | ALMS1 | c.7979T>C (p.Ile2660Thr) c.1371T>C c.5431T>C c.2426T>C (p.Ile809Thr) c.8360T>C (p.Ile2787Thr) c.896-29456T>C c.3030+161T>C (n.3030+161T>C) c.8234T>C (p.Ile2745Thr) n.2163T>C c.8363T>C (p.Ile2788Thr) | |
2 | g.73490319T>G | CA347268455 | ALMS1 | c.7979T>G (p.Ile2660Ser) c.1371T>G c.5431T>G c.2426T>G (p.Ile809Ser) c.8360T>G (p.Ile2787Ser) c.896-29456T>G c.3030+161T>G (n.3030+161T>G) c.8234T>G (p.Ile2745Ser) n.2163T>G c.8363T>G (p.Ile2788Ser) | |
2 | g.73490322del | CA2586969435 | ALMS1 | c.7982del (p.Leu2661Ter) c.1374del c.5434del c.2429del (p.Leu810Ter) c.8363del (p.Leu2788Ter) c.896-29453del c.3030+164del (n.3030+164del) c.8237del (p.Leu2746Ter) n.2166del c.8366del (p.Leu2789Ter) | |
2 | g.73490320T>A | CA427013791 | ALMS1 | c.7980T>A (p.Ile2660=) c.1372T>A c.5432T>A c.2427T>A (p.Ile809=) c.8361T>A (p.Ile2787=) c.896-29455T>A c.3030+162T>A (n.3030+162T>A) c.8235T>A (p.Ile2745=) n.2164T>A c.8364T>A (p.Ile2788=) | |
2 | g.73490320T>C | CA427013787 | ALMS1 | c.7980T>C (p.Ile2660=) c.1372T>C c.5432T>C c.2427T>C (p.Ile809=) c.8361T>C (p.Ile2787=) c.896-29455T>C c.3030+162T>C (n.3030+162T>C) c.8235T>C (p.Ile2745=) n.2164T>C c.8364T>C (p.Ile2788=) | |
2 | g.73490320T>G | CA347268460 | ALMS1 | c.7980T>G (p.Ile2660Met) c.1372T>G c.5432T>G c.2427T>G (p.Ile809Met) c.8361T>G (p.Ile2787Met) c.896-29455T>G c.3030+162T>G (n.3030+162T>G) c.8235T>G (p.Ile2745Met) n.2164T>G c.8364T>G (p.Ile2788Met) | |
2 | g.73490321T>A | CA347268462 | ALMS1 | c.7981T>A (p.Leu2661Ile) c.1373T>A c.5433T>A c.2428T>A (p.Leu810Ile) c.8362T>A (p.Leu2788Ile) c.896-29454T>A c.3030+163T>A (n.3030+163T>A) c.8236T>A (p.Leu2746Ile) n.2165T>A c.8365T>A (p.Leu2789Ile) | |
2 | g.73490321T>C | CA427013796 | ALMS1 | c.7981T>C (p.Leu2661=) c.1373T>C c.5433T>C c.2428T>C (p.Leu810=) c.8362T>C (p.Leu2788=) c.896-29454T>C c.3030+163T>C (n.3030+163T>C) c.8236T>C (p.Leu2746=) n.2165T>C c.8365T>C (p.Leu2789=) | |
2 | g.73490321T>G | CA347268469 | ALMS1 | c.7981T>G (p.Leu2661Val) c.1373T>G c.5433T>G c.2428T>G (p.Leu810Val) c.8362T>G (p.Leu2788Val) c.896-29454T>G c.3030+163T>G (n.3030+163T>G) c.8236T>G (p.Leu2746Val) n.2165T>G c.8365T>G (p.Leu2789Val) | |
2 | g.73490322T>A | CA347268475 | ALMS1 | c.7982T>A (p.Leu2661Ter) c.1374T>A c.5434T>A c.2429T>A (p.Leu810Ter) c.8363T>A (p.Leu2788Ter) c.896-29453T>A c.3030+164T>A (n.3030+164T>A) c.8237T>A (p.Leu2746Ter) n.2166T>A c.8366T>A (p.Leu2789Ter) | |
2 | g.73490322T>C | CA347268476 | ALMS1 | c.7982T>C (p.Leu2661Ser) c.1374T>C c.5434T>C c.2429T>C (p.Leu810Ser) c.8363T>C (p.Leu2788Ser) c.896-29453T>C c.3030+164T>C (n.3030+164T>C) c.8237T>C (p.Leu2746Ser) n.2166T>C c.8366T>C (p.Leu2789Ser) | dbSNP |
2 | g.73490322T>G | CA347268473 | ALMS1 | c.7982T>G (p.Leu2661Ter) c.1374T>G c.5434T>G c.2429T>G (p.Leu810Ter) c.8363T>G (p.Leu2788Ter) c.896-29453T>G c.3030+164T>G (n.3030+164T>G) c.8237T>G (p.Leu2746Ter) n.2166T>G c.8366T>G (p.Leu2789Ter) | |
2 | g.73490323A= | CA1260981893 | ALMS1 | c.7983A= (p.Leu2661=) c.1375A= c.5435A= c.2430A= (p.Leu810=) c.8364A= (p.Leu2788=) c.896-29452A= c.3030+165A= (n.3030+165A=) c.8238A= (p.Leu2746=) n.2167A= c.8367A= (p.Leu2789=) | |
2 | g.73490323A>C | CA347268480 | ALMS1 | c.7983A>C (p.Leu2661Phe) c.1375A>C c.5435A>C c.2430A>C (p.Leu810Phe) c.8364A>C (p.Leu2788Phe) c.896-29452A>C c.3030+165A>C (n.3030+165A>C) c.8238A>C (p.Leu2746Phe) n.2167A>C c.8367A>C (p.Leu2789Phe) | |
2 | g.73490323A>G | CA50378473 | ALMS1 | c.7983A>G (p.Leu2661=) c.1375A>G c.5435A>G c.2430A>G (p.Leu810=) c.8364A>G (p.Leu2788=) c.896-29452A>G c.3030+165A>G (n.3030+165A>G) c.8238A>G (p.Leu2746=) n.2167A>G c.8367A>G (p.Leu2789=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73490323A>T | CA347268489 | ALMS1 | c.7983A>T (p.Leu2661Phe) c.1375A>T c.5435A>T c.2430A>T (p.Leu810Phe) c.8364A>T (p.Leu2788Phe) c.896-29452A>T c.3030+165A>T (n.3030+165A>T) c.8238A>T (p.Leu2746Phe) n.2167A>T c.8367A>T (p.Leu2789Phe) | |
2 | g.73490324G>A | CA347268491 | ALMS1 | c.7984G>A (p.Ala2662Thr) c.1376G>A c.5436G>A c.2431G>A (p.Ala811Thr) c.8365G>A (p.Ala2789Thr) c.896-29451G>A c.3030+166G>A (n.3030+166G>A) c.8239G>A (p.Ala2747Thr) n.2168G>A c.8368G>A (p.Ala2790Thr) | |
2 | g.73490324G>C | CA347268492 | ALMS1 | c.7984G>C (p.Ala2662Pro) c.1376G>C c.5436G>C c.2431G>C (p.Ala811Pro) c.8365G>C (p.Ala2789Pro) c.896-29451G>C c.3030+166G>C (n.3030+166G>C) c.8239G>C (p.Ala2747Pro) n.2168G>C c.8368G>C (p.Ala2790Pro) | |
2 | g.73490324G>T | CA347268493 | ALMS1 | c.7984G>T (p.Ala2662Ser) c.1376G>T c.5436G>T c.2431G>T (p.Ala811Ser) c.8365G>T (p.Ala2789Ser) c.896-29451G>T c.3030+166G>T (n.3030+166G>T) c.8239G>T (p.Ala2747Ser) n.2168G>T c.8368G>T (p.Ala2790Ser) | |
2 | g.73490325C>A | CA347268494 | ALMS1 | c.7985C>A (p.Ala2662Glu) c.1377C>A c.5437C>A c.2432C>A (p.Ala811Glu) c.8366C>A (p.Ala2789Glu) c.896-29450C>A c.3030+167C>A (n.3030+167C>A) c.8240C>A (p.Ala2747Glu) n.2169C>A c.8369C>A (p.Ala2790Glu) | |
2 | g.73490325C= | CA1260981895 | ALMS1 | c.7985C= (p.Ala2662=) c.1377C= c.5437C= c.2432C= (p.Ala811=) c.8366C= (p.Ala2789=) c.896-29450C= c.3030+167C= (n.3030+167C=) c.8240C= (p.Ala2747=) n.2169C= c.8369C= (p.Ala2790=) | |
2 | g.73490325C>G | CA347268496 | ALMS1 | c.7985C>G (p.Ala2662Gly) c.1377C>G c.5437C>G c.2432C>G (p.Ala811Gly) c.8366C>G (p.Ala2789Gly) c.896-29450C>G c.3030+167C>G (n.3030+167C>G) c.8240C>G (p.Ala2747Gly) n.2169C>G c.8369C>G (p.Ala2790Gly) | |
2 | g.73490325C>T | CA347268498 | ALMS1 | c.7985C>T (p.Ala2662Val) c.1377C>T c.5437C>T c.2432C>T (p.Ala811Val) c.8366C>T (p.Ala2789Val) c.896-29450C>T c.3030+167C>T (n.3030+167C>T) c.8240C>T (p.Ala2747Val) n.2169C>T c.8369C>T (p.Ala2790Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73490326A>C | CA427013825 | ALMS1 | c.7986A>C (p.Ala2662=) c.1378A>C c.5438A>C c.2433A>C (p.Ala811=) c.8367A>C (p.Ala2789=) c.896-29449A>C c.3030+168A>C (n.3030+168A>C) c.8241A>C (p.Ala2747=) n.2170A>C c.8370A>C (p.Ala2790=) | |
2 | g.73490326A>G | CA427013827 | ALMS1 | c.7986A>G (p.Ala2662=) c.1378A>G c.5438A>G c.2433A>G (p.Ala811=) c.8367A>G (p.Ala2789=) c.896-29449A>G c.3030+168A>G (n.3030+168A>G) c.8241A>G (p.Ala2747=) n.2170A>G c.8370A>G (p.Ala2790=) | |
2 | g.73490326A>T | CA427013829 | ALMS1 | c.7986A>T (p.Ala2662=) c.1378A>T c.5438A>T c.2433A>T (p.Ala811=) c.8367A>T (p.Ala2789=) c.896-29449A>T c.3030+168A>T (n.3030+168A>T) c.8241A>T (p.Ala2747=) n.2170A>T c.8370A>T (p.Ala2790=) | |
2 | g.73490327G>A | CA347268501 | ALMS1 | c.7987G>A (p.Glu2663Lys) c.1379G>A c.5439G>A c.2434G>A (p.Glu812Lys) c.8368G>A (p.Glu2790Lys) c.896-29448G>A c.3030+169G>A (n.3030+169G>A) c.8242G>A (p.Glu2748Lys) n.2171G>A c.8371G>A (p.Glu2791Lys) | |
2 | g.73490327G>C | CA347268503 | ALMS1 | c.7987G>C (p.Glu2663Gln) c.1379G>C c.5439G>C c.2434G>C (p.Glu812Gln) c.8368G>C (p.Glu2790Gln) c.896-29448G>C c.3030+169G>C (n.3030+169G>C) c.8242G>C (p.Glu2748Gln) n.2171G>C c.8371G>C (p.Glu2791Gln) | |
2 | g.73490327G>T | CA347268505 | ALMS1 | c.7987G>T (p.Glu2663Ter) c.1379G>T c.5439G>T c.2434G>T (p.Glu812Ter) c.8368G>T (p.Glu2790Ter) c.896-29448G>T c.3030+169G>T (n.3030+169G>T) c.8242G>T (p.Glu2748Ter) n.2171G>T c.8371G>T (p.Glu2791Ter) | |
2 | g.73490328A>C | CA347268511 | ALMS1 | c.7988A>C (p.Glu2663Ala) c.1380A>C c.5440A>C c.2435A>C (p.Glu812Ala) c.8369A>C (p.Glu2790Ala) c.896-29447A>C c.3030+170A>C (n.3030+170A>C) c.8243A>C (p.Glu2748Ala) n.2172A>C c.8372A>C (p.Glu2791Ala) | gnomAD v4 |
2 | g.73490328A>G | CA347268513 | ALMS1 | c.7988A>G (p.Glu2663Gly) c.1380A>G c.5440A>G c.2435A>G (p.Glu812Gly) c.8369A>G (p.Glu2790Gly) c.896-29447A>G c.3030+170A>G (n.3030+170A>G) c.8243A>G (p.Glu2748Gly) n.2172A>G c.8372A>G (p.Glu2791Gly) | |
2 | g.73490328A>T | CA347268508 | ALMS1 | c.7988A>T (p.Glu2663Val) c.1380A>T c.5440A>T c.2435A>T (p.Glu812Val) c.8369A>T (p.Glu2790Val) c.896-29447A>T c.3030+170A>T (n.3030+170A>T) c.8243A>T (p.Glu2748Val) n.2172A>T c.8372A>T (p.Glu2791Val) | |
2 | g.73490329A>C | CA347268516 | ALMS1 | c.7989A>C (p.Glu2663Asp) c.1381A>C c.5441A>C c.2436A>C (p.Glu812Asp) c.8370A>C (p.Glu2790Asp) c.896-29446A>C c.3030+171A>C (n.3030+171A>C) c.8244A>C (p.Glu2748Asp) n.2173A>C c.8373A>C (p.Glu2791Asp) | gnomAD v4 |
2 | g.73490329A>G | CA427013845 | ALMS1 | c.7989A>G (p.Glu2663=) c.1381A>G c.5441A>G c.2436A>G (p.Glu812=) c.8370A>G (p.Glu2790=) c.896-29446A>G c.3030+171A>G (n.3030+171A>G) c.8244A>G (p.Glu2748=) n.2173A>G c.8373A>G (p.Glu2791=) | gnomAD v4 |
2 | g.73490329A>T | CA347268518 | ALMS1 | c.7989A>T (p.Glu2663Asp) c.1381A>T c.5441A>T c.2436A>T (p.Glu812Asp) c.8370A>T (p.Glu2790Asp) c.896-29446A>T c.3030+171A>T (n.3030+171A>T) c.8244A>T (p.Glu2748Asp) n.2173A>T c.8373A>T (p.Glu2791Asp) | |
2 | g.73490330G>A | CA347268521 | ALMS1 | c.7990G>A (p.Gly2664Ser) c.1382G>A c.5442G>A c.2437G>A (p.Gly813Ser) c.8371G>A (p.Gly2791Ser) c.896-29445G>A c.3030+172G>A (n.3030+172G>A) c.8245G>A (p.Gly2749Ser) n.2174G>A c.8374G>A (p.Gly2792Ser) | |
2 | g.73490330G>C | CA347268522 | ALMS1 | c.7990G>C (p.Gly2664Arg) c.1382G>C c.5442G>C c.2437G>C (p.Gly813Arg) c.8371G>C (p.Gly2791Arg) c.896-29445G>C c.3030+172G>C (n.3030+172G>C) c.8245G>C (p.Gly2749Arg) n.2174G>C c.8374G>C (p.Gly2792Arg) | gnomAD v4 |
2 | g.73490330G>T | CA347268526 | ALMS1 | c.7990G>T (p.Gly2664Cys) c.1382G>T c.5442G>T c.2437G>T (p.Gly813Cys) c.8371G>T (p.Gly2791Cys) c.896-29445G>T c.3030+172G>T (n.3030+172G>T) c.8245G>T (p.Gly2749Cys) n.2174G>T c.8374G>T (p.Gly2792Cys) | |
2 | g.73490331del | CA2586969436 | ALMS1 | c.7991del (p.Gly2664ValfsTer22) c.1383del c.5443del c.2438del (p.Gly813ValfsTer22) c.8372del (p.Gly2791ValfsTer22) c.896-29444del c.3030+173del (n.3030+173del) c.8246del (p.Gly2749ValfsTer22) n.2175del c.8375del (p.Gly2792ValfsTer22) | |
2 | g.73490331G>A | CA347268534 | ALMS1 | c.7991G>A (p.Gly2664Asp) c.1383G>A c.5443G>A c.2438G>A (p.Gly813Asp) c.8372G>A (p.Gly2791Asp) c.896-29444G>A c.3030+173G>A (n.3030+173G>A) c.8246G>A (p.Gly2749Asp) n.2175G>A c.8375G>A (p.Gly2792Asp) | dbSNP gnomAD v4 |
2 | g.73490331G>C | CA347268529 | ALMS1 | c.7991G>C (p.Gly2664Ala) c.1383G>C c.5443G>C c.2438G>C (p.Gly813Ala) c.8372G>C (p.Gly2791Ala) c.896-29444G>C c.3030+173G>C (n.3030+173G>C) c.8246G>C (p.Gly2749Ala) n.2175G>C c.8375G>C (p.Gly2792Ala) | |
2 | g.73490331G= | CA1260981898 | ALMS1 | c.7991G= (p.Gly2664=) c.1383G= c.5443G= c.2438G= (p.Gly813=) c.8372G= (p.Gly2791=) c.896-29444G= c.3030+173G= (n.3030+173G=) c.8246G= (p.Gly2749=) n.2175G= c.8375G= (p.Gly2792=) | |
2 | g.73490331G>T | CA347268532 | ALMS1 | c.7991G>T (p.Gly2664Val) c.1383G>T c.5443G>T c.2438G>T (p.Gly813Val) c.8372G>T (p.Gly2791Val) c.896-29444G>T c.3030+173G>T (n.3030+173G>T) c.8246G>T (p.Gly2749Val) n.2175G>T c.8375G>T (p.Gly2792Val) | |
2 | g.73490331_73490332insACA | CA2750465618 | ALMS1 | c.7991_7992insACA (p.Gly2664_Arg2665insHis) c.1383_1384insACA c.5443_5444insACA c.2438_2439insACA (p.Gly813_Arg814insHis) c.8372_8373insACA (p.Gly2791_Arg2792insHis) c.896-29444_896-29443insACA c.3030+173_3030+174insACA (n.3030+173_3030+174insACA) c.8246_8247insACA (p.Gly2749_Arg2750insHis) n.2175_2176insACA c.8375_8376insACA (p.Gly2792_Arg2793insHis) | |
2 | g.73490332T>A | CA427013856 | ALMS1 | c.7992T>A (p.Gly2664=) c.1384T>A c.5444T>A c.2439T>A (p.Gly813=) c.8373T>A (p.Gly2791=) c.896-29443T>A c.3030+174T>A (n.3030+174T>A) c.8247T>A (p.Gly2749=) n.2176T>A c.8376T>A (p.Gly2792=) | |
2 | g.73490332T>C | CA427013857 | ALMS1 | c.7992T>C (p.Gly2664=) c.1384T>C c.5444T>C c.2439T>C (p.Gly813=) c.8373T>C (p.Gly2791=) c.896-29443T>C c.3030+174T>C (n.3030+174T>C) c.8247T>C (p.Gly2749=) n.2176T>C c.8376T>C (p.Gly2792=) | |
2 | g.73490332T>G | CA427013858 | ALMS1 | c.7992T>G (p.Gly2664=) c.1384T>G c.5444T>G c.2439T>G (p.Gly813=) c.8373T>G (p.Gly2791=) c.896-29443T>G c.3030+174T>G (n.3030+174T>G) c.8247T>G (p.Gly2749=) n.2176T>G c.8376T>G (p.Gly2792=) | |
2 | g.73490332_73490333delinsTA | CA1260981900 | ALMS1 | c.7992_7993delinsTA (p.Gly2664=) c.1384_1385delinsTA c.5444_5445delinsTA c.2439_2440delinsTA (p.Gly813=) c.8373_8374delinsTA (p.Gly2791=) c.896-29443_896-29442delinsTA c.3030+174_3030+175delinsTA (n.3030+174_3030+175delinsTA) c.8247_8248delinsTA (p.Gly2749=) n.2176_2177delinsTA c.8376_8377delinsTA (p.Gly2792=) | |
2 | g.73490333del | CA892866408 | ALMS1 | c.7993del (p.Arg2665GlufsTer21) c.1385del c.5445del c.2440del (p.Arg814GlufsTer21) c.8374del (p.Arg2792GlufsTer21) c.896-29442del c.3030+175del (n.3030+175del) c.8248del (p.Arg2750GlufsTer21) n.2177del c.8377del (p.Arg2793GlufsTer21) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.73490333A= | CA1260981905 | ALMS1 | c.7993A= (p.Arg2665=) c.1385A= c.5445A= c.2440A= (p.Arg814=) c.8374A= (p.Arg2792=) c.896-29442A= c.3030+175A= (n.3030+175A=) c.8248A= (p.Arg2750=) n.2177A= c.8377A= (p.Arg2793=) | |
2 | g.73490333A>C | CA427013860 | ALMS1 | c.7993A>C (p.Arg2665=) c.1385A>C c.5445A>C c.2440A>C (p.Arg814=) c.8374A>C (p.Arg2792=) c.896-29442A>C c.3030+175A>C (n.3030+175A>C) c.8248A>C (p.Arg2750=) n.2177A>C c.8377A>C (p.Arg2793=) | dbSNP gnomAD v4 |
2 | g.73490333A>G | CA347268535 | ALMS1 | c.7993A>G (p.Arg2665Gly) c.1385A>G c.5445A>G c.2440A>G (p.Arg814Gly) c.8374A>G (p.Arg2792Gly) c.896-29442A>G c.3030+175A>G (n.3030+175A>G) c.8248A>G (p.Arg2750Gly) n.2177A>G c.8377A>G (p.Arg2793Gly) | gnomAD v4 |
2 | g.73490333A>T | CA347268537 | ALMS1 | c.7993A>T (p.Arg2665Ter) c.1385A>T c.5445A>T c.2440A>T (p.Arg814Ter) c.8374A>T (p.Arg2792Ter) c.896-29442A>T c.3030+175A>T (n.3030+175A>T) c.8248A>T (p.Arg2750Ter) n.2177A>T c.8377A>T (p.Arg2793Ter) | |
2 | g.73490334G>A | CA347268539 | ALMS1 | c.7994G>A (p.Arg2665Lys) c.1386G>A c.5446G>A c.2441G>A (p.Arg814Lys) c.8375G>A (p.Arg2792Lys) c.896-29441G>A c.3030+176G>A (n.3030+176G>A) c.8249G>A (p.Arg2750Lys) n.2178G>A c.8378G>A (p.Arg2793Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.73490334G>C | CA347268542 | ALMS1 | c.7994G>C (p.Arg2665Thr) c.1386G>C c.5446G>C c.2441G>C (p.Arg814Thr) c.8375G>C (p.Arg2792Thr) c.896-29441G>C c.3030+176G>C (n.3030+176G>C) c.8249G>C (p.Arg2750Thr) n.2178G>C c.8378G>C (p.Arg2793Thr) | |
2 | g.73490334G= | CA1260981908 | ALMS1 | c.7994G= (p.Arg2665=) c.1386G= c.5446G= c.2441G= (p.Arg814=) c.8375G= (p.Arg2792=) c.896-29441G= c.3030+176G= (n.3030+176G=) c.8249G= (p.Arg2750=) n.2178G= c.8378G= (p.Arg2793=) | |
2 | g.73490334G>T | CA347268543 | ALMS1 | c.7994G>T (p.Arg2665Ile) c.1386G>T c.5446G>T c.2441G>T (p.Arg814Ile) c.8375G>T (p.Arg2792Ile) c.896-29441G>T c.3030+176G>T (n.3030+176G>T) c.8249G>T (p.Arg2750Ile) n.2178G>T c.8378G>T (p.Arg2793Ile) | |
2 | g.73490335A= | CA1260981910 | ALMS1 | c.7995A= (p.Arg2665=) c.1387A= c.5447A= c.2442A= (p.Arg814=) c.8376A= (p.Arg2792=) c.896-29440A= c.3030+177A= (n.3030+177A=) c.8250A= (p.Arg2750=) n.2179A= c.8379A= (p.Arg2793=) | |
2 | g.73490335A>C | CA347268549 | ALMS1 | c.7995A>C (p.Arg2665Ser) c.1387A>C c.5447A>C c.2442A>C (p.Arg814Ser) c.8376A>C (p.Arg2792Ser) c.896-29440A>C c.3030+177A>C (n.3030+177A>C) c.8250A>C (p.Arg2750Ser) n.2179A>C c.8379A>C (p.Arg2793Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73490335A>G | CA50378485 | ALMS1 | c.7995A>G (p.Arg2665=) c.1387A>G c.5447A>G c.2442A>G (p.Arg814=) c.8376A>G (p.Arg2792=) c.896-29440A>G c.3030+177A>G (n.3030+177A>G) c.8250A>G (p.Arg2750=) n.2179A>G c.8379A>G (p.Arg2793=) | ClinVar dbSNP gnomAD v4 |
2 | g.73490335A>T | CA347268545 | ALMS1 | c.7995A>T (p.Arg2665Ser) c.1387A>T c.5447A>T c.2442A>T (p.Arg814Ser) c.8376A>T (p.Arg2792Ser) c.896-29440A>T c.3030+177A>T (n.3030+177A>T) c.8250A>T (p.Arg2750Ser) n.2179A>T c.8379A>T (p.Arg2793Ser) | |
2 | g.73490336A= | CA1260981913 | ALMS1 | c.7996A= (p.Arg2666=) c.1388A= c.5448A= c.2443A= (p.Arg815=) c.8377A= (p.Arg2793=) c.896-29439A= c.3030+178A= (n.3030+178A=) c.8251A= (p.Arg2751=) n.2180A= c.8380A= (p.Arg2794=) | |
2 | g.73490336A>C | CA427013879 | ALMS1 | c.7996A>C (p.Arg2666=) c.1388A>C c.5448A>C c.2443A>C (p.Arg815=) c.8377A>C (p.Arg2793=) c.896-29439A>C c.3030+178A>C (n.3030+178A>C) c.8251A>C (p.Arg2751=) n.2180A>C c.8380A>C (p.Arg2794=) | |
2 | g.73490336A>G | CA347268552 | ALMS1 | c.7996A>G (p.Arg2666Gly) c.1388A>G c.5448A>G c.2443A>G (p.Arg815Gly) c.8377A>G (p.Arg2793Gly) c.896-29439A>G c.3030+178A>G (n.3030+178A>G) c.8251A>G (p.Arg2751Gly) n.2180A>G c.8380A>G (p.Arg2794Gly) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73490336A>T | CA347268553 | ALMS1 | c.7996A>T (p.Arg2666Trp) c.1388A>T c.5448A>T c.2443A>T (p.Arg815Trp) c.8377A>T (p.Arg2793Trp) c.896-29439A>T c.3030+178A>T (n.3030+178A>T) c.8251A>T (p.Arg2751Trp) n.2180A>T c.8380A>T (p.Arg2794Trp) | |
2 | g.73490337G>A | CA347268557 | ALMS1 | c.7997G>A (p.Arg2666Lys) c.1389G>A c.5449G>A c.2444G>A (p.Arg815Lys) c.8378G>A (p.Arg2793Lys) c.896-29438G>A c.3030+179G>A (n.3030+179G>A) c.8252G>A (p.Arg2751Lys) n.2181G>A c.8381G>A (p.Arg2794Lys) | |
2 | g.73490337G>C | CA347268561 | ALMS1 | c.7997G>C (p.Arg2666Thr) c.1389G>C c.5449G>C c.2444G>C (p.Arg815Thr) c.8378G>C (p.Arg2793Thr) c.896-29438G>C c.3030+179G>C (n.3030+179G>C) c.8252G>C (p.Arg2751Thr) n.2181G>C c.8381G>C (p.Arg2794Thr) | |
2 | g.73490337G>T | CA347268559 | ALMS1 | c.7997G>T (p.Arg2666Met) c.1389G>T c.5449G>T c.2444G>T (p.Arg815Met) c.8378G>T (p.Arg2793Met) c.896-29438G>T c.3030+179G>T (n.3030+179G>T) c.8252G>T (p.Arg2751Met) n.2181G>T c.8381G>T (p.Arg2794Met) | |
2 | g.73490338G>A | CA1714457 | ALMS1 | c.7998G>A (p.Arg2666=) c.1390G>A c.5450G>A c.2445G>A (p.Arg815=) c.8379G>A (p.Arg2793=) c.896-29437G>A c.3030+180G>A (n.3030+180G>A) c.8253G>A (p.Arg2751=) n.2182G>A c.8382G>A (p.Arg2794=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73490338G>C | CA347268566 | ALMS1 | c.7998G>C (p.Arg2666Ser) c.1390G>C c.5450G>C c.2445G>C (p.Arg815Ser) c.8379G>C (p.Arg2793Ser) c.896-29437G>C c.3030+180G>C (n.3030+180G>C) c.8253G>C (p.Arg2751Ser) n.2182G>C c.8382G>C (p.Arg2794Ser) | |
2 | g.73490338G= | CA1260981920 | ALMS1 | c.7998G= (p.Arg2666=) c.1390G= c.5450G= c.2445G= (p.Arg815=) c.8379G= (p.Arg2793=) c.896-29437G= c.3030+180G= (n.3030+180G=) c.8253G= (p.Arg2751=) n.2182G= c.8382G= (p.Arg2794=) | |
2 | g.73490338G>T | CA347268568 | ALMS1 | c.7998G>T (p.Arg2666Ser) c.1390G>T c.5450G>T c.2445G>T (p.Arg815Ser) c.8379G>T (p.Arg2793Ser) c.896-29437G>T c.3030+180G>T (n.3030+180G>T) c.8253G>T (p.Arg2751Ser) n.2182G>T c.8382G>T (p.Arg2794Ser) | |
2 | g.73490339C>A | CA347268573 | ALMS1 | c.7999C>A (p.Gln2667Lys) c.1391C>A c.5451C>A c.2446C>A (p.Gln816Lys) c.8380C>A (p.Gln2794Lys) c.896-29436C>A c.3030+181C>A (n.3030+181C>A) c.8254C>A (p.Gln2752Lys) n.2183C>A c.8383C>A (p.Gln2795Lys) | |
2 | g.73490339C= | CA1260981925 | ALMS1 | c.7999C= (p.Gln2667=) c.1391C= c.5451C= c.2446C= (p.Gln816=) c.8380C= (p.Gln2794=) c.896-29436C= c.3030+181C= (n.3030+181C=) c.8254C= (p.Gln2752=) n.2183C= c.8383C= (p.Gln2795=) | |
2 | g.73490339C>G | CA347268574 | ALMS1 | c.7999C>G (p.Gln2667Glu) c.1391C>G c.5451C>G c.2446C>G (p.Gln816Glu) c.8380C>G (p.Gln2794Glu) c.896-29436C>G c.3030+181C>G (n.3030+181C>G) c.8254C>G (p.Gln2752Glu) n.2183C>G c.8383C>G (p.Gln2795Glu) | dbSNP gnomAD v4 |
2 | g.73490339C>T | CA252950 | ALMS1 | c.7999C>T (p.Gln2667Ter) c.1391C>T c.5451C>T c.2446C>T (p.Gln816Ter) c.8380C>T (p.Gln2794Ter) c.896-29436C>T c.3030+181C>T (n.3030+181C>T) c.8254C>T (p.Gln2752Ter) n.2183C>T c.8383C>T (p.Gln2795Ter) | ClinVar dbSNP gnomAD v4 |
2 | g.73490340A>C | CA347268576 | ALMS1 | c.8000A>C (p.Gln2667Pro) c.1392A>C c.5452A>C c.2447A>C (p.Gln816Pro) c.8381A>C (p.Gln2794Pro) c.896-29435A>C c.3030+182A>C (n.3030+182A>C) c.8255A>C (p.Gln2752Pro) n.2184A>C c.8384A>C (p.Gln2795Pro) | |
2 | g.73490340A>G | CA347268579 | ALMS1 | c.8000A>G (p.Gln2667Arg) c.1392A>G c.5452A>G c.2447A>G (p.Gln816Arg) c.8381A>G (p.Gln2794Arg) c.896-29435A>G c.3030+182A>G (n.3030+182A>G) c.8255A>G (p.Gln2752Arg) n.2184A>G c.8384A>G (p.Gln2795Arg) | |
2 | g.73490340A>T | CA347268582 | ALMS1 | c.8000A>T (p.Gln2667Leu) c.1392A>T c.5452A>T c.2447A>T (p.Gln816Leu) c.8381A>T (p.Gln2794Leu) c.896-29435A>T c.3030+182A>T (n.3030+182A>T) c.8255A>T (p.Gln2752Leu) n.2184A>T c.8384A>T (p.Gln2795Leu) |