UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.73601407_73601419del | CA913090880 | ALMS1 | c.11704_11716del (p.Leu3902Ter) c.11167-778_11167-766del (n.11167-778_11167-766del) c.4790_4802del c.8985_8997del c.6151_6163del (p.Leu2051Ter) c.9169_9181del c.12085_12097del (p.Leu4029Ter) c.2239_2251del (p.Leu747Ter) c.3441_3453del c.1260+526_1260+538del c.3256_3268del n.260_272del c.11959_11971del (p.Leu3987Ter) n.5888_5900del c.12088_12100del (p.Leu4030Ter) | |
| 2 | g.73601407_73601419delinsCTGAGGCCATTTG | CA1261034070 | ALMS1 | c.11704_11716delinsCTGAGGCCATTTG (p.Leu3902=) c.11167-778_11167-766delinsCTGAGGCCATTTG (n.11167-778_11167-766delinsCTGAGGCCATTTG) c.4790_4802delinsCTGAGGCCATTTG c.8985_8997delinsCTGAGGCCATTTG c.6151_6163delinsCTGAGGCCATTTG (p.Leu2051=) c.9169_9181delinsCTGAGGCCATTTG c.12085_12097delinsCTGAGGCCATTTG (p.Leu4029=) c.2239_2251delinsCTGAGGCCATTTG (p.Leu747=) c.3441_3453delinsCTGAGGCCATTTG c.1260+526_1260+538delinsCTGAGGCCATTTG c.3256_3268delinsCTGAGGCCATTTG n.260_272delinsCTGAGGCCATTTG c.11959_11971delinsCTGAGGCCATTTG (p.Leu3987=) n.5888_5900delinsCTGAGGCCATTTG c.12088_12100delinsCTGAGGCCATTTG (p.Leu4030=) | |
| 2 | g.73601412_73601423del | CA534125800 | ALMS1 | c.11709_11720del (p.Pro3904_Arg3907del) c.11167-773_11167-762del (n.11167-773_11167-762del) c.4795_4806del c.8990_9001del c.6156_6167del (p.Pro2053_Arg2056del) c.9174_9185del c.12090_12101del (p.Pro4031_Arg4034del) c.2244_2255del (p.Pro749_Arg752del) c.3446_3457del c.1260+531_1260+542del c.3261_3272del n.265_276del c.11964_11975del (p.Pro3989_Arg3992del) n.5893_5904del c.12093_12104del (p.Pro4032_Arg4035del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.73601411G>A | CA1715420 | ALMS1 | c.11708G>A (p.Arg3903Lys) c.11167-774G>A (n.11167-774G>A) c.4794G>A c.8989G>A c.6155G>A (p.Arg2052Lys) c.9173G>A c.12089G>A (p.Arg4030Lys) c.2243G>A (p.Arg748Lys) c.3445G>A c.1260+530G>A c.3260G>A n.264G>A c.11963G>A (p.Arg3988Lys) n.5892G>A c.12092G>A (p.Arg4031Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.73601411G>C | CA347267078 | ALMS1 | c.11708G>C (p.Arg3903Thr) c.11167-774G>C (n.11167-774G>C) c.4794G>C c.8989G>C c.6155G>C (p.Arg2052Thr) c.9173G>C c.12089G>C (p.Arg4030Thr) c.2243G>C (p.Arg748Thr) c.3445G>C c.1260+530G>C c.3260G>C n.264G>C c.11963G>C (p.Arg3988Thr) n.5892G>C c.12092G>C (p.Arg4031Thr) | dbSNP |
| 2 | g.73601411G= | CA1261034094 | ALMS1 | c.11708G= (p.Arg3903=) c.11167-774G= (n.11167-774G=) c.4794G= c.8989G= c.6155G= (p.Arg2052=) c.9173G= c.12089G= (p.Arg4030=) c.2243G= (p.Arg748=) c.3445G= c.1260+530G= c.3260G= n.264G= c.11963G= (p.Arg3988=) n.5892G= c.12092G= (p.Arg4031=) | |
| 2 | g.73601411G>T | CA347267081 | ALMS1 | c.11708G>T (p.Arg3903Met) c.11167-774G>T (n.11167-774G>T) c.4794G>T c.8989G>T c.6155G>T (p.Arg2052Met) c.9173G>T c.12089G>T (p.Arg4030Met) c.2243G>T (p.Arg748Met) c.3445G>T c.1260+530G>T c.3260G>T n.264G>T c.11963G>T (p.Arg3988Met) n.5892G>T c.12092G>T (p.Arg4031Met) | |
| 2 | g.73601411_73601412delinsAA | CA2697548299 | ALMS1 | c.11708_11709delinsAA (p.Arg3903Lys) c.11167-774_11167-773delinsAA (n.11167-774_11167-773delinsAA) c.4794_4795delinsAA c.8989_8990delinsAA c.6155_6156delinsAA (p.Arg2052Lys) c.9173_9174delinsAA c.12089_12090delinsAA (p.Arg4030Lys) c.2243_2244delinsAA (p.Arg748Lys) c.3445_3446delinsAA c.1260+530_1260+531delinsAA c.3260_3261delinsAA n.264_265delinsAA c.11963_11964delinsAA (p.Arg3988Lys) n.5892_5893delinsAA c.12092_12093delinsAA (p.Arg4031Lys) | ClinVar |
| 2 | g.73601412G>A | CA426783736 | ALMS1 | c.11709G>A (p.Arg3903=) c.11167-773G>A (n.11167-773G>A) c.4795G>A c.8990G>A c.6156G>A (p.Arg2052=) c.9174G>A c.12090G>A (p.Arg4030=) c.2244G>A (p.Arg748=) c.3446G>A c.1260+531G>A c.3261G>A n.265G>A c.11964G>A (p.Arg3988=) n.5893G>A c.12093G>A (p.Arg4031=) | |
| 2 | g.73601412G>C | CA347267087 | ALMS1 | c.11709G>C (p.Arg3903Ser) c.11167-773G>C (n.11167-773G>C) c.4795G>C c.8990G>C c.6156G>C (p.Arg2052Ser) c.9174G>C c.12090G>C (p.Arg4030Ser) c.2244G>C (p.Arg748Ser) c.3446G>C c.1260+531G>C c.3261G>C n.265G>C c.11964G>C (p.Arg3988Ser) n.5893G>C c.12093G>C (p.Arg4031Ser) | |
| 2 | g.73601412G>T | CA347267090 | ALMS1 | c.11709G>T (p.Arg3903Ser) c.11167-773G>T (n.11167-773G>T) c.4795G>T c.8990G>T c.6156G>T (p.Arg2052Ser) c.9174G>T c.12090G>T (p.Arg4030Ser) c.2244G>T (p.Arg748Ser) c.3446G>T c.1260+531G>T c.3261G>T n.265G>T c.11964G>T (p.Arg3988Ser) n.5893G>T c.12093G>T (p.Arg4031Ser) | |
| 2 | g.73601413_73601419dup | CA2659621094 | ALMS1 | c.11710_11716dup (p.Val3906AlafsTer17) c.11167-772_11167-766dup (n.11167-772_11167-766dup) c.4796_4802dup c.8991_8997dup c.6157_6163dup (p.Val2055AlafsTer17) c.9175_9181dup c.12091_12097dup (p.Val4033AlafsTer17) c.2245_2251dup (p.Val751AlafsTer17) c.3447_3453dup c.1260+532_1260+538dup c.3262_3268dup n.266_272dup c.11965_11971dup (p.Val3991AlafsTer17) n.5894_5900dup c.12094_12100dup (p.Val4034AlafsTer17) | gnomAD v4 |
| 2 | g.73601413C>A | CA347267094 | ALMS1 | c.11710C>A (p.Pro3904Thr) c.11167-772C>A (n.11167-772C>A) c.4796C>A c.8991C>A c.6157C>A (p.Pro2053Thr) c.9175C>A c.12091C>A (p.Pro4031Thr) c.2245C>A (p.Pro749Thr) c.3447C>A c.1260+532C>A c.3262C>A n.266C>A c.11965C>A (p.Pro3989Thr) n.5894C>A c.12094C>A (p.Pro4032Thr) | |
| 2 | g.73601413C= | CA1261034099 | ALMS1 | c.11710C= (p.Pro3904=) c.11167-772C= (n.11167-772C=) c.4796C= c.8991C= c.6157C= (p.Pro2053=) c.9175C= c.12091C= (p.Pro4031=) c.2245C= (p.Pro749=) c.3447C= c.1260+532C= c.3262C= n.266C= c.11965C= (p.Pro3989=) n.5894C= c.12094C= (p.Pro4032=) | |
| 2 | g.73601413C>G | CA347267099 | ALMS1 | c.11710C>G (p.Pro3904Ala) c.11167-772C>G (n.11167-772C>G) c.4796C>G c.8991C>G c.6157C>G (p.Pro2053Ala) c.9175C>G c.12091C>G (p.Pro4031Ala) c.2245C>G (p.Pro749Ala) c.3447C>G c.1260+532C>G c.3262C>G n.266C>G c.11965C>G (p.Pro3989Ala) n.5894C>G c.12094C>G (p.Pro4032Ala) | dbSNP |
| 2 | g.73601413C>T | CA347267104 | ALMS1 | c.11710C>T (p.Pro3904Ser) c.11167-772C>T (n.11167-772C>T) c.4796C>T c.8991C>T c.6157C>T (p.Pro2053Ser) c.9175C>T c.12091C>T (p.Pro4031Ser) c.2245C>T (p.Pro749Ser) c.3447C>T c.1260+532C>T c.3262C>T n.266C>T c.11965C>T (p.Pro3989Ser) n.5894C>T c.12094C>T (p.Pro4032Ser) | |
| 2 | g.73601414C>A | CA1715421 | ALMS1 | c.11711C>A (p.Pro3904Gln) c.11167-771C>A (n.11167-771C>A) c.4797C>A c.8992C>A c.6158C>A (p.Pro2053Gln) c.9176C>A c.12092C>A (p.Pro4031Gln) c.2246C>A (p.Pro749Gln) c.3448C>A c.1260+533C>A c.3263C>A n.267C>A c.11966C>A (p.Pro3989Gln) n.5895C>A c.12095C>A (p.Pro4032Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.73601414C= | CA1261034103 | ALMS1 | c.11711C= (p.Pro3904=) c.11167-771C= (n.11167-771C=) c.4797C= c.8992C= c.6158C= (p.Pro2053=) c.9176C= c.12092C= (p.Pro4031=) c.2246C= (p.Pro749=) c.3448C= c.1260+533C= c.3263C= n.267C= c.11966C= (p.Pro3989=) n.5895C= c.12095C= (p.Pro4032=) | |
| 2 | g.73601414C>G | CA347267111 | ALMS1 | c.11711C>G (p.Pro3904Arg) c.11167-771C>G (n.11167-771C>G) c.4797C>G c.8992C>G c.6158C>G (p.Pro2053Arg) c.9176C>G c.12092C>G (p.Pro4031Arg) c.2246C>G (p.Pro749Arg) c.3448C>G c.1260+533C>G c.3263C>G n.267C>G c.11966C>G (p.Pro3989Arg) n.5895C>G c.12095C>G (p.Pro4032Arg) | |
| 2 | g.73601414C>T | CA347267114 | ALMS1 | c.11711C>T (p.Pro3904Leu) c.11167-771C>T (n.11167-771C>T) c.4797C>T c.8992C>T c.6158C>T (p.Pro2053Leu) c.9176C>T c.12092C>T (p.Pro4031Leu) c.2246C>T (p.Pro749Leu) c.3448C>T c.1260+533C>T c.3263C>T n.267C>T c.11966C>T (p.Pro3989Leu) n.5895C>T c.12095C>T (p.Pro4032Leu) | gnomAD v4 |
| 2 | g.73601415A= | CA1261034112 | ALMS1 | c.11712A= (p.Pro3904=) c.11167-770A= (n.11167-770A=) c.4798A= c.8993A= c.6159A= (p.Pro2053=) c.9177A= c.12093A= (p.Pro4031=) c.2247A= (p.Pro749=) c.3449A= c.1260+534A= c.3264A= n.268A= c.11967A= (p.Pro3989=) n.5896A= c.12096A= (p.Pro4032=) | |
| 2 | g.73601415A>C | CA426783749 | ALMS1 | c.11712A>C (p.Pro3904=) c.11167-770A>C (n.11167-770A>C) c.4798A>C c.8993A>C c.6159A>C (p.Pro2053=) c.9177A>C c.12093A>C (p.Pro4031=) c.2247A>C (p.Pro749=) c.3449A>C c.1260+534A>C c.3264A>C n.268A>C c.11967A>C (p.Pro3989=) n.5896A>C c.12096A>C (p.Pro4032=) | |
| 2 | g.73601415A>G | CA1715422 | ALMS1 | c.11712A>G (p.Pro3904=) c.11167-770A>G (n.11167-770A>G) c.4798A>G c.8993A>G c.6159A>G (p.Pro2053=) c.9177A>G c.12093A>G (p.Pro4031=) c.2247A>G (p.Pro749=) c.3449A>G c.1260+534A>G c.3264A>G n.268A>G c.11967A>G (p.Pro3989=) n.5896A>G c.12096A>G (p.Pro4032=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.73601415A>T | CA426783751 | ALMS1 | c.11712A>T (p.Pro3904=) c.11167-770A>T (n.11167-770A>T) c.4798A>T c.8993A>T c.6159A>T (p.Pro2053=) c.9177A>T c.12093A>T (p.Pro4031=) c.2247A>T (p.Pro749=) c.3449A>T c.1260+534A>T c.3264A>T n.268A>T c.11967A>T (p.Pro3989=) n.5896A>T c.12096A>T (p.Pro4032=) | |
| 2 | g.73601416T>A | CA347267128 | ALMS1 | c.11713T>A (p.Phe3905Ile) c.11167-769T>A (n.11167-769T>A) c.4799T>A c.8994T>A c.6160T>A (p.Phe2054Ile) c.9178T>A c.12094T>A (p.Phe4032Ile) c.2248T>A (p.Phe750Ile) c.3450T>A c.1260+535T>A c.3265T>A n.269T>A c.11968T>A (p.Phe3990Ile) n.5897T>A c.12097T>A (p.Phe4033Ile) | |
| 2 | g.73601416T>C | CA347267124 | ALMS1 | c.11713T>C (p.Phe3905Leu) c.11167-769T>C (n.11167-769T>C) c.4799T>C c.8994T>C c.6160T>C (p.Phe2054Leu) c.9178T>C c.12094T>C (p.Phe4032Leu) c.2248T>C (p.Phe750Leu) c.3450T>C c.1260+535T>C c.3265T>C n.269T>C c.11968T>C (p.Phe3990Leu) n.5897T>C c.12097T>C (p.Phe4033Leu) | |
| 2 | g.73601416T>G | CA347267122 | ALMS1 | c.11713T>G (p.Phe3905Val) c.11167-769T>G (n.11167-769T>G) c.4799T>G c.8994T>G c.6160T>G (p.Phe2054Val) c.9178T>G c.12094T>G (p.Phe4032Val) c.2248T>G (p.Phe750Val) c.3450T>G c.1260+535T>G c.3265T>G n.269T>G c.11968T>G (p.Phe3990Val) n.5897T>G c.12097T>G (p.Phe4033Val) | |
| 2 | g.73601417T>A | CA347267132 | ALMS1 | c.11714T>A (p.Phe3905Tyr) c.11167-768T>A (n.11167-768T>A) c.4800T>A c.8995T>A c.6161T>A (p.Phe2054Tyr) c.9179T>A c.12095T>A (p.Phe4032Tyr) c.2249T>A (p.Phe750Tyr) c.3451T>A c.1260+536T>A c.3266T>A n.270T>A c.11969T>A (p.Phe3990Tyr) n.5898T>A c.12098T>A (p.Phe4033Tyr) | |
| 2 | g.73601417T>C | CA347267136 | ALMS1 | c.11714T>C (p.Phe3905Ser) c.11167-768T>C (n.11167-768T>C) c.4800T>C c.8995T>C c.6161T>C (p.Phe2054Ser) c.9179T>C c.12095T>C (p.Phe4032Ser) c.2249T>C (p.Phe750Ser) c.3451T>C c.1260+536T>C c.3266T>C n.270T>C c.11969T>C (p.Phe3990Ser) n.5898T>C c.12098T>C (p.Phe4033Ser) | |
| 2 | g.73601417T>G | CA347267140 | ALMS1 | c.11714T>G (p.Phe3905Cys) c.11167-768T>G (n.11167-768T>G) c.4800T>G c.8995T>G c.6161T>G (p.Phe2054Cys) c.9179T>G c.12095T>G (p.Phe4032Cys) c.2249T>G (p.Phe750Cys) c.3451T>G c.1260+536T>G c.3266T>G n.270T>G c.11969T>G (p.Phe3990Cys) n.5898T>G c.12098T>G (p.Phe4033Cys) | |
| 2 | g.73601418T>A | CA347267144 | ALMS1 | c.11715T>A (p.Phe3905Leu) c.11167-767T>A (n.11167-767T>A) c.4801T>A c.8996T>A c.6162T>A (p.Phe2054Leu) c.9180T>A c.12096T>A (p.Phe4032Leu) c.2250T>A (p.Phe750Leu) c.3452T>A c.1260+537T>A c.3267T>A n.271T>A c.11970T>A (p.Phe3990Leu) n.5899T>A c.12099T>A (p.Phe4033Leu) | |
| 2 | g.73601418T>C | CA426783765 | ALMS1 | c.11715T>C (p.Phe3905=) c.11167-767T>C (n.11167-767T>C) c.4801T>C c.8996T>C c.6162T>C (p.Phe2054=) c.9180T>C c.12096T>C (p.Phe4032=) c.2250T>C (p.Phe750=) c.3452T>C c.1260+537T>C c.3267T>C n.271T>C c.11970T>C (p.Phe3990=) n.5899T>C c.12099T>C (p.Phe4033=) | |
| 2 | g.73601418T>G | CA347267147 | ALMS1 | c.11715T>G (p.Phe3905Leu) c.11167-767T>G (n.11167-767T>G) c.4801T>G c.8996T>G c.6162T>G (p.Phe2054Leu) c.9180T>G c.12096T>G (p.Phe4032Leu) c.2250T>G (p.Phe750Leu) c.3452T>G c.1260+537T>G c.3267T>G n.271T>G c.11970T>G (p.Phe3990Leu) n.5899T>G c.12099T>G (p.Phe4033Leu) | |
| 2 | g.73601419G>A | CA347267152 | ALMS1 | c.11716G>A (p.Val3906Met) c.11167-766G>A (n.11167-766G>A) c.4802G>A c.8997G>A c.6163G>A (p.Val2055Met) c.9181G>A c.12097G>A (p.Val4033Met) c.2251G>A (p.Val751Met) c.3453G>A c.1260+538G>A c.3268G>A n.272G>A c.11971G>A (p.Val3991Met) n.5900G>A c.12100G>A (p.Val4034Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.73601419G>C | CA347267155 | ALMS1 | c.11716G>C (p.Val3906Leu) c.11167-766G>C (n.11167-766G>C) c.4802G>C c.8997G>C c.6163G>C (p.Val2055Leu) c.9181G>C c.12097G>C (p.Val4033Leu) c.2251G>C (p.Val751Leu) c.3453G>C c.1260+538G>C c.3268G>C n.272G>C c.11971G>C (p.Val3991Leu) n.5900G>C c.12100G>C (p.Val4034Leu) | |
| 2 | g.73601419G= | CA1261034116 | ALMS1 | c.11716G= (p.Val3906=) c.11167-766G= (n.11167-766G=) c.4802G= c.8997G= c.6163G= (p.Val2055=) c.9181G= c.12097G= (p.Val4033=) c.2251G= (p.Val751=) c.3453G= c.1260+538G= c.3268G= n.272G= c.11971G= (p.Val3991=) n.5900G= c.12100G= (p.Val4034=) | |
| 2 | g.73601419G>T | CA347267158 | ALMS1 | c.11716G>T (p.Val3906Leu) c.11167-766G>T (n.11167-766G>T) c.4802G>T c.8997G>T c.6163G>T (p.Val2055Leu) c.9181G>T c.12097G>T (p.Val4033Leu) c.2251G>T (p.Val751Leu) c.3453G>T c.1260+538G>T c.3268G>T n.272G>T c.11971G>T (p.Val3991Leu) n.5900G>T c.12100G>T (p.Val4034Leu) | |
| 2 | g.73601420T>A | CA347267161 | ALMS1 | c.11717T>A (p.Val3906Glu) c.11167-765T>A (n.11167-765T>A) c.4803T>A c.8998T>A c.6164T>A (p.Val2055Glu) c.9182T>A c.12098T>A (p.Val4033Glu) c.2252T>A (p.Val751Glu) c.3454T>A c.1260+539T>A c.3269T>A n.273T>A c.11972T>A (p.Val3991Glu) n.5901T>A c.12101T>A (p.Val4034Glu) | |
| 2 | g.73601420T>C | CA347267164 | ALMS1 | c.11717T>C (p.Val3906Ala) c.11167-765T>C (n.11167-765T>C) c.4803T>C c.8998T>C c.6164T>C (p.Val2055Ala) c.9182T>C c.12098T>C (p.Val4033Ala) c.2252T>C (p.Val751Ala) c.3454T>C c.1260+539T>C c.3269T>C n.273T>C c.11972T>C (p.Val3991Ala) n.5901T>C c.12101T>C (p.Val4034Ala) | |
| 2 | g.73601420T>G | CA347267167 | ALMS1 | c.11717T>G (p.Val3906Gly) c.11167-765T>G (n.11167-765T>G) c.4803T>G c.8998T>G c.6164T>G (p.Val2055Gly) c.9182T>G c.12098T>G (p.Val4033Gly) c.2252T>G (p.Val751Gly) c.3454T>G c.1260+539T>G c.3269T>G n.273T>G c.11972T>G (p.Val3991Gly) n.5901T>G c.12101T>G (p.Val4034Gly) | |
| 2 | g.73601421G>A | CA426783774 | ALMS1 | c.11718G>A (p.Val3906=) c.11167-764G>A (n.11167-764G>A) c.4804G>A c.8999G>A c.6165G>A (p.Val2055=) c.9183G>A c.12099G>A (p.Val4033=) c.2253G>A (p.Val751=) c.3455G>A c.1260+540G>A c.3270G>A n.274G>A c.11973G>A (p.Val3991=) n.5902G>A c.12102G>A (p.Val4034=) | |
| 2 | g.73601421G>C | CA426783775 | ALMS1 | c.11718G>C (p.Val3906=) c.11167-764G>C (n.11167-764G>C) c.4804G>C c.8999G>C c.6165G>C (p.Val2055=) c.9183G>C c.12099G>C (p.Val4033=) c.2253G>C (p.Val751=) c.3455G>C c.1260+540G>C c.3270G>C n.274G>C c.11973G>C (p.Val3991=) n.5902G>C c.12102G>C (p.Val4034=) | |
| 2 | g.73601421G>T | CA426783777 | ALMS1 | c.11718G>T (p.Val3906=) c.11167-764G>T (n.11167-764G>T) c.4804G>T c.8999G>T c.6165G>T (p.Val2055=) c.9183G>T c.12099G>T (p.Val4033=) c.2253G>T (p.Val751=) c.3455G>T c.1260+540G>T c.3270G>T n.274G>T c.11973G>T (p.Val3991=) n.5902G>T c.12102G>T (p.Val4034=) | |
| 2 | g.73601422A= | CA1261034120 | ALMS1 | c.11719A= (p.Arg3907=) c.11167-763A= (n.11167-763A=) c.4805A= c.9000A= c.6166A= (p.Arg2056=) c.9184A= c.12100A= (p.Arg4034=) c.2254A= (p.Arg752=) c.3456A= c.1260+541A= c.3271A= n.275A= c.11974A= (p.Arg3992=) n.5903A= c.12103A= (p.Arg4035=) | |
| 2 | g.73601422A>C | CA426783778 | ALMS1 | c.11719A>C (p.Arg3907=) c.11167-763A>C (n.11167-763A>C) c.4805A>C c.9000A>C c.6166A>C (p.Arg2056=) c.9184A>C c.12100A>C (p.Arg4034=) c.2254A>C (p.Arg752=) c.3456A>C c.1260+541A>C c.3271A>C n.275A>C c.11974A>C (p.Arg3992=) n.5903A>C c.12103A>C (p.Arg4035=) | |
| 2 | g.73601422A>G | CA1715423 | ALMS1 | c.11719A>G (p.Arg3907Gly) c.11167-763A>G (n.11167-763A>G) c.4805A>G c.9000A>G c.6166A>G (p.Arg2056Gly) c.9184A>G c.12100A>G (p.Arg4034Gly) c.2254A>G (p.Arg752Gly) c.3456A>G c.1260+541A>G c.3271A>G n.275A>G c.11974A>G (p.Arg3992Gly) n.5903A>G c.12103A>G (p.Arg4035Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.73601422A>T | CA347267175 | ALMS1 | c.11719A>T (p.Arg3907Ter) c.11167-763A>T (n.11167-763A>T) c.4805A>T c.9000A>T c.6166A>T (p.Arg2056Ter) c.9184A>T c.12100A>T (p.Arg4034Ter) c.2254A>T (p.Arg752Ter) c.3456A>T c.1260+541A>T c.3271A>T n.275A>T c.11974A>T (p.Arg3992Ter) n.5903A>T c.12103A>T (p.Arg4035Ter) | |
| 2 | g.73601422_73601423delinsAG | CA1261034119 | ALMS1 | c.11719_11720delinsAG (p.Arg3907=) c.11167-763_11167-762delinsAG (n.11167-763_11167-762delinsAG) c.4805_4806delinsAG c.9000_9001delinsAG c.6166_6167delinsAG (p.Arg2056=) c.9184_9185delinsAG c.12100_12101delinsAG (p.Arg4034=) c.2254_2255delinsAG (p.Arg752=) c.3456_3457delinsAG c.1260+541_1260+542delinsAG c.3271_3272delinsAG n.275_276delinsAG c.11974_11975delinsAG (p.Arg3992=) n.5903_5904delinsAG c.12103_12104delinsAG (p.Arg4035=) | |
| 2 | g.73601423del | CA50337440 | ALMS1 | c.11720del (p.Arg3907LysfsTer23) c.11167-762del (n.11167-762del) c.4806del c.9001del c.6167del (p.Arg2056LysfsTer23) c.9185del c.12101del (p.Arg4034LysfsTer23) c.2255del (p.Arg752LysfsTer23) c.3457del c.1260+542del c.3272del n.276del c.11975del (p.Arg3992LysfsTer23) n.5904del c.12104del (p.Arg4035LysfsTer23) | dbSNP |
| 2 | g.73601423G>A | CA1715424 | ALMS1 | c.11720G>A (p.Arg3907Lys) c.11167-762G>A (n.11167-762G>A) c.4806G>A c.9001G>A c.6167G>A (p.Arg2056Lys) c.9185G>A c.12101G>A (p.Arg4034Lys) c.2255G>A (p.Arg752Lys) c.3457G>A c.1260+542G>A c.3272G>A n.276G>A c.11975G>A (p.Arg3992Lys) n.5904G>A c.12104G>A (p.Arg4035Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |