Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.73572782_73572797del | CA2750467825 | ALMS1 | c.10524_10539del (p.Leu3509HisfsTer20) c.3610_3625del c.7805_7820del c.4971_4986del (p.Leu1658HisfsTer20) c.7850_7865del c.10905_10920del (p.Leu3636HisfsTer20) c.1059_1074del (p.Leu354HisfsTer20) c.2261_2276del c.293_308del c.2002_2017del c.4396_4411del (n.4396_4411del) c.10779_10794del (p.Leu3594HisfsTer20) n.4708_4723del c.10908_10923del (p.Leu3637HisfsTer20) | |
2 | g.73572783C>A | CA347286102 | ALMS1 | c.10525C>A (p.Leu3509Ile) c.3611C>A c.7806C>A c.4972C>A (p.Leu1658Ile) c.7851C>A c.10906C>A (p.Leu3636Ile) c.1060C>A (p.Leu354Ile) c.2262C>A c.294C>A c.2003C>A c.4397C>A (n.4397C>A) c.10780C>A (p.Leu3594Ile) n.4709C>A c.10909C>A (p.Leu3637Ile) | ClinVar dbSNP gnomAD v4 |
2 | g.73572783C= | CA1261021919 | ALMS1 | c.10525C= (p.Leu3509=) c.3611C= c.7806C= c.4972C= (p.Leu1658=) c.7851C= c.10906C= (p.Leu3636=) c.1060C= (p.Leu354=) c.2262C= c.294C= c.2003C= c.4397C= (n.4397C=) c.10780C= (p.Leu3594=) n.4709C= c.10909C= (p.Leu3637=) | |
2 | g.73572783C>G | CA347286104 | ALMS1 | c.10525C>G (p.Leu3509Val) c.3611C>G c.7806C>G c.4972C>G (p.Leu1658Val) c.7851C>G c.10906C>G (p.Leu3636Val) c.1060C>G (p.Leu354Val) c.2262C>G c.294C>G c.2003C>G c.4397C>G (n.4397C>G) c.10780C>G (p.Leu3594Val) n.4709C>G c.10909C>G (p.Leu3637Val) | |
2 | g.73572783C>T | CA347286105 | ALMS1 | c.10525C>T (p.Leu3509Phe) c.3611C>T c.7806C>T c.4972C>T (p.Leu1658Phe) c.7851C>T c.10906C>T (p.Leu3636Phe) c.1060C>T (p.Leu354Phe) c.2262C>T c.294C>T c.2003C>T c.4397C>T (n.4397C>T) c.10780C>T (p.Leu3594Phe) n.4709C>T c.10909C>T (p.Leu3637Phe) | |
2 | g.73572784T>A | CA347286107 | ALMS1 | c.10526T>A (p.Leu3509His) c.3612T>A c.7807T>A c.4973T>A (p.Leu1658His) c.7852T>A c.10907T>A (p.Leu3636His) c.1061T>A (p.Leu354His) c.2263T>A c.295T>A c.2004T>A c.4398T>A (n.4398T>A) c.10781T>A (p.Leu3594His) n.4710T>A c.10910T>A (p.Leu3637His) | |
2 | g.73572784T>C | CA347286109 | ALMS1 | c.10526T>C (p.Leu3509Pro) c.3612T>C c.7807T>C c.4973T>C (p.Leu1658Pro) c.7852T>C c.10907T>C (p.Leu3636Pro) c.1061T>C (p.Leu354Pro) c.2263T>C c.295T>C c.2004T>C c.4398T>C (n.4398T>C) c.10781T>C (p.Leu3594Pro) n.4710T>C c.10910T>C (p.Leu3637Pro) | ClinVar dbSNP |
2 | g.73572784T>G | CA347286111 | ALMS1 | c.10526T>G (p.Leu3509Arg) c.3612T>G c.7807T>G c.4973T>G (p.Leu1658Arg) c.7852T>G c.10907T>G (p.Leu3636Arg) c.1061T>G (p.Leu354Arg) c.2263T>G c.295T>G c.2004T>G c.4398T>G (n.4398T>G) c.10781T>G (p.Leu3594Arg) n.4710T>G c.10910T>G (p.Leu3637Arg) | |
2 | g.73572785T>A | CA427024065 | ALMS1 | c.10527T>A (p.Leu3509=) c.3613T>A c.7808T>A c.4974T>A (p.Leu1658=) c.7853T>A c.10908T>A (p.Leu3636=) c.1062T>A (p.Leu354=) c.2264T>A c.296T>A c.2005T>A c.4399T>A (n.4399T>A) c.10782T>A (p.Leu3594=) n.4711T>A c.10911T>A (p.Leu3637=) | |
2 | g.73572785T>C | CA427024066 | ALMS1 | c.10527T>C (p.Leu3509=) c.3613T>C c.7808T>C c.4974T>C (p.Leu1658=) c.7853T>C c.10908T>C (p.Leu3636=) c.1062T>C (p.Leu354=) c.2264T>C c.296T>C c.2005T>C c.4399T>C (n.4399T>C) c.10782T>C (p.Leu3594=) n.4711T>C c.10911T>C (p.Leu3637=) | |
2 | g.73572785T>G | CA427024067 | ALMS1 | c.10527T>G (p.Leu3509=) c.3613T>G c.7808T>G c.4974T>G (p.Leu1658=) c.7853T>G c.10908T>G (p.Leu3636=) c.1062T>G (p.Leu354=) c.2264T>G c.296T>G c.2005T>G c.4399T>G (n.4399T>G) c.10782T>G (p.Leu3594=) n.4711T>G c.10911T>G (p.Leu3637=) | |
2 | g.73572786C>A | CA347286117 | ALMS1 | c.10528C>A (p.Gln3510Lys) c.3614C>A c.7809C>A c.4975C>A (p.Gln1659Lys) c.7854C>A c.10909C>A (p.Gln3637Lys) c.1063C>A (p.Gln355Lys) c.2265C>A c.297C>A c.2006C>A c.4400C>A (n.4400C>A) c.10783C>A (p.Gln3595Lys) n.4712C>A c.10912C>A (p.Gln3638Lys) | gnomAD v4 |
2 | g.73572786C= | CA1261021922 | ALMS1 | c.10528C= (p.Gln3510=) c.3614C= c.7809C= c.4975C= (p.Gln1659=) c.7854C= c.10909C= (p.Gln3637=) c.1063C= (p.Gln355=) c.2265C= c.297C= c.2006C= c.4400C= (n.4400C=) c.10783C= (p.Gln3595=) n.4712C= c.10912C= (p.Gln3638=) | |
2 | g.73572786C>G | CA1715089 | ALMS1 | c.10528C>G (p.Gln3510Glu) c.3614C>G c.7809C>G c.4975C>G (p.Gln1659Glu) c.7854C>G c.10909C>G (p.Gln3637Glu) c.1063C>G (p.Gln355Glu) c.2265C>G c.297C>G c.2006C>G c.4400C>G (n.4400C>G) c.10783C>G (p.Gln3595Glu) n.4712C>G c.10912C>G (p.Gln3638Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572786C>T | CA347286114 | ALMS1 | c.10528C>T (p.Gln3510Ter) c.3614C>T c.7809C>T c.4975C>T (p.Gln1659Ter) c.7854C>T c.10909C>T (p.Gln3637Ter) c.1063C>T (p.Gln355Ter) c.2265C>T c.297C>T c.2006C>T c.4400C>T (n.4400C>T) c.10783C>T (p.Gln3595Ter) n.4712C>T c.10912C>T (p.Gln3638Ter) | ClinVar |
2 | g.73572787A= | CA1261021930 | ALMS1 | c.10529A= (p.Gln3510=) c.3615A= c.7810A= c.4976A= (p.Gln1659=) c.7855A= c.10910A= (p.Gln3637=) c.1064A= (p.Gln355=) c.2266A= c.298A= c.2007A= c.4401A= (n.4401A=) c.10784A= (p.Gln3595=) n.4713A= c.10913A= (p.Gln3638=) | |
2 | g.73572787A>C | CA347286122 | ALMS1 | c.10529A>C (p.Gln3510Pro) c.3615A>C c.7810A>C c.4976A>C (p.Gln1659Pro) c.7855A>C c.10910A>C (p.Gln3637Pro) c.1064A>C (p.Gln355Pro) c.2266A>C c.298A>C c.2007A>C c.4401A>C (n.4401A>C) c.10784A>C (p.Gln3595Pro) n.4713A>C c.10913A>C (p.Gln3638Pro) | |
2 | g.73572787A>G | CA347286128 | ALMS1 | c.10529A>G (p.Gln3510Arg) c.3615A>G c.7810A>G c.4976A>G (p.Gln1659Arg) c.7855A>G c.10910A>G (p.Gln3637Arg) c.1064A>G (p.Gln355Arg) c.2266A>G c.298A>G c.2007A>G c.4401A>G (n.4401A>G) c.10784A>G (p.Gln3595Arg) n.4713A>G c.10913A>G (p.Gln3638Arg) | dbSNP |
2 | g.73572787A>T | CA347286125 | ALMS1 | c.10529A>T (p.Gln3510Leu) c.3615A>T c.7810A>T c.4976A>T (p.Gln1659Leu) c.7855A>T c.10910A>T (p.Gln3637Leu) c.1064A>T (p.Gln355Leu) c.2266A>T c.298A>T c.2007A>T c.4401A>T (n.4401A>T) c.10784A>T (p.Gln3595Leu) n.4713A>T c.10913A>T (p.Gln3638Leu) | |
2 | g.73572788G>A | CA427024072 | ALMS1 | c.10530G>A (p.Gln3510=) c.3616G>A c.7811G>A c.4977G>A (p.Gln1659=) c.7856G>A c.10911G>A (p.Gln3637=) c.1065G>A (p.Gln355=) c.2267G>A c.299G>A c.2008G>A c.4402G>A (n.4402G>A) c.10785G>A (p.Gln3595=) n.4714G>A c.10914G>A (p.Gln3638=) | |
2 | g.73572788G>C | CA347286131 | ALMS1 | c.10530G>C (p.Gln3510His) c.3616G>C c.7811G>C c.4977G>C (p.Gln1659His) c.7856G>C c.10911G>C (p.Gln3637His) c.1065G>C (p.Gln355His) c.2267G>C c.299G>C c.2008G>C c.4402G>C (n.4402G>C) c.10785G>C (p.Gln3595His) n.4714G>C c.10914G>C (p.Gln3638His) | |
2 | g.73572788G>T | CA347286134 | ALMS1 | c.10530G>T (p.Gln3510His) c.3616G>T c.7811G>T c.4977G>T (p.Gln1659His) c.7856G>T c.10911G>T (p.Gln3637His) c.1065G>T (p.Gln355His) c.2267G>T c.299G>T c.2008G>T c.4402G>T (n.4402G>T) c.10785G>T (p.Gln3595His) n.4714G>T c.10914G>T (p.Gln3638His) | |
2 | g.73572789A>C | CA347286138 | ALMS1 | c.10531A>C (p.Asn3511His) c.3617A>C c.7812A>C c.4978A>C (p.Asn1660His) c.7857A>C c.10912A>C (p.Asn3638His) c.1066A>C (p.Asn356His) c.2268A>C c.300A>C c.2009A>C c.4403A>C (n.4403A>C) c.10786A>C (p.Asn3596His) n.4715A>C c.10915A>C (p.Asn3639His) | |
2 | g.73572789A>G | CA347286141 | ALMS1 | c.10531A>G (p.Asn3511Asp) c.3617A>G c.7812A>G c.4978A>G (p.Asn1660Asp) c.7857A>G c.10912A>G (p.Asn3638Asp) c.1066A>G (p.Asn356Asp) c.2268A>G c.300A>G c.2009A>G c.4403A>G (n.4403A>G) c.10786A>G (p.Asn3596Asp) n.4715A>G c.10915A>G (p.Asn3639Asp) | |
2 | g.73572789A>T | CA347286144 | ALMS1 | c.10531A>T (p.Asn3511Tyr) c.3617A>T c.7812A>T c.4978A>T (p.Asn1660Tyr) c.7857A>T c.10912A>T (p.Asn3638Tyr) c.1066A>T (p.Asn356Tyr) c.2268A>T c.300A>T c.2009A>T c.4403A>T (n.4403A>T) c.10786A>T (p.Asn3596Tyr) n.4715A>T c.10915A>T (p.Asn3639Tyr) | |
2 | g.73572790A>C | CA347286148 | ALMS1 | c.10532A>C (p.Asn3511Thr) c.3618A>C c.7813A>C c.4979A>C (p.Asn1660Thr) c.7858A>C c.10913A>C (p.Asn3638Thr) c.1067A>C (p.Asn356Thr) c.2269A>C c.301A>C c.2010A>C c.4404A>C (n.4404A>C) c.10787A>C (p.Asn3596Thr) n.4716A>C c.10916A>C (p.Asn3639Thr) | |
2 | g.73572790A>G | CA347286149 | ALMS1 | c.10532A>G (p.Asn3511Ser) c.3618A>G c.7813A>G c.4979A>G (p.Asn1660Ser) c.7858A>G c.10913A>G (p.Asn3638Ser) c.1067A>G (p.Asn356Ser) c.2269A>G c.301A>G c.2010A>G c.4404A>G (n.4404A>G) c.10787A>G (p.Asn3596Ser) n.4716A>G c.10916A>G (p.Asn3639Ser) | |
2 | g.73572790A>T | CA347286153 | ALMS1 | c.10532A>T (p.Asn3511Ile) c.3618A>T c.7813A>T c.4979A>T (p.Asn1660Ile) c.7858A>T c.10913A>T (p.Asn3638Ile) c.1067A>T (p.Asn356Ile) c.2269A>T c.301A>T c.2010A>T c.4404A>T (n.4404A>T) c.10787A>T (p.Asn3596Ile) n.4716A>T c.10916A>T (p.Asn3639Ile) | gnomAD v4 |
2 | g.73572791T>A | CA347286157 | ALMS1 | c.10533T>A (p.Asn3511Lys) c.3619T>A c.7814T>A c.4980T>A (p.Asn1660Lys) c.7859T>A c.10914T>A (p.Asn3638Lys) c.1068T>A (p.Asn356Lys) c.2270T>A c.302T>A c.2011T>A c.4405T>A (n.4405T>A) c.10788T>A (p.Asn3596Lys) n.4717T>A c.10917T>A (p.Asn3639Lys) | |
2 | g.73572791T>C | CA427024079 | ALMS1 | c.10533T>C (p.Asn3511=) c.3619T>C c.7814T>C c.4980T>C (p.Asn1660=) c.7859T>C c.10914T>C (p.Asn3638=) c.1068T>C (p.Asn356=) c.2270T>C c.302T>C c.2011T>C c.4405T>C (n.4405T>C) c.10788T>C (p.Asn3596=) n.4717T>C c.10917T>C (p.Asn3639=) | ClinVar dbSNP |
2 | g.73572791T>G | CA347286159 | ALMS1 | c.10533T>G (p.Asn3511Lys) c.3619T>G c.7814T>G c.4980T>G (p.Asn1660Lys) c.7859T>G c.10914T>G (p.Asn3638Lys) c.1068T>G (p.Asn356Lys) c.2270T>G c.302T>G c.2011T>G c.4405T>G (n.4405T>G) c.10788T>G (p.Asn3596Lys) n.4717T>G c.10917T>G (p.Asn3639Lys) | |
2 | g.73572792C>A | CA347286162 | ALMS1 | c.10534C>A (p.Pro3512Thr) c.3620C>A c.7815C>A c.4981C>A (p.Pro1661Thr) c.7860C>A c.10915C>A (p.Pro3639Thr) c.1069C>A (p.Pro357Thr) c.2271C>A c.303C>A c.2012C>A c.4406C>A (n.4406C>A) c.10789C>A (p.Pro3597Thr) n.4718C>A c.10918C>A (p.Pro3640Thr) | |
2 | g.73572792C= | CA1261021936 | ALMS1 | c.10534C= (p.Pro3512=) c.3620C= c.7815C= c.4981C= (p.Pro1661=) c.7860C= c.10915C= (p.Pro3639=) c.1069C= (p.Pro357=) c.2271C= c.303C= c.2012C= c.4406C= (n.4406C=) c.10789C= (p.Pro3597=) n.4718C= c.10918C= (p.Pro3640=) | |
2 | g.73572792C>G | CA1715090 | ALMS1 | c.10534C>G (p.Pro3512Ala) c.3620C>G c.7815C>G c.4981C>G (p.Pro1661Ala) c.7860C>G c.10915C>G (p.Pro3639Ala) c.1069C>G (p.Pro357Ala) c.2271C>G c.303C>G c.2012C>G c.4406C>G (n.4406C>G) c.10789C>G (p.Pro3597Ala) n.4718C>G c.10918C>G (p.Pro3640Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572792C>T | CA347286165 | ALMS1 | c.10534C>T (p.Pro3512Ser) c.3620C>T c.7815C>T c.4981C>T (p.Pro1661Ser) c.7860C>T c.10915C>T (p.Pro3639Ser) c.1069C>T (p.Pro357Ser) c.2271C>T c.303C>T c.2012C>T c.4406C>T (n.4406C>T) c.10789C>T (p.Pro3597Ser) n.4718C>T c.10918C>T (p.Pro3640Ser) | |
2 | g.73572793C>A | CA347286176 | ALMS1 | c.10535C>A (p.Pro3512Gln) c.3621C>A c.7816C>A c.4982C>A (p.Pro1661Gln) c.7861C>A c.10916C>A (p.Pro3639Gln) c.1070C>A (p.Pro357Gln) c.2272C>A c.304C>A c.2013C>A c.4407C>A (n.4407C>A) c.10790C>A (p.Pro3597Gln) n.4719C>A c.10919C>A (p.Pro3640Gln) | |
2 | g.73572793C>G | CA347286173 | ALMS1 | c.10535C>G (p.Pro3512Arg) c.3621C>G c.7816C>G c.4982C>G (p.Pro1661Arg) c.7861C>G c.10916C>G (p.Pro3639Arg) c.1070C>G (p.Pro357Arg) c.2272C>G c.304C>G c.2013C>G c.4407C>G (n.4407C>G) c.10790C>G (p.Pro3597Arg) n.4719C>G c.10919C>G (p.Pro3640Arg) | |
2 | g.73572793C>T | CA347286169 | ALMS1 | c.10535C>T (p.Pro3512Leu) c.3621C>T c.7816C>T c.4982C>T (p.Pro1661Leu) c.7861C>T c.10916C>T (p.Pro3639Leu) c.1070C>T (p.Pro357Leu) c.2272C>T c.304C>T c.2013C>T c.4407C>T (n.4407C>T) c.10790C>T (p.Pro3597Leu) n.4719C>T c.10919C>T (p.Pro3640Leu) | ClinVar gnomAD v4 |
2 | g.73572794A>C | CA427024083 | ALMS1 | c.10536A>C (p.Pro3512=) c.3622A>C c.7817A>C c.4983A>C (p.Pro1661=) c.7862A>C c.10917A>C (p.Pro3639=) c.1071A>C (p.Pro357=) c.2273A>C c.305A>C c.2014A>C c.4408A>C (n.4408A>C) c.10791A>C (p.Pro3597=) n.4720A>C c.10920A>C (p.Pro3640=) | |
2 | g.73572794A>G | CA427024086 | ALMS1 | c.10536A>G (p.Pro3512=) c.3622A>G c.7817A>G c.4983A>G (p.Pro1661=) c.7862A>G c.10917A>G (p.Pro3639=) c.1071A>G (p.Pro357=) c.2273A>G c.305A>G c.2014A>G c.4408A>G (n.4408A>G) c.10791A>G (p.Pro3597=) n.4720A>G c.10920A>G (p.Pro3640=) | gnomAD v4 |
2 | g.73572794A>T | CA427024084 | ALMS1 | c.10536A>T (p.Pro3512=) c.3622A>T c.7817A>T c.4983A>T (p.Pro1661=) c.7862A>T c.10917A>T (p.Pro3639=) c.1071A>T (p.Pro357=) c.2273A>T c.305A>T c.2014A>T c.4408A>T (n.4408A>T) c.10791A>T (p.Pro3597=) n.4720A>T c.10920A>T (p.Pro3640=) | |
2 | g.73572795A>C | CA347286181 | ALMS1 | c.10537A>C (p.Ile3513Leu) c.3623A>C c.7818A>C c.4984A>C (p.Ile1662Leu) c.7863A>C c.10918A>C (p.Ile3640Leu) c.1072A>C (p.Ile358Leu) c.2274A>C c.306A>C c.2015A>C c.4409A>C (n.4409A>C) c.10792A>C (p.Ile3598Leu) n.4721A>C c.10921A>C (p.Ile3641Leu) | |
2 | g.73572795A>G | CA347286183 | ALMS1 | c.10537A>G (p.Ile3513Val) c.3623A>G c.7818A>G c.4984A>G (p.Ile1662Val) c.7863A>G c.10918A>G (p.Ile3640Val) c.1072A>G (p.Ile358Val) c.2274A>G c.306A>G c.2015A>G c.4409A>G (n.4409A>G) c.10792A>G (p.Ile3598Val) n.4721A>G c.10921A>G (p.Ile3641Val) | ClinVar |
2 | g.73572795A>T | CA347286186 | ALMS1 | c.10537A>T (p.Ile3513Phe) c.3623A>T c.7818A>T c.4984A>T (p.Ile1662Phe) c.7863A>T c.10918A>T (p.Ile3640Phe) c.1072A>T (p.Ile358Phe) c.2274A>T c.306A>T c.2015A>T c.4409A>T (n.4409A>T) c.10792A>T (p.Ile3598Phe) n.4721A>T c.10921A>T (p.Ile3641Phe) | |
2 | g.73572796T>A | CA347286190 | ALMS1 | c.10538T>A (p.Ile3513Asn) c.3624T>A c.7819T>A c.4985T>A (p.Ile1662Asn) c.7864T>A c.10919T>A (p.Ile3640Asn) c.1073T>A (p.Ile358Asn) c.2275T>A c.307T>A c.2016T>A c.4410T>A (n.4410T>A) c.10793T>A (p.Ile3598Asn) n.4722T>A c.10922T>A (p.Ile3641Asn) | |
2 | g.73572796T>C | CA347286193 | ALMS1 | c.10538T>C (p.Ile3513Thr) c.3624T>C c.7819T>C c.4985T>C (p.Ile1662Thr) c.7864T>C c.10919T>C (p.Ile3640Thr) c.1073T>C (p.Ile358Thr) c.2275T>C c.307T>C c.2016T>C c.4410T>C (n.4410T>C) c.10793T>C (p.Ile3598Thr) n.4722T>C c.10922T>C (p.Ile3641Thr) | |
2 | g.73572796T>G | CA347286196 | ALMS1 | c.10538T>G (p.Ile3513Ser) c.3624T>G c.7819T>G c.4985T>G (p.Ile1662Ser) c.7864T>G c.10919T>G (p.Ile3640Ser) c.1073T>G (p.Ile358Ser) c.2275T>G c.307T>G c.2016T>G c.4410T>G (n.4410T>G) c.10793T>G (p.Ile3598Ser) n.4722T>G c.10922T>G (p.Ile3641Ser) | |
2 | g.73572797C>A | CA427024092 | ALMS1 | c.10539C>A (p.Ile3513=) c.3625C>A c.7820C>A c.4986C>A (p.Ile1662=) c.7865C>A c.10920C>A (p.Ile3640=) c.1074C>A (p.Ile358=) c.2276C>A c.308C>A c.2017C>A c.4411C>A (n.4411C>A) c.10794C>A (p.Ile3598=) n.4723C>A c.10923C>A (p.Ile3641=) | |
2 | g.73572797C= | CA1261021939 | ALMS1 | c.10539C= (p.Ile3513=) c.3625C= c.7820C= c.4986C= (p.Ile1662=) c.7865C= c.10920C= (p.Ile3640=) c.1074C= (p.Ile358=) c.2276C= c.308C= c.2017C= c.4411C= (n.4411C=) c.10794C= (p.Ile3598=) n.4723C= c.10923C= (p.Ile3641=) | |
2 | g.73572797C>G | CA347286199 | ALMS1 | c.10539C>G (p.Ile3513Met) c.3625C>G c.7820C>G c.4986C>G (p.Ile1662Met) c.7865C>G c.10920C>G (p.Ile3640Met) c.1074C>G (p.Ile358Met) c.2276C>G c.308C>G c.2017C>G c.4411C>G (n.4411C>G) c.10794C>G (p.Ile3598Met) n.4723C>G c.10923C>G (p.Ile3641Met) | dbSNP gnomAD v4 |
2 | g.73572797C>T | CA427024095 | ALMS1 | c.10539C>T (p.Ile3513=) c.3625C>T c.7820C>T c.4986C>T (p.Ile1662=) c.7865C>T c.10920C>T (p.Ile3640=) c.1074C>T (p.Ile358=) c.2276C>T c.308C>T c.2017C>T c.4411C>T (n.4411C>T) c.10794C>T (p.Ile3598=) n.4723C>T c.10923C>T (p.Ile3641=) | gnomAD v4 |
2 | g.73572798A= | CA1261021944 | ALMS1 | c.10540A= (p.Thr3514=) c.3626A= c.7821A= c.4987A= (p.Thr1663=) c.7866A= c.10921A= (p.Thr3641=) c.1075A= (p.Thr359=) c.2277A= c.309A= c.2018A= c.4412A= (n.4412A=) c.10795A= (p.Thr3599=) n.4724A= c.10924A= (p.Thr3642=) | |
2 | g.73572798A>C | CA347286202 | ALMS1 | c.10540A>C (p.Thr3514Pro) c.3626A>C c.7821A>C c.4987A>C (p.Thr1663Pro) c.7866A>C c.10921A>C (p.Thr3641Pro) c.1075A>C (p.Thr359Pro) c.2277A>C c.309A>C c.2018A>C c.4412A>C (n.4412A>C) c.10795A>C (p.Thr3599Pro) n.4724A>C c.10924A>C (p.Thr3642Pro) | |
2 | g.73572798A>G | CA347286204 | ALMS1 | c.10540A>G (p.Thr3514Ala) c.3626A>G c.7821A>G c.4987A>G (p.Thr1663Ala) c.7866A>G c.10921A>G (p.Thr3641Ala) c.1075A>G (p.Thr359Ala) c.2277A>G c.309A>G c.2018A>G c.4412A>G (n.4412A>G) c.10795A>G (p.Thr3599Ala) n.4724A>G c.10924A>G (p.Thr3642Ala) | |
2 | g.73572798A>T | CA347286206 | ALMS1 | c.10540A>T (p.Thr3514Ser) c.3626A>T c.7821A>T c.4987A>T (p.Thr1663Ser) c.7866A>T c.10921A>T (p.Thr3641Ser) c.1075A>T (p.Thr359Ser) c.2277A>T c.309A>T c.2018A>T c.4412A>T (n.4412A>T) c.10795A>T (p.Thr3599Ser) n.4724A>T c.10924A>T (p.Thr3642Ser) | dbSNP |
2 | g.73572799C>A | CA347286209 | ALMS1 | c.10541C>A (p.Thr3514Lys) c.3627C>A c.7822C>A c.4988C>A (p.Thr1663Lys) c.7867C>A c.10922C>A (p.Thr3641Lys) c.1076C>A (p.Thr359Lys) c.2278C>A c.310C>A c.2019C>A c.4413C>A (n.4413C>A) c.10796C>A (p.Thr3599Lys) n.4725C>A c.10925C>A (p.Thr3642Lys) | |
2 | g.73572799C>G | CA347286212 | ALMS1 | c.10541C>G (p.Thr3514Arg) c.3627C>G c.7822C>G c.4988C>G (p.Thr1663Arg) c.7867C>G c.10922C>G (p.Thr3641Arg) c.1076C>G (p.Thr359Arg) c.2278C>G c.310C>G c.2019C>G c.4413C>G (n.4413C>G) c.10796C>G (p.Thr3599Arg) n.4725C>G c.10925C>G (p.Thr3642Arg) | |
2 | g.73572799C>T | CA347286216 | ALMS1 | c.10541C>T (p.Thr3514Ile) c.3627C>T c.7822C>T c.4988C>T (p.Thr1663Ile) c.7867C>T c.10922C>T (p.Thr3641Ile) c.1076C>T (p.Thr359Ile) c.2278C>T c.310C>T c.2019C>T c.4413C>T (n.4413C>T) c.10796C>T (p.Thr3599Ile) n.4725C>T c.10925C>T (p.Thr3642Ile) | |
2 | g.73572800A= | CA1261021947 | ALMS1 | c.10542A= (p.Thr3514=) c.3628A= c.7823A= c.4989A= (p.Thr1663=) c.7868A= c.10923A= (p.Thr3641=) c.1077A= (p.Thr359=) c.2279A= c.311A= c.2020A= c.4414A= (n.4414A=) c.10797A= (p.Thr3599=) n.4726A= c.10926A= (p.Thr3642=) | |
2 | g.73572800A>C | CA427024100 | ALMS1 | c.10542A>C (p.Thr3514=) c.3628A>C c.7823A>C c.4989A>C (p.Thr1663=) c.7868A>C c.10923A>C (p.Thr3641=) c.1077A>C (p.Thr359=) c.2279A>C c.311A>C c.2020A>C c.4414A>C (n.4414A>C) c.10797A>C (p.Thr3599=) n.4726A>C c.10926A>C (p.Thr3642=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.73572800A>G | CA50386542 | ALMS1 | c.10542A>G (p.Thr3514=) c.3628A>G c.7823A>G c.4989A>G (p.Thr1663=) c.7868A>G c.10923A>G (p.Thr3641=) c.1077A>G (p.Thr359=) c.2279A>G c.311A>G c.2020A>G c.4414A>G (n.4414A>G) c.10797A>G (p.Thr3599=) n.4726A>G c.10926A>G (p.Thr3642=) | ClinVar dbSNP gnomAD v4 |
2 | g.73572800A>T | CA427024101 | ALMS1 | c.10542A>T (p.Thr3514=) c.3628A>T c.7823A>T c.4989A>T (p.Thr1663=) c.7868A>T c.10923A>T (p.Thr3641=) c.1077A>T (p.Thr359=) c.2279A>T c.311A>T c.2020A>T c.4414A>T (n.4414A>T) c.10797A>T (p.Thr3599=) n.4726A>T c.10926A>T (p.Thr3642=) | gnomAD v4 |
2 | g.73572801C>A | CA347286232 | ALMS1 | c.10543C>A (p.His3515Asn) c.3629C>A c.7824C>A c.4990C>A (p.His1664Asn) c.7869C>A c.10924C>A (p.His3642Asn) c.1078C>A (p.His360Asn) c.2280C>A c.312C>A c.2021C>A c.4415C>A (n.4415C>A) c.10798C>A (p.His3600Asn) n.4727C>A c.10927C>A (p.His3643Asn) | |
2 | g.73572801C>G | CA347286225 | ALMS1 | c.10543C>G (p.His3515Asp) c.3629C>G c.7824C>G c.4990C>G (p.His1664Asp) c.7869C>G c.10924C>G (p.His3642Asp) c.1078C>G (p.His360Asp) c.2280C>G c.312C>G c.2021C>G c.4415C>G (n.4415C>G) c.10798C>G (p.His3600Asp) n.4727C>G c.10927C>G (p.His3643Asp) | |
2 | g.73572801C>T | CA347286229 | ALMS1 | c.10543C>T (p.His3515Tyr) c.3629C>T c.7824C>T c.4990C>T (p.His1664Tyr) c.7869C>T c.10924C>T (p.His3642Tyr) c.1078C>T (p.His360Tyr) c.2280C>T c.312C>T c.2021C>T c.4415C>T (n.4415C>T) c.10798C>T (p.His3600Tyr) n.4727C>T c.10927C>T (p.His3643Tyr) | |
2 | g.73572802A= | CA1261021949 | ALMS1 | c.10544A= (p.His3515=) c.3630A= c.7825A= c.4991A= (p.His1664=) c.7870A= c.10925A= (p.His3642=) c.1079A= (p.His360=) c.2281A= c.313A= c.2022A= c.4416A= (n.4416A=) c.10799A= (p.His3600=) n.4728A= c.10928A= (p.His3643=) | |
2 | g.73572802A>C | CA347286236 | ALMS1 | c.10544A>C (p.His3515Pro) c.3630A>C c.7825A>C c.4991A>C (p.His1664Pro) c.7870A>C c.10925A>C (p.His3642Pro) c.1079A>C (p.His360Pro) c.2281A>C c.313A>C c.2022A>C c.4416A>C (n.4416A>C) c.10799A>C (p.His3600Pro) n.4728A>C c.10928A>C (p.His3643Pro) | |
2 | g.73572802A>G | CA347286238 | ALMS1 | c.10544A>G (p.His3515Arg) c.3630A>G c.7825A>G c.4991A>G (p.His1664Arg) c.7870A>G c.10925A>G (p.His3642Arg) c.1079A>G (p.His360Arg) c.2281A>G c.313A>G c.2022A>G c.4416A>G (n.4416A>G) c.10799A>G (p.His3600Arg) n.4728A>G c.10928A>G (p.His3643Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.73572802A>T | CA347286241 | ALMS1 | c.10544A>T (p.His3515Leu) c.3630A>T c.7825A>T c.4991A>T (p.His1664Leu) c.7870A>T c.10925A>T (p.His3642Leu) c.1079A>T (p.His360Leu) c.2281A>T c.313A>T c.2022A>T c.4416A>T (n.4416A>T) c.10799A>T (p.His3600Leu) n.4728A>T c.10928A>T (p.His3643Leu) | |
2 | g.73572803T>A | CA347286246 | ALMS1 | c.10545T>A (p.His3515Gln) c.3631T>A c.7826T>A c.4992T>A (p.His1664Gln) c.7871T>A c.10926T>A (p.His3642Gln) c.1080T>A (p.His360Gln) c.2282T>A c.314T>A c.2023T>A c.4417T>A (n.4417T>A) c.10800T>A (p.His3600Gln) n.4729T>A c.10929T>A (p.His3643Gln) | |
2 | g.73572803T>C | CA427024110 | ALMS1 | c.10545T>C (p.His3515=) c.3631T>C c.7826T>C c.4992T>C (p.His1664=) c.7871T>C c.10926T>C (p.His3642=) c.1080T>C (p.His360=) c.2282T>C c.314T>C c.2023T>C c.4417T>C (n.4417T>C) c.10800T>C (p.His3600=) n.4729T>C c.10929T>C (p.His3643=) | |
2 | g.73572803T>G | CA347286249 | ALMS1 | c.10545T>G (p.His3515Gln) c.3631T>G c.7826T>G c.4992T>G (p.His1664Gln) c.7871T>G c.10926T>G (p.His3642Gln) c.1080T>G (p.His360Gln) c.2282T>G c.314T>G c.2023T>G c.4417T>G (n.4417T>G) c.10800T>G (p.His3600Gln) n.4729T>G c.10929T>G (p.His3643Gln) | |
2 | g.73572804T>A | CA347286253 | ALMS1 | c.10546T>A (p.Ser3516Thr) c.3632T>A c.7827T>A c.4993T>A (p.Ser1665Thr) c.7872T>A c.10927T>A (p.Ser3643Thr) c.1081T>A (p.Ser361Thr) c.2283T>A c.315T>A c.2024T>A c.4418T>A (n.4418T>A) c.10801T>A (p.Ser3601Thr) n.4730T>A c.10930T>A (p.Ser3644Thr) | |
2 | g.73572804T>C | CA347286256 | ALMS1 | c.10546T>C (p.Ser3516Pro) c.3632T>C c.7827T>C c.4993T>C (p.Ser1665Pro) c.7872T>C c.10927T>C (p.Ser3643Pro) c.1081T>C (p.Ser361Pro) c.2283T>C c.315T>C c.2024T>C c.4418T>C (n.4418T>C) c.10801T>C (p.Ser3601Pro) n.4730T>C c.10930T>C (p.Ser3644Pro) | gnomAD v4 |
2 | g.73572804T>G | CA347286259 | ALMS1 | c.10546T>G (p.Ser3516Ala) c.3632T>G c.7827T>G c.4993T>G (p.Ser1665Ala) c.7872T>G c.10927T>G (p.Ser3643Ala) c.1081T>G (p.Ser361Ala) c.2283T>G c.315T>G c.2024T>G c.4418T>G (n.4418T>G) c.10801T>G (p.Ser3601Ala) n.4730T>G c.10930T>G (p.Ser3644Ala) | |
2 | g.73572805C>A | CA50386546 | ALMS1 | c.10547C>A (p.Ser3516Tyr) c.3633C>A c.7828C>A c.4994C>A (p.Ser1665Tyr) c.7873C>A c.10928C>A (p.Ser3643Tyr) c.1082C>A (p.Ser361Tyr) c.2284C>A c.316C>A c.2025C>A c.4419C>A (n.4419C>A) c.10802C>A (p.Ser3601Tyr) n.4731C>A c.10931C>A (p.Ser3644Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572805C= | CA1261021953 | ALMS1 | c.10547C= (p.Ser3516=) c.3633C= c.7828C= c.4994C= (p.Ser1665=) c.7873C= c.10928C= (p.Ser3643=) c.1082C= (p.Ser361=) c.2284C= c.316C= c.2025C= c.4419C= (n.4419C=) c.10802C= (p.Ser3601=) n.4731C= c.10931C= (p.Ser3644=) | |
2 | g.73572805C>G | CA347286263 | ALMS1 | c.10547C>G (p.Ser3516Cys) c.3633C>G c.7828C>G c.4994C>G (p.Ser1665Cys) c.7873C>G c.10928C>G (p.Ser3643Cys) c.1082C>G (p.Ser361Cys) c.2284C>G c.316C>G c.2025C>G c.4419C>G (n.4419C>G) c.10802C>G (p.Ser3601Cys) n.4731C>G c.10931C>G (p.Ser3644Cys) | ClinVar dbSNP gnomAD v4 |
2 | g.73572805C>T | CA347286265 | ALMS1 | c.10547C>T (p.Ser3516Phe) c.3633C>T c.7828C>T c.4994C>T (p.Ser1665Phe) c.7873C>T c.10928C>T (p.Ser3643Phe) c.1082C>T (p.Ser361Phe) c.2284C>T c.316C>T c.2025C>T c.4419C>T (n.4419C>T) c.10802C>T (p.Ser3601Phe) n.4731C>T c.10931C>T (p.Ser3644Phe) | |
2 | g.73572806T>A | CA427024117 | ALMS1 | c.10548T>A (p.Ser3516=) c.3634T>A c.7829T>A c.4995T>A (p.Ser1665=) c.7874T>A c.10929T>A (p.Ser3643=) c.1083T>A (p.Ser361=) c.2285T>A c.317T>A c.2026T>A c.4420T>A (n.4420T>A) c.10803T>A (p.Ser3601=) n.4732T>A c.10932T>A (p.Ser3644=) | |
2 | g.73572806T>C | CA427024118 | ALMS1 | c.10548T>C (p.Ser3516=) c.3634T>C c.7829T>C c.4995T>C (p.Ser1665=) c.7874T>C c.10929T>C (p.Ser3643=) c.1083T>C (p.Ser361=) c.2285T>C c.317T>C c.2026T>C c.4420T>C (n.4420T>C) c.10803T>C (p.Ser3601=) n.4732T>C c.10932T>C (p.Ser3644=) | ClinVar dbSNP gnomAD v4 |
2 | g.73572806T>G | CA427024119 | ALMS1 | c.10548T>G (p.Ser3516=) c.3634T>G c.7829T>G c.4995T>G (p.Ser1665=) c.7874T>G c.10929T>G (p.Ser3643=) c.1083T>G (p.Ser361=) c.2285T>G c.317T>G c.2026T>G c.4420T>G (n.4420T>G) c.10803T>G (p.Ser3601=) n.4732T>G c.10932T>G (p.Ser3644=) | |
2 | g.73572806T= | CA1261021957 | ALMS1 | c.10548T= (p.Ser3516=) c.3634T= c.7829T= c.4995T= (p.Ser1665=) c.7874T= c.10929T= (p.Ser3643=) c.1083T= (p.Ser361=) c.2285T= c.317T= c.2026T= c.4420T= (n.4420T=) c.10803T= (p.Ser3601=) n.4732T= c.10932T= (p.Ser3644=) | |
2 | g.73572807C>A | CA347286269 | ALMS1 | c.10549C>A (p.Leu3517Ile) c.3635C>A c.7830C>A c.4996C>A (p.Leu1666Ile) c.7875C>A c.10930C>A (p.Leu3644Ile) c.1084C>A (p.Leu362Ile) c.2286C>A c.318C>A c.2027C>A c.4421C>A (n.4421C>A) c.10804C>A (p.Leu3602Ile) n.4733C>A c.10933C>A (p.Leu3645Ile) | |
2 | g.73572807C= | CA1261021964 | ALMS1 | c.10549C= (p.Leu3517=) c.3635C= c.7830C= c.4996C= (p.Leu1666=) c.7875C= c.10930C= (p.Leu3644=) c.1084C= (p.Leu362=) c.2286C= c.318C= c.2027C= c.4421C= (n.4421C=) c.10804C= (p.Leu3602=) n.4733C= c.10933C= (p.Leu3645=) | |
2 | g.73572807C>G | CA16611225 | ALMS1 | c.10549C>G (p.Leu3517Val) c.3635C>G c.7830C>G c.4996C>G (p.Leu1666Val) c.7875C>G c.10930C>G (p.Leu3644Val) c.1084C>G (p.Leu362Val) c.2286C>G c.318C>G c.2027C>G c.4421C>G (n.4421C>G) c.10804C>G (p.Leu3602Val) n.4733C>G c.10933C>G (p.Leu3645Val) | ClinVar dbSNP |
2 | g.73572807C>T | CA347286267 | ALMS1 | c.10549C>T (p.Leu3517Phe) c.3635C>T c.7830C>T c.4996C>T (p.Leu1666Phe) c.7875C>T c.10930C>T (p.Leu3644Phe) c.1084C>T (p.Leu362Phe) c.2286C>T c.318C>T c.2027C>T c.4421C>T (n.4421C>T) c.10804C>T (p.Leu3602Phe) n.4733C>T c.10933C>T (p.Leu3645Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572808T>A | CA347286271 | ALMS1 | c.10550T>A (p.Leu3517His) c.3636T>A c.7831T>A c.4997T>A (p.Leu1666His) c.7876T>A c.10931T>A (p.Leu3644His) c.1085T>A (p.Leu362His) c.2287T>A c.319T>A c.2028T>A c.4422T>A (n.4422T>A) c.10805T>A (p.Leu3602His) n.4734T>A c.10934T>A (p.Leu3645His) | |
2 | g.73572808T>C | CA347286272 | ALMS1 | c.10550T>C (p.Leu3517Pro) c.3636T>C c.7831T>C c.4997T>C (p.Leu1666Pro) c.7876T>C c.10931T>C (p.Leu3644Pro) c.1085T>C (p.Leu362Pro) c.2287T>C c.319T>C c.2028T>C c.4422T>C (n.4422T>C) c.10805T>C (p.Leu3602Pro) n.4734T>C c.10934T>C (p.Leu3645Pro) | |
2 | g.73572808T>G | CA347286274 | ALMS1 | c.10550T>G (p.Leu3517Arg) c.3636T>G c.7831T>G c.4997T>G (p.Leu1666Arg) c.7876T>G c.10931T>G (p.Leu3644Arg) c.1085T>G (p.Leu362Arg) c.2287T>G c.319T>G c.2028T>G c.4422T>G (n.4422T>G) c.10805T>G (p.Leu3602Arg) n.4734T>G c.10934T>G (p.Leu3645Arg) | |
2 | g.73572808dup | CA2659617242 | ALMS1 | c.10550dup (p.Gln3518ProfsTer8) c.3636dup c.7831dup c.4997dup (p.Gln1667ProfsTer8) c.7876dup c.10931dup (p.Gln3645ProfsTer8) c.1085dup (p.Gln363ProfsTer8) c.2287dup c.319dup c.2028dup c.4422dup (n.4422dup) c.10805dup (p.Gln3603ProfsTer8) n.4734dup c.10934dup (p.Gln3646ProfsTer8) | gnomAD v4 |
2 | g.73572809C>A | CA427024122 | ALMS1 | c.10551C>A (p.Leu3517=) c.3637C>A c.7832C>A c.4998C>A (p.Leu1666=) c.7877C>A c.10932C>A (p.Leu3644=) c.1086C>A (p.Leu362=) c.2288C>A c.320C>A c.2029C>A c.4423C>A (n.4423C>A) c.10806C>A (p.Leu3602=) n.4735C>A c.10935C>A (p.Leu3645=) | ClinVar dbSNP |
2 | g.73572809C= | CA1261021966 | ALMS1 | c.10551C= (p.Leu3517=) c.3637C= c.7832C= c.4998C= (p.Leu1666=) c.7877C= c.10932C= (p.Leu3644=) c.1086C= (p.Leu362=) c.2288C= c.320C= c.2029C= c.4423C= (n.4423C=) c.10806C= (p.Leu3602=) n.4735C= c.10935C= (p.Leu3645=) | |
2 | g.73572809C>G | CA427024123 | ALMS1 | c.10551C>G (p.Leu3517=) c.3637C>G c.7832C>G c.4998C>G (p.Leu1666=) c.7877C>G c.10932C>G (p.Leu3644=) c.1086C>G (p.Leu362=) c.2288C>G c.320C>G c.2029C>G c.4423C>G (n.4423C>G) c.10806C>G (p.Leu3602=) n.4735C>G c.10935C>G (p.Leu3645=) | |
2 | g.73572809C>T | CA427024124 | ALMS1 | c.10551C>T (p.Leu3517=) c.3637C>T c.7832C>T c.4998C>T (p.Leu1666=) c.7877C>T c.10932C>T (p.Leu3644=) c.1086C>T (p.Leu362=) c.2288C>T c.320C>T c.2029C>T c.4423C>T (n.4423C>T) c.10806C>T (p.Leu3602=) n.4735C>T c.10935C>T (p.Leu3645=) | |
2 | g.73572810C>A | CA347286277 | ALMS1 | c.10552C>A (p.Gln3518Lys) c.3638C>A c.7833C>A c.4999C>A (p.Gln1667Lys) c.7878C>A c.10933C>A (p.Gln3645Lys) c.1087C>A (p.Gln363Lys) c.2289C>A c.321C>A c.2030C>A c.4424C>A (n.4424C>A) c.10807C>A (p.Gln3603Lys) n.4736C>A c.10936C>A (p.Gln3646Lys) | |
2 | g.73572810C= | CA1261021970 | ALMS1 | c.10552C= (p.Gln3518=) c.3638C= c.7833C= c.4999C= (p.Gln1667=) c.7878C= c.10933C= (p.Gln3645=) c.1087C= (p.Gln363=) c.2289C= c.321C= c.2030C= c.4424C= (n.4424C=) c.10807C= (p.Gln3603=) n.4736C= c.10936C= (p.Gln3646=) | |
2 | g.73572810C>G | CA347286278 | ALMS1 | c.10552C>G (p.Gln3518Glu) c.3638C>G c.7833C>G c.4999C>G (p.Gln1667Glu) c.7878C>G c.10933C>G (p.Gln3645Glu) c.1087C>G (p.Gln363Glu) c.2289C>G c.321C>G c.2030C>G c.4424C>G (n.4424C>G) c.10807C>G (p.Gln3603Glu) n.4736C>G c.10936C>G (p.Gln3646Glu) | |
2 | g.73572810C>T | CA347286279 | ALMS1 | c.10552C>T (p.Gln3518Ter) c.3638C>T c.7833C>T c.4999C>T (p.Gln1667Ter) c.7878C>T c.10933C>T (p.Gln3645Ter) c.1087C>T (p.Gln363Ter) c.2289C>T c.321C>T c.2030C>T c.4424C>T (n.4424C>T) c.10807C>T (p.Gln3603Ter) n.4736C>T c.10936C>T (p.Gln3646Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.73572813_73572819del | CA2586964958 | ALMS1 | c.10555_10561del (p.Val3519LysfsTer13) c.3641_3647del c.7836_7842del c.5002_5008del (p.Val1668LysfsTer13) c.7881_7887del c.10936_10942del (p.Val3646LysfsTer13) c.1090_1096del (p.Val364LysfsTer13) c.2292_2298del c.324_330del c.2033_2039del c.4427_4433del (n.4427_4433del) c.10810_10816del (p.Val3604LysfsTer13) n.4739_4745del c.10939_10945del (p.Val3647LysfsTer13) | |
2 | g.73572811A>C | CA347286281 | ALMS1 | c.10553A>C (p.Gln3518Pro) c.3639A>C c.7834A>C c.5000A>C (p.Gln1667Pro) c.7879A>C c.10934A>C (p.Gln3645Pro) c.1088A>C (p.Gln363Pro) c.2290A>C c.322A>C c.2031A>C c.4425A>C (n.4425A>C) c.10808A>C (p.Gln3603Pro) n.4737A>C c.10937A>C (p.Gln3646Pro) | |
2 | g.73572811A>G | CA347286282 | ALMS1 | c.10553A>G (p.Gln3518Arg) c.3639A>G c.7834A>G c.5000A>G (p.Gln1667Arg) c.7879A>G c.10934A>G (p.Gln3645Arg) c.1088A>G (p.Gln363Arg) c.2290A>G c.322A>G c.2031A>G c.4425A>G (n.4425A>G) c.10808A>G (p.Gln3603Arg) n.4737A>G c.10937A>G (p.Gln3646Arg) | |
2 | g.73572811A>T | CA347286283 | ALMS1 | c.10553A>T (p.Gln3518Leu) c.3639A>T c.7834A>T c.5000A>T (p.Gln1667Leu) c.7879A>T c.10934A>T (p.Gln3645Leu) c.1088A>T (p.Gln363Leu) c.2290A>T c.322A>T c.2031A>T c.4425A>T (n.4425A>T) c.10808A>T (p.Gln3603Leu) n.4737A>T c.10937A>T (p.Gln3646Leu) | |
2 | g.73572812G>A | CA427024129 | ALMS1 | c.10554G>A (p.Gln3518=) c.3640G>A c.7835G>A c.5001G>A (p.Gln1667=) c.7880G>A c.10935G>A (p.Gln3645=) c.1089G>A (p.Gln363=) c.2291G>A c.323G>A c.2032G>A c.4426G>A (n.4426G>A) c.10809G>A (p.Gln3603=) n.4738G>A c.10938G>A (p.Gln3646=) | |
2 | g.73572812G>C | CA347286286 | ALMS1 | c.10554G>C (p.Gln3518His) c.3640G>C c.7835G>C c.5001G>C (p.Gln1667His) c.7880G>C c.10935G>C (p.Gln3645His) c.1089G>C (p.Gln363His) c.2291G>C c.323G>C c.2032G>C c.4426G>C (n.4426G>C) c.10809G>C (p.Gln3603His) n.4738G>C c.10938G>C (p.Gln3646His) | gnomAD v4 |
2 | g.73572812G>T | CA347286288 | ALMS1 | c.10554G>T (p.Gln3518His) c.3640G>T c.7835G>T c.5001G>T (p.Gln1667His) c.7880G>T c.10935G>T (p.Gln3645His) c.1089G>T (p.Gln363His) c.2291G>T c.323G>T c.2032G>T c.4426G>T (n.4426G>T) c.10809G>T (p.Gln3603His) n.4738G>T c.10938G>T (p.Gln3646His) | |
2 | g.73572813G>A | CA347286297 | ALMS1 | c.10555G>A (p.Val3519Ile) c.3641G>A c.7836G>A c.5002G>A (p.Val1668Ile) c.7881G>A c.10936G>A (p.Val3646Ile) c.1090G>A (p.Val364Ile) c.2292G>A c.324G>A c.2033G>A c.4427G>A (n.4427G>A) c.10810G>A (p.Val3604Ile) n.4739G>A c.10939G>A (p.Val3647Ile) | |
2 | g.73572813G>C | CA347286295 | ALMS1 | c.10555G>C (p.Val3519Leu) c.3641G>C c.7836G>C c.5002G>C (p.Val1668Leu) c.7881G>C c.10936G>C (p.Val3646Leu) c.1090G>C (p.Val364Leu) c.2292G>C c.324G>C c.2033G>C c.4427G>C (n.4427G>C) c.10810G>C (p.Val3604Leu) n.4739G>C c.10939G>C (p.Val3647Leu) | |
2 | g.73572813G>T | CA347286292 | ALMS1 | c.10555G>T (p.Val3519Phe) c.3641G>T c.7836G>T c.5002G>T (p.Val1668Phe) c.7881G>T c.10936G>T (p.Val3646Phe) c.1090G>T (p.Val364Phe) c.2292G>T c.324G>T c.2033G>T c.4427G>T (n.4427G>T) c.10810G>T (p.Val3604Phe) n.4739G>T c.10939G>T (p.Val3647Phe) | |
2 | g.73572814T>A | CA347286302 | ALMS1 | c.10556T>A (p.Val3519Asp) c.3642T>A c.7837T>A c.5003T>A (p.Val1668Asp) c.7882T>A c.10937T>A (p.Val3646Asp) c.1091T>A (p.Val364Asp) c.2293T>A c.325T>A c.2034T>A c.4428T>A (n.4428T>A) c.10811T>A (p.Val3604Asp) n.4740T>A c.10940T>A (p.Val3647Asp) | |
2 | g.73572814T>C | CA347286307 | ALMS1 | c.10556T>C (p.Val3519Ala) c.3642T>C c.7837T>C c.5003T>C (p.Val1668Ala) c.7882T>C c.10937T>C (p.Val3646Ala) c.1091T>C (p.Val364Ala) c.2293T>C c.325T>C c.2034T>C c.4428T>C (n.4428T>C) c.10811T>C (p.Val3604Ala) n.4740T>C c.10940T>C (p.Val3647Ala) | gnomAD v4 |
2 | g.73572814T>G | CA347286305 | ALMS1 | c.10556T>G (p.Val3519Gly) c.3642T>G c.7837T>G c.5003T>G (p.Val1668Gly) c.7882T>G c.10937T>G (p.Val3646Gly) c.1091T>G (p.Val364Gly) c.2293T>G c.325T>G c.2034T>G c.4428T>G (n.4428T>G) c.10811T>G (p.Val3604Gly) n.4740T>G c.10940T>G (p.Val3647Gly) | |
2 | g.73572815C>A | CA427024141 | ALMS1 | c.10557C>A (p.Val3519=) c.3643C>A c.7838C>A c.5004C>A (p.Val1668=) c.7883C>A c.10938C>A (p.Val3646=) c.1092C>A (p.Val364=) c.2294C>A c.326C>A c.2035C>A c.4429C>A (n.4429C>A) c.10812C>A (p.Val3604=) n.4741C>A c.10941C>A (p.Val3647=) | dbSNP gnomAD v2 |
2 | g.73572815C= | CA1261021974 | ALMS1 | c.10557C= (p.Val3519=) c.3643C= c.7838C= c.5004C= (p.Val1668=) c.7883C= c.10938C= (p.Val3646=) c.1092C= (p.Val364=) c.2294C= c.326C= c.2035C= c.4429C= (n.4429C=) c.10812C= (p.Val3604=) n.4741C= c.10941C= (p.Val3647=) | |
2 | g.73572815C>G | CA427024139 | ALMS1 | c.10557C>G (p.Val3519=) c.3643C>G c.7838C>G c.5004C>G (p.Val1668=) c.7883C>G c.10938C>G (p.Val3646=) c.1092C>G (p.Val364=) c.2294C>G c.326C>G c.2035C>G c.4429C>G (n.4429C>G) c.10812C>G (p.Val3604=) n.4741C>G c.10941C>G (p.Val3647=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73572815C>T | CA427024136 | ALMS1 | c.10557C>T (p.Val3519=) c.3643C>T c.7838C>T c.5004C>T (p.Val1668=) c.7883C>T c.10938C>T (p.Val3646=) c.1092C>T (p.Val364=) c.2294C>T c.326C>T c.2035C>T c.4429C>T (n.4429C>T) c.10812C>T (p.Val3604=) n.4741C>T c.10941C>T (p.Val3647=) | ClinVar |
2 | g.73572816T>A | CA347286312 | ALMS1 | c.10558T>A (p.Ser3520Thr) c.3644T>A c.7839T>A c.5005T>A (p.Ser1669Thr) c.7884T>A c.10939T>A (p.Ser3647Thr) c.1093T>A (p.Ser365Thr) c.2295T>A c.327T>A c.2036T>A c.4430T>A (n.4430T>A) c.10813T>A (p.Ser3605Thr) n.4742T>A c.10942T>A (p.Ser3648Thr) | |
2 | g.73572816T>C | CA347286315 | ALMS1 | c.10558T>C (p.Ser3520Pro) c.3644T>C c.7839T>C c.5005T>C (p.Ser1669Pro) c.7884T>C c.10939T>C (p.Ser3647Pro) c.1093T>C (p.Ser365Pro) c.2295T>C c.327T>C c.2036T>C c.4430T>C (n.4430T>C) c.10813T>C (p.Ser3605Pro) n.4742T>C c.10942T>C (p.Ser3648Pro) | |
2 | g.73572816T>G | CA347286317 | ALMS1 | c.10558T>G (p.Ser3520Ala) c.3644T>G c.7839T>G c.5005T>G (p.Ser1669Ala) c.7884T>G c.10939T>G (p.Ser3647Ala) c.1093T>G (p.Ser365Ala) c.2295T>G c.327T>G c.2036T>G c.4430T>G (n.4430T>G) c.10813T>G (p.Ser3605Ala) n.4742T>G c.10942T>G (p.Ser3648Ala) | |
2 | g.73572817C>A | CA347286320 | ALMS1 | c.10559C>A (p.Ser3520Ter) c.3645C>A c.7840C>A c.5006C>A (p.Ser1669Ter) c.7885C>A c.10940C>A (p.Ser3647Ter) c.1094C>A (p.Ser365Ter) c.2296C>A c.328C>A c.2037C>A c.4431C>A (n.4431C>A) c.10814C>A (p.Ser3605Ter) n.4743C>A c.10943C>A (p.Ser3648Ter) | |
2 | g.73572817C>G | CA347286322 | ALMS1 | c.10559C>G (p.Ser3520Ter) c.3645C>G c.7840C>G c.5006C>G (p.Ser1669Ter) c.7885C>G c.10940C>G (p.Ser3647Ter) c.1094C>G (p.Ser365Ter) c.2296C>G c.328C>G c.2037C>G c.4431C>G (n.4431C>G) c.10814C>G (p.Ser3605Ter) n.4743C>G c.10943C>G (p.Ser3648Ter) | |
2 | g.73572817C>T | CA347286325 | ALMS1 | c.10559C>T (p.Ser3520Leu) c.3645C>T c.7840C>T c.5006C>T (p.Ser1669Leu) c.7885C>T c.10940C>T (p.Ser3647Leu) c.1094C>T (p.Ser365Leu) c.2296C>T c.328C>T c.2037C>T c.4431C>T (n.4431C>T) c.10814C>T (p.Ser3605Leu) n.4743C>T c.10943C>T (p.Ser3648Leu) | |
2 | g.73572818A>C | CA427024143 | ALMS1 | c.10560A>C (p.Ser3520=) c.3646A>C c.7841A>C c.5007A>C (p.Ser1669=) c.7886A>C c.10941A>C (p.Ser3647=) c.1095A>C (p.Ser365=) c.2297A>C c.329A>C c.2038A>C c.4432A>C (n.4432A>C) c.10815A>C (p.Ser3605=) n.4744A>C c.10944A>C (p.Ser3648=) | |
2 | g.73572818A>G | CA427024144 | ALMS1 | c.10560A>G (p.Ser3520=) c.3646A>G c.7841A>G c.5007A>G (p.Ser1669=) c.7886A>G c.10941A>G (p.Ser3647=) c.1095A>G (p.Ser365=) c.2297A>G c.329A>G c.2038A>G c.4432A>G (n.4432A>G) c.10815A>G (p.Ser3605=) n.4744A>G c.10944A>G (p.Ser3648=) | |
2 | g.73572818A>T | CA427024145 | ALMS1 | c.10560A>T (p.Ser3520=) c.3646A>T c.7841A>T c.5007A>T (p.Ser1669=) c.7886A>T c.10941A>T (p.Ser3647=) c.1095A>T (p.Ser365=) c.2297A>T c.329A>T c.2038A>T c.4432A>T (n.4432A>T) c.10815A>T (p.Ser3605=) n.4744A>T c.10944A>T (p.Ser3648=) | |
2 | g.73572819G>A | CA347286329 | ALMS1 | c.10561G>A (p.Glu3521Lys) c.3647G>A c.7842G>A c.5008G>A (p.Glu1670Lys) c.7887G>A c.10942G>A (p.Glu3648Lys) c.1096G>A (p.Glu366Lys) c.2298G>A c.330G>A c.2039G>A c.4433G>A (n.4433G>A) c.10816G>A (p.Glu3606Lys) n.4745G>A c.10945G>A (p.Glu3649Lys) | ClinVar dbSNP |
2 | g.73572819G>C | CA347286331 | ALMS1 | c.10561G>C (p.Glu3521Gln) c.3647G>C c.7842G>C c.5008G>C (p.Glu1670Gln) c.7887G>C c.10942G>C (p.Glu3648Gln) c.1096G>C (p.Glu366Gln) c.2298G>C c.330G>C c.2039G>C c.4433G>C (n.4433G>C) c.10816G>C (p.Glu3606Gln) n.4745G>C c.10945G>C (p.Glu3649Gln) | |
2 | g.73572819G= | CA1261021982 | ALMS1 | c.10561G= (p.Glu3521=) c.3647G= c.7842G= c.5008G= (p.Glu1670=) c.7887G= c.10942G= (p.Glu3648=) c.1096G= (p.Glu366=) c.2298G= c.330G= c.2039G= c.4433G= (n.4433G=) c.10816G= (p.Glu3606=) n.4745G= c.10945G= (p.Glu3649=) | |
2 | g.73572819G>T | CA261212 | ALMS1 | c.10561G>T (p.Glu3521Ter) c.3647G>T c.7842G>T c.5008G>T (p.Glu1670Ter) c.7887G>T c.10942G>T (p.Glu3648Ter) c.1096G>T (p.Glu366Ter) c.2298G>T c.330G>T c.2039G>T c.4433G>T (n.4433G>T) c.10816G>T (p.Glu3606Ter) n.4745G>T c.10945G>T (p.Glu3649Ter) | ClinVar dbSNP |
2 | g.73572820A>C | CA347286337 | ALMS1 | c.10562A>C (p.Glu3521Ala) c.3648A>C c.7843A>C c.5009A>C (p.Glu1670Ala) c.7888A>C c.10943A>C (p.Glu3648Ala) c.1097A>C (p.Glu366Ala) c.2299A>C c.331A>C c.2040A>C c.4434A>C (n.4434A>C) c.10817A>C (p.Glu3606Ala) n.4746A>C c.10946A>C (p.Glu3649Ala) | |
2 | g.73572820A>G | CA347286340 | ALMS1 | c.10562A>G (p.Glu3521Gly) c.3648A>G c.7843A>G c.5009A>G (p.Glu1670Gly) c.7888A>G c.10943A>G (p.Glu3648Gly) c.1097A>G (p.Glu366Gly) c.2299A>G c.331A>G c.2040A>G c.4434A>G (n.4434A>G) c.10817A>G (p.Glu3606Gly) n.4746A>G c.10946A>G (p.Glu3649Gly) | |
2 | g.73572820A>T | CA347286342 | ALMS1 | c.10562A>T (p.Glu3521Val) c.3648A>T c.7843A>T c.5009A>T (p.Glu1670Val) c.7888A>T c.10943A>T (p.Glu3648Val) c.1097A>T (p.Glu366Val) c.2299A>T c.331A>T c.2040A>T c.4434A>T (n.4434A>T) c.10817A>T (p.Glu3606Val) n.4746A>T c.10946A>T (p.Glu3649Val) | |
2 | g.73572821A>C | CA347286349 | ALMS1 | c.10563A>C (p.Glu3521Asp) c.3649A>C c.7844A>C c.5010A>C (p.Glu1670Asp) c.7889A>C c.10944A>C (p.Glu3648Asp) c.1098A>C (p.Glu366Asp) c.2300A>C c.332A>C c.2041A>C c.4435A>C (n.4435A>C) c.10818A>C (p.Glu3606Asp) n.4747A>C c.10947A>C (p.Glu3649Asp) | |
2 | g.73572821A>G | CA427024150 | ALMS1 | c.10563A>G (p.Glu3521=) c.3649A>G c.7844A>G c.5010A>G (p.Glu1670=) c.7889A>G c.10944A>G (p.Glu3648=) c.1098A>G (p.Glu366=) c.2300A>G c.332A>G c.2041A>G c.4435A>G (n.4435A>G) c.10818A>G (p.Glu3606=) n.4747A>G c.10947A>G (p.Glu3649=) | ClinVar |
2 | g.73572821A>T | CA347286346 | ALMS1 | c.10563A>T (p.Glu3521Asp) c.3649A>T c.7844A>T c.5010A>T (p.Glu1670Asp) c.7889A>T c.10944A>T (p.Glu3648Asp) c.1098A>T (p.Glu366Asp) c.2300A>T c.332A>T c.2041A>T c.4435A>T (n.4435A>T) c.10818A>T (p.Glu3606Asp) n.4747A>T c.10947A>T (p.Glu3649Asp) | |
2 | g.73572822A>C | CA347286352 | ALMS1 | c.10564A>C (p.Ser3522Arg) c.3650A>C c.7845A>C c.5011A>C (p.Ser1671Arg) c.7890A>C c.10945A>C (p.Ser3649Arg) c.1099A>C (p.Ser367Arg) c.2301A>C c.333A>C c.2042A>C c.4436A>C (n.4436A>C) c.10819A>C (p.Ser3607Arg) n.4748A>C c.10948A>C (p.Ser3650Arg) | |
2 | g.73572822A>G | CA347286354 | ALMS1 | c.10564A>G (p.Ser3522Gly) c.3650A>G c.7845A>G c.5011A>G (p.Ser1671Gly) c.7890A>G c.10945A>G (p.Ser3649Gly) c.1099A>G (p.Ser367Gly) c.2301A>G c.333A>G c.2042A>G c.4436A>G (n.4436A>G) c.10819A>G (p.Ser3607Gly) n.4748A>G c.10948A>G (p.Ser3650Gly) | |
2 | g.73572822A>T | CA347286357 | ALMS1 | c.10564A>T (p.Ser3522Cys) c.3650A>T c.7845A>T c.5011A>T (p.Ser1671Cys) c.7890A>T c.10945A>T (p.Ser3649Cys) c.1099A>T (p.Ser367Cys) c.2301A>T c.333A>T c.2042A>T c.4436A>T (n.4436A>T) c.10819A>T (p.Ser3607Cys) n.4748A>T c.10948A>T (p.Ser3650Cys) | |
2 | g.73572823G>A | CA347286361 | ALMS1 | c.10565G>A (p.Ser3522Asn) c.3651G>A c.7846G>A c.5012G>A (p.Ser1671Asn) c.7891G>A c.10946G>A (p.Ser3649Asn) c.1100G>A (p.Ser367Asn) c.2302G>A c.334G>A c.2043G>A c.4437G>A (n.4437G>A) c.10820G>A (p.Ser3607Asn) n.4749G>A c.10949G>A (p.Ser3650Asn) | ClinVar dbSNP |
2 | g.73572823G>C | CA347286364 | ALMS1 | c.10565G>C (p.Ser3522Thr) c.3651G>C c.7846G>C c.5012G>C (p.Ser1671Thr) c.7891G>C c.10946G>C (p.Ser3649Thr) c.1100G>C (p.Ser367Thr) c.2302G>C c.334G>C c.2043G>C c.4437G>C (n.4437G>C) c.10820G>C (p.Ser3607Thr) n.4749G>C c.10949G>C (p.Ser3650Thr) | |
2 | g.73572823G>T | CA347286368 | ALMS1 | c.10565G>T (p.Ser3522Ile) c.3651G>T c.7846G>T c.5012G>T (p.Ser1671Ile) c.7891G>T c.10946G>T (p.Ser3649Ile) c.1100G>T (p.Ser367Ile) c.2302G>T c.334G>T c.2043G>T c.4437G>T (n.4437G>T) c.10820G>T (p.Ser3607Ile) n.4749G>T c.10949G>T (p.Ser3650Ile) | |
2 | g.73572824T>A | CA347286372 | ALMS1 | c.10566T>A (p.Ser3522Arg) c.3652T>A c.7847T>A c.5013T>A (p.Ser1671Arg) c.7892T>A c.10947T>A (p.Ser3649Arg) c.1101T>A (p.Ser367Arg) c.2303T>A c.335T>A c.2044T>A c.4438T>A (n.4438T>A) c.10821T>A (p.Ser3607Arg) n.4750T>A c.10950T>A (p.Ser3650Arg) | |
2 | g.73572824T>C | CA1715091 | ALMS1 | c.10566T>C (p.Ser3522=) c.3652T>C c.7847T>C c.5013T>C (p.Ser1671=) c.7892T>C c.10947T>C (p.Ser3649=) c.1101T>C (p.Ser367=) c.2303T>C c.335T>C c.2044T>C c.4438T>C (n.4438T>C) c.10821T>C (p.Ser3607=) n.4750T>C c.10950T>C (p.Ser3650=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572824T>G | CA347286377 | ALMS1 | c.10566T>G (p.Ser3522Arg) c.3652T>G c.7847T>G c.5013T>G (p.Ser1671Arg) c.7892T>G c.10947T>G (p.Ser3649Arg) c.1101T>G (p.Ser367Arg) c.2303T>G c.335T>G c.2044T>G c.4438T>G (n.4438T>G) c.10821T>G (p.Ser3607Arg) n.4750T>G c.10950T>G (p.Ser3650Arg) | |
2 | g.73572824T= | CA1261021987 | ALMS1 | c.10566T= (p.Ser3522=) c.3652T= c.7847T= c.5013T= (p.Ser1671=) c.7892T= c.10947T= (p.Ser3649=) c.1101T= (p.Ser367=) c.2303T= c.335T= c.2044T= c.4438T= (n.4438T=) c.10821T= (p.Ser3607=) n.4750T= c.10950T= (p.Ser3650=) | |
2 | g.73572824_73572826delinsTAC | CA1261021988 | ALMS1 | c.10566_10568delinsTAC (p.Ser3522=) c.3652_3654delinsTAC c.7847_7849delinsTAC c.5013_5015delinsTAC (p.Ser1671=) c.7892_7894delinsTAC c.10947_10949delinsTAC (p.Ser3649=) c.1101_1103delinsTAC (p.Ser367=) c.2303_2305delinsTAC c.335_337delinsTAC c.2044_2046delinsTAC c.4438_4440delinsTAC (n.4438_4440delinsTAC) c.10821_10823delinsTAC (p.Ser3607=) n.4750_4752delinsTAC c.10950_10952delinsTAC (p.Ser3650=) | |
2 | g.73572825A>C | CA347286381 | ALMS1 | c.10567A>C (p.Thr3523Pro) c.3653A>C c.7848A>C c.5014A>C (p.Thr1672Pro) c.7893A>C c.10948A>C (p.Thr3650Pro) c.1102A>C (p.Thr368Pro) c.2304A>C c.336A>C c.2045A>C c.4439A>C (n.4439A>C) c.10822A>C (p.Thr3608Pro) n.4751A>C c.10951A>C (p.Thr3651Pro) | |
2 | g.73572825A>G | CA347286383 | ALMS1 | c.10567A>G (p.Thr3523Ala) c.3653A>G c.7848A>G c.5014A>G (p.Thr1672Ala) c.7893A>G c.10948A>G (p.Thr3650Ala) c.1102A>G (p.Thr368Ala) c.2304A>G c.336A>G c.2045A>G c.4439A>G (n.4439A>G) c.10822A>G (p.Thr3608Ala) n.4751A>G c.10951A>G (p.Thr3651Ala) | gnomAD v4 |
2 | g.73572825A>T | CA347286386 | ALMS1 | c.10567A>T (p.Thr3523Ser) c.3653A>T c.7848A>T c.5014A>T (p.Thr1672Ser) c.7893A>T c.10948A>T (p.Thr3650Ser) c.1102A>T (p.Thr368Ser) c.2304A>T c.336A>T c.2045A>T c.4439A>T (n.4439A>T) c.10822A>T (p.Thr3608Ser) n.4751A>T c.10951A>T (p.Thr3651Ser) | |
2 | g.73572828_73572829del | CA534123608 | ALMS1 | c.10570_10571del (p.His3524Ter) c.3656_3657del c.7851_7852del c.5017_5018del (p.His1673Ter) c.7896_7897del c.10951_10952del (p.His3651Ter) c.1105_1106del (p.His369Ter) c.2307_2308del c.339_340del c.2048_2049del c.4442_4443del (n.4442_4443del) c.10825_10826del (p.His3609Ter) n.4754_4755del c.10954_10955del (p.His3652Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572826C>A | CA347286397 | ALMS1 | c.10568C>A (p.Thr3523Lys) c.3654C>A c.7849C>A c.5015C>A (p.Thr1672Lys) c.7894C>A c.10949C>A (p.Thr3650Lys) c.1103C>A (p.Thr368Lys) c.2305C>A c.337C>A c.2046C>A c.4440C>A (n.4440C>A) c.10823C>A (p.Thr3608Lys) n.4752C>A c.10952C>A (p.Thr3651Lys) | |
2 | g.73572826C>G | CA347286394 | ALMS1 | c.10568C>G (p.Thr3523Arg) c.3654C>G c.7849C>G c.5015C>G (p.Thr1672Arg) c.7894C>G c.10949C>G (p.Thr3650Arg) c.1103C>G (p.Thr368Arg) c.2305C>G c.337C>G c.2046C>G c.4440C>G (n.4440C>G) c.10823C>G (p.Thr3608Arg) n.4752C>G c.10952C>G (p.Thr3651Arg) | |
2 | g.73572826C>T | CA347286391 | ALMS1 | c.10568C>T (p.Thr3523Ile) c.3654C>T c.7849C>T c.5015C>T (p.Thr1672Ile) c.7894C>T c.10949C>T (p.Thr3650Ile) c.1103C>T (p.Thr368Ile) c.2305C>T c.337C>T c.2046C>T c.4440C>T (n.4440C>T) c.10823C>T (p.Thr3608Ile) n.4752C>T c.10952C>T (p.Thr3651Ile) | |
2 | g.73572827A= | CA1261021994 | ALMS1 | c.10569A= (p.Thr3523=) c.3655A= c.7850A= c.5016A= (p.Thr1672=) c.7895A= c.10950A= (p.Thr3650=) c.1104A= (p.Thr368=) c.2306A= c.338A= c.2047A= c.4441A= (n.4441A=) c.10824A= (p.Thr3608=) n.4753A= c.10953A= (p.Thr3651=) | |
2 | g.73572827A>C | CA427024156 | ALMS1 | c.10569A>C (p.Thr3523=) c.3655A>C c.7850A>C c.5016A>C (p.Thr1672=) c.7895A>C c.10950A>C (p.Thr3650=) c.1104A>C (p.Thr368=) c.2306A>C c.338A>C c.2047A>C c.4441A>C (n.4441A>C) c.10824A>C (p.Thr3608=) n.4753A>C c.10953A>C (p.Thr3651=) | |
2 | g.73572827A>G | CA427024158 | ALMS1 | c.10569A>G (p.Thr3523=) c.3655A>G c.7850A>G c.5016A>G (p.Thr1672=) c.7895A>G c.10950A>G (p.Thr3650=) c.1104A>G (p.Thr368=) c.2306A>G c.338A>G c.2047A>G c.4441A>G (n.4441A>G) c.10824A>G (p.Thr3608=) n.4753A>G c.10953A>G (p.Thr3651=) | ClinVar dbSNP gnomAD v4 |
2 | g.73572827A>T | CA427024157 | ALMS1 | c.10569A>T (p.Thr3523=) c.3655A>T c.7850A>T c.5016A>T (p.Thr1672=) c.7895A>T c.10950A>T (p.Thr3650=) c.1104A>T (p.Thr368=) c.2306A>T c.338A>T c.2047A>T c.4441A>T (n.4441A>T) c.10824A>T (p.Thr3608=) n.4753A>T c.10953A>T (p.Thr3651=) | |
2 | g.73572828C>A | CA347286401 | ALMS1 | c.10570C>A (p.His3524Asn) c.3656C>A c.7851C>A c.5017C>A (p.His1673Asn) c.7896C>A c.10951C>A (p.His3651Asn) c.1105C>A (p.His369Asn) c.2307C>A c.339C>A c.2048C>A c.4442C>A (n.4442C>A) c.10825C>A (p.His3609Asn) n.4754C>A c.10954C>A (p.His3652Asn) | |
2 | g.73572828C= | CA1261021996 | ALMS1 | c.10570C= (p.His3524=) c.3656C= c.7851C= c.5017C= (p.His1673=) c.7896C= c.10951C= (p.His3651=) c.1105C= (p.His369=) c.2307C= c.339C= c.2048C= c.4442C= (n.4442C=) c.10825C= (p.His3609=) n.4754C= c.10954C= (p.His3652=) | |
2 | g.73572828C>G | CA347286403 | ALMS1 | c.10570C>G (p.His3524Asp) c.3656C>G c.7851C>G c.5017C>G (p.His1673Asp) c.7896C>G c.10951C>G (p.His3651Asp) c.1105C>G (p.His369Asp) c.2307C>G c.339C>G c.2048C>G c.4442C>G (n.4442C>G) c.10825C>G (p.His3609Asp) n.4754C>G c.10954C>G (p.His3652Asp) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73572828C>T | CA1715092 | ALMS1 | c.10570C>T (p.His3524Tyr) c.3656C>T c.7851C>T c.5017C>T (p.His1673Tyr) c.7896C>T c.10951C>T (p.His3651Tyr) c.1105C>T (p.His369Tyr) c.2307C>T c.339C>T c.2048C>T c.4442C>T (n.4442C>T) c.10825C>T (p.His3609Tyr) n.4754C>T c.10954C>T (p.His3652Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572829A= | CA1261021998 | ALMS1 | c.10571A= (p.His3524=) c.3657A= c.7852A= c.5018A= (p.His1673=) c.7897A= c.10952A= (p.His3651=) c.1106A= (p.His369=) c.2308A= c.340A= c.2049A= c.4443A= (n.4443A=) c.10826A= (p.His3609=) n.4755A= c.10955A= (p.His3652=) | |
2 | g.73572829A>C | CA347286409 | ALMS1 | c.10571A>C (p.His3524Pro) c.3657A>C c.7852A>C c.5018A>C (p.His1673Pro) c.7897A>C c.10952A>C (p.His3651Pro) c.1106A>C (p.His369Pro) c.2308A>C c.340A>C c.2049A>C c.4443A>C (n.4443A>C) c.10826A>C (p.His3609Pro) n.4755A>C c.10955A>C (p.His3652Pro) | |
2 | g.73572829A>G | CA347286412 | ALMS1 | c.10571A>G (p.His3524Arg) c.3657A>G c.7852A>G c.5018A>G (p.His1673Arg) c.7897A>G c.10952A>G (p.His3651Arg) c.1106A>G (p.His369Arg) c.2308A>G c.340A>G c.2049A>G c.4443A>G (n.4443A>G) c.10826A>G (p.His3609Arg) n.4755A>G c.10955A>G (p.His3652Arg) | ClinVar dbSNP |
2 | g.73572829A>T | CA347286415 | ALMS1 | c.10571A>T (p.His3524Leu) c.3657A>T c.7852A>T c.5018A>T (p.His1673Leu) c.7897A>T c.10952A>T (p.His3651Leu) c.1106A>T (p.His369Leu) c.2308A>T c.340A>T c.2049A>T c.4443A>T (n.4443A>T) c.10826A>T (p.His3609Leu) n.4755A>T c.10955A>T (p.His3652Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.73572829_73572830del | CA2750467829 | ALMS1 | c.10571_10572del (p.His3524ArgfsTer2) c.3657_3658del c.7852_7853del c.5018_5019del (p.His1673ArgfsTer2) c.7897_7898del c.10952_10953del (p.His3651ArgfsTer2) c.1106_1107del (p.His369ArgfsTer2) c.2308_2309del c.340_341del c.2049_2050del c.4443_4444del (n.4443_4444del) c.10826_10827del (p.His3609ArgfsTer2) n.4755_4756del c.10955_10956del (p.His3652ArgfsTer2) | |
2 | g.73572834_73572836del | CA2659617248 | ALMS1 | c.10576_10578del (p.Asp3526del) c.3662_3664del c.7857_7859del c.5023_5025del (p.Asp1675del) c.7902_7904del c.10957_10959del (p.Asp3653del) c.1111_1113del (p.Asp371del) c.2313_2315del c.345_347del c.2054_2056del c.4448_4450del (n.4448_4450del) c.10831_10833del (p.Asp3611del) n.4760_4762del c.10960_10962del (p.Asp3654del) | gnomAD v4 |
2 | g.73572830T>A | CA347286417 | ALMS1 | c.10572T>A (p.His3524Gln) c.3658T>A c.7853T>A c.5019T>A (p.His1673Gln) c.7898T>A c.10953T>A (p.His3651Gln) c.1107T>A (p.His369Gln) c.2309T>A c.341T>A c.2050T>A c.4444T>A (n.4444T>A) c.10827T>A (p.His3609Gln) n.4756T>A c.10956T>A (p.His3652Gln) | gnomAD v4 |
2 | g.73572830T>C | CA427024166 | ALMS1 | c.10572T>C (p.His3524=) c.3658T>C c.7853T>C c.5019T>C (p.His1673=) c.7898T>C c.10953T>C (p.His3651=) c.1107T>C (p.His369=) c.2309T>C c.341T>C c.2050T>C c.4444T>C (n.4444T>C) c.10827T>C (p.His3609=) n.4756T>C c.10956T>C (p.His3652=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.73572830T>G | CA347286420 | ALMS1 | c.10572T>G (p.His3524Gln) c.3658T>G c.7853T>G c.5019T>G (p.His1673Gln) c.7898T>G c.10953T>G (p.His3651Gln) c.1107T>G (p.His369Gln) c.2309T>G c.341T>G c.2050T>G c.4444T>G (n.4444T>G) c.10827T>G (p.His3609Gln) n.4756T>G c.10956T>G (p.His3652Gln) | |
2 | g.73572830T= | CA1261022001 | ALMS1 | c.10572T= (p.His3524=) c.3658T= c.7853T= c.5019T= (p.His1673=) c.7898T= c.10953T= (p.His3651=) c.1107T= (p.His369=) c.2309T= c.341T= c.2050T= c.4444T= (n.4444T=) c.10827T= (p.His3609=) n.4756T= c.10956T= (p.His3652=) | |
2 | g.73572831G>A | CA347286424 | ALMS1 | c.10573G>A (p.Asp3525Asn) c.3659G>A c.7854G>A c.5020G>A (p.Asp1674Asn) c.7899G>A c.10954G>A (p.Asp3652Asn) c.1108G>A (p.Asp370Asn) c.2310G>A c.342G>A c.2051G>A c.4445G>A (n.4445G>A) c.10828G>A (p.Asp3610Asn) n.4757G>A c.10957G>A (p.Asp3653Asn) | gnomAD v4 |
2 | g.73572831G>C | CA347286427 | ALMS1 | c.10573G>C (p.Asp3525His) c.3659G>C c.7854G>C c.5020G>C (p.Asp1674His) c.7899G>C c.10954G>C (p.Asp3652His) c.1108G>C (p.Asp370His) c.2310G>C c.342G>C c.2051G>C c.4445G>C (n.4445G>C) c.10828G>C (p.Asp3610His) n.4757G>C c.10957G>C (p.Asp3653His) | |
2 | g.73572831G>T | CA347286429 | ALMS1 | c.10573G>T (p.Asp3525Tyr) c.3659G>T c.7854G>T c.5020G>T (p.Asp1674Tyr) c.7899G>T c.10954G>T (p.Asp3652Tyr) c.1108G>T (p.Asp370Tyr) c.2310G>T c.342G>T c.2051G>T c.4445G>T (n.4445G>T) c.10828G>T (p.Asp3610Tyr) n.4757G>T c.10957G>T (p.Asp3653Tyr) | |
2 | g.73572832A= | CA1261022004 | ALMS1 | c.10574A= (p.Asp3525=) c.3660A= c.7855A= c.5021A= (p.Asp1674=) c.7900A= c.10955A= (p.Asp3652=) c.1109A= (p.Asp370=) c.2311A= c.343A= c.2052A= c.4446A= (n.4446A=) c.10829A= (p.Asp3610=) n.4758A= c.10958A= (p.Asp3653=) | |
2 | g.73572832A>C | CA347286434 | ALMS1 | c.10574A>C (p.Asp3525Ala) c.3660A>C c.7855A>C c.5021A>C (p.Asp1674Ala) c.7900A>C c.10955A>C (p.Asp3652Ala) c.1109A>C (p.Asp370Ala) c.2311A>C c.343A>C c.2052A>C c.4446A>C (n.4446A>C) c.10829A>C (p.Asp3610Ala) n.4758A>C c.10958A>C (p.Asp3653Ala) | |
2 | g.73572832A>G | CA347286437 | ALMS1 | c.10574A>G (p.Asp3525Gly) c.3660A>G c.7855A>G c.5021A>G (p.Asp1674Gly) c.7900A>G c.10955A>G (p.Asp3652Gly) c.1109A>G (p.Asp370Gly) c.2311A>G c.343A>G c.2052A>G c.4446A>G (n.4446A>G) c.10829A>G (p.Asp3610Gly) n.4758A>G c.10958A>G (p.Asp3653Gly) | gnomAD v4 |
2 | g.73572832A>T | CA1715093 | ALMS1 | c.10574A>T (p.Asp3525Val) c.3660A>T c.7855A>T c.5021A>T (p.Asp1674Val) c.7900A>T c.10955A>T (p.Asp3652Val) c.1109A>T (p.Asp370Val) c.2311A>T c.343A>T c.2052A>T c.4446A>T (n.4446A>T) c.10829A>T (p.Asp3610Val) n.4758A>T c.10958A>T (p.Asp3653Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572833T>A | CA347286441 | ALMS1 | c.10575T>A (p.Asp3525Glu) c.3661T>A c.7856T>A c.5022T>A (p.Asp1674Glu) c.7901T>A c.10956T>A (p.Asp3652Glu) c.1110T>A (p.Asp370Glu) c.2312T>A c.344T>A c.2053T>A c.4447T>A (n.4447T>A) c.10830T>A (p.Asp3610Glu) n.4759T>A c.10959T>A (p.Asp3653Glu) | |
2 | g.73572833T>C | CA427024174 | ALMS1 | c.10575T>C (p.Asp3525=) c.3661T>C c.7856T>C c.5022T>C (p.Asp1674=) c.7901T>C c.10956T>C (p.Asp3652=) c.1110T>C (p.Asp370=) c.2312T>C c.344T>C c.2053T>C c.4447T>C (n.4447T>C) c.10830T>C (p.Asp3610=) n.4759T>C c.10959T>C (p.Asp3653=) | |
2 | g.73572833T>G | CA347286445 | ALMS1 | c.10575T>G (p.Asp3525Glu) c.3661T>G c.7856T>G c.5022T>G (p.Asp1674Glu) c.7901T>G c.10956T>G (p.Asp3652Glu) c.1110T>G (p.Asp370Glu) c.2312T>G c.344T>G c.2053T>G c.4447T>G (n.4447T>G) c.10830T>G (p.Asp3610Glu) n.4759T>G c.10959T>G (p.Asp3653Glu) | |
2 | g.73572834G>A | CA347286449 | ALMS1 | c.10576G>A (p.Asp3526Asn) c.3662G>A c.7857G>A c.5023G>A (p.Asp1675Asn) c.7902G>A c.10957G>A (p.Asp3653Asn) c.1111G>A (p.Asp371Asn) c.2313G>A c.345G>A c.2054G>A c.4448G>A (n.4448G>A) c.10831G>A (p.Asp3611Asn) n.4760G>A c.10960G>A (p.Asp3654Asn) | dbSNP gnomAD v2 |
2 | g.73572834G>C | CA347286451 | ALMS1 | c.10576G>C (p.Asp3526His) c.3662G>C c.7857G>C c.5023G>C (p.Asp1675His) c.7902G>C c.10957G>C (p.Asp3653His) c.1111G>C (p.Asp371His) c.2313G>C c.345G>C c.2054G>C c.4448G>C (n.4448G>C) c.10831G>C (p.Asp3611His) n.4760G>C c.10960G>C (p.Asp3654His) | |
2 | g.73572834G= | CA1261022006 | ALMS1 | c.10576G= (p.Asp3526=) c.3662G= c.7857G= c.5023G= (p.Asp1675=) c.7902G= c.10957G= (p.Asp3653=) c.1111G= (p.Asp371=) c.2313G= c.345G= c.2054G= c.4448G= (n.4448G=) c.10831G= (p.Asp3611=) n.4760G= c.10960G= (p.Asp3654=) | |
2 | g.73572834G>T | CA347286454 | ALMS1 | c.10576G>T (p.Asp3526Tyr) c.3662G>T c.7857G>T c.5023G>T (p.Asp1675Tyr) c.7902G>T c.10957G>T (p.Asp3653Tyr) c.1111G>T (p.Asp371Tyr) c.2313G>T c.345G>T c.2054G>T c.4448G>T (n.4448G>T) c.10831G>T (p.Asp3611Tyr) n.4760G>T c.10960G>T (p.Asp3654Tyr) | ClinVar |
2 | g.73572835A>C | CA347286459 | ALMS1 | c.10577A>C (p.Asp3526Ala) c.3663A>C c.7858A>C c.5024A>C (p.Asp1675Ala) c.7903A>C c.10958A>C (p.Asp3653Ala) c.1112A>C (p.Asp371Ala) c.2314A>C c.346A>C c.2055A>C c.4449A>C (n.4449A>C) c.10832A>C (p.Asp3611Ala) n.4761A>C c.10961A>C (p.Asp3654Ala) | |
2 | g.73572835A>G | CA347286466 | ALMS1 | c.10577A>G (p.Asp3526Gly) c.3663A>G c.7858A>G c.5024A>G (p.Asp1675Gly) c.7903A>G c.10958A>G (p.Asp3653Gly) c.1112A>G (p.Asp371Gly) c.2314A>G c.346A>G c.2055A>G c.4449A>G (n.4449A>G) c.10832A>G (p.Asp3611Gly) n.4761A>G c.10961A>G (p.Asp3654Gly) | ClinVar gnomAD v4 |
2 | g.73572835A>T | CA347286469 | ALMS1 | c.10577A>T (p.Asp3526Val) c.3663A>T c.7858A>T c.5024A>T (p.Asp1675Val) c.7903A>T c.10958A>T (p.Asp3653Val) c.1112A>T (p.Asp371Val) c.2314A>T c.346A>T c.2055A>T c.4449A>T (n.4449A>T) c.10832A>T (p.Asp3611Val) n.4761A>T c.10961A>T (p.Asp3654Val) | |
2 | g.73572836T>A | CA347286473 | ALMS1 | c.10578T>A (p.Asp3526Glu) c.3664T>A c.7859T>A c.5025T>A (p.Asp1675Glu) c.7904T>A c.10959T>A (p.Asp3653Glu) c.1113T>A (p.Asp371Glu) c.2315T>A c.347T>A c.2056T>A c.4450T>A (n.4450T>A) c.10833T>A (p.Asp3611Glu) n.4762T>A c.10962T>A (p.Asp3654Glu) | |
2 | g.73572836T>C | CA427024176 | ALMS1 | c.10578T>C (p.Asp3526=) c.3664T>C c.7859T>C c.5025T>C (p.Asp1675=) c.7904T>C c.10959T>C (p.Asp3653=) c.1113T>C (p.Asp371=) c.2315T>C c.347T>C c.2056T>C c.4450T>C (n.4450T>C) c.10833T>C (p.Asp3611=) n.4762T>C c.10962T>C (p.Asp3654=) | gnomAD v4 |
2 | g.73572836T>G | CA347286475 | ALMS1 | c.10578T>G (p.Asp3526Glu) c.3664T>G c.7859T>G c.5025T>G (p.Asp1675Glu) c.7904T>G c.10959T>G (p.Asp3653Glu) c.1113T>G (p.Asp371Glu) c.2315T>G c.347T>G c.2056T>G c.4450T>G (n.4450T>G) c.10833T>G (p.Asp3611Glu) n.4762T>G c.10962T>G (p.Asp3654Glu) | |
2 | g.73572837A>C | CA347286479 | ALMS1 | c.10579A>C (p.Ser3527Arg) c.3665A>C c.7860A>C c.5026A>C (p.Ser1676Arg) c.7905A>C c.10960A>C (p.Ser3654Arg) c.1114A>C (p.Ser372Arg) c.2316A>C c.348A>C c.2057A>C c.4451A>C (n.4451A>C) c.10834A>C (p.Ser3612Arg) n.4763A>C c.10963A>C (p.Ser3655Arg) | |
2 | g.73572837A>G | CA347286482 | ALMS1 | c.10579A>G (p.Ser3527Gly) c.3665A>G c.7860A>G c.5026A>G (p.Ser1676Gly) c.7905A>G c.10960A>G (p.Ser3654Gly) c.1114A>G (p.Ser372Gly) c.2316A>G c.348A>G c.2057A>G c.4451A>G (n.4451A>G) c.10834A>G (p.Ser3612Gly) n.4763A>G c.10963A>G (p.Ser3655Gly) | |
2 | g.73572837A>T | CA347286485 | ALMS1 | c.10579A>T (p.Ser3527Cys) c.3665A>T c.7860A>T c.5026A>T (p.Ser1676Cys) c.7905A>T c.10960A>T (p.Ser3654Cys) c.1114A>T (p.Ser372Cys) c.2316A>T c.348A>T c.2057A>T c.4451A>T (n.4451A>T) c.10834A>T (p.Ser3612Cys) n.4763A>T c.10963A>T (p.Ser3655Cys) | |
2 | g.73572838G>A | CA347286489 | ALMS1 | c.10580G>A (p.Ser3527Asn) c.3666G>A c.7861G>A c.5027G>A (p.Ser1676Asn) c.7906G>A c.10961G>A (p.Ser3654Asn) c.1115G>A (p.Ser372Asn) c.2317G>A c.349G>A c.2058G>A c.4452G>A (n.4452G>A) c.10835G>A (p.Ser3612Asn) n.4764G>A c.10964G>A (p.Ser3655Asn) | dbSNP gnomAD v2 |
2 | g.73572838G>C | CA347286495 | ALMS1 | c.10580G>C (p.Ser3527Thr) c.3666G>C c.7861G>C c.5027G>C (p.Ser1676Thr) c.7906G>C c.10961G>C (p.Ser3654Thr) c.1115G>C (p.Ser372Thr) c.2317G>C c.349G>C c.2058G>C c.4452G>C (n.4452G>C) c.10835G>C (p.Ser3612Thr) n.4764G>C c.10964G>C (p.Ser3655Thr) | |
2 | g.73572838G= | CA1261022008 | ALMS1 | c.10580G= (p.Ser3527=) c.3666G= c.7861G= c.5027G= (p.Ser1676=) c.7906G= c.10961G= (p.Ser3654=) c.1115G= (p.Ser372=) c.2317G= c.349G= c.2058G= c.4452G= (n.4452G=) c.10835G= (p.Ser3612=) n.4764G= c.10964G= (p.Ser3655=) | |
2 | g.73572838G>T | CA347286493 | ALMS1 | c.10580G>T (p.Ser3527Ile) c.3666G>T c.7861G>T c.5027G>T (p.Ser1676Ile) c.7906G>T c.10961G>T (p.Ser3654Ile) c.1115G>T (p.Ser372Ile) c.2317G>T c.349G>T c.2058G>T c.4452G>T (n.4452G>T) c.10835G>T (p.Ser3612Ile) n.4764G>T c.10964G>T (p.Ser3655Ile) | |
2 | g.73572839C>A | CA347286499 | ALMS1 | c.10581C>A (p.Ser3527Arg) c.3667C>A c.7862C>A c.5028C>A (p.Ser1676Arg) c.7907C>A c.10962C>A (p.Ser3654Arg) c.1116C>A (p.Ser372Arg) c.2318C>A c.350C>A c.2059C>A c.4453C>A (n.4453C>A) c.10836C>A (p.Ser3612Arg) n.4765C>A c.10965C>A (p.Ser3655Arg) | |
2 | g.73572839C= | CA1261022010 | ALMS1 | c.10581C= (p.Ser3527=) c.3667C= c.7862C= c.5028C= (p.Ser1676=) c.7907C= c.10962C= (p.Ser3654=) c.1116C= (p.Ser372=) c.2318C= c.350C= c.2059C= c.4453C= (n.4453C=) c.10836C= (p.Ser3612=) n.4765C= c.10965C= (p.Ser3655=) | |
2 | g.73572839C>G | CA347286501 | ALMS1 | c.10581C>G (p.Ser3527Arg) c.3667C>G c.7862C>G c.5028C>G (p.Ser1676Arg) c.7907C>G c.10962C>G (p.Ser3654Arg) c.1116C>G (p.Ser372Arg) c.2318C>G c.350C>G c.2059C>G c.4453C>G (n.4453C>G) c.10836C>G (p.Ser3612Arg) n.4765C>G c.10965C>G (p.Ser3655Arg) | |
2 | g.73572839C>T | CA427024182 | ALMS1 | c.10581C>T (p.Ser3527=) c.3667C>T c.7862C>T c.5028C>T (p.Ser1676=) c.7907C>T c.10962C>T (p.Ser3654=) c.1116C>T (p.Ser372=) c.2318C>T c.350C>T c.2059C>T c.4453C>T (n.4453C>T) c.10836C>T (p.Ser3612=) n.4765C>T c.10965C>T (p.Ser3655=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.73572840A>C | CA427024183 | ALMS1 | c.10582A>C (p.Arg3528=) c.3668A>C c.7863A>C c.5029A>C (p.Arg1677=) c.7908A>C c.10963A>C (p.Arg3655=) c.1117A>C (p.Arg373=) c.2319A>C c.351A>C c.2060A>C c.4454A>C (n.4454A>C) c.10837A>C (p.Arg3613=) n.4766A>C c.10966A>C (p.Arg3656=) | |
2 | g.73572840A>G | CA347286506 | ALMS1 | c.10582A>G (p.Arg3528Gly) c.3668A>G c.7863A>G c.5029A>G (p.Arg1677Gly) c.7908A>G c.10963A>G (p.Arg3655Gly) c.1117A>G (p.Arg373Gly) c.2319A>G c.351A>G c.2060A>G c.4454A>G (n.4454A>G) c.10837A>G (p.Arg3613Gly) n.4766A>G c.10966A>G (p.Arg3656Gly) | |
2 | g.73572840A>T | CA347286507 | ALMS1 | c.10582A>T (p.Arg3528Ter) c.3668A>T c.7863A>T c.5029A>T (p.Arg1677Ter) c.7908A>T c.10963A>T (p.Arg3655Ter) c.1117A>T (p.Arg373Ter) c.2319A>T c.351A>T c.2060A>T c.4454A>T (n.4454A>T) c.10837A>T (p.Arg3613Ter) n.4766A>T c.10966A>T (p.Arg3656Ter) | |
2 | g.73572841G>A | CA347286512 | ALMS1 | c.10583G>A (p.Arg3528Lys) c.3669G>A c.7864G>A c.5030G>A (p.Arg1677Lys) c.7909G>A c.10964G>A (p.Arg3655Lys) c.1118G>A (p.Arg373Lys) c.2320G>A c.352G>A c.2061G>A c.4455G>A (n.4455G>A) c.10838G>A (p.Arg3613Lys) n.4767G>A c.10967G>A (p.Arg3656Lys) | |
2 | g.73572841G>C | CA347286518 | ALMS1 | c.10583G>C (p.Arg3528Thr) c.3669G>C c.7864G>C c.5030G>C (p.Arg1677Thr) c.7909G>C c.10964G>C (p.Arg3655Thr) c.1118G>C (p.Arg373Thr) c.2320G>C c.352G>C c.2061G>C c.4455G>C (n.4455G>C) c.10838G>C (p.Arg3613Thr) n.4767G>C c.10967G>C (p.Arg3656Thr) | |
2 | g.73572841G>T | CA347286515 | ALMS1 | c.10583G>T (p.Arg3528Ile) c.3669G>T c.7864G>T c.5030G>T (p.Arg1677Ile) c.7909G>T c.10964G>T (p.Arg3655Ile) c.1118G>T (p.Arg373Ile) c.2320G>T c.352G>T c.2061G>T c.4455G>T (n.4455G>T) c.10838G>T (p.Arg3613Ile) n.4767G>T c.10967G>T (p.Arg3656Ile) | |
2 | g.73572842A>C | CA347286520 | ALMS1 | c.10584A>C (p.Arg3528Ser) c.3670A>C c.7865A>C c.5031A>C (p.Arg1677Ser) c.7910A>C c.10965A>C (p.Arg3655Ser) c.1119A>C (p.Arg373Ser) c.2321A>C c.353A>C c.2062A>C c.4456A>C (n.4456A>C) c.10839A>C (p.Arg3613Ser) n.4768A>C c.10968A>C (p.Arg3656Ser) | gnomAD v4 |
2 | g.73572842A>G | CA427024188 | ALMS1 | c.10584A>G (p.Arg3528=) c.3670A>G c.7865A>G c.5031A>G (p.Arg1677=) c.7910A>G c.10965A>G (p.Arg3655=) c.1119A>G (p.Arg373=) c.2321A>G c.353A>G c.2062A>G c.4456A>G (n.4456A>G) c.10839A>G (p.Arg3613=) n.4768A>G c.10968A>G (p.Arg3656=) | |
2 | g.73572842A>T | CA347286521 | ALMS1 | c.10584A>T (p.Arg3528Ser) c.3670A>T c.7865A>T c.5031A>T (p.Arg1677Ser) c.7910A>T c.10965A>T (p.Arg3655Ser) c.1119A>T (p.Arg373Ser) c.2321A>T c.353A>T c.2062A>T c.4456A>T (n.4456A>T) c.10839A>T (p.Arg3613Ser) n.4768A>T c.10968A>T (p.Arg3656Ser) | |
2 | g.73572843G>A | CA347286522 | ALMS1 | c.10585G>A (p.Gly3529Arg) c.3671G>A c.7866G>A c.5032G>A (p.Gly1678Arg) c.7911G>A c.10966G>A (p.Gly3656Arg) c.1120G>A (p.Gly374Arg) c.2322G>A c.354G>A c.2063G>A c.4457G>A (n.4457G>A) c.10840G>A (p.Gly3614Arg) n.4769G>A c.10969G>A (p.Gly3657Arg) | ClinVar dbSNP |
2 | g.73572843G>C | CA347286523 | ALMS1 | c.10585G>C (p.Gly3529Arg) c.3671G>C c.7866G>C c.5032G>C (p.Gly1678Arg) c.7911G>C c.10966G>C (p.Gly3656Arg) c.1120G>C (p.Gly374Arg) c.2322G>C c.354G>C c.2063G>C c.4457G>C (n.4457G>C) c.10840G>C (p.Gly3614Arg) n.4769G>C c.10969G>C (p.Gly3657Arg) | |
2 | g.73572843G= | CA1261022011 | ALMS1 | c.10585G= (p.Gly3529=) c.3671G= c.7866G= c.5032G= (p.Gly1678=) c.7911G= c.10966G= (p.Gly3656=) c.1120G= (p.Gly374=) c.2322G= c.354G= c.2063G= c.4457G= (n.4457G=) c.10840G= (p.Gly3614=) n.4769G= c.10969G= (p.Gly3657=) | |
2 | g.73572843G>T | CA347286524 | ALMS1 | c.10585G>T (p.Gly3529Trp) c.3671G>T c.7866G>T c.5032G>T (p.Gly1678Trp) c.7911G>T c.10966G>T (p.Gly3656Trp) c.1120G>T (p.Gly374Trp) c.2322G>T c.354G>T c.2063G>T c.4457G>T (n.4457G>T) c.10840G>T (p.Gly3614Trp) n.4769G>T c.10969G>T (p.Gly3657Trp) | |
2 | g.73572844G>A | CA347286526 | ALMS1 | c.10586G>A (p.Gly3529Glu) c.3672G>A c.7867G>A c.5033G>A (p.Gly1678Glu) c.7912G>A c.10967G>A (p.Gly3656Glu) c.1121G>A (p.Gly374Glu) c.2323G>A c.355G>A c.2064G>A c.4458G>A (n.4458G>A) c.10841G>A (p.Gly3614Glu) n.4770G>A c.10970G>A (p.Gly3657Glu) | ClinVar gnomAD v4 |
2 | g.73572844G>C | CA347286528 | ALMS1 | c.10586G>C (p.Gly3529Ala) c.3672G>C c.7867G>C c.5033G>C (p.Gly1678Ala) c.7912G>C c.10967G>C (p.Gly3656Ala) c.1121G>C (p.Gly374Ala) c.2323G>C c.355G>C c.2064G>C c.4458G>C (n.4458G>C) c.10841G>C (p.Gly3614Ala) n.4770G>C c.10970G>C (p.Gly3657Ala) | |
2 | g.73572844G>T | CA347286529 | ALMS1 | c.10586G>T (p.Gly3529Val) c.3672G>T c.7867G>T c.5033G>T (p.Gly1678Val) c.7912G>T c.10967G>T (p.Gly3656Val) c.1121G>T (p.Gly374Val) c.2323G>T c.355G>T c.2064G>T c.4458G>T (n.4458G>T) c.10841G>T (p.Gly3614Val) n.4770G>T c.10970G>T (p.Gly3657Val) | |
2 | g.73572845G>A | CA427024194 | ALMS1 | c.10587G>A (p.Gly3529=) c.3673G>A c.7868G>A c.5034G>A (p.Gly1678=) c.7913G>A c.10968G>A (p.Gly3656=) c.1122G>A (p.Gly374=) c.2324G>A c.356G>A c.2065G>A c.4459G>A (n.4459G>A) c.10842G>A (p.Gly3614=) n.4771G>A c.10971G>A (p.Gly3657=) | |
2 | g.73572845G>C | CA427024196 | ALMS1 | c.10587G>C (p.Gly3529=) c.3673G>C c.7868G>C c.5034G>C (p.Gly1678=) c.7913G>C c.10968G>C (p.Gly3656=) c.1122G>C (p.Gly374=) c.2324G>C c.356G>C c.2065G>C c.4459G>C (n.4459G>C) c.10842G>C (p.Gly3614=) n.4771G>C c.10971G>C (p.Gly3657=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572845G= | CA1261022016 | ALMS1 | c.10587G= (p.Gly3529=) c.3673G= c.7868G= c.5034G= (p.Gly1678=) c.7913G= c.10968G= (p.Gly3656=) c.1122G= (p.Gly374=) c.2324G= c.356G= c.2065G= c.4459G= (n.4459G=) c.10842G= (p.Gly3614=) n.4771G= c.10971G= (p.Gly3657=) | |
2 | g.73572845G>T | CA427024197 | ALMS1 | c.10587G>T (p.Gly3529=) c.3673G>T c.7868G>T c.5034G>T (p.Gly1678=) c.7913G>T c.10968G>T (p.Gly3656=) c.1122G>T (p.Gly374=) c.2324G>T c.356G>T c.2065G>T c.4459G>T (n.4459G>T) c.10842G>T (p.Gly3614=) n.4771G>T c.10971G>T (p.Gly3657=) | |
2 | g.73572846G>A | CA347286532 | ALMS1 | c.10588G>A (p.Glu3530Lys) c.3674G>A c.7869G>A c.5035G>A (p.Glu1679Lys) c.7914G>A c.10969G>A (p.Glu3657Lys) c.1123G>A (p.Glu375Lys) c.2325G>A c.357G>A c.2066G>A c.4460G>A (n.4460G>A) c.10843G>A (p.Glu3615Lys) n.4772G>A c.10972G>A (p.Glu3658Lys) | |
2 | g.73572846G>C | CA347286534 | ALMS1 | c.10588G>C (p.Glu3530Gln) c.3674G>C c.7869G>C c.5035G>C (p.Glu1679Gln) c.7914G>C c.10969G>C (p.Glu3657Gln) c.1123G>C (p.Glu375Gln) c.2325G>C c.357G>C c.2066G>C c.4460G>C (n.4460G>C) c.10843G>C (p.Glu3615Gln) n.4772G>C c.10972G>C (p.Glu3658Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.73572846G= | CA1261022020 | ALMS1 | c.10588G= (p.Glu3530=) c.3674G= c.7869G= c.5035G= (p.Glu1679=) c.7914G= c.10969G= (p.Glu3657=) c.1123G= (p.Glu375=) c.2325G= c.357G= c.2066G= c.4460G= (n.4460G=) c.10843G= (p.Glu3615=) n.4772G= c.10972G= (p.Glu3658=) | |
2 | g.73572846G>T | CA347286537 | ALMS1 | c.10588G>T (p.Glu3530Ter) c.3674G>T c.7869G>T c.5035G>T (p.Glu1679Ter) c.7914G>T c.10969G>T (p.Glu3657Ter) c.1123G>T (p.Glu375Ter) c.2325G>T c.357G>T c.2066G>T c.4460G>T (n.4460G>T) c.10843G>T (p.Glu3615Ter) n.4772G>T c.10972G>T (p.Glu3658Ter) | |
2 | g.73572847A>C | CA347286548 | ALMS1 | c.10589A>C (p.Glu3530Ala) c.3675A>C c.7870A>C c.5036A>C (p.Glu1679Ala) c.7915A>C c.10970A>C (p.Glu3657Ala) c.1124A>C (p.Glu375Ala) c.2326A>C c.358A>C c.2067A>C c.4461A>C (n.4461A>C) c.10844A>C (p.Glu3615Ala) n.4773A>C c.10973A>C (p.Glu3658Ala) | |
2 | g.73572847A>G | CA347286541 | ALMS1 | c.10589A>G (p.Glu3530Gly) c.3675A>G c.7870A>G c.5036A>G (p.Glu1679Gly) c.7915A>G c.10970A>G (p.Glu3657Gly) c.1124A>G (p.Glu375Gly) c.2326A>G c.358A>G c.2067A>G c.4461A>G (n.4461A>G) c.10844A>G (p.Glu3615Gly) n.4773A>G c.10973A>G (p.Glu3658Gly) | |
2 | g.73572847A>T | CA347286546 | ALMS1 | c.10589A>T (p.Glu3530Val) c.3675A>T c.7870A>T c.5036A>T (p.Glu1679Val) c.7915A>T c.10970A>T (p.Glu3657Val) c.1124A>T (p.Glu375Val) c.2326A>T c.358A>T c.2067A>T c.4461A>T (n.4461A>T) c.10844A>T (p.Glu3615Val) n.4773A>T c.10973A>T (p.Glu3658Val) | |
2 | g.73572848A= | CA1261022023 | ALMS1 | c.10590A= (p.Glu3530=) c.3676A= c.7871A= c.5037A= (p.Glu1679=) c.7916A= c.10971A= (p.Glu3657=) c.1125A= (p.Glu375=) c.2327A= c.359A= c.2068A= c.4462A= (n.4462A=) c.10845A= (p.Glu3615=) n.4774A= c.10974A= (p.Glu3658=) | |
2 | g.73572848A>C | CA347286551 | ALMS1 | c.10590A>C (p.Glu3530Asp) c.3676A>C c.7871A>C c.5037A>C (p.Glu1679Asp) c.7916A>C c.10971A>C (p.Glu3657Asp) c.1125A>C (p.Glu375Asp) c.2327A>C c.359A>C c.2068A>C c.4462A>C (n.4462A>C) c.10845A>C (p.Glu3615Asp) n.4774A>C c.10974A>C (p.Glu3658Asp) | |
2 | g.73572848A>G | CA427024202 | ALMS1 | c.10590A>G (p.Glu3530=) c.3676A>G c.7871A>G c.5037A>G (p.Glu1679=) c.7916A>G c.10971A>G (p.Glu3657=) c.1125A>G (p.Glu375=) c.2327A>G c.359A>G c.2068A>G c.4462A>G (n.4462A>G) c.10845A>G (p.Glu3615=) n.4774A>G c.10974A>G (p.Glu3658=) | ClinVar dbSNP |
2 | g.73572848A>T | CA50386558 | ALMS1 | c.10590A>T (p.Glu3530Asp) c.3676A>T c.7871A>T c.5037A>T (p.Glu1679Asp) c.7916A>T c.10971A>T (p.Glu3657Asp) c.1125A>T (p.Glu375Asp) c.2327A>T c.359A>T c.2068A>T c.4462A>T (n.4462A>T) c.10845A>T (p.Glu3615Asp) n.4774A>T c.10974A>T (p.Glu3658Asp) | dbSNP gnomAD v4 |
2 | g.73572849C>A | CA427024205 | ALMS1 | c.10591C>A (p.Arg3531=) c.3677C>A c.7872C>A c.5038C>A (p.Arg1680=) c.7917C>A c.10972C>A (p.Arg3658=) c.1126C>A (p.Arg376=) c.2328C>A c.360C>A c.2069C>A c.4463C>A (n.4463C>A) c.10846C>A (p.Arg3616=) n.4775C>A c.10975C>A (p.Arg3659=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73572849C= | CA1261022028 | ALMS1 | c.10591C= (p.Arg3531=) c.3677C= c.7872C= c.5038C= (p.Arg1680=) c.7917C= c.10972C= (p.Arg3658=) c.1126C= (p.Arg376=) c.2328C= c.360C= c.2069C= c.4463C= (n.4463C=) c.10846C= (p.Arg3616=) n.4775C= c.10975C= (p.Arg3659=) | |
2 | g.73572849C>G | CA347286556 | ALMS1 | c.10591C>G (p.Arg3531Gly) c.3677C>G c.7872C>G c.5038C>G (p.Arg1680Gly) c.7917C>G c.10972C>G (p.Arg3658Gly) c.1126C>G (p.Arg376Gly) c.2328C>G c.360C>G c.2069C>G c.4463C>G (n.4463C>G) c.10846C>G (p.Arg3616Gly) n.4775C>G c.10975C>G (p.Arg3659Gly) | |
2 | g.73572849C>T | CA50386559 | ALMS1 | c.10591C>T (p.Arg3531Ter) c.3677C>T c.7872C>T c.5038C>T (p.Arg1680Ter) c.7917C>T c.10972C>T (p.Arg3658Ter) c.1126C>T (p.Arg376Ter) c.2328C>T c.360C>T c.2069C>T c.4463C>T (n.4463C>T) c.10846C>T (p.Arg3616Ter) n.4775C>T c.10975C>T (p.Arg3659Ter) | ClinVar dbSNP gnomAD v4 |
2 | g.73572850G>A | CA1715094 | ALMS1 | c.10592G>A (p.Arg3531Gln) c.3678G>A c.7873G>A c.5039G>A (p.Arg1680Gln) c.7918G>A c.10973G>A (p.Arg3658Gln) c.1127G>A (p.Arg376Gln) c.2329G>A c.361G>A c.2070G>A c.4464G>A (n.4464G>A) c.10847G>A (p.Arg3616Gln) n.4776G>A c.10976G>A (p.Arg3659Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572850G>C | CA347286566 | ALMS1 | c.10592G>C (p.Arg3531Pro) c.3678G>C c.7873G>C c.5039G>C (p.Arg1680Pro) c.7918G>C c.10973G>C (p.Arg3658Pro) c.1127G>C (p.Arg376Pro) c.2329G>C c.361G>C c.2070G>C c.4464G>C (n.4464G>C) c.10847G>C (p.Arg3616Pro) n.4776G>C c.10976G>C (p.Arg3659Pro) | |
2 | g.73572850G= | CA1261022036 | ALMS1 | c.10592G= (p.Arg3531=) c.3678G= c.7873G= c.5039G= (p.Arg1680=) c.7918G= c.10973G= (p.Arg3658=) c.1127G= (p.Arg376=) c.2329G= c.361G= c.2070G= c.4464G= (n.4464G=) c.10847G= (p.Arg3616=) n.4776G= c.10976G= (p.Arg3659=) | |
2 | g.73572850G>T | CA347286569 | ALMS1 | c.10592G>T (p.Arg3531Leu) c.3678G>T c.7873G>T c.5039G>T (p.Arg1680Leu) c.7918G>T c.10973G>T (p.Arg3658Leu) c.1127G>T (p.Arg376Leu) c.2329G>T c.361G>T c.2070G>T c.4464G>T (n.4464G>T) c.10847G>T (p.Arg3616Leu) n.4776G>T c.10976G>T (p.Arg3659Leu) | |
2 | g.73572850_73572874del | CA2750467830 | ALMS1 | c.10592_10616del (p.Arg3531HisfsTer17) c.3678_3702del c.7873_7897del c.5039_5063del (p.Arg1680HisfsTer17) c.7918_7942del c.10973_10997del (p.Arg3658HisfsTer17) c.1127_1151del (p.Arg376HisfsTer17) c.2329_2353del c.361_385del c.2070_2094del c.4464_4488del (n.4464_4488del) c.10847_10871del (p.Arg3616HisfsTer17) n.4776_4800del c.10976_11000del (p.Arg3659HisfsTer17) | |
2 | g.73572851A>C | CA427024207 | ALMS1 | c.10593A>C (p.Arg3531=) c.3679A>C c.7874A>C c.5040A>C (p.Arg1680=) c.7919A>C c.10974A>C (p.Arg3658=) c.1128A>C (p.Arg376=) c.2330A>C c.362A>C c.2071A>C c.4465A>C (n.4465A>C) c.10848A>C (p.Arg3616=) n.4777A>C c.10977A>C (p.Arg3659=) | |
2 | g.73572851A>G | CA427024208 | ALMS1 | c.10593A>G (p.Arg3531=) c.3679A>G c.7874A>G c.5040A>G (p.Arg1680=) c.7919A>G c.10974A>G (p.Arg3658=) c.1128A>G (p.Arg376=) c.2330A>G c.362A>G c.2071A>G c.4465A>G (n.4465A>G) c.10848A>G (p.Arg3616=) n.4777A>G c.10977A>G (p.Arg3659=) | |
2 | g.73572851A>T | CA427024209 | ALMS1 | c.10593A>T (p.Arg3531=) c.3679A>T c.7874A>T c.5040A>T (p.Arg1680=) c.7919A>T c.10974A>T (p.Arg3658=) c.1128A>T (p.Arg376=) c.2330A>T c.362A>T c.2071A>T c.4465A>T (n.4465A>T) c.10848A>T (p.Arg3616=) n.4777A>T c.10977A>T (p.Arg3659=) | |
2 | g.73572852A>C | CA347286573 | ALMS1 | c.10594A>C (p.Ser3532Arg) c.3680A>C c.7875A>C c.5041A>C (p.Ser1681Arg) c.7920A>C c.10975A>C (p.Ser3659Arg) c.1129A>C (p.Ser377Arg) c.2331A>C c.363A>C c.2072A>C c.4466A>C (n.4466A>C) c.10849A>C (p.Ser3617Arg) n.4778A>C c.10978A>C (p.Ser3660Arg) | |
2 | g.73572852A>G | CA347286576 | ALMS1 | c.10594A>G (p.Ser3532Gly) c.3680A>G c.7875A>G c.5041A>G (p.Ser1681Gly) c.7920A>G c.10975A>G (p.Ser3659Gly) c.1129A>G (p.Ser377Gly) c.2331A>G c.363A>G c.2072A>G c.4466A>G (n.4466A>G) c.10849A>G (p.Ser3617Gly) n.4778A>G c.10978A>G (p.Ser3660Gly) | |
2 | g.73572852A>T | CA347286580 | ALMS1 | c.10594A>T (p.Ser3532Cys) c.3680A>T c.7875A>T c.5041A>T (p.Ser1681Cys) c.7920A>T c.10975A>T (p.Ser3659Cys) c.1129A>T (p.Ser377Cys) c.2331A>T c.363A>T c.2072A>T c.4466A>T (n.4466A>T) c.10849A>T (p.Ser3617Cys) n.4778A>T c.10978A>T (p.Ser3660Cys) | |
2 | g.73572853G>A | CA347286590 | ALMS1 | c.10595G>A (p.Ser3532Asn) c.3681G>A c.7876G>A c.5042G>A (p.Ser1681Asn) c.7921G>A c.10976G>A (p.Ser3659Asn) c.1130G>A (p.Ser377Asn) c.2332G>A c.364G>A c.2073G>A c.4467G>A (n.4467G>A) c.10850G>A (p.Ser3617Asn) n.4779G>A c.10979G>A (p.Ser3660Asn) | |
2 | g.73572853G>C | CA347286587 | ALMS1 | c.10595G>C (p.Ser3532Thr) c.3681G>C c.7876G>C c.5042G>C (p.Ser1681Thr) c.7921G>C c.10976G>C (p.Ser3659Thr) c.1130G>C (p.Ser377Thr) c.2332G>C c.364G>C c.2073G>C c.4467G>C (n.4467G>C) c.10850G>C (p.Ser3617Thr) n.4779G>C c.10979G>C (p.Ser3660Thr) | |
2 | g.73572853G>T | CA347286584 | ALMS1 | c.10595G>T (p.Ser3532Ile) c.3681G>T c.7876G>T c.5042G>T (p.Ser1681Ile) c.7921G>T c.10976G>T (p.Ser3659Ile) c.1130G>T (p.Ser377Ile) c.2332G>T c.364G>T c.2073G>T c.4467G>T (n.4467G>T) c.10850G>T (p.Ser3617Ile) n.4779G>T c.10979G>T (p.Ser3660Ile) | |
2 | g.73572854T>A | CA347286593 | ALMS1 | c.10596T>A (p.Ser3532Arg) c.3682T>A c.7877T>A c.5043T>A (p.Ser1681Arg) c.7922T>A c.10977T>A (p.Ser3659Arg) c.1131T>A (p.Ser377Arg) c.2333T>A c.365T>A c.2074T>A c.4468T>A (n.4468T>A) c.10851T>A (p.Ser3617Arg) n.4780T>A c.10980T>A (p.Ser3660Arg) | |
2 | g.73572854T>C | CA427024219 | ALMS1 | c.10596T>C (p.Ser3532=) c.3682T>C c.7877T>C c.5043T>C (p.Ser1681=) c.7922T>C c.10977T>C (p.Ser3659=) c.1131T>C (p.Ser377=) c.2333T>C c.365T>C c.2074T>C c.4468T>C (n.4468T>C) c.10851T>C (p.Ser3617=) n.4780T>C c.10980T>C (p.Ser3660=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73572854T>G | CA347286597 | ALMS1 | c.10596T>G (p.Ser3532Arg) c.3682T>G c.7877T>G c.5043T>G (p.Ser1681Arg) c.7922T>G c.10977T>G (p.Ser3659Arg) c.1131T>G (p.Ser377Arg) c.2333T>G c.365T>G c.2074T>G c.4468T>G (n.4468T>G) c.10851T>G (p.Ser3617Arg) n.4780T>G c.10980T>G (p.Ser3660Arg) | |
2 | g.73572854T= | CA1261022038 | ALMS1 | c.10596T= (p.Ser3532=) c.3682T= c.7877T= c.5043T= (p.Ser1681=) c.7922T= c.10977T= (p.Ser3659=) c.1131T= (p.Ser377=) c.2333T= c.365T= c.2074T= c.4468T= (n.4468T=) c.10851T= (p.Ser3617=) n.4780T= c.10980T= (p.Ser3660=) | |
2 | g.73572855G>A | CA347286600 | ALMS1 | c.10597G>A (p.Val3533Met) c.3683G>A c.7878G>A c.5044G>A (p.Val1682Met) c.7923G>A c.10978G>A (p.Val3660Met) c.1132G>A (p.Val378Met) c.2334G>A c.366G>A c.2075G>A c.4469G>A (n.4469G>A) c.10852G>A (p.Val3618Met) n.4781G>A c.10981G>A (p.Val3661Met) | gnomAD v4 |
2 | g.73572855G>C | CA347286603 | ALMS1 | c.10597G>C (p.Val3533Leu) c.3683G>C c.7878G>C c.5044G>C (p.Val1682Leu) c.7923G>C c.10978G>C (p.Val3660Leu) c.1132G>C (p.Val378Leu) c.2334G>C c.366G>C c.2075G>C c.4469G>C (n.4469G>C) c.10852G>C (p.Val3618Leu) n.4781G>C c.10981G>C (p.Val3661Leu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73572855G= | CA1261022039 | ALMS1 | c.10597G= (p.Val3533=) c.3683G= c.7878G= c.5044G= (p.Val1682=) c.7923G= c.10978G= (p.Val3660=) c.1132G= (p.Val378=) c.2334G= c.366G= c.2075G= c.4469G= (n.4469G=) c.10852G= (p.Val3618=) n.4781G= c.10981G= (p.Val3661=) | |
2 | g.73572855G>T | CA347286606 | ALMS1 | c.10597G>T (p.Val3533Leu) c.3683G>T c.7878G>T c.5044G>T (p.Val1682Leu) c.7923G>T c.10978G>T (p.Val3660Leu) c.1132G>T (p.Val378Leu) c.2334G>T c.366G>T c.2075G>T c.4469G>T (n.4469G>T) c.10852G>T (p.Val3618Leu) n.4781G>T c.10981G>T (p.Val3661Leu) | |
2 | g.73572856T>A | CA347286610 | ALMS1 | c.10598T>A (p.Val3533Glu) c.3684T>A c.7879T>A c.5045T>A (p.Val1682Glu) c.7924T>A c.10979T>A (p.Val3660Glu) c.1133T>A (p.Val378Glu) c.2335T>A c.367T>A c.2076T>A c.4470T>A (n.4470T>A) c.10853T>A (p.Val3618Glu) n.4782T>A c.10982T>A (p.Val3661Glu) | |
2 | g.73572856T>C | CA347286611 | ALMS1 | c.10598T>C (p.Val3533Ala) c.3684T>C c.7879T>C c.5045T>C (p.Val1682Ala) c.7924T>C c.10979T>C (p.Val3660Ala) c.1133T>C (p.Val378Ala) c.2335T>C c.367T>C c.2076T>C c.4470T>C (n.4470T>C) c.10853T>C (p.Val3618Ala) n.4782T>C c.10982T>C (p.Val3661Ala) | |
2 | g.73572856T>G | CA347286614 | ALMS1 | c.10598T>G (p.Val3533Gly) c.3684T>G c.7879T>G c.5045T>G (p.Val1682Gly) c.7924T>G c.10979T>G (p.Val3660Gly) c.1133T>G (p.Val378Gly) c.2335T>G c.367T>G c.2076T>G c.4470T>G (n.4470T>G) c.10853T>G (p.Val3618Gly) n.4782T>G c.10982T>G (p.Val3661Gly) | |
2 | g.73572857G>A | CA1715095 | ALMS1 | c.10599G>A (p.Val3533=) c.3685G>A c.7880G>A c.5046G>A (p.Val1682=) c.7925G>A c.10980G>A (p.Val3660=) c.1134G>A (p.Val378=) c.2336G>A c.368G>A c.2077G>A c.4471G>A (n.4471G>A) c.10854G>A (p.Val3618=) n.4783G>A c.10983G>A (p.Val3661=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572857G>C | CA427024225 | ALMS1 | c.10599G>C (p.Val3533=) c.3685G>C c.7880G>C c.5046G>C (p.Val1682=) c.7925G>C c.10980G>C (p.Val3660=) c.1134G>C (p.Val378=) c.2336G>C c.368G>C c.2077G>C c.4471G>C (n.4471G>C) c.10854G>C (p.Val3618=) n.4783G>C c.10983G>C (p.Val3661=) | |
2 | g.73572857G= | CA1261022041 | ALMS1 | c.10599G= (p.Val3533=) c.3685G= c.7880G= c.5046G= (p.Val1682=) c.7925G= c.10980G= (p.Val3660=) c.1134G= (p.Val378=) c.2336G= c.368G= c.2077G= c.4471G= (n.4471G=) c.10854G= (p.Val3618=) n.4783G= c.10983G= (p.Val3661=) | |
2 | g.73572857G>T | CA427024224 | ALMS1 | c.10599G>T (p.Val3533=) c.3685G>T c.7880G>T c.5046G>T (p.Val1682=) c.7925G>T c.10980G>T (p.Val3660=) c.1134G>T (p.Val378=) c.2336G>T c.368G>T c.2077G>T c.4471G>T (n.4471G>T) c.10854G>T (p.Val3618=) n.4783G>T c.10983G>T (p.Val3661=) | |
2 | g.73572858A>C | CA347286621 | ALMS1 | c.10600A>C (p.Lys3534Gln) c.3686A>C c.7881A>C c.5047A>C (p.Lys1683Gln) c.7926A>C c.10981A>C (p.Lys3661Gln) c.1135A>C (p.Lys379Gln) c.2337A>C c.369A>C c.2078A>C c.4472A>C (n.4472A>C) c.10855A>C (p.Lys3619Gln) n.4784A>C c.10984A>C (p.Lys3662Gln) | |
2 | g.73572858A>G | CA347286623 | ALMS1 | c.10600A>G (p.Lys3534Glu) c.3686A>G c.7881A>G c.5047A>G (p.Lys1683Glu) c.7926A>G c.10981A>G (p.Lys3661Glu) c.1135A>G (p.Lys379Glu) c.2337A>G c.369A>G c.2078A>G c.4472A>G (n.4472A>G) c.10855A>G (p.Lys3619Glu) n.4784A>G c.10984A>G (p.Lys3662Glu) | |
2 | g.73572858A>T | CA347286625 | ALMS1 | c.10600A>T (p.Lys3534Ter) c.3686A>T c.7881A>T c.5047A>T (p.Lys1683Ter) c.7926A>T c.10981A>T (p.Lys3661Ter) c.1135A>T (p.Lys379Ter) c.2337A>T c.369A>T c.2078A>T c.4472A>T (n.4472A>T) c.10855A>T (p.Lys3619Ter) n.4784A>T c.10984A>T (p.Lys3662Ter) | |
2 | g.73572859A>C | CA347286637 | ALMS1 | c.10601A>C (p.Lys3534Thr) c.3687A>C c.7882A>C c.5048A>C (p.Lys1683Thr) c.7927A>C c.10982A>C (p.Lys3661Thr) c.1136A>C (p.Lys379Thr) c.2338A>C c.370A>C c.2079A>C c.4473A>C (n.4473A>C) c.10856A>C (p.Lys3619Thr) n.4785A>C c.10985A>C (p.Lys3662Thr) | |
2 | g.73572859A>G | CA347286632 | ALMS1 | c.10601A>G (p.Lys3534Arg) c.3687A>G c.7882A>G c.5048A>G (p.Lys1683Arg) c.7927A>G c.10982A>G (p.Lys3661Arg) c.1136A>G (p.Lys379Arg) c.2338A>G c.370A>G c.2079A>G c.4473A>G (n.4473A>G) c.10856A>G (p.Lys3619Arg) n.4785A>G c.10985A>G (p.Lys3662Arg) | |
2 | g.73572859A>T | CA347286633 | ALMS1 | c.10601A>T (p.Lys3534Met) c.3687A>T c.7882A>T c.5048A>T (p.Lys1683Met) c.7927A>T c.10982A>T (p.Lys3661Met) c.1136A>T (p.Lys379Met) c.2338A>T c.370A>T c.2079A>T c.4473A>T (n.4473A>T) c.10856A>T (p.Lys3619Met) n.4785A>T c.10985A>T (p.Lys3662Met) | |
2 | g.73572860G>A | CA427024227 | ALMS1 | c.10602G>A (p.Lys3534=) c.3688G>A c.7883G>A c.5049G>A (p.Lys1683=) c.7928G>A c.10983G>A (p.Lys3661=) c.1137G>A (p.Lys379=) c.2339G>A c.371G>A c.2080G>A c.4474G>A (n.4474G>A) c.10857G>A (p.Lys3619=) n.4786G>A c.10986G>A (p.Lys3662=) | |
2 | g.73572860G>C | CA347286641 | ALMS1 | c.10602G>C (p.Lys3534Asn) c.3688G>C c.7883G>C c.5049G>C (p.Lys1683Asn) c.7928G>C c.10983G>C (p.Lys3661Asn) c.1137G>C (p.Lys379Asn) c.2339G>C c.371G>C c.2080G>C c.4474G>C (n.4474G>C) c.10857G>C (p.Lys3619Asn) n.4786G>C c.10986G>C (p.Lys3662Asn) | |
2 | g.73572860G>T | CA347286643 | ALMS1 | c.10602G>T (p.Lys3534Asn) c.3688G>T c.7883G>T c.5049G>T (p.Lys1683Asn) c.7928G>T c.10983G>T (p.Lys3661Asn) c.1137G>T (p.Lys379Asn) c.2339G>T c.371G>T c.2080G>T c.4474G>T (n.4474G>T) c.10857G>T (p.Lys3619Asn) n.4786G>T c.10986G>T (p.Lys3662Asn) | |
2 | g.73572861G>A | CA347286648 | ALMS1 | c.10603G>A (p.Glu3535Lys) c.3689G>A c.7884G>A c.5050G>A (p.Glu1684Lys) c.7929G>A c.10984G>A (p.Glu3662Lys) c.1138G>A (p.Glu380Lys) c.2340G>A c.372G>A c.2081G>A c.4475G>A (n.4475G>A) c.10858G>A (p.Glu3620Lys) n.4787G>A c.10987G>A (p.Glu3663Lys) | |
2 | g.73572861G>C | CA347286651 | ALMS1 | c.10603G>C (p.Glu3535Gln) c.3689G>C c.7884G>C c.5050G>C (p.Glu1684Gln) c.7929G>C c.10984G>C (p.Glu3662Gln) c.1138G>C (p.Glu380Gln) c.2340G>C c.372G>C c.2081G>C c.4475G>C (n.4475G>C) c.10858G>C (p.Glu3620Gln) n.4787G>C c.10987G>C (p.Glu3663Gln) | |
2 | g.73572861G>T | CA347286652 | ALMS1 | c.10603G>T (p.Glu3535Ter) c.3689G>T c.7884G>T c.5050G>T (p.Glu1684Ter) c.7929G>T c.10984G>T (p.Glu3662Ter) c.1138G>T (p.Glu380Ter) c.2340G>T c.372G>T c.2081G>T c.4475G>T (n.4475G>T) c.10858G>T (p.Glu3620Ter) n.4787G>T c.10987G>T (p.Glu3663Ter) | ClinVar |
2 | g.73572862A= | CA1261022043 | ALMS1 | c.10604A= (p.Glu3535=) c.3690A= c.7885A= c.5051A= (p.Glu1684=) c.7930A= c.10985A= (p.Glu3662=) c.1139A= (p.Glu380=) c.2341A= c.373A= c.2082A= c.4476A= (n.4476A=) c.10859A= (p.Glu3620=) n.4788A= c.10988A= (p.Glu3663=) | |
2 | g.73572862A>C | CA347286656 | ALMS1 | c.10604A>C (p.Glu3535Ala) c.3690A>C c.7885A>C c.5051A>C (p.Glu1684Ala) c.7930A>C c.10985A>C (p.Glu3662Ala) c.1139A>C (p.Glu380Ala) c.2341A>C c.373A>C c.2082A>C c.4476A>C (n.4476A>C) c.10859A>C (p.Glu3620Ala) n.4788A>C c.10988A>C (p.Glu3663Ala) | |
2 | g.73572862A>G | CA1715096 | ALMS1 | c.10604A>G (p.Glu3535Gly) c.3690A>G c.7885A>G c.5051A>G (p.Glu1684Gly) c.7930A>G c.10985A>G (p.Glu3662Gly) c.1139A>G (p.Glu380Gly) c.2341A>G c.373A>G c.2082A>G c.4476A>G (n.4476A>G) c.10859A>G (p.Glu3620Gly) n.4788A>G c.10988A>G (p.Glu3663Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572862A>T | CA347286660 | ALMS1 | c.10604A>T (p.Glu3535Val) c.3690A>T c.7885A>T c.5051A>T (p.Glu1684Val) c.7930A>T c.10985A>T (p.Glu3662Val) c.1139A>T (p.Glu380Val) c.2341A>T c.373A>T c.2082A>T c.4476A>T (n.4476A>T) c.10859A>T (p.Glu3620Val) n.4788A>T c.10988A>T (p.Glu3663Val) | |
2 | g.73572863A= | CA1261022048 | ALMS1 | c.10605A= (p.Glu3535=) c.3691A= c.7886A= c.5052A= (p.Glu1684=) c.7931A= c.10986A= (p.Glu3662=) c.1140A= (p.Glu380=) c.2342A= c.374A= c.2083A= c.4477A= (n.4477A=) c.10860A= (p.Glu3620=) n.4789A= c.10989A= (p.Glu3663=) | |
2 | g.73572863A>C | CA347286665 | ALMS1 | c.10605A>C (p.Glu3535Asp) c.3691A>C c.7886A>C c.5052A>C (p.Glu1684Asp) c.7931A>C c.10986A>C (p.Glu3662Asp) c.1140A>C (p.Glu380Asp) c.2342A>C c.374A>C c.2083A>C c.4477A>C (n.4477A>C) c.10860A>C (p.Glu3620Asp) n.4789A>C c.10989A>C (p.Glu3663Asp) | |
2 | g.73572863A>G | CA1715097 | ALMS1 | c.10605A>G (p.Glu3535=) c.3691A>G c.7886A>G c.5052A>G (p.Glu1684=) c.7931A>G c.10986A>G (p.Glu3662=) c.1140A>G (p.Glu380=) c.2342A>G c.374A>G c.2083A>G c.4477A>G (n.4477A>G) c.10860A>G (p.Glu3620=) n.4789A>G c.10989A>G (p.Glu3663=) | ClinVar dbSNP ExAC gnomAD v2 |
2 | g.73572863A>T | CA347286669 | ALMS1 | c.10605A>T (p.Glu3535Asp) c.3691A>T c.7886A>T c.5052A>T (p.Glu1684Asp) c.7931A>T c.10986A>T (p.Glu3662Asp) c.1140A>T (p.Glu380Asp) c.2342A>T c.374A>T c.2083A>T c.4477A>T (n.4477A>T) c.10860A>T (p.Glu3620Asp) n.4789A>T c.10989A>T (p.Glu3663Asp) | |
2 | g.73572864T>A | CA347286675 | ALMS1 | c.10606T>A (p.Trp3536Arg) c.3692T>A c.7887T>A c.5053T>A (p.Trp1685Arg) c.7932T>A c.10987T>A (p.Trp3663Arg) c.1141T>A (p.Trp381Arg) c.2343T>A c.375T>A c.2084T>A c.4478T>A (n.4478T>A) c.10861T>A (p.Trp3621Arg) n.4790T>A c.10990T>A (p.Trp3664Arg) | |
2 | g.73572864T>C | CA347286677 | ALMS1 | c.10606T>C (p.Trp3536Arg) c.3692T>C c.7887T>C c.5053T>C (p.Trp1685Arg) c.7932T>C c.10987T>C (p.Trp3663Arg) c.1141T>C (p.Trp381Arg) c.2343T>C c.375T>C c.2084T>C c.4478T>C (n.4478T>C) c.10861T>C (p.Trp3621Arg) n.4790T>C c.10990T>C (p.Trp3664Arg) | dbSNP gnomAD v4 |
2 | g.73572864T>G | CA1715098 | ALMS1 | c.10606T>G (p.Trp3536Gly) c.3692T>G c.7887T>G c.5053T>G (p.Trp1685Gly) c.7932T>G c.10987T>G (p.Trp3663Gly) c.1141T>G (p.Trp381Gly) c.2343T>G c.375T>G c.2084T>G c.4478T>G (n.4478T>G) c.10861T>G (p.Trp3621Gly) n.4790T>G c.10990T>G (p.Trp3664Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572864T= | CA1261022050 | ALMS1 | c.10606T= (p.Trp3536=) c.3692T= c.7887T= c.5053T= (p.Trp1685=) c.7932T= c.10987T= (p.Trp3663=) c.1141T= (p.Trp381=) c.2343T= c.375T= c.2084T= c.4478T= (n.4478T=) c.10861T= (p.Trp3621=) n.4790T= c.10990T= (p.Trp3664=) | |
2 | g.73572865G>A | CA347286686 | ALMS1 | c.10607G>A (p.Trp3536Ter) c.3693G>A c.7888G>A c.5054G>A (p.Trp1685Ter) c.7933G>A c.10988G>A (p.Trp3663Ter) c.1142G>A (p.Trp381Ter) c.2344G>A c.376G>A c.2085G>A c.4479G>A (n.4479G>A) c.10862G>A (p.Trp3621Ter) n.4791G>A c.10991G>A (p.Trp3664Ter) | ClinVar dbSNP |
2 | g.73572865G>C | CA347286681 | ALMS1 | c.10607G>C (p.Trp3536Ser) c.3693G>C c.7888G>C c.5054G>C (p.Trp1685Ser) c.7933G>C c.10988G>C (p.Trp3663Ser) c.1142G>C (p.Trp381Ser) c.2344G>C c.376G>C c.2085G>C c.4479G>C (n.4479G>C) c.10862G>C (p.Trp3621Ser) n.4791G>C c.10991G>C (p.Trp3664Ser) | |
2 | g.73572865G= | CA1261022053 | ALMS1 | c.10607G= (p.Trp3536=) c.3693G= c.7888G= c.5054G= (p.Trp1685=) c.7933G= c.10988G= (p.Trp3663=) c.1142G= (p.Trp381=) c.2344G= c.376G= c.2085G= c.4479G= (n.4479G=) c.10862G= (p.Trp3621=) n.4791G= c.10991G= (p.Trp3664=) | |
2 | g.73572865G>T | CA347286684 | ALMS1 | c.10607G>T (p.Trp3536Leu) c.3693G>T c.7888G>T c.5054G>T (p.Trp1685Leu) c.7933G>T c.10988G>T (p.Trp3663Leu) c.1142G>T (p.Trp381Leu) c.2344G>T c.376G>T c.2085G>T c.4479G>T (n.4479G>T) c.10862G>T (p.Trp3621Leu) n.4791G>T c.10991G>T (p.Trp3664Leu) | |
2 | g.73572866G>A | CA252955 | ALMS1 | c.10608G>A (p.Trp3536Ter) c.3694G>A c.7889G>A c.5055G>A (p.Trp1685Ter) c.7934G>A c.10989G>A (p.Trp3663Ter) c.1143G>A (p.Trp381Ter) c.2345G>A c.377G>A c.2086G>A c.4480G>A (n.4480G>A) c.10863G>A (p.Trp3621Ter) n.4792G>A c.10992G>A (p.Trp3664Ter) | ClinVar dbSNP |
2 | g.73572866G>C | CA347286692 | ALMS1 | c.10608G>C (p.Trp3536Cys) c.3694G>C c.7889G>C c.5055G>C (p.Trp1685Cys) c.7934G>C c.10989G>C (p.Trp3663Cys) c.1143G>C (p.Trp381Cys) c.2345G>C c.377G>C c.2086G>C c.4480G>C (n.4480G>C) c.10863G>C (p.Trp3621Cys) n.4792G>C c.10992G>C (p.Trp3664Cys) | |
2 | g.73572866G= | CA1261022060 | ALMS1 | c.10608G= (p.Trp3536=) c.3694G= c.7889G= c.5055G= (p.Trp1685=) c.7934G= c.10989G= (p.Trp3663=) c.1143G= (p.Trp381=) c.2345G= c.377G= c.2086G= c.4480G= (n.4480G=) c.10863G= (p.Trp3621=) n.4792G= c.10992G= (p.Trp3664=) | |
2 | g.73572866G>T | CA347286695 | ALMS1 | c.10608G>T (p.Trp3536Cys) c.3694G>T c.7889G>T c.5055G>T (p.Trp1685Cys) c.7934G>T c.10989G>T (p.Trp3663Cys) c.1143G>T (p.Trp381Cys) c.2345G>T c.377G>T c.2086G>T c.4480G>T (n.4480G>T) c.10863G>T (p.Trp3621Cys) n.4792G>T c.10992G>T (p.Trp3664Cys) | |
2 | g.73572867A>C | CA347286699 | ALMS1 | c.10609A>C (p.Ser3537Arg) c.3695A>C c.7890A>C c.5056A>C (p.Ser1686Arg) c.7935A>C c.10990A>C (p.Ser3664Arg) c.1144A>C (p.Ser382Arg) c.2346A>C c.378A>C c.2087A>C c.4481A>C (n.4481A>C) c.10864A>C (p.Ser3622Arg) n.4793A>C c.10993A>C (p.Ser3665Arg) | |
2 | g.73572867A>G | CA347286701 | ALMS1 | c.10609A>G (p.Ser3537Gly) c.3695A>G c.7890A>G c.5056A>G (p.Ser1686Gly) c.7935A>G c.10990A>G (p.Ser3664Gly) c.1144A>G (p.Ser382Gly) c.2346A>G c.378A>G c.2087A>G c.4481A>G (n.4481A>G) c.10864A>G (p.Ser3622Gly) n.4793A>G c.10993A>G (p.Ser3665Gly) | |
2 | g.73572867A>T | CA347286704 | ALMS1 | c.10609A>T (p.Ser3537Cys) c.3695A>T c.7890A>T c.5056A>T (p.Ser1686Cys) c.7935A>T c.10990A>T (p.Ser3664Cys) c.1144A>T (p.Ser382Cys) c.2346A>T c.378A>T c.2087A>T c.4481A>T (n.4481A>T) c.10864A>T (p.Ser3622Cys) n.4793A>T c.10993A>T (p.Ser3665Cys) | |
2 | g.73572868G>A | CA347286706 | ALMS1 | c.10610G>A (p.Ser3537Asn) c.3696G>A c.7891G>A c.5057G>A (p.Ser1686Asn) c.7936G>A c.10991G>A (p.Ser3664Asn) c.1145G>A (p.Ser382Asn) c.2347G>A c.379G>A c.2088G>A c.4482G>A (n.4482G>A) c.10865G>A (p.Ser3622Asn) n.4794G>A c.10994G>A (p.Ser3665Asn) | gnomAD v4 |
2 | g.73572868G>C | CA347286709 | ALMS1 | c.10610G>C (p.Ser3537Thr) c.3696G>C c.7891G>C c.5057G>C (p.Ser1686Thr) c.7936G>C c.10991G>C (p.Ser3664Thr) c.1145G>C (p.Ser382Thr) c.2347G>C c.379G>C c.2088G>C c.4482G>C (n.4482G>C) c.10865G>C (p.Ser3622Thr) n.4794G>C c.10994G>C (p.Ser3665Thr) | gnomAD v4 |
2 | g.73572868G>T | CA347286712 | ALMS1 | c.10610G>T (p.Ser3537Ile) c.3696G>T c.7891G>T c.5057G>T (p.Ser1686Ile) c.7936G>T c.10991G>T (p.Ser3664Ile) c.1145G>T (p.Ser382Ile) c.2347G>T c.379G>T c.2088G>T c.4482G>T (n.4482G>T) c.10865G>T (p.Ser3622Ile) n.4794G>T c.10994G>T (p.Ser3665Ile) | |
2 | g.73572869T>A | CA347286715 | ALMS1 | c.10611T>A (p.Ser3537Arg) c.3697T>A c.7892T>A c.5058T>A (p.Ser1686Arg) c.7937T>A c.10992T>A (p.Ser3664Arg) c.1146T>A (p.Ser382Arg) c.2348T>A c.380T>A c.2089T>A c.4483T>A (n.4483T>A) c.10866T>A (p.Ser3622Arg) n.4795T>A c.10995T>A (p.Ser3665Arg) | |
2 | g.73572869T>C | CA427024350 | ALMS1 | c.10611T>C (p.Ser3537=) c.3697T>C c.7892T>C c.5058T>C (p.Ser1686=) c.7937T>C c.10992T>C (p.Ser3664=) c.1146T>C (p.Ser382=) c.2348T>C c.380T>C c.2089T>C c.4483T>C (n.4483T>C) c.10866T>C (p.Ser3622=) n.4795T>C c.10995T>C (p.Ser3665=) | |
2 | g.73572869T>G | CA347286718 | ALMS1 | c.10611T>G (p.Ser3537Arg) c.3697T>G c.7892T>G c.5058T>G (p.Ser1686Arg) c.7937T>G c.10992T>G (p.Ser3664Arg) c.1146T>G (p.Ser382Arg) c.2348T>G c.380T>G c.2089T>G c.4483T>G (n.4483T>G) c.10866T>G (p.Ser3622Arg) n.4795T>G c.10995T>G (p.Ser3665Arg) | |
2 | g.73572870G>A | CA347286720 | ALMS1 | c.10612G>A (p.Gly3538Ser) c.3698G>A c.7893G>A c.5059G>A (p.Gly1687Ser) c.7938G>A c.10993G>A (p.Gly3665Ser) c.1147G>A (p.Gly383Ser) c.2349G>A c.381G>A c.2090G>A c.4484G>A (n.4484G>A) c.10867G>A (p.Gly3623Ser) n.4796G>A c.10996G>A (p.Gly3666Ser) | |
2 | g.73572870G>C | CA347286727 | ALMS1 | c.10612G>C (p.Gly3538Arg) c.3698G>C c.7893G>C c.5059G>C (p.Gly1687Arg) c.7938G>C c.10993G>C (p.Gly3665Arg) c.1147G>C (p.Gly383Arg) c.2349G>C c.381G>C c.2090G>C c.4484G>C (n.4484G>C) c.10867G>C (p.Gly3623Arg) n.4796G>C c.10996G>C (p.Gly3666Arg) | |
2 | g.73572870G>T | CA347286724 | ALMS1 | c.10612G>T (p.Gly3538Cys) c.3698G>T c.7893G>T c.5059G>T (p.Gly1687Cys) c.7938G>T c.10993G>T (p.Gly3665Cys) c.1147G>T (p.Gly383Cys) c.2349G>T c.381G>T c.2090G>T c.4484G>T (n.4484G>T) c.10867G>T (p.Gly3623Cys) n.4796G>T c.10996G>T (p.Gly3666Cys) | gnomAD v4 |
2 | g.73572871G>A | CA50386604 | ALMS1 | c.10613G>A (p.Gly3538Asp) c.3699G>A c.7894G>A c.5060G>A (p.Gly1687Asp) c.7939G>A c.10994G>A (p.Gly3665Asp) c.1148G>A (p.Gly383Asp) c.2350G>A c.382G>A c.2091G>A c.4485G>A (n.4485G>A) c.10868G>A (p.Gly3623Asp) n.4797G>A c.10997G>A (p.Gly3666Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572871G>C | CA347286736 | ALMS1 | c.10613G>C (p.Gly3538Ala) c.3699G>C c.7894G>C c.5060G>C (p.Gly1687Ala) c.7939G>C c.10994G>C (p.Gly3665Ala) c.1148G>C (p.Gly383Ala) c.2350G>C c.382G>C c.2091G>C c.4485G>C (n.4485G>C) c.10868G>C (p.Gly3623Ala) n.4797G>C c.10997G>C (p.Gly3666Ala) | |
2 | g.73572871G= | CA1261022064 | ALMS1 | c.10613G= (p.Gly3538=) c.3699G= c.7894G= c.5060G= (p.Gly1687=) c.7939G= c.10994G= (p.Gly3665=) c.1148G= (p.Gly383=) c.2350G= c.382G= c.2091G= c.4485G= (n.4485G=) c.10868G= (p.Gly3623=) n.4797G= c.10997G= (p.Gly3666=) | |
2 | g.73572871G>T | CA347286738 | ALMS1 | c.10613G>T (p.Gly3538Val) c.3699G>T c.7894G>T c.5060G>T (p.Gly1687Val) c.7939G>T c.10994G>T (p.Gly3665Val) c.1148G>T (p.Gly383Val) c.2350G>T c.382G>T c.2091G>T c.4485G>T (n.4485G>T) c.10868G>T (p.Gly3623Val) n.4797G>T c.10997G>T (p.Gly3666Val) | ClinVar gnomAD v4 |
2 | g.73572872del | CA2750467833 | ALMS1 | c.10614del (p.Arg3539AspfsTer17) c.3700del c.7895del c.5061del (p.Arg1688AspfsTer17) c.7940del c.10995del (p.Arg3666AspfsTer17) c.1149del (p.Arg384AspfsTer17) c.2351del c.383del c.2092del c.4486del (n.4486del) c.10869del (p.Arg3624AspfsTer17) n.4798del c.10998del (p.Arg3667AspfsTer17) | |
2 | g.73572872T>A | CA427024355 | ALMS1 | c.10614T>A (p.Gly3538=) c.3700T>A c.7895T>A c.5061T>A (p.Gly1687=) c.7940T>A c.10995T>A (p.Gly3665=) c.1149T>A (p.Gly383=) c.2351T>A c.383T>A c.2092T>A c.4486T>A (n.4486T>A) c.10869T>A (p.Gly3623=) n.4798T>A c.10998T>A (p.Gly3666=) | |
2 | g.73572872T>C | CA427024357 | ALMS1 | c.10614T>C (p.Gly3538=) c.3700T>C c.7895T>C c.5061T>C (p.Gly1687=) c.7940T>C c.10995T>C (p.Gly3665=) c.1149T>C (p.Gly383=) c.2351T>C c.383T>C c.2092T>C c.4486T>C (n.4486T>C) c.10869T>C (p.Gly3623=) n.4798T>C c.10998T>C (p.Gly3666=) | ClinVar gnomAD v4 |
2 | g.73572872T>G | CA427024356 | ALMS1 | c.10614T>G (p.Gly3538=) c.3700T>G c.7895T>G c.5061T>G (p.Gly1687=) c.7940T>G c.10995T>G (p.Gly3665=) c.1149T>G (p.Gly383=) c.2351T>G c.383T>G c.2092T>G c.4486T>G (n.4486T>G) c.10869T>G (p.Gly3623=) n.4798T>G c.10998T>G (p.Gly3666=) | |
2 | g.73572873A= | CA1261022069 | ALMS1 | c.10615A= (p.Arg3539=) c.3701A= c.7896A= c.5062A= (p.Arg1688=) c.7941A= c.10996A= (p.Arg3666=) c.1150A= (p.Arg384=) c.2352A= c.384A= c.2093A= c.4487A= (n.4487A=) c.10870A= (p.Arg3624=) n.4799A= c.10999A= (p.Arg3667=) | |
2 | g.73572873A>C | CA427024358 | ALMS1 | c.10615A>C (p.Arg3539=) c.3701A>C c.7896A>C c.5062A>C (p.Arg1688=) c.7941A>C c.10996A>C (p.Arg3666=) c.1150A>C (p.Arg384=) c.2352A>C c.384A>C c.2093A>C c.4487A>C (n.4487A>C) c.10870A>C (p.Arg3624=) n.4799A>C c.10999A>C (p.Arg3667=) | |
2 | g.73572873A>G | CA1715099 | ALMS1 | c.10615A>G (p.Arg3539Gly) c.3701A>G c.7896A>G c.5062A>G (p.Arg1688Gly) c.7941A>G c.10996A>G (p.Arg3666Gly) c.1150A>G (p.Arg384Gly) c.2352A>G c.384A>G c.2093A>G c.4487A>G (n.4487A>G) c.10870A>G (p.Arg3624Gly) n.4799A>G c.10999A>G (p.Arg3667Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572873A>T | CA347286743 | ALMS1 | c.10615A>T (p.Arg3539Ter) c.3701A>T c.7896A>T c.5062A>T (p.Arg1688Ter) c.7941A>T c.10996A>T (p.Arg3666Ter) c.1150A>T (p.Arg384Ter) c.2352A>T c.384A>T c.2093A>T c.4487A>T (n.4487A>T) c.10870A>T (p.Arg3624Ter) n.4799A>T c.10999A>T (p.Arg3667Ter) | |
2 | g.73572874G>A | CA50386608 | ALMS1 | c.10616G>A (p.Arg3539Lys) c.3702G>A c.7897G>A c.5063G>A (p.Arg1688Lys) c.7942G>A c.10997G>A (p.Arg3666Lys) c.1151G>A (p.Arg384Lys) c.2353G>A c.385G>A c.2094G>A c.4488G>A (n.4488G>A) c.10871G>A (p.Arg3624Lys) n.4800G>A c.11000G>A (p.Arg3667Lys) | dbSNP |
2 | g.73572874G>C | CA347286748 | ALMS1 | c.10616G>C (p.Arg3539Thr) c.3702G>C c.7897G>C c.5063G>C (p.Arg1688Thr) c.7942G>C c.10997G>C (p.Arg3666Thr) c.1151G>C (p.Arg384Thr) c.2353G>C c.385G>C c.2094G>C c.4488G>C (n.4488G>C) c.10871G>C (p.Arg3624Thr) n.4800G>C c.11000G>C (p.Arg3667Thr) | |
2 | g.73572874G= | CA1261022072 | ALMS1 | c.10616G= (p.Arg3539=) c.3702G= c.7897G= c.5063G= (p.Arg1688=) c.7942G= c.10997G= (p.Arg3666=) c.1151G= (p.Arg384=) c.2353G= c.385G= c.2094G= c.4488G= (n.4488G=) c.10871G= (p.Arg3624=) n.4800G= c.11000G= (p.Arg3667=) | |
2 | g.73572874G>T | CA347286752 | ALMS1 | c.10616G>T (p.Arg3539Ile) c.3702G>T c.7897G>T c.5063G>T (p.Arg1688Ile) c.7942G>T c.10997G>T (p.Arg3666Ile) c.1151G>T (p.Arg384Ile) c.2353G>T c.385G>T c.2094G>T c.4488G>T (n.4488G>T) c.10871G>T (p.Arg3624Ile) n.4800G>T c.11000G>T (p.Arg3667Ile) | |
2 | g.73572875A= | CA1261022075 | ALMS1 | c.10617A= (p.Arg3539=) c.3703A= c.7898A= c.5064A= (p.Arg1688=) c.7943A= c.10998A= (p.Arg3666=) c.1152A= (p.Arg384=) c.2354A= c.386A= c.2095A= c.4489A= (n.4489A=) c.10872A= (p.Arg3624=) n.4801A= c.11001A= (p.Arg3667=) | |
2 | g.73572875A>C | CA347286754 | ALMS1 | c.10617A>C (p.Arg3539Ser) c.3703A>C c.7898A>C c.5064A>C (p.Arg1688Ser) c.7943A>C c.10998A>C (p.Arg3666Ser) c.1152A>C (p.Arg384Ser) c.2354A>C c.386A>C c.2095A>C c.4489A>C (n.4489A>C) c.10872A>C (p.Arg3624Ser) n.4801A>C c.11001A>C (p.Arg3667Ser) | |
2 | g.73572875A>G | CA427024365 | ALMS1 | c.10617A>G (p.Arg3539=) c.3703A>G c.7898A>G c.5064A>G (p.Arg1688=) c.7943A>G c.10998A>G (p.Arg3666=) c.1152A>G (p.Arg384=) c.2354A>G c.386A>G c.2095A>G c.4489A>G (n.4489A>G) c.10872A>G (p.Arg3624=) n.4801A>G c.11001A>G (p.Arg3667=) | dbSNP |
2 | g.73572875A>T | CA347286756 | ALMS1 | c.10617A>T (p.Arg3539Ser) c.3703A>T c.7898A>T c.5064A>T (p.Arg1688Ser) c.7943A>T c.10998A>T (p.Arg3666Ser) c.1152A>T (p.Arg384Ser) c.2354A>T c.386A>T c.2095A>T c.4489A>T (n.4489A>T) c.10872A>T (p.Arg3624Ser) n.4801A>T c.11001A>T (p.Arg3667Ser) | |
2 | g.73572876del | CA2586964960 | ALMS1 | c.10618del (p.Gln3540AsnfsTer16) c.3704del c.7899del c.5065del (p.Gln1689AsnfsTer16) c.7944del c.10999del (p.Gln3667AsnfsTer16) c.1153del (p.Gln385AsnfsTer16) c.2355del c.387del c.2096del c.4490del (n.4490del) c.10873del (p.Gln3625AsnfsTer16) n.4802del c.11002del (p.Gln3668AsnfsTer16) | |
2 | g.73572876C>A | CA347286763 | ALMS1 | c.10618C>A (p.Gln3540Lys) c.3704C>A c.7899C>A c.5065C>A (p.Gln1689Lys) c.7944C>A c.10999C>A (p.Gln3667Lys) c.1153C>A (p.Gln385Lys) c.2355C>A c.387C>A c.2096C>A c.4490C>A (n.4490C>A) c.10873C>A (p.Gln3625Lys) n.4802C>A c.11002C>A (p.Gln3668Lys) | |
2 | g.73572876C>G | CA347286765 | ALMS1 | c.10618C>G (p.Gln3540Glu) c.3704C>G c.7899C>G c.5065C>G (p.Gln1689Glu) c.7944C>G c.10999C>G (p.Gln3667Glu) c.1153C>G (p.Gln385Glu) c.2355C>G c.387C>G c.2096C>G c.4490C>G (n.4490C>G) c.10873C>G (p.Gln3625Glu) n.4802C>G c.11002C>G (p.Gln3668Glu) | |
2 | g.73572876C>T | CA347286760 | ALMS1 | c.10618C>T (p.Gln3540Ter) c.3704C>T c.7899C>T c.5065C>T (p.Gln1689Ter) c.7944C>T c.10999C>T (p.Gln3667Ter) c.1153C>T (p.Gln385Ter) c.2355C>T c.387C>T c.2096C>T c.4490C>T (n.4490C>T) c.10873C>T (p.Gln3625Ter) n.4802C>T c.11002C>T (p.Gln3668Ter) | ClinVar dbSNP |
2 | g.73572877A>C | CA347286770 | ALMS1 | c.10619A>C (p.Gln3540Pro) c.3705A>C c.7900A>C c.5066A>C (p.Gln1689Pro) c.7945A>C c.11000A>C (p.Gln3667Pro) c.1154A>C (p.Gln385Pro) c.2356A>C c.388A>C c.2097A>C c.4491A>C (n.4491A>C) c.10874A>C (p.Gln3625Pro) n.4803A>C c.11003A>C (p.Gln3668Pro) | gnomAD v4 |
2 | g.73572877A>G | CA347286773 | ALMS1 | c.10619A>G (p.Gln3540Arg) c.3705A>G c.7900A>G c.5066A>G (p.Gln1689Arg) c.7945A>G c.11000A>G (p.Gln3667Arg) c.1154A>G (p.Gln385Arg) c.2356A>G c.388A>G c.2097A>G c.4491A>G (n.4491A>G) c.10874A>G (p.Gln3625Arg) n.4803A>G c.11003A>G (p.Gln3668Arg) | |
2 | g.73572877A>T | CA347286775 | ALMS1 | c.10619A>T (p.Gln3540Leu) c.3705A>T c.7900A>T c.5066A>T (p.Gln1689Leu) c.7945A>T c.11000A>T (p.Gln3667Leu) c.1154A>T (p.Gln385Leu) c.2356A>T c.388A>T c.2097A>T c.4491A>T (n.4491A>T) c.10874A>T (p.Gln3625Leu) n.4803A>T c.11003A>T (p.Gln3668Leu) | |
2 | g.73572878A>C | CA347286781 | ALMS1 | c.10620A>C (p.Gln3540His) c.3706A>C c.7901A>C c.5067A>C (p.Gln1689His) c.7946A>C c.11001A>C (p.Gln3667His) c.1155A>C (p.Gln385His) c.2357A>C c.389A>C c.2098A>C c.4492A>C (n.4492A>C) c.10875A>C (p.Gln3625His) n.4804A>C c.11004A>C (p.Gln3668His) | |
2 | g.73572878A>G | CA427024373 | ALMS1 | c.10620A>G (p.Gln3540=) c.3706A>G c.7901A>G c.5067A>G (p.Gln1689=) c.7946A>G c.11001A>G (p.Gln3667=) c.1155A>G (p.Gln385=) c.2357A>G c.389A>G c.2098A>G c.4492A>G (n.4492A>G) c.10875A>G (p.Gln3625=) n.4804A>G c.11004A>G (p.Gln3668=) | ClinVar gnomAD v4 |
2 | g.73572878A>T | CA347286783 | ALMS1 | c.10620A>T (p.Gln3540His) c.3706A>T c.7901A>T c.5067A>T (p.Gln1689His) c.7946A>T c.11001A>T (p.Gln3667His) c.1155A>T (p.Gln385His) c.2357A>T c.389A>T c.2098A>T c.4492A>T (n.4492A>T) c.10875A>T (p.Gln3625His) n.4804A>T c.11004A>T (p.Gln3668His) | |
2 | g.73572879del | CA2659617249 | ALMS1 | c.10621del (p.Gln3541SerfsTer15) c.3707del c.7902del c.5068del (p.Gln1690SerfsTer15) c.7947del c.11002del (p.Gln3668SerfsTer15) c.1156del (p.Gln386SerfsTer15) c.2358del c.390del c.2099del c.4493del (n.4493del) c.10876del (p.Gln3626SerfsTer15) n.4805del c.11005del (p.Gln3669SerfsTer15) | gnomAD v4 |
2 | g.73572879C>A | CA347286792 | ALMS1 | c.10621C>A (p.Gln3541Lys) c.3707C>A c.7902C>A c.5068C>A (p.Gln1690Lys) c.7947C>A c.11002C>A (p.Gln3668Lys) c.1156C>A (p.Gln386Lys) c.2358C>A c.390C>A c.2099C>A c.4493C>A (n.4493C>A) c.10876C>A (p.Gln3626Lys) n.4805C>A c.11005C>A (p.Gln3669Lys) | |
2 | g.73572879C= | CA1261022079 | ALMS1 | c.10621C= (p.Gln3541=) c.3707C= c.7902C= c.5068C= (p.Gln1690=) c.7947C= c.11002C= (p.Gln3668=) c.1156C= (p.Gln386=) c.2358C= c.390C= c.2099C= c.4493C= (n.4493C=) c.10876C= (p.Gln3626=) n.4805C= c.11005C= (p.Gln3669=) | |
2 | g.73572879C>G | CA347286790 | ALMS1 | c.10621C>G (p.Gln3541Glu) c.3707C>G c.7902C>G c.5068C>G (p.Gln1690Glu) c.7947C>G c.11002C>G (p.Gln3668Glu) c.1156C>G (p.Gln386Glu) c.2358C>G c.390C>G c.2099C>G c.4493C>G (n.4493C>G) c.10876C>G (p.Gln3626Glu) n.4805C>G c.11005C>G (p.Gln3669Glu) | |
2 | g.73572879C>T | CA1715100 | ALMS1 | c.10621C>T (p.Gln3541Ter) c.3707C>T c.7902C>T c.5068C>T (p.Gln1690Ter) c.7947C>T c.11002C>T (p.Gln3668Ter) c.1156C>T (p.Gln386Ter) c.2358C>T c.390C>T c.2099C>T c.4493C>T (n.4493C>T) c.10876C>T (p.Gln3626Ter) n.4805C>T c.11005C>T (p.Gln3669Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572880A>C | CA347286795 | ALMS1 | c.10622A>C (p.Gln3541Pro) c.3708A>C c.7903A>C c.5069A>C (p.Gln1690Pro) c.7948A>C c.11003A>C (p.Gln3668Pro) c.1157A>C (p.Gln386Pro) c.2359A>C c.391A>C c.2100A>C c.4494A>C (n.4494A>C) c.10877A>C (p.Gln3626Pro) n.4806A>C c.11006A>C (p.Gln3669Pro) | |
2 | g.73572880A>G | CA347286796 | ALMS1 | c.10622A>G (p.Gln3541Arg) c.3708A>G c.7903A>G c.5069A>G (p.Gln1690Arg) c.7948A>G c.11003A>G (p.Gln3668Arg) c.1157A>G (p.Gln386Arg) c.2359A>G c.391A>G c.2100A>G c.4494A>G (n.4494A>G) c.10877A>G (p.Gln3626Arg) n.4806A>G c.11006A>G (p.Gln3669Arg) | |
2 | g.73572880A>T | CA347286798 | ALMS1 | c.10622A>T (p.Gln3541Leu) c.3708A>T c.7903A>T c.5069A>T (p.Gln1690Leu) c.7948A>T c.11003A>T (p.Gln3668Leu) c.1157A>T (p.Gln386Leu) c.2359A>T c.391A>T c.2100A>T c.4494A>T (n.4494A>T) c.10877A>T (p.Gln3626Leu) n.4806A>T c.11006A>T (p.Gln3669Leu) | |
2 | g.73572881G>A | CA1715101 | ALMS1 | c.10623G>A (p.Gln3541=) c.3709G>A c.7904G>A c.5070G>A (p.Gln1690=) c.7949G>A c.11004G>A (p.Gln3668=) c.1158G>A (p.Gln386=) c.2360G>A c.392G>A c.2101G>A c.4495G>A (n.4495G>A) c.10878G>A (p.Gln3626=) n.4807G>A c.11007G>A (p.Gln3669=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572881G>C | CA347286807 | ALMS1 | c.10623G>C (p.Gln3541His) c.3709G>C c.7904G>C c.5070G>C (p.Gln1690His) c.7949G>C c.11004G>C (p.Gln3668His) c.1158G>C (p.Gln386His) c.2360G>C c.392G>C c.2101G>C c.4495G>C (n.4495G>C) c.10878G>C (p.Gln3626His) n.4807G>C c.11007G>C (p.Gln3669His) | |
2 | g.73572881G= | CA1261022080 | ALMS1 | c.10623G= (p.Gln3541=) c.3709G= c.7904G= c.5070G= (p.Gln1690=) c.7949G= c.11004G= (p.Gln3668=) c.1158G= (p.Gln386=) c.2360G= c.392G= c.2101G= c.4495G= (n.4495G=) c.10878G= (p.Gln3626=) n.4807G= c.11007G= (p.Gln3669=) | |
2 | g.73572881G>T | CA347286811 | ALMS1 | c.10623G>T (p.Gln3541His) c.3709G>T c.7904G>T c.5070G>T (p.Gln1690His) c.7949G>T c.11004G>T (p.Gln3668His) c.1158G>T (p.Gln386His) c.2360G>T c.392G>T c.2101G>T c.4495G>T (n.4495G>T) c.10878G>T (p.Gln3626His) n.4807G>T c.11007G>T (p.Gln3669His) | |
2 | g.73572882C>A | CA347286814 | ALMS1 | c.10624C>A (p.Gln3542Lys) c.3710C>A c.7905C>A c.5071C>A (p.Gln1691Lys) c.7950C>A c.11005C>A (p.Gln3669Lys) c.1159C>A (p.Gln387Lys) c.2361C>A c.393C>A c.2102C>A c.4496C>A (n.4496C>A) c.10879C>A (p.Gln3627Lys) n.4808C>A c.11008C>A (p.Gln3670Lys) | |
2 | g.73572882C= | CA1261022083 | ALMS1 | c.10624C= (p.Gln3542=) c.3710C= c.7905C= c.5071C= (p.Gln1691=) c.7950C= c.11005C= (p.Gln3669=) c.1159C= (p.Gln387=) c.2361C= c.393C= c.2102C= c.4496C= (n.4496C=) c.10879C= (p.Gln3627=) n.4808C= c.11008C= (p.Gln3670=) | |
2 | g.73572882C>G | CA1715102 | ALMS1 | c.10624C>G (p.Gln3542Glu) c.3710C>G c.7905C>G c.5071C>G (p.Gln1691Glu) c.7950C>G c.11005C>G (p.Gln3669Glu) c.1159C>G (p.Gln387Glu) c.2361C>G c.393C>G c.2102C>G c.4496C>G (n.4496C>G) c.10879C>G (p.Gln3627Glu) n.4808C>G c.11008C>G (p.Gln3670Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572882C>T | CA347286818 | ALMS1 | c.10624C>T (p.Gln3542Ter) c.3710C>T c.7905C>T c.5071C>T (p.Gln1691Ter) c.7950C>T c.11005C>T (p.Gln3669Ter) c.1159C>T (p.Gln387Ter) c.2361C>T c.393C>T c.2102C>T c.4496C>T (n.4496C>T) c.10879C>T (p.Gln3627Ter) n.4808C>T c.11008C>T (p.Gln3670Ter) | |
2 | g.73572883A= | CA1261022088 | ALMS1 | c.10625A= (p.Gln3542=) c.3711A= c.7906A= c.5072A= (p.Gln1691=) c.7951A= c.11006A= (p.Gln3669=) c.1160A= (p.Gln387=) c.2362A= c.394A= c.2103A= c.4497A= (n.4497A=) c.10880A= (p.Gln3627=) n.4809A= c.11009A= (p.Gln3670=) | |
2 | g.73572883A>C | CA347286823 | ALMS1 | c.10625A>C (p.Gln3542Pro) c.3711A>C c.7906A>C c.5072A>C (p.Gln1691Pro) c.7951A>C c.11006A>C (p.Gln3669Pro) c.1160A>C (p.Gln387Pro) c.2362A>C c.394A>C c.2103A>C c.4497A>C (n.4497A>C) c.10880A>C (p.Gln3627Pro) n.4809A>C c.11009A>C (p.Gln3670Pro) | |
2 | g.73572883A>G | CA1715103 | ALMS1 | c.10625A>G (p.Gln3542Arg) c.3711A>G c.7906A>G c.5072A>G (p.Gln1691Arg) c.7951A>G c.11006A>G (p.Gln3669Arg) c.1160A>G (p.Gln387Arg) c.2362A>G c.394A>G c.2103A>G c.4497A>G (n.4497A>G) c.10880A>G (p.Gln3627Arg) n.4809A>G c.11009A>G (p.Gln3670Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572883A>T | CA347286829 | ALMS1 | c.10625A>T (p.Gln3542Leu) c.3711A>T c.7906A>T c.5072A>T (p.Gln1691Leu) c.7951A>T c.11006A>T (p.Gln3669Leu) c.1160A>T (p.Gln387Leu) c.2362A>T c.394A>T c.2103A>T c.4497A>T (n.4497A>T) c.10880A>T (p.Gln3627Leu) n.4809A>T c.11009A>T (p.Gln3670Leu) |