Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.73601344G>ACA347266505ALMS1c.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
2g.73601344G>CCA347266510ALMS1c.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
2g.73601344G=CA1261033915ALMS1c.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=)
2g.73601344G>TCA347266502ALMS1c.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)
2g.73601345G>ACA347266519ALMS1c.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)
2g.73601345G>CCA347266515ALMS1c.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
2g.73601345G>TCA347266518ALMS1c.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)
2g.73601346G>ACA1715404ALMS1c.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
2g.73601346G>CCA426783580ALMS1c.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=)
2g.73601346G=CA1261033917ALMS1c.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=)
2g.73601346G>TCA426783579ALMS1c.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=)
2g.73601347C>ACA347266529ALMS1c.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)
2g.73601347C>GCA347266532ALMS1c.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)
2g.73601347C>TCA347266535ALMS1c.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
2g.73601348A>CCA347266545ALMS1c.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
2g.73601348A>GCA347266539ALMS1c.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)
2g.73601348A>TCA347266542ALMS1c.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)
2g.73601349G>ACA426783581ALMS1c.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
2g.73601349G>CCA347266549ALMS1c.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)
2g.73601349G=CA1261033919ALMS1c.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=)
2g.73601349G>TCA347266552ALMS1c.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)
2g.73601350C>ACA347266555ALMS1c.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)
2g.73601350C>GCA347266559ALMS1c.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
2g.73601350C>TCA347266561ALMS1c.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
2g.73601351A>CCA347266568ALMS1c.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)
2g.73601351A>GCA347266574ALMS1c.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)
2g.73601351A>TCA347266570ALMS1c.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)
2g.73601352C>ACA347266579ALMS1c.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)
2g.73601352C>GCA347266581ALMS1c.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
2g.73601352C>TCA426783582ALMS1c.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
2g.73601353delCA2586969572ALMS1c.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)
2g.73601353C>ACA347266586ALMS1c.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)
2g.73601353C=CA1261033922ALMS1c.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=)
2g.73601353C>GCA347266589ALMS1c.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)
2g.73601353C>TCA426783583ALMS1c.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
2g.73601354T>ACA347266593ALMS1c.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)
2g.73601354T>CCA347266595ALMS1c.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
2g.73601354T>GCA347266598ALMS1c.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)
2g.73601355G>ACA426783584ALMS1c.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=)
2g.73601355G>CCA426783585ALMS1c.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=)
2g.73601355G>TCA426783586ALMS1c.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=)
2g.73601356G>ACA347266603ALMS1c.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)
2g.73601356G>CCA347266607ALMS1c.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)
2g.73601356G>TCA347266611ALMS1c.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)
2g.73601357A>CCA347266621ALMS1c.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)
2g.73601357A>GCA347266617ALMS1c.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)
2g.73601357A>TCA347266614ALMS1c.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)
2g.73601358C>ACA1715406ALMS1c.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
2g.73601358C=CA1261033931ALMS1c.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=)
2g.73601358C>GCA347266637ALMS1c.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
2g.73601358C>TCA1715405ALMS1c.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
2g.73601359G>ACA1715407ALMS1c.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
2g.73601359G>CCA347266649ALMS1c.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)
2g.73601359G=CA1261033936ALMS1c.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=)
2g.73601359G>TCA347266654ALMS1c.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)
2g.73601360G>ACA1715408ALMS1c.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
2g.73601360G>CCA347266658ALMS1c.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)
2g.73601360G=CA1261033941ALMS1c.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=)
2g.73601360G>TCA347266659ALMS1c.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)
2g.73601361delCA2577005281ALMS1c.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)
2g.73601361T>ACA426783589ALMS1c.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=)
2g.73601361T>CCA426783587ALMS1c.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=)
2g.73601361T>GCA426783588ALMS1c.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
2g.73601361T=CA1261033945ALMS1c.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=)
2g.73601362C>ACA426783590ALMS1c.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
2g.73601362C=CA1261033949ALMS1c.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=)
2g.73601362C>GCA347266661ALMS1c.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)
2g.73601362C>TCA1715409ALMS1c.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
2g.73601362_73601363delCA2580068177ALMS1c.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
2g.73601362_73601363delinsCGCA1261033948ALMS1c.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=)
2g.73601363G>ACA1715410ALMS1c.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
2g.73601363G>CCA347266674ALMS1c.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
2g.73601363G=CA1261033954ALMS1c.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=)
2g.73601363G>TCA347266677ALMS1c.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)
2g.73601366delCA1139657124ALMS1c.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
2g.73601364G>ACA426783591ALMS1c.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
2g.73601364G>CCA426783592ALMS1c.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
2g.73601364G=CA1261033966ALMS1c.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=)
2g.73601364G>TCA426783593ALMS1c.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=)
2g.73601365G>ACA347266681ALMS1c.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
2g.73601365G>CCA347266688ALMS1c.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)
2g.73601365G>TCA347266684ALMS1c.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)
2g.73601366G>ACA1715411ALMS1c.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
2g.73601366G>CCA347266695ALMS1c.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)
2g.73601366G=CA1261033974ALMS1c.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=)
2g.73601366G>TCA347266698ALMS1c.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
2g.73601367C>ACA426783596ALMS1c.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
2g.73601367C=CA1261033979ALMS1c.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=)
2g.73601367C>GCA426783594ALMS1c.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=)
2g.73601367C>TCA426783595ALMS1c.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
2g.73601368T>ACA347266702ALMS1c.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)
2g.73601368T>CCA347266706ALMS1c.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)
2g.73601368T>GCA347266709ALMS1c.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)
2g.73601369A=CA1261033982ALMS1c.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=)
2g.73601369A>CCA50337391ALMS1c.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
2g.73601369A>GCA1715412ALMS1c.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
2g.73601369A>TCA347266722ALMS1c.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)
2g.73601370C>ACA347266736ALMS1c.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)
2g.73601370C>GCA347266738ALMS1c.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)
2g.73601370C>TCA426783597ALMS1c.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
2g.73601371dupCA1715413ALMS1c.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
2g.73601371C>ACA347266745ALMS1c.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)
2g.73601371C=CA1261033989ALMS1c.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=)
2g.73601371C>GCA347266742ALMS1c.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
2g.73601371C>TCA426783598ALMS1c.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=)
2g.73601372T>ACA347266751ALMS1c.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)
2g.73601372T>CCA347266757ALMS1c.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
2g.73601372T>GCA347266753ALMS1c.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)
2g.73601372T=CA1261033992ALMS1c.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=)
2g.73601373G>ACA426783599ALMS1c.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
2g.73601373G>CCA426783600ALMS1c.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
2g.73601373G=CA1261033994ALMS1c.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=)
2g.73601373G>TCA426783601ALMS1c.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
2g.73601374G>ACA347266762ALMS1c.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)
2g.73601374G>CCA347266767ALMS1c.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)
2g.73601374G>TCA347266764ALMS1c.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)
2g.73601375C>ACA347266770ALMS1c.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)
2g.73601375C>GCA347266773ALMS1c.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)
2g.73601375C>TCA347266778ALMS1c.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)
2g.73601376A=CA1261033996ALMS1c.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=)
2g.73601376A>CCA426783603ALMS1c.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
2g.73601376A>GCA50337399ALMS1c.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
2g.73601376A>TCA426783602ALMS1c.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=)
2g.73601377G>ACA347266788ALMS1c.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
2g.73601377G>CCA347266789ALMS1c.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
2g.73601377G>TCA347266792ALMS1c.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)
2g.73601378G>ACA347266805ALMS1c.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)
2g.73601378G>CCA347266808ALMS1c.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)
2g.73601378G>TCA347266813ALMS1c.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)
2g.73601379C>ACA426783606ALMS1c.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=)
2g.73601379C=CA1261033999ALMS1c.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=)
2g.73601379C>GCA426783604ALMS1c.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=)
2g.73601379C>TCA426783605ALMS1c.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
2g.73601381delCA2573135820ALMS1c.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
2g.73601380C>ACA347266818ALMS1c.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
2g.73601380C>GCA347266820ALMS1c.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
2g.73601380C>TCA347266823ALMS1c.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)
2g.73601381C>ACA347266834ALMS1c.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)
2g.73601381C>GCA347266827ALMS1c.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
2g.73601381C>TCA347266831ALMS1c.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)
2g.73601382A>CCA426783607ALMS1c.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=)
2g.73601382A>GCA426783609ALMS1c.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=)
2g.73601382A>TCA426783608ALMS1c.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=)
2g.73601383G>ACA347266838ALMS1c.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)
2g.73601383G>CCA347266841ALMS1c.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)
2g.73601383G>TCA347266843ALMS1c.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
2g.73601384G>ACA1715414ALMS1c.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
2g.73601384G>CCA347266851ALMS1c.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)
2g.73601384G=CA1261034003ALMS1c.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=)
2g.73601384G>TCA347266854ALMS1c.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
2g.73601385C>ACA426783610ALMS1c.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
2g.73601385C=CA1261034009ALMS1c.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=)
2g.73601385C>GCA426783611ALMS1c.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
2g.73601385C>TCA1715415ALMS1c.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
2g.73601386A>CCA426783612ALMS1c.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=)
2g.73601386A>GCA347266860ALMS1c.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
2g.73601386A>TCA347266862ALMS1c.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)
2g.73601387G>ACA347266864ALMS1c.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)
2g.73601387G>CCA347266870ALMS1c.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)
2g.73601387G>TCA347266873ALMS1c.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)
2g.73601388A>CCA347266878ALMS1c.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)
2g.73601388A>GCA426783613ALMS1c.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=)
2g.73601388A>TCA347266881ALMS1c.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)
2g.73601389G>ACA347266885ALMS1c.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
2g.73601389G>CCA347266888ALMS1c.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)
2g.73601389G=CA1261034012ALMS1c.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=)
2g.73601389G>TCA347266892ALMS1c.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)
2g.73601390A=CA1261034016ALMS1c.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=)
2g.73601390A>CCA347266898ALMS1c.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)
2g.73601390A>GCA1715416ALMS1c.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
2g.73601390A>TCA347266904ALMS1c.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)
2g.73601391G>ACA426783614ALMS1c.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=)
2g.73601391G>CCA347266911ALMS1c.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
2g.73601391G>TCA347266908ALMS1c.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)
2g.73601392G>ACA347266917ALMS1c.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)
2g.73601392G>CCA347266919ALMS1c.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)
2g.73601392G=CA1261034021ALMS1c.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=)
2g.73601392G>TCA347266923ALMS1c.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
2g.73601393C>ACA347266928ALMS1c.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
2g.73601393C=CA1261034024ALMS1c.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=)
2g.73601393C>GCA347266929ALMS1c.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
2g.73601393C>TCA50337416ALMS1c.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
2g.73601394T>ACA426783615ALMS1c.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=)
2g.73601394T>CCA426783617ALMS1c.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=)
2g.73601394T>GCA426783616ALMS1c.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=)
2g.73601395G>ACA347266936ALMS1c.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
2g.73601395G>CCA347266942ALMS1c.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)
2g.73601395G>TCA347266940ALMS1c.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)
2g.73601396G>ACA1715417ALMS1c.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
2g.73601396G>CCA347266951ALMS1c.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
2g.73601396G=CA1261034035ALMS1c.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=)
2g.73601396G>TCA347266953ALMS1c.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)
2g.73601396_73601397delCA913090878ALMS1c.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)
2g.73601396_73601397delinsGCCA1261034032ALMS1c.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=)
2g.73601397delCA658822844ALMS1c.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
2g.73601397C>ACA426783618ALMS1c.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=)
2g.73601397C=CA1261034038ALMS1c.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=)
2g.73601397C>GCA426783619ALMS1c.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
2g.73601397C>TCA426783620ALMS1c.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=)
2g.73601398A=CA1261034045ALMS1c.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=)
2g.73601398A>CCA426783621ALMS1c.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=)
2g.73601398A>GCA1715418ALMS1c.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
2g.73601398A>TCA347266960ALMS1c.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)
2g.73601399G>ACA347266964ALMS1c.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)
2g.73601399G>CCA347266968ALMS1c.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)
2g.73601399G>TCA347266971ALMS1c.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)
2g.73601400A>CCA347266978ALMS1c.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)
2g.73601400A>GCA426783622ALMS1c.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=)
2g.73601400A>TCA347266981ALMS1c.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)
2g.73601401G>ACA347266992ALMS1c.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)
2g.73601401G>CCA347266989ALMS1c.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
2g.73601401G=CA1261034051ALMS1c.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=)
2g.73601401G>TCA347266986ALMS1c.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)
2g.73601402A=CA1261034053ALMS1c.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=)
2g.73601402A>CCA347266996ALMS1c.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)
2g.73601402A>GCA347267003ALMS1c.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
2g.73601402A>TCA347266997ALMS1c.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)
2g.73601403C>ACA347267008ALMS1c.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)
2g.73601403C=CA1261034057ALMS1c.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=)
2g.73601403C>GCA347267011ALMS1c.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)
2g.73601403C>TCA426783623ALMS1c.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
2g.73601404C>ACA347267015ALMS1c.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)
2g.73601404C>GCA347267020ALMS1c.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)
2g.73601404C>TCA426783624ALMS1c.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=)
2g.73601404_73601408delCA913090879ALMS1c.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)
2g.73601404_73601408delinsCTACTCA1261034060ALMS1c.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=)
2g.73601405T>ACA347267024ALMS1c.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)
2g.73601405T>CCA347267027ALMS1c.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)
2g.73601405T>GCA347267031ALMS1c.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)
2g.73601405_73601408delCA658822845ALMS1c.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
2g.73601406A=CA1261034067ALMS1c.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=)
2g.73601406A>CCA426783625ALMS1c.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
2g.73601406A>GCA426783626ALMS1c.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
2g.73601406A>TCA426783627ALMS1c.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=)
2g.73601407C>ACA347267035ALMS1c.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)
2g.73601407C>GCA347267038ALMS1c.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)
2g.73601407C>TCA426783628ALMS1c.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=)
2g.73601407_73601419delCA913090880ALMS1c.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)
2g.73601407_73601419delinsCTGAGGCCATTTGCA1261034070ALMS1c.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=)
2g.73601408T>ACA347267043ALMS1c.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)
2g.73601408T>CCA1715419ALMS1c.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
2g.73601408T>GCA347267050ALMS1c.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
2g.73601408T=CA1261034081ALMS1c.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=)
2g.73601412_73601423delCA534125800ALMS1c.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
2g.73601409G>ACA426783629ALMS1c.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
2g.73601409G>CCA426783631ALMS1c.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=)
2g.73601409G>TCA426783630ALMS1c.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=)
2g.73601410A>CCA426783632ALMS1c.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=)
2g.73601410A>GCA347267069ALMS1c.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)
2g.73601410A>TCA347267056ALMS1c.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)
2g.73601411G>ACA1715420ALMS1c.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
2g.73601411G>CCA347267078ALMS1c.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
2g.73601411G=CA1261034094ALMS1c.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=)
2g.73601411G>TCA347267081ALMS1c.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)
2g.73601411_73601412delinsAACA2697548299ALMS1c.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
2g.73601412G>ACA426783736ALMS1c.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=)
2g.73601412G>CCA347267087ALMS1c.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)
2g.73601412G>TCA347267090ALMS1c.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)
2g.73601413_73601419dupCA2659621094ALMS1c.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
2g.73601413C>ACA347267094ALMS1c.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)
2g.73601413C=CA1261034099ALMS1c.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=)
2g.73601413C>GCA347267099ALMS1c.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
2g.73601413C>TCA347267104ALMS1c.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)
2g.73601414C>ACA1715421ALMS1c.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
2g.73601414C=CA1261034103ALMS1c.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=)
2g.73601414C>GCA347267111ALMS1c.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)
2g.73601414C>TCA347267114ALMS1c.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
2g.73601415A=CA1261034112ALMS1c.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=)
2g.73601415A>CCA426783749ALMS1c.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=)
2g.73601415A>GCA1715422ALMS1c.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
2g.73601415A>TCA426783751ALMS1c.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=)
2g.73601416T>ACA347267128ALMS1c.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)
2g.73601416T>CCA347267124ALMS1c.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)
2g.73601416T>GCA347267122ALMS1c.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)
2g.73601417T>ACA347267132ALMS1c.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)
2g.73601417T>CCA347267136ALMS1c.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)
2g.73601417T>GCA347267140ALMS1c.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)
2g.73601418T>ACA347267144ALMS1c.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)
2g.73601418T>CCA426783765ALMS1c.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=)
2g.73601418T>GCA347267147ALMS1c.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)
2g.73601419G>ACA347267152ALMS1c.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
2g.73601419G>CCA347267155ALMS1c.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)
2g.73601419G=CA1261034116ALMS1c.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=)
2g.73601419G>TCA347267158ALMS1c.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)
2g.73601420T>ACA347267161ALMS1c.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)
2g.73601420T>CCA347267164ALMS1c.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)
2g.73601420T>GCA347267167ALMS1c.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)
2g.73601421G>ACA426783774ALMS1c.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=)
2g.73601421G>CCA426783775ALMS1c.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=)
2g.73601421G>TCA426783777ALMS1c.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=)
2g.73601422A=CA1261034120ALMS1c.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=)
2g.73601422A>CCA426783778ALMS1c.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=)
2g.73601422A>GCA1715423ALMS1c.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
2g.73601422A>TCA347267175ALMS1c.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)
2g.73601422_73601423delinsAGCA1261034119ALMS1c.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=)
2g.73601423delCA50337440ALMS1c.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
2g.73601423G>ACA1715424ALMS1c.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
2g.73601423G>CCA347267184ALMS1c.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
2g.73601423G=CA1261034126ALMS1c.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=)
2g.73601423G>TCA347267190ALMS1c.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)
2g.73601424A>CCA347267199ALMS1c.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)
2g.73601424A>GCA426783788ALMS1c.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=)
2g.73601424A>TCA347267203ALMS1c.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)
2g.73601425_73601427delCA913090881ALMS1c.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)
2g.73601425G>ACA1715425ALMS1c.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
2g.73601425G>CCA347267211ALMS1c.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)
2g.73601425G=CA1261034132ALMS1c.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=)
2g.73601425G>TCA347267214ALMS1c.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)
2g.73601425_73601427delinsGCACA1261034134ALMS1c.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=)
2g.73601426C>ACA347267227ALMS1c.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
2g.73601426C=CA1261034139ALMS1c.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=)
2g.73601426C>GCA347267231ALMS1c.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)
2g.73601426C>TCA347267235ALMS1c.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
2g.73601426_73601427delCA658822846ALMS1c.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
2g.73601427A>CCA426783798ALMS1c.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
2g.73601427A>GCA426783801ALMS1c.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=)
2g.73601427A>TCA426783803ALMS1c.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=)
2g.73601428A=CA1261034144ALMS1c.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=)
2g.73601428A>CCA347267236ALMS1c.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)
2g.73601428A>GCA347267237ALMS1c.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
2g.73601428A>TCA347267240ALMS1c.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)
2g.73601429C>ACA347267244ALMS1c.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)
2g.73601429C=CA1261034149ALMS1c.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=)
2g.73601429C>GCA347267248ALMS1c.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
2g.73601429C>TCA50337441ALMS1c.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
2g.73601430C>ACA426783812ALMS1c.11727C>A (p.Thr3909=)
c.11167-755C>A (n.11167-755C>A)
c.4813C>A
c.9008C>A
c.6174C>A (p.Thr2058=)
c.9192C>A
c.12108C>A (p.Thr4036=)
c.2262C>A (p.Thr754=)
c.3464C>A
c.1260+549C>A
c.3279C>A
n.283C>A
c.11982C>A (p.Thr3994=)
n.5911C>A
c.12111C>A (p.Thr4037=)
2g.73601430C=CA1261034154ALMS1c.11727C= (p.Thr3909=)
c.11167-755C= (n.11167-755C=)
c.4813C=
c.9008C=
c.6174C= (p.Thr2058=)
c.9192C=
c.12108C= (p.Thr4036=)
c.2262C= (p.Thr754=)
c.3464C=
c.1260+549C=
c.3279C=
n.283C=
c.11982C= (p.Thr3994=)
n.5911C=
c.12111C= (p.Thr4037=)
2g.73601430C>GCA1715426ALMS1c.11727C>G (p.Thr3909=)
c.11167-755C>G (n.11167-755C>G)
c.4813C>G
c.9008C>G
c.6174C>G (p.Thr2058=)
c.9192C>G
c.12108C>G (p.Thr4036=)
c.2262C>G (p.Thr754=)
c.3464C>G
c.1260+549C>G
c.3279C>G
n.283C>G
c.11982C>G (p.Thr3994=)
n.5911C>G
c.12111C>G (p.Thr4037=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73601430C>TCA1715427ALMS1c.11727C>T (p.Thr3909=)
c.11167-755C>T (n.11167-755C>T)
c.4813C>T
c.9008C>T
c.6174C>T (p.Thr2058=)
c.9192C>T
c.12108C>T (p.Thr4036=)
c.2262C>T (p.Thr754=)
c.3464C>T
c.1260+549C>T
c.3279C>T
n.283C>T
c.11982C>T (p.Thr3994=)
n.5911C>T
c.12111C>T (p.Thr4037=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73601431C>ACA347267270ALMS1c.11728C>A (p.Leu3910Ile)
c.11167-754C>A (n.11167-754C>A)
c.4814C>A
c.9009C>A
c.6175C>A (p.Leu2059Ile)
c.9193C>A
c.12109C>A (p.Leu4037Ile)
c.2263C>A (p.Leu755Ile)
c.3465C>A
c.1260+550C>A
c.3280C>A
n.284C>A
c.11983C>A (p.Leu3995Ile)
n.5912C>A
c.12112C>A (p.Leu4038Ile)
2g.73601431C=CA1261034162ALMS1c.11728C= (p.Leu3910=)
c.11167-754C= (n.11167-754C=)
c.4814C=
c.9009C=
c.6175C= (p.Leu2059=)
c.9193C=
c.12109C= (p.Leu4037=)
c.2263C= (p.Leu755=)
c.3465C=
c.1260+550C=
c.3280C=
n.284C=
c.11983C= (p.Leu3995=)
n.5912C=
c.12112C= (p.Leu4038=)
2g.73601431C>GCA347267275ALMS1c.11728C>G (p.Leu3910Val)
c.11167-754C>G (n.11167-754C>G)
c.4814C>G
c.9009C>G
c.6175C>G (p.Leu2059Val)
c.9193C>G
c.12109C>G (p.Leu4037Val)
c.2263C>G (p.Leu755Val)
c.3465C>G
c.1260+550C>G
c.3280C>G
n.284C>G
c.11983C>G (p.Leu3995Val)
n.5912C>G
c.12112C>G (p.Leu4038Val)
 ClinVar dbSNP
2g.73601431C>TCA347267274ALMS1c.11728C>T (p.Leu3910Phe)
c.11167-754C>T (n.11167-754C>T)
c.4814C>T
c.9009C>T
c.6175C>T (p.Leu2059Phe)
c.9193C>T
c.12109C>T (p.Leu4037Phe)
c.2263C>T (p.Leu755Phe)
c.3465C>T
c.1260+550C>T
c.3280C>T
n.284C>T
c.11983C>T (p.Leu3995Phe)
n.5912C>T
c.12112C>T (p.Leu4038Phe)
 gnomAD v4
2g.73601432T>ACA347267281ALMS1c.11729T>A (p.Leu3910His)
c.11167-753T>A (n.11167-753T>A)
c.4815T>A
c.9010T>A
c.6176T>A (p.Leu2059His)
c.9194T>A
c.12110T>A (p.Leu4037His)
c.2264T>A (p.Leu755His)
c.3466T>A
c.1260+551T>A
c.3281T>A
n.285T>A
c.11984T>A (p.Leu3995His)
n.5913T>A
c.12113T>A (p.Leu4038His)
2g.73601432T>CCA347267285ALMS1c.11729T>C (p.Leu3910Pro)
c.11167-753T>C (n.11167-753T>C)
c.4815T>C
c.9010T>C
c.6176T>C (p.Leu2059Pro)
c.9194T>C
c.12110T>C (p.Leu4037Pro)
c.2264T>C (p.Leu755Pro)
c.3466T>C
c.1260+551T>C
c.3281T>C
n.285T>C
c.11984T>C (p.Leu3995Pro)
n.5913T>C
c.12113T>C (p.Leu4038Pro)
2g.73601432T>GCA347267282ALMS1c.11729T>G (p.Leu3910Arg)
c.11167-753T>G (n.11167-753T>G)
c.4815T>G
c.9010T>G
c.6176T>G (p.Leu2059Arg)
c.9194T>G
c.12110T>G (p.Leu4037Arg)
c.2264T>G (p.Leu755Arg)
c.3466T>G
c.1260+551T>G
c.3281T>G
n.285T>G
c.11984T>G (p.Leu3995Arg)
n.5913T>G
c.12113T>G (p.Leu4038Arg)
2g.73601433dupCA1261034165ALMS1c.11730dup (p.Gln3911SerfsTer10)
c.11167-752dup (n.11167-752dup)
c.4816dup
c.9011dup
c.6177dup (p.Gln2060SerfsTer10)
c.9195dup
c.12111dup (p.Gln4038SerfsTer10)
c.2265dup (p.Gln756SerfsTer10)
c.3467dup
c.1260+552dup
c.3282dup
n.286dup
c.11985dup (p.Gln3996SerfsTer10)
n.5914dup
c.12114dup (p.Gln4039SerfsTer10)
 ClinVar dbSNP gnomAD v4
2g.73601433T>ACA426783825ALMS1c.11730T>A (p.Leu3910=)
c.11167-752T>A (n.11167-752T>A)
c.4816T>A
c.9011T>A
c.6177T>A (p.Leu2059=)
c.9195T>A
c.12111T>A (p.Leu4037=)
c.2265T>A (p.Leu755=)
c.3467T>A
c.1260+552T>A
c.3282T>A
n.286T>A
c.11985T>A (p.Leu3995=)
n.5914T>A
c.12114T>A (p.Leu4038=)
2g.73601433T>CCA426783826ALMS1c.11730T>C (p.Leu3910=)
c.11167-752T>C (n.11167-752T>C)
c.4816T>C
c.9011T>C
c.6177T>C (p.Leu2059=)
c.9195T>C
c.12111T>C (p.Leu4037=)
c.2265T>C (p.Leu755=)
c.3467T>C
c.1260+552T>C
c.3282T>C
n.286T>C
c.11985T>C (p.Leu3995=)
n.5914T>C
c.12114T>C (p.Leu4038=)
2g.73601433T>GCA426783831ALMS1c.11730T>G (p.Leu3910=)
c.11167-752T>G (n.11167-752T>G)
c.4816T>G
c.9011T>G
c.6177T>G (p.Leu2059=)
c.9195T>G
c.12111T>G (p.Leu4037=)
c.2265T>G (p.Leu755=)
c.3467T>G
c.1260+552T>G
c.3282T>G
n.286T>G
c.11985T>G (p.Leu3995=)
n.5914T>G
c.12114T>G (p.Leu4038=)
 ClinVar
2g.73601434delCA2750469792ALMS1c.11731del (p.Gln3911ArgfsTer19)
c.11167-751del (n.11167-751del)
c.4817del
c.9012del
c.6178del (p.Gln2060ArgfsTer19)
c.9196del
c.12112del (p.Gln4038ArgfsTer19)
c.2266del (p.Gln756ArgfsTer19)
c.3468del
c.1260+553del
c.3283del
n.287del
c.11986del (p.Gln3996ArgfsTer19)
n.5915del
c.12115del (p.Gln4039ArgfsTer19)
2g.73601434C>ACA347267286ALMS1c.11731C>A (p.Gln3911Lys)
c.11167-751C>A (n.11167-751C>A)
c.4817C>A
c.9012C>A
c.6178C>A (p.Gln2060Lys)
c.9196C>A
c.12112C>A (p.Gln4038Lys)
c.2266C>A (p.Gln756Lys)
c.3468C>A
c.1260+553C>A
c.3283C>A
n.287C>A
c.11986C>A (p.Gln3996Lys)
n.5915C>A
c.12115C>A (p.Gln4039Lys)
2g.73601434C=CA1261034168ALMS1c.11731C= (p.Gln3911=)
c.11167-751C= (n.11167-751C=)
c.4817C=
c.9012C=
c.6178C= (p.Gln2060=)
c.9196C=
c.12112C= (p.Gln4038=)
c.2266C= (p.Gln756=)
c.3468C=
c.1260+553C=
c.3283C=
n.287C=
c.11986C= (p.Gln3996=)
n.5915C=
c.12115C= (p.Gln4039=)
2g.73601434C>GCA347267291ALMS1c.11731C>G (p.Gln3911Glu)
c.11167-751C>G (n.11167-751C>G)
c.4817C>G
c.9012C>G
c.6178C>G (p.Gln2060Glu)
c.9196C>G
c.12112C>G (p.Gln4038Glu)
c.2266C>G (p.Gln756Glu)
c.3468C>G
c.1260+553C>G
c.3283C>G
n.287C>G
c.11986C>G (p.Gln3996Glu)
n.5915C>G
c.12115C>G (p.Gln4039Glu)
 gnomAD v4
2g.73601434C>TCA1715428ALMS1c.11731C>T (p.Gln3911Ter)
c.11167-751C>T (n.11167-751C>T)
c.4817C>T
c.9012C>T
c.6178C>T (p.Gln2060Ter)
c.9196C>T
c.12112C>T (p.Gln4038Ter)
c.2266C>T (p.Gln756Ter)
c.3468C>T
c.1260+553C>T
c.3283C>T
n.287C>T
c.11986C>T (p.Gln3996Ter)
n.5915C>T
c.12115C>T (p.Gln4039Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73601434_73601450delCA2750469793ALMS1c.11731_11733+14del
c.11167-751_11167-735del (n.11167-751_11167-735del)
c.4817_4819+14del
c.9012_9014+14del
c.6178_6180+14del
c.9196_9198+14del
c.12112_12114+14del
c.2266_2268+14del
c.3468_3470+14del
c.1260+553_1260+569del
c.3283_3285+14del
n.287_289+14del
c.11986_11988+14del
n.5915_5917+14del
c.12115_12117+14del
2g.73601435A=CA1261034173ALMS1c.11732A= (p.Gln3911=)
c.11167-750A= (n.11167-750A=)
c.4818A=
c.9013A=
c.6179A= (p.Gln2060=)
c.9197A=
c.12113A= (p.Gln4038=)
c.2267A= (p.Gln756=)
c.3469A=
c.1260+554A=
c.3284A=
n.288A=
c.11987A= (p.Gln3996=)
n.5916A=
c.12116A= (p.Gln4039=)
2g.73601435A>CCA347267292ALMS1c.11732A>C (p.Gln3911Pro)
c.11167-750A>C (n.11167-750A>C)
c.4818A>C
c.9013A>C
c.6179A>C (p.Gln2060Pro)
c.9197A>C
c.12113A>C (p.Gln4038Pro)
c.2267A>C (p.Gln756Pro)
c.3469A>C
c.1260+554A>C
c.3284A>C
n.288A>C
c.11987A>C (p.Gln3996Pro)
n.5916A>C
c.12116A>C (p.Gln4039Pro)
2g.73601435A>GCA16604395ALMS1c.11732A>G (p.Gln3911Arg)
c.11167-750A>G (n.11167-750A>G)
c.4818A>G
c.9013A>G
c.6179A>G (p.Gln2060Arg)
c.9197A>G
c.12113A>G (p.Gln4038Arg)
c.2267A>G (p.Gln756Arg)
c.3469A>G
c.1260+554A>G
c.3284A>G
n.288A>G
c.11987A>G (p.Gln3996Arg)
n.5916A>G
c.12116A>G (p.Gln4039Arg)
 ClinVar dbSNP gnomAD v4
2g.73601435A>TCA347267293ALMS1c.11732A>T (p.Gln3911Leu)
c.11167-750A>T (n.11167-750A>T)
c.4818A>T
c.9013A>T
c.6179A>T (p.Gln2060Leu)
c.9197A>T
c.12113A>T (p.Gln4038Leu)
c.2267A>T (p.Gln756Leu)
c.3469A>T
c.1260+554A>T
c.3284A>T
n.288A>T
c.11987A>T (p.Gln3996Leu)
n.5916A>T
c.12116A>T (p.Gln4039Leu)
2g.73601436G>ACA426783841ALMS1c.11733G>A (p.Gln3911=)
c.11167-749G>A (n.11167-749G>A)
c.4819G>A
c.9014G>A
c.6180G>A (p.Gln2060=)
c.9198G>A
c.12114G>A (p.Gln4038=)
c.2268G>A (p.Gln756=)
c.3470G>A
c.1260+555G>A
c.3285G>A
n.289G>A
c.11988G>A (p.Gln3996=)
n.5917G>A
c.12117G>A (p.Gln4039=)
2g.73601436G>CCA347267298ALMS1c.11733G>C (p.Gln3911His)
c.11167-749G>C (n.11167-749G>C)
c.4819G>C
c.9014G>C
c.6180G>C (p.Gln2060His)
c.9198G>C
c.12114G>C (p.Gln4038His)
c.2268G>C (p.Gln756His)
c.3470G>C
c.1260+555G>C
c.3285G>C
n.289G>C
c.11988G>C (p.Gln3996His)
n.5917G>C
c.12117G>C (p.Gln4039His)
2g.73601436G>TCA347267303ALMS1c.11733G>T (p.Gln3911His)
c.11167-749G>T (n.11167-749G>T)
c.4819G>T
c.9014G>T
c.6180G>T (p.Gln2060His)
c.9198G>T
c.12114G>T (p.Gln4038His)
c.2268G>T (p.Gln756His)
c.3470G>T
c.1260+555G>T
c.3285G>T
n.289G>T
c.11988G>T (p.Gln3996His)
n.5917G>T
c.12117G>T (p.Gln4039His)
2g.73601436_73601446delinsGGTGCAGTGACCA1261034178ALMS1c.11733_11733+10delinsGGTGCAGTGAC
c.11167-749_11167-739delinsGGTGCAGTGAC (n.11167-749_11167-739delinsGGTGCAGTGAC)
c.4819_4819+10delinsGGTGCAGTGAC
c.9014_9014+10delinsGGTGCAGTGAC
c.6180_6180+10delinsGGTGCAGTGAC
c.9198_9198+10delinsGGTGCAGTGAC
c.12114_12114+10delinsGGTGCAGTGAC
c.2268_2268+10delinsGGTGCAGTGAC
c.3470_3470+10delinsGGTGCAGTGAC
c.1260+555_1260+565delinsGGTGCAGTGAC
c.3285_3285+10delinsGGTGCAGTGAC
n.289_289+10delinsGGTGCAGTGAC
c.11988_11988+10delinsGGTGCAGTGAC
n.5917_5917+10delinsGGTGCAGTGAC
c.12117_12117+10delinsGGTGCAGTGAC
2g.73601437_73601447delCA913090882ALMS1c.11733+1_11733+11del
c.11167-748_11167-738del (n.11167-748_11167-738del)
c.4819+1_4819+11del
c.9014+1_9014+11del
c.6180+1_6180+11del
c.9198+1_9198+11del
c.12114+1_12114+11del
c.2268+1_2268+11del
c.3470+1_3470+11del
c.1260+556_1260+566del
c.3285+1_3285+11del
n.289+1_289+11del
c.11988+1_11988+11del
n.5917+1_5917+11del
c.12117+1_12117+11del
2g.73601437G>ACA1715429ALMS1c.11733+1G>A (n.11733+1G>A)
c.11167-748G>A (n.11167-748G>A)
c.4819+1G>A
c.9014+1G>A
c.6180+1G>A (n.6180+1G>A)
c.9198+1G>A
c.12114+1G>A (n.12114+1G>A)
c.2268+1G>A (n.2268+1G>A)
c.3470+1G>A
c.1260+556G>A
c.3285+1G>A
n.289+1G>A
c.11988+1G>A (n.11988+1G>A)
n.5917+1G>A
c.12117+1G>A (n.12117+1G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73601437G>CCA347267311ALMS1c.11733+1G>C (n.11733+1G>C)
c.11167-748G>C (n.11167-748G>C)
c.4819+1G>C
c.9014+1G>C
c.6180+1G>C (n.6180+1G>C)
c.9198+1G>C
c.12114+1G>C (n.12114+1G>C)
c.2268+1G>C (n.2268+1G>C)
c.3470+1G>C
c.1260+556G>C
c.3285+1G>C
n.289+1G>C
c.11988+1G>C (n.11988+1G>C)
n.5917+1G>C
c.12117+1G>C (n.12117+1G>C)
2g.73601437G=CA1261034185ALMS1c.11733+1G= (n.11733+1G=)
c.11167-748G= (n.11167-748G=)
c.4819+1G=
c.9014+1G=
c.6180+1G= (n.6180+1G=)
c.9198+1G=
c.12114+1G= (n.12114+1G=)
c.2268+1G= (n.2268+1G=)
c.3470+1G=
c.1260+556G=
c.3285+1G=
n.289+1G=
c.11988+1G= (n.11988+1G=)
n.5917+1G=
c.12117+1G= (n.12117+1G=)
2g.73601437G>TCA347267315ALMS1c.11733+1G>T (n.11733+1G>T)
c.11167-748G>T (n.11167-748G>T)
c.4819+1G>T
c.9014+1G>T
c.6180+1G>T (n.6180+1G>T)
c.9198+1G>T
c.12114+1G>T (n.12114+1G>T)
c.2268+1G>T (n.2268+1G>T)
c.3470+1G>T
c.1260+556G>T
c.3285+1G>T
n.289+1G>T
c.11988+1G>T (n.11988+1G>T)
n.5917+1G>T
c.12117+1G>T (n.12117+1G>T)
 ClinVar dbSNP gnomAD v4
2g.73601439_73601448delCA533676030ALMS1c.11733+3_11733+12del (n.11733+3_11733+12del)
c.11167-746_11167-737del (n.11167-746_11167-737del)
c.4819+3_4819+12del
c.9014+3_9014+12del
c.6180+3_6180+12del (n.6180+3_6180+12del)
c.9198+3_9198+12del
c.12114+3_12114+12del (n.12114+3_12114+12del)
c.2268+3_2268+12del (n.2268+3_2268+12del)
c.3470+3_3470+12del
c.1260+558_1260+567del
c.3285+3_3285+12del
n.289+3_289+12del
c.11988+3_11988+12del (n.11988+3_11988+12del)
n.5917+3_5917+12del
c.12117+3_12117+12del (n.12117+3_12117+12del)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73601438T>ACA347267319ALMS1c.11733+2T>A (n.11733+2T>A)
c.11167-747T>A (n.11167-747T>A)
c.4819+2T>A
c.9014+2T>A
c.6180+2T>A (n.6180+2T>A)
c.9198+2T>A
c.12114+2T>A (n.12114+2T>A)
c.2268+2T>A (n.2268+2T>A)
c.3470+2T>A
c.1260+557T>A
c.3285+2T>A
n.289+2T>A
c.11988+2T>A (n.11988+2T>A)
n.5917+2T>A
c.12117+2T>A (n.12117+2T>A)
2g.73601438T>CCA347267321ALMS1c.11733+2T>C (n.11733+2T>C)
c.11167-747T>C (n.11167-747T>C)
c.4819+2T>C
c.9014+2T>C
c.6180+2T>C (n.6180+2T>C)
c.9198+2T>C
c.12114+2T>C (n.12114+2T>C)
c.2268+2T>C (n.2268+2T>C)
c.3470+2T>C
c.1260+557T>C
c.3285+2T>C
n.289+2T>C
c.11988+2T>C (n.11988+2T>C)
n.5917+2T>C
c.12117+2T>C (n.12117+2T>C)
2g.73601438T>GCA347267324ALMS1c.11733+2T>G (n.11733+2T>G)
c.11167-747T>G (n.11167-747T>G)
c.4819+2T>G
c.9014+2T>G
c.6180+2T>G (n.6180+2T>G)
c.9198+2T>G
c.12114+2T>G (n.12114+2T>G)
c.2268+2T>G (n.2268+2T>G)
c.3470+2T>G
c.1260+557T>G
c.3285+2T>G
n.289+2T>G
c.11988+2T>G (n.11988+2T>G)
n.5917+2T>G
c.12117+2T>G (n.12117+2T>G)
 dbSNP
2g.73601438T=CA1261034189ALMS1c.11733+2T= (n.11733+2T=)
c.11167-747T= (n.11167-747T=)
c.4819+2T=
c.9014+2T=
c.6180+2T= (n.6180+2T=)
c.9198+2T=
c.12114+2T= (n.12114+2T=)
c.2268+2T= (n.2268+2T=)
c.3470+2T=
c.1260+557T=
c.3285+2T=
n.289+2T=
c.11988+2T= (n.11988+2T=)
n.5917+2T=
c.12117+2T= (n.12117+2T=)
2g.73601439G>ACA2659621095ALMS1c.11733+3G>A (n.11733+3G>A)
c.11167-746G>A (n.11167-746G>A)
c.4819+3G>A
c.9014+3G>A
c.6180+3G>A (n.6180+3G>A)
c.9198+3G>A
c.12114+3G>A (n.12114+3G>A)
c.2268+3G>A (n.2268+3G>A)
c.3470+3G>A
c.1260+558G>A
c.3285+3G>A
n.289+3G>A
c.11988+3G>A (n.11988+3G>A)
n.5917+3G>A
c.12117+3G>A (n.12117+3G>A)
 gnomAD v4
2g.73601441_73601502dupCA533676034ALMS1c.11733+5_11733+66dup (n.11733+5_11733+66dup)
c.11167-744_11167-683dup (n.11167-744_11167-683dup)
c.4819+5_4819+66dup
c.9014+5_9014+66dup
c.6180+5_6180+66dup (n.6180+5_6180+66dup)
c.9198+5_9198+66dup
c.12114+5_12114+66dup (n.12114+5_12114+66dup)
c.2268+5_2268+66dup (n.2268+5_2268+66dup)
c.3470+5_3470+66dup
c.1260+560_1260+621dup
c.3285+5_3285+66dup
n.289+5_289+66dup
c.11988+5_11988+66dup (n.11988+5_11988+66dup)
n.5917+5_5917+66dup
c.12117+5_12117+66dup (n.12117+5_12117+66dup)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73601440delCA2750469794ALMS1c.11733+4del (n.11733+4del)
c.11167-745del (n.11167-745del)
c.4819+4del
c.9014+4del
c.6180+4del (n.6180+4del)
c.9198+4del
c.12114+4del (n.12114+4del)
c.2268+4del (n.2268+4del)
c.3470+4del
c.1260+559del
c.3285+4del
n.289+4del
c.11988+4del (n.11988+4del)
n.5917+4del
c.12117+4del (n.12117+4del)
2g.73601440C>ACA2549556772ALMS1c.11733+4C>A (n.11733+4C>A)
c.11167-745C>A (n.11167-745C>A)
c.4819+4C>A
c.9014+4C>A
c.6180+4C>A (n.6180+4C>A)
c.9198+4C>A
c.12114+4C>A (n.12114+4C>A)
c.2268+4C>A (n.2268+4C>A)
c.3470+4C>A
c.1260+559C>A
c.3285+4C>A
n.289+4C>A
c.11988+4C>A (n.11988+4C>A)
n.5917+4C>A
c.12117+4C>A (n.12117+4C>A)
2g.73601440C=CA1261034193ALMS1c.11733+4C= (n.11733+4C=)
c.11167-745C= (n.11167-745C=)
c.4819+4C=
c.9014+4C=
c.6180+4C= (n.6180+4C=)
c.9198+4C=
c.12114+4C= (n.12114+4C=)
c.2268+4C= (n.2268+4C=)
c.3470+4C=
c.1260+559C=
c.3285+4C=
n.289+4C=
c.11988+4C= (n.11988+4C=)
n.5917+4C=
c.12117+4C= (n.12117+4C=)
2g.73601440C>TCA10582106ALMS1c.11733+4C>T (n.11733+4C>T)
c.11167-745C>T (n.11167-745C>T)
c.4819+4C>T
c.9014+4C>T
c.6180+4C>T (n.6180+4C>T)
c.9198+4C>T
c.12114+4C>T (n.12114+4C>T)
c.2268+4C>T (n.2268+4C>T)
c.3470+4C>T
c.1260+559C>T
c.3285+4C>T
n.289+4C>T
c.11988+4C>T (n.11988+4C>T)
n.5917+4C>T
c.12117+4C>T (n.12117+4C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73601441A=CA1261034197ALMS1c.11733+5A= (n.11733+5A=)
c.11167-744A= (n.11167-744A=)
c.4819+5A=
c.9014+5A=
c.6180+5A= (n.6180+5A=)
c.9198+5A=
c.12114+5A= (n.12114+5A=)
c.2268+5A= (n.2268+5A=)
c.3470+5A=
c.1260+560A=
c.3285+5A=
n.289+5A=
c.11988+5A= (n.11988+5A=)
n.5917+5A=
c.12117+5A= (n.12117+5A=)
2g.73601441A>GCA50337454ALMS1c.11733+5A>G (n.11733+5A>G)
c.11167-744A>G (n.11167-744A>G)
c.4819+5A>G
c.9014+5A>G
c.6180+5A>G (n.6180+5A>G)
c.9198+5A>G
c.12114+5A>G (n.12114+5A>G)
c.2268+5A>G (n.2268+5A>G)
c.3470+5A>G
c.1260+560A>G
c.3285+5A>G
n.289+5A>G
c.11988+5A>G (n.11988+5A>G)
n.5917+5A>G
c.12117+5A>G (n.12117+5A>G)
 dbSNP gnomAD v3 gnomAD v4
2g.73601441A>TCA2659621096ALMS1c.11733+5A>T (n.11733+5A>T)
c.11167-744A>T (n.11167-744A>T)
c.4819+5A>T
c.9014+5A>T
c.6180+5A>T (n.6180+5A>T)
c.9198+5A>T
c.12114+5A>T (n.12114+5A>T)
c.2268+5A>T (n.2268+5A>T)
c.3470+5A>T
c.1260+560A>T
c.3285+5A>T
n.289+5A>T
c.11988+5A>T (n.11988+5A>T)
n.5917+5A>T
c.12117+5A>T (n.12117+5A>T)
 gnomAD v4
2g.73601443_73601444insAGACA2750469795ALMS1c.11733+7_11733+8insAGA (n.11733+7_11733+8insAGA)
c.11167-742_11167-741insAGA (n.11167-742_11167-741insAGA)
c.4819+7_4819+8insAGA
c.9014+7_9014+8insAGA
c.6180+7_6180+8insAGA (n.6180+7_6180+8insAGA)
c.9198+7_9198+8insAGA
c.12114+7_12114+8insAGA (n.12114+7_12114+8insAGA)
c.2268+7_2268+8insAGA (n.2268+7_2268+8insAGA)
c.3470+7_3470+8insAGA
c.1260+562_1260+563insAGA
c.3285+7_3285+8insAGA
n.289+7_289+8insAGA
c.11988+7_11988+8insAGA (n.11988+7_11988+8insAGA)
n.5917+7_5917+8insAGA
c.12117+7_12117+8insAGA (n.12117+7_12117+8insAGA)
2g.73601444delCA2750469797ALMS1c.11733+8del (n.11733+8del)
c.11167-741del (n.11167-741del)
c.4819+8del
c.9014+8del
c.6180+8del (n.6180+8del)
c.9198+8del
c.12114+8del (n.12114+8del)
c.2268+8del (n.2268+8del)
c.3470+8del
c.1260+563del
c.3285+8del
n.289+8del
c.11988+8del (n.11988+8del)
n.5917+8del
c.12117+8del (n.12117+8del)
2g.73601444G>CCA2699572972ALMS1c.11733+8G>C (n.11733+8G>C)
c.11167-741G>C (n.11167-741G>C)
c.4819+8G>C
c.9014+8G>C
c.6180+8G>C (n.6180+8G>C)
c.9198+8G>C
c.12114+8G>C (n.12114+8G>C)
c.2268+8G>C (n.2268+8G>C)
c.3470+8G>C
c.1260+563G>C
c.3285+8G>C
n.289+8G>C
c.11988+8G>C (n.11988+8G>C)
n.5917+8G>C
c.12117+8G>C (n.12117+8G>C)
 dbSNP
2g.73601444_73601450delCA2750469796ALMS1c.11733+8_11733+14del (n.11733+8_11733+14del)
c.11167-741_11167-735del (n.11167-741_11167-735del)
c.4819+8_4819+14del
c.9014+8_9014+14del
c.6180+8_6180+14del (n.6180+8_6180+14del)
c.9198+8_9198+14del
c.12114+8_12114+14del (n.12114+8_12114+14del)
c.2268+8_2268+14del (n.2268+8_2268+14del)
c.3470+8_3470+14del
c.1260+563_1260+569del
c.3285+8_3285+14del
n.289+8_289+14del
c.11988+8_11988+14del (n.11988+8_11988+14del)
n.5917+8_5917+14del
c.12117+8_12117+14del (n.12117+8_12117+14del)

Number of alleles fetched