Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.73601329G>A | CA1715402 | ALMS1 | c.11626G>A (p.Glu3876Lys) c.11167-856G>A (n.11167-856G>A) c.4712G>A c.8907G>A c.6073G>A (p.Glu2025Lys) c.9091G>A c.12007G>A (p.Glu4003Lys) c.2161G>A (p.Glu721Lys) c.3363G>A c.1260+448G>A c.3178G>A n.182G>A c.11881G>A (p.Glu3961Lys) n.5810G>A c.12010G>A (p.Glu4004Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73601329G>C | CA347266360 | ALMS1 | c.11626G>C (p.Glu3876Gln) c.11167-856G>C (n.11167-856G>C) c.4712G>C c.8907G>C c.6073G>C (p.Glu2025Gln) c.9091G>C c.12007G>C (p.Glu4003Gln) c.2161G>C (p.Glu721Gln) c.3363G>C c.1260+448G>C c.3178G>C n.182G>C c.11881G>C (p.Glu3961Gln) n.5810G>C c.12010G>C (p.Glu4004Gln) | |
2 | g.73601329G= | CA1261033900 | ALMS1 | c.11626G= (p.Glu3876=) c.11167-856G= (n.11167-856G=) c.4712G= c.8907G= c.6073G= (p.Glu2025=) c.9091G= c.12007G= (p.Glu4003=) c.2161G= (p.Glu721=) c.3363G= c.1260+448G= c.3178G= n.182G= c.11881G= (p.Glu3961=) n.5810G= c.12010G= (p.Glu4004=) | |
2 | g.73601329G>T | CA347266362 | ALMS1 | c.11626G>T (p.Glu3876Ter) c.11167-856G>T (n.11167-856G>T) c.4712G>T c.8907G>T c.6073G>T (p.Glu2025Ter) c.9091G>T c.12007G>T (p.Glu4003Ter) c.2161G>T (p.Glu721Ter) c.3363G>T c.1260+448G>T c.3178G>T n.182G>T c.11881G>T (p.Glu3961Ter) n.5810G>T c.12010G>T (p.Glu4004Ter) | |
2 | g.73601330A>C | CA347266365 | ALMS1 | c.11627A>C (p.Glu3876Ala) c.11167-855A>C (n.11167-855A>C) c.4713A>C c.8908A>C c.6074A>C (p.Glu2025Ala) c.9092A>C c.12008A>C (p.Glu4003Ala) c.2162A>C (p.Glu721Ala) c.3364A>C c.1260+449A>C c.3179A>C n.183A>C c.11882A>C (p.Glu3961Ala) n.5811A>C c.12011A>C (p.Glu4004Ala) | |
2 | g.73601330A>G | CA347266367 | ALMS1 | c.11627A>G (p.Glu3876Gly) c.11167-855A>G (n.11167-855A>G) c.4713A>G c.8908A>G c.6074A>G (p.Glu2025Gly) c.9092A>G c.12008A>G (p.Glu4003Gly) c.2162A>G (p.Glu721Gly) c.3364A>G c.1260+449A>G c.3179A>G n.183A>G c.11882A>G (p.Glu3961Gly) n.5811A>G c.12011A>G (p.Glu4004Gly) | |
2 | g.73601330A>T | CA347266371 | ALMS1 | c.11627A>T (p.Glu3876Val) c.11167-855A>T (n.11167-855A>T) c.4713A>T c.8908A>T c.6074A>T (p.Glu2025Val) c.9092A>T c.12008A>T (p.Glu4003Val) c.2162A>T (p.Glu721Val) c.3364A>T c.1260+449A>T c.3179A>T n.183A>T c.11882A>T (p.Glu3961Val) n.5811A>T c.12011A>T (p.Glu4004Val) | |
2 | g.73601332_73601334del | CA2659621093 | ALMS1 | c.11629_11631del (p.Gln3877del) c.11167-853_11167-851del (n.11167-853_11167-851del) c.4715_4717del c.8910_8912del c.6076_6078del (p.Gln2026del) c.9094_9096del c.12010_12012del (p.Gln4004del) c.2164_2166del (p.Gln722del) c.3366_3368del c.1260+451_1260+453del c.3181_3183del n.185_187del c.11884_11886del (p.Gln3962del) n.5813_5815del c.12013_12015del (p.Gln4005del) | gnomAD v4 |
2 | g.73601331G>A | CA426783574 | ALMS1 | c.11628G>A (p.Glu3876=) c.11167-854G>A (n.11167-854G>A) c.4714G>A c.8909G>A c.6075G>A (p.Glu2025=) c.9093G>A c.12009G>A (p.Glu4003=) c.2163G>A (p.Glu721=) c.3365G>A c.1260+450G>A c.3180G>A n.184G>A c.11883G>A (p.Glu3961=) n.5812G>A c.12012G>A (p.Glu4004=) | |
2 | g.73601331G>C | CA347266373 | ALMS1 | c.11628G>C (p.Glu3876Asp) c.11167-854G>C (n.11167-854G>C) c.4714G>C c.8909G>C c.6075G>C (p.Glu2025Asp) c.9093G>C c.12009G>C (p.Glu4003Asp) c.2163G>C (p.Glu721Asp) c.3365G>C c.1260+450G>C c.3180G>C n.184G>C c.11883G>C (p.Glu3961Asp) n.5812G>C c.12012G>C (p.Glu4004Asp) | |
2 | g.73601331G>T | CA347266377 | ALMS1 | c.11628G>T (p.Glu3876Asp) c.11167-854G>T (n.11167-854G>T) c.4714G>T c.8909G>T c.6075G>T (p.Glu2025Asp) c.9093G>T c.12009G>T (p.Glu4003Asp) c.2163G>T (p.Glu721Asp) c.3365G>T c.1260+450G>T c.3180G>T n.184G>T c.11883G>T (p.Glu3961Asp) n.5812G>T c.12012G>T (p.Glu4004Asp) | |
2 | g.73601332C>A | CA347266382 | ALMS1 | c.11629C>A (p.Gln3877Lys) c.11167-853C>A (n.11167-853C>A) c.4715C>A c.8910C>A c.6076C>A (p.Gln2026Lys) c.9094C>A c.12010C>A (p.Gln4004Lys) c.2164C>A (p.Gln722Lys) c.3366C>A c.1260+451C>A c.3181C>A n.185C>A c.11884C>A (p.Gln3962Lys) n.5813C>A c.12013C>A (p.Gln4005Lys) | gnomAD v4 |
2 | g.73601332C>G | CA347266384 | ALMS1 | c.11629C>G (p.Gln3877Glu) c.11167-853C>G (n.11167-853C>G) c.4715C>G c.8910C>G c.6076C>G (p.Gln2026Glu) c.9094C>G c.12010C>G (p.Gln4004Glu) c.2164C>G (p.Gln722Glu) c.3366C>G c.1260+451C>G c.3181C>G n.185C>G c.11884C>G (p.Gln3962Glu) n.5813C>G c.12013C>G (p.Gln4005Glu) | ClinVar dbSNP |
2 | g.73601332C>T | CA347266387 | ALMS1 | c.11629C>T (p.Gln3877Ter) c.11167-853C>T (n.11167-853C>T) c.4715C>T c.8910C>T c.6076C>T (p.Gln2026Ter) c.9094C>T c.12010C>T (p.Gln4004Ter) c.2164C>T (p.Gln722Ter) c.3366C>T c.1260+451C>T c.3181C>T n.185C>T c.11884C>T (p.Gln3962Ter) n.5813C>T c.12013C>T (p.Gln4005Ter) | |
2 | g.73601333A>C | CA347266395 | ALMS1 | c.11630A>C (p.Gln3877Pro) c.11167-852A>C (n.11167-852A>C) c.4716A>C c.8911A>C c.6077A>C (p.Gln2026Pro) c.9095A>C c.12011A>C (p.Gln4004Pro) c.2165A>C (p.Gln722Pro) c.3367A>C c.1260+452A>C c.3182A>C n.186A>C c.11885A>C (p.Gln3962Pro) n.5814A>C c.12014A>C (p.Gln4005Pro) | |
2 | g.73601333A>G | CA347266392 | ALMS1 | c.11630A>G (p.Gln3877Arg) c.11167-852A>G (n.11167-852A>G) c.4716A>G c.8911A>G c.6077A>G (p.Gln2026Arg) c.9095A>G c.12011A>G (p.Gln4004Arg) c.2165A>G (p.Gln722Arg) c.3367A>G c.1260+452A>G c.3182A>G n.186A>G c.11885A>G (p.Gln3962Arg) n.5814A>G c.12014A>G (p.Gln4005Arg) | gnomAD v4 |
2 | g.73601333A>T | CA347266390 | ALMS1 | c.11630A>T (p.Gln3877Leu) c.11167-852A>T (n.11167-852A>T) c.4716A>T c.8911A>T c.6077A>T (p.Gln2026Leu) c.9095A>T c.12011A>T (p.Gln4004Leu) c.2165A>T (p.Gln722Leu) c.3367A>T c.1260+452A>T c.3182A>T n.186A>T c.11885A>T (p.Gln3962Leu) n.5814A>T c.12014A>T (p.Gln4005Leu) | |
2 | g.73601334G>A | CA426783575 | ALMS1 | c.11631G>A (p.Gln3877=) c.11167-851G>A (n.11167-851G>A) c.4717G>A c.8912G>A c.6078G>A (p.Gln2026=) c.9096G>A c.12012G>A (p.Gln4004=) c.2166G>A (p.Gln722=) c.3368G>A c.1260+453G>A c.3183G>A n.187G>A c.11886G>A (p.Gln3962=) n.5815G>A c.12015G>A (p.Gln4005=) | |
2 | g.73601334G>C | CA347266405 | ALMS1 | c.11631G>C (p.Gln3877His) c.11167-851G>C (n.11167-851G>C) c.4717G>C c.8912G>C c.6078G>C (p.Gln2026His) c.9096G>C c.12012G>C (p.Gln4004His) c.2166G>C (p.Gln722His) c.3368G>C c.1260+453G>C c.3183G>C n.187G>C c.11886G>C (p.Gln3962His) n.5815G>C c.12015G>C (p.Gln4005His) | |
2 | g.73601334G>T | CA347266408 | ALMS1 | c.11631G>T (p.Gln3877His) c.11167-851G>T (n.11167-851G>T) c.4717G>T c.8912G>T c.6078G>T (p.Gln2026His) c.9096G>T c.12012G>T (p.Gln4004His) c.2166G>T (p.Gln722His) c.3368G>T c.1260+453G>T c.3183G>T n.187G>T c.11886G>T (p.Gln3962His) n.5815G>T c.12015G>T (p.Gln4005His) | gnomAD v4 |
2 | g.73601335A>C | CA347266411 | ALMS1 | c.11632A>C (p.Asn3878His) c.11167-850A>C (n.11167-850A>C) c.4718A>C c.8913A>C c.6079A>C (p.Asn2027His) c.9097A>C c.12013A>C (p.Asn4005His) c.2167A>C (p.Asn723His) c.3369A>C c.1260+454A>C c.3184A>C n.188A>C c.11887A>C (p.Asn3963His) n.5816A>C c.12016A>C (p.Asn4006His) | |
2 | g.73601335A>G | CA347266413 | ALMS1 | c.11632A>G (p.Asn3878Asp) c.11167-850A>G (n.11167-850A>G) c.4718A>G c.8913A>G c.6079A>G (p.Asn2027Asp) c.9097A>G c.12013A>G (p.Asn4005Asp) c.2167A>G (p.Asn723Asp) c.3369A>G c.1260+454A>G c.3184A>G n.188A>G c.11887A>G (p.Asn3963Asp) n.5816A>G c.12016A>G (p.Asn4006Asp) | |
2 | g.73601335A>T | CA347266415 | ALMS1 | c.11632A>T (p.Asn3878Tyr) c.11167-850A>T (n.11167-850A>T) c.4718A>T c.8913A>T c.6079A>T (p.Asn2027Tyr) c.9097A>T c.12013A>T (p.Asn4005Tyr) c.2167A>T (p.Asn723Tyr) c.3369A>T c.1260+454A>T c.3184A>T n.188A>T c.11887A>T (p.Asn3963Tyr) n.5816A>T c.12016A>T (p.Asn4006Tyr) | |
2 | g.73601336A>C | CA347266418 | ALMS1 | c.11633A>C (p.Asn3878Thr) c.11167-849A>C (n.11167-849A>C) c.4719A>C c.8914A>C c.6080A>C (p.Asn2027Thr) c.9098A>C c.12014A>C (p.Asn4005Thr) c.2168A>C (p.Asn723Thr) c.3370A>C c.1260+455A>C c.3185A>C n.189A>C c.11888A>C (p.Asn3963Thr) n.5817A>C c.12017A>C (p.Asn4006Thr) | |
2 | g.73601336A>G | CA347266421 | ALMS1 | c.11633A>G (p.Asn3878Ser) c.11167-849A>G (n.11167-849A>G) c.4719A>G c.8914A>G c.6080A>G (p.Asn2027Ser) c.9098A>G c.12014A>G (p.Asn4005Ser) c.2168A>G (p.Asn723Ser) c.3370A>G c.1260+455A>G c.3185A>G n.189A>G c.11888A>G (p.Asn3963Ser) n.5817A>G c.12017A>G (p.Asn4006Ser) | |
2 | g.73601336A>T | CA347266423 | ALMS1 | c.11633A>T (p.Asn3878Ile) c.11167-849A>T (n.11167-849A>T) c.4719A>T c.8914A>T c.6080A>T (p.Asn2027Ile) c.9098A>T c.12014A>T (p.Asn4005Ile) c.2168A>T (p.Asn723Ile) c.3370A>T c.1260+455A>T c.3185A>T n.189A>T c.11888A>T (p.Asn3963Ile) n.5817A>T c.12017A>T (p.Asn4006Ile) | |
2 | g.73601337C>A | CA347266426 | ALMS1 | c.11634C>A (p.Asn3878Lys) c.11167-848C>A (n.11167-848C>A) c.4720C>A c.8915C>A c.6081C>A (p.Asn2027Lys) c.9099C>A c.12015C>A (p.Asn4005Lys) c.2169C>A (p.Asn723Lys) c.3371C>A c.1260+456C>A c.3186C>A n.190C>A c.11889C>A (p.Asn3963Lys) n.5818C>A c.12018C>A (p.Asn4006Lys) | |
2 | g.73601337C>G | CA347266430 | ALMS1 | c.11634C>G (p.Asn3878Lys) c.11167-848C>G (n.11167-848C>G) c.4720C>G c.8915C>G c.6081C>G (p.Asn2027Lys) c.9099C>G c.12015C>G (p.Asn4005Lys) c.2169C>G (p.Asn723Lys) c.3371C>G c.1260+456C>G c.3186C>G n.190C>G c.11889C>G (p.Asn3963Lys) n.5818C>G c.12018C>G (p.Asn4006Lys) | |
2 | g.73601337C>T | CA426783576 | ALMS1 | c.11634C>T (p.Asn3878=) c.11167-848C>T (n.11167-848C>T) c.4720C>T c.8915C>T c.6081C>T (p.Asn2027=) c.9099C>T c.12015C>T (p.Asn4005=) c.2169C>T (p.Asn723=) c.3371C>T c.1260+456C>T c.3186C>T n.190C>T c.11889C>T (p.Asn3963=) n.5818C>T c.12018C>T (p.Asn4006=) | |
2 | g.73601338T>A | CA347266432 | ALMS1 | c.11635T>A (p.Cys3879Ser) c.11167-847T>A (n.11167-847T>A) c.4721T>A c.8916T>A c.6082T>A (p.Cys2028Ser) c.9100T>A c.12016T>A (p.Cys4006Ser) c.2170T>A (p.Cys724Ser) c.3372T>A c.1260+457T>A c.3187T>A n.191T>A c.11890T>A (p.Cys3964Ser) n.5819T>A c.12019T>A (p.Cys4007Ser) | gnomAD v4 |
2 | g.73601338T>C | CA1715403 | ALMS1 | c.11635T>C (p.Cys3879Arg) c.11167-847T>C (n.11167-847T>C) c.4721T>C c.8916T>C c.6082T>C (p.Cys2028Arg) c.9100T>C c.12016T>C (p.Cys4006Arg) c.2170T>C (p.Cys724Arg) c.3372T>C c.1260+457T>C c.3187T>C n.191T>C c.11890T>C (p.Cys3964Arg) n.5819T>C c.12019T>C (p.Cys4007Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73601338T>G | CA347266437 | ALMS1 | c.11635T>G (p.Cys3879Gly) c.11167-847T>G (n.11167-847T>G) c.4721T>G c.8916T>G c.6082T>G (p.Cys2028Gly) c.9100T>G c.12016T>G (p.Cys4006Gly) c.2170T>G (p.Cys724Gly) c.3372T>G c.1260+457T>G c.3187T>G n.191T>G c.11890T>G (p.Cys3964Gly) n.5819T>G c.12019T>G (p.Cys4007Gly) | |
2 | g.73601338T= | CA1261033904 | ALMS1 | c.11635T= (p.Cys3879=) c.11167-847T= (n.11167-847T=) c.4721T= c.8916T= c.6082T= (p.Cys2028=) c.9100T= c.12016T= (p.Cys4006=) c.2170T= (p.Cys724=) c.3372T= c.1260+457T= c.3187T= n.191T= c.11890T= (p.Cys3964=) n.5819T= c.12019T= (p.Cys4007=) | |
2 | g.73601339G>A | CA50337373 | ALMS1 | c.11636G>A (p.Cys3879Tyr) c.11167-846G>A (n.11167-846G>A) c.4722G>A c.8917G>A c.6083G>A (p.Cys2028Tyr) c.9101G>A c.12017G>A (p.Cys4006Tyr) c.2171G>A (p.Cys724Tyr) c.3373G>A c.1260+458G>A c.3188G>A n.192G>A c.11891G>A (p.Cys3964Tyr) n.5820G>A c.12020G>A (p.Cys4007Tyr) | dbSNP gnomAD v4 |
2 | g.73601339G>C | CA347266462 | ALMS1 | c.11636G>C (p.Cys3879Ser) c.11167-846G>C (n.11167-846G>C) c.4722G>C c.8917G>C c.6083G>C (p.Cys2028Ser) c.9101G>C c.12017G>C (p.Cys4006Ser) c.2171G>C (p.Cys724Ser) c.3373G>C c.1260+458G>C c.3188G>C n.192G>C c.11891G>C (p.Cys3964Ser) n.5820G>C c.12020G>C (p.Cys4007Ser) | gnomAD v4 |
2 | g.73601339G= | CA1261033911 | ALMS1 | c.11636G= (p.Cys3879=) c.11167-846G= (n.11167-846G=) c.4722G= c.8917G= c.6083G= (p.Cys2028=) c.9101G= c.12017G= (p.Cys4006=) c.2171G= (p.Cys724=) c.3373G= c.1260+458G= c.3188G= n.192G= c.11891G= (p.Cys3964=) n.5820G= c.12020G= (p.Cys4007=) | |
2 | g.73601339G>T | CA347266459 | ALMS1 | c.11636G>T (p.Cys3879Phe) c.11167-846G>T (n.11167-846G>T) c.4722G>T c.8917G>T c.6083G>T (p.Cys2028Phe) c.9101G>T c.12017G>T (p.Cys4006Phe) c.2171G>T (p.Cys724Phe) c.3373G>T c.1260+458G>T c.3188G>T n.192G>T c.11891G>T (p.Cys3964Phe) n.5820G>T c.12020G>T (p.Cys4007Phe) | |
2 | g.73601340T>A | CA347266468 | ALMS1 | c.11637T>A (p.Cys3879Ter) c.11167-845T>A (n.11167-845T>A) c.4723T>A c.8918T>A c.6084T>A (p.Cys2028Ter) c.9102T>A c.12018T>A (p.Cys4006Ter) c.2172T>A (p.Cys724Ter) c.3374T>A c.1260+459T>A c.3189T>A n.193T>A c.11892T>A (p.Cys3964Ter) n.5821T>A c.12021T>A (p.Cys4007Ter) | |
2 | g.73601340T>C | CA426783577 | ALMS1 | c.11637T>C (p.Cys3879=) c.11167-845T>C (n.11167-845T>C) c.4723T>C c.8918T>C c.6084T>C (p.Cys2028=) c.9102T>C c.12018T>C (p.Cys4006=) c.2172T>C (p.Cys724=) c.3374T>C c.1260+459T>C c.3189T>C n.193T>C c.11892T>C (p.Cys3964=) n.5821T>C c.12021T>C (p.Cys4007=) | |
2 | g.73601340T>G | CA347266471 | ALMS1 | c.11637T>G (p.Cys3879Trp) c.11167-845T>G (n.11167-845T>G) c.4723T>G c.8918T>G c.6084T>G (p.Cys2028Trp) c.9102T>G c.12018T>G (p.Cys4006Trp) c.2172T>G (p.Cys724Trp) c.3374T>G c.1260+459T>G c.3189T>G n.193T>G c.11892T>G (p.Cys3964Trp) n.5821T>G c.12021T>G (p.Cys4007Trp) | |
2 | g.73601341C>A | CA347266476 | ALMS1 | c.11638C>A (p.Gln3880Lys) c.11167-844C>A (n.11167-844C>A) c.4724C>A c.8919C>A c.6085C>A (p.Gln2029Lys) c.9103C>A c.12019C>A (p.Gln4007Lys) c.2173C>A (p.Gln725Lys) c.3375C>A c.1260+460C>A c.3190C>A n.194C>A c.11893C>A (p.Gln3965Lys) n.5822C>A c.12022C>A (p.Gln4008Lys) | |
2 | g.73601341C>G | CA347266479 | ALMS1 | c.11638C>G (p.Gln3880Glu) c.11167-844C>G (n.11167-844C>G) c.4724C>G c.8919C>G c.6085C>G (p.Gln2029Glu) c.9103C>G c.12019C>G (p.Gln4007Glu) c.2173C>G (p.Gln725Glu) c.3375C>G c.1260+460C>G c.3190C>G n.194C>G c.11893C>G (p.Gln3965Glu) n.5822C>G c.12022C>G (p.Gln4008Glu) | gnomAD v4 |
2 | g.73601341C>T | CA347266482 | ALMS1 | c.11638C>T (p.Gln3880Ter) c.11167-844C>T (n.11167-844C>T) c.4724C>T c.8919C>T c.6085C>T (p.Gln2029Ter) c.9103C>T c.12019C>T (p.Gln4007Ter) c.2173C>T (p.Gln725Ter) c.3375C>T c.1260+460C>T c.3190C>T n.194C>T c.11893C>T (p.Gln3965Ter) n.5822C>T c.12022C>T (p.Gln4008Ter) | |
2 | g.73601342del | CA2740095645 | ALMS1 | c.11639del (p.Gln3880ArgfsTer23) c.11167-843del (n.11167-843del) c.4725del c.8920del c.6086del (p.Gln2029ArgfsTer23) c.9104del c.12020del (p.Gln4007ArgfsTer23) c.2174del (p.Gln725ArgfsTer23) c.3376del c.1260+461del c.3191del n.195del c.11894del (p.Gln3965ArgfsTer23) n.5823del c.12023del (p.Gln4008ArgfsTer23) | ClinVar |
2 | g.73601342A>C | CA347266485 | ALMS1 | c.11639A>C (p.Gln3880Pro) c.11167-843A>C (n.11167-843A>C) c.4725A>C c.8920A>C c.6086A>C (p.Gln2029Pro) c.9104A>C c.12020A>C (p.Gln4007Pro) c.2174A>C (p.Gln725Pro) c.3376A>C c.1260+461A>C c.3191A>C n.195A>C c.11894A>C (p.Gln3965Pro) n.5823A>C c.12023A>C (p.Gln4008Pro) | |
2 | g.73601342A>G | CA347266488 | ALMS1 | c.11639A>G (p.Gln3880Arg) c.11167-843A>G (n.11167-843A>G) c.4725A>G c.8920A>G c.6086A>G (p.Gln2029Arg) c.9104A>G c.12020A>G (p.Gln4007Arg) c.2174A>G (p.Gln725Arg) c.3376A>G c.1260+461A>G c.3191A>G n.195A>G c.11894A>G (p.Gln3965Arg) n.5823A>G c.12023A>G (p.Gln4008Arg) | |
2 | g.73601342A>T | CA347266490 | ALMS1 | c.11639A>T (p.Gln3880Leu) c.11167-843A>T (n.11167-843A>T) c.4725A>T c.8920A>T c.6086A>T (p.Gln2029Leu) c.9104A>T c.12020A>T (p.Gln4007Leu) c.2174A>T (p.Gln725Leu) c.3376A>T c.1260+461A>T c.3191A>T n.195A>T c.11894A>T (p.Gln3965Leu) n.5823A>T c.12023A>T (p.Gln4008Leu) | |
2 | g.73601343G>A | CA426783578 | ALMS1 | c.11640G>A (p.Gln3880=) c.11167-842G>A (n.11167-842G>A) c.4726G>A c.8921G>A c.6087G>A (p.Gln2029=) c.9105G>A c.12021G>A (p.Gln4007=) c.2175G>A (p.Gln725=) c.3377G>A c.1260+462G>A c.3192G>A n.196G>A c.11895G>A (p.Gln3965=) n.5824G>A c.12024G>A (p.Gln4008=) | |
2 | g.73601343G>C | CA347266493 | ALMS1 | c.11640G>C (p.Gln3880His) c.11167-842G>C (n.11167-842G>C) c.4726G>C c.8921G>C c.6087G>C (p.Gln2029His) c.9105G>C c.12021G>C (p.Gln4007His) c.2175G>C (p.Gln725His) c.3377G>C c.1260+462G>C c.3192G>C n.196G>C c.11895G>C (p.Gln3965His) n.5824G>C c.12024G>C (p.Gln4008His) | |
2 | g.73601343G>T | CA347266496 | ALMS1 | c.11640G>T (p.Gln3880His) c.11167-842G>T (n.11167-842G>T) c.4726G>T c.8921G>T c.6087G>T (p.Gln2029His) c.9105G>T c.12021G>T (p.Gln4007His) c.2175G>T (p.Gln725His) c.3377G>T c.1260+462G>T c.3192G>T n.196G>T c.11895G>T (p.Gln3965His) n.5824G>T c.12024G>T (p.Gln4008His) | |
2 | g.73601344G>A | CA347266505 | ALMS1 | c.11641G>A (p.Gly3881Arg) c.11167-841G>A (n.11167-841G>A) c.4727G>A c.8922G>A c.6088G>A (p.Gly2030Arg) c.9106G>A c.12022G>A (p.Gly4008Arg) c.2176G>A (p.Gly726Arg) c.3378G>A c.1260+463G>A c.3193G>A n.197G>A c.11896G>A (p.Gly3966Arg) n.5825G>A c.12025G>A (p.Gly4009Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73601344G>C | CA347266510 | ALMS1 | c.11641G>C (p.Gly3881Arg) c.11167-841G>C (n.11167-841G>C) c.4727G>C c.8922G>C c.6088G>C (p.Gly2030Arg) c.9106G>C c.12022G>C (p.Gly4008Arg) c.2176G>C (p.Gly726Arg) c.3378G>C c.1260+463G>C c.3193G>C n.197G>C c.11896G>C (p.Gly3966Arg) n.5825G>C c.12025G>C (p.Gly4009Arg) | ClinVar |
2 | g.73601344G= | CA1261033915 | ALMS1 | c.11641G= (p.Gly3881=) c.11167-841G= (n.11167-841G=) c.4727G= c.8922G= c.6088G= (p.Gly2030=) c.9106G= c.12022G= (p.Gly4008=) c.2176G= (p.Gly726=) c.3378G= c.1260+463G= c.3193G= n.197G= c.11896G= (p.Gly3966=) n.5825G= c.12025G= (p.Gly4009=) | |
2 | g.73601344G>T | CA347266502 | ALMS1 | c.11641G>T (p.Gly3881Trp) c.11167-841G>T (n.11167-841G>T) c.4727G>T c.8922G>T c.6088G>T (p.Gly2030Trp) c.9106G>T c.12022G>T (p.Gly4008Trp) c.2176G>T (p.Gly726Trp) c.3378G>T c.1260+463G>T c.3193G>T n.197G>T c.11896G>T (p.Gly3966Trp) n.5825G>T c.12025G>T (p.Gly4009Trp) | |
2 | g.73601345G>A | CA347266519 | ALMS1 | c.11642G>A (p.Gly3881Glu) c.11167-840G>A (n.11167-840G>A) c.4728G>A c.8923G>A c.6089G>A (p.Gly2030Glu) c.9107G>A c.12023G>A (p.Gly4008Glu) c.2177G>A (p.Gly726Glu) c.3379G>A c.1260+464G>A c.3194G>A n.198G>A c.11897G>A (p.Gly3966Glu) n.5826G>A c.12026G>A (p.Gly4009Glu) | |
2 | g.73601345G>C | CA347266515 | ALMS1 | c.11642G>C (p.Gly3881Ala) c.11167-840G>C (n.11167-840G>C) c.4728G>C c.8923G>C c.6089G>C (p.Gly2030Ala) c.9107G>C c.12023G>C (p.Gly4008Ala) c.2177G>C (p.Gly726Ala) c.3379G>C c.1260+464G>C c.3194G>C n.198G>C c.11897G>C (p.Gly3966Ala) n.5826G>C c.12026G>C (p.Gly4009Ala) | gnomAD v4 |
2 | g.73601345G>T | CA347266518 | ALMS1 | c.11642G>T (p.Gly3881Val) c.11167-840G>T (n.11167-840G>T) c.4728G>T c.8923G>T c.6089G>T (p.Gly2030Val) c.9107G>T c.12023G>T (p.Gly4008Val) c.2177G>T (p.Gly726Val) c.3379G>T c.1260+464G>T c.3194G>T n.198G>T c.11897G>T (p.Gly3966Val) n.5826G>T c.12026G>T (p.Gly4009Val) | |
2 | g.73601346G>A | CA1715404 | ALMS1 | c.11643G>A (p.Gly3881=) c.11167-839G>A (n.11167-839G>A) c.4729G>A c.8924G>A c.6090G>A (p.Gly2030=) c.9108G>A c.12024G>A (p.Gly4008=) c.2178G>A (p.Gly726=) c.3380G>A c.1260+465G>A c.3195G>A n.199G>A c.11898G>A (p.Gly3966=) n.5827G>A c.12027G>A (p.Gly4009=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73601346G>C | CA426783580 | ALMS1 | c.11643G>C (p.Gly3881=) c.11167-839G>C (n.11167-839G>C) c.4729G>C c.8924G>C c.6090G>C (p.Gly2030=) c.9108G>C c.12024G>C (p.Gly4008=) c.2178G>C (p.Gly726=) c.3380G>C c.1260+465G>C c.3195G>C n.199G>C c.11898G>C (p.Gly3966=) n.5827G>C c.12027G>C (p.Gly4009=) | |
2 | g.73601346G= | CA1261033917 | ALMS1 | c.11643G= (p.Gly3881=) c.11167-839G= (n.11167-839G=) c.4729G= c.8924G= c.6090G= (p.Gly2030=) c.9108G= c.12024G= (p.Gly4008=) c.2178G= (p.Gly726=) c.3380G= c.1260+465G= c.3195G= n.199G= c.11898G= (p.Gly3966=) n.5827G= c.12027G= (p.Gly4009=) | |
2 | g.73601346G>T | CA426783579 | ALMS1 | c.11643G>T (p.Gly3881=) c.11167-839G>T (n.11167-839G>T) c.4729G>T c.8924G>T c.6090G>T (p.Gly2030=) c.9108G>T c.12024G>T (p.Gly4008=) c.2178G>T (p.Gly726=) c.3380G>T c.1260+465G>T c.3195G>T n.199G>T c.11898G>T (p.Gly3966=) n.5827G>T c.12027G>T (p.Gly4009=) | |
2 | g.73601347C>A | CA347266529 | ALMS1 | c.11644C>A (p.Gln3882Lys) c.11167-838C>A (n.11167-838C>A) c.4730C>A c.8925C>A c.6091C>A (p.Gln2031Lys) c.9109C>A c.12025C>A (p.Gln4009Lys) c.2179C>A (p.Gln727Lys) c.3381C>A c.1260+466C>A c.3196C>A n.200C>A c.11899C>A (p.Gln3967Lys) n.5828C>A c.12028C>A (p.Gln4010Lys) | |
2 | g.73601347C>G | CA347266532 | ALMS1 | c.11644C>G (p.Gln3882Glu) c.11167-838C>G (n.11167-838C>G) c.4730C>G c.8925C>G c.6091C>G (p.Gln2031Glu) c.9109C>G c.12025C>G (p.Gln4009Glu) c.2179C>G (p.Gln727Glu) c.3381C>G c.1260+466C>G c.3196C>G n.200C>G c.11899C>G (p.Gln3967Glu) n.5828C>G c.12028C>G (p.Gln4010Glu) | |
2 | g.73601347C>T | CA347266535 | ALMS1 | c.11644C>T (p.Gln3882Ter) c.11167-838C>T (n.11167-838C>T) c.4730C>T c.8925C>T c.6091C>T (p.Gln2031Ter) c.9109C>T c.12025C>T (p.Gln4009Ter) c.2179C>T (p.Gln727Ter) c.3381C>T c.1260+466C>T c.3196C>T n.200C>T c.11899C>T (p.Gln3967Ter) n.5828C>T c.12028C>T (p.Gln4010Ter) | dbSNP |
2 | g.73601348A>C | CA347266545 | ALMS1 | c.11645A>C (p.Gln3882Pro) c.11167-837A>C (n.11167-837A>C) c.4731A>C c.8926A>C c.6092A>C (p.Gln2031Pro) c.9110A>C c.12026A>C (p.Gln4009Pro) c.2180A>C (p.Gln727Pro) c.3382A>C c.1260+467A>C c.3197A>C n.201A>C c.11900A>C (p.Gln3967Pro) n.5829A>C c.12029A>C (p.Gln4010Pro) | dbSNP |
2 | g.73601348A>G | CA347266539 | ALMS1 | c.11645A>G (p.Gln3882Arg) c.11167-837A>G (n.11167-837A>G) c.4731A>G c.8926A>G c.6092A>G (p.Gln2031Arg) c.9110A>G c.12026A>G (p.Gln4009Arg) c.2180A>G (p.Gln727Arg) c.3382A>G c.1260+467A>G c.3197A>G n.201A>G c.11900A>G (p.Gln3967Arg) n.5829A>G c.12029A>G (p.Gln4010Arg) | |
2 | g.73601348A>T | CA347266542 | ALMS1 | c.11645A>T (p.Gln3882Leu) c.11167-837A>T (n.11167-837A>T) c.4731A>T c.8926A>T c.6092A>T (p.Gln2031Leu) c.9110A>T c.12026A>T (p.Gln4009Leu) c.2180A>T (p.Gln727Leu) c.3382A>T c.1260+467A>T c.3197A>T n.201A>T c.11900A>T (p.Gln3967Leu) n.5829A>T c.12029A>T (p.Gln4010Leu) | |
2 | g.73601349G>A | CA426783581 | ALMS1 | c.11646G>A (p.Gln3882=) c.11167-836G>A (n.11167-836G>A) c.4732G>A c.8927G>A c.6093G>A (p.Gln2031=) c.9111G>A c.12027G>A (p.Gln4009=) c.2181G>A (p.Gln727=) c.3383G>A c.1260+468G>A c.3198G>A n.202G>A c.11901G>A (p.Gln3967=) n.5830G>A c.12030G>A (p.Gln4010=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.73601349G>C | CA347266549 | ALMS1 | c.11646G>C (p.Gln3882His) c.11167-836G>C (n.11167-836G>C) c.4732G>C c.8927G>C c.6093G>C (p.Gln2031His) c.9111G>C c.12027G>C (p.Gln4009His) c.2181G>C (p.Gln727His) c.3383G>C c.1260+468G>C c.3198G>C n.202G>C c.11901G>C (p.Gln3967His) n.5830G>C c.12030G>C (p.Gln4010His) | |
2 | g.73601349G= | CA1261033919 | ALMS1 | c.11646G= (p.Gln3882=) c.11167-836G= (n.11167-836G=) c.4732G= c.8927G= c.6093G= (p.Gln2031=) c.9111G= c.12027G= (p.Gln4009=) c.2181G= (p.Gln727=) c.3383G= c.1260+468G= c.3198G= n.202G= c.11901G= (p.Gln3967=) n.5830G= c.12030G= (p.Gln4010=) | |
2 | g.73601349G>T | CA347266552 | ALMS1 | c.11646G>T (p.Gln3882His) c.11167-836G>T (n.11167-836G>T) c.4732G>T c.8927G>T c.6093G>T (p.Gln2031His) c.9111G>T c.12027G>T (p.Gln4009His) c.2181G>T (p.Gln727His) c.3383G>T c.1260+468G>T c.3198G>T n.202G>T c.11901G>T (p.Gln3967His) n.5830G>T c.12030G>T (p.Gln4010His) | |
2 | g.73601350C>A | CA347266555 | ALMS1 | c.11647C>A (p.His3883Asn) c.11167-835C>A (n.11167-835C>A) c.4733C>A c.8928C>A c.6094C>A (p.His2032Asn) c.9112C>A c.12028C>A (p.His4010Asn) c.2182C>A (p.His728Asn) c.3384C>A c.1260+469C>A c.3199C>A n.203C>A c.11902C>A (p.His3968Asn) n.5831C>A c.12031C>A (p.His4011Asn) | |
2 | g.73601350C>G | CA347266559 | ALMS1 | c.11647C>G (p.His3883Asp) c.11167-835C>G (n.11167-835C>G) c.4733C>G c.8928C>G c.6094C>G (p.His2032Asp) c.9112C>G c.12028C>G (p.His4010Asp) c.2182C>G (p.His728Asp) c.3384C>G c.1260+469C>G c.3199C>G n.203C>G c.11902C>G (p.His3968Asp) n.5831C>G c.12031C>G (p.His4011Asp) | gnomAD v4 |
2 | g.73601350C>T | CA347266561 | ALMS1 | c.11647C>T (p.His3883Tyr) c.11167-835C>T (n.11167-835C>T) c.4733C>T c.8928C>T c.6094C>T (p.His2032Tyr) c.9112C>T c.12028C>T (p.His4010Tyr) c.2182C>T (p.His728Tyr) c.3384C>T c.1260+469C>T c.3199C>T n.203C>T c.11902C>T (p.His3968Tyr) n.5831C>T c.12031C>T (p.His4011Tyr) | gnomAD v4 |
2 | g.73601351A>C | CA347266568 | ALMS1 | c.11648A>C (p.His3883Pro) c.11167-834A>C (n.11167-834A>C) c.4734A>C c.8929A>C c.6095A>C (p.His2032Pro) c.9113A>C c.12029A>C (p.His4010Pro) c.2183A>C (p.His728Pro) c.3385A>C c.1260+470A>C c.3200A>C n.204A>C c.11903A>C (p.His3968Pro) n.5832A>C c.12032A>C (p.His4011Pro) | |
2 | g.73601351A>G | CA347266574 | ALMS1 | c.11648A>G (p.His3883Arg) c.11167-834A>G (n.11167-834A>G) c.4734A>G c.8929A>G c.6095A>G (p.His2032Arg) c.9113A>G c.12029A>G (p.His4010Arg) c.2183A>G (p.His728Arg) c.3385A>G c.1260+470A>G c.3200A>G n.204A>G c.11903A>G (p.His3968Arg) n.5832A>G c.12032A>G (p.His4011Arg) | |
2 | g.73601351A>T | CA347266570 | ALMS1 | c.11648A>T (p.His3883Leu) c.11167-834A>T (n.11167-834A>T) c.4734A>T c.8929A>T c.6095A>T (p.His2032Leu) c.9113A>T c.12029A>T (p.His4010Leu) c.2183A>T (p.His728Leu) c.3385A>T c.1260+470A>T c.3200A>T n.204A>T c.11903A>T (p.His3968Leu) n.5832A>T c.12032A>T (p.His4011Leu) | |
2 | g.73601352C>A | CA347266579 | ALMS1 | c.11649C>A (p.His3883Gln) c.11167-833C>A (n.11167-833C>A) c.4735C>A c.8930C>A c.6096C>A (p.His2032Gln) c.9114C>A c.12030C>A (p.His4010Gln) c.2184C>A (p.His728Gln) c.3386C>A c.1260+471C>A c.3201C>A n.205C>A c.11904C>A (p.His3968Gln) n.5833C>A c.12033C>A (p.His4011Gln) | |
2 | g.73601352C>G | CA347266581 | ALMS1 | c.11649C>G (p.His3883Gln) c.11167-833C>G (n.11167-833C>G) c.4735C>G c.8930C>G c.6096C>G (p.His2032Gln) c.9114C>G c.12030C>G (p.His4010Gln) c.2184C>G (p.His728Gln) c.3386C>G c.1260+471C>G c.3201C>G n.205C>G c.11904C>G (p.His3968Gln) n.5833C>G c.12033C>G (p.His4011Gln) | ClinVar gnomAD v4 |
2 | g.73601352C>T | CA426783582 | ALMS1 | c.11649C>T (p.His3883=) c.11167-833C>T (n.11167-833C>T) c.4735C>T c.8930C>T c.6096C>T (p.His2032=) c.9114C>T c.12030C>T (p.His4010=) c.2184C>T (p.His728=) c.3386C>T c.1260+471C>T c.3201C>T n.205C>T c.11904C>T (p.His3968=) n.5833C>T c.12033C>T (p.His4011=) | ClinVar |
2 | g.73601353del | CA2586969572 | ALMS1 | c.11650del (p.Leu3884TrpfsTer19) c.11167-832del (n.11167-832del) c.4736del c.8931del c.6097del (p.Leu2033TrpfsTer19) c.9115del c.12031del (p.Leu4011TrpfsTer19) c.2185del (p.Leu729TrpfsTer19) c.3387del c.1260+472del c.3202del n.206del c.11905del (p.Leu3969TrpfsTer19) n.5834del c.12034del (p.Leu4012TrpfsTer19) | |
2 | g.73601353C>A | CA347266586 | ALMS1 | c.11650C>A (p.Leu3884Met) c.11167-832C>A (n.11167-832C>A) c.4736C>A c.8931C>A c.6097C>A (p.Leu2033Met) c.9115C>A c.12031C>A (p.Leu4011Met) c.2185C>A (p.Leu729Met) c.3387C>A c.1260+472C>A c.3202C>A n.206C>A c.11905C>A (p.Leu3969Met) n.5834C>A c.12034C>A (p.Leu4012Met) | |
2 | g.73601353C= | CA1261033922 | ALMS1 | c.11650C= (p.Leu3884=) c.11167-832C= (n.11167-832C=) c.4736C= c.8931C= c.6097C= (p.Leu2033=) c.9115C= c.12031C= (p.Leu4011=) c.2185C= (p.Leu729=) c.3387C= c.1260+472C= c.3202C= n.206C= c.11905C= (p.Leu3969=) n.5834C= c.12034C= (p.Leu4012=) | |
2 | g.73601353C>G | CA347266589 | ALMS1 | c.11650C>G (p.Leu3884Val) c.11167-832C>G (n.11167-832C>G) c.4736C>G c.8931C>G c.6097C>G (p.Leu2033Val) c.9115C>G c.12031C>G (p.Leu4011Val) c.2185C>G (p.Leu729Val) c.3387C>G c.1260+472C>G c.3202C>G n.206C>G c.11905C>G (p.Leu3969Val) n.5834C>G c.12034C>G (p.Leu4012Val) | |
2 | g.73601353C>T | CA426783583 | ALMS1 | c.11650C>T (p.Leu3884=) c.11167-832C>T (n.11167-832C>T) c.4736C>T c.8931C>T c.6097C>T (p.Leu2033=) c.9115C>T c.12031C>T (p.Leu4011=) c.2185C>T (p.Leu729=) c.3387C>T c.1260+472C>T c.3202C>T n.206C>T c.11905C>T (p.Leu3969=) n.5834C>T c.12034C>T (p.Leu4012=) | ClinVar dbSNP gnomAD v4 |
2 | g.73601354T>A | CA347266593 | ALMS1 | c.11651T>A (p.Leu3884Gln) c.11167-831T>A (n.11167-831T>A) c.4737T>A c.8932T>A c.6098T>A (p.Leu2033Gln) c.9116T>A c.12032T>A (p.Leu4011Gln) c.2186T>A (p.Leu729Gln) c.3388T>A c.1260+473T>A c.3203T>A n.207T>A c.11906T>A (p.Leu3969Gln) n.5835T>A c.12035T>A (p.Leu4012Gln) | |
2 | g.73601354T>C | CA347266595 | ALMS1 | c.11651T>C (p.Leu3884Pro) c.11167-831T>C (n.11167-831T>C) c.4737T>C c.8932T>C c.6098T>C (p.Leu2033Pro) c.9116T>C c.12032T>C (p.Leu4011Pro) c.2186T>C (p.Leu729Pro) c.3388T>C c.1260+473T>C c.3203T>C n.207T>C c.11906T>C (p.Leu3969Pro) n.5835T>C c.12035T>C (p.Leu4012Pro) | gnomAD v4 |
2 | g.73601354T>G | CA347266598 | ALMS1 | c.11651T>G (p.Leu3884Arg) c.11167-831T>G (n.11167-831T>G) c.4737T>G c.8932T>G c.6098T>G (p.Leu2033Arg) c.9116T>G c.12032T>G (p.Leu4011Arg) c.2186T>G (p.Leu729Arg) c.3388T>G c.1260+473T>G c.3203T>G n.207T>G c.11906T>G (p.Leu3969Arg) n.5835T>G c.12035T>G (p.Leu4012Arg) | |
2 | g.73601355G>A | CA426783584 | ALMS1 | c.11652G>A (p.Leu3884=) c.11167-830G>A (n.11167-830G>A) c.4738G>A c.8933G>A c.6099G>A (p.Leu2033=) c.9117G>A c.12033G>A (p.Leu4011=) c.2187G>A (p.Leu729=) c.3389G>A c.1260+474G>A c.3204G>A n.208G>A c.11907G>A (p.Leu3969=) n.5836G>A c.12036G>A (p.Leu4012=) | |
2 | g.73601355G>C | CA426783585 | ALMS1 | c.11652G>C (p.Leu3884=) c.11167-830G>C (n.11167-830G>C) c.4738G>C c.8933G>C c.6099G>C (p.Leu2033=) c.9117G>C c.12033G>C (p.Leu4011=) c.2187G>C (p.Leu729=) c.3389G>C c.1260+474G>C c.3204G>C n.208G>C c.11907G>C (p.Leu3969=) n.5836G>C c.12036G>C (p.Leu4012=) | |
2 | g.73601355G>T | CA426783586 | ALMS1 | c.11652G>T (p.Leu3884=) c.11167-830G>T (n.11167-830G>T) c.4738G>T c.8933G>T c.6099G>T (p.Leu2033=) c.9117G>T c.12033G>T (p.Leu4011=) c.2187G>T (p.Leu729=) c.3389G>T c.1260+474G>T c.3204G>T n.208G>T c.11907G>T (p.Leu3969=) n.5836G>T c.12036G>T (p.Leu4012=) | |
2 | g.73601356G>A | CA347266603 | ALMS1 | c.11653G>A (p.Asp3885Asn) c.11167-829G>A (n.11167-829G>A) c.4739G>A c.8934G>A c.6100G>A (p.Asp2034Asn) c.9118G>A c.12034G>A (p.Asp4012Asn) c.2188G>A (p.Asp730Asn) c.3390G>A c.1260+475G>A c.3205G>A n.209G>A c.11908G>A (p.Asp3970Asn) n.5837G>A c.12037G>A (p.Asp4013Asn) | |
2 | g.73601356G>C | CA347266607 | ALMS1 | c.11653G>C (p.Asp3885His) c.11167-829G>C (n.11167-829G>C) c.4739G>C c.8934G>C c.6100G>C (p.Asp2034His) c.9118G>C c.12034G>C (p.Asp4012His) c.2188G>C (p.Asp730His) c.3390G>C c.1260+475G>C c.3205G>C n.209G>C c.11908G>C (p.Asp3970His) n.5837G>C c.12037G>C (p.Asp4013His) | |
2 | g.73601356G>T | CA347266611 | ALMS1 | c.11653G>T (p.Asp3885Tyr) c.11167-829G>T (n.11167-829G>T) c.4739G>T c.8934G>T c.6100G>T (p.Asp2034Tyr) c.9118G>T c.12034G>T (p.Asp4012Tyr) c.2188G>T (p.Asp730Tyr) c.3390G>T c.1260+475G>T c.3205G>T n.209G>T c.11908G>T (p.Asp3970Tyr) n.5837G>T c.12037G>T (p.Asp4013Tyr) | |
2 | g.73601357A>C | CA347266621 | ALMS1 | c.11654A>C (p.Asp3885Ala) c.11167-828A>C (n.11167-828A>C) c.4740A>C c.8935A>C c.6101A>C (p.Asp2034Ala) c.9119A>C c.12035A>C (p.Asp4012Ala) c.2189A>C (p.Asp730Ala) c.3391A>C c.1260+476A>C c.3206A>C n.210A>C c.11909A>C (p.Asp3970Ala) n.5838A>C c.12038A>C (p.Asp4013Ala) | |
2 | g.73601357A>G | CA347266617 | ALMS1 | c.11654A>G (p.Asp3885Gly) c.11167-828A>G (n.11167-828A>G) c.4740A>G c.8935A>G c.6101A>G (p.Asp2034Gly) c.9119A>G c.12035A>G (p.Asp4012Gly) c.2189A>G (p.Asp730Gly) c.3391A>G c.1260+476A>G c.3206A>G n.210A>G c.11909A>G (p.Asp3970Gly) n.5838A>G c.12038A>G (p.Asp4013Gly) | |
2 | g.73601357A>T | CA347266614 | ALMS1 | c.11654A>T (p.Asp3885Val) c.11167-828A>T (n.11167-828A>T) c.4740A>T c.8935A>T c.6101A>T (p.Asp2034Val) c.9119A>T c.12035A>T (p.Asp4012Val) c.2189A>T (p.Asp730Val) c.3391A>T c.1260+476A>T c.3206A>T n.210A>T c.11909A>T (p.Asp3970Val) n.5838A>T c.12038A>T (p.Asp4013Val) | |
2 | g.73601358C>A | CA1715406 | ALMS1 | c.11655C>A (p.Asp3885Glu) c.11167-827C>A (n.11167-827C>A) c.4741C>A c.8936C>A c.6102C>A (p.Asp2034Glu) c.9120C>A c.12036C>A (p.Asp4012Glu) c.2190C>A (p.Asp730Glu) c.3392C>A c.1260+477C>A c.3207C>A n.211C>A c.11910C>A (p.Asp3970Glu) n.5839C>A c.12039C>A (p.Asp4013Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73601358C= | CA1261033931 | ALMS1 | c.11655C= (p.Asp3885=) c.11167-827C= (n.11167-827C=) c.4741C= c.8936C= c.6102C= (p.Asp2034=) c.9120C= c.12036C= (p.Asp4012=) c.2190C= (p.Asp730=) c.3392C= c.1260+477C= c.3207C= n.211C= c.11910C= (p.Asp3970=) n.5839C= c.12039C= (p.Asp4013=) | |
2 | g.73601358C>G | CA347266637 | ALMS1 | c.11655C>G (p.Asp3885Glu) c.11167-827C>G (n.11167-827C>G) c.4741C>G c.8936C>G c.6102C>G (p.Asp2034Glu) c.9120C>G c.12036C>G (p.Asp4012Glu) c.2190C>G (p.Asp730Glu) c.3392C>G c.1260+477C>G c.3207C>G n.211C>G c.11910C>G (p.Asp3970Glu) n.5839C>G c.12039C>G (p.Asp4013Glu) | gnomAD v4 |
2 | g.73601358C>T | CA1715405 | ALMS1 | c.11655C>T (p.Asp3885=) c.11167-827C>T (n.11167-827C>T) c.4741C>T c.8936C>T c.6102C>T (p.Asp2034=) c.9120C>T c.12036C>T (p.Asp4012=) c.2190C>T (p.Asp730=) c.3392C>T c.1260+477C>T c.3207C>T n.211C>T c.11910C>T (p.Asp3970=) n.5839C>T c.12039C>T (p.Asp4013=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73601359G>A | CA1715407 | ALMS1 | c.11656G>A (p.Gly3886Ser) c.11167-826G>A (n.11167-826G>A) c.4742G>A c.8937G>A c.6103G>A (p.Gly2035Ser) c.9121G>A c.12037G>A (p.Gly4013Ser) c.2191G>A (p.Gly731Ser) c.3393G>A c.1260+478G>A c.3208G>A n.212G>A c.11911G>A (p.Gly3971Ser) n.5840G>A c.12040G>A (p.Gly4014Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73601359G>C | CA347266649 | ALMS1 | c.11656G>C (p.Gly3886Arg) c.11167-826G>C (n.11167-826G>C) c.4742G>C c.8937G>C c.6103G>C (p.Gly2035Arg) c.9121G>C c.12037G>C (p.Gly4013Arg) c.2191G>C (p.Gly731Arg) c.3393G>C c.1260+478G>C c.3208G>C n.212G>C c.11911G>C (p.Gly3971Arg) n.5840G>C c.12040G>C (p.Gly4014Arg) | |
2 | g.73601359G= | CA1261033936 | ALMS1 | c.11656G= (p.Gly3886=) c.11167-826G= (n.11167-826G=) c.4742G= c.8937G= c.6103G= (p.Gly2035=) c.9121G= c.12037G= (p.Gly4013=) c.2191G= (p.Gly731=) c.3393G= c.1260+478G= c.3208G= n.212G= c.11911G= (p.Gly3971=) n.5840G= c.12040G= (p.Gly4014=) | |
2 | g.73601359G>T | CA347266654 | ALMS1 | c.11656G>T (p.Gly3886Cys) c.11167-826G>T (n.11167-826G>T) c.4742G>T c.8937G>T c.6103G>T (p.Gly2035Cys) c.9121G>T c.12037G>T (p.Gly4013Cys) c.2191G>T (p.Gly731Cys) c.3393G>T c.1260+478G>T c.3208G>T n.212G>T c.11911G>T (p.Gly3971Cys) n.5840G>T c.12040G>T (p.Gly4014Cys) | |
2 | g.73601360G>A | CA1715408 | ALMS1 | c.11657G>A (p.Gly3886Asp) c.11167-825G>A (n.11167-825G>A) c.4743G>A c.8938G>A c.6104G>A (p.Gly2035Asp) c.9122G>A c.12038G>A (p.Gly4013Asp) c.2192G>A (p.Gly731Asp) c.3394G>A c.1260+479G>A c.3209G>A n.213G>A c.11912G>A (p.Gly3971Asp) n.5841G>A c.12041G>A (p.Gly4014Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73601360G>C | CA347266658 | ALMS1 | c.11657G>C (p.Gly3886Ala) c.11167-825G>C (n.11167-825G>C) c.4743G>C c.8938G>C c.6104G>C (p.Gly2035Ala) c.9122G>C c.12038G>C (p.Gly4013Ala) c.2192G>C (p.Gly731Ala) c.3394G>C c.1260+479G>C c.3209G>C n.213G>C c.11912G>C (p.Gly3971Ala) n.5841G>C c.12041G>C (p.Gly4014Ala) | |
2 | g.73601360G= | CA1261033941 | ALMS1 | c.11657G= (p.Gly3886=) c.11167-825G= (n.11167-825G=) c.4743G= c.8938G= c.6104G= (p.Gly2035=) c.9122G= c.12038G= (p.Gly4013=) c.2192G= (p.Gly731=) c.3394G= c.1260+479G= c.3209G= n.213G= c.11912G= (p.Gly3971=) n.5841G= c.12041G= (p.Gly4014=) | |
2 | g.73601360G>T | CA347266659 | ALMS1 | c.11657G>T (p.Gly3886Val) c.11167-825G>T (n.11167-825G>T) c.4743G>T c.8938G>T c.6104G>T (p.Gly2035Val) c.9122G>T c.12038G>T (p.Gly4013Val) c.2192G>T (p.Gly731Val) c.3394G>T c.1260+479G>T c.3209G>T n.213G>T c.11912G>T (p.Gly3971Val) n.5841G>T c.12041G>T (p.Gly4014Val) | |
2 | g.73601361del | CA2577005281 | ALMS1 | c.11658del (p.Arg3887GlyfsTer16) c.11167-824del (n.11167-824del) c.4744del c.8939del c.6105del (p.Arg2036GlyfsTer16) c.9123del c.12039del (p.Arg4014GlyfsTer16) c.2193del (p.Arg732GlyfsTer16) c.3395del c.1260+480del c.3210del n.214del c.11913del (p.Arg3972GlyfsTer16) n.5842del c.12042del (p.Arg4015GlyfsTer16) | |
2 | g.73601361T>A | CA426783589 | ALMS1 | c.11658T>A (p.Gly3886=) c.11167-824T>A (n.11167-824T>A) c.4744T>A c.8939T>A c.6105T>A (p.Gly2035=) c.9123T>A c.12039T>A (p.Gly4013=) c.2193T>A (p.Gly731=) c.3395T>A c.1260+480T>A c.3210T>A n.214T>A c.11913T>A (p.Gly3971=) n.5842T>A c.12042T>A (p.Gly4014=) | |
2 | g.73601361T>C | CA426783587 | ALMS1 | c.11658T>C (p.Gly3886=) c.11167-824T>C (n.11167-824T>C) c.4744T>C c.8939T>C c.6105T>C (p.Gly2035=) c.9123T>C c.12039T>C (p.Gly4013=) c.2193T>C (p.Gly731=) c.3395T>C c.1260+480T>C c.3210T>C n.214T>C c.11913T>C (p.Gly3971=) n.5842T>C c.12042T>C (p.Gly4014=) | |
2 | g.73601361T>G | CA426783588 | ALMS1 | c.11658T>G (p.Gly3886=) c.11167-824T>G (n.11167-824T>G) c.4744T>G c.8939T>G c.6105T>G (p.Gly2035=) c.9123T>G c.12039T>G (p.Gly4013=) c.2193T>G (p.Gly731=) c.3395T>G c.1260+480T>G c.3210T>G n.214T>G c.11913T>G (p.Gly3971=) n.5842T>G c.12042T>G (p.Gly4014=) | dbSNP |
2 | g.73601361T= | CA1261033945 | ALMS1 | c.11658T= (p.Gly3886=) c.11167-824T= (n.11167-824T=) c.4744T= c.8939T= c.6105T= (p.Gly2035=) c.9123T= c.12039T= (p.Gly4013=) c.2193T= (p.Gly731=) c.3395T= c.1260+480T= c.3210T= n.214T= c.11913T= (p.Gly3971=) n.5842T= c.12042T= (p.Gly4014=) | |
2 | g.73601362C>A | CA426783590 | ALMS1 | c.11659C>A (p.Arg3887=) c.11167-823C>A (n.11167-823C>A) c.4745C>A c.8940C>A c.6106C>A (p.Arg2036=) c.9124C>A c.12040C>A (p.Arg4014=) c.2194C>A (p.Arg732=) c.3396C>A c.1260+481C>A c.3211C>A n.215C>A c.11914C>A (p.Arg3972=) n.5843C>A c.12043C>A (p.Arg4015=) | gnomAD v4 |
2 | g.73601362C= | CA1261033949 | ALMS1 | c.11659C= (p.Arg3887=) c.11167-823C= (n.11167-823C=) c.4745C= c.8940C= c.6106C= (p.Arg2036=) c.9124C= c.12040C= (p.Arg4014=) c.2194C= (p.Arg732=) c.3396C= c.1260+481C= c.3211C= n.215C= c.11914C= (p.Arg3972=) n.5843C= c.12043C= (p.Arg4015=) | |
2 | g.73601362C>G | CA347266661 | ALMS1 | c.11659C>G (p.Arg3887Gly) c.11167-823C>G (n.11167-823C>G) c.4745C>G c.8940C>G c.6106C>G (p.Arg2036Gly) c.9124C>G c.12040C>G (p.Arg4014Gly) c.2194C>G (p.Arg732Gly) c.3396C>G c.1260+481C>G c.3211C>G n.215C>G c.11914C>G (p.Arg3972Gly) n.5843C>G c.12043C>G (p.Arg4015Gly) | |
2 | g.73601362C>T | CA1715409 | ALMS1 | c.11659C>T (p.Arg3887Trp) c.11167-823C>T (n.11167-823C>T) c.4745C>T c.8940C>T c.6106C>T (p.Arg2036Trp) c.9124C>T c.12040C>T (p.Arg4014Trp) c.2194C>T (p.Arg732Trp) c.3396C>T c.1260+481C>T c.3211C>T n.215C>T c.11914C>T (p.Arg3972Trp) n.5843C>T c.12043C>T (p.Arg4015Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73601362_73601363del | CA2580068177 | ALMS1 | c.11659_11660del (p.Arg3887GlyfsTer?) c.11167-823_11167-822del (n.11167-823_11167-822del) c.4745_4746del c.8940_8941del c.6106_6107del (p.Arg2036GlyfsTer?) c.9124_9125del c.12040_12041del (p.Arg4014GlyfsTer?) c.2194_2195del (p.Arg732GlyfsTer?) c.3396_3397del c.1260+481_1260+482del c.3211_3212del n.215_216del c.11914_11915del (p.Arg3972GlyfsTer?) n.5843_5844del c.12043_12044del (p.Arg4015GlyfsTer?) | ClinVar |
2 | g.73601362_73601363delinsCG | CA1261033948 | ALMS1 | c.11659_11660delinsCG (p.Arg3887=) c.11167-823_11167-822delinsCG (n.11167-823_11167-822delinsCG) c.4745_4746delinsCG c.8940_8941delinsCG c.6106_6107delinsCG (p.Arg2036=) c.9124_9125delinsCG c.12040_12041delinsCG (p.Arg4014=) c.2194_2195delinsCG (p.Arg732=) c.3396_3397delinsCG c.1260+481_1260+482delinsCG c.3211_3212delinsCG n.215_216delinsCG c.11914_11915delinsCG (p.Arg3972=) n.5843_5844delinsCG c.12043_12044delinsCG (p.Arg4015=) | |
2 | g.73601363G>A | CA1715410 | ALMS1 | c.11660G>A (p.Arg3887Gln) c.11167-822G>A (n.11167-822G>A) c.4746G>A c.8941G>A c.6107G>A (p.Arg2036Gln) c.9125G>A c.12041G>A (p.Arg4014Gln) c.2195G>A (p.Arg732Gln) c.3397G>A c.1260+482G>A c.3212G>A n.216G>A c.11915G>A (p.Arg3972Gln) n.5844G>A c.12044G>A (p.Arg4015Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73601363G>C | CA347266674 | ALMS1 | c.11660G>C (p.Arg3887Pro) c.11167-822G>C (n.11167-822G>C) c.4746G>C c.8941G>C c.6107G>C (p.Arg2036Pro) c.9125G>C c.12041G>C (p.Arg4014Pro) c.2195G>C (p.Arg732Pro) c.3397G>C c.1260+482G>C c.3212G>C n.216G>C c.11915G>C (p.Arg3972Pro) n.5844G>C c.12044G>C (p.Arg4015Pro) | ClinVar |
2 | g.73601363G= | CA1261033954 | ALMS1 | c.11660G= (p.Arg3887=) c.11167-822G= (n.11167-822G=) c.4746G= c.8941G= c.6107G= (p.Arg2036=) c.9125G= c.12041G= (p.Arg4014=) c.2195G= (p.Arg732=) c.3397G= c.1260+482G= c.3212G= n.216G= c.11915G= (p.Arg3972=) n.5844G= c.12044G= (p.Arg4015=) | |
2 | g.73601363G>T | CA347266677 | ALMS1 | c.11660G>T (p.Arg3887Leu) c.11167-822G>T (n.11167-822G>T) c.4746G>T c.8941G>T c.6107G>T (p.Arg2036Leu) c.9125G>T c.12041G>T (p.Arg4014Leu) c.2195G>T (p.Arg732Leu) c.3397G>T c.1260+482G>T c.3212G>T n.216G>T c.11915G>T (p.Arg3972Leu) n.5844G>T c.12044G>T (p.Arg4015Leu) | |
2 | g.73601366del | CA1139657124 | ALMS1 | c.11663del (p.Gly3888AlafsTer15) c.11167-819del (n.11167-819del) c.4749del c.8944del c.6110del (p.Gly2037AlafsTer15) c.9128del c.12044del (p.Gly4015AlafsTer15) c.2198del (p.Gly733AlafsTer15) c.3400del c.1260+485del c.3215del n.219del c.11918del (p.Gly3973AlafsTer15) n.5847del c.12047del (p.Gly4016AlafsTer15) | ClinVar dbSNP |
2 | g.73601364G>A | CA426783591 | ALMS1 | c.11661G>A (p.Arg3887=) c.11167-821G>A (n.11167-821G>A) c.4747G>A c.8942G>A c.6108G>A (p.Arg2036=) c.9126G>A c.12042G>A (p.Arg4014=) c.2196G>A (p.Arg732=) c.3398G>A c.1260+483G>A c.3213G>A n.217G>A c.11916G>A (p.Arg3972=) n.5845G>A c.12045G>A (p.Arg4015=) | ClinVar dbSNP |
2 | g.73601364G>C | CA426783592 | ALMS1 | c.11661G>C (p.Arg3887=) c.11167-821G>C (n.11167-821G>C) c.4747G>C c.8942G>C c.6108G>C (p.Arg2036=) c.9126G>C c.12042G>C (p.Arg4014=) c.2196G>C (p.Arg732=) c.3398G>C c.1260+483G>C c.3213G>C n.217G>C c.11916G>C (p.Arg3972=) n.5845G>C c.12045G>C (p.Arg4015=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73601364G= | CA1261033966 | ALMS1 | c.11661G= (p.Arg3887=) c.11167-821G= (n.11167-821G=) c.4747G= c.8942G= c.6108G= (p.Arg2036=) c.9126G= c.12042G= (p.Arg4014=) c.2196G= (p.Arg732=) c.3398G= c.1260+483G= c.3213G= n.217G= c.11916G= (p.Arg3972=) n.5845G= c.12045G= (p.Arg4015=) | |
2 | g.73601364G>T | CA426783593 | ALMS1 | c.11661G>T (p.Arg3887=) c.11167-821G>T (n.11167-821G>T) c.4747G>T c.8942G>T c.6108G>T (p.Arg2036=) c.9126G>T c.12042G>T (p.Arg4014=) c.2196G>T (p.Arg732=) c.3398G>T c.1260+483G>T c.3213G>T n.217G>T c.11916G>T (p.Arg3972=) n.5845G>T c.12045G>T (p.Arg4015=) | |
2 | g.73601365G>A | CA347266681 | ALMS1 | c.11662G>A (p.Gly3888Ser) c.11167-820G>A (n.11167-820G>A) c.4748G>A c.8943G>A c.6109G>A (p.Gly2037Ser) c.9127G>A c.12043G>A (p.Gly4015Ser) c.2197G>A (p.Gly733Ser) c.3399G>A c.1260+484G>A c.3214G>A n.218G>A c.11917G>A (p.Gly3973Ser) n.5846G>A c.12046G>A (p.Gly4016Ser) | gnomAD v4 |
2 | g.73601365G>C | CA347266688 | ALMS1 | c.11662G>C (p.Gly3888Arg) c.11167-820G>C (n.11167-820G>C) c.4748G>C c.8943G>C c.6109G>C (p.Gly2037Arg) c.9127G>C c.12043G>C (p.Gly4015Arg) c.2197G>C (p.Gly733Arg) c.3399G>C c.1260+484G>C c.3214G>C n.218G>C c.11917G>C (p.Gly3973Arg) n.5846G>C c.12046G>C (p.Gly4016Arg) | |
2 | g.73601365G>T | CA347266684 | ALMS1 | c.11662G>T (p.Gly3888Cys) c.11167-820G>T (n.11167-820G>T) c.4748G>T c.8943G>T c.6109G>T (p.Gly2037Cys) c.9127G>T c.12043G>T (p.Gly4015Cys) c.2197G>T (p.Gly733Cys) c.3399G>T c.1260+484G>T c.3214G>T n.218G>T c.11917G>T (p.Gly3973Cys) n.5846G>T c.12046G>T (p.Gly4016Cys) | |
2 | g.73601366G>A | CA1715411 | ALMS1 | c.11663G>A (p.Gly3888Asp) c.11167-819G>A (n.11167-819G>A) c.4749G>A c.8944G>A c.6110G>A (p.Gly2037Asp) c.9128G>A c.12044G>A (p.Gly4015Asp) c.2198G>A (p.Gly733Asp) c.3400G>A c.1260+485G>A c.3215G>A n.219G>A c.11918G>A (p.Gly3973Asp) n.5847G>A c.12047G>A (p.Gly4016Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73601366G>C | CA347266695 | ALMS1 | c.11663G>C (p.Gly3888Ala) c.11167-819G>C (n.11167-819G>C) c.4749G>C c.8944G>C c.6110G>C (p.Gly2037Ala) c.9128G>C c.12044G>C (p.Gly4015Ala) c.2198G>C (p.Gly733Ala) c.3400G>C c.1260+485G>C c.3215G>C n.219G>C c.11918G>C (p.Gly3973Ala) n.5847G>C c.12047G>C (p.Gly4016Ala) | |
2 | g.73601366G= | CA1261033974 | ALMS1 | c.11663G= (p.Gly3888=) c.11167-819G= (n.11167-819G=) c.4749G= c.8944G= c.6110G= (p.Gly2037=) c.9128G= c.12044G= (p.Gly4015=) c.2198G= (p.Gly733=) c.3400G= c.1260+485G= c.3215G= n.219G= c.11918G= (p.Gly3973=) n.5847G= c.12047G= (p.Gly4016=) | |
2 | g.73601366G>T | CA347266698 | ALMS1 | c.11663G>T (p.Gly3888Val) c.11167-819G>T (n.11167-819G>T) c.4749G>T c.8944G>T c.6110G>T (p.Gly2037Val) c.9128G>T c.12044G>T (p.Gly4015Val) c.2198G>T (p.Gly733Val) c.3400G>T c.1260+485G>T c.3215G>T n.219G>T c.11918G>T (p.Gly3973Val) n.5847G>T c.12047G>T (p.Gly4016Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73601367C>A | CA426783596 | ALMS1 | c.11664C>A (p.Gly3888=) c.11167-818C>A (n.11167-818C>A) c.4750C>A c.8945C>A c.6111C>A (p.Gly2037=) c.9129C>A c.12045C>A (p.Gly4015=) c.2199C>A (p.Gly733=) c.3401C>A c.1260+486C>A c.3216C>A n.220C>A c.11919C>A (p.Gly3973=) n.5848C>A c.12048C>A (p.Gly4016=) | ClinVar dbSNP |
2 | g.73601367C= | CA1261033979 | ALMS1 | c.11664C= (p.Gly3888=) c.11167-818C= (n.11167-818C=) c.4750C= c.8945C= c.6111C= (p.Gly2037=) c.9129C= c.12045C= (p.Gly4015=) c.2199C= (p.Gly733=) c.3401C= c.1260+486C= c.3216C= n.220C= c.11919C= (p.Gly3973=) n.5848C= c.12048C= (p.Gly4016=) | |
2 | g.73601367C>G | CA426783594 | ALMS1 | c.11664C>G (p.Gly3888=) c.11167-818C>G (n.11167-818C>G) c.4750C>G c.8945C>G c.6111C>G (p.Gly2037=) c.9129C>G c.12045C>G (p.Gly4015=) c.2199C>G (p.Gly733=) c.3401C>G c.1260+486C>G c.3216C>G n.220C>G c.11919C>G (p.Gly3973=) n.5848C>G c.12048C>G (p.Gly4016=) | |
2 | g.73601367C>T | CA426783595 | ALMS1 | c.11664C>T (p.Gly3888=) c.11167-818C>T (n.11167-818C>T) c.4750C>T c.8945C>T c.6111C>T (p.Gly2037=) c.9129C>T c.12045C>T (p.Gly4015=) c.2199C>T (p.Gly733=) c.3401C>T c.1260+486C>T c.3216C>T n.220C>T c.11919C>T (p.Gly3973=) n.5848C>T c.12048C>T (p.Gly4016=) | ClinVar |
2 | g.73601368T>A | CA347266702 | ALMS1 | c.11665T>A (p.Tyr3889Asn) c.11167-817T>A (n.11167-817T>A) c.4751T>A c.8946T>A c.6112T>A (p.Tyr2038Asn) c.9130T>A c.12046T>A (p.Tyr4016Asn) c.2200T>A (p.Tyr734Asn) c.3402T>A c.1260+487T>A c.3217T>A n.221T>A c.11920T>A (p.Tyr3974Asn) n.5849T>A c.12049T>A (p.Tyr4017Asn) | |
2 | g.73601368T>C | CA347266706 | ALMS1 | c.11665T>C (p.Tyr3889His) c.11167-817T>C (n.11167-817T>C) c.4751T>C c.8946T>C c.6112T>C (p.Tyr2038His) c.9130T>C c.12046T>C (p.Tyr4016His) c.2200T>C (p.Tyr734His) c.3402T>C c.1260+487T>C c.3217T>C n.221T>C c.11920T>C (p.Tyr3974His) n.5849T>C c.12049T>C (p.Tyr4017His) | |
2 | g.73601368T>G | CA347266709 | ALMS1 | c.11665T>G (p.Tyr3889Asp) c.11167-817T>G (n.11167-817T>G) c.4751T>G c.8946T>G c.6112T>G (p.Tyr2038Asp) c.9130T>G c.12046T>G (p.Tyr4016Asp) c.2200T>G (p.Tyr734Asp) c.3402T>G c.1260+487T>G c.3217T>G n.221T>G c.11920T>G (p.Tyr3974Asp) n.5849T>G c.12049T>G (p.Tyr4017Asp) | |
2 | g.73601369A= | CA1261033982 | ALMS1 | c.11666A= (p.Tyr3889=) c.11167-816A= (n.11167-816A=) c.4752A= c.8947A= c.6113A= (p.Tyr2038=) c.9131A= c.12047A= (p.Tyr4016=) c.2201A= (p.Tyr734=) c.3403A= c.1260+488A= c.3218A= n.222A= c.11921A= (p.Tyr3974=) n.5850A= c.12050A= (p.Tyr4017=) | |
2 | g.73601369A>C | CA50337391 | ALMS1 | c.11666A>C (p.Tyr3889Ser) c.11167-816A>C (n.11167-816A>C) c.4752A>C c.8947A>C c.6113A>C (p.Tyr2038Ser) c.9131A>C c.12047A>C (p.Tyr4016Ser) c.2201A>C (p.Tyr734Ser) c.3403A>C c.1260+488A>C c.3218A>C n.222A>C c.11921A>C (p.Tyr3974Ser) n.5850A>C c.12050A>C (p.Tyr4017Ser) | dbSNP |
2 | g.73601369A>G | CA1715412 | ALMS1 | c.11666A>G (p.Tyr3889Cys) c.11167-816A>G (n.11167-816A>G) c.4752A>G c.8947A>G c.6113A>G (p.Tyr2038Cys) c.9131A>G c.12047A>G (p.Tyr4016Cys) c.2201A>G (p.Tyr734Cys) c.3403A>G c.1260+488A>G c.3218A>G n.222A>G c.11921A>G (p.Tyr3974Cys) n.5850A>G c.12050A>G (p.Tyr4017Cys) | ClinVar dbSNP ExAC gnomAD v2 |
2 | g.73601369A>T | CA347266722 | ALMS1 | c.11666A>T (p.Tyr3889Phe) c.11167-816A>T (n.11167-816A>T) c.4752A>T c.8947A>T c.6113A>T (p.Tyr2038Phe) c.9131A>T c.12047A>T (p.Tyr4016Phe) c.2201A>T (p.Tyr734Phe) c.3403A>T c.1260+488A>T c.3218A>T n.222A>T c.11921A>T (p.Tyr3974Phe) n.5850A>T c.12050A>T (p.Tyr4017Phe) | |
2 | g.73601370C>A | CA347266736 | ALMS1 | c.11667C>A (p.Tyr3889Ter) c.11167-815C>A (n.11167-815C>A) c.4753C>A c.8948C>A c.6114C>A (p.Tyr2038Ter) c.9132C>A c.12048C>A (p.Tyr4016Ter) c.2202C>A (p.Tyr734Ter) c.3404C>A c.1260+489C>A c.3219C>A n.223C>A c.11922C>A (p.Tyr3974Ter) n.5851C>A c.12051C>A (p.Tyr4017Ter) | |
2 | g.73601370C>G | CA347266738 | ALMS1 | c.11667C>G (p.Tyr3889Ter) c.11167-815C>G (n.11167-815C>G) c.4753C>G c.8948C>G c.6114C>G (p.Tyr2038Ter) c.9132C>G c.12048C>G (p.Tyr4016Ter) c.2202C>G (p.Tyr734Ter) c.3404C>G c.1260+489C>G c.3219C>G n.223C>G c.11922C>G (p.Tyr3974Ter) n.5851C>G c.12051C>G (p.Tyr4017Ter) | |
2 | g.73601370C>T | CA426783597 | ALMS1 | c.11667C>T (p.Tyr3889=) c.11167-815C>T (n.11167-815C>T) c.4753C>T c.8948C>T c.6114C>T (p.Tyr2038=) c.9132C>T c.12048C>T (p.Tyr4016=) c.2202C>T (p.Tyr734=) c.3404C>T c.1260+489C>T c.3219C>T n.223C>T c.11922C>T (p.Tyr3974=) n.5851C>T c.12051C>T (p.Tyr4017=) | ClinVar dbSNP |
2 | g.73601371dup | CA1715413 | ALMS1 | c.11668dup (p.Leu3890ProfsTer?) c.11167-814dup (n.11167-814dup) c.4754dup c.8949dup c.6115dup (p.Leu2039ProfsTer?) c.9133dup c.12049dup (p.Leu4017ProfsTer?) c.2203dup (p.Leu735ProfsTer?) c.3405dup c.1260+490dup c.3220dup n.224dup c.11923dup (p.Leu3975ProfsTer?) n.5852dup c.12052dup (p.Leu4018ProfsTer?) | dbSNP ExAC gnomAD v2 |
2 | g.73601371C>A | CA347266745 | ALMS1 | c.11668C>A (p.Leu3890Met) c.11167-814C>A (n.11167-814C>A) c.4754C>A c.8949C>A c.6115C>A (p.Leu2039Met) c.9133C>A c.12049C>A (p.Leu4017Met) c.2203C>A (p.Leu735Met) c.3405C>A c.1260+490C>A c.3220C>A n.224C>A c.11923C>A (p.Leu3975Met) n.5852C>A c.12052C>A (p.Leu4018Met) | |
2 | g.73601371C= | CA1261033989 | ALMS1 | c.11668C= (p.Leu3890=) c.11167-814C= (n.11167-814C=) c.4754C= c.8949C= c.6115C= (p.Leu2039=) c.9133C= c.12049C= (p.Leu4017=) c.2203C= (p.Leu735=) c.3405C= c.1260+490C= c.3220C= n.224C= c.11923C= (p.Leu3975=) n.5852C= c.12052C= (p.Leu4018=) | |
2 | g.73601371C>G | CA347266742 | ALMS1 | c.11668C>G (p.Leu3890Val) c.11167-814C>G (n.11167-814C>G) c.4754C>G c.8949C>G c.6115C>G (p.Leu2039Val) c.9133C>G c.12049C>G (p.Leu4017Val) c.2203C>G (p.Leu735Val) c.3405C>G c.1260+490C>G c.3220C>G n.224C>G c.11923C>G (p.Leu3975Val) n.5852C>G c.12052C>G (p.Leu4018Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73601371C>T | CA426783598 | ALMS1 | c.11668C>T (p.Leu3890=) c.11167-814C>T (n.11167-814C>T) c.4754C>T c.8949C>T c.6115C>T (p.Leu2039=) c.9133C>T c.12049C>T (p.Leu4017=) c.2203C>T (p.Leu735=) c.3405C>T c.1260+490C>T c.3220C>T n.224C>T c.11923C>T (p.Leu3975=) n.5852C>T c.12052C>T (p.Leu4018=) | |
2 | g.73601372T>A | CA347266751 | ALMS1 | c.11669T>A (p.Leu3890Gln) c.11167-813T>A (n.11167-813T>A) c.4755T>A c.8950T>A c.6116T>A (p.Leu2039Gln) c.9134T>A c.12050T>A (p.Leu4017Gln) c.2204T>A (p.Leu735Gln) c.3406T>A c.1260+491T>A c.3221T>A n.225T>A c.11924T>A (p.Leu3975Gln) n.5853T>A c.12053T>A (p.Leu4018Gln) | |
2 | g.73601372T>C | CA347266757 | ALMS1 | c.11669T>C (p.Leu3890Pro) c.11167-813T>C (n.11167-813T>C) c.4755T>C c.8950T>C c.6116T>C (p.Leu2039Pro) c.9134T>C c.12050T>C (p.Leu4017Pro) c.2204T>C (p.Leu735Pro) c.3406T>C c.1260+491T>C c.3221T>C n.225T>C c.11924T>C (p.Leu3975Pro) n.5853T>C c.12053T>C (p.Leu4018Pro) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73601372T>G | CA347266753 | ALMS1 | c.11669T>G (p.Leu3890Arg) c.11167-813T>G (n.11167-813T>G) c.4755T>G c.8950T>G c.6116T>G (p.Leu2039Arg) c.9134T>G c.12050T>G (p.Leu4017Arg) c.2204T>G (p.Leu735Arg) c.3406T>G c.1260+491T>G c.3221T>G n.225T>G c.11924T>G (p.Leu3975Arg) n.5853T>G c.12053T>G (p.Leu4018Arg) | |
2 | g.73601372T= | CA1261033992 | ALMS1 | c.11669T= (p.Leu3890=) c.11167-813T= (n.11167-813T=) c.4755T= c.8950T= c.6116T= (p.Leu2039=) c.9134T= c.12050T= (p.Leu4017=) c.2204T= (p.Leu735=) c.3406T= c.1260+491T= c.3221T= n.225T= c.11924T= (p.Leu3975=) n.5853T= c.12053T= (p.Leu4018=) | |
2 | g.73601373G>A | CA426783599 | ALMS1 | c.11670G>A (p.Leu3890=) c.11167-812G>A (n.11167-812G>A) c.4756G>A c.8951G>A c.6117G>A (p.Leu2039=) c.9135G>A c.12051G>A (p.Leu4017=) c.2205G>A (p.Leu735=) c.3407G>A c.1260+492G>A c.3222G>A n.226G>A c.11925G>A (p.Leu3975=) n.5854G>A c.12054G>A (p.Leu4018=) | gnomAD v4 |
2 | g.73601373G>C | CA426783600 | ALMS1 | c.11670G>C (p.Leu3890=) c.11167-812G>C (n.11167-812G>C) c.4756G>C c.8951G>C c.6117G>C (p.Leu2039=) c.9135G>C c.12051G>C (p.Leu4017=) c.2205G>C (p.Leu735=) c.3407G>C c.1260+492G>C c.3222G>C n.226G>C c.11925G>C (p.Leu3975=) n.5854G>C c.12054G>C (p.Leu4018=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73601373G= | CA1261033994 | ALMS1 | c.11670G= (p.Leu3890=) c.11167-812G= (n.11167-812G=) c.4756G= c.8951G= c.6117G= (p.Leu2039=) c.9135G= c.12051G= (p.Leu4017=) c.2205G= (p.Leu735=) c.3407G= c.1260+492G= c.3222G= n.226G= c.11925G= (p.Leu3975=) n.5854G= c.12054G= (p.Leu4018=) | |
2 | g.73601373G>T | CA426783601 | ALMS1 | c.11670G>T (p.Leu3890=) c.11167-812G>T (n.11167-812G>T) c.4756G>T c.8951G>T c.6117G>T (p.Leu2039=) c.9135G>T c.12051G>T (p.Leu4017=) c.2205G>T (p.Leu735=) c.3407G>T c.1260+492G>T c.3222G>T n.226G>T c.11925G>T (p.Leu3975=) n.5854G>T c.12054G>T (p.Leu4018=) | ClinVar |
2 | g.73601374G>A | CA347266762 | ALMS1 | c.11671G>A (p.Ala3891Thr) c.11167-811G>A (n.11167-811G>A) c.4757G>A c.8952G>A c.6118G>A (p.Ala2040Thr) c.9136G>A c.12052G>A (p.Ala4018Thr) c.2206G>A (p.Ala736Thr) c.3408G>A c.1260+493G>A c.3223G>A n.227G>A c.11926G>A (p.Ala3976Thr) n.5855G>A c.12055G>A (p.Ala4019Thr) | |
2 | g.73601374G>C | CA347266767 | ALMS1 | c.11671G>C (p.Ala3891Pro) c.11167-811G>C (n.11167-811G>C) c.4757G>C c.8952G>C c.6118G>C (p.Ala2040Pro) c.9136G>C c.12052G>C (p.Ala4018Pro) c.2206G>C (p.Ala736Pro) c.3408G>C c.1260+493G>C c.3223G>C n.227G>C c.11926G>C (p.Ala3976Pro) n.5855G>C c.12055G>C (p.Ala4019Pro) | |
2 | g.73601374G>T | CA347266764 | ALMS1 | c.11671G>T (p.Ala3891Ser) c.11167-811G>T (n.11167-811G>T) c.4757G>T c.8952G>T c.6118G>T (p.Ala2040Ser) c.9136G>T c.12052G>T (p.Ala4018Ser) c.2206G>T (p.Ala736Ser) c.3408G>T c.1260+493G>T c.3223G>T n.227G>T c.11926G>T (p.Ala3976Ser) n.5855G>T c.12055G>T (p.Ala4019Ser) | |
2 | g.73601375C>A | CA347266770 | ALMS1 | c.11672C>A (p.Ala3891Glu) c.11167-810C>A (n.11167-810C>A) c.4758C>A c.8953C>A c.6119C>A (p.Ala2040Glu) c.9137C>A c.12053C>A (p.Ala4018Glu) c.2207C>A (p.Ala736Glu) c.3409C>A c.1260+494C>A c.3224C>A n.228C>A c.11927C>A (p.Ala3976Glu) n.5856C>A c.12056C>A (p.Ala4019Glu) | |
2 | g.73601375C>G | CA347266773 | ALMS1 | c.11672C>G (p.Ala3891Gly) c.11167-810C>G (n.11167-810C>G) c.4758C>G c.8953C>G c.6119C>G (p.Ala2040Gly) c.9137C>G c.12053C>G (p.Ala4018Gly) c.2207C>G (p.Ala736Gly) c.3409C>G c.1260+494C>G c.3224C>G n.228C>G c.11927C>G (p.Ala3976Gly) n.5856C>G c.12056C>G (p.Ala4019Gly) | |
2 | g.73601375C>T | CA347266778 | ALMS1 | c.11672C>T (p.Ala3891Val) c.11167-810C>T (n.11167-810C>T) c.4758C>T c.8953C>T c.6119C>T (p.Ala2040Val) c.9137C>T c.12053C>T (p.Ala4018Val) c.2207C>T (p.Ala736Val) c.3409C>T c.1260+494C>T c.3224C>T n.228C>T c.11927C>T (p.Ala3976Val) n.5856C>T c.12056C>T (p.Ala4019Val) | |
2 | g.73601376A= | CA1261033996 | ALMS1 | c.11673A= (p.Ala3891=) c.11167-809A= (n.11167-809A=) c.4759A= c.8954A= c.6120A= (p.Ala2040=) c.9138A= c.12054A= (p.Ala4018=) c.2208A= (p.Ala736=) c.3410A= c.1260+495A= c.3225A= n.229A= c.11928A= (p.Ala3976=) n.5857A= c.12057A= (p.Ala4019=) | |
2 | g.73601376A>C | CA426783603 | ALMS1 | c.11673A>C (p.Ala3891=) c.11167-809A>C (n.11167-809A>C) c.4759A>C c.8954A>C c.6120A>C (p.Ala2040=) c.9138A>C c.12054A>C (p.Ala4018=) c.2208A>C (p.Ala736=) c.3410A>C c.1260+495A>C c.3225A>C n.229A>C c.11928A>C (p.Ala3976=) n.5857A>C c.12057A>C (p.Ala4019=) | gnomAD v4 |
2 | g.73601376A>G | CA50337399 | ALMS1 | c.11673A>G (p.Ala3891=) c.11167-809A>G (n.11167-809A>G) c.4759A>G c.8954A>G c.6120A>G (p.Ala2040=) c.9138A>G c.12054A>G (p.Ala4018=) c.2208A>G (p.Ala736=) c.3410A>G c.1260+495A>G c.3225A>G n.229A>G c.11928A>G (p.Ala3976=) n.5857A>G c.12057A>G (p.Ala4019=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73601376A>T | CA426783602 | ALMS1 | c.11673A>T (p.Ala3891=) c.11167-809A>T (n.11167-809A>T) c.4759A>T c.8954A>T c.6120A>T (p.Ala2040=) c.9138A>T c.12054A>T (p.Ala4018=) c.2208A>T (p.Ala736=) c.3410A>T c.1260+495A>T c.3225A>T n.229A>T c.11928A>T (p.Ala3976=) n.5857A>T c.12057A>T (p.Ala4019=) | |
2 | g.73601377G>A | CA347266788 | ALMS1 | c.11674G>A (p.Gly3892Ser) c.11167-808G>A (n.11167-808G>A) c.4760G>A c.8955G>A c.6121G>A (p.Gly2041Ser) c.9139G>A c.12055G>A (p.Gly4019Ser) c.2209G>A (p.Gly737Ser) c.3411G>A c.1260+496G>A c.3226G>A n.230G>A c.11929G>A (p.Gly3977Ser) n.5858G>A c.12058G>A (p.Gly4020Ser) | gnomAD v4 |
2 | g.73601377G>C | CA347266789 | ALMS1 | c.11674G>C (p.Gly3892Arg) c.11167-808G>C (n.11167-808G>C) c.4760G>C c.8955G>C c.6121G>C (p.Gly2041Arg) c.9139G>C c.12055G>C (p.Gly4019Arg) c.2209G>C (p.Gly737Arg) c.3411G>C c.1260+496G>C c.3226G>C n.230G>C c.11929G>C (p.Gly3977Arg) n.5858G>C c.12058G>C (p.Gly4020Arg) | gnomAD v4 |
2 | g.73601377G>T | CA347266792 | ALMS1 | c.11674G>T (p.Gly3892Cys) c.11167-808G>T (n.11167-808G>T) c.4760G>T c.8955G>T c.6121G>T (p.Gly2041Cys) c.9139G>T c.12055G>T (p.Gly4019Cys) c.2209G>T (p.Gly737Cys) c.3411G>T c.1260+496G>T c.3226G>T n.230G>T c.11929G>T (p.Gly3977Cys) n.5858G>T c.12058G>T (p.Gly4020Cys) | |
2 | g.73601378G>A | CA347266805 | ALMS1 | c.11675G>A (p.Gly3892Asp) c.11167-807G>A (n.11167-807G>A) c.4761G>A c.8956G>A c.6122G>A (p.Gly2041Asp) c.9140G>A c.12056G>A (p.Gly4019Asp) c.2210G>A (p.Gly737Asp) c.3412G>A c.1260+497G>A c.3227G>A n.231G>A c.11930G>A (p.Gly3977Asp) n.5859G>A c.12059G>A (p.Gly4020Asp) | |
2 | g.73601378G>C | CA347266808 | ALMS1 | c.11675G>C (p.Gly3892Ala) c.11167-807G>C (n.11167-807G>C) c.4761G>C c.8956G>C c.6122G>C (p.Gly2041Ala) c.9140G>C c.12056G>C (p.Gly4019Ala) c.2210G>C (p.Gly737Ala) c.3412G>C c.1260+497G>C c.3227G>C n.231G>C c.11930G>C (p.Gly3977Ala) n.5859G>C c.12059G>C (p.Gly4020Ala) | |
2 | g.73601378G>T | CA347266813 | ALMS1 | c.11675G>T (p.Gly3892Val) c.11167-807G>T (n.11167-807G>T) c.4761G>T c.8956G>T c.6122G>T (p.Gly2041Val) c.9140G>T c.12056G>T (p.Gly4019Val) c.2210G>T (p.Gly737Val) c.3412G>T c.1260+497G>T c.3227G>T n.231G>T c.11930G>T (p.Gly3977Val) n.5859G>T c.12059G>T (p.Gly4020Val) | |
2 | g.73601379C>A | CA426783606 | ALMS1 | c.11676C>A (p.Gly3892=) c.11167-806C>A (n.11167-806C>A) c.4762C>A c.8957C>A c.6123C>A (p.Gly2041=) c.9141C>A c.12057C>A (p.Gly4019=) c.2211C>A (p.Gly737=) c.3413C>A c.1260+498C>A c.3228C>A n.232C>A c.11931C>A (p.Gly3977=) n.5860C>A c.12060C>A (p.Gly4020=) | |
2 | g.73601379C= | CA1261033999 | ALMS1 | c.11676C= (p.Gly3892=) c.11167-806C= (n.11167-806C=) c.4762C= c.8957C= c.6123C= (p.Gly2041=) c.9141C= c.12057C= (p.Gly4019=) c.2211C= (p.Gly737=) c.3413C= c.1260+498C= c.3228C= n.232C= c.11931C= (p.Gly3977=) n.5860C= c.12060C= (p.Gly4020=) | |
2 | g.73601379C>G | CA426783604 | ALMS1 | c.11676C>G (p.Gly3892=) c.11167-806C>G (n.11167-806C>G) c.4762C>G c.8957C>G c.6123C>G (p.Gly2041=) c.9141C>G c.12057C>G (p.Gly4019=) c.2211C>G (p.Gly737=) c.3413C>G c.1260+498C>G c.3228C>G n.232C>G c.11931C>G (p.Gly3977=) n.5860C>G c.12060C>G (p.Gly4020=) | |
2 | g.73601379C>T | CA426783605 | ALMS1 | c.11676C>T (p.Gly3892=) c.11167-806C>T (n.11167-806C>T) c.4762C>T c.8957C>T c.6123C>T (p.Gly2041=) c.9141C>T c.12057C>T (p.Gly4019=) c.2211C>T (p.Gly737=) c.3413C>T c.1260+498C>T c.3228C>T n.232C>T c.11931C>T (p.Gly3977=) n.5860C>T c.12060C>T (p.Gly4020=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.73601381del | CA2573135820 | ALMS1 | c.11678del (p.Pro3893GlnfsTer10) c.11167-804del (n.11167-804del) c.4764del c.8959del c.6125del (p.Pro2042GlnfsTer10) c.9143del c.12059del (p.Pro4020GlnfsTer10) c.2213del (p.Pro738GlnfsTer10) c.3415del c.1260+500del c.3230del n.234del c.11933del (p.Pro3978GlnfsTer10) n.5862del c.12062del (p.Pro4021GlnfsTer10) | ClinVar dbSNP |
2 | g.73601380C>A | CA347266818 | ALMS1 | c.11677C>A (p.Pro3893Thr) c.11167-805C>A (n.11167-805C>A) c.4763C>A c.8958C>A c.6124C>A (p.Pro2042Thr) c.9142C>A c.12058C>A (p.Pro4020Thr) c.2212C>A (p.Pro738Thr) c.3414C>A c.1260+499C>A c.3229C>A n.233C>A c.11932C>A (p.Pro3978Thr) n.5861C>A c.12061C>A (p.Pro4021Thr) | gnomAD v4 |
2 | g.73601380C>G | CA347266820 | ALMS1 | c.11677C>G (p.Pro3893Ala) c.11167-805C>G (n.11167-805C>G) c.4763C>G c.8958C>G c.6124C>G (p.Pro2042Ala) c.9142C>G c.12058C>G (p.Pro4020Ala) c.2212C>G (p.Pro738Ala) c.3414C>G c.1260+499C>G c.3229C>G n.233C>G c.11932C>G (p.Pro3978Ala) n.5861C>G c.12061C>G (p.Pro4021Ala) | gnomAD v4 |
2 | g.73601380C>T | CA347266823 | ALMS1 | c.11677C>T (p.Pro3893Ser) c.11167-805C>T (n.11167-805C>T) c.4763C>T c.8958C>T c.6124C>T (p.Pro2042Ser) c.9142C>T c.12058C>T (p.Pro4020Ser) c.2212C>T (p.Pro738Ser) c.3414C>T c.1260+499C>T c.3229C>T n.233C>T c.11932C>T (p.Pro3978Ser) n.5861C>T c.12061C>T (p.Pro4021Ser) | |
2 | g.73601381C>A | CA347266834 | ALMS1 | c.11678C>A (p.Pro3893Gln) c.11167-804C>A (n.11167-804C>A) c.4764C>A c.8959C>A c.6125C>A (p.Pro2042Gln) c.9143C>A c.12059C>A (p.Pro4020Gln) c.2213C>A (p.Pro738Gln) c.3415C>A c.1260+500C>A c.3230C>A n.234C>A c.11933C>A (p.Pro3978Gln) n.5862C>A c.12062C>A (p.Pro4021Gln) | |
2 | g.73601381C>G | CA347266827 | ALMS1 | c.11678C>G (p.Pro3893Arg) c.11167-804C>G (n.11167-804C>G) c.4764C>G c.8959C>G c.6125C>G (p.Pro2042Arg) c.9143C>G c.12059C>G (p.Pro4020Arg) c.2213C>G (p.Pro738Arg) c.3415C>G c.1260+500C>G c.3230C>G n.234C>G c.11933C>G (p.Pro3978Arg) n.5862C>G c.12062C>G (p.Pro4021Arg) | gnomAD v4 |
2 | g.73601381C>T | CA347266831 | ALMS1 | c.11678C>T (p.Pro3893Leu) c.11167-804C>T (n.11167-804C>T) c.4764C>T c.8959C>T c.6125C>T (p.Pro2042Leu) c.9143C>T c.12059C>T (p.Pro4020Leu) c.2213C>T (p.Pro738Leu) c.3415C>T c.1260+500C>T c.3230C>T n.234C>T c.11933C>T (p.Pro3978Leu) n.5862C>T c.12062C>T (p.Pro4021Leu) | |
2 | g.73601382A>C | CA426783607 | ALMS1 | c.11679A>C (p.Pro3893=) c.11167-803A>C (n.11167-803A>C) c.4765A>C c.8960A>C c.6126A>C (p.Pro2042=) c.9144A>C c.12060A>C (p.Pro4020=) c.2214A>C (p.Pro738=) c.3416A>C c.1260+501A>C c.3231A>C n.235A>C c.11934A>C (p.Pro3978=) n.5863A>C c.12063A>C (p.Pro4021=) | |
2 | g.73601382A>G | CA426783609 | ALMS1 | c.11679A>G (p.Pro3893=) c.11167-803A>G (n.11167-803A>G) c.4765A>G c.8960A>G c.6126A>G (p.Pro2042=) c.9144A>G c.12060A>G (p.Pro4020=) c.2214A>G (p.Pro738=) c.3416A>G c.1260+501A>G c.3231A>G n.235A>G c.11934A>G (p.Pro3978=) n.5863A>G c.12063A>G (p.Pro4021=) | |
2 | g.73601382A>T | CA426783608 | ALMS1 | c.11679A>T (p.Pro3893=) c.11167-803A>T (n.11167-803A>T) c.4765A>T c.8960A>T c.6126A>T (p.Pro2042=) c.9144A>T c.12060A>T (p.Pro4020=) c.2214A>T (p.Pro738=) c.3416A>T c.1260+501A>T c.3231A>T n.235A>T c.11934A>T (p.Pro3978=) n.5863A>T c.12063A>T (p.Pro4021=) | |
2 | g.73601383G>A | CA347266838 | ALMS1 | c.11680G>A (p.Gly3894Ser) c.11167-802G>A (n.11167-802G>A) c.4766G>A c.8961G>A c.6127G>A (p.Gly2043Ser) c.9145G>A c.12061G>A (p.Gly4021Ser) c.2215G>A (p.Gly739Ser) c.3417G>A c.1260+502G>A c.3232G>A n.236G>A c.11935G>A (p.Gly3979Ser) n.5864G>A c.12064G>A (p.Gly4022Ser) | |
2 | g.73601383G>C | CA347266841 | ALMS1 | c.11680G>C (p.Gly3894Arg) c.11167-802G>C (n.11167-802G>C) c.4766G>C c.8961G>C c.6127G>C (p.Gly2043Arg) c.9145G>C c.12061G>C (p.Gly4021Arg) c.2215G>C (p.Gly739Arg) c.3417G>C c.1260+502G>C c.3232G>C n.236G>C c.11935G>C (p.Gly3979Arg) n.5864G>C c.12064G>C (p.Gly4022Arg) | |
2 | g.73601383G>T | CA347266843 | ALMS1 | c.11680G>T (p.Gly3894Cys) c.11167-802G>T (n.11167-802G>T) c.4766G>T c.8961G>T c.6127G>T (p.Gly2043Cys) c.9145G>T c.12061G>T (p.Gly4021Cys) c.2215G>T (p.Gly739Cys) c.3417G>T c.1260+502G>T c.3232G>T n.236G>T c.11935G>T (p.Gly3979Cys) n.5864G>T c.12064G>T (p.Gly4022Cys) | gnomAD v4 |
2 | g.73601384G>A | CA1715414 | ALMS1 | c.11681G>A (p.Gly3894Asp) c.11167-801G>A (n.11167-801G>A) c.4767G>A c.8962G>A c.6128G>A (p.Gly2043Asp) c.9146G>A c.12062G>A (p.Gly4021Asp) c.2216G>A (p.Gly739Asp) c.3418G>A c.1260+503G>A c.3233G>A n.237G>A c.11936G>A (p.Gly3979Asp) n.5865G>A c.12065G>A (p.Gly4022Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73601384G>C | CA347266851 | ALMS1 | c.11681G>C (p.Gly3894Ala) c.11167-801G>C (n.11167-801G>C) c.4767G>C c.8962G>C c.6128G>C (p.Gly2043Ala) c.9146G>C c.12062G>C (p.Gly4021Ala) c.2216G>C (p.Gly739Ala) c.3418G>C c.1260+503G>C c.3233G>C n.237G>C c.11936G>C (p.Gly3979Ala) n.5865G>C c.12065G>C (p.Gly4022Ala) | |
2 | g.73601384G= | CA1261034003 | ALMS1 | c.11681G= (p.Gly3894=) c.11167-801G= (n.11167-801G=) c.4767G= c.8962G= c.6128G= (p.Gly2043=) c.9146G= c.12062G= (p.Gly4021=) c.2216G= (p.Gly739=) c.3418G= c.1260+503G= c.3233G= n.237G= c.11936G= (p.Gly3979=) n.5865G= c.12065G= (p.Gly4022=) | |
2 | g.73601384G>T | CA347266854 | ALMS1 | c.11681G>T (p.Gly3894Val) c.11167-801G>T (n.11167-801G>T) c.4767G>T c.8962G>T c.6128G>T (p.Gly2043Val) c.9146G>T c.12062G>T (p.Gly4021Val) c.2216G>T (p.Gly739Val) c.3418G>T c.1260+503G>T c.3233G>T n.237G>T c.11936G>T (p.Gly3979Val) n.5865G>T c.12065G>T (p.Gly4022Val) | dbSNP |
2 | g.73601385C>A | CA426783610 | ALMS1 | c.11682C>A (p.Gly3894=) c.11167-800C>A (n.11167-800C>A) c.4768C>A c.8963C>A c.6129C>A (p.Gly2043=) c.9147C>A c.12063C>A (p.Gly4021=) c.2217C>A (p.Gly739=) c.3419C>A c.1260+504C>A c.3234C>A n.238C>A c.11937C>A (p.Gly3979=) n.5866C>A c.12066C>A (p.Gly4022=) | ClinVar dbSNP gnomAD v4 |
2 | g.73601385C= | CA1261034009 | ALMS1 | c.11682C= (p.Gly3894=) c.11167-800C= (n.11167-800C=) c.4768C= c.8963C= c.6129C= (p.Gly2043=) c.9147C= c.12063C= (p.Gly4021=) c.2217C= (p.Gly739=) c.3419C= c.1260+504C= c.3234C= n.238C= c.11937C= (p.Gly3979=) n.5866C= c.12066C= (p.Gly4022=) | |
2 | g.73601385C>G | CA426783611 | ALMS1 | c.11682C>G (p.Gly3894=) c.11167-800C>G (n.11167-800C>G) c.4768C>G c.8963C>G c.6129C>G (p.Gly2043=) c.9147C>G c.12063C>G (p.Gly4021=) c.2217C>G (p.Gly739=) c.3419C>G c.1260+504C>G c.3234C>G n.238C>G c.11937C>G (p.Gly3979=) n.5866C>G c.12066C>G (p.Gly4022=) | gnomAD v4 |
2 | g.73601385C>T | CA1715415 | ALMS1 | c.11682C>T (p.Gly3894=) c.11167-800C>T (n.11167-800C>T) c.4768C>T c.8963C>T c.6129C>T (p.Gly2043=) c.9147C>T c.12063C>T (p.Gly4021=) c.2217C>T (p.Gly739=) c.3419C>T c.1260+504C>T c.3234C>T n.238C>T c.11937C>T (p.Gly3979=) n.5866C>T c.12066C>T (p.Gly4022=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73601386A>C | CA426783612 | ALMS1 | c.11683A>C (p.Arg3895=) c.11167-799A>C (n.11167-799A>C) c.4769A>C c.8964A>C c.6130A>C (p.Arg2044=) c.9148A>C c.12064A>C (p.Arg4022=) c.2218A>C (p.Arg740=) c.3420A>C c.1260+505A>C c.3235A>C n.239A>C c.11938A>C (p.Arg3980=) n.5867A>C c.12067A>C (p.Arg4023=) | |
2 | g.73601386A>G | CA347266860 | ALMS1 | c.11683A>G (p.Arg3895Gly) c.11167-799A>G (n.11167-799A>G) c.4769A>G c.8964A>G c.6130A>G (p.Arg2044Gly) c.9148A>G c.12064A>G (p.Arg4022Gly) c.2218A>G (p.Arg740Gly) c.3420A>G c.1260+505A>G c.3235A>G n.239A>G c.11938A>G (p.Arg3980Gly) n.5867A>G c.12067A>G (p.Arg4023Gly) | gnomAD v4 |
2 | g.73601386A>T | CA347266862 | ALMS1 | c.11683A>T (p.Arg3895Ter) c.11167-799A>T (n.11167-799A>T) c.4769A>T c.8964A>T c.6130A>T (p.Arg2044Ter) c.9148A>T c.12064A>T (p.Arg4022Ter) c.2218A>T (p.Arg740Ter) c.3420A>T c.1260+505A>T c.3235A>T n.239A>T c.11938A>T (p.Arg3980Ter) n.5867A>T c.12067A>T (p.Arg4023Ter) | |
2 | g.73601387G>A | CA347266864 | ALMS1 | c.11684G>A (p.Arg3895Lys) c.11167-798G>A (n.11167-798G>A) c.4770G>A c.8965G>A c.6131G>A (p.Arg2044Lys) c.9149G>A c.12065G>A (p.Arg4022Lys) c.2219G>A (p.Arg740Lys) c.3421G>A c.1260+506G>A c.3236G>A n.240G>A c.11939G>A (p.Arg3980Lys) n.5868G>A c.12068G>A (p.Arg4023Lys) | |
2 | g.73601387G>C | CA347266870 | ALMS1 | c.11684G>C (p.Arg3895Thr) c.11167-798G>C (n.11167-798G>C) c.4770G>C c.8965G>C c.6131G>C (p.Arg2044Thr) c.9149G>C c.12065G>C (p.Arg4022Thr) c.2219G>C (p.Arg740Thr) c.3421G>C c.1260+506G>C c.3236G>C n.240G>C c.11939G>C (p.Arg3980Thr) n.5868G>C c.12068G>C (p.Arg4023Thr) | |
2 | g.73601387G>T | CA347266873 | ALMS1 | c.11684G>T (p.Arg3895Ile) c.11167-798G>T (n.11167-798G>T) c.4770G>T c.8965G>T c.6131G>T (p.Arg2044Ile) c.9149G>T c.12065G>T (p.Arg4022Ile) c.2219G>T (p.Arg740Ile) c.3421G>T c.1260+506G>T c.3236G>T n.240G>T c.11939G>T (p.Arg3980Ile) n.5868G>T c.12068G>T (p.Arg4023Ile) | |
2 | g.73601388A>C | CA347266878 | ALMS1 | c.11685A>C (p.Arg3895Ser) c.11167-797A>C (n.11167-797A>C) c.4771A>C c.8966A>C c.6132A>C (p.Arg2044Ser) c.9150A>C c.12066A>C (p.Arg4022Ser) c.2220A>C (p.Arg740Ser) c.3422A>C c.1260+507A>C c.3237A>C n.241A>C c.11940A>C (p.Arg3980Ser) n.5869A>C c.12069A>C (p.Arg4023Ser) | |
2 | g.73601388A>G | CA426783613 | ALMS1 | c.11685A>G (p.Arg3895=) c.11167-797A>G (n.11167-797A>G) c.4771A>G c.8966A>G c.6132A>G (p.Arg2044=) c.9150A>G c.12066A>G (p.Arg4022=) c.2220A>G (p.Arg740=) c.3422A>G c.1260+507A>G c.3237A>G n.241A>G c.11940A>G (p.Arg3980=) n.5869A>G c.12069A>G (p.Arg4023=) | |
2 | g.73601388A>T | CA347266881 | ALMS1 | c.11685A>T (p.Arg3895Ser) c.11167-797A>T (n.11167-797A>T) c.4771A>T c.8966A>T c.6132A>T (p.Arg2044Ser) c.9150A>T c.12066A>T (p.Arg4022Ser) c.2220A>T (p.Arg740Ser) c.3422A>T c.1260+507A>T c.3237A>T n.241A>T c.11940A>T (p.Arg3980Ser) n.5869A>T c.12069A>T (p.Arg4023Ser) | |
2 | g.73601389G>A | CA347266885 | ALMS1 | c.11686G>A (p.Glu3896Lys) c.11167-796G>A (n.11167-796G>A) c.4772G>A c.8967G>A c.6133G>A (p.Glu2045Lys) c.9151G>A c.12067G>A (p.Glu4023Lys) c.2221G>A (p.Glu741Lys) c.3423G>A c.1260+508G>A c.3238G>A n.242G>A c.11941G>A (p.Glu3981Lys) n.5870G>A c.12070G>A (p.Glu4024Lys) | dbSNP gnomAD v4 |
2 | g.73601389G>C | CA347266888 | ALMS1 | c.11686G>C (p.Glu3896Gln) c.11167-796G>C (n.11167-796G>C) c.4772G>C c.8967G>C c.6133G>C (p.Glu2045Gln) c.9151G>C c.12067G>C (p.Glu4023Gln) c.2221G>C (p.Glu741Gln) c.3423G>C c.1260+508G>C c.3238G>C n.242G>C c.11941G>C (p.Glu3981Gln) n.5870G>C c.12070G>C (p.Glu4024Gln) | |
2 | g.73601389G= | CA1261034012 | ALMS1 | c.11686G= (p.Glu3896=) c.11167-796G= (n.11167-796G=) c.4772G= c.8967G= c.6133G= (p.Glu2045=) c.9151G= c.12067G= (p.Glu4023=) c.2221G= (p.Glu741=) c.3423G= c.1260+508G= c.3238G= n.242G= c.11941G= (p.Glu3981=) n.5870G= c.12070G= (p.Glu4024=) | |
2 | g.73601389G>T | CA347266892 | ALMS1 | c.11686G>T (p.Glu3896Ter) c.11167-796G>T (n.11167-796G>T) c.4772G>T c.8967G>T c.6133G>T (p.Glu2045Ter) c.9151G>T c.12067G>T (p.Glu4023Ter) c.2221G>T (p.Glu741Ter) c.3423G>T c.1260+508G>T c.3238G>T n.242G>T c.11941G>T (p.Glu3981Ter) n.5870G>T c.12070G>T (p.Glu4024Ter) | |
2 | g.73601390A= | CA1261034016 | ALMS1 | c.11687A= (p.Glu3896=) c.11167-795A= (n.11167-795A=) c.4773A= c.8968A= c.6134A= (p.Glu2045=) c.9152A= c.12068A= (p.Glu4023=) c.2222A= (p.Glu741=) c.3424A= c.1260+509A= c.3239A= n.243A= c.11942A= (p.Glu3981=) n.5871A= c.12071A= (p.Glu4024=) | |
2 | g.73601390A>C | CA347266898 | ALMS1 | c.11687A>C (p.Glu3896Ala) c.11167-795A>C (n.11167-795A>C) c.4773A>C c.8968A>C c.6134A>C (p.Glu2045Ala) c.9152A>C c.12068A>C (p.Glu4023Ala) c.2222A>C (p.Glu741Ala) c.3424A>C c.1260+509A>C c.3239A>C n.243A>C c.11942A>C (p.Glu3981Ala) n.5871A>C c.12071A>C (p.Glu4024Ala) | |
2 | g.73601390A>G | CA1715416 | ALMS1 | c.11687A>G (p.Glu3896Gly) c.11167-795A>G (n.11167-795A>G) c.4773A>G c.8968A>G c.6134A>G (p.Glu2045Gly) c.9152A>G c.12068A>G (p.Glu4023Gly) c.2222A>G (p.Glu741Gly) c.3424A>G c.1260+509A>G c.3239A>G n.243A>G c.11942A>G (p.Glu3981Gly) n.5871A>G c.12071A>G (p.Glu4024Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73601390A>T | CA347266904 | ALMS1 | c.11687A>T (p.Glu3896Val) c.11167-795A>T (n.11167-795A>T) c.4773A>T c.8968A>T c.6134A>T (p.Glu2045Val) c.9152A>T c.12068A>T (p.Glu4023Val) c.2222A>T (p.Glu741Val) c.3424A>T c.1260+509A>T c.3239A>T n.243A>T c.11942A>T (p.Glu3981Val) n.5871A>T c.12071A>T (p.Glu4024Val) | |
2 | g.73601391G>A | CA426783614 | ALMS1 | c.11688G>A (p.Glu3896=) c.11167-794G>A (n.11167-794G>A) c.4774G>A c.8969G>A c.6135G>A (p.Glu2045=) c.9153G>A c.12069G>A (p.Glu4023=) c.2223G>A (p.Glu741=) c.3425G>A c.1260+510G>A c.3240G>A n.244G>A c.11943G>A (p.Glu3981=) n.5872G>A c.12072G>A (p.Glu4024=) | |
2 | g.73601391G>C | CA347266911 | ALMS1 | c.11688G>C (p.Glu3896Asp) c.11167-794G>C (n.11167-794G>C) c.4774G>C c.8969G>C c.6135G>C (p.Glu2045Asp) c.9153G>C c.12069G>C (p.Glu4023Asp) c.2223G>C (p.Glu741Asp) c.3425G>C c.1260+510G>C c.3240G>C n.244G>C c.11943G>C (p.Glu3981Asp) n.5872G>C c.12072G>C (p.Glu4024Asp) | gnomAD v4 |
2 | g.73601391G>T | CA347266908 | ALMS1 | c.11688G>T (p.Glu3896Asp) c.11167-794G>T (n.11167-794G>T) c.4774G>T c.8969G>T c.6135G>T (p.Glu2045Asp) c.9153G>T c.12069G>T (p.Glu4023Asp) c.2223G>T (p.Glu741Asp) c.3425G>T c.1260+510G>T c.3240G>T n.244G>T c.11943G>T (p.Glu3981Asp) n.5872G>T c.12072G>T (p.Glu4024Asp) | |
2 | g.73601392G>A | CA347266917 | ALMS1 | c.11689G>A (p.Ala3897Thr) c.11167-793G>A (n.11167-793G>A) c.4775G>A c.8970G>A c.6136G>A (p.Ala2046Thr) c.9154G>A c.12070G>A (p.Ala4024Thr) c.2224G>A (p.Ala742Thr) c.3426G>A c.1260+511G>A c.3241G>A n.245G>A c.11944G>A (p.Ala3982Thr) n.5873G>A c.12073G>A (p.Ala4025Thr) | |
2 | g.73601392G>C | CA347266919 | ALMS1 | c.11689G>C (p.Ala3897Pro) c.11167-793G>C (n.11167-793G>C) c.4775G>C c.8970G>C c.6136G>C (p.Ala2046Pro) c.9154G>C c.12070G>C (p.Ala4024Pro) c.2224G>C (p.Ala742Pro) c.3426G>C c.1260+511G>C c.3241G>C n.245G>C c.11944G>C (p.Ala3982Pro) n.5873G>C c.12073G>C (p.Ala4025Pro) | |
2 | g.73601392G= | CA1261034021 | ALMS1 | c.11689G= (p.Ala3897=) c.11167-793G= (n.11167-793G=) c.4775G= c.8970G= c.6136G= (p.Ala2046=) c.9154G= c.12070G= (p.Ala4024=) c.2224G= (p.Ala742=) c.3426G= c.1260+511G= c.3241G= n.245G= c.11944G= (p.Ala3982=) n.5873G= c.12073G= (p.Ala4025=) | |
2 | g.73601392G>T | CA347266923 | ALMS1 | c.11689G>T (p.Ala3897Ser) c.11167-793G>T (n.11167-793G>T) c.4775G>T c.8970G>T c.6136G>T (p.Ala2046Ser) c.9154G>T c.12070G>T (p.Ala4024Ser) c.2224G>T (p.Ala742Ser) c.3426G>T c.1260+511G>T c.3241G>T n.245G>T c.11944G>T (p.Ala3982Ser) n.5873G>T c.12073G>T (p.Ala4025Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73601393C>A | CA347266928 | ALMS1 | c.11690C>A (p.Ala3897Asp) c.11167-792C>A (n.11167-792C>A) c.4776C>A c.8971C>A c.6137C>A (p.Ala2046Asp) c.9155C>A c.12071C>A (p.Ala4024Asp) c.2225C>A (p.Ala742Asp) c.3427C>A c.1260+512C>A c.3242C>A n.246C>A c.11945C>A (p.Ala3982Asp) n.5874C>A c.12074C>A (p.Ala4025Asp) | ClinVar dbSNP gnomAD v4 |
2 | g.73601393C= | CA1261034024 | ALMS1 | c.11690C= (p.Ala3897=) c.11167-792C= (n.11167-792C=) c.4776C= c.8971C= c.6137C= (p.Ala2046=) c.9155C= c.12071C= (p.Ala4024=) c.2225C= (p.Ala742=) c.3427C= c.1260+512C= c.3242C= n.246C= c.11945C= (p.Ala3982=) n.5874C= c.12074C= (p.Ala4025=) | |
2 | g.73601393C>G | CA347266929 | ALMS1 | c.11690C>G (p.Ala3897Gly) c.11167-792C>G (n.11167-792C>G) c.4776C>G c.8971C>G c.6137C>G (p.Ala2046Gly) c.9155C>G c.12071C>G (p.Ala4024Gly) c.2225C>G (p.Ala742Gly) c.3427C>G c.1260+512C>G c.3242C>G n.246C>G c.11945C>G (p.Ala3982Gly) n.5874C>G c.12074C>G (p.Ala4025Gly) | gnomAD v4 |
2 | g.73601393C>T | CA50337416 | ALMS1 | c.11690C>T (p.Ala3897Val) c.11167-792C>T (n.11167-792C>T) c.4776C>T c.8971C>T c.6137C>T (p.Ala2046Val) c.9155C>T c.12071C>T (p.Ala4024Val) c.2225C>T (p.Ala742Val) c.3427C>T c.1260+512C>T c.3242C>T n.246C>T c.11945C>T (p.Ala3982Val) n.5874C>T c.12074C>T (p.Ala4025Val) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73601394T>A | CA426783615 | ALMS1 | c.11691T>A (p.Ala3897=) c.11167-791T>A (n.11167-791T>A) c.4777T>A c.8972T>A c.6138T>A (p.Ala2046=) c.9156T>A c.12072T>A (p.Ala4024=) c.2226T>A (p.Ala742=) c.3428T>A c.1260+513T>A c.3243T>A n.247T>A c.11946T>A (p.Ala3982=) n.5875T>A c.12075T>A (p.Ala4025=) | |
2 | g.73601394T>C | CA426783617 | ALMS1 | c.11691T>C (p.Ala3897=) c.11167-791T>C (n.11167-791T>C) c.4777T>C c.8972T>C c.6138T>C (p.Ala2046=) c.9156T>C c.12072T>C (p.Ala4024=) c.2226T>C (p.Ala742=) c.3428T>C c.1260+513T>C c.3243T>C n.247T>C c.11946T>C (p.Ala3982=) n.5875T>C c.12075T>C (p.Ala4025=) | |
2 | g.73601394T>G | CA426783616 | ALMS1 | c.11691T>G (p.Ala3897=) c.11167-791T>G (n.11167-791T>G) c.4777T>G c.8972T>G c.6138T>G (p.Ala2046=) c.9156T>G c.12072T>G (p.Ala4024=) c.2226T>G (p.Ala742=) c.3428T>G c.1260+513T>G c.3243T>G n.247T>G c.11946T>G (p.Ala3982=) n.5875T>G c.12075T>G (p.Ala4025=) | |
2 | g.73601395G>A | CA347266936 | ALMS1 | c.11692G>A (p.Gly3898Ser) c.11167-790G>A (n.11167-790G>A) c.4778G>A c.8973G>A c.6139G>A (p.Gly2047Ser) c.9157G>A c.12073G>A (p.Gly4025Ser) c.2227G>A (p.Gly743Ser) c.3429G>A c.1260+514G>A c.3244G>A n.248G>A c.11947G>A (p.Gly3983Ser) n.5876G>A c.12076G>A (p.Gly4026Ser) | gnomAD v4 |
2 | g.73601395G>C | CA347266942 | ALMS1 | c.11692G>C (p.Gly3898Arg) c.11167-790G>C (n.11167-790G>C) c.4778G>C c.8973G>C c.6139G>C (p.Gly2047Arg) c.9157G>C c.12073G>C (p.Gly4025Arg) c.2227G>C (p.Gly743Arg) c.3429G>C c.1260+514G>C c.3244G>C n.248G>C c.11947G>C (p.Gly3983Arg) n.5876G>C c.12076G>C (p.Gly4026Arg) | |
2 | g.73601395G>T | CA347266940 | ALMS1 | c.11692G>T (p.Gly3898Cys) c.11167-790G>T (n.11167-790G>T) c.4778G>T c.8973G>T c.6139G>T (p.Gly2047Cys) c.9157G>T c.12073G>T (p.Gly4025Cys) c.2227G>T (p.Gly743Cys) c.3429G>T c.1260+514G>T c.3244G>T n.248G>T c.11947G>T (p.Gly3983Cys) n.5876G>T c.12076G>T (p.Gly4026Cys) | |
2 | g.73601396G>A | CA1715417 | ALMS1 | c.11693G>A (p.Gly3898Asp) c.11167-789G>A (n.11167-789G>A) c.4779G>A c.8974G>A c.6140G>A (p.Gly2047Asp) c.9158G>A c.12074G>A (p.Gly4025Asp) c.2228G>A (p.Gly743Asp) c.3430G>A c.1260+515G>A c.3245G>A n.249G>A c.11948G>A (p.Gly3983Asp) n.5877G>A c.12077G>A (p.Gly4026Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73601396G>C | CA347266951 | ALMS1 | c.11693G>C (p.Gly3898Ala) c.11167-789G>C (n.11167-789G>C) c.4779G>C c.8974G>C c.6140G>C (p.Gly2047Ala) c.9158G>C c.12074G>C (p.Gly4025Ala) c.2228G>C (p.Gly743Ala) c.3430G>C c.1260+515G>C c.3245G>C n.249G>C c.11948G>C (p.Gly3983Ala) n.5877G>C c.12077G>C (p.Gly4026Ala) | gnomAD v4 |
2 | g.73601396G= | CA1261034035 | ALMS1 | c.11693G= (p.Gly3898=) c.11167-789G= (n.11167-789G=) c.4779G= c.8974G= c.6140G= (p.Gly2047=) c.9158G= c.12074G= (p.Gly4025=) c.2228G= (p.Gly743=) c.3430G= c.1260+515G= c.3245G= n.249G= c.11948G= (p.Gly3983=) n.5877G= c.12077G= (p.Gly4026=) | |
2 | g.73601396G>T | CA347266953 | ALMS1 | c.11693G>T (p.Gly3898Val) c.11167-789G>T (n.11167-789G>T) c.4779G>T c.8974G>T c.6140G>T (p.Gly2047Val) c.9158G>T c.12074G>T (p.Gly4025Val) c.2228G>T (p.Gly743Val) c.3430G>T c.1260+515G>T c.3245G>T n.249G>T c.11948G>T (p.Gly3983Val) n.5877G>T c.12077G>T (p.Gly4026Val) | |
2 | g.73601396_73601397del | CA913090878 | ALMS1 | c.11693_11694del (p.Gly3898GlufsTer22) c.11167-789_11167-788del (n.11167-789_11167-788del) c.4779_4780del c.8974_8975del c.6140_6141del (p.Gly2047GlufsTer22) c.9158_9159del c.12074_12075del (p.Gly4025GlufsTer22) c.2228_2229del (p.Gly743GlufsTer22) c.3430_3431del c.1260+515_1260+516del c.3245_3246del n.249_250del c.11948_11949del (p.Gly3983GlufsTer22) n.5877_5878del c.12077_12078del (p.Gly4026GlufsTer22) | |
2 | g.73601396_73601397delinsGC | CA1261034032 | ALMS1 | c.11693_11694delinsGC (p.Gly3898=) c.11167-789_11167-788delinsGC (n.11167-789_11167-788delinsGC) c.4779_4780delinsGC c.8974_8975delinsGC c.6140_6141delinsGC (p.Gly2047=) c.9158_9159delinsGC c.12074_12075delinsGC (p.Gly4025=) c.2228_2229delinsGC (p.Gly743=) c.3430_3431delinsGC c.1260+515_1260+516delinsGC c.3245_3246delinsGC n.249_250delinsGC c.11948_11949delinsGC (p.Gly3983=) n.5877_5878delinsGC c.12077_12078delinsGC (p.Gly4026=) | |
2 | g.73601397del | CA658822844 | ALMS1 | c.11694del (p.Arg3899GlufsTer4) c.11167-788del (n.11167-788del) c.4780del c.8975del c.6141del (p.Arg2048GlufsTer4) c.9159del c.12075del (p.Arg4026GlufsTer4) c.2229del (p.Arg744GlufsTer4) c.3431del c.1260+516del c.3246del n.250del c.11949del (p.Arg3984GlufsTer4) n.5878del c.12078del (p.Arg4027GlufsTer4) | ClinVar dbSNP |
2 | g.73601397C>A | CA426783618 | ALMS1 | c.11694C>A (p.Gly3898=) c.11167-788C>A (n.11167-788C>A) c.4780C>A c.8975C>A c.6141C>A (p.Gly2047=) c.9159C>A c.12075C>A (p.Gly4025=) c.2229C>A (p.Gly743=) c.3431C>A c.1260+516C>A c.3246C>A n.250C>A c.11949C>A (p.Gly3983=) n.5878C>A c.12078C>A (p.Gly4026=) | |
2 | g.73601397C= | CA1261034038 | ALMS1 | c.11694C= (p.Gly3898=) c.11167-788C= (n.11167-788C=) c.4780C= c.8975C= c.6141C= (p.Gly2047=) c.9159C= c.12075C= (p.Gly4025=) c.2229C= (p.Gly743=) c.3431C= c.1260+516C= c.3246C= n.250C= c.11949C= (p.Gly3983=) n.5878C= c.12078C= (p.Gly4026=) | |
2 | g.73601397C>G | CA426783619 | ALMS1 | c.11694C>G (p.Gly3898=) c.11167-788C>G (n.11167-788C>G) c.4780C>G c.8975C>G c.6141C>G (p.Gly2047=) c.9159C>G c.12075C>G (p.Gly4025=) c.2229C>G (p.Gly743=) c.3431C>G c.1260+516C>G c.3246C>G n.250C>G c.11949C>G (p.Gly3983=) n.5878C>G c.12078C>G (p.Gly4026=) | dbSNP |
2 | g.73601397C>T | CA426783620 | ALMS1 | c.11694C>T (p.Gly3898=) c.11167-788C>T (n.11167-788C>T) c.4780C>T c.8975C>T c.6141C>T (p.Gly2047=) c.9159C>T c.12075C>T (p.Gly4025=) c.2229C>T (p.Gly743=) c.3431C>T c.1260+516C>T c.3246C>T n.250C>T c.11949C>T (p.Gly3983=) n.5878C>T c.12078C>T (p.Gly4026=) | |
2 | g.73601398A= | CA1261034045 | ALMS1 | c.11695A= (p.Arg3899=) c.11167-787A= (n.11167-787A=) c.4781A= c.8976A= c.6142A= (p.Arg2048=) c.9160A= c.12076A= (p.Arg4026=) c.2230A= (p.Arg744=) c.3432A= c.1260+517A= c.3247A= n.251A= c.11950A= (p.Arg3984=) n.5879A= c.12079A= (p.Arg4027=) | |
2 | g.73601398A>C | CA426783621 | ALMS1 | c.11695A>C (p.Arg3899=) c.11167-787A>C (n.11167-787A>C) c.4781A>C c.8976A>C c.6142A>C (p.Arg2048=) c.9160A>C c.12076A>C (p.Arg4026=) c.2230A>C (p.Arg744=) c.3432A>C c.1260+517A>C c.3247A>C n.251A>C c.11950A>C (p.Arg3984=) n.5879A>C c.12079A>C (p.Arg4027=) | |
2 | g.73601398A>G | CA1715418 | ALMS1 | c.11695A>G (p.Arg3899Gly) c.11167-787A>G (n.11167-787A>G) c.4781A>G c.8976A>G c.6142A>G (p.Arg2048Gly) c.9160A>G c.12076A>G (p.Arg4026Gly) c.2230A>G (p.Arg744Gly) c.3432A>G c.1260+517A>G c.3247A>G n.251A>G c.11950A>G (p.Arg3984Gly) n.5879A>G c.12079A>G (p.Arg4027Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73601398A>T | CA347266960 | ALMS1 | c.11695A>T (p.Arg3899Ter) c.11167-787A>T (n.11167-787A>T) c.4781A>T c.8976A>T c.6142A>T (p.Arg2048Ter) c.9160A>T c.12076A>T (p.Arg4026Ter) c.2230A>T (p.Arg744Ter) c.3432A>T c.1260+517A>T c.3247A>T n.251A>T c.11950A>T (p.Arg3984Ter) n.5879A>T c.12079A>T (p.Arg4027Ter) | |
2 | g.73601399G>A | CA347266964 | ALMS1 | c.11696G>A (p.Arg3899Lys) c.11167-786G>A (n.11167-786G>A) c.4782G>A c.8977G>A c.6143G>A (p.Arg2048Lys) c.9161G>A c.12077G>A (p.Arg4026Lys) c.2231G>A (p.Arg744Lys) c.3433G>A c.1260+518G>A c.3248G>A n.252G>A c.11951G>A (p.Arg3984Lys) n.5880G>A c.12080G>A (p.Arg4027Lys) | |
2 | g.73601399G>C | CA347266968 | ALMS1 | c.11696G>C (p.Arg3899Thr) c.11167-786G>C (n.11167-786G>C) c.4782G>C c.8977G>C c.6143G>C (p.Arg2048Thr) c.9161G>C c.12077G>C (p.Arg4026Thr) c.2231G>C (p.Arg744Thr) c.3433G>C c.1260+518G>C c.3248G>C n.252G>C c.11951G>C (p.Arg3984Thr) n.5880G>C c.12080G>C (p.Arg4027Thr) | |
2 | g.73601399G>T | CA347266971 | ALMS1 | c.11696G>T (p.Arg3899Ile) c.11167-786G>T (n.11167-786G>T) c.4782G>T c.8977G>T c.6143G>T (p.Arg2048Ile) c.9161G>T c.12077G>T (p.Arg4026Ile) c.2231G>T (p.Arg744Ile) c.3433G>T c.1260+518G>T c.3248G>T n.252G>T c.11951G>T (p.Arg3984Ile) n.5880G>T c.12080G>T (p.Arg4027Ile) | |
2 | g.73601400A>C | CA347266978 | ALMS1 | c.11697A>C (p.Arg3899Ser) c.11167-785A>C (n.11167-785A>C) c.4783A>C c.8978A>C c.6144A>C (p.Arg2048Ser) c.9162A>C c.12078A>C (p.Arg4026Ser) c.2232A>C (p.Arg744Ser) c.3434A>C c.1260+519A>C c.3249A>C n.253A>C c.11952A>C (p.Arg3984Ser) n.5881A>C c.12081A>C (p.Arg4027Ser) | |
2 | g.73601400A>G | CA426783622 | ALMS1 | c.11697A>G (p.Arg3899=) c.11167-785A>G (n.11167-785A>G) c.4783A>G c.8978A>G c.6144A>G (p.Arg2048=) c.9162A>G c.12078A>G (p.Arg4026=) c.2232A>G (p.Arg744=) c.3434A>G c.1260+519A>G c.3249A>G n.253A>G c.11952A>G (p.Arg3984=) n.5881A>G c.12081A>G (p.Arg4027=) | |
2 | g.73601400A>T | CA347266981 | ALMS1 | c.11697A>T (p.Arg3899Ser) c.11167-785A>T (n.11167-785A>T) c.4783A>T c.8978A>T c.6144A>T (p.Arg2048Ser) c.9162A>T c.12078A>T (p.Arg4026Ser) c.2232A>T (p.Arg744Ser) c.3434A>T c.1260+519A>T c.3249A>T n.253A>T c.11952A>T (p.Arg3984Ser) n.5881A>T c.12081A>T (p.Arg4027Ser) | |
2 | g.73601401G>A | CA347266992 | ALMS1 | c.11698G>A (p.Asp3900Asn) c.11167-784G>A (n.11167-784G>A) c.4784G>A c.8979G>A c.6145G>A (p.Asp2049Asn) c.9163G>A c.12079G>A (p.Asp4027Asn) c.2233G>A (p.Asp745Asn) c.3435G>A c.1260+520G>A c.3250G>A n.254G>A c.11953G>A (p.Asp3985Asn) n.5882G>A c.12082G>A (p.Asp4028Asn) | |
2 | g.73601401G>C | CA347266989 | ALMS1 | c.11698G>C (p.Asp3900His) c.11167-784G>C (n.11167-784G>C) c.4784G>C c.8979G>C c.6145G>C (p.Asp2049His) c.9163G>C c.12079G>C (p.Asp4027His) c.2233G>C (p.Asp745His) c.3435G>C c.1260+520G>C c.3250G>C n.254G>C c.11953G>C (p.Asp3985His) n.5882G>C c.12082G>C (p.Asp4028His) | dbSNP |
2 | g.73601401G= | CA1261034051 | ALMS1 | c.11698G= (p.Asp3900=) c.11167-784G= (n.11167-784G=) c.4784G= c.8979G= c.6145G= (p.Asp2049=) c.9163G= c.12079G= (p.Asp4027=) c.2233G= (p.Asp745=) c.3435G= c.1260+520G= c.3250G= n.254G= c.11953G= (p.Asp3985=) n.5882G= c.12082G= (p.Asp4028=) | |
2 | g.73601401G>T | CA347266986 | ALMS1 | c.11698G>T (p.Asp3900Tyr) c.11167-784G>T (n.11167-784G>T) c.4784G>T c.8979G>T c.6145G>T (p.Asp2049Tyr) c.9163G>T c.12079G>T (p.Asp4027Tyr) c.2233G>T (p.Asp745Tyr) c.3435G>T c.1260+520G>T c.3250G>T n.254G>T c.11953G>T (p.Asp3985Tyr) n.5882G>T c.12082G>T (p.Asp4028Tyr) | |
2 | g.73601402A= | CA1261034053 | ALMS1 | c.11699A= (p.Asp3900=) c.11167-783A= (n.11167-783A=) c.4785A= c.8980A= c.6146A= (p.Asp2049=) c.9164A= c.12080A= (p.Asp4027=) c.2234A= (p.Asp745=) c.3436A= c.1260+521A= c.3251A= n.255A= c.11954A= (p.Asp3985=) n.5883A= c.12083A= (p.Asp4028=) | |
2 | g.73601402A>C | CA347266996 | ALMS1 | c.11699A>C (p.Asp3900Ala) c.11167-783A>C (n.11167-783A>C) c.4785A>C c.8980A>C c.6146A>C (p.Asp2049Ala) c.9164A>C c.12080A>C (p.Asp4027Ala) c.2234A>C (p.Asp745Ala) c.3436A>C c.1260+521A>C c.3251A>C n.255A>C c.11954A>C (p.Asp3985Ala) n.5883A>C c.12083A>C (p.Asp4028Ala) | |
2 | g.73601402A>G | CA347267003 | ALMS1 | c.11699A>G (p.Asp3900Gly) c.11167-783A>G (n.11167-783A>G) c.4785A>G c.8980A>G c.6146A>G (p.Asp2049Gly) c.9164A>G c.12080A>G (p.Asp4027Gly) c.2234A>G (p.Asp745Gly) c.3436A>G c.1260+521A>G c.3251A>G n.255A>G c.11954A>G (p.Asp3985Gly) n.5883A>G c.12083A>G (p.Asp4028Gly) | dbSNP gnomAD v2 |
2 | g.73601402A>T | CA347266997 | ALMS1 | c.11699A>T (p.Asp3900Val) c.11167-783A>T (n.11167-783A>T) c.4785A>T c.8980A>T c.6146A>T (p.Asp2049Val) c.9164A>T c.12080A>T (p.Asp4027Val) c.2234A>T (p.Asp745Val) c.3436A>T c.1260+521A>T c.3251A>T n.255A>T c.11954A>T (p.Asp3985Val) n.5883A>T c.12083A>T (p.Asp4028Val) | |
2 | g.73601403C>A | CA347267008 | ALMS1 | c.11700C>A (p.Asp3900Glu) c.11167-782C>A (n.11167-782C>A) c.4786C>A c.8981C>A c.6147C>A (p.Asp2049Glu) c.9165C>A c.12081C>A (p.Asp4027Glu) c.2235C>A (p.Asp745Glu) c.3437C>A c.1260+522C>A c.3252C>A n.256C>A c.11955C>A (p.Asp3985Glu) n.5884C>A c.12084C>A (p.Asp4028Glu) | |
2 | g.73601403C= | CA1261034057 | ALMS1 | c.11700C= (p.Asp3900=) c.11167-782C= (n.11167-782C=) c.4786C= c.8981C= c.6147C= (p.Asp2049=) c.9165C= c.12081C= (p.Asp4027=) c.2235C= (p.Asp745=) c.3437C= c.1260+522C= c.3252C= n.256C= c.11955C= (p.Asp3985=) n.5884C= c.12084C= (p.Asp4028=) | |
2 | g.73601403C>G | CA347267011 | ALMS1 | c.11700C>G (p.Asp3900Glu) c.11167-782C>G (n.11167-782C>G) c.4786C>G c.8981C>G c.6147C>G (p.Asp2049Glu) c.9165C>G c.12081C>G (p.Asp4027Glu) c.2235C>G (p.Asp745Glu) c.3437C>G c.1260+522C>G c.3252C>G n.256C>G c.11955C>G (p.Asp3985Glu) n.5884C>G c.12084C>G (p.Asp4028Glu) | |
2 | g.73601403C>T | CA426783623 | ALMS1 | c.11700C>T (p.Asp3900=) c.11167-782C>T (n.11167-782C>T) c.4786C>T c.8981C>T c.6147C>T (p.Asp2049=) c.9165C>T c.12081C>T (p.Asp4027=) c.2235C>T (p.Asp745=) c.3437C>T c.1260+522C>T c.3252C>T n.256C>T c.11955C>T (p.Asp3985=) n.5884C>T c.12084C>T (p.Asp4028=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73601404C>A | CA347267015 | ALMS1 | c.11701C>A (p.Leu3901Ile) c.11167-781C>A (n.11167-781C>A) c.4787C>A c.8982C>A c.6148C>A (p.Leu2050Ile) c.9166C>A c.12082C>A (p.Leu4028Ile) c.2236C>A (p.Leu746Ile) c.3438C>A c.1260+523C>A c.3253C>A n.257C>A c.11956C>A (p.Leu3986Ile) n.5885C>A c.12085C>A (p.Leu4029Ile) | |
2 | g.73601404C>G | CA347267020 | ALMS1 | c.11701C>G (p.Leu3901Val) c.11167-781C>G (n.11167-781C>G) c.4787C>G c.8982C>G c.6148C>G (p.Leu2050Val) c.9166C>G c.12082C>G (p.Leu4028Val) c.2236C>G (p.Leu746Val) c.3438C>G c.1260+523C>G c.3253C>G n.257C>G c.11956C>G (p.Leu3986Val) n.5885C>G c.12085C>G (p.Leu4029Val) | |
2 | g.73601404C>T | CA426783624 | ALMS1 | c.11701C>T (p.Leu3901=) c.11167-781C>T (n.11167-781C>T) c.4787C>T c.8982C>T c.6148C>T (p.Leu2050=) c.9166C>T c.12082C>T (p.Leu4028=) c.2236C>T (p.Leu746=) c.3438C>T c.1260+523C>T c.3253C>T n.257C>T c.11956C>T (p.Leu3986=) n.5885C>T c.12085C>T (p.Leu4029=) | |
2 | g.73601404_73601408del | CA913090879 | ALMS1 | c.11701_11705del (p.Leu3901GlufsTer18) c.11167-781_11167-777del (n.11167-781_11167-777del) c.4787_4791del c.8982_8986del c.6148_6152del (p.Leu2050GlufsTer18) c.9166_9170del c.12082_12086del (p.Leu4028GlufsTer18) c.2236_2240del (p.Leu746GlufsTer18) c.3438_3442del c.1260+523_1260+527del c.3253_3257del n.257_261del c.11956_11960del (p.Leu3986GlufsTer18) n.5885_5889del c.12085_12089del (p.Leu4029GlufsTer18) | |
2 | g.73601404_73601408delinsCTACT | CA1261034060 | ALMS1 | c.11701_11705delinsCTACT (p.Leu3901=) c.11167-781_11167-777delinsCTACT (n.11167-781_11167-777delinsCTACT) c.4787_4791delinsCTACT c.8982_8986delinsCTACT c.6148_6152delinsCTACT (p.Leu2050=) c.9166_9170delinsCTACT c.12082_12086delinsCTACT (p.Leu4028=) c.2236_2240delinsCTACT (p.Leu746=) c.3438_3442delinsCTACT c.1260+523_1260+527delinsCTACT c.3253_3257delinsCTACT n.257_261delinsCTACT c.11956_11960delinsCTACT (p.Leu3986=) n.5885_5889delinsCTACT c.12085_12089delinsCTACT (p.Leu4029=) | |
2 | g.73601405T>A | CA347267024 | ALMS1 | c.11702T>A (p.Leu3901Gln) c.11167-780T>A (n.11167-780T>A) c.4788T>A c.8983T>A c.6149T>A (p.Leu2050Gln) c.9167T>A c.12083T>A (p.Leu4028Gln) c.2237T>A (p.Leu746Gln) c.3439T>A c.1260+524T>A c.3254T>A n.258T>A c.11957T>A (p.Leu3986Gln) n.5886T>A c.12086T>A (p.Leu4029Gln) | |
2 | g.73601405T>C | CA347267027 | ALMS1 | c.11702T>C (p.Leu3901Pro) c.11167-780T>C (n.11167-780T>C) c.4788T>C c.8983T>C c.6149T>C (p.Leu2050Pro) c.9167T>C c.12083T>C (p.Leu4028Pro) c.2237T>C (p.Leu746Pro) c.3439T>C c.1260+524T>C c.3254T>C n.258T>C c.11957T>C (p.Leu3986Pro) n.5886T>C c.12086T>C (p.Leu4029Pro) | |
2 | g.73601405T>G | CA347267031 | ALMS1 | c.11702T>G (p.Leu3901Arg) c.11167-780T>G (n.11167-780T>G) c.4788T>G c.8983T>G c.6149T>G (p.Leu2050Arg) c.9167T>G c.12083T>G (p.Leu4028Arg) c.2237T>G (p.Leu746Arg) c.3439T>G c.1260+524T>G c.3254T>G n.258T>G c.11957T>G (p.Leu3986Arg) n.5886T>G c.12086T>G (p.Leu4029Arg) | |
2 | g.73601405_73601408del | CA658822845 | ALMS1 | c.11702_11705del (p.Leu3901ArgfsTer5) c.11167-780_11167-777del (n.11167-780_11167-777del) c.4788_4791del c.8983_8986del c.6149_6152del (p.Leu2050ArgfsTer5) c.9167_9170del c.12083_12086del (p.Leu4028ArgfsTer5) c.2237_2240del (p.Leu746ArgfsTer5) c.3439_3442del c.1260+524_1260+527del c.3254_3257del n.258_261del c.11957_11960del (p.Leu3986ArgfsTer5) n.5886_5889del c.12086_12089del (p.Leu4029ArgfsTer5) | ClinVar dbSNP |
2 | g.73601406A= | CA1261034067 | ALMS1 | c.11703A= (p.Leu3901=) c.11167-779A= (n.11167-779A=) c.4789A= c.8984A= c.6150A= (p.Leu2050=) c.9168A= c.12084A= (p.Leu4028=) c.2238A= (p.Leu746=) c.3440A= c.1260+525A= c.3255A= n.259A= c.11958A= (p.Leu3986=) n.5887A= c.12087A= (p.Leu4029=) | |
2 | g.73601406A>C | CA426783625 | ALMS1 | c.11703A>C (p.Leu3901=) c.11167-779A>C (n.11167-779A>C) c.4789A>C c.8984A>C c.6150A>C (p.Leu2050=) c.9168A>C c.12084A>C (p.Leu4028=) c.2238A>C (p.Leu746=) c.3440A>C c.1260+525A>C c.3255A>C n.259A>C c.11958A>C (p.Leu3986=) n.5887A>C c.12087A>C (p.Leu4029=) | gnomAD v4 |
2 | g.73601406A>G | CA426783626 | ALMS1 | c.11703A>G (p.Leu3901=) c.11167-779A>G (n.11167-779A>G) c.4789A>G c.8984A>G c.6150A>G (p.Leu2050=) c.9168A>G c.12084A>G (p.Leu4028=) c.2238A>G (p.Leu746=) c.3440A>G c.1260+525A>G c.3255A>G n.259A>G c.11958A>G (p.Leu3986=) n.5887A>G c.12087A>G (p.Leu4029=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.73601406A>T | CA426783627 | ALMS1 | c.11703A>T (p.Leu3901=) c.11167-779A>T (n.11167-779A>T) c.4789A>T c.8984A>T c.6150A>T (p.Leu2050=) c.9168A>T c.12084A>T (p.Leu4028=) c.2238A>T (p.Leu746=) c.3440A>T c.1260+525A>T c.3255A>T n.259A>T c.11958A>T (p.Leu3986=) n.5887A>T c.12087A>T (p.Leu4029=) | |
2 | g.73601407C>A | CA347267035 | ALMS1 | c.11704C>A (p.Leu3902Met) c.11167-778C>A (n.11167-778C>A) c.4790C>A c.8985C>A c.6151C>A (p.Leu2051Met) c.9169C>A c.12085C>A (p.Leu4029Met) c.2239C>A (p.Leu747Met) c.3441C>A c.1260+526C>A c.3256C>A n.260C>A c.11959C>A (p.Leu3987Met) n.5888C>A c.12088C>A (p.Leu4030Met) | |
2 | g.73601407C>G | CA347267038 | ALMS1 | c.11704C>G (p.Leu3902Val) c.11167-778C>G (n.11167-778C>G) c.4790C>G c.8985C>G c.6151C>G (p.Leu2051Val) c.9169C>G c.12085C>G (p.Leu4029Val) c.2239C>G (p.Leu747Val) c.3441C>G c.1260+526C>G c.3256C>G n.260C>G c.11959C>G (p.Leu3987Val) n.5888C>G c.12088C>G (p.Leu4030Val) | |
2 | g.73601407C>T | CA426783628 | ALMS1 | c.11704C>T (p.Leu3902=) c.11167-778C>T (n.11167-778C>T) c.4790C>T c.8985C>T c.6151C>T (p.Leu2051=) c.9169C>T c.12085C>T (p.Leu4029=) c.2239C>T (p.Leu747=) c.3441C>T c.1260+526C>T c.3256C>T n.260C>T c.11959C>T (p.Leu3987=) n.5888C>T c.12088C>T (p.Leu4030=) | |
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.73601408T>A | CA347267043 | ALMS1 | c.11705T>A (p.Leu3902Gln) c.11167-777T>A (n.11167-777T>A) c.4791T>A c.8986T>A c.6152T>A (p.Leu2051Gln) c.9170T>A c.12086T>A (p.Leu4029Gln) c.2240T>A (p.Leu747Gln) c.3442T>A c.1260+527T>A c.3257T>A n.261T>A c.11960T>A (p.Leu3987Gln) n.5889T>A c.12089T>A (p.Leu4030Gln) | |
2 | g.73601408T>C | CA1715419 | ALMS1 | c.11705T>C (p.Leu3902Pro) c.11167-777T>C (n.11167-777T>C) c.4791T>C c.8986T>C c.6152T>C (p.Leu2051Pro) c.9170T>C c.12086T>C (p.Leu4029Pro) c.2240T>C (p.Leu747Pro) c.3442T>C c.1260+527T>C c.3257T>C n.261T>C c.11960T>C (p.Leu3987Pro) n.5889T>C c.12089T>C (p.Leu4030Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73601408T>G | CA347267050 | ALMS1 | c.11705T>G (p.Leu3902Arg) c.11167-777T>G (n.11167-777T>G) c.4791T>G c.8986T>G c.6152T>G (p.Leu2051Arg) c.9170T>G c.12086T>G (p.Leu4029Arg) c.2240T>G (p.Leu747Arg) c.3442T>G c.1260+527T>G c.3257T>G n.261T>G c.11960T>G (p.Leu3987Arg) n.5889T>G c.12089T>G (p.Leu4030Arg) | gnomAD v4 |
2 | g.73601408T= | CA1261034081 | ALMS1 | c.11705T= (p.Leu3902=) c.11167-777T= (n.11167-777T=) c.4791T= c.8986T= c.6152T= (p.Leu2051=) c.9170T= c.12086T= (p.Leu4029=) c.2240T= (p.Leu747=) c.3442T= c.1260+527T= c.3257T= n.261T= c.11960T= (p.Leu3987=) n.5889T= c.12089T= (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.73601409G>A | CA426783629 | ALMS1 | c.11706G>A (p.Leu3902=) c.11167-776G>A (n.11167-776G>A) c.4792G>A c.8987G>A c.6153G>A (p.Leu2051=) c.9171G>A c.12087G>A (p.Leu4029=) c.2241G>A (p.Leu747=) c.3443G>A c.1260+528G>A c.3258G>A n.262G>A c.11961G>A (p.Leu3987=) n.5890G>A c.12090G>A (p.Leu4030=) | ClinVar dbSNP |
2 | g.73601409G>C | CA426783631 | ALMS1 | c.11706G>C (p.Leu3902=) c.11167-776G>C (n.11167-776G>C) c.4792G>C c.8987G>C c.6153G>C (p.Leu2051=) c.9171G>C c.12087G>C (p.Leu4029=) c.2241G>C (p.Leu747=) c.3443G>C c.1260+528G>C c.3258G>C n.262G>C c.11961G>C (p.Leu3987=) n.5890G>C c.12090G>C (p.Leu4030=) | |
2 | g.73601409G>T | CA426783630 | ALMS1 | c.11706G>T (p.Leu3902=) c.11167-776G>T (n.11167-776G>T) c.4792G>T c.8987G>T c.6153G>T (p.Leu2051=) c.9171G>T c.12087G>T (p.Leu4029=) c.2241G>T (p.Leu747=) c.3443G>T c.1260+528G>T c.3258G>T n.262G>T c.11961G>T (p.Leu3987=) n.5890G>T c.12090G>T (p.Leu4030=) | |
2 | g.73601410A>C | CA426783632 | ALMS1 | c.11707A>C (p.Arg3903=) c.11167-775A>C (n.11167-775A>C) c.4793A>C c.8988A>C c.6154A>C (p.Arg2052=) c.9172A>C c.12088A>C (p.Arg4030=) c.2242A>C (p.Arg748=) c.3444A>C c.1260+529A>C c.3259A>C n.263A>C c.11962A>C (p.Arg3988=) n.5891A>C c.12091A>C (p.Arg4031=) | |
2 | g.73601410A>G | CA347267069 | ALMS1 | c.11707A>G (p.Arg3903Gly) c.11167-775A>G (n.11167-775A>G) c.4793A>G c.8988A>G c.6154A>G (p.Arg2052Gly) c.9172A>G c.12088A>G (p.Arg4030Gly) c.2242A>G (p.Arg748Gly) c.3444A>G c.1260+529A>G c.3259A>G n.263A>G c.11962A>G (p.Arg3988Gly) n.5891A>G c.12091A>G (p.Arg4031Gly) | |
2 | g.73601410A>T | CA347267056 | ALMS1 | c.11707A>T (p.Arg3903Trp) c.11167-775A>T (n.11167-775A>T) c.4793A>T c.8988A>T c.6154A>T (p.Arg2052Trp) c.9172A>T c.12088A>T (p.Arg4030Trp) c.2242A>T (p.Arg748Trp) c.3444A>T c.1260+529A>T c.3259A>T n.263A>T c.11962A>T (p.Arg3988Trp) n.5891A>T c.12091A>T (p.Arg4031Trp) | |
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) | ClinVar 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 |
2 | g.73601423G>C | CA347267184 | ALMS1 | c.11720G>C (p.Arg3907Thr) c.11167-762G>C (n.11167-762G>C) c.4806G>C c.9001G>C c.6167G>C (p.Arg2056Thr) c.9185G>C c.12101G>C (p.Arg4034Thr) c.2255G>C (p.Arg752Thr) c.3457G>C c.1260+542G>C c.3272G>C n.276G>C c.11975G>C (p.Arg3992Thr) n.5904G>C c.12104G>C (p.Arg4035Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73601423G= | CA1261034126 | ALMS1 | c.11720G= (p.Arg3907=) c.11167-762G= (n.11167-762G=) c.4806G= c.9001G= c.6167G= (p.Arg2056=) c.9185G= c.12101G= (p.Arg4034=) c.2255G= (p.Arg752=) c.3457G= c.1260+542G= c.3272G= n.276G= c.11975G= (p.Arg3992=) n.5904G= c.12104G= (p.Arg4035=) | |
2 | g.73601423G>T | CA347267190 | ALMS1 | c.11720G>T (p.Arg3907Ile) c.11167-762G>T (n.11167-762G>T) c.4806G>T c.9001G>T c.6167G>T (p.Arg2056Ile) c.9185G>T c.12101G>T (p.Arg4034Ile) c.2255G>T (p.Arg752Ile) c.3457G>T c.1260+542G>T c.3272G>T n.276G>T c.11975G>T (p.Arg3992Ile) n.5904G>T c.12104G>T (p.Arg4035Ile) | |
2 | g.73601424A>C | CA347267199 | ALMS1 | c.11721A>C (p.Arg3907Ser) c.11167-761A>C (n.11167-761A>C) c.4807A>C c.9002A>C c.6168A>C (p.Arg2056Ser) c.9186A>C c.12102A>C (p.Arg4034Ser) c.2256A>C (p.Arg752Ser) c.3458A>C c.1260+543A>C c.3273A>C n.277A>C c.11976A>C (p.Arg3992Ser) n.5905A>C c.12105A>C (p.Arg4035Ser) | |
2 | g.73601424A>G | CA426783788 | ALMS1 | c.11721A>G (p.Arg3907=) c.11167-761A>G (n.11167-761A>G) c.4807A>G c.9002A>G c.6168A>G (p.Arg2056=) c.9186A>G c.12102A>G (p.Arg4034=) c.2256A>G (p.Arg752=) c.3458A>G c.1260+543A>G c.3273A>G n.277A>G c.11976A>G (p.Arg3992=) n.5905A>G c.12105A>G (p.Arg4035=) | |
2 | g.73601424A>T | CA347267203 | ALMS1 | c.11721A>T (p.Arg3907Ser) c.11167-761A>T (n.11167-761A>T) c.4807A>T c.9002A>T c.6168A>T (p.Arg2056Ser) c.9186A>T c.12102A>T (p.Arg4034Ser) c.2256A>T (p.Arg752Ser) c.3458A>T c.1260+543A>T c.3273A>T n.277A>T c.11976A>T (p.Arg3992Ser) n.5905A>T c.12105A>T (p.Arg4035Ser) | |
2 | g.73601425_73601427del | CA913090881 | ALMS1 | c.11722_11724del (p.Ala3908del) c.11167-760_11167-758del (n.11167-760_11167-758del) c.4808_4810del c.9003_9005del c.6169_6171del (p.Ala2057del) c.9187_9189del c.12103_12105del (p.Ala4035del) c.2257_2259del (p.Ala753del) c.3459_3461del c.1260+544_1260+546del c.3274_3276del n.278_280del c.11977_11979del (p.Ala3993del) n.5906_5908del c.12106_12108del (p.Ala4036del) | |
2 | g.73601425G>A | CA1715425 | ALMS1 | c.11722G>A (p.Ala3908Thr) c.11167-760G>A (n.11167-760G>A) c.4808G>A c.9003G>A c.6169G>A (p.Ala2057Thr) c.9187G>A c.12103G>A (p.Ala4035Thr) c.2257G>A (p.Ala753Thr) c.3459G>A c.1260+544G>A c.3274G>A n.278G>A c.11977G>A (p.Ala3993Thr) n.5906G>A c.12106G>A (p.Ala4036Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73601425G>C | CA347267211 | ALMS1 | c.11722G>C (p.Ala3908Pro) c.11167-760G>C (n.11167-760G>C) c.4808G>C c.9003G>C c.6169G>C (p.Ala2057Pro) c.9187G>C c.12103G>C (p.Ala4035Pro) c.2257G>C (p.Ala753Pro) c.3459G>C c.1260+544G>C c.3274G>C n.278G>C c.11977G>C (p.Ala3993Pro) n.5906G>C c.12106G>C (p.Ala4036Pro) | |
2 | g.73601425G= | CA1261034132 | ALMS1 | c.11722G= (p.Ala3908=) c.11167-760G= (n.11167-760G=) c.4808G= c.9003G= c.6169G= (p.Ala2057=) c.9187G= c.12103G= (p.Ala4035=) c.2257G= (p.Ala753=) c.3459G= c.1260+544G= c.3274G= n.278G= c.11977G= (p.Ala3993=) n.5906G= c.12106G= (p.Ala4036=) | |
2 | g.73601425G>T | CA347267214 | ALMS1 | c.11722G>T (p.Ala3908Ser) c.11167-760G>T (n.11167-760G>T) c.4808G>T c.9003G>T c.6169G>T (p.Ala2057Ser) c.9187G>T c.12103G>T (p.Ala4035Ser) c.2257G>T (p.Ala753Ser) c.3459G>T c.1260+544G>T c.3274G>T n.278G>T c.11977G>T (p.Ala3993Ser) n.5906G>T c.12106G>T (p.Ala4036Ser) | |
2 | g.73601425_73601427delinsGCA | CA1261034134 | ALMS1 | c.11722_11724delinsGCA (p.Ala3908=) c.11167-760_11167-758delinsGCA (n.11167-760_11167-758delinsGCA) c.4808_4810delinsGCA c.9003_9005delinsGCA c.6169_6171delinsGCA (p.Ala2057=) c.9187_9189delinsGCA c.12103_12105delinsGCA (p.Ala4035=) c.2257_2259delinsGCA (p.Ala753=) c.3459_3461delinsGCA c.1260+544_1260+546delinsGCA c.3274_3276delinsGCA n.278_280delinsGCA c.11977_11979delinsGCA (p.Ala3993=) n.5906_5908delinsGCA c.12106_12108delinsGCA (p.Ala4036=) | |
2 | g.73601426C>A | CA347267227 | ALMS1 | c.11723C>A (p.Ala3908Glu) c.11167-759C>A (n.11167-759C>A) c.4809C>A c.9004C>A c.6170C>A (p.Ala2057Glu) c.9188C>A c.12104C>A (p.Ala4035Glu) c.2258C>A (p.Ala753Glu) c.3460C>A c.1260+545C>A c.3275C>A n.279C>A c.11978C>A (p.Ala3993Glu) n.5907C>A c.12107C>A (p.Ala4036Glu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73601426C= | CA1261034139 | ALMS1 | c.11723C= (p.Ala3908=) c.11167-759C= (n.11167-759C=) c.4809C= c.9004C= c.6170C= (p.Ala2057=) c.9188C= c.12104C= (p.Ala4035=) c.2258C= (p.Ala753=) c.3460C= c.1260+545C= c.3275C= n.279C= c.11978C= (p.Ala3993=) n.5907C= c.12107C= (p.Ala4036=) | |
2 | g.73601426C>G | CA347267231 | ALMS1 | c.11723C>G (p.Ala3908Gly) c.11167-759C>G (n.11167-759C>G) c.4809C>G c.9004C>G c.6170C>G (p.Ala2057Gly) c.9188C>G c.12104C>G (p.Ala4035Gly) c.2258C>G (p.Ala753Gly) c.3460C>G c.1260+545C>G c.3275C>G n.279C>G c.11978C>G (p.Ala3993Gly) n.5907C>G c.12107C>G (p.Ala4036Gly) | |
2 | g.73601426C>T | CA347267235 | ALMS1 | c.11723C>T (p.Ala3908Val) c.11167-759C>T (n.11167-759C>T) c.4809C>T c.9004C>T c.6170C>T (p.Ala2057Val) c.9188C>T c.12104C>T (p.Ala4035Val) c.2258C>T (p.Ala753Val) c.3460C>T c.1260+545C>T c.3275C>T n.279C>T c.11978C>T (p.Ala3993Val) n.5907C>T c.12107C>T (p.Ala4036Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.73601426_73601427del | CA658822846 | ALMS1 | c.11723_11724del (p.Ala3908AspfsTer12) c.11167-759_11167-758del (n.11167-759_11167-758del) c.4809_4810del c.9004_9005del c.6170_6171del (p.Ala2057AspfsTer12) c.9188_9189del c.12104_12105del (p.Ala4035AspfsTer12) c.2258_2259del (p.Ala753AspfsTer12) c.3460_3461del c.1260+545_1260+546del c.3275_3276del n.279_280del c.11978_11979del (p.Ala3993AspfsTer12) n.5907_5908del c.12107_12108del (p.Ala4036AspfsTer12) | ClinVar dbSNP gnomAD v4 |
2 | g.73601427A>C | CA426783798 | ALMS1 | c.11724A>C (p.Ala3908=) c.11167-758A>C (n.11167-758A>C) c.4810A>C c.9005A>C c.6171A>C (p.Ala2057=) c.9189A>C c.12105A>C (p.Ala4035=) c.2259A>C (p.Ala753=) c.3461A>C c.1260+546A>C c.3276A>C n.280A>C c.11979A>C (p.Ala3993=) n.5908A>C c.12108A>C (p.Ala4036=) | ClinVar dbSNP gnomAD v4 |
2 | g.73601427A>G | CA426783801 | ALMS1 | c.11724A>G (p.Ala3908=) c.11167-758A>G (n.11167-758A>G) c.4810A>G c.9005A>G c.6171A>G (p.Ala2057=) c.9189A>G c.12105A>G (p.Ala4035=) c.2259A>G (p.Ala753=) c.3461A>G c.1260+546A>G c.3276A>G n.280A>G c.11979A>G (p.Ala3993=) n.5908A>G c.12108A>G (p.Ala4036=) | |
2 | g.73601427A>T | CA426783803 | ALMS1 | c.11724A>T (p.Ala3908=) c.11167-758A>T (n.11167-758A>T) c.4810A>T c.9005A>T c.6171A>T (p.Ala2057=) c.9189A>T c.12105A>T (p.Ala4035=) c.2259A>T (p.Ala753=) c.3461A>T c.1260+546A>T c.3276A>T n.280A>T c.11979A>T (p.Ala3993=) n.5908A>T c.12108A>T (p.Ala4036=) | |
2 | g.73601428A= | CA1261034144 | ALMS1 | c.11725A= (p.Thr3909=) c.11167-757A= (n.11167-757A=) c.4811A= c.9006A= c.6172A= (p.Thr2058=) c.9190A= c.12106A= (p.Thr4036=) c.2260A= (p.Thr754=) c.3462A= c.1260+547A= c.3277A= n.281A= c.11980A= (p.Thr3994=) n.5909A= c.12109A= (p.Thr4037=) | |
2 | g.73601428A>C | CA347267236 | ALMS1 | c.11725A>C (p.Thr3909Pro) c.11167-757A>C (n.11167-757A>C) c.4811A>C c.9006A>C c.6172A>C (p.Thr2058Pro) c.9190A>C c.12106A>C (p.Thr4036Pro) c.2260A>C (p.Thr754Pro) c.3462A>C c.1260+547A>C c.3277A>C n.281A>C c.11980A>C (p.Thr3994Pro) n.5909A>C c.12109A>C (p.Thr4037Pro) | |
2 | g.73601428A>G | CA347267237 | ALMS1 | c.11725A>G (p.Thr3909Ala) c.11167-757A>G (n.11167-757A>G) c.4811A>G c.9006A>G c.6172A>G (p.Thr2058Ala) c.9190A>G c.12106A>G (p.Thr4036Ala) c.2260A>G (p.Thr754Ala) c.3462A>G c.1260+547A>G c.3277A>G n.281A>G c.11980A>G (p.Thr3994Ala) n.5909A>G c.12109A>G (p.Thr4037Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73601428A>T | CA347267240 | ALMS1 | c.11725A>T (p.Thr3909Ser) c.11167-757A>T (n.11167-757A>T) c.4811A>T c.9006A>T c.6172A>T (p.Thr2058Ser) c.9190A>T c.12106A>T (p.Thr4036Ser) c.2260A>T (p.Thr754Ser) c.3462A>T c.1260+547A>T c.3277A>T n.281A>T c.11980A>T (p.Thr3994Ser) n.5909A>T c.12109A>T (p.Thr4037Ser) | |
2 | g.73601429C>A | CA347267244 | ALMS1 | c.11726C>A (p.Thr3909Asn) c.11167-756C>A (n.11167-756C>A) c.4812C>A c.9007C>A c.6173C>A (p.Thr2058Asn) c.9191C>A c.12107C>A (p.Thr4036Asn) c.2261C>A (p.Thr754Asn) c.3463C>A c.1260+548C>A c.3278C>A n.282C>A c.11981C>A (p.Thr3994Asn) n.5910C>A c.12110C>A (p.Thr4037Asn) | |
2 | g.73601429C= | CA1261034149 | ALMS1 | c.11726C= (p.Thr3909=) c.11167-756C= (n.11167-756C=) c.4812C= c.9007C= c.6173C= (p.Thr2058=) c.9191C= c.12107C= (p.Thr4036=) c.2261C= (p.Thr754=) c.3463C= c.1260+548C= c.3278C= n.282C= c.11981C= (p.Thr3994=) n.5910C= c.12110C= (p.Thr4037=) | |
2 | g.73601429C>G | CA347267248 | ALMS1 | c.11726C>G (p.Thr3909Ser) c.11167-756C>G (n.11167-756C>G) c.4812C>G c.9007C>G c.6173C>G (p.Thr2058Ser) c.9191C>G c.12107C>G (p.Thr4036Ser) c.2261C>G (p.Thr754Ser) c.3463C>G c.1260+548C>G c.3278C>G n.282C>G c.11981C>G (p.Thr3994Ser) n.5910C>G c.12110C>G (p.Thr4037Ser) | dbSNP |
2 | g.73601429C>T | CA50337441 | ALMS1 | c.11726C>T (p.Thr3909Ile) c.11167-756C>T (n.11167-756C>T) c.4812C>T c.9007C>T c.6173C>T (p.Thr2058Ile) c.9191C>T c.12107C>T (p.Thr4036Ile) c.2261C>T (p.Thr754Ile) c.3463C>T c.1260+548C>T c.3278C>T n.282C>T c.11981C>T (p.Thr3994Ile) n.5910C>T c.12110C>T (p.Thr4037Ile) | dbSNP |